uniprotkb_accession gene_name protein_name data_source dbsnp_id cosmic_id description evidence_ECO:0000269 evidence_ECO:0000313 cytogenic_band chromosome_id position ref_allele alt_allele ref_aa alt_aa begin_aa_pos end_aa_pos frequency mutation_type polyphen_score polyphen_prediction sift_score sift_prediction somatic_status disease disease_description disease_xrefs disease_evidence_ECO:0000269 disease_evidence_ECO:0000313 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs965203080 17q11.2 17 30172593 G null K E 2 2 missense 0.818 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1904993425 17q11.2 17 30172596 T null Q * 3 3 stop gained 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs562675606 17q11.2 17 30178074 G null K E 5 5 missense 0.965 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs562675606 17q11.2 17 30178074 C null K Q 5 5 missense 0.625 possibly damaging 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1471378657 17q11.2 17 30178078 C null L P 6 6 missense 1.0 probably damaging 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes rs2143009785 17q11.2 17 30178084 A null I N 8 8 missense 0.931 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1005041322 17q11.2 17 30178091 C null K N 10 10 missense 0.997 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1375824145 17q11.2 17 30178090 G null K R 10 10 missense 0.893 possibly damaging 0.06 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1306071001 17q11.2 17 30178098 C null A P 13 13 missense 0.993 probably damaging 0.06 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1306071001 17q11.2 17 30178098 A null A T 13 13 missense 0.936 probably damaging 0.05 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,TOPMed,gnomAD rs200960999 17q11.2 17 30178099 T null A V 13 13 0.000196232 missense 0.985 probably damaging 0.09 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1905186575 17q11.2 17 30178103 T null E D 14 14 missense 0.99 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1199802386 17q11.2 17 30178102 G null E G 14 14 missense 0.994 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs752681070 17q11.2 17 30178106 G null D E 15 15 missense 0.976 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1005620036 17q11.2 17 30178107 A null A T 16 16 missense 0.166 benign 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs758277396 17q11.2 17 30178110 G null T A 17 17 missense 0.985 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs777653699 17q11.2 17 30178117 G null Y C 19 19 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs777653699 17q11.2 17 30178117 T null Y F 19 19 missense 0.933 probably damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1905187586 17q11.2 17 30178123 T null Y F 21 21 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs781242765 17q11.2 17 30178122 C null Y H 21 21 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1437699720 17q11.2 17 30178127 G null D E 22 22 missense 1.0 probably damaging 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1905187790 17q11.2 17 30178125 A null D N 22 22 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1182622312 17q11.2 17 30178128 G null S G 23 23 missense 0.877 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,dbSNP,dbSNP,gnomAD rs746016935 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30178129 A null S N 23 23 missense 0.571 possibly damaging 0.09 tolerated 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1555583362 17q11.2 17 30178139 A null D E 26 26 missense 1.0 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1279266473 17q11.2 17 30178137 A null D N 26 26 missense 1.0 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1555583365 17q11.2 17 30178140 A null E K 27 27 missense 0.857 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1173220258 17q11.2 17 30178145 A null M I 28 28 missense 0.276 benign 0.11 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1477194298 17q11.2 17 30178144 A null M K 28 28 missense 0.974 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1395497464 17q11.2 17 30178146 A null Q K 29 29 missense 0.808 possibly damaging 0.01 deleterious 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143842750 17q11.2 17 30178149 G null K E 30 30 0.000784929 missense 0.588 possibly damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs529982933 17q11.2 17 30178150 G null K R 30 30 0.000196232 missense 0.1 benign 0.24 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1395705345 17q11.2 17 30178155 T null K * 32 32 stop gained 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs11544945 17q11.2 17 30178156 G null K R 32 32 missense 0.149 benign 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs769026576 17q11.2 17 30178159 G null E G 33 33 missense 0.917 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1328835169 17q11.2 17 30178161 A null E K 34 34 missense 1.0 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,gnomAD rs566349900 17q11.2 17 30178165 G null N S 35 35 0.000196232 missense 0.005 benign 1.0 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs762050562 17q11.2 17 30178171 G null P R 37 37 missense 0.564 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs138098896 17q11.2 17 30178174 C null K T 38 38 missense 0.697 possibly damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1160688451 17q11.2 17 30178178 T null L F 39 39 missense 0.974 probably damaging 0.01 deleterious 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs968072730 17q11.2 17 30178176 A null L M 39 39 missense 0.786 possibly damaging 0.2 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1905190256 17q11.2 17 30178180 A null L H 40 40 missense 0.997 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1905190256 17q11.2 17 30178180 C null L P 40 40 missense 0.995 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1905190157 17q11.2 17 30178179 G null L V 40 40 missense 0.968 probably damaging 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1236974549 17q11.2 17 30178186 A null G E 42 42 missense 0.619 possibly damaging 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs776136959 17q11.2 17 30178188 G null K E 43 43 missense 0.129 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1339384456 17q11.2 17 30178193 G null D E 44 44 missense 0.73 possibly damaging 0.08 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs2143009827 17q11.2 17 30178194 G null R G 45 45 missense 0.823 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1905190799 17q11.2 17 30178196 T null R S 45 45 missense 0.298 benign 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs759187390 17q11.2 17 30178198 G null K R 46 46 missense 0.975 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1386404119 17q11.2 17 30179091 T null P L 47 47 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs28564040 17q11.2 17 30179094 G null K R 48 48 missense 0.465 possibly damaging 0.49 tolerated 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs772260035 17q11.2 17 30179097 G null Y C 49 49 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs772260035 17q11.2 17 30179097 T null Y F 49 49 missense 0.995 probably damaging 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs776354605 17q11.2 17 30179099 C null I L 50 50 missense 0.999 probably damaging 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1173663694 17q11.2 17 30179103 G null H R 51 51 missense 0.79 possibly damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1905217798 17q11.2 17 30179106 G null N S 52 52 missense 0.471 possibly damaging 0.19 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1905217994 17q11.2 17 30179112 C null L P 54 54 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1366669653 17q11.2 17 30179116 C null K N 55 55 missense 0.996 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1905218206 17q11.2 17 30179117 C null A P 56 56 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1474801002 17q11.2 17 30179121 C null V A 57 57 missense 0.228 benign 0.73 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1905218388 17q11.2 17 30179124 G null E G 58 58 missense 0.993 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1905218487 17q11.2 17 30179129 G null R G 60 60 missense 0.996 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1165099443 17q11.2 17 30179136 G null K R 62 62 missense 0.911 probably damaging 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs745464588 17q11.2 17 30179141 G null Q E 64 64 missense 0.76 possibly damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs745464588 17q11.2 17 30179141 A null Q K 64 64 missense 0.971 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1905218900 17q11.2 17 30179150 G null R G 67 67 missense 0.996 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1287890158 17q11.2 17 30179151 T null R I 67 67 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs769451191 17q11.2 17 30179153 G null M V 68 68 missense 0.96 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1383144866 17q11.2 17 30179161 T null K N 70 70 missense 0.991 probably damaging 0.0 deleterious 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1567807214 17q11.2 17 30179166 C null I T 72 72 missense 0.998 probably damaging 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs374096765 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 17q11.2 17 30179177 T null R * 76 76 stop gained 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs762523200 17q11.2 17 30179178 A null R Q 76 76 missense 0.994 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1567807225 17q11.2 17 30179181 C null E A 77 77 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1905219576 17q11.2 17 30179180 A null E K 77 77 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs368966248 17q11.2 17 30179184 A null M K 78 78 missense 0.294 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1294047402 17q11.2 17 30179183 G null M V 78 78 missense 0.631 possibly damaging 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1213968038 17q11.2 17 30179186 A null E K 79 79 missense 0.539 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1260393699 17q11.2 17 30179189 G null K E 80 80 missense 0.637 possibly damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372734687 17q11.2 17 30179191 T null K N 80 80 0.000196232 missense 0.058 benign 0.15 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs767158654 17q11.2 17 30179193 A null G E 81 81 missense 0.472 possibly damaging 0.21 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1206676661 17q11.2 17 30179192 A null G R 81 81 missense 0.987 probably damaging 0.0 deleterious 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1485336216 17q11.2 17 30179198 A null F I 83 83 missense 0.997 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs750680433 17q11.2 17 30179202 C null D A 84 84 missense 0.276 benign 0.41 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs756284687 17q11.2 17 30179208 G null K R 86 86 missense 0.997 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs11544945 17q11.2 17 30178156 C null K T 86 86 missense 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1905221195 17q11.2 17 30179213 A null A T 88 88 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1905221285 17q11.2 17 30179214 T null A V 88 88 missense 0.998 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs753964711 17q11.2 17 30179216 C null F L 89 89 missense 0.985 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1403757698 17q11.2 17 30179219 A null V M 90 90 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1567807283 17q11.2 17 30179225 A null S T 92 92 missense 0.995 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs779542980 17q11.2 17 30179231 C null Y H 94 94 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149526911 17q11.2 17 30179235 C null K T 95 95 0.00117739 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1357870337 17q11.2 17 30179240 G null K E 97 97 missense 0.997 probably damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs777955554 17q11.2 17 30179241 T null K I 97 97 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1357870337 17q11.2 17 30179240 C null K Q 97 97 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1468980485 17q11.2 17 30179253 T null R I 101 101 missense 0.964 probably damaging 0.0 deleterious 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1412328781 17q11.2 17 30179254 T null R S 101 101 missense 0.96 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs745547815 17q11.2 17 30179256 T null A V 102 102 missense 0.993 probably damaging 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs769611082 17q11.2 17 30179258 C null E Q 103 103 missense 0.998 probably damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1905223023 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30179261 A null E K 104 104 missense 1.0 probably damaging 0.0 deleterious 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1905223156 17q11.2 17 30179264 A null E K 105 105 missense 0.984 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1905223315 17q11.2 17 30179267 C null E Q 106 106 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs775261703 17q11.2 17 30179274 C null E A 108 108 missense 0.986 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs748866625 17q11.2 17 30179281 T null R S 110 110 missense 0.881 possibly damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1027203393 17q11.2 17 30179282 A null A T 111 111 missense 0.853 possibly damaging 0.11 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1775462584 17q11.2 17 30179283 T null A V 111 111 missense 0.369 benign 0.23 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs774358124 17q11.2 17 30179289 G null A G 113 113 missense 0.993 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs767376843 17q11.2 17 30179297 A null A T 116 116 missense 0.997 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1251439258 17q11.2 17 30180911 C null C S 117 117 missense 0.0 benign 0.5 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1251439258 17q11.2 17 30180911 A null C Y 117 117 missense 0.0 benign 1.0 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1282355559 17q11.2 17 30180916 A null D N 119 119 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1375507380 17q11.2 17 30180919 A null V I 120 120 missense 0.999 probably damaging 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs765176858 17q11.2 17 30180922 G null T A 121 121 missense 0.993 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1296350266 17q11.2 17 30180926 T null K M 122 122 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs753273058 17q11.2 17 30180928 T null Q * 123 123 stop gained 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs752020771 17q11.2 17 30180936 G null D E 125 125 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs758791206 17q11.2 17 30180934 A null D N 125 125 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,dbSNP,dbSNP,gnomAD rs758791206 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30180934 T null D Y 125 125 missense 1.0 probably damaging 0.0 deleterious 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1194660227 17q11.2 17 30180940 G null S G 127 127 missense 0.995 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1406902705 17q11.2 17 30180941 A null S N 127 127 missense 0.997 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1905272315 17q11.2 17 30180946 C null F L 129 129 missense 0.997 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs757684820 17q11.2 17 30180953 A null R K 131 131 missense 0.996 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,TOPMed,gnomAD rs202058173 17q11.2 17 30180956 G null H R 132 132 0.000392465 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs748888956 17q11.2 17 30180964 G null N D 135 135 missense 0.956 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1463607717 17q11.2 17 30180974 C null V A 138 138 missense 0.962 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1905272747 17q11.2 17 30180973 A null V I 138 138 missense 0.783 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs2143010461 17q11.2 17 30180977 A null G D 139 139 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1370531864 17q11.2 17 30180982 A null E K 141 141 missense 0.988 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs778242274 17q11.2 17 30180989 C null V A 143 143 missense 0.005 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1441914944 17q11.2 17 30180988 A null V I 143 143 missense 0.003 benign 0.06 tolerated 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs747663072 17q11.2 17 30180992 T null P L 144 144 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs747663072 17q11.2 17 30180992 G null P R 144 144 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1213958963 17q11.2 17 30180999 G null C W 146 146 missense 0.891 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1384124079 17q11.2 17 30181002 G null S R 147 147 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1597623050 17q11.2 17 30181001 C null S T 147 147 missense 0.994 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs773119002 17q11.2 17 30181005 A null F L 148 148 missense 0.005 benign 0.44 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs144072900 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30181006 T null R C 149 149 missense 0.987 probably damaging 0.01 deleterious 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201919501 17q11.2 17 30181007 A null R H 149 149 missense 0.415 benign 0.02 deleterious 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs776853452 17q11.2 17 30181015 G null R G 152 152 missense 0.025 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs759629179 17q11.2 17 30181016 A null R K 152 152 missense 0.025 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1165027669 17q11.2 17 30184620 C null G A 154 154 missense 0.001 benign 0.14 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1165027669 17q11.2 17 30184620 A null G D 154 154 missense 0.061 benign 0.1 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1905439146 17q11.2 17 30184619 C null G R 154 154 missense 0.001 benign 0.21 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1406078246 17q11.2 17 30184626 C null K T 156 156 missense 0.943 probably damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1905439900 17q11.2 17 30184628 A null E K 157 157 missense 0.005 benign 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1407741265 17q11.2 17 30184632 G null E G 158 158 missense 0.69 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs370966796 17q11.2 17 30184644 C null G A 162 162 missense 0.348 benign 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1905440744 17q11.2 17 30184643 A null G S 162 162 missense 0.321 benign 0.44 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs370966796 17q11.2 17 30184644 T null G V 162 162 missense 0.949 probably damaging 0.05 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1905441179 17q11.2 17 30184650 T null S F 164 164 missense 0.003 benign 0.22 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs201551307 17q11.2 17 30184652 G null N D 165 165 missense 0.0 benign 1.0 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs201551307 17q11.2 17 30184652 C null N H 165 165 missense 0.087 benign 0.0 deleterious 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs769963022 17q11.2 17 30184653 G null N S 165 165 missense 0.006 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs755157083 17q11.2 17 30184656 C null E A 166 166 missense 0.994 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs375558524 17q11.2 17 30184661 G null S G 168 168 missense 0.0 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs375558524 17q11.2 17 30184661 C null S R 168 168 missense 0.072 benign 0.12 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs764209337 17q11.2 17 30184668 G null K R 170 170 missense 0.0 benign 0.75 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1346061397 17q11.2 17 30184670 C null N H 171 171 missense 0.007 benign 0.09 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs762366162 17q11.2 17 30184672 G null N K 171 171 missense 0.061 benign 0.13 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1209131799 17q11.2 17 30184674 C null R T 172 172 missense 0.711 possibly damaging 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs768102631 17q11.2 17 30184677 C null I T 173 173 missense 0.003 benign 0.76 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1375926302 17q11.2 17 30184680 T null P L 174 174 missense 0.005 benign 0.14 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,gnomAD rs1486252377 17q11.2 17 30184679 T null P S 174 174 missense 0.009 benign 0.14 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,gnomAD rs1486252377 17q11.2 17 30184679 A null P T 174 174 missense 0.09 benign 0.06 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs913173935 17q11.2 17 30184686 G null E G 176 176 missense 0.122 benign 0.0 deleterious 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1905443810 17q11.2 17 30184692 T null C F 178 178 missense 0.006 benign 0.05 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 dbSNP,dbSNP,gnomAD rs1189713038 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30184697 A null L I 180 180 missense 0.024 benign 0.11 tolerated 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs370384526 17q11.2 17 30184706 A null D N 183 183 missense 0.015 benign 0.51 tolerated 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1469872676 17q11.2 17 30184709 A null V M 184 184 missense 0.023 benign 0.16 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1045563883 17q11.2 17 30184713 G null K R 185 185 missense 0.16 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1905444525 17q11.2 17 30184715 C null V L 186 186 missense 0.017 benign 0.29 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1356622616 17q11.2 17 30184721 A null E K 188 188 missense 0.003 benign 0.2 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs752326325 17q11.2 17 30184728 T null P L 190 190 missense 0.907 possibly damaging 0.11 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs764863885 17q11.2 17 30184727 T null P S 190 190 missense 0.867 possibly damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs777217408 17q11.2 17 30184734 G null A G 192 192 missense 0.678 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs2143011358 17q11.2 17 30184733 A null A T 192 192 missense 0.565 possibly damaging 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1597625124 17q11.2 17 30184737 G null D G 193 193 missense 0.996 probably damaging 0.0 deleterious 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs746980453 17q11.2 17 30184736 C null D H 193 193 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,gnomAD rs536310311 17q11.2 17 30184741 A null S R 194 194 0.000196232 missense 0.012 benign 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1905446651 17q11.2 17 30184743 T null D V 195 195 missense 0.93 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1442542729 17q11.2 17 30184746 A null F Y 196 196 missense 0.209 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs781089931 17q11.2 17 30184748 A null D N 197 197 missense 0.047 benign 0.09 tolerated 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs781089931 17q11.2 17 30184748 T null D Y 197 197 missense 0.249 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1905447785 17q11.2 17 30184754 G null K E 199 199 missense 0.0 benign 0.21 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs745710731 17q11.2 17 30184756 T null K N 199 199 missense 0.0 benign 0.21 tolerated 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1279976533 17q11.2 17 30184758 A null S N 200 200 missense 0.007 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1382657594 17q11.2 17 30184761 A null S N 201 201 missense 0.847 possibly damaging 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs775581263 17q11.2 17 30184760 C null S R 201 201 missense 0.893 possibly damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1401108241 17q11.2 17 30184763 A null A T 202 202 missense 0.003 benign 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148657875 17q11.2 17 30184764 T null A V 202 202 missense 0.012 benign 0.0 deleterious 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs774610044 17q11.2 17 30184767 G null D G 203 203 missense 0.441 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1437347100 17q11.2 17 30184766 A null D N 203 203 missense 0.04 benign 0.1 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1905450890 17q11.2 17 30184777 G null I M 206 206 missense 0.0 benign 0.23 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs761957472 17q11.2 17 30184776 C null I T 206 206 missense 0.003 benign 0.67 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1905451312 17q11.2 17 30184778 T null E * 207 207 stop gained 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1567809239 17q11.2 17 30184782 T null E V 208 208 missense 0.194 benign 0.07 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1905452433 17q11.2 17 30184797 A null C Y 213 213 missense 0.0 benign 0.97 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1467564210 17q11.2 17 30184803 A null R K 215 215 missense 0.009 benign 0.42 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1467564210 17q11.2 17 30184803 C null R T 215 215 missense 0.203 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1905453148 17q11.2 17 30184805 A null E K 216 216 missense 0.0 benign 0.63 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1467766691 17q11.2 17 30184808 G null K E 217 217 missense 0.003 benign 0.36 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs146216710 17q11.2 17 30184811 A null V I 218 218 missense 0.0 benign 0.25 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs146216710 17q11.2 17 30184811 C null V L 218 218 missense 0.003 benign 0.36 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1447549887 17q11.2 17 30184830 T null N I 224 224 missense 0.0 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,TOPMed,gnomAD rs374953834 17q11.2 17 30184831 G null N K 224 224 missense 0.0 benign 0.56 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs367942780 17q11.2 17 30184835 A null F I 226 226 missense 0.003 benign 0.15 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs367942780 17q11.2 17 30184835 C null F L 226 226 missense 0.0 benign 0.27 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1716052032 17q11.2 17 30184836 C null F S 226 226 missense 0.0 benign 1.0 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs367942780 17q11.2 17 30184835 G null F V 226 226 missense 0.0 benign 0.36 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1332730150 17q11.2 17 30184839 G null K R 227 227 missense 0.003 benign 0.21 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1905454651 17q11.2 17 30184844 G null H D 229 229 missense 0.061 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1332020185 17q11.2 17 30184846 A null H Q 229 229 missense 0.006 benign 0.2 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs763705384 17q11.2 17 30184845 G null H R 229 229 missense 0.003 benign 0.19 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1905454983 17q11.2 17 30184849 C null R S 230 230 missense 0.041 benign 0.12 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1905455241 17q11.2 17 30184857 G null N S 233 233 missense 0.0 benign 0.89 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs751122250 17q11.2 17 30184860 G null H R 234 234 missense 0.0 benign 0.14 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs2143011391 17q11.2 17 30184859 T null H Y 234 234 missense 0.114 benign 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs116966685 17q11.2 17 30184866 A null R Q 236 236 missense 0.001 benign 0.11 tolerated 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs146547631 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30184865 T null R W 236 236 0.0002 missense 0.001 benign 0.01 deleterious 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs755882248 17q11.2 17 30184874 G null S G 239 239 missense 0.055 benign 0.13 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1905457520 17q11.2 17 30184876 A null S R 239 239 missense 0.965 probably damaging 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs755882248 17q11.2 17 30184874 C null S R 239 239 missense 0.965 probably damaging 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1213273778 17q11.2 17 30184883 G null R G 242 242 missense 0.001 benign 0.11 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1905457887 17q11.2 17 30184884 C null R T 242 242 missense 0.127 benign 0.07 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs769044389 17q11.2 17 30184892 T null S C 245 245 missense 0.222 benign 0.06 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs769044389 17q11.2 17 30184892 G null S G 245 245 missense 0.0 benign 1.0 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs767964691 17q11.2 17 30184893 A null S N 245 245 missense 0.014 benign 0.2 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1905458721 17q11.2 17 30184896 T null T I 246 246 missense 0.0 benign 0.07 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs748304304 17q11.2 17 30184908 T null T M 250 250 missense 0.544 possibly damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs773603188 17q11.2 17 30184914 T null G V 252 252 missense 0.053 benign 0.22 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,dbSNP,dbSNP,gnomAD rs766687348 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 17q11.2 17 30184919 T null R * 254 254 stop gained 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,TOPMed,dbSNP,dbSNP,gnomAD rs372875096 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30184920 A null R Q 254 254 missense 0.001 benign 0.17 tolerated 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,dbSNP,dbSNP rs777094250 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30184923 T null T M 255 255 missense 0.12 benign 0.1 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs763799172 17q11.2 17 30184926 T null S L 256 256 missense 0.0 benign 0.07 tolerated 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP rs368477825 17q11.2 17 30184929 A null R K 257 257 missense 0.001 benign 0.14 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1567809338 17q11.2 17 30184935 G null H R 259 259 missense 0.007 benign 0.21 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1346565424 17q11.2 17 30184934 T null H Y 259 259 missense 0.48 possibly damaging 0.11 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs761320116 17q11.2 17 30184944 A null R K 262 262 missense 0.0 benign 0.18 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs761320116 17q11.2 17 30184944 C null R T 262 262 missense 0.156 benign 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1280226476 17q11.2 17 30184946 A null E K 263 263 missense 0.059 benign 0.24 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs2143011423 17q11.2 17 30184951 G null D E 264 264 missense 0.041 benign 0.43 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1332722944 17q11.2 17 30184949 T null D Y 264 264 missense 0.003 benign 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs2143011426 17q11.2 17 30184954 T null Q H 265 265 missense 0.0 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs750357312 17q11.2 17 30184953 C null Q P 265 265 missense 0.0 benign 0.07 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1266289108 17q11.2 17 30184955 T null H Y 266 266 missense 0.263 benign 0.2 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1979572 17q11.2 17 30184960 C null Q H 267 267 missense 0.297 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs779830066 17q11.2 17 30184961 T null Q * 268 268 stop gained 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs753740317 17q11.2 17 30184962 G null Q R 268 268 missense 0.006 benign 0.23 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1195728591 17q11.2 17 30184965 G null K R 269 269 missense 0.0 benign 1.0 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1905463131 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30184971 T null S F 271 271 missense 0.001 benign 0.17 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,gnomAD rs561206034 17q11.2 17 30184978 G null D E 273 273 0.000196232 missense 0.003 benign 0.42 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1415077496 17q11.2 17 30184976 A null D N 273 273 missense 0.005 benign 0.09 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs148978796 17q11.2 17 30184979 G null Q E 274 274 missense 0.0 benign 0.36 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs777871847 17q11.2 17 30184980 G null Q R 274 274 missense 0.0 benign 0.15 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1451171875 17q11.2 17 30184982 A null E K 275 275 missense 0.266 benign 0.07 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1451171875 17q11.2 17 30184982 C null E Q 275 275 missense 0.532 possibly damaging 0.05 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1413226005 17q11.2 17 30184988 G null H D 277 277 missense 0.041 benign 0.39 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1157248115 17q11.2 17 30184989 T null H L 277 277 missense 0.01 benign 0.62 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1905464686 17q11.2 17 30184991 C null Y H 278 278 missense 0.0 benign 0.44 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,TOPMed,gnomAD rs147077641 17q11.2 17 30184995 T null T I 279 279 missense 0.0 benign 0.21 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs747030474 17q11.2 17 30184994 T null T S 279 279 missense 0.027 benign 0.43 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,TOPMed,gnomAD rs147077641 17q11.2 17 30184995 G null T S 279 279 missense 0.027 benign 0.43 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs187800283 17q11.2 17 30184999 A null D E 280 280 0.000392465 missense 0.104 benign 0.55 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs376766098 17q11.2 17 30185000 T null R C 281 281 missense 0.544 possibly damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs376766098 17q11.2 17 30185000 G null R G 281 281 missense 0.061 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,dbSNP,dbSNP,gnomAD rs770079774 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30185001 A null R H 281 281 missense 0.005 benign 0.24 tolerated 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs770079774 17q11.2 17 30185001 T null R L 281 281 missense 0.061 benign 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1275636693 17q11.2 17 30185007 G null Y C 283 283 missense 0.446 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs201232538 17q11.2 17 30185010 A null R Q 284 284 missense 0.0 benign 0.76 tolerated 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs193177731 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30185009 T null R W 284 284 0.0002 missense 0.0 benign 0.06 tolerated 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1567809456 17q11.2 17 30185012 G null K E 285 285 missense 0.001 benign 0.11 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1567809456 17q11.2 17 30185012 C null K Q 285 285 missense 0.085 benign 0.06 tolerated 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1311441116 17q11.2 17 30185016 G null E G 286 286 missense 0.003 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs760087006 17q11.2 17 30185015 A null E K 286 286 missense 0.209 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs766405951 17q11.2 17 30185018 G null R G 287 287 missense 0.006 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1182004983 17q11.2 17 30185019 A null R K 287 287 missense 0.0 benign 1.0 tolerated 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs117171982 17q11.2 17 30185021 A null D N 288 288 missense 0.167 benign 0.06 tolerated 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1286689057 17q11.2 17 30185022 T null D V 288 288 missense 0.473 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs778801204 17q11.2 17 30185027 G null H D 290 290 missense 0.194 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs937176449 17q11.2 17 30185029 A null H Q 290 290 missense 0.285 benign 0.05 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs753000082 17q11.2 17 30185028 G null H R 290 290 missense 0.223 benign 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs778801204 17q11.2 17 30185027 T null H Y 290 290 missense 0.001 benign 0.09 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs146387574 17q11.2 17 30185034 G null H R 292 292 missense 0.384 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs777836514 17q11.2 17 30185039 A null E K 294 294 missense 0.034 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1434639383 17q11.2 17 30185042 T null A S 295 295 missense 0.003 benign 0.74 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1434639383 17q11.2 17 30185042 A null A T 295 295 missense 0.001 benign 0.59 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1459845098 17q11.2 17 30185043 T null A V 295 295 missense 0.024 benign 0.31 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1597625394 17q11.2 17 30185047 A null S R 296 296 missense 0.006 benign 0.3 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1306602370 17q11.2 17 30185050 A null H Q 297 297 missense 0.076 benign 0.07 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1389932103 17q11.2 17 30185049 G null H R 297 297 missense 0.027 benign 0.15 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1303561276 17q11.2 17 30185045_30185051 p null R K 298 298 stop gained 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1377848780 17q11.2 17 30185057 C null S P 300 300 missense 0.465 possibly damaging 0.11 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs12950401 17q11.2 17 30185061 T null H L 301 301 missense 0.059 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs781669705 17q11.2 17 30185062 A null H Q 301 301 missense 0.009 benign 0.07 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs12950401 17q11.2 17 30185061 G null H R 301 301 missense 0.119 benign 0.09 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,gnomAD rs550614524 17q11.2 17 30185073 G null H R 305 305 0.000196232 missense 0.076 benign 0.2 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs12950413 17q11.2 17 30185077 C null E D 306 306 missense 0.19 benign 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs12947131 17q11.2 17 30185075 A null E K 306 306 0.000588697 missense 0.91 probably damaging 0.03 deleterious 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1905471550 17q11.2 17 30185078 T null Q * 307 307 stop gained 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1905471706 17q11.2 17 30185079 T null Q L 307 307 missense 0.053 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs187315102 17q11.2 17 30185091 T null P L 311 311 0.000784929 missense 0.001 benign 0.8 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs187315102 17q11.2 17 30185091 A null P Q 311 311 0.000784929 missense 0.006 benign 0.95 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1238423620 17q11.2 17 30185096 A null A T 313 313 missense 0.0 benign 0.04 deleterious 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs760235374 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30185097 T null A V 313 313 missense 0.006 benign 0.03 deleterious 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1433168648 17q11.2 17 30185105 T null Q * 316 316 stop gained 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1282440002 17q11.2 17 30185112 G null E G 318 318 missense 0.892 possibly damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1905473349 17q11.2 17 30185111 A null E K 318 318 missense 0.783 possibly damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs759505460 17q11.2 17 30185114 G null R G 319 319 missense 0.0 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs765237204 17q11.2 17 30185117 G null S G 320 320 missense 0.003 benign 0.16 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1460538053 17q11.2 17 30185120 A null D N 321 321 missense 0.02 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1252343741 17q11.2 17 30185124 T null R I 322 322 missense 0.806 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1252343741 17q11.2 17 30185124 C null R T 322 322 missense 0.666 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC rs758114727 17q11.2 17 30185126 A null V I 323 323 missense 0.011 benign 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs2143011501 17q11.2 17 30185131 T null W C 324 324 missense 0.645 possibly damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1301040890 17q11.2 17 30185138 A null E K 327 327 missense 0.005 benign 0.3 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1905475144 17q11.2 17 30185142 G null K R 328 328 missense 0.019 benign 0.27 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1219546668 17q11.2 17 30185144 A null D N 329 329 missense 0.769 possibly damaging 0.14 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1905475735 17q11.2 17 30185147 G null R G 330 330 missense 0.001 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs764444794 17q11.2 17 30185150 A null E K 331 331 missense 0.103 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs757374562 17q11.2 17 30185155 T null K N 332 332 missense 0.022 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed rs751669510 17q11.2 17 30185154 G null K R 332 332 missense 0.0 benign 0.13 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1905476526 17q11.2 17 30185156 C null Y H 333 333 missense 0.703 possibly damaging 0.5 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1258139812 17q11.2 17 30185163 G null Q R 335 335 missense 0.01 benign 0.32 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1211417395 17q11.2 17 30185172 G null Q R 338 338 missense 0.069 benign 0.87 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs745914377 17q11.2 17 30185179 T null R S 340 340 missense 0.024 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs781203044 17q11.2 17 30185178 C null R T 340 340 missense 0.046 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs780521815 17q11.2 17 30185181 C null D A 341 341 missense 0.042 benign 0.09 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs780521815 17q11.2 17 30185181 G null D G 341 341 missense 0.042 benign 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,gnomAD rs375254014 17q11.2 17 30185180 C null D H 341 341 missense 0.005 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1427250030 17q11.2 17 30185183 G null R G 342 342 missense 0.543 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1905478328 17q11.2 17 30185186 T null Q * 343 343 stop gained 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1424390556 17q11.2 17 30185187 C null Q P 343 343 missense 0.0 benign 0.31 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs749725761 17q11.2 17 30185191 C null Q H 344 344 missense 0.062 benign 0.09 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs746189146 17q11.2 17 30185192 G null N D 345 345 missense 0.049 benign 0.05 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1436651657 17q11.2 17 30185195 T null D Y 346 346 missense 0.269 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1905479059 17q11.2 17 30185198 A null Q K 347 347 missense 0.0 benign 1.0 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs772930615 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 17q11.2 17 30185204 T null R * 349 349 missense 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1436945801 17q11.2 17 30185205 A null R Q 349 349 missense 0.01 benign 0.07 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs746591228 17q11.2 17 30185208 T null P L 350 350 missense 0.0 benign 0.51 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,TOPMed,gnomAD rs368129693 17q11.2 17 30185216 G null K E 353 353 missense 0.028 benign 0.14 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1905479949 17q11.2 17 30185219 A null G R 354 354 missense 0.039 benign 0.2 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs770594411 17q11.2 17 30185227 T null K N 356 356 missense 0.042 benign 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1319349706 17q11.2 17 30185231 A null E K 358 358 missense 0.003 benign 0.13 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1272180795 17q11.2 17 30185238 A null S N 360 360 missense 0.0 benign 0.31 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs891259879 17q11.2 17 30185243 A null A T 362 362 missense 0.026 benign 0.07 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1905481580 17q11.2 17 30185244 T null A V 362 362 missense 0.036 benign 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1567809635 17q11.2 17 30185246 G null K E 363 363 missense 0.147 benign 0.16 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs2143011543 17q11.2 17 30185256 G null H R 366 366 missense 0.771 possibly damaging 0.23 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1192216198 17q11.2 17 30185259 C null M T 367 367 missense 0.0 benign 0.63 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs759097578 17q11.2 17 30185258 G null M V 367 367 missense 0.0 benign 1.0 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs765323379 17q11.2 17 30185265 G null V G 369 369 missense 0.0 benign 0.36 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1429089479 17q11.2 17 30185264 C null V L 369 369 missense 0.0 benign 0.24 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1193536277 17q11.2 17 30185268 A null R K 370 370 missense 0.007 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 dbSNP rs1485203990 [ClinVar]: Microcephaly, [ClinVar]: Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities pubmed:34385670 17q11.2 17 30185269 p null K null 371 371 frameshift 0 Microcephaly ClinVar:RCV001647271 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 dbSNP rs1485203990 [ClinVar]: Microcephaly, [ClinVar]: Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities pubmed:34385670 17q11.2 17 30185269 p null K null 371 371 frameshift 0 Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities (NEDSSBA) MIM:620001 ClinVar:RCV002275363 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1478264019 17q11.2 17 30185273 A null E K 372 372 missense 0.365 benign 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1478855544 17q11.2 17 30185280 G null Y C 374 374 missense 0.0 benign 0.07 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1905484438 17q11.2 17 30185279 C null Y H 374 374 missense 0.0 benign 0.21 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1406169378 17q11.2 17 30185287 A null N K 376 376 missense 0.0 benign 0.25 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1905482526 17q11.2 17 30185264_30185285 p null N S 376 376 stop gained 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1417644208 17q11.2 17 30185294 G null K E 379 379 missense 0.145 benign 0.06 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1905485794 17q11.2 17 30185296 T null K N 379 379 missense 0.43 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs763743042 17q11.2 17 30185299 G null Y * 380 380 stop gained 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs751832321 17q11.2 17 30185300 G null R G 381 381 missense 0.005 benign 0.04 deleterious 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs372452182 17q11.2 17 30185301 A null R K 381 381 missense 0.218 benign 0.12 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs138101458 17q11.2 17 30185305 G null D E 382 382 0.000981162 missense 0.007 benign 0.3 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs374804942 17q11.2 17 30185311 C null E D 384 384 missense 0.0 benign 0.14 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1351514186 17q11.2 17 30185313 G null K R 385 385 missense 0.001 benign 0.22 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115609438 17q11.2 17 30185315 T null R * 386 386 missense 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115609438 17q11.2 17 30185315 G null R G 386 386 missense 0.0 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs143123894 17q11.2 17 30185316 A null R Q 386 386 missense 0.0 benign 0.58 tolerated 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 dbSNP rs2143011578 [ClinVar]: NSRP1-related disorder 17q11.2 17 30185321 l null EV * 387 388 stop gained 0 NSRP1-related disorder ClinVar:RCV002250963 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1393117666 17q11.2 17 30185320 T null E D 387 387 missense 0.005 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1292512448 17q11.2 17 30185321 A null V I 388 388 missense 0.0 benign 0.38 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1292512448 17q11.2 17 30185321 C null V L 388 388 missense 0.0 benign 0.42 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs755392730 17q11.2 17 30185325 C null G A 389 389 missense 0.0 benign 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs755392730 17q11.2 17 30185325 A null G D 389 389 missense 0.0 benign 0.09 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs749699044 17q11.2 17 30185324 C null G R 389 389 missense 0.0 benign 0.06 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1905488761 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30185328 G null V G 390 390 missense 0.0 benign 0.25 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1597625683 17q11.2 17 30185327 A null V I 390 390 missense 0.019 benign 0.23 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs748513327 17q11.2 17 30185333 A null S T 392 392 missense 0.015 benign 0.29 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs200205592 17q11.2 17 30185341 C null E D 394 394 0.000392465 missense 0.151 benign 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1597625688 17q11.2 17 30185340 G null E G 394 394 missense 0.003 benign 0.06 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,gnomAD rs148231103 17q11.2 17 30185339 A null E K 394 394 0.000196232 missense 0.009 benign 0.07 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs745438267 17q11.2 17 30185343 T null R I 395 395 missense 0.815 possibly damaging 0.01 deleterious 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs745438267 17q11.2 17 30185343 A null R K 395 395 missense 0.029 benign 0.41 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1183786116 17q11.2 17 30185345 G null N D 396 396 missense 0.0 benign 0.34 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs2143011590 17q11.2 17 30185349 G null Q R 397 397 missense 0.0 benign 1.0 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1418892821 17q11.2 17 30185357 C null K Q 400 400 missense 0.084 benign 0.06 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 dbSNP rs2143011593 [ClinVar]: Microcephaly, [ClinVar]: Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities pubmed:34385670 17q11.2 17 30185356_30185359 l null E null 401 401 frameshift 0 Microcephaly ClinVar:RCV001647270 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 dbSNP rs2143011593 [ClinVar]: Microcephaly, [ClinVar]: Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities pubmed:34385670 17q11.2 17 30185356_30185359 l null E null 401 401 frameshift 0 Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities (NEDSSBA) MIM:620001 ClinVar:RCV002275362 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs775515026 17q11.2 17 30185361 G null E G 401 401 missense 0.784 possibly damaging 0.14 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs369195228 17q11.2 17 30185370 T null P L 404 404 missense 0.652 possibly damaging 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs369195228 17q11.2 17 30185370 A null P Q 404 404 missense 0.719 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs774060605 17q11.2 17 30185372 G null N D 405 405 missense 0.0 benign 0.64 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs774060605 17q11.2 17 30185372 C null N H 405 405 missense 0.057 benign 0.11 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1340512368 17q11.2 17 30185379 A null R K 407 407 missense 0.0 benign 0.71 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1340512368 17q11.2 17 30185379 C null R T 407 407 missense 0.019 benign 0.43 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1449530389 17q11.2 17 30185381 T null A S 408 408 missense 0.082 benign 0.39 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs761579774 17q11.2 17 30185384 G null K E 409 409 missense 0.013 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1377505069 17q11.2 17 30185385 G null K R 409 409 missense 0.022 benign 0.09 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1239881855 17q11.2 17 30185388 G null D G 410 410 missense 0.147 benign 0.05 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs117582579 17q11.2 17 30185387 C null D H 410 410 0.00569074 missense 0.609 possibly damaging 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs117582579 17q11.2 17 30185387 A null D N 410 410 0.00569074 missense 0.009 benign 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1310446437 17q11.2 17 30185391 G null K R 411 411 missense 0.0 benign 0.77 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1356541985 17q11.2 17 30185393 C null F L 412 412 missense 0.0 benign 0.66 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1417919382 17q11.2 17 30185397 A null L H 413 413 missense 0.349 benign 0.24 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,dbSNP,dbSNP,gnomAD rs1209327451 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30185396 A null L I 413 413 missense 0.011 benign 0.15 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1209327451 17q11.2 17 30185396 G null L V 413 413 missense 0.0 benign 0.24 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1905493277 17q11.2 17 30185400 T null D V 414 414 missense 0.721 possibly damaging 0.05 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1905493567 17q11.2 17 30185402 G null Q E 415 415 missense 0.0 benign 0.46 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1251707388 17q11.2 17 30185403 G null Q R 415 415 missense 0.0 benign 0.52 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs766396463 17q11.2 17 30185409 A null R K 417 417 missense 0.0 benign 0.69 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1905494422 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30185411 C null S P 418 418 missense 0.0 benign 0.09 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1597625772 17q11.2 17 30185431 C null M I 424 424 missense 0.001 benign 0.13 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs753063662 17q11.2 17 30185429 G null M V 424 424 missense 0.0 benign 0.36 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1291456458 17q11.2 17 30185432 C null A P 425 425 missense 0.045 benign 0.17 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1452543134 17q11.2 17 30185437 C null K N 426 426 missense 0.515 possibly damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1905495744 17q11.2 17 30185438 A null D N 427 427 missense 0.005 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1905495874 17q11.2 17 30185441 G null K E 428 428 missense 0.001 benign 0.06 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1905496182 17q11.2 17 30185442 G null K R 428 428 missense 0.0 benign 0.5 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs141753156 17q11.2 17 30185447 G null R G 430 430 missense 0.0 benign 0.17 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1415694563 17q11.2 17 30185448 C null R T 430 430 missense 0.042 benign 0.15 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs780996736 17q11.2 17 30185451 G null N S 431 431 missense 0.019 benign 0.18 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1415508168 17q11.2 17 30185454 G null Q R 432 432 missense 0.012 benign 0.36 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1905497282 17q11.2 17 30185456 A null E K 433 433 missense 0.021 benign 0.21 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1905497408 17q11.2 17 30185462 G null P A 435 435 missense 0.0 benign 0.19 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,dbSNP,dbSNP rs745462894 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30185463 T null P L 435 435 missense 0.0 benign 0.13 tolerated 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1253838206 17q11.2 17 30185466 T null S F 436 436 missense 0.342 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs866042181 17q11.2 17 30185472 T null S F 438 438 missense 0.939 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1379537386 17q11.2 17 30185476 T null E D 439 439 missense 0.164 benign 0.06 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,TOPMed,gnomAD rs373476348 17q11.2 17 30185475 G null E G 439 439 missense 0.009 benign 0.13 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,TOPMed,gnomAD rs373476348 17q11.2 17 30185475 T null E V 439 439 missense 0.731 possibly damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1231475063 17q11.2 17 30185478 T null S L 440 440 missense 0.0 benign 0.25 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1291054838 17q11.2 17 30185481 T null S L 441 441 missense 0.003 benign 0.25 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs779393708 17q11.2 17 30185483 A null L M 442 442 missense 0.608 possibly damaging 0.15 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs779393708 17q11.2 17 30185483 G null L V 442 442 missense 0.166 benign 0.59 tolerated 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs748803640 17q11.2 17 30185487 A null G E 443 443 missense 0.146 benign 0.5 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1905499556 17q11.2 17 30185486 A null G R 443 443 missense 0.282 benign 0.09 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs748803640 17q11.2 17 30185487 T null G V 443 443 missense 0.282 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs2143011649 17q11.2 17 30185496 G null H R 446 446 missense 0.006 benign 0.47 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs200921290 17q11.2 17 30185499 A null R K 447 447 0.000196232 missense 0.019 benign 0.57 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs200921290 17q11.2 17 30185499 C null R T 447 447 0.000196232 missense 0.29 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs760846065 17q11.2 17 30185502 A null L H 448 448 missense 0.245 benign 0.15 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,gnomAD rs372340051 17q11.2 17 30185508 G null E G 450 450 missense 0.024 benign 0.12 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1905500636 17q11.2 17 30185507 A null E K 450 450 missense 0.767 possibly damaging 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs753912294 17q11.2 17 30185510 A null E K 451 451 missense 0.003 benign 0.16 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1378138303 17q11.2 17 30185514 A null G E 452 452 missense 0.0 benign 1.0 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs146235514 17q11.2 17 30185513 A null G R 452 452 missense 0.0 benign 0.82 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs758847520 17q11.2 17 30185523 T null K M 455 455 missense 0.003 benign 0.18 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs778237398 17q11.2 17 30185529 G null K R 457 457 missense 0.0 benign 0.13 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1332989910 17q11.2 17 30185534 A null Q K 459 459 missense 0.001 benign 0.26 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1463345116 17q11.2 17 30185538 G null E G 460 460 missense 0.089 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1391773763 17q11.2 17 30185537 C null E Q 460 460 missense 0.015 benign 0.37 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1905502725 17q11.2 17 30185541 A null R K 461 461 missense 0.0 benign 1.0 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs755875308 17q11.2 17 30185544 T null P L 462 462 missense 0.005 benign 0.07 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs371790916 17q11.2 17 30185547 T null P L 463 463 missense 0.01 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1332248439 17q11.2 17 30185555 A null V M 466 466 missense 0.017 benign 0.64 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1567809892 17q11.2 17 30185563 T null K N 468 468 missense 0.996 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs779739700 17q11.2 17 30185565 C null F S 469 469 missense 0.994 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs866668828 17q11.2 17 30185568 A null A E 470 470 missense 0.996 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs778726681 17q11.2 17 30185574 A null R Q 472 472 missense 0.991 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs377148450 17q11.2 17 30185573 T null R W 472 472 missense 0.998 probably damaging 0.0 deleterious 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ESP,ExAC,TOPMed,gnomAD rs369889777 17q11.2 17 30185580 G null N S 474 474 missense 0.011 benign 0.26 tolerated 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs746784442 17q11.2 17 30185586 G null E G 476 476 missense 0.348 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1477875611 17q11.2 17 30185595 C null M T 479 479 missense 0.001 benign 0.05 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs771118226 17q11.2 17 30185594 G null M V 479 479 missense 0.025 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs776908088 17q11.2 17 30185618 T null A S 487 487 missense 0.991 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs759541223 17q11.2 17 30185629 A null M I 490 490 missense 0.955 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1475231575 17q11.2 17 30185627 G null M V 490 490 missense 0.934 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs572953048 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30185631 T null A V 491 491 0.0002 missense 0.995 probably damaging 0.01 deleterious 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs559964855 17q11.2 17 30185634 T null R L 492 492 missense 0.991 probably damaging 0.0 deleterious 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,TOPMed,gnomAD rs559964855 17q11.2 17 30185634 A null R Q 492 492 missense 0.991 probably damaging 0.01 deleterious 1 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs543227737 17q11.2 17 30185633 T null R W 492 492 0 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1340390424 17q11.2 17 30185637 G null V G 493 493 missense 0.175 benign 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1400695653 17q11.2 17 30185639 G null N D 494 494 missense 0.053 benign 0.13 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1905507954 17q11.2 17 30185642 C null A P 495 495 missense 0.962 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1338983709 17q11.2 17 30185645 G null K E 496 496 missense 0.991 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1265855184 17q11.2 17 30185652 G null Y C 498 498 missense 0.997 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs765948540 17q11.2 17 30185654 T null I F 499 499 missense 0.994 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs765948540 17q11.2 17 30185654 G null I V 499 499 missense 0.969 probably damaging 0.08 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 gnomAD rs1905509126 17q11.2 17 30185658 G null E G 500 500 missense 0.995 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 Ensembl rs1905509287 17q11.2 17 30185660 G null K E 501 501 missense 0.991 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed,gnomAD rs1447258866 17q11.2 17 30185661 G null K R 501 501 missense 0.991 probably damaging 0.03 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 ExAC,gnomAD rs753470842 17q11.2 17 30185668 A null D E 503 503 missense 0.003 benign 1.0 tolerated 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 1000Genomes,gnomAD rs540335133 17q11.2 17 30185667 G null D G 503 503 0.000196232 missense 0.33 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Nuclear speckle splicing regulatory protein 1 TOPMed rs1214090837 17q11.2 17 30185672 A null * R 505 505 stop lost 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs776970258 5p15.33 5 306614 A null R H 4 4 missense 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs201302366 5p15.33 5 306613 A null R S 4 4 missense 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c Ensembl,dbSNP,dbSNP rs1244037334 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5p15.33 5 306628 A null G S 9 9 missense 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs766012558 5p15.33 5 306631 A null V M 10 10 missense 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed rs1740507220 5p15.33 5 306640 G null S G 13 13 missense 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c dbSNP,dbSNP,gnomAD rs1560860970 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5p15.33 5 306641 C null S T 13 13 missense 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c gnomAD rs772839574 5p15.33 5 306643 A null E K 14 14 missense 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs751042838 5p15.33 5 306650 T null T M 16 16 missense 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ESP,TOPMed,dbSNP,dbSNP,gnomAD rs372244838 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5p15.33 5 306671 T null T M 23 23 missense 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs777478206 5p15.33 5 306685 A null V I 28 28 missense 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs758565797 5p15.33 5 306691 T null R C 30 30 missense 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs111451538 5p15.33 5 306692 A null R H 30 30 missense 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs545985005 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5p15.33 5 306695 T null T M 31 31 missense 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs377279142 5p15.33 5 306715 A null G R 38 38 missense 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed,gnomAD rs919592414 5p15.33 5 306724 A null D N 41 41 missense 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs369997630 5p15.33 5 306748 G null L V 49 49 missense 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs373052818 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5p15.33 5 306760 A null G S 53 53 missense 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs776613586 5p15.33 5 311299 A null R Q 55 55 missense 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c gnomAD rs1355076299 5p15.33 5 311341 G null D G 69 69 missense 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs767684079 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5p15.33 5 311352 T null R W 73 73 missense 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed,dbSNP,dbSNP,gnomAD rs996549656 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5p15.33 5 311364 A null A T 77 77 missense 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed,dbSNP,dbSNP,gnomAD rs1378816110 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5p15.33 5 311373 A null D N 80 80 missense 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs371288200 5p15.33 5 311394 A null V I 87 87 missense 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs201011657 5p15.33 5 314438 T null R C 97 97 missense 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs139334790 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5p15.33 5 314439 A null R H 97 97 0.0004 missense 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs370878298 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5p15.33 5 314480 A null E K 111 111 missense 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,dbSNP,dbSNP,gnomAD rs745705216 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5p15.33 5 314510 A null V I 121 121 missense 1 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed,gnomAD rs1002689539 10q21.2 10 60780179 T null T I 5 5 missense 0.0 benign 0.29 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed,gnomAD rs1002689539 10q21.2 10 60780179 A null T N 5 5 missense 0.003 benign 0.39 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 Ensembl rs1035478197 10q21.2 10 60780184 T null I L 7 7 missense 0.0 benign 0.25 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed rs1468681761 10q21.2 10 60780185 C null I T 7 7 missense 0.089 benign 0.02 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 gnomAD rs1179034229 10q21.2 10 60780195 G null I M 10 10 missense 0.942 probably damaging 0.0 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ExAC,gnomAD rs745479111 10q21.2 10 60780194 C null I T 10 10 missense 0.585 possibly damaging 0.01 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed,gnomAD rs1201393937 10q21.2 10 60784708 G null T S 14 14 missense 0.654 possibly damaging 0.01 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed,gnomAD rs1403343549 10q21.2 10 60784712 A null Y * 15 15 stop gained 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed,gnomAD rs1335188877 10q21.2 10 60784729 C null G A 21 21 missense 0.0 benign 0.72 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed,gnomAD rs2080301172 10q21.2 10 60784736 G null H Q 23 23 missense 0.006 benign 0.03 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ExAC rs111992007 10q21.2 10 60784735 G null H R 23 23 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ExAC,gnomAD rs745660582 10q21.2 10 60784740 C null T P 25 25 missense 0.006 benign 0.2 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ESP,TOPMed,gnomAD rs377117179 10q21.2 10 60784750 G null Q R 28 28 missense 0.0 benign 0.24 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 Ensembl rs754755265 10q21.2 10 60784752 T null V L 29 29 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 Ensembl rs754755265 10q21.2 10 60784752 A null V M 29 29 missense 0.0 benign 0.31 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ExAC,gnomAD rs771969255 10q21.2 10 60784755 T null V L 30 30 missense 0.021 benign 0.0 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 Ensembl rs2080301489 10q21.2 10 60784770 T null I F 35 35 missense 0.054 benign 0.0 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed rs1370963471 10q21.2 10 60784783 A null S N 39 39 missense 0.0 benign 0.34 tolerated - low confidence 1 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ExAC,gnomAD rs746720738 10q21.2 10 60784785 A null E K 40 40 missense 0.015 benign 0.0 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 gnomAD rs1297673130 10q21.2 10 60784797 A null V I 44 44 missense 0.005 benign 0.19 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ExAC,gnomAD rs768015814 10q21.2 10 60784806 T null T S 47 47 missense 0.928 probably damaging 0.0 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 gnomAD rs1454245611 10q21.2 10 60784809 A null A T 48 48 missense 0.114 benign 0.02 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ESP,ExAC,TOPMed,gnomAD rs142650572 10q21.2 10 60784812 G null I V 49 49 missense 0.021 benign 0.11 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed,dbSNP,dbSNP rs1312102931 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q21.2 10 60784815 T null R W 50 50 missense 0.995 probably damaging 0.0 deleterious - low confidence 1 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed,gnomAD rs1323937308 10q21.2 10 60784821 G null I V 52 52 missense 0.018 benign 0.07 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 Ensembl rs2080301904 10q21.2 10 60784824 A null S T 53 53 missense 0.043 benign 0.04 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 gnomAD rs1230964680 10q21.2 10 60784836 C null E Q 57 57 missense 0.563 possibly damaging 0.0 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed,gnomAD rs1173075218 10q21.2 10 60784839 T null L F 58 58 missense 0.313 benign 0.0 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed,gnomAD rs1173075218 10q21.2 10 60784839 A null L I 58 58 missense 0.466 possibly damaging 0.01 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ESP,ExAC,TOPMed,gnomAD rs8755 10q21.2 10 60784842 T null R C 59 59 missense 0.057 benign 0.03 deleterious - low confidence 1 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ESP,ExAC,TOPMed,gnomAD rs8755 10q21.2 10 60784842 G null R G 59 59 missense 0.216 benign 0.05 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ExAC,gnomAD rs773501650 10q21.2 10 60784843 A null R H 59 59 missense 0.0 benign 0.21 tolerated - low confidence 1 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed,dbSNP,dbSNP,gnomAD rs1238716954 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q21.2 10 60784848 T null P S 61 61 missense 0.023 benign 0.02 deleterious - low confidence 1 A0A024QZP7 CDK1 Cyclin dependent kinase 1 gnomAD rs1460089100 10q21.2 10 60785665 T null L F 66 66 missense 0.904 possibly damaging 0.01 deleterious - low confidence 1 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ExAC,gnomAD rs768316764 10q21.2 10 60785673 A null D E 68 68 missense 0.001 benign 0.12 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 gnomAD rs985951399 10q21.2 10 60785674 A null V M 69 69 missense 0.85 possibly damaging 0.01 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ExAC,gnomAD rs780626115 10q21.2 10 60785677 T null L F 70 70 missense 0.102 benign 0.0 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 Ensembl,dbSNP,dbSNP rs11540347 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 10q21.2 10 60785683 T null Q * 72 72 stop gained 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ExAC,gnomAD rs747663798 10q21.2 10 60785688 G null D E 73 73 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 Ensembl rs1589111889 10q21.2 10 60785743 T null D Y 92 92 missense 0.835 possibly damaging 0.0 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ExAC,gnomAD rs771169549 10q21.2 10 60785763 C null Q H 98 98 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed rs374332309 10q21.2 10 60785767 G null M V 100 100 missense 0.006 benign 0.04 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ExAC,gnomAD rs759629291 10q21.2 10 60785770 T null D Y 101 101 missense 0.114 benign 0.0 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 gnomAD rs1465016560 10q21.2 10 60785783 C null V A 105 105 missense 0.532 possibly damaging 0.0 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ExAC,TOPMed,gnomAD rs761017140 10q21.2 10 60788061 A null S N 107 107 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed rs2080330905 10q21.2 10 60788070 G null Y C 110 110 missense 0.098 benign 0.01 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed,gnomAD rs2080330936 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q21.2 10 60788075 C null I L 112 112 missense 0.0 benign 0.4 tolerated - low confidence 1 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed,gnomAD rs1482350274 10q21.2 10 60788082 G null Q R 114 114 missense 0.0 benign 0.22 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed rs1261981012 10q21.2 10 60788102 G null S A 121 121 missense 0.003 benign 0.22 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 Ensembl rs2080331154 10q21.2 10 60788103 G null S C 121 121 missense 0.003 benign 0.14 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ExAC,gnomAD rs199958833 10q21.2 10 60788112 G null V G 124 124 missense 0.99 probably damaging 0.0 deleterious - low confidence 1 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed rs2080331206 10q21.2 10 60788111 A null V I 124 124 missense 0.0 benign 0.29 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 Ensembl rs2080331285 10q21.2 10 60788114 T null L F 125 125 missense 0.049 benign 0.01 deleterious - low confidence 1 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed,gnomAD rs2080331443 10q21.2 10 60788155 A null D E 138 138 missense 0.0 benign 0.65 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 1000Genomes,ExAC,TOPMed,gnomAD rs563327821 10q21.2 10 60788154 T null D V 138 138 0.000196232 missense 0.0 benign 0.15 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ExAC,gnomAD rs767353239 10q21.2 10 60788156 C null K Q 139 139 missense 0.003 benign 0.13 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 Ensembl rs2132071363 10q21.2 10 60788157 G null K R 139 139 missense 0.0 benign 0.17 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ExAC,gnomAD rs752316620 10q21.2 10 60788163 T null T I 141 141 missense 0.0 benign 0.42 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed,gnomAD rs1397780496 10q21.2 10 60788165 G null I V 142 142 missense 0.011 benign 0.01 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 gnomAD rs1287451334 10q21.2 10 60788195 A null A T 152 152 missense 0.029 benign 0.03 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ExAC,TOPMed,gnomAD rs748844693 10q21.2 10 60788210 G null I V 157 157 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ExAC,gnomAD rs756782434 10q21.2 10 60788225 T null H Y 162 162 missense 0.494 possibly damaging 0.0 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 Ensembl rs2132071440 10q21.2 10 60788232 T null A V 164 164 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 Ensembl rs2080362855 10q21.2 10 60791895 G null I M 165 165 missense 0.005 benign 0.0 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 Ensembl rs2132075420 10q21.2 10 60791911 C null S P 171 171 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ExAC,gnomAD rs759513279 10q21.2 10 60791930 C null G A 177 177 missense 0.369 benign 0.0 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 Ensembl rs2080362913 10q21.2 10 60791929 A null G R 177 177 missense 0.83 possibly damaging 0.0 deleterious - low confidence 1 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ExAC,gnomAD rs767261283 10q21.2 10 60791936 G null A G 179 179 missense 0.011 benign 0.23 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 gnomAD rs1322570597 10q21.2 10 60791938 T null R C 180 180 missense 0.029 benign 0.0 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 1000Genomes,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs45540532 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q21.2 10 60791939 A null R H 180 180 0.0002 missense 0.0 benign 0.14 tolerated - low confidence 1 A0A024QZP7 CDK1 Cyclin dependent kinase 1 1000Genomes,ExAC,TOPMed,gnomAD rs45540532 10q21.2 10 60791939 T null R L 180 180 missense 0.003 benign 0.03 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed,gnomAD rs1234513195 10q21.2 10 60791954 C null V A 185 185 missense 0.867 possibly damaging 0.01 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 Ensembl rs2132075467 10q21.2 10 60791959 C null I L 187 187 missense 0.005 benign 0.02 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ExAC,TOPMed,gnomAD rs753490763 10q21.2 10 60791977 G null I V 193 193 missense 0.506 possibly damaging 0.03 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ExAC,gnomAD rs756767206 10q21.2 10 60791989 A null L I 197 197 missense 0.005 benign 0.04 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed,gnomAD rs2080363407 10q21.2 10 60791992 A null A T 198 198 missense 0.003 benign 0.04 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed rs2080363538 10q21.2 10 60792007 G null L V 203 203 missense 0.369 benign 0.0 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 Ensembl rs944914584 10q21.2 10 60792046 G null I V 216 216 missense 0.434 benign 0.01 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed rs2080364821 10q21.2 10 60792155 A null G S 221 221 missense 0.258 benign 0.1 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 Ensembl rs2080364888 10q21.2 10 60792164 G null N D 224 224 missense 0.001 benign 0.22 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ExAC,gnomAD rs764750612 10q21.2 10 60792169 G null N K 225 225 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 gnomAD rs1408749415 10q21.2 10 60792174 G null V G 227 227 missense 0.063 benign 0.05 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ExAC,gnomAD rs749964005 10q21.2 10 60792173 C null V L 227 227 missense 0.0 benign 0.18 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ExAC,gnomAD rs749964005 10q21.2 10 60792173 A null V M 227 227 missense 0.001 benign 0.09 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ESP,TOPMed,gnomAD rs373718394 10q21.2 10 60792195 C null L S 234 234 missense 0.902 possibly damaging 0.0 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed rs1271439313 10q21.2 10 60792197 G null Q E 235 235 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed,dbSNP,dbSNP rs1198047745 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q21.2 10 60792208 T null K N 238 238 missense 0.525 possibly damaging 0.02 deleterious - low confidence 1 A0A024QZP7 CDK1 Cyclin dependent kinase 1 gnomAD rs1342614799 10q21.2 10 60792210 G null N S 239 239 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed,gnomAD rs2080365331 10q21.2 10 60792222 T null K I 243 243 missense 0.04 benign 0.02 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed,gnomAD rs2080365331 10q21.2 10 60792222 G null K R 243 243 missense 0.0 benign 0.2 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ExAC,gnomAD rs755351843 10q21.2 10 60792229 T null K N 245 245 missense 0.001 benign 0.18 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed rs2080365370 10q21.2 10 60792228 C null K T 245 245 missense 0.033 benign 0.46 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ExAC,TOPMed,gnomAD rs748366106 10q21.2 10 60792237 A null S N 248 248 missense 0.0 benign 0.78 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 gnomAD rs1208109737 10q21.2 10 60792242 A null A T 250 250 missense 0.0 benign 0.29 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed,gnomAD rs1373397632 10q21.2 10 60792243 T null A V 250 250 missense 0.0 benign 0.1 tolerated - low confidence 1 A0A024QZP7 CDK1 Cyclin dependent kinase 1 Ensembl rs113211927 10q21.2 10 60792245 A null S T 251 251 missense 0.0 benign 0.45 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367855803 10q21.2 10 60792250 A null H Q 252 252 0.000196232 missense 0.0 benign 0.33 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 Ensembl rs2080365738 10q21.2 10 60792264 T null D V 257 257 missense 0.103 benign 0.0 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed,gnomAD rs755852078 10q21.2 10 60792271 G null N K 259 259 missense 0.0 benign 0.31 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 Ensembl rs2080365763 10q21.2 10 60792270 C null N T 259 259 missense 0.0 benign 0.19 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed rs2080365841 10q21.2 10 60792276 C null L S 261 261 missense 0.761 possibly damaging 0.01 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs749375137 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q21.2 10 60792288 T null S L 265 265 missense 0.0 benign 0.18 tolerated - low confidence 1 A0A024QZP7 CDK1 Cyclin dependent kinase 1 Ensembl rs1386995645 10q21.2 10 60793890 G null Y C 270 270 missense 0.166 benign 0.0 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 Ensembl rs1589115619 10q21.2 10 60793902 G null K R 274 274 missense 0.0 benign 0.23 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ESP,gnomAD rs142476851 10q21.2 10 60793908 C null I T 276 276 missense 0.777 possibly damaging 0.03 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ExAC,gnomAD rs35671174 10q21.2 10 60793917 G null K R 279 279 missense 0.0 benign 0.38 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 1000Genomes rs2132077390 10q21.2 10 60793928 C null N H 283 283 missense 0.0 benign 0.12 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 ExAC,gnomAD rs777969351 10q21.2 10 60793929 G null N S 283 283 missense 0.0 benign 0.62 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 gnomAD rs1382290424 10q21.2 10 60793935 T null P L 285 285 missense 0.038 benign 0.01 deleterious - low confidence 1 A0A024QZP7 CDK1 Cyclin dependent kinase 1 Ensembl rs2080378727 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q21.2 10 60793934 T null P S 285 285 missense 0.024 benign 0.09 tolerated - low confidence 1 A0A024QZP7 CDK1 Cyclin dependent kinase 1 Ensembl rs11540348 10q21.2 10 60793943 G null N D 288 288 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed,gnomAD rs1260427336 10q21.2 10 60793952 T null D Y 291 291 missense 0.065 benign 0.0 deleterious - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 gnomAD rs1388236578 10q21.2 10 60793955 G null N D 292 292 missense 0.003 benign 0.38 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 gnomAD rs1388236578 10q21.2 10 60793955 C null N H 292 292 missense 0.006 benign 0.19 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed rs1162806554 10q21.2 10 60793956 G null N S 292 292 missense 0.003 benign 0.61 tolerated - low confidence 0 A0A024QZP7 CDK1 Cyclin dependent kinase 1 TOPMed,gnomAD rs2080379172 10q21.2 10 60793963-6079396 T null K * 295 295 stop gained 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1321577231 6p24.3 6 8430048 C null N S 6 6 missense 0.001 benign 0.18 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs775155225 6p24.3 6 8430040 C null R G 9 9 missense 0.003 benign 0.06 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1383314040 6p24.3 6 8430037 C null K E 10 10 missense 0.095 benign 0.06 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs767415866 6p24.3 6 8430036 G null K T 10 10 missense 0.479 possibly damaging 0.03 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs759459928 6p24.3 6 8430032 C null Y * 11 11 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1357661654 6p24.3 6 8430033 C null Y C 11 11 missense 0.538 possibly damaging 0.06 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1357661654 6p24.3 6 8430033 G null Y S 11 11 missense 0.006 benign 0.17 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs2113516828 6p24.3 6 8430025 C null I V 14 14 missense 0.104 benign 0.15 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs2113516730 6p24.3 6 8430021 A null T I 15 15 missense 0.269 benign 0.03 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1191834197 6p24.3 6 8430022 A null T S 15 15 missense 0.003 benign 1.0 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1218260045 6p24.3 6 8430018 G null V A 16 16 missense 0.041 benign 0.03 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,gnomAD rs550117055 6p24.3 6 8430019 T null V M 16 16 missense 0.015 benign 0.06 tolerated 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs770966789 6p24.3 6 8430010 C null K E 19 19 missense 0.054 benign 0.21 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1763812873 6p24.3 6 8430004 C null Q E 21 21 missense 0.0 benign 0.76 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs146380653 6p24.3 6 8430002 G null Q H 21 21 missense 0.0 benign 0.04 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs776313854 6p24.3 6 8430001 C null T A 22 22 missense 0.0 benign 0.93 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs769923765 6p24.3 6 8429998 C null M V 23 23 missense 0.011 benign 0.13 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1232953560 6p24.3 6 8429995 T null S T 24 24 missense 0.04 benign 0.06 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1271544234 6p24.3 6 8429988 C null H R 26 26 missense 0.153 benign 0.06 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1763810301 6p24.3 6 8429986 C null I V 27 27 missense 0.04 benign 0.27 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs748468172 6p24.3 6 8429979 A null S L 29 29 missense 0.012 benign 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs768233424 6p24.3 6 8429972 C null D E 31 31 missense 0.0 benign 0.78 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs781394644 6p24.3 6 8429974 G null D H 31 31 missense 0.346 benign 0.03 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs781394644 6p24.3 6 8429974 T null D N 31 31 missense 0.05 benign 0.16 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs371562817 6p24.3 6 8429971 T null D N 32 32 missense 0.208 benign 0.1 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1474587073 6p24.3 6 8429967 G null V A 33 33 missense 0.031 benign 0.04 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1474587073 6p24.3 6 8429967 T null V D 33 33 missense 0.198 benign 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141964463 6p24.3 6 8429968 T null V I 33 33 missense 0.0 benign 0.85 tolerated 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1763806089 6p24.3 6 8429965 G null V L 34 34 missense 0.013 benign 0.66 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1241233616 6p24.3 6 8429962 T null V I 35 35 missense 0.056 benign 0.61 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1241233616 6p24.3 6 8429962 A null V L 35 35 missense 0.031 benign 0.44 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs753410372 6p24.3 6 8429959 A null L F 36 36 missense 0.186 benign 0.12 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1278137628 6p24.3 6 8429955 T null G D 37 37 missense 0.947 probably damaging 0.09 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1763804787 6p24.3 6 8429956 T null G S 37 37 missense 0.922 probably damaging 0.25 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs969026360 6p24.3 6 8429951 T null M I 38 38 missense 0.0 benign 1.0 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1763803290 6p24.3 6 8429946 C null L R 40 40 missense 0.988 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1763803570 6p24.3 6 8429947 C null L V 40 40 missense 0.737 possibly damaging 0.08 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP rs376659169 6p24.3 6 8429943 A null S I 41 41 missense 0.478 possibly damaging 0.01 deleterious 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs755719090 6p24.3 6 8429941 C null K E 42 42 missense 0.007 benign 0.54 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1763802199 6p24.3 6 8429937 C null F C 43 43 missense 0.015 benign 0.14 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1212440197 6p24.3 6 8429936 T null F L 43 43 missense 0.001 benign 0.39 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,TOPMed,gnomAD rs201086048 6p24.3 6 8429931 C null K R 45 45 0.000196232 missense 0.001 benign 0.58 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,TOPMed,gnomAD rs201086048 6p24.3 6 8429931 G null K T 45 45 0.000196232 missense 0.003 benign 0.25 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs866436116 6p24.3 6 8429929 A null L F 46 46 missense 0.001 benign 0.23 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs759366208 6p24.3 6 8429928 T null L H 46 46 missense 0.322 benign 0.25 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1763799332 6p24.3 6 8429925 A null T I 47 47 missense 0.005 benign 0.2 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1763799332 6p24.3 6 8429925 C null T S 47 47 missense 0.005 benign 0.4 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed rs766329109 6p24.3 6 8429923 A null Q * 48 48 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed rs766329109 6p24.3 6 8429923 C null Q E 48 48 missense 0.892 possibly damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs202129168 6p24.3 6 8429922 G null Q P 48 48 missense 0.988 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs202129168 6p24.3 6 8429922 C null Q R 48 48 missense 0.931 probably damaging 0.06 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1763797481 6p24.3 6 8429916 C null F C 50 50 missense 0.015 benign 0.12 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs769972205 6p24.3 6 8429914 G null I L 51 51 missense 0.039 benign 0.44 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs769972205 6p24.3 6 8429914 C null I V 51 51 missense 0.142 benign 0.22 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl,dbSNP,dbSNP rs866348642 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p24.3 6 8429910 A null C F 52 52 missense 0.974 probably damaging 0.0 deleterious 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs866348642 6p24.3 6 8429910 T null C Y 52 52 missense 0.99 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1409377975 6p24.3 6 8429868 C null L * 66 66 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,dbSNP,dbSNP rs1168371677 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 6p24.3 6 8429866 A null Q * 67 67 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,dbSNP,dbSNP,gnomAD rs780769115 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p24.3 6 8428058 T null E K 68 68 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs754632276 6p24.3 6 8428043 T null V M 73 73 missense 0.027 benign 0.14 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs751281602 6p24.3 6 8428039 C null E G 74 74 missense 0.074 benign 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1581262764 6p24.3 6 8428040 T null E K 74 74 missense 0.146 benign 0.11 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs758226161 6p24.3 6 8428037 T null G S 75 75 missense 0.994 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs750284085 6p24.3 6 8428034 G null F L 76 76 missense 0.275 benign 0.04 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs138204292 6p24.3 6 8428033 G null F S 76 76 missense 0.979 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs138204292 6p24.3 6 8428033 T null F Y 76 76 missense 0.742 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1581262695 6p24.3 6 8428027 C null S C 78 78 missense 0.844 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1581262695 6p24.3 6 8428027 A null S F 78 78 missense 0.8 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1284454918 6p24.3 6 8428028 G null S P 78 78 missense 0.0 benign 1.0 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1487119062 6p24.3 6 8428025 G null C R 79 79 missense 0.0 benign 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs372940131 6p24.3 6 8428024 T null C Y 79 79 missense 0.0 benign 0.76 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1262930903 6p24.3 6 8428021 A null G V 80 80 missense 0.999 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs764335719 6p24.3 6 8428018 T null W * 81 81 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs200429479 6p24.3 6 8428017 T null W * 81 81 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs200429479 6p24.3 6 8428017 A null W C 81 81 missense 0.99 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs764335719 6p24.3 6 8428018 G null W S 81 81 missense 0.98 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs774675272 6p24.3 6 8428014 C null Y * 82 82 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1236616659 6p24.3 6 8428015 C null Y C 82 82 missense 0.994 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs759977461 6p24.3 6 8428016 C null Y D 82 82 missense 0.989 probably damaging 0.0 deleterious 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs759977461 6p24.3 6 8428016 T null Y N 82 82 missense 0.984 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs771486685 6p24.3 6 8428013 A null L F 83 83 missense 0.995 probably damaging 0.0 deleterious 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1763598025 6p24.3 6 8428012 C null L R 83 83 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs747547737 6p24.3 6 8428010 C null T A 84 84 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1763596798 6p24.3 6 8428006 G null L S 85 85 missense 0.996 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs768201981 6p24.3 6 8428003 G null V A 86 86 missense 0.762 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 dbSNP,dbSNP,gnomAD rs1286903715 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 6p24.3 6 8428001 A null Q * 87 87 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1763595383 6p24.3 6 8427999 G null Q H 87 87 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,gnomAD rs200049584 6p24.3 6 8428000 G null Q P 87 87 missense 0.999 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1581262506 6p24.3 6 8427988 A null Y F 91 91 missense 0.995 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1763594394 6p24.3 6 8427989 G null Y H 91 91 missense 0.998 probably damaging 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1763593353 6p24.3 6 8427985 A null S F 92 92 missense 0.986 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs779708076 6p24.3 6 8427986 G null S P 92 92 missense 0.99 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1763592671 6p24.3 6 8427982 G null I T 93 93 missense 0.421 benign 0.11 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs758075645 6p24.3 6 8427983 C null I V 93 93 missense 0.009 benign 0.52 tolerated 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs757213109 6p24.3 6 8427970 G null I T 97 97 missense 0.147 benign 0.14 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1455268111 6p24.3 6 8427971 C null I V 97 97 missense 0.009 benign 0.92 tolerated 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs753774868 6p24.3 6 8427967 G null E A 98 98 missense 0.953 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,gnomAD rs535191243 6p24.3 6 8427965 A null L F 99 99 0.000196232 missense 0.912 probably damaging 0.36 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1185160530 6p24.3 6 8427960 G null Q H 100 100 missense 0.952 probably damaging 0.14 tolerated 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1763589358 6p24.3 6 8427955 G null I T 102 102 missense 0.001 benign 0.84 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1763588634 6p24.3 6 8427951 A null Q H 103 103 missense 0.069 benign 0.19 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1763588987 6p24.3 6 8427952 C null Q R 103 103 missense 0.031 benign 0.41 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1390025524 6p24.3 6 8427948 C null D E 104 104 missense 0.186 benign 0.34 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1485799904 6p24.3 6 8427950 T null D N 104 104 missense 0.186 benign 0.17 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141256356 6p24.3 6 8427946 C null K R 105 105 0.000784929 missense 0.021 benign 0.31 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs2113480898 6p24.3 6 8427943 T null R K 106 106 missense 0.119 benign 0.53 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1213691857 6p24.3 6 8427940 T null R K 107 107 missense 0.992 probably damaging 0.06 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1345789676 6p24.3 6 8427937 T null R K 108 108 missense 0.249 benign 0.51 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs765743302 6p24.3 6 8422619 C null P R 110 110 missense 0.999 probably damaging 0.0 deleterious 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1763006330 6p24.3 6 8422616 T null G E 111 111 missense 0.459 possibly damaging 0.22 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1248576002 6p24.3 6 8422605 G null M L 115 115 missense 0.013 benign 0.92 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs760110146 6p24.3 6 8422604 G null M T 115 115 missense 0.527 possibly damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1248576002 6p24.3 6 8422605 C null M V 115 115 missense 0.057 benign 0.33 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1469081754 6p24.3 6 8422602 A null I L 116 116 missense 0.006 benign 1.0 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1211616803 6p24.3 6 8422600 C null I M 116 116 missense 0.157 benign 0.1 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs774976524 6p24.3 6 8422601 C null I R 116 116 missense 0.611 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1280037639 6p24.3 6 8422592 C null F C 119 119 missense 0.985 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1291536851 6p24.3 6 8422593 G null F L 119 119 missense 0.074 benign 0.28 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1763003147 6p24.3 6 8422589 G null L P 120 120 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs771537703 6p24.3 6 8422590 C null L V 120 120 missense 0.969 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs770722268 6p24.3 6 8422584 G null V L 122 122 missense 0.127 benign 0.48 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs770722268 6p24.3 6 8422584 T null V M 122 122 missense 0.962 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1763001517 6p24.3 6 8422578 A null T S 124 124 missense 0.953 probably damaging 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs954770019 6p24.3 6 8422574 G null M T 125 125 missense 0.952 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1763000965 6p24.3 6 8422575 C null M V 125 125 missense 0.54 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1328296423 6p24.3 6 8422572 G null G R 126 126 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1581247111 6p24.3 6 8422569 C null L V 127 127 missense 0.951 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1460169827 6p24.3 6 8422565 T null S * 128 128 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1159636485 6p24.3 6 8422563 C null N D 129 129 missense 0.997 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs777796568 6p24.3 6 8422550 G null G A 133 133 missense 0.953 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs777796568 6p24.3 6 8422550 T null G D 133 133 missense 0.995 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1490196666 6p24.3 6 8422537 T null Y * 137 137 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs769861644 6p24.3 6 8422539 G null Y H 137 137 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1284766780 6p24.3 6 8422535 A null P L 138 138 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1284766780 6p24.3 6 8422535 C null P R 138 138 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs2113385966 6p24.3 6 8422536 A null P S 138 138 missense 1.0 probably damaging 0.0 deleterious 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1434125999 6p24.3 6 8422530 C null Q E 140 140 missense 0.957 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs748167381 6p24.3 6 8422526 G null V A 141 141 missense 0.995 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs961790317 6p24.3 6 8422521 G null F L 143 143 missense 0.917 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1159389371 6p24.3 6 8422516 G null K N 144 144 missense 1.0 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1362627500 6p24.3 6 8422517 C null K R 144 144 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs907580615 6p24.3 6 8422511 A null C F 146 146 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs907580615 6p24.3 6 8422511 T null C Y 146 146 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs996300470 6p24.3 6 8422500 C null P A 150 150 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs987342097 6p24.3 6 8422496 G null V A 151 151 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1234423632 6p24.3 6 8422497 G null V L 151 151 missense 1.0 probably damaging 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1372589241 6p24.3 6 8422493 T null M K 152 152 missense 0.985 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1178581274 6p24.3 6 8422494 C null M V 152 152 missense 0.829 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs780159985 6p24.3 6 8422488 G null G R 154 154 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1306002420 6p24.3 6 8422478 C null F C 157 157 missense 0.844 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,dbSNP,dbSNP,gnomAD rs1171854322 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p24.3 6 8420823 A null R C 162 162 missense 0.993 probably damaging 0.0 deleterious 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs781019652 6p24.3 6 8420822 T null R H 162 162 missense 0.993 probably damaging 0.02 deleterious 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1420530083 6p24.3 6 8420820 G null Y H 163 163 missense 0.944 probably damaging 0.03 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs768730553 6p24.3 6 8420815 T null N K 164 164 missense 0.358 benign 0.13 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs747069121 6p24.3 6 8420814 T null V I 165 165 missense 0.003 benign 0.62 tolerated 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1188557955 6p24.3 6 8420810 A null A V 166 166 missense 0.005 benign 0.28 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs951065823 6p24.3 6 8420807 C null D G 167 167 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1486612721 6p24.3 6 8420808 A null D Y 167 167 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs780251782 6p24.3 6 8420801 C null S C 169 169 missense 0.037 benign 0.13 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1581241963 6p24.3 6 8420799 G null A P 170 170 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed rs758613946 6p24.3 6 8420793 A null I L 172 172 missense 0.0 benign 1.0 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed rs758613946 6p24.3 6 8420793 C null I V 172 172 missense 0.0 benign 0.59 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs750702343 6p24.3 6 8420790 C null C G 173 173 missense 0.318 benign 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs750702343 6p24.3 6 8420790 G null C R 173 173 missense 0.76 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1223485557 6p24.3 6 8420787 C null M V 174 174 missense 0.977 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1274641474 6p24.3 6 8420783 G null S T 175 175 missense 0.184 benign 0.29 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs2113354729 6p24.3 6 8420781 C null L V 176 176 missense 0.046 benign 0.43 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1212496479 6p24.3 6 8420777 A null G V 177 177 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs757657651 6p24.3 6 8420774 G null L P 178 178 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs754331760 6p24.3 6 8420769 G null W R 180 180 missense 0.898 possibly damaging 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs764533271 6p24.3 6 8420757 A null A S 184 184 missense 0.951 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs764533271 6p24.3 6 8420757 T null A T 184 184 missense 0.688 possibly damaging 0.02 deleterious 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs759029245 6p24.3 6 8420753 G null D A 185 185 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs371235196 6p24.3 6 8420751 C null S G 186 186 missense 0.912 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1581241782 6p24.3 6 8420750 T null S N 186 186 missense 0.335 benign 0.05 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1355238003 6p24.3 6 8420748 C null T A 187 187 missense 0.04 benign 0.17 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,TOPMed,gnomAD rs202083548 6p24.3 6 8420745 C null T A 188 188 0.000196232 missense 0.028 benign 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs976505388 6p24.3 6 8420744 A null T I 188 188 missense 0.0 benign 0.33 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs868600649 6p24.3 6 8420742 A null A S 189 189 missense 0.129 benign 1.0 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,TOPMed,gnomAD rs139697376 6p24.3 6 8420723 A null T M 195 195 0.000196232 missense 0.959 probably damaging 0.2 tolerated 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs901366430 6p24.3 6 8419675 T null V M 197 197 missense 0.936 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1253726598 6p24.3 6 8419664 C null I M 200 200 missense 0.929 probably damaging 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1195377442 6p24.3 6 8419665 C null I S 200 200 missense 0.963 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs753309521 6p24.3 6 8419662 A null S F 201 201 missense 0.244 benign 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1439098245 6p24.3 6 8419663 T null S T 201 201 missense 0.404 benign 0.04 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs765968010 6p24.3 6 8419651 G null C R 205 205 missense 0.98 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs758025919 6p24.3 6 8419647 A null A V 206 206 missense 0.936 probably damaging 0.03 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1762716286 6p24.3 6 8419644 C null D G 207 207 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs750043929 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p24.3 6 8419639 T null V I 209 209 missense 0.176 benign 0.38 tolerated 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs371936863 6p24.3 6 8419635 G null I T 210 210 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1762715132 6p24.3 6 8419632 T null G E 211 211 missense 1.0 probably damaging 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1253203388 6p24.3 6 8419633 T null G R 211 211 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1554118100 6p24.3 6 8419627 T null V I 213 213 missense 0.688 possibly damaging 0.07 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs868404113 6p24.3 6 8419624 A null Q * 214 214 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1463495359 6p24.3 6 8419612 C null M V 218 218 missense 0.957 probably damaging 0.02 deleterious 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs374380164 6p24.3 6 8419609 C null K E 219 219 missense 0.984 probably damaging 0.02 deleterious 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1318060033 6p24.3 6 8419607 A null K N 219 219 missense 0.992 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs2113331581 6p24.3 6 8419605 G null L P 220 220 missense 0.403 benign 0.26 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1286368371 6p24.3 6 8419603 T null H N 221 221 missense 0.585 possibly damaging 0.03 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs761598438 6p24.3 6 8419602 C null H R 221 221 missense 0.97 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1286368371 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p24.3 6 8419603 A null H Y 221 221 missense 0.074 benign 0.75 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs776282547 6p24.3 6 8419600 G null N H 222 222 missense 0.731 possibly damaging 0.06 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1762711185 6p24.3 6 8419599 C null N S 222 222 missense 0.015 benign 0.41 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1443461519 6p24.3 6 8419591 C null N D 225 225 missense 0.993 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs764006472 6p24.3 6 8419587 A null S F 226 226 missense 0.959 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1292736767 6p24.3 6 8419581 G null M T 228 228 missense 0.872 possibly damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1196533655 6p24.3 6 8417493 G null V A 229 229 missense 0.97 probably damaging 0.03 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1255637971 6p24.3 6 8417494 T null V I 229 229 missense 0.823 possibly damaging 0.1 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs774410829 6p24.3 6 8417490 G null L S 230 230 missense 0.723 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC rs199599350 6p24.3 6 8417487 C null Y C 231 231 missense 0.997 probably damaging 0.0 deleterious 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1762520909 6p24.3 6 8417488 G null Y H 231 231 missense 0.997 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs200430359 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p24.3 6 8417484 A null S L 232 232 0.0002 missense 0.983 probably damaging 0.0 deleterious 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs748556231 6p24.3 6 8417476 G null I L 235 235 missense 0.026 benign 0.16 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs781734739 6p24.3 6 8417475 G null I T 235 235 missense 0.548 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs748556231 6p24.3 6 8417476 C null I V 235 235 missense 0.025 benign 0.03 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1762516881 6p24.3 6 8417466 C null V G 238 238 missense 0.189 benign 0.07 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144747158 6p24.3 6 8417462 T null Y * 239 239 0.00255102 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC rs778543593 6p24.3 6 8417461 G null I L 240 240 missense 0.145 benign 0.51 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1392713565 6p24.3 6 8417460 G null I T 240 240 missense 0.952 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs190725185 6p24.3 6 8417454 G null L P 242 242 missense 0.692 possibly damaging 0.07 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs190725185 6p24.3 6 8417454 C null L R 242 242 missense 0.619 possibly damaging 0.03 deleterious 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs777503753 6p24.3 6 8417445 A null T I 245 245 missense 0.006 benign 0.39 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1165502797 6p24.3 6 8417446 A null T S 245 245 missense 0.007 benign 0.06 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1561746986 6p24.3 6 8417443 C null C G 246 246 missense 0.179 benign 0.19 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1561746986 6p24.3 6 8417443 G null C R 246 246 missense 0.392 benign 0.08 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1453004882 6p24.3 6 8417440 C null T A 247 247 missense 0.348 benign 0.05 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1581232776 6p24.3 6 8417436 T null S N 248 248 missense 0.001 benign 0.06 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs76955948 6p24.3 6 8417427 T null G D 251 251 missense 0.12 benign 0.2 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs755808845 6p24.3 6 8417421 T null A E 253 253 missense 0.972 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1762510292 6p24.3 6 8417419 T null V I 254 254 missense 0.015 benign 0.47 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs752494448 6p24.3 6 8417416 C null T A 255 255 missense 0.001 benign 1.0 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1178308840 6p24.3 6 8417413 G null F L 256 256 missense 0.913 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,TOPMed,gnomAD rs137936752 6p24.3 6 8417406 C null A G 258 258 missense 0.08 benign 0.25 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,TOPMed,gnomAD rs137936752 6p24.3 6 8417406 A null A V 258 258 missense 0.012 benign 0.37 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1008732309 6p24.3 6 8416989 G null V L 262 262 missense 0.003 benign 0.55 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs755787757 6p24.3 6 8416985 T null R Q 263 263 missense 0.0 benign 0.76 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs777225733 6p24.3 6 8416986 A null R W 263 263 missense 0.528 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs752406652 6p24.3 6 8416982 T null T N 264 264 missense 0.894 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs371087191 6p24.3 6 8416978 C null Y * 265 265 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1487018848 6p24.3 6 8416979 C null Y C 265 265 missense 0.983 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs370759766 6p24.3 6 8416973 C null Y C 267 267 missense 0.958 probably damaging 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs370759766 6p24.3 6 8416973 A null Y F 267 267 missense 0.035 benign 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs754810102 6p24.3 6 8416970 T null A E 268 268 missense 0.784 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs777326370 6p24.3 6 8416971 T null A T 268 268 missense 0.114 benign 0.08 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs754810102 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p24.3 6 8416970 A null A V 268 268 missense 0.057 benign 0.01 deleterious 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1330934958 6p24.3 6 8416964 T null L H 270 270 missense 0.964 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143437815 6p24.3 6 8416965 T null L I 270 270 0.000981162 missense 0.188 benign 0.54 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1330934958 6p24.3 6 8416964 G null L P 270 270 missense 0.948 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1312254586 6p24.3 6 8416956 C null L V 273 273 missense 0.471 possibly damaging 0.15 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1297674489 6p24.3 6 8416952 T null T N 274 274 missense 0.592 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1427570469 6p24.3 6 8416950 A null G * 275 275 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1762463641 6p24.3 6 8416949 G null G A 275 275 missense 0.985 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1762463641 6p24.3 6 8416949 T null G E 275 275 missense 0.995 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs2113280216 6p24.3 6 8416944 C null F V 277 277 missense 0.2 benign 0.09 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1186182171 6p24.3 6 8416940 G null G A 278 278 missense 0.965 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1373493194 6p24.3 6 8416932 G null F L 281 281 missense 0.04 benign 0.08 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs777032338 6p24.3 6 8416931 G null F S 281 281 missense 0.531 possibly damaging 0.03 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1450081465 6p24.3 6 8416928 C null V G 282 282 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,TOPMed,dbSNP,dbSNP,gnomAD rs145512512 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p24.3 6 8416918 A null L F 285 285 missense 0.998 probably damaging 0.01 deleterious 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1211012652 6p24.3 6 8416911 G null I L 288 288 missense 0.001 benign 0.6 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs764511746 6p24.3 6 8416904 T null G D 290 290 missense 0.893 possibly damaging 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs761143598 6p24.3 6 8416901 A null A V 291 291 missense 0.989 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1199579616 6p24.3 6 8416899 A null L F 292 292 missense 0.475 possibly damaging 0.18 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs775801929 6p24.3 6 8416898 T null L H 292 292 missense 0.995 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs772639103 6p24.3 6 8416895 G null I T 293 293 missense 0.021 benign 0.45 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs746429493 6p24.3 6 8416892 C null A G 294 294 missense 0.996 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1762458453 6p24.3 6 8416887 C null T A 296 296 missense 0.9 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs769345087 6p24.3 6 8416884 A null V L 297 297 missense 0.958 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs756161172 6p24.3 6 8414972 C null T A 299 299 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1762287484 6p24.3 6 8414971 T null T K 299 299 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs774762743 6p24.3 6 8414968 T null G E 300 300 missense 0.744 possibly damaging 0.11 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1762287194 6p24.3 6 8414969 T null G R 300 300 missense 0.908 possibly damaging 0.14 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs774762743 6p24.3 6 8414968 A null G V 300 300 missense 0.093 benign 0.29 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,gnomAD rs377709536 6p24.3 6 8414965 A null R I 301 301 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1282550036 6p24.3 6 8414959 T null A E 303 303 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs964980162 6p24.3 6 8414955 T null M I 304 304 missense 0.044 benign 0.26 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1762284650 6p24.3 6 8414950 G null I T 306 306 missense 0.834 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1022320277 6p24.3 6 8414951 C null I V 306 306 missense 0.06 benign 0.03 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs150037099 6p24.3 6 8414948 T null V I 307 307 missense 0.022 benign 0.57 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs780027674 6p24.3 6 8414945 A null L F 308 308 missense 0.689 possibly damaging 0.15 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs374587821 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p24.3 6 8414941 A null S L 309 309 missense 1.0 probably damaging 0.0 deleterious 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1003121144 6p24.3 6 8414942 G null S P 309 309 missense 1.0 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1239589332 6p24.3 6 8414935 G null I T 311 311 missense 0.166 benign 0.03 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1762282254 6p24.3 6 8414932 C null F C 312 312 missense 0.99 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,dbSNP,dbSNP,gnomAD rs1176451855 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p24.3 6 8414931 T null F L 312 312 missense 0.113 benign 0.26 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1002581820 6p24.3 6 8414920 A null P L 316 316 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs758163827 6p24.3 6 8414921 A null P S 316 316 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1267038087 6p24.3 6 8414916 T null F L 317 317 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1286868476 6p24.3 6 8414914 T null T K 318 318 missense 0.991 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,dbSNP,dbSNP,gnomAD rs1286868476 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p24.3 6 8414914 A null T M 318 318 missense 0.997 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs757786010 6p24.3 6 8414910 C null F L 319 319 missense 0.011 benign 0.32 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,gnomAD rs537241906 6p24.3 6 8413699 A null Q H 320 320 0.000196232 missense 0.971 probably damaging 0.09 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1400611401 6p24.3 6 8413697 C null Y C 321 321 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs770986778 6p24.3 6 8413698 G null Y H 321 321 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1361826298 6p24.3 6 8413690 T null W * 323 323 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1361826298 6p24.3 6 8413690 A null W C 323 323 missense 0.997 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs749298011 6p24.3 6 8413686 G null G R 325 325 missense 0.987 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs777978560 6p24.3 6 8413685 A null G V 325 325 missense 0.966 probably damaging 0.0 deleterious 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs371370316 6p24.3 6 8413681 G null L F 326 326 missense 0.05 benign 0.08 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1762157394 6p24.3 6 8413679 G null L S 327 327 missense 0.993 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1177849394 6p24.3 6 8413676 G null V A 328 328 missense 0.993 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1177849394 6p24.3 6 8413676 C null V G 328 328 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1423591720 6p24.3 6 8413668 T null G S 331 331 missense 0.989 probably damaging 0.03 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1191054960 6p24.3 6 8413665 C null I V 332 332 missense 0.729 possibly damaging 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,TOPMed,gnomAD rs188362246 6p24.3 6 8413650 G null Y H 337 337 0.000588697 missense 0.975 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs766799654 6p24.3 6 8413642 A null K N 339 339 missense 0.971 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1762154170 6p24.3 6 8413636 T null M I 341 341 missense 0.003 benign 0.15 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs569798441 6p24.3 6 8413635 T null D N 342 342 missense 0.02 benign 0.33 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs569798441 6p24.3 6 8413635 A null D Y 342 342 missense 0.337 benign 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs763425682 6p24.3 6 8413632 G null K Q 343 343 missense 0.074 benign 0.03 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1310217577 6p24.3 6 8413628 T null I K 344 344 missense 0.038 benign 0.09 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,gnomAD rs372727251 6p24.3 6 8413627 C null I M 344 344 missense 0.003 benign 0.88 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1165365862 6p24.3 6 8413624 G null R S 345 345 missense 0.009 benign 0.33 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs760123801 6p24.3 6 8413619 A null P L 347 347 missense 0.0 benign 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140169332 6p24.3 6 8413620 A null P S 347 347 0.000392465 missense 0.0 benign 0.12 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138555152 6p24.3 6 8413617 G null S P 348 348 missense 0.001 benign 0.08 tolerated 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1402363944 6p24.3 6 8413611 G null Y H 350 350 missense 0.0 benign 0.53 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1762149876 6p24.3 6 8413607 G null D A 351 351 missense 0.0 benign 0.27 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,dbSNP,dbSNP,gnomAD rs546504771 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p24.3 6 8413608 A null D Y 351 351 0.000196232 missense 0.09 benign 0.06 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs184068804 6p24.3 6 8413603 G null L F 352 352 missense 0.185 benign 0.36 tolerated 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs974619578 6p24.3 6 8413599 G null N H 354 354 missense 0.09 benign 0.24 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1561742269 6p24.3 6 8413597 C null N K 354 354 missense 0.0 benign 0.63 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs142786673 6p24.3 6 8413595 G null K T 355 355 missense 0.001 benign 0.19 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1466564596 6p24.3 6 8413592 A null S L 356 356 missense 0.0 benign 0.74 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs908811179 6p24.3 6 8413589 G null V A 357 357 missense 0.0 benign 0.38 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,dbSNP,dbSNP rs1291189899 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p24.3 6 8413590 T null V M 357 357 missense 0.001 benign 0.3 tolerated 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs770900545 6p24.3 6 8413587 T null E K 358 358 missense 0.001 benign 0.86 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs749208348 6p24.3 6 8413584 T null A T 359 359 missense 0.0 benign 0.55 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,TOPMed rs375405898 6p24.3 6 8413574 A null S L 362 362 missense 0.001 benign 0.26 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs769872030 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p24.3 6 8413568 A null T M 364 364 missense 0.319 benign 0.25 tolerated 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs781412205 6p24.3 6 8413565 G null L P 365 365 missense 0.666 possibly damaging 0.06 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs950423574 6p24.3 6 8413562 A null A V 366 366 missense 0.122 benign 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,gnomAD rs201176928 6p24.3 6 8413550 A null * L 370 370 0.000196232 stop lost 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1762142919 6p24.3 6 8413551 G null * Q 370 370 stop lost 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1762142311 6p24.3 6 8413549 A null * Y 370 370 stop lost 0 A0A024QZX5 SERPINB6 Serpin B6 dbSNP rs779093042 6p25.2 6 2959335 C null I V 4 4 missense 0 A0A024QZX5 SERPINB6 Serpin B6 dbSNP rs1225963332 [ClinVar]: Autosomal recessive nonsyndromic hearing loss 91 6p25.2 6 2959330 G null M I 5 5 missense 0 Autosomal recessive nonsyndromic hearing loss 91 MIM:613453 ClinVar:RCV001783729 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,dbSNP,gnomAD rs145375367 6p25.2 6 2959262 A null S L 28 28 missense 1 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs761738216 6p25.2 6 2955646 T null G S 68 68 missense 1 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,dbSNP,gnomAD rs751225761 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p25.2 6 2955604 T null E K 82 82 missense 1 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1770373905 6p25.2 6 2955595 C null K E 85 85 missense 1 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2295769 [ClinVar]: Autosomal recessive nonsyndromic hearing loss 91 pubmed:14702039,pubmed:17974005,pubmed:8136380,pubmed:8415716 6p25.2 6 2955568 C null M V 90 90 missense 1 Autosomal recessive nonsyndromic hearing loss 91 MIM:613453 ClinVar:RCV001807008 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs866592012 6p25.2 6 2955565 T null A T 95 95 missense 1 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1770227068 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p25.2 6 2954703 C null R G 111 111 missense 1 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1770226298 6p25.2 6 2954696 A null S F 113 113 missense 1 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,dbSNP,gnomAD rs146252067 6p25.2 6 2954643 T null V I 131 131 missense 1 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs750577552 6p25.2 6 2953177 A null A V 151 151 missense 1 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1325863623 6p25.2 6 2953175 T null E K 152 152 missense 1 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2295766 [ClinVar]: SERPINB6-related disorder 6p25.2 6 2953160 T null G S 153 153 0.00392465 missense 0 SERPINB6-related disorder ClinVar:RCV003974877 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs764659148 6p25.2 6 2953162 A null P L 156 156 missense 1 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1770004424 6p25.2 6 2953101 C null N K 176 176 missense 1 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,dbSNP,gnomAD rs755523811 6p25.2 6 2949017 A null T I 213 213 missense 1 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,dbSNP,dbSNP,gnomAD rs1201327476 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p25.2 6 2948964 T null E K 231 231 missense 1 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs772585965 6p25.2 6 2948939 A null P L 239 239 missense 1 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs769858532 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p25.2 6 2948934 T null E K 241 241 missense 1 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,dbSNP,gnomAD rs776896710 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p25.2 6 2948915 A null T M 247 247 missense 1 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs1769401498 6p25.2 6 2948678 T null E K 255 255 missense 1 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs779969884 6p25.2 6 2948669 T null V I 258 258 missense 1 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs758304446 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p25.2 6 2948659 A null T M 261 261 missense 1 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs199796495 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p25.2 6 2948633 T null E K 270 270 0.0002 missense 1 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,gnomAD rs150294928 6p25.2 6 2948588 T null D N 285 285 missense 1 A0A024QZX5 SERPINB6 Serpin B6 ExAC,dbSNP,dbSNP,gnomAD rs778841769 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p25.2 6 2948570 A null R C 291 291 missense 1 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,TOPMed,gnomAD rs566604967 6p25.2 6 2948569 T null R H 291 291 missense 1 A0A024QZX5 SERPINB6 Serpin B6 ExAC,dbSNP,gnomAD rs756395142 6p25.2 6 2948548 T null A D 298 298 missense 1 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs1769371738 6p25.2 6 2948508 G null Q H 311 311 missense 1 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs550855004 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p25.2 6 2948483 T null V M 320 320 missense 1 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs750948748 6p25.2 6 2948417 C null M V 342 342 missense 1 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,dbSNP,gnomAD rs760194824 6p25.2 6 2948407 T null R Q 345 345 missense 1 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs61737420 6p25.2 6 2948393 T null V I 350 350 missense 1 A0A024QZX5 SERPINB6 Serpin B6 ExAC,dbSNP,dbSNP,gnomAD rs759080903 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p25.2 6 2948390 A null P S 351 351 missense 1 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs199684069 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p25.2 6 2948375 T null D N 356 356 0.0002 missense 1 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs762701058 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p25.2 6 2948318 T null G S 375 375 missense 1 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,TOPMed,gnomAD rs201117044 6p25.2 6 2948315 A null R C 376 376 missense 1 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs747264946 6p25.2 6 2948305 A null S F 379 379 missense 1 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs369004254 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p25.2 6 2948302 A null P L 380 380 missense 1 A0A024QZX5 SERPINB6 Serpin B6 ExAC,dbSNP,dbSNP,gnomAD rs758863651 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p25.2 6 2948303 A null P S 380 380 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs267605502 19q13.2 19 41708742 T null P L 4 4 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,gnomAD rs201518445 19q13.2 19 41708745 T null S L 5 5 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs782259884 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41709692 A null T N 26 26 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs782202653 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41709704 T null P L 30 30 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813620 19q13.2 19 41709725 T null T I 37 37 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs111403501 19q13.2 19 41709737 T null T M 41 41 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140477498 19q13.2 19 41709751 A null A T 46 46 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1000204119 19q13.2 19 41709798 A null H Q 61 61 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs201178300 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41709826 A null E K 71 71 0.0006 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1555813698 19q13.2 19 41709835 A null D N 74 74 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782789683 19q13.2 19 41709842 C null N T 76 76 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs781851303 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41709844 T null R C 77 77 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs12971352 19q13.2 19 41709853 G null I V 80 80 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28683503 19q13.2 19 41709863 C null V A 83 83 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl,dbSNP,dbSNP rs939162828 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19q13.2 19 41709907 T null R * 98 98 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs34155934 19q13.2 19 41709949 G null I V 112 112 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs35091611 19q13.2 19 41709953 C null I T 113 113 0.129317 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813759 19q13.2 19 41709957 T null Q H 114 114 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs550154092 19q13.2 19 41709985 A null V I 124 124 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs3815780 19q13.2 19 41710025 C null Q P 137 137 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813800 19q13.2 19 41710029 G null F L 138 138 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,dbSNP,dbSNP,gnomAD rs782477374 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41710031 A null R Q 139 139 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs200369485 19q13.2 19 41710030 T null R W 139 139 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813807 19q13.2 19 41710039 G null P A 142 142 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1054821520 19q13.2 19 41714971 T null P L 142 142 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs368068137 19q13.2 19 41715015 A null V M 157 157 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs368142383 19q13.2 19 41715063 A null D N 173 173 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782212178 19q13.2 19 41715066 A null A T 174 174 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782396480 19q13.2 19 41715083 T null W C 179 179 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs781992472 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41715084 A null V I 180 180 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782103200 19q13.2 19 41715088 G null N S 181 181 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs147510914 19q13.2 19 41715097 A null S N 184 184 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs113097830 19q13.2 19 41715103 T null P L 186 186 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1374478613 19q13.2 19 41715133 A null G D 196 196 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs2072499872 19q13.2 19 41715157 G null N S 204 204 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,gnomAD rs562617012 19q13.2 19 41715166 A null R K 207 207 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782039954 19q13.2 19 41715178 A null A E 211 211 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1486684273 19q13.2 19 41715177 A null A T 211 211 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1005474927 19q13.2 19 41715181 A null S N 212 212 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150900406 19q13.2 19 41715219 T null R C 225 225 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs200472113 19q13.2 19 41715656 T null P L 237 237 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,dbSNP,dbSNP,gnomAD rs199857011 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41715661 A null A T 239 239 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1412930045 19q13.2 19 41715676 T null P S 244 244 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs781924507 19q13.2 19 41715703 A null E K 253 253 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs140053609 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41715727 A null A T 261 261 0.0002 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144819038 19q13.2 19 41715740 T null P L 265 265 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782180675 19q13.2 19 41715776 C null F S 277 277 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs781788150 19q13.2 19 41715821 G null N S 292 292 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1600462781 19q13.2 19 41715830 A null G E 295 295 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs782807202 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41715839 T null T M 298 298 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs201986383 19q13.2 19 41715890 T null T M 315 315 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs75927810 19q13.2 19 41717499 A null V M 335 335 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 dbSNP,dbSNP,gnomAD rs1555815248 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41717505 A null D N 337 337 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs2072546524 19q13.2 19 41717563 C null W S 356 356 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782300892 19q13.2 19 41717574 G null N D 360 360 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs534720244 19q13.2 19 41717575 G null N S 360 360 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1555815264 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41717581 A null S N 362 362 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782270981 19q13.2 19 41717583 T null L F 363 363 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,dbSNP,dbSNP,gnomAD rs782730168 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41717596 T null P L 367 367 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs199819373 19q13.2 19 41717626 A null T N 377 377 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs782351981 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41717655 A null D N 387 387 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs199938455 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41717709 A null D N 405 405 0.0002 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,dbSNP,dbSNP rs782016288 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41717722 G null L R 409 409 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs148011427 19q13.2 19 41718139 A null D N 417 417 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150455412 19q13.2 19 41718152 T null S F 421 421 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs368617829 19q13.2 19 41718172 T null R C 428 428 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs112998286 19q13.2 19 41718242 A null I N 451 451 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 dbSNP,dbSNP,gnomAD rs1555815422 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41718244 A null D N 452 452 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs140159293 19q13.2 19 41718287 G null N S 466 466 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs376701458 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41718307 A null G R 473 473 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782176320 19q13.2 19 41718316 C null T P 476 476 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815456 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41718338 T null A V 483 483 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs782676085 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41719930 T null A V 498 498 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs2072591876 19q13.2 19 41719972 T null P L 512 512 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs138295038 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41719974 T null V L 513 513 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs138295038 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41719974 A null V M 513 513 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs2072592013 19q13.2 19 41719977 A null E K 514 514 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,dbSNP,dbSNP rs782578740 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41720010 T null P S 525 525 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,gnomAD rs550694828 19q13.2 19 41720038 A null W * 534 534 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782320520 19q13.2 19 41720049 A null G S 538 538 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs138799075 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41720133 A null A T 566 566 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815887 19q13.2 19 41720152 A null G E 572 572 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs146319665 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41720179 A null R H 581 581 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs61735249 19q13.2 19 41720199 A null D N 588 588 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1278360655 19q13.2 19 41720924 A null G R 592 592 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782226981 19q13.2 19 41720928 T null P L 593 593 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,dbSNP,dbSNP,gnomAD rs781903049 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41720958 T null S L 603 603 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555816110 19q13.2 19 41720966 A null L I 606 606 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782478629 19q13.2 19 41720970 T null S L 607 607 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs200399646 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41720976 T null A V 609 609 0.0002 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782326336 19q13.2 19 41720991 T null S F 614 614 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,gnomAD rs201761909 19q13.2 19 41720990 C null S P 614 614 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782401497 19q13.2 19 41721000 T null S L 617 617 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs2072613221 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41721038 G null N D 630 630 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782558080 19q13.2 19 41721048 T null P L 633 633 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782212015 19q13.2 19 41721077 A null A T 643 643 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs10423171 19q13.2 19 41721140 T null R C 664 664 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1427607489 19q13.2 19 41721160 C null K N 670 670 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782643301 19q13.2 19 41721174 T null S F 675 675 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs9621 19q13.2 19 41727239 A null G R 678 678 0.00843799 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,dbSNP,dbSNP,gnomAD rs781873106 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41727248 T null P S 681 681 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782497345 19q13.2 19 41727266 A null A T 687 687 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs368131026 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41727275 A null G S 690 690 0.0002 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782412306 19q13.2 19 41727287 A null G R 694 694 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1600480682 19q13.2 19 41727290 A null V M 695 695 missense 1 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs531145748 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37411372 T null R C 3 3 0.000196232 missense 0.8 possibly damaging 0.0 deleterious - low confidence 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs374991405 17q12 17 37411373 A null R H 3 3 missense 0.727 possibly damaging 0.07 tolerated - low confidence 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs374991405 17q12 17 37411373 T null R L 3 3 missense 0.185 benign 0.05 tolerated - low confidence 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs2051861236 17q12 17 37411378 C null G R 5 5 missense 0.021 benign 0.01 deleterious - low confidence 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs757277731 17q12 17 37411379 T null G V 5 5 missense 0.003 benign 0.13 tolerated - low confidence 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs2051861822 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37411382 T null S F 6 6 missense 0.378 benign 0.02 deleterious - low confidence 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs7211875 pubmed:14702039,pubmed:15489334,pubmed:8552087,UniProt:Ref.2 17q12 17 37411381 C null P S 6 6 0.145604 missense 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs7211875 17q12 17 37411381 A null S T 6 6 0.145604 missense 0.021 benign 0.05 tolerated - low confidence 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1426998075 17q12 17 37411386 G null F L 7 7 missense 0.036 benign 0.06 tolerated - low confidence 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1386674507 17q12 17 37411388 A null S N 8 8 missense 0.003 benign 0.31 tolerated - low confidence 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs777684288 17q12 17 37423510 A null N K 9 9 missense 0.03 benign 0.07 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1268855242 17q12 17 37423509 G null N S 9 9 missense 0.0 benign 0.63 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs1568137334 17q12 17 37423511 A null D N 10 10 missense 0.373 benign 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs746853187 17q12 17 37423515 G null P R 11 11 missense 0.862 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1340691801 17q12 17 37423518 T null S F 12 12 missense 0.003 benign 1.0 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs769361999 17q12 17 37423523 G null K E 14 14 missense 0.44 benign 0.1 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1165196770 17q12 17 37423524 C null K T 14 14 missense 0.571 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1450036651 17q12 17 37423527 T null P L 15 15 missense 0.073 benign 0.07 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs2052310063 17q12 17 37423526 T null P S 15 15 missense 0.183 benign 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs2052310367 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37423530 T null P L 16 16 missense 0.056 benign 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1391218354 17q12 17 37423529 T null P S 16 16 missense 0.056 benign 0.07 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs143836210 17q12 17 37423535 T null R * 18 18 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs143836210 17q12 17 37423535 G null R G 18 18 missense 0.015 benign 0.13 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,gnomAD rs200118946 17q12 17 37423536 A null R Q 18 18 0.000392465 missense 0.044 benign 0.25 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs2052310586 17q12 17 37423539 C null G A 19 19 missense 0.039 benign 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs767717382 17q12 17 37423545 G null S C 21 21 missense 0.884 possibly damaging 0.05 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1164751689 17q12 17 37423548 T null S F 22 22 missense 0.588 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1405764961 17q12 17 37423547 A null S T 22 22 missense 0.061 benign 0.16 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs760610332 17q12 17 37423551 G null Y C 23 23 missense 0.001 benign 0.08 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1356095701 17q12 17 37423557 A null M K 25 25 missense 0.0 benign 0.7 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs561407972 17q12 17 37423556 T null M L 25 25 0.000196232 missense 0.0 benign 0.2 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs561407972 17q12 17 37423556 G null M V 25 25 0.000196232 missense 0.0 benign 0.58 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1208495585 17q12 17 37423563 T null P L 27 27 missense 0.161 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1208495585 17q12 17 37423563 G null P R 27 27 missense 0.67 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1264808996 17q12 17 37423566 T null Y F 28 28 missense 0.061 benign 0.1 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1181906545 17q12 17 37423568 G null I V 29 29 missense 0.038 benign 0.39 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs2052312064 17q12 17 37423578 A null A D 32 32 missense 0.916 probably damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs751397194 17q12 17 37423587 A null G E 35 35 missense 0.034 benign 0.08 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs757122720 17q12 17 37423590 T null P L 36 36 missense 0.854 possibly damaging 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs980691501 17q12 17 37423602 G null F C 40 40 missense 0.084 benign 0.08 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs980691501 17q12 17 37423602 C null F S 40 40 missense 0.0 benign 0.16 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs777071633 17q12 17 37423613 T null Q * 44 44 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs777071633 17q12 17 37423613 A null Q K 44 44 missense 0.093 benign 0.06 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs909164484 17q12 17 37426954 G null F C 46 46 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs941854665 17q12 17 37426955 A null F L 46 46 missense 0.985 probably damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs759757775 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 17q12 17 37426959 T null R * 48 48 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs759757775 17q12 17 37426959 G null R G 48 48 missense 0.594 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs751557109 17q12 17 37426960 A null R Q 48 48 missense 0.056 benign 0.05 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1474977822 17q12 17 37426968 A null E K 51 51 missense 0.918 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1394834928 17q12 17 37426974 G null K E 53 53 missense 0.073 benign 0.26 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs2052429112 17q12 17 37426975 G null K R 53 53 missense 0.117 benign 0.18 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs755769498 17q12 17 37426987 A null S N 57 57 missense 0.034 benign 0.2 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs750222887 17q12 17 37426986 C null S R 57 57 missense 0.073 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1202611869 17q12 17 37426991 A null D E 58 58 missense 0.1 benign 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs748823884 17q12 17 37426989 A null D N 58 58 missense 0.012 benign 0.23 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs2052429633 17q12 17 37426990 T null D V 58 58 missense 0.343 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs748823884 17q12 17 37426989 T null D Y 58 58 missense 0.062 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs374099682 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37426993 G null H R 59 59 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs2052429826 17q12 17 37426992 T null H Y 59 59 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs748673452 17q12 17 37426995 G null T A 60 60 missense 0.0 benign 0.52 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1198672460 17q12 17 37427009 A null M I 64 64 missense 0.003 benign 0.5 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs2052430350 17q12 17 37427007 C null M L 64 64 missense 0.005 benign 0.12 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs1568152478 17q12 17 37437738 G null T A 65 65 missense 0.392 benign 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs755925823 17q12 17 37437742 T null S L 66 66 missense 0.183 benign 0.13 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1419671531 17q12 17 37437745 G null D G 67 67 missense 0.012 benign 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs141037954 17q12 17 37437744 C null D H 67 67 0.000196232 missense 0.039 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs141037954 17q12 17 37437744 A null D N 67 67 0.000196232 missense 0.007 benign 0.14 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs2147961227 17q12 17 37437760 G null D G 72 72 missense 0.009 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs147950347 17q12 17 37437763 T null P L 73 73 missense 0.044 benign 0.12 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs147950347 17q12 17 37437763 G null P R 73 73 missense 0.015 benign 0.07 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs753498929 17q12 17 37437765 C null S R 74 74 missense 0.017 benign 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1189869589 17q12 17 37437769 A null W * 75 75 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs754433137 17q12 17 37437768 C null W R 75 75 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1438098357 17q12 17 37437771 G null T A 76 76 missense 0.738 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs1568152576 17q12 17 37437772 T null T I 76 76 missense 0.811 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1438098357 17q12 17 37437771 C null T P 76 76 missense 0.854 possibly damaging 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs369092308 17q12 17 37437787 G null M R 81 81 missense 0.073 benign 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs929963414 17q12 17 37437786 G null M V 81 81 missense 0.034 benign 0.08 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs758897797 17q12 17 37437789 A null A T 82 82 missense 0.024 benign 0.16 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1466606998 17q12 17 37437798 A null E K 85 85 missense 0.757 possibly damaging 0.1 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs2052777542 17q12 17 37437808 C null M T 88 88 missense 0.009 benign 0.16 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,gnomAD rs545436243 17q12 17 37437811 G null D G 89 89 0.000196232 missense 0.594 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs771214399 17q12 17 37437813 C null C R 90 90 missense 0.513 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs2052777846 17q12 17 37437814 A null C Y 90 90 missense 0.014 benign 0.07 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs888361627 17q12 17 37437829 A null W * 95 95 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1376649458 17q12 17 37440513 C null V A 98 98 missense 0.928 probably damaging 0.05 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs770126092 17q12 17 37440512 C null V L 98 98 missense 0.895 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs780489911 17q12 17 37440516 G null A G 99 99 missense 0.789 possibly damaging 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs148703392 17q12 17 37440519 G null N S 100 100 0.000196232 missense 0.044 benign 0.22 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1464644057 17q12 17 37440522 G null Q R 101 101 missense 0.034 benign 0.14 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs773149366 17q12 17 37440526 T null M I 102 102 missense 0.014 benign 0.09 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs2147969503 17q12 17 37440525 G null M R 102 102 missense 0.883 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs760559082 17q12 17 37440530 G null T A 104 104 missense 0.145 benign 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs760559082 17q12 17 37440530 T null T S 104 104 missense 0.021 benign 0.12 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1279076701 17q12 17 37440539 G null K E 107 107 missense 0.449 possibly damaging 0.09 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs962355419 17q12 17 37440540 G null K R 107 107 missense 0.207 benign 0.05 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs147234139 17q12 17 37440543 T null E V 108 108 missense 0.44 benign 0.06 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs2052883569 17q12 17 37440546 T null E V 109 109 missense 0.979 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs2052883696 17q12 17 37440554 C null K Q 112 112 missense 0.007 benign 0.18 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,dbSNP rs1054865 pubmed:14702039 17q12 17 37440563 G null M V 115 115 missense 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1236030137 17q12 17 37440567 G null K R 116 116 missense 0.242 benign 0.15 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs17849432 17q12 17 37440569 T null H Y 117 117 missense 0.0 benign 1.0 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1194930466 17q12 17 37440578 G null N D 120 120 missense 0.006 benign 0.18 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1194930466 17q12 17 37440578 C null N H 120 120 missense 0.033 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs762476985 17q12 17 37440579 G null N S 120 120 missense 0.07 benign 0.07 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1194930466 17q12 17 37440578 T null N Y 120 120 missense 0.097 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs763545857 17q12 17 37440581 C null N H 121 121 missense 0.067 benign 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs757681201 17q12 17 37440584 G null P A 122 122 missense 0.895 possibly damaging 0.05 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,dbSNP,dbSNP,gnomAD rs757681201 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37440584 T null P S 122 122 missense 0.972 probably damaging 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs750812372 17q12 17 37440587 G null L V 123 123 missense 0.292 benign 0.09 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs2052885751 17q12 17 37440590 A null F I 124 124 missense 0.197 benign 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1298635693 17q12 17 37440599 G null T A 127 127 missense 0.049 benign 0.11 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs756551066 17q12 17 37440606 C null L P 129 129 missense 0.073 benign 0.21 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs756551066 17q12 17 37440606 A null L Q 129 129 missense 0.502 possibly damaging 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs2052886550 17q12 17 37440609 G null N S 130 130 missense 0.003 benign 0.74 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs749490492 17q12 17 37440614 C null K Q 132 132 missense 0.306 benign 0.12 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1263454482 17q12 17 37440615 G null K R 132 132 missense 0.031 benign 0.63 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs2147969903 17q12 17 37440621 G null A G 134 134 missense 0.164 benign 0.33 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs768738677 17q12 17 37440623 A null E K 135 135 missense 0.001 benign 0.19 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1218781306 17q12 17 37440626 A null E K 136 136 missense 0.108 benign 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs2147969947 17q12 17 37440636 A null T N 139 139 missense 0.0 benign 0.34 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs748319407 17q12 17 37440638 T null A S 140 140 missense 0.01 benign 0.47 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs748319407 17q12 17 37440638 A null A T 140 140 missense 0.01 benign 0.44 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs78395792 17q12 17 37440644 C null T P 142 142 missense 0.015 benign 0.17 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs776558332 17q12 17 37440647 A null A T 143 143 missense 0.158 benign 0.08 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs2052887987 17q12 17 37440654 T null P L 145 145 missense 0.242 benign 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs34408045 17q12 17 37440653 T null P S 145 145 0.00196232 missense 0.265 benign 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1478063083 17q12 17 37440660 G null H R 147 147 missense 0.0 benign 0.32 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs2052888086 17q12 17 37440659 T null H Y 147 147 missense 0.001 benign 0.07 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs779265621 17q12 17 37442566 G null T A 149 149 missense 0.0 benign 0.75 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs972398099 17q12 17 37442567 T null T I 149 149 missense 0.01 benign 0.06 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1403132471 17q12 17 37442570 T null D V 150 150 missense 0.027 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs2147975320 17q12 17 37442573 T null D V 151 151 missense 0.468 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs1568158593 17q12 17 37442576 G null P R 152 152 missense 0.158 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs781059297 17q12 17 37442581 T null R * 154 154 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs985453152 17q12 17 37442582 A null R Q 154 154 missense 0.117 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1388247289 17q12 17 37442585 G null P R 155 155 missense 0.073 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs567109642 17q12 17 37442595 G null D E 158 158 0.000196232 missense 0.117 benign 0.11 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs775126931 17q12 17 37442596 G null S A 159 159 missense 0.571 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs749164183 17q12 17 37442597 G null S C 159 159 missense 0.545 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1247415777 17q12 17 37442602 T null L F 161 161 missense 0.102 benign 0.07 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1247415777 17q12 17 37442602 G null L V 161 161 missense 0.044 benign 0.16 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs768187507 17q12 17 37442608 G null R G 163 163 missense 0.056 benign 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs774056248 17q12 17 37442609 A null R Q 163 163 missense 0.056 benign 0.29 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs768187507 17q12 17 37442608 T null R W 163 163 missense 0.939 probably damaging 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs767153736 17q12 17 37442612 C null D A 164 164 missense 0.117 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs767153736 17q12 17 37442612 G null D G 164 164 missense 0.617 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs761169873 17q12 17 37442611 T null D Y 164 164 missense 0.329 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1458705782 17q12 17 37442614 C null M L 165 165 missense 0.014 benign 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1458705782 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37442614 G null M V 165 165 missense 0.023 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs767039292 17q12 17 37442620 A null G R 167 167 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs1283050287 17q12 17 37442628 T null M I 169 169 missense 0.811 possibly damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs754152102 17q12 17 37442626 T null M L 169 169 missense 0.503 possibly damaging 0.15 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs754152102 17q12 17 37442626 G null M V 169 169 missense 0.908 possibly damaging 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs2052956462 17q12 17 37442632 A null A T 171 171 missense 0.917 probably damaging 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1040429867 17q12 17 37442635 T null R * 172 172 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs374860776 17q12 17 37442636 A null R Q 172 172 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs765322399 17q12 17 37442648 C null I T 176 176 missense 0.0 benign 0.95 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,gnomAD rs377490313 17q12 17 37442652 C null E D 177 177 missense 0.039 benign 0.22 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs760331528 17q12 17 37444696 A null E K 178 178 missense 0.95 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs1038300227 17q12 17 37444703 G null D G 180 180 missense 0.959 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs2053023938 17q12 17 37444705 G null N D 181 181 missense 0.834 possibly damaging 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs771278100 17q12 17 37444706 G null N S 181 181 missense 0.928 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs375889975 17q12 17 37444708 C null Y H 182 182 missense 0.073 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1413288465 17q12 17 37444711 A null A T 183 183 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs367698801 17q12 17 37444712 T null A V 183 183 missense 0.999 probably damaging 0.07 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs1003559391 17q12 17 37444716 C null E D 184 184 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs2053024994 17q12 17 37444719 A null W * 185 185 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1458840100 17q12 17 37444717 C null W R 185 185 missense 0.009 benign 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs753043534 17q12 17 37444722 G null D E 186 186 missense 0.302 benign 0.15 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1423139282 17q12 17 37444721 T null D V 186 186 missense 0.056 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter dbSNP,dbSNP,gnomAD rs1200288414 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37444720 T null D Y 186 186 missense 0.883 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1477000755 17q12 17 37444725 T null L F 187 187 missense 0.963 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs2038052036 17q12 17 37444733 C null I T 190 190 missense 0.555 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs1597899114 17q12 17 37444742 C null V A 193 193 missense 0.073 benign 0.39 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs2053025603 17q12 17 37444741 A null V I 193 193 missense 0.117 benign 0.23 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs764359936 17q12 17 37444749 G null D E 195 195 missense 0.034 benign 0.28 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs529523943 17q12 17 37444754 T null S L 197 197 missense 0.573 possibly damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs753835969 17q12 17 37444757 G null D G 198 198 missense 0.571 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs779797259 17q12 17 37444756 T null D Y 198 198 missense 0.974 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs142136696 17q12 17 37444766 T null H L 201 201 missense 0.0 benign 0.07 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs142136696 17q12 17 37444766 G null H R 201 201 missense 0.0 benign 0.43 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs2053026656 17q12 17 37444765 T null H Y 201 201 missense 0.003 benign 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs745430985 17q12 17 37458524 T null A V 202 202 missense 0.468 possibly damaging 0.06 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs2053457505 17q12 17 37458526 G null L V 203 203 missense 0.895 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs2053457692 17q12 17 37458534 A null M I 205 205 missense 0.0 benign 1.0 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1253060759 17q12 17 37458533 C null M T 205 205 missense 0.0 benign 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs770332199 17q12 17 37458535 A null A T 206 206 missense 0.038 benign 0.08 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs2053457859 17q12 17 37458538 C null V L 207 207 missense 0.161 benign 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs775978650 17q12 17 37458541 A null V I 208 208 missense 0.226 benign 0.13 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1377608754 17q12 17 37458545 G null D G 209 209 missense 0.9 possibly damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs749593690 17q12 17 37458548 A null I N 210 210 missense 0.95 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs749593690 17q12 17 37458548 G null I S 210 210 missense 0.738 possibly damaging 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs749593690 17q12 17 37458548 C null I T 210 210 missense 0.811 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs2053458273 17q12 17 37458551 G null Y C 211 211 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1262636076 17q12 17 37458563 C null L S 215 215 missense 0.988 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1487397604 17q12 17 37458570 C null E D 217 217 missense 0.62 possibly damaging 0.05 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs960786246 17q12 17 37458574 G null Q E 219 219 missense 0.007 benign 0.08 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs769028253 17q12 17 37458576 C null Q H 219 219 missense 0.04 benign 0.22 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs960786246 17q12 17 37458574 A null Q K 219 219 missense 0.0 benign 0.16 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,TOPMed,dbSNP,dbSNP,gnomAD rs367602386 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37458581 A null R Q 221 221 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs755590586 17q12 17 37462081 G null I M 224 224 missense 0.677 possibly damaging 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150744923 17q12 17 37462082 T null I L 225 225 0.000981162 missense 0.226 benign 0.1 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs948827615 17q12 17 37462083 C null I T 225 225 missense 0.814 possibly damaging 0.06 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150744923 17q12 17 37462082 G null I V 225 225 0.000981162 missense 0.115 benign 0.31 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1333012318 17q12 17 37462090 A null D E 227 227 missense 0.005 benign 0.11 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs928700220 17q12 17 37462088 A null D N 227 227 missense 0.062 benign 0.11 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs928700220 17q12 17 37462088 T null D Y 227 227 missense 0.84 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1045907641 17q12 17 37462092 T null H L 228 228 missense 0.299 benign 0.1 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs749821727 17q12 17 37462091 T null H Y 228 228 missense 0.245 benign 0.68 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs907253924 17q12 17 37462106 A null L I 233 233 missense 0.117 benign 0.35 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs774675965 17q12 17 37462109 T null R * 234 234 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs573981711 17q12 17 37462110 A null R K 234 234 0.000196232 missense 0.125 benign 0.12 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs573981711 17q12 17 37462110 C null R T 234 234 0.000196232 missense 0.869 possibly damaging 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1163650883 17q12 17 37462114 C null K N 235 235 missense 0.44 benign 0.09 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs2053559698 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37462117 G null F L 236 236 missense 0.001 benign 0.3 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed rs371661972 17q12 17 37462121 A null L I 238 238 missense 0.0 benign 1.0 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs184173195 17q12 17 37465434 C null M T 239 239 0.000196232 missense 0.0 benign 0.08 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs778017944 17q12 17 37465440 A null R Q 241 241 missense 0.117 benign 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs972824162 17q12 17 37465439 T null R W 241 241 missense 0.971 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs376421675 17q12 17 37465443 A null R Q 242 242 0 missense 0.216 benign 0.06 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs747169374 17q12 17 37465442 T null R W 242 242 missense 0.952 probably damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1208030542 17q12 17 37465448 T null P S 244 244 missense 0.021 benign 0.15 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1361482732 17q12 17 37465452 G null K R 245 245 missense 0.19 benign 0.1 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs201607716 17q12 17 37465461 T null Q L 248 248 0.000196232 missense 0.117 benign 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs201607716 17q12 17 37465461 G null Q R 248 248 0.000196232 missense 0.001 benign 0.58 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs768651633 17q12 17 37465469 C null Y H 251 251 missense 0.117 benign 0.13 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs774171350 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37465478 G null M V 254 254 missense 0.183 benign 0.06 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs761618764 17q12 17 37465484 T null R * 256 256 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs2053644618 17q12 17 37465485 A null R Q 256 256 missense 0.321 benign 0.24 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs985432564 17q12 17 37465489 A null F L 257 257 missense 0.476 possibly damaging 0.08 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs2053644795 17q12 17 37465496 C null I L 260 260 missense 0.003 benign 1.0 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs750269130 17q12 17 37465503 A null G E 262 262 missense 0.073 benign 0.09 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs911129443 17q12 17 37465515 T null H L 266 266 missense 0.353 benign 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs911129443 17q12 17 37465515 G null H R 266 266 missense 0.95 probably damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs965304287 17q12 17 37465519 A null D E 267 267 missense 0.079 benign 0.16 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs753341302 17q12 17 37465517 A null D N 267 267 missense 0.571 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs754488351 17q12 17 37465520 C null K Q 268 268 missense 0.117 benign 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs143994775 17q12 17 37465521 G null K R 268 268 missense 0.117 benign 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1307892133 17q12 17 37465528 G null I M 270 270 missense 0.265 benign 0.1 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs753176409 17q12 17 37465527 C null I T 270 270 missense 0.113 benign 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs188630265 17q12 17 37465538 A null A T 274 274 0.000196232 missense 0.005 benign 0.25 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs773206191 17q12 17 37467468 T null R * 280 280 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,dbSNP,dbSNP,gnomAD rs746746027 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37467469 A null R Q 280 280 missense 0.738 possibly damaging 0.09 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs2053689704 17q12 17 37467475 C null E A 282 282 missense 0.056 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1300801420 17q12 17 37467481 G null K R 284 284 missense 0.005 benign 0.53 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1300801420 17q12 17 37467481 C null K T 284 284 missense 0.027 benign 0.1 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs576475151 17q12 17 37467484 A null R K 285 285 0.000196232 missense 0.034 benign 0.3 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs776452779 17q12 17 37467485 T null R S 285 285 missense 0.183 benign 0.07 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs2053690185 17q12 17 37467486 T null L F 286 286 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs759167526 17q12 17 37467489 T null Q * 287 287 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs2053690352 17q12 17 37467492 T null E * 288 288 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1162578231 17q12 17 37467495 G null Y D 289 289 missense 0.925 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs2148037512 17q12 17 37467499 A null R K 290 290 missense 0.952 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,dbSNP,dbSNP,gnomAD rs541695385 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37467501 G null T A 291 291 0.000196232 missense 0.0 benign 1.0 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1227603812 17q12 17 37467502 T null T I 291 291 missense 0.01 benign 0.14 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs774862825 17q12 17 37467505 T null A V 292 292 missense 0.044 benign 0.13 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs754005263 17q12 17 37467518 G null N K 296 296 missense 0.012 benign 0.37 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1326466468 17q12 17 37470400 A null S N 299 299 missense 0.25 benign 0.13 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs761105676 17q12 17 37470402 A null A T 300 300 missense 0.756 possibly damaging 0.09 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs2053760416 17q12 17 37470403 T null A V 300 300 missense 0.226 benign 0.05 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs377297752 17q12 17 37470406 A null R K 301 301 missense 0.0 benign 0.88 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs377297752 17q12 17 37470406 C null R T 301 301 missense 0.003 benign 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs2053760750 17q12 17 37470411 A null Y N 303 303 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs528499631 17q12 17 37470414 A null D N 304 304 0.000196232 missense 0.023 benign 0.12 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs778943011 17q12 17 37470417 T null H Y 305 305 missense 0.067 benign 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs1568184956 17q12 17 37470420 G null L V 306 306 missense 0.048 benign 0.18 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1214439404 17q12 17 37470425 C null K N 307 307 missense 0.857 possibly damaging 0.06 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1252892619 17q12 17 37470430 T null T I 309 309 missense 0.006 benign 0.14 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs200169209 17q12 17 37470433 A null R Q 310 310 0.000196232 missense 0.889 possibly damaging 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs752832027 17q12 17 37470432 T null R W 310 310 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs781116439 17q12 17 37470439 G null E G 312 312 missense 0.065 benign 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs565416493 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37470444 T null R C 314 314 0.000196232 missense 0.939 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs146413054 17q12 17 37470445 A null R H 314 314 missense 0.117 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs2053762135 17q12 17 37470452 C null K N 316 316 missense 0.25 benign 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142392695 17q12 17 37470450 C null K Q 316 316 0.00313972 missense 0.25 benign 0.25 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,dbSNP,dbSNP,gnomAD rs1022179164 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37470453 T null R C 317 317 missense 0.133 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,dbSNP,dbSNP,gnomAD rs1036733761 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37470454 A null R H 317 317 missense 0.165 benign 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1036733761 17q12 17 37470454 T null R L 317 317 missense 0.034 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs2148044227 17q12 17 37470461 A null M I 319 319 missense 0.006 benign 0.05 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs768470304 17q12 17 37470460 C null M T 319 319 missense 0.003 benign 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,dbSNP,dbSNP,gnomAD rs766832434 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37470459 G null M V 319 319 missense 0.021 benign 0.06 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,dbSNP,dbSNP,gnomAD rs773980698 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37470462 T null L F 320 320 missense 0.244 benign 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs761471503 17q12 17 37470463 C null L P 320 320 missense 0.091 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1305091524 17q12 17 37470466 T null S L 321 321 missense 0.007 benign 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1337284206 17q12 17 37470474 A null L I 324 324 missense 0.183 benign 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs2148044258 17q12 17 37470475 C null L P 324 324 missense 0.041 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs773868308 17q12 17 37470492 T null S C 330 330 missense 0.761 possibly damaging 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs773868308 17q12 17 37470492 G null S G 330 330 missense 0.005 benign 0.47 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs1360759028 17q12 17 37470495 G null S G 331 331 missense 0.007 benign 0.15 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs760897387 17q12 17 37470496 A null S N 331 331 missense 0.005 benign 0.25 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs760897387 17q12 17 37470496 C null S T 331 331 missense 0.015 benign 0.26 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1480507342 17q12 17 37470502 T null C F 333 333 missense 0.006 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1175900996 17q12 17 37470505 T null Q L 334 334 missense 0.007 benign 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs765510378 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37470516 T null R C 338 338 missense 0.085 benign 0.08 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs752708938 17q12 17 37470517 A null R H 338 338 missense 0.0 benign 0.58 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs765510378 17q12 17 37470516 A null R S 338 338 missense 0.0 benign 1.0 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149845906 17q12 17 37470520 A null R Q 339 339 0.000588697 missense 0.027 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs750408176 17q12 17 37470519 T null R W 339 339 missense 0.875 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1461272546 17q12 17 37470526 T null A V 341 341 missense 0.265 benign 0.07 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1459775149 17q12 17 37470531 C null I L 343 343 missense 0.0 benign 0.27 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs2053764520 17q12 17 37470532 G null I S 343 343 missense 0.003 benign 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1459775149 17q12 17 37470531 G null I V 343 343 missense 0.003 benign 0.15 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1312493627 17q12 17 37471095 A null D N 344 344 missense 0.034 benign 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs777051321 17q12 17 37471101 A null G S 346 346 missense 0.177 benign 0.12 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1173344516 17q12 17 37471108 A null S N 348 348 missense 0.003 benign 0.33 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs2148045764 17q12 17 37471107 C null S R 348 348 missense 0.006 benign 0.11 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1361791575 17q12 17 37471110 T null P S 349 349 missense 0.003 benign 0.27 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs755385269 17q12 17 37471113 A null S T 350 350 missense 0.003 benign 0.76 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs765389140 17q12 17 37471116 T null I F 351 351 missense 0.0 benign 0.11 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2522969 17q12 17 37471118 G null I M 351 351 0.00490581 missense 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs765389140 17q12 17 37471116 G null I V 351 351 missense 0.0 benign 0.86 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs762982052 17q12 17 37471122 G null M V 353 353 missense 0.0 benign 1.0 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs117373044 17q12 17 37471129 T null S L 355 355 0.000196232 missense 0.073 benign 0.29 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1193641091 17q12 17 37471131 T null N Y 356 356 missense 0.003 benign 0.28 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs375609348 17q12 17 37471135 G null S * 357 357 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs2053854488 17q12 17 37474558 G null R G 359 359 missense 0.244 benign 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,TOPMed,gnomAD rs369901141 17q12 17 37474562 T null R L 360 360 missense 0.165 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,TOPMed,dbSNP,dbSNP,gnomAD rs369901141 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37474562 A null R Q 360 360 missense 0.353 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs563439261 17q12 17 37474561 T null R W 360 360 0.000196232 missense 0.939 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs766279125 17q12 17 37474568 T null A V 362 362 missense 0.571 possibly damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs766089640 17q12 17 37474570 G null P A 363 363 missense 0.056 benign 0.09 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,gnomAD rs573640576 17q12 17 37474574 A null P H 364 364 0.000196232 missense 0.64 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,gnomAD rs573640576 17q12 17 37474574 T null P L 364 364 0.000196232 missense 0.539 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,gnomAD rs573640576 17q12 17 37474574 G null P R 364 364 0.000196232 missense 0.539 possibly damaging 0.15 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1722272437 17q12 17 37474586 G null T S 368 368 missense 0.056 benign 0.11 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1167215604 17q12 17 37474591 T null L F 370 370 missense 0.394 benign 0.15 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs2053855524 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37474598 A null G D 372 372 missense 0.561 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1663776169 17q12 17 37474610 C null L P 376 376 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs746471520 17q12 17 37474613 G null N S 377 377 missense 0.005 benign 0.29 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1337888572 17q12 17 37474616 T null E V 378 378 missense 0.062 benign 0.07 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs2053855956 17q12 17 37474619 G null K R 379 379 missense 0.001 benign 0.42 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs1597953331 17q12 17 37474628 G null E G 382 382 missense 0.081 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1184472657 17q12 17 37474627 A null E K 382 382 missense 0.062 benign 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs2053900936 17q12 17 37476798 G null L R 383 383 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1272025990 17q12 17 37476806 T null M L 386 386 missense 0.0 benign 0.34 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs2053901363 17q12 17 37476818 C null V L 390 390 missense 0.034 benign 0.15 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1185571871 17q12 17 37476827 C null A P 393 393 missense 0.034 benign 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs780549502 17q12 17 37476843 G null K R 398 398 missense 0.993 probably damaging 0.16 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs780549502 17q12 17 37476843 C null K T 398 398 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1319632429 17q12 17 37476857 C null N H 403 403 missense 0.005 benign 0.08 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1036614439 17q12 17 37476860 T null E * 404 404 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1036614439 17q12 17 37476860 C null E Q 404 404 missense 0.978 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs749593818 17q12 17 37476865 G null C W 405 405 missense 0.939 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs2053902116 17q12 17 37476866 T null N Y 406 406 missense 0.0 benign 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs373768236 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37476876 A null G E 409 409 missense 0.928 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs186687337 17q12 17 37476885 A null R K 412 412 0.000588697 missense 0.053 benign 0.41 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs748285471 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37476891 T null A V 414 414 missense 0.573 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1296855173 17q12 17 37476893 T null Q * 415 415 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1236270887 17q12 17 37476902 C null A P 418 418 missense 0.027 benign 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1236270887 17q12 17 37476902 A null A T 418 418 missense 0.044 benign 0.78 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs2053903018 17q12 17 37476903 T null A V 418 418 missense 0.027 benign 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1346716855 17q12 17 37476908 C null I L 420 420 missense 0.079 benign 0.06 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs760842735 17q12 17 37476914 T null I L 422 422 missense 0.431 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs769797807 17q12 17 37476915 C null I T 422 422 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs1473275859 17q12 17 37476917 C null D H 423 423 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs775593551 17q12 17 37476925 G null N K 425 425 missense 0.717 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1346370052 17q12 17 37476929 G null T A 427 427 missense 0.325 benign 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs774041584 17q12 17 37476933 A null R Q 428 428 missense 0.35 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1263964153 17q12 17 37476932 T null R W 428 428 missense 0.982 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1434763804 17q12 17 37476938 G null I V 430 430 missense 0.674 possibly damaging 0.05 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1447715107 17q12 17 37476953 G null I V 435 435 missense 0.014 benign 0.48 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs2053904386 17q12 17 37476957 A null R K 436 436 missense 0.001 benign 0.72 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs376913298 17q12 17 37476968 G null I V 440 440 missense 0.431 benign 0.11 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs767220490 17q12 17 37476977 C null G R 443 443 missense 0.114 benign 0.0 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1264375388 9q31.3 9 111631412 A null G E 2 2 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs1830271242 9q31.3 9 111631411 T null G W 2 2 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs999791922 9q31.3 9 111631414 C null A P 3 3 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs999791922 9q31.3 9 111631414 T null A S 3 3 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs999791922 9q31.3 9 111631414 A null A T 3 3 missense 0.0 unknown 0.23 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes,TOPMed,gnomAD rs530603296 9q31.3 9 111631415 T null A V 3 3 missense 0.0 unknown 0.58 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes,TOPMed,gnomAD rs544358015 9q31.3 9 111631418 T null P L 4 4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes,TOPMed,gnomAD rs544358015 9q31.3 9 111631418 A null P Q 4 4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1275801541 9q31.3 9 111631417 T null P S 4 4 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs886470284 9q31.3 9 111631421 C null L P 5 5 missense 0.0 unknown 0.08 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1284295122 9q31.3 9 111631423 T null L F 6 6 missense 0.0 unknown 0.31 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1830271946 9q31.3 9 111631424 C null L P 6 6 missense 0.0 unknown 0.08 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1284295122 9q31.3 9 111631423 G null L V 6 6 missense 0.0 unknown 0.25 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs774301664 9q31.3 9 111631427 T null S F 7 7 missense 0.0 unknown 0.04 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs960701170 9q31.3 9 111631430 G null P R 8 8 missense 0.0 unknown 0.32 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1830272307 9q31.3 9 111631432 A null G S 9 9 missense 0.0 unknown 0.7 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs2131251885 9q31.3 9 111631435 C null W R 10 10 missense 0.0 unknown 0.85 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1830272349 9q31.3 9 111631439 A null G E 11 11 missense 0.0 unknown 0.13 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs906125776 9q31.3 9 111631442 G null A G 12 12 missense 0.0 unknown 0.28 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes,ExAC,gnomAD rs561187112 9q31.3 9 111631441 A null A T 12 12 0.000196232 missense 0.0 unknown 0.2 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs906125776 9q31.3 9 111631442 T null A V 12 12 missense 0.0 unknown 0.18 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1429786258 9q31.3 9 111631445 A null G E 13 13 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs1830272657 9q31.3 9 111631444 A null G R 13 13 missense 0.0 unknown 0.06 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1023718695 9q31.3 9 111631448 T null A V 14 14 missense 0.0 unknown 0.25 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs1830272881 9q31.3 9 111631454 A null G D 16 16 missense 0.0 unknown 0.09 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1035861157 9q31.3 9 111631453 A null G S 16 16 missense 0.0 unknown 0.19 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes rs1830272991 9q31.3 9 111631459 T null R C 18 18 missense 0.0 unknown 0.07 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs959766272 9q31.3 9 111631465 C null W R 20 20 missense 0.0 unknown 0.09 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1481364068 9q31.3 9 111631468 G null M V 21 21 missense 0.0 unknown 0.9 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs952193701 9q31.3 9 111631472 G null L R 22 22 missense 0.0 unknown 0.06 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1197351031 9q31.3 9 111631477 C null A P 24 24 missense 0.0 unknown 0.39 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1197351031 9q31.3 9 111631477 A null A T 24 24 missense 0.0 unknown 0.36 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC rs748650710 9q31.3 9 111631478 T null A V 24 24 missense 0.0 unknown 0.6 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC rs770270619 9q31.3 9 111631480 A null P T 25 25 missense 0.0 unknown 0.4 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1186834756 9q31.3 9 111631484 C null L P 26 26 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1225667347 9q31.3 9 111631490 T null P L 28 28 missense 0.0 unknown 1.0 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1225667347 9q31.3 9 111631490 G null P R 28 28 missense 0.0 unknown 0.32 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1264165933 9q31.3 9 111631489 T null P S 28 28 missense 0.0 unknown 0.48 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs907721802 9q31.3 9 111631493 A null A E 29 29 missense 0.0 unknown 0.12 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs907721802 9q31.3 9 111631493 T null A V 29 29 missense 0.0 unknown 0.66 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1440643819 9q31.3 9 111631498 G null L V 31 31 missense 0.0 unknown 0.28 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1182838704 9q31.3 9 111631501 G null L V 32 32 missense 0.0 unknown 0.13 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs1830274392 9q31.3 9 111631505 C null V A 33 33 missense 0.0 unknown 0.99 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs10980984 9q31.3 9 111631504 C null V L 33 33 missense 0.0 unknown 0.89 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs10980984 9q31.3 9 111631504 A null V M 33 33 missense 0.0 unknown 0.21 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1332821008 9q31.3 9 111631508 T null R L 34 34 missense 0.0 unknown 0.22 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1395947701 9q31.3 9 111631507 T null R W 34 34 missense 0.0 unknown 0.03 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1448796758 9q31.3 9 111631510 G null P A 35 35 missense 0.0 unknown 0.3 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1287830551 9q31.3 9 111631511 A null P H 35 35 missense 0.0 unknown 0.01 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1448796758 9q31.3 9 111631510 T null P S 35 35 missense 0.0 unknown 0.41 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1327268193 9q31.3 9 111631513 T null A S 36 36 missense 0.0 unknown 0.16 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1830274835 9q31.3 9 111631514 T null A V 36 36 missense 0.0 unknown 0.28 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,gnomAD rs770523679 9q31.3 9 111631519 T null A S 38 38 missense 0.0 unknown 0.01 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1199775729 9q31.3 9 111631520 T null A V 38 38 missense 0.0 unknown 0.01 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1420475080 9q31.3 9 111631525 C null V L 40 40 missense 0.034 benign 0.43 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1420475080 9q31.3 9 111631525 A null V M 40 40 missense 0.502 possibly damaging 0.01 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1253949277 9q31.3 9 111631528 T null E * 41 41 stop gained 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1444088699 9q31.3 9 111631530 T null E D 41 41 missense 0.09 benign 0.1 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs2131252045 9q31.3 9 111631529 T null E V 41 41 missense 0.955 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs968390000 9q31.3 9 111631532 A null G E 42 42 missense 0.917 probably damaging 0.02 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs968390000 9q31.3 9 111631532 T null G V 42 42 missense 0.982 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1830275742 9q31.3 9 111631534 T null L F 43 43 missense 0.76 possibly damaging 0.01 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs1589338291 9q31.3 9 111631544 T null G V 46 46 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs766344689 9q31.3 9 111631547 A null T K 47 47 missense 0.014 benign 0.59 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs766344689 9q31.3 9 111631547 T null T M 47 47 missense 0.822 possibly damaging 0.02 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1413138772 9q31.3 9 111631550 T null R L 48 48 missense 0.525 possibly damaging 0.11 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1830276337 9q31.3 9 111631549 T null R W 48 48 missense 0.962 probably damaging 0.03 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1171218907 9q31.3 9 111631554 A null D E 49 49 missense 0.592 possibly damaging 0.1 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes rs566864923 9q31.3 9 111631553 T null D V 49 49 missense 0.041 benign 0.13 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1465886893 9q31.3 9 111631552 T null D Y 49 49 missense 0.919 probably damaging 0.04 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1307196837 9q31.3 9 111631560 G null Y * 51 51 stop gained 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1399357407 9q31.3 9 111631570 T null G C 55 55 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1399357407 9q31.3 9 111631570 A null G S 55 55 missense 0.989 probably damaging 0.01 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes,ExAC,TOPMed,gnomAD rs771691965 9q31.3 9 111631573 T null V L 56 56 missense 0.656 possibly damaging 0.03 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes,ExAC,TOPMed,gnomAD rs771691965 9q31.3 9 111631573 A null V M 56 56 missense 0.887 possibly damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1450333835 9q31.3 9 111631576 G null S G 57 57 missense 0.035 benign 0.08 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs775630762 9q31.3 9 111631579 T null R C 58 58 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1830277805 9q31.3 9 111631580 C null R P 58 58 missense 0.822 possibly damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes,TOPMed rs532686498 9q31.3 9 111631583 T null S L 59 59 0.000196232 missense 0.226 benign 0.01 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs2131252139 9q31.3 9 111631582 A null S T 59 59 missense 0.04 benign 0.2 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes,TOPMed rs532686498 9q31.3 9 111631583 G null S W 59 59 0.000196232 missense 0.948 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1232198508 9q31.3 9 111631588 T null G C 61 61 missense 0.777 possibly damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1343011881 9q31.3 9 111631592 C null K T 62 62 missense 0.548 possibly damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs2131252159 9q31.3 9 111631594 C null A P 63 63 missense 0.821 possibly damaging 0.02 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs1589338344 9q31.3 9 111631595 T null A V 63 63 missense 0.617 possibly damaging 0.05 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs1830278916 9q31.3 9 111631599 C null E D 64 64 missense 0.288 benign 0.17 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1254046094 9q31.3 9 111631600 G null I V 65 65 missense 0.56 possibly damaging 0.02 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs947174502 9q31.3 9 111631609 A null A T 68 68 missense 0.885 possibly damaging 0.01 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs2131252180 9q31.3 9 111631613 C null Y S 69 69 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1481817721 9q31.3 9 111631620 C null Q H 71 71 missense 0.944 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1157530057 9q31.3 9 111631619 T null Q L 71 71 missense 0.104 benign 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1157530057 9q31.3 9 111631619 C null Q P 71 71 missense 0.872 possibly damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1206811335 9q31.3 9 111631625 T null A V 73 73 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1444782234 9q31.3 9 111631628 A null R Q 74 74 missense 0.938 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1589338364 9q31.3 9 111631630 G null R G 75 75 missense 0.683 possibly damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1252034172 9q31.3 9 111631631 A null R H 75 75 missense 0.919 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1589338364 9q31.3 9 111631630 A null R S 75 75 missense 0.594 possibly damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1432254682 9q31.3 9 111631634 G null Y C 76 76 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1830280224 9q31.3 9 111631646 A null R H 80 80 missense 0.949 probably damaging 0.05 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs1830280288 9q31.3 9 111631649 C null Y S 81 81 missense 0.056 benign 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1830280516 9q31.3 9 111631652 A null R Q 82 82 missense 0.331 benign 0.04 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1830280443 9q31.3 9 111631651 T null R W 82 82 missense 0.98 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1168576360 9q31.3 9 111631655 T null P L 83 83 missense 0.073 benign 0.08 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1255938123 9q31.3 9 111631654 T null P S 83 83 missense 0.056 benign 0.21 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs760530524 9q31.3 9 111631659 T null Q H 84 84 missense 0.419 benign 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1431663363 9q31.3 9 111631657 A null Q K 84 84 missense 0.014 benign 0.04 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,gnomAD rs753597719 9q31.3 9 111631663 A null G R 86 86 missense 0.317 benign 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs1360322205 9q31.3 9 111631667 C null D A 87 87 missense 0.001 benign 0.22 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs2131252272 9q31.3 9 111631670 G null E G 88 88 missense 0.0 benign 0.1 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1298920536 9q31.3 9 111631669 C null E Q 88 88 missense 0.199 benign 0.14 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs1317216843 9q31.3 9 111631672 A null G S 89 89 missense 0.049 benign 0.06 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes,TOPMed,gnomAD rs552369308 9q31.3 9 111631676 T null P L 90 90 0.000981162 missense 0.119 benign 0.2 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1340006056 9q31.3 9 111631678 T null G W 91 91 missense 0.984 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1830281645 9q31.3 9 111631685 T null T M 93 93 missense 0.725 possibly damaging 0.02 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,gnomAD rs761627108 9q31.3 9 111631687 T null P S 94 94 missense 0.023 benign 0.14 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs112180032 9q31.3 9 111631690 G null Q E 95 95 missense 0.003 benign 1.0 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1830281836 9q31.3 9 111631691 C null Q P 95 95 missense 0.003 benign 0.23 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1830281913 9q31.3 9 111631694 T null S I 96 96 missense 0.066 benign 0.03 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1047778084 9q31.3 9 111631696 C null A P 97 97 missense 0.996 probably damaging 0.02 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1251392357 9q31.3 9 111631697 T null A V 97 97 missense 0.992 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1296047351 9q31.3 9 111631706 G null A G 100 100 missense 0.472 possibly damaging 0.04 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1207770092 9q31.3 9 111631715 A null L Q 103 103 missense 0.177 benign 0.06 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs867314244 9q31.3 9 111631720 A null A T 105 105 missense 0.998 probably damaging 0.03 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1269899110 9q31.3 9 111631721 T null A V 105 105 missense 0.998 probably damaging 0.05 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs766627561 9q31.3 9 111631723 G null T A 106 106 missense 0.161 benign 0.16 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1388804754 9q31.3 9 111631732 A null E K 109 109 missense 0.998 probably damaging 0.01 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1388804754 9q31.3 9 111631732 C null E Q 109 109 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1451892812 9q31.3 9 111631738 T null L F 111 111 missense 0.999 probably damaging 0.02 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1451892812 9q31.3 9 111631738 G null L V 111 111 missense 0.984 probably damaging 0.01 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs2131282001 9q31.3 9 111666815 A null V I 113 113 missense 0.037 benign 0.57 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1830907470 9q31.3 9 111666819 G null S C 114 114 missense 0.848 possibly damaging 0.01 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1212247774 9q31.3 9 111666818 C null S P 114 114 missense 0.513 possibly damaging 0.07 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ESP,ExAC,TOPMed,gnomAD rs372546622 9q31.3 9 111666821 T null Q * 115 115 stop gained 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1489102839 9q31.3 9 111666830 T null A S 118 118 missense 0.095 benign 0.17 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1489102839 9q31.3 9 111666830 A null A T 118 118 missense 0.095 benign 0.08 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1204565767 9q31.3 9 111666831 T null A V 118 118 missense 0.637 possibly damaging 0.02 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,gnomAD rs778762707 9q31.3 9 111666839 T null Q * 121 121 stop gained 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,dbSNP,dbSNP,gnomAD rs1474729722 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 9q31.3 9 111666847 G null Y * 123 123 stop gained 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,dbSNP,dbSNP rs779628567 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 111666848 A null C S 124 124 missense 0.112 benign 0.07 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs746454143 9q31.3 9 111666852 A null M K 125 125 missense 0.003 benign 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs746454143 9q31.3 9 111666852 G null M R 125 125 missense 0.041 benign 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs1830908714 9q31.3 9 111666854 T null Q * 126 126 stop gained 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,gnomAD rs768611495 9q31.3 9 111666864 T null C F 129 129 missense 0.174 benign 0.0 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1830908862 9q31.3 9 111666866 G null K E 130 130 missense 0.007 benign 0.02 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes,ExAC,gnomAD rs528697467 9q31.3 9 111666871 G null D E 131 131 0.000196232 missense 0.489 possibly damaging 0.03 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs747996557 9q31.3 9 111666873 G null A G 132 132 missense 0.003 benign 0.04 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs747996557 9q31.3 9 111666873 T null A V 132 132 missense 0.195 benign 0.02 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1354456540 9q31.3 9 111666881 T null V L 135 135 missense 0.0 benign 0.08 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1354456540 9q31.3 9 111666881 A null V M 135 135 missense 0.059 benign 0.01 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs1830909519 9q31.3 9 111666885 A null G D 136 136 missense 0.038 benign 0.01 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs920207865 9q31.3 9 111666887 A null V I 137 137 missense 0.871 possibly damaging 0.09 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs969884301 9q31.3 9 111666891 G null P R 138 138 missense 0.44 benign 0.0 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,gnomAD rs759820293 9q31.3 9 111666890 T null P S 138 138 missense 0.2 benign 0.0 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs113951364 9q31.3 9 111666893 C null A P 139 139 missense 0.521 possibly damaging 0.03 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs538617954 9q31.3 9 111666894 T null A V 139 139 missense 0.338 benign 0.02 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1239015418 9q31.3 9 111666900 T null S I 141 141 missense 0.007 benign 0.0 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs760644969 9q31.3 9 111666904 A null N K 142 142 missense 0.935 probably damaging 0.01 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs775674485 9q31.3 9 111666903 G null N S 142 142 missense 0.871 possibly damaging 0.03 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma dbSNP,dbSNP,gnomAD rs1217466195 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 111666906 T null P L 143 143 missense 0.34 benign 0.08 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,gnomAD rs754379804 9q31.3 9 111666912 A null R Q 145 145 missense 0.899 possibly damaging 0.08 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs776244288 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 111666911 T null R W 145 145 missense 0.967 probably damaging 0.03 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs939964706 9q31.3 9 111666916 T null E D 146 146 missense 0.347 benign 0.05 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ESP,ExAC,TOPMed,gnomAD rs377200861 9q31.3 9 111666930 G null A G 151 151 missense 0.338 benign 0.01 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1180185756 9q31.3 9 111666929 A null A T 151 151 missense 0.257 benign 0.25 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1830911028 9q31.3 9 111666935 T null L F 153 153 missense 0.97 probably damaging 0.14 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,gnomAD rs758092675 9q31.3 9 111666938 C null * R 154 154 stop lost 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B Ensembl rs1601741282 22q13.1 22 39964378 C null S P 2 2 missense 0.0 unknown 0.02 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B Ensembl rs2145674115 22q13.1 22 39964381 G null S G 3 3 missense 0.0 unknown 1.0 tolerated 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed rs910273782 22q13.1 22 39964383 G null S R 3 3 missense 0.0 unknown 0.01 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed,gnomAD rs1317667301 22q13.1 22 39964385 G null H R 4 4 missense 0.0 unknown 1.0 tolerated 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed,gnomAD rs1365194164 22q13.1 22 39964387 A null E K 5 5 missense 0.0 unknown 0.22 tolerated 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed,gnomAD rs772945574 22q13.1 22 39964391 T null G V 6 6 missense 0.0 unknown 0.0 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed,gnomAD rs2067150237 22q13.1 22 39964394 A null G D 7 7 missense 0.0 unknown 0.02 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed rs1401884210 22q13.1 22 39964397 G null K R 8 8 missense 0.0 unknown 0.02 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B 1000Genomes,TOPMed,gnomAD rs530685978 22q13.1 22 39964399 G null K E 9 9 missense 0.0 unknown 0.07 tolerated 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B 1000Genomes,TOPMed,gnomAD rs530685978 22q13.1 22 39964399 C null K Q 9 9 missense 0.0 unknown 0.03 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed,gnomAD rs2067150382 22q13.1 22 39964400 G null K R 9 9 missense 0.0 unknown 0.07 tolerated 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B Ensembl rs1042858189 22q13.1 22 39964402 G null K E 10 10 missense 0.0 unknown 0.04 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed,gnomAD rs749102745 22q13.1 22 39964403 G null K R 10 10 missense 0.0 unknown 0.0 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed,gnomAD rs749102745 22q13.1 22 39964403 C null K T 10 10 missense 0.0 unknown 0.0 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed,gnomAD rs1420781707 22q13.1 22 39964405 A null A T 11 11 missense 0.0 unknown 0.03 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B Ensembl rs2067150544 22q13.1 22 39964411 G null K E 13 13 missense 0.0 unknown 0.01 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed,gnomAD rs889494933 22q13.1 22 39964415 G null Q R 14 14 missense 0.0 unknown 0.04 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B Ensembl rs1297948549 22q13.1 22 39964417 T null P S 15 15 missense 0.0 unknown 0.04 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed rs2067150692 22q13.1 22 39964421 C null K T 16 16 missense 0.0 unknown 0.01 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B Ensembl rs1184043693 22q13.1 22 39964423 G null K E 17 17 missense 0.0 unknown 0.02 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed rs1008307302 22q13.1 22 39964426 T null Q * 18 18 stop gained 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed rs1195265494 22q13.1 22 39964430 T null A V 19 19 missense 0.0 unknown 0.06 tolerated 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed rs772865677 22q13.1 22 39964434 C null K N 20 20 missense 0.0 unknown 0.01 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B Ensembl rs2145674267 22q13.1 22 39964440 A null M I 22 22 missense 0.0 unknown 0.05 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B Ensembl rs934530393 22q13.1 22 39964438 G null M V 22 22 missense 0.0 unknown 0.06 tolerated 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B 1000Genomes,TOPMed rs548731683 22q13.1 22 39964444 A null E K 24 24 missense 0.0 unknown 0.16 tolerated 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed rs1285090426 22q13.1 22 39964449 T null E D 25 25 missense 0.0 unknown 0.48 tolerated 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B Ensembl rs112093393 22q13.1 22 39964448 G null E G 25 25 missense 0.0 unknown 0.03 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B Ensembl rs112093393 22q13.1 22 39964448 T null E V 25 25 missense 0.0 unknown 0.03 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed,gnomAD rs1209440421 22q13.1 22 39964453 T null K * 27 27 stop gained 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed,gnomAD rs1354579423 22q13.1 22 39964454 G null K R 27 27 missense 0.0 unknown 0.18 tolerated 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed,gnomAD rs1354579423 22q13.1 22 39964454 C null K T 27 27 missense 0.0 unknown 0.09 tolerated 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed,gnomAD rs1314932549 22q13.1 22 39964456 A null A T 28 28 missense 0.0 unknown 0.02 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed rs2067151311 22q13.1 22 39964465 T null Q * 31 31 stop gained 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B 1000Genomes rs561892654 22q13.1 22 39964472 G null Q R 33 33 missense 0.0 unknown 0.06 tolerated 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed,gnomAD rs1414198674 22q13.1 22 39964475 C null K T 34 34 missense 0.0 unknown 0.01 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed,gnomAD rs950028905 22q13.1 22 39964483 T null Q * 37 37 stop gained 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed,gnomAD rs1295986482 22q13.1 22 39964492 T null L F 40 40 missense 0.0 unknown 0.09 tolerated 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed rs2067151629 22q13.1 22 39964495 A null E K 41 41 missense 0.0 unknown 0.48 tolerated 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed rs2067151629 22q13.1 22 39964495 C null E Q 41 41 missense 0.0 unknown 0.1 tolerated 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B gnomAD rs1390166424 22q13.1 22 39964498 A null V M 42 42 missense 0.0 unknown 0.0 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed,gnomAD rs2067151696 22q13.1 22 39964501 A null L I 43 43 missense 0.0 unknown 0.03 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed,gnomAD rs2067151696 22q13.1 22 39964501 G null L V 43 43 missense 0.0 unknown 0.03 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed,gnomAD rs1009960253 22q13.1 22 39964504 C null K Q 44 44 missense 0.0 unknown 0.06 tolerated 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed,gnomAD rs1021486452 22q13.1 22 39964507 C null A P 45 45 missense 0.0 unknown 0.0 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed,gnomAD rs1021486452 22q13.1 22 39964507 A null A T 45 45 missense 0.0 unknown 0.03 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed,gnomAD rs1044803074 22q13.1 22 39964508 T null A V 45 45 missense 0.0 unknown 0.2 tolerated 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed,gnomAD rs1006051760 22q13.1 22 39964516 A null V M 48 48 missense 0.0 unknown 0.22 tolerated 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed rs2067152016 22q13.1 22 39964520 A null G E 49 49 missense 0.0 unknown 0.05 tolerated 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B 1000Genomes,TOPMed,gnomAD rs566144131 22q13.1 22 39964525 A null G R 51 51 0.000392465 missense 0.0 unknown 0.01 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed,gnomAD rs927193490 22q13.1 22 39964528 A null P T 52 52 missense 0.0 unknown 0.02 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed,gnomAD rs897307469 22q13.1 22 39964531 G null L V 53 53 missense 0.0 unknown 0.02 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed,gnomAD rs993247212 22q13.1 22 39964544 A null G E 57 57 missense 0.0 unknown 0.04 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed,gnomAD rs1209588458 22q13.1 22 39964555 G null S A 61 61 missense 0.0 unknown 0.01 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B Ensembl rs994366137 22q13.1 22 39964556 T null S F 61 61 missense 0.0 unknown 0.03 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B Ensembl rs2067152355 22q13.1 22 39964559 A null G D 62 62 missense 0.0 unknown 0.02 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B TOPMed rs2067152386 22q13.1 22 39964561 G null K E 63 63 missense 0.0 unknown 0.0 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B gnomAD rs1481613386 22q13.1 22 39964566 T null K N 64 64 missense 0.0 unknown 0.02 deleterious 0 A0A024R1R8 TMA7B Translation machinery-associated protein 7B Ensembl rs2145674519 22q13.1 22 39964567 C null * Q 65 65 stop lost 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 gnomAD rs1399767623 15q25.2 15 82627340 C null C G 75 75 missense 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 ExAC,TOPMed rs769267245 15q25.2 15 82627313 A null L F 84 84 missense 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs751474815 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82627282 T null R Q 94 94 missense 0.007 benign 0.05 tolerated - low confidence 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 1000Genomes rs2151317996 15q25.2 15 82627217 A null R * 116 116 missense 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs761900804 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82627216 T null R Q 116 116 missense 0.005 benign 0.04 deleterious - low confidence 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 ExAC,gnomAD rs774544798 15q25.2 15 82627208 A null H Y 119 119 missense 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs201068240 15q25.2 15 82571485 C null T A 140 140 missense 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 1000Genomes,ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs374422926 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82571478 A null A V 142 142 0.0002 missense 0.254 benign 0.01 deleterious - low confidence 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200188266 15q25.2 15 82571464 A null R C 147 147 missense 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 ESP,ExAC,TOPMed,gnomAD rs370471256 15q25.2 15 82571364 T null A D 180 180 missense 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 ESP,ExAC,TOPMed,gnomAD rs202165773 15q25.2 15 82571357 T null S R 182 182 missense 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 1000Genomes,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs374108325 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82557975 A null L F 191 191 0.0002 missense 0.997 probably damaging 0.0 deleterious - low confidence 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 ESP,ExAC,gnomAD rs377642839 15q25.2 15 82557960 T null G R 196 196 missense 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 dbSNP,dbSNP,gnomAD rs1383859431 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82557947 T null G E 200 200 missense 0.187 benign 0.03 deleterious - low confidence 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 TOPMed,dbSNP,dbSNP rs897294113 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82557938 A null P L 203 203 missense 0.372 benign 0.03 deleterious - low confidence 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 dbSNP,dbSNP,gnomAD rs1198907027 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82557924 T null P T 208 208 missense 0.439 benign 0.04 deleterious - low confidence 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs762664847 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82557861 A null R C 229 229 missense 0.938 probably damaging 0.0 deleterious - low confidence 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 TOPMed,gnomAD rs866404089 15q25.2 15 82557860 A null R L 229 229 missense 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 ExAC,gnomAD rs760432506 15q25.2 15 82557845 A null P L 234 234 missense 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 TOPMed,gnomAD rs940994460 15q25.2 15 82556113 A null R C 266 266 missense 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 TOPMed,dbSNP,dbSNP,gnomAD rs1361276650 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82556112 T null R H 266 266 missense 0.996 probably damaging 0.02 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 ExAC,dbSNP,dbSNP,gnomAD rs758747685 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82556073 T null G D 279 279 missense 0.124 benign 0.03 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 TOPMed,gnomAD rs1567174374 15q25.2 15 82556068 A null P S 281 281 missense 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 gnomAD rs1312024593 15q25.2 15 82556046 T null G E 288 288 missense 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 TOPMed,dbSNP,dbSNP,gnomAD rs202101964 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82556044 T null V I 289 289 missense 0.225 benign 0.07 tolerated - low confidence 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 ExAC,TOPMed,gnomAD rs774102152 15q25.2 15 82556035 A null R W 292 292 missense 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 ExAC,TOPMed,gnomAD rs779412598 15q25.2 15 82555986 A null T I 308 308 missense 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 ExAC,TOPMed,gnomAD rs779412598 15q25.2 15 82555986 C null T S 308 308 missense 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs375007947 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82555973 G null K N 312 312 missense 0.677 possibly damaging 0.0 deleterious - low confidence 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 gnomAD rs1396851769 15q25.2 15 82555947 A null P L 321 321 missense 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 ESP,ExAC,TOPMed,gnomAD rs375566002 15q25.2 15 82555939 T null D N 324 324 missense 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 1000Genomes,ExAC,TOPMed rs199575057 15q25.2 15 82555930 T null E K 327 327 missense 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs777735904 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82553946 T null R Q 362 362 missense 0.007 benign 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 ExAC,TOPMed,gnomAD rs746969978 15q25.2 15 82553947 A null R W 362 362 missense 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 gnomAD rs1287067981 15q25.2 15 82553536 A null R C 392 392 missense 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 TOPMed,dbSNP,dbSNP rs1018099950 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82553481 T null R Q 410 410 missense 0.82 possibly damaging 0.08 tolerated 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 Ensembl rs2036628441 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82553459 T null M I 417 417 missense 0.0 benign 0.09 tolerated 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 ExAC,dbSNP,dbSNP,gnomAD rs755502093 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82552601 C null V G 425 425 missense 0.93 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 ExAC,gnomAD rs777908639 15q25.2 15 82552535 C null D G 447 447 missense 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 ExAC,dbSNP,dbSNP,gnomAD rs748240361 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82552499 T null R Q 459 459 missense 0.996 probably damaging 0.04 deleterious 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 ESP,ExAC,TOPMed,gnomAD rs373879261 15q25.2 15 82552491 A null R C 462 462 missense 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 TOPMed,gnomAD rs936176471 15q25.2 15 82549631 T null D N 475 475 missense 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 dbSNP,dbSNP,gnomAD rs1351988587 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82549616 A null R W 480 480 missense 0.005 benign 0.07 tolerated 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 Ensembl,dbSNP,dbSNP rs1321247240 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82549609 A null P L 482 482 missense 0.943 probably damaging 0.0 deleterious 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 Ensembl rs1330106798 15q25.2 15 82549593 T null D E 487 487 missense 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs375054209 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82549582 A null T M 491 491 missense 0.999 probably damaging 0.0 deleterious 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 ESP,ExAC,gnomAD rs375678414 15q25.2 15 82549493 A null G W 521 521 missense 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 ExAC,dbSNP,dbSNP,gnomAD rs200803573 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82547207 T null R Q 542 542 missense 0.217 benign 0.36 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 TOPMed rs2035380215 15q25.2 15 82547208 A null R W 542 542 missense 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 ESP,TOPMed rs373749169 15q25.2 15 82547184 T null A T 550 550 missense 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 TOPMed rs2035236648 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82546497 A null D Y 572 572 missense 0.999 probably damaging 0.01 deleterious 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 TOPMed,dbSNP,dbSNP,gnomAD rs893878284 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82546467 A null P S 582 582 missense 0.998 probably damaging 0.1 tolerated 1 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 TOPMed,dbSNP,dbSNP,gnomAD rs1214902859 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82544642 A null R C 611 611 missense 0.827 possibly damaging 0.01 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 TOPMed,dbSNP,dbSNP,gnomAD rs1242647902 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82544641 T null R H 611 611 missense 0.535 possibly damaging 0.05 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1 TOPMed,dbSNP,dbSNP,gnomAD rs1567161437 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82544621 A null R W 618 618 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 dbSNP,dbSNP,gnomAD rs1182611261 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q21 11 96371101 G null L P 2 2 missense 0.997 probably damaging 0.0 deleterious 1 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed,gnomAD rs1865237910 11q21 11 96371098 A null T I 3 3 missense 0.873 possibly damaging 0.1 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed,gnomAD rs1444795464 11q21 11 96371095 A null S F 4 4 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 gnomAD rs1395404234 11q21 11 96371092 C null L R 5 5 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 Ensembl rs1356456225 11q21 11 96371089 C null H R 6 6 missense 0.062 benign 0.11 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 gnomAD rs1401510304 11q21 11 96371090 A null H Y 6 6 missense 0.006 benign 0.32 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 Ensembl rs1865236898 11q21 11 96371086 G null Y S 7 7 missense 0.124 benign 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,gnomAD rs756578172 11q21 11 96371080 C null D G 9 9 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,TOPMed,gnomAD rs748530491 11q21 11 96371075 A null R C 11 11 missense 0.962 probably damaging 0.02 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 1000Genomes,ExAC,TOPMed,gnomAD rs199822469 11q21 11 96371074 T null R H 11 11 missense 0.144 benign 0.1 tolerated 1 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 1000Genomes,ExAC,TOPMed,gnomAD rs199822469 11q21 11 96371074 A null R L 11 11 missense 0.789 possibly damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 1000Genomes,ExAC,TOPMed,gnomAD rs199822469 11q21 11 96371074 G null R P 11 11 missense 0.95 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed,gnomAD rs1353352572 11q21 11 96371065 G null Q P 14 14 missense 0.827 possibly damaging 0.01 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed rs1865235878 11q21 11 96371062 A null P L 15 15 missense 0.99 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,gnomAD rs755300587 11q21 11 96371060 A null R C 16 16 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,TOPMed,gnomAD rs751861324 11q21 11 96371059 T null R H 16 16 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 gnomAD rs1865235185 11q21 11 96371052 G null E D 18 18 missense 0.07 benign 0.16 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed rs1865235011 11q21 11 96371049 C null S R 19 19 missense 0.33 benign 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed rs1304194006 11q21 11 96371045 G null V L 21 21 missense 0.036 benign 0.27 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed,gnomAD rs1865234538 11q21 11 96371042 G null S P 22 22 missense 0.939 probably damaging 0.02 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed,gnomAD rs1865234538 11q21 11 96371042 T null S T 22 22 missense 0.107 benign 0.35 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed rs1012943632 11q21 11 96371038 T null R K 23 23 missense 0.955 probably damaging 0.01 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 gnomAD rs1865233983 11q21 11 96371034 T null S R 24 24 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs758564028 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q21 11 96371033 A null R C 25 25 missense 0.995 probably damaging 0.01 deleterious 1 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ESP,ExAC,TOPMed,gnomAD rs147827239 11q21 11 96371032 T null R H 25 25 missense 0.995 probably damaging 0.02 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ESP,ExAC,TOPMed,gnomAD rs147827239 11q21 11 96371032 G null R P 25 25 missense 0.99 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,TOPMed,gnomAD rs758564028 11q21 11 96371033 T null R S 25 25 missense 0.785 possibly damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 Ensembl rs2136133525 11q21 11 96371028 A null W C 26 26 missense 0.999 probably damaging 0.03 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,TOPMed,gnomAD rs761794652 11q21 11 96371026 C null K R 27 27 missense 0.025 benign 0.06 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 Ensembl rs2136133482 11q21 11 96371022 A null E D 28 28 missense 0.01 benign 0.91 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,TOPMed,gnomAD rs200246505 11q21 11 96371019 G null Q H 29 29 missense 0.878 possibly damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 Ensembl rs934472910 11q21 11 96371020 A null Q L 29 29 missense 0.503 possibly damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,gnomAD rs763850284 11q21 11 96371014 C null K R 31 31 missense 0.869 possibly damaging 0.08 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed,gnomAD rs1277661168 11q21 11 96365149 G null E A 32 32 missense 0.669 possibly damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed,gnomAD rs1277661168 11q21 11 96365149 A null E V 32 32 missense 0.955 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,gnomAD rs757178798 11q21 11 96365147 A null R * 33 33 missense 1 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 dbSNP,dbSNP,gnomAD rs1351831485 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q21 11 96365146 T null R Q 33 33 missense 0.994 probably damaging 0.04 deleterious 1 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 Ensembl rs1864878264 11q21 11 96365144 G null V L 34 34 missense 0.604 possibly damaging 0.06 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,TOPMed,gnomAD rs753848269 11q21 11 96365141 T null E K 35 35 missense 0.748 possibly damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed rs1864877711 11q21 11 96365138 C null N D 36 36 missense 0.166 benign 0.01 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,TOPMed,gnomAD rs776286640 11q21 11 96365134 A null Y F 37 37 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,gnomAD rs763975074 11q21 11 96365135 G null Y H 37 37 missense 0.976 probably damaging 0.01 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 gnomAD rs1173396149 11q21 11 96365131 A null S F 38 38 missense 0.834 possibly damaging 0.02 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed,gnomAD rs1864875358 11q21 11 96365122 T null S N 41 41 missense 0.006 benign 0.14 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 Ensembl rs1864874817 11q21 11 96365119 G null I T 42 42 missense 0.647 possibly damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 gnomAD rs1478756839 11q21 11 96365120 C null I V 42 42 missense 0.153 benign 0.29 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 gnomAD rs1244602418 11q21 11 96365117 T null H N 43 43 missense 0.014 benign 0.31 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 Ensembl rs1864874116 11q21 11 96365113 T null L * 44 44 stop gained 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 Ensembl rs1864873972 11q21 11 96365109 A null K N 45 45 missense 0.117 benign 0.09 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 gnomAD rs1197777100 11q21 11 96365102 T null E K 48 48 missense 0.011 benign 0.71 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed rs553942551 11q21 11 96365097 T null N K 49 49 missense 0.124 benign 0.33 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ESP,TOPMed,dbSNP,dbSNP rs145938297 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q21 11 96365095 T null C Y 50 50 missense 0.662 possibly damaging 0.15 tolerated 1 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 gnomAD rs1463409202 11q21 11 96365092 C null S C 51 51 missense 0.799 possibly damaging 0.07 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 gnomAD rs1463409202 11q21 11 96365092 A null S F 51 51 missense 0.015 benign 0.13 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 gnomAD rs1463409202 11q21 11 96365092 T null S Y 51 51 missense 0.428 benign 0.18 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed rs1156897210 11q21 11 96365086 C null Q R 53 53 missense 0.783 possibly damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,gnomAD rs767224853 11q21 11 96365079 C null C W 55 55 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 gnomAD rs1347905901 11q21 11 96365078 G null G R 56 56 missense 0.971 probably damaging 0.01 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ESP,ExAC,TOPMed,gnomAD rs142315081 11q21 11 96365069 A null R C 59 59 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs202142231 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q21 11 96365068 T null R H 59 59 missense 0.997 probably damaging 0.0 deleterious 1 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 Ensembl rs577041830 11q21 11 96365065 C null Y C 60 60 missense 0.003 benign 0.18 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ESP,ExAC,TOPMed,gnomAD rs371250562 11q21 11 96365066 G null Y H 60 60 missense 0.003 benign 0.5 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,gnomAD rs762320483 11q21 11 96365063 C null C G 61 61 missense 0.194 benign 0.09 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed,gnomAD rs1369866170 11q21 11 96365054 C null S A 64 64 missense 0.053 benign 0.51 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 gnomAD rs1176363874 11q21 11 96365053 A null S L 64 64 missense 0.01 benign 0.88 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ESP,TOPMed rs145072428 11q21 11 96365042 G null S P 68 68 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,TOPMed,gnomAD rs777290067 11q21 11 96365038 T null G E 69 69 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed rs1864870290 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q21 11 96365039 T null G R 69 69 missense 1.0 probably damaging 0.0 deleterious 1 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 gnomAD rs1864869951 11q21 11 96365036 T null E K 70 70 missense 0.0 benign 1.0 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ESP,ExAC,TOPMed,gnomAD rs149992614 11q21 11 96365032 C null L W 71 71 missense 0.97 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,TOPMed,gnomAD rs747443742 11q21 11 96365024 G null T P 74 74 missense 0.006 benign 0.2 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ESP,ExAC,TOPMed,gnomAD rs139262571 11q21 11 96365019 G null R S 75 75 missense 0.419 benign 0.05 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,TOPMed,gnomAD rs746067996 11q21 11 96365014 G null M T 77 77 missense 0.814 possibly damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 Ensembl rs2136103432 11q21 11 96365012 T null Q K 78 78 missense 0.0 benign 0.23 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,TOPMed,gnomAD rs757384777 11q21 11 96365007 C null I M 79 79 missense 0.473 possibly damaging 0.11 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 gnomAD rs1171592071 11q21 11 96365008 G null I T 79 79 missense 0.001 benign 0.9 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ESP,ExAC,TOPMed,gnomAD rs370081474 11q21 11 96365009 C null I V 79 79 missense 0.01 benign 0.95 tolerated 1 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed rs1254198095 11q21 11 96365001 T null N K 81 81 missense 0.034 benign 0.01 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed rs1483926840 11q21 11 96364997 C null M V 83 83 missense 0.817 possibly damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed,gnomAD rs1239701750 11q21 11 96364993 C null S * 84 84 stop gained 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,gnomAD rs777695068 11q21 11 96364990 G null H P 85 85 missense 0.365 benign 0.02 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed,gnomAD rs978003769 11q21 11 96364989 T null H Q 85 85 missense 0.011 benign 0.07 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 gnomAD rs1457199867 11q21 11 96364991 A null H Y 85 85 missense 0.177 benign 0.03 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed rs1473082317 11q21 11 96364986 T null D E 86 86 missense 0.952 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed rs1864866445 11q21 11 96364988 G null D H 86 86 missense 0.865 possibly damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,gnomAD rs756043230 11q21 11 96364985 C null K E 87 87 missense 0.338 benign 0.07 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ESP,ExAC,TOPMed,gnomAD rs151240727 11q21 11 96364984 C null K R 87 87 missense 0.844 possibly damaging 0.04 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed rs1864865759 11q21 11 96364982 A null Q * 88 88 stop gained 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 1000Genomes,ExAC,TOPMed,gnomAD rs538688810 11q21 11 96359178 T null V M 89 89 0.00392465 missense 0.255 benign 0.04 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,TOPMed,gnomAD rs751245848 11q21 11 96359169 T null V I 92 92 missense 0.015 benign 0.08 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 gnomAD rs1377617796 11q21 11 96359165 T null G D 93 93 missense 0.74 possibly damaging 0.02 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 Ensembl rs1565300322 11q21 11 96359166 T null G S 93 93 missense 0.561 possibly damaging 0.01 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 Ensembl rs1591162707 11q21 11 96359154 G null A P 97 97 missense 0.544 possibly damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ESP,ExAC,TOPMed,gnomAD rs143699327 11q21 11 96359151 G null S R 98 98 missense 0.012 benign 0.3 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed,gnomAD rs1400059466 11q21 11 96359148 A null R C 99 99 missense 0.518 possibly damaging 0.01 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ESP,ExAC,TOPMed,gnomAD rs374755193 11q21 11 96359147 T null R H 99 99 missense 0.613 possibly damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed,gnomAD rs1363885370 11q21 11 96359142 C null R G 101 101 missense 0.158 benign 0.02 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,TOPMed,gnomAD rs749998983 11q21 11 96359141 T null R K 101 101 missense 0.003 benign 0.43 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,TOPMed,gnomAD rs749998983 11q21 11 96359141 G null R T 101 101 missense 0.011 benign 0.02 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,gnomAD rs764806237 11q21 11 96359139 C null I V 102 102 missense 0.0 benign 1.0 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed rs1864499225 11q21 11 96359136 C null Y D 103 103 missense 0.793 possibly damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed,gnomAD rs1350184654 11q21 11 96359131 T null H Q 104 104 missense 0.725 possibly damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed,gnomAD rs1255442378 11q21 11 96359126 C null L R 106 106 missense 0.78 possibly damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,gnomAD rs752331960 11q21 11 96359123 A null K I 107 107 missense 0.722 possibly damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed rs998895385 11q21 11 96359121 A null H Y 108 108 missense 0.323 benign 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 gnomAD rs1478167474 11q21 11 96359114 A null K I 110 110 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 gnomAD rs1265458738 11q21 11 96359113 G null K N 110 110 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed,gnomAD rs1864497392 11q21 11 96359112 T null F I 111 111 missense 0.118 benign 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,TOPMed,gnomAD rs776159948 11q21 11 96359108 C null K R 112 112 missense 0.019 benign 0.05 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,TOPMed,gnomAD rs767858209 11q21 11 96359100 C null Q E 115 115 missense 0.093 benign 0.21 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 Ensembl rs1864496692 11q21 11 96359098 A null Q H 115 115 missense 0.922 probably damaging 0.02 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 Ensembl rs1591162502 11q21 11 96359097 T null E K 116 116 missense 0.021 benign 0.61 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 1000Genomes,TOPMed,dbSNP,dbSNP,gnomAD rs1224221809 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q21 11 96359090 T null C Y 118 118 missense 0.951 probably damaging 0.09 tolerated 1 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,gnomAD rs759951325 11q21 11 96359087 A null T I 119 119 missense 0.014 benign 0.05 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC rs771243683 11q21 11 96359078 T null M K 122 122 missense 0.0 benign 1.0 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,gnomAD rs774577085 11q21 11 96359079 C null M V 122 122 missense 0.0 benign 0.14 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 Ensembl rs1864495016 11q21 11 96359075 A null T I 123 123 missense 0.371 benign 0.19 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 Ensembl rs1430082307 11q21 11 96359076 G null T P 123 123 missense 0.01 benign 0.26 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 Ensembl rs1430082307 11q21 11 96359076 A null T S 123 123 missense 0.08 benign 0.72 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 Ensembl rs1864494872 11q21 11 96359073 G null E Q 124 124 missense 0.029 benign 0.18 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,dbSNP,dbSNP,gnomAD rs749491502 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 11q21 11 96359070 A null E * 125 125 stop gained 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,gnomAD rs773320074 11q21 11 96359059 T null D E 128 128 missense 0.029 benign 0.16 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed,gnomAD rs1367846899 11q21 11 96359060 C null D G 128 128 missense 0.009 benign 0.02 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed,gnomAD rs1367846899 11q21 11 96359060 A null D V 128 128 missense 0.539 possibly damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 1000Genomes,ExAC,gnomAD rs201473665 11q21 11 96359058 T null E K 129 129 0.000196232 missense 0.57 possibly damaging 0.01 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,TOPMed,gnomAD rs781194187 11q21 11 96359055 C null Q E 130 130 missense 0.003 benign 0.09 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,TOPMed,gnomAD rs781194187 11q21 11 96359055 T null Q K 130 130 missense 0.014 benign 0.02 deleterious 1 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 gnomAD rs1467133882 11q21 11 96359051 G null V A 131 131 missense 0.929 probably damaging 0.07 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 Ensembl rs1555047003 11q21 11 96359046 A null E * 133 133 stop gained 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,TOPMed,gnomAD rs754865472 11q21 11 96359042 C null T R 134 134 missense 0.075 benign 0.07 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,gnomAD rs746878162 11q21 11 96359040 T null V M 135 135 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,gnomAD rs758162852 11q21 11 96359034 C null R G 137 137 missense 0.844 possibly damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,TOPMed,gnomAD rs750127560 11q21 11 96359033 G null R T 137 137 missense 0.414 benign 0.01 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed,gnomAD rs1373068855 11q21 11 96359027 C null F C 139 139 missense 0.99 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ESP,ExAC,TOPMed,gnomAD rs370981495 11q21 11 96359021 A null R L 141 141 missense 0.0 benign 0.05 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ESP,ExAC,TOPMed,gnomAD rs370981495 11q21 11 96359021 T null R Q 141 141 missense 0.0 benign 1.0 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs140072300 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q21 11 96359022 A null R W 141 141 missense 0.006 benign 0.0 deleterious 1 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,TOPMed,gnomAD rs753223173 11q21 11 96359016 C null K E 143 143 missense 0.001 benign 1.0 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed rs1864489843 11q21 11 96359006 T null G D 146 146 missense 0.972 probably damaging 0.03 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,gnomAD rs768141681 11q21 11 96358999 C null I M 148 148 missense 0.993 probably damaging 0.01 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 Ensembl rs1864489050 11q21 11 96358998 A null K * 149 149 stop gained 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,TOPMed,gnomAD rs759950258 11q21 11 96358997 C null K R 149 149 missense 0.001 benign 0.41 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,gnomAD rs752005830 11q21 11 96358993 G null E D 150 150 missense 0.114 benign 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 Ensembl rs1242150637 11q21 11 96358994 A null E V 150 150 missense 0.364 benign 0.02 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 Ensembl rs866289334 11q21 11 96353714 C null K E 151 151 missense 0.473 possibly damaging 0.26 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,gnomAD rs763310100 11q21 11 96353711 G null Y H 152 152 missense 0.01 benign 0.02 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 Ensembl rs2136039242 11q21 11 96353705 C null Q E 154 154 missense 0.0 benign 0.81 tolerated 1 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ESP,TOPMed,gnomAD rs146137167 11q21 11 96353704 C null Q R 154 154 missense 0.0 benign 0.43 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 1000Genomes,ExAC,gnomAD rs200144066 11q21 11 96353696 T null E K 157 157 0.000196232 missense 0.059 benign 0.22 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 Ensembl rs2136039143 11q21 11 96353686 C null N S 160 160 missense 0.017 benign 0.08 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs768645326 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q21 11 96353680 A null A V 162 162 missense 0.996 probably damaging 0.05 tolerated 1 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,gnomAD rs775300811 11q21 11 96353678 T null D N 163 163 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,gnomAD rs775300811 11q21 11 96353678 A null D Y 163 163 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 dbSNP,dbSNP,gnomAD rs1181649103 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q21 11 96353674 C null Y C 164 164 missense 0.638 possibly damaging 0.16 tolerated 1 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 TOPMed rs980069562 11q21 11 96353675 C null Y D 164 164 missense 0.117 benign 0.17 tolerated 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,gnomAD rs745727779 11q21 11 96353669 A null Q * 166 166 stop gained 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ExAC,gnomAD rs745727779 11q21 11 96353669 T null Q K 166 166 missense 0.01 benign 0.04 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 gnomAD rs1198219692 11q21 11 96353661 G null E D 168 168 missense 0.992 probably damaging 0.0 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 ESP,ExAC,gnomAD rs142932570 11q21 11 96353659 C null K R 169 169 missense 0.994 probably damaging 0.01 deleterious 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 gnomAD rs1241914590 11q21 11 96353649 G null L F 172 172 missense 0.006 benign 0.21 tolerated - low confidence 0 A0A024R3B8 CCDC82 Coiled-coil domain containing 82 Ensembl rs1381658856 11q21 11 96353650 C null L W 172 172 missense 0.676 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3B9 CRYAB Crystallin alpha B 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs139750142 [ClinVar]: Dilated cardiomyopathy 1II, [UniProt]: CTRCT16; uncertain significance, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:21866213 11q23.1 11 111910446 A null R C 2 2 missense 1.0 probably damaging 0.0 deleterious 0 Cataract 16, multiple types (CTRCT16) An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT16 includes posterior polar cataract, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. MIM:613763 pubmed:11577372,pubmed:18587492,pubmed:21866213 A0A024R3B9 CRYAB Crystallin alpha B 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs139750142 [ClinVar]: Dilated cardiomyopathy 1II, [UniProt]: CTRCT16; uncertain significance, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:21866213 11q23.1 11 111910446 A null R C 2 2 missense 1.0 probably damaging 0.0 deleterious 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV000691763 A0A024R3B9 CRYAB Crystallin alpha B 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139750142 11q23.1 11 111910446 C null R G 2 2 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Crystallin alpha B TOPMed,dbSNP,gnomAD rs987496548 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111910445 T null R H 2 2 missense 0.996 probably damaging 0.05 deleterious 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV001211410 A0A024R3B9 CRYAB Crystallin alpha B TOPMed,dbSNP,gnomAD rs987496548 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111910445 A null R L 2 2 missense 0.998 probably damaging 0.0 deleterious 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV001052378 A0A024R3B9 CRYAB Crystallin alpha B 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs139750142 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111910446 T null R S 2 2 missense 0.999 probably damaging 0.01 deleterious 1 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV001326086 A0A024R3B9 CRYAB Crystallin alpha B TOPMed rs17850134 11q23.1 11 111910438 A null E D 4 4 missense 0.022 benign 1.0 tolerated 0 A0A024R3B9 CRYAB Crystallin alpha B gnomAD rs1555165418 11q23.1 11 111910440 T null E K 4 4 missense 0.784 possibly damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Crystallin alpha B dbSNP rs2137382055 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111910437_111910458 p null K null 5 5 initiator codon variant 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV001914566 A0A024R3B9 CRYAB Crystallin alpha B 1000Genomes,ExAC,TOPMed,gnomAD rs542645787 11q23.1 11 111910434 G null D H 6 6 0.000392465 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Crystallin alpha B ExAC,dbSNP,gnomAD rs781913291 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111910431 C null R G 7 7 missense 0.945 probably damaging 0.15 tolerated 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV001214336 A0A024R3B9 CRYAB Crystallin alpha B Ensembl rs1965417253 11q23.1 11 111910429 G null R S 7 7 missense 0.925 probably damaging 0.04 deleterious 0 A0A024R3B9 CRYAB Crystallin alpha B gnomAD rs1555165409 11q23.1 11 111910427 G null F S 8 8 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Crystallin alpha B Ensembl,dbSNP rs1965416729 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111910404 C null H D 16 16 missense 1.0 probably damaging 0.0 deleterious 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV001060872 A0A024R3B9 CRYAB Crystallin alpha B ExAC,gnomAD rs782223550 11q23.1 11 111910397 A null S F 18 18 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Crystallin alpha B Ensembl,dbSNP rs797044515 11q23.1 11 111910386 A null L F 22 22 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Crystallin alpha B Ensembl,dbSNP rs2137381932 11q23.1 11 111910385 T null L H 22 22 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Crystallin alpha B TOPMed,gnomAD rs1185490043 11q23.1 11 111910381 G null K N 23 23 missense 0.026 benign 0.28 tolerated 0 A0A024R3B9 CRYAB Crystallin alpha B gnomAD rs1965415986 11q23.1 11 111910383 G null K Q 23 23 missense 0.709 possibly damaging 0.07 tolerated 0 A0A024R3B9 CRYAB Crystallin alpha B 1000Genomes,ExAC,TOPMed,gnomAD rs201474470 11q23.1 11 111910382 C null K R 23 23 0.000196232 missense 0.003 benign 0.07 tolerated 0 A0A024R3B9 CRYAB Crystallin alpha B 1000Genomes,ExAC,TOPMed,gnomAD rs201474470 11q23.1 11 111910382 G null K T 23 23 0.000196232 missense 0.403 benign 0.62 tolerated 0 A0A024R3B9 CRYAB Crystallin alpha B TOPMed,dbSNP,gnomAD rs1256600488 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111910376 C null K R 25 25 missense 0.96 probably damaging 0.02 deleterious 0 Cataract 16 multiple types MIM:613763 ClinVar:RCV002477816 A0A024R3B9 CRYAB Crystallin alpha B TOPMed,dbSNP,gnomAD rs1256600488 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111910376 C null K R 25 25 missense 0.96 probably damaging 0.02 deleterious 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV000797026,ClinVar:RCV002477816 A0A024R3B9 CRYAB Crystallin alpha B TOPMed,dbSNP,gnomAD rs1256600488 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111910376 C null K R 25 25 missense 0.96 probably damaging 0.02 deleterious 0 Fatal infantile hypertonic myofibrillar myopathy MIM:613869 ClinVar:RCV002477816 A0A024R3B9 CRYAB Crystallin alpha B TOPMed,dbSNP,gnomAD rs1256600488 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111910376 C null K R 25 25 missense 0.96 probably damaging 0.02 deleterious 0 Myofibrillar myopathy 2 MIM:608810 ClinVar:RCV002477816 A0A024R3B9 CRYAB Crystallin alpha B ExAC,TOPMed,dbSNP,gnomAD rs547282752 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111910374 G null V L 26 26 missense 0.061 benign 0.01 deleterious 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV001060121,ClinVar:RCV001295296 A0A024R3B9 CRYAB Crystallin alpha B ExAC,TOPMed,gnomAD rs547282752 11q23.1 11 111910374 T null V M 26 26 missense 0.953 probably damaging 0.01 deleterious 0 A0A024R3B9 CRYAB Crystallin alpha B 1000Genomes,ExAC,dbSNP,gnomAD rs553865461 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111910364 C null D G 29 29 0.000196232 missense 0.912 probably damaging 0.06 tolerated 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV000820487 A0A024R3B9 CRYAB Crystallin alpha B ExAC,gnomAD rs782452521 11q23.1 11 111910362 T null V M 30 30 missense 0.021 benign 0.2 tolerated 0 A0A024R3B9 CRYAB Crystallin alpha B TOPMed rs1168775790 11q23.1 11 111910358 G null I T 31 31 missense 0.993 probably damaging 0.01 deleterious 0 A0A024R3B9 CRYAB Crystallin alpha B Ensembl,dbSNP rs1965414571 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111910356 A null E * 32 32 stop gained 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV001388438 A0A024R3B9 CRYAB Crystallin alpha B TOPMed rs1965414470 11q23.1 11 111910352 G null V A 33 33 missense 0.979 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Crystallin alpha B Ensembl,dbSNP rs1965414373 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111910349 A null H L 34 34 missense 0.795 possibly damaging 0.01 deleterious 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV001304485 A0A024R3B9 CRYAB Crystallin alpha B TOPMed,dbSNP,gnomAD rs1029108489 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111910350 T null H N 34 34 missense 0.995 probably damaging 0.02 deleterious 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV000702354 A0A024R3B9 CRYAB Crystallin alpha B ExAC,gnomAD rs782728956 11q23.1 11 111910333 A null E D 39 39 missense 0.208 benign 0.22 tolerated 0 A0A024R3B9 CRYAB Crystallin alpha B ExAC,dbSNP,gnomAD rs782520163 [ClinVar]: Dilated cardiomyopathy 1II, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111910332 A null R C 40 40 missense 1.0 probably damaging 0.01 deleterious 1 Cataract 16 multiple types MIM:613763 ClinVar:RCV002503574 A0A024R3B9 CRYAB Crystallin alpha B ExAC,dbSNP,gnomAD rs782520163 [ClinVar]: Dilated cardiomyopathy 1II, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111910332 A null R C 40 40 missense 1.0 probably damaging 0.01 deleterious 1 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV001916474,ClinVar:RCV002503574 A0A024R3B9 CRYAB Crystallin alpha B ExAC,dbSNP,gnomAD rs782520163 [ClinVar]: Dilated cardiomyopathy 1II, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111910332 A null R C 40 40 missense 1.0 probably damaging 0.01 deleterious 1 Fatal infantile hypertonic myofibrillar myopathy MIM:613869 ClinVar:RCV002503574 A0A024R3B9 CRYAB Crystallin alpha B ExAC,dbSNP,gnomAD rs782520163 [ClinVar]: Dilated cardiomyopathy 1II, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111910332 A null R C 40 40 missense 1.0 probably damaging 0.01 deleterious 1 Myofibrillar myopathy 2 MIM:608810 ClinVar:RCV002503574 A0A024R3B9 CRYAB Crystallin alpha B ExAC,gnomAD rs782520163 11q23.1 11 111910332 C null R G 40 40 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Crystallin alpha B 1000Genomes,ExAC,gnomAD rs144451841 11q23.1 11 111910331 T null R H 40 40 missense 1.0 probably damaging 0.03 deleterious 0 A0A024R3B9 CRYAB Crystallin alpha B 1000Genomes,ExAC,dbSNP,gnomAD rs144451841 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Developmental cataract 11q23.1 11 111910331 A null R L 40 40 missense 1.0 probably damaging 0.0 deleterious 0 Developmental cataract ClinVar:RCV000203405 A0A024R3B9 CRYAB Crystallin alpha B 1000Genomes,ExAC,dbSNP,gnomAD rs144451841 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Developmental cataract 11q23.1 11 111910331 A null R L 40 40 missense 1.0 probably damaging 0.0 deleterious 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV003574720 A0A024R3B9 CRYAB Crystallin alpha B TOPMed,dbSNP,gnomAD rs886039099 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111910327 G null Q H 41 41 missense 1.0 probably damaging 0.0 deleterious 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV001854985 A0A024R3B9 CRYAB Crystallin alpha B Ensembl rs1114167341 11q23.1 11 111908966 G null D A 42 42 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Crystallin alpha B gnomAD rs1555165258 11q23.1 11 111908965 C null D E 42 42 missense 0.564 possibly damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Crystallin alpha B gnomAD rs387907339 11q23.1 11 111908967 A null D Y 42 42 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Crystallin alpha B TOPMed,gnomAD rs1555165257 11q23.1 11 111908953 T null F L 46 46 missense 0.458 possibly damaging 0.06 tolerated 0 A0A024R3B9 CRYAB Crystallin alpha B dbSNP rs281865142 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111908949 l null S null 48 48 frameshift 0 Cataract 16 multiple types MIM:613763 ClinVar:RCV002504850 A0A024R3B9 CRYAB Crystallin alpha B dbSNP rs281865142 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111908949 l null S null 48 48 frameshift 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV000694268,ClinVar:RCV002504850 A0A024R3B9 CRYAB Crystallin alpha B dbSNP rs281865142 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111908949 l null S null 48 48 frameshift 0 Fatal infantile hypertonic myofibrillar myopathy MIM:613869 ClinVar:RCV002504850 A0A024R3B9 CRYAB Crystallin alpha B dbSNP rs281865142 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111908949 l null S null 48 48 frameshift 0 Myofibrillar myopathy 2 MIM:608810 ClinVar:RCV000032215,ClinVar:RCV002504850 A0A024R3B9 CRYAB Crystallin alpha B gnomAD rs1555165252 11q23.1 11 111908941 G null E D 50 50 missense 0.189 benign 0.04 deleterious 0 A0A024R3B9 CRYAB Crystallin alpha B TOPMed,gnomAD rs876657766 11q23.1 11 111908939 C null F C 51 51 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Crystallin alpha B TOPMed,dbSNP,gnomAD rs876657766 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111908939 G null F S 51 51 missense 1.0 probably damaging 0.0 deleterious 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV001347839 A0A024R3B9 CRYAB Crystallin alpha B ExAC,TOPMed,dbSNP,gnomAD rs781915800 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111908930 C null K R 54 54 missense 0.015 benign 1.0 tolerated 0 Cataract 16 multiple types MIM:613763 ClinVar:RCV002492345 A0A024R3B9 CRYAB Crystallin alpha B ExAC,TOPMed,dbSNP,gnomAD rs781915800 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111908930 C null K R 54 54 missense 0.015 benign 1.0 tolerated 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV002048146,ClinVar:RCV002492345 A0A024R3B9 CRYAB Crystallin alpha B ExAC,TOPMed,dbSNP,gnomAD rs781915800 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111908930 C null K R 54 54 missense 0.015 benign 1.0 tolerated 0 Fatal infantile hypertonic myofibrillar myopathy MIM:613869 ClinVar:RCV002492345 A0A024R3B9 CRYAB Crystallin alpha B ExAC,TOPMed,dbSNP,gnomAD rs781915800 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111908930 C null K R 54 54 missense 0.015 benign 1.0 tolerated 0 Myofibrillar myopathy 2 MIM:608810 ClinVar:RCV002492345 A0A024R3B9 CRYAB Crystallin alpha B ExAC,TOPMed,dbSNP,gnomAD rs781915800 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111908930 G null K T 54 54 missense 0.952 probably damaging 0.0 deleterious 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV001229768 A0A024R3B9 CRYAB Crystallin alpha B ExAC,TOPMed,dbSNP,gnomAD rs782206421 [ClinVar]: Dilated cardiomyopathy 1II, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q23.1 11 111908924 T null R Q 56 56 missense 0.952 probably damaging 0.03 deleterious 1 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV001319225 A0A024R3B9 CRYAB Crystallin alpha B ExAC,TOPMed,dbSNP,gnomAD rs534473091 [ClinVar]: Dilated cardiomyopathy 1II, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111908925 A null R W 56 56 missense 0.993 probably damaging 0.0 deleterious 0 Cataract 16 multiple types MIM:613763 ClinVar:RCV002481349 A0A024R3B9 CRYAB Crystallin alpha B ExAC,TOPMed,dbSNP,gnomAD rs534473091 [ClinVar]: Dilated cardiomyopathy 1II, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111908925 A null R W 56 56 missense 0.993 probably damaging 0.0 deleterious 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV000813845,ClinVar:RCV002481349 A0A024R3B9 CRYAB Crystallin alpha B ExAC,TOPMed,dbSNP,gnomAD rs534473091 [ClinVar]: Dilated cardiomyopathy 1II, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111908925 A null R W 56 56 missense 0.993 probably damaging 0.0 deleterious 0 Fatal infantile hypertonic myofibrillar myopathy MIM:613869 ClinVar:RCV002481349 A0A024R3B9 CRYAB Crystallin alpha B ExAC,TOPMed,dbSNP,gnomAD rs534473091 [ClinVar]: Dilated cardiomyopathy 1II, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111908925 A null R W 56 56 missense 0.993 probably damaging 0.0 deleterious 0 Myofibrillar myopathy 2 MIM:608810 ClinVar:RCV002481349 A0A024R3B9 CRYAB Crystallin alpha B ExAC,TOPMed,gnomAD rs782635893 11q23.1 11 111908920 C null I M 57 57 missense 0.957 probably damaging 0.04 deleterious 0 A0A024R3B9 CRYAB Crystallin alpha B Ensembl,dbSNP rs876657444 11q23.1 11 111908922 C null I V 57 57 missense 0.012 benign 0.19 tolerated 0 A0A024R3B9 CRYAB Crystallin alpha B 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs374661019 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111908919 C null P A 58 58 0.000196232 missense 1.0 probably damaging 0.01 deleterious 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV001318195 A0A024R3B9 CRYAB Crystallin alpha B TOPMed rs1965362286 11q23.1 11 111908918 A null P L 58 58 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Crystallin alpha B 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs374661019 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111908919 A null P S 58 58 0.000196232 missense 1.0 probably damaging 0.0 deleterious 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV001216668 A0A024R3B9 CRYAB Crystallin alpha B dbSNP rs2137378811 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111908916 l null A null 59 59 frameshift 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV002045122 A0A024R3B9 CRYAB Crystallin alpha B Ensembl rs2137378794 11q23.1 11 111908915 T null A D 59 59 missense 0.04 benign 0.26 tolerated 0 A0A024R3B9 CRYAB Crystallin alpha B TOPMed,dbSNP rs1286547434 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111908911 C null D E 60 60 missense 0.138 benign 0.01 deleterious 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV001954933 A0A024R3B9 CRYAB Crystallin alpha B Ensembl rs899795789 11q23.1 11 111908906 C null D G 62 62 missense 0.992 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Crystallin alpha B TOPMed rs1327383479 11q23.1 11 111908907 T null D N 62 62 missense 0.605 possibly damaging 0.06 tolerated 0 A0A024R3B9 CRYAB Crystallin alpha B Ensembl rs1566402887 11q23.1 11 111908903 A null P L 63 63 missense 0.484 possibly damaging 0.05 tolerated 0 A0A024R3B9 CRYAB Crystallin alpha B Ensembl rs1965361387 11q23.1 11 111908904 A null P S 63 63 missense 0.12 benign 0.06 tolerated 0 A0A024R3B9 CRYAB Crystallin alpha B Ensembl rs1208156922 11q23.1 11 111908901 C null L V 64 64 missense 0.176 benign 0.11 tolerated 0 A0A024R3B9 CRYAB Crystallin alpha B ExAC,dbSNP,gnomAD rs782672409 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111908895 C null I V 66 66 missense 0.341 benign 0.65 tolerated 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV001906788 A0A024R3B9 CRYAB Crystallin alpha B Ensembl,dbSNP rs2137378724 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111908891 A null T I 67 67 missense 0.934 probably damaging 0.0 deleterious 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV002048908 A0A024R3B9 CRYAB Crystallin alpha B gnomAD rs1555165243 11q23.1 11 111908888 T null S * 68 68 stop gained 0 A0A024R3B9 CRYAB Crystallin alpha B ESP,ExAC,TOPMed,gnomAD rs371079119 11q23.1 11 111908886 G null S P 69 69 missense 0.954 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Crystallin alpha B ESP,ExAC,TOPMed,dbSNP,gnomAD rs371079119 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Cardiomyopathy 11q23.1 11 111908886 T null S T 69 69 missense 0.037 benign 0.25 tolerated 0 Cardiomyopathy (CMYO) pubmed:21810866,ClinVar:RCV000770311 A0A024R3B9 CRYAB Crystallin alpha B ESP,ExAC,TOPMed,dbSNP,gnomAD rs371079119 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Cardiomyopathy 11q23.1 11 111908886 T null S T 69 69 missense 0.037 benign 0.25 tolerated 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV000537120 A0A024R3B9 CRYAB Crystallin alpha B Ensembl,dbSNP rs387907336 [ClinVar]: Cataract 16 multiple types pubmed:16505043 11q23.1 11 111908874 T null D N 73 73 missense 0.994 probably damaging 0.01 deleterious 0 Cataract 16 multiple types MIM:613763 ClinVar:RCV000034840 A0A024R3B9 CRYAB Crystallin alpha B Ensembl,dbSNP rs1965359147 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111908868 A null V F 75 75 missense 0.872 possibly damaging 0.0 deleterious 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV001215921 A0A024R3B9 CRYAB Crystallin alpha B ExAC,TOPMed,dbSNP,gnomAD rs782629197 [ClinVar]: Cardiomyopathy 11q23.1 11 111908865 A null L F 76 76 missense 0.996 probably damaging 0.0 deleterious 0 Cardiomyopathy (CMYO) pubmed:21810866,ClinVar:RCV001170407 A0A024R3B9 CRYAB Crystallin alpha B ExAC,TOPMed,dbSNP,gnomAD rs782629197 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111908865 C null L V 76 76 missense 0.982 probably damaging 0.0 deleterious 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV001906953 A0A024R3B9 CRYAB Crystallin alpha B TOPMed,gnomAD rs1246649844 11q23.1 11 111908858 T null V E 78 78 missense 0.993 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Crystallin alpha B ExAC,TOPMed,dbSNP,gnomAD rs781852612 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111908859 G null V L 78 78 missense 0.003 benign 0.38 tolerated 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV001304822 A0A024R3B9 CRYAB Crystallin alpha B ExAC,TOPMed,gnomAD rs781852612 11q23.1 11 111908859 T null V M 78 78 missense 0.791 possibly damaging 0.01 deleterious 0 A0A024R3B9 CRYAB Crystallin alpha B gnomAD rs1555165234 11q23.1 11 111908855 A null N I 79 79 missense 0.275 benign 0.11 tolerated 0 A0A024R3B9 CRYAB Crystallin alpha B gnomAD rs1555165234 11q23.1 11 111908855 C null N S 79 79 missense 0.003 benign 0.74 tolerated 0 A0A024R3B9 CRYAB Crystallin alpha B gnomAD rs1555165235 11q23.1 11 111908856 A null N Y 79 79 missense 0.367 benign 0.15 tolerated 0 A0A024R3B9 CRYAB Crystallin alpha B ExAC,gnomAD rs782799100 11q23.1 11 111908852 G null G A 80 80 missense 0.047 benign 1.0 tolerated 0 A0A024R3B9 CRYAB Crystallin alpha B ExAC,gnomAD rs782799100 11q23.1 11 111908852 T null G E 80 80 missense 0.974 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Crystallin alpha B ExAC,gnomAD rs782799100 11q23.1 11 111908852 A null G V 80 80 missense 0.685 possibly damaging 0.02 deleterious 0 A0A024R3B9 CRYAB Crystallin alpha B Ensembl rs2137378604 11q23.1 11 111908849 T null P Q 81 81 missense 0.982 probably damaging 0.01 deleterious 0 A0A024R3B9 CRYAB Crystallin alpha B dbSNP rs1566402656 [ClinVar]: Cataract 16 multiple types pubmed:11577372 11q23.1 11 111908844 l null K null 83 83 frameshift 0 Cataract 16 multiple types MIM:613763 ClinVar:RCV000018466 A0A024R3B9 CRYAB Crystallin alpha B TOPMed rs1965357747 11q23.1 11 111908844 C null K E 83 83 missense 0.679 possibly damaging 0.12 tolerated 0 A0A024R3B9 CRYAB Crystallin alpha B Ensembl rs1592506131 11q23.1 11 111908843 C null K R 83 83 missense 0.439 benign 0.14 tolerated 0 A0A024R3B9 CRYAB Crystallin alpha B TOPMed,dbSNP,gnomAD rs104894202 [ClinVar]: Myofibrillar myopathy 2 pubmed:14681890 11q23.1 11 111908841 A null Q * 84 84 stop gained 0 Myofibrillar myopathy 2 MIM:608810 ClinVar:RCV000018468 A0A024R3B9 CRYAB Crystallin alpha B TOPMed,gnomAD rs104894202 11q23.1 11 111908841 C null Q E 84 84 missense 0.531 possibly damaging 1.0 tolerated 0 A0A024R3B9 CRYAB Crystallin alpha B ExAC,gnomAD rs782145127 11q23.1 11 111908840 C null Q R 84 84 missense 0.03 benign 0.5 tolerated 1 A0A024R3B9 CRYAB Crystallin alpha B Ensembl rs1592506105 11q23.1 11 111908837 G null V A 85 85 missense 0.017 benign 1.0 tolerated 0 A0A024R3B9 CRYAB Crystallin alpha B TOPMed,dbSNP,gnomAD rs1160682106 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111908835 C null S A 86 86 missense 0.006 benign 0.5 tolerated 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV002022757 A0A024R3B9 CRYAB Crystallin alpha B Ensembl,dbSNP rs868980796 [ClinVar]: Hypertrophic cardiomyopathy 11q23.1 11 111908834 A null S F 86 86 missense 0.388 benign 0.02 deleterious 0 Hypertrophic cardiomyopathy ClinVar:RCV000768500 A0A024R3B9 CRYAB Crystallin alpha B TOPMed,gnomAD rs1160682106 11q23.1 11 111908835 G null S P 86 86 missense 0.003 benign 0.52 tolerated 0 A0A024R3B9 CRYAB Crystallin alpha B dbSNP,gnomAD rs1555165228 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111908831 T null G D 87 87 missense 0.408 benign 0.48 tolerated 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV000547444 A0A024R3B9 CRYAB Crystallin alpha B dbSNP rs1566402514 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Myofibrillar myopathy 2 pubmed:14681890 11q23.1 11 111908827_111908828 l null P null 88 88 frameshift 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV003574702 A0A024R3B9 CRYAB Crystallin alpha B dbSNP rs1566402514 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Myofibrillar myopathy 2 pubmed:14681890 11q23.1 11 111908827_111908828 l null P null 88 88 frameshift 0 Myofibrillar myopathy 2 MIM:608810 ClinVar:RCV000018467 A0A024R3B9 CRYAB Crystallin alpha B gnomAD rs1555165227 11q23.1 11 111908826 T null E K 89 89 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Crystallin alpha B ESP,ExAC,dbSNP,gnomAD rs374169381 [ClinVar]: Dilated cardiomyopathy 1II, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q23.1 11 111908823 A null R C 90 90 missense 0.976 probably damaging 0.0 deleterious 1 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV000794223 A0A024R3B9 CRYAB Crystallin alpha B ESP,ExAC,gnomAD rs374169381 11q23.1 11 111908823 T null R S 90 90 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Crystallin alpha B Ensembl rs907356354 11q23.1 11 111908820 G null T P 91 91 missense 0.303 benign 0.16 tolerated 0 A0A024R3B9 CRYAB Crystallin alpha B gnomAD rs1555165225 11q23.1 11 111908817 G null I L 92 92 missense 0.955 probably damaging 0.01 deleterious 0 A0A024R3B9 CRYAB Crystallin alpha B ExAC,dbSNP,gnomAD rs782115863 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111908816 T null I N 92 92 missense 1.0 probably damaging 0.01 deleterious 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV001874764 A0A024R3B9 CRYAB Crystallin alpha B ExAC,gnomAD rs782115863 11q23.1 11 111908816 G null I T 92 92 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Crystallin alpha B Ensembl,dbSNP rs1592506005 [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Fatal infantile hypertonic myofibrillar myopathy, [ClinVar]: Cataract 16 multiple types, [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111908810 G null I T 94 94 missense 0.997 probably damaging 0.0 deleterious 0 Cataract 16 multiple types MIM:613763 ClinVar:RCV001105110 A0A024R3B9 CRYAB Crystallin alpha B Ensembl,dbSNP rs1592506005 [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Fatal infantile hypertonic myofibrillar myopathy, [ClinVar]: Cataract 16 multiple types, [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111908810 G null I T 94 94 missense 0.997 probably damaging 0.0 deleterious 0 Fatal infantile hypertonic myofibrillar myopathy MIM:613869 ClinVar:RCV001103197 A0A024R3B9 CRYAB Crystallin alpha B Ensembl,dbSNP rs1592506005 [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Fatal infantile hypertonic myofibrillar myopathy, [ClinVar]: Cataract 16 multiple types, [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111908810 G null I T 94 94 missense 0.997 probably damaging 0.0 deleterious 0 Hypertrophic cardiomyopathy ClinVar:RCV000999592 A0A024R3B9 CRYAB Crystallin alpha B Ensembl,dbSNP rs1592506005 [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Fatal infantile hypertonic myofibrillar myopathy, [ClinVar]: Cataract 16 multiple types, [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111908810 G null I T 94 94 missense 0.997 probably damaging 0.0 deleterious 0 Myofibrillar myopathy 2 MIM:608810 ClinVar:RCV001103196 A0A024R3B9 CRYAB Crystallin alpha B gnomAD rs1555165224 11q23.1 11 111908811 C null I V 94 94 missense 0.062 benign 0.42 tolerated 0 A0A024R3B9 CRYAB Crystallin alpha B ExAC,TOPMed,dbSNP,gnomAD rs199861008 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111908807 A null T I 95 95 missense 0.101 benign 0.1 tolerated 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV001917848 A0A024R3B9 CRYAB Crystallin alpha B 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs186242388 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111908805 A null R C 96 96 missense 0.731 possibly damaging 0.33 tolerated 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV002513474 A0A024R3B9 CRYAB Crystallin alpha B ExAC,TOPMed,dbSNP,gnomAD rs782207078 [ClinVar]: Dilated cardiomyopathy 1II, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q23.1 11 111908804 T null R H 96 96 missense 0.962 probably damaging 0.28 tolerated 1 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV001229707 A0A024R3B9 CRYAB Crystallin alpha B TOPMed rs1348837968 11q23.1 11 111908799 T null E K 98 98 missense 0.25 benign 0.05 deleterious 0 A0A024R3B9 CRYAB Crystallin alpha B Ensembl,dbSNP rs1965354125 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111908793 C null P A 100 100 missense 0.045 benign 0.05 tolerated 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV001326252 A0A024R3B9 CRYAB Crystallin alpha B Ensembl,dbSNP rs2137378339 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111908789 C null A G 101 101 missense 0.007 benign 0.09 tolerated 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV002007005 A0A024R3B9 CRYAB Crystallin alpha B Ensembl,dbSNP rs2137378339 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111908789 C null A G 101 101 missense 0.007 benign 0.09 tolerated 0 Myofibrillar myopathy 2 MIM:608810 ClinVar:RCV002466738 A0A024R3B9 CRYAB Crystallin alpha B Ensembl rs1965353826 11q23.1 11 111908790 T null A T 101 101 missense 0.011 benign 0.05 tolerated 0 A0A024R3B9 CRYAB Crystallin alpha B ESP,TOPMed,dbSNP,gnomAD rs370803064 [ClinVar]: Dilated cardiomyopathy 1II, [UniProt]: CTRCT16; uncertain significance, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiomyopathy pubmed:18587492 11q23.1 11 111908781 T null A T 104 104 missense 0.009 benign 0.03 deleterious 1 Cardiomyopathy (CMYO) pubmed:21810866,ClinVar:RCV000770310 A0A024R3B9 CRYAB Crystallin alpha B ESP,TOPMed,dbSNP,gnomAD rs370803064 [ClinVar]: Dilated cardiomyopathy 1II, [UniProt]: CTRCT16; uncertain significance, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiomyopathy pubmed:18587492 11q23.1 11 111908781 T null A T 104 104 missense 0.009 benign 0.03 deleterious 1 Cataract 16, multiple types (CTRCT16) An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT16 includes posterior polar cataract, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. MIM:613763 pubmed:11577372,pubmed:18587492,pubmed:21866213 A0A024R3B9 CRYAB Crystallin alpha B ESP,TOPMed,dbSNP,gnomAD rs370803064 [ClinVar]: Dilated cardiomyopathy 1II, [UniProt]: CTRCT16; uncertain significance, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiomyopathy pubmed:18587492 11q23.1 11 111908781 T null A T 104 104 missense 0.009 benign 0.03 deleterious 1 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV001861505 A0A024R3B9 CRYAB Crystallin alpha B dbSNP rs1965352990 [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111908778 l null A null 105 105 frameshift 0 Myofibrillar myopathy 2 MIM:608810 ClinVar:RCV001175167 A0A024R3B9 CRYAB Crystallin alpha B gnomAD rs1555165218 11q23.1 11 111908777 T null A D 105 105 missense 0.01 benign 0.04 deleterious 0 A0A024R3B9 CRYAB Crystallin alpha B Ensembl rs11549441 11q23.1 11 111908778 G null A P 105 105 missense 0.0 benign 0.16 tolerated 0 A0A024R3B9 CRYAB Crystallin alpha B dbSNP rs1566402173 [ClinVar]: CRYAB-related disorder, [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111908777 l null K null 107 107 frameshift 0 CRYAB-related disorder ClinVar:RCV004698859 A0A024R3B9 CRYAB Crystallin alpha B dbSNP rs1566402173 [ClinVar]: CRYAB-related disorder, [ClinVar]: Myofibrillar myopathy 2 11q23.1 11 111908777 l null K null 107 107 frameshift 0 Myofibrillar myopathy 2 MIM:608810 ClinVar:RCV001334970 A0A024R3B9 CRYAB Crystallin alpha B Ensembl,dbSNP rs1965352034 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111908770 A null K N 107 107 missense 0.086 benign 0.05 tolerated 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV001069900 A0A024R3B9 CRYAB Crystallin alpha B dbSNP rs2137378244 [ClinVar]: Cataract 16 multiple types 11q23.1 11 111908769 l null K null 108 108 frameshift 0 Cataract 16 multiple types MIM:613763 ClinVar:RCV001542475 A0A024R3B9 CRYAB Crystallin alpha B TOPMed,dbSNP rs1965351856 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111908768 A null K I 108 108 missense 0.988 probably damaging 0.0 deleterious 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV001938549 A0A024R3B9 CRYAB Crystallin alpha B Ensembl,dbSNP rs1114167341 [UniProt]: found in patients with restrictive cardiomyopathy; likely pathogenic; reduces CRYAB and DES localization at the Z-bands and the intercalated disk in the myocardium; cytoplasmic aggregations of CRYAB and DES, [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Cardiomyopathy, familial restrictive, 1 pubmed:28493373 11q23.1 11 111908966 C null D G 109 109 missense 0 Cardiomyopathy, familial restrictive, 1 MIM:115210 ClinVar:RCV000491328 A0A024R3B9 CRYAB Crystallin alpha B Ensembl,dbSNP rs1114167341 [UniProt]: found in patients with restrictive cardiomyopathy; likely pathogenic; reduces CRYAB and DES localization at the Z-bands and the intercalated disk in the myocardium; cytoplasmic aggregations of CRYAB and DES, [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Cardiomyopathy, familial restrictive, 1 pubmed:28493373 11q23.1 11 111908966 C null D G 109 109 missense 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV000655020 A0A024R3B9 CRYAB Crystallin alpha B dbSNP,gnomAD rs387907339 [UniProt]: MFM2, [ClinVar]: Myofibrillar myopathy 2 pubmed:21920752 pubmed:21920752 11q23.1 11 111908967 G null D H 109 109 missense 0 Myofibrillar myopathy 2 MIM:608810 ClinVar:RCV000034843 A0A024R3B9 CRYAB Crystallin alpha B dbSNP,gnomAD rs387907339 [UniProt]: MFM2, [ClinVar]: Myofibrillar myopathy 2 pubmed:21920752 pubmed:21920752 11q23.1 11 111908967 G null D H 109 109 missense 0 Myopathy, myofibrillar, 2 (MFM2) A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM2 is characterized by weakness of the proximal and distal limb muscles, weakness of the neck, velopharynx and trunk muscles, hypertrophic cardiomyopathy, and cataract in a subset of patients. MIM:608810 pubmed:12601044,pubmed:14681890,pubmed:21920752,pubmed:9731540 A0A024R3B9 CRYAB Crystallin alpha B Ensembl rs1801966 11q23.1 11 111908766 T null * K 109 109 stop lost 0 A0A024R3B9 CRYAB Crystallin alpha B Ensembl,dbSNP rs104894201 [UniProt]: MFM2; decreased interactions with wild-type CRYAA and CRYAB but increased interactions with wild-type CRYBB2 and CRYGC; cytoplasmic aggregation, [ClinVar]: Myofibrillar myopathy 2 pubmed:12601044,pubmed:28493373,pubmed:9731540 pubmed:12601044,pubmed:12812987,pubmed:16483541,pubmed:26542570,pubmed:570292,pubmed:9731540 11q23.1 11 111908934 C null R G 120 120 missense 0 Myofibrillar myopathy 2 MIM:608810 ClinVar:RCV000018465 A0A024R3B9 CRYAB Crystallin alpha B Ensembl,dbSNP rs104894201 [UniProt]: MFM2; decreased interactions with wild-type CRYAA and CRYAB but increased interactions with wild-type CRYBB2 and CRYGC; cytoplasmic aggregation, [ClinVar]: Myofibrillar myopathy 2 pubmed:12601044,pubmed:28493373,pubmed:9731540 pubmed:12601044,pubmed:12812987,pubmed:16483541,pubmed:26542570,pubmed:570292,pubmed:9731540 11q23.1 11 111908934 C null R G 120 120 missense 0 Myopathy, myofibrillar, 2 (MFM2) A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM2 is characterized by weakness of the proximal and distal limb muscles, weakness of the neck, velopharynx and trunk muscles, hypertrophic cardiomyopathy, and cataract in a subset of patients. MIM:608810 pubmed:12601044,pubmed:14681890,pubmed:21920752,pubmed:9731540 A0A024R3B9 CRYAB Crystallin alpha B 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150516929 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Developmental cataract, [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Fatal infantile hypertonic myofibrillar myopathy, [ClinVar]: Primary familial hypertrophic cardiomyopathy, [UniProt]: CMD1II, [ClinVar]: Cardiomyopathy, [ClinVar]: Cataract 16 multiple types, [ClinVar]: CRYAB-related disorder, [ClinVar]: Myofibrillar Myopathy, Dominant pubmed:16793013 pubmed:16793013 11q23.1 11 111908832 T null G S 154 154 missense 0 CRYAB-related disorder ClinVar:RCV003914912 A0A024R3B9 CRYAB Crystallin alpha B 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150516929 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Developmental cataract, [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Fatal infantile hypertonic myofibrillar myopathy, [ClinVar]: Primary familial hypertrophic cardiomyopathy, [UniProt]: CMD1II, [ClinVar]: Cardiomyopathy, [ClinVar]: Cataract 16 multiple types, [ClinVar]: CRYAB-related disorder, [ClinVar]: Myofibrillar Myopathy, Dominant pubmed:16793013 pubmed:16793013 11q23.1 11 111908832 T null G S 154 154 missense 0 Cardiomyopathy (CMYO) pubmed:21810866,ClinVar:RCV001170406 A0A024R3B9 CRYAB Crystallin alpha B 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150516929 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Developmental cataract, [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Fatal infantile hypertonic myofibrillar myopathy, [ClinVar]: Primary familial hypertrophic cardiomyopathy, [UniProt]: CMD1II, [ClinVar]: Cardiomyopathy, [ClinVar]: Cataract 16 multiple types, [ClinVar]: CRYAB-related disorder, [ClinVar]: Myofibrillar Myopathy, Dominant pubmed:16793013 pubmed:16793013 11q23.1 11 111908832 T null G S 154 154 missense 0 Cardiomyopathy, dilated, 1II (CMD1II) A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. MIM:615184 pubmed:16483541,pubmed:16793013 A0A024R3B9 CRYAB Crystallin alpha B 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150516929 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Developmental cataract, [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Fatal infantile hypertonic myofibrillar myopathy, [ClinVar]: Primary familial hypertrophic cardiomyopathy, [UniProt]: CMD1II, [ClinVar]: Cardiomyopathy, [ClinVar]: Cataract 16 multiple types, [ClinVar]: CRYAB-related disorder, [ClinVar]: Myofibrillar Myopathy, Dominant pubmed:16793013 pubmed:16793013 11q23.1 11 111908832 T null G S 154 154 missense 0 Cataract 16 multiple types MIM:613763 ClinVar:RCV000297606 A0A024R3B9 CRYAB Crystallin alpha B 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150516929 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Developmental cataract, [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Fatal infantile hypertonic myofibrillar myopathy, [ClinVar]: Primary familial hypertrophic cardiomyopathy, [UniProt]: CMD1II, [ClinVar]: Cardiomyopathy, [ClinVar]: Cataract 16 multiple types, [ClinVar]: CRYAB-related disorder, [ClinVar]: Myofibrillar Myopathy, Dominant pubmed:16793013 pubmed:16793013 11q23.1 11 111908832 T null G S 154 154 missense 0 Developmental cataract ClinVar:RCV000203359 A0A024R3B9 CRYAB Crystallin alpha B 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150516929 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Developmental cataract, [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Fatal infantile hypertonic myofibrillar myopathy, [ClinVar]: Primary familial hypertrophic cardiomyopathy, [UniProt]: CMD1II, [ClinVar]: Cardiomyopathy, [ClinVar]: Cataract 16 multiple types, [ClinVar]: CRYAB-related disorder, [ClinVar]: Myofibrillar Myopathy, Dominant pubmed:16793013 pubmed:16793013 11q23.1 11 111908832 T null G S 154 154 missense 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV000034839 A0A024R3B9 CRYAB Crystallin alpha B 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150516929 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Developmental cataract, [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Fatal infantile hypertonic myofibrillar myopathy, [ClinVar]: Primary familial hypertrophic cardiomyopathy, [UniProt]: CMD1II, [ClinVar]: Cardiomyopathy, [ClinVar]: Cataract 16 multiple types, [ClinVar]: CRYAB-related disorder, [ClinVar]: Myofibrillar Myopathy, Dominant pubmed:16793013 pubmed:16793013 11q23.1 11 111908832 T null G S 154 154 missense 0 Fatal infantile hypertonic myofibrillar myopathy MIM:613869 ClinVar:RCV000398508 A0A024R3B9 CRYAB Crystallin alpha B 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150516929 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Developmental cataract, [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Fatal infantile hypertonic myofibrillar myopathy, [ClinVar]: Primary familial hypertrophic cardiomyopathy, [UniProt]: CMD1II, [ClinVar]: Cardiomyopathy, [ClinVar]: Cataract 16 multiple types, [ClinVar]: CRYAB-related disorder, [ClinVar]: Myofibrillar Myopathy, Dominant pubmed:16793013 pubmed:16793013 11q23.1 11 111908832 T null G S 154 154 missense 0 Hypertrophic cardiomyopathy ClinVar:RCV000852658 A0A024R3B9 CRYAB Crystallin alpha B 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150516929 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Developmental cataract, [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Fatal infantile hypertonic myofibrillar myopathy, [ClinVar]: Primary familial hypertrophic cardiomyopathy, [UniProt]: CMD1II, [ClinVar]: Cardiomyopathy, [ClinVar]: Cataract 16 multiple types, [ClinVar]: CRYAB-related disorder, [ClinVar]: Myofibrillar Myopathy, Dominant pubmed:16793013 pubmed:16793013 11q23.1 11 111908832 T null G S 154 154 missense 0 Myofibrillar Myopathy, Dominant ClinVar:RCV000352488 A0A024R3B9 CRYAB Crystallin alpha B 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150516929 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Developmental cataract, [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Fatal infantile hypertonic myofibrillar myopathy, [ClinVar]: Primary familial hypertrophic cardiomyopathy, [UniProt]: CMD1II, [ClinVar]: Cardiomyopathy, [ClinVar]: Cataract 16 multiple types, [ClinVar]: CRYAB-related disorder, [ClinVar]: Myofibrillar Myopathy, Dominant pubmed:16793013 pubmed:16793013 11q23.1 11 111908832 T null G S 154 154 missense 0 Primary familial hypertrophic cardiomyopathy (HCM) MIM:PS192600 pubmed:14607462,pubmed:20301725,pubmed:21810866,pubmed:25173338,ClinVar:RCV000157153 A0A024R3B9 CRYAB Crystallin alpha B 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs141638421 [ClinVar]: Dilated cardiomyopathy 1II, [UniProt]: CMD1II, [ClinVar]: Myofibrillar myopathy 2 pubmed:16483541 pubmed:16483541 11q23.1 11 111908822 T null R H 157 157 missense 0 Cardiomyopathy, dilated, 1II (CMD1II) A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. MIM:615184 pubmed:16483541,pubmed:16793013 A0A024R3B9 CRYAB Crystallin alpha B 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs141638421 [ClinVar]: Dilated cardiomyopathy 1II, [UniProt]: CMD1II, [ClinVar]: Myofibrillar myopathy 2 pubmed:16483541 pubmed:16483541 11q23.1 11 111908822 T null R H 157 157 missense 0 Cataract 16 multiple types MIM:613763 ClinVar:RCV002490468 A0A024R3B9 CRYAB Crystallin alpha B 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs141638421 [ClinVar]: Dilated cardiomyopathy 1II, [UniProt]: CMD1II, [ClinVar]: Myofibrillar myopathy 2 pubmed:16483541 pubmed:16483541 11q23.1 11 111908822 T null R H 157 157 missense 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV000034838,ClinVar:RCV002490468 A0A024R3B9 CRYAB Crystallin alpha B 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs141638421 [ClinVar]: Dilated cardiomyopathy 1II, [UniProt]: CMD1II, [ClinVar]: Myofibrillar myopathy 2 pubmed:16483541 pubmed:16483541 11q23.1 11 111908822 T null R H 157 157 missense 0 Fatal infantile hypertonic myofibrillar myopathy MIM:613869 ClinVar:RCV002490468 A0A024R3B9 CRYAB Crystallin alpha B 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs141638421 [ClinVar]: Dilated cardiomyopathy 1II, [UniProt]: CMD1II, [ClinVar]: Myofibrillar myopathy 2 pubmed:16483541 pubmed:16483541 11q23.1 11 111908822 T null R H 157 157 missense 0 Myofibrillar myopathy 2 MIM:608810 ClinVar:RCV002490468 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1449829605 11q24.1 11 123577472 T null E D 3 3 missense 0.791 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1026084418 11q24.1 11 123577477 A null G D 5 5 missense 0.029 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1026084418 11q24.1 11 123577477 T null G V 5 5 missense 0.281 benign 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs748022861 11q24.1 11 123577482 C null D H 7 7 missense 0.922 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs748022861 11q24.1 11 123577482 T null D Y 7 7 missense 0.946 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1592094492 11q24.1 11 123577485 G null H D 8 8 missense 0.125 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1247125379 11q24.1 11 123577486 C null H P 8 8 missense 0.046 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1478882645 11q24.1 11 123577489 G null S C 9 9 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,dbSNP,dbSNP,gnomAD rs1435538267 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123577492 T null S L 10 10 missense 0.118 benign 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC rs777548798 11q24.1 11 123577491 A null S T 10 10 missense 0.037 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs770509019 11q24.1 11 123577496 G null D E 11 11 missense 0.072 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1948843519 11q24.1 11 123577494 A null D N 11 11 missense 0.03 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1466228954 11q24.1 11 123577495 T null D V 11 11 missense 0.112 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1592094665 11q24.1 11 123577498 G null K R 12 12 missense 0.196 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs773851458 11q24.1 11 123577501 T null S F 13 13 missense 0.164 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1592094714 11q24.1 11 123577500 C null S P 13 13 missense 0.538 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs2276409 11q24.1 11 123577503 T null P S 14 14 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1275930227 11q24.1 11 123577510 A null T K 16 16 missense 0.112 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs761144627 11q24.1 11 123577513 T null P L 17 17 missense 0.006 benign 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs761144627 11q24.1 11 123577513 A null P Q 17 17 missense 0.098 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1948846764 11q24.1 11 123577512 T null P S 17 17 missense 0.011 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1948847908 11q24.1 11 123577516 G null E G 18 18 missense 0.034 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1271474946 11q24.1 11 123577522 A null G D 20 20 missense 0.04 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1218824523 11q24.1 11 123577521 A null G S 20 20 missense 0.037 benign 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs921395364 11q24.1 11 123577524 T null V L 21 21 missense 0.003 benign 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,dbSNP,dbSNP,gnomAD rs921395364 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123577524 A null V M 21 21 missense 0.555 possibly damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1209232507 11q24.1 11 123577527 A null Q K 22 22 missense 0.155 benign 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1290422654 11q24.1 11 123577528 T null Q L 22 22 missense 0.011 benign 0.02 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1290422654 11q24.1 11 123577528 G null Q R 22 22 missense 0.309 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs764365722 11q24.1 11 123577531 A null R H 23 23 missense 0.611 possibly damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs764365722 11q24.1 11 123577531 C null R P 23 23 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1948850467 11q24.1 11 123577537 C null C S 25 25 missense 0.001 benign 0.05 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1214117874 11q24.1 11 123577539 C null S P 26 26 missense 0.19 benign 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1948851200 11q24.1 11 123577543 T null S F 27 27 missense 0.369 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1163864464 11q24.1 11 123577551 A null G S 30 30 missense 0.023 benign 0.06 tolerated - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs750564920 11q24.1 11 123577554 G null R G 31 31 missense 0.608 possibly damaging 0.02 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1416519760 11q24.1 11 123577555 T null R L 31 31 missense 0.608 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1416519760 11q24.1 11 123577555 A null R Q 31 31 missense 0.955 probably damaging 0.03 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs750564920 11q24.1 11 123577554 T null R W 31 31 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1297932736 11q24.1 11 123577561 A null G D 33 33 missense 0.063 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs763079105 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123577560 A null G S 33 33 missense 0.005 benign 0.16 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs868846413 11q24.1 11 123577564 A null G D 34 34 missense 0.117 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs767530052 11q24.1 11 123577563 A null G S 34 34 missense 0.04 benign 0.21 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1592095229 11q24.1 11 123577566 C null K Q 35 35 missense 0.69 possibly damaging 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1592095252 11q24.1 11 123577571 A null N K 36 36 missense 0.852 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes rs2136232322 11q24.1 11 123577569 T null N Y 36 36 missense 0.968 probably damaging 0.02 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1592095284 11q24.1 11 123577573 T null S F 37 37 missense 0.702 possibly damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1948855700 11q24.1 11 123577576 G null K R 38 38 missense 0.852 possibly damaging 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ESP,ExAC,gnomAD rs377168373 11q24.1 11 123584317 G null S R 40 40 missense 0.767 possibly damaging 0.01 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1949807757 11q24.1 11 123584320 T null Q H 41 41 missense 0.896 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ESP,ExAC,gnomAD rs369716573 11q24.1 11 123584331 G null N S 45 45 missense 0.013 benign 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs2136552288 11q24.1 11 123594089 T null S I 48 48 missense 0.594 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs763984941 11q24.1 11 123594094 C null T P 50 50 missense 0.611 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1950978592 11q24.1 11 123594101 G null K R 52 52 missense 0.699 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes rs570959026 11q24.1 11 123594110 G null N S 55 55 missense 0.388 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1322809783 11q24.1 11 123594117 A null D E 57 57 missense 0.135 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs765007012 11q24.1 11 123594143 T null P L 66 66 missense 0.457 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1950981565 11q24.1 11 123594148 G null T A 68 68 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ExAC,TOPMed,gnomAD rs531490633 11q24.1 11 123594149 T null T M 68 68 0.000588697 missense 0.083 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ExAC,TOPMed,gnomAD rs531490633 11q24.1 11 123594149 G null T R 68 68 0.000588697 missense 0.009 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ESP,TOPMed rs375080947 11q24.1 11 123594758 C null D H 82 82 missense 0.328 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ESP,TOPMed rs375080947 11q24.1 11 123594758 A null D N 82 82 missense 0.124 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl,dbSNP rs1951071576 [ClinVar]: Intellectual disability 11q24.1 11 123594776 T null R * 88 88 missense 1 Intellectual disability pubmed:21956720,pubmed:25157020,pubmed:34131312,pubmed:34211152,ClinVar:RCV001291084 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1264166646 11q24.1 11 123594792 C null E A 93 93 missense 0.158 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B dbSNP,dbSNP,gnomAD rs1443514559 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123594801 A null I N 96 96 missense 0.715 possibly damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs749660161 11q24.1 11 123594816 T null N I 101 101 missense 0.634 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs2136569472 11q24.1 11 123594821 A null F I 103 103 missense 0.223 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs2136569534 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123594825 A null R H 104 104 missense 0.788 possibly damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1951074416 11q24.1 11 123594830 A null E K 106 106 missense 0.049 benign 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1951225111 11q24.1 11 123595945 T null T S 110 110 missense 0.007 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,dbSNP,dbSNP,gnomAD rs1170206716 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123595951 T null R C 112 112 missense 0.771 possibly damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1170206716 11q24.1 11 123595951 G null R G 112 112 missense 0.047 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1021191097 11q24.1 11 123595952 A null R H 112 112 missense 0.322 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1021191097 11q24.1 11 123595952 C null R P 112 112 missense 0.005 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1405181132 11q24.1 11 123595957 G null K E 114 114 missense 0.077 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1480759321 11q24.1 11 123595958 G null K R 114 114 missense 0.06 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs758654739 11q24.1 11 123595963 G null I V 116 116 missense 0.003 benign 0.11 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1340791303 11q24.1 11 123595969 G null S A 118 118 missense 0.006 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1304116416 11q24.1 11 123595970 T null S F 118 118 missense 0.009 benign 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,dbSNP,dbSNP,gnomAD rs1565436059 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123595973 C null M T 119 119 missense 0.019 benign 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1406405547 11q24.1 11 123595972 G null M V 119 119 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs780201409 11q24.1 11 123595994 A null R H 126 126 missense 0.471 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1430801211 11q24.1 11 123595996 A null L I 127 127 missense 0.594 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1013518328 11q24.1 11 123596011 C null I L 132 132 missense 0.345 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1592193958 11q24.1 11 123596032 C null E Q 139 139 missense 0.832 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1033800528 11q24.1 11 123596035 T null K * 140 140 stop gained 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1047450644 11q24.1 11 123600477 T null T S 144 144 missense 0.067 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,dbSNP,dbSNP rs1233169320 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123600481 T null S L 145 145 missense 0.337 benign 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs2136705479 11q24.1 11 123600487 T null G V 147 147 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs753231387 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123600489 T null A S 148 148 missense 0.006 benign 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs753231387 11q24.1 11 123600489 A null A T 148 148 missense 0.015 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1207068677 11q24.1 11 123600493 C null R P 149 149 missense 0.05 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B dbSNP,dbSNP,gnomAD rs1207068677 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123600493 A null R Q 149 149 missense 0.067 benign 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1351709340 11q24.1 11 123600492 T null R W 149 149 missense 0.726 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1444981884 11q24.1 11 123600501 G null T A 152 152 missense 0.006 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1951814760 11q24.1 11 123600508 C null M T 154 154 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1951814987 11q24.1 11 123600520 A null R Q 158 158 missense 0.082 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs900414573 11q24.1 11 123600543 C null E Q 166 166 missense 0.013 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1952252065 11q24.1 11 123603426 T null P S 168 168 missense 0.113 benign 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1952252065 11q24.1 11 123603426 A null P T 168 168 missense 0.113 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1397025441 11q24.1 11 123603429 G null L V 169 169 missense 0.545 possibly damaging 0.02 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs763377469 11q24.1 11 123603432 G null C G 170 170 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs766719644 11q24.1 11 123603452 G null H Q 176 176 missense 0.012 benign 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1227430707 11q24.1 11 123603465 C null C R 181 181 missense 0.632 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,dbSNP,dbSNP,gnomAD rs756116420 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123603477 A null E K 185 185 missense 0.637 possibly damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ExAC,gnomAD rs564971872 11q24.1 11 123603501 A null E K 193 193 0.000196232 missense 0.048 benign 0.02 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1952263870 11q24.1 11 123603514 A null P H 197 197 missense 0.062 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B dbSNP,dbSNP,gnomAD rs1373547245 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123603513 T null P S 197 197 missense 0.007 benign 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs771458771 11q24.1 11 123603521 G null D E 199 199 missense 0.007 benign 0.02 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs769186696 11q24.1 11 123603524 A null D E 200 200 missense 0.005 benign 0.06 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1952264992 11q24.1 11 123603523 G null D G 200 200 missense 0.026 benign 0.02 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs747738090 11q24.1 11 123603522 A null D N 200 200 missense 0.145 benign 0.03 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ESP,ExAC,TOPMed,gnomAD rs374293269 11q24.1 11 123603527 A null D E 201 201 missense 0.007 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,dbSNP,dbSNP,gnomAD rs895281458 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123603525 A null D N 201 201 missense 0.027 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs774716927 11q24.1 11 123603529 G null F C 202 202 missense 0.566 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs766828280 11q24.1 11 123603528 C null F L 202 202 missense 0.0 benign 0.05 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs759793942 11q24.1 11 123603533 G null N K 203 203 missense 0.449 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs767820521 11q24.1 11 123603534 G null T A 204 204 missense 0.027 benign 0.02 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1565448169 11q24.1 11 123603535 T null T I 204 204 missense 0.092 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs756273514 11q24.1 11 123603539 T null M I 205 205 missense 0.065 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1045479840 11q24.1 11 123603538 A null M K 205 205 missense 0.012 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs752857335 11q24.1 11 123603537 T null M L 205 205 missense 0.001 benign 0.02 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1045479840 11q24.1 11 123603538 G null M R 205 205 missense 0.007 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs752857335 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123603537 G null M V 205 205 missense 0.044 benign 0.03 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1952570782 11q24.1 11 123605324 G null Y C 207 207 missense 0.201 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1286717396 11q24.1 11 123605326 A null C S 208 208 missense 0.001 benign 0.07 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1952571657 11q24.1 11 123605331 C null E D 209 209 missense 0.026 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1049273508 11q24.1 11 123605334 T null E D 210 210 missense 0.023 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs766462983 11q24.1 11 123605336 G null I S 211 211 missense 0.012 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs766462983 11q24.1 11 123605336 C null I T 211 211 missense 0.118 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs994687856 11q24.1 11 123605342 A null V E 213 213 missense 0.015 benign 0.02 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1952573661 11q24.1 11 123605345 G null E G 214 214 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs754862708 11q24.1 11 123605357 C null V A 218 218 missense 0.006 benign 0.02 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs889307024 11q24.1 11 123605379 G null S R 225 225 missense 0.005 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs752494131 11q24.1 11 123605381 A null S N 226 226 missense 0.012 benign 0.02 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1455008458 11q24.1 11 123605383 G null I V 227 227 missense 0.0 benign 0.24 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1952575992 11q24.1 11 123605387 G null E G 228 228 missense 0.005 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1952576973 11q24.1 11 123605393 G null K R 230 230 missense 0.04 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs114589175 11q24.1 11 123605400 A null D E 232 232 missense 0.003 benign 1.0 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1952577571 11q24.1 11 123605404 T null S C 234 234 missense 0.761 possibly damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1952577858 11q24.1 11 123605407 T null P S 235 235 missense 0.003 benign 0.02 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1952578441 11q24.1 11 123605414 A null L Q 237 237 missense 0.43 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1349732962 11q24.1 11 123605417 T null P L 238 238 missense 0.001 benign 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1307248266 11q24.1 11 123605416 T null P S 238 238 missense 0.027 benign 0.02 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs770423087 11q24.1 11 123605429 C null I T 242 242 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs779453804 11q24.1 11 123605432 T null T I 243 243 missense 0.013 benign 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1472430563 11q24.1 11 123605435 T null N I 244 244 missense 0.01 benign 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1205423823 11q24.1 11 123605441 T null T I 246 246 missense 0.027 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1480183400 11q24.1 11 123605443 G null L V 247 247 missense 0.005 benign 0.06 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1952582488 11q24.1 11 123605446 T null T S 248 248 missense 0.007 benign 0.02 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140366389 11q24.1 11 123605450 G null S C 249 249 missense 0.757 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140366389 11q24.1 11 123605450 T null S F 249 249 missense 0.611 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1479518380 11q24.1 11 123605452 C null T P 250 250 missense 0.005 benign 0.07 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1592240842 11q24.1 11 123605456 A null G E 251 251 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1592240842 11q24.1 11 123605456 T null G V 251 251 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs769050280 11q24.1 11 123605458 G null S G 252 252 missense 0.005 benign 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1354383551 11q24.1 11 123605464 A null E K 254 254 missense 0.063 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1443363619 11q24.1 11 123605467 A null A T 255 255 missense 0.006 benign 0.12 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1282107937 11q24.1 11 123605474 C null V A 257 257 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs113672412 11q24.1 11 123605473 A null V I 257 257 missense 0.0 benign 0.48 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs759398423 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123605477 T null S L 258 258 missense 0.007 benign 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs759398423 11q24.1 11 123605477 G null S W 258 258 missense 0.594 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs748398230 11q24.1 11 123606616 A null G E 261 261 missense 0.04 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1453444317 11q24.1 11 123606619 C null L P 262 262 missense 0.012 benign 0.06 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1476036305 11q24.1 11 123606622 T null P L 263 263 missense 0.009 benign 0.08 tolerated - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs373808855 11q24.1 11 123606621 T null P S 263 263 missense 0.003 benign 0.02 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs373808855 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123606621 A null P T 263 263 missense 0.009 benign 0.02 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1030348550 11q24.1 11 123606625 C null L P 264 264 missense 0.003 benign 0.12 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1383849253 11q24.1 11 123606627 A null E K 265 265 missense 0.138 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1424407150 11q24.1 11 123606635 C null E D 267 267 missense 0.138 benign 0.08 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs771946953 11q24.1 11 123606636 A null A T 268 268 missense 0.04 benign 0.06 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs532856454 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123606637 T null A V 268 268 0.0004 missense 0.0 benign 0.5 tolerated - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2279519 11q24.1 11 123606644 T null E D 270 270 missense 0.001 benign 0.48 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1325291798 11q24.1 11 123606642 A null E K 270 270 missense 0.027 benign 0.32 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs753560680 11q24.1 11 123606646 A null G E 271 271 missense 0.0 benign 0.12 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs756933883 11q24.1 11 123606650 G null D E 272 272 missense 0.0 benign 0.92 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1380375088 11q24.1 11 123606648 T null D Y 272 272 missense 0.488 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs757894340 11q24.1 11 123606652 A null G E 273 273 missense 0.003 benign 0.28 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs749953166 11q24.1 11 123606651 A null G R 273 273 missense 0.089 benign 0.14 tolerated - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs757894340 11q24.1 11 123606652 T null G V 273 273 missense 0.063 benign 0.09 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1592246731 11q24.1 11 123606654 G null S A 274 274 missense 0.1 benign 0.05 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs747509131 11q24.1 11 123606655 T null S F 274 274 missense 0.044 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs747509131 11q24.1 11 123606655 A null S Y 274 274 missense 0.511 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1447653328 11q24.1 11 123606658 C null L P 275 275 missense 0.43 benign 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ExAC,TOPMed,gnomAD rs149488546 11q24.1 11 123606664 G null K R 277 277 0.000588697 missense 0.003 benign 0.05 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs267602745 11q24.1 11 123606666 A null E K 278 278 missense 0.003 benign 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1046775434 11q24.1 11 123606670 C null L P 279 279 missense 0.005 benign 0.02 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1046775434 11q24.1 11 123606670 G null L R 279 279 missense 0.392 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs375511617 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123606672 A null A T 280 280 missense 0.003 benign 0.38 tolerated - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1952784646 11q24.1 11 123606676 C null I T 281 281 missense 0.003 benign 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs191981781 11q24.1 11 123606675 G null I V 281 281 missense 0.001 benign 0.15 tolerated - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs114469707 11q24.1 11 123606682 G null N S 283 283 0.00156986 missense 0.001 benign 0.19 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs114469707 11q24.1 11 123606682 C null N T 283 283 0.00156986 missense 0.003 benign 0.03 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ESP,ExAC,TOPMed,gnomAD rs376872587 11q24.1 11 123606684 C null I L 284 284 missense 0.0 benign 0.19 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ESP,ExAC,TOPMed,gnomAD rs376872587 11q24.1 11 123606684 G null I V 284 284 missense 0.027 benign 0.13 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1322519595 11q24.1 11 123606689 T null M I 285 285 missense 0.0 benign 0.89 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1952786594 11q24.1 11 123606688 C null M T 285 285 missense 0.003 benign 0.07 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ExAC,dbSNP,dbSNP,gnomAD rs371265661 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123606687 G null M V 285 285 0.000196232 missense 0.0 benign 0.16 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1403860607 11q24.1 11 123606690 A null G R 286 286 missense 0.095 benign 0.02 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1952787891 11q24.1 11 123606694 G null E G 287 287 missense 0.044 benign 0.02 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1451766272 11q24.1 11 123606693 A null E K 287 287 missense 0.145 benign 0.03 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs774236612 11q24.1 11 123606700 C null I T 289 289 missense 0.007 benign 0.06 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ESP,TOPMed,gnomAD rs370508125 11q24.1 11 123606704 T null E D 290 290 missense 0.005 benign 0.2 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs76756402 11q24.1 11 123606705 C null M L 291 291 missense 0.0 benign 0.12 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs76756402 11q24.1 11 123606705 G null M V 291 291 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1279173737 11q24.1 11 123606708 T null I F 292 292 missense 0.147 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,dbSNP,dbSNP,gnomAD rs776432140 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123606711 A null A T 293 293 missense 0.038 benign 0.01 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1432159441 11q24.1 11 123606714 T null P S 294 294 missense 0.166 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1261292885 11q24.1 11 123606717 A null V M 295 295 missense 0.777 possibly damaging 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs761575476 11q24.1 11 123606726 G null P A 298 298 missense 0.073 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs761575476 11q24.1 11 123606726 T null P S 298 298 missense 0.034 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs764839388 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123606730 T null S L 299 299 missense 0.464 possibly damaging 0.02 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1258706185 11q24.1 11 123606739 A null F Y 302 302 missense 0.767 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1029451265 11q24.1 11 123606741 G null N D 303 303 missense 0.884 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ESP,ExAC,TOPMed,gnomAD rs377539345 11q24.1 11 123606742 T null N I 303 303 missense 0.449 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ESP,ExAC,TOPMed,gnomAD rs377539345 11q24.1 11 123606742 G null N S 303 303 missense 0.449 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1362832679 11q24.1 11 123606745 C null D A 304 304 missense 0.034 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1472693993 11q24.1 11 123606746 A null D E 304 304 missense 0.117 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1160778334 11q24.1 11 123606747 G null N D 305 305 missense 0.149 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1426518441 11q24.1 11 123606748 G null N S 305 305 missense 0.161 benign 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1952793461 11q24.1 11 123606750 A null E K 306 306 missense 0.845 possibly damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs866068201 11q24.1 11 123606754 G null D G 307 307 missense 0.782 possibly damaging 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1317231120 11q24.1 11 123606758 G null I M 308 308 missense 0.027 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1952794547 11q24.1 11 123606768 T null L F 312 312 missense 0.756 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B dbSNP,dbSNP,gnomAD rs1389438565 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123606772 A null S N 313 313 missense 0.44 benign 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs751049869 11q24.1 11 123606783 A null D N 317 317 missense 0.136 benign 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs867480430 11q24.1 11 123606789 A null H N 319 319 missense 0.204 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1479597418 11q24.1 11 123606791 A null H Q 319 319 missense 0.117 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,dbSNP,dbSNP,gnomAD rs755577223 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123606792 A null D N 320 320 missense 0.69 possibly damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1952797631 11q24.1 11 123606793 T null D V 320 320 missense 0.117 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1183869073 11q24.1 11 123608661 A null E K 323 323 missense 0.449 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ESP,ExAC,TOPMed,gnomAD rs200540342 11q24.1 11 123608664 A null V I 324 324 missense 0.291 benign 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1160028716 11q24.1 11 123608667 T null Q * 325 325 stop gained 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1339548414 11q24.1 11 123608668 C null Q P 325 325 missense 0.683 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373699394 11q24.1 11 123608677 G null Y C 328 328 0.000196232 missense 0.007 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373699394 11q24.1 11 123608677 T null Y F 328 328 0.000196232 missense 0.023 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1468703173 11q24.1 11 123608679 A null E K 329 329 missense 0.117 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs2136916365 11q24.1 11 123608683 T null D V 330 330 missense 0.841 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1450603005 11q24.1 11 123608695 A null R Q 334 334 missense 0.966 probably damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs748832223 11q24.1 11 123608694 T null R W 334 334 missense 0.997 probably damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1304266955 11q24.1 11 123608699 C null Q H 335 335 missense 0.137 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs765512259 11q24.1 11 123608702 A null Y * 336 336 stop gained 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1953091422 11q24.1 11 123608704 C null V A 337 337 missense 0.155 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs750631307 11q24.1 11 123608703 A null V M 337 337 missense 0.155 benign 0.16 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1953091729 11q24.1 11 123608712 A null V I 340 340 missense 0.003 benign 0.12 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs758559482 11q24.1 11 123608715 C null F L 341 341 missense 0.133 benign 0.03 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs770386203 11q24.1 11 123608719 G null N S 342 342 missense 0.009 benign 0.07 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1385913574 11q24.1 11 123608728 C null V A 345 345 missense 0.115 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B dbSNP,dbSNP,gnomAD rs1262409324 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123608727 A null V M 345 345 missense 0.983 probably damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1953094470 11q24.1 11 123608733 G null K E 347 347 missense 0.738 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ESP,ExAC,gnomAD rs367844387 11q24.1 11 123608740 G null Y C 349 349 missense 0.837 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs777552496 11q24.1 11 123608744 A null D E 350 350 missense 0.012 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,TOPMed rs554684318 11q24.1 11 123608746 A null L H 351 351 0.000196232 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B dbSNP,dbSNP,gnomAD rs1183079679 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123608745 A null L I 351 351 missense 0.374 benign 0.19 tolerated - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,TOPMed rs554684318 11q24.1 11 123608746 G null L R 351 351 0.000196232 missense 0.975 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1183079679 11q24.1 11 123608745 G null L V 351 351 missense 0.382 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1176395644 11q24.1 11 123608751 C null F L 353 353 missense 0.996 probably damaging 0.02 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1426446805 11q24.1 11 123608754 G null T A 354 354 missense 0.856 possibly damaging 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1416610584 11q24.1 11 123608757 G null N D 355 355 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1953098362 11q24.1 11 123608759 G null N K 355 355 missense 0.015 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1953098778 11q24.1 11 123608760 G null S A 356 356 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ESP,ExAC,TOPMed,gnomAD rs374919881 11q24.1 11 123608761 T null S L 356 356 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1000145974 11q24.1 11 123608763 T null P S 357 357 missense 0.015 benign 0.02 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1953100169 11q24.1 11 123608772 G null R G 360 360 missense 0.013 benign 0.02 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs774227885 11q24.1 11 123608773 A null R Q 360 360 missense 0.011 benign 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1953100169 11q24.1 11 123608772 T null R W 360 360 missense 0.824 possibly damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1953101439 11q24.1 11 123608776 G null D G 361 361 missense 0.018 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs745517263 11q24.1 11 123608775 A null D N 361 361 missense 0.627 possibly damaging 0.01 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs745517263 11q24.1 11 123608775 T null D Y 361 361 missense 0.806 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1402522933 11q24.1 11 123608778 A null F I 362 362 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs958828726 11q24.1 11 123608784 A null E K 364 364 missense 0.089 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs760013778 11q24.1 11 123608787 G null Q E 365 365 missense 0.828 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1368239562 11q24.1 11 123608789 T null Q H 365 365 missense 0.929 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1012745976 11q24.1 11 123608791 A null R Q 366 366 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1024525756 11q24.1 11 123608793 T null R C 367 367 missense 0.939 probably damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B ESP,TOPMed,gnomAD rs371994802 11q24.1 11 123608794 A null R H 367 367 missense 0.073 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs771808457 11q24.1 11 123608797 A null F Y 368 368 missense 0.819 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1450598849 11q24.1 11 123609798 C null I T 371 371 missense 0.204 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1953291041 11q24.1 11 123609797 G null I V 371 371 missense 0.003 benign 0.33 tolerated - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs772568357 11q24.1 11 123609802 G null I M 372 372 missense 0.536 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs760097861 11q24.1 11 123609801 A null I N 372 372 missense 0.044 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1383706222 11q24.1 11 123609800 G null I V 372 372 missense 0.001 benign 0.5 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1162276287 11q24.1 11 123609807 T null H L 374 374 missense 0.125 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1162276287 11q24.1 11 123609807 G null H R 374 374 missense 0.143 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1316181066 11q24.1 11 123609810 A null P Q 375 375 missense 0.978 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,dbSNP,dbSNP,gnomAD rs1406577746 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123609809 T null P S 375 375 missense 0.915 probably damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1435660703 11q24.1 11 123609813 A null W * 376 376 missense 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1204307633 11q24.1 11 123609815 T null K * 377 377 stop gained 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs918117659 11q24.1 11 123609816 G null K R 377 377 missense 0.02 benign 0.07 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs776005482 11q24.1 11 123609821 A null E K 379 379 missense 0.634 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs757192032 11q24.1 11 123609826 T null E D 380 380 missense 0.005 benign 0.17 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B dbSNP,dbSNP,gnomAD rs1284979934 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123609830 A null G R 382 382 missense 0.997 probably damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1953298497 11q24.1 11 123609843 A null R Q 386 386 missense 1.0 probably damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1953298791 11q24.1 11 123609846 A null V E 387 387 missense 0.223 benign 0.22 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs778881141 11q24.1 11 123609851 A null L I 389 389 missense 0.143 benign 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1465758519 11q24.1 11 123609858 T null T I 391 391 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1211051190 11q24.1 11 123609860 G null I V 392 392 missense 0.585 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs771900117 11q24.1 11 123609864 T null T I 393 393 missense 0.145 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs771900117 11q24.1 11 123609864 A null T N 393 393 missense 0.048 benign 0.06 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1592264224 11q24.1 11 123609863 C null T P 393 393 missense 0.012 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs774973587 11q24.1 11 123609866 T null L F 394 394 missense 0.725 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1592264296 11q24.1 11 123609873 C null N T 396 396 missense 0.651 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs760967017 11q24.1 11 123609876 T null P L 397 397 missense 0.994 probably damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs746597994 11q24.1 11 123609881 A null A T 399 399 missense 0.026 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs201009984 11q24.1 11 123609890 C null T P 402 402 0 missense 0.532 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1457769586 11q24.1 11 123609893 A null A T 403 403 missense 0.096 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1161268135 11q24.1 11 123609897 G null T S 404 404 missense 0.024 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs764491640 11q24.1 11 123609899 A null V I 405 405 missense 0.036 benign 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1334522808 11q24.1 11 123609903-123609904GG A null R K 406 406 missense 0.015 benign 0.02 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1297351943 11q24.1 11 123609909 A null T K 408 408 missense 0.125 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs774707387 11q24.1 11 123610209 T null A V 414 414 missense 0.034 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1953351988 11q24.1 11 123610212 T null S I 415 415 missense 0.94 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1452688501 11q24.1 11 123610218 G null E G 417 417 missense 0.673 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1953352600 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123610217 A null E K 417 417 missense 0.013 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1329911488 11q24.1 11 123610221 A null S N 418 418 missense 0.02 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1953353862 11q24.1 11 123610223 T null E * 419 419 stop gained 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1379208489 11q24.1 11 123610232 A null V M 422 422 missense 0.176 benign 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1953354879 11q24.1 11 123610235 G null I V 423 423 missense 0.012 benign 0.11 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl,dbSNP,dbSNP rs1261074275 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123610244 A null E K 426 426 missense 0.944 probably damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1191880391 11q24.1 11 123610247 A null V I 427 427 missense 0.46 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1953356923 11q24.1 11 123610254 A null T N 429 429 missense 0.928 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1592266396 11q24.1 11 123610253 C null T P 429 429 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs752871193 11q24.1 11 123610258 G null H Q 430 430 missense 0.5 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ExAC,dbSNP,dbSNP,gnomAD rs542866239 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123610259 A null D N 431 431 0.0002 missense 0.963 probably damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,dbSNP,dbSNP,gnomAD rs765331397 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123610262 A null V M 432 432 missense 0.887 possibly damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs10893053 11q24.1 11 123610273 G null H Q 435 435 missense 0.28 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1387920256 11q24.1 11 123610272 G null H R 435 435 missense 0.826 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC rs758353236 11q24.1 11 123610281 C null F S 438 438 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1325090049 11q24.1 11 123610283 G null Y D 439 439 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1230075351 11q24.1 11 123610289 G null I V 441 441 missense 0.0 benign 0.09 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs779719653 11q24.1 11 123610302 T null T M 445 445 missense 0.023 benign 0.2 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs751330868 11q24.1 11 123610304 A null L I 446 446 missense 0.253 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1318330456 11q24.1 11 123610308 T null T I 447 447 missense 0.245 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1216696944 11q24.1 11 123610310 T null R C 448 448 missense 0.997 probably damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs573181030 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123610311 A null R H 448 448 0.0002 missense 0.954 probably damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1301307776 11q24.1 11 123610317 T null A V 450 450 missense 0.121 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs780877280 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123610320 A null R Q 451 451 missense 0.195 benign 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B dbSNP,dbSNP,gnomAD rs1390495624 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123610319 T null R W 451 451 missense 0.857 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1368020418 11q24.1 11 123610325 G null K E 453 453 missense 0.874 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs755934019 11q24.1 11 123610329 C null S T 454 454 missense 0.039 benign 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs747701660 11q24.1 11 123610332 A null R Q 455 455 missense 0.892 possibly damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1592278576 11q24.1 11 123612763 G null V G 458 458 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1348079401 11q24.1 11 123612762 A null V I 458 458 missense 0.033 benign 0.21 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1565465448 11q24.1 11 123612768 T null T S 460 460 missense 0.119 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B dbSNP,dbSNP,gnomAD rs1331085646 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123612777 T null R C 463 463 missense 0.787 possibly damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs748744678 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123612778 A null R H 463 463 missense 0.73 possibly damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs748744678 11q24.1 11 123612778 T null R L 463 463 missense 0.971 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B dbSNP,dbSNP,gnomAD rs969160143 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 11q24.1 11 123612783 T null R * 465 465 missense 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs969160143 11q24.1 11 123612783 G null R G 465 465 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,dbSNP,dbSNP,gnomAD rs779442588 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123612784 A null R Q 465 465 missense 0.987 probably damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1249789698 11q24.1 11 123612790 G null Q R 467 467 missense 0.96 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs2136998418 11q24.1 11 123612793 T null P L 468 468 missense 0.974 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1272715913 11q24.1 11 123612799 A null G E 470 470 missense 0.995 probably damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,dbSNP,dbSNP,gnomAD rs1247803361 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123612811 T null T M 474 474 missense 0.757 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC rs747239385 11q24.1 11 123612819 A null E K 477 477 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs776874803 11q24.1 11 123612823 G null K R 478 478 missense 0.224 benign 0.04 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1953775416 11q24.1 11 123612847 G null D G 486 486 missense 0.487 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs761933797 11q24.1 11 123612846 A null D N 486 486 missense 0.157 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs766270069 11q24.1 11 123612851 A null Y * 487 487 stop gained 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1953776073 11q24.1 11 123612850 T null Y F 487 487 missense 0.66 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1329532401 11q24.1 11 123612849 C null Y H 487 487 missense 0.967 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs774345801 11q24.1 11 123612855 T null R C 489 489 missense 0.886 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs538509009 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123612856 A null R H 489 489 0.0004 missense 0.02 benign 0.07 tolerated - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1953777709 11q24.1 11 123612859 T null H L 490 490 missense 0.036 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs773095404 11q24.1 11 123613455 G null E G 492 492 missense 0.977 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1350417509 11q24.1 11 123613458 A null S N 493 493 missense 0.0 benign 0.07 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs759545068 11q24.1 11 123613459 A null S R 493 493 missense 0.028 benign 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs374304588 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123613460 A null E K 494 494 missense 0.42 benign 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B ESP,ExAC,TOPMed,gnomAD rs62641672 11q24.1 11 123613467 G null A G 496 496 missense 0.024 benign 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371958694 11q24.1 11 123613466 A null A T 496 496 0.000196232 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1953891134 11q24.1 11 123613470 C null K T 497 497 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs369825461 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123613473 T null T M 498 498 missense 0.015 benign 0.11 tolerated - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1953893015 11q24.1 11 123613497 A null M K 506 506 missense 0.001 benign 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs373054264 11q24.1 11 123613496 T null M L 506 506 missense 0.0 benign 0.52 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1953893015 11q24.1 11 123613497 G null M R 506 506 missense 0.005 benign 0.02 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1953893015 11q24.1 11 123613497 C null M T 506 506 missense 0.0 benign 0.2 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1247862121 11q24.1 11 123613499 A null H N 507 507 missense 0.191 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1953893932 11q24.1 11 123613501 A null H Q 507 507 missense 0.013 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs749861438 11q24.1 11 123613505 A null Q K 509 509 missense 0.003 benign 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs758997685 11q24.1 11 123613509 G null S C 510 510 missense 0.961 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1434749828 11q24.1 11 123613515 C null K T 512 512 missense 0.177 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs780686154 11q24.1 11 123613519 T null E D 513 513 missense 0.138 benign 0.02 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1190590583 11q24.1 11 123613530 G null K R 517 517 missense 0.007 benign 0.04 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1953897842 11q24.1 11 123613532 G null T A 518 518 missense 0.0 benign 0.45 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1953898177 11q24.1 11 123613533 T null T I 518 518 missense 0.0 benign 0.15 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs946321091 11q24.1 11 123613535 G null T A 519 519 missense 0.009 benign 0.12 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1202535829 11q24.1 11 123613536 T null T I 519 519 missense 0.314 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs946321091 11q24.1 11 123613535 T null T S 519 519 missense 0.009 benign 1.0 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs769863986 11q24.1 11 123613538 G null T A 520 520 missense 0.001 benign 0.16 tolerated - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199604534 11q24.1 11 123613539 T null T M 520 520 missense 0.611 possibly damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs2137011660 11q24.1 11 123613541 T null V L 521 521 missense 0.013 benign 0.11 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs368784935 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123613545 A null R Q 522 522 missense 0.9 possibly damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,dbSNP,dbSNP,gnomAD rs772035485 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123613544 T null R W 522 522 missense 0.974 probably damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1314374755 11q24.1 11 123613548 A null R K 523 523 missense 0.63 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1314374755 11q24.1 11 123613548 T null R M 523 523 missense 0.949 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,dbSNP,dbSNP,gnomAD rs1357437283 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123613556 T null R C 526 526 missense 0.961 probably damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs768451724 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123613557 A null R H 526 526 missense 0.949 probably damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs768451724 11q24.1 11 123613557 C null R P 526 526 missense 0.881 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs894915963 11q24.1 11 123613563 C null H P 528 528 missense 0.789 possibly damaging 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs894915963 11q24.1 11 123613563 G null H R 528 528 missense 0.017 benign 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs776221454 11q24.1 11 123613565 A null A T 529 529 missense 0.007 benign 0.24 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs749999499 11q24.1 11 123613569 T null H L 530 530 missense 0.468 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs764749144 11q24.1 11 123613568 T null H Y 530 530 missense 0.924 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs762523319 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123613575 A null R Q 532 532 missense 0.846 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs2137012445 11q24.1 11 123613581 G null P R 534 534 missense 0.365 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1953905885 11q24.1 11 123613580 T null P S 534 534 missense 0.062 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1257670898 11q24.1 11 123613583 A null H N 535 535 missense 0.513 possibly damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1953906499 11q24.1 11 123613584 G null H R 535 535 missense 0.617 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1179975438 11q24.1 11 123613586 G null L V 536 536 missense 0.212 benign 0.02 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs755488531 11q24.1 11 123613595 T null V L 539 539 missense 0.023 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs755488531 11q24.1 11 123613595 A null V M 539 539 missense 0.611 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1399794477 11q24.1 11 123613599 G null M R 540 540 missense 0.007 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1160090336 11q24.1 11 123613598 G null M V 540 540 missense 0.007 benign 0.05 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ESP,TOPMed rs373889123 11q24.1 11 123613601 G null S G 541 541 missense 0.63 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1414178795 11q24.1 11 123613605 T null P L 542 542 missense 0.655 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1414178795 11q24.1 11 123613605 G null P R 542 542 missense 0.892 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ExAC,gnomAD rs557839467 11q24.1 11 123613607 T null V F 543 543 0.000196232 missense 0.892 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ExAC,gnomAD rs557839467 11q24.1 11 123613607 C null V L 543 543 0.000196232 missense 0.468 possibly damaging 0.02 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1452676344 11q24.1 11 123613610 G null T A 544 544 missense 0.721 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1953912063 11q24.1 11 123613613 G null T A 545 545 missense 0.018 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs757313912 11q24.1 11 123613614 A null T K 545 545 missense 0.383 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs757313912 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123613614 T null T M 545 545 missense 0.92 probably damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1953913725 11q24.1 11 123613619 G null T A 547 547 missense 0.011 benign 0.02 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs912435884 11q24.1 11 123613622 A null D N 548 548 missense 0.343 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs912435884 11q24.1 11 123613622 T null D Y 548 548 missense 0.647 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs778905988 11q24.1 11 123613630 A null D E 550 550 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1484430156 11q24.1 11 123613628 C null D H 550 550 missense 0.493 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1484430156 11q24.1 11 123613628 T null D Y 550 550 missense 0.488 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ExAC,TOPMed,gnomAD rs575823580 11q24.1 11 123613632 A null V E 551 551 0.000196232 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1280558584 11q24.1 11 123613635 A null G D 552 552 missense 0.006 benign 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1199568658 11q24.1 11 123613634 A null G S 552 552 missense 0.009 benign 0.1 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1953915780 11q24.1 11 123613643 T null I F 555 555 missense 0.281 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ESP,ExAC,TOPMed,gnomAD rs373969484 11q24.1 11 123613651 G null H Q 557 557 missense 0.005 benign 0.03 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1202425504 11q24.1 11 123613652 A null V M 558 558 missense 0.47 possibly damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B ESP,ExAC,TOPMed,gnomAD rs377530501 11q24.1 11 123614745 T null G V 560 560 missense 0.003 benign 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1954115805 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123614757 T null T M 564 564 missense 0.027 benign 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs2137035101 11q24.1 11 123614756 C null T P 564 564 missense 0.168 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs773086921 11q24.1 11 123614760 A null R Q 565 565 missense 0.005 benign 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs769465102 11q24.1 11 123614759 T null R W 565 565 missense 0.659 possibly damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs748956557 11q24.1 11 123614764 G null H Q 566 566 missense 0.003 benign 0.03 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ESP,ExAC,TOPMed,gnomAD rs370988688 11q24.1 11 123614769 T null P L 568 568 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1214237041 11q24.1 11 123614773 C null E D 569 569 missense 0.0 benign 0.06 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ESP,ExAC,TOPMed,gnomAD rs200711609 11q24.1 11 123614771 A null E K 569 569 missense 0.01 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ESP,ExAC,TOPMed,gnomAD rs200711609 11q24.1 11 123614771 C null E Q 569 569 missense 0.024 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1565470137 11q24.1 11 123614775 G null D G 570 570 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ESP,ExAC,TOPMed,gnomAD rs375570291 11q24.1 11 123614774 A null D N 570 570 missense 0.015 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ESP,ExAC,TOPMed,gnomAD rs375570291 11q24.1 11 123614774 T null D Y 570 570 missense 0.035 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1798320980 11q24.1 11 123614777 G null T A 571 571 missense 0.0 benign 0.14 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs761185461 11q24.1 11 123614778 T null T I 571 571 missense 0.024 benign 0.12 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs761185461 11q24.1 11 123614778 A null T N 571 571 missense 0.0 benign 0.13 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1592288801 11q24.1 11 123614780 G null P A 572 572 missense 0.021 benign 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs754161430 11q24.1 11 123614781 T null P L 572 572 missense 0.056 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs754161430 11q24.1 11 123614781 G null P R 572 572 missense 0.227 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1592288801 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123614780 T null P S 572 572 missense 0.001 benign 0.11 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs757493522 11q24.1 11 123614783 G null N D 573 573 missense 0.015 benign 0.07 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ExAC,TOPMed,gnomAD rs534553453 11q24.1 11 123614786 T null G C 574 574 0.00274725 missense 0.015 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ExAC,TOPMed,gnomAD rs534553453 11q24.1 11 123614786 C null G R 574 574 0.00274725 missense 0.031 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ExAC,TOPMed,gnomAD rs534553453 11q24.1 11 123614786 A null G S 574 574 0.00274725 missense 0.012 benign 0.04 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs781251456 11q24.1 11 123614792 T null H Y 576 576 missense 0.127 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ESP,ExAC,TOPMed,gnomAD rs201812830 11q24.1 11 123614799 G null Q R 578 578 missense 0.024 benign 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1954123025 11q24.1 11 123614802 A null S N 579 579 missense 0.003 benign 0.03 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374118769 11q24.1 11 123614803 G null S R 579 579 missense 0.111 benign 0.02 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs770363124 11q24.1 11 123614804 A null V M 580 580 missense 0.226 benign 0.02 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1954124078 11q24.1 11 123614807 C null S P 581 581 missense 0.094 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1954124361 11q24.1 11 123614811 G null K R 582 582 missense 0.01 benign 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1163327613 11q24.1 11 123614817 C null L P 584 584 missense 0.722 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1310036362 11q24.1 11 123614825 G null I V 587 587 missense 0.014 benign 0.03 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1954126341 11q24.1 11 123614829 C null S T 588 588 missense 0.624 possibly damaging 0.02 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs778697361 11q24.1 11 123614831 A null C S 589 589 missense 0.003 benign 0.18 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs745453238 11q24.1 11 123614834 A null V I 590 590 missense 0.038 benign 0.02 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1443449023 11q24.1 11 123618697 C null V L 592 592 missense 0.226 benign 0.02 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1443449023 11q24.1 11 123618697 A null V M 592 592 missense 0.966 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375428225 11q24.1 11 123618706 T null V F 595 595 missense 0.987 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375428225 11q24.1 11 123618706 A null V I 595 595 missense 0.561 possibly damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs746558109 11q24.1 11 123618711 G null I M 596 596 missense 0.039 benign 0.05 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1213612735 11q24.1 11 123618717 A null N K 598 598 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs780611834 11q24.1 11 123618718 G null M V 599 599 missense 0.001 benign 0.17 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1311437280 11q24.1 11 123618723 A null M I 600 600 missense 0.09 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1006465006 11q24.1 11 123618730 C null Y H 603 603 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs770234763 11q24.1 11 123618734 G null K R 604 604 missense 0.431 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1291145842 11q24.1 11 123618736 T null L F 605 605 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs773476425 11q24.1 11 123618744 A null M I 607 607 missense 0.039 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1186594571 11q24.1 11 123618742 G null M V 607 607 missense 0.001 benign 0.03 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1592310591 11q24.1 11 123618754 G null T A 611 611 0.000196232 missense 0.038 benign 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs775623707 11q24.1 11 123618755 T null T I 611 611 missense 0.145 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs775623707 11q24.1 11 123618755 A null T N 611 611 missense 0.492 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,dbSNP,dbSNP,gnomAD rs775623707 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123618755 G null T S 611 611 missense 0.021 benign 0.19 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs549560391 11q24.1 11 123618758 T null T M 612 612 missense 0.92 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs760937431 11q24.1 11 123618760 T null Q * 613 613 stop gained 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1395001592 11q24.1 11 123618762 T null Q H 613 613 missense 0.03 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1462850443 11q24.1 11 123618764 G null T S 614 614 missense 0.031 benign 0.29 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1954769859 11q24.1 11 123618766 T null L F 615 615 missense 0.137 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1326089661 11q24.1 11 123618769 G null T A 616 616 missense 0.021 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1431670868 11q24.1 11 123618777 A null W * 618 618 missense 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs2137116243 11q24.1 11 123618775 C null W R 618 618 missense 0.712 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B dbSNP,dbSNP,gnomAD rs1377048609 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123618782 A null G D 620 620 missense 0.742 possibly damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1272069804 11q24.1 11 123618781 A null G S 620 620 missense 0.161 benign 0.03 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1478030113 11q24.1 11 123618788 A null R K 622 622 missense 0.781 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs947730358 11q24.1 11 123618789 C null R S 622 622 missense 0.244 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,TOPMed,gnomAD rs752169349 11q24.1 11 123618795 C null Q H 624 624 missense 0.003 benign 0.2 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs774631746 11q24.1 11 123618799 G null R G 626 626 missense 0.277 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs774631746 11q24.1 11 123618799 T null R W 626 626 missense 0.943 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs766011731 11q24.1 11 123619111 T null P S 628 628 missense 0.998 probably damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1954813410 11q24.1 11 123619114 A null Q K 629 629 missense 0.226 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1377336512 11q24.1 11 123619122 T null Q H 631 631 missense 0.949 probably damaging 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1408586274 11q24.1 11 123619124 A null T K 632 632 missense 0.027 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs2137122743 11q24.1 11 123619127 G null E G 633 633 missense 0.964 probably damaging 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1328730446 11q24.1 11 123619131 A null W * 634 634 stop gained 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1336833794 11q24.1 11 123619132 A null A T 635 635 missense 0.119 benign 0.08 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs867595369 11q24.1 11 123619135 A null Q K 636 636 missense 0.654 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1954815523 11q24.1 11 123619138 T null L F 637 637 missense 0.975 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148264959 11q24.1 11 123619148 T null S F 640 640 0.000588697 missense 0.531 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs747612717 11q24.1 11 123619154 T null Q L 642 642 missense 0.702 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs747612717 11q24.1 11 123619154 G null Q R 642 642 missense 0.113 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1193530640 11q24.1 11 123619160 G null Y C 644 644 missense 0.761 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1565477915 11q24.1 11 123619162 A null H N 645 645 missense 0.987 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ESP,ExAC,TOPMed,gnomAD rs370259530 11q24.1 11 123619165 A null D N 646 646 missense 0.017 benign 0.02 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1954819295 11q24.1 11 123619175 C null L P 649 649 missense 0.898 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs749686386 11q24.1 11 123619179 C null Q H 650 650 missense 0.021 benign 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1954819572 11q24.1 11 123619178 G null Q R 650 650 missense 0.037 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1954820836 11q24.1 11 123619202 T null S F 658 658 missense 0.988 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1565478028 11q24.1 11 123619205 T null S L 659 659 missense 0.739 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs969001195 11q24.1 11 123619211 A null M K 661 661 missense 0.023 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs969001195 11q24.1 11 123619211 C null M T 661 661 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1954822426 11q24.1 11 123619220 C null D A 664 664 missense 0.978 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs2137124175 11q24.1 11 123619219 A null D N 664 664 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1365651947 11q24.1 11 123622508 A null M I 666 666 missense 0.14 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1452238751 11q24.1 11 123622506 G null M V 666 666 missense 0.012 benign 0.05 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs981266512 11q24.1 11 123622510 G null K R 667 667 missense 0.068 benign 0.14 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1451461778 11q24.1 11 123622513 G null D G 668 668 missense 0.546 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ExAC,TOPMed,gnomAD rs538908520 11q24.1 11 123622516 A null S * 669 669 0.000196232 stop gained 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ExAC,TOPMed,gnomAD rs538908520 11q24.1 11 123622516 T null S L 669 669 0.000196232 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1955253220 11q24.1 11 123622518 T null L F 670 670 missense 0.998 probably damaging 0.0 deleterious - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs780652358 11q24.1 11 123622521 G null I V 671 671 missense 0.0 benign 0.16 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1160222847 11q24.1 11 123622525 T null N I 672 672 missense 0.291 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1382909997 11q24.1 11 123622526 A null N K 672 672 missense 0.009 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes rs4083122 11q24.1 11 123622527 T null L F 673 673 missense 0.998 probably damaging 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs866062141 11q24.1 11 123622530 A null Q K 674 674 missense 0.811 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs1162502089 11q24.1 11 123622531 G null Q R 674 674 missense 0.503 possibly damaging 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs772471280 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123622537 A null G D 676 676 missense 0.886 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1179974608 11q24.1 11 123622536 A null G S 676 676 missense 0.32 benign 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1374311060 11q24.1 11 123622541 G null I M 677 677 missense 0.812 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs1955257565 11q24.1 11 123622544 T null R S 678 678 missense 0.04 benign 0.08 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1415377499 11q24.1 11 123622546 T null S F 679 679 missense 0.486 possibly damaging 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs780409933 11q24.1 11 123622548 T null R C 680 680 missense 0.961 probably damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,gnomAD rs780409933 11q24.1 11 123622548 G null R G 680 680 missense 0.63 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,TOPMed,gnomAD rs747151599 11q24.1 11 123622549 A null R H 680 680 missense 0.949 probably damaging 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1955259490 11q24.1 11 123622553 G null D E 681 681 missense 0.105 benign 0.06 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368223750 11q24.1 11 123622558 A null T K 683 683 missense 0.051 benign 0.05 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368223750 11q24.1 11 123622558 T null T M 683 683 missense 0.357 benign 0.03 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368223750 11q24.1 11 123622558 G null T R 683 683 missense 0.103 benign 0.12 tolerated - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B ESP,ExAC,TOPMed,gnomAD rs370949646 11q24.1 11 123622561 T null S L 684 684 missense 0.166 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ESP,ExAC,TOPMed,gnomAD rs370949646 11q24.1 11 123622561 G null S W 684 684 missense 0.849 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs2137177631 11q24.1 11 123622563 A null E K 685 685 missense 0.331 benign 0.04 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs1026118502 11q24.1 11 123622566 G null S G 686 686 missense 0.076 benign 0.02 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs986113458 11q24.1 11 123622567 A null S N 686 686 missense 0.148 benign 0.04 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs911438812 11q24.1 11 123622568 A null S R 686 686 missense 0.006 benign 0.08 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed rs986113458 11q24.1 11 123622567 C null S T 686 686 missense 0.003 benign 0.32 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B ExAC,dbSNP,dbSNP,gnomAD rs774167637 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123622569 A null E K 687 687 missense 0.179 benign 0.01 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1480557545 11q24.1 11 123622579 T null R M 690 690 missense 0.559 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs545662974 11q24.1 11 123622582 G null N S 691 691 missense 0.0 benign 0.58 tolerated - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1253101591 11q24.1 11 123622584 T null R C 692 692 missense 0.793 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,dbSNP,dbSNP,gnomAD rs901617580 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123622585 A null R H 692 692 missense 0.01 benign 0.06 tolerated - low confidence 1 A0A024R3M2 GRAMD1B GRAM domain containing 1B TOPMed,gnomAD rs901617580 11q24.1 11 123622585 T null R L 692 692 missense 0.359 benign 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B Ensembl rs951873344 11q24.1 11 123622588 G null Y C 693 693 missense 0.611 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B GRAM domain containing 1B gnomAD rs1434836714 11q24.1 11 123622595 C null * C 695 695 stop lost 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2094921066 2q34 2 209653181 T null E V 4 4 missense 0.42 benign 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs148723167 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209653184 A null R Q 5 5 0.0002 missense 0.098 benign 0.02 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs138782038 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209653183 T null R W 5 5 missense 0.959 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,gnomAD rs201525773 2q34 2 209653189 C null D H 7 7 0.000196232 missense 0.995 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,gnomAD rs201525773 2q34 2 209653189 A null D N 7 7 0.000196232 missense 0.964 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs748319171 2q34 2 209653192 A null E K 8 8 missense 0.558 possibly damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs772162978 2q34 2 209653195 A null A T 9 9 missense 0.565 possibly damaging 0.11 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs2094921912 2q34 2 209653201 A null A T 11 11 missense 0.989 probably damaging 0.11 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1171026228 2q34 2 209653205 T null P L 12 12 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2094922096 2q34 2 209653210 C null W R 14 14 missense 0.882 possibly damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1295775456 2q34 2 209653219 A null A T 17 17 missense 0.019 benign 0.13 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs145598155 2q34 2 209653223 T null P L 18 18 missense 0.015 benign 0.01 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1280225286 2q34 2 209653228 G null T A 20 20 missense 0.003 benign 0.15 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1328362135 2q34 2 209653235 T null A V 22 22 missense 0.982 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1438195861 2q34 2 209653237 A null S T 23 23 missense 0.162 benign 0.05 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1211612973 2q34 2 209653241 A null A E 24 24 missense 0.663 possibly damaging 0.01 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1211612973 2q34 2 209653241 G null A G 24 24 missense 0.394 benign 0.12 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs751016353 2q34 2 209653240 T null A S 24 24 missense 0.048 benign 1.0 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs751016353 2q34 2 209653240 A null A T 24 24 missense 0.498 possibly damaging 0.05 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs951276408 2q34 2 209653244 T null H L 25 25 missense 0.03 benign 0.1 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs756836566 2q34 2 209653246 A null S T 26 26 missense 0.14 benign 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs2094924206 2q34 2 209653249 A null H N 27 27 missense 0.544 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs766970918 2q34 2 209653250 C null H P 27 27 missense 0.887 possibly damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs766970918 2q34 2 209653250 G null H R 27 27 missense 0.54 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1259044512 2q34 2 209653252 T null P S 28 28 missense 0.007 benign 1.0 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2094924761 2q34 2 209653261 T null I F 31 31 missense 0.213 benign 0.15 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1350309475 2q34 2 209653265 C null K T 32 32 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs755781075 2q34 2 209653272 T null Q H 34 34 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs749722277 2q34 2 209653276 C null G R 36 36 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1167386491 2q34 2 209653279 A null A T 37 37 missense 0.253 benign 0.17 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1369482394 2q34 2 209653280 T null A V 37 37 missense 0.714 possibly damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs188840497 2q34 2 209653283 A null G E 38 38 missense 1.0 probably damaging 0.19 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1013060670 2q34 2 209653285 A null E K 39 39 missense 0.162 benign 0.11 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1013060670 2q34 2 209653285 C null E Q 39 39 missense 0.025 benign 0.1 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs772151141 2q34 2 209653295 C null V A 42 42 missense 0.453 possibly damaging 0.09 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2094925871 2q34 2 209653294 C null V L 42 42 missense 0.54 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs2094926130 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 2q34 2 209653297 T null R * 43 43 missense 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1231157687 2q34 2 209653298 A null R Q 43 43 missense 0.997 probably damaging 0.05 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2094926538 2q34 2 209653304 A null A D 45 45 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs181207847 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209653303 A null A T 45 45 0.0008 missense 0.994 probably damaging 0.04 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs2094926608 2q34 2 209653306 G null N D 46 46 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs2094926608 2q34 2 209653306 T null N Y 46 46 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs771280922 2q34 2 209653309 A null G R 47 47 missense 1.0 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1292843893 2q34 2 209653313 A null F Y 48 48 missense 0.994 probably damaging 0.39 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs774107287 2q34 2 209653316 G null P R 49 49 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs762895577 2q34 2 209653315 T null P S 49 49 missense 0.999 probably damaging 0.26 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1216729279 2q34 2 209653319 G null Y C 50 50 missense 0.94 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs765680871 2q34 2 209653323 C null R S 51 51 missense 0.106 benign 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2094927263 2q34 2 209653322 C null R T 51 51 missense 0.64 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs987759107 2q34 2 209653326 C null E D 52 52 missense 0.996 probably damaging 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2094927425 2q34 2 209653324 C null E Q 52 52 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2094927706 2q34 2 209653329 G null D E 53 53 missense 0.003 benign 0.37 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,gnomAD rs535438273 2q34 2 209653328 G null D G 53 53 0.000392465 missense 0.006 benign 0.22 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,gnomAD rs535438273 2q34 2 209653328 T null D V 53 53 0.000392465 missense 0.122 benign 0.11 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs766998699 2q34 2 209653331 C null E A 54 54 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153611121 2q34 2 209653332 T null E D 54 54 missense 0.996 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs766998699 2q34 2 209653331 G null E G 54 54 missense 0.999 probably damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs761682816 2q34 2 209653330 A null E K 54 54 missense 0.997 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs139310749 2q34 2 209653333 A null E K 55 55 missense 0.922 probably damaging 0.03 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs755761083 2q34 2 209653336 T null G C 56 56 missense 0.858 possibly damaging 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1228108826 2q34 2 209653337 A null G D 56 56 missense 0.568 possibly damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1219436734 2q34 2 209653340 G null A G 57 57 missense 0.006 benign 0.76 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2094928593 2q34 2 209653346 A null G E 59 59 missense 0.899 possibly damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs766080778 2q34 2 209653345 A null G R 59 59 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs370545736 2q34 2 209653352 T null H L 61 61 missense 0.615 possibly damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs370545736 2q34 2 209653352 G null H R 61 61 missense 0.024 benign 0.32 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs755377024 2q34 2 209653354 A null G R 62 62 missense 0.047 benign 0.26 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs138654038 2q34 2 209653364 A null G D 65 65 missense 0.014 benign 0.14 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs937445538 2q34 2 209653363 A null G S 65 65 missense 0.015 benign 0.23 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs758842077 2q34 2 209653367 T null T I 66 66 missense 0.01 benign 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs767092603 2q34 2 209653370 G null Y C 67 67 missense 0.336 benign 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2094929628 2q34 2 209653373 A null S * 68 68 stop gained 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1170950303 2q34 2 209653376 G null N S 69 69 missense 0.049 benign 0.67 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs898572546 2q34 2 209653379 A null T N 70 70 missense 0.4 benign 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs898572546 2q34 2 209653379 G null T S 70 70 missense 0.043 benign 0.11 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs781610019 2q34 2 209653382 C null K T 71 71 missense 0.982 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1559489365 2q34 2 209653388 G null N S 73 73 missense 0.65 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2094930292 2q34 2 209653390 A null G R 74 74 missense 0.267 benign 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1279006107 2q34 2 209653405 A null L M 79 79 missense 0.913 probably damaging 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1279006107 2q34 2 209653405 G null L V 79 79 missense 0.679 possibly damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs2271251 2q34 2 209653415 G null A G 82 82 0.00156986 missense 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2094931120 2q34 2 209653418 T null D V 83 83 missense 0.953 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2094931310 2q34 2 209653426 G null T A 86 86 missense 0.709 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2053057178 2q34 2 209678577 A null V M 90 90 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2053058783 2q34 2 209678586 G null R G 93 93 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1465981529 2q34 2 209678593 C null V A 95 95 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2053060560 2q34 2 209678595 G null Q E 96 96 missense 0.986 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs763273074 2q34 2 209678599 A null V E 97 97 missense 0.998 probably damaging 0.65 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1466992263 2q34 2 209678601 C null V L 98 98 missense 0.99 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1272415524 2q34 2 209678605 T null T I 99 99 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs764626887 2q34 2 209678607 A null A T 100 100 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1219185351 2q34 2 209678612 T null E D 101 101 missense 0.9 possibly damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs2053067146 2q34 2 209678620 A null A E 104 104 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs752068046 2q34 2 209678631 T null G C 108 108 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs752068046 2q34 2 209678631 A null G S 108 108 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138065981 2q34 2 209678637 A null Q K 110 110 0.000588697 missense 0.99 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,gnomAD rs542175593 2q34 2 209678641 C null E A 111 111 0.000196232 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2053072927 2q34 2 209678642 C null E D 111 111 missense 0.996 probably damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs994294877 2q34 2 209678647 C null E A 113 113 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1226867420 2q34 2 209678646 A null E K 113 113 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1026538860 2q34 2 209678650 T null A V 114 114 missense 0.058 benign 0.08 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1583206247 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209678656 G null H R 116 116 missense 0.213 benign 0.02 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs780190767 2q34 2 209678655 T null H Y 116 116 missense 0.006 benign 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1559539721 2q34 2 209678658 G null K E 117 117 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2053080684 2q34 2 209678663 G null D E 118 118 missense 0.996 probably damaging 0.16 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1222327902 2q34 2 209678661 A null D N 118 118 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs370307941 2q34 2 209678667 G null T A 120 120 missense 0.033 benign 0.1 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1484973858 2q34 2 209678668 T null T I 120 120 missense 0.199 benign 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1484973858 2q34 2 209678668 A null T N 120 120 missense 0.255 benign 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs147456890 2q34 2 209678670 T null A S 121 121 missense 0.162 benign 0.1 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1439109841 2q34 2 209678671 T null A V 121 121 missense 0.228 benign 0.09 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs777568215 2q34 2 209678673 C null A P 122 122 missense 0.014 benign 0.55 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs746890780 2q34 2 209678677 C null L P 123 123 missense 1.0 probably damaging 0.01 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs746890780 2q34 2 209678677 G null L R 123 123 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs770860190 2q34 2 209678683 C null L S 125 125 missense 0.92 probably damaging 0.1 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2054227761 2q34 2 209680753 T null A V 127 127 missense 0.048 benign 1.0 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1583264125 2q34 2 209680762 T null T I 130 130 missense 0.86 possibly damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1331871390 2q34 2 209680764 C null A P 131 131 missense 0.92 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1449780561 2q34 2 209680767 C null N H 132 132 missense 0.085 benign 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs2054230964 2q34 2 209680771 A null L Q 133 133 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153688896 2q34 2 209680774 T null P L 134 134 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,dbSNP,dbSNP rs939642131 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209680773 T null P S 134 134 missense 0.999 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1449280506 2q34 2 209680777 T null P L 135 135 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1553652638 2q34 2 209680776 T null P S 135 135 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1464359559 2q34 2 209680785 T null P S 138 138 missense 0.999 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs757171238 2q34 2 209680788 G null P A 139 139 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs917768168 2q34 2 209680789 T null P L 139 139 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs917768168 2q34 2 209680789 G null P R 139 139 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs757171238 2q34 2 209680788 A null P T 139 139 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2054238739 2q34 2 209680798 A null A D 142 142 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2054238739 2q34 2 209680798 T null A V 142 142 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2054240365 2q34 2 209680801 T null S L 143 143 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs769142027 2q34 2 209680816 T null T I 148 148 missense 0.113 benign 0.11 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1279951394 2q34 2 209692625 C null D A 152 152 missense 0.111 benign 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1188031681 2q34 2 209680827 A null D N 152 152 missense 0.212 benign 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1279951394 2q34 2 209692625 T null D V 152 152 missense 0.539 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs778385851 2q34 2 209692628 C null L S 153 153 missense 0.794 possibly damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1352525164 2q34 2 209692631 C null L P 154 154 missense 0.811 possibly damaging 0.01 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs374954491 2q34 2 209692634 T null T I 155 155 missense 0.379 benign 0.01 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs374954491 2q34 2 209692634 G null T R 155 155 missense 0.458 possibly damaging 0.01 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1454329000 2q34 2 209692637 T null A V 156 156 missense 0.982 probably damaging 0.0 deleterious - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein dbSNP,dbSNP,gnomAD rs1439637960 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209692640 T null S L 157 157 missense 0.003 benign 0.05 deleterious - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs2059246797 2q34 2 209692639 C null S P 157 157 missense 0.003 benign 0.04 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059248396 2q34 2 209692645 T null M L 159 159 missense 0.307 benign 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1559569870 2q34 2 209692646 C null M T 159 159 missense 0.965 probably damaging 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs6720659 2q34 2 209692656 A null H Q 162 162 missense 0.171 benign 0.32 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC rs755995646 2q34 2 209692654 T null H Y 162 162 missense 0.357 benign 0.04 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,dbSNP,dbSNP,gnomAD rs1056902676 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209692657 A null D N 163 163 missense 0.027 benign 0.13 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1056902676 2q34 2 209692657 T null D Y 163 163 missense 0.088 benign 0.04 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1559570078 2q34 2 209692668 C null E D 166 166 missense 0.083 benign 0.36 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs754498427 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209692666 C null E Q 166 166 missense 0.015 benign 0.13 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148774557 2q34 2 209692671 C null L F 167 167 0.000784929 missense 0.007 benign 0.13 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs374208822 2q34 2 209692672 T null T S 168 168 missense 0.005 benign 0.85 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs771855473 2q34 2 209692676 T null P L 169 169 missense 0.011 benign 0.1 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1406614648 2q34 2 209692675 A null P T 169 169 missense 0.011 benign 0.07 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059256947 2q34 2 209692681 G null T A 171 171 missense 0.0 benign 0.86 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs377700467 2q34 2 209692682 T null T I 171 171 missense 0.003 benign 0.02 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs377700467 2q34 2 209692682 A null T K 171 171 missense 0.007 benign 0.04 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs747464633 2q34 2 209692685 A null A D 172 172 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1378451657 2q34 2 209692684 A null A T 172 172 missense 0.0 benign 0.16 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059260637 2q34 2 209692688 G null E G 173 173 missense 0.61 possibly damaging 0.04 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1037342276 2q34 2 209692687 A null E K 173 173 missense 0.071 benign 0.03 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs553702819 2q34 2 209692690 G null P A 174 174 missense 0.982 probably damaging 0.12 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs553702819 2q34 2 209692690 T null P S 174 174 missense 0.955 probably damaging 0.01 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,gnomAD rs375849922 2q34 2 209692696 C null D H 176 176 0.00470958 missense 0.631 possibly damaging 0.04 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs375849922 2q34 2 209692696 A null D N 176 176 0.00470958 missense 0.213 benign 0.01 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs776797831 2q34 2 209692700 G null Q R 177 177 missense 0.003 benign 0.04 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1408151010 2q34 2 209692703 G null K R 178 178 missense 0.12 benign 0.0 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1408151010 2q34 2 209692703 C null K T 178 178 missense 0.163 benign 0.0 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed rs763091857 2q34 2 209692707 C null E D 179 179 missense 0.003 benign 0.04 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs6749066 2q34 2 209692706 G null E G 179 179 0.0123626 missense 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059268009 2q34 2 209692715 T null S L 182 182 missense 0.003 benign 0.03 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs772865067 2q34 2 209692718 G null E G 183 183 missense 0.0 benign 0.25 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs890242730 2q34 2 209692720 G null K E 184 184 missense 0.038 benign 0.05 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1009033255 2q34 2 209692722 C null K N 184 184 missense 0.001 benign 0.02 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs766121095 2q34 2 209692725 C null Q H 185 185 missense 0.185 benign 0.02 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1283361483 2q34 2 209692723 A null Q K 185 185 missense 0.003 benign 0.03 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs753781261 2q34 2 209692727 A null S N 186 186 missense 0.555 possibly damaging 0.04 deleterious - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1464955942 2q34 2 209692732 A null P T 188 188 missense 0.052 benign 1.0 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059276221 2q34 2 209692744 A null L I 192 192 missense 0.038 benign 0.32 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1328122214 2q34 2 209692749 T null K N 193 193 missense 0.082 benign 0.0 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs758109904 2q34 2 209692751 G null H R 194 194 missense 0.089 benign 0.0 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059278850 2q34 2 209692754 A null A D 195 195 missense 0.01 benign 1.0 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059278173 2q34 2 209692753 T null A S 195 195 missense 0.07 benign 0.14 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153715357 2q34 2 209692762 A null V I 198 198 missense 0.698 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs747302530 2q34 2 209692768 G null Q E 200 200 missense 0.003 benign 0.02 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs757600166 2q34 2 209692770 C null Q H 200 200 missense 0.455 possibly damaging 0.06 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1017786405 2q34 2 209692772 T null P L 201 201 missense 0.003 benign 0.03 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1220594517 2q34 2 209692771 A null P T 201 201 missense 0.012 benign 0.04 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1317627213 2q34 2 209692774 C null E Q 202 202 missense 0.159 benign 0.26 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1399415332 2q34 2 209692777 G null T A 203 203 missense 0.001 benign 0.24 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs770286139 2q34 2 209692780 G null T A 204 204 missense 0.014 benign 0.19 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1366274732 2q34 2 209692781 T null T I 204 204 missense 0.138 benign 0.02 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs770286139 2q34 2 209692780 T null T S 204 204 missense 0.0 benign 0.06 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,dbSNP,dbSNP,gnomAD rs1458614770 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209692787 T null T I 206 206 missense 0.009 benign 0.1 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1020032818 2q34 2 209692790 G null Y C 207 207 missense 0.255 benign 0.18 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1020032818 2q34 2 209692790 T null Y F 207 207 missense 0.0 benign 0.71 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059288824 2q34 2 209692792 G null P A 208 208 missense 0.003 benign 0.54 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,dbSNP,dbSNP,gnomAD rs1325438733 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209692795 A null D N 209 209 missense 0.173 benign 0.0 deleterious - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1221551965 2q34 2 209692798 G null K E 210 210 missense 0.0 benign 0.07 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1191973977 2q34 2 209692805 G null D G 212 212 missense 0.003 benign 0.02 deleterious - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs775537247 2q34 2 209692804 C null D H 212 212 missense 0.498 possibly damaging 0.03 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs775537247 2q34 2 209692804 T null D Y 212 212 missense 0.67 possibly damaging 0.01 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs2059294657 2q34 2 209692809 T null M I 213 213 missense 0.0 benign 0.32 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs868845748 2q34 2 209692808 C null M T 213 213 missense 0.0 benign 0.67 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs975704619 2q34 2 209692807 G null M V 213 213 missense 0.0 benign 0.46 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1423213459 2q34 2 209692810 G null Q E 214 214 missense 0.089 benign 0.26 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059296611 2q34 2 209692812 T null Q H 214 214 missense 0.007 benign 0.04 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs749422171 2q34 2 209692811 G null Q R 214 214 missense 0.001 benign 0.08 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,dbSNP,dbSNP,gnomAD rs768731263 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209692814 A null G D 215 215 missense 0.009 benign 0.77 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein dbSNP,dbSNP,gnomAD rs1369143450 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209692817 T null T M 216 216 missense 0.006 benign 0.06 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs761964869 2q34 2 209692823 G null E G 218 218 missense 0.0 benign 0.35 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059299841 2q34 2 209692822 A null E K 218 218 missense 0.001 benign 0.99 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1275531535 2q34 2 209692831 A null A T 221 221 missense 0.056 benign 0.48 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs766139946 2q34 2 209692834 A null P T 222 222 missense 0.234 benign 0.02 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,dbSNP,dbSNP,gnomAD rs1022571526 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209692838 C null L P 223 223 missense 0.0 benign 1.0 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1022571526 2q34 2 209692838 G null L R 223 223 missense 0.025 benign 0.08 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs144699107 2q34 2 209692841 G null A G 224 224 missense 0.038 benign 0.07 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs2059303237 2q34 2 209692840 C null A P 224 224 missense 0.138 benign 0.58 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs144699107 2q34 2 209692841 T null A V 224 224 missense 0.001 benign 0.3 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs928006492 2q34 2 209692845 C null L F 225 225 missense 0.67 possibly damaging 0.43 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs757965958 2q34 2 209692856 G null T S 229 229 missense 0.083 benign 0.26 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1340582445 2q34 2 209692859 C null L P 230 230 missense 0.45 possibly damaging 0.02 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs775421645 2q34 2 209692864 C null A P 232 232 missense 0.458 possibly damaging 0.02 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs2059308468 2q34 2 209692871 A null L Q 234 234 missense 0.579 possibly damaging 0.02 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059309003 2q34 2 209692876 C null D H 236 236 missense 0.077 benign 0.0 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs2059309567 2q34 2 209692879 G null M V 237 237 missense 0.003 benign 0.65 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1323531015 2q34 2 209692886 G null Q R 239 239 missense 0.001 benign 0.02 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059312333 2q34 2 209692892 T null T I 241 241 missense 0.009 benign 0.2 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs756870042 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209692898 A null P Q 243 243 missense 0.943 probably damaging 0.04 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,TOPMed,gnomAD rs549256225 2q34 2 209692901 A null S N 244 244 0.000196232 missense 0.297 benign 0.05 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs763131046 2q34 2 209692904 G null L R 245 245 missense 0.397 benign 0.06 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs2059314971 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209692903 G null L V 245 245 missense 0.054 benign 0.07 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs373380585 2q34 2 209692907 C null V A 246 246 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs756595082 2q34 2 209692909 A null V I 247 247 missense 0.003 benign 0.2 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1403222133 2q34 2 209692913 A null P H 248 248 missense 0.732 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs749829767 2q34 2 209692912 T null P S 248 248 missense 0.014 benign 0.02 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs749829767 2q34 2 209692912 A null P T 248 248 missense 0.129 benign 0.07 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059320227 2q34 2 209692915 A null G S 249 249 missense 0.003 benign 0.37 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs374108590 2q34 2 209692919 C null I T 250 250 missense 0.236 benign 0.11 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1583611181 2q34 2 209692918 G null I V 250 250 missense 0.011 benign 0.31 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1453030704 2q34 2 209692923 A null D E 251 251 missense 0.005 benign 0.4 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1417473870 2q34 2 209692924 T null L F 252 252 missense 0.007 benign 0.2 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1299695159 2q34 2 209692928 G null P R 253 253 missense 0.171 benign 0.01 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1411939545 2q34 2 209692927 A null P T 253 253 missense 0.082 benign 0.26 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1447794121 2q34 2 209692933 A null E K 255 255 missense 0.007 benign 0.53 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1447794121 2q34 2 209692933 C null E Q 255 255 missense 0.012 benign 0.17 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs776555892 2q34 2 209692936 G null P A 256 256 missense 0.089 benign 0.03 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1285381545 2q34 2 209692939 T null P S 257 257 missense 0.005 benign 0.29 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1170537641 2q34 2 209692942 G null T A 258 258 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1170537641 2q34 2 209692942 T null T S 258 258 missense 0.0 benign 0.18 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1351685501 2q34 2 209692945 G null P A 259 259 missense 0.0 benign 0.16 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs148073159 2q34 2 209692952 G null E G 261 261 missense 0.089 benign 0.05 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1285280008 2q34 2 209692954 A null Q K 262 262 missense 0.129 benign 0.02 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs769820712 2q34 2 209692960 A null D N 264 264 missense 0.996 probably damaging 0.02 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059334512 2q34 2 209692965 C null W C 265 265 missense 0.801 possibly damaging 0.01 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1446356410 2q34 2 209692966 A null F I 266 266 missense 0.45 possibly damaging 0.52 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs147043359 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209692972 A null E K 268 268 0.0002 missense 0.159 benign 0.08 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs763598431 2q34 2 209692976 G null M R 269 269 missense 0.268 benign 0.01 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1385264339 2q34 2 209692979 T null P L 270 270 missense 0.996 probably damaging 0.06 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1385264339 2q34 2 209692979 A null P Q 270 270 missense 0.998 probably damaging 0.01 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs898675130 2q34 2 209692978 A null P T 270 270 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,gnomAD rs200313728 2q34 2 209692981 G null T A 271 271 missense 0.023 benign 0.43 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,gnomAD rs547929820 2q34 2 209692982 A null T K 271 271 missense 0.003 benign 1.0 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs547929820 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209692982 T null T M 271 271 0.0002 missense 0.006 benign 0.31 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1453983488 2q34 2 209692984 A null E K 272 272 missense 0.684 possibly damaging 0.06 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1374736139 2q34 2 209692988 A null A E 273 273 missense 0.082 benign 0.04 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1309226108 2q34 2 209692987 A null A T 273 273 missense 0.0 benign 0.16 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs780421963 2q34 2 209692998 G null D E 276 276 missense 0.116 benign 0.74 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs370541070 2q34 2 209692997 G null D G 276 276 missense 0.802 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs370541070 2q34 2 209692997 T null D V 276 276 missense 0.934 probably damaging 0.0 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059344466 2q34 2 209693006 A null G D 279 279 missense 0.213 benign 0.03 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1280290806 2q34 2 209693008 A null L I 280 280 missense 0.236 benign 0.07 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1344596420 2q34 2 209693012 G null V G 281 281 missense 0.038 benign 0.59 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059346774 2q34 2 209693014 C null A P 282 282 missense 0.74 possibly damaging 0.01 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059346774 2q34 2 209693014 A null A T 282 282 missense 0.042 benign 0.22 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1438078186 2q34 2 209693017 T null P S 283 283 missense 0.25 benign 0.04 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs755445079 2q34 2 209693020 G null I V 284 284 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs2059351163 2q34 2 209693026 G null P A 286 286 missense 0.602 possibly damaging 0.18 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs748236243 2q34 2 209693030 T null G V 287 287 missense 0.781 possibly damaging 0.06 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059353639 2q34 2 209693042 A null P H 291 291 missense 0.965 probably damaging 0.0 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059353639 2q34 2 209693042 G null P R 291 291 missense 0.934 probably damaging 0.0 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs772314732 2q34 2 209693044 T null M L 292 292 missense 0.093 benign 0.2 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1477486506 2q34 2 209693045 G null M R 292 292 missense 0.777 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs772314732 2q34 2 209693044 G null M V 292 292 missense 0.019 benign 0.06 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs373965031 2q34 2 209693049 T null R S 293 293 missense 0.038 benign 0.0 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1583616439 2q34 2 209693048 C null R T 293 293 missense 0.006 benign 0.11 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059357393 2q34 2 209693050 A null E K 294 294 missense 0.003 benign 0.3 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1427661777 2q34 2 209693053 G null K E 295 295 missense 0.238 benign 0.01 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs2059359163 2q34 2 209693055 C null K N 295 295 missense 0.009 benign 0.02 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1470536680 2q34 2 209693054 C null K T 295 295 missense 0.304 benign 0.0 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs747265959 2q34 2 209693058 A null D E 296 296 missense 0.603 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1217490742 2q34 2 209693059 A null V I 297 297 missense 0.369 benign 0.17 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs769662342 2q34 2 209693063 C null F S 298 298 missense 0.061 benign 0.04 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs775436216 2q34 2 209693069 G null D G 300 300 missense 0.006 benign 0.0 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs775436216 2q34 2 209693069 T null D V 300 300 missense 0.371 benign 0.0 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,gnomAD rs539917418 2q34 2 209693084 G null E G 305 305 0.000196232 missense 0.316 benign 0.02 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059365535 2q34 2 209693086 A null G R 306 306 missense 0.934 probably damaging 0.07 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs773895821 2q34 2 209693089 G null K E 307 307 missense 0.746 possibly damaging 0.05 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1223927595 2q34 2 209693092 G null Q E 308 308 missense 0.125 benign 0.1 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1257274029 2q34 2 209693093 G null Q R 308 308 missense 0.125 benign 0.1 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153716337 2q34 2 209693096 G null F C 309 309 missense 0.801 possibly damaging 0.01 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059369033 2q34 2 209693098 A null D N 310 310 missense 0.751 possibly damaging 0.02 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs761272143 2q34 2 209693101 C null S P 311 311 missense 0.945 probably damaging 0.0 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153716371 2q34 2 209693104 T null P S 312 312 missense 0.998 probably damaging 0.2 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1019622966 2q34 2 209693109 A null M I 313 313 missense 0.203 benign 0.14 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1250610603 2q34 2 209693108 A null M K 313 313 missense 0.003 benign 0.07 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,gnomAD rs149416048 2q34 2 209693117 T null P L 316 316 missense 0.999 probably damaging 0.07 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1331065112 2q34 2 209693120 A null F Y 317 317 missense 0.979 probably damaging 0.07 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1270626532 2q34 2 209693126 T null G V 319 319 missense 0.082 benign 0.04 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1408927893 2q34 2 209693128 A null G R 320 320 missense 0.889 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs754223651 2q34 2 209693133 G null S R 321 321 missense 0.673 possibly damaging 0.01 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs755499233 2q34 2 209693137 G null T A 323 323 missense 0.179 benign 0.24 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs779338658 2q34 2 209693138 T null T I 323 323 missense 0.672 possibly damaging 0.05 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1011114690 2q34 2 209693144 G null P R 325 325 missense 0.963 probably damaging 0.01 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,gnomAD rs75373148 2q34 2 209693147 C null L S 326 326 0.000392465 missense 0.005 benign 0.18 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1032645431 2q34 2 209693152 A null V I 328 328 missense 0.001 benign 0.34 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1346396152 2q34 2 209693156 C null M T 329 329 missense 0.015 benign 0.5 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144780312 2q34 2 209693155 G null M V 329 329 missense 0.0 benign 0.51 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1341751895 2q34 2 209693166 C null E D 332 332 missense 0.007 benign 0.05 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs747169947 2q34 2 209693168 C null I T 333 333 missense 0.0 benign 0.19 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1277323303 2q34 2 209693167 G null I V 333 333 missense 0.015 benign 0.21 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs757553980 2q34 2 209693170 A null V I 334 334 missense 0.001 benign 0.38 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059384159 2q34 2 209693174 T null T I 335 335 missense 0.023 benign 0.01 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1354981061 2q34 2 209693177 G null E G 336 336 missense 0.056 benign 0.5 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059386114 2q34 2 209693180 T null T I 337 337 missense 0.024 benign 0.15 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,dbSNP,dbSNP rs144486691 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209693183 T null S L 338 338 missense 0.038 benign 0.15 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs368108274 2q34 2 209693185 A null P T 339 339 missense 0.159 benign 0.0 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1261442889 2q34 2 209693188 C null F L 340 340 missense 0.0 benign 0.38 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs999894929 2q34 2 209693189 C null F S 340 340 missense 0.005 benign 0.33 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1559574828 2q34 2 209693195 G null P R 342 342 missense 0.853 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs143122612 2q34 2 209693194 T null P S 342 342 missense 0.189 benign 0.05 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs143122612 2q34 2 209693194 A null P T 342 342 missense 0.069 benign 0.09 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs760316421 2q34 2 209693198 A null A D 343 343 missense 0.06 benign 0.63 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1308880403 2q34 2 209693204 C null L S 345 345 missense 0.379 benign 0.18 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153716907 2q34 2 209693209 T null P S 347 347 missense 0.015 benign 0.3 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059394802 2q34 2 209693214 G null D E 348 348 missense 0.013 benign 0.44 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs777032891 2q34 2 209693217 G null D E 349 349 missense 0.089 benign 0.09 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153716947 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209693216 G null D G 349 349 missense 0.003 benign 0.07 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs765662688 2q34 2 209693220 C null K N 350 350 missense 0.161 benign 0.13 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs759857833 2q34 2 209693218 C null K Q 350 350 missense 0.012 benign 0.19 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059396969 2q34 2 209693222 C null K T 351 351 missense 0.003 benign 0.06 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs758987155 2q34 2 209693224 G null S A 352 352 missense 0.003 benign 0.12 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs764199070 2q34 2 209693225 G null S C 352 352 missense 0.644 possibly damaging 0.02 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs764199070 2q34 2 209693225 A null S Y 352 352 missense 0.184 benign 0.05 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed rs371836048 2q34 2 209693227 G null L V 353 353 missense 0.223 benign 0.51 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs757537523 2q34 2 209693234 G null Q R 355 355 missense 0.024 benign 0.0 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs781315050 2q34 2 209693239 T null S C 357 357 missense 0.717 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs781315050 2q34 2 209693239 G null S G 357 357 missense 0.003 benign 0.15 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs781315050 2q34 2 209693239 C null S R 357 357 missense 0.458 possibly damaging 0.06 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1242589170 2q34 2 209693243 A null G D 358 358 missense 0.209 benign 1.0 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1242589170 2q34 2 209693243 T null G V 358 358 missense 0.304 benign 0.09 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059405152 2q34 2 209693245 G null P A 359 359 missense 0.007 benign 0.33 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs754683524 2q34 2 209693246 G null P R 359 359 missense 0.326 benign 0.26 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs778786555 2q34 2 209693248 C null A P 360 360 missense 0.268 benign 0.23 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs778786555 2q34 2 209693248 A null A T 360 360 missense 0.06 benign 0.69 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,gnomAD rs571716983 2q34 2 209693249 T null A V 360 360 0.000196232 missense 0.0 benign 0.52 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs554559632 2q34 2 209693258 G null K R 363 363 missense 0.893 possibly damaging 0.01 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs554559632 2q34 2 209693258 C null K T 363 363 missense 0.903 possibly damaging 0.02 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs746572323 2q34 2 209693262 G null D E 364 364 missense 0.003 benign 0.12 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1559575357 2q34 2 209693260 T null D Y 364 364 missense 0.811 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059410281 2q34 2 209693263 C null S R 365 365 missense 0.209 benign 0.38 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059410833 2q34 2 209693266 C null F L 366 366 missense 0.0 benign 0.33 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1318370896 2q34 2 209693269 G null K E 367 367 missense 0.0 benign 0.05 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1318370896 2q34 2 209693269 C null K Q 367 367 missense 0.027 benign 0.03 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059412652 2q34 2 209693273 C null I T 368 368 missense 0.015 benign 0.59 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs776106329 2q34 2 209693272 G null I V 368 368 missense 0.0 benign 0.69 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153717346 2q34 2 209693280 T null E D 370 370 missense 0.003 benign 0.21 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1422571918 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209693278 A null E K 370 370 missense 0.089 benign 0.15 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1422571918 2q34 2 209693278 C null E Q 370 370 missense 0.013 benign 0.84 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs759252745 2q34 2 209693282 A null P H 371 371 missense 0.255 benign 0.56 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,gnomAD rs375194510 2q34 2 209693285 G null H R 372 372 missense 0.024 benign 0.05 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1439214550 2q34 2 209693287 A null E K 373 373 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs960751098 2q34 2 209693291 G null A G 374 374 missense 0.005 benign 0.09 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs960751098 2q34 2 209693291 T null A V 374 374 missense 0.007 benign 0.02 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059416696 2q34 2 209693293 G null K E 375 375 missense 0.003 benign 0.19 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059417251 2q34 2 209693301 A null D E 377 377 missense 0.083 benign 0.28 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs140194857 2q34 2 209693307 A null M I 379 379 missense 0.0 benign 0.31 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1347211988 2q34 2 209693306 A null M K 379 379 missense 0.015 benign 0.03 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1347211988 2q34 2 209693306 C null M T 379 379 missense 0.0 benign 0.29 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1289215995 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209693308 T null A S 380 380 missense 0.129 benign 0.31 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1289215995 2q34 2 209693308 A null A T 380 380 missense 0.021 benign 0.24 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs764751130 2q34 2 209693317 T null P S 383 383 missense 0.007 benign 0.4 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1444749012 2q34 2 209693321 T null P L 384 384 missense 0.003 benign 0.11 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1386884652 2q34 2 209693324 T null S L 385 385 missense 0.034 benign 0.31 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs751665628 2q34 2 209693330 A null A E 387 387 missense 0.001 benign 0.11 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs751665628 2q34 2 209693330 G null A G 387 387 missense 0.038 benign 0.6 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs376544152 2q34 2 209693334 A null M I 388 388 missense 0.0 benign 0.74 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1382817967 2q34 2 209693333 C null M T 388 388 missense 0.0 benign 0.16 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153717510 2q34 2 209693338 G null L V 390 390 missense 0.001 benign 1.0 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1218247746 2q34 2 209693342 T null P L 391 391 missense 0.0 benign 0.04 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs2059423034 2q34 2 209693341 T null P S 391 391 missense 0.0 benign 0.15 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059424053 2q34 2 209693344 G null K E 392 392 missense 0.001 benign 0.25 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs767661117 2q34 2 209693345 G null K R 392 392 missense 0.053 benign 0.21 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs750557335 2q34 2 209693347 A null D N 393 393 missense 0.0 benign 0.06 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1239396580 2q34 2 209693348 T null D V 393 393 missense 0.012 benign 0.08 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1255769573 2q34 2 209693350 A null A T 394 394 missense 0.001 benign 0.2 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059427250 2q34 2 209693355 A null H Q 395 395 missense 0.089 benign 0.28 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs920200843 2q34 2 209693353 T null H Y 395 395 missense 0.208 benign 0.52 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1487358661 2q34 2 209693356 G null I V 396 396 missense 0.0 benign 0.33 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059428360 2q34 2 209693359 G null P A 397 397 missense 0.034 benign 0.07 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1482506692 2q34 2 209693362 C null V L 398 398 missense 0.014 benign 0.59 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs756367629 2q34 2 209693366 C null V A 399 399 missense 0.083 benign 0.62 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1206099210 2q34 2 209693365 A null V I 399 399 missense 0.013 benign 0.44 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs2059431089 2q34 2 209693375 T null H L 402 402 missense 0.003 benign 0.68 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1176864619 2q34 2 209693374 A null H N 402 402 missense 0.0 benign 0.43 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs2059431089 2q34 2 209693375 G null H R 402 402 missense 0.024 benign 0.48 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1176864619 2q34 2 209693374 T null H Y 402 402 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs752547647 2q34 2 209693380 T null M L 404 404 missense 0.0 benign 0.7 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs752547647 2q34 2 209693380 G null M V 404 404 missense 0.0 benign 0.61 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059433730 2q34 2 209693384 A null G E 405 405 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1175670493 2q34 2 209693383 A null G R 405 405 missense 0.024 benign 0.17 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153717710 2q34 2 209693386 G null K E 406 406 missense 0.0 benign 0.04 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs777729885 2q34 2 209693390 A null V D 407 407 missense 0.397 benign 0.07 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs755708 2q34 2 209693389 T null V F 407 407 0.00294349 missense 0.326 benign 0.13 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,gnomAD rs557310008 2q34 2 209693393 C null L S 408 408 0.000196232 missense 0.005 benign 0.51 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,dbSNP,dbSNP,gnomAD rs770296783 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209693395 C null E Q 409 409 missense 0.137 benign 0.05 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs780766647 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209693400 C null E D 410 410 missense 0.446 benign 0.4 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1374972098 2q34 2 209693404 G null K E 412 412 missense 0.007 benign 0.5 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs201958756 2q34 2 209693406 C null K N 412 412 missense 0.213 benign 0.01 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059440765 2q34 2 209693408 G null E G 413 413 missense 0.0 benign 0.54 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059440231 2q34 2 209693407 A null E K 413 413 missense 0.033 benign 0.25 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1559576445 2q34 2 209693411 A null A D 414 414 missense 0.056 benign 0.56 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs41265969 2q34 2 209693410 C null A P 414 414 missense 0.138 benign 0.22 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs41265969 2q34 2 209693410 T null A S 414 414 missense 0.038 benign 0.61 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs887244982 2q34 2 209693415 G null I M 415 415 missense 0.455 possibly damaging 0.17 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs769252782 2q34 2 209693419 A null Q K 417 417 missense 0.038 benign 0.1 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1264230170 2q34 2 209693420 C null Q P 417 417 missense 0.001 benign 0.07 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153717863 2q34 2 209693423 G null E G 418 418 missense 0.332 benign 0.0 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1424878892 2q34 2 209693422 A null E K 418 418 missense 0.262 benign 0.05 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1473868663 2q34 2 209693428 C null V L 420 420 missense 0.005 benign 0.7 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs774953298 2q34 2 209693433 C null Q H 421 421 missense 0.361 benign 0.01 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1197375408 2q34 2 209693434 A null Q K 422 422 missense 0.0 benign 0.96 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs741006 2q34 2 209693438 A null R K 423 423 missense 1 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,gnomAD rs563383203 2q34 2 209693441 G null D G 424 424 0.000196232 missense 0.052 benign 0.2 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059450698 2q34 2 209693443 G null T A 425 425 missense 0.007 benign 0.24 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs750587053 2q34 2 209693444 T null T I 425 425 missense 0.0 benign 0.14 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs750587053 2q34 2 209693444 G null T S 425 425 missense 0.023 benign 0.32 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs760795168 2q34 2 209693450 T null T I 427 427 missense 0.003 benign 0.38 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs760795168 2q34 2 209693450 A null T N 427 427 missense 0.357 benign 0.29 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs766673783 2q34 2 209693452 T null P S 428 428 missense 0.003 benign 0.64 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs766673783 2q34 2 209693452 A null P T 428 428 missense 0.038 benign 0.51 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,dbSNP,dbSNP rs1043905466 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209693455 T null S C 429 429 missense 0.644 possibly damaging 0.01 deleterious - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs902740807 2q34 2 209693456 A null S N 429 429 missense 0.0 benign 0.17 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs902740807 2q34 2 209693456 C null S T 429 429 missense 0.083 benign 0.2 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs758152120 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209693458 A null G R 430 430 missense 0.304 benign 0.04 deleterious - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1300177397 2q34 2 209693459 T null G V 430 430 missense 0.009 benign 0.03 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059457138 2q34 2 209693461 A null Q K 431 431 missense 0.684 possibly damaging 0.04 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,dbSNP,dbSNP,gnomAD rs1361667762 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209693465 G null E G 432 432 missense 0.609 possibly damaging 0.14 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs777564423 2q34 2 209693464 A null E K 432 432 missense 0.029 benign 0.49 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs751438900 2q34 2 209693467 T null P S 433 433 missense 0.0 benign 0.81 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs999794940 2q34 2 209693470 T null I L 434 434 missense 0.001 benign 0.19 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs999794940 2q34 2 209693470 G null I V 434 434 missense 0.001 benign 0.31 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059460374 2q34 2 209693486 C null E A 439 439 missense 0.049 benign 0.01 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1343261340 2q34 2 209693489 G null T S 440 440 missense 0.0 benign 0.41 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,gnomAD rs573735618 2q34 2 209693493 T null E D 441 441 0.000196232 missense 0.024 benign 0.24 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059462140 2q34 2 209693491 C null E Q 441 441 missense 0.0 benign 0.42 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059463570 2q34 2 209693495 C null L P 442 442 missense 0.0 benign 0.27 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059464169 2q34 2 209693498 G null K R 443 443 missense 0.21 benign 0.03 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1263968622 2q34 2 209693500 T null L F 444 444 missense 0.007 benign 0.52 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs559128475 2q34 2 209693509 G null K E 447 447 missense 0.083 benign 0.03 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,gnomAD rs193121376 2q34 2 209693512 G null T A 448 448 missense 0.01 benign 0.1 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059468030 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209693513 A null T N 448 448 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs374131363 2q34 2 209693527 G null K E 453 453 missense 0.009 benign 0.16 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1246036838 2q34 2 209693531 G null E G 454 454 missense 0.056 benign 0.1 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs376769791 2q34 2 209693530 A null E K 454 454 missense 0.001 benign 0.28 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs376769791 2q34 2 209693530 C null E Q 454 454 missense 0.082 benign 0.19 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,gnomAD rs369176617 2q34 2 209693534 A null A D 455 455 missense 0.424 benign 0.92 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,gnomAD rs369176617 2q34 2 209693534 T null A V 455 455 missense 0.08 benign 0.33 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1457163029 2q34 2 209693539 T null P S 457 457 missense 0.007 benign 0.27 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs957974392 2q34 2 209693547 C null E D 459 459 missense 0.007 benign 0.86 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes rs559654317 2q34 2 209693554 A null P T 462 462 0.000196232 missense 0.007 benign 0.15 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059480246 2q34 2 209693558 T null P L 463 463 missense 0.0 benign 0.22 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1348176355 2q34 2 209693563 A null P T 465 465 missense 0.01 benign 0.45 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059483575 2q34 2 209693570 G null D G 467 467 missense 0.608 possibly damaging 0.03 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs760851220 2q34 2 209693569 T null D Y 467 467 missense 0.914 probably damaging 0.01 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059484752 2q34 2 209693572 A null E K 468 468 missense 0.003 benign 0.26 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs141459532 2q34 2 209693575 A null E K 469 469 missense 0.009 benign 0.06 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs141459532 2q34 2 209693575 C null E Q 469 469 missense 0.304 benign 0.11 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1163478870 2q34 2 209693579 G null I R 470 470 missense 0.007 benign 0.09 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1163478870 2q34 2 209693579 C null I T 470 470 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059487106 2q34 2 209693581 C null G R 471 471 missense 0.24 benign 0.06 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1363237286 2q34 2 209693584 G null I V 472 472 missense 0.0 benign 0.81 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs2059488224 2q34 2 209693594 T null T I 475 475 missense 0.023 benign 0.11 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs2059488224 2q34 2 209693594 G null T S 475 475 missense 0.009 benign 0.92 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059489636 2q34 2 209693597 T null S F 476 476 missense 0.357 benign 0.06 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059490806 2q34 2 209693599 G null T A 477 477 missense 0.056 benign 0.49 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs759766545 2q34 2 209693607 A null H Q 479 479 missense 0.0 benign 0.51 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1422878929 2q34 2 209693605 T null H Y 479 479 missense 0.09 benign 0.88 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs763809944 2q34 2 209693609 G null T S 480 480 missense 0.007 benign 0.16 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs199575901 2q34 2 209693611 A null F I 481 481 missense 0.001 benign 0.51 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs757125538 2q34 2 209693612 C null F S 481 481 missense 0.056 benign 0.45 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs2059494950 2q34 2 209693615 T null S L 482 482 missense 0.001 benign 0.08 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs767536306 2q34 2 209693620 G null Q E 484 484 missense 0.0 benign 0.38 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1313003118 2q34 2 209693621 G null Q R 484 484 missense 0.024 benign 0.02 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs749867327 2q34 2 209693623 G null K E 485 485 missense 0.08 benign 0.09 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein dbSNP,dbSNP,gnomAD rs1223475710 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209693626 A null D N 486 486 missense 0.007 benign 0.22 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059497749 2q34 2 209693629 A null Q K 487 487 missense 0.003 benign 0.76 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs755608096 2q34 2 209693635 G null P A 489 489 missense 0.003 benign 0.08 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs2059500044 2q34 2 209693642 T null T I 491 491 missense 0.003 benign 0.11 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs185552042 2q34 2 209693645 G null D G 492 492 0.000196232 missense 0.083 benign 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs185552042 2q34 2 209693645 T null D V 492 492 0.000196232 missense 0.12 benign 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs754747611 2q34 2 209693648 G null M R 493 493 missense 0.024 benign 0.7 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs754747611 2q34 2 209693648 C null M T 493 493 missense 0.01 benign 0.6 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1258234928 2q34 2 209693647 G null M V 493 493 missense 0.0 benign 1.0 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1442752399 2q34 2 209693663 T null S L 498 498 missense 0.003 benign 0.29 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1243722188 2q34 2 209693662 C null S P 498 498 missense 0.477 possibly damaging 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1442752399 2q34 2 209693663 G null S W 498 498 missense 0.732 possibly damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138285352 2q34 2 209693667 G null F L 499 499 0.000196232 missense 0.043 benign 0.25 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153718652 2q34 2 209693666 A null F Y 499 499 missense 0.857 possibly damaging 0.11 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059507874 2q34 2 209693669 A null P H 500 500 missense 0.852 possibly damaging 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153718665 2q34 2 209693668 T null P S 500 500 missense 0.015 benign 0.05 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,gnomAD rs200834782 2q34 2 209693671 A null V I 501 501 0.000196232 missense 0.001 benign 0.24 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,gnomAD rs200834782 2q34 2 209693671 C null V L 501 501 0.000196232 missense 0.001 benign 0.56 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs770938168 2q34 2 209693674 T null S C 502 502 missense 0.624 possibly damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs770938168 2q34 2 209693674 G null S G 502 502 missense 0.0 benign 0.11 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,TOPMed,gnomAD rs201025312 2q34 2 209693675 T null S I 502 502 missense 0.05 benign 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs770938168 2q34 2 209693674 C null S R 502 502 missense 0.171 benign 0.04 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1298683768 2q34 2 209693680 C null E Q 504 504 missense 0.88 possibly damaging 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs199806559 2q34 2 209693685 T null Q H 505 505 missense 0.67 possibly damaging 0.27 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059513211 2q34 2 209693684 G null Q R 505 505 missense 0.014 benign 0.09 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1399261765 2q34 2 209693686 A null A T 506 506 missense 0.003 benign 0.84 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059516227 2q34 2 209693689 A null V I 507 507 missense 0.054 benign 0.33 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs973515741 2q34 2 209693692 G null T A 508 508 missense 0.17 benign 0.33 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059517538 2q34 2 209693693 T null T I 508 508 missense 0.304 benign 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs2059518880 2q34 2 209693696 G null D G 509 509 missense 0.003 benign 0.05 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs767244542 2q34 2 209693698 G null S A 510 510 missense 0.0 benign 0.31 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs746123984 2q34 2 209693705 C null M T 512 512 missense 0.0 benign 0.55 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs2059521521 2q34 2 209693713 G null K E 515 515 missense 0.006 benign 0.44 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs2059521521 2q34 2 209693713 C null K Q 515 515 missense 0.005 benign 0.25 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1308720308 2q34 2 209693716 C null T P 516 516 missense 0.286 benign 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1308720308 2q34 2 209693716 T null T S 516 516 missense 0.056 benign 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1225748085 2q34 2 209693719 A null L M 517 517 missense 0.83 possibly damaging 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs369903670 2q34 2 209693720 C null L P 517 517 missense 0.017 benign 0.21 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059527342 2q34 2 209693733 A null M I 521 521 missense 0.003 benign 0.39 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs373541213 2q34 2 209693734 G null T A 522 522 missense 0.009 benign 0.51 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs747788362 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209693737 A null E K 523 523 missense 0.04 benign 0.09 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs908733854 2q34 2 209693741 T null P L 524 524 missense 0.009 benign 0.05 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1462212513 2q34 2 209693740 A null P T 524 524 missense 0.238 benign 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,TOPMed,gnomAD rs550242350 2q34 2 209693744 G null S C 525 525 0.000196232 missense 0.001 benign 0.12 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs758743372 2q34 2 209693743 C null S P 525 525 missense 0.0 benign 0.15 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs758743372 2q34 2 209693743 A null S T 525 525 missense 0.0 benign 0.34 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,TOPMed,gnomAD rs550242350 2q34 2 209693744 A null S Y 525 525 0.000196232 missense 0.185 benign 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1468277262 2q34 2 209693746 C null A P 526 526 missense 0.001 benign 0.18 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs747481180 2q34 2 209693752 G null I V 528 528 missense 0.01 benign 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs373786563 2q34 2 209693756 C null E A 529 529 missense 0.347 benign 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs373786563 2q34 2 209693756 G null E G 529 529 missense 0.447 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs2059535568 2q34 2 209693755 C null E Q 529 529 missense 0.751 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153718910 2q34 2 209693759 G null K R 530 530 missense 0.003 benign 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC rs745992954 2q34 2 209693761 G null S G 531 531 missense 0.056 benign 0.21 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs769968794 2q34 2 209693767 G null I V 533 533 missense 0.01 benign 0.21 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1453398772 2q34 2 209693771 G null Q R 534 534 missense 0.001 benign 0.5 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1328622185 2q34 2 209693774 C null E A 535 535 missense 0.023 benign 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1328622185 2q34 2 209693774 G null E G 535 535 missense 0.0 benign 0.16 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs775738016 2q34 2 209693787 A null M I 539 539 missense 0.038 benign 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1244218520 2q34 2 209693785 G null M V 539 539 missense 0.019 benign 0.11 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs763103929 2q34 2 209693789 A null R K 540 540 missense 0.0 benign 1.0 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs2059542442 2q34 2 209693791 A null V I 541 541 missense 0.0 benign 0.5 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1483916842 2q34 2 209693800 G null K E 544 544 missense 0.357 benign 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1483916842 2q34 2 209693800 C null K Q 544 544 missense 0.707 possibly damaging 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153718992 2q34 2 209693801 G null K R 544 544 missense 0.514 possibly damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs772950390 2q34 2 209693804 G null D G 545 545 missense 0.009 benign 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs760679414 2q34 2 209693806 G null K E 546 546 missense 0.003 benign 0.27 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1222673534 2q34 2 209693813 G null E G 548 548 missense 0.472 possibly damaging 0.05 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1222673534 2q34 2 209693813 T null E V 548 548 missense 0.555 possibly damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1333561421 2q34 2 209693816 A null G E 549 549 missense 0.009 benign 0.81 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,gnomAD rs570157143 2q34 2 209693819 C null V A 550 550 missense 0.0 benign 0.62 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1325574816 2q34 2 209693818 T null V F 550 550 missense 0.357 benign 0.21 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,gnomAD rs570157143 2q34 2 209693819 G null V G 550 550 missense 0.056 benign 0.22 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1325574816 2q34 2 209693818 A null V I 550 550 missense 0.077 benign 0.24 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1435622716 2q34 2 209693822 A null G E 551 551 missense 0.574 possibly damaging 0.25 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1249172204 2q34 2 209693821 A null G R 551 551 missense 0.042 benign 0.09 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed rs753367482 2q34 2 209693825 A null A D 552 552 missense 0.001 benign 0.22 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed rs753367482 2q34 2 209693825 G null A G 552 552 missense 0.038 benign 0.11 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1183477185 2q34 2 209693824 T null A S 552 552 missense 0.003 benign 0.5 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs759077404 2q34 2 209693827 A null A T 553 553 missense 0.003 benign 0.1 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs2059552426 2q34 2 209693830 T null T S 554 554 missense 0.001 benign 0.44 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs764677689 2q34 2 209693834 T null S L 555 555 missense 0.003 benign 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059554505 2q34 2 209693837 G null A G 556 556 missense 0.129 benign 0.1 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs752338755 2q34 2 209693836 C null A P 556 556 missense 0.011 benign 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs752338755 2q34 2 209693836 T null A S 556 556 missense 0.011 benign 0.13 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs752338755 2q34 2 209693836 A null A T 556 556 missense 0.007 benign 0.12 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1311074177 2q34 2 209693841 T null E D 557 557 missense 0.003 benign 0.2 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1431981693 2q34 2 209693846 G null D G 559 559 missense 0.003 benign 0.23 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1583644241 2q34 2 209693845 T null D Y 559 559 missense 0.67 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059557402 2q34 2 209693850 A null M I 560 560 missense 0.014 benign 0.14 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059556836 2q34 2 209693848 G null M V 560 560 missense 0.0 benign 0.22 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1170649081 2q34 2 209693857 C null Y H 563 563 missense 0.75 possibly damaging 0.08 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153719218 2q34 2 209693860 A null E K 564 564 missense 0.857 possibly damaging 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1394361009 2q34 2 209693865 G null D E 565 565 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs757989765 2q34 2 209693873 T null G V 568 568 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1329705421 2q34 2 209693875 C null M L 569 569 missense 0.912 probably damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059561351 2q34 2 209693878 C null S P 570 570 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs778193890 2q34 2 209693882 G null K R 571 571 missense 0.918 probably damaging 0.01 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1281135482 2q34 2 209693891 T null E V 574 574 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059563867 2q34 2 209693894 T null T I 575 575 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs2059565107 2q34 2 209693896 C null S P 576 576 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs868770250 2q34 2 209693899 T null A S 577 577 missense 0.262 benign 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1224019812 2q34 2 209693900 T null A V 577 577 missense 0.017 benign 0.08 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1336836562 2q34 2 209693908 A null E K 580 580 missense 0.365 benign 0.05 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1336836562 2q34 2 209693908 C null E Q 580 580 missense 0.719 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs932742646 2q34 2 209693920 G null K E 584 584 missense 0.129 benign 0.09 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC rs757739402 2q34 2 209693924 T null S I 585 585 missense 0.023 benign 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs746402332 2q34 2 209693927 C null I T 586 586 missense 0.001 benign 0.17 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs781690984 2q34 2 209693926 G null I V 586 586 missense 0.023 benign 0.26 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1271460323 2q34 2 209693938 C null S R 590 590 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1559580218 2q34 2 209693948 G null Y C 593 593 missense 0.999 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059575900 2q34 2 209693950 A null E K 594 594 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1309298074 2q34 2 209693954 C null L P 595 595 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1193046103 2q34 2 209693957 A null S N 596 596 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059579418 2q34 2 209693962 G null T A 598 598 missense 0.011 benign 0.22 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1397693217 2q34 2 209693963 G null T S 598 598 missense 0.02 benign 0.1 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs111865603 2q34 2 209693968 A null E K 600 600 missense 0.531 possibly damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1371848528 2q34 2 209693971 G null S G 601 601 missense 0.204 benign 0.05 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1400032961 2q34 2 209693972 A null S N 601 601 missense 0.019 benign 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs769813764 2q34 2 209693975 C null V A 602 602 missense 0.0 benign 1.0 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1168554355 2q34 2 209693980 T null E * 604 604 stop gained 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1168554355 2q34 2 209693980 A null E K 604 604 missense 0.464 possibly damaging 0.02 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,TOPMed,gnomAD rs191979907 2q34 2 209693986 G null I V 606 606 0.000196232 missense 0.0 benign 0.26 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1305238803 2q34 2 209693990 G null D G 607 607 missense 0.102 benign 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs749522751 2q34 2 209693993 T null T I 608 608 missense 0.007 benign 0.16 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs760587142 2q34 2 209693997 C null M I 609 609 missense 0.0 benign 0.62 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs773038724 2q34 2 209693995 G null M V 609 609 missense 0.0 benign 1.0 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1229602240 2q34 2 209693998 C null S P 610 610 missense 0.003 benign 0.34 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153719648 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209694002 T null P L 611 611 missense 0.007 benign 0.22 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs935522990 2q34 2 209694006 A null M I 612 612 missense 0.0 benign 0.41 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1270272357 2q34 2 209694005 C null M T 612 612 missense 0.0 benign 0.4 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs770884547 2q34 2 209694007 G null H D 613 613 missense 0.024 benign 1.0 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1054202637 2q34 2 209694008 G null H R 613 613 missense 0.0 benign 0.37 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153719699 2q34 2 209694014 G null N S 615 615 missense 0.0 benign 0.46 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153719708 2q34 2 209694016 T null G C 616 616 missense 0.852 possibly damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs375864756 2q34 2 209694017 A null G D 616 616 missense 0.009 benign 0.53 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs375864756 2q34 2 209694017 T null G V 616 616 missense 0.582 possibly damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein dbSNP,dbSNP,gnomAD rs1293526747 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209694019 A null D N 617 617 missense 0.06 benign 0.03 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs762650609 2q34 2 209694032 G null Q R 621 621 missense 0.056 benign 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1430804841 2q34 2 209694035 G null T R 622 622 missense 0.024 benign 0.16 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs763698477 2q34 2 209694038 T null G V 623 623 missense 0.141 benign 0.08 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059597531 2q34 2 209694044 C null E A 625 625 missense 0.003 benign 0.08 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059596940 2q34 2 209694043 A null E K 625 625 missense 0.007 benign 0.18 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059597531 2q34 2 209694044 T null E V 625 625 missense 0.129 benign 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1384661638 2q34 2 209694047 T null S F 626 626 missense 0.449 possibly damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1384661638 2q34 2 209694047 A null S Y 626 626 missense 0.352 benign 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1583650651 2q34 2 209694050 G null Q R 627 627 missense 0.849 possibly damaging 0.12 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1439432353 2q34 2 209694053 T null P L 628 628 missense 0.477 possibly damaging 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1439432353 2q34 2 209694053 G null P R 628 628 missense 0.515 possibly damaging 0.1 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1583651176 2q34 2 209694055 G null S G 629 629 missense 0.003 benign 0.16 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1386101055 2q34 2 209694058 G null P A 630 630 missense 0.0 benign 0.94 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1020852852 2q34 2 209694062 T null P L 631 631 missense 0.45 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs2059604646 2q34 2 209694064 C null A P 632 632 missense 0.808 possibly damaging 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs757577771 2q34 2 209694065 T null A V 632 632 missense 0.038 benign 0.05 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs781557722 2q34 2 209694067 A null Q K 633 633 missense 0.121 benign 0.05 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs750870051 2q34 2 209694068 C null Q P 633 633 missense 0.574 possibly damaging 0.11 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059607026 2q34 2 209694077 A null G E 636 636 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs756647705 2q34 2 209694080 G null Y C 637 637 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059608194 2q34 2 209694084 A null S R 638 638 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059608816 2q34 2 209694086 T null T I 639 639 missense 0.998 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1318957337 2q34 2 209694088 T null L F 640 640 missense 0.999 probably damaging 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1381347678 2q34 2 209694089 C null L P 640 640 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1318957337 2q34 2 209694088 G null L V 640 640 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1359688342 2q34 2 209694092 G null A G 641 641 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs780170027 2q34 2 209694091 C null A P 641 641 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs780170027 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209694091 A null A T 641 641 missense 0.998 probably damaging 0.04 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1237962884 2q34 2 209694099 A null S R 643 643 missense 0.007 benign 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1023594822 2q34 2 209694103 G null P A 645 645 missense 0.099 benign 0.1 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1248154613 2q34 2 209694106 G null S A 646 646 missense 0.001 benign 0.39 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1243105847 2q34 2 209694110 G null D G 647 647 missense 0.719 possibly damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs768892152 2q34 2 209694109 C null D H 647 647 missense 0.922 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs778967761 2q34 2 209694116 G null P R 649 649 missense 0.934 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs748406713 2q34 2 209694121 A null E K 651 651 missense 0.994 probably damaging 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,gnomAD rs566003833 2q34 2 209694128 A null S N 653 653 missense 0.994 probably damaging 0.02 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein dbSNP,dbSNP,gnomAD rs1180769033 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209694127 C null S R 653 653 missense 0.998 probably damaging 0.05 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,dbSNP,dbSNP,gnomAD rs1352591650 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209694131 A null S Y 654 654 missense 0.998 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1453868057 2q34 2 209694133 G null P A 655 655 missense 0.997 probably damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1157255395 2q34 2 209694134 G null P R 655 655 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs776574458 2q34 2 209694139 A null E K 657 657 missense 0.994 probably damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1405275649 2q34 2 209694145 C null M L 659 659 missense 0.226 benign 0.18 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs757977900 2q34 2 209694146 C null M T 659 659 missense 0.744 possibly damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein dbSNP,dbSNP,gnomAD rs1405275649 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209694145 G null M V 659 659 missense 0.304 benign 0.1 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153720212 2q34 2 209694152 T null T I 661 661 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1246804981 2q34 2 209694154 G null I V 662 662 missense 0.979 probably damaging 0.14 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs769674020 2q34 2 209694157 A null D N 663 663 missense 0.896 possibly damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1174120682 2q34 2 209694163 G null K E 665 665 missense 0.883 possibly damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1379313585 2q34 2 209694167 C null V A 666 666 missense 0.991 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs762406263 2q34 2 209694170 G null Y C 667 667 missense 0.999 probably damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs762406263 2q34 2 209694170 T null Y F 667 667 missense 0.994 probably damaging 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,gnomAD rs148436232 2q34 2 209694177 C null E D 669 669 missense 0.043 benign 1.0 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153720315 2q34 2 209694176 T null E V 669 669 missense 0.932 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs761466743 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209694182 A null R K 671 671 missense 0.987 probably damaging 0.05 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs370470543 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209694187 T null L F 673 673 missense 0.999 probably damaging 0.08 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs370470543 2q34 2 209694187 A null L I 673 673 missense 0.996 probably damaging 0.15 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059633553 2q34 2 209694188 C null L P 673 673 missense 0.999 probably damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059633553 2q34 2 209694188 G null L R 673 673 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs111505040 2q34 2 209694191 G null H R 674 674 missense 0.996 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs756623045 2q34 2 209694193 G null S G 675 675 missense 0.782 possibly damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs766835859 2q34 2 209694194 A null S N 675 675 missense 0.31 benign 0.1 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs766835859 2q34 2 209694194 C null S T 675 675 missense 0.883 possibly damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153720405 2q34 2 209694196 T null K * 676 676 stop gained 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059638760 2q34 2 209694210 G null D E 680 680 missense 0.996 probably damaging 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1583656583 2q34 2 209694208 A null D N 680 680 missense 0.998 probably damaging 0.02 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1366466885 2q34 2 209694212 C null L S 681 681 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs2059640408 2q34 2 209694220 C null S R 684 684 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,dbSNP,dbSNP rs1165357745 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209694223 G null R G 685 685 missense 0.996 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC rs779150841 2q34 2 209694225 C null R S 685 685 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs748316679 2q34 2 209694235 G null L V 689 689 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1420591235 2q34 2 209694239 A null G D 690 690 missense 1.0 probably damaging 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059644810 2q34 2 209694241 A null G S 691 691 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs781117429 2q34 2 209694245 A null R K 692 692 missense 0.987 probably damaging 0.31 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059647677 2q34 2 209694254 C null I T 695 695 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059647106 2q34 2 209694253 G null I V 695 695 missense 0.979 probably damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059648249 2q34 2 209694256 C null E Q 696 696 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed rs769735396 2q34 2 209694267 G null S R 699 699 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs147861980 2q34 2 209694268 C null M L 700 700 missense 0.912 probably damaging 0.15 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs2059650909 2q34 2 209694272 T null S L 701 701 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,dbSNP,gnomAD rs146432517 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: a colorectal cancer sample; somatic mutation pubmed:16959974 2q34 2 209694284 T null P L 705 705 missense 0.987 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,gnomAD rs146432517 2q34 2 209694284 G null P R 705 705 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1410115682 2q34 2 209694288 T null M I 706 706 missense 0.962 probably damaging 0.27 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1290220394 2q34 2 209694286 C null M L 706 706 missense 0.912 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1290220394 2q34 2 209694286 G null M V 706 706 missense 0.962 probably damaging 0.05 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1283037496 2q34 2 209694290 A null S Y 707 707 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1211357227 2q34 2 209694292 A null C S 708 708 missense 0.996 probably damaging 0.13 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,gnomAD rs536750373 2q34 2 209694304 G null I V 712 712 0.000196232 missense 0.979 probably damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs778205006 2q34 2 209694308 A null A D 713 713 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1225870249 2q34 2 209694307 A null A T 713 713 missense 0.998 probably damaging 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,dbSNP,dbSNP,gnomAD rs767208132 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209694310 G null L V 714 714 missense 0.996 probably damaging 0.05 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1264758476 2q34 2 209694323 G null F C 718 718 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1253201382 2q34 2 209694322 C null F L 718 718 missense 0.987 probably damaging 0.04 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs148922251 2q34 2 209694326 A null G D 719 719 missense 0.885 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1481077460 2q34 2 209694325 A null G S 719 719 missense 0.222 benign 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs760907794 2q34 2 209694329 A null R Q 720 720 missense 0.996 probably damaging 0.03 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1267890622 2q34 2 209694328 T null R W 720 720 missense 0.999 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1201447025 2q34 2 209694331 C null G R 721 721 missense 0.958 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs766792470 2q34 2 209694335 G null H R 722 722 missense 0.996 probably damaging 0.28 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs771222437 2q34 2 209694344 G null S C 725 725 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1427351353 2q34 2 209694346 T null P S 726 726 missense 0.998 probably damaging 0.01 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059665435 2q34 2 209694352 T null A S 728 728 missense 0.924 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs754244309 2q34 2 209694356 G null S C 729 729 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs754244309 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209694356 T null S F 729 729 missense 0.998 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs201346969 2q34 2 209694358 C null D H 730 730 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs201346969 2q34 2 209694358 A null D N 730 730 missense 0.998 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs752879559 2q34 2 209694365 C null L P 732 732 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153720894 2q34 2 209694368 G null T S 733 733 missense 0.924 probably damaging 0.5 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes rs556979956 2q34 2 209694373 G null T A 735 735 0.000196232 missense 0.301 benign 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs781553701 2q34 2 209694374 G null T S 735 735 missense 0.866 possibly damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1364057707 2q34 2 209694376 T null S C 736 736 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059671673 2q34 2 209694380 A null G E 737 737 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs778177834 2q34 2 209694386 C null M T 739 739 missense 0.975 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs758669327 2q34 2 209694385 G null M V 739 739 missense 0.962 probably damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1213394340 2q34 2 209694391 A null E K 741 741 missense 0.994 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1343023702 2q34 2 209694398 G null D G 743 743 missense 0.998 probably damaging 0.04 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs747283189 2q34 2 209694397 A null D N 743 743 missense 0.998 probably damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153720944 2q34 2 209694402 A null D E 744 744 missense 0.996 probably damaging 0.09 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,dbSNP,dbSNP,gnomAD rs1477218364 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209694400 A null D N 744 744 missense 0.998 probably damaging 0.04 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1221961882 2q34 2 209694404 G null Y C 745 745 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1221961882 2q34 2 209694404 C null Y S 745 745 missense 0.998 probably damaging 0.05 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1246863576 2q34 2 209694407 C null L P 746 746 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1224462584 2q34 2 209694413 A null A D 748 748 missense 0.723 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs2059678962 2q34 2 209694412 A null A T 748 748 missense 0.613 possibly damaging 0.05 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,dbSNP,dbSNP rs921628169 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209694422 G null P R 751 751 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs2059680988 2q34 2 209694421 A null P T 751 751 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs142338628 2q34 2 209694424 T null A S 752 752 0.000196232 missense 0.924 probably damaging 0.4 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1319902962 2q34 2 209694431 G null E G 754 754 missense 0.569 possibly damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs768646056 2q34 2 209694436 T null A S 756 756 missense 0.238 benign 0.07 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs773830907 2q34 2 209694440 T null P L 757 757 missense 0.999 probably damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs747697884 2q34 2 209694443 T null C F 758 758 missense 0.937 probably damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs747697884 2q34 2 209694443 A null C Y 758 758 missense 0.937 probably damaging 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1426220967 2q34 2 209694445 C null F L 759 759 missense 0.987 probably damaging 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs760392717 2q34 2 209694451 A null V I 761 761 missense 0.0 benign 1.0 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs771137116 2q34 2 209694456 T null E D 762 762 missense 0.043 benign 0.4 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1330784462 2q34 2 209694458 A null S N 763 763 missense 0.009 benign 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1291166196 2q34 2 209694459 G null S R 763 763 missense 0.304 benign 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs777122773 2q34 2 209694462 C null K N 764 764 missense 0.791 possibly damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059693892 2q34 2 209694464 C null E A 765 765 missense 0.996 probably damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs151284006 2q34 2 209694463 A null E K 765 765 0.000588697 missense 0.994 probably damaging 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs752789501 2q34 2 209694469 A null E K 767 767 missense 0.009 benign 0.13 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs763082858 2q34 2 209694472 G null Q E 768 768 missense 0.001 benign 1.0 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,dbSNP,dbSNP,gnomAD rs751673408 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209694476 C null I T 769 769 missense 0.0 benign 0.57 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs764291024 2q34 2 209694475 G null I V 769 769 missense 0.0 benign 0.29 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059699208 2q34 2 209694480 T null E D 770 770 missense 0.192 benign 0.49 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs757503613 2q34 2 209694479 G null E G 770 770 missense 0.249 benign 0.3 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1331268072 2q34 2 209694488 G null K R 773 773 missense 0.94 probably damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs753718248 2q34 2 209694490 C null A P 774 774 missense 0.11 benign 0.18 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs753718248 2q34 2 209694490 A null A T 774 774 missense 0.0 benign 0.42 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs778783369 2q34 2 209694497 A null G E 776 776 missense 0.029 benign 1.0 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs778783369 2q34 2 209694497 T null G V 776 776 missense 0.304 benign 0.41 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs748106956 2q34 2 209694506 A null S N 779 779 missense 0.0 benign 0.92 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs771516717 2q34 2 209694508 T null T S 780 780 missense 0.009 benign 0.61 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein dbSNP,dbSNP,gnomAD rs1399350800 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209694514 A null A T 782 782 missense 0.012 benign 0.62 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs184529696 2q34 2 209694515 T null A V 782 782 missense 0.0 benign 0.79 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153721178 2q34 2 209694521 C null I T 784 784 missense 0.0 benign 1.0 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1376777600 2q34 2 209694523 C null S P 785 785 missense 0.0 benign 0.32 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1385137613 2q34 2 209694530 C null E A 787 787 missense 0.996 probably damaging 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1279215040 2q34 2 209694532 G null S A 788 788 missense 0.987 probably damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs770310088 2q34 2 209694539 G null F C 790 790 missense 0.816 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs763567565 2q34 2 209694549 C null K N 793 793 missense 0.685 possibly damaging 0.01 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1329767395 2q34 2 209694561 C null K N 797 797 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059713507 2q34 2 209694559 C null K Q 797 797 missense 0.997 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059715248 2q34 2 209694564 G null N K 798 798 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1202998432 2q34 2 209694563 G null N S 798 798 missense 0.994 probably damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs764202864 2q34 2 209694565 T null G C 799 799 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs906480330 2q34 2 209694566 A null G D 799 799 missense 1.0 probably damaging 0.05 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs764202864 2q34 2 209694565 C null G R 799 799 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs751726083 2q34 2 209694569 T null T I 800 800 missense 0.493 possibly damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1187763554 2q34 2 209694571 A null V I 801 801 missense 0.991 probably damaging 0.09 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1231958425 2q34 2 209694575 G null M R 802 802 missense 0.842 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059718370 2q34 2 209694574 G null M V 802 802 missense 0.277 benign 0.1 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1456067423 2q34 2 209694577 A null A T 803 803 missense 0.998 probably damaging 0.05 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1443025684 2q34 2 209694581 T null P L 804 804 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs140395814 2q34 2 209694589 T null P S 807 807 missense 0.998 probably damaging 0.05 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs141466442 2q34 2 209694596 C null M T 809 809 missense 0.975 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1174968666 2q34 2 209694602 C null D A 811 811 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs201819060 2q34 2 209694601 C null D H 811 811 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs201819060 2q34 2 209694601 A null D N 811 811 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs201819060 2q34 2 209694601 T null D Y 811 811 missense 0.999 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs752567993 2q34 2 209694604 G null L V 812 812 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs995015801 2q34 2 209694608 G null A G 813 813 missense 0.996 probably damaging 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1242685167 2q34 2 209694607 A null A T 813 813 missense 0.998 probably damaging 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs758400405 2q34 2 209694610 A null G S 814 814 missense 0.999 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs777136188 2q34 2 209694614 T null T I 815 815 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs777136188 2q34 2 209694614 G null T R 815 815 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,gnomAD rs533308612 2q34 2 209694617 T null R M 816 816 0.000196232 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1293347740 2q34 2 209694618 C null R S 816 816 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs770456408 2q34 2 209694625 G null L V 819 819 missense 0.174 benign 0.05 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153721360 2q34 2 209694638 A null S N 823 823 missense 0.994 probably damaging 0.24 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1342356324 2q34 2 209694637 C null S R 823 823 missense 0.998 probably damaging 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1218954596 2q34 2 209694640 C null A P 824 824 missense 0.984 probably damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1346421269 2q34 2 209694641 T null A V 824 824 missense 0.898 possibly damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1271747053 2q34 2 209694645 G null D E 825 825 missense 0.027 benign 0.25 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,dbSNP,dbSNP,gnomAD rs780854358 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209694644 G null D G 825 825 missense 0.719 possibly damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs370579546 2q34 2 209694643 C null D H 825 825 missense 0.922 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs370579546 2q34 2 209694643 A null D N 825 825 missense 0.755 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs745533961 2q34 2 209694646 A null A T 826 826 missense 0.017 benign 0.26 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1400973898 2q34 2 209694651 C null E D 827 827 missense 0.017 benign 0.19 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153721408 2q34 2 209694649 C null E Q 827 827 missense 0.719 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs974645338 2q34 2 209694653 A null V D 828 828 missense 0.501 possibly damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs974645338 2q34 2 209694653 G null V G 828 828 missense 0.007 benign 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs776002418 2q34 2 209694655 T null A S 829 829 missense 0.486 possibly damaging 0.03 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs749806719 2q34 2 209694656 T null A V 829 829 missense 0.779 possibly damaging 0.09 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1480327682 2q34 2 209694659 A null R K 830 830 missense 0.399 benign 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1177830571 2q34 2 209694660 T null R S 830 830 missense 0.589 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs2059745186 2q34 2 209694664 G null K E 832 832 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs370133321 2q34 2 209694673 G null P A 835 835 missense 0.924 probably damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs370133321 2q34 2 209694673 T null P S 835 835 missense 0.976 probably damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1167399216 2q34 2 209694679 A null E K 837 837 missense 0.377 benign 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs767516546 2q34 2 209694680 T null E V 837 837 missense 0.658 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs2059748862 2q34 2 209694683 G null T S 838 838 missense 0.018 benign 0.18 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1441922193 2q34 2 209694691 A null E K 841 841 missense 0.357 benign 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs765016950 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209694700 T null R C 844 844 missense 0.255 benign 0.07 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,gnomAD rs372993675 2q34 2 209694701 A null R H 844 844 missense 0.185 benign 0.06 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,gnomAD rs372993675 2q34 2 209694701 T null R L 844 844 missense 0.033 benign 0.39 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs976991247 2q34 2 209694704 A null T N 845 845 missense 0.976 probably damaging 0.05 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs758313611 2q34 2 209694711 T null L F 847 847 missense 0.984 probably damaging 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs2059755590 2q34 2 209694713 T null P L 848 848 missense 0.179 benign 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs764129795 2q34 2 209694712 T null P S 848 848 missense 0.034 benign 0.05 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1336937870 2q34 2 209694716 T null P L 849 849 missense 0.007 benign 0.1 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1336937870 2q34 2 209694716 G null P R 849 849 missense 0.326 benign 0.01 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC rs755897579 2q34 2 209694719 G null V G 850 850 missense 0.673 possibly damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs745446249 2q34 2 209694718 A null V I 850 850 missense 0.068 benign 0.14 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153721572 2q34 2 209694721 G null T A 851 851 missense 0.003 benign 0.16 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059759904 2q34 2 209694727 A null E K 853 853 missense 0.085 benign 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs956457782 2q34 2 209694730 T null N Y 854 854 missense 0.915 probably damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs749718606 2q34 2 209694733 T null H Y 855 855 missense 0.458 possibly damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,gnomAD rs544906017 2q34 2 209694737 A null V D 856 856 0.000196232 missense 0.56 possibly damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs2059762786 2q34 2 209694736 A null V I 856 856 missense 0.009 benign 0.23 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1261631293 2q34 2 209694740 C null I T 857 857 missense 0.0 benign 0.79 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs748616548 2q34 2 209694743 A null V E 858 858 missense 0.371 benign 0.11 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1371353940 2q34 2 209694746 G null K R 859 859 missense 0.994 probably damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs772124563 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209694749 T null T M 860 860 missense 0.732 possibly damaging 0.01 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs992262764 2q34 2 209694748 C null T P 860 860 missense 0.003 benign 0.12 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs760878375 2q34 2 209694752 G null D G 861 861 missense 0.901 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs766639931 2q34 2 209694754 G null S G 862 862 missense 0.017 benign 0.03 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1291566081 2q34 2 209694756 G null S R 862 862 missense 0.845 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs775238001 2q34 2 209694760 T null L F 864 864 missense 0.977 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1387257356 2q34 2 209694761 G null L R 864 864 missense 0.984 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs775238001 2q34 2 209694760 G null L V 864 864 missense 0.866 possibly damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs188844755 2q34 2 209694763 A null E K 865 865 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs188844755 2q34 2 209694763 C null E Q 865 865 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs767049779 2q34 2 209694768 G null D E 866 866 missense 0.996 probably damaging 0.54 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs757146059 2q34 2 209694767 G null D G 866 866 missense 0.998 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs757146059 2q34 2 209694767 T null D V 866 866 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059775488 2q34 2 209694776 G null Y C 869 869 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1405753105 2q34 2 209694780 G null C W 870 870 missense 0.941 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl,dbSNP,dbSNP rs1415794114 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209694786 G null F L 872 872 missense 0.987 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1358273425 2q34 2 209694789 G null N K 873 873 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,gnomAD rs528807150 2q34 2 209694788 G null N S 873 873 0.000392465 missense 0.994 probably damaging 0.25 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059779385 2q34 2 209694790 G null K E 874 874 missense 0.994 probably damaging 0.43 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1243408761 2q34 2 209694791 T null K M 874 874 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs753569560 2q34 2 209694797 A null T K 876 876 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,dbSNP,dbSNP,gnomAD rs755313015 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209694802 T null P S 878 878 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs200147409 2q34 2 209694809 T null P L 880 880 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1466262741 2q34 2 209694817 A null V I 883 883 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs748687291 2q34 2 209694826 G null S G 886 886 missense 0.335 benign 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1442973696 2q34 2 209694827 C null S T 886 886 missense 0.01 benign 0.05 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059786695 2q34 2 209694829 A null E K 887 887 missense 0.73 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs777811327 2q34 2 209694834 A null N K 888 888 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1042444990 2q34 2 209694833 G null N S 888 888 missense 0.994 probably damaging 0.16 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1458250751 2q34 2 209694837 T null L F 889 889 missense 0.794 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1166443302 2q34 2 209694839 T null S L 890 890 missense 0.453 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs747135467 2q34 2 209694841 A null G R 891 891 missense 0.986 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059792400 2q34 2 209694847 T null S C 893 893 missense 0.965 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1386378754 2q34 2 209694850 C null G R 894 894 missense 0.984 probably damaging 0.14 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,dbSNP,dbSNP rs1222693821 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209694854 T null T I 895 895 missense 0.0 benign 0.03 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,dbSNP,dbSNP,gnomAD rs545513549 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209694862 A null E K 898 898 missense 0.664 possibly damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs776561966 2q34 2 209694865 T null G C 899 899 missense 0.984 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs776561966 2q34 2 209694865 A null G S 899 899 missense 0.296 benign 0.05 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs768427991 2q34 2 209694866 T null G V 899 899 missense 0.956 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs2059799137 2q34 2 209694869 T null T I 900 900 missense 0.227 benign 0.1 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1341372620 2q34 2 209694875 G null D G 902 902 missense 0.901 possibly damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,dbSNP,dbSNP,gnomAD rs1228272450 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209694874 A null D N 902 902 missense 0.916 probably damaging 0.02 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs761796820 2q34 2 209694878 C null K T 903 903 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1331834246 2q34 2 209694880 T null V F 904 904 missense 0.111 benign 0.01 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153721902 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 2q34 2 209694883 T null R * 905 905 missense 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs767611221 2q34 2 209694884 T null R L 905 905 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs767611221 2q34 2 209694884 A null R Q 905 905 missense 0.996 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs749921089 2q34 2 209694886 G null R G 906 906 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059805151 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209694895 T null A S 909 909 missense 0.947 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs2059805771 2q34 2 209694898 G null T A 910 910 missense 0.025 benign 0.57 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1183779037 2q34 2 209694903 A null D E 911 911 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs931297560 2q34 2 209694901 C null D H 911 911 missense 0.999 probably damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs375700439 2q34 2 209694905 C null L P 912 912 missense 0.999 probably damaging 0.16 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein dbSNP,dbSNP,gnomAD rs1424119999 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209694908 T null S L 913 913 missense 0.996 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs779327003 2q34 2 209694911 C null L P 914 914 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1458724501 2q34 2 209694919 A null V M 917 917 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1337888612 2q34 2 209694925 G null L V 919 919 missense 0.996 probably damaging 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs759417945 2q34 2 209694929 T null A V 920 920 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs868751427 2q34 2 209694932 A null A E 921 921 missense 0.998 probably damaging 0.08 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs758909834 2q34 2 209694935 A null A D 922 922 missense 0.984 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs142105837 2q34 2 209694937 A null G R 923 923 missense 0.957 probably damaging 0.08 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs770935951 2q34 2 209694941 A null R K 924 924 missense 0.072 benign 0.99 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs781250009 2q34 2 209694944 A null V D 925 925 missense 0.871 possibly damaging 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1351429245 2q34 2 209694943 A null V I 925 925 missense 0.727 possibly damaging 0.42 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1460832921 2q34 2 209694947 C null K T 926 926 missense 0.808 possibly damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059819524 2q34 2 209694950 G null D G 927 927 missense 0.472 possibly damaging 0.11 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1292397313 2q34 2 209694954 T null E D 928 928 missense 0.025 benign 0.16 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,gnomAD rs551612963 2q34 2 209694953 G null E G 928 928 0.000196232 missense 0.631 possibly damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs563631404 2q34 2 209694958 G null S G 930 930 missense 0.0 benign 0.42 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1283241846 2q34 2 209694959 A null S N 930 930 missense 0.052 benign 0.37 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153722063 2q34 2 209694977 T null S F 936 936 missense 0.455 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs763603161 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209694979 A null A T 937 937 missense 0.01 benign 0.34 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1559588558 2q34 2 209694980 T null A V 937 937 missense 0.007 benign 0.24 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs773227871 2q34 2 209694984 A null H Q 938 938 missense 0.029 benign 0.48 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059826680 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209694983 G null H R 938 938 missense 0.014 benign 0.29 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1194337408 2q34 2 209694982 T null H Y 938 938 missense 0.029 benign 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs760693839 2q34 2 209694985 G null I V 939 939 missense 0.0 benign 0.69 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs141654180 2q34 2 209694988 G null S A 940 940 missense 0.003 benign 0.19 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs141654180 2q34 2 209694988 A null S T 940 940 missense 0.089 benign 0.34 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059829421 2q34 2 209694992 A null G D 941 941 missense 0.056 benign 0.15 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059830623 2q34 2 209694994 A null D N 942 942 missense 0.382 benign 0.08 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs2059831238 2q34 2 209695000 A null S T 944 944 missense 0.102 benign 0.16 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs147371599 2q34 2 209695004 T null G V 945 945 missense 0.019 benign 0.53 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs764453874 2q34 2 209695010 T null S I 947 947 missense 0.023 benign 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs764453874 2q34 2 209695010 A null S N 947 947 missense 0.078 benign 0.21 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1305822449 2q34 2 209695012 C null K Q 948 948 missense 0.12 benign 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs775061918 2q34 2 209695019 G null F C 950 950 missense 0.624 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1260565938 2q34 2 209695018 A null F I 950 950 missense 0.034 benign 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059838703 2q34 2 209695020 G null F L 950 950 missense 0.0 benign 0.18 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs775061918 2q34 2 209695019 C null F S 950 950 missense 0.005 benign 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs775061918 2q34 2 209695019 A null F Y 950 950 missense 0.003 benign 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153722171 2q34 2 209695023 A null D E 951 951 missense 0.027 benign 1.0 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1410834269 2q34 2 209695025 G null Q R 952 952 missense 0.129 benign 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1294350168 2q34 2 209695028 G null E G 953 953 missense 0.45 possibly damaging 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs373966847 2q34 2 209695027 A null E K 953 953 missense 0.369 benign 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs373966847 2q34 2 209695027 C null E Q 953 953 missense 0.723 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059841543 2q34 2 209695030 G null K E 954 954 missense 0.007 benign 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059842200 2q34 2 209695037 G null A G 956 956 missense 0.007 benign 0.13 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1366099301 2q34 2 209695040 G null N S 957 957 missense 0.0 benign 0.53 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1028903030 2q34 2 209695043 G null D G 958 958 missense 0.719 possibly damaging 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs781235582 2q34 2 209695046 A null R K 959 959 missense 0.0 benign 1.0 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs781235582 2q34 2 209695046 T null R M 959 959 missense 0.449 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs756328546 2q34 2 209695047 T null R S 959 959 missense 0.038 benign 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1307045376 2q34 2 209695050 T null L F 960 960 missense 0.999 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs965717219 2q34 2 209695052 T null D V 961 961 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1369338690 2q34 2 209695057 A null V I 963 963 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs749539085 2q34 2 209695061 C null L P 964 964 missense 0.999 probably damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1482462999 2q34 2 209695063 T null E * 965 965 stop gained 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1205591090 2q34 2 209695064 G null E G 965 965 missense 0.997 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,dbSNP,dbSNP,gnomAD rs773209563 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209695068 T null K N 966 966 missense 0.997 probably damaging 0.03 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs377222605 2q34 2 209695069 G null S G 967 967 missense 0.005 benign 0.1 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059852100 2q34 2 209695073 G null E G 968 968 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1425198754 2q34 2 209695075 A null E K 969 969 missense 0.825 possibly damaging 0.04 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1418155231 2q34 2 209695080 A null H Q 970 970 missense 0.005 benign 1.0 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1427439768 2q34 2 209695086 A null D E 972 972 missense 0.01 benign 0.1 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059854559 2q34 2 209695085 T null D V 972 972 missense 0.45 possibly damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs13425372 2q34 2 209695097 T null H L 976 976 0.0123626 missense 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs774944609 2q34 2 209695098 G null H Q 976 976 missense 0.005 benign 0.3 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs758933497 2q34 2 209695096 T null H Y 976 976 missense 0.003 benign 1.0 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1372597773 2q34 2 209695100 G null A G 977 977 missense 0.003 benign 0.18 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1294658250 2q34 2 209695102 G null K E 978 978 missense 0.007 benign 0.34 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,gnomAD rs200573921 2q34 2 209695117 C null A P 983 983 0.000196232 missense 0.673 possibly damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,gnomAD rs200573921 2q34 2 209695117 A null A T 983 983 0.000196232 missense 0.184 benign 0.18 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein ESP rs375248306 2q34 2 209695118 T null A V 983 983 missense 0.007 benign 0.31 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1299983560 2q34 2 209695121 A null G D 984 984 missense 0.001 benign 0.67 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs966791068 2q34 2 209695120 C null G R 984 984 missense 0.12 benign 0.48 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1299983560 2q34 2 209695121 T null G V 984 984 missense 0.003 benign 0.41 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs978133298 2q34 2 209695125 A null D E 985 985 missense 0.003 benign 0.45 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs377375608 2q34 2 209695124 G null D G 985 985 missense 0.003 benign 0.17 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,gnomAD rs147736799 2q34 2 209695130 C null I T 987 987 0.000196232 missense 0.001 benign 0.18 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,gnomAD rs545323087 2q34 2 209695134 C null E D 988 988 0.000196232 missense 0.009 benign 0.16 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1190963906 2q34 2 209695132 A null E K 988 988 missense 0.015 benign 0.44 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs368543818 2q34 2 209695135 G null T A 989 989 missense 0.0 benign 0.57 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs756090589 2q34 2 209695136 T null T I 989 989 missense 0.014 benign 0.13 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs756090589 2q34 2 209695136 A null T K 989 989 missense 0.024 benign 0.42 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs35927101 2q34 2 209695141 A null G R 991 991 missense 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1048917826 2q34 2 209695147 A null G R 993 993 missense 0.614 possibly damaging 0.14 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs2059871643 2q34 2 209695148 T null G V 993 993 missense 0.354 benign 0.12 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1182655484 2q34 2 209695151 A null V E 994 994 missense 0.024 benign 0.23 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059872937 2q34 2 209695154 T null T I 995 995 missense 0.003 benign 0.12 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs777692339 2q34 2 209695157 G null Y C 996 996 missense 0.404 benign 0.09 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs755310702 2q34 2 209695156 A null Y N 996 996 missense 0.024 benign 0.17 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153722430 2q34 2 209695159 A null E K 997 997 missense 0.003 benign 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059875368 2q34 2 209695164 T null Q H 998 998 missense 0.003 benign 0.3 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs746843048 2q34 2 209695166 A null A D 999 999 missense 0.286 benign 0.25 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs746843048 2q34 2 209695166 G null A G 999 999 missense 0.113 benign 0.16 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1241014036 2q34 2 209695165 T null A S 999 999 missense 0.056 benign 0.6 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1456153993 2q34 2 209695170 T null L F 1000 1000 missense 0.001 benign 0.7 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1345095526 2q34 2 209695168 G null L V 1000 1000 missense 0.038 benign 0.52 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs770886225 2q34 2 209695172 A null A D 1001 1001 missense 0.003 benign 0.08 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs776387809 2q34 2 209695174 G null K E 1002 1002 missense 0.056 benign 0.18 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1313579917 2q34 2 209695175 C null K T 1002 1002 missense 0.007 benign 0.18 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs146804096 2q34 2 209695178 T null D V 1003 1003 missense 0.003 benign 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs769115243 2q34 2 209695180 G null L V 1004 1004 missense 0.077 benign 0.43 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs917687311 2q34 2 209695188 G null I M 1006 1006 missense 0.09 benign 0.22 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs901574573 2q34 2 209695186 G null I V 1006 1006 missense 0.0 benign 1.0 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs200048191 2q34 2 209695189 G null P A 1007 1007 missense 0.0 benign 0.81 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs762578429 2q34 2 209695190 T null P L 1007 1007 missense 0.014 benign 0.15 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs762578429 2q34 2 209695190 A null P Q 1007 1007 missense 0.138 benign 0.25 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs200048191 2q34 2 209695189 A null P T 1007 1007 missense 0.001 benign 0.62 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1328347789 2q34 2 209695193 T null T I 1008 1008 missense 0.024 benign 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1328347789 2q34 2 209695193 G null T R 1008 1008 missense 0.009 benign 0.1 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs763783190 2q34 2 209695202 T null S F 1011 1011 missense 0.035 benign 0.08 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1464964832 2q34 2 209695205 T null S F 1012 1012 missense 0.0 benign 0.11 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1480080956 2q34 2 209695211 G null K R 1014 1014 missense 0.003 benign 0.08 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150454433 2q34 2 209695222 C null G R 1018 1018 0.000196232 missense 0.479 possibly damaging 0.54 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150454433 2q34 2 209695222 A null G S 1018 1018 0.000196232 missense 0.012 benign 0.84 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149636178 2q34 2 209695228 G null S G 1020 1020 missense 0.003 benign 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1473604717 2q34 2 209695229 T null S I 1020 1020 missense 0.171 benign 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1182776287 2q34 2 209695230 G null S R 1020 1020 missense 0.477 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1022475497 2q34 2 209695232 T null S L 1021 1021 missense 0.791 possibly damaging 0.36 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs750830083 2q34 2 209695235 C null V A 1022 1022 missense 0.347 benign 0.08 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,gnomAD rs187200977 2q34 2 209695234 T null V L 1022 1022 0.000196232 missense 0.506 possibly damaging 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,gnomAD rs187200977 2q34 2 209695234 A null V M 1022 1022 0.000196232 missense 0.937 probably damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059898355 2q34 2 209695237 G null P A 1023 1023 missense 0.682 possibly damaging 0.11 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1389384160 2q34 2 209695238 T null P L 1023 1023 missense 0.116 benign 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1332379425 2q34 2 209695245 G null I M 1025 1025 missense 0.001 benign 0.08 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs766357949 2q34 2 209695244 C null I T 1025 1025 missense 0.0 benign 0.05 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147381270 2q34 2 209695250 G null E G 1027 1027 0.000588697 missense 0.773 possibly damaging 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs2059901184 2q34 2 209695252 A null V I 1028 1028 missense 0.121 benign 0.79 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs755222924 2q34 2 209695259 A null P Q 1030 1030 missense 0.028 benign 0.14 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059901739 2q34 2 209695258 T null P S 1030 1030 missense 0.019 benign 0.22 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1419003734 2q34 2 209695264 C null K Q 1032 1032 missense 0.057 benign 0.59 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs2059903249 2q34 2 209695268 C null K T 1033 1033 missense 0.163 benign 0.05 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC rs202024964 2q34 2 209695270 A null V M 1034 1034 0.000196232 missense 0.003 benign 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs752994002 2q34 2 209695275 T null E D 1035 1035 missense 0.003 benign 0.23 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs756947989 2q34 2 209695276 G null Q E 1036 1036 missense 0.015 benign 0.5 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs745784204 2q34 2 209695280 A null G D 1037 1037 missense 0.056 benign 1.0 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs556888204 2q34 2 209695282 G null L V 1038 1038 missense 0.426 benign 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1329186959 2q34 2 209695286 G null D G 1039 1039 missense 0.608 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1405194156 2q34 2 209695285 A null D N 1039 1039 missense 0.652 possibly damaging 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs867449515 2q34 2 209695289 C null F S 1040 1040 missense 0.024 benign 0.41 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs769825205 2q34 2 209695291 C null A P 1041 1041 missense 0.001 benign 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs769825205 2q34 2 209695291 T null A S 1041 1041 missense 0.009 benign 0.04 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1275945814 2q34 2 209695292 T null A V 1041 1041 missense 0.001 benign 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1200477865 2q34 2 209695294 A null V I 1042 1042 missense 0.007 benign 0.14 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1200477865 2q34 2 209695294 C null V L 1042 1042 missense 0.005 benign 0.09 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs201382010 2q34 2 209695298 G null Q R 1043 1043 missense 0.089 benign 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1253840245 2q34 2 209695301 A null G D 1044 1044 missense 0.056 benign 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1253840245 2q34 2 209695301 T null G V 1044 1044 missense 0.082 benign 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1209734477 2q34 2 209695303 A null Q K 1045 1045 missense 0.038 benign 0.29 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs768185810 2q34 2 209695306 A null L I 1046 1046 missense 0.0 benign 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs768185810 2q34 2 209695306 G null L V 1046 1046 missense 0.0 benign 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1353729149 2q34 2 209695317 T null K N 1049 1049 missense 0.082 benign 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1335081629 2q34 2 209695321 C null S R 1051 1051 missense 0.783 possibly damaging 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059917761 2q34 2 209695338 T null M I 1056 1056 missense 0.0 benign 0.25 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059917222 2q34 2 209695337 A null M K 1056 1056 missense 0.038 benign 0.14 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1035140499 2q34 2 209695336 T null M L 1056 1056 missense 0.006 benign 0.95 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs772320146 2q34 2 209695339 A null A T 1057 1057 missense 0.003 benign 0.17 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs773685415 2q34 2 209695340 T null A V 1057 1057 missense 0.089 benign 0.21 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs761065678 2q34 2 209695342 A null S T 1058 1058 missense 0.038 benign 0.22 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1444363596 2q34 2 209695346 A null G E 1059 1059 missense 0.015 benign 0.09 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1377100915 2q34 2 209695348 A null L I 1060 1060 missense 0.238 benign 0.1 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs754430555 2q34 2 209695351 G null N D 1061 1061 missense 0.0 benign 1.0 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs759644376 2q34 2 209695355 A null I K 1062 1062 missense 0.103 benign 0.99 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1407795840 2q34 2 209695354 C null I L 1062 1062 missense 0.0 benign 0.38 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,gnomAD rs201420432 2q34 2 209695356 G null I M 1062 1062 0.000392465 missense 0.12 benign 0.13 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs759644376 2q34 2 209695355 G null I R 1062 1062 missense 0.268 benign 0.57 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs759644376 2q34 2 209695355 C null I T 1062 1062 missense 0.038 benign 0.61 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1407795840 2q34 2 209695354 G null I V 1062 1062 missense 0.0 benign 0.38 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs758709004 2q34 2 209695358 G null D G 1063 1063 missense 0.083 benign 0.16 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059925235 2q34 2 209695360 C null D H 1064 1064 missense 0.005 benign 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1583702459 2q34 2 209695363 G null R G 1065 1065 missense 0.0 benign 0.44 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1583702552 2q34 2 209695369 A null A T 1067 1067 missense 0.0 benign 0.34 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1272562826 2q34 2 209695372 G null T A 1068 1068 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,gnomAD rs200163105 2q34 2 209695376 G null E G 1069 1069 0.000196232 missense 0.217 benign 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,TOPMed,gnomAD rs376509566 2q34 2 209695379 A null L Q 1070 1070 missense 0.056 benign 0.55 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl,dbSNP,dbSNP rs576483648 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209695385 G null L R 1072 1072 missense 0.077 benign 0.68 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059930431 2q34 2 209695387 C null E Q 1073 1073 missense 0.023 benign 0.35 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199753872 2q34 2 209695390 C null A P 1074 1074 0.000196232 missense 0.477 possibly damaging 0.22 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199753872 2q34 2 209695390 A null A T 1074 1074 0.000196232 missense 0.014 benign 0.46 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs749246513 2q34 2 209695393 G null T A 1075 1075 missense 0.0 benign 0.45 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059932130 2q34 2 209695396 G null Q E 1076 1076 missense 0.158 benign 0.08 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1253037600 2q34 2 209695397 G null Q R 1076 1076 missense 0.356 benign 0.09 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs768096009 2q34 2 209695399 C null D H 1077 1077 missense 0.396 benign 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs768096009 2q34 2 209695399 A null D N 1077 1077 missense 0.06 benign 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059936536 2q34 2 209695404 C null M I 1078 1078 missense 0.006 benign 0.31 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs747743281 2q34 2 209695403 C null M T 1078 1078 missense 0.007 benign 0.55 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1190256939 2q34 2 209695402 G null M V 1078 1078 missense 0.006 benign 0.33 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs771807994 2q34 2 209695406 T null T I 1079 1079 missense 0.0 benign 0.13 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs771807994 2q34 2 209695406 A null T N 1079 1079 missense 0.024 benign 0.01 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059937141 2q34 2 209695405 T null T S 1079 1079 missense 0.015 benign 0.02 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs771807994 2q34 2 209695406 G null T S 1079 1079 missense 0.015 benign 0.02 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes rs567140442 2q34 2 209695408 G null P A 1080 1080 0.000196232 missense 0.038 benign 0.64 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs761064797 2q34 2 209695409 T null P L 1080 1080 missense 0.0 benign 0.81 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1186651848 2q34 2 209695412_209695426 l null SSKAPQ * 1081 1086 stop gained 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1170252000 2q34 2 209695415 T null S F 1082 1082 missense 0.439 benign 0.03 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059943429 2q34 2 209695418 G null K R 1083 1083 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153722967 2q34 2 209695421 A null A E 1084 1084 missense 0.001 benign 1.0 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs780094818 2q34 2 209695424 T null P L 1085 1085 missense 0.832 possibly damaging 0.03 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs780094818 2q34 2 209695424 G null P R 1085 1085 missense 0.934 probably damaging 0.0 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1371003740 2q34 2 209695423 T null P S 1085 1085 missense 0.679 possibly damaging 0.15 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,dbSNP,dbSNP rs1246870214 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209695427 T null Q L 1086 1086 missense 0.038 benign 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1321513673 2q34 2 209695436 G null D G 1089 1089 missense 0.003 benign 0.02 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,dbSNP,dbSNP,gnomAD rs777224477 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209695438 A null A T 1090 1090 missense 0.005 benign 0.15 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1296295852 2q34 2 209695442 A null F Y 1091 1091 missense 0.602 possibly damaging 0.08 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs760129218 2q34 2 209695444 T null M L 1092 1092 missense 0.0 benign 0.86 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs139654422 2q34 2 209695448 C null G A 1093 1093 missense 0.05 benign 0.32 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs139654422 2q34 2 209695448 T null G V 1093 1093 missense 0.007 benign 0.17 tolerated - low confidence 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1275778751 2q34 2 209695451 G null V G 1094 1094 missense 0.038 benign 0.0 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs775767305 2q34 2 209695462 A null H N 1098 1098 missense 0.038 benign 0.02 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs763061078 2q34 2 209695463 G null H R 1098 1098 missense 0.056 benign 0.03 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs17745550 2q34 2 209695465 G null M V 1099 1099 0.0351256 missense 1 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,TOPMed,gnomAD rs566680319 2q34 2 209695472 C null E A 1101 1101 0.000196232 missense 0.307 benign 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1391936810 2q34 2 209695475 A null G D 1102 1102 missense 0.738 possibly damaging 0.09 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs751759137 2q34 2 209695474 A null G S 1102 1102 missense 0.042 benign 0.98 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs143781991 2q34 2 209695480 G null K E 1104 1104 missense 0.369 benign 0.0 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs143781991 2q34 2 209695480 C null K Q 1104 1104 missense 0.574 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1030946988 2q34 2 209695484 C null V A 1105 1105 missense 0.003 benign 0.14 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,gnomAD rs2059960284 2q34 2 209695483 T null V F 1105 1105 missense 0.397 benign 0.01 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,gnomAD rs2059960284 2q34 2 209695483 A null V I 1105 1105 missense 0.089 benign 0.01 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs753771903 2q34 2 209695490 G null E G 1107 1107 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1392765795 2q34 2 209695498 A null V I 1110 1110 missense 0.001 benign 1.0 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2059964209 2q34 2 209695501_209695502insCTAATTTTAACA T null K TNFNI* 1111 1111 stop gained 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1013243305 2q34 2 209695513 T null A S 1115 1115 missense 0.369 benign 0.04 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1477870192 2q34 2 209695514 T null A V 1115 1115 missense 0.369 benign 0.03 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1319297931 2q34 2 209695520 G null P R 1117 1117 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs777436815 2q34 2 209695562 G null Y C 1131 1131 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs866552451 2q34 2 209695568 T null S F 1133 1133 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs200010488 2q34 2 209695570 G null S G 1134 1134 missense 0.987 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1243093600 2q34 2 209695574 T null G V 1135 1135 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1357672067 2q34 2 209695577 G null E G 1136 1136 missense 0.966 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs746360359 2q34 2 209695594 G null M V 1142 1142 missense 0.499 possibly damaging 0.25 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs770469687 2q34 2 209695598 T null E V 1143 1143 missense 0.976 probably damaging 0.0 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1422337434 2q34 2 209695601 G null S C 1144 1144 missense 0.915 probably damaging 0.01 deleterious - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs770959864 2q34 2 209695600 C null S P 1144 1144 missense 0.017 benign 0.1 tolerated - low confidence 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153723258 2q34 2 209695609 C null A P 1147 1147 missense 0.0 benign 1.0 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs144069172 2q34 2 209695610 T null A V 1147 1147 missense 0.148 benign 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1050102021 2q34 2 209695618 T null G C 1150 1150 missense 0.83 possibly damaging 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1158352299 2q34 2 209695619 T null G V 1150 1150 missense 0.033 benign 0.2 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs774574336 2q34 2 209695627 A null E K 1153 1153 missense 0.994 probably damaging 0.01 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1418762566 2q34 2 209695630 G null T A 1154 1154 missense 0.007 benign 0.37 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,gnomAD rs200843201 2q34 2 209695631 T null T I 1154 1154 0.000196232 missense 0.08 benign 0.51 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2059987164 2q34 2 209695645 C null S P 1159 1159 missense 0.006 benign 0.52 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs766148697 2q34 2 209695655 C null Q P 1162 1162 missense 0.011 benign 0.1 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs766148697 2q34 2 209695655 G null Q R 1162 1162 missense 0.426 benign 0.25 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1331943551 2q34 2 209695658 C null D A 1163 1163 missense 0.316 benign 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs765121359 2q34 2 209695669 A null V I 1167 1167 missense 0.0 benign 1.0 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs752601755 2q34 2 209695672 C null K Q 1168 1168 missense 0.783 possibly damaging 0.83 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1331264274 2q34 2 209695679 T null S L 1170 1170 missense 0.011 benign 0.12 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs757869881 2q34 2 209695681 C null V L 1171 1171 missense 0.125 benign 0.08 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,dbSNP,dbSNP,gnomAD rs757869881 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209695681 A null V M 1171 1171 missense 0.75 possibly damaging 0.11 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,gnomAD rs573905876 2q34 2 209695686 T null E D 1172 1172 0.000196232 missense 0.883 possibly damaging 0.05 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1402645623 2q34 2 209695685 G null E G 1172 1172 missense 0.884 possibly damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,dbSNP,dbSNP,gnomAD rs201672675 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209695689 G null I M 1173 1173 missense 0.285 benign 0.04 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs781670221 2q34 2 209695691 T null P L 1174 1174 missense 0.029 benign 0.39 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs757023262 2q34 2 209695690 T null P S 1174 1174 missense 0.052 benign 0.18 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs770310310 2q34 2 209695696 T null P S 1176 1176 missense 0.056 benign 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,gnomAD rs559389938 2q34 2 209695699 T null P S 1177 1177 0.000196232 missense 0.015 benign 0.28 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs749772384 2q34 2 209695703 T null A V 1178 1178 missense 0.003 benign 0.45 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs2060001578 2q34 2 209695705 C null V L 1179 1179 missense 0.006 benign 0.2 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs774353080 2q34 2 209695708 G null S A 1180 1180 missense 0.169 benign 0.1 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1474873497 2q34 2 209695714 A null A T 1182 1182 missense 0.159 benign 0.08 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs762002481 2q34 2 209695717 A null D N 1183 1183 missense 0.173 benign 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1192269208 2q34 2 209695720 G null L V 1184 1184 missense 0.0 benign 0.38 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs772322040 2q34 2 209695726 G null T A 1186 1186 missense 0.0 benign 0.9 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1559594264 2q34 2 209695730 G null D G 1187 1187 missense 0.038 benign 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1306619184 2q34 2 209695729 A null D N 1187 1187 missense 0.052 benign 0.03 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1352836829 2q34 2 209695734 C null E D 1188 1188 missense 0.189 benign 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1392547835 2q34 2 209695737 T null R S 1189 1189 missense 0.007 benign 0.18 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs773456719 2q34 2 209695738 C null A P 1190 1190 missense 0.011 benign 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC rs759280255 2q34 2 209695744 A null V I 1192 1192 missense 0.023 benign 1.0 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1310529584 2q34 2 209695749 T null Q H 1193 1193 missense 0.965 probably damaging 0.01 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs202122082 2q34 2 209695751 A null M K 1194 1194 missense 0.356 benign 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs765033381 2q34 2 209695750 T null M L 1194 1194 missense 0.001 benign 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs202122082 2q34 2 209695751 C null M T 1194 1194 missense 0.223 benign 0.05 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs765033381 2q34 2 209695750 G null M V 1194 1194 missense 0.056 benign 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,gnomAD rs141235153 2q34 2 209695754 C null E A 1195 1195 missense 0.996 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2060013881 2q34 2 209695759 T null I F 1197 1197 missense 0.597 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,TOPMed,gnomAD rs370180460 2q34 2 209695766 A null G E 1199 1199 missense 0.0 benign 0.98 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2060014526 2q34 2 209695765 A null G R 1199 1199 missense 0.024 benign 0.54 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,TOPMed,gnomAD rs370180460 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209695766 T null G V 1199 1199 missense 0.015 benign 0.36 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1023609507 2q34 2 209695768 G null P A 1200 1200 missense 0.898 possibly damaging 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1265977681 2q34 2 209695769 T null P L 1200 1200 missense 0.977 probably damaging 0.14 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1265977681 2q34 2 209695769 G null P R 1200 1200 missense 0.977 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs780949649 2q34 2 209695771 G null K E 1201 1201 missense 0.021 benign 0.27 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs143629615 2q34 2 209695774 A null E K 1202 1202 missense 0.654 possibly damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs143629615 2q34 2 209695774 C null E Q 1202 1202 missense 0.876 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs756487671 2q34 2 209695779 T null E D 1203 1203 missense 0.009 benign 0.3 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1395289086 2q34 2 209695777 A null E K 1203 1203 missense 0.238 benign 0.14 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,gnomAD rs200150779 2q34 2 209695781 A null S N 1204 1204 missense 0.297 benign 0.24 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl,dbSNP,dbSNP rs952017696 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209695782 G null S R 1204 1204 missense 0.574 possibly damaging 0.16 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2060023646 2q34 2 209695783 G null K E 1205 1205 missense 0.005 benign 1.0 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1340513019 2q34 2 209695784 G null K R 1205 1205 missense 0.003 benign 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs749797441 2q34 2 209695788 C null E D 1206 1206 missense 0.223 benign 0.05 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1217118166 2q34 2 209695790 A null T N 1207 1207 missense 0.477 possibly damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2060026302 2q34 2 209695789 T null T S 1207 1207 missense 0.089 benign 0.14 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs769092768 2q34 2 209695793 A null P Q 1208 1208 missense 0.968 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs769092768 2q34 2 209695793 G null P R 1208 1208 missense 0.977 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,gnomAD rs565324625 2q34 2 209695796 G null D G 1209 1209 0.000196232 missense 0.017 benign 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs2060029117 2q34 2 209695795 C null D H 1209 1209 missense 0.915 probably damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1304314343 2q34 2 209695799 C null I T 1210 1210 missense 0.087 benign 0.72 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein dbSNP,dbSNP,gnomAD rs1388612630 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209695798 G null I V 1210 1210 missense 0.289 benign 0.29 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,gnomAD rs139321161 2q34 2 209695802 A null S Y 1211 1211 missense 0.67 possibly damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs773367052 2q34 2 209695808 T null T M 1213 1213 missense 0.671 possibly damaging 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,dbSNP,dbSNP,gnomAD rs932744669 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209695817 T null D V 1216 1216 missense 0.842 possibly damaging 0.03 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs775210568 2q34 2 209695820 C null V A 1217 1217 missense 0.151 benign 0.17 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs775210568 2q34 2 209695820 G null V G 1217 1217 missense 0.836 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1402385905 2q34 2 209695822 T null A S 1218 1218 missense 0.001 benign 0.13 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1205089673 2q34 2 209695827 C null E D 1219 1219 missense 0.369 benign 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs765112081 2q34 2 209695835 C null H P 1222 1222 missense 0.0 benign 0.86 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs765112081 2q34 2 209695835 G null H R 1222 1222 missense 0.061 benign 0.41 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145228580 2q34 2 209695838 G null E G 1223 1223 0.000196232 missense 0.25 benign 0.19 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs149194467 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209695841 T null T M 1224 1224 missense 0.003 benign 0.03 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs761356213 2q34 2 209695840 T null T S 1224 1224 missense 0.0 benign 0.24 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs374394903 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209695846 A null V I 1226 1226 missense 0.0 benign 0.35 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs374394903 2q34 2 209695846 T null V L 1226 1226 missense 0.001 benign 0.32 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs754195258 2q34 2 209695862 G null E G 1231 1231 missense 0.089 benign 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs755403086 2q34 2 209695867 G null Q E 1233 1233 missense 0.0 benign 1.0 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1326654296 2q34 2 209695868 G null Q R 1233 1233 missense 0.0 benign 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs2060045645 2q34 2 209695870 G null S G 1234 1234 missense 0.0 benign 0.26 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153723712 2q34 2 209695871 A null S N 1234 1234 missense 0.0 benign 0.29 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1433090066 2q34 2 209695885 C null I L 1239 1239 missense 0.003 benign 0.3 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1221748114 2q34 2 209695887 G null I M 1239 1239 missense 0.492 possibly damaging 0.1 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs200437236 2q34 2 209695886 G null I R 1239 1239 missense 0.222 benign 0.44 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs200437236 2q34 2 209695886 C null I T 1239 1239 missense 0.155 benign 0.48 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,dbSNP,dbSNP,gnomAD rs777899876 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209695888 C null E Q 1240 1240 missense 0.997 probably damaging 0.33 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs367929783 2q34 2 209695894 A null Q K 1242 1242 missense 0.006 benign 0.55 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl,dbSNP,dbSNP rs200382253 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209695895 G null Q R 1242 1242 missense 0.0 benign 0.83 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1319850197 2q34 2 209695898 A null G E 1243 1243 missense 0.885 possibly damaging 0.33 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,gnomAD rs550987596 2q34 2 209695897 A null G R 1243 1243 0.000196232 missense 0.921 probably damaging 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2060053501 2q34 2 209695904 C null Y S 1245 1245 missense 0.058 benign 0.84 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs748992786 2q34 2 209695906 A null D N 1246 1246 missense 0.966 probably damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs748992786 2q34 2 209695906 T null D Y 1246 1246 missense 0.988 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,gnomAD rs374935033 2q34 2 209695912 G null L V 1248 1248 missense 0.802 possibly damaging 0.25 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1195524947 2q34 2 209695916 G null L R 1249 1249 missense 0.777 possibly damaging 0.59 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,gnomAD rs529670498 2q34 2 209695920 A null F L 1250 1250 0.000196232 missense 0.023 benign 0.6 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs892820823 2q34 2 209695918 G null F V 1250 1250 missense 0.447 possibly damaging 0.13 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141848998 2q34 2 209695921 T null R C 1251 1251 missense 0.915 probably damaging 0.04 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142649637 2q34 2 209695922 A null R H 1251 1251 missense 0.915 probably damaging 0.1 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1426018790 2q34 2 209695925 T null S L 1252 1252 missense 0.913 probably damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs2060063037 2q34 2 209695928 G null D G 1253 1253 missense 0.472 possibly damaging 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs753552732 2q34 2 209695931 T null T I 1254 1254 missense 0.065 benign 0.08 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs753552732 2q34 2 209695931 A null T N 1254 1254 missense 0.88 possibly damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2060066110 2q34 2 209695933 T null L F 1255 1255 missense 0.954 probably damaging 0.5 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs753201638 2q34 2 209695934 C null L P 1255 1255 missense 0.07 benign 0.38 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1432449847 2q34 2 209695937 T null Q L 1256 1256 missense 0.751 possibly damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1374547243 2q34 2 209695947 A null D E 1259 1259 missense 0.42 benign 0.24 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs758965405 2q34 2 209695948 A null L M 1260 1260 missense 0.602 possibly damaging 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs760380351 2q34 2 209695949 C null L P 1260 1260 missense 0.756 possibly damaging 0.05 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs904913077 2q34 2 209695952 A null G D 1261 1261 missense 0.424 benign 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs904913077 2q34 2 209695952 T null G V 1261 1261 missense 0.007 benign 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1405618249 2q34 2 209695955 G null V G 1262 1262 missense 0.027 benign 0.28 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1234987773 2q34 2 209695960 T null G C 1264 1264 missense 0.732 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1000181156 2q34 2 209695961 A null G D 1264 1264 missense 0.089 benign 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1234987773 2q34 2 209695960 A null G S 1264 1264 missense 0.007 benign 0.11 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2060075149 2q34 2 209695963 A null A T 1265 1265 missense 0.024 benign 0.08 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2060075745 2q34 2 209695969 A null E K 1267 1267 missense 0.918 probably damaging 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2060075745 2q34 2 209695969 C null E Q 1267 1267 missense 0.963 probably damaging 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1293865018 2q34 2 209695973 G null E G 1268 1268 missense 0.353 benign 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs777813430 2q34 2 209695975 C null F L 1269 1269 missense 0.0 benign 0.94 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2060077557 2q34 2 209695976 C null F S 1269 1269 missense 0.015 benign 0.34 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1226011473 2q34 2 209695982 C null E A 1271 1271 missense 0.429 benign 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1285789622 2q34 2 209695983 T null E D 1271 1271 missense 0.506 possibly damaging 0.05 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs747127635 2q34 2 209695984 G null T A 1272 1272 missense 0.001 benign 0.79 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2060080019 2q34 2 209695985 T null T I 1272 1272 missense 0.054 benign 0.19 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2060080019 2q34 2 209695985 A null T N 1272 1272 missense 0.356 benign 0.42 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1026761036 2q34 2 209695988 T null C F 1273 1273 missense 0.471 possibly damaging 0.05 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs757386672 2q34 2 209695987 C null C R 1273 1273 missense 0.392 benign 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs757386672 2q34 2 209695987 A null C S 1273 1273 missense 0.007 benign 0.56 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1026761036 2q34 2 209695988 A null C Y 1273 1273 missense 0.568 possibly damaging 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1236024310 2q34 2 209695991 A null P Q 1274 1274 missense 0.811 possibly damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1486877170 2q34 2 209695994 T null S I 1275 1275 missense 0.0 benign 0.14 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2060084100 2q34 2 209696000 G null H R 1277 1277 missense 0.003 benign 0.36 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2060084652 2q34 2 209696003 G null K R 1278 1278 missense 0.784 possibly damaging 0.29 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2060085810 2q34 2 209696006 A null G E 1279 1279 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs150116230 2q34 2 209696005 C null G R 1279 1279 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2060087456 2q34 2 209696009 A null V E 1280 1280 missense 0.728 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2060086904 2q34 2 209696008 A null V M 1280 1280 missense 0.844 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs768267158 2q34 2 209696011 G null I V 1281 1281 missense 0.037 benign 0.09 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs774354432 2q34 2 209696023 T null V L 1285 1285 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1219160749 2q34 2 209696026 T null T S 1286 1286 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1174225177 2q34 2 209696032 A null E K 1288 1288 missense 0.986 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1357171834 2q34 2 209696037 G null D E 1289 1289 missense 0.856 possibly damaging 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1284117960 2q34 2 209696036 T null D V 1289 1289 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2060093681 2q34 2 209696039 T null D V 1290 1290 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs896609143 2q34 2 209696048 T null T I 1293 1293 missense 0.992 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1583730443 2q34 2 209696047 C null T P 1293 1293 missense 0.992 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2060096971 2q34 2 209696050 A null V I 1294 1294 missense 0.374 benign 0.05 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs765928685 2q34 2 209696053 A null V M 1295 1295 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1407989941 2q34 2 209696060 T null T I 1297 1297 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1350774641 2q34 2 209696069 C null D A 1300 1300 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs776083711 2q34 2 209696075 A null G E 1302 1302 missense 0.843 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs759303413 2q34 2 209696077 A null E K 1303 1303 missense 0.944 probably damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs753113808 2q34 2 209696084 C null G A 1305 1305 missense 0.154 benign 1.0 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs965620706 2q34 2 209696087 T null S F 1306 1306 missense 0.835 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1251634218 2q34 2 209696089 T null H Y 1307 1307 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1482354067 2q34 2 209696092 G null S G 1308 1308 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1482354067 2q34 2 209696092 C null S R 1308 1308 missense 0.996 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs764541712 2q34 2 209696095 T null V L 1309 1309 missense 0.98 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs764541712 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209696095 A null V M 1309 1309 missense 0.999 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs757229807 2q34 2 209696098 T null R C 1310 1310 missense 0.989 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs757229807 2q34 2 209696098 G null R G 1310 1310 missense 0.264 benign 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein dbSNP,dbSNP,gnomAD rs1170987041 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209696099 A null R H 1310 1310 missense 0.474 possibly damaging 0.01 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs746074088 2q34 2 209696102 G null F C 1311 1311 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1174021738 2q34 2 209696105 T null A V 1312 1312 missense 0.998 probably damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1369780656 2q34 2 209696111 C null L P 1314 1314 missense 0.006 benign 0.21 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2060112516 2q34 2 209696114 C null E A 1315 1315 missense 0.0 benign 0.23 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs138157736 2q34 2 209696115 C null E D 1315 1315 missense 0.0 benign 0.19 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs2060114008 2q34 2 209696116 A null Q K 1316 1316 missense 0.899 possibly damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2060116009 2q34 2 209696120 T null P L 1317 1317 missense 0.278 benign 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1335786907 2q34 2 209696119 T null P S 1317 1317 missense 0.015 benign 0.15 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1335786907 2q34 2 209696119 A null P T 1317 1317 missense 0.166 benign 0.13 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs747911520 2q34 2 209696122 A null E K 1318 1318 missense 0.803 possibly damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1372721775 2q34 2 209696125 C null V L 1319 1319 missense 0.015 benign 0.24 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2060119286 2q34 2 209696135 C null R T 1322 1322 missense 0.031 benign 0.43 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1405877838 2q34 2 209696138 T null P L 1323 1323 missense 0.673 possibly damaging 0.09 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs751066901 2q34 2 209696140 G null S A 1324 1324 missense 0.023 benign 0.19 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs751066901 2q34 2 209696140 C null S P 1324 1324 missense 0.007 benign 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2060123382 2q34 2 209696144 G null P R 1325 1325 missense 0.234 benign 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs921277074 2q34 2 209696143 T null P S 1325 1325 missense 0.169 benign 0.05 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs932695171 2q34 2 209696147 C null H P 1326 1326 missense 0.0 benign 0.26 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs932695171 2q34 2 209696147 G null H R 1326 1326 missense 0.0 benign 0.3 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2060125211 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209696150 G null D G 1327 1327 missense 0.001 benign 0.21 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1196139416 2q34 2 209696149 C null D H 1327 1327 missense 0.356 benign 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,dbSNP,dbSNP,gnomAD rs976365071 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209696159 G null E G 1330 1330 missense 0.975 probably damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein dbSNP,dbSNP,gnomAD rs1451586846 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209696162 G null F C 1331 1331 missense 0.335 benign 0.08 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs142643213 2q34 2 209696171 G null E G 1334 1334 missense 0.45 possibly damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153724337 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 2q34 2 209696173 T null E * 1335 1335 missense 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs759084969 2q34 2 209696176 C null A P 1336 1336 missense 0.574 possibly damaging 0.17 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs759084969 2q34 2 209696176 A null A T 1336 1336 missense 0.125 benign 0.13 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2060130488 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209696177 T null A V 1336 1336 missense 0.011 benign 0.68 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs926098304 2q34 2 209696180 G null A G 1337 1337 missense 0.8 possibly damaging 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs756807197 2q34 2 209696179 A null A T 1337 1337 missense 0.732 possibly damaging 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2060132718 2q34 2 209696182 A null E K 1338 1338 missense 0.746 possibly damaging 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs775158489 2q34 2 209696197 G null P A 1343 1343 missense 0.898 possibly damaging 0.12 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2060134517 2q34 2 209696198 T null P L 1343 1343 missense 0.966 probably damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs775158489 2q34 2 209696197 T null P S 1343 1343 missense 0.953 probably damaging 0.05 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1169483182 2q34 2 209696200 G null K E 1344 1344 missense 0.262 benign 0.13 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs35915945 2q34 2 209696201 G null K R 1344 1344 missense 0.01 benign 0.2 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs35915945 2q34 2 209696201 C null K T 1344 1344 missense 0.613 possibly damaging 0.04 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs2060137882 2q34 2 209696204 G null D G 1345 1345 missense 0.626 possibly damaging 0.08 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs764458256 2q34 2 209696203 A null D N 1345 1345 missense 0.7 possibly damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs2060137882 2q34 2 209696204 T null D V 1345 1345 missense 0.842 possibly damaging 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1278381550 2q34 2 209696207 A null G D 1346 1346 missense 0.99 probably damaging 0.16 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs762450619 2q34 2 209696212 G null P A 1348 1348 missense 0.924 probably damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs892361484 2q34 2 209696213 T null P L 1348 1348 missense 0.282 benign 0.1 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs767483570 2q34 2 209696217 C null E D 1349 1349 missense 0.009 benign 0.15 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2060141950 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209696218 T null A S 1350 1350 missense 0.997 probably damaging 0.03 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs750566423 2q34 2 209696221 G null P A 1351 1351 missense 0.998 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs756373239 2q34 2 209696225 T null A V 1352 1352 missense 0.962 probably damaging 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1583739536 2q34 2 209696228 T null S F 1353 1353 missense 0.845 possibly damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2060143788 2q34 2 209696227 C null S P 1353 1353 missense 0.783 possibly damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2060144957 2q34 2 209696230 T null P S 1354 1354 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs780373367 2q34 2 209696236 T null R * 1356 1356 stop gained 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs780373367 2q34 2 209696236 G null R G 1356 1356 missense 0.242 benign 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs754124367 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209696237 T null R I 1356 1356 missense 0.677 possibly damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs767960991 2q34 2 209696246 C null V A 1359 1359 missense 0.013 benign 0.11 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs777776055 2q34 2 209696245 T null V F 1359 1359 missense 0.744 possibly damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs767960991 2q34 2 209696246 G null V G 1359 1359 missense 0.377 benign 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs985969154 2q34 2 209696249 T null A V 1360 1360 missense 0.051 benign 0.54 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs769320606 2q34 2 209696251 T null L F 1361 1361 missense 0.023 benign 0.18 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs769320606 2q34 2 209696251 G null L V 1361 1361 missense 0.348 benign 0.13 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs762601184 2q34 2 209696263 G null K E 1365 1365 missense 0.877 possibly damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1195059867 2q34 2 209696265 T null K N 1365 1365 missense 0.994 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs762601184 2q34 2 209696263 C null K Q 1365 1365 missense 0.994 probably damaging 0.08 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs774838111 2q34 2 209696266 G null T A 1366 1366 missense 0.816 possibly damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs947118063 2q34 2 209696267 T null T I 1366 1366 missense 0.994 probably damaging 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs768109414 2q34 2 209696273 T null T I 1368 1368 missense 0.999 probably damaging 0.11 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs750916132 2q34 2 209696276 G null Y C 1369 1369 missense 0.038 benign 0.33 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs147926728 2q34 2 209696280 A null D E 1370 1370 missense 0.024 benign 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1461527948 2q34 2 209696278 A null D N 1370 1370 missense 0.494 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein dbSNP,dbSNP,gnomAD rs1385950050 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209696281 A null D N 1371 1371 missense 0.726 possibly damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2060161382 2q34 2 209696292 A null D E 1374 1374 missense 0.997 probably damaging 0.05 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1319370921 2q34 2 209696290 T null D Y 1374 1374 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs755306592 2q34 2 209696295 T null E D 1375 1375 missense 0.997 probably damaging 0.05 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC rs201499809 2q34 2 209696294 G null E G 1375 1375 0.000196232 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1583743832 2q34 2 209696296 C null T P 1376 1376 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs751406711 2q34 2 209696308 A null D N 1380 1380 missense 0.997 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs757029670 2q34 2 209696319 T null M I 1383 1383 missense 0.417 benign 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1559598901 2q34 2 209696317 C null M L 1383 1383 missense 0.024 benign 0.67 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1266392795 2q34 2 209696320 T null D Y 1384 1384 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs745822511 2q34 2 209696324 G null A G 1385 1385 missense 0.731 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1205960318 2q34 2 209696323 A null A T 1385 1385 missense 0.117 benign 1.0 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153724664 2q34 2 209696327 T null D V 1386 1386 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs2060169319 2q34 2 209696332 G null L V 1388 1388 missense 0.739 possibly damaging 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,dbSNP,dbSNP,gnomAD rs1027144711 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209696336 T null W L 1389 1389 missense 0.999 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1259499012 2q34 2 209696341 T null D Y 1391 1391 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2060172389 2q34 2 209696344 C null T P 1392 1392 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs935600713 2q34 2 209696347 A null Q K 1393 1393 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs765455128 2q34 2 209696543 A null D E 1394 1394 missense 0.948 probably damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1057087998 2q34 2 209696350 T null D Y 1394 1394 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1198443853 2q34 2 209696544 T null D Y 1395 1395 missense 0.999 probably damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs752888279 2q34 2 209696554 A null S N 1398 1398 missense 0.998 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2060240595 2q34 2 209696562 G null T A 1401 1401 missense 0.997 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1209805638 2q34 2 209696570 C null Q H 1403 1403 missense 0.555 possibly damaging 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs372011116 2q34 2 209696573 C null L F 1404 1404 missense 0.988 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs767224013 2q34 2 209696578 T null T I 1406 1406 missense 0.966 probably damaging 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1376688539 2q34 2 209696581 C null I T 1407 1407 missense 0.301 benign 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1316310092 2q34 2 209696583 G null P A 1408 1408 missense 0.999 probably damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1432555603 2q34 2 209696584 T null P L 1408 1408 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1316310092 2q34 2 209696583 T null P S 1408 1408 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1184415046 2q34 2 209696586 C null K Q 1409 1409 missense 0.996 probably damaging 0.08 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs756104552 2q34 2 209696605 G null K R 1415 1415 missense 0.04 benign 0.67 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs779517499 2q34 2 209696608 G null E G 1416 1416 missense 0.617 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs778569887 2q34 2 209696614 A null R Q 1418 1418 missense 0.455 possibly damaging 0.3 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,TOPMed,gnomAD rs200795471 2q34 2 209696613 T null R W 1418 1418 0.000196232 missense 0.992 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs747759598 2q34 2 209696618 T null R S 1419 1419 missense 0.985 probably damaging 0.1 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,dbSNP,dbSNP,gnomAD rs1387562937 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209696620 T null S L 1420 1420 missense 0.071 benign 0.16 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs772479619 2q34 2 209696622 C null S P 1421 1421 missense 0.984 probably damaging 0.08 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs773768117 2q34 2 209696640 G null K E 1427 1427 missense 0.991 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1204298322 2q34 2 209696649 A null P T 1430 1430 missense 0.621 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1249566253 2q34 2 209696652 G null F V 1431 1431 missense 0.624 possibly damaging 0.24 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs145390170 2q34 2 209696662 A null G E 1434 1434 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2060257662 2q34 2 209696661 A null G R 1434 1434 missense 0.969 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1415163566 2q34 2 209696668 A null G D 1436 1436 missense 0.983 probably damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs986002008 2q34 2 209696673 G null I V 1438 1438 missense 0.957 probably damaging 0.12 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs765250506 2q34 2 209696676 G null S A 1439 1439 missense 0.971 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs765250506 2q34 2 209696676 A null S T 1439 1439 missense 0.981 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1396029239 2q34 2 209696679 G null T A 1440 1440 missense 0.957 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs775719274 2q34 2 209696686 G null E G 1442 1442 missense 0.986 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs750270081 2q34 2 209696710 T null P L 1450 1450 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1293001695 2q34 2 209696712 G null S G 1451 1451 missense 0.964 probably damaging 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs968465599 2q34 2 209696716 T null T I 1452 1452 missense 0.969 probably damaging 0.09 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs968465599 2q34 2 209696716 G null T R 1452 1452 missense 0.969 probably damaging 0.09 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs766265464 2q34 2 209696719 C null V A 1453 1453 missense 0.61 possibly damaging 0.11 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs766265464 2q34 2 209696719 A null V D 1453 1453 missense 0.944 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs766265464 2q34 2 209696719 G null V G 1453 1453 missense 0.918 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1213747468 2q34 2 209696734 A null V E 1458 1458 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,gnomAD rs368819881 2q34 2 209696733 C null V L 1458 1458 missense 0.774 possibly damaging 0.05 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,gnomAD rs368819881 2q34 2 209696733 A null V M 1458 1458 missense 0.996 probably damaging 0.09 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1309174297 2q34 2 209696737 A null R K 1459 1459 missense 0.67 possibly damaging 0.56 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1228087075 2q34 2 209696740 A null R K 1460 1460 missense 0.178 benign 0.5 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1272617325 2q34 2 209696929 C null K T 1467 1467 missense 0.751 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs759447374 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209696931 T null A S 1468 1468 missense 0.65 possibly damaging 0.08 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs998394329 2q34 2 209696932 T null A V 1468 1468 missense 0.831 possibly damaging 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1028985395 2q34 2 209696940 C null A P 1471 1471 missense 0.798 possibly damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1255997387 2q34 2 209696941 T null A V 1471 1471 missense 0.303 benign 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs752185114 2q34 2 209696943 C null K Q 1472 1472 missense 0.784 possibly damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2060328617 2q34 2 209696949 G null T A 1474 1474 missense 0.029 benign 0.09 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1399108700 2q34 2 209696961 T null A S 1478 1478 missense 0.184 benign 0.32 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1161600723 2q34 2 209696962 T null A V 1478 1478 missense 0.084 benign 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2060331065 2q34 2 209696965 G null H R 1479 1479 missense 0.986 probably damaging 0.25 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1456620983 2q34 2 209696977 A null R K 1483 1483 missense 0.194 benign 0.18 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs201357901 2q34 2 209696978 T null R S 1483 1483 missense 0.846 possibly damaging 0.05 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,gnomAD rs148758170 2q34 2 209696984 G null F L 1485 1485 missense 0.003 benign 0.13 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1416602869 2q34 2 209696986 C null I T 1486 1486 missense 0.986 probably damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2060334682 2q34 2 209696985 G null I V 1486 1486 missense 0.742 possibly damaging 0.29 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs751266655 2q34 2 209696995 T null P L 1489 1489 missense 0.975 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs751266655 2q34 2 209696995 G null P R 1489 1489 missense 0.989 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1371982188 2q34 2 209696997 C null A P 1490 1490 missense 0.997 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1371982188 2q34 2 209696997 T null A S 1490 1490 missense 0.976 probably damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1371982188 2q34 2 209696997 A null A T 1490 1490 missense 0.854 possibly damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1221676324 2q34 2 209697000 C null I L 1491 1491 missense 0.283 benign 0.05 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1317193884 2q34 2 209697004 T null K I 1492 1492 missense 0.975 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC rs781734507 2q34 2 209697007 G null Y C 1493 1493 missense 0.989 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs746375411 2q34 2 209697009 G null T A 1494 1494 missense 0.89 possibly damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs770255902 2q34 2 209697010 T null T I 1494 1494 missense 0.989 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs770255902 2q34 2 209697010 A null T N 1494 1494 missense 0.983 probably damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1370998339 2q34 2 209697012 G null R G 1495 1495 missense 0.983 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs780151631 2q34 2 209697013 A null R K 1495 1495 missense 0.943 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1189275971 2q34 2 209697015 T null P S 1496 1496 missense 0.992 probably damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs749289155 2q34 2 209697019 T null T I 1497 1497 missense 0.632 possibly damaging 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1468691113 2q34 2 209697022 G null H R 1498 1498 missense 0.969 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs768746298 2q34 2 209697027 C null S P 1500 1500 missense 0.992 probably damaging 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs954327403 2q34 2 209697030 C null C R 1501 1501 missense 0.979 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs762089060 2q34 2 209697037 G null K R 1503 1503 missense 0.283 benign 0.46 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149033530 2q34 2 209697040 A null R Q 1504 1504 missense 0.989 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs369892280 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209697039 T null R W 1504 1504 missense 0.999 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs759483526 2q34 2 209697048 T null T S 1507 1507 missense 0.92 probably damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs2060350339 2q34 2 209697051 A null A T 1508 1508 missense 0.472 possibly damaging 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs569403800 2q34 2 209700283 A null G D 1510 1510 missense 0.213 benign 0.1 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs569403800 2q34 2 209700283 T null G V 1510 1510 missense 0.015 benign 0.19 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1201269144 2q34 2 209700298 C null L P 1515 1515 missense 0.096 benign 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1439656618 2q34 2 209700300 C null A P 1516 1516 missense 0.097 benign 0.57 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1439656618 2q34 2 209700300 A null A T 1516 1516 missense 0.06 benign 0.23 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs745598144 2q34 2 209700307 A null S N 1518 1518 missense 0.488 possibly damaging 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2061438483 2q34 2 209700308 G null S R 1518 1518 missense 0.806 possibly damaging 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs745598144 2q34 2 209700307 C null S T 1518 1518 missense 0.565 possibly damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs937533097 2q34 2 209700309 A null V I 1519 1519 missense 0.006 benign 0.05 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs769640167 2q34 2 209700315 C null K Q 1521 1521 missense 0.978 probably damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1270053214 2q34 2 209700320 C null Q H 1522 1522 missense 0.605 possibly damaging 0.09 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,gnomAD rs543368309 2q34 2 209700322 G null A G 1523 1523 0.000196232 missense 0.028 benign 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1183372543 2q34 2 209700324 G null K E 1524 1524 missense 0.95 probably damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,gnomAD rs377593461 2q34 2 209700334 C null V A 1527 1527 missense 0.07 benign 0.86 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1584100171 2q34 2 209705584 A null G E 1530 1530 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs145501967 2q34 2 209705583 A null G R 1530 1530 missense 1.0 probably damaging 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs746921940 2q34 2 209705586 A null V I 1531 1531 missense 0.009 benign 0.49 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs978779229 2q34 2 209705590 T null T I 1532 1532 missense 0.048 benign 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs2063167798 2q34 2 209705592 C null K Q 1533 1533 missense 0.541 possibly damaging 0.08 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs756783291 2q34 2 209705604 G null K E 1537 1537 missense 0.969 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2063169167 2q34 2 209705606 C null K N 1537 1537 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs925902820 2q34 2 209705607 T null R C 1538 1538 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,TOPMed,dbSNP,dbSNP,gnomAD rs200474600 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209705608 A null R H 1538 1538 0.0002 missense 0.999 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,TOPMed,gnomAD rs200474600 2q34 2 209705608 T null R L 1538 1538 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1316004505 2q34 2 209705620 A null P Q 1542 1542 missense 0.999 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2063174525 2q34 2 209705636 G null I M 1547 1547 missense 0.995 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs988612740 2q34 2 209705634 G null I V 1547 1547 missense 0.682 possibly damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,dbSNP,dbSNP,gnomAD rs1360222952 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209705644 T null P L 1550 1550 missense 0.236 benign 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs775158582 2q34 2 209705647 C null R P 1551 1551 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs775158582 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209705647 A null R Q 1551 1551 missense 0.99 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1488869447 2q34 2 209705646 T null R W 1551 1551 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1255439477 2q34 2 209705650 T null R L 1552 1552 missense 0.9 possibly damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1255439477 2q34 2 209705650 C null R P 1552 1552 missense 0.954 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1255439477 2q34 2 209705650 A null R Q 1552 1552 missense 0.927 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1476240293 2q34 2 209705652 A null G S 1553 1553 missense 0.327 benign 0.08 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs2063180196 2q34 2 209705653 T null G V 1553 1553 missense 0.404 benign 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs949821510 2q34 2 209705666 G null D E 1557 1557 missense 0.947 probably damaging 0.21 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1407524691 2q34 2 209705664 A null D N 1557 1557 missense 0.975 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs371482707 2q34 2 209705672 A null D E 1559 1559 missense 0.036 benign 0.57 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2063183043 2q34 2 209705671 T null D V 1559 1559 missense 0.495 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs762296068 2q34 2 209705674 G null E G 1560 1560 missense 0.993 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1584102269 2q34 2 209705685 A null S T 1564 1564 missense 0.685 possibly damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1362227261 2q34 2 209705688 T null L F 1565 1565 missense 0.979 probably damaging 0.05 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1420192802 2q34 2 209705689 A null L H 1565 1565 missense 0.993 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2063186713 2q34 2 209705693 G null N K 1566 1566 missense 0.615 possibly damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs767693312 2q34 2 209705695 T null S I 1567 1567 missense 0.152 benign 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs767693312 2q34 2 209705695 A null S N 1567 1567 missense 0.476 possibly damaging 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2063188441 2q34 2 209705698 G null S C 1568 1568 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs773465317 2q34 2 209705697 C null S P 1568 1568 missense 0.982 probably damaging 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs760867265 2q34 2 209705700 C null I L 1569 1569 missense 0.0 benign 0.52 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1348061074 2q34 2 209705702 G null I M 1569 1569 missense 0.001 benign 0.09 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs199728294 2q34 2 209705701 C null I T 1569 1569 missense 0.025 benign 0.05 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs760867265 2q34 2 209705700 G null I V 1569 1569 missense 0.003 benign 0.68 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs758141796 2q34 2 209705715 G null R G 1574 1574 missense 0.974 probably damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs376761772 2q34 2 209705716 A null R Q 1574 1574 missense 0.995 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs758141796 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209705715 T null R W 1574 1574 missense 0.997 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs780652765 2q34 2 209705719 A null R Q 1575 1575 missense 0.997 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs757232375 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209705718 T null R W 1575 1575 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,gnomAD rs555179334 2q34 2 209705722 T null T I 1576 1576 0.000196232 missense 0.988 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1202873241 2q34 2 209709914 A null R K 1578 1578 missense 0.963 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2064889139 2q34 2 209709920 G null E G 1580 1580 missense 0.998 probably damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs760779247 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209709928 T null R C 1583 1583 missense 0.995 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs760779247 2q34 2 209709928 G null R G 1583 1583 missense 0.964 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs776904106 2q34 2 209709929 A null R H 1583 1583 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1200661820 2q34 2 209709931 G null R G 1584 1584 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs763924677 2q34 2 209709934 C null A P 1585 1585 missense 0.341 benign 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2064896334 2q34 2 209709938 A null G E 1586 1586 missense 0.994 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2064896334 2q34 2 209709938 T null G V 1586 1586 missense 0.994 probably damaging 0.05 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,TOPMed,gnomAD rs373881033 2q34 2 209709937 T null G W 1586 1586 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1314255993 2q34 2 209709941 G null K R 1587 1587 missense 0.421 benign 0.64 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1584253839 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209709947 A null G D 1589 1589 missense 0.998 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2064899444 2q34 2 209709949 G null T A 1590 1590 missense 0.922 probably damaging 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2064900800 2q34 2 209709961 C null T P 1594 1594 missense 0.992 probably damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1228014934 2q34 2 209709971 T null G V 1597 1597 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1244775485 2q34 2 209709974 A null S Y 1598 1598 missense 0.997 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2064905324 2q34 2 209709977 A null T N 1599 1599 missense 0.971 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs149674945 2q34 2 209709979 T null A S 1600 1600 missense 0.931 probably damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153764244 2q34 2 209709985 G null T A 1602 1602 missense 0.715 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,dbSNP,dbSNP rs961813289 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209709988 T null P S 1603 1603 missense 0.791 possibly damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1173119852 2q34 2 209709992 C null G A 1604 1604 missense 0.865 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2064908196 2q34 2 209709998 T null P L 1606 1606 missense 0.981 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2064910188 2q34 2 209710004 A null S N 1608 1608 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1381725548 2q34 2 209710003 C null S R 1608 1608 missense 0.936 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2064910188 2q34 2 209710004 C null S T 1608 1608 missense 0.636 possibly damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1584254461 2q34 2 209710009 C null S P 1610 1610 missense 0.701 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1391715724 2q34 2 209710012 G null S A 1611 1611 missense 0.72 possibly damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs761630531 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209710015 T null R C 1612 1612 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,gnomAD rs571439742 2q34 2 209710016 A null R H 1612 1612 0.000196232 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs761630531 2q34 2 209710015 A null R S 1612 1612 missense 0.473 possibly damaging 0.18 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs755556272 2q34 2 209710021 G null P A 1614 1614 missense 0.715 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs755556272 2q34 2 209710021 A null P T 1614 1614 missense 0.715 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2064917035 2q34 2 209710028 T null T I 1616 1616 missense 0.971 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs753517911 2q34 2 209710031 G null P R 1617 1617 missense 0.863 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2064918375 2q34 2 209710030 T null P S 1617 1617 missense 0.715 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1467432154 2q34 2 209710037 T null T I 1619 1619 missense 0.715 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs370309886 2q34 2 209710040 G null P R 1620 1620 missense 0.98 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1270108233 2q34 2 209710043 C null S T 1621 1621 missense 0.715 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1269130482 2q34 2 209710046 G null Y C 1622 1622 missense 0.761 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs772577564 2q34 2 209710048 G null P A 1623 1623 missense 0.066 benign 0.54 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1258858091 2q34 2 209710052 A null R K 1624 1624 missense 0.715 possibly damaging 0.05 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1334364138 2q34 2 209710055 A null T N 1625 1625 missense 0.982 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1029918686 2q34 2 209710061 G null H R 1627 1627 missense 0.081 benign 0.59 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs2064927305 2q34 2 209710064 A null T K 1628 1628 missense 0.865 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1212058077 2q34 2 209710066 G null P A 1629 1629 missense 0.551 possibly damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1212058077 2q34 2 209710066 A null P T 1629 1629 missense 0.551 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1453133093 2q34 2 209710070 A null G E 1630 1630 missense 0.865 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs778357633 2q34 2 209710069 A null G R 1630 1630 missense 0.913 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1199370096 2q34 2 209710080 C null K N 1633 1633 missense 0.69 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1290699396 2q34 2 209710085 T null A V 1635 1635 missense 0.069 benign 0.05 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2064932891 2q34 2 209710088 C null I T 1636 1636 missense 0.438 benign 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,gnomAD rs537269157 2q34 2 209710093 A null V M 1638 1638 missense 0.684 possibly damaging 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs2064934175 2q34 2 209710097 T null P L 1639 1639 missense 0.864 possibly damaging 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs2064934175 2q34 2 209710097 A null P Q 1639 1639 missense 0.907 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1196174014 2q34 2 209710100 A null S N 1640 1640 missense 0.023 benign 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1179527223 2q34 2 209710102 C null E Q 1641 1641 missense 0.968 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1341302850 2q34 2 209710109 C null K T 1643 1643 missense 0.723 possibly damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1249611751 2q34 2 209710111 A null V I 1644 1644 missense 0.432 benign 0.05 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs769870490 2q34 2 209710114 A null A T 1645 1645 missense 0.715 possibly damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs775805582 2q34 2 209710117 G null I V 1646 1646 missense 0.081 benign 0.35 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1161122022 2q34 2 209710120 T null I L 1647 1647 missense 0.081 benign 0.1 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs761542779 2q34 2 209710121 C null I T 1647 1647 missense 0.438 benign 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1318162652 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209710123 T null R C 1648 1648 missense 0.99 probably damaging 0.01 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,dbSNP,dbSNP,gnomAD rs767308315 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209710124 A null R H 1648 1648 missense 0.987 probably damaging 0.01 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1318162652 2q34 2 209710123 A null R S 1648 1648 missense 0.608 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153765111 2q34 2 209710126 G null T A 1649 1649 missense 0.608 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1345134589 2q34 2 209710127 T null T I 1649 1649 missense 0.955 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1278847461 2q34 2 209710132 T null P S 1651 1651 missense 0.715 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1354934734 2q34 2 209710139 A null S Y 1653 1653 missense 0.98 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs987857208 2q34 2 209710141 A null P T 1654 1654 missense 0.409 benign 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1231629085 2q34 2 209710144 A null A T 1655 1655 missense 0.459 possibly damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs750357842 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209710145 T null A V 1655 1655 missense 0.842 possibly damaging 0.01 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2064949629 2q34 2 209710153 G null K E 1658 1658 missense 0.864 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs779122339 2q34 2 209710154 G null K R 1658 1658 missense 0.357 benign 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein dbSNP,dbSNP,gnomAD rs1487230722 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209710163 A null R Q 1661 1661 missense 0.409 benign 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,dbSNP,dbSNP,gnomAD rs911365377 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209710162 T null R W 1661 1661 missense 0.99 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1263220518 2q34 2 209710169 C null I T 1663 1663 missense 0.921 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1474583506 2q34 2 209710172 G null N S 1664 1664 missense 0.066 benign 0.04 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1184836325 2q34 2 209710175 G null Q R 1665 1665 missense 0.955 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1461018067 2q34 2 209710198 C null V L 1673 1673 missense 0.255 benign 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs752402917 2q34 2 209710213 A null G R 1678 1678 missense 0.999 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1299363012 2q34 2 209710217 T null S L 1679 1679 missense 0.99 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs924017479 2q34 2 209710224 A null D E 1681 1681 missense 0.091 benign 0.39 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2064961989 2q34 2 209710228 C null I L 1683 1683 missense 0.262 benign 0.17 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2064962585 2q34 2 209710229 C null I T 1683 1683 missense 0.955 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1224847509 2q34 2 209710237 A null Q K 1686 1686 missense 0.579 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,gnomAD rs199628162 2q34 2 209710247 C null G A 1689 1689 0.000196232 missense 0.992 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,gnomAD rs199628162 2q34 2 209710247 T null G V 1689 1689 0.000196232 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2064965859 2q34 2 209710250 A null G E 1690 1690 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs781736914 2q34 2 209710252 A null Q K 1691 1691 missense 0.958 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1230978221 2q34 2 209723595 T null V F 1692 1692 missense 0.978 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1257200167 2q34 2 209723599 C null R T 1693 1693 missense 0.027 benign 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1559668930 2q34 2 209723601 T null I F 1694 1694 missense 0.354 benign 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2072372079 2q34 2 209723608 G null N S 1696 1696 missense 0.001 benign 0.4 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs911107549 2q34 2 209723613 T null K * 1698 1698 missense 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs911107549 2q34 2 209723613 G null K E 1698 1698 missense 0.906 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1320824055 2q34 2 209723615 T null K N 1698 1698 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2072379043 2q34 2 209723614 G null K R 1698 1698 missense 0.341 benign 0.08 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs559897682 2q34 2 209723619 A null D N 1700 1700 missense 0.013 benign 0.03 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs559897682 2q34 2 209723619 T null D Y 1700 1700 missense 0.625 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs148283620 2q34 2 209723625 G null S G 1702 1702 missense 0.564 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs148283620 2q34 2 209723625 C null S R 1702 1702 missense 0.969 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1252770640 2q34 2 209723632 C null V A 1704 1704 missense 0.622 possibly damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1419562363 2q34 2 209723634 T null Q * 1705 1705 stop gained 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs141333130 2q34 2 209723636 T null Q H 1705 1705 missense 0.202 benign 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1178899912 2q34 2 209723635 C null Q P 1705 1705 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs763417813 2q34 2 209723637 G null S A 1706 1706 missense 0.451 possibly damaging 0.08 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1461520791 2q34 2 209723638 T null S F 1706 1706 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC rs781496879 2q34 2 209723641 T null R I 1707 1707 missense 0.974 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1242431971 2q34 2 209723643 C null C R 1708 1708 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1168705672 2q34 2 209723646 C null G R 1709 1709 missense 0.955 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs913973328 2q34 2 209723647 T null G V 1709 1709 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,gnomAD rs572354951 2q34 2 209723650 G null S C 1710 1710 0.000196232 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,gnomAD rs375852535 2q34 2 209723656 G null D G 1712 1712 missense 0.967 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2072424657 2q34 2 209723662 A null I N 1714 1714 missense 0.988 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs139063535 2q34 2 209723664 G null K E 1715 1715 missense 0.628 possibly damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2072428443 2q34 2 209723665 G null K R 1715 1715 missense 0.198 benign 0.19 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,TOPMed,gnomAD rs370466923 2q34 2 209723667 T null H Y 1716 1716 missense 0.842 possibly damaging 0.82 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs749491209 2q34 2 209723671 T null S L 1717 1717 missense 0.734 possibly damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1056609421 2q34 2 209723673 T null A S 1718 1718 missense 0.846 possibly damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1226052293 2q34 2 209723680 C null G A 1720 1720 missense 0.954 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1226052293 2q34 2 209723680 A null G D 1720 1720 missense 0.965 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs770763305 2q34 2 209723683 C null G A 1721 1721 missense 0.261 benign 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs746721817 2q34 2 209723682 A null G R 1721 1721 missense 0.99 probably damaging 0.01 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs770763305 2q34 2 209723683 T null G V 1721 1721 missense 0.985 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2073691869 2q34 2 209725714 T null Q H 1724 1724 missense 0.625 possibly damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs748468525 2q34 2 209725718 A null V I 1726 1726 missense 0.355 benign 0.07 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2073693799 2q34 2 209725724 G null K E 1728 1728 missense 0.915 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein dbSNP,dbSNP,gnomAD rs1478174826 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209725742 T null H Y 1734 1734 missense 0.983 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2073700802 2q34 2 209725764 T null S F 1741 1741 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1437904181 2q34 2 209725775 G null I V 1745 1745 missense 0.623 possibly damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,dbSNP,dbSNP,gnomAD rs997102637 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209725778 T null R C 1746 1746 missense 0.942 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,dbSNP,gnomAD rs1166578294 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209725779 A null R H 1746 1746 missense 0.025 benign 0.96 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1166578294 2q34 2 209725779 T null R L 1746 1746 missense 0.609 possibly damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1418968835 2q34 2 209725785 A null R K 1748 1748 missense 0.02 benign 0.23 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs775587807 2q34 2 209725787 A null P T 1749 1749 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1237794706 2q34 2 209729853 A null G D 1751 1751 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein dbSNP,dbSNP,gnomAD rs1210962424 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209729852 A null G S 1751 1751 missense 0.999 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl,dbSNP,dbSNP rs1559685352 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209729855 A null G R 1752 1752 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs749308409 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209729858 T null R C 1753 1753 missense 0.99 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,dbSNP,dbSNP,gnomAD rs1239778625 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209729859 A null R H 1753 1753 missense 0.282 benign 0.3 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs768272221 2q34 2 209729861 T null V L 1754 1754 missense 0.846 possibly damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2075440121 2q34 2 209729873 T null S C 1758 1758 missense 0.99 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2075441233 2q34 2 209729876 A null V I 1759 1759 missense 0.756 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs761341530 2q34 2 209729886 G null D G 1762 1762 missense 0.995 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2075443054 2q34 2 209729900 C null A P 1767 1767 missense 0.909 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2075443054 2q34 2 209729900 T null A S 1767 1767 missense 0.986 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs772763087 2q34 2 209729912 A null V I 1771 1771 missense 0.388 benign 0.08 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2075444764 2q34 2 209729916 A null G D 1772 1772 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs766795204 2q34 2 209729921 G null L V 1774 1774 missense 0.787 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1479300687 2q34 2 209729930 A null A T 1777 1777 missense 0.677 possibly damaging 0.14 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1049505728 2q34 2 209729933 G null H D 1778 1778 missense 0.756 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1247920237 2q34 2 209729937 C null H P 1779 1779 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1049588239 2q34 2 209729943 T null P L 1781 1781 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs760085265 2q34 2 209729951 A null G S 1784 1784 missense 0.936 probably damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2075583724 2q34 2 209730186 G null D G 1789 1789 missense 0.864 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1488604359 2q34 2 209730185 A null D N 1789 1789 missense 0.723 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1238142724 2q34 2 209730189 A null S N 1790 1790 missense 0.551 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs148804064 2q34 2 209730197 G null L V 1793 1793 missense 0.434 benign 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs146867931 2q34 2 209730201 G null N S 1794 1794 missense 0.145 benign 0.27 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs1049516353 2q34 2 209730207 A null R K 1796 1796 missense 0.721 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs751819119 2q34 2 209730210 G null E G 1797 1797 missense 0.927 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1355999618 2q34 2 209730209 A null E K 1797 1797 missense 0.483 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs911065664 2q34 2 209730224 T null R C 1802 1802 missense 0.639 possibly damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs757603004 2q34 2 209730225 A null R H 1802 1802 missense 0.987 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1363080880 2q34 2 209730227 A null V M 1803 1803 missense 0.992 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed rs2075593601 2q34 2 209730230 T null D Y 1804 1804 missense 0.992 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP rs369928322 2q34 2 209730234 C null H P 1805 1805 missense 0.968 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,gnomAD rs377443387 2q34 2 209730233 T null H Y 1805 1805 missense 0.968 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs778855822 2q34 2 209730245 C null I L 1809 1809 missense 0.796 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1195298376 2q34 2 209730247 G null I M 1809 1809 missense 0.864 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1373274328 2q34 2 209730249 C null I T 1810 1810 missense 0.558 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1472267695 2q34 2 209730255 G null Q R 1812 1812 missense 0.357 benign 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2075599891 2q34 2 209730258 T null S F 1813 1813 missense 0.992 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs1425788178 2q34 2 209730264 A null G D 1815 1815 missense 0.026 benign 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs748099259 2q34 2 209730274 A null S R 1818 1818 missense 0.931 probably damaging 0.02 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs757910423 2q34 2 209730275 C null V L 1819 1819 missense 0.218 benign 0.12 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,gnomAD rs757910423 2q34 2 209730275 A null V M 1819 1819 missense 0.762 possibly damaging 0.1 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1379162108 2q34 2 209730278 C null A P 1820 1820 missense 0.551 possibly damaging 0.06 tolerated 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs746629386 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209730288 A null R Q 1823 1823 missense 0.629 possibly damaging 0.15 tolerated 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs770531225 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 2q34 2 209730290 T null R * 1824 1824 missense 1 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs776286404 2q34 2 209730291 T null R L 1824 1824 missense 0.94 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs776286404 2q34 2 209730291 A null R Q 1824 1824 missense 0.98 probably damaging 0.03 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1559687415 2q34 2 209730302 A null V I 1828 1828 missense 0.812 possibly damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein dbSNP,dbSNP,gnomAD rs1243992461 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209730309 T null S L 1830 1830 missense 0.96 probably damaging 0.0 deleterious 1 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153820055 2q34 2 209730308 C null S P 1830 1830 missense 0.905 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs2153820067 2q34 2 209730317 G null S G 1833 1833 missense 0.981 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein 1000Genomes,ExAC,gnomAD rs545743390 2q34 2 209730320 G null I V 1834 1834 0.000196232 missense 0.715 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1487300224 2q34 2 209730324 G null N S 1835 1835 missense 0.972 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein gnomAD rs2075617715 2q34 2 209730329 T null L F 1837 1837 missense 0.973 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs762018785 2q34 2 209730338 T null P S 1840 1840 missense 0.865 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ESP,ExAC,TOPMed,gnomAD rs375692292 2q34 2 209730350 G null T A 1844 1844 missense 0.707 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs1559687831 2q34 2 209730351 G null T S 1844 1844 missense 0.931 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein Ensembl rs780479661 2q34 2 209730360 G null E G 1847 1847 missense 0.96 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs750689885 2q34 2 209730375 T null A V 1852 1852 missense 0.974 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1045441874 2q34 2 209730377 A null L I 1853 1853 missense 0.953 probably damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,dbSNP,dbSNP,gnomAD rs906908980 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q34 2 209730380 A null A T 1854 1854 missense 0.994 probably damaging 0.01 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein TOPMed,gnomAD rs1422079182 2q34 2 209730387 G null Q R 1856 1856 missense 0.814 possibly damaging 0.0 deleterious 0 A0A024R3Z1 MAP2 Microtubule-associated protein ExAC,gnomAD rs758304515 2q34 2 209730394 C null L F 1858 1858 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs757875254 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241266860 T null V I 4 4 missense 0.245 benign 0.02 deleterious - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs200742521 2q37.3 2 241266856 T null A E 5 5 missense 0.831 possibly damaging 0.0 deleterious - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs759403524 2q37.3 2 241266854 T null V I 6 6 missense 0.161 benign 0.02 deleterious - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2073710408 2q37.3 2 241266832 A null A V 13 13 missense 0.269 benign 0.1 tolerated - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1456326486 2q37.3 2 241266829 A null E V 14 14 missense 0.432 benign 0.0 deleterious - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2073709665 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 2q37.3 2 241266824 A null R * 16 16 missense 1 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs986847427 2q37.3 2 241266821 C null S G 17 17 missense 0.001 benign 0.03 deleterious - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2073709065 2q37.3 2 241266815 C null L V 19 19 missense 0.444 benign 0.01 deleterious - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs753730202 2q37.3 2 241266812 T null V I 20 20 missense 0.02 benign 0.32 tolerated - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs753730202 2q37.3 2 241266812 G null V L 20 20 missense 0.0 benign 0.62 tolerated - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,dbSNP,dbSNP,gnomAD rs766397299 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241266808 A null P L 21 21 missense 0.031 benign 0.03 deleterious - low confidence 1 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2073708218 2q37.3 2 241266805 C null Q R 22 22 missense 0.12 benign 0.03 deleterious - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1400305114 2q37.3 2 241264602 T null A D 27 27 missense 0.056 benign 0.02 deleterious - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1212464794 2q37.3 2 241264603 A null A S 27 27 missense 0.038 benign 0.19 tolerated - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs144379709 2q37.3 2 241264600 C null T A 28 28 0.00274725 missense 0.0 benign 0.84 tolerated - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144379709 2q37.3 2 241264600 G null T P 28 28 0.00274725 missense 0.001 benign 0.13 tolerated - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2149530377 2q37.3 2 241264599 C null T S 28 28 missense 0.003 benign 0.65 tolerated - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,gnomAD rs369014439 2q37.3 2 241264596 G null L P 29 29 missense 0.011 benign 0.1 tolerated - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs541078735 2q37.3 2 241264597 C null L V 29 29 missense 0.08 benign 0.29 tolerated - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs750320032 2q37.3 2 241264592 T null N K 30 30 missense 0.057 benign 0.39 tolerated - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1191024009 2q37.3 2 241264593 G null N T 30 30 missense 0.005 benign 0.33 tolerated - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1463413559 2q37.3 2 241264588 T null E K 32 32 missense 0.007 benign 0.0 deleterious - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs761945807 2q37.3 2 241264584 C null E G 33 33 missense 0.003 benign 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,dbSNP,dbSNP,gnomAD rs767410138 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241264585 T null E K 33 33 missense 0.069 benign 0.07 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1559521759 2q37.3 2 241264579 C null S G 35 35 missense 0.031 benign 0.36 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1574964724 2q37.3 2 241264575 G null D A 36 36 missense 0.013 benign 0.96 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs768840264 2q37.3 2 241264576 T null D N 36 36 missense 0.556 possibly damaging 0.8 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs141167515 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241264572 A null P L 37 37 missense 0.009 benign 0.36 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1265620584 2q37.3 2 241264563 C null Y C 40 40 missense 0.928 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs770075568 2q37.3 2 241264560 C null K R 41 41 missense 0.01 benign 0.27 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1356903199 2q37.3 2 241264555 T null A T 43 43 missense 0.568 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2073498611 2q37.3 2 241264540 C null P A 48 48 missense 0.062 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1329961135 2q37.3 2 241264524 A null C F 53 53 missense 0.085 benign 0.24 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2149530053 2q37.3 2 241264525 C null C G 53 53 missense 0.0 benign 0.46 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs747673112 2q37.3 2 241264512 A null A V 57 57 missense 0.006 benign 0.34 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs11891776 2q37.3 2 241264501 G null A P 61 61 missense 0.003 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs11891776 2q37.3 2 241264501 A null A S 61 61 missense 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs11891776 2q37.3 2 241264501 T null A T 61 61 missense 0.007 benign 0.13 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ExAC,TOPMed,gnomAD rs182727333 2q37.3 2 241264495 A null A S 63 63 0.000981162 missense 0.02 benign 0.18 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1456699162 2q37.3 2 241264491 G null W S 64 64 missense 0.014 benign 0.12 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,dbSNP,dbSNP,gnomAD rs1375079473 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241264488 T null G E 65 65 missense 0.063 benign 0.19 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1375079473 2q37.3 2 241264488 A null G V 65 65 missense 0.063 benign 0.05 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2073495270 2q37.3 2 241264485 C null N S 66 66 missense 0.001 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs757187077 2q37.3 2 241264483 C null K E 67 67 missense 0.053 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1283529258 2q37.3 2 241264478 C null I M 68 68 missense 0.468 possibly damaging 0.12 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs764118724 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241264476 T null R Q 69 69 missense 0.28 benign 0.13 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1303060063 2q37.3 2 241264474 A null P S 70 70 missense 0.446 benign 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs763024592 2q37.3 2 241264471 C null I V 71 71 missense 0.01 benign 0.32 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs2073493037 2q37.3 2 241264464 T null A D 73 73 missense 0.336 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1255155726 2q37.3 2 241264465 A null A S 73 73 missense 0.013 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2073316630 2q37.3 2 241262926 A null V L 79 79 missense 0.44 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2073316630 2q37.3 2 241262926 T null V M 79 79 missense 0.571 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2073315986 2q37.3 2 241262913 T null P H 83 83 missense 0.44 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2073315018 2q37.3 2 241262885 T null M I 92 92 missense 0.0 benign 0.94 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1221094501 2q37.3 2 241262857 C null K E 102 102 missense 0.161 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,TOPMed,gnomAD rs140608605 2q37.3 2 241262848 T null L I 105 105 missense 0.023 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,TOPMed,gnomAD rs140608605 2q37.3 2 241262848 C null L V 105 105 missense 0.007 benign 0.29 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1274287208 2q37.3 2 241262839 G null M L 108 108 missense 0.265 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2073312611 2q37.3 2 241262821 A null H Y 114 114 missense 0.027 benign 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs761118075 2q37.3 2 241262818 T null L M 115 115 missense 0.244 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1490898113 2q37.3 2 241262795 T null D E 122 122 missense 0.449 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1356351149 2q37.3 2 241262794 T null Q K 123 123 missense 0.113 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2073310974 2q37.3 2 241262790 A null G V 124 124 missense 0.117 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs762517514 2q37.3 2 241262775 G null V A 129 129 missense 0.454 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2149520523 2q37.3 2 241262767 C null K E 132 132 missense 0.545 possibly damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1475760245 2q37.3 2 241262759 T null D E 134 134 missense 0.003 benign 0.53 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs745470341 2q37.3 2 241262761 G null D H 134 134 missense 0.579 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs745470341 2q37.3 2 241262761 T null D N 134 134 missense 0.019 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1169746510 2q37.3 2 241262757 T null A D 135 135 missense 0.055 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs780901435 2q37.3 2 241262751 G null M T 137 137 missense 0.034 benign 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2073308661 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241262743 A null R W 140 140 missense 0.995 probably damaging 0.01 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1405298290 2q37.3 2 241262733 G null I T 143 143 missense 0.9 possibly damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ExAC,TOPMed,gnomAD rs531962779 2q37.3 2 241262734 C null I V 143 143 missense 0.161 benign 0.23 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein dbSNP,dbSNP,gnomAD rs1473316822 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241262725 C null R G 146 146 missense 0.024 benign 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1412587582 2q37.3 2 241262719 T null Q K 148 148 missense 0.325 benign 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2073306557 2q37.3 2 241262715 C null T S 149 149 missense 0.742 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1367918749 2q37.3 2 241262712 G null Q P 150 150 missense 0.811 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs780105002 2q37.3 2 241256802 A null S L 152 152 missense 0.051 benign 0.18 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs750691998 2q37.3 2 241256796 A null T I 154 154 missense 0.065 benign 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs750691998 2q37.3 2 241256796 T null T N 154 154 missense 0.065 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs756450726 2q37.3 2 241256797 A null T S 154 154 missense 0.009 benign 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1008430478 2q37.3 2 241256790 C null A G 156 156 missense 0.003 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1350485384 2q37.3 2 241256791 T null A T 156 156 missense 0.005 benign 0.12 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC rs148487749 2q37.3 2 241256788 C null I V 157 157 missense 0.431 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1411286729 2q37.3 2 241256781 C null K R 159 159 missense 0.207 benign 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2072647419 2q37.3 2 241256776 T null H N 161 161 missense 0.892 possibly damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1451517942 2q37.3 2 241256775 C null H R 161 161 missense 0.892 possibly damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2072646672 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241256769 T null R H 163 163 missense 0.961 probably damaging 0.01 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1248964755 2q37.3 2 241256744 G null E D 171 171 missense 0.041 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2149487593 2q37.3 2 241256736 C null Q R 174 174 missense 0.094 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1226199057 2q37.3 2 241256732 C null D E 175 175 missense 0.003 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs2072643874 2q37.3 2 241256728 G null E Q 177 177 missense 0.638 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs2072643671 2q37.3 2 241256724 G null L P 178 178 missense 0.353 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs764717873 2q37.3 2 241256699 C null I M 186 186 missense 0.67 possibly damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1051912982 2q37.3 2 241256695 A null R C 188 188 missense 0.961 probably damaging 0.16 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,dbSNP,dbSNP,gnomAD rs1289991895 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241256694 T null R H 188 188 missense 0.22 benign 0.01 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs758962394 2q37.3 2 241256691 A null P L 189 189 missense 0.023 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61757694 2q37.3 2 241256683 C null P A 192 192 missense 0.001 benign 0.23 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs772856476 2q37.3 2 241256682 T null P H 192 192 missense 0.062 benign 0.19 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61757694 2q37.3 2 241256683 A null P S 192 192 missense 0.015 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61757694 2q37.3 2 241256683 T null P T 192 192 missense 0.027 benign 0.15 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs2072641004 2q37.3 2 241256679 T null S N 193 193 missense 0.03 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs771800582 2q37.3 2 241256677 C null N D 194 194 missense 0.006 benign 0.47 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1217285528 2q37.3 2 241256674 C null Q E 195 195 missense 0.011 benign 0.28 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein dbSNP,dbSNP,gnomAD rs1348085599 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241256641 T null E K 206 206 missense 0.113 benign 0.17 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs774154606 2q37.3 2 241256632 A null R C 209 209 missense 0.884 possibly damaging 0.02 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP rs371457818 2q37.3 2 241256631 T null R H 209 209 missense 0.365 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1390987420 2q37.3 2 241256628 C null H R 210 210 missense 0.073 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,gnomAD rs376881661 2q37.3 2 241256623 T null V I 212 212 missense 0.0 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1191854801 2q37.3 2 241256619 G null L S 213 213 missense 0.29 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs746016337 2q37.3 2 241256613 T null I N 215 215 missense 0.742 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs746016337 2q37.3 2 241256613 G null I T 215 215 missense 0.325 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1267437924 2q37.3 2 241256614 C null I V 215 215 missense 0.325 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,dbSNP,dbSNP,gnomAD rs777752687 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241256605 T null E K 218 218 missense 0.545 possibly damaging 0.03 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs376021997 2q37.3 2 241256395 C null K R 221 221 missense 0.299 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ExAC,dbSNP,dbSNP,gnomAD rs556914078 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241256393 A null R C 222 222 0.0002 missense 0.939 probably damaging 0.15 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs757592730 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241256392 T null R H 222 222 missense 0.919 probably damaging 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ExAC,gnomAD rs200585028 2q37.3 2 241256387 T null V M 224 224 0.000196232 missense 0.353 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1559510228 2q37.3 2 241256382 G null E D 225 225 missense 0.394 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1216610110 2q37.3 2 241256380 G null R T 226 226 missense 0.242 benign 0.13 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs7572799 [ClinVar]: HDLBP-related disorder 2q37.3 2 241256372 T null V I 229 229 0.000981162 missense 0 HDLBP-related disorder ClinVar:RCV003940477 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs7572799 2q37.3 2 241256372 A null V L 229 229 0.000981162 missense 0.068 benign 0.44 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs755621726 2q37.3 2 241256363 G null A P 232 232 missense 0.101 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs755621726 2q37.3 2 241256363 A null A S 232 232 missense 0.177 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1400002014 2q37.3 2 241256362 A null A V 232 232 missense 0.015 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1256417729 2q37.3 2 241256351 T null F I 236 236 missense 0.778 possibly damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,gnomAD rs375276065 2q37.3 2 241256345 T null A T 238 238 missense 0.298 benign 0.53 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1193459074 2q37.3 2 241256333 C null N D 242 242 missense 0.393 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148554464 2q37.3 2 241256316 G null E D 247 247 0.000392465 missense 0.06 benign 0.25 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs754784308 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241256318 T null E K 247 247 missense 0.171 benign 0.17 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs775919823 2q37.3 2 241256313 C null I M 248 248 missense 0.081 benign 0.33 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2072608521 2q37.3 2 241256314 T null I N 248 248 missense 0.24 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ExAC,TOPMed,gnomAD rs566982506 2q37.3 2 241256315 C null I V 248 248 0.000196232 missense 0.081 benign 0.12 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2072608183 2q37.3 2 241256309 C null Q E 250 250 missense 0.054 benign 0.2 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs145890016 [ClinVar]: HDLBP-related disorder 2q37.3 2 241256304 G null E D 251 251 0.0060832 missense 0.043 benign 0.04 deleterious 1 HDLBP-related disorder ClinVar:RCV003928585 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2072607675 2q37.3 2 241256300 T null G S 253 253 missense 0.691 possibly damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein dbSNP,dbSNP,gnomAD rs1380894489 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241256297 C null T A 254 254 missense 0.007 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs772471761 2q37.3 2 241256294 A null R C 255 255 missense 0.988 probably damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,dbSNP,dbSNP,gnomAD rs1384832289 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241256293 T null R H 255 255 missense 0.815 possibly damaging 0.14 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs772471761 2q37.3 2 241256294 T null R S 255 255 missense 0.413 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2072606643 2q37.3 2 241256291 C null I V 256 256 missense 0.035 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs910873549 2q37.3 2 241256285 G null I L 258 258 missense 0.04 benign 0.05 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs910873549 2q37.3 2 241256285 C null I V 258 258 missense 0.011 benign 0.59 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ExAC,gnomAD rs201285919 2q37.3 2 241256278 A null P L 260 260 0.000196232 missense 0.868 possibly damaging 0.05 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ExAC,gnomAD rs201285919 2q37.3 2 241256278 T null P Q 260 260 0.000196232 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2072605392 2q37.3 2 241256275 A null P L 261 261 missense 0.097 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs779366383 2q37.3 2 241256276 A null P S 261 261 missense 0.042 benign 0.08 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1442356090 2q37.3 2 241256273 C null S G 262 262 missense 0.245 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs755531759 2q37.3 2 241256272 A null S I 262 262 missense 0.637 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs755531759 2q37.3 2 241256272 G null S T 262 262 missense 0.298 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs199760155 2q37.3 2 241256270 T null V M 263 263 missense 0.891 possibly damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1019959681 2q37.3 2 241256263 T null R Q 265 265 missense 0.177 benign 0.13 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,dbSNP,dbSNP,gnomAD rs756722367 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241256264 A null R W 265 265 missense 0.957 probably damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1264595005 2q37.3 2 241256261 C null T A 266 266 missense 0.177 benign 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs763710691 2q37.3 2 241256255 C null I V 268 268 missense 0.369 benign 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs762803485 2q37.3 2 241256252 T null V I 269 269 missense 0.024 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs2072603059 2q37.3 2 241256249 C null F V 270 270 missense 0.0 benign 0.29 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1218813713 2q37.3 2 241256246 C null T A 271 271 missense 0.046 benign 0.13 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs752578678 2q37.3 2 241256238 G null E D 273 273 missense 0.118 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl,dbSNP,dbSNP rs956892676 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241256233 C null E G 275 275 missense 0.837 possibly damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,TOPMed rs369501121 2q37.3 2 241256231 A null Q * 276 276 stop gained 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2072602133 2q37.3 2 241256229 G null Q H 276 276 missense 0.015 benign 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs759507598 2q37.3 2 241256224 A null A V 278 278 missense 0.115 benign 0.03 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1258620936 2q37.3 2 241256219 A null A S 280 280 missense 0.993 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ExAC,gnomAD rs766108090 2q37.3 2 241256210 A null R C 283 283 missense 0.864 possibly damaging 0.33 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,dbSNP,dbSNP,gnomAD rs1392123829 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241256209 T null R H 283 283 missense 0.697 possibly damaging 0.34 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1574936764 2q37.3 2 241256200 A null K M 286 286 missense 0.184 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1423168686 2q37.3 2 241256184 A null K N 291 291 missense 0.907 possibly damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein dbSNP,dbSNP,gnomAD rs1271212594 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241255575 G null K N 293 293 missense 0.127 benign 0.03 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1574934588 2q37.3 2 241255570 A null T I 295 295 missense 0.177 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs774557611 2q37.3 2 241255565 C null T A 297 297 missense 0.372 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1345871483 2q37.3 2 241255564 C null T S 297 297 missense 0.07 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs2072546449 2q37.3 2 241255561 G null I T 298 298 missense 0.294 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1262602197 2q37.3 2 241255562 C null I V 298 298 missense 0.156 benign 0.35 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2072545977 2q37.3 2 241255551 G null E D 301 301 missense 0.807 possibly damaging 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1352895994 2q37.3 2 241255546 C null K R 303 303 missense 0.043 benign 0.26 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs768946845 2q37.3 2 241255540 C null S C 305 305 missense 0.98 probably damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs768946845 2q37.3 2 241255540 A null S F 305 305 missense 0.36 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2072545045 2q37.3 2 241255523 G null I L 311 311 missense 0.046 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2072544228 2q37.3 2 241255513 C null K R 314 314 missense 0.356 benign 0.33 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,gnomAD rs145139653 2q37.3 2 241255510 G null G A 315 315 missense 0.965 probably damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1028361939 2q37.3 2 241255504 T null S * 317 317 missense 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2072542747 2q37.3 2 241255496 T null E K 320 320 missense 0.875 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2072542460 2q37.3 2 241255487 T null E K 323 323 missense 0.072 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs916729106 2q37.3 2 241255483 T null R K 324 324 missense 0.0 benign 0.59 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs746504056 2q37.3 2 241255471 C null S C 328 328 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ExAC,TOPMed,gnomAD rs556038051 2q37.3 2 241255469 T null V I 329 329 0.000392465 missense 0.804 possibly damaging 0.21 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2072541261 2q37.3 2 241255464 A null E D 330 330 missense 0.459 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs747745784 2q37.3 2 241255463 G null I L 331 331 missense 0.005 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs747745784 2q37.3 2 241255463 C null I V 331 331 missense 0.007 benign 0.3 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,gnomAD rs145626561 2q37.3 2 241255456 T null P H 333 333 missense 0.892 possibly damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,gnomAD rs145626561 2q37.3 2 241255456 A null P L 333 333 missense 0.619 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1417592410 2q37.3 2 241255450 C null D G 335 335 missense 0.154 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1468450061 2q37.3 2 241255444 T null I N 337 337 missense 0.0 benign 0.43 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1222715616 2q37.3 2 241255430 C null I V 342 342 missense 0.101 benign 0.2 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein dbSNP,dbSNP,gnomAD rs1231378912 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 2q37.3 2 241255424 A null R * 344 344 missense 1 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1167605599 2q37.3 2 241255423 A null R L 344 344 missense 0.61 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1167605599 2q37.3 2 241255423 T null R Q 344 344 missense 0.877 possibly damaging 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs753729962 2q37.3 2 241255418 T null E K 346 346 missense 0.637 possibly damaging 0.03 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1242565449 2q37.3 2 241255415 C null P A 347 347 missense 0.705 possibly damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1196986399 2q37.3 2 241255409 C null K E 349 349 missense 0.075 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs755960637 2q37.3 2 241255407 G null K N 349 349 missense 0.046 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs750410025 2q37.3 2 241255398 G null Q H 352 352 missense 0.096 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs761890384 2q37.3 2 241255381 C null Y C 358 358 missense 0.784 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1490281928 2q37.3 2 241255379 T null A T 359 359 missense 0.505 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2072513702 2q37.3 2 241255155 C null N D 362 362 missense 0.206 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1223649745 2q37.3 2 241255154 C null N S 362 362 missense 0.249 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs931675738 2q37.3 2 241255148 G null F S 364 364 missense 0.075 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs2072512494 2q37.3 2 241255146 A null T S 365 365 missense 0.045 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1335040082 2q37.3 2 241255142 G null V A 366 366 missense 0.164 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs201275944 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241255143 T null V I 366 366 0.000392465 missense 0.035 benign 0.16 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1382121364 2q37.3 2 241255140 C null S A 367 367 missense 0.003 benign 0.43 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ExAC,TOPMed,gnomAD rs566762728 2q37.3 2 241255139 C null S C 367 367 0.000196232 missense 0.811 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ExAC,TOPMed,gnomAD rs566762728 2q37.3 2 241255139 A null S F 367 367 0.000196232 missense 0.543 possibly damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs918799841 2q37.3 2 241255136 C null S C 368 368 missense 0.45 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs745739712 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241255131 T null A T 370 370 missense 0.003 benign 0.56 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1275433961 2q37.3 2 241255128 G null A P 371 371 missense 0.619 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1275433961 2q37.3 2 241255128 T null A T 371 371 missense 0.961 probably damaging 0.02 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147572258 2q37.3 2 241255125 C null P A 372 372 missense 0.391 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2072508369 2q37.3 2 241255121 A null S F 373 373 missense 0.884 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1210201866 2q37.3 2 241255112 C null H R 376 376 missense 0.489 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1431820924 2q37.3 2 241255091 C null K R 383 383 missense 0.069 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs780063807 2q37.3 2 241255084 A null Q H 385 385 missense 0.178 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs777790935 2q37.3 2 241255073 C null K R 389 389 missense 0.025 benign 0.46 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs777790935 2q37.3 2 241255073 G null K T 389 389 missense 0.074 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs758477634 2q37.3 2 241255071 C null I V 390 390 missense 0.019 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2072506183 2q37.3 2 241255065 C null Q E 392 392 missense 0.003 benign 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs752851077 2q37.3 2 241255062 T null Q K 393 393 missense 0.031 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1200856333 2q37.3 2 241255059 G null M L 394 394 missense 0.0 benign 0.72 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs765562077 2q37.3 2 241255056 A null P S 395 395 missense 0.135 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1267158668 2q37.3 2 241255053 C null K E 396 396 missense 0.71 possibly damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1321295286 2q37.3 2 241253496 C null V G 397 397 missense 0.933 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1290083060 2q37.3 2 241253497 T null V I 397 397 missense 0.057 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2072366525 2q37.3 2 241253493 C null H R 398 398 missense 0.276 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs940546201 2q37.3 2 241253491 C null I V 399 399 missense 0.007 benign 0.16 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1559506203 2q37.3 2 241253476 T null G S 404 404 missense 0.239 benign 0.05 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2072364914 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241253473 T null E K 405 405 missense 0.033 benign 0.05 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs756565008 2q37.3 2 241253468 C null D E 406 406 missense 0.057 benign 0.38 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1304599664 2q37.3 2 241253470 T null D N 406 406 missense 0.072 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs2072363993 2q37.3 2 241253467 C null K E 407 407 missense 0.031 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs188141511 2q37.3 2 241253466 C null K R 407 407 0.000392465 missense 0.006 benign 0.36 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1186578519 2q37.3 2 241253462 C null I M 408 408 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs2072362871 2q37.3 2 241253448 A null P L 413 413 missense 0.207 benign 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1450010232 2q37.3 2 241253449 A null P S 413 413 missense 0.571 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1170200390 2q37.3 2 241253446 C null T A 414 414 missense 0.056 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1323220004 2q37.3 2 241253440 A null D Y 416 416 missense 0.143 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1454767196 2q37.3 2 241253437 T null V I 417 417 missense 0.383 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ExAC,gnomAD rs568215896 2q37.3 2 241253434 G null N H 418 418 0.000196232 missense 0.267 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs7578199 2q37.3 2 241253433 C null N S 418 418 missense 1 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs7578199 2q37.3 2 241253433 G null N T 418 418 missense 0.015 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ExAC,gnomAD rs568215896 2q37.3 2 241253434 A null N Y 418 418 0.000196232 missense 0.774 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,TOPMed,gnomAD rs143089046 2q37.3 2 241253427 A null A V 420 420 missense 0.089 benign 0.32 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2072359739 2q37.3 2 241253425 A null Q * 421 421 stop gained 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1249810478 2q37.3 2 241253424 A null Q L 421 421 missense 0.075 benign 0.05 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1249810478 2q37.3 2 241253424 C null Q R 421 421 missense 0.015 benign 0.21 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1319981187 2q37.3 2 241253418 C null Q R 423 423 missense 0.105 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs776269894 2q37.3 2 241253411 G null E D 425 425 missense 0.065 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein dbSNP,dbSNP,gnomAD rs1258700672 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241253405 T null M I 427 427 missense 0.001 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1485508430 2q37.3 2 241253406 G null M T 427 427 missense 0.003 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1366512900 2q37.3 2 241253407 C null M V 427 427 missense 0.006 benign 0.05 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1361084095 2q37.3 2 241253403 C null V G 428 428 missense 0.594 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1223550181 2q37.3 2 241253404 G null V L 428 428 missense 0.103 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1282766552 2q37.3 2 241253400 A null K I 429 429 missense 0.084 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs899877903 2q37.3 2 241253397 A null D V 430 430 missense 0.697 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2072322385 2q37.3 2 241253034 C null I S 432 432 missense 0.113 benign 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1259146230 2q37.3 2 241253035 C null I V 432 432 missense 0.017 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs778201425 2q37.3 2 241253028 T null R Q 434 434 missense 0.895 possibly damaging 0.02 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2072322009 2q37.3 2 241253029 A null R W 434 434 missense 0.994 probably damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1208333007 2q37.3 2 241253024 T null M I 435 435 missense 0.357 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2072321632 2q37.3 2 241253026 A null M L 435 435 missense 0.013 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs754453807 2q37.3 2 241253019 C null Y C 437 437 missense 0.1 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1393623110 2q37.3 2 241253012 A null E D 439 439 missense 0.482 possibly damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs765897287 2q37.3 2 241253011 A null I F 440 440 missense 0.907 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1470218667 2q37.3 2 241253009 C null I M 440 440 missense 0.82 possibly damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs923651807 2q37.3 2 241253010 G null I T 440 440 missense 0.958 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs114345925 2q37.3 2 241253007 C null N S 441 441 0.000392465 missense 0.03 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs114345925 2q37.3 2 241253007 G null N T 441 441 0.000392465 missense 0.03 benign 0.38 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs2072319753 2q37.3 2 241253005 C null I V 442 442 missense 0.018 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1169568768 2q37.3 2 241253000 T null D E 443 443 missense 0.964 probably damaging 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs967948797 2q37.3 2 241253002 T null D N 443 443 missense 0.942 probably damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2072319000 2q37.3 2 241252996 C null K E 445 445 missense 0.26 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs761574565 2q37.3 2 241252987 C null R G 448 448 missense 0.381 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1437474732 2q37.3 2 241252966 T null G S 455 455 missense 0.993 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2072317717 2q37.3 2 241252960 G null N H 457 457 missense 0.496 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2071997986 2q37.3 2 241249977 A null N I 459 459 missense 0.915 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs772433542 2q37.3 2 241249972 C null I V 461 461 missense 0.402 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs748599607 2q37.3 2 241249969 C null K E 462 462 missense 0.738 possibly damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs2071997318 2q37.3 2 241249966 G null D H 463 463 missense 0.119 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1559501621 2q37.3 2 241249963 C null Q E 464 464 missense 0.003 benign 0.42 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1358861208 2q37.3 2 241249959 C null Y C 465 465 missense 0.02 benign 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1382355136 2q37.3 2 241249955 G null K N 466 466 missense 0.156 benign 0.07 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,dbSNP,dbSNP,gnomAD rs755620029 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241249956 C null K R 466 466 missense 0.542 possibly damaging 0.05 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs997824640 2q37.3 2 241249950 A null S F 468 468 missense 0.47 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes rs573105480 2q37.3 2 241249947 G null V A 469 469 0.000196232 missense 0.901 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1384636597 2q37.3 2 241249948 G null V L 469 469 missense 0.824 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1384636597 2q37.3 2 241249948 T null V M 469 469 missense 0.901 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,dbSNP,dbSNP,gnomAD rs1180226952 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241249945 A null R C 470 470 missense 0.984 probably damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2149453045 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241249944 T null R H 470 470 missense 0.276 benign 0.06 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs780871072 2q37.3 2 241249942 C null I V 471 471 missense 0.682 possibly damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1052841532 2q37.3 2 241249935 A null P L 473 473 missense 0.32 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1192906299 2q37.3 2 241249936 T null P T 473 473 missense 0.346 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2071992550 2q37.3 2 241249920 T null S N 478 478 missense 0.051 benign 0.22 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs758279727 2q37.3 2 241249916 C null N K 479 479 missense 0.027 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2071992321 2q37.3 2 241249917 C null N S 479 479 missense 0.009 benign 0.15 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1222304781 2q37.3 2 241249914 G null L S 480 480 missense 0.027 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs752666961 2q37.3 2 241249909 A null R C 482 482 missense 0.974 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1271362034 2q37.3 2 241249908 T null R H 482 482 missense 0.974 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs765331558 2q37.3 2 241249906 C null I V 483 483 missense 0.489 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1447913820 2q37.3 2 241249903 T null E K 484 484 missense 0.993 probably damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1428559202 2q37.3 2 241249893 A null P L 487 487 missense 0.381 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs760744082 2q37.3 2 241249885 A null V L 490 490 missense 0.938 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs760744082 2q37.3 2 241249885 T null V M 490 490 missense 0.993 probably damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs773438416 2q37.3 2 241249876 A null A S 493 493 missense 0.915 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs772415501 2q37.3 2 241249875 A null A V 493 493 missense 0.796 possibly damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,dbSNP,dbSNP,gnomAD rs1420844409 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 2q37.3 2 241249870 A null R * 495 495 missense 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,gnomAD rs370192530 2q37.3 2 241249869 T null R Q 495 495 missense 0.003 benign 0.22 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein dbSNP,dbSNP,gnomAD rs1200637799 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241249846 A null R C 503 503 missense 0.939 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1200637799 2q37.3 2 241249846 C null R G 503 503 missense 0.183 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,dbSNP,dbSNP,gnomAD rs151140223 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241249845 T null R H 503 503 missense 0.919 probably damaging 0.07 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1190768773 2q37.3 2 241249841 T null M I 504 504 missense 0.054 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1023568942 2q37.3 2 241249843 C null M V 504 504 missense 0.177 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1421950518 2q37.3 2 241248347 C null E G 505 505 missense 0.933 probably damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2071842108 2q37.3 2 241248339 A null R C 508 508 missense 0.623 possibly damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1263823381 2q37.3 2 241248338 T null R H 508 508 missense 0.391 benign 0.1 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1439509990 2q37.3 2 241248333 C null K E 510 510 missense 0.276 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs767610900 2q37.3 2 241248327 T null L I 512 512 missense 0.073 benign 0.24 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs767610900 2q37.3 2 241248327 C null L V 512 512 missense 0.073 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs761986466 2q37.3 2 241248323 C null I S 513 513 missense 0.209 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2071840382 2q37.3 2 241248319 C null I M 514 514 missense 0.97 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1282899775 2q37.3 2 241248318 T null E K 515 515 missense 0.075 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs764310403 2q37.3 2 241248306 A null H Y 519 519 missense 0.837 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2071839341 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241248303 A null R C 520 520 missense 0.968 probably damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1559499253 2q37.3 2 241248302 T null R H 520 520 missense 0.391 benign 0.03 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs775858829 2q37.3 2 241248295 C null I M 522 522 missense 0.923 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs763435125 2q37.3 2 241248297 C null I V 522 522 missense 0.446 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2071838265 2q37.3 2 241248288 C null Q E 525 525 missense 0.169 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2149445342 2q37.3 2 241248275 T null R Q 529 529 missense 0.075 benign 0.04 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1559499185 2q37.3 2 241248276 A null R W 529 529 missense 0.903 possibly damaging 0.04 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1460165009 2q37.3 2 241248270 A null R C 531 531 missense 0.938 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1340226483 2q37.3 2 241248269 T null R H 531 531 missense 0.537 possibly damaging 0.12 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs760239912 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241248261 A null R C 534 534 missense 0.14 benign 0.04 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein dbSNP,dbSNP,gnomAD rs1406351960 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241248260 T null R H 534 534 missense 0.573 possibly damaging 0.02 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1365848414 2q37.3 2 241248255 G null K Q 536 536 missense 0.176 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1162100393 2q37.3 2 241248254 C null K R 536 536 missense 0.063 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs772808360 2q37.3 2 241248252 C null F V 537 537 missense 0.834 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs2071835796 2q37.3 2 241248249 T null P T 538 538 missense 0.677 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1559498875 2q37.3 2 241248113 C null I V 541 541 missense 0.135 benign 0.14 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1029749733 2q37.3 2 241248101 C null P A 545 545 missense 0.913 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs770255776 2q37.3 2 241248098 G null D H 546 546 missense 0.44 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1453151552 2q37.3 2 241248094 A null P L 547 547 missense 0.291 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs745750949 2q37.3 2 241248083 C null S G 551 551 missense 0.427 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs781166307 2q37.3 2 241248076 T null I N 553 553 missense 0.181 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs781166307 2q37.3 2 241248076 G null I T 553 553 missense 0.051 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs747154508 2q37.3 2 241248059 C null P A 559 559 missense 0.594 possibly damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs747154508 2q37.3 2 241248059 A null P S 559 559 missense 0.705 possibly damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs748517409 2q37.3 2 241248055 C null K R 560 560 missense 0.035 benign 0.34 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1213442886 2q37.3 2 241248049 C null E G 562 562 missense 0.726 possibly damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2071815782 2q37.3 2 241248050 G null E Q 562 562 missense 0.726 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1394634926 2q37.3 2 241248047 T null V M 563 563 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1346242316 2q37.3 2 241248040 G null K T 565 565 missense 0.582 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1303307976 2q37.3 2 241248034 A null T I 567 567 missense 0.075 benign 0.2 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs894283509 2q37.3 2 241248023 C null Q E 571 571 missense 0.021 benign 0.15 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs752867460 2q37.3 2 241248015 G null M I 573 573 missense 0.007 benign 0.34 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed rs758598415 2q37.3 2 241248016 G null M T 573 573 missense 0.046 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1170624294 2q37.3 2 241248017 C null M V 573 573 missense 0.011 benign 0.41 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1452996011 2q37.3 2 241248011 T null A T 575 575 missense 0.081 benign 0.14 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs755449911 2q37.3 2 241248010 A null A V 575 575 missense 0.267 benign 0.04 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs2071811705 2q37.3 2 241248008 A null D Y 576 576 missense 0.848 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2149444145 2q37.3 2 241248005 C null L V 577 577 missense 0.074 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1474309862 2q37.3 2 241247134 T null N K 580 580 missense 0.324 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs780583839 2q37.3 2 241247135 C null N S 580 580 missense 0.06 benign 0.26 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs11555545 2q37.3 2 241247132 G null S T 581 581 missense 0.318 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs937344069 2q37.3 2 241247124 C null I V 584 584 missense 0.0 benign 0.76 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs769058847 2q37.3 2 241247115 C null P A 587 587 missense 0.027 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs756644872 2q37.3 2 241247114 A null P L 587 587 missense 0.162 benign 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs769058847 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241247115 A null P S 587 587 missense 0.045 benign 0.01 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs763604849 2q37.3 2 241247093 C null K R 594 594 missense 0.007 benign 0.12 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1358923618 2q37.3 2 241247090 C null N S 595 595 missense 0.042 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ExAC,gnomAD rs181729976 2q37.3 2 241247084 G null I T 597 597 0.000196232 missense 0.973 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs764911830 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241247070 T null A T 602 602 missense 0.075 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1161917676 2q37.3 2 241247069 A null A V 602 602 missense 0.109 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs776362305 2q37.3 2 241247065 C null N K 603 603 missense 0.537 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs759306459 2q37.3 2 241247066 G null N T 603 603 missense 0.219 benign 0.17 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs918561418 2q37.3 2 241246879 T null R H 608 608 missense 0.966 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2071720955 2q37.3 2 241246871 A null S C 611 611 missense 0.001 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1217931932 2q37.3 2 241246856 T null D N 616 616 missense 0.08 benign 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs770193034 2q37.3 2 241246839 C null N K 621 621 missense 0.181 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1444526185 2q37.3 2 241246834 C null N S 623 623 missense 0.046 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl,dbSNP,dbSNP rs1559497220 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241246831 A null S L 624 624 missense 0.25 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2071718462 2q37.3 2 241246823 G null I L 627 627 missense 0.051 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1559497205 2q37.3 2 241246817 C null I V 629 629 missense 0.014 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs746261841 2q37.3 2 241246813 C null T R 630 630 missense 0.053 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl,dbSNP,dbSNP rs1559497188 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 2q37.3 2 241246805 A null R * 633 633 missense 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs757658659 2q37.3 2 241246804 G null R P 633 633 missense 0.0 benign 0.15 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs757658659 2q37.3 2 241246804 T null R Q 633 633 missense 0.0 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs747546844 2q37.3 2 241246798 C null N S 635 635 missense 0.072 benign 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1002069225 2q37.3 2 241246793 T null E K 637 637 missense 0.018 benign 0.02 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1483735019 2q37.3 2 241246787 A null A S 639 639 missense 0.886 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,dbSNP,dbSNP,gnomAD rs777767470 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241246783 T null R Q 640 640 missense 0.082 benign 0.05 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs754540075 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241246784 A null R W 640 640 missense 0.934 probably damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2071715272 2q37.3 2 241246781 A null S C 641 641 missense 0.298 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2071715081 2q37.3 2 241246780 T null S N 641 641 missense 0.0 benign 0.76 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2071714888 2q37.3 2 241246775 A null I F 643 643 missense 0.915 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs2071714707 2q37.3 2 241246768 C null S C 645 645 missense 0.223 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,gnomAD rs149428713 2q37.3 2 241242674 C null N S 652 652 missense 0.005 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1256845609 2q37.3 2 241242672 C null I V 653 653 missense 0.009 benign 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs755680102 2q37.3 2 241242666 T null E K 655 655 missense 0.162 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2149416483 2q37.3 2 241242663 T null V I 656 656 missense 0.003 benign 0.24 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2071358451 2q37.3 2 241242659 C null E G 657 657 missense 0.054 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1243642652 2q37.3 2 241242657 A null V F 658 658 missense 0.152 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1243642652 2q37.3 2 241242657 T null V I 658 658 missense 0.003 benign 0.21 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs767156507 2q37.3 2 241242649 C null I M 660 660 missense 0.99 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs757179990 2q37.3 2 241242648 T null P T 661 661 missense 0.92 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2071356893 2q37.3 2 241242645 G null A P 662 662 missense 0.003 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1184810683 2q37.3 2 241242641 C null K R 663 663 missense 0.176 benign 0.13 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1238138959 2q37.3 2 241242639 C null L V 664 664 missense 0.117 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,gnomAD rs376700640 2q37.3 2 241242623 G null I T 669 669 missense 0.323 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2071355157 2q37.3 2 241242624 C null I V 669 669 missense 0.447 possibly damaging 0.05 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs775384709 2q37.3 2 241242617 T null T N 671 671 missense 0.003 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1156288804 2q37.3 2 241242612 T null G S 673 673 missense 0.947 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1426076682 2q37.3 2 241242609 A null R C 674 674 missense 0.007 benign 0.26 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs765392068 2q37.3 2 241242608 T null R H 674 674 missense 0.181 benign 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs776926351 2q37.3 2 241242600 A null R C 677 677 missense 0.771 possibly damaging 0.02 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs2071350057 2q37.3 2 241242599 T null R H 677 677 missense 0.009 benign 0.01 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1194166211 2q37.3 2 241242597 T null S T 678 678 missense 0.079 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2071349036 2q37.3 2 241242594 C null I V 679 679 missense 0.018 benign 0.17 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs2071348515 2q37.3 2 241242591 A null M L 680 680 missense 0.024 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1262826847 2q37.3 2 241242590 G null M T 680 680 missense 0.051 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs2071348515 2q37.3 2 241242591 C null M V 680 680 missense 0.015 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2071348089 2q37.3 2 241242588 A null E * 681 681 stop gained 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1266133167 2q37.3 2 241242579 T null G S 684 684 missense 0.062 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl,dbSNP,dbSNP rs757259747 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241242572 C null V G 686 686 missense 0.926 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1320486746 2q37.3 2 241242573 T null V I 686 686 missense 0.349 benign 0.12 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs2071346622 2q37.3 2 241242569 C null H R 687 687 missense 0.0 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs2071346173 2q37.3 2 241242567 C null I V 688 688 missense 0.123 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2071345817 2q37.3 2 241242564 A null H Y 689 689 missense 0.062 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140921483 2q37.3 2 241242555 T null V M 692 692 0.000392465 missense 0.0 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1219258173 2q37.3 2 241242549 G null G R 694 694 missense 0.121 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs751452385 2q37.3 2 241242542 T null G E 696 696 missense 0.003 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,dbSNP,dbSNP,gnomAD rs1019420712 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241242537 T null D N 698 698 missense 0.044 benign 0.01 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2071342582 2q37.3 2 241242533 A null T I 699 699 missense 0.014 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs202096199 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241242531 T null V I 700 700 missense 0.18 benign 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1477335554 2q37.3 2 241242528 T null V I 701 701 missense 0.001 benign 0.25 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1477335554 2q37.3 2 241242528 G null V L 701 701 missense 0.0 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146439982 2q37.3 2 241242523 C null I M 702 702 0.000588697 missense 0.881 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs759720651 2q37.3 2 241242512 A null S F 706 706 missense 0.135 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs909483686 2q37.3 2 241242513 T null S T 706 706 missense 0.045 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs151299167 2q37.3 2 241242509 A null S L 707 707 missense 0.0 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1374059225 2q37.3 2 241242503 G null V A 709 709 missense 0.054 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs983647050 2q37.3 2 241242504 G null V L 709 709 missense 0.264 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs760907330 2q37.3 2 241242496 A null K N 711 711 missense 0.035 benign 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs773522283 2q37.3 2 241242491 G null K T 713 713 missense 0.443 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs762165124 2q37.3 2 241242489 C null K E 714 714 missense 0.0 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs762165124 2q37.3 2 241242489 G null K Q 714 714 missense 0.0 benign 0.17 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1304230191 2q37.3 2 241242476 A null H L 718 718 missense 0.0 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1234910093 2q37.3 2 241242470 A null A V 720 720 missense 0.003 benign 0.05 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs769186742 2q37.3 2 241242467 C null E G 721 721 missense 0.007 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2149415349 2q37.3 2 241242468 G null E Q 721 721 missense 0.001 benign 0.05 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1384627037 2q37.3 2 241242465 T null E K 722 722 missense 0.001 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs745427451 2q37.3 2 241242460 G null K N 723 723 missense 0.07 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1401851553 2q37.3 2 241242461 C null K R 723 723 missense 0.0 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1183327892 2q37.3 2 241240118 C null T S 725 725 missense 0.0 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2071054638 2q37.3 2 241240103 G null V A 730 730 missense 0.0 benign 0.58 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1424008744 2q37.3 2 241240104 A null V F 730 730 missense 0.26 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1339596954 2q37.3 2 241240096 C null I M 732 732 missense 0.022 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs754903566 2q37.3 2 241240095 A null R C 733 733 missense 0.411 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs115571292 [ClinVar]: HDLBP-related disorder 2q37.3 2 241240094 T null R H 733 733 0.00647567 missense 0.0 benign 0.45 tolerated 0 HDLBP-related disorder ClinVar:RCV003950618 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs756241811 2q37.3 2 241240092 T null A T 734 734 missense 0.114 benign 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1405888654 2q37.3 2 241240082 C null E G 737 737 missense 0.039 benign 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1335810214 2q37.3 2 241240071 C null F V 741 741 missense 0.024 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs757542367 2q37.3 2 241240065 C null I V 743 743 missense 0.123 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,gnomAD rs143103039 2q37.3 2 241240062 G null G R 744 744 missense 0.872 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,gnomAD rs143103039 2q37.3 2 241240062 T null G S 744 744 missense 0.599 possibly damaging 0.09 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2071050584 2q37.3 2 241240061 A null G V 744 744 missense 0.957 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs2071050351 2q37.3 2 241240059 C null K E 745 745 missense 0.114 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs906480587 2q37.3 2 241240055 T null G E 746 746 missense 0.752 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs763451461 2q37.3 2 241240056 G null G R 746 746 missense 0.139 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs763451461 2q37.3 2 241240056 A null G W 746 746 missense 0.986 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1574877615 2q37.3 2 241240052 T null G D 747 747 missense 0.761 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1574877615 2q37.3 2 241240052 A null G V 747 747 missense 0.926 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs199968516 2q37.3 2 241240049 T null G D 748 748 missense 0.009 benign 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,dbSNP,dbSNP,gnomAD rs1486987244 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241240050 T null G S 748 748 missense 0.0 benign 0.13 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs199968516 2q37.3 2 241240049 A null G V 748 748 missense 0.005 benign 0.05 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,dbSNP,dbSNP,gnomAD rs760329761 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241240041 A null R C 751 751 missense 0.411 benign 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs772976334 2q37.3 2 241240040 T null R H 751 751 missense 0.024 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs893602391 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241240036 A null K N 752 752 missense 0.915 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1220298990 2q37.3 2 241240035 A null V L 753 753 missense 0.0 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs141380467 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241240032 A null R C 754 754 missense 0.233 benign 0.11 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein dbSNP,dbSNP,gnomAD rs1399655029 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241240031 T null R H 754 754 missense 0.956 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2071045984 2q37.3 2 241240029 T null D N 755 755 missense 0.057 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2149395279 2q37.3 2 241240023 C null T A 757 757 missense 0.194 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs780030761 2q37.3 2 241240022 C null T S 757 757 missense 0.127 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1175857333 2q37.3 2 241240016 A null A V 759 759 missense 0.056 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs2071044504 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241240014 A null R C 760 760 missense 0.017 benign 0.02 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,gnomAD rs370186689 2q37.3 2 241240013 T null R H 760 760 missense 0.085 benign 0.08 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,gnomAD rs370186689 2q37.3 2 241240013 A null R L 760 760 missense 0.112 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,dbSNP,dbSNP,gnomAD rs1424807099 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241240010 G null V A 761 761 missense 0.022 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC rs751738727 2q37.3 2 241240008 A null I F 762 762 missense 0.005 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs11555548 2q37.3 2 241240001 A null P L 764 764 missense 0.194 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1159214190 2q37.3 2 241239999 G null A P 765 765 missense 0.0 benign 0.01 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs758748107 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241239998 A null A V 765 765 missense 0.005 benign 0.04 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1247911599 2q37.3 2 241239986 G null K T 769 769 missense 0.017 benign 0.19 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1030179762 2q37.3 2 241239984 G null D H 770 770 missense 0.939 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2071041822 2q37.3 2 241239978 A null D Y 772 772 missense 0.024 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs2071041606 2q37.3 2 241239975 C null L V 773 773 missense 0.003 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2071041364 2q37.3 2 241239968 A null T I 775 775 missense 0.052 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1009876583 2q37.3 2 241239966 C null I V 776 776 missense 0.028 benign 0.35 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,gnomAD rs375902370 2q37.3 2 241239963 A null I F 777 777 missense 0.009 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs765886386 2q37.3 2 241239962 G null I T 777 777 missense 0.0 benign 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,gnomAD rs375902370 2q37.3 2 241239963 C null I V 777 777 missense 0.0 benign 0.78 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1449882818 2q37.3 2 241239952 A null E D 780 780 missense 0.065 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ExAC,TOPMed,gnomAD rs200770509 2q37.3 2 241239949 C null D E 781 781 0.000196232 missense 0.0 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,dbSNP,dbSNP,gnomAD rs1200458864 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241239948 T null A T 782 782 missense 0.176 benign 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs772806420 2q37.3 2 241239947 A null A V 782 782 missense 0.176 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs761469892 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241239945 T null V I 783 783 missense 0.04 benign 0.01 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,dbSNP,dbSNP,gnomAD rs1214801603 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 2q37.3 2 241239942 A null R * 784 784 missense 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs773929734 2q37.3 2 241239941 T null R Q 784 784 missense 0.0 benign 0.14 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs2071037284 2q37.3 2 241239918 A null A S 792 792 missense 0.0 benign 0.25 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs2071037087 2q37.3 2 241239917 A null A V 792 792 missense 0.003 benign 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,TOPMed,gnomAD rs149815299 2q37.3 2 241239914 G null L S 793 793 missense 0.006 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140276168 2q37.3 2 241239915 C null L V 793 793 0.00255102 missense 0.006 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1401427824 2q37.3 2 241239912 C null I V 794 794 missense 0.001 benign 0.21 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs745840916 2q37.3 2 241239909 C null Q E 795 795 missense 0.0 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1407833046 2q37.3 2 241239908 C null Q R 795 795 missense 0.0 benign 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1574876946 2q37.3 2 241239905 G null N T 796 796 missense 0.006 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2071024474 2q37.3 2 241239819 C null D G 798 798 missense 0.456 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1237865950 2q37.3 2 241239817 C null N D 799 799 missense 0.024 benign 0.24 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs919543833 2q37.3 2 241239810 G null V A 801 801 missense 0.413 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1478583172 2q37.3 2 241239811 A null V L 801 801 missense 0.294 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs761359186 2q37.3 2 241239806 G null E D 802 802 missense 0.097 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1221036289 2q37.3 2 241239808 T null E K 802 802 missense 0.355 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs748384140 2q37.3 2 241239805 T null D N 803 803 missense 0.163 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs779363266 2q37.3 2 241239801 A null S F 804 804 missense 0.015 benign 0.82 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2071022017 2q37.3 2 241239793 T null V M 807 807 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1192379452 2q37.3 2 241239787 C null P A 809 809 missense 0.355 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs754362167 2q37.3 2 241239786 C null P R 809 809 missense 0.073 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs780463546 2q37.3 2 241239780 G null H P 811 811 missense 0.134 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs79678263 2q37.3 2 241239777 A null H L 812 812 missense 0.653 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs79678263 2q37.3 2 241239777 G null H P 812 812 missense 0.985 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs79678263 2q37.3 2 241239777 C null H R 812 812 missense 0.989 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,dbSNP,dbSNP,gnomAD rs750987672 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241239774 T null R H 813 813 missense 0.593 possibly damaging 0.08 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,TOPMed,gnomAD rs910628111 2q37.3 2 241239771 C null H R 814 814 missense 0.164 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs763692759 2q37.3 2 241239766 T null V I 816 816 missense 0.069 benign 0.04 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,TOPMed,gnomAD rs200702604 2q37.3 2 241239759 T null R H 818 818 missense 0.911 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1181112753 2q37.3 2 241239756 T null R K 819 819 missense 0.024 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs762530439 2q37.3 2 241239749 G null Q H 821 821 missense 0.062 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2071015144 2q37.3 2 241239748 G null V L 822 822 missense 0.028 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,dbSNP,gnomAD rs371053785 [ClinVar]: Marfanoid habitus and intellectual disability 2q37.3 2 241239742 C null R G 824 824 missense 0.957 probably damaging 0.0 deleterious 0 Marfanoid habitus and intellectual disability ClinVar:RCV000850416 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,gnomAD rs377448064 2q37.3 2 241239741 T null R Q 824 824 missense 0.562 possibly damaging 0.07 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,gnomAD rs371053785 2q37.3 2 241239742 A null R W 824 824 missense 0.994 probably damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein dbSNP,dbSNP,gnomAD rs1488623926 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241239730 T null E K 828 828 missense 0.083 benign 0.04 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs759392733 2q37.3 2 241239725 G null E D 829 829 missense 0.067 benign 0.12 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,gnomAD rs151104717 2q37.3 2 241239723 C null Y C 830 830 missense 0.003 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1366543397 2q37.3 2 241239724 G null Y H 830 830 missense 0.825 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1324079070 2q37.3 2 241239721 T null G S 831 831 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2071011751 2q37.3 2 241239718 T null G R 832 832 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs200802562 2q37.3 2 241239714 C null V G 833 833 missense 0.184 benign 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1356866448 2q37.3 2 241239715 A null V L 833 833 missense 0.456 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1279638603 2q37.3 2 241239710 T null M I 834 834 missense 0.003 benign 0.46 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC rs772290900 2q37.3 2 241239711 T null M K 834 834 missense 0.121 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs773097426 2q37.3 2 241239712 C null M V 834 834 missense 0.014 benign 0.33 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC rs199506125 2q37.3 2 241239708 G null V A 835 835 missense 0.904 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC rs199506125 2q37.3 2 241239708 C null V G 835 835 missense 0.991 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC rs748367542 2q37.3 2 241239709 G null V L 835 835 missense 0.865 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs749661867 2q37.3 2 241239706 C null S G 836 836 missense 0.496 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed rs780486771 2q37.3 2 241239705 T null S N 836 836 missense 0.12 benign 0.12 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1452768247 2q37.3 2 241239700 A null P S 838 838 missense 0.968 probably damaging 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1213028910 2q37.3 2 241239696 T null R H 839 839 missense 0.337 benign 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1459355982 2q37.3 2 241239687 C null T R 842 842 missense 0.029 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs756541532 2q37.3 2 241239683 G null Q H 843 843 missense 0.017 benign 0.17 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,gnomAD rs147457010 2q37.3 2 241239680 T null S R 844 844 missense 0.968 probably damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs757966131 2q37.3 2 241239679 T null D N 845 845 missense 0.081 benign 0.13 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1280232163 2q37.3 2 241239676 C null K E 846 846 missense 0.115 benign 0.05 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs904896800 2q37.3 2 241239675 C null K R 846 846 missense 0.01 benign 0.52 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs904896800 2q37.3 2 241239675 G null K T 846 846 missense 0.051 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1196053898 2q37.3 2 241239669 A null T I 848 848 missense 0.019 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1444255918 2q37.3 2 241239664 C null K E 850 850 missense 0.118 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ExAC,TOPMed,gnomAD rs532145414 2q37.3 2 241239658 G null A P 852 852 missense 0.007 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ExAC,TOPMed,gnomAD rs532145414 2q37.3 2 241239658 T null A T 852 852 missense 0.267 benign 0.02 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1416228775 2q37.3 2 241239657 A null A V 852 852 missense 0.267 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs766199413 2q37.3 2 241239651 C null D G 854 854 missense 0.042 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1158451246 2q37.3 2 241239640 T null A T 858 858 missense 0.355 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs773259310 2q37.3 2 241239636 C null A G 859 859 missense 0.954 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2071003427 2q37.3 2 241239633 C null K R 860 860 missense 0.04 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs767701164 2q37.3 2 241239628 A null R C 862 862 missense 0.125 benign 0.02 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs767701164 2q37.3 2 241239628 C null R G 862 862 missense 0.44 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs762020447 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241239627 T null R H 862 862 missense 0.116 benign 0.09 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs762020447 2q37.3 2 241239627 A null R L 862 862 missense 0.267 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs774689627 2q37.3 2 241239625 C null I V 863 863 missense 0.44 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs749559163 2q37.3 2 241239612 G null I T 867 867 missense 0.092 benign 0.07 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,gnomAD rs144556840 2q37.3 2 241239605 C null D E 869 869 missense 0.034 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2071000716 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241239606 C null D G 869 869 missense 0.355 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs772620966 2q37.3 2 241239607 T null D N 869 869 missense 0.438 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1179816556 2q37.3 2 241238783 A null A V 872 872 missense 0.644 possibly damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1437547989 2q37.3 2 241238781 A null Q * 873 873 stop gained 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs755839436 2q37.3 2 241238779 G null Q H 873 873 missense 0.641 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1248887796 2q37.3 2 241238780 A null Q L 873 873 missense 0.635 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1574869857 2q37.3 2 241238778 T null V M 874 874 missense 0.985 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1483395854 2q37.3 2 241238774 A null T I 875 875 missense 0.562 possibly damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1278964455 2q37.3 2 241238765 T null C Y 878 878 missense 0.031 benign 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2070865564 2q37.3 2 241238762 C null A G 879 879 missense 0.077 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1231529677 2q37.3 2 241238763 T null A T 879 879 missense 0.003 benign 0.14 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs750190856 2q37.3 2 241238760 C null I V 880 880 missense 0.066 benign 0.1 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs781161341 2q37.3 2 241238756 T null P H 881 881 missense 0.937 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs781161341 2q37.3 2 241238756 A null P L 881 881 missense 0.944 probably damaging 0.05 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs2070864413 2q37.3 2 241238757 A null P S 881 881 missense 0.739 possibly damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1238272873 2q37.3 2 241238753 C null Q R 882 882 missense 0.267 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2149385719 2q37.3 2 241238747 T null F Y 884 884 missense 0.003 benign 0.44 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein dbSNP,dbSNP,gnomAD rs1225518003 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 2q37.3 2 241238742 A null R * 886 886 missense 1 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1225518003 2q37.3 2 241238742 C null R G 886 886 missense 0.141 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2070861899 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241238741 A null R L 886 886 missense 0.872 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs528720838 2q37.3 2 241238736 G null V L 888 888 missense 0.001 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1397986112 2q37.3 2 241238733 A null M L 889 889 missense 0.011 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2070859935 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241238732 G null M T 889 889 missense 0.694 possibly damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs764070872 2q37.3 2 241238726 A null P L 891 891 missense 0.74 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs763163799 2q37.3 2 241238723 C null K R 892 892 missense 0.046 benign 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1321954244 2q37.3 2 241238720 A null G V 893 893 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC rs765545509 2q37.3 2 241238717 A null S F 894 894 missense 0.15 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs759778635 2q37.3 2 241238706 A null Q * 898 898 stop gained 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2070856373 2q37.3 2 241238703 C null I V 899 899 missense 0.446 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP rs376116113 2q37.3 2 241238699 A null T I 900 900 missense 0.52 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs771295977 2q37.3 2 241238696 T null R Q 901 901 missense 0.074 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs776943175 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241238697 A null R W 901 901 missense 0.903 possibly damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2149385477 2q37.3 2 241238694 T null D N 902 902 missense 0.182 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2070854030 2q37.3 2 241238690 C null F C 903 903 missense 0.205 benign 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2070853633 2q37.3 2 241238688 A null S C 904 904 missense 0.696 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1190109215 2q37.3 2 241238687 A null S I 904 904 missense 0.434 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1190109215 2q37.3 2 241238687 T null S N 904 904 missense 0.0 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2070852746 2q37.3 2 241238686 C null S R 904 904 missense 0.048 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs768019779 2q37.3 2 241238675 C null K R 908 908 missense 0.255 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC rs748874925 2q37.3 2 241238662 G null R S 912 912 missense 0.116 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs779449255 2q37.3 2 241238655 C null N D 915 915 missense 0.027 benign 0.18 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC rs745517400 2q37.3 2 241238652 T null A T 916 916 missense 0.001 benign 0.12 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,gnomAD rs372257425 2q37.3 2 241236765 C null H Q 918 918 missense 0.0 benign 0.43 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein dbSNP,dbSNP,gnomAD rs61757693 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241236766 C null H R 918 918 missense 0.0 benign 0.41 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2070525585 2q37.3 2 241236764 C null S G 919 919 missense 0.001 benign 0.48 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs776496339 2q37.3 2 241236763 G null S T 919 919 missense 0.024 benign 0.24 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs770822941 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241236758 G null E Q 921 921 missense 0.212 benign 0.11 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs746849248 2q37.3 2 241236757 A null E V 921 921 missense 0.03 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1333629097 2q37.3 2 241236746 C null Q E 925 925 missense 0.102 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs758317347 2q37.3 2 241236740 G null N H 927 927 missense 0.07 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2149366962 2q37.3 2 241236736 G null G A 928 928 missense 0.037 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,gnomAD rs369507432 2q37.3 2 241236731 T null E K 930 930 missense 0.015 benign 0.54 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1208064006 2q37.3 2 241236727 C null A G 931 931 missense 0.0 benign 0.52 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,gnomAD rs142659756 2q37.3 2 241236724 G null G A 932 932 missense 0.007 benign 0.17 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs750756203 2q37.3 2 241236716 C null R G 935 935 missense 0.0 benign 0.21 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs2070517310 2q37.3 2 241236715 T null R K 935 935 missense 0.0 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2070516910 2q37.3 2 241236713 T null E K 936 936 missense 0.039 benign 0.15 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs767776112 2q37.3 2 241236707 C null K E 938 938 missense 0.037 benign 0.45 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs767776112 2q37.3 2 241236707 G null K Q 938 938 missense 0.137 benign 0.2 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs951499300 2q37.3 2 241236701 C null C G 940 940 missense 0.0 benign 0.17 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs951499300 2q37.3 2 241236701 G null C R 940 940 missense 0.006 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2149366749 2q37.3 2 241236700 G null C S 940 940 missense 0.0 benign 0.31 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1027587329 2q37.3 2 241236696 T null D E 941 941 missense 0.001 benign 0.16 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs995731049 2q37.3 2 241236695 C null P A 942 942 missense 0.023 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs995731049 2q37.3 2 241236695 A null P S 942 942 missense 0.023 benign 0.19 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,gnomAD rs145223755 2q37.3 2 241236691 G null G A 943 943 missense 0.003 benign 0.94 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,gnomAD rs145223755 2q37.3 2 241236691 T null G D 943 943 missense 0.0 benign 0.68 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ExAC,TOPMed,dbSNP,dbSNP rs561809495 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241236692 T null G S 943 943 0.0002 missense 0.0 benign 0.8 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2305072 2q37.3 2 241236682 G null R T 946 946 missense 0.09 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1449381216 2q37.3 2 241236683 A null R W 946 946 missense 0.912 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs759158851 2q37.3 2 241236679 T null R K 947 947 missense 0.0 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs776400845 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241236676 T null C Y 948 948 missense 0.919 probably damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs746674954 2q37.3 2 241236665 A null I F 952 952 missense 0.015 benign 0.22 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,gnomAD rs143341723 2q37.3 2 241236663 C null I M 952 952 missense 0.102 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1559481630 2q37.3 2 241236662 A null I F 953 953 missense 0.949 probably damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC rs771778870 2q37.3 2 241236658 A null S F 954 954 missense 0.492 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs145714274 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241236652 T null R Q 956 956 missense 0.161 benign 0.14 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs778753184 2q37.3 2 241236653 A null R W 956 956 missense 0.988 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1282551852 2q37.3 2 241236647 T null E K 958 958 missense 0.98 probably damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1282551852 2q37.3 2 241236647 G null E Q 958 958 missense 0.969 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2070506453 2q37.3 2 241236644 A null K * 959 959 stop gained 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs749312258 2q37.3 2 241236637 G null E A 961 961 missense 0.301 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs896624019 2q37.3 2 241236638 G null E Q 961 961 missense 0.301 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ExAC,gnomAD rs572912678 2q37.3 2 241236635 A null A S 962 962 0.000784929 missense 0.383 benign 0.05 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ExAC,gnomAD rs572912678 2q37.3 2 241236635 T null A T 962 962 0.000784929 missense 0.166 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1301799884 2q37.3 2 241236634 A null A V 962 962 missense 0.383 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ExAC,TOPMed,gnomAD rs557925333 2q37.3 2 241236626 T null E K 965 965 0.000196232 missense 0.132 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ExAC,TOPMed,gnomAD rs557925333 2q37.3 2 241236626 G null E Q 965 965 0.000196232 missense 0.057 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1374456315 2q37.3 2 241236622 A null A V 966 966 missense 0.976 probably damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1378599271 2q37.3 2 241236620 T null L M 967 967 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2070503137 2q37.3 2 241236616 A null E V 968 968 missense 0.063 benign 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs758892886 2q37.3 2 241235594 G null A P 969 969 missense 0.621 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs758892886 2q37.3 2 241235594 A null A S 969 969 missense 0.207 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs758892886 2q37.3 2 241235594 T null A T 969 969 missense 0.604 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2070307529 2q37.3 2 241235593 A null A V 969 969 missense 0.257 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs779334390 2q37.3 2 241235589 G null L F 970 970 missense 0.436 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,dbSNP,dbSNP rs914923334 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241235584 A null P L 972 972 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1574851835 2q37.3 2 241235581 G null V A 973 973 missense 0.774 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1214379431 2q37.3 2 241235582 T null V I 973 973 missense 0.068 benign 0.47 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1360672220 2q37.3 2 241235575 G null I T 975 975 missense 0.021 benign 0.36 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs769672109 2q37.3 2 241235566 G null E A 978 978 missense 0.026 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs2070305266 2q37.3 2 241235565 G null E D 978 978 missense 0.005 benign 0.14 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs755527074 2q37.3 2 241235567 T null E K 978 978 missense 0.145 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs769672109 2q37.3 2 241235566 A null E V 978 978 missense 0.251 benign 0.05 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1394910353 2q37.3 2 241235561 C null P A 980 980 missense 0.279 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1271506625 2q37.3 2 241235560 A null P L 980 980 missense 0.491 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs751269194 2q37.3 2 241235554 C null D G 982 982 missense 0.88 possibly damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs763870731 2q37.3 2 241235552 A null L F 983 983 missense 0.316 benign 0.17 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs2070303885 2q37.3 2 241235548 C null H R 984 984 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1172814173 2q37.3 2 241235546 A null R C 985 985 missense 1.0 probably damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs762778846 2q37.3 2 241235545 T null R H 985 985 missense 0.998 probably damaging 0.07 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ExAC,gnomAD rs144083652 2q37.3 2 241235541 C null Y * 986 986 stop gained 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs775385733 2q37.3 2 241235542 C null Y C 986 986 missense 0.825 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs775385733 2q37.3 2 241235542 A null Y F 986 986 missense 0.007 benign 0.2 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,gnomAD rs34961814 2q37.3 2 241235540 T null V I 987 987 missense 0.0 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1254005009 2q37.3 2 241235537 C null I V 988 988 missense 0.922 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,dbSNP,dbSNP,gnomAD rs776511784 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241235524 T null G E 992 992 missense 0.996 probably damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2070301937 2q37.3 2 241235525 T null G R 992 992 missense 1.0 probably damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1227729795 2q37.3 2 241235519 T null G R 994 994 missense 0.579 possibly damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1405992847 2q37.3 2 241235518 A null G V 994 994 missense 0.966 probably damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs747224928 2q37.3 2 241235513 A null R C 996 996 missense 0.999 probably damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs2070300177 2q37.3 2 241235512 T null R H 996 996 missense 0.991 probably damaging 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs773639028 2q37.3 2 241235499 C null D E 1000 1000 missense 0.007 benign 0.62 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1324970880 2q37.3 2 241235496 A null E D 1001 1001 missense 0.007 benign 0.21 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1481604838 2q37.3 2 241235245 C null H R 1007 1007 missense 0.001 benign 0.16 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1430488034 2q37.3 2 241235246 A null H Y 1007 1007 missense 0.007 benign 0.41 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein dbSNP,dbSNP,gnomAD rs1333778436 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241235239 A null P L 1009 1009 missense 0.476 possibly damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1237972796 2q37.3 2 241235240 A null P S 1009 1009 missense 0.406 benign 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs757980527 2q37.3 2 241235237 T null A T 1010 1010 missense 0.044 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1251229389 2q37.3 2 241235233 A null P L 1011 1011 missense 0.551 possibly damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2070261661 2q37.3 2 241235234 A null P S 1011 1011 missense 0.09 benign 0.05 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2070260880 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241235231 G null E Q 1012 1012 missense 0.441 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,gnomAD rs375138734 2q37.3 2 241235224 A null Q L 1014 1014 missense 0.544 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs368614346 2q37.3 2 241235210 T null A T 1019 1019 missense 0.0 benign 0.34 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2070259012 2q37.3 2 241235207 C null I V 1020 1020 missense 0.2 benign 0.54 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs750456889 2q37.3 2 241235203 T null T K 1021 1021 missense 0.17 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs750456889 2q37.3 2 241235203 A null T M 1021 1021 missense 0.337 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,gnomAD rs148676564 2q37.3 2 241235195 T null A T 1024 1024 missense 0.035 benign 0.06 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1262269085 2q37.3 2 241235192 T null A T 1025 1025 missense 0.036 benign 0.24 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1317462458 2q37.3 2 241235189 C null N D 1026 1026 missense 0.169 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1317462458 2q37.3 2 241235189 A null N Y 1026 1026 missense 0.856 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1204500688 2q37.3 2 241235185 G null L S 1027 1027 missense 0.349 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1205316129 2q37.3 2 241235181 C null D E 1028 1028 missense 0.011 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1274853214 2q37.3 2 241235179 A null R L 1029 1029 missense 0.208 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1274853214 2q37.3 2 241235179 T null R Q 1029 1029 missense 0.105 benign 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1348222068 2q37.3 2 241235180 A null R W 1029 1029 missense 0.985 probably damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs866622430 2q37.3 2 241235177 T null A T 1030 1030 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs746379684 2q37.3 2 241235173 C null K R 1031 1031 missense 0.372 benign 0.16 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs747753675 2q37.3 2 241235162 T null L M 1035 1035 missense 0.571 possibly damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1574849338 2q37.3 2 241235161 C null L R 1035 1035 missense 0.299 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,dbSNP,dbSNP,gnomAD rs778670196 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241235156 A null R C 1037 1037 missense 0.176 benign 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,dbSNP,dbSNP rs1559478259 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241235155 T null R H 1037 1037 missense 0.494 possibly damaging 0.02 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs778670196 2q37.3 2 241235156 T null R S 1037 1037 missense 0.272 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1559478250 2q37.3 2 241235152 G null V A 1038 1038 missense 0.726 possibly damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1574849283 2q37.3 2 241235153 T null V M 1038 1038 missense 0.392 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2070251786 2q37.3 2 241235150 C null K E 1039 1039 missense 0.031 benign 0.13 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1386871698 2q37.3 2 241235140 C null Q R 1042 1042 missense 0.024 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs756054968 2q37.3 2 241235135 T null E K 1044 1044 missense 0.015 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs2070250188 2q37.3 2 241235131 A null Q L 1045 1045 missense 0.135 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs866561712 2q37.3 2 241235128 G null E A 1046 1046 missense 0.053 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs750442483 2q37.3 2 241235129 G null E Q 1046 1046 missense 0.422 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs767701270 2q37.3 2 241235124 T null D E 1047 1047 missense 0.61 possibly damaging 0.09 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2070249435 2q37.3 2 241235125 A null D V 1047 1047 missense 0.392 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1242223092 2q37.3 2 241235122 T null R Q 1048 1048 missense 0.009 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1476078840 2q37.3 2 241235123 A null R W 1048 1048 missense 0.848 possibly damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs866105821 2q37.3 2 241233963 A null A S 1049 1049 missense 0.021 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1354827359 2q37.3 2 241233962 A null A V 1049 1049 missense 0.005 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2070096305 2q37.3 2 241233960 C null L V 1050 1050 missense 0.957 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2070096098 2q37.3 2 241233956 T null R K 1051 1051 missense 0.55 possibly damaging 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs571243212 2q37.3 2 241233941 T null S N 1056 1056 missense 0.003 benign 0.05 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1574843200 2q37.3 2 241233932 G null V A 1059 1059 missense 0.834 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs765585751 2q37.3 2 241233929 C null D G 1060 1060 missense 0.349 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs765585751 2q37.3 2 241233929 A null D V 1060 1060 missense 0.055 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs777103021 2q37.3 2 241233927 C null P A 1061 1061 missense 0.909 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2070093847 2q37.3 2 241233924 C null K E 1062 1062 missense 0.014 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2070093597 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241233915 A null P S 1065 1065 missense 0.503 possibly damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1427404086 2q37.3 2 241233909 C null I V 1067 1067 missense 0.743 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs773848988 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241233903 T null G R 1069 1069 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs11555550 2q37.3 2 241233894 A null G W 1072 1072 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl,dbSNP rs2149342588 2q37.3 2 241233891 T null A T 1073 1073 missense 0.133 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1170391197 2q37.3 2 241233890 A null A V 1073 1073 missense 0.445 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1482090373 2q37.3 2 241233881 C null T S 1076 1076 missense 0.014 benign 0.74 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2070090509 2q37.3 2 241233876 C null I V 1078 1078 missense 0.353 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs748965030 2q37.3 2 241233872 T null R Q 1079 1079 missense 0.571 possibly damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein dbSNP,dbSNP,gnomAD rs1212191858 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241233873 A null R W 1079 1079 missense 0.988 probably damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1345245473 2q37.3 2 241233862 C null H Q 1082 1082 missense 0.699 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs745607429 2q37.3 2 241233840 T null D N 1090 1090 missense 0.093 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2230359 2q37.3 2 241233832 T null D E 1092 1092 0.123234 missense 0.015 benign 0.13 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1419798633 2q37.3 2 241233834 T null D N 1092 1092 missense 0.005 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2070085377 2q37.3 2 241233825 C null N D 1095 1095 missense 0.0 benign 0.47 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs758477087 2q37.3 2 241233823 C null N K 1095 1095 missense 0.006 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2149342274 2q37.3 2 241233824 C null N S 1095 1095 missense 0.0 benign 0.35 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1559471196 2q37.3 2 241230943 A null P L 1097 1097 missense 0.006 benign 0.3 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs750917763 2q37.3 2 241230944 A null P S 1097 1097 missense 0.0 benign 0.73 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs2069666580 2q37.3 2 241230936 C null D E 1099 1099 missense 0.023 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1416429182 2q37.3 2 241230934 C null Q R 1100 1100 missense 0.143 benign 0.39 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs140776659 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241230914 T null E K 1107 1107 missense 0.423 benign 0.04 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,gnomAD rs140776659 2q37.3 2 241230914 G null E Q 1107 1107 missense 0.423 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2069664510 2q37.3 2 241230907 C null N S 1109 1109 missense 0.037 benign 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2069664265 2q37.3 2 241230905 G null T P 1110 1110 missense 0.063 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2069664026 2q37.3 2 241230902 T null E K 1111 1111 missense 0.023 benign 0.38 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs770732430 2q37.3 2 241230898 C null A G 1112 1112 missense 0.045 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs770732430 2q37.3 2 241230898 A null A V 1112 1112 missense 0.204 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs760438598 2q37.3 2 241230893 C null R G 1114 1114 missense 0.2 benign 0.01 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1454369072 2q37.3 2 241230891 G null R S 1114 1114 missense 0.074 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,gnomAD rs372685027 2q37.3 2 241230887 T null A T 1116 1116 missense 0.051 benign 0.13 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2069662695 2q37.3 2 241230882 C null I M 1117 1117 missense 0.571 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1425884109 2q37.3 2 241230884 C null I V 1117 1117 missense 0.44 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs771960300 2q37.3 2 241230880 G null L P 1118 1118 missense 0.278 benign 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs748088464 2q37.3 2 241230877 T null R K 1119 1119 missense 0.0 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs778946858 2q37.3 2 241230875 A null I F 1120 1120 missense 0.683 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2149315345 2q37.3 2 241230865 C null E G 1123 1123 missense 0.035 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs768789088 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241230866 T null E K 1123 1123 missense 0.012 benign 0.12 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1287534661 2q37.3 2 241230863 T null L I 1124 1124 missense 0.194 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs2069660604 2q37.3 2 241230859 C null E G 1125 1125 missense 0.441 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1455825281 2q37.3 2 241230857 C null Q E 1126 1126 missense 0.0 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs2069659827 2q37.3 2 241230855 G null Q H 1126 1126 missense 0.014 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs780186842 2q37.3 2 241230840 T null D E 1131 1131 missense 0.034 benign 0.26 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs756379632 2q37.3 2 241230839 T null V I 1132 1132 missense 0.003 benign 0.83 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs368440496 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241230835 A null P L 1133 1133 missense 0.0 benign 0.29 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2069658516 2q37.3 2 241230836 A null P S 1133 1133 missense 0.0 benign 0.8 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ExAC,gnomAD rs569995599 2q37.3 2 241230830 G null D H 1135 1135 0.000196232 missense 0.782 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,dbSNP,dbSNP,gnomAD rs753509915 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241230821 T null V I 1138 1138 missense 0.055 benign 0.11 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2069656321 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241230815 T null A T 1140 1140 missense 0.353 benign 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs2069656066 2q37.3 2 241230812 A null R C 1141 1141 missense 0.994 probably damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs760410955 2q37.3 2 241230811 T null R H 1141 1141 missense 0.474 possibly damaging 0.09 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs772822054 2q37.3 2 241230809 C null I V 1142 1142 missense 0.226 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs767353594 2q37.3 2 241230799 A null A V 1145 1145 missense 0.062 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs774308878 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241230797 A null R C 1146 1146 missense 0.9 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs768699303 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241230796 T null R H 1146 1146 missense 0.67 possibly damaging 0.12 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2069654030 2q37.3 2 241230790 C null K R 1148 1148 missense 0.094 benign 0.27 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,TOPMed,gnomAD rs370946253 2q37.3 2 241230787 C null A G 1149 1149 missense 0.003 benign 0.48 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs769840070 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241230782 A null R C 1151 1151 missense 0.974 probably damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs746115994 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241230781 T null R H 1151 1151 missense 0.44 benign 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs781680747 2q37.3 2 241230775 G null I T 1153 1153 missense 0.88 possibly damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs2069652585 2q37.3 2 241230776 C null I V 1153 1153 missense 0.207 benign 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ExAC,TOPMed,gnomAD rs201478473 2q37.3 2 241230773 A null M L 1154 1154 0.000196232 missense 0.268 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs753251867 2q37.3 2 241230767 T null E K 1156 1156 missense 0.113 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,dbSNP,dbSNP,gnomAD rs765922546 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241230762 C null F L 1157 1157 missense 0.35 benign 0.01 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1157507249 2q37.3 2 241230763 G null F S 1157 1157 missense 0.233 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs2069650467 2q37.3 2 241230761 C null K E 1158 1158 missense 0.137 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs372823425 2q37.3 2 241230760 C null K R 1158 1158 missense 0.03 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs894032339 2q37.3 2 241230263 A null I F 1161 1161 missense 0.977 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,dbSNP,dbSNP,gnomAD rs752747372 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241230259 T null R H 1162 1162 missense 0.524 possibly damaging 0.04 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1185300977 2q37.3 2 241230255 C null F L 1163 1163 missense 0.137 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1293293553 2q37.3 2 241230248 C null S G 1166 1166 missense 0.015 benign 0.14 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs776876774 2q37.3 2 241230244 T null G E 1167 1167 missense 0.093 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs759712338 2q37.3 2 241230245 T null G R 1167 1167 missense 0.123 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs771240280 2q37.3 2 241230241 T null A D 1168 1168 missense 0.031 benign 0.3 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1058949 2q37.3 2 241230242 T null A T 1168 1168 missense 0.464 possibly damaging 0.2 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1343850448 2q37.3 2 241230234 C null D E 1170 1170 missense 0.018 benign 0.13 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs2069578261 2q37.3 2 241230226 T null C Y 1173 1173 missense 0.046 benign 0.4 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,gnomAD rs376382320 2q37.3 2 241230224 T null V I 1174 1174 missense 0.131 benign 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1283726369 2q37.3 2 241230221 G null T P 1175 1175 missense 0.212 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1283726369 2q37.3 2 241230221 A null T S 1175 1175 missense 0.212 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs748567689 2q37.3 2 241230217 C null V G 1176 1176 missense 0.417 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs779520491 2q37.3 2 241230214 A null T M 1177 1177 missense 0.09 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2069574814 2q37.3 2 241230208 T null L H 1179 1179 missense 0.035 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2069575107 2q37.3 2 241230209 C null L V 1179 1179 missense 0.022 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2069574199 2q37.3 2 241230191 T null E K 1185 1185 missense 0.051 benign 0.21 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1041170759 2q37.3 2 241230188 A null A S 1186 1186 missense 0.29 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1041170759 2q37.3 2 241230188 T null A T 1186 1186 missense 0.116 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs944103334 2q37.3 2 241230182 T null D N 1188 1188 missense 0.471 possibly damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1353921759 2q37.3 2 241230174 C null I M 1190 1190 missense 0.062 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,TOPMed,gnomAD rs373443431 2q37.3 2 241230173 A null L F 1191 1191 missense 0.326 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs756844405 2q37.3 2 241230170 G null N H 1192 1192 missense 0.92 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1332564266 2q37.3 2 241230169 A null N I 1192 1192 missense 0.29 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1439250824 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241230159 G null E D 1195 1195 missense 0.257 benign 0.02 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1283414299 2q37.3 2 241230161 G null E Q 1195 1195 missense 0.874 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein dbSNP,dbSNP rs369738368 [NCI-TCGA]: Variant assessed as Somatic; LOW impact. 2q37.3 2 241230153 A null Y = 1197 1197 - 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1350547252 2q37.3 2 241229958 T null A T 1199 1199 missense 0.01 benign 0.22 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1400306870 2q37.3 2 241229955 G null D H 1200 1200 missense 0.093 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ExAC,TOPMed,gnomAD rs766531306 2q37.3 2 241229952 T null V M 1201 1201 missense 0.063 benign 0.09 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1413651766 2q37.3 2 241229949 T null V M 1202 1202 missense 0.023 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1473727691 2q37.3 2 241229943 C null S G 1204 1204 missense 0.024 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1252620242 2q37.3 2 241229942 A null S I 1204 1204 missense 0.059 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1181463892 2q37.3 2 241229940 G null E Q 1205 1205 missense 0.011 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs527489432 2q37.3 2 241229937 G null A P 1206 1206 missense 0.005 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs527489432 2q37.3 2 241229937 A null A S 1206 1206 missense 0.015 benign 0.56 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs761944295 2q37.3 2 241229936 A null A V 1206 1206 missense 0.005 benign 0.29 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1283598250 2q37.3 2 241229925 G null Y H 1210 1210 missense 0.699 possibly damaging 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2069527957 2q37.3 2 241229924 G null Y S 1210 1210 missense 0.006 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1574822196 2q37.3 2 241229917 G null K N 1212 1212 missense 0.039 benign 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,gnomAD rs149149076 2q37.3 2 241229915 T null P H 1213 1213 missense 0.488 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,gnomAD rs149149076 2q37.3 2 241229915 A null P L 1213 1213 missense 0.001 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1229842354 2q37.3 2 241229916 A null P S 1213 1213 missense 0.003 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1287334000 2q37.3 2 241229913 C null P A 1214 1214 missense 0.0 benign 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2149306140 2q37.3 2 241229910 T null A T 1215 1215 missense 0.005 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1225978697 2q37.3 2 241229909 A null A V 1215 1215 missense 0.009 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1356840824 2q37.3 2 241229907 A null H Y 1216 1216 missense 0.018 benign 0.48 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs776017355 2q37.3 2 241229904 T null E K 1217 1217 missense 0.01 benign 0.09 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2069523672 2q37.3 2 241229901 T null E K 1218 1218 missense 0.013 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,gnomAD rs376066963 2q37.3 2 241229897 C null A G 1219 1219 missense 0.003 benign 0.34 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1559468685 2q37.3 2 241229898 T null A T 1219 1219 missense 0.027 benign 0.15 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1457573764 2q37.3 2 241229891 C null A G 1221 1221 missense 0.005 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1457573764 2q37.3 2 241229891 A null A V 1221 1221 missense 0.012 benign 0.14 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs747771920 2q37.3 2 241229867 A null R L 1229 1229 missense 0.006 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,TOPMed,gnomAD rs747771920 2q37.3 2 241229867 T null R Q 1229 1229 missense 0.011 benign 0.01 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,dbSNP,dbSNP,gnomAD rs771691256 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241229868 A null R W 1229 1229 missense 0.777 possibly damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2069517369 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241229862 T null A T 1231 1231 missense 0.023 benign 0.01 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs866303067 2q37.3 2 241229858 A null P L 1232 1232 missense 0.137 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2069515888 2q37.3 2 241229854 T null W * 1233 1233 stop gained 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs2069515521 2q37.3 2 241229852 A null T I 1234 1234 missense 0.01 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,gnomAD rs367686311 2q37.3 2 241229850 A null A S 1235 1235 missense 0.015 benign 0.04 deleterious - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,gnomAD rs367686311 2q37.3 2 241229850 T null A T 1235 1235 missense 0.0 benign 0.17 tolerated - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,gnomAD rs200093185 2q37.3 2 241229840 T null S N 1238 1238 0.000196232 missense 0.0 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2069513437 2q37.3 2 241229838 T null E K 1239 1239 missense 0.01 benign 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs2069513038 2q37.3 2 241229835 C null K E 1240 1240 missense 0.513 possibly damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2069474821 2q37.3 2 241229687 T null A T 1241 1241 missense 0.92 probably damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs2149303192 2q37.3 2 241229683 C null P R 1242 1242 missense 0.841 possibly damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ESP,ExAC,TOPMed,gnomAD rs139297681 2q37.3 2 241229678 C null M V 1244 1244 missense 0.013 benign 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs752977176 2q37.3 2 241229674 T null S N 1245 1245 missense 0.325 benign 0.17 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2069473499 2q37.3 2 241229664 A null E D 1248 1248 missense 0.27 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs1466057829 2q37.3 2 241229654 A null S C 1252 1252 missense 0.886 possibly damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs897653883 2q37.3 2 241229653 A null S I 1252 1252 missense 0.048 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs897653883 2q37.3 2 241229653 G null S T 1252 1252 missense 0.021 benign 0.26 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1347863588 2q37.3 2 241229650 C null F C 1253 1253 missense 0.99 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs755342837 2q37.3 2 241229651 C null F V 1253 1253 missense 0.843 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1482451170 2q37.3 2 241229645 T null A T 1255 1255 missense 0.007 benign 0.25 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs754247789 2q37.3 2 241229644 A null A V 1255 1255 missense 0.026 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed,gnomAD rs1174659237 2q37.3 2 241229642 C null Q E 1256 1256 missense 0.18 benign 0.85 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1202139855 2q37.3 2 241229640 G null Q H 1256 1256 missense 0.615 possibly damaging 0.16 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1574819885 2q37.3 2 241229638 C null V G 1257 1257 missense 0.003 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl rs1381627134 2q37.3 2 241229635 A null A V 1258 1258 missense 0.074 benign 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein TOPMed rs2069469804 2q37.3 2 241229629 C null K R 1260 1260 missense 0.271 benign 0.19 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein 1000Genomes,ExAC,gnomAD rs577589305 2q37.3 2 241229624 C null L V 1262 1262 0.000196232 missense 0.007 benign 0.59 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs2069468723 2q37.3 2 241229621 A null P S 1263 1263 missense 0.006 benign 0.24 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein Ensembl,dbSNP rs12281 2q37.3 2 241229617 A null W L 1264 1264 missense 0 A0A024R4E5 HDLBP High density lipoprotein binding protein gnomAD rs1290456784 2q37.3 2 241229608 C null K R 1267 1267 missense 0.013 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein dbSNP,dbSNP,gnomAD rs1229026680 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 2q37.3 2 241229606 A null R * 1268 1268 missense 1 A0A024R4E5 HDLBP High density lipoprotein binding protein ExAC,gnomAD rs762688647 2q37.3 2 241229605 T null R Q 1268 1268 missense 0.203 benign 0.07 tolerated - low confidence 1 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1789997535 7q11.23 7 75994567 A null Q * 2 2 stop gained 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1789997388 7q11.23 7 75994566 A null Q L 2 2 missense 0.212 benign 0.05 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1456174059 7q11.23 7 75994563 T null P H 3 3 missense 0.744 possibly damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1456174059 7q11.23 7 75994563 A null P L 3 3 missense 0.212 benign 0.02 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1456174059 7q11.23 7 75994563 C null P R 3 3 missense 0.175 benign 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782006094 7q11.23 7 75994564 A null P S 3 3 missense 0.009 benign 0.08 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782006094 7q11.23 7 75994564 T null P T 3 3 missense 0.122 benign 0.11 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782783790 7q11.23 7 75994560 A null P L 4 4 missense 0.122 benign 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781943398 7q11.23 7 75994558 C null P A 5 5 missense 0.003 benign 0.04 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367841388 7q11.23 7 75994557 T null P H 5 5 missense 0.731 possibly damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367841388 7q11.23 7 75994557 C null P R 5 5 missense 0.346 benign 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781943398 7q11.23 7 75994558 A null P S 5 5 missense 0.014 benign 0.54 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782030674 7q11.23 7 75994554 A null P L 6 6 missense 0.063 benign 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782030674 7q11.23 7 75994554 C null P R 6 6 missense 0.582 possibly damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1789994654 7q11.23 7 75994555 A null P S 6 6 missense 0.103 benign 0.16 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,gnomAD rs1402644247 7q11.23 7 75994551 T null G D 7 7 missense 0.048 benign 0.1 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554562779 7q11.23 7 75994548 A null P L 8 8 missense 0.444 benign 0.05 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs868981119 7q11.23 7 75994549 A null P S 8 8 missense 0.026 benign 1.0 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs868981119 7q11.23 7 75994549 T null P T 8 8 missense 0.369 benign 0.24 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs909290583 7q11.23 7 75994543 T null G S 10 10 missense 0.117 benign 0.66 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554562772 7q11.23 7 75994542 A null G V 10 10 missense 0.513 possibly damaging 0.21 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1789991328 7q11.23 7 75994540 T null D N 11 11 missense 0.073 benign 0.28 tolerated 1 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374489610 7q11.23 7 75994531 C null R G 14 14 0.00235479 missense 0.041 benign 0.04 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782567251 7q11.23 7 75994530 T null R Q 14 14 missense 0.034 benign 0.12 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374489610 7q11.23 7 75994531 A null R W 14 14 0.00235479 missense 0.971 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554562762 7q11.23 7 75994524 A null W L 16 16 missense 0.834 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1789990042 7q11.23 7 75994520 A null E D 17 17 missense 0.019 benign 0.14 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1259428794 7q11.23 7 75994518 C null D G 18 18 missense 0.041 benign 0.11 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs868916302 7q11.23 7 75994513 C null Q E 20 20 missense 0.034 benign 1.0 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs868916302 7q11.23 7 75994513 T null Q K 20 20 missense 0.117 benign 0.01 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs868936379 7q11.23 7 75994507 A null D Y 22 22 missense 0.974 probably damaging 0.01 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,TOPMed,gnomAD rs559466676 7q11.23 7 75994502 T null F L 23 23 missense 0.797 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554562749 7q11.23 7 75994501 C null Q E 24 24 missense 0.034 benign 0.01 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1212705862 7q11.23 7 75994498 C null N D 25 25 missense 0.019 benign 0.08 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782653316 7q11.23 7 75994493 C null I M 26 26 missense 0.555 possibly damaging 0.07 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1475168133 7q11.23 7 75994491 C null Q R 27 27 missense 0.739 possibly damaging 0.06 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554562118 7q11.23 7 75992555 G null E D 28 28 missense 0.017 benign 0.31 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1161823601 7q11.23 7 75992556 A null E V 28 28 missense 0.265 benign 0.01 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554562115 7q11.23 7 75992553 T null T N 29 29 missense 0.342 benign 0.11 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1390539107 7q11.23 7 75992554 G null T P 29 29 missense 0.892 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,TOPMed,gnomAD rs370222222 7q11.23 7 75992550 C null H R 30 30 missense 0.571 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs982855347 7q11.23 7 75992547 G null R P 31 31 missense 0.924 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs982855347 7q11.23 7 75992547 T null R Q 31 31 missense 0.468 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781814451 7q11.23 7 75992548 A null R W 31 31 missense 0.982 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782574941 7q11.23 7 75992539 A null R C 34 34 missense 0.939 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1026911558 7q11.23 7 75992538 T null R H 34 34 missense 0.919 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1026911558 7q11.23 7 75992538 A null R L 34 34 missense 0.034 benign 0.15 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs2116674335 7q11.23 7 75992529 G null L P 37 37 missense 0.984 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs2116674317 7q11.23 7 75992527 T null E K 38 38 missense 0.67 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1789886659 7q11.23 7 75992521 C null L V 40 40 missense 0.115 benign 0.59 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1789886553 7q11.23 7 75992517 T null T N 41 41 missense 0.073 benign 0.03 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1789886318 7q11.23 7 75992515 G null K Q 42 42 missense 0.117 benign 0.01 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1563445001 7q11.23 7 75992512 A null L F 43 43 missense 0.325 benign 0.01 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1789885994 7q11.23 7 75992511 G null L P 43 43 missense 0.965 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs4732519 7q11.23 7 75992509 A null Q * 44 44 stop gained 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs4732519 7q11.23 7 75992509 C null Q E 44 44 missense 0.755 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs4732519 7q11.23 7 75992509 T null Q K 44 44 missense 0.981 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1249562189 7q11.23 7 75992506 C null N D 45 45 missense 0.011 benign 0.79 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1585146719 7q11.23 7 75992503 C null N D 46 46 missense 0.056 benign 0.46 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1188055132 7q11.23 7 75992502 C null N S 46 46 missense 0.014 benign 1.0 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782111803 7q11.23 7 75992498 T null C * 47 47 stop gained 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1257740461 7q11.23 7 75992500 C null C G 47 47 missense 0.964 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1257740461 7q11.23 7 75992500 G null C R 47 47 missense 0.983 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1421676997 7q11.23 7 75992499 T null C Y 47 47 missense 0.966 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs376971210 7q11.23 7 75992492 T null S R 49 49 missense 0.25 benign 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1554562082 7q11.23 7 75992491 C null S A 50 50 missense 0.034 benign 0.22 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,TOPMed,gnomAD rs540771278 7q11.23 7 75992484 A null T M 52 52 0.000196232 missense 0.919 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs368355993 7q11.23 7 75992481 A null R L 53 53 missense 0.265 benign 0.01 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs368355993 7q11.23 7 75992481 T null R Q 53 53 missense 0.834 possibly damaging 0.01 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782405727 7q11.23 7 75992482 A null R W 53 53 missense 0.982 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1394483896 7q11.23 7 75992479 C null Q E 54 54 missense 0.799 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1312323786 7q11.23 7 75992478 C null Q R 54 54 missense 0.964 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1789881802 7q11.23 7 75992475 G null K T 55 55 missense 0.571 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1326759436 7q11.23 7 75992473 G null K Q 56 56 missense 0.926 probably damaging 0.01 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199834444 7q11.23 7 75992472 C null K R 56 56 0.000196232 missense 0.161 benign 0.19 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781983762 7q11.23 7 75992469 T null R Q 57 57 missense 0.242 benign 0.22 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1272305390 7q11.23 7 75992470 A null R W 57 57 missense 0.961 probably damaging 0.01 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782353976 7q11.23 7 75992458 T null L M 61 61 missense 0.571 possibly damaging 0.04 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782200874 7q11.23 7 75992454 C null A G 62 62 missense 0.041 benign 0.06 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1011359693 7q11.23 7 75992449 T null A T 64 64 missense 0.034 benign 0.63 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554562061 7q11.23 7 75992445 C null L R 65 65 missense 0.983 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554562060 7q11.23 7 75992443 C null K E 66 66 missense 0.113 benign 0.18 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1789880178 7q11.23 7 75992442 C null K R 66 66 missense 0.03 benign 0.13 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782361216 7q11.23 7 75992257 C null C W 68 68 missense 0.939 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1473625652 7q11.23 7 75992258 T null C Y 68 68 missense 0.034 benign 0.31 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,TOPMed,gnomAD rs149750507 7q11.23 7 75992253 T null P T 70 70 0.0102041 missense 0.034 benign 0.35 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs371384423 7q11.23 7 75992249 A null S F 71 71 missense 0.883 possibly damaging 0.02 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs371384423 7q11.23 7 75992249 T null S Y 71 71 missense 0.787 possibly damaging 0.02 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1789870670 7q11.23 7 75992247 A null L F 72 72 missense 0.892 possibly damaging 0.03 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1789870670 7q11.23 7 75992247 C null L V 72 72 missense 0.113 benign 0.28 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs368479303 7q11.23 7 75992243 A null P L 73 73 missense 0.001 benign 0.05 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1789870452 7q11.23 7 75992236 G null E D 75 75 missense 0.104 benign 0.1 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1789870359 7q11.23 7 75992234 C null A G 76 76 missense 0.073 benign 0.03 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1789869894 7q11.23 7 75992230 A null E D 77 77 missense 0.073 benign 0.56 tolerated 1 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782449232 7q11.23 7 75992231 C null E G 77 77 missense 0.302 benign 0.33 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs374738520 7q11.23 7 75992232 T null E K 77 77 missense 0.014 benign 0.82 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554561979 7q11.23 7 75992229 G null G R 78 78 missense 0.117 benign 0.19 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1347949322 7q11.23 7 75992225 A null A V 79 79 missense 0.073 benign 0.24 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,dbSNP,dbSNP,gnomAD rs782820867 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.23 7 75992223 T null A T 80 80 missense 0.117 benign 0.01 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554561970 7q11.23 7 75992222 A null A V 80 80 missense 0.014 benign 0.41 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl,dbSNP rs17852664 pubmed:15489334 7q11.23 7 75992204 C null Q R 86 86 missense 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782150303 7q11.23 7 75992201 T null M K 87 87 missense 0.073 benign 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782150303 7q11.23 7 75992201 C null M R 87 87 missense 0.353 benign 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782150303 7q11.23 7 75992201 G null M T 87 87 missense 0.034 benign 0.01 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs782753035 7q11.23 7 75992195 C null E G 89 89 missense 0.555 possibly damaging 0.02 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs201059329 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.23 7 75992193 A null R C 90 90 missense 0.974 probably damaging 0.0 deleterious 1 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782756092 7q11.23 7 75992192 T null R H 90 90 missense 0.974 probably damaging 0.01 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782756092 7q11.23 7 75992192 G null R P 90 90 missense 0.949 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554561953 7q11.23 7 75992186 G null G A 92 92 missense 0.034 benign 0.03 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554561953 7q11.23 7 75992186 T null G D 92 92 missense 0.019 benign 0.1 tolerated 1 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1789867832 7q11.23 7 75992184 C null L V 93 93 missense 0.034 benign 1.0 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781949687 7q11.23 7 75992172 C null M V 97 97 missense 0.325 benign 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554561949 7q11.23 7 75992168 C null E G 98 98 missense 0.503 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782309975 7q11.23 7 75992165 C null A G 99 99 missense 0.113 benign 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs2116672568 7q11.23 7 75992166 A null A S 99 99 missense 0.177 benign 0.03 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1789866922 7q11.23 7 75992153 C null K R 103 103 missense 0.113 benign 0.01 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1275990997 7q11.23 7 75992149 A null K N 104 104 missense 0.117 benign 0.06 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs868972984 7q11.23 7 75989221 A null L F 107 107 missense 0.176 benign 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1445987420 7q11.23 7 75989222 G null L S 107 107 missense 0.35 benign 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554561311 7q11.23 7 75989220 G null Y H 108 108 missense 0.883 possibly damaging 0.01 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,TOPMed,gnomAD rs781982538 7q11.23 7 75989211 C null L V 111 111 missense 0.284 benign 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554561307 7q11.23 7 75989202 A null G W 114 114 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1789736729 7q11.23 7 75989195 C null V G 116 116 missense 0.771 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,TOPMed,gnomAD rs531304901 7q11.23 7 75989196 T null V I 116 116 missense 0.281 benign 0.04 deleterious 1 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1789736593 7q11.23 7 75989193 C null N D 117 117 missense 0.274 benign 0.01 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,gnomAD rs371074253 7q11.23 7 75989192 C null N S 117 117 missense 0.188 benign 0.02 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1260448124 7q11.23 7 75989189 C null V G 118 118 missense 0.029 benign 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782307627 7q11.23 7 75989190 T null V I 118 118 missense 0.39 benign 0.04 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782307627 7q11.23 7 75989190 G null V L 118 118 missense 0.281 benign 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,TOPMed,gnomAD rs567816984 7q11.23 7 75989186 A null T M 119 119 0.000196232 missense 0.961 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,TOPMed,gnomAD rs567816984 7q11.23 7 75989186 C null T R 119 119 0.000196232 missense 0.242 benign 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1789735265 7q11.23 7 75989184 A null L F 120 120 missense 0.19 benign 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1256870328 7q11.23 7 75989175 C null K E 123 123 missense 0.091 benign 0.02 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1256870328 7q11.23 7 75989175 G null K Q 123 123 missense 0.506 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs2116662645 7q11.23 7 75989170 A null Q H 124 124 missense 0.038 benign 0.02 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554561291 7q11.23 7 75989171 G null Q P 124 124 missense 0.012 benign 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs868912455 7q11.23 7 75989168 T null A D 125 125 missense 0.014 benign 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs916296075 7q11.23 7 75989165 C null K R 126 126 missense 0.253 benign 0.02 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs916296075 7q11.23 7 75989165 G null K T 126 126 missense 0.98 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1789653310 7q11.23 7 75988512 T null A T 128 128 missense 0.35 benign 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1554560801 7q11.23 7 75988508 C null Y C 129 129 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560798 7q11.23 7 75988506 C null K E 130 130 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140919124 7q11.23 7 75988501 C null D E 131 131 missense 0.245 benign 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782766666 7q11.23 7 75988500 A null E * 132 132 missense 1 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1585141203 7q11.23 7 75988498 G null E D 132 132 missense 0.645 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782766666 7q11.23 7 75988500 T null E K 132 132 missense 0.992 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782107848 7q11.23 7 75988493 G null E A 134 134 missense 0.993 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781959690 7q11.23 7 75988490 C null K R 135 135 missense 0.405 benign 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560793 7q11.23 7 75988485 C null K E 137 137 missense 0.952 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1789651066 7q11.23 7 75988484 C null K R 137 137 missense 0.952 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782717399 7q11.23 7 75988482 A null L F 138 138 missense 0.503 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782717399 7q11.23 7 75988482 C null L V 138 138 missense 0.738 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1789650157 7q11.23 7 75988479 G null Y H 139 139 missense 0.919 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1016885882 7q11.23 7 75988478 G null Y S 139 139 missense 0.117 benign 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560781 7q11.23 7 75988476 T null L I 140 140 missense 0.245 benign 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560781 7q11.23 7 75988476 C null L V 140 140 missense 0.079 benign 0.02 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1396371148 7q11.23 7 75988470 C null I V 142 142 missense 0.053 benign 0.33 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1789648530 7q11.23 7 75988467 C null I V 143 143 missense 0.654 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1789647948 7q11.23 7 75988455 G null I L 147 147 missense 0.007 benign 0.39 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1364081163 7q11.23 7 75988451 C null S C 148 148 missense 0.961 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372405984 7q11.23 7 75988448 C null F C 149 149 0.000392465 missense 0.165 benign 0.06 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782560822 7q11.23 7 75988443 T null C S 151 151 missense 0.245 benign 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs782555331 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.23 7 75988440 A null R C 152 152 missense 0.067 benign 0.03 deleterious 1 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782279908 7q11.23 7 75988439 T null R H 152 152 missense 0.885 possibly damaging 0.01 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782501281 7q11.23 7 75988424 A null S F 157 157 missense 0.034 benign 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781942050 7q11.23 7 75988340 T null V M 159 159 missense 0.949 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560712 7q11.23 7 75988336 A null T I 160 160 missense 0.117 benign 0.1 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782310318 7q11.23 7 75988321 C null N S 165 165 missense 0.117 benign 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs2116654368 7q11.23 7 75988319 T null F I 166 166 missense 0.738 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782372847 7q11.23 7 75988303 C null Y C 171 171 missense 0.99 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,dbSNP,dbSNP,gnomAD rs782229519 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.23 7 75988297 T null C Y 173 173 missense 0.67 possibly damaging 0.0 deleterious 1 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1189157008 7q11.23 7 75988294 A null T I 174 174 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782464296 7q11.23 7 75988291 G null L P 175 175 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1554560704 7q11.23 7 75988289 C null T A 176 176 missense 0.683 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1789635063 7q11.23 7 75988288 A null T I 176 176 missense 0.975 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1789634675 7q11.23 7 75988285 G null I T 177 177 missense 0.971 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs200635965 7q11.23 7 75988282 A null R L 178 178 missense 0.873 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs200635965 7q11.23 7 75988282 T null R Q 178 178 missense 0.962 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372926266 7q11.23 7 75988283 A null R W 178 178 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs369106841 7q11.23 7 75988277 C null S G 180 180 missense 0.474 possibly damaging 0.01 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560696 7q11.23 7 75988276 G null S T 180 180 missense 0.959 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1350140598 7q11.23 7 75988273 G null I T 181 181 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782713297 7q11.23 7 75988271 A null L F 182 182 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782051407 7q11.23 7 75988270 G null L P 182 182 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1789631649 7q11.23 7 75988268 G null I L 183 183 missense 0.177 benign 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782810677 7q11.23 7 75988267 G null I T 183 183 missense 0.782 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1554560687 7q11.23 7 75988265 C null N D 184 184 missense 0.594 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782136567 7q11.23 7 75988264 C null N S 184 184 missense 0.056 benign 1.0 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782345420 7q11.23 7 75988259 G null G R 186 186 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs782345420 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.23 7 75988259 T null G S 186 186 missense 1.0 probably damaging 0.0 deleterious 1 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782409607 7q11.23 7 75988252 T null R Q 188 188 missense 0.992 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,TOPMed,gnomAD rs556085933 7q11.23 7 75988253 A null R W 188 188 0.000196232 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs373139417 7q11.23 7 75988248 T null W * 189 189 stop gained 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,gnomAD rs534499056 7q11.23 7 75988249 T null W * 189 189 0.000196232 stop gained 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782635915 7q11.23 7 75988250 C null W G 189 189 missense 0.124 benign 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782635915 7q11.23 7 75988250 G null W R 189 189 missense 0.258 benign 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,gnomAD rs534499056 7q11.23 7 75988249 G null W S 189 189 0.000196232 missense 0.124 benign 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782460399 7q11.23 7 75988246 T null A E 190 190 missense 0.183 benign 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782460399 7q11.23 7 75988246 C null A G 190 190 missense 0.392 benign 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,gnomAD rs1554560674 7q11.23 7 75988247 T null A T 190 190 missense 0.472 possibly damaging 0.01 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782460399 7q11.23 7 75988246 A null A V 190 190 missense 0.321 benign 0.03 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1250391092 7q11.23 7 75988244 T null G R 191 191 missense 0.977 probably damaging 0.02 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1028117665 7q11.23 7 75988240 T null R Q 192 192 missense 0.249 benign 0.17 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs374980586 7q11.23 7 75988241 A null R W 192 192 missense 0.0 benign 0.08 tolerated - low confidence 1 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs368177681 7q11.23 7 75988238 T null A T 193 193 missense 0.138 benign 0.64 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1789628662 7q11.23 7 75988237 A null A V 193 193 missense 0.138 benign 0.18 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560663 7q11.23 7 75988234 T null L Q 194 194 missense 0.881 possibly damaging 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1789627847 7q11.23 7 75988227 G null E D 196 196 missense 0.514 possibly damaging 0.53 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1554560659 7q11.23 7 75988228 C null E G 196 196 missense 0.514 possibly damaging 0.38 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1554560659 7q11.23 7 75988228 A null E V 196 196 missense 0.617 possibly damaging 0.26 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782743996 7q11.23 7 75988225 T null G E 197 197 missense 0.608 possibly damaging 0.25 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs781874900 7q11.23 7 75988226 T null G R 197 197 missense 0.781 possibly damaging 0.5 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782080464 7q11.23 7 75988222 T null S N 198 198 missense 0.0 benign 0.34 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,TOPMed,gnomAD rs551699229 7q11.23 7 75988218 T null M I 199 199 0.000196232 missense 0.21 benign 0.93 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1563440220 7q11.23 7 75988219 G null M T 199 199 missense 0.21 benign 0.68 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1789627310 7q11.23 7 75988220 C null M V 199 199 missense 0.095 benign 0.83 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1789626804 7q11.23 7 75988215 A null E D 200 200 missense 0.228 benign 0.57 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1789626919 7q11.23 7 75988216 C null E G 200 200 missense 0.325 benign 0.39 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,TOPMed,gnomAD rs370443613 7q11.23 7 75988212 T null W * 201 201 0.000392465 stop gained 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl,dbSNP rs17855697 pubmed:15489334 7q11.23 7 75988111 C null T A 201 201 missense 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142196931 7q11.23 7 75988214 G null W R 201 201 missense 0.711 possibly damaging 0.03 deleterious 1 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782006582 7q11.23 7 75988211 T null G S 202 202 missense 0.934 probably damaging 0.53 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782234411 7q11.23 7 75988208 T null A T 203 203 missense 0.0 benign 0.24 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781974824 7q11.23 7 75988207 A null A V 203 203 missense 0.0 benign 0.19 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC rs782205966 7q11.23 7 75988202 C null T A 205 205 missense 0.398 benign 0.69 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1314409830 7q11.23 7 75988199 A null L F 206 206 missense 0.773 possibly damaging 0.26 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782575102 7q11.23 7 75988198 C null L R 206 206 missense 0.887 possibly damaging 0.12 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372363121 7q11.23 7 75988195 G null R P 207 207 0.000196232 missense 0.516 possibly damaging 0.25 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372363121 7q11.23 7 75988195 T null R Q 207 207 0.000196232 missense 0.412 benign 0.41 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1044127445 7q11.23 7 75988196 A null R W 207 207 missense 0.833 possibly damaging 0.21 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1789624372 7q11.23 7 75988187 G null G R 210 210 missense 0.98 probably damaging 0.55 tolerated - low confidence 1 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560626 7q11.23 7 75988183 A null T I 211 211 missense 0.711 possibly damaging 0.29 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs782604571 7q11.23 7 75988181 T null G S 212 212 missense 0.934 probably damaging 0.06 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1789623411 7q11.23 7 75988177 C null A G 213 213 missense 0.0 benign 0.46 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs371798181 7q11.23 7 75988178 T null A T 213 213 missense 0.0 benign 0.25 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560610 7q11.23 7 75988174 G null G A 214 214 missense 0.902 possibly damaging 0.77 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781896643 7q11.23 7 75988171 T null G D 215 215 missense 0.97 probably damaging 0.02 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,TOPMed,gnomAD rs185977178 7q11.23 7 75988172 T null G S 215 215 0.000196232 missense 0.934 probably damaging 0.76 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781896643 7q11.23 7 75988171 A null G V 215 215 missense 0.98 probably damaging 0.05 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1554560602 7q11.23 7 75988167 C null D E 216 216 missense 0.631 possibly damaging 0.37 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1789622189 7q11.23 7 75988166 T null G S 217 217 missense 0.934 probably damaging 0.6 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1563440073 7q11.23 7 75988162 T null G D 218 218 missense 0.97 probably damaging 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560600 7q11.23 7 75988163 T null G S 218 218 missense 0.934 probably damaging 0.71 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368049231 7q11.23 7 75988160 C null S A 219 219 0.000196232 missense 0.205 benign 0.43 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782122031 7q11.23 7 75988159 A null S F 219 219 missense 0.692 possibly damaging 0.3 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560592 7q11.23 7 75988154 A null L F 221 221 missense 0.773 possibly damaging 0.18 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560590 7q11.23 7 75988151 A null Q * 222 222 stop gained 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1209911483 7q11.23 7 75988150 G null Q P 222 222 missense 0.302 benign 0.75 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1209911483 7q11.23 7 75988150 C null Q R 222 222 missense 0.151 benign 0.89 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560580 7q11.23 7 75988146 T null D E 223 223 missense 0.631 possibly damaging 1.0 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,dbSNP,gnomAD rs782743658 [NCI-TCGA]: Variant assessed as Somatic; LOW impact. 7q11.23 7 75988148 T null D N 223 223 missense 0.737 possibly damaging 0.22 tolerated - low confidence 1 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560577 7q11.23 7 75988145 A null Q * 224 224 stop gained 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560577 7q11.23 7 75988145 C null Q E 224 224 missense 0.095 benign 0.36 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1789620242 7q11.23 7 75988139 T null L M 226 226 missense 0.826 possibly damaging 0.11 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1585140421 7q11.23 7 75988135 C null V G 227 227 missense 0.514 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1184812309 7q11.23 7 75988136 G null V L 227 227 missense 0.205 benign 0.27 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1184812309 7q11.23 7 75988136 T null V M 227 227 missense 0.788 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1389635118 7q11.23 7 75988132 G null G A 228 228 missense 0.902 possibly damaging 0.49 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1389635118 7q11.23 7 75988132 T null G D 228 228 missense 0.97 probably damaging 0.11 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560558 7q11.23 7 75988129 G null V A 229 229 missense 0.302 benign 0.56 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560560 7q11.23 7 75988130 T null V I 229 229 missense 0.205 benign 0.25 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1789618725 7q11.23 7 75988126 A null P L 230 230 missense 0.856 possibly damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782085273 7q11.23 7 75988127 A null P S 230 230 missense 0.81 possibly damaging 0.59 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1789618346 7q11.23 7 75988124 G null S P 231 231 missense 0.514 possibly damaging 0.23 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373610271 7q11.23 7 75988118 A null R C 233 233 missense 0.833 possibly damaging 0.11 tolerated 1 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs199749808 7q11.23 7 75988117 T null R H 233 233 missense 0.711 possibly damaging 0.28 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs17855697 7q11.23 7 75988111 G null H P 235 235 missense 0.412 benign 0.08 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs201406245 7q11.23 7 75988112 A null H Y 235 235 missense 0.3 benign 0.41 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782018052 7q11.23 7 75988109 A null L F 236 236 missense 0.773 possibly damaging 0.14 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560546 7q11.23 7 75988108 G null L P 236 236 missense 0.887 possibly damaging 0.09 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1413678225 7q11.23 7 75988105 A null P L 237 237 missense 0.856 possibly damaging 0.01 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs376297554 7q11.23 7 75988100 T null G R 239 239 missense 0.0 benign 0.08 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1789616431 7q11.23 7 75988093 G null H P 241 241 missense 0.412 benign 0.08 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782318093 7q11.23 7 75988091 T null A T 242 242 missense 0.691 possibly damaging 0.16 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560542 7q11.23 7 75988088 T null D N 243 243 missense 0.737 possibly damaging 0.01 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374331144 7q11.23 7 75988085 A null V L 244 244 0.000196232 missense 0.205 benign 1.0 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374331144 7q11.23 7 75988085 T null V M 244 244 0.000196232 missense 0.788 possibly damaging 0.74 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs2116651752 7q11.23 7 75987984 G null A P 245 245 missense 0.826 possibly damaging 0.07 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs376995698 7q11.23 7 75987981 A null R * 246 246 stop gained 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs376995698 7q11.23 7 75987981 C null R G 246 246 missense 0.3 benign 0.17 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781876346 7q11.23 7 75987980 G null R P 246 246 missense 0.516 possibly damaging 0.01 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781876346 7q11.23 7 75987980 T null R Q 246 246 missense 0.412 benign 0.19 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782491183 7q11.23 7 75987978 C null R G 247 247 missense 0.0 benign 0.2 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs372514117 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.23 7 75987977 T null R Q 247 247 missense 0.0 benign 0.25 tolerated - low confidence 1 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782491183 7q11.23 7 75987978 A null R W 247 247 missense 0.0 benign 0.22 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782704684 7q11.23 7 75987975 G null S P 248 248 missense 0.514 possibly damaging 0.32 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782158646 7q11.23 7 75987971 C null H R 249 249 missense 0.412 benign 0.27 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC rs781967880 7q11.23 7 75987968 G null V A 250 250 missense 0.302 benign 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782111928 7q11.23 7 75987969 T null V I 250 250 missense 0.205 benign 0.44 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782111928 7q11.23 7 75987969 A null V L 250 250 missense 0.205 benign 0.61 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1789607100 7q11.23 7 75987966 A null P S 251 251 missense 0.81 possibly damaging 0.21 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560418 7q11.23 7 75987963 T null E K 252 252 missense 0.497 possibly damaging 0.06 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,dbSNP,dbSNP,gnomAD rs888199370 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.23 7 75987956 A null P L 254 254 missense 0.856 possibly damaging 0.15 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs888199370 7q11.23 7 75987956 T null P Q 254 254 missense 0.908 possibly damaging 0.45 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs888199370 7q11.23 7 75987956 C null P R 254 254 missense 0.908 possibly damaging 0.03 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1789606494 7q11.23 7 75987950 A null P L 256 256 missense 0.856 possibly damaging 0.04 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1162088558 7q11.23 7 75987948 G null I L 257 257 missense 0.071 benign 0.47 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs2116651520 7q11.23 7 75987944 C null P R 258 258 missense 0.908 possibly damaging 0.06 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1048049957 7q11.23 7 75987942 A null L F 259 259 missense 0.773 possibly damaging 0.72 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1048049957 7q11.23 7 75987942 C null L V 259 259 missense 0.578 possibly damaging 0.66 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560405 7q11.23 7 75987933 A null H Y 262 262 missense 0.3 benign 0.52 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs782693536 7q11.23 7 75987930 T null V I 263 263 missense 0.205 benign 0.24 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560399 7q11.23 7 75987923 C null E G 265 265 missense 0.617 possibly damaging 0.01 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,TOPMed,gnomAD rs555840167 7q11.23 7 75987806 A null R C 267 267 missense 0.833 possibly damaging 0.21 tolerated 1 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs782572304 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.23 7 75987805 T null R H 267 267 missense 0.711 possibly damaging 0.23 tolerated 1 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1789594146 7q11.23 7 75987802 A null A V 268 268 missense 0.691 possibly damaging 0.03 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1554560334 7q11.23 7 75987800 T null V I 269 269 missense 0.205 benign 0.18 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1554560334 7q11.23 7 75987800 G null V L 269 269 missense 0.205 benign 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560330 7q11.23 7 75987796 A null S F 270 270 missense 0.692 possibly damaging 0.25 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,TOPMed,gnomAD rs374150422 7q11.23 7 75987794 C null P A 271 271 missense 0.737 possibly damaging 1.0 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs781909858 7q11.23 7 75987784 G null L P 274 274 missense 0.887 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1230728714 7q11.23 7 75987782 A null P S 275 275 missense 0.81 possibly damaging 0.25 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1789592750 7q11.23 7 75987778 G null E A 276 276 missense 0.497 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs543501547 7q11.23 7 75987775 T null R Q 277 277 missense 0.412 benign 0.38 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782801337 7q11.23 7 75987776 A null R W 277 277 missense 0.833 possibly damaging 0.12 tolerated - low confidence 1 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560306 7q11.23 7 75987770 A null P S 279 279 missense 0.81 possibly damaging 0.32 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC rs781853213 7q11.23 7 75987766 G null L P 280 280 missense 0.887 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782082182 7q11.23 7 75987763 A null P L 281 281 missense 0.856 possibly damaging 0.01 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,TOPMed,gnomAD rs782763009 7q11.23 7 75987764 A null P S 281 281 missense 0.81 possibly damaging 0.01 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1789591151 7q11.23 7 75987761 C null P A 282 282 missense 0.737 possibly damaging 1.0 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1789591151 7q11.23 7 75987761 A null P S 282 282 missense 0.81 possibly damaging 0.43 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs781943871 7q11.23 7 75987757 A null A V 283 283 missense 0.691 possibly damaging 0.01 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1193775361 7q11.23 7 75987755 T null G S 284 284 missense 0.934 probably damaging 0.81 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs376483231 7q11.23 7 75987751 T null A D 285 285 missense 0.826 possibly damaging 0.44 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781997749 7q11.23 7 75987752 T null A T 285 285 missense 0.691 possibly damaging 0.23 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs376483231 7q11.23 7 75987751 A null A V 285 285 missense 0.691 possibly damaging 0.01 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782220788 7q11.23 7 75987746 A null R * 287 287 stop gained 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782587381 7q11.23 7 75987745 T null R Q 287 287 missense 0.412 benign 0.02 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1789588790 7q11.23 7 75987743 T null A T 288 288 missense 0.691 possibly damaging 0.32 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374985692 7q11.23 7 75987742 A null A V 288 288 0.000196232 missense 0.691 possibly damaging 1.0 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782543570 7q11.23 7 75987739 T null A E 289 289 missense 0.773 possibly damaging 1.0 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1454682552 7q11.23 7 75987737 T null H N 290 290 missense 0.223 benign 0.23 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1454682552 7q11.23 7 75987737 A null H Y 290 290 missense 0.3 benign 0.03 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,TOPMed,gnomAD rs566879698 7q11.23 7 75987734 A null H Y 291 291 missense 0.3 benign 0.03 deleterious 1 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560282 7q11.23 7 75987730 T null G E 292 292 missense 0.97 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1161992953 7q11.23 7 75987727 C null P R 293 293 missense 0.908 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1789587590 7q11.23 7 75987723 T null H Q 294 294 missense 0.412 benign 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782633931 7q11.23 7 75987725 A null H Y 294 294 missense 0.3 benign 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1789587468 7q11.23 7 75987722 C null C G 295 295 missense 0.412 benign 0.67 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782480607 7q11.23 7 75987719 T null G R 296 296 missense 0.98 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1251507828 7q11.23 7 75987601 T null G R 297 297 missense 0.98 probably damaging 0.29 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1789579212 7q11.23 7 75987598 A null L F 298 298 missense 0.773 possibly damaging 0.41 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1554560198 7q11.23 7 75987595 A null P S 299 299 missense 0.81 possibly damaging 0.17 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782117913 7q11.23 7 75987591 C null V G 300 300 missense 0.514 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs377729252 7q11.23 7 75987592 T null V I 300 300 missense 0.205 benign 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,dbSNP,dbSNP rs781935263 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.23 7 75987586 G null D H 302 302 missense 0.937 probably damaging 0.0 deleterious 1 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs781935263 7q11.23 7 75987586 T null D N 302 302 missense 0.737 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs62475303 7q11.23 7 75987583 T null V M 303 303 missense 0.788 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781973486 7q11.23 7 75987579 A null A V 304 304 missense 0.691 possibly damaging 0.03 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1789577884 7q11.23 7 75987576 T null G E 305 305 missense 0.97 probably damaging 0.1 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs373027190 7q11.23 7 75987577 T null G R 305 305 missense 0.98 probably damaging 0.24 tolerated 1 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1554560180 7q11.23 7 75987574 C null P A 306 306 missense 0.737 possibly damaging 0.31 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1422107927 7q11.23 7 75987571 T null H N 307 307 missense 0.223 benign 0.27 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1585139172 7q11.23 7 75987570 G null H P 307 307 missense 0.412 benign 0.01 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1164198145 7q11.23 7 75987569 C null H Q 307 307 missense 0.412 benign 0.01 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1585139172 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.23 7 75987570 C null H R 307 307 missense 0.412 benign 0.01 deleterious 1 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1422107927 7q11.23 7 75987571 A null H Y 307 307 missense 0.3 benign 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782398579 7q11.23 7 75987568 A null L F 308 308 missense 0.773 possibly damaging 0.23 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1554560173 7q11.23 7 75987567 T null L H 308 308 missense 0.941 probably damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1554560173 7q11.23 7 75987567 G null L P 308 308 missense 0.887 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1789576794 7q11.23 7 75987564 A null P L 309 309 missense 0.856 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782252864 7q11.23 7 75987565 A null P S 309 309 missense 0.81 possibly damaging 0.32 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782618758 7q11.23 7 75987562 G null A P 310 310 missense 0.826 possibly damaging 0.36 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1369706656 7q11.23 7 75987558 A null A V 311 311 missense 0.691 possibly damaging 0.01 deleterious 1 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560168 7q11.23 7 75987556 G null F L 312 312 missense 0.302 benign 0.3 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782489821 7q11.23 7 75987554 C null F L 312 312 missense 0.302 benign 0.3 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1304485482 7q11.23 7 75987552 A null S F 313 313 missense 0.692 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1376951671 7q11.23 7 75987550 G null F L 314 314 missense 0.302 benign 0.77 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1563438991 7q11.23 7 75987547 A null L F 315 315 missense 0.773 possibly damaging 0.42 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1227200385 7q11.23 7 75987543 T null W * 316 316 missense 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1227200385 7q11.23 7 75987543 G null W S 316 316 missense 0.617 possibly damaging 0.01 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1004365572 7q11.23 7 75987538 A null L F 318 318 missense 0.773 possibly damaging 1.0 tolerated 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1789565348 7q11.23 7 75987428 G null L P 318 318 missense 0.887 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs868984702 7q11.23 7 75987422 T null A E 320 320 missense 0.773 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs868984702 7q11.23 7 75987422 C null A G 320 320 missense 0.578 possibly damaging 0.0 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560087 7q11.23 7 75987415 C null F L 322 322 missense 0.302 benign 1.0 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1943931469 11q13.1 11 64879624 C null Q E 3 3 missense 0.006 benign 1.0 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ESP,ExAC,TOPMed,gnomAD rs371917521 11q13.1 11 64878484 C null A G 8 8 missense 0.0 benign 0.06 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs942189964 11q13.1 11 64878478 T null P H 10 10 missense 0.003 benign 0.02 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs942189964 11q13.1 11 64878478 C null P R 10 10 missense 0.058 benign 0.09 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1163371888 11q13.1 11 64878472 T null S Y 12 12 missense 0.141 benign 1.0 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1403765042 11q13.1 11 64878470 G null G R 13 13 missense 0.0 benign 0.64 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1403765042 11q13.1 11 64878470 T null G S 13 13 missense 0.0 benign 0.84 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs2136507400 11q13.1 11 64878464 C null M V 15 15 missense 0.031 benign 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1178528796 11q13.1 11 64878456 C null S R 17 17 missense 0.048 benign 0.11 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1943913345 11q13.1 11 64878457 G null S T 17 17 missense 0.02 benign 0.05 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1051310913 11q13.1 11 64878454 T null W * 18 18 stop gained 0 A0A024R571 EHD1 EH domain containing 1 ESP,ExAC,TOPMed,gnomAD rs138083441 11q13.1 11 64878448 T null S N 20 20 missense 0.0 benign 0.71 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943913110 11q13.1 11 64878440 G null A P 23 23 missense 0.003 benign 0.26 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1369058183 11q13.1 11 64878439 A null A V 23 23 missense 0.005 benign 0.16 tolerated - low confidence 1 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1179129822 11q13.1 11 64878437 A null R C 24 24 missense 0.013 benign 0.04 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs775447750 11q13.1 11 64878434 A null R C 25 25 missense 0.761 possibly damaging 0.03 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943912964 11q13.1 11 64878430 C null K R 26 26 missense 0.005 benign 0.34 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1565726965 11q13.1 11 64878418 G null E A 30 30 missense 0.2 benign 0.01 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1179575966 11q13.1 11 64878416 C null L V 31 31 missense 0.001 benign 1.0 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs988164257 11q13.1 11 64878412 C null F C 32 32 missense 0.268 benign 0.05 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs988164257 11q13.1 11 64878412 G null F S 32 32 missense 0.29 benign 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1358656321 11q13.1 11 64878406 A null T M 34 34 missense 0.67 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs2136507293 11q13.1 11 64878407 G null T P 34 34 missense 0.92 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs2136507242 11q13.1 11 64878396 G null E D 37 37 missense 0.005 benign 0.45 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs2136507252 11q13.1 11 64878398 G null E Q 37 37 missense 0.091 benign 0.09 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1324979330 11q13.1 11 64878397 A null E V 37 37 missense 0.216 benign 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1260210131 11q13.1 11 64878394 T null G E 38 38 missense 0.058 benign 0.02 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ESP rs145554262 11q13.1 11 64878392 C null L V 39 39 missense 0.824 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs760385045 11q13.1 11 64878388 T null R Q 40 40 missense 0.003 benign 0.14 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1943912026 11q13.1 11 64878389 A null R W 40 40 missense 0.007 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1308017189 11q13.1 11 64878385 C null Q R 41 41 missense 0.0 benign 0.3 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943911793 11q13.1 11 64878382 G null L P 42 42 missense 0.998 probably damaging 0.0 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943911793 11q13.1 11 64878382 C null L R 42 42 missense 0.762 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs772785137 11q13.1 11 64878383 C null L V 42 42 missense 0.077 benign 0.25 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 1000Genomes,TOPMed,gnomAD rs1338503780 11q13.1 11 64878379 C null Y C 43 43 missense 1.0 probably damaging 0.0 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs749640201 11q13.1 11 64878376 C null A G 44 44 missense 0.063 benign 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs749640201 11q13.1 11 64878376 A null A V 44 44 missense 0.01 benign 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs780540022 11q13.1 11 64878373 C null Q R 45 45 missense 0.003 benign 0.26 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs2136507153 11q13.1 11 64878371 G null K Q 46 46 missense 0.975 probably damaging 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs2136507132 11q13.1 11 64878368 T null L M 47 47 missense 0.337 benign 0.02 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1181843765 11q13.1 11 64878365 T null L I 48 48 missense 0.663 possibly damaging 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs770278119 11q13.1 11 64878361 T null P H 49 49 missense 0.998 probably damaging 0.0 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 1000Genomes,ExAC,gnomAD rs527316623 11q13.1 11 64878358 C null L R 50 50 0.000196232 missense 0.942 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs2136507086 11q13.1 11 64878353 T null E K 52 52 missense 0.011 benign 0.11 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1592757060 11q13.1 11 64878349 A null H L 53 53 missense 0.0 benign 0.37 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943911305 11q13.1 11 64878350 A null H Y 53 53 missense 0.0 benign 0.94 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 1000Genomes,TOPMed,gnomAD rs1185875402 11q13.1 11 64878345 C null Y * 54 54 stop gained 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1241683742 11q13.1 11 64878346 C null Y C 54 54 missense 0.995 probably damaging 0.0 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1943911070 11q13.1 11 64878344 A null R C 55 55 missense 0.991 probably damaging 0.07 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs781223385 11q13.1 11 64878343 T null R H 55 55 missense 0.041 benign 0.2 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs781223385 11q13.1 11 64878343 A null R L 55 55 missense 0.077 benign 0.7 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1270521302 11q13.1 11 64878339 C null F L 56 56 missense 0.758 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943910915 11q13.1 11 64878335 A null E * 58 58 stop gained 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs941501200 11q13.1 11 64878333 G null E D 58 58 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 1000Genomes,ExAC,gnomAD rs564948518 11q13.1 11 64878330 C null F L 59 59 missense 0.694 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1943910710 11q13.1 11 64878325 A null S L 61 61 missense 0.543 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943910623 11q13.1 11 64878320 G null A P 63 63 missense 0.001 benign 0.27 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1943910511 11q13.1 11 64878317 T null L M 64 64 missense 0.958 probably damaging 0.05 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1943910511 11q13.1 11 64878317 C null L V 64 64 missense 0.813 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs758153764 11q13.1 11 64878313 C null E G 65 65 missense 0.026 benign 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943910440 11q13.1 11 64878310 G null D A 66 66 missense 0.097 benign 0.06 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ESP,ExAC,gnomAD rs371914053 11q13.1 11 64878303 C null D E 68 68 missense 0.034 benign 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1316872445 11q13.1 11 64878299 G null D H 70 70 missense 0.03 benign 0.04 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1316872445 11q13.1 11 64878299 A null D Y 70 70 missense 0.03 benign 0.02 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943910268 11q13.1 11 64878296 G null N H 71 71 missense 0.036 benign 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1943910131 11q13.1 11 64878294 C null N K 71 71 missense 0.014 benign 0.04 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1246454849 11q13.1 11 64878295 C null N S 71 71 missense 0.0 benign 0.45 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1383361008 11q13.1 11 64878285 T null M I 74 74 missense 0.713 possibly damaging 0.02 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs765192562 11q13.1 11 64878287 G null M L 74 74 missense 0.159 benign 0.06 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs765192562 11q13.1 11 64878287 C null M V 74 74 missense 0.987 probably damaging 0.0 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs963829661 11q13.1 11 64878284 T null V M 75 75 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943909907 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64878281 A null L F 76 76 missense 0.899 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs759533960 11q13.1 11 64878277 G null L P 77 77 missense 1.0 probably damaging 0.0 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1422352959 11q13.1 11 64878275 G null V L 78 78 missense 0.007 benign 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs3205255 11q13.1 11 64878272 T null G R 79 79 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs765959999 11q13.1 11 64878267 A null Q H 80 80 missense 0.988 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs760138247 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64878266 T null Y N 81 81 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1018105660 11q13.1 11 64878262 G null S T 82 82 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1263992665 11q13.1 11 64878259 A null T M 83 83 missense 0.995 probably damaging 0.0 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1221915586 11q13.1 11 64878256 G null G A 84 84 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1221915586 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64878256 T null G D 84 84 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1489904051 11q13.1 11 64878245 T null F I 88 88 missense 0.966 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1489904051 11q13.1 11 64878245 C null F V 88 88 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1279002972 11q13.1 11 64878242 A null I F 89 89 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1943909075 11q13.1 11 64878238 T null R Q 90 90 missense 0.72 possibly damaging 0.07 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs771639688 11q13.1 11 64878235 C null H R 91 91 missense 0.372 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1314190383 11q13.1 11 64878236 A null H Y 91 91 missense 0.007 benign 1.0 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs990876560 11q13.1 11 64878233 C null L V 92 92 missense 0.954 probably damaging 0.02 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1008556692 11q13.1 11 64878230 G null I L 93 93 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 1000Genomes,ExAC,gnomAD rs200295706 11q13.1 11 64878225 A null E D 94 94 0.000196232 missense 0.632 possibly damaging 0.02 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ESP,ExAC,TOPMed,gnomAD rs368813242 11q13.1 11 64878219 C null D E 96 96 missense 0.035 benign 0.23 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1943908679 11q13.1 11 64878221 T null D N 96 96 missense 0.464 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1229517334 11q13.1 11 64878214 A null P L 98 98 missense 0.532 possibly damaging 0.0 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1943908434 11q13.1 11 64878212 T null G R 99 99 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1943908383 11q13.1 11 64878211 A null G V 99 99 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943908344 11q13.1 11 64878208 T null M K 100 100 missense 0.127 benign 0.02 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1047130806 11q13.1 11 64878205 A null R L 101 101 missense 0.863 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs770189746 11q13.1 11 64878199 T null G E 103 103 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs770189746 11q13.1 11 64878199 A null G V 103 103 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs2136506621 11q13.1 11 64878193 G null E A 105 105 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 1000Genomes,ExAC,gnomAD rs531929623 11q13.1 11 64878191 A null P S 106 106 missense 0.998 probably damaging 0.01 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 1000Genomes rs2136506594 11q13.1 11 64878184 C null T S 108 108 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1396188944 11q13.1 11 64878170 A null A S 113 113 missense 0.73 possibly damaging 0.03 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs777987078 11q13.1 11 64878166 T null V D 114 114 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1476665692 11q13.1 11 64878162 T null M I 115 115 missense 0.642 possibly damaging 0.01 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1303588860 11q13.1 11 64878164 G null M L 115 115 missense 0.493 possibly damaging 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943907699 11q13.1 11 64878160 C null H R 116 116 missense 0.26 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs937096645 11q13.1 11 64878158 A null G C 117 117 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1424987063 11q13.1 11 64878157 T null G D 117 117 missense 0.666 possibly damaging 0.22 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs937096645 11q13.1 11 64878158 G null G R 117 117 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs937096645 11q13.1 11 64878158 T null G S 117 117 missense 0.864 possibly damaging 0.06 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1943907591 11q13.1 11 64878154 C null P R 118 118 missense 0.375 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1943907551 11q13.1 11 64878152 C null T A 119 119 missense 0.02 benign 0.54 tolerated - low confidence 1 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs758546434 11q13.1 11 64878148 G null E A 120 120 missense 0.317 benign 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1271251677 11q13.1 11 64878145 T null G D 121 121 missense 0.537 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1479513414 11q13.1 11 64878146 T null G S 121 121 missense 0.107 benign 0.06 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1271251677 11q13.1 11 64878145 A null G V 121 121 missense 0.653 possibly damaging 0.02 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs753021444 11q13.1 11 64878136 C null P R 124 124 missense 0.968 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943906904 11q13.1 11 64878137 T null P T 124 124 missense 0.971 probably damaging 0.02 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,dbSNP,dbSNP,gnomAD rs778829881 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64878133 A null G V 125 125 missense 1.0 probably damaging 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943906701 11q13.1 11 64878131 G null N H 126 126 missense 0.654 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 1000Genomes,ExAC,dbSNP,dbSNP,gnomAD rs542855298 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64878130 C null N S 126 126 0.000196232 missense 0.768 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs766444274 11q13.1 11 64878124 G null L P 128 128 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs766444274 11q13.1 11 64878124 C null L R 128 128 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1275257456 11q13.1 11 64878125 C null L V 128 128 missense 0.924 probably damaging 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1943906374 11q13.1 11 64878122 T null V M 129 129 missense 0.218 benign 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ESP,TOPMed,gnomAD rs140984667 11q13.1 11 64878118 G null V A 130 130 missense 0.967 probably damaging 0.02 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1274970504 11q13.1 11 64878119 A null V L 130 130 missense 0.435 benign 0.02 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1333678998 11q13.1 11 64878112 A null P L 132 132 missense 0.451 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs2136506359 11q13.1 11 64878113 A null P S 132 132 missense 0.342 benign 0.06 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1412002967 11q13.1 11 64878103 A null P L 135 135 missense 0.963 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1565726582 11q13.1 11 64878098 C null R G 137 137 missense 0.889 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1468744839 11q13.1 11 64878097 A null R L 137 137 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1191907896 11q13.1 11 64878093 G null K N 138 138 missense 0.125 benign 0.2 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ESP,ExAC,gnomAD rs375310103 11q13.1 11 64878094 C null K R 138 138 missense 0.215 benign 0.14 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 1000Genomes,ExAC,gnomAD rs765545026 11q13.1 11 64878092 A null L F 139 139 missense 0.998 probably damaging 0.01 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs759915884 11q13.1 11 64878088 C null N S 140 140 missense 0.005 benign 1.0 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1183675105 11q13.1 11 64878079 T null G D 143 143 missense 0.982 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1943905484 11q13.1 11 64878080 T null G S 143 143 missense 0.999 probably damaging 0.02 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1242352044 11q13.1 11 64878075 T null N K 144 144 missense 0.446 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1458065227 11q13.1 11 64878076 C null N S 144 144 missense 0.099 benign 0.01 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943905418 11q13.1 11 64878077 A null N Y 144 144 missense 0.482 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1201657003 11q13.1 11 64878074 G null A P 145 145 missense 0.06 benign 0.02 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1201657003 11q13.1 11 64878074 A null A S 145 145 missense 0.005 benign 0.18 tolerated - low confidence 1 A0A024R571 EHD1 EH domain containing 1 dbSNP,dbSNP,gnomAD rs1201657003 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64878074 T null A T 145 145 missense 0.01 benign 0.16 tolerated - low confidence 1 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs777063700 11q13.1 11 64878073 A null A V 145 145 missense 0.041 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1196925130 11q13.1 11 64878068 A null L F 147 147 missense 0.968 probably damaging 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1565726549 11q13.1 11 64878063 C null N K 148 148 missense 0.214 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943905056 11q13.1 11 64878061 G null R T 149 149 missense 0.87 possibly damaging 0.01 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs763748125 11q13.1 11 64874514 A null M L 151 151 missense 0.0 benign 0.26 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs763748125 11q13.1 11 64874514 C null M V 151 151 missense 0.013 benign 0.37 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1303958442 11q13.1 11 64874511 T null C S 152 152 missense 0.853 possibly damaging 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1373037767 11q13.1 11 64874508 T null A T 153 153 missense 0.372 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1300193499 11q13.1 11 64874505 A null Q * 154 154 stop gained 0 A0A024R571 EHD1 EH domain containing 1 1000Genomes,ExAC,TOPMed,gnomAD rs117115792 11q13.1 11 64874502 C null L V 155 155 0.000196232 missense 0.053 benign 0.57 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs773811724 11q13.1 11 64874495 C null N S 157 157 missense 0.024 benign 0.53 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs773811724 11q13.1 11 64874495 G null N T 157 157 missense 0.231 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs748263460 11q13.1 11 64874493 C null P A 158 158 missense 0.292 benign 0.09 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs748263460 11q13.1 11 64874493 T null P T 158 158 missense 0.887 possibly damaging 0.04 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs914599045 11q13.1 11 64874490 T null V I 159 159 missense 0.078 benign 0.02 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ESP,ExAC,TOPMed,gnomAD rs139892854 11q13.1 11 64874487 C null L V 160 160 missense 0.946 probably damaging 0.02 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1216773151 11q13.1 11 64874474 T null S N 164 164 missense 0.136 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1216773151 11q13.1 11 64874474 G null S T 164 164 missense 0.013 benign 0.43 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 1000Genomes,ExAC,TOPMed,gnomAD rs202024706 11q13.1 11 64874472 C null I V 165 165 missense 0.206 benign 0.12 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943864155 11q13.1 11 64874466 T null D N 167 167 missense 0.998 probably damaging 0.01 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1565724936 11q13.1 11 64874459 C null P R 169 169 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC rs755974607 11q13.1 11 64874457 A null G W 170 170 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1214494513 11q13.1 11 64874442 T null E K 175 175 missense 0.594 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1280108235 11q13.1 11 64874432 T null R Q 178 178 missense 0.396 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs745749443 11q13.1 11 64874433 A null R W 178 178 missense 0.984 probably damaging 0.0 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs921754810 11q13.1 11 64874426 T null S N 180 180 missense 0.0 benign 0.09 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ESP,ExAC,TOPMed,gnomAD rs370682065 11q13.1 11 64860336 T null G D 182 182 missense 0.619 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs913639525 11q13.1 11 64860333 C null Y C 183 183 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ESP,ExAC,TOPMed,gnomAD rs147528048 11q13.1 11 64860329 C null D E 184 184 missense 0.207 benign 0.08 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl,dbSNP,dbSNP rs1333087395 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64860321 A null A V 187 187 missense 0.164 benign 0.02 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs777243803 11q13.1 11 64860319 T null V I 188 188 missense 0.095 benign 0.03 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1458316923 11q13.1 11 64860303 C null A G 193 193 missense 0.816 possibly damaging 0.08 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ESP,ExAC,TOPMed,gnomAD rs372656658 11q13.1 11 64860304 T null A T 193 193 missense 0.985 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1458316923 11q13.1 11 64860303 A null A V 193 193 missense 0.912 probably damaging 0.0 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1592746881 11q13.1 11 64860300 C null E G 194 194 missense 0.804 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 1000Genomes,ExAC,TOPMed,gnomAD rs576058223 11q13.1 11 64860297 T null R H 195 195 0.000196232 missense 0.794 possibly damaging 0.06 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs897861323 11q13.1 11 64860295 T null V M 196 196 missense 0.982 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1592746866 11q13.1 11 64860291 C null D G 197 197 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ESP,ExAC,TOPMed,gnomAD rs144337563 11q13.1 11 64860289 A null R C 198 198 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs747628133 11q13.1 11 64860288 T null R H 198 198 missense 0.992 probably damaging 0.0 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs763144350 11q13.1 11 64860271 T null D N 204 204 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943700379 11q13.1 11 64860261 A null K M 207 207 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1254688704 11q13.1 11 64860259 C null L V 208 208 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs759743110 11q13.1 11 64860251 C null I M 210 210 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1943700218 11q13.1 11 64860253 C null I V 210 210 missense 0.568 possibly damaging 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1260263823 11q13.1 11 64860250 C null S A 211 211 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1478914927 11q13.1 11 64860247 T null D N 212 212 missense 0.757 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs771522896 11q13.1 11 64860242 A null E D 213 213 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs746917690 11q13.1 11 64860244 T null E K 213 213 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1380441842 11q13.1 11 64860240 T null F Y 214 214 missense 0.693 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,dbSNP,dbSNP,gnomAD rs1314796245 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64860237 A null S L 215 215 missense 0.058 benign 0.04 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 ESP,ExAC,gnomAD rs370296006 11q13.1 11 64860233 G null E D 216 216 missense 0.006 benign 0.03 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1334634628 11q13.1 11 64860227 C null I M 218 218 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC rs754658374 11q13.1 11 64860229 C null I V 218 218 missense 0.944 probably damaging 0.0 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1943699596 11q13.1 11 64860225 C null K R 219 219 missense 0.003 benign 0.29 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs753495293 11q13.1 11 64860223 T null A T 220 220 missense 0.13 benign 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1360778451 11q13.1 11 64860220 C null L V 221 221 missense 0.816 possibly damaging 0.05 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs781659919 11q13.1 11 64860214 C null N D 223 223 missense 0.017 benign 0.03 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs2136481140 11q13.1 11 64860212 T null N K 223 223 missense 0.03 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1943699396 11q13.1 11 64860211 T null H N 224 224 missense 0.089 benign 0.48 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1412897403 11q13.1 11 64860208 T null E K 225 225 missense 0.92 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1412897403 11q13.1 11 64860208 G null E Q 225 225 missense 0.661 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs764708094 11q13.1 11 64860204 C null D G 226 226 missense 0.865 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs752061690 11q13.1 11 64860205 T null D N 226 226 missense 0.397 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ESP,gnomAD rs150536999 11q13.1 11 64860201 C null K R 227 227 missense 0.093 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ESP,ExAC,TOPMed,gnomAD rs368130910 11q13.1 11 64860196 A null R C 229 229 missense 0.996 probably damaging 0.0 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs764527030 11q13.1 11 64860195 T null R H 229 229 missense 0.631 possibly damaging 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1592746754 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64860193 T null V M 230 230 missense 0.062 benign 0.0 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1565718120 11q13.1 11 64860178 T null A T 235 235 missense 0.085 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1339079513 11q13.1 11 64860170 G null Q H 237 237 missense 0.729 possibly damaging 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs938894652 11q13.1 11 64860169 C null I V 238 238 missense 0.017 benign 1.0 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ESP,ExAC,TOPMed,gnomAD rs374651114 11q13.1 11 64860166 T null E K 239 239 missense 0.009 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1353963733 11q13.1 11 64860163 C null T A 240 240 missense 0.015 benign 0.22 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs772683924 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64860162 A null T M 240 240 missense 0.86 possibly damaging 0.03 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 Ensembl rs199636551 11q13.1 11 64860160 A null Q * 241 241 stop gained 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1292743440 11q13.1 11 64860149 T null M I 244 244 missense 0.642 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1325840009 11q13.1 11 64860151 A null M L 244 244 missense 0.12 benign 0.03 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1829273429 11q13.1 11 64860150 G null M T 244 244 missense 0.976 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs766122136 11q13.1 11 64860148 C null R G 245 245 missense 1.0 probably damaging 0.0 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs766122136 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64860148 A null R W 245 245 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1592746701 11q13.1 11 64860144 C null V G 246 246 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ESP,ExAC,TOPMed,gnomAD rs142323286 11q13.1 11 64860145 A null V L 246 246 missense 0.985 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943698090 11q13.1 11 64860142 G null Y H 247 247 missense 0.903 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs772003242 11q13.1 11 64860139 T null G R 248 248 missense 0.707 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943698011 11q13.1 11 64860132 G null L P 250 250 missense 0.987 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 dbSNP,dbSNP,gnomAD rs1389025678 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64860130 C null M V 251 251 missense 0.797 possibly damaging 0.0 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 Ensembl rs989198708 11q13.1 11 64860127 G null W R 252 252 missense 0.96 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs748105429 11q13.1 11 64860117 T null G D 255 255 missense 0.043 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs936411919 11q13.1 11 64860118 T null G S 255 255 missense 0.013 benign 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1373015261 11q13.1 11 64860111 G null I T 257 257 missense 0.005 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1478857913 11q13.1 11 64860109 C null I V 258 258 missense 0.001 benign 0.33 tolerated - low confidence 1 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs748926280 11q13.1 11 64860102 A null T I 260 260 missense 0.334 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1592746670 11q13.1 11 64860103 G null T P 260 260 missense 0.668 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1943697397 11q13.1 11 64860099 A null P L 261 261 missense 0.267 benign 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1943697258 11q13.1 11 64860097 A null E * 262 262 stop gained 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943697178 11q13.1 11 64860091 T null V I 264 264 missense 0.001 benign 0.2 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1290798473 11q13.1 11 64860087 T null R K 265 265 missense 0.438 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1943697047 11q13.1 11 64860086 G null R S 265 265 missense 0.828 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1943697015 11q13.1 11 64860081 C null Y C 267 267 missense 0.978 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs758930905 11q13.1 11 64860078 C null I S 268 268 missense 0.733 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1256112036 11q13.1 11 64860079 C null I V 268 268 missense 0.005 benign 0.07 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs765330673 11q13.1 11 64860076 T null G S 269 269 missense 0.116 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs754012326 11q13.1 11 64860073 T null S T 270 270 missense 0.758 possibly damaging 0.04 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1436803458 11q13.1 11 64860072 T null S Y 270 270 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs766603148 11q13.1 11 64860070 G null F L 271 271 missense 0.956 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs760398339 11q13.1 11 64860065 G null W C 272 272 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1592746611 11q13.1 11 64860060 G null H P 274 274 missense 0.007 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 1000Genomes,ESP,ExAC,dbSNP,dbSNP,gnomAD rs137874978 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64860057 A null P L 275 275 0.0002 missense 0.594 possibly damaging 0.0 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs772990090 11q13.1 11 64860058 A null P S 275 275 missense 0.772 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs774181653 11q13.1 11 64860055 C null L V 276 276 missense 0.452 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1477129904 11q13.1 11 64860052 A null L F 277 277 missense 0.262 benign 0.31 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1248674937 11q13.1 11 64860048 T null I N 278 278 missense 0.0 benign 0.45 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ESP,ExAC,TOPMed,gnomAD rs376041030 11q13.1 11 64860046 A null P S 279 279 missense 0.003 benign 0.21 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs910736633 11q13.1 11 64860043 T null D N 280 280 missense 0.01 benign 0.16 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs745572506 11q13.1 11 64860039 C null N S 281 281 missense 0.114 benign 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs145274478 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64860037 A null R C 282 282 missense 0.944 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs758729682 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64860036 T null R H 282 282 missense 0.21 benign 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ESP,ExAC,TOPMed,gnomAD rs145274478 11q13.1 11 64860037 T null R S 282 282 missense 0.752 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 dbSNP,dbSNP,gnomAD rs1237944390 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64860019 T null E K 288 288 missense 0.886 possibly damaging 0.0 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1376582279 11q13.1 11 64860012 C null Q R 290 290 missense 0.021 benign 0.03 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs780177579 11q13.1 11 64859995 A null I F 296 296 missense 0.771 possibly damaging 0.03 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs780177579 11q13.1 11 64859995 C null I V 296 296 missense 0.389 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1943695376 11q13.1 11 64859991 C null Q R 297 297 missense 0.005 benign 0.02 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943695304 11q13.1 11 64859989 T null S T 298 298 missense 0.001 benign 0.09 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1427467380 11q13.1 11 64859982 A null P L 300 300 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1943695104 11q13.1 11 64859980 A null R * 301 301 stop gained 0 A0A024R571 EHD1 EH domain containing 1 ExAC,dbSNP,dbSNP,gnomAD rs767299233 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64859979 T null R Q 301 301 missense 0.221 benign 0.06 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs761533385 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64859974 T null A T 303 303 missense 0.293 benign 0.02 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375367567 11q13.1 11 64859971 T null A T 304 304 missense 0.1 benign 0.08 tolerated - low confidence 1 A0A024R571 EHD1 EH domain containing 1 ESP,ExAC,TOPMed,gnomAD rs143108927 11q13.1 11 64859968 C null L V 305 305 missense 0.089 benign 0.07 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1383678134 11q13.1 11 64859962 C null K E 307 307 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1383678134 11q13.1 11 64859962 G null K Q 307 307 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1405546039 11q13.1 11 64859953 T null D N 310 310 missense 0.672 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1003029260 11q13.1 11 64859941 A null R W 314 314 missense 1.0 probably damaging 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs772435067 11q13.1 11 64859938 A null A S 315 315 missense 0.304 benign 0.02 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1943694344 11q13.1 11 64859934 T null R Q 316 316 missense 0.746 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs748477384 11q13.1 11 64859935 A null R W 316 316 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1168013810 11q13.1 11 64859928 C null A G 318 318 missense 0.28 benign 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,dbSNP,dbSNP,gnomAD rs1216574356 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64855483 A null H Y 321 321 missense 0.905 possibly damaging 0.0 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 ExAC,dbSNP,dbSNP,gnomAD rs747303692 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64855480 T null A T 322 322 missense 0.921 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1219832228 11q13.1 11 64855476 C null Y C 323 323 missense 0.645 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 1000Genomes,TOPMed,gnomAD rs199679486 11q13.1 11 64855477 G null Y H 323 323 missense 0.925 probably damaging 0.11 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 1000Genomes,TOPMed,gnomAD rs199679486 11q13.1 11 64855477 T null Y N 323 323 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs777398166 11q13.1 11 64855474 C null I V 324 324 missense 0.594 possibly damaging 0.04 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs758299802 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64855464 C null S C 327 327 missense 0.003 benign 0.15 tolerated - low confidence 1 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs758299802 11q13.1 11 64855464 A null S F 327 327 missense 0.005 benign 0.54 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1592743690 11q13.1 11 64855462 A null L F 328 328 missense 0.544 possibly damaging 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1943640626 11q13.1 11 64855453 T null E K 331 331 missense 0.007 benign 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1316115979 11q13.1 11 64855447 C null P A 333 333 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs2136474150 11q13.1 11 64855443 C null N S 334 334 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1943640453 11q13.1 11 64855438 G null F L 336 336 missense 0.198 benign 0.03 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943640398 11q13.1 11 64855434 T null G D 337 337 missense 0.954 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs112277567 11q13.1 11 64855429 A null E * 339 339 stop gained 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs752633828 11q13.1 11 64855425 T null S N 340 340 missense 0.003 benign 0.87 tolerated - low confidence 1 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1462611164 11q13.1 11 64855423 C null K E 341 341 missense 0.476 possibly damaging 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs765280172 11q13.1 11 64855419 C null K R 342 342 missense 0.061 benign 0.05 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs913337623 11q13.1 11 64855416 G null K T 343 343 missense 0.588 possibly damaging 0.02 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs890634944 11q13.1 11 64855403 T null N K 347 347 missense 0.001 benign 1.0 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1051928143 11q13.1 11 64855402 C null N D 348 348 missense 0.012 benign 0.16 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1350349145 11q13.1 11 64855401 C null N S 348 348 missense 0.035 benign 0.12 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs764406886 11q13.1 11 64855395 T null G E 350 350 missense 0.001 benign 0.31 tolerated - low confidence 1 A0A024R571 EHD1 EH domain containing 1 ESP,ExAC,TOPMed,gnomAD rs147065799 11q13.1 11 64855396 T null G R 350 350 missense 0.005 benign 0.16 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs764406886 11q13.1 11 64855395 A null G V 350 350 missense 0.04 benign 0.09 tolerated - low confidence 1 A0A024R571 EHD1 EH domain containing 1 TOPMed,dbSNP,dbSNP,gnomAD rs1432170365 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64855391 G null E D 351 351 missense 0.001 benign 0.34 tolerated - low confidence 1 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1468732445 11q13.1 11 64855389 G null I T 352 352 missense 0.646 possibly damaging 0.08 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs763317796 11q13.1 11 64855384 A null Q * 354 354 stop gained 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs775905162 11q13.1 11 64855383 G null Q P 354 354 missense 0.168 benign 0.21 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1943639304 11q13.1 11 64855379 A null K N 355 355 missense 0.007 benign 0.08 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1247699756 11q13.1 11 64855380 C null K R 355 355 missense 0.005 benign 0.63 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1198569163 11q13.1 11 64855377 G null I T 356 356 missense 0.686 possibly damaging 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs769343856 11q13.1 11 64855374 A null E V 357 357 missense 0.044 benign 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs770277984 11q13.1 11 64855372 A null R C 358 358 missense 0.979 probably damaging 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ESP,ExAC,TOPMed,gnomAD rs141684244 11q13.1 11 64855371 T null R H 358 358 missense 0.052 benign 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ESP,ExAC,TOPMed,gnomAD rs369314193 11q13.1 11 64855369 T null E K 359 359 missense 0.007 benign 0.05 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ESP,ExAC,TOPMed,gnomAD rs369314193 11q13.1 11 64855369 G null E Q 359 359 missense 0.021 benign 0.09 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1252131831 11q13.1 11 64855365 G null H P 360 360 missense 0.721 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1287331084 11q13.1 11 64855363 A null Q * 361 361 stop gained 0 A0A024R571 EHD1 EH domain containing 1 1000Genomes rs2136474005 11q13.1 11 64855361 A null Q H 361 361 missense 0.0 benign 0.41 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1592743565 11q13.1 11 64855344 G null F S 367 367 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 1000Genomes,ExAC,gnomAD rs538751200 11q13.1 11 64855341 A null P L 368 368 0.000196232 missense 0.972 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1943638726 11q13.1 11 64855342 A null P S 368 368 missense 0.997 probably damaging 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943638553 11q13.1 11 64855339 A null S C 369 369 missense 0.566 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs778919976 11q13.1 11 64855333 A null R C 371 371 missense 0.135 benign 0.02 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs754955045 11q13.1 11 64855332 T null R H 371 371 missense 0.0 benign 0.05 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs754955045 11q13.1 11 64855332 A null R L 371 371 missense 0.001 benign 0.09 tolerated - low confidence 1 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1943638304 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64855325 T null M I 373 373 missense 0.28 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs753864789 11q13.1 11 64855323 C null Q R 374 374 missense 0.001 benign 0.14 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 1000Genomes,ExAC,TOPMed,gnomAD rs189447161 11q13.1 11 64854855 G null E D 375 375 0.000981162 missense 0.003 benign 0.24 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1286560980 11q13.1 11 64854857 T null E K 375 375 missense 0.007 benign 0.02 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs2136473299 11q13.1 11 64854844 T null T N 379 379 missense 0.001 benign 0.73 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1262602490 11q13.1 11 64854841 C null Q R 380 380 missense 0.022 benign 0.04 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs773420368 11q13.1 11 64854837 C null D E 381 381 missense 0.145 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1314155782 11q13.1 11 64854835 C null F C 382 382 missense 0.982 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs762102313 11q13.1 11 64854834 T null F L 382 382 missense 0.037 benign 0.03 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1339386474 11q13.1 11 64854829 C null K R 384 384 missense 0.057 benign 0.09 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1339386474 11q13.1 11 64854829 G null K T 384 384 missense 0.931 probably damaging 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1421181516 11q13.1 11 64854826 G null F S 385 385 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs774732929 11q13.1 11 64854827 C null F V 385 385 missense 0.852 possibly damaging 0.02 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1159565317 11q13.1 11 64854821 G null A P 387 387 missense 0.0 benign 0.77 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 1000Genomes,TOPMed,gnomAD rs1457787267 11q13.1 11 64854820 A null A V 387 387 missense 0.003 benign 0.21 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1943630438 11q13.1 11 64854817 C null L R 388 388 missense 0.419 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943630359 11q13.1 11 64854814 G null K T 389 389 missense 0.901 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1565715275 11q13.1 11 64854812 A null P S 390 390 missense 0.028 benign 0.07 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 1000Genomes,ExAC,TOPMed,gnomAD rs199557517 11q13.1 11 64854796 A null T M 395 395 missense 0.015 benign 0.06 tolerated - low confidence 1 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1209023423 11q13.1 11 64854794 A null V L 396 396 missense 0.001 benign 0.24 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 1000Genomes,ExAC,gnomAD rs200505838 11q13.1 11 64854790 C null D G 397 397 0.000196232 missense 0.946 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ESP,ExAC,TOPMed,gnomAD rs372649209 11q13.1 11 64854791 T null D N 397 397 missense 0.096 benign 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1275831430 11q13.1 11 64854785 G null M L 399 399 missense 0.006 benign 0.1 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs945198650 11q13.1 11 64854784 G null M T 399 399 missense 0.429 benign 0.02 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1275831430 11q13.1 11 64854785 C null M V 399 399 missense 0.133 benign 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1943629687 11q13.1 11 64854782 C null L V 400 400 missense 0.725 possibly damaging 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1401447662 11q13.1 11 64854779 T null A T 401 401 missense 0.014 benign 0.19 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs751340054 11q13.1 11 64854775 G null N T 402 402 missense 0.0 benign 0.46 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs755240501 11q13.1 11 64854773 T null D N 403 403 missense 0.923 probably damaging 0.01 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1295771316 11q13.1 11 64854768 C null I M 404 404 missense 0.952 probably damaging 0.04 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ESP,ExAC,TOPMed,gnomAD rs139980253 11q13.1 11 64854770 C null I V 404 404 missense 0.083 benign 0.07 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1422999914 11q13.1 11 64854766 T null A E 405 405 missense 0.194 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,dbSNP,dbSNP,gnomAD rs1462494316 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64854767 T null A T 405 405 missense 0.051 benign 0.05 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1422999914 11q13.1 11 64854766 A null A V 405 405 missense 0.464 possibly damaging 0.0 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 ESP,ExAC,TOPMed,gnomAD rs368134228 11q13.1 11 64854763 T null R Q 406 406 missense 0.001 benign 0.3 tolerated - low confidence 1 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs751013780 11q13.1 11 64854764 A null R W 406 406 missense 0.566 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 1000Genomes,gnomAD rs200967520 11q13.1 11 64854750 T null M I 410 410 missense 0.009 benign 0.03 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1943628891 11q13.1 11 64854749 T null V M 411 411 missense 0.089 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs774644717 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64854745 T null R Q 412 412 missense 0.009 benign 0.12 tolerated - low confidence 1 A0A024R571 EHD1 EH domain containing 1 ESP,ExAC,TOPMed,gnomAD rs151119199 11q13.1 11 64854746 A null R W 412 412 missense 0.757 possibly damaging 0.02 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs768914352 11q13.1 11 64854739 C null E G 414 414 missense 0.909 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1214239328 11q13.1 11 64854740 T null E K 414 414 missense 0.103 benign 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1219969389 11q13.1 11 64854736 C null E G 415 415 missense 0.044 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1255537229 11q13.1 11 64854737 G null E Q 415 415 missense 0.127 benign 0.08 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs763155061 11q13.1 11 64854726 T null M I 418 418 missense 0.0 benign 0.23 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1051657504 11q13.1 11 64854716 G null V L 422 422 missense 0.001 benign 0.6 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1051657504 11q13.1 11 64854716 T null V M 422 422 missense 0.015 benign 0.4 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed rs775327121 11q13.1 11 64854710 C null K E 424 424 missense 0.07 benign 0.17 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1230660399 11q13.1 11 64854707 T null G S 425 425 missense 0.846 possibly damaging 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs745758923 11q13.1 11 64854703 T null G D 426 426 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs775486279 11q13.1 11 64854704 T null G S 426 426 missense 0.987 probably damaging 0.01 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 ExAC,dbSNP,dbSNP,gnomAD rs770361784 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64854701 T null A T 427 427 missense 0.991 probably damaging 0.01 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1467264055 11q13.1 11 64854700 A null A V 427 427 missense 0.774 possibly damaging 0.07 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1397360498 11q13.1 11 64854698 G null F L 428 428 missense 0.547 possibly damaging 0.02 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs777205616 11q13.1 11 64854692 A null G C 430 430 missense 0.884 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs758064042 11q13.1 11 64854691 T null G D 430 430 missense 0.012 benign 0.07 tolerated - low confidence 1 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs777205616 11q13.1 11 64854692 T null G S 430 430 missense 0.037 benign 0.06 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1592742928 11q13.1 11 64854689 G null T P 431 431 missense 0.632 possibly damaging 0.03 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1194041615 11q13.1 11 64854685 G null M T 432 432 missense 0.0 benign 0.63 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1943627474 11q13.1 11 64854686 C null M V 432 432 missense 0.0 benign 0.41 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943627272 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64854676 A null P L 435 435 missense 0.361 benign 0.0 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs768139342 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64854671 T null G R 437 437 missense 0.044 benign 0.02 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1198360200 11q13.1 11 64854667 G null H P 438 438 missense 0.309 benign 0.07 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs751688333 11q13.1 11 64854665 T null G S 439 439 missense 0.127 benign 0.04 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943626727 11q13.1 11 64854658 T null G D 441 441 missense 0.137 benign 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs765042811 11q13.1 11 64854647 T null G S 445 445 missense 0.009 benign 0.36 tolerated - low confidence 1 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1404624957 11q13.1 11 64854643 C null E G 446 446 missense 0.012 benign 0.19 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs145959349 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64854644 T null E K 446 446 missense 0.034 benign 0.42 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ESP,ExAC,TOPMed,gnomAD rs145959349 11q13.1 11 64854644 G null E Q 446 446 missense 0.573 possibly damaging 0.23 tolerated - low confidence 1 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1173987847 11q13.1 11 64854638 C null I V 448 448 missense 0.013 benign 0.45 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs747015075 11q13.1 11 64854633 T null D E 449 449 missense 0.007 benign 0.17 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943626189 11q13.1 11 64854634 C null D G 449 449 missense 0.007 benign 0.75 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1470506911 11q13.1 11 64854631 C null D G 450 450 missense 0.015 benign 0.06 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1180429847 11q13.1 11 64854632 T null D N 450 450 missense 0.015 benign 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1943625942 11q13.1 11 64854629 T null V M 451 451 missense 0.04 benign 0.1 tolerated - low confidence 1 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1184789569 11q13.1 11 64854624 A null E D 452 452 missense 0.005 benign 0.39 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1465592519 11q13.1 11 64854613 G null G A 456 456 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1465592519 11q13.1 11 64854613 T null G D 456 456 missense 0.001 benign 0.24 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1215501899 11q13.1 11 64854608 T null D N 458 458 missense 0.116 benign 0.03 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ESP,ExAC,TOPMed,gnomAD rs201012032 11q13.1 11 64854601 A null P L 460 460 missense 0.012 benign 0.3 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs778458817 11q13.1 11 64854602 A null P S 460 460 missense 0.013 benign 0.3 tolerated - low confidence 1 A0A024R571 EHD1 EH domain containing 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146180179 11q13.1 11 64854598 A null T I 461 461 0.000196232 missense 0.005 benign 0.03 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1445964141 11q13.1 11 64854595 C null Y C 462 462 missense 0.196 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1008067847 11q13.1 11 64854591 T null D E 463 463 missense 0.066 benign 0.03 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs200066321 11q13.1 11 64854593 T null D N 463 463 missense 0.103 benign 0.02 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,dbSNP,dbSNP,gnomAD rs1279892217 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64854590 T null E K 464 464 missense 0.031 benign 0.07 tolerated - low confidence 1 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1943625115 11q13.1 11 64854585 C null I M 465 465 missense 0.268 benign 0.04 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs910451434 11q13.1 11 64854580 C null Y C 467 467 missense 0.659 possibly damaging 0.1 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs757811551 11q13.1 11 64854577 A null T M 468 468 missense 0.137 benign 0.09 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs777466279 11q13.1 11 64854574 G null L P 469 469 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1236479445 11q13.1 11 64854575 C null L V 469 469 missense 0.927 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 1000Genomes,ExAC,TOPMed,gnomAD rs558563641 11q13.1 11 64854571 C null S C 470 470 missense 0.824 possibly damaging 0.04 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 1000Genomes,ExAC,TOPMed,gnomAD rs558563641 11q13.1 11 64854571 T null S Y 470 470 missense 0.702 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1485995284 11q13.1 11 64854568 T null P H 471 471 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1188614152 11q13.1 11 64854566 A null V F 472 472 missense 0.391 benign 0.02 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1188614152 11q13.1 11 64854566 T null V I 472 472 missense 0.007 benign 0.56 tolerated - low confidence 1 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs202195664 11q13.1 11 64854561 C null N K 473 473 missense 0.065 benign 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs759813362 11q13.1 11 64854560 T null G S 474 474 missense 0.956 probably damaging 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1177746473 11q13.1 11 64854552 C null I M 476 476 missense 0.628 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1592742699 11q13.1 11 64854554 C null I V 476 476 missense 0.007 benign 0.56 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,dbSNP,dbSNP,gnomAD rs1487135938 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64854550 A null T M 477 477 missense 0.777 possibly damaging 0.04 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1318006288 11q13.1 11 64854545 T null A T 479 479 missense 0.021 benign 0.26 tolerated - low confidence 1 A0A024R571 EHD1 EH domain containing 1 1000Genomes,ExAC,TOPMed,gnomAD rs576194809 11q13.1 11 64854541 C null N S 480 480 0.000196232 missense 0.001 benign 0.7 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs773992056 11q13.1 11 64854539 T null A T 481 481 missense 0.96 probably damaging 0.0 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1338109178 11q13.1 11 64854527 A null M L 485 485 missense 0.007 benign 0.08 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs897745909 11q13.1 11 64854523 G null V A 486 486 missense 0.062 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1943623625 11q13.1 11 64854524 T null V M 486 486 missense 0.062 benign 0.18 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 1000Genomes,ExAC,TOPMed,gnomAD rs556269920 11q13.1 11 64854513 G null K N 489 489 0.000588697 missense 0.028 benign 0.03 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943623356 11q13.1 11 64854511 T null L H 490 490 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs771446626 11q13.1 11 64854509 A null P S 491 491 missense 0.219 benign 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs747511970 11q13.1 11 64854505 C null N S 492 492 missense 0.025 benign 0.08 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943623067 11q13.1 11 64854500 T null V M 494 494 missense 0.358 benign 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1317090714 11q13.1 11 64854497 C null L V 495 495 missense 0.989 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1592742610 11q13.1 11 64854493 T null G E 496 496 missense 0.12 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1425367485 11q13.1 11 64854494 T null G R 496 496 missense 0.015 benign 0.02 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943622819 11q13.1 11 64854480 G null K N 500 500 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 dbSNP,dbSNP,gnomAD rs958886354 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64854473 T null D N 503 503 missense 0.998 probably damaging 0.0 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 gnomAD rs958886354 11q13.1 11 64854473 A null D Y 503 503 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs755160517 11q13.1 11 64854470 G null V L 504 504 missense 0.001 benign 0.09 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs755160517 11q13.1 11 64854470 T null V M 504 504 missense 0.034 benign 0.01 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs754106431 11q13.1 11 64854467 T null D N 505 505 missense 0.034 benign 0.02 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 1000Genomes,ExAC,TOPMed,gnomAD rs567807578 11q13.1 11 64854463 C null K R 506 506 0.000196232 missense 0.0 benign 0.52 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943622316 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64854458 T null G R 508 508 missense 0.991 probably damaging 0.0 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 ESP,ExAC,TOPMed,gnomAD rs370911440 11q13.1 11 64854454 C null L R 509 509 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs775315983 11q13.1 11 64854444 C null D E 512 512 missense 0.001 benign 0.49 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs762647797 11q13.1 11 64854446 T null D N 512 512 missense 0.001 benign 0.1 tolerated - low confidence 1 A0A024R571 EHD1 EH domain containing 1 ESP,ExAC,TOPMed,gnomAD rs367709253 11q13.1 11 64854441 G null E D 513 513 missense 0.0 benign 0.73 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs747349369 11q13.1 11 64854437 G null F L 515 515 missense 0.927 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943621774 11q13.1 11 64854434 A null A S 516 516 missense 0.036 benign 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs772454605 11q13.1 11 64854433 A null A V 516 516 missense 0.1 benign 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ESP,ExAC,TOPMed,gnomAD rs370182623 11q13.1 11 64854431 C null L V 517 517 missense 0.116 benign 0.02 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs755070502 11q13.1 11 64854416 C null I V 522 522 missense 0.006 benign 0.02 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1943621484 11q13.1 11 64854412 G null K T 523 523 missense 0.015 benign 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs1943620540 11q13.1 11 64854391 C null E G 530 530 missense 0.003 benign 0.23 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs267603107 11q13.1 11 64854392 T null E K 530 530 missense 0.033 benign 0.02 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1205468312 11q13.1 11 64854386 A null P S 532 532 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 Ensembl rs1943620277 11q13.1 11 64854382 T null A D 533 533 missense 0.0 benign 0.45 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 1000Genomes,ExAC,TOPMed,gnomAD rs201518487 11q13.1 11 64854383 T null A T 533 533 missense 0.0 benign 0.71 tolerated - low confidence 1 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs762558324 11q13.1 11 64854379 C null D G 534 534 missense 0.006 benign 0.02 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs763660911 11q13.1 11 64854380 T null D N 534 534 missense 0.0 benign 0.06 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1291217449 11q13.1 11 64854374 A null P S 536 536 missense 0.914 probably damaging 0.01 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 1000Genomes,TOPMed,gnomAD rs529387634 11q13.1 11 64854370 A null P L 537 537 0.000196232 missense 0.0 benign 0.21 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs772535208 11q13.1 11 64854362 A null V L 540 540 missense 0.001 benign 0.08 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,gnomAD rs772535208 11q13.1 11 64854362 T null V M 540 540 missense 0.036 benign 0.03 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed,gnomAD rs1436949958 11q13.1 11 64854358 A null P L 541 541 missense 0.653 possibly damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 TOPMed rs954952083 11q13.1 11 64854347 A null R C 545 545 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs774868370 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64854346 T null R H 545 545 missense 0.854 possibly damaging 0.0 deleterious - low confidence 1 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1943619380 11q13.1 11 64854342 A null R S 546 546 missense 0.492 possibly damaging 0.08 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 ExAC,gnomAD rs768654185 11q13.1 11 64854341 A null H Y 547 547 missense 0.0 benign 0.32 tolerated - low confidence 0 A0A024R571 EHD1 EH domain containing 1 gnomAD rs1483024494 11q13.1 11 64854338 T null E K 548 548 missense 0.007 benign 1.0 tolerated - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 ExAC rs758818904 7q31.32 7 123550478 G null V L 2 2 missense 0.205 benign 0.03 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 ExAC,TOPMed,gnomAD rs753157331 7q31.32 7 123550471 A null A V 4 4 missense 0.001 benign 0.45 tolerated - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 TOPMed,gnomAD rs1358750397 7q31.32 7 123545674 A null E D 5 5 missense 0.961 probably damaging 0.0 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 ExAC,gnomAD rs762872113 7q31.32 7 123545672 A null P L 6 6 missense 0.218 benign 0.03 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 TOPMed rs1798106112 7q31.32 7 123545673 T null P T 6 6 missense 0.017 benign 0.13 tolerated - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 ExAC,TOPMed,gnomAD rs764985598 7q31.32 7 123545667 T null V I 8 8 missense 0.055 benign 0.18 tolerated - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 TOPMed rs1798105440 7q31.32 7 123545661 G null K Q 10 10 missense 0.217 benign 0.05 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 TOPMed rs1798105172 7q31.32 7 123545651 C null D G 13 13 missense 0.015 benign 0.05 tolerated - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 TOPMed,gnomAD rs1272288227 7q31.32 7 123545647 G null Q H 14 14 missense 0.672 possibly damaging 0.03 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 ExAC,gnomAD rs758933701 7q31.32 7 123545648 A null Q L 14 14 missense 0.006 benign 0.04 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 ExAC,TOPMed,gnomAD rs772655019 7q31.32 7 123545642 G null Q P 16 16 missense 0.834 possibly damaging 0.05 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 TOPMed,gnomAD rs1213890240 7q31.32 7 123545639 T null G D 17 17 missense 0.059 benign 0.03 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 ESP,ExAC,TOPMed,gnomAD rs377374672 7q31.32 7 123545640 G null G R 17 17 missense 0.849 possibly damaging 0.06 tolerated - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 TOPMed rs1186242982 7q31.32 7 123545636 G null G A 18 18 missense 0.945 probably damaging 0.0 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 ExAC,gnomAD rs548942692 7q31.32 7 123545637 A null G C 18 18 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 TOPMed rs1186242982 7q31.32 7 123545636 T null G D 18 18 missense 0.993 probably damaging 0.02 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 ExAC,gnomAD rs548942692 7q31.32 7 123545637 T null G S 18 18 missense 0.98 probably damaging 0.05 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 gnomAD rs766524825 7q31.32 7 123545634 A null Q * 19 19 stop gained 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 ExAC,TOPMed,gnomAD rs780117293 7q31.32 7 123545628 T null E K 21 21 missense 0.083 benign 0.06 tolerated - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 Ensembl rs1798102699 7q31.32 7 123545624 C null E G 22 22 missense 0.973 probably damaging 0.0 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 TOPMed,gnomAD rs1370286635 7q31.32 7 123545622 T null V M 23 23 missense 0.942 probably damaging 0.04 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 ExAC,gnomAD rs756399898 7q31.32 7 123545611 G null Q H 26 26 missense 0.942 probably damaging 0.02 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 TOPMed rs1797967579 7q31.32 7 123542215 A null E D 28 28 missense 0.516 possibly damaging 0.01 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 Ensembl rs3180371 7q31.32 7 123542216 C null E G 28 28 missense 0.038 benign 0.04 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 TOPMed,gnomAD rs1173678892 7q31.32 7 123542214 C null H D 29 29 missense 0.006 benign 0.06 tolerated - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 TOPMed,gnomAD rs1416974205 7q31.32 7 123542212 C null H Q 29 29 missense 0.013 benign 0.02 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 ESP,ExAC,TOPMed,gnomAD rs149177143 7q31.32 7 123542213 C null H R 29 29 missense 0.007 benign 0.16 tolerated - low confidence 1 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 TOPMed,gnomAD rs1166917305 7q31.32 7 123542211 T null E K 30 30 missense 0.96 probably damaging 0.02 deleterious - low confidence 1 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 ExAC,gnomAD rs763197896 7q31.32 7 123542205 G null N H 32 32 missense 0.0 benign 0.05 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 Ensembl rs1797966536 7q31.32 7 123542199 A null A S 34 34 missense 0.144 benign 0.14 tolerated - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 TOPMed,gnomAD rs1402137230 7q31.32 7 123542196 C null R G 35 35 missense 0.271 benign 0.04 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 ExAC,gnomAD rs769860570 7q31.32 7 123542186 G null R T 38 38 missense 0.0 benign 0.13 tolerated - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 gnomAD rs890933718 7q31.32 7 123542183 C null E G 39 39 missense 0.007 benign 0.05 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 TOPMed rs1333351647 7q31.32 7 123542184 G null E Q 39 39 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 gnomAD rs1213084596 7q31.32 7 123542180 T null W * 40 40 stop gained 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 gnomAD rs1305792296 7q31.32 7 123542179 T null W * 40 40 stop gained 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 ExAC rs781457634 7q31.32 7 123542181 C null W G 40 40 missense 0.966 probably damaging 0.01 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 TOPMed,gnomAD rs1449566812 7q31.32 7 123542178 C null K E 41 41 missense 0.089 benign 0.02 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 1000Genomes rs201881407 7q31.32 7 123542177 C null K R 41 41 missense 0.137 benign 0.03 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 ExAC,gnomAD rs770984972 7q31.32 7 123542174 G null L P 42 42 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 ExAC,gnomAD rs79613983 7q31.32 7 123542172 C null W G 43 43 missense 0.548 possibly damaging 0.02 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 TOPMed rs1797964309 7q31.32 7 123542167 G null E D 44 44 missense 0.892 possibly damaging 0.03 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 ExAC,gnomAD rs777652297 7q31.32 7 123542166 A null P S 45 45 missense 0.377 benign 0.05 tolerated - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 TOPMed,gnomAD rs1338217334 7q31.32 7 123542159 G null V A 47 47 missense 0.015 benign 0.04 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 TOPMed,gnomAD rs1338217334 7q31.32 7 123542159 T null V E 47 47 missense 0.037 benign 0.04 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 gnomAD rs1279848590 7q31.32 7 123542152 G null E D 49 49 missense 0.005 benign 0.03 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 gnomAD rs1354714026 7q31.32 7 123542147 A null P L 51 51 missense 1.0 probably damaging 0.01 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 ExAC,gnomAD rs754524046 7q31.32 7 123542141 C null D G 53 53 missense 0.0 benign 0.07 tolerated - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 ExAC,TOPMed,gnomAD rs778778581 7q31.32 7 123542142 T null D N 53 53 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 ExAC,TOPMed,gnomAD rs778778581 7q31.32 7 123542142 A null D Y 53 53 missense 0.071 benign 0.0 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 ExAC,TOPMed,gnomAD rs753539036 7q31.32 7 123542137 G null Q H 54 54 missense 0.988 probably damaging 0.0 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 TOPMed rs1797962399 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 7q31.32 7 123542128 T null W * 57 57 missense 1 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 ExAC,TOPMed,gnomAD rs766196942 7q31.32 7 123542126 A null P L 58 58 missense 1.0 probably damaging 0.01 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 gnomAD rs1422178337 7q31.32 7 123542127 A null P S 58 58 missense 1.0 probably damaging 0.02 deleterious - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 ESP,ExAC,TOPMed,gnomAD rs145241758 7q31.32 7 123542124 A null I L 59 59 missense 0.006 benign 0.06 tolerated - low confidence 0 A0A024R772 NDUFA5 1 alpha subcomplex subunit 5 Ensembl rs1797961859 7q31.32 7 123542122 C null I M 59 59 missense 0.075 benign 0.15 tolerated - low confidence 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,dbSNP,dbSNP,gnomAD rs755727195 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.2 19 11554341 A null R C 24 24 missense 1 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs775976345 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.2 19 11554340 T null R H 24 24 missense 1 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog TOPMed,dbSNP,dbSNP rs943633264 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.2 19 11554319 A null P L 31 31 missense 1 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs11539252 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.2 19 11554077 A null R C 62 62 missense 1 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog Ensembl rs1972786534 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.2 19 11554076 T null R H 62 62 missense 1 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs768454338 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.2 19 11554071 A null R C 64 64 missense 1 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ESP,ExAC,TOPMed,gnomAD rs375925429 19p13.2 19 11554070 T null R H 64 64 missense 1 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,TOPMed,gnomAD rs745870835 19p13.2 19 11554062 T null G R 67 67 missense 1 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog Ensembl rs1972784925 19p13.2 19 11554013 A null T M 83 83 missense 1 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog 1000Genomes rs2145054955 19p13.2 19 11553796 T null V M 89 89 missense 1 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog Ensembl rs2145054893 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.2 19 11553772 G null D H 97 97 missense 1 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog Ensembl rs1295156015 19p13.2 19 11553763 T null E K 100 100 missense 1 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ESP,ExAC,TOPMed,gnomAD rs372431965 19p13.2 19 11553759 A null A V 101 101 missense 1 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,gnomAD rs1019901096 19p13.11 19 19193951 C null E A 2 2 missense 0.979 probably damaging 0.0 deleterious - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs1237895296 19p13.11 19 19193952 T null E D 2 2 missense 0.979 probably damaging 0.03 deleterious - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,gnomAD rs1019901096 19p13.11 19 19193951 G null E G 2 2 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs1488966736 19p13.11 19 19193957 T null T I 4 4 missense 0.994 probably damaging 0.01 deleterious - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,gnomAD rs772043527 19p13.11 19 19193956 C null T P 4 4 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,gnomAD rs746728542 19p13.11 19 19193962 G null P A 6 6 missense 0.083 benign 0.02 deleterious - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,gnomAD rs1326107852 19p13.11 19 19193963 T null P L 6 6 missense 0.003 benign 0.08 tolerated - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,gnomAD rs746728542 19p13.11 19 19193962 A null P T 6 6 missense 0.12 benign 0.05 deleterious - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,gnomAD rs776148883 19p13.11 19 19193965 A null A T 7 7 missense 0.111 benign 0.06 tolerated - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs1183893593 19p13.11 19 19193966 T null A V 7 7 missense 0.111 benign 0.05 deleterious - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,gnomAD rs770297156 19p13.11 19 19193968 A null E K 8 8 missense 0.111 benign 0.04 deleterious - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein Ensembl,dbSNP rs2060549059 [ClinVar]: MHC class II deficiency 19p13.11 19 19193974 G null L V 10 10 missense 0.979 probably damaging 0.01 deleterious - low confidence 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV002020734 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,dbSNP rs1009789125 [ClinVar]: MHC class II deficiency 19p13.11 19 19193977 T null I F 11 11 missense 0.015 benign 0.19 tolerated - low confidence 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV002017638 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs1157183741 19p13.11 19 19193982 C null Q H 12 12 missense 0.119 benign 0.05 deleterious - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein Ensembl rs2146461706 19p13.11 19 19193981 T null Q L 12 12 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs373342097 [ClinVar]: MHC class II deficiency 19p13.11 19 19193983 T null T S 13 13 missense 0.005 benign 0.2 tolerated - low confidence 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001231805 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs1312378543 19p13.11 19 19193992 G null T A 16 16 missense 0.0 benign 0.18 tolerated - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,dbSNP,gnomAD rs764499202 [ClinVar]: Inborn genetic diseases, [ClinVar]: MHC class II deficiency 19p13.11 19 19193993 T null T I 16 16 missense 0.0 benign 0.06 tolerated - low confidence 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV004671496 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,dbSNP,gnomAD rs764499202 [ClinVar]: Inborn genetic diseases, [ClinVar]: MHC class II deficiency 19p13.11 19 19193993 T null T I 16 16 missense 0.0 benign 0.06 tolerated - low confidence 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001908200 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,dbSNP,gnomAD rs764499202 [ClinVar]: MHC class II deficiency 19p13.11 19 19193993 A null T N 16 16 missense 0.0 benign 0.02 deleterious - low confidence 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001245444 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,gnomAD rs764499202 19p13.11 19 19193993 G null T S 16 16 missense 0.0 benign 0.44 tolerated - low confidence 1 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs1312378543 19p13.11 19 19193992 T null T S 16 16 missense 0.0 benign 0.44 tolerated - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,dbSNP,gnomAD rs1156936548 [ClinVar]: MHC class II deficiency 19p13.11 19 19193995 G null P A 17 17 missense 0.013 benign 0.08 tolerated - low confidence 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV000809067 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs1425835390 19p13.11 19 19194001 G null S A 19 19 missense 0.0 benign 0.04 deleterious - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs2060549997 19p13.11 19 19194005 G null E G 20 20 missense 0.159 benign 0.07 tolerated - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,dbSNP,gnomAD rs761951873 [ClinVar]: MHC class II deficiency 19p13.11 19 19194008 C null L P 21 21 missense 0.001 benign 0.1 tolerated - low confidence 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001926195 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs1379607348 19p13.11 19 19194007 G null L V 21 21 missense 0.051 benign 0.06 tolerated - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,gnomAD rs1355433000 19p13.11 19 19194011 A null G E 22 22 missense 0.003 benign 0.12 tolerated - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,dbSNP,gnomAD rs968833538 [ClinVar]: MHC class II deficiency 19p13.11 19 19194010 A null G R 22 22 missense 0.003 benign 0.18 tolerated - low confidence 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001318024 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,gnomAD rs756191972 19p13.11 19 19194029 A null G E 28 28 missense 0.051 benign 0.32 tolerated - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs559367724 [ClinVar]: Inborn genetic diseases, [ClinVar]: MHC class II deficiency, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.11 19 19194028 C null G R 28 28 missense 0.001 benign 0.74 tolerated - low confidence 1 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV004044235 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs559367724 [ClinVar]: Inborn genetic diseases, [ClinVar]: MHC class II deficiency, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.11 19 19194028 C null G R 28 28 missense 0.001 benign 0.74 tolerated - low confidence 1 MHC class II deficiency MIM:PS209920 ClinVar:RCV001921746 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,gnomAD rs778890706 19p13.11 19 19194035 G null E G 30 30 missense 0.631 possibly damaging 0.05 tolerated - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,gnomAD rs924654241 19p13.11 19 19194034 C null E Q 30 30 missense 0.7 possibly damaging 0.01 deleterious - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs1212837083 19p13.11 19 19194037 A null A T 31 31 missense 0.003 benign 0.15 tolerated - low confidence 1 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ESP,ExAC,TOPMed,gnomAD rs376225883 19p13.11 19 19194038 T null A V 31 31 missense 0.082 benign 0.15 tolerated - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs114064359 [ClinVar]: MHC class II deficiency 19p13.11 19 19194041 T null A V 32 32 0.00156986 missense 0.003 benign 0.19 tolerated - low confidence 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV000647950 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs1177218011 19p13.11 19 19194043 T null D Y 33 33 missense 0.946 probably damaging 0.0 deleterious - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,gnomAD rs1240212432 19p13.11 19 19194047 A null G D 34 34 missense 0.003 benign 0.18 tolerated - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,gnomAD rs1240212432 19p13.11 19 19194047 T null G V 34 34 missense 0.309 benign 0.03 deleterious - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein Ensembl rs751129186 19p13.11 19 19194050 G null S * 35 35 stop gained 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs1173014899 19p13.11 19 19194054 G null D E 36 36 missense 0.067 benign 0.25 tolerated - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,dbSNP,gnomAD rs1290480803 [ClinVar]: Inborn genetic diseases, [ClinVar]: MHC class II deficiency 19p13.11 19 19194058 A null V M 38 38 missense 0.934 probably damaging 0.01 deleterious - low confidence 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV004036784 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,dbSNP,gnomAD rs1290480803 [ClinVar]: Inborn genetic diseases, [ClinVar]: MHC class II deficiency 19p13.11 19 19194058 A null V M 38 38 missense 0.934 probably damaging 0.01 deleterious - low confidence 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001360932 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,gnomAD rs746814298 19p13.11 19 19194061 A null V I 39 39 missense 0.011 benign 0.22 tolerated - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,gnomAD rs770661421 19p13.11 19 19194075 A null F L 43 43 missense 0.003 benign 0.08 tolerated - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,gnomAD rs1340297024 19p13.11 19 19194074 C null F S 43 43 missense 0.148 benign 0.05 deleterious - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,gnomAD rs1359837593 19p13.11 19 19194077 T null P L 44 44 missense 0.569 possibly damaging 0.0 deleterious - low confidence 1 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,gnomAD rs780741433 19p13.11 19 19194076 T null P S 44 44 missense 0.445 benign 0.01 deleterious - low confidence 1 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,gnomAD rs769234114 19p13.11 19 19194079 C null C R 45 45 missense 0.469 possibly damaging 0.01 deleterious - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs953884677 19p13.11 19 19194089 C null E A 48 48 missense 0.051 benign 0.04 deleterious - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs34282046 [ClinVar]: MHC class II deficiency 19p13.11 19 19194090 T null E D 48 48 missense 1 MHC class II deficiency MIM:PS209920 ClinVar:RCV000296111 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs953884677 19p13.11 19 19194089 G null E G 48 48 missense 0.051 benign 0.07 tolerated - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ESP,ExAC,TOPMed,gnomAD rs369403645 19p13.11 19 19194094 A null V M 50 50 missense 0.003 benign 0.12 tolerated - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs1364864540 19p13.11 19 19194101 A null P H 52 52 missense 0.531 possibly damaging 0.06 tolerated - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein dbSNP,gnomAD rs1364864540 [ClinVar]: MHC class II deficiency 19p13.11 19 19194101 T null P L 52 52 missense 0.019 benign 0.03 deleterious - low confidence 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001063412 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed rs912409307 19p13.11 19 19194107 T null P L 54 54 missense 0.0 benign 0.49 tolerated - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein Ensembl rs2060552807 19p13.11 19 19194110 G null D G 55 55 missense 0.445 benign 0.08 tolerated - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed rs1741673973 19p13.11 19 19194112 A null A T 56 56 missense 0.003 benign 0.14 tolerated - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs1307452669 19p13.11 19 19194115 G null S G 57 57 missense 0.0 benign 0.79 tolerated - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed rs1431730261 19p13.11 19 19194119 C null V A 58 58 missense 0.0 benign 0.86 tolerated - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ESP,TOPMed rs373095352 19p13.11 19 19194118 A null V I 58 58 missense 0.009 benign 0.46 tolerated - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein dbSNP,gnomAD rs1197099934 [ClinVar]: MHC class II deficiency 19p13.11 19 19194121 G null S A 59 59 missense 0.003 benign 0.22 tolerated - low confidence 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001889162 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs142461365 [ClinVar]: Inborn genetic diseases, [ClinVar]: MHC class II deficiency 19p13.11 19 19194125 T null S F 60 60 missense 0.579 possibly damaging 0.05 tolerated - low confidence 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002556795 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs142461365 [ClinVar]: Inborn genetic diseases, [ClinVar]: MHC class II deficiency 19p13.11 19 19194125 T null S F 60 60 missense 0.579 possibly damaging 0.05 tolerated - low confidence 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001127910 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed rs2060553436 19p13.11 19 19194127 T null P S 61 61 missense 0.038 benign 0.45 tolerated - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs150525759 [ClinVar]: MHC class II deficiency 19p13.11 19 19194133 A null G S 63 63 missense 0.765 possibly damaging 0.12 tolerated - low confidence 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV000687490 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein Ensembl,dbSNP rs2060609779 [ClinVar]: MHC class II deficiency 19p13.11 19 19196966 T null G V 63 63 missense 0.882 possibly damaging 0.05 deleterious - low confidence 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001036682 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs1300551779 19p13.11 19 19196971 C null S P 65 65 missense 0.001 benign 0.54 tolerated 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs1300551779 19p13.11 19 19196971 A null S T 65 65 missense 0.177 benign 0.32 tolerated 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein Ensembl rs1568578546 19p13.11 19 19196972 A null S Y 65 65 missense 0.145 benign 0.25 tolerated 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs1233012700 19p13.11 19 19196979 T null K N 67 67 missense 0.406 benign 0.05 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,gnomAD rs764092902 19p13.11 19 19196978 G null K R 67 67 missense 0.406 benign 0.02 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs1300437440 19p13.11 19 19196981 G null H R 68 68 missense 0.607 possibly damaging 0.02 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,gnomAD rs757059776 19p13.11 19 19196990 T null T I 71 71 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,gnomAD rs767281603 19p13.11 19 19196993 G null L R 72 72 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein Ensembl rs2060610241 19p13.11 19 19196996 T null T I 73 73 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,gnomAD rs1231256421 19p13.11 19 19196999 G null N S 74 74 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,gnomAD rs755661612 19p13.11 19 19197002 A null R Q 75 75 missense 0.893 possibly damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs368808881 [ClinVar]: MHC class II deficiency, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.11 19 19197001 T null R W 75 75 missense 0.992 probably damaging 0.0 deleterious 1 MHC class II deficiency MIM:PS209920 ClinVar:RCV000795958 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,dbSNP,gnomAD rs779699696 [ClinVar]: MHC class II deficiency 19p13.11 19 19197007 T null R * 77 77 missense 1 MHC class II deficiency MIM:PS209920 ClinVar:RCV001051631 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ESP,ExAC,TOPMed,gnomAD rs375541634 19p13.11 19 19197008 T null R L 77 77 missense 0.999 probably damaging 0.02 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs375541634 [ClinVar]: MHC class II deficiency 19p13.11 19 19197008 A null R Q 77 77 missense 1.0 probably damaging 0.0 deleterious 1 MHC class II deficiency MIM:PS209920 ClinVar:RCV000809077 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs1473689675 19p13.11 19 19197018 C null E D 80 80 missense 0.945 probably damaging 0.0 deleterious 1 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,dbSNP,gnomAD rs779382779 [ClinVar]: MHC class II deficiency 19p13.11 19 19197016 A null E K 80 80 missense 0.942 probably damaging 0.02 deleterious 1 MHC class II deficiency MIM:PS209920 ClinVar:RCV000817083 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein Ensembl rs1599780837 19p13.11 19 19197020 G null V G 81 81 missense 0.923 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs2060610659 19p13.11 19 19197019 T null V L 81 81 missense 0.337 benign 0.07 tolerated 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein Ensembl rs866391864 19p13.11 19 19197025 A null A T 83 83 missense 0.135 benign 0.14 tolerated 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,gnomAD rs748724203 19p13.11 19 19197031 G null P A 85 85 missense 1.0 probably damaging 0.02 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs545211228 [ClinVar]: MHC class II deficiency 19p13.11 19 19197032 T null P L 85 85 0.000196232 missense 1.0 probably damaging 0.0 deleterious 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001047533 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein 1000Genomes,ExAC,TOPMed,gnomAD rs545211228 19p13.11 19 19197032 A null P Q 85 85 0.000196232 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,gnomAD rs748724203 19p13.11 19 19197031 T null P S 85 85 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs1361658343 19p13.11 19 19197034 A null A T 86 86 missense 0.763 possibly damaging 0.08 tolerated 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein dbSNP rs1568578747 [ClinVar]: MHC class II deficiency 19p13.11 19 19197041_19197043 l null LD H 88 89 - 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV000692999 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs2060611354 19p13.11 19 19197040 A null L I 88 88 missense 0.46 possibly damaging 0.18 tolerated 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ESP,ExAC,TOPMed,gnomAD rs374843362 19p13.11 19 19197522 G null C W 90 90 missense 0.461 possibly damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed rs2060622263 19p13.11 19 19197525 G null D E 91 91 missense 0.003 benign 1.0 tolerated 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein Ensembl rs1599782188 19p13.11 19 19197527 C null N T 92 92 missense 0.014 benign 0.06 tolerated 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed rs2060622307 19p13.11 19 19197526 T null N Y 92 92 missense 0.906 possibly damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs145448880 [ClinVar]: MHC class II deficiency 19p13.11 19 19197532 A null V I 94 94 0.000392465 missense 0.003 benign 0.97 tolerated 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001222505 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,gnomAD rs2060622503 19p13.11 19 19197538 G null K E 96 96 missense 0.103 benign 0.02 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,gnomAD rs2097620493 19p13.11 19 19197544 A null D N 98 98 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein Ensembl,dbSNP rs104894709 [ClinVar]: MHC class II deficiency 2, [ClinVar]: MHC class II deficiency pubmed:12618906 19p13.11 19 19197545 T null D V 98 98 missense 1.0 probably damaging 0.0 deleterious 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV000985115 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein Ensembl,dbSNP rs104894709 [ClinVar]: MHC class II deficiency 2, [ClinVar]: MHC class II deficiency pubmed:12618906 19p13.11 19 19197545 T null D V 98 98 missense 1.0 probably damaging 0.0 deleterious 0 MHC class II deficiency 2 MIM:620815 ClinVar:RCV004576880 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,gnomAD rs769689430 19p13.11 19 19197547 A null E K 99 99 missense 0.359 benign 0.02 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,dbSNP,gnomAD rs775003911 [ClinVar]: MHC class II deficiency 19p13.11 19 19197550 T null R C 100 100 missense 0.856 possibly damaging 0.0 deleterious 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001914593 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,dbSNP,gnomAD rs762597760 [ClinVar]: MHC class II deficiency 19p13.11 19 19197551 A null R H 100 100 missense 0.038 benign 0.07 tolerated 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001976622 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs377750233 [ClinVar]: MHC class II deficiency 19p13.11 19 19197553 A null G S 101 101 missense 1.0 probably damaging 0.0 deleterious 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001981415 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein Ensembl rs1599782292 19p13.11 19 19197559 C null T P 103 103 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,gnomAD rs2060623200 19p13.11 19 19197563 A null P H 104 104 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,gnomAD rs2060623200 19p13.11 19 19197563 T null P L 104 104 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs1439415098 19p13.11 19 19197562 A null P T 104 104 missense 0.992 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein dbSNP rs770387882 [ClinVar]: MHC class II deficiency 19p13.11 19 19197566 l null L null 105 105 frameshift 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001385858 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC rs756530632 19p13.11 19 19197580 A null A T 110 110 missense 0.989 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein Ensembl,dbSNP rs2146488425 [ClinVar]: MHC class II deficiency 19p13.11 19 19197583 C null F L 111 111 missense 0.956 probably damaging 0.0 deleterious 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001373281 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed rs1021022752 19p13.11 19 19197587 A null G E 112 112 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,dbSNP,dbSNP rs1481704512 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.11 19 19197589 A null E K 113 113 missense 0.928 probably damaging 0.01 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein Ensembl,dbSNP rs2060623718 [ClinVar]: MHC class II deficiency 19p13.11 19 19197592 T null I F 114 114 missense 0.969 probably damaging 0.0 deleterious 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001122154 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed rs2060623767 19p13.11 19 19197593 C null I T 114 114 missense 0.998 probably damaging 0.02 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,gnomAD rs754170563 19p13.11 19 19197597 C null E D 115 115 missense 0.024 benign 0.08 tolerated 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein Ensembl rs2060623873 19p13.11 19 19197595 C null E Q 115 115 missense 0.022 benign 0.07 tolerated 1 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,dbSNP,dbSNP,gnomAD rs906618330 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.11 19 19197599 T null T I 116 116 missense 0.67 possibly damaging 0.03 deleterious 1 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,gnomAD rs1382983710 19p13.11 19 19197601 A null V I 117 117 missense 0.674 possibly damaging 0.01 deleterious 1 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,dbSNP,gnomAD rs779039407 [ClinVar]: MHC class II deficiency 19p13.11 19 19197604 T null R C 118 118 missense 0.167 benign 0.0 deleterious 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV000347711 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,gnomAD rs779039407 19p13.11 19 19197604 G null R G 118 118 missense 0.763 possibly damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,gnomAD rs758522910 19p13.11 19 19197605 A null R H 118 118 missense 0.968 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,gnomAD rs1206746915 19p13.11 19 19197609 A null F L 119 119 missense 0.769 possibly damaging 0.04 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs2060624382 19p13.11 19 19197607 G null F V 119 119 missense 0.961 probably damaging 0.01 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein Ensembl rs2146488774 19p13.11 19 19197613 A null L M 121 121 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein Ensembl rs2146488792 19p13.11 19 19197614 G null L R 121 121 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,gnomAD rs775296271 19p13.11 19 19197621 A null W * 123 123 stop gained 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,dbSNP,gnomAD rs778357787 [ClinVar]: MHC class II deficiency 19p13.11 19 19197620 A null W * 123 123 stop gained 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV000779255 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein dbSNP,gnomAD rs1301129319 [ClinVar]: MHC class II deficiency 19p13.11 19 19197619 G null W G 123 123 missense 0.244 benign 0.17 tolerated 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001986544 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs1301129319 19p13.11 19 19197619 C null W R 123 123 missense 0.007 benign 0.71 tolerated 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed rs2060633781 19p13.11 19 19198107 T null G C 124 124 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,gnomAD rs771867382 19p13.11 19 19198108 A null G D 124 124 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,gnomAD rs1483730599 19p13.11 19 19198115 A null D E 126 126 missense 0.382 benign 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115220304 19p13.11 19 19198113 C null D H 126 126 0.00235479 missense 0.947 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs115220304 [ClinVar]: MHC class II deficiency, [ClinVar]: RFXANK-related disorder 19p13.11 19 19198113 A null D N 126 126 0.00235479 missense 0.087 benign 0.02 deleterious 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV000647953 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs115220304 [ClinVar]: MHC class II deficiency, [ClinVar]: RFXANK-related disorder 19p13.11 19 19198113 A null D N 126 126 0.00235479 missense 0.087 benign 0.02 deleterious 0 RFXANK-related disorder ClinVar:RCV003945639 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein Ensembl,dbSNP rs2146492497 [ClinVar]: MHC class II deficiency 19p13.11 19 19198117 G null P R 127 127 missense 1.0 probably damaging 0.0 deleterious 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001362059 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,gnomAD rs771437963 19p13.11 19 19198119 T null H Y 128 128 missense 0.918 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein dbSNP rs753338285 [ClinVar]: MHC class II deficiency 19p13.11 19 19198122_19198123 l null I null 129 129 frameshift 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV000850361 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,gnomAD rs2060634265 19p13.11 19 19198123 A null I N 129 129 missense 0.387 benign 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,gnomAD rs777058246 19p13.11 19 19198122 G null I V 129 129 missense 0.001 benign 0.34 tolerated 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein dbSNP rs2060634316 [ClinVar]: MHC class II deficiency 19p13.11 19 19198128 l null A null 131 131 frameshift 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001253463 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,gnomAD rs765659642 19p13.11 19 19198131 G null K E 132 132 missense 0.779 possibly damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,gnomAD rs765659642 19p13.11 19 19198131 C null K Q 132 132 missense 0.957 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,dbSNP,dbSNP,gnomAD rs1475656044 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19p13.11 19 19198137 T null R * 134 134 missense 1 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,gnomAD rs763100974 19p13.11 19 19198138 T null R L 134 134 missense 0.872 possibly damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,gnomAD rs763100974 19p13.11 19 19198138 A null R Q 134 134 missense 0.981 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC rs764319239 19p13.11 19 19198141 C null E A 135 135 missense 0.966 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC rs751594870 19p13.11 19 19198143 C null S R 136 136 missense 0.993 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs368281475 [ClinVar]: MHC class II deficiency 19p13.11 19 19198145 A null S R 136 136 missense 0.993 probably damaging 0.0 deleterious 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV000985219 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,dbSNP,gnomAD rs780019385 [ClinVar]: Inborn genetic diseases, [ClinVar]: MHC class II deficiency, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.11 19 19198146 A null A T 137 137 missense 0.932 probably damaging 0.03 deleterious 1 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002553174 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,dbSNP,gnomAD rs780019385 [ClinVar]: Inborn genetic diseases, [ClinVar]: MHC class II deficiency, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.11 19 19198146 A null A T 137 137 missense 0.932 probably damaging 0.03 deleterious 1 MHC class II deficiency MIM:PS209920 ClinVar:RCV001047988 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein dbSNP rs2146492780 [ClinVar]: MHC class II deficiency 19p13.11 19 19198149 l null L null 138 138 frameshift 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV002244132 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,dbSNP,gnomAD rs753776724 [ClinVar]: MHC class II deficiency, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.11 19 19198153 T null S L 139 139 missense 0.555 possibly damaging 0.0 deleterious 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001877802 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,gnomAD rs778781120 19p13.11 19 19198159 T null A V 141 141 missense 0.974 probably damaging 0.0 deleterious 1 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,gnomAD rs989833829 19p13.11 19 19198161 G null S G 142 142 missense 0.137 benign 0.01 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,gnomAD rs1398711276 19p13.11 19 19198162 C null S T 142 142 missense 0.892 possibly damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed rs2060635264 19p13.11 19 19198168 C null G A 144 144 missense 0.841 possibly damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs1327386243 19p13.11 19 19198167 T null G C 144 144 missense 0.993 probably damaging 0.01 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein Ensembl rs2060635385 19p13.11 19 19198170 A null G S 145 145 missense 0.993 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs1424876858 19p13.11 19 19198173 C null Y H 146 146 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,gnomAD rs746506139 19p13.11 19 19198180 G null D G 148 148 missense 0.994 probably damaging 0.02 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,gnomAD rs886054309 19p13.11 19 19198182 C null I L 149 149 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed rs1428063418 19p13.11 19 19198184 G null I M 149 149 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,dbSNP,gnomAD rs886054309 [ClinVar]: MHC class II deficiency 19p13.11 19 19198182 G null I V 149 149 missense 0.997 probably damaging 0.0 deleterious 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV000402039 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,gnomAD rs777194266 19p13.11 19 19198189 T null G V 151 151 missense 0.0 benign 0.33 tolerated 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein Ensembl,dbSNP rs2060635912 [ClinVar]: MHC class II deficiency 19p13.11 19 19198192 C null L P 152 152 missense 0.85 possibly damaging 0.0 deleterious 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001340797 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs151053440 19p13.11 19 19198197 A null L M 154 154 0.000196232 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs151053440 [ClinVar]: Inborn genetic diseases, [ClinVar]: MHC class II deficiency 19p13.11 19 19198197 G null L V 154 154 0.000196232 missense 0.757 possibly damaging 0.01 deleterious 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV003169441 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs151053440 [ClinVar]: Inborn genetic diseases, [ClinVar]: MHC class II deficiency 19p13.11 19 19198197 G null L V 154 154 0.000196232 missense 0.757 possibly damaging 0.01 deleterious 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV000943941 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein Ensembl,dbSNP rs2146493181 [ClinVar]: MHC class II deficiency 19p13.11 19 19198200 T null E * 155 155 stop gained 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001944477 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs372111384 [ClinVar]: MHC class II deficiency 19p13.11 19 19198201 C null E A 155 155 0.000196232 missense 0.144 benign 0.02 deleterious 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV000799276 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372111384 19p13.11 19 19198201 T null E V 155 155 0.000196232 missense 0.409 benign 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs115964828 [ClinVar]: MHC class II deficiency 19p13.11 19 19198203 T null R C 156 156 0.00235479 missense 0.005 benign 0.27 tolerated 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001124922 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs562901844 [ClinVar]: MHC class II deficiency, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.11 19 19198204 A null R H 156 156 missense 0.005 benign 0.55 tolerated 1 MHC class II deficiency MIM:PS209920 ClinVar:RCV001124923 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein 1000Genomes,ExAC,TOPMed,gnomAD rs115964828 19p13.11 19 19198203 A null R S 156 156 0.00235479 missense 0.1 benign 0.04 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,gnomAD rs761939764 19p13.11 19 19198209 A null V M 158 158 missense 0.974 probably damaging 0.0 deleterious 1 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs1379140459 19p13.11 19 19198216 C null I T 160 160 missense 0.973 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs140946419 [ClinVar]: MHC class II deficiency 19p13.11 19 19198219 G null N S 161 161 missense 0.849 possibly damaging 0.02 deleterious 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001319047 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ESP,ExAC,TOPMed,gnomAD rs140946419 19p13.11 19 19198219 C null N T 161 161 missense 0.885 possibly damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein Ensembl,dbSNP rs1599784374 [ClinVar]: MHC class II deficiency 19p13.11 19 19198226 A null Y * 163 163 stop gained 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001261595 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,gnomAD rs754824751 19p13.11 19 19198224 A null Y N 163 163 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,gnomAD rs752740364 19p13.11 19 19198657 C null N H 166 166 missense 0.881 possibly damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed rs2060643374 19p13.11 19 19198664 A null G E 168 168 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs1398406438 19p13.11 19 19198663 T null G W 168 168 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein dbSNP,dbSNP,gnomAD rs1393172112 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.11 19 19198667 T null T M 169 169 missense 0.992 probably damaging 0.0 deleterious 1 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs1281377020 19p13.11 19 19198679 G null Y C 173 173 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,dbSNP,gnomAD rs745335142 [ClinVar]: MHC class II deficiency 19p13.11 19 19198681 A null A T 174 174 missense 0.977 probably damaging 0.0 deleterious 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001926700 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,dbSNP,gnomAD rs749859039 [ClinVar]: MHC class II deficiency, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.11 19 19198687 T null R C 176 176 missense 0.995 probably damaging 0.0 deleterious 1 MHC class II deficiency MIM:PS209920 ClinVar:RCV000819452 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,dbSNP,gnomAD rs769155207 [ClinVar]: MHC class II deficiency 19p13.11 19 19198688 A null R H 176 176 missense 0.316 benign 0.2 tolerated 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV002036174 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,gnomAD rs749859039 19p13.11 19 19198687 A null R S 176 176 missense 0.971 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein dbSNP rs2146496053 [ClinVar]: MHC class II deficiency 19p13.11 19 19198691_19198692 l null G null 177 177 frameshift 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001932009 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,dbSNP,gnomAD rs772154823 [ClinVar]: MHC class II deficiency 19p13.11 19 19198691 C null G A 177 177 missense 0.99 probably damaging 0.02 deleterious 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001239071 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,gnomAD rs772154823 19p13.11 19 19198691 A null G E 177 177 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,dbSNP,gnomAD rs748578827 [ClinVar]: MHC class II deficiency 19p13.11 19 19198690 A null G R 177 177 missense 0.999 probably damaging 0.0 deleterious 1 MHC class II deficiency MIM:PS209920 ClinVar:RCV000808699 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,dbSNP rs1599785560 [ClinVar]: MHC class II deficiency 19p13.11 19 19198694 T null N I 178 178 missense 0.997 probably damaging 0.0 deleterious 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV000802902 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs554811149 [ClinVar]: Inborn genetic diseases, [ClinVar]: MHC class II deficiency 19p13.11 19 19198698 A null H Q 179 179 missense 0.996 probably damaging 0.02 deleterious 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002543154 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs554811149 [ClinVar]: Inborn genetic diseases, [ClinVar]: MHC class II deficiency 19p13.11 19 19198698 A null H Q 179 179 missense 0.996 probably damaging 0.02 deleterious 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001306065 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,gnomAD rs1170452718 19p13.11 19 19198697 G null H R 179 179 missense 0.975 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,gnomAD rs1480941310 19p13.11 19 19198696 T null H Y 179 179 missense 0.992 probably damaging 0.02 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,gnomAD rs762928386 19p13.11 19 19198699 A null V M 180 180 missense 0.181 benign 0.02 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein 1000Genomes,ExAC,TOPMed,gnomAD rs201676379 19p13.11 19 19198704 C null K N 181 181 0.000196232 missense 0.987 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein Ensembl rs1599785615 19p13.11 19 19198703 G null K R 181 181 missense 0.066 benign 0.12 tolerated 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,gnomAD rs2060644619 19p13.11 19 19198709 G null V G 183 183 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,gnomAD rs751270105 19p13.11 19 19198708 A null V I 183 183 missense 0.484 possibly damaging 0.01 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed rs2060644672 19p13.11 19 19198711 C null E Q 184 184 missense 0.288 benign 0.03 deleterious 1 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs140748502 [ClinVar]: MHC class II deficiency 19p13.11 19 19198715 T null A V 185 185 missense 0.105 benign 0.1 tolerated 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV000647946 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein Ensembl,dbSNP rs2146496301 [ClinVar]: MHC class II deficiency 19p13.11 19 19198721 C null L P 187 187 missense 1.0 probably damaging 0.0 deleterious 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV002020437 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,dbSNP,gnomAD rs1277340509 [ClinVar]: MHC class II deficiency 19p13.11 19 19198723 A null A T 188 188 missense 0.546 possibly damaging 0.01 deleterious 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001216440 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,dbSNP,gnomAD rs747402973 [ClinVar]: MHC class II deficiency 2, [ClinVar]: MHC class II deficiency, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:12618906,pubmed:37584719 19p13.11 19 19199156 T null R * 189 189 missense 1 MHC class II deficiency MIM:PS209920 ClinVar:RCV001388116 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,dbSNP,gnomAD rs747402973 [ClinVar]: MHC class II deficiency 2, [ClinVar]: MHC class II deficiency, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:12618906,pubmed:37584719 19p13.11 19 19199156 T null R * 189 189 missense 1 MHC class II deficiency 2 MIM:620815 ClinVar:RCV004576989 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,dbSNP,gnomAD rs757517948 [ClinVar]: MHC class II deficiency, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.11 19 19199157 A null R Q 189 189 missense 0.365 benign 0.05 tolerated 1 MHC class II deficiency MIM:PS209920 ClinVar:RCV000306670 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,gnomAD rs781601864 19p13.11 19 19199159 T null G C 190 190 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,gnomAD rs769970316 19p13.11 19 19199162 A null A T 191 191 missense 0.655 possibly damaging 0.0 deleterious 1 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,gnomAD rs2060653864 19p13.11 19 19199168 G null L V 193 193 missense 0.29 benign 0.01 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,dbSNP,gnomAD rs751386365 [ClinVar]: Inherited Immunodeficiency Diseases, [ClinVar]: MHC class II deficiency 2, [UniProt]: MHC2D2; loss of expression pubmed:10725724,pubmed:22649097 pubmed:10725724,pubmed:11463838 19p13.11 19 19198676 C null L P 195 195 missense 0 Inherited Immunodeficiency Diseases ClinVar:RCV001027618 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,dbSNP,gnomAD rs751386365 [ClinVar]: Inherited Immunodeficiency Diseases, [ClinVar]: MHC class II deficiency 2, [UniProt]: MHC2D2; loss of expression pubmed:10725724,pubmed:22649097 pubmed:10725724,pubmed:11463838 19p13.11 19 19198676 C null L P 195 195 missense 0 MHC class II deficiency 2 MIM:620815 ClinVar:RCV004576980 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,dbSNP,gnomAD rs751386365 [ClinVar]: Inherited Immunodeficiency Diseases, [ClinVar]: MHC class II deficiency 2, [UniProt]: MHC2D2; loss of expression pubmed:10725724,pubmed:22649097 pubmed:10725724,pubmed:11463838 19p13.11 19 19198676 C null L P 195 195 missense 0 MHC class II deficiency 2 (MHC2D2) An autosomal recessive disorder characterized by immunodeficiency and recurrent bacterial, viral, fungal and parasitic infections in early infancy. Additional manifestations include failure to thrive, chronic diarrhea, and autoimmune features and allergies that may be present in some patients. Death often occurs in infancy or early childhood. MIM:620815 pubmed:10072068,pubmed:10725724,pubmed:22649097,pubmed:30170160,pubmed:37584719,pubmed:9806546 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein dbSNP,dbSNP,gnomAD rs1481038979 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.11 19 19199177 A null E K 196 196 missense 0.935 probably damaging 0.0 deleterious 1 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,dbSNP,gnomAD rs1479307125 [ClinVar]: MHC class II deficiency, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.11 19 19199183 A null D N 198 198 missense 0.532 possibly damaging 0.0 deleterious 1 MHC class II deficiency MIM:PS209920 ClinVar:RCV001971060 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,gnomAD rs1479307125 19p13.11 19 19199183 T null D Y 198 198 missense 0.951 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,gnomAD rs760492401 19p13.11 19 19199190 C null G A 200 200 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,gnomAD rs760492401 19p13.11 19 19199190 A null G D 200 200 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ESP,ExAC,TOPMed,gnomAD rs376955692 19p13.11 19 19199193 G null Y C 201 201 missense 0.975 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,gnomAD rs758964462 19p13.11 19 19199196 T null T I 202 202 missense 0.127 benign 0.0 deleterious 1 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,gnomAD rs758964462 19p13.11 19 19199196 A null T N 202 202 missense 0.055 benign 0.3 tolerated 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs377347305 [ClinVar]: MHC class II deficiency 19p13.11 19 19199199 T null P L 203 203 missense 0.854 possibly damaging 0.0 deleterious 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001315875 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,gnomAD rs764732273 19p13.11 19 19199202 G null M R 204 204 missense 0.006 benign 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,gnomAD rs764732273 19p13.11 19 19199202 C null M T 204 204 missense 0.704 possibly damaging 0.01 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs757742036 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.11 19 19199213 A null V M 208 208 missense 0.176 benign 0.0 deleterious 1 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,dbSNP rs2060654956 [ClinVar]: MHC class II deficiency 19p13.11 19 19199223 A null G E 211 211 missense 0.597 possibly damaging 0.02 deleterious 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001317805 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,gnomAD rs746164654 19p13.11 19 19199225 C null Y H 212 212 missense 0.2 benign 1.0 tolerated 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143964319 19p13.11 19 19199228 G null R G 213 213 0.000981162 missense 0.802 possibly damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,gnomAD rs780122862 19p13.11 19 19199229 C null R P 213 213 missense 0.24 benign 0.04 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,gnomAD rs780122862 19p13.11 19 19199229 A null R Q 213 213 missense 0.303 benign 0.01 deleterious 1 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs143964319 [ClinVar]: MHC class II deficiency 19p13.11 19 19199228 T null R W 213 213 0.000981162 missense 0.915 probably damaging 0.0 deleterious 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV000647945 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs1269324522 19p13.11 19 19199231 G null K E 214 214 missense 0.29 benign 0.02 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed rs2060720790 19p13.11 19 19201649 C null V A 215 215 missense 0.701 possibly damaging 0.04 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,dbSNP,gnomAD rs769532234 [ClinVar]: MHC class II deficiency 19p13.11 19 19201657 T null V L 218 218 missense 0.006 benign 0.07 tolerated 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001321015 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,gnomAD rs769532234 19p13.11 19 19201657 A null V M 218 218 missense 0.656 possibly damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs200043123 [ClinVar]: MHC class II deficiency 19p13.11 19 19201662 G null I M 219 219 missense 0.249 benign 0.25 tolerated 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV000647944 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,gnomAD rs1456448826 19p13.11 19 19201663 A null E K 220 220 missense 0.904 possibly damaging 0.01 deleterious 1 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed rs2060721130 19p13.11 19 19201667 C null N T 221 221 missense 0.005 benign 0.09 tolerated 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,gnomAD rs1015461724 19p13.11 19 19201669 G null H D 222 222 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,gnomAD rs1015461724 19p13.11 19 19201669 T null H Y 222 222 missense 0.999 probably damaging 0.03 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein Ensembl rs2060721200 19p13.11 19 19201673 A null I N 223 223 missense 0.987 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed rs2060721271 19p13.11 19 19201676 C null L P 224 224 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ESP,ExAC,TOPMed,gnomAD rs377064458 19p13.11 19 19201681 G null L V 226 226 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1802498 19p13.11 19 19201687 T null Q * 228 228 stop gained 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,dbSNP,gnomAD rs761097826 [ClinVar]: MHC class II deficiency 19p13.11 19 19201690 G null S G 229 229 missense 0.006 benign 0.07 tolerated - low confidence 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV001049272 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein Ensembl rs2146521983 19p13.11 19 19201693 C null N H 230 230 missense 0.185 benign 0.02 deleterious - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,gnomAD rs765477759 19p13.11 19 19201703 T null P L 233 233 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,dbSNP,gnomAD rs759707164 [ClinVar]: MHC class II deficiency 19p13.11 19 19201702 T null P S 233 233 missense 0.998 probably damaging 0.01 deleterious - low confidence 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV000807418 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,gnomAD rs1294355115 19p13.11 19 19201705 A null A T 234 234 missense 0.0 benign 0.46 tolerated - low confidence 1 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,gnomAD rs199868077 19p13.11 19 19201711 G null P A 236 236 missense 0.005 benign 0.05 tolerated - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein TOPMed,gnomAD rs2060722349 19p13.11 19 19201712 A null P H 236 236 missense 0.748 possibly damaging 0.0 deleterious - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,dbSNP,gnomAD rs199868077 [ClinVar]: MHC class II deficiency 19p13.11 19 19201711 T null P S 236 236 missense 0.138 benign 0.01 deleterious - low confidence 0 MHC class II deficiency MIM:PS209920 ClinVar:RCV000896156 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,TOPMed,gnomAD rs199868077 19p13.11 19 19201711 A null P T 236 236 missense 0.138 benign 0.0 deleterious - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ExAC,gnomAD rs756078268 19p13.11 19 19201715 C null E A 237 237 missense 0.97 probably damaging 0.0 deleterious - low confidence 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs150729244 [ClinVar]: Inborn genetic diseases, [ClinVar]: MHC class II deficiency 19p13.11 19 19201714 A null E K 237 237 missense 0.97 probably damaging 0.0 deleterious - low confidence 1 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV003160514 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs150729244 [ClinVar]: Inborn genetic diseases, [ClinVar]: MHC class II deficiency 19p13.11 19 19201714 A null E K 237 237 missense 0.97 probably damaging 0.0 deleterious - low confidence 1 MHC class II deficiency MIM:PS209920 ClinVar:RCV001063031 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein gnomAD rs2060722705 19p13.11 19 19201719 G null * W 238 238 stop lost 0 A0A024R7P0 RFXANK Regulatory factor X associated ankyrin containing protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1802498 [ClinVar]: MHC class II deficiency 19p13.11 19 19201687 G null Q E 251 251 missense 1 MHC class II deficiency MIM:PS209920 ClinVar:RCV000525677 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs200374147 8q12.3 8 63186168 C null S P 2 2 missense 0.914 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs139728132 8q12.3 8 63186172 G null D G 3 3 missense 0.958 probably damaging 0.0 deleterious 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1472505316 8q12.3 8 63186180 T null M L 6 6 missense 0.275 benign 0.95 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1472505316 8q12.3 8 63186180 G null M V 6 6 missense 0.275 benign 0.1 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs755677765 8q12.3 8 63186187 A null S N 8 8 missense 0.833 possibly damaging 0.19 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1380111417 8q12.3 8 63186192 C null Y H 10 10 missense 0.97 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1808489927 8q12.3 8 63186193 C null Y S 10 10 missense 0.97 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs777802604 8q12.3 8 63186195 A null A T 11 11 missense 0.958 probably damaging 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1808491346 8q12.3 8 63186205 C null I T 14 14 missense 0.846 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs749247122 8q12.3 8 63186204 G null I V 14 14 missense 0.467 possibly damaging 0.08 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC rs757043254 8q12.3 8 63186222 G null L V 20 20 missense 0.903 possibly damaging 0.09 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1310588388 8q12.3 8 63186234 A null A T 24 24 missense 0.958 probably damaging 0.25 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1340523612 8q12.3 8 63186235 T null A V 24 24 missense 0.938 probably damaging 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1352320447 8q12.3 8 63186238 T null W L 25 25 missense 0.905 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs776951090 8q12.3 8 63186253 C null D A 30 30 missense 0.97 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1307590918 8q12.3 8 63186252 C null D H 30 30 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1808493950 8q12.3 8 63186258 T null P S 32 32 missense 0.97 probably damaging 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1808494431 8q12.3 8 63186263 A null M I 33 33 missense 0.39 benign 0.45 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs748138153 8q12.3 8 63186261 G null M V 33 33 missense 0.275 benign 0.06 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1808495042 8q12.3 8 63186268 T null Y F 35 35 missense 0.903 possibly damaging 0.31 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1808495216 8q12.3 8 63186273 T null T S 37 37 missense 0.903 possibly damaging 0.28 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1253383386 8q12.3 8 63186276 G null T A 38 38 missense 0.903 possibly damaging 0.45 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1808495598 8q12.3 8 63186286 G null Q R 41 41 missense 0.782 possibly damaging 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1231721269 8q12.3 8 63186292 A null S N 43 43 missense 0.833 possibly damaging 0.08 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1808497744 8q12.3 8 63186307 G null H R 48 48 missense 0.846 possibly damaging 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1287534319 8q12.3 8 63186310 G null Y C 49 49 missense 0.721 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1014099388 8q12.3 8 63186312 C null I L 50 50 missense 0.467 possibly damaging 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs769939625 8q12.3 8 63186315 G null P A 51 51 missense 0.958 probably damaging 0.25 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1482918755 8q12.3 8 63186316 T null P L 51 51 missense 0.981 probably damaging 0.06 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1808499288 8q12.3 8 63186318 A null D N 52 52 missense 0.958 probably damaging 0.04 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1808499463 8q12.3 8 63186321 A null G S 53 53 missense 0.987 probably damaging 0.08 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs771521146 8q12.3 8 63186336 G null P A 58 58 missense 0.034 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1037783524 8q12.3 8 63186337 T null P L 58 58 missense 0.417 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs771521146 8q12.3 8 63186336 A null P T 58 58 missense 0.497 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs763456577 8q12.3 8 63186342 A null A T 60 60 missense 0.034 benign 0.2 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1211912168 8q12.3 8 63186352 G null N S 63 63 missense 0.903 possibly damaging 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1211912168 8q12.3 8 63186352 C null N T 63 63 missense 0.934 probably damaging 0.07 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1304568727 8q12.3 8 63186360 T null P S 66 66 missense 0.97 probably damaging 0.11 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,dbSNP,dbSNP,gnomAD rs1174148188 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q12.3 8 63186366 T null L F 68 68 missense 0.97 probably damaging 0.03 deleterious 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1808502983 8q12.3 8 63186370 A null G D 69 69 missense 0.344 benign 0.43 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1455662146 8q12.3 8 63186378 A null G R 72 72 missense 0.996 probably damaging 0.44 tolerated 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1360236329 8q12.3 8 63186394 T null P L 77 77 missense 0.981 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs752412447 8q12.3 8 63186396 A null G S 78 78 missense 0.987 probably damaging 0.89 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1199160329 8q12.3 8 63186399 C null N H 79 79 missense 0.98 probably damaging 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1808505271 8q12.3 8 63186403 G null A G 80 80 missense 0.938 probably damaging 0.57 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs267601964 8q12.3 8 63186410 A null F L 82 82 missense 0.273 benign 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1341759262 8q12.3 8 63186414 G null T A 84 84 missense 0.903 possibly damaging 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs763699606 8q12.3 8 63186426 G null S G 88 88 missense 0.833 possibly damaging 0.07 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs753463627 8q12.3 8 63186427 A null S N 88 88 missense 0.833 possibly damaging 0.26 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1257556040 8q12.3 8 63186451 G null Q R 96 96 missense 0.782 possibly damaging 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs970092062 8q12.3 8 63186453 G null S G 97 97 missense 0.342 benign 0.13 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs757245389 8q12.3 8 63186455 A null S R 97 97 missense 0.729 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1349449494 8q12.3 8 63186464 A null Y * 100 100 stop gained 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1387898634 8q12.3 8 63186471 G null S G 103 103 missense 0.833 possibly damaging 0.11 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1808509512 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q12.3 8 63186489 G null S G 109 109 missense 0.833 possibly damaging 0.03 deleterious 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs2150372808 8q12.3 8 63186490 C null S T 109 109 missense 0.833 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs906756052 8q12.3 8 63186495 G null L V 111 111 missense 0.903 possibly damaging 0.05 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1356070814 8q12.3 8 63186499 T null G V 112 112 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1808509741 8q12.3 8 63186498 T null G W 112 112 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs745618517 8q12.3 8 63186505 G null A G 114 114 missense 0.938 probably damaging 0.08 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1808510636 8q12.3 8 63186507 G null I V 115 115 missense 0.467 possibly damaging 0.57 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1003733429 8q12.3 8 63186517 C null G A 118 118 missense 0.982 probably damaging 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1808511080 8q12.3 8 63186516 C null G R 118 118 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein dbSNP,dbSNP,gnomAD rs1454606619 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q12.3 8 63186522 A null A T 120 120 missense 0.958 probably damaging 0.71 tolerated 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1295524712 8q12.3 8 63186526 A null G E 121 121 missense 0.995 probably damaging 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1808512788 8q12.3 8 63186531 C null G R 123 123 missense 0.996 probably damaging 0.27 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein 1000Genomes,ExAC,TOPMed,gnomAD rs573898918 8q12.3 8 63186535 G null N S 124 124 0.000392465 missense 0.0 benign 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs781222654 8q12.3 8 63186541 A null T N 126 126 missense 0.363 benign 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs781222654 8q12.3 8 63186541 G null T S 126 126 missense 0.033 benign 0.18 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1374578995 8q12.3 8 63186544 G null L W 127 127 missense 0.985 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs748417403 8q12.3 8 63186548 A null S R 128 128 missense 0.946 probably damaging 0.06 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs769696584 8q12.3 8 63186553 G null V G 130 130 missense 0.93 probably damaging 0.07 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs778188005 8q12.3 8 63186561 G null I V 133 133 missense 0.022 benign 0.18 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs749430267 8q12.3 8 63186565 T null S I 134 134 missense 0.436 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs771410194 8q12.3 8 63186567 G null S G 135 135 missense 0.833 possibly damaging 0.04 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1186727270 8q12.3 8 63186571 C null I T 136 136 missense 0.846 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1358702676 8q12.3 8 63186570 G null I V 136 136 missense 0.467 possibly damaging 0.53 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1421266578 8q12.3 8 63186575 C null E D 137 137 missense 0.015 benign 0.36 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs774882606 8q12.3 8 63186577 C null Q P 138 138 missense 0.846 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1406665873 8q12.3 8 63186579 A null G S 139 139 missense 0.987 probably damaging 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs2150373007 8q12.3 8 63186584 T null M I 140 140 missense 0.39 benign 0.07 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1808517077 8q12.3 8 63186582 T null M L 140 140 missense 0.275 benign 0.04 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs13255728 8q12.3 8 63186585 G null T A 141 141 missense 0.027 benign 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs13255987 8q12.3 8 63186585 T null T S 141 141 missense 0.215 benign 0.3 tolerated 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1808517891 8q12.3 8 63186598 C null I T 145 145 missense 0.266 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1387989520 8q12.3 8 63186610 G null L R 149 149 missense 0.129 benign 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs767933495 8q12.3 8 63186612 G null T A 150 150 missense 0.036 benign 0.67 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs760368020 8q12.3 8 63186615 C null A P 151 151 missense 0.436 benign 0.16 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein 1000Genomes,ExAC,gnomAD rs544382837 8q12.3 8 63186618 T null A S 152 152 0.000196232 missense 0.938 probably damaging 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1808519896 8q12.3 8 63186619 T null A V 152 152 missense 0.938 probably damaging 0.2 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC rs753373699 8q12.3 8 63186633 A null V I 157 157 missense 0.792 possibly damaging 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs750251668 8q12.3 8 63186636 C null G R 158 158 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs756867588 8q12.3 8 63186639 G null T A 159 159 missense 0.003 benign 0.12 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs758071490 8q12.3 8 63186655 A null S N 164 164 missense 0.04 benign 0.18 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1808522437 8q12.3 8 63186654 C null S R 164 164 missense 0.04 benign 0.05 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs772802725 8q12.3 8 63186657 A null G S 165 165 missense 0.987 probably damaging 0.57 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1411811367 8q12.3 8 63186661 C null M T 166 166 missense 0.609 possibly damaging 0.3 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ESP,ExAC,TOPMed,gnomAD rs201903186 8q12.3 8 63186667 A null S N 168 168 missense 0.833 possibly damaging 0.04 deleterious 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1808524702 8q12.3 8 63186669 G null I V 169 169 missense 0.015 benign 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1808525302 8q12.3 8 63186672 A null A T 170 170 missense 0.34 benign 0.11 tolerated 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1429741243 8q12.3 8 63186676 T null T I 171 171 missense 0.057 benign 0.12 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs771034100 8q12.3 8 63186679 G null N S 172 172 missense 0.045 benign 0.21 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs749338824 8q12.3 8 63186678 T null N Y 172 172 missense 0.802 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61740399 8q12.3 8 63186682 A null S N 173 173 0.00902669 missense 0.013 benign 0.23 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1401328415 8q12.3 8 63186688 T null P L 175 175 missense 0.981 probably damaging 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1563401820 8q12.3 8 63186687 T null P S 175 175 missense 0.97 probably damaging 0.1 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1320405161 8q12.3 8 63186691 T null P L 176 176 missense 0.981 probably damaging 0.0 deleterious 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1436049766 8q12.3 8 63186694 G null V G 177 177 missense 0.771 possibly damaging 0.12 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs746387401 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q12.3 8 63186697 A null S N 178 178 missense 0.013 benign 0.15 tolerated 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs746387401 8q12.3 8 63186697 C null S T 178 178 missense 0.197 benign 0.43 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs987018453 8q12.3 8 63186700 C null S T 179 179 missense 0.833 possibly damaging 0.52 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1347776731 8q12.3 8 63186709 T null P L 182 182 missense 0.981 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1487556492 8q12.3 8 63186711 G null K E 183 183 missense 0.903 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1808529281 8q12.3 8 63186712 T null K I 183 183 missense 0.98 probably damaging 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs772519482 8q12.3 8 63186714 G null P A 184 184 missense 0.958 probably damaging 0.05 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1585759092 8q12.3 8 63186717 G null T A 185 185 missense 0.006 benign 0.43 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs760992097 8q12.3 8 63186718 T null T I 185 185 missense 0.272 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1585759092 8q12.3 8 63186717 C null T P 185 185 missense 0.356 benign 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs776453859 8q12.3 8 63186720 A null S T 186 186 missense 0.833 possibly damaging 0.17 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs764853148 8q12.3 8 63186732 G null I V 190 190 missense 0.467 possibly damaging 0.08 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ESP,ExAC,TOPMed,gnomAD rs370117149 8q12.3 8 63186738 G null R G 192 192 missense 0.197 benign 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1585759171 8q12.3 8 63186743 C null K N 193 193 missense 0.952 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs920033275 8q12.3 8 63186756 T null Q * 198 198 stop gained 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1808533914 8q12.3 8 63186758 T null Q H 198 198 missense 0.95 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1470484863 8q12.3 8 63186760 T null P L 199 199 missense 0.981 probably damaging 0.1 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs751349389 8q12.3 8 63186759 T null P S 199 199 missense 0.97 probably damaging 0.05 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1401403842 8q12.3 8 63186771 A null P T 203 203 missense 0.981 probably damaging 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1387183451 8q12.3 8 63186774 G null K E 204 204 missense 0.903 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1808535560 8q12.3 8 63186775 G null K R 204 204 missense 0.903 possibly damaging 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1301644028 8q12.3 8 63186780 C null N H 206 206 missense 0.98 probably damaging 0.04 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200284548 8q12.3 8 63186781 G null N S 206 206 0.000588697 missense 0.903 possibly damaging 0.33 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1301644028 8q12.3 8 63186780 T null N Y 206 206 missense 0.98 probably damaging 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1808537275 8q12.3 8 63186790 C null I T 209 209 missense 0.091 benign 0.28 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1367728289 8q12.3 8 63186789 G null I V 209 209 missense 0.009 benign 0.32 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed rs779043943 8q12.3 8 63186796 T null G V 211 211 missense 0.622 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs745990022 8q12.3 8 63186798 C null S P 212 212 missense 0.0 benign 0.31 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs772608530 8q12.3 8 63186801 C null A P 213 213 missense 0.729 possibly damaging 0.14 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs780463786 8q12.3 8 63186802 T null A V 213 213 missense 0.364 benign 0.18 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1585759346 8q12.3 8 63186804 C null V L 214 214 missense 0.036 benign 1.0 tolerated 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1444993722 8q12.3 8 63186808 T null P L 215 215 missense 0.981 probably damaging 0.15 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1808539682 8q12.3 8 63186816 G null P A 218 218 missense 0.958 probably damaging 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1808540441 8q12.3 8 63186821 G null I M 219 219 missense 0.927 probably damaging 0.09 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs747337578 8q12.3 8 63186819 G null I V 219 219 missense 0.467 possibly damaging 0.08 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs771234146 8q12.3 8 63186822 G null K E 220 220 missense 0.903 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1808541345 8q12.3 8 63186830 G null N K 222 222 missense 0.934 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1244667483 8q12.3 8 63186829 G null N S 222 222 missense 0.903 possibly damaging 0.04 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs962515764 8q12.3 8 63186833 T null M I 223 223 missense 0.001 benign 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1046018521 8q12.3 8 63186832 C null M T 223 223 missense 0.058 benign 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs769164848 8q12.3 8 63186831 G null M V 223 223 missense 0.009 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1276218385 8q12.3 8 63186834 C null N H 224 224 missense 0.98 probably damaging 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs776365957 8q12.3 8 63186837 G null I V 225 225 missense 0.467 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs973902131 8q12.3 8 63186851 G null D E 229 229 missense 0.05 benign 0.16 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1808543011 8q12.3 8 63186850 G null D G 229 229 missense 0.686 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1234964985 8q12.3 8 63186856 G null K R 231 231 missense 0.903 possibly damaging 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs2150373555 8q12.3 8 63186858 C null G R 232 232 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs761562716 8q12.3 8 63186859 T null G V 232 232 missense 0.995 probably damaging 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs769401599 8q12.3 8 63186862 T null S L 233 233 missense 0.273 benign 0.04 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1483110032 8q12.3 8 63186864 C null V L 234 234 missense 0.003 benign 0.15 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1328292355 8q12.3 8 63186867 A null V I 235 235 missense 0.14 benign 0.06 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs772767802 8q12.3 8 63186870 G null K E 236 236 missense 0.903 possibly damaging 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1808544738 8q12.3 8 63186871 G null K R 236 236 missense 0.903 possibly damaging 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs762422750 8q12.3 8 63186873 A null A T 237 237 missense 0.494 possibly damaging 0.1 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1440257654 8q12.3 8 63186874 T null A V 237 237 missense 0.494 possibly damaging 0.15 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs766311978 8q12.3 8 63186877 A null P Q 238 238 missense 0.0 unknown 0.09 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1251739533 8q12.3 8 63186876 A null P T 238 238 missense 0.0 unknown 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1001639777 8q12.3 8 63186880 T null P L 239 239 missense 0.0 unknown 0.21 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1001639777 8q12.3 8 63186880 A null P Q 239 239 missense 0.0 unknown 0.1 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1032663224 8q12.3 8 63186882 G null T A 240 240 missense 0.0 unknown 0.72 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs759282105 8q12.3 8 63186883 A null T N 240 240 missense 0.0 unknown 0.44 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1032663224 8q12.3 8 63186882 T null T S 240 240 missense 0.0 unknown 0.59 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1167632086 8q12.3 8 63186888 T null P S 242 242 missense 0.0 unknown 0.23 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1808548140 8q12.3 8 63186892 C null V A 243 243 missense 0.0 unknown 0.16 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1464419119 8q12.3 8 63186894 A null L M 244 244 missense 0.0 unknown 0.3 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1464419119 8q12.3 8 63186894 G null L V 244 244 missense 0.0 unknown 0.56 tolerated 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs767300438 8q12.3 8 63186897 T null P S 245 245 missense 0.0 unknown 0.17 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs767300438 8q12.3 8 63186897 A null P T 245 245 missense 0.0 unknown 0.04 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1419190017 8q12.3 8 63186903 G null Q E 247 247 missense 0.0 unknown 0.05 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs892910092 8q12.3 8 63186907 T null T I 248 248 missense 0.0 unknown 0.09 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1808549985 8q12.3 8 63186906 T null T S 248 248 missense 0.0 unknown 0.58 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1808550392 8q12.3 8 63186909 G null I V 249 249 missense 0.0 unknown 0.69 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1009961596 8q12.3 8 63186913 G null I S 250 250 missense 0.0 unknown 0.57 tolerated - low confidence 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1047701169 8q12.3 8 63186922 T null P L 253 253 missense 0.0 unknown 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1047701169 8q12.3 8 63186922 G null P R 253 253 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1808551493 8q12.3 8 63186936 G null Q E 258 258 missense 0.0 unknown 0.2 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs765423467 8q12.3 8 63186942 T null P S 260 260 missense 0.0 unknown 0.1 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1020473519 8q12.3 8 63186955 G null Q R 264 264 missense 0.0 unknown 0.15 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs955485957 8q12.3 8 63186961 G null Q R 266 266 missense 0.0 unknown 0.26 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1432857863 8q12.3 8 63186971 T null Q H 269 269 missense 0.0 unknown 0.26 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1808553573 8q12.3 8 63186969 A null Q K 269 269 missense 0.0 unknown 0.29 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1808554117 8q12.3 8 63186976 T null Q L 271 271 missense 0.0 unknown 0.26 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1225737280 8q12.3 8 63186979 T null P L 272 272 missense 0.0 unknown 0.47 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1808555147 8q12.3 8 63186984 G null P A 274 274 missense 0.0 unknown 0.16 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs758438116 8q12.3 8 63186985 A null P Q 274 274 missense 0.0 unknown 0.17 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1808555147 8q12.3 8 63186984 T null P S 274 274 missense 0.0 unknown 0.08 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1392203257 8q12.3 8 63186987 G null P A 275 275 missense 0.0 unknown 0.2 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs780560299 8q12.3 8 63186988 T null P L 275 275 missense 0.0 unknown 0.24 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs780560299 8q12.3 8 63186988 G null P R 275 275 missense 0.0 unknown 0.09 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1392203257 8q12.3 8 63186987 T null P S 275 275 missense 0.0 unknown 0.15 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1808557103 8q12.3 8 63186994 T null P L 277 277 missense 0.0 unknown 0.14 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs939616143 8q12.3 8 63186993 T null P S 277 277 missense 0.0 unknown 0.16 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs964314471 8q12.3 8 63187000 G null Q R 279 279 missense 0.0 unknown 0.6 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs974503837 8q12.3 8 63187003 C null Q P 280 280 missense 0.0 unknown 0.29 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs781688462 8q12.3 8 63187008 C null G R 282 282 missense 0.0 unknown 0.09 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs772783105 8q12.3 8 63187015 G null Q R 284 284 missense 0.0 unknown 0.41 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1272978886 8q12.3 8 63187024 G null A G 287 287 missense 0.0 unknown 0.58 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1476575863 8q12.3 8 63187023 C null A P 287 287 missense 0.0 unknown 0.83 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1476575863 8q12.3 8 63187023 T null A S 287 287 missense 0.0 unknown 0.62 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1808560183 8q12.3 8 63187026 G null Q E 288 288 missense 0.0 unknown 0.27 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1171224886 8q12.3 8 63187027 C null Q P 288 288 missense 0.0 unknown 0.39 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs774204229 8q12.3 8 63187030 G null P R 289 289 missense 0.0 unknown 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein 1000Genomes,ExAC,TOPMed,gnomAD rs568180760 8q12.3 8 63187029 T null P S 289 289 0.000981162 missense 0.0 unknown 0.05 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1336741967 8q12.3 8 63187035 G null Q E 291 291 missense 0.0 unknown 0.3 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs759461793 8q12.3 8 63187037 C null Q H 291 291 missense 0.0 unknown 0.61 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1563402465 8q12.3 8 63187039 C null V A 292 292 missense 0.0 unknown 0.53 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1808561628 8q12.3 8 63187038 C null V L 292 292 missense 0.0 unknown 0.68 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1563402480 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q12.3 8 63187043 T null Q H 293 293 missense 0.0 unknown 0.42 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC rs760500603 8q12.3 8 63187064 T null Q H 300 300 missense 0.0 unknown 0.15 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1808563171 8q12.3 8 63187062 A null Q K 300 300 missense 0.0 unknown 0.03 deleterious 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs765457330 8q12.3 8 63187067 A null N K 301 301 missense 0.0 unknown 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1272869293 8q12.3 8 63187069 A null R H 302 302 missense 0.0 unknown 0.06 tolerated 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1808564319 8q12.3 8 63187074 C null V L 304 304 missense 0.0 unknown 0.07 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1808564518 8q12.3 8 63187077 C null A P 305 305 missense 0.0 unknown 0.15 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1322639186 8q12.3 8 63187078 T null A V 305 305 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1204215985 8q12.3 8 63187080 G null P A 306 306 missense 0.0 unknown 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs750632736 8q12.3 8 63187083 T null R C 307 307 missense 0.0 unknown 0.0 deleterious 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl,dbSNP,dbSNP rs563216596 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q12.3 8 63187084 A null R H 307 307 missense 0.0 unknown 0.02 deleterious 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs766374326 8q12.3 8 63187089 T null R W 309 309 missense 0.0 unknown 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1808566617 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q12.3 8 63187098 A null G S 312 312 missense 0.0 unknown 0.1 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs751757480 8q12.3 8 63187099 T null G V 312 312 missense 0.0 unknown 0.05 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1808567250 8q12.3 8 63187102 C null F S 313 313 missense 0.0 unknown 0.08 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs755530257 8q12.3 8 63187104 C null N H 314 314 missense 0.0 unknown 0.05 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs781777381 8q12.3 8 63187109 C null Q H 315 315 missense 0.0 unknown 0.16 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1808568442 8q12.3 8 63187111 G null N S 316 316 missense 0.0 unknown 0.43 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ESP,ExAC,TOPMed,gnomAD rs201205275 8q12.3 8 63187114 G null N S 317 317 missense 0.0 unknown 0.83 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1808569229 8q12.3 8 63187116 A null G R 318 318 missense 0.0 unknown 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs756469901 8q12.3 8 63187119 A null A T 319 319 missense 0.0 unknown 0.37 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs777437074 8q12.3 8 63187120 T null A V 319 319 missense 0.0 unknown 0.56 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs770679480 8q12.3 8 63187125 G null S G 321 321 missense 0.0 unknown 0.59 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1287802036 8q12.3 8 63187136 G null F L 324 324 missense 0.0 unknown 0.66 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs773834763 8q12.3 8 63187138 C null G A 325 325 missense 0.0 unknown 0.14 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1383562606 8q12.3 8 63187140 A null L I 326 326 missense 0.0 unknown 0.4 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs771964036 8q12.3 8 63187143 A null G S 327 327 missense 0.0 unknown 0.05 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs763809507 8q12.3 8 63187150 C null V A 329 329 missense 0.0 unknown 0.81 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs763809507 8q12.3 8 63187150 G null V G 329 329 missense 0.0 unknown 0.44 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ESP,ExAC,TOPMed,gnomAD rs375247562 8q12.3 8 63187149 A null V I 329 329 missense 0.0 unknown 0.32 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs773417481 8q12.3 8 63187153 T null P L 330 330 missense 0.0 unknown 0.12 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs765997680 8q12.3 8 63187155 C null V L 331 331 missense 0.0 unknown 0.36 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1808574127 8q12.3 8 63187161 A null A T 333 333 missense 0.0 unknown 0.19 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1208284167 8q12.3 8 63187162 T null A V 333 333 missense 0.0 unknown 0.24 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs766768080 8q12.3 8 63187165 T null S L 334 334 missense 0.0 unknown 0.08 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs751669769 8q12.3 8 63187167 T null P S 335 335 missense 0.0 unknown 0.12 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs751669769 8q12.3 8 63187167 A null P T 335 335 missense 0.0 unknown 0.07 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1250181631 8q12.3 8 63187174 C null S T 337 337 missense 0.0 unknown 0.34 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1808576273 8q12.3 8 63187179 A null E K 339 339 missense 0.0 unknown 0.01 deleterious 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1808576745 8q12.3 8 63187182 A null V M 340 340 missense 0.0 unknown 0.07 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1348702383 8q12.3 8 63187189 G null P R 342 342 missense 0.0 unknown 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ESP,ExAC,TOPMed,gnomAD rs368150163 8q12.3 8 63187191 T null V L 343 343 missense 0.0 unknown 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs368150163 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q12.3 8 63187191 A null V M 343 343 missense 0.0 unknown 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs756447302 8q12.3 8 63187194 A null L M 344 344 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs777992273 8q12.3 8 63187197 A null E K 345 345 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1405286308 8q12.3 8 63187207 G null K R 348 348 missense 0.0 unknown 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs756835273 8q12.3 8 63187209 T null A S 349 349 missense 0.0 unknown 0.6 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1018108836 8q12.3 8 63187214 G null I M 350 350 missense 0.0 unknown 0.11 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1808580281 8q12.3 8 63187212 G null I V 350 350 missense 0.0 unknown 0.76 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1357749375 8q12.3 8 63187215 T null N Y 351 351 missense 0.0 unknown 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs2150374292 8q12.3 8 63187219 G null N S 352 352 missense 0.0 unknown 0.56 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1808581287 8q12.3 8 63187222 G null Y C 353 353 missense 0.0 unknown 0.0 deleterious 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1808581632 8q12.3 8 63187230 G null K E 356 356 missense 0.0 unknown 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1371019684 8q12.3 8 63187234 C null D A 357 357 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1808581974 8q12.3 8 63187233 A null D N 357 357 missense 0.0 unknown 0.04 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs2150374336 8q12.3 8 63187239 A null D N 359 359 missense 0.0 unknown 0.07 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs771592020 8q12.3 8 63187246 G null N S 361 361 missense 0.0 unknown 0.11 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs779908098 8q12.3 8 63187249 C null L P 362 362 missense 0.0 unknown 0.39 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1291282762 8q12.3 8 63187252 G null K R 363 363 missense 0.0 unknown 0.12 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1360480915 8q12.3 8 63187260 T null R C 366 366 missense 0.0 unknown 0.01 deleterious 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1808585967 8q12.3 8 63187284 C null S P 374 374 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1808586749 8q12.3 8 63187292 A null D E 376 376 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs761718898 8q12.3 8 63187296 G null I V 378 378 missense 0.0 unknown 0.09 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC rs771248491 8q12.3 8 63187306 G null S C 381 381 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1181250118 8q12.3 8 63187308 C null I L 382 382 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1181250118 8q12.3 8 63187308 G null I V 382 382 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs767721927 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q12.3 8 63187318 G null S C 385 385 missense 0.0 unknown 0.0 deleterious 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs767721927 8q12.3 8 63187318 T null S F 385 385 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs759642549 8q12.3 8 63187317 A null S T 385 385 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs753185035 8q12.3 8 63187320 G null I V 386 386 missense 0.0 unknown 0.04 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs761069568 8q12.3 8 63187337 C null E D 391 391 missense 0.0 unknown 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1298660867 8q12.3 8 63187348 G null K R 395 395 missense 0.0 unknown 0.06 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein dbSNP,dbSNP,gnomAD rs1375498529 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q12.3 8 63187351 A null R H 396 396 missense 0.0 unknown 0.02 deleterious 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1808591100 8q12.3 8 63187357 T null D V 398 398 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1406842826 8q12.3 8 63187362 A null A T 400 400 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs892773232 8q12.3 8 63187368 T null R C 402 402 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs764707405 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q12.3 8 63187369 A null R H 402 402 missense 0.0 unknown 0.06 tolerated 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs892773232 8q12.3 8 63187368 A null R S 402 402 missense 0.0 unknown 0.0 deleterious 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1808592523 8q12.3 8 63187377 G null N D 405 405 missense 0.0 unknown 0.09 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs757647498 8q12.3 8 63187390 A null P Q 409 409 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs750088240 8q12.3 8 63187392 G null L V 410 410 missense 0.0 unknown 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ESP,ExAC,TOPMed,gnomAD rs367772925 8q12.3 8 63187396 G null Y C 411 411 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1460389250 8q12.3 8 63187401 T null L F 413 413 missense 0.0 unknown 0.22 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs764411560 8q12.3 8 63187402 C null L P 413 413 missense 0.0 unknown 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs746588064 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q12.3 8 63187404 C null F L 414 414 missense 0.0 unknown 0.0 deleterious 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs746588064 8q12.3 8 63187404 G null F V 414 414 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1563403044 8q12.3 8 63187407 G null S G 415 415 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs878945635 8q12.3 8 63187425 T null H Y 421 421 missense 0.0 unknown 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1808595962 8q12.3 8 63187438 C null V A 425 425 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1808596403 8q12.3 8 63187450 G null K R 429 429 missense 0.0 unknown 0.66 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1417013252 8q12.3 8 63187453 G null S C 430 430 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs890870386 8q12.3 8 63187455 C null V L 431 431 missense 0.0 unknown 0.08 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375939861 8q12.3 8 63187458 T null V L 432 432 0.000196232 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1170926529 8q12.3 8 63187461 A null D N 433 433 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs751873623 8q12.3 8 63187465 G null Y C 434 434 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs751873623 8q12.3 8 63187465 C null Y S 434 434 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1808598521 8q12.3 8 63187468 G null N S 435 435 missense 0.0 unknown 0.26 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ESP,ExAC,TOPMed,gnomAD rs372046184 8q12.3 8 63187471 A null A E 436 436 missense 0.0 unknown 0.0 deleterious 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein ESP,ExAC,TOPMed,gnomAD rs372046184 8q12.3 8 63187471 G null A G 436 436 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs372046184 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q12.3 8 63187471 T null A V 436 436 missense 0.0 unknown 0.05 tolerated 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1454690692 8q12.3 8 63187474 G null Y C 437 437 missense 0.0 unknown 0.46 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ESP,ExAC,TOPMed,gnomAD rs369089663 8q12.3 8 63187477 T null A V 438 438 missense 0.0 unknown 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1808600814 8q12.3 8 63187492 G null Q R 443 443 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1361563740 8q12.3 8 63187495 G null D G 444 444 missense 0.0 unknown 0.0 deleterious 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1215472863 8q12.3 8 63187504 G null K R 447 447 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs777214855 8q12.3 8 63187510 G null K R 449 449 missense 0.0 unknown 0.63 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1808602932 8q12.3 8 63187517 C null E D 451 451 missense 0.0 unknown 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs765589874 8q12.3 8 63187516 G null E G 451 451 missense 0.0 unknown 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1808602511 8q12.3 8 63187515 A null E K 451 451 missense 0.0 unknown 0.21 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1026949046 8q12.3 8 63187529 G null I M 455 455 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ESP,TOPMed,gnomAD rs372861604 8q12.3 8 63187531 G null F C 456 456 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1808603536 8q12.3 8 63187530 C null F L 456 456 missense 0.0 unknown 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1264372502 8q12.3 8 63187534 C null V A 457 457 missense 0.0 unknown 0.06 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs766105168 8q12.3 8 63187537 G null K R 458 458 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs766105168 8q12.3 8 63187537 C null K T 458 458 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1239967302 8q12.3 8 63187542 A null V I 460 460 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs751003990 8q12.3 8 63187546 G null P R 461 461 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs780945794 8q12.3 8 63187555 C null Q P 464 464 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1429953895 8q12.3 8 63187569 T null R C 469 469 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,dbSNP,dbSNP rs767444673 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q12.3 8 63187570 A null R H 469 469 missense 0.0 unknown 0.04 deleterious 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs2150374839 8q12.3 8 63187586 A null D E 474 474 missense 0.0 unknown 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1808607945 8q12.3 8 63187585 G null D G 474 474 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1808607768 8q12.3 8 63187584 A null D N 474 474 missense 0.0 unknown 0.0 deleterious 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs772389646 8q12.3 8 63187588 G null N S 475 475 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1290925370 8q12.3 8 63187594 T null P L 477 477 missense 0.0 unknown 0.03 deleterious 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1272771307 8q12.3 8 63187621 T null E V 486 486 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1322236802 8q12.3 8 63187623 A null V I 487 487 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs762303497 8q12.3 8 63187633 G null E G 490 490 missense 0.0 unknown 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs867011657 8q12.3 8 63187638 T null A S 492 492 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1489782307 8q12.3 8 63187663 G null A G 500 500 missense 0.0 unknown 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs765792093 8q12.3 8 63187662 T null A S 500 500 missense 0.0 unknown 0.16 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1198456744 8q12.3 8 63187665 G null T A 501 501 missense 0.0 unknown 0.1 tolerated 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1269450252 8q12.3 8 63187666 G null T S 501 501 missense 0.0 unknown 0.79 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1808613636 8q12.3 8 63187670 G null F L 502 502 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1156822759 8q12.3 8 63187669 A null F Y 502 502 missense 0.0 unknown 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1808614021 8q12.3 8 63187675 T null H L 504 504 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1808613814 8q12.3 8 63187674 T null H Y 504 504 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1043923299 8q12.3 8 63187678 G null T S 505 505 missense 0.0 unknown 0.16 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1407343819 8q12.3 8 63187686 G null I V 508 508 missense 0.0 unknown 0.0 deleterious 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1161527430 8q12.3 8 63187692 C null D H 510 510 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1161527430 8q12.3 8 63187692 A null D N 510 510 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1808615771 8q12.3 8 63187716 T null R C 518 518 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1404680481 8q12.3 8 63187717 A null R H 518 518 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1304158076 8q12.3 8 63187723 G null E G 520 520 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1324764103 8q12.3 8 63187722 A null E K 520 520 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1808617028 8q12.3 8 63187731 A null E K 523 523 missense 0.0 unknown 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1440659752 8q12.3 8 63187738 C null M T 525 525 missense 0.0 unknown 0.15 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs373841599 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q12.3 8 63187740 T null R C 526 526 missense 0.0 unknown 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs765910246 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q12.3 8 63187741 A null R H 526 526 missense 0.0 unknown 0.04 deleterious 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,TOPMed,gnomAD rs751249316 8q12.3 8 63187744 A null R K 527 527 missense 0.0 unknown 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1808619429 8q12.3 8 63187745 T null R S 527 527 missense 0.0 unknown 0.07 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed rs1810265127 8q12.3 8 63209684 G null E G 528 528 missense 0.0 unknown 0.05 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs764086442 8q12.3 8 63209686 G null R G 529 529 missense 0.0 unknown 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1728211109 8q12.3 8 63209690 G null N S 530 530 missense 0.0 unknown 0.25 tolerated 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1585795713 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q12.3 8 63209693 T null R I 531 531 missense 0.0 unknown 0.0 deleterious 1 A0A024R7W5 YTHDF3 YTH domain-containing family protein Ensembl rs1554541478 8q12.3 8 63209697 A null N K 532 532 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs202058325 8q12.3 8 63209696 G null N S 532 532 0.000588697 missense 0.0 unknown 0.11 tolerated - low confidence 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs13274195 8q12.3 8 63209700 C null K N 533 533 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein ExAC,gnomAD rs756945996 8q12.3 8 63209705 T null * L 535 535 stop lost 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein gnomAD rs1437102436 8q12.3 8 63209704 C null * Q 535 535 stop lost 0 A0A024R7W5 YTHDF3 YTH domain-containing family protein TOPMed,gnomAD rs1192838384 8q12.3 8 63209704_63209706 l null * del 535 535 stop lost 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1166024852 9q34.13 9 132986682 A null P T 2 2 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1472210411 9q34.13 9 132986685 T null R C 3 3 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1849075174 9q34.13 9 132986686 A null R H 3 3 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1849076240 9q34.13 9 132986704 A null S N 9 9 missense 0.739 possibly damaging 0.2 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs528249677 9q34.13 9 132986705 A null S R 9 9 0.000196232 missense 0.989 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1431101028 9q34.13 9 132986712 T null A S 12 12 missense 0.341 benign 0.08 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1431101028 9q34.13 9 132986712 A null A T 12 12 missense 0.558 possibly damaging 0.07 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1009956222 9q34.13 9 132986715 T null H Y 13 13 missense 0.914 probably damaging 0.08 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1564177115 9q34.13 9 132986719 T null T I 14 14 missense 0.819 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1564177115 9q34.13 9 132986719 A null T N 14 14 missense 0.484 possibly damaging 0.06 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1481886997 9q34.13 9 132986718 T null T S 14 14 missense 0.015 benign 1.0 tolerated 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1021775815 9q34.13 9 132986726 G null H Q 16 16 missense 0.956 probably damaging 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1849077782 9q34.13 9 132986724 T null H Y 16 16 missense 0.978 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1361526628 9q34.13 9 132986731 T null P L 18 18 missense 0.907 possibly damaging 0.04 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1292353837 9q34.13 9 132986730 T null P S 18 18 missense 0.907 possibly damaging 0.04 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs753257069 9q34.13 9 132986733 T null R C 19 19 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs143455917 9q34.13 9 132986734 A null R H 19 19 missense 0.994 probably damaging 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs143455917 9q34.13 9 132986734 C null R P 19 19 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl,dbSNP rs2132640958 9q34.13 9 132986737 A null V E 20 20 missense 0.049 benign 0.26 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs776935786 9q34.13 9 132986742 A null E K 22 22 missense 0.242 benign 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1370237253 9q34.13 9 132986746 G null D G 23 23 missense 0.047 benign 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs544599977 [ClinVar]: GFI1B-related disorder 9q34.13 9 132986745 A null D N 23 23 missense 0.687 possibly damaging 0.02 deleterious 0 GFI1B-related disorder ClinVar:RCV003913163 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,gnomAD rs556644999 9q34.13 9 132986748 T null E * 24 24 stop gained 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs775541235 9q34.13 9 132986749 G null E G 24 24 missense 0.001 benign 0.29 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,gnomAD rs556644999 9q34.13 9 132986748 A null E K 24 24 missense 0.079 benign 0.16 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs764276098 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132986752 T null P L 25 25 missense 0.003 benign 0.37 tolerated 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs764276098 9q34.13 9 132986752 A null P Q 25 25 missense 0.294 benign 0.11 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,dbSNP,dbSNP rs938560000 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132986751 T null P S 25 25 missense 0.02 benign 0.21 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1849082098 9q34.13 9 132986760 T null P S 28 28 missense 0.003 benign 0.47 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs1143162 9q34.13 9 132986764 A null P H 29 29 missense 0.017 benign 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs1143162 9q34.13 9 132986764 T null P L 29 29 missense 0.001 benign 0.11 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1402824889 9q34.13 9 132986763 T null P S 29 29 missense 0.012 benign 0.09 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs778609270 9q34.13 9 132986769 T null L F 31 31 missense 0.154 benign 0.16 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1446582350 9q34.13 9 132986773 T null T I 32 32 missense 0.001 benign 0.11 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1446582350 9q34.13 9 132986773 A null T N 32 32 missense 0.073 benign 0.16 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1564177246 9q34.13 9 132986772 C null T P 32 32 missense 0.001 benign 0.14 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1446582350 9q34.13 9 132986773 G null T S 32 32 missense 0.001 benign 1.0 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1564177246 9q34.13 9 132986772 T null T S 32 32 missense 0.001 benign 1.0 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs568826386 9q34.13 9 132986776 T null P L 33 33 0.000196232 missense 0.003 benign 0.1 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs114955344 9q34.13 9 132986778 A null V M 34 34 0.00647567 missense 0.467 possibly damaging 0.13 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1344576755 9q34.13 9 132987285 A null P H 35 35 missense 0.347 benign 0.15 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1588438405 9q34.13 9 132987284 T null P S 35 35 missense 0.003 benign 0.21 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs975575009 9q34.13 9 132987287 G null R G 36 36 missense 0.001 benign 0.5 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1849106016 9q34.13 9 132987290 A null D N 37 37 missense 0.003 benign 0.14 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1316317138 9q34.13 9 132987297 G null A G 39 39 missense 0.001 benign 0.43 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs377661083 9q34.13 9 132987299 T null P S 40 40 missense 0.003 benign 0.68 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1849106990 9q34.13 9 132987302 G null S G 41 41 missense 0.006 benign 0.3 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1849107148 9q34.13 9 132987303 A null S N 41 41 missense 0.214 benign 0.16 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs2132642466 9q34.13 9 132987308 G null S G 43 43 missense 0.0 benign 0.25 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1588438461 9q34.13 9 132987311 A null P T 44 44 missense 0.01 benign 0.06 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1647679833 9q34.13 9 132987314 A null V I 45 45 missense 0.003 benign 0.46 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs776592642 9q34.13 9 132987318 G null L R 46 46 missense 0.161 benign 0.19 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1443015063 9q34.13 9 132987321 A null S N 47 47 missense 0.006 benign 0.27 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs370708708 9q34.13 9 132987322 G null S R 47 47 missense 0.115 benign 0.24 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1202082073 9q34.13 9 132987323 T null T S 48 48 missense 0.003 benign 0.6 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs947590696 9q34.13 9 132987326 G null L V 49 49 missense 0.122 benign 0.38 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs139685732 [ClinVar]: GFI1B-related disorder 9q34.13 9 132987329 C null F L 50 50 0.00196232 missense 0.001 benign 0.81 tolerated 0 GFI1B-related disorder ClinVar:RCV003923322 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1849108681 9q34.13 9 132987333 T null P L 51 51 missense 0.018 benign 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1373207619 9q34.13 9 132987335 T null N Y 52 52 missense 0.34 benign 0.04 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs545885234 9q34.13 9 132987347 T null D Y 56 56 0.000196232 missense 0.231 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs934326404 9q34.13 9 132987352 C null W C 57 57 missense 0.014 benign 0.24 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1364914633 9q34.13 9 132987350 C null W R 57 57 missense 0.161 benign 0.37 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs202104252 9q34.13 9 132987354 T null T I 58 58 0.000392465 missense 0.007 benign 0.24 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs202104252 9q34.13 9 132987354 A null T N 58 58 0.000392465 missense 0.001 benign 0.65 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149810016 9q34.13 9 132987359 T null L F 60 60 0.00706436 missense 0.006 benign 0.45 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs149810016 9q34.13 9 132987359 A null L I 60 60 0.00706436 missense 0.003 benign 0.26 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1381935874 9q34.13 9 132987360 C null L P 60 60 missense 0.003 benign 0.2 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,dbSNP,dbSNP,gnomAD rs1296372718 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 9q34.13 9 132987365 T null R * 62 62 missense 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs749864797 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132987366 A null R Q 62 62 missense 0.003 benign 0.6 tolerated 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs755483011 9q34.13 9 132987372 T null P L 64 64 missense 0.007 benign 0.03 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs755483011 9q34.13 9 132987372 G null P R 64 64 missense 0.003 benign 0.07 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1360853713 9q34.13 9 132987375 G null E G 65 65 missense 0.001 benign 0.19 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs373691272 9q34.13 9 132987381 G null E G 67 67 missense 0.003 benign 0.26 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs748212888 9q34.13 9 132987380 C null E Q 67 67 missense 0.007 benign 0.25 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs778075619 9q34.13 9 132987390 G null Q R 70 70 missense 0.001 benign 0.44 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1198382316 9q34.13 9 132987394 A null N K 71 71 missense 0.0 benign 0.18 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs745670907 9q34.13 9 132987396 C null L S 72 72 missense 0.007 benign 0.07 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs769769380 9q34.13 9 132987398 T null A S 73 73 missense 0.001 benign 1.0 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1429729062 9q34.13 9 132987401 G null R G 74 74 missense 0.0 benign 0.07 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1429729062 9q34.13 9 132987401 T null R W 74 74 missense 0.594 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs775420059 9q34.13 9 132987404 C null M L 75 75 missense 0.0 benign 0.43 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1384514886 9q34.13 9 132987405 G null M R 75 75 missense 0.001 benign 0.48 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1849112420 9q34.13 9 132987407 A null A T 76 76 missense 0.001 benign 0.17 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs368601873 9q34.13 9 132987411 T null P L 77 77 missense 0.0 benign 0.3 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs368601873 9q34.13 9 132987411 G null P R 77 77 missense 0.007 benign 0.09 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs2132642791 9q34.13 9 132987416 G null P A 79 79 missense 0.003 benign 0.07 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1022720842 9q34.13 9 132987419 A null E K 80 80 missense 0.079 benign 0.15 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs115534814 9q34.13 9 132988200 T null G V 81 81 0.00451334 missense 0.031 benign 0.2 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs760373604 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132988202 T null P S 82 82 missense 0.001 benign 0.25 tolerated 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs760373604 9q34.13 9 132988202 A null P T 82 82 missense 0.001 benign 0.04 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1849149612 9q34.13 9 132988212 C null L P 85 85 missense 0.001 benign 0.24 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1849150110 9q34.13 9 132988215 T null S F 86 86 missense 0.484 possibly damaging 0.42 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs765677480 9q34.13 9 132988214 A null S T 86 86 missense 0.011 benign 0.49 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1220919198 9q34.13 9 132988217 T null R * 87 87 stop gained 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs200908551 9q34.13 9 132988218 T null R L 87 87 missense 0.0 benign 0.14 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs200908551 9q34.13 9 132988218 C null R P 87 87 missense 0.175 benign 0.16 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs200908551 9q34.13 9 132988218 A null R Q 87 87 missense 0.003 benign 0.49 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1263195120 9q34.13 9 132988221 G null P R 88 88 missense 0.001 benign 0.05 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1849150675 9q34.13 9 132988220 A null P T 88 88 missense 0.012 benign 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs767778204 9q34.13 9 132988230 A null G E 91 91 missense 0.079 benign 0.4 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,gnomAD rs565772612 9q34.13 9 132988229 A null G R 91 91 missense 0.003 benign 0.49 tolerated 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,dbSNP,gnomAD rs1470967398 9q34.13 9 132988236 T null S F 93 93 missense 0.228 benign 0.08 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs781432577 9q34.13 9 132988245 T null S F 96 96 missense 0.743 possibly damaging 0.11 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145562579 9q34.13 9 132988247 A null D N 97 97 missense 0.003 benign 0.24 tolerated 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143926538 9q34.13 9 132988251 A null S * 98 98 0.000196232 stop gained 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs143926538 9q34.13 9 132988251 T null S L 98 98 0.000196232 missense 0.009 benign 0.67 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs142654869 9q34.13 9 132988257 T null P L 100 100 missense 0.079 benign 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs142654869 9q34.13 9 132988257 A null P Q 100 100 missense 0.012 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs142654869 9q34.13 9 132988257 G null P R 100 100 missense 0.007 benign 0.05 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs771980295 9q34.13 9 132988256 A null P T 100 100 missense 0.003 benign 0.14 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1205060414 9q34.13 9 132988265 C null K Q 103 103 missense 0.049 benign 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs372809223 9q34.13 9 132988268 G null P A 104 104 missense 0.351 benign 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1588440021 9q34.13 9 132988271 G null S G 105 105 missense 0.009 benign 0.14 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs759097390 9q34.13 9 132988272 C null S T 105 105 missense 0.026 benign 0.15 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1481562524 9q34.13 9 132988283 A null D N 109 109 missense 0.476 possibly damaging 0.07 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1481562524 9q34.13 9 132988283 T null D Y 109 109 missense 0.039 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1588440053 9q34.13 9 132988286 C null T P 110 110 missense 0.001 benign 0.38 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs763603738 9q34.13 9 132988289 G null L V 111 111 missense 0.018 benign 0.25 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1168624885 9q34.13 9 132988293 A null A D 112 112 missense 0.108 benign 0.18 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs764644794 9q34.13 9 132988296 T null T I 113 113 missense 0.049 benign 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1849154852 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132988298 G null T A 114 114 missense 0.001 benign 0.22 tolerated 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1047946772 9q34.13 9 132988299 T null T I 114 114 missense 0.073 benign 0.11 tolerated 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1047946772 9q34.13 9 132988299 G null T S 114 114 missense 0.003 benign 1.0 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1849155210 9q34.13 9 132988302 G null Y C 115 115 missense 0.966 probably damaging 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1204188537 9q34.13 9 132988304 A null G S 116 116 missense 0.01 benign 0.4 tolerated 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs997110481 9q34.13 9 132988309 A null H Q 117 117 missense 0.007 benign 0.21 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1479272040 9q34.13 9 132988315 A null Y * 119 119 stop gained 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs533662277 9q34.13 9 132988316 G null R G 120 120 0.000196232 missense 0.001 benign 0.11 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1304184399 9q34.13 9 132988317 A null R Q 120 120 missense 0.007 benign 0.17 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs533662277 9q34.13 9 132988316 T null R W 120 120 0.000196232 missense 0.707 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs750711297 9q34.13 9 132988319 T null Q * 121 121 stop gained 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs77329269 9q34.13 9 132988323 G null A G 122 122 missense 0.005 benign 0.39 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs77329269 9q34.13 9 132988323 T null A V 122 122 missense 0.015 benign 0.53 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1317829813 9q34.13 9 132988325 T null P S 123 123 missense 0.011 benign 0.28 tolerated 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1317829813 9q34.13 9 132988325 A null P T 123 123 missense 0.006 benign 0.07 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs778821265 9q34.13 9 132988328 C null S P 124 124 missense 0.044 benign 0.04 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs758366716 9q34.13 9 132988331 C null T P 125 125 missense 0.789 possibly damaging 0.11 tolerated 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1849157415 9q34.13 9 132988335 A null M K 126 126 missense 0.102 benign 0.04 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1274965157 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132988334 T null M L 126 126 missense 0.0 benign 0.35 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1849157415 9q34.13 9 132988335 C null M T 126 126 missense 0.102 benign 0.1 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1274965157 9q34.13 9 132988334 G null M V 126 126 missense 0.001 benign 0.2 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1357251258 9q34.13 9 132988343 A null A T 129 129 missense 0.066 benign 0.32 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1396268669 9q34.13 9 132988347 G null F C 130 130 missense 0.04 benign 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC rs770534417 9q34.13 9 132988350 C null L P 131 131 missense 0.117 benign 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC rs776000235 9q34.13 9 132988356 C null H P 133 133 missense 0.03 benign 0.12 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs775944163 9q34.13 9 132988362 C null V A 135 135 missense 0.04 benign 0.24 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs372949898 9q34.13 9 132988361 T null V F 135 135 missense 0.022 benign 0.2 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs372949898 9q34.13 9 132988361 A null V I 135 135 missense 0.022 benign 0.2 tolerated 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1849159090 9q34.13 9 132988365 T null S I 136 136 missense 0.196 benign 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1849159195 9q34.13 9 132988366 A null S R 136 136 missense 0.005 benign 0.31 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1475760647 9q34.13 9 132988367 A null L M 137 137 missense 0.841 possibly damaging 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140090505 9q34.13 9 132988373 T null G C 139 139 0.000588697 missense 0.487 possibly damaging 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140090505 9q34.13 9 132988373 C null G R 139 139 0.000588697 missense 0.234 benign 0.04 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140090505 9q34.13 9 132988373 A null G S 139 139 0.000588697 missense 0.09 benign 0.2 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1049709369 9q34.13 9 132988376 T null S C 140 140 missense 0.223 benign 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs767699735 9q34.13 9 132988379 T null P S 141 141 missense 0.113 benign 0.22 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs750451502 9q34.13 9 132988385 A null V M 143 143 missense 0.184 benign 0.15 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs756385747 9q34.13 9 132988391 G null S G 145 145 missense 0.015 benign 0.15 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1418256970 9q34.13 9 132988395 A null T N 146 146 missense 0.031 benign 0.17 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1315739296 9q34.13 9 132988401 T null P L 148 148 missense 0.052 benign 0.08 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1430790946 9q34.13 9 132988403 C null A P 149 149 missense 0.003 benign 1.0 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,dbSNP,dbSNP,gnomAD rs1430790946 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132988403 A null A T 149 149 missense 0.009 benign 0.03 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,dbSNP,gnomAD rs368905369 9q34.13 9 132988413 A null F Y 152 152 missense 0.001 benign 0.76 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs150284911 9q34.13 9 132988418 G null L V 154 154 missense 0.043 benign 0.17 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs78837507 9q34.13 9 132988421 T null R C 155 155 missense 0.009 benign 0.05 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs560461496 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132988422 A null R H 155 155 0.0002 missense 0.0 benign 0.87 tolerated 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs560461496 9q34.13 9 132988422 T null R L 155 155 missense 0.0 benign 0.2 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs78837507 9q34.13 9 132988421 A null R S 155 155 missense 0.001 benign 0.27 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1849162101 9q34.13 9 132988425 G null Y C 156 156 missense 0.003 benign 0.06 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs745314098 9q34.13 9 132988427 C null S P 157 157 missense 0.009 benign 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs951366034 9q34.13 9 132988430 G null P A 158 158 missense 0.015 benign 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs951366034 9q34.13 9 132988430 T null P S 158 158 missense 0.015 benign 0.17 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1414620986 9q34.13 9 132988434 A null G D 159 159 missense 0.02 benign 0.34 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1588440461 9q34.13 9 132988433 A null G S 159 159 missense 0.014 benign 0.4 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1849162698 9q34.13 9 132988437 C null M T 160 160 missense 0.015 benign 0.45 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1376447537 9q34.13 9 132988436 G null M V 160 160 missense 0.009 benign 0.28 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1849162800 9q34.13 9 132988439 A null D N 161 161 missense 0.021 benign 0.46 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1849163012 9q34.13 9 132988442 A null A T 162 162 missense 0.0 benign 1.0 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,dbSNP,gnomAD rs769515561 [ClinVar]: Inborn genetic diseases 9q34.13 9 132988443 T null A V 162 162 missense 0.0 benign 0.03 deleterious 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV004047542 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs779785796 9q34.13 9 132988449 G null H R 164 164 missense 0.0 benign 0.07 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1241436394 9q34.13 9 132988452 A null C Y 165 165 missense 0.959 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs754085243 9q34.13 9 132988457 G null K E 167 167 missense 0.003 benign 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs754085243 9q34.13 9 132988457 C null K Q 167 167 missense 0.001 benign 0.07 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1184678414 9q34.13 9 132988458 G null K R 167 167 missense 0.005 benign 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs527297896 [ClinVar]: Platelet-type bleeding disorder 17 9q34.13 9 132988461 T null C F 168 168 0.000981162 missense 0.969 probably damaging 0.0 deleterious 0 Platelet-type bleeding disorder 17 (BDPLT17) MIM:187900 ClinVar:RCV002264884 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs527297896 9q34.13 9 132988461 A null C Y 168 168 0.000981162 missense 0.798 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1468878225 9q34.13 9 132988467 T null K M 170 170 missense 0.854 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1468878225 9q34.13 9 132988467 G null K R 170 170 missense 0.439 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1027855830 9q34.13 9 132989062 C null V A 171 171 missense 0.013 benign 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142421593 9q34.13 9 132989061 T null V F 171 171 0.000392465 missense 0.154 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142421593 9q34.13 9 132989061 A null V I 171 171 0.000392465 missense 0.068 benign 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1195749893 9q34.13 9 132989064 C null F L 172 172 missense 0.854 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs762304847 9q34.13 9 132989070 G null T A 174 174 missense 0.779 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,dbSNP,gnomAD rs376762177 [ClinVar]: Platelet-type bleeding disorder 17 9q34.13 9 132989071 T null T I 174 174 missense 0.98 probably damaging 0.0 deleterious 0 Platelet-type bleeding disorder 17 (BDPLT17) MIM:187900 ClinVar:RCV002245418 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,dbSNP,gnomAD rs376762177 9q34.13 9 132989071 A null T N 174 174 missense 0.76 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146007027 9q34.13 9 132989074 A null P H 175 175 0.000196232 missense 0.417 benign 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146007027 9q34.13 9 132989074 T null P L 175 175 0.000196232 missense 0.297 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs138653823 9q34.13 9 132989078 G null H Q 176 176 missense 0.983 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1849188410 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132989076 T null H Y 176 176 missense 0.503 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1005136553 9q34.13 9 132989079 A null G R 177 177 missense 0.928 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1345110952 9q34.13 9 132989085 A null E K 179 179 missense 0.91 probably damaging 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1405838680 9q34.13 9 132989088 T null V L 180 180 missense 0.047 benign 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs973515605 9q34.13 9 132989092 T null H L 181 181 missense 0.068 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1849189521 9q34.13 9 132989093 A null H Q 181 181 missense 0.019 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs973515605 9q34.13 9 132989092 G null H R 181 181 missense 0.025 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1397252914 9q34.13 9 132989095 G null V G 182 182 missense 0.001 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1849189642 9q34.13 9 132989094 A null V M 182 182 missense 0.015 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs778195914 9q34.13 9 132989097 T null R * 183 183 missense 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs148728985 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132989098 A null R Q 183 183 0.0002 missense 0.151 benign 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,dbSNP,gnomAD rs771408008 [ClinVar]: Platelet-type bleeding disorder 17 9q34.13 9 132989100 T null R C 184 184 missense 0.995 probably damaging 0.0 deleterious 1 Platelet-type bleeding disorder 17 (BDPLT17) MIM:187900 ClinVar:RCV001353362 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs771408008 9q34.13 9 132989100 G null R G 184 184 missense 0.508 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs570058270 [ClinVar]: GFI1B-related disorder, [ClinVar]: Platelet-type bleeding disorder 17 9q34.13 9 132989101 A null R H 184 184 0.000588697 missense 0.782 possibly damaging 0.0 deleterious 0 GFI1B-related disorder ClinVar:RCV003418417 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs570058270 [ClinVar]: GFI1B-related disorder, [ClinVar]: Platelet-type bleeding disorder 17 9q34.13 9 132989101 A null R H 184 184 0.000588697 missense 0.782 possibly damaging 0.0 deleterious 0 Platelet-type bleeding disorder 17 (BDPLT17) MIM:187900 ClinVar:RCV002245457 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs570058270 [ClinVar]: Platelet-type bleeding disorder 17 9q34.13 9 132989101 C null R P 184 184 0.000588697 missense 0.704 possibly damaging 0.0 deleterious 0 Platelet-type bleeding disorder 17 (BDPLT17) MIM:187900 ClinVar:RCV002245460 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs748303990 9q34.13 9 132989107 G null H R 186 186 missense 0.931 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1269061411 9q34.13 9 132989109 G null S G 187 187 missense 0.841 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1181677415 9q34.13 9 132989116 T null T I 189 189 missense 0.107 benign 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs192854759 9q34.13 9 132989119 A null R Q 190 190 missense 0.309 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs144046935 [ClinVar]: Platelet-type bleeding disorder 17 9q34.13 9 132989118 T null R W 190 190 0.000392465 missense 0.986 probably damaging 0.0 deleterious 0 Platelet-type bleeding disorder 17 (BDPLT17) MIM:187900 ClinVar:RCV000477857 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1849191657 9q34.13 9 132989121 G null P A 191 191 missense 0.651 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs766382842 9q34.13 9 132989127 T null A S 193 193 missense 0.026 benign 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs766382842 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132989127 A null A T 193 193 missense 0.009 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1364664092 9q34.13 9 132989130 C null C R 194 194 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,dbSNP,gnomAD rs753406078 [ClinVar]: Platelet-type bleeding disorder 17 9q34.13 9 132989131 A null C Y 194 194 missense 0.982 probably damaging 0.0 deleterious 0 Platelet-type bleeding disorder 17 (BDPLT17) MIM:187900 ClinVar:RCV002245659 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs754483976 9q34.13 9 132989136 T null I F 196 196 missense 0.093 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs754483976 9q34.13 9 132989136 G null I V 196 196 missense 0.0 benign 0.59 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,gnomAD rs146440020 9q34.13 9 132989143 A null G D 198 198 0.000196232 missense 0.271 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs370269669 9q34.13 9 132989142 C null G R 198 198 missense 0.361 benign 0.25 tolerated 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs370269669 9q34.13 9 132989142 A null G S 198 198 missense 0.537 possibly damaging 0.02 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1367971464 9q34.13 9 132989149 A null T N 200 200 missense 0.136 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145418687 9q34.13 9 132989153 G null F L 201 201 missense 0.96 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs781610790 9q34.13 9 132989154 T null G C 202 202 missense 0.961 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs781610790 9q34.13 9 132989154 C null G R 202 202 missense 0.743 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs781610790 9q34.13 9 132989154 A null G S 202 202 missense 0.632 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs147726410 9q34.13 9 132989159 G null H Q 203 203 missense 0.028 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs62638686 9q34.13 9 132989160 T null A S 204 204 missense 0.001 benign 0.13 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs62638686 9q34.13 9 132989160 A null A T 204 204 missense 0.01 benign 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs768898305 9q34.13 9 132989164 C null V A 205 205 missense 0.013 benign 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs2132647461 9q34.13 9 132989169 A null L M 207 207 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1450806158 9q34.13 9 132989175 A null Q K 209 209 missense 0.042 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs776772049 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132989182 T null T M 211 211 missense 0.003 benign 0.27 tolerated 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1383225691 9q34.13 9 132989181 T null T S 211 211 missense 0.009 benign 0.16 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145867669 9q34.13 9 132989187 A null V I 213 213 missense 0.0 benign 0.29 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs763764108 9q34.13 9 132989192 A null H Q 214 214 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148996720 9q34.13 9 132989190 T null H Y 214 214 0.000588697 missense 0.958 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,TOPMed,gnomAD rs373796028 9q34.13 9 132989198 C null Q H 216 216 missense 0.932 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1849215158 9q34.13 9 132989677 T null G V 217 217 missense 0.918 probably damaging 0.29 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,TOPMed,gnomAD rs578136625 9q34.13 9 132989683 T null P L 219 219 0.000196232 missense 0.0 benign 0.32 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1849215818 9q34.13 9 132989686 A null A D 220 220 missense 0.133 benign 0.04 deleterious - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs900680337 9q34.13 9 132989685 C null A P 220 220 missense 0.175 benign 0.17 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs900680337 9q34.13 9 132989685 A null A T 220 220 missense 0.0 benign 0.2 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,TOPMed,gnomAD rs545245507 9q34.13 9 132989688 A null G R 221 221 missense 0.003 benign 0.42 tolerated - low confidence 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1849216304 9q34.13 9 132989697 A null P T 224 224 missense 0.671 possibly damaging 0.07 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs367558713 9q34.13 9 132989702 C null E D 225 225 missense 0.0 benign 0.47 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1407468572 9q34.13 9 132989700 C null E Q 225 225 missense 0.0 benign 0.69 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1588442465 9q34.13 9 132989707 A null A E 227 227 missense 0.006 benign 0.5 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1588442465 9q34.13 9 132989707 T null A V 227 227 missense 0.006 benign 0.37 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1392363464 9q34.13 9 132989709 G null P A 228 228 missense 0.0 benign 0.67 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1849217068 9q34.13 9 132989710 T null P L 228 228 missense 0.0 benign 0.86 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs906389252 9q34.13 9 132989714 A null D E 229 229 missense 0.005 benign 0.43 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1849217170 9q34.13 9 132989712 A null D N 229 229 missense 0.005 benign 0.37 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs767905800 9q34.13 9 132989716 T null P L 230 230 missense 0.0 benign 0.48 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs761450242 9q34.13 9 132989715 T null P S 230 230 missense 0.0 benign 0.39 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,dbSNP,gnomAD rs761044764 [UniProt]: a colorectal cancer sample; somatic mutation pubmed:16959974 9q34.13 9 132989785 A null R H 231 231 missense 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs771432303 9q34.13 9 132989719 T null P L 231 231 missense 0.319 benign 0.24 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs771432303 9q34.13 9 132989719 G null P R 231 231 missense 0.338 benign 0.02 deleterious - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs750759802 9q34.13 9 132989718 T null P S 231 231 missense 0.071 benign 0.05 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs755145823 9q34.13 9 132989721 A null G R 232 232 missense 0.414 benign 0.01 deleterious - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs748424899 9q34.13 9 132989725 T null P L 233 233 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1264388246 9q34.13 9 132989728 G null H R 234 234 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs952773206 9q34.13 9 132989730 C null F L 235 235 missense 0.0 benign 0.33 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs769624853 9q34.13 9 132989737 T null R L 237 237 missense 0.0 benign 0.42 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs769624853 9q34.13 9 132989737 C null R P 237 237 missense 0.0 benign 0.1 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs769624853 9q34.13 9 132989737 A null R Q 237 237 missense 0.009 benign 0.15 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs759704658 9q34.13 9 132989736 T null R W 237 237 missense 0.178 benign 0.06 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1430002750 9q34.13 9 132989742 A null E K 239 239 missense 0.537 possibly damaging 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,dbSNP,dbSNP,gnomAD rs1016682120 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132989745 T null R C 240 240 missense 0.658 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC rs762784268 9q34.13 9 132989746 A null R H 240 240 missense 0.946 probably damaging 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1016682120 9q34.13 9 132989745 A null R S 240 240 missense 0.382 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs374075090 9q34.13 9 132989753 G null F L 242 242 missense 0.887 possibly damaging 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,gnomAD rs142322678 9q34.13 9 132989754 A null E K 243 243 0.000196232 missense 0.067 benign 0.07 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,gnomAD rs142322678 9q34.13 9 132989754 C null E Q 243 243 0.000196232 missense 0.107 benign 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,TOPMed rs371395428 9q34.13 9 132989757 C null C R 244 244 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,dbSNP,dbSNP,gnomAD rs1462798363 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132989760 T null R C 245 245 missense 0.003 benign 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs367947845 9q34.13 9 132989761 A null R H 245 245 missense 0.0 benign 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs367947845 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132989761 T null R L 245 245 missense 0.0 benign 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs767105897 9q34.13 9 132989763 C null M L 246 246 missense 0.0 benign 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs371084332 9q34.13 9 132989769 C null G R 248 248 missense 0.908 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs371084332 9q34.13 9 132989769 A null G S 248 248 missense 0.74 possibly damaging 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1367615343 9q34.13 9 132989775 C null A P 250 250 missense 0.559 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1849221384 9q34.13 9 132989781 G null K E 252 252 missense 0.621 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,dbSNP,dbSNP rs201349915 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132989784 T null R C 253 253 missense 0.206 benign 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs201349915 9q34.13 9 132989784 A null R S 253 253 missense 0.223 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs754439744 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132989788 T null S L 254 254 missense 0.303 benign 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs754439744 9q34.13 9 132989788 G null S W 254 254 missense 0.765 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1554724654 9q34.13 9 132989794 T null T M 256 256 missense 0.833 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1849222491 9q34.13 9 132989797 C null L P 257 257 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1849222585 9q34.13 9 132989800 A null S Y 258 258 missense 0.629 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs752776987 9q34.13 9 132989802 C null T P 259 259 missense 0.788 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs752776987 9q34.13 9 132989802 T null T S 259 259 missense 0.068 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs986660744 9q34.13 9 132989807 G null H Q 260 260 missense 0.988 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs758726712 9q34.13 9 132989808 G null L V 261 261 missense 0.074 benign 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1849223212 9q34.13 9 132989812 G null L R 262 262 missense 0.03 benign 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a dbSNP rs1564180346 [ClinVar]: Storage pool disease of platelets 9q34.13 9 132989817 l null H null 264 264 frameshift 0 Storage pool disease of platelets MIM:185050 ClinVar:RCV000710041 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1849223661 9q34.13 9 132989820 A null S T 265 265 missense 0.046 benign 0.13 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a dbSNP rs2118905794 [ClinVar]: Platelet-type bleeding disorder 17 9q34.13 9 132989824 l null D null 266 266 frameshift 0 Platelet-type bleeding disorder 17 (BDPLT17) MIM:187900 ClinVar:RCV001818094 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1196364560 9q34.13 9 132989827 T null T M 267 267 missense 0.848 possibly damaging 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1201544876 9q34.13 9 132989830 A null R Q 268 268 missense 0.541 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs745670434 9q34.13 9 132989829 T null R W 268 268 missense 0.992 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs910795219 9q34.13 9 132989833 T null P L 269 269 missense 0.933 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1170867202 9q34.13 9 132989836 C null Y S 270 270 missense 0.992 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1364041454 9q34.13 9 132989842 A null C Y 272 272 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1302101616 9q34.13 9 132989845 C null Q P 273 273 missense 0.015 benign 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1302101616 9q34.13 9 132989845 G null Q R 273 273 missense 0.107 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,dbSNP,dbSNP rs944694471 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132989848 A null F Y 274 274 missense 0.0 benign 1.0 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,dbSNP rs1849225412 [ClinVar]: Inborn genetic diseases, [ClinVar]: Platelet-type bleeding disorder 17 9q34.13 9 132989851 A null C Y 275 275 missense 0.999 probably damaging 0.0 deleterious 1 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV003093966 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,dbSNP rs1849225412 [ClinVar]: Inborn genetic diseases, [ClinVar]: Platelet-type bleeding disorder 17 9q34.13 9 132989851 A null C Y 275 275 missense 0.999 probably damaging 0.0 deleterious 1 Platelet-type bleeding disorder 17 (BDPLT17) MIM:187900 ClinVar:RCV002245456 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs749288375 9q34.13 9 132989854 A null G D 276 276 missense 0.602 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs765446969 9q34.13 9 132989853 A null G S 276 276 missense 0.796 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs768451177 9q34.13 9 132989859 T null R C 278 278 missense 0.138 benign 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs768451177 9q34.13 9 132989859 G null R G 278 278 missense 0.025 benign 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs773869692 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132989860 A null R H 278 278 missense 0.151 benign 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1299732331 9q34.13 9 132989865 A null H N 280 280 missense 0.042 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs866282944 9q34.13 9 132989875 T null S F 283 283 missense 0.829 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl,dbSNP rs1554724691 [ClinVar]: Inborn genetic diseases, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132989877 A null D N 284 284 missense 0.042 benign 0.08 tolerated 1 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV000622939 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1849227326 9q34.13 9 132989884 G null K R 286 286 missense 0.025 benign 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl,dbSNP rs1554724694 [ClinVar]: Platelet-type bleeding disorder 17 pubmed:28041820 9q34.13 9 132989886 T null K * 287 287 stop gained 0 Platelet-type bleeding disorder 17 (BDPLT17) MIM:187900 ClinVar:RCV000505272 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1053415693 9q34.13 9 132989893 T null T I 289 289 missense 0.098 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC rs766810669 9q34.13 9 132989899 C null I T 291 291 missense 0.131 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,gnomAD rs543334869 9q34.13 9 132989898 G null I V 291 291 0.000196232 missense 0.131 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1465414678 9q34.13 9 132989904 T null T S 293 293 missense 0.609 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1849270578 9q34.13 9 132990874 A null E K 295 295 missense 0.853 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs759753475 9q34.13 9 132990878 G null K R 296 296 missense 0.245 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs543214484 9q34.13 9 132990881 T null P L 297 297 0.000196232 missense 0.908 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs2118910702 9q34.13 9 132990880 A null P T 297 297 missense 0.992 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1849271027 9q34.13 9 132990887 G null K R 299 299 missense 0.057 benign 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs763548823 9q34.13 9 132990892 A null Q K 301 301 missense 0.003 benign 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1166124418 9q34.13 9 132990895 C null V L 302 302 missense 0.01 benign 0.09 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs753669252 9q34.13 9 132990902 A null G E 304 304 missense 0.576 possibly damaging 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs762113108 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132990901 C null G R 304 304 missense 0.576 possibly damaging 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs753669252 9q34.13 9 132990902 T null G V 304 304 missense 0.796 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1439794611 9q34.13 9 132990904 C null K Q 305 305 missense 0.53 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1849271888 9q34.13 9 132990905 G null K R 305 305 missense 0.346 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1279137850 9q34.13 9 132990907 T null A S 306 306 missense 0.05 benign 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1197266637 9q34.13 9 132990914 A null S N 308 308 missense 0.037 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl,dbSNP rs587777211 [ClinVar]: Platelet-type bleeding disorder 17 pubmed:24325358,pubmed:5681484 9q34.13 9 132990916 T null Q * 309 309 stop gained 0 Platelet-type bleeding disorder 17 (BDPLT17) MIM:187900 ClinVar:RCV000088664 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1041169993 9q34.13 9 132990918 C null Q H 309 309 missense 0.036 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1230296068 9q34.13 9 132990920 A null S N 310 310 missense 0.011 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs2118910965 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132990921 A null S R 310 310 missense 0.024 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1375064224 9q34.13 9 132990928 T null L F 313 313 missense 0.476 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1849273003 9q34.13 9 132990931 G null I V 314 314 missense 0.01 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs74332772 9q34.13 9 132990934 C null T P 315 315 missense 0.007 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a dbSNP rs397989794 [ClinVar]: Platelet-type bleeding disorder 17 pubmed:1065298,pubmed:23927492 9q34.13 9 132990937 p null H null 316 316 frameshift 0 Platelet-type bleeding disorder 17 (BDPLT17) MIM:187900 ClinVar:RCV000088665 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1225851256 9q34.13 9 132990940 G null S G 317 317 missense 0.328 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,dbSNP,dbSNP,gnomAD rs990886827 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132990943 T null R C 318 318 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs537470322 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132990944 A null R H 318 318 missense 0.858 possibly damaging 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs537470322 9q34.13 9 132990944 T null R L 318 318 missense 0.724 possibly damaging 0.04 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs770622297 9q34.13 9 132990947 T null K M 319 319 missense 0.278 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs770622297 9q34.13 9 132990947 G null K R 319 319 missense 0.098 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1849274768 9q34.13 9 132990953 T null T I 321 321 missense 0.868 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1309426757 9q34.13 9 132990956 A null G D 322 322 missense 0.933 probably damaging 0.04 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs2118911253 9q34.13 9 132990968 G null F C 326 326 missense 0.781 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1426521584 9q34.13 9 132990967 G null F V 326 326 missense 0.973 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1390492908 9q34.13 9 132990974 A null C Y 328 328 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,dbSNP,gnomAD rs775963992 [ClinVar]: Platelet-type bleeding disorder 17 pubmed:28041820 9q34.13 9 132990980 C null L P 330 330 missense 0.625 possibly damaging 0.0 deleterious 0 Platelet-type bleeding disorder 17 (BDPLT17) MIM:187900 ClinVar:RCV000505268 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs775963992 9q34.13 9 132990980 A null L Q 330 330 missense 0.013 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs769236543 9q34.13 9 132990986 G null T S 332 332 missense 0.0 benign 0.37 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1307228755 9q34.13 9 132990991 A null G S 334 334 missense 0.067 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs774517040 9q34.13 9 132991000 T null R C 337 337 missense 0.145 benign 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs761729738 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132991001 A null R H 337 337 missense 0.105 benign 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1849276030 9q34.13 9 132991004 C null K T 338 338 missense 0.223 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs955174616 9q34.13 9 132991009 C null D H 340 340 missense 0.105 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs760858233 9q34.13 9 132991016 A null R Q 342 342 missense 0.042 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs750680851 9q34.13 9 132991015 T null R W 342 342 missense 0.269 benign 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs369095339 9q34.13 9 132991019 T null R L 343 343 missense 0.15 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs369095339 9q34.13 9 132991019 A null R Q 343 343 missense 0.105 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs765068455 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132991018 T null R W 343 343 missense 0.89 possibly damaging 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs751095810 9q34.13 9 132991023 G null H Q 344 344 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs777505501 9q34.13 9 132991021 T null H Y 344 344 missense 0.982 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs756778026 9q34.13 9 132991024 T null R C 345 345 missense 0.286 benign 0.01 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373040348 9q34.13 9 132991025 A null R H 345 345 missense 0.058 benign 0.43 tolerated 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373040348 9q34.13 9 132991025 T null R L 345 345 missense 0.027 benign 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1849277512 9q34.13 9 132991027 A null E K 346 346 missense 0.299 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1281439058 9q34.13 9 132991030 G null S G 347 347 missense 0.254 benign 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1231376875 9q34.13 9 132991031 A null S N 347 347 missense 0.232 benign 0.06 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,TOPMed,dbSNP,gnomAD rs147973999 [ClinVar]: Platelet-type bleeding disorder 17 9q34.13 9 132991038 G null H Q 349 349 missense 0.756 possibly damaging 0.0 deleterious 0 Platelet-type bleeding disorder 17 (BDPLT17) MIM:187900 ClinVar:RCV002223110 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1474417793 9q34.13 9 132991047 C null K N 352 352 missense 0.984 probably damaging 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1849278456 9q34.13 9 132991045 C null K Q 352 352 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs769206886 9q34.13 9 132991050 C null * C 353 353 stop lost 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs749626626 9q34.13 9 132991049 T null * L 353 353 stop lost 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs769206886 9q34.13 9 132991050 G null * W 353 353 stop lost 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1473673889 7p14.2 7 35832894 A null V I 2 2 missense 0.129 benign 0.01 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1192771815 7p14.2 7 35863557 G null S A 6 6 missense 0.251 benign 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1192771815 7p14.2 7 35863557 A null S T 6 6 missense 0.447 possibly damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1463663878 7p14.2 7 35863573 T null S L 11 11 missense 0.36 benign 0.03 deleterious - low confidence 1 A0A024RA87 SEPTIN7 Septin Ensembl rs1785633003 7p14.2 7 35863587 A null S T 16 16 missense 0.158 benign 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1785633380 7p14.2 7 35863590 G null L V 17 17 missense 0.652 possibly damaging 0.01 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs11538079 7p14.2 7 35863595 A null F L 18 18 missense 0.2 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs771335352 7p14.2 7 35863594 C null F S 18 18 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs781724703 7p14.2 7 35863602 A null D N 21 21 missense 0.85 possibly damaging 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs770217624 7p14.2 7 35863612 T null S F 24 24 missense 0.883 possibly damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199739906 7p14.2 7 35863614 G null P A 25 25 0.000196232 missense 0.003 benign 0.15 tolerated - low confidence 0 A0A024RA87 SEPTIN7 Septin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199739906 7p14.2 7 35863614 T null P S 25 25 0.000196232 missense 0.007 benign 0.16 tolerated - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1277088816 7p14.2 7 35863623 G null P A 28 28 missense 0.849 possibly damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1274885676 7p14.2 7 35863626 C null G R 29 29 missense 0.968 probably damaging 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs781188337 7p14.2 7 35863653 T null V L 38 38 missense 0.031 benign 0.04 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1562558306 7p14.2 7 35863657 G null Q R 39 39 missense 0.007 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1786222891 7p14.2 7 35872672 T null Q * 42 42 stop gained 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1450561631 7p14.2 7 35872675 G null S A 43 43 missense 0.696 possibly damaging 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs749730840 7p14.2 7 35872679 G null K R 44 44 missense 0.035 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1367066878 7p14.2 7 35872684 G null L V 46 46 missense 0.04 benign 0.03 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1194061662 7p14.2 7 35872688 C null I T 47 47 missense 0.834 possibly damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1786223819 7p14.2 7 35872691 G null K R 48 48 missense 0.295 benign 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1459162293 7p14.2 7 35872700 T null G V 51 51 missense 0.972 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs774639891 7p14.2 7 35872703 G null V G 52 52 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs768999171 7p14.2 7 35872702 A null V I 52 52 missense 0.572 possibly damaging 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1375285739 7p14.2 7 35872705 G null Q E 53 53 missense 0.261 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs574634510 7p14.2 7 35872710 C null L F 54 54 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1172338843 7p14.2 7 35872717 G null T A 57 57 missense 0.686 possibly damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1389328836 7p14.2 7 35872720 G null I V 58 58 missense 0.038 benign 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1451763008 7p14.2 7 35872723 A null V I 59 59 missense 0.23 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs761746094 7p14.2 7 35872730 A null T N 61 61 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1288193560 7p14.2 7 35872739 C null F S 64 64 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1211962114 7p14.2 7 35872745 G null D G 66 66 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1786227344 7p14.2 7 35872753 C null D H 69 69 missense 0.989 probably damaging 0.01 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1284983147 7p14.2 7 35872764 G null N K 72 72 missense 0.097 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1786228596 7p14.2 7 35872766 T null C F 73 73 missense 0.984 probably damaging 0.01 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1428910812 7p14.2 7 35873642 G null W G 74 74 missense 0.376 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1786296056 7p14.2 7 35873651 A null V I 77 77 missense 0.038 benign 0.1 tolerated - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs765111999 7p14.2 7 35873656 G null I M 78 78 missense 0.988 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1786296402 7p14.2 7 35873655 A null I N 78 78 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1786296402 7p14.2 7 35873655 C null I T 78 78 missense 0.83 possibly damaging 0.11 tolerated - low confidence 1 A0A024RA87 SEPTIN7 Septin Ensembl rs1786296230 7p14.2 7 35873654 G null I V 78 78 missense 0.045 benign 0.01 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs775189882 7p14.2 7 35873657 A null D N 79 79 missense 0.024 benign 0.21 tolerated - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1466447754 7p14.2 7 35873661 G null Y C 80 80 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs11538081 7p14.2 7 35873663 G null I V 81 81 missense 0.255 benign 0.04 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs762644796 7p14.2 7 35873669 G null S G 83 83 missense 0.553 possibly damaging 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1786297971 7p14.2 7 35873676 A null F Y 85 85 missense 0.018 benign 0.01 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1368442987 7p14.2 7 35873682 T null D V 87 87 missense 0.531 possibly damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1786298349 7p14.2 7 35873685 C null Y S 88 88 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1786298538 7p14.2 7 35873694 G null A G 91 91 missense 0.089 benign 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1583600284 7p14.2 7 35873702 T null R * 94 94 stop gained 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1786299094 7p14.2 7 35873703 A null R Q 94 94 missense 0.468 possibly damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs970771673 7p14.2 7 35873714 T null R C 98 98 missense 0.143 benign 0.02 deleterious - low confidence 1 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1786299522 7p14.2 7 35873715 A null R H 98 98 missense 0.029 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1786299713 7p14.2 7 35873718 G null Q R 99 99 missense 0.082 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,dbSNP,dbSNP,gnomAD rs763712762 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7p14.2 7 35873723 T null P S 101 101 missense 0.214 benign 0.0 deleterious - low confidence 1 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs751077685 7p14.2 7 35873730 G null N S 103 103 missense 0.013 benign 0.49 tolerated - low confidence 1 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs754422485 7p14.2 7 35873742 T null C F 107 107 missense 0.973 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs755357863 7p14.2 7 35873749 T null L F 109 109 missense 0.966 probably damaging 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs779310600 7p14.2 7 35873754 C null F S 111 111 missense 1.0 probably damaging 0.0 deleterious - low confidence 1 A0A024RA87 SEPTIN7 Septin Ensembl rs1786303179 7p14.2 7 35873769 T null G V 116 116 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1206919540 7p14.2 7 35873772 G null H R 117 117 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1236697143 7p14.2 7 35873771 T null H Y 117 117 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1258876781 7p14.2 7 35873774 A null G R 118 118 missense 0.667 possibly damaging 0.03 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1786719522 7p14.2 7 35879831 T null P L 121 121 missense 0.991 probably damaging 0.0 deleterious - low confidence 1 A0A024RA87 SEPTIN7 Septin gnomAD rs1450344508 7p14.2 7 35879830 T null P S 121 121 missense 0.905 possibly damaging 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1189003360 7p14.2 7 35879839 G null I V 124 124 missense 0.038 benign 0.05 tolerated - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1771722065 7p14.2 7 35879843 G null E G 125 125 missense 0.987 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1162938980 7p14.2 7 35879847 G null F L 126 126 missense 0.37 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1351743631 7p14.2 7 35879848 G null M V 127 127 missense 0.972 probably damaging 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs765728361 7p14.2 7 35879853 C null K N 128 128 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1786721351 7p14.2 7 35879852 G null K R 128 128 missense 0.119 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin dbSNP,dbSNP,gnomAD rs1319888049 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7p14.2 7 35879854 T null R C 129 129 missense 0.904 possibly damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs745712983 7p14.2 7 35879855 A null R H 129 129 missense 0.036 benign 0.08 tolerated - low confidence 1 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs778001627 7p14.2 7 35879864 G null E G 132 132 missense 0.456 possibly damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs751809485 7p14.2 7 35879873 G null N S 135 135 missense 0.991 probably damaging 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1182225778 7p14.2 7 35879878 C null I L 137 137 missense 0.787 possibly damaging 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs757510137 7p14.2 7 35879879 C null I T 137 137 missense 0.962 probably damaging 0.0 deleterious - low confidence 1 A0A024RA87 SEPTIN7 Septin TOPMed rs1786723624 7p14.2 7 35879889 G null I M 140 140 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs746005567 7p14.2 7 35879905 T null L F 146 146 missense 0.119 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1265645647 7p14.2 7 35879909 T null T I 147 147 missense 0.602 possibly damaging 0.0 deleterious - low confidence 1 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs769767796 7p14.2 7 35879911 T null P S 148 148 missense 0.555 possibly damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs779862600 7p14.2 7 35879916 C null E D 149 149 missense 0.133 benign 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1379271783 7p14.2 7 35879923 A null Q K 152 152 missense 0.011 benign 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs749056864 7p14.2 7 35879928 C null Q H 153 153 missense 0.007 benign 0.01 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs2116263886 7p14.2 7 35879927 G null Q R 153 153 missense 0.003 benign 0.04 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1786947485 7p14.2 7 35882484 G null I V 158 158 missense 0.071 benign 0.06 tolerated - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1786947687 7p14.2 7 35882490 C null K Q 160 160 missense 0.05 benign 0.01 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1294581509 7p14.2 7 35882497 C null I T 162 162 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1470272403 7p14.2 7 35882506 G null H R 165 165 missense 0.883 possibly damaging 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1177134218 7p14.2 7 35882512 C null I T 167 167 missense 0.998 probably damaging 0.01 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs543252898 7p14.2 7 35882519 G null I M 169 169 missense 0.997 probably damaging 0.03 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1786949338 7p14.2 7 35882517 G null I V 169 169 missense 0.17 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1786950439 7p14.2 7 35882521 G null Y C 170 170 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1396052968 7p14.2 7 35882520 C null Y H 170 170 missense 0.978 probably damaging 0.01 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1786949806 7p14.2 7 35882519_35882520insCTACGCTA C null Y L 170 170 stop gained 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1376415583 7p14.2 7 35882524 C null E A 171 171 missense 0.918 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1178756333 7p14.2 7 35882523 A null E K 171 171 missense 0.327 benign 0.0 deleterious - low confidence 1 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1178756333 7p14.2 7 35882523 C null E Q 171 171 missense 0.686 possibly damaging 0.03 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1786951556 7p14.2 7 35882529 G null P A 173 173 missense 0.994 probably damaging 0.01 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs781461599 7p14.2 7 35882535 G null T A 175 175 missense 0.018 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1786952773 7p14.2 7 35882538 T null D Y 176 176 missense 0.747 possibly damaging 0.01 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1786953072 7p14.2 7 35882547 A null E K 179 179 missense 0.807 possibly damaging 0.01 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1444134255 7p14.2 7 35882551 G null E G 180 180 missense 0.909 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1400727688 7p14.2 7 35882559 G null L V 183 183 missense 0.041 benign 0.04 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1325525493 7p14.2 7 35882569 G null K R 186 186 missense 0.024 benign 0.03 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1583620560 7p14.2 7 35883893 A null D E 189 189 missense 0.015 benign 0.17 tolerated - low confidence 0 A0A024RA87 SEPTIN7 Septin ESP,ExAC,gnomAD rs370969117 7p14.2 7 35883894 T null R C 190 190 missense 0.066 benign 0.02 deleterious - low confidence 1 A0A024RA87 SEPTIN7 Septin TOPMed,dbSNP,dbSNP,gnomAD rs1289333452 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7p14.2 7 35883895 A null R H 190 190 missense 0.024 benign 0.03 deleterious - low confidence 1 A0A024RA87 SEPTIN7 Septin Ensembl rs2116292835 7p14.2 7 35883907 G null A G 194 194 missense 0.98 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs767670433 7p14.2 7 35883912 A null V I 196 196 missense 0.063 benign 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs756181603 7p14.2 7 35883927 C null I L 201 201 missense 0.015 benign 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs754002735 7p14.2 7 35883928 C null I T 201 201 missense 0.355 benign 0.01 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs756181603 7p14.2 7 35883927 G null I V 201 201 missense 0.007 benign 0.17 tolerated - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs754863481 7p14.2 7 35883946 G null K R 207 207 missense 0.015 benign 0.05 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1583620677 7p14.2 7 35883950 T null R S 208 208 missense 0.25 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1787063867 7p14.2 7 35883952 C null V A 209 209 missense 0.989 probably damaging 0.01 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs778995475 7p14.2 7 35883965 T null Q H 213 213 missense 0.937 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1199377689 7p14.2 7 35883964 T null Q L 213 213 missense 0.24 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1199377689 7p14.2 7 35883964 G null Q R 213 213 missense 0.039 benign 0.04 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1162277681 7p14.2 7 35883969 A null P T 215 215 missense 0.957 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1388020783 7p14.2 7 35883979 C null V A 218 218 missense 0.803 possibly damaging 0.01 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1787204984 7p14.2 7 35885831 T null E V 222 222 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs2116305379 7p14.2 7 35885846 A null C Y 227 227 missense 0.975 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1787205810 7p14.2 7 35885855 T null T I 230 230 missense 0.04 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1254483007 7p14.2 7 35885857 G null I V 231 231 missense 0.001 benign 0.22 tolerated - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1188218903 7p14.2 7 35885867 G null N S 234 234 missense 0.649 possibly damaging 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs769341158 7p14.2 7 35885870 C null M T 235 235 missense 0.525 possibly damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1787580159 7p14.2 7 35890670 T null T I 239 239 missense 0.406 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1468892434 7p14.2 7 35890672 A null H N 240 240 missense 0.821 possibly damaging 0.01 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1787580517 7p14.2 7 35890677 A null M I 241 241 missense 0.11 benign 0.01 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1787580678 7p14.2 7 35890678 A null Q K 242 242 missense 0.039 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs747316599 7p14.2 7 35890687 G null K E 245 245 missense 0.981 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin dbSNP,dbSNP,gnomAD rs1246028482 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7p14.2 7 35890690 T null D Y 246 246 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1486734843 7p14.2 7 35890697 T null T I 248 248 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs771370308 7p14.2 7 35890699 G null N D 249 249 missense 0.139 benign 0.01 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1787582172 7p14.2 7 35890700 G null N S 249 249 missense 0.257 benign 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC rs776892910 7p14.2 7 35890703 G null N S 250 250 missense 0.323 benign 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ESP,ExAC,TOPMed,gnomAD rs375490583 7p14.2 7 35890705 A null V I 251 251 missense 0.44 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1787582847 7p14.2 7 35890708 A null H N 252 252 missense 1.0 probably damaging 0.0 deleterious - low confidence 1 A0A024RA87 SEPTIN7 Septin Ensembl rs1787582847 7p14.2 7 35890708 T null H Y 252 252 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1420068114 7p14.2 7 35890712 G null Y C 253 253 missense 0.911 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1340487378 7p14.2 7 35890711 C null Y H 253 253 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1234497394 7p14.2 7 35890719 G null N K 255 255 missense 0.983 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1444429110 7p14.2 7 35890718 G null N S 255 255 missense 0.985 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1787584050 7p14.2 7 35890721 G null Y C 256 256 missense 0.983 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1787583856 7p14.2 7 35890720 A null Y N 256 256 missense 0.918 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1583635101 7p14.2 7 35890729 G null R G 259 259 missense 0.438 benign 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1787584520 7p14.2 7 35890736 A null L H 261 261 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs988669499 7p14.2 7 35890739 T null A V 262 262 missense 0.678 possibly damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs2116332304 7p14.2 7 35890744 A null V M 264 264 missense 0.399 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1787585055 7p14.2 7 35890748 T null T I 265 265 missense 0.652 possibly damaging 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1787585575 7p14.2 7 35890751 G null Y C 266 266 missense 0.007 benign 0.28 tolerated - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1787585575 7p14.2 7 35890751 T null Y F 266 266 missense 0.209 benign 0.22 tolerated - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1433328982 7p14.2 7 35890750 C null Y H 266 266 missense 0.021 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs763191546 7p14.2 7 35890754 G null N S 267 267 missense 0.033 benign 0.03 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1412505847 7p14.2 7 35890757 C null G A 268 268 missense 0.763 possibly damaging 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1562582943 7p14.2 7 35890759 A null V I 269 269 missense 0.006 benign 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1411886354 7p14.2 7 35890763 G null D G 270 270 missense 0.015 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1294665752 7p14.2 7 35890770 G null N K 272 272 missense 0.0 benign 0.07 tolerated - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs13239533 7p14.2 7 35890769 C null N T 272 272 missense 0.0 benign 0.08 tolerated - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1487143530 7p14.2 7 35890777 C null K Q 275 275 missense 0.298 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed rs981304633 7p14.2 7 35890784 G null Q R 277 277 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,dbSNP,dbSNP rs1294218320 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7p14.2 7 35898252 T null P S 282 282 missense 0.549 possibly damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1282744124 7p14.2 7 35898273 C null E Q 289 289 missense 0.89 possibly damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1181579572 7p14.2 7 35898281 C null R S 291 291 missense 0.026 benign 0.01 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1788077598 7p14.2 7 35898299 T null M I 297 297 missense 0.01 benign 0.05 tolerated - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1562590029 7p14.2 7 35898307 C null M T 300 300 missense 0.093 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1788078318 7p14.2 7 35898312 C null M L 302 302 missense 0.0 benign 0.06 tolerated - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1178267980 7p14.2 7 35898326 T null Q H 306 306 missense 0.844 possibly damaging 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1788079151 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7p14.2 7 35898338 A null M I 310 310 missense 0.017 benign 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1300346939 7p14.2 7 35898345 G null K E 313 313 missense 0.434 benign 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1583650370 7p14.2 7 35898358 G null Q R 317 317 missense 0.17 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1326379004 7p14.2 7 35903083 A null R Q 328 328 missense 0.144 benign 0.01 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1244347828 7p14.2 7 35903082 T null R W 328 328 missense 0.05 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,dbSNP,dbSNP,gnomAD rs761757988 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7p14.2 7 35903085 T null R C 329 329 missense 0.025 benign 0.0 deleterious - low confidence 1 A0A024RA87 SEPTIN7 Septin TOPMed,dbSNP,dbSNP,gnomAD rs1268643235 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7p14.2 7 35903086 A null R H 329 329 missense 0.025 benign 0.02 deleterious - low confidence 1 A0A024RA87 SEPTIN7 Septin gnomAD rs1788419928 7p14.2 7 35903090 G null H Q 330 330 missense 0.074 benign 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1341690255 7p14.2 7 35903096 T null Q H 332 332 missense 0.844 possibly damaging 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1416446156 7p14.2 7 35903100 G null K E 334 334 missense 0.148 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1375942774 7p14.2 7 35903101 G null K R 334 334 missense 0.021 benign 0.06 tolerated - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1215266377 7p14.2 7 35903104 G null K R 335 335 missense 0.009 benign 0.16 tolerated - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1788420763 7p14.2 7 35903106 C null N H 336 336 missense 0.438 benign 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1788421089 7p14.2 7 35903115 A null A T 339 339 missense 0.01 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1307377344 7p14.2 7 35903116 T null A V 339 339 missense 0.119 benign 0.01 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1446796189 7p14.2 7 35903142 T null R C 348 348 missense 0.034 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs772920680 7p14.2 7 35903143 A null R H 348 348 missense 0.786 possibly damaging 0.01 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs375555966 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7p14.2 7 35903145 T null R C 349 349 missense 0.889 possibly damaging 0.0 deleterious - low confidence 1 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs765997248 7p14.2 7 35903146 A null R H 349 349 missense 0.031 benign 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ESP,ExAC,TOPMed,gnomAD rs375555966 7p14.2 7 35903145 A null R S 349 349 missense 0.093 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1162180006 7p14.2 7 35903149 G null Q R 350 350 missense 0.005 benign 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1414980517 7p14.2 7 35903152 G null F C 351 351 missense 0.767 possibly damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin 1000Genomes,ExAC,TOPMed,gnomAD rs2710800 7p14.2 7 35903153 A null F L 351 351 missense 0.005 benign 0.11 tolerated - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1165581420 7p14.2 7 35903154 A null E K 352 352 missense 0.355 benign 0.0 deleterious - low confidence 1 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs754620356 7p14.2 7 35903165 C null K N 355 355 missense 0.368 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1319988003 7p14.2 7 35903167 G null A G 356 356 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1788423827 7p14.2 7 35903169 C null N H 357 357 missense 0.003 benign 0.04 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs752162655 7p14.2 7 35903184 G null Q E 362 362 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1292825433 7p14.2 7 35903187 T null R C 363 363 missense 0.715 possibly damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1332746119 7p14.2 7 35903188 A null R H 363 363 missense 0.003 benign 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin gnomAD rs1274355923 7p14.2 7 35903191 C null I T 364 364 missense 0.022 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1235146842 7p14.2 7 35903190 G null I V 364 364 missense 0.0 benign 0.08 tolerated - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1788426138 7p14.2 7 35903207 A null N K 369 369 missense 0.015 benign 0.3 tolerated - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1286754370 7p14.2 7 35903208 A null S T 370 370 missense 0.025 benign 0.14 tolerated - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs746221445 7p14.2 7 35903212 T null S L 371 371 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1788491260 7p14.2 7 35904264 C null K Q 376 376 missense 0.16 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs760435092 7p14.2 7 35904271 T null K M 378 378 missense 0.638 possibly damaging 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin Ensembl rs1788491667 7p14.2 7 35904272 C null K N 378 378 missense 0.119 benign 0.02 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,gnomAD rs760435092 7p14.2 7 35904271 G null K R 378 378 missense 0.003 benign 0.03 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed,gnomAD rs766125911 7p14.2 7 35904275 T null K N 379 379 missense 0.021 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed rs776436237 7p14.2 7 35904280 C null G A 381 381 missense 0.013 benign 0.01 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin ExAC,TOPMed rs776436237 7p14.2 7 35904280 A null G E 381 381 missense 0.37 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed rs1213314201 7p14.2 7 35904285 C null I L 383 383 missense 0.011 benign 0.0 deleterious - low confidence 0 A0A024RA87 SEPTIN7 Septin TOPMed,gnomAD rs1211043739 7p14.2 7 35904287 G null I M 383 383 missense 0.284 benign 0.0 deleterious - low confidence 0 A0A024RBG1 NUDT4B Diphosphoinositol polyphosphate phosphohydrolase NUDT4B Ensembl rs1558397755 1q21.2 1 148748996 G null E G 15 15 missense 0.819 possibly damaging 0.0 deleterious - low confidence 0 A0A024RBG1 NUDT4B Diphosphoinositol polyphosphate phosphohydrolase NUDT4B Ensembl rs112714472 1q21.2 1 148749091 T null I F 47 47 missense 0.932 probably damaging 0.0 deleterious - low confidence 0 A0A024RBG1 NUDT4B Diphosphoinositol polyphosphate phosphohydrolase NUDT4B Ensembl rs1558397759 1q21.2 1 148749133 A null G S 61 61 missense 0.248 benign 0.17 tolerated - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs761234276 12q24.31 12 122788828 G null A G 5 5 missense 0.284 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs756743489 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122788833 T null R C 7 7 missense 0.123 benign 0.05 tolerated 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes,ExAC,TOPMed,gnomAD rs141243392 12q24.31 12 122788834 A null R H 7 7 0.000196232 missense 0.053 benign 0.13 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs2030425581 12q24.31 12 122788838 G null D E 8 8 missense 0.189 benign 0.07 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1311755413 12q24.31 12 122788837 T null D V 8 8 missense 0.977 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs919957536 12q24.31 12 122788843 G null K R 10 10 missense 0.788 possibly damaging 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs2030425964 12q24.31 12 122788847 A null M I 11 11 missense 0.41 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1215823006 12q24.31 12 122788849 T null A V 12 12 missense 0.0 benign 1.0 tolerated 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1331092374 12q24.31 12 122788857 A null C S 15 15 missense 0.017 benign 0.48 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1457408352 12q24.31 12 122788860 G null I V 16 16 missense 0.006 benign 0.22 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs2030429564 12q24.31 12 122788871 C null E D 19 19 missense 0.713 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs974695507 12q24.31 12 122788870 G null E G 19 19 missense 0.988 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ESP,TOPMed,gnomAD rs370209442 12q24.31 12 122788869 A null E K 19 19 missense 0.981 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ESP,ExAC,TOPMed,gnomAD rs202205961 12q24.31 12 122788873 G null K R 20 20 missense 0.988 probably damaging 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ESP,ExAC,TOPMed,gnomAD rs202205961 12q24.31 12 122788873 C null K T 20 20 missense 0.984 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs952306924 12q24.31 12 122788875 G null Q E 21 21 missense 0.401 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs952306924 12q24.31 12 122788875 A null Q K 21 21 missense 0.943 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs2030431039 12q24.31 12 122788876 G null Q R 21 21 missense 0.959 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs199854554 12q24.31 12 122788880 G null D E 22 22 missense 0.961 probably damaging 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs2030431358 12q24.31 12 122788878 C null D H 22 22 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1387785760 12q24.31 12 122788894 A null L * 27 27 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs774175442 12q24.31 12 122788899 A null A T 29 29 missense 0.007 benign 0.49 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs748235376 12q24.31 12 122788900 T null A V 29 29 missense 0.007 benign 0.38 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs772085306 12q24.31 12 122788902 T null L F 30 30 missense 0.065 benign 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368758447 12q24.31 12 122788906 G null K R 31 31 0.000588697 missense 0.025 benign 0.15 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs761037261 12q24.31 12 122788918 G null N S 35 35 missense 0.038 benign 0.45 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1283485549 12q24.31 12 122788921 T null K I 36 36 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs777073101 12q24.31 12 122788924 C null L P 37 37 missense 0.992 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1555254717 12q24.31 12 122788929 T null E * 39 39 missense 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1555254717 12q24.31 12 122788929 A null E K 39 39 missense 0.32 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1344079032 12q24.31 12 122792028 G null N D 42 42 missense 0.943 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs764663509 12q24.31 12 122792029 G null N S 42 42 missense 0.401 benign 0.29 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs749893773 12q24.31 12 122792038 A null T K 45 45 missense 0.613 possibly damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs749893773 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122792038 T null T M 45 45 missense 0.816 possibly damaging 0.05 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs2030640829 12q24.31 12 122792044 G null E G 47 47 missense 0.988 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs2030641252 12q24.31 12 122792048 G null N K 48 48 missense 0.993 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs1033861844 12q24.31 12 122792050 G null N S 49 49 missense 0.983 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs754799246 12q24.31 12 122792053 G null E G 50 50 missense 0.413 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1442547280 12q24.31 12 122792055 A null Q K 51 51 missense 0.212 benign 0.08 tolerated 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ESP,ExAC,TOPMed,gnomAD rs372331925 12q24.31 12 122792056 C null Q P 51 51 missense 0.009 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs992259057 12q24.31 12 122792058 T null R * 52 52 missense 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143361087 12q24.31 12 122792059 A null R Q 52 52 missense 0.569 possibly damaging 0.05 tolerated 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1436511899 12q24.31 12 122792062 G null E G 53 53 missense 0.687 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs1485695776 12q24.31 12 122792061 A null E K 53 53 missense 0.408 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs1485695776 12q24.31 12 122792061 C null E Q 53 53 missense 0.168 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs762641313 12q24.31 12 122792065 G null E G 54 54 missense 0.644 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs950740146 12q24.31 12 122792067 G null I V 55 55 missense 0.922 probably damaging 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1212393442 12q24.31 12 122792072 G null I M 56 56 missense 0.722 possibly damaging 0.05 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2030645759 12q24.31 12 122792071 C null I T 56 56 missense 0.049 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs984795619 12q24.31 12 122792070 G null I V 56 56 missense 0.029 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs2030646550 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122792073 T null R C 57 57 missense 0.994 probably damaging 0.0 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs765867205 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122792074 A null R H 57 57 missense 0.994 probably damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs1244157482 12q24.31 12 122792079 G null K E 59 59 missense 0.981 probably damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs747041118 12q24.31 12 122792084 C null Q H 60 60 missense 0.682 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs771186923 12q24.31 12 122792088 T null K * 62 62 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs771186923 12q24.31 12 122792088 G null K E 62 62 missense 0.089 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs771186923 12q24.31 12 122792088 C null K Q 62 62 missense 0.326 benign 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2030648655 12q24.31 12 122792092 A null S N 63 63 missense 0.041 benign 0.1 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs770066309 12q24.31 12 122792093 A null S R 63 63 missense 0.653 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs775646453 12q24.31 12 122792095 T null C F 64 64 missense 0.014 benign 0.4 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1351911557 12q24.31 12 122792101 G null H R 66 66 missense 0.135 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs2030651579 12q24.31 12 122792104 G null D G 67 67 missense 0.918 probably damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ESP,ExAC,TOPMed,gnomAD rs375333901 12q24.31 12 122792103 A null D N 67 67 missense 0.975 probably damaging 0.25 tolerated 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs760146684 12q24.31 12 122792111 T null L F 69 69 missense 0.995 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,dbSNP,dbSNP rs1426015988 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122792119 T null T I 72 72 missense 0.026 benign 0.01 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs2030653338 12q24.31 12 122792118 T null T S 72 72 missense 0.087 benign 0.17 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs1301960706 12q24.31 12 122797307 C null V A 73 73 missense 0.001 benign 1.0 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs2030654249 12q24.31 12 122792121 A null V I 73 73 missense 0.173 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs1413563479 12q24.31 12 122797312 G null R G 75 75 missense 0.984 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs775259284 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122797313 C null R T 75 75 missense 0.984 probably damaging 0.0 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs79287693 12q24.31 12 122797319 G null K R 77 77 missense 0.628 possibly damaging 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs762814336 12q24.31 12 122797322 A null R K 78 78 missense 0.996 probably damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs764051643 12q24.31 12 122797323 T null R S 78 78 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1355278893 12q24.31 12 122797328 C null D A 80 80 missense 0.925 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs751409749 12q24.31 12 122797331 G null E G 81 81 missense 0.631 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1293604092 12q24.31 12 122797330 A null E K 81 81 missense 0.464 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs1409417843 12q24.31 12 122797335 C null L F 82 82 missense 0.859 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs2031024476 12q24.31 12 122797341 A null N K 84 84 missense 0.023 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs750418742 12q24.31 12 122797346 A null A E 86 86 missense 0.983 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs750418742 12q24.31 12 122797346 G null A G 86 86 missense 0.981 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ESP,ExAC,TOPMed,gnomAD rs146255239 12q24.31 12 122797345 T null A S 86 86 missense 0.973 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ESP,ExAC,TOPMed,gnomAD rs146255239 12q24.31 12 122797345 A null A T 86 86 missense 0.988 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs750418742 12q24.31 12 122797346 T null A V 86 86 missense 0.988 probably damaging 0.0 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1197502961 12q24.31 12 122797350 C null K N 87 87 missense 0.988 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs780106765 12q24.31 12 122797354 G null K E 89 89 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs749590258 12q24.31 12 122797360 T null E * 91 91 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs749590258 12q24.31 12 122797360 A null E K 91 91 missense 0.734 possibly damaging 0.05 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs755321849 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122797363 T null R C 92 92 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs993212157 12q24.31 12 122797364 A null R H 92 92 missense 0.999 probably damaging 0.0 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1318758741 12q24.31 12 122797366 G null T A 93 93 missense 0.486 possibly damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1318758741 12q24.31 12 122797366 C null T P 93 93 missense 0.928 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs1966687600 12q24.31 12 122797371 A null N K 94 94 missense 0.159 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1169963403 12q24.31 12 122797378 G null L V 97 97 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1327714787 12q24.31 12 122797391 T null R I 101 101 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2031028042 12q24.31 12 122797393 T null Q * 102 102 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1176037305 12q24.31 12 122798086 C null I T 103 103 missense 0.159 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1322062264 12q24.31 12 122798089 T null Y F 104 104 missense 0.682 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2031070544 12q24.31 12 122798096 C null K N 106 106 missense 0.45 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1359049473 12q24.31 12 122798097 G null Q E 107 107 missense 0.189 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1453465931 12q24.31 12 122798104 A null S N 109 109 missense 0.023 benign 0.15 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs756143185 12q24.31 12 122798106 T null D Y 110 110 missense 0.878 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2031071895 12q24.31 12 122798109 G null L V 111 111 missense 0.365 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2031072067 12q24.31 12 122798112 T null Q * 112 112 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs753929252 12q24.31 12 122798113 T null Q L 112 112 missense 0.32 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs2031072661 12q24.31 12 122798119 A null L H 114 114 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,dbSNP,dbSNP,gnomAD rs971303790 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122798118 A null L I 114 114 missense 0.997 probably damaging 0.0 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs755125925 12q24.31 12 122798125 G null F C 116 116 missense 0.806 possibly damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs779139526 12q24.31 12 122798128 T null N I 117 117 missense 0.479 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs748464736 12q24.31 12 122798129 A null N K 117 117 missense 0.163 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs779139526 12q24.31 12 122798128 G null N S 117 117 missense 0.021 benign 0.07 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs984616654 12q24.31 12 122798136 G null N D 120 120 missense 0.12 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1229439242 12q24.31 12 122798140 G null S C 121 121 missense 0.095 benign 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1229439242 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122798140 A null S Y 121 121 missense 0.941 probably damaging 0.02 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs778113712 12q24.31 12 122798152 C null I T 125 125 missense 0.082 benign 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ESP,ExAC,TOPMed,gnomAD rs373556095 12q24.31 12 122798154 T null Q * 126 126 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs769178465 12q24.31 12 122798158 C null M T 127 127 missense 0.003 benign 0.07 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1293527904 12q24.31 12 122798157 G null M V 127 127 missense 0.003 benign 0.12 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs78361567 12q24.31 12 122798161 G null Y C 128 128 0.0060832 missense 0.01 benign 0.19 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs78361567 12q24.31 12 122798161 T null Y F 128 128 0.0060832 missense 0.007 benign 0.05 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1368912379 12q24.31 12 122798163 A null D N 129 129 missense 0.003 benign 0.12 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1480871094 12q24.31 12 122798166 A null S T 130 130 missense 0.006 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs768372312 12q24.31 12 122798169 G null K E 131 131 missense 0.102 benign 0.07 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs768372312 12q24.31 12 122798169 C null K Q 131 131 missense 0.195 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs774192846 12q24.31 12 122798172 G null M V 132 132 missense 0.006 benign 0.25 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1160271001 12q24.31 12 122798175 T null E * 133 133 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes,TOPMed,gnomAD rs189466786 12q24.31 12 122798177 C null E D 133 133 missense 0.007 benign 0.15 tolerated 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs369413638 12q24.31 12 122798200 A null S N 141 141 missense 0.379 benign 0.05 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ESP,ExAC,gnomAD rs370023254 12q24.31 12 122801133 A null M I 144 144 missense 0.125 benign 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ESP,ExAC,TOPMed,gnomAD rs375704989 12q24.31 12 122801131 C null M L 144 144 missense 0.006 benign 0.33 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2031276949 12q24.31 12 122801132 C null M T 144 144 missense 0.297 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ESP,ExAC,TOPMed,gnomAD rs375704989 12q24.31 12 122801131 G null M V 144 144 missense 0.125 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1437273992 12q24.31 12 122801135 T null C F 145 145 missense 0.963 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1205859048 12q24.31 12 122801140 C null S P 147 147 missense 0.917 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs757607826 12q24.31 12 122801149 A null E K 150 150 missense 0.664 possibly damaging 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs757607826 12q24.31 12 122801149 C null E Q 150 150 missense 0.861 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs373036488 12q24.31 12 122801161 T null P S 154 154 missense 0.02 benign 0.31 tolerated 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1258588651 12q24.31 12 122801164 G null K E 155 155 missense 0.997 probably damaging 0.05 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs754520724 12q24.31 12 122801171 G null D G 157 157 missense 0.089 benign 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes,ExAC,TOPMed,gnomAD rs188186254 12q24.31 12 122801170 A null D N 157 157 missense 0.003 benign 0.11 tolerated 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs778507187 12q24.31 12 122801174 A null I N 158 158 missense 0.552 possibly damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1341052041 12q24.31 12 122801176 G null K E 159 159 missense 0.041 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1356200326 12q24.31 12 122801180 A null R K 160 160 missense 0.88 possibly damaging 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2031281144 12q24.31 12 122801188 G null N D 163 163 missense 0.003 benign 0.14 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs1394115530 12q24.31 12 122801201 C null L P 167 167 missense 0.01 benign 0.11 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2031281633 12q24.31 12 122801205 A null F L 168 168 missense 0.0 benign 0.19 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs2031281790 12q24.31 12 122801207 C null K T 169 169 missense 0.794 possibly damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes,ExAC,TOPMed,gnomAD rs201433522 12q24.31 12 122801209 A null D N 170 170 missense 0.569 possibly damaging 0.0 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1285692210 12q24.31 12 122801214 C null Q H 171 171 missense 0.007 benign 0.18 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs2031282520 12q24.31 12 122801216 T null K I 172 172 missense 0.434 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2031282689 12q24.31 12 122801219 G null F C 173 173 missense 0.895 possibly damaging 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs746798450 12q24.31 12 122801224 A null A T 175 175 missense 0.001 benign 1.0 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141587850 12q24.31 12 122801228 C null M T 176 176 0.00549451 missense 0.0 benign 1.0 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs979860198 12q24.31 12 122801227 G null M V 176 176 missense 0.0 benign 0.48 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs777883090 12q24.31 12 122801232 T null L F 177 177 missense 0.011 benign 0.22 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs2031284202 12q24.31 12 122801233 T null V F 178 178 missense 0.424 benign 0.11 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs2031284202 12q24.31 12 122801233 C null V L 178 178 missense 0.08 benign 0.11 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1368435277 12q24.31 12 122801239 G null Q E 180 180 missense 0.179 benign 0.05 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs775504326 12q24.31 12 122801248 C null S P 183 183 missense 0.003 benign 0.24 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1281536104 12q24.31 12 122801251 C null D H 184 184 missense 0.915 probably damaging 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1486832582 12q24.31 12 122801255 G null K R 185 185 missense 0.006 benign 0.17 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes,ExAC,TOPMed,gnomAD rs545336133 12q24.31 12 122801265 A null C * 188 188 0.000392465 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1040613218 12q24.31 12 122801264 A null C Y 188 188 missense 0.01 benign 0.3 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs2031287521 12q24.31 12 122801267 G null D G 189 189 missense 0.369 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs774474363 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122801266 A null D N 189 189 missense 0.028 benign 0.2 tolerated 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs762231732 12q24.31 12 122801269 T null E * 190 190 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs768051388 12q24.31 12 122801272 C null C R 191 191 missense 0.015 benign 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1432789628 12q24.31 12 122801275 G null K E 192 192 missense 0.017 benign 0.11 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs750830635 12q24.31 12 122801284 G null K E 195 195 missense 0.464 possibly damaging 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs750830635 12q24.31 12 122801284 C null K Q 195 195 missense 0.738 possibly damaging 0.08 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1487645028 12q24.31 12 122801287 G null Q E 196 196 missense 0.024 benign 0.32 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs767024804 12q24.31 12 122801291 G null Q R 197 197 missense 0.001 benign 0.13 tolerated 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs1566079716 12q24.31 12 122801294 C null I T 198 198 missense 0.038 benign 0.09 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1356926284 12q24.31 12 122801297 G null D G 199 199 missense 0.0 benign 0.27 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,dbSNP,dbSNP,gnomAD rs1431683921 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122801296 A null D N 199 199 missense 0.0 benign 1.0 tolerated 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes,ExAC,TOPMed,gnomAD rs201538122 12q24.31 12 122801300 T null T I 200 200 0.000784929 missense 0.286 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ESP,ExAC,TOPMed,gnomAD rs147898872 12q24.31 12 122801303 C null V A 201 201 missense 0.0 benign 0.83 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1234233996 12q24.31 12 122801302 A null V M 201 201 missense 0.213 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs2031292716 12q24.31 12 122801326 G null T A 209 209 missense 0.001 benign 1.0 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs17855031 12q24.31 12 122801327 T null T M 209 209 missense 0.732 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2135559694 12q24.31 12 122801333 T null S L 211 211 missense 0.946 probably damaging 0.07 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs1387473716 12q24.31 12 122801338 G null I V 213 213 missense 0.0 benign 0.13 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1390590283 12q24.31 12 122801341 G null F V 214 214 missense 0.152 benign 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2135559741 12q24.31 12 122801344 C null T P 215 215 missense 0.007 benign 0.21 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs745671215 12q24.31 12 122801352 G null D E 217 217 missense 0.996 probably damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs2031294944 12q24.31 12 122801354 C null L S 218 218 missense 0.003 benign 0.28 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs878900282 12q24.31 12 122801360 T null E V 220 220 missense 0.842 possibly damaging 0.0 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2135559779 12q24.31 12 122801363 G null K R 221 221 missense 0.006 benign 0.27 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2031295988 12q24.31 12 122801366 G null H R 222 222 missense 0.0 benign 0.2 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs749353109 12q24.31 12 122801365 T null H Y 222 222 missense 0.061 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2135559812 12q24.31 12 122801370 G null N K 223 223 missense 0.0 benign 1.0 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs1566079810 12q24.31 12 122801369 G null N S 223 223 missense 0.0 benign 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs768682142 12q24.31 12 122801375 T null P L 225 225 missense 0.209 benign 0.1 tolerated 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2135559835 12q24.31 12 122801374 T null P S 225 225 missense 0.001 benign 1.0 tolerated 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs2031296860 12q24.31 12 122801380 G null S A 227 227 missense 0.003 benign 0.2 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1401536678 12q24.31 12 122801395 G null T A 232 232 missense 0.0 benign 0.29 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs774617309 12q24.31 12 122801404 A null E K 235 235 missense 0.997 probably damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs2031297570 12q24.31 12 122801407 G null P A 236 236 missense 0.65 possibly damaging 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148126897 12q24.31 12 122801410 A null E K 237 237 0.000588697 missense 0.125 benign 0.12 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs2031298384 12q24.31 12 122801417 G null K R 239 239 missense 0.026 benign 0.2 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs1451705082 12q24.31 12 122801422 G null T A 241 241 missense 0.204 benign 0.11 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ESP,ExAC,TOPMed,gnomAD rs374651077 12q24.31 12 122801423 T null T I 241 241 missense 0.474 possibly damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2135559936 12q24.31 12 122801427 T null L F 242 242 missense 0.023 benign 0.24 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes rs1002855314 12q24.31 12 122801429 C null C S 243 243 missense 0.007 benign 0.1 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141048617 12q24.31 12 122801431 G null K E 244 244 0.000196232 missense 0.3 benign 0.12 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1224013559 12q24.31 12 122801432 C null K T 244 244 missense 0.555 possibly damaging 0.09 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs757923046 12q24.31 12 122801434 T null I F 245 245 missense 0.392 benign 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs757923046 12q24.31 12 122801434 G null I V 245 245 missense 0.003 benign 0.28 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1459081167 12q24.31 12 122801437 A null H N 246 246 missense 0.744 possibly damaging 0.13 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2135559975 12q24.31 12 122801440 G null T A 247 247 missense 0.0 benign 1.0 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs1566079878 12q24.31 12 122801450 T null P L 250 250 missense 0.007 benign 0.13 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs763572618 12q24.31 12 122801452 C null K Q 251 251 missense 0.07 benign 0.09 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs751097754 12q24.31 12 122801456 A null C Y 252 252 missense 0.251 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes,ExAC,TOPMed,gnomAD rs540867038 12q24.31 12 122801459 G null H R 253 253 0.000784929 missense 0.053 benign 0.18 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2031301523 12q24.31 12 122801461 A null G S 254 254 missense 0.316 benign 0.05 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs2031301678 12q24.31 12 122801462 T null G V 254 254 missense 0.673 possibly damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes,ExAC,TOPMed,gnomAD rs199705995 12q24.31 12 122801465 T null T I 255 255 0.000196232 missense 0.001 benign 0.69 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes,ExAC,TOPMed,gnomAD rs199705995 12q24.31 12 122801465 G null T S 255 255 0.000196232 missense 0.006 benign 0.87 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs1034934949 12q24.31 12 122801475 T null Q H 258 258 missense 0.75 possibly damaging 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2031302263 12q24.31 12 122801474 G null Q R 258 258 missense 0.369 benign 0.13 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs780033896 12q24.31 12 122801479 T null E * 260 260 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs780033896 12q24.31 12 122801479 A null E K 260 260 missense 0.236 benign 0.03 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs2031303173 12q24.31 12 122801485 G null K E 262 262 missense 0.369 benign 0.08 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1161703872 12q24.31 12 122801486 G null K R 262 262 missense 0.023 benign 0.22 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs2031303526 12q24.31 12 122801488 T null Q * 263 263 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2031303692 12q24.31 12 122801489 G null Q R 263 263 missense 0.236 benign 0.1 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs749239981 12q24.31 12 122801492 G null P R 264 264 missense 0.286 benign 0.28 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1461037280 12q24.31 12 122801494 C null S P 265 265 missense 0.932 probably damaging 0.12 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs768650790 12q24.31 12 122801504 G null P R 268 268 missense 0.037 benign 0.28 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs2031304257 12q24.31 12 122801503 A null P T 268 268 missense 0.015 benign 0.41 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs748269523 12q24.31 12 122801516 G null D G 272 272 missense 0.006 benign 0.17 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,dbSNP,dbSNP rs985198794 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122801518 A null E K 273 273 missense 0.113 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2031305348 12q24.31 12 122801523 T null K N 274 274 missense 0.477 possibly damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2135560181 12q24.31 12 122801529 T null W C 276 276 missense 0.965 probably damaging 0.05 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1449640182 12q24.31 12 122801527 G null W G 276 276 missense 0.745 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1328712948 12q24.31 12 122801531 G null H R 277 277 missense 0.392 benign 0.13 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs772372235 12q24.31 12 122801533 C null D H 278 278 missense 0.963 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs772372235 12q24.31 12 122801533 A null D N 278 278 missense 0.896 possibly damaging 0.12 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs773618660 12q24.31 12 122801534 T null D V 278 278 missense 0.762 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2031306638 12q24.31 12 122801537 C null V A 279 279 missense 0.055 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1289895084 12q24.31 12 122801536 A null V I 279 279 missense 0.003 benign 0.32 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1273304407 12q24.31 12 122801549 C null L P 283 283 missense 0.922 probably damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ESP,ExAC,TOPMed,dbSNP,gnomAD rs139198472 [UniProt]: SPGF67; uncertain significance pubmed:31985809 12q24.31 12 122797381 T null H Y 283 283 missense 0 Spermatogenic failure 67 (SPGF67) An autosomal recessive male infertility disorder characterized by globozoospermia. Affected individuals have a normal sperm count, but spermatozoa are round-headed and lack the acrosome. In addition to pure globozoospermia, some patients have a mixture of acrosomeless spermatozoa and spermatozoa with small or detached acrosomes, which is defined as acrosomal hypoplasia. MIM:619803 pubmed:31985809 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs1593808264 12q24.31 12 122801555 C null L P 285 285 missense 0.028 benign 0.05 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2031308162 12q24.31 12 122801560 C null N H 287 287 missense 0.356 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ESP,ExAC,gnomAD rs368745484 12q24.31 12 122801561 G null N S 287 287 missense 0.0 benign 0.43 tolerated 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ESP,ExAC,TOPMed,gnomAD rs138955637 12q24.31 12 122801564 A null C Y 288 288 missense 0.963 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1173972839 12q24.31 12 122801567 A null P Q 289 289 missense 0.397 benign 0.19 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs1194993713 12q24.31 12 122801566 T null P S 289 289 missense 0.003 benign 1.0 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2031309608 12q24.31 12 122801569 T null S C 290 290 missense 0.36 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs750997907 12q24.31 12 122801579 G null H R 293 293 missense 0.0 benign 0.28 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1376560907 12q24.31 12 122801578 T null H Y 293 293 missense 0.061 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1370289900 12q24.31 12 122801585 C null E A 295 295 missense 0.129 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs761358663 12q24.31 12 122801586 T null E D 295 295 missense 0.003 benign 0.27 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1370289900 12q24.31 12 122801585 G null E G 295 295 missense 0.003 benign 0.13 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1263972951 12q24.31 12 122801584 A null E K 295 295 missense 0.242 benign 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1263972951 12q24.31 12 122801584 C null E Q 295 295 missense 0.379 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs1197723509 12q24.31 12 122801587 T null K * 296 296 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs1435900488 12q24.31 12 122801588 T null K M 296 296 missense 0.915 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs1280923985 12q24.31 12 122801589 T null K N 296 296 missense 0.723 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1412158291 12q24.31 12 122801595 G null D E 298 298 missense 0.069 benign 0.18 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1196512393 12q24.31 12 122801594 G null D G 298 298 missense 0.464 possibly damaging 0.09 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,dbSNP,dbSNP,gnomAD rs767122360 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122801597 C null V A 299 299 missense 0.0 benign 0.57 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs549775391 12q24.31 12 122801596 A null V I 299 299 missense 0.001 benign 0.47 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2031312986 12q24.31 12 122801599 A null E K 300 300 missense 0.13 benign 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs755888041 12q24.31 12 122801602 C null C R 301 301 missense 0.326 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1293508547 12q24.31 12 122801605 T null Q * 302 302 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1301334181 12q24.31 12 122801608 A null D N 303 303 missense 0.861 possibly damaging 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs753671216 12q24.31 12 122801611 G null Q E 304 304 missense 0.024 benign 0.97 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs754830884 12q24.31 12 122801612 G null Q R 304 304 missense 0.001 benign 0.27 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2031314500 12q24.31 12 122801614 G null M V 305 305 missense 0.0 benign 0.25 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1340003930 12q24.31 12 122801620 G null R G 307 307 missense 0.125 benign 0.22 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs778931723 12q24.31 12 122801621 T null R M 307 307 missense 0.055 benign 0.13 tolerated 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ESP,TOPMed,gnomAD rs145950256 12q24.31 12 122801622 C null R S 307 307 missense 0.011 benign 0.27 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs2031315440 12q24.31 12 122801623 C null S P 308 308 missense 0.007 benign 0.25 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs772319364 12q24.31 12 122801626 T null E * 309 309 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs772319364 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122801626 A null E K 309 309 missense 0.156 benign 0.11 tolerated 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs1593808529 12q24.31 12 122801630 C null I T 310 310 missense 0.0 benign 0.34 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1258492593 12q24.31 12 122801633 T null S L 311 311 missense 0.07 benign 0.12 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs1593808550 12q24.31 12 122801635 G null C G 312 312 missense 0.129 benign 0.08 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs778139001 12q24.31 12 122801636 A null C Y 312 312 missense 0.003 benign 0.15 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs747294737 12q24.31 12 122801639 T null C F 313 313 missense 0.085 benign 0.1 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs771200702 12q24.31 12 122801646 C null K N 315 315 missense 0.003 benign 0.25 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs776798019 12q24.31 12 122801648 G null N S 316 316 missense 0.01 benign 0.47 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2031317137 12q24.31 12 122801653 A null A T 318 318 missense 0.007 benign 0.25 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs923962912 12q24.31 12 122801654 T null A V 318 318 missense 0.007 benign 0.26 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs990690474 12q24.31 12 122801656 G null C G 319 319 missense 0.01 benign 0.07 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs990690474 12q24.31 12 122801656 C null C R 319 319 missense 0.471 possibly damaging 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs759979825 12q24.31 12 122801659 G null L V 320 320 missense 0.007 benign 0.11 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1375278557 12q24.31 12 122801662 T null G C 321 321 missense 0.878 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes,TOPMed,dbSNP,dbSNP,gnomAD rs569908909 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122801665 A null E K 322 322 0.0002 missense 0.03 benign 0.02 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs376779932 12q24.31 12 122801669 C null S T 323 323 missense 0.125 benign 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes,ExAC,TOPMed,gnomAD rs530858736 12q24.31 12 122801672 A null G D 324 324 0.000196232 missense 0.003 benign 1.0 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2031319517 12q24.31 12 122801671 A null G S 324 324 missense 0.021 benign 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs767069379 12q24.31 12 122801675 C null M T 325 325 missense 0.001 benign 0.38 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1294234465 12q24.31 12 122801674 G null M V 325 325 missense 0.0 benign 0.33 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ESP,TOPMed,gnomAD rs138584723 12q24.31 12 122801678 T null C F 326 326 missense 0.109 benign 0.22 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ESP,TOPMed,gnomAD rs138584723 12q24.31 12 122801678 A null C Y 326 326 missense 0.007 benign 0.35 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs2031320701 12q24.31 12 122801684 T null S F 328 328 missense 0.011 benign 0.09 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2135560722 12q24.31 12 122801686 G null K E 329 329 missense 0.316 benign 0.16 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1301129720 12q24.31 12 122801687 G null K R 329 329 missense 0.013 benign 0.25 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs749946854 12q24.31 12 122801696 G null H R 332 332 missense 0.048 benign 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs776373958 12q24.31 12 122801699 T null P L 333 333 missense 0.999 probably damaging 0.07 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1331331167 12q24.31 12 122801702 A null S N 334 334 missense 0.804 possibly damaging 0.15 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1331331167 12q24.31 12 122801702 C null S T 334 334 missense 0.802 possibly damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ESP,ExAC rs370139805 12q24.31 12 122801711 C null I T 337 337 missense 0.238 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs2031322052 12q24.31 12 122801710 G null I V 337 337 missense 0.003 benign 0.56 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1204734388 12q24.31 12 122801714 C null I T 338 338 missense 0.316 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1384181624 12q24.31 12 122801713 G null I V 338 338 missense 0.013 benign 0.55 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141689290 12q24.31 12 122801722 G null P A 341 341 0.000981162 missense 0.362 benign 0.05 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ESP,TOPMed rs376712102 12q24.31 12 122801723 T null P L 341 341 missense 0.041 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141689290 12q24.31 12 122801722 T null P S 341 341 0.000981162 missense 0.121 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs747092493 12q24.31 12 122801725 A null G S 342 342 missense 0.367 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2135560857 12q24.31 12 122801726 T null G V 342 342 missense 0.958 probably damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1455025486 12q24.31 12 122801728 T null H Y 343 343 missense 0.003 benign 0.19 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs781503880 12q24.31 12 122801731 G null M V 344 344 missense 0.003 benign 0.54 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371690932 12q24.31 12 122801739 G null D E 346 346 0.000196232 missense 0.996 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs1447819666 12q24.31 12 122801738 G null D G 346 346 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs75175797 12q24.31 12 122801740 C null V L 347 347 missense 0.003 benign 0.34 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs75175797 12q24.31 12 122801740 A null V M 347 347 missense 0.014 benign 0.35 tolerated 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1388792229 12q24.31 12 122801743 A null E K 348 348 missense 0.366 benign 0.05 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs769167318 12q24.31 12 122801746 G null W G 349 349 missense 0.043 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs772662041 12q24.31 12 122801751 A null M I 350 350 missense 0.011 benign 0.07 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs896847842 12q24.31 12 122801749 G null M V 350 350 missense 0.049 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs760263928 12q24.31 12 122801753 A null S N 351 351 missense 0.001 benign 0.41 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs993855750 12q24.31 12 122801763 C null K N 354 354 missense 0.07 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1303173416 12q24.31 12 122801764 A null P T 355 355 missense 0.938 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1314859675 12q24.31 12 122801768 T null S F 356 356 missense 0.888 possibly damaging 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs1056018084 12q24.31 12 122801767 A null S T 356 356 missense 0.45 possibly damaging 0.09 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs765916160 12q24.31 12 122801775 A null M I 358 358 missense 0.01 benign 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs2031330387 12q24.31 12 122801778 C null Q H 359 359 missense 0.67 possibly damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs776393227 12q24.31 12 122801777 G null Q R 359 359 missense 0.006 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs759236904 12q24.31 12 122801779 G null R G 360 360 missense 0.804 possibly damaging 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1316083322 12q24.31 12 122801783 C null I T 361 361 missense 0.021 benign 0.12 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs765144942 12q24.31 12 122801788 T null R C 363 363 missense 0.806 possibly damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1252384447 12q24.31 12 122801789 A null R H 363 363 missense 0.007 benign 0.02 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs752542291 12q24.31 12 122801791 T null L F 364 364 missense 0.066 benign 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs1566080484 12q24.31 12 122801794 G null K E 365 365 missense 0.369 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,dbSNP,dbSNP,gnomAD rs1263719641 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122801800 A null G R 367 367 missense 0.105 benign 0.03 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs758351015 12q24.31 12 122801804 T null C F 368 368 missense 0.933 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1462577584 12q24.31 12 122801803 A null C S 368 368 missense 0.589 possibly damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs1566080507 12q24.31 12 122801805 G null C W 368 368 missense 0.976 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs764145983 12q24.31 12 122801807 T null T I 369 369 missense 0.773 possibly damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs764145983 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122801807 A null T N 369 369 missense 0.957 probably damaging 0.05 tolerated 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs751645409 12q24.31 12 122801810 A null C Y 370 370 missense 0.999 probably damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes,ExAC,gnomAD rs199891405 12q24.31 12 122801817 T null E D 372 372 0.000196232 missense 0.297 benign 0.47 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2031334027 12q24.31 12 122801831 T null T I 377 377 missense 0.006 benign 0.4 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2031334027 12q24.31 12 122801831 A null T K 377 377 missense 0.023 benign 0.44 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs746171063 12q24.31 12 122801838 A null H Q 379 379 missense 0.159 benign 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs781261329 12q24.31 12 122801837 G null H R 379 379 missense 0.005 benign 0.13 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs2031334452 12q24.31 12 122801836 T null H Y 379 379 missense 0.0 benign 1.0 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs756298234 12q24.31 12 122801839 C null D H 380 380 missense 0.003 benign 0.21 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs780340207 12q24.31 12 122801846 T null P L 382 382 missense 0.0 benign 0.64 tolerated 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2135561269 12q24.31 12 122801848 T null A S 383 383 missense 0.005 benign 0.21 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1209478649 12q24.31 12 122806159 C null I T 387 387 missense 0.007 benign 0.25 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1185400083 12q24.31 12 122806168 C null Q P 390 390 missense 0.867 possibly damaging 0.11 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs780693155 12q24.31 12 122806170 T null D Y 391 391 missense 0.057 benign 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs868849647 12q24.31 12 122806176 A null H N 393 393 missense 0.173 benign 0.05 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs1593815471 12q24.31 12 122806178 G null H Q 393 393 missense 0.013 benign 0.14 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1183107572 12q24.31 12 122806180 G null S C 394 394 missense 0.001 benign 1.0 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,dbSNP,gnomAD rs17855031 pubmed:15489334 12q24.31 12 122801327 A null T K 394 394 missense 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1305466269 12q24.31 12 122806179 C null S P 394 394 missense 0.574 possibly damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs1270674925 12q24.31 12 122806186 C null G A 396 396 missense 0.486 possibly damaging 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs1593815503 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122806185 T null G C 396 396 missense 0.946 probably damaging 0.02 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1230569020 12q24.31 12 122806189 T null S F 397 397 missense 0.83 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1380341053 12q24.31 12 122806195 C null K T 399 399 missense 0.356 benign 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1427876271 12q24.31 12 122806211 T null E D 404 404 missense 0.217 benign 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes,ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs142626019 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122806219 T null T M 407 407 0.000196232 missense 0.75 possibly damaging 0.05 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142626019 12q24.31 12 122806219 G null T R 407 407 0.000196232 missense 0.018 benign 0.08 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs775318071 12q24.31 12 122806225 G null S C 409 409 missense 0.649 possibly damaging 0.08 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2031592038 12q24.31 12 122806233 G null N D 412 412 missense 0.0 benign 1.0 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs762816058 12q24.31 12 122806234 G null N S 412 412 missense 0.01 benign 0.08 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs1593815596 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122806241 T null K N 414 414 missense 0.151 benign 0.05 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs768643588 12q24.31 12 122806245 G null S A 416 416 missense 0.003 benign 0.16 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs774024082 12q24.31 12 122806249 T null P L 417 417 missense 0.091 benign 0.05 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs761755699 12q24.31 12 122806252 A null T K 418 418 missense 0.0 benign 1.0 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs761755699 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122806252 T null T M 418 418 missense 0.356 benign 0.04 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs750476793 12q24.31 12 122806257 G null L V 420 420 missense 0.369 benign 0.07 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs1156834714 12q24.31 12 122806261 G null L * 421 421 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs1425548020 12q24.31 12 122806263 T null I F 422 422 missense 0.0 benign 0.77 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs983940383 12q24.31 12 122806264 C null I T 422 422 missense 0.003 benign 0.46 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs1182759390 12q24.31 12 122806267 G null Y C 423 423 missense 0.0 benign 0.22 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs2031596790 12q24.31 12 122806266 C null Y H 423 423 missense 0.0 benign 0.53 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs1439491684 12q24.31 12 122806269 C null K Q 424 424 missense 0.382 benign 0.18 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs760784616 12q24.31 12 122806270 C null K T 424 424 missense 0.376 benign 0.21 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2135568618 12q24.31 12 122806273 T null D V 425 425 missense 0.617 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes,ExAC,gnomAD rs201866869 12q24.31 12 122806275 T null A S 426 426 0.000588697 missense 0.009 benign 0.19 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs1015039949 12q24.31 12 122806278 T null P S 427 427 missense 0.015 benign 0.1 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs1015039949 12q24.31 12 122806278 A null P T 427 427 missense 0.001 benign 0.16 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs2031598675 12q24.31 12 122806282 T null A V 428 428 missense 0.038 benign 0.62 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs1566083003 12q24.31 12 122806284 G null F V 429 429 missense 0.003 benign 0.5 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs754116643 12q24.31 12 122806288 G null N S 430 430 missense 0.0 benign 0.69 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes,ExAC,TOPMed,gnomAD rs553772107 12q24.31 12 122806293 G null K E 432 432 0.00156986 missense 0.17 benign 0.19 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs779269736 12q24.31 12 122806294 G null K R 432 432 missense 0.238 benign 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1464105304 12q24.31 12 122813270 A null A T 433 433 missense 0.042 benign 0.44 tolerated 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs766513080 12q24.31 12 122813271 T null A V 433 433 missense 0.001 benign 0.6 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs753919054 12q24.31 12 122813274 T null S L 434 434 missense 0.006 benign 0.67 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2032020002 12q24.31 12 122813277 C null I T 435 435 missense 0.0 benign 0.28 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1198034185 12q24.31 12 122813276 G null I V 435 435 missense 0.0 benign 1.0 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1247090487 12q24.31 12 122813279 T null V L 436 436 missense 0.042 benign 0.31 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1247090487 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122813279 A null V M 436 436 missense 0.477 possibly damaging 0.09 tolerated 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs765398059 12q24.31 12 122813283 C null L S 437 437 missense 0.646 possibly damaging 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs1593828478 12q24.31 12 122813282 G null L V 437 437 missense 0.543 possibly damaging 0.07 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1411490167 12q24.31 12 122813286 A null P H 438 438 missense 0.154 benign 0.08 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs753064099 12q24.31 12 122813285 T null P S 438 438 missense 0.0 benign 0.38 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs764636974 12q24.31 12 122813291 G null Q E 440 440 missense 0.015 benign 0.63 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 dbSNP,dbSNP,gnomAD rs1392322022 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122813292 G null Q R 440 440 missense 0.038 benign 0.01 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs2032021536 12q24.31 12 122813295 T null D V 441 441 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs2032021407 12q24.31 12 122813294 T null D Y 441 441 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1305031182 12q24.31 12 122813297 T null D Y 442 442 missense 0.868 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs752165996 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122813304 T null S L 444 444 missense 0.997 probably damaging 0.01 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs779657244 12q24.31 12 122813307 T null P L 445 445 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs748831792 12q24.31 12 122813309 G null T A 446 446 missense 0.996 probably damaging 0.02 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes,ExAC,TOPMed,gnomAD rs200979651 12q24.31 12 122813310 T null T M 446 446 0.000196232 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1228554163 12q24.31 12 122813312 G null S G 447 447 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1331968847 12q24.31 12 122813317 T null K N 448 448 missense 0.966 probably damaging 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1373961142 12q24.31 12 122813321 T null Q * 450 450 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ESP,ExAC,TOPMed,gnomAD rs371482324 12q24.31 12 122813324 T null R C 451 451 missense 0.999 probably damaging 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs773196241 12q24.31 12 122813325 A null R H 451 451 missense 0.999 probably damaging 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs1735612407 12q24.31 12 122813331 G null L R 453 453 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs746880817 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122813334 T null A V 454 454 missense 0.998 probably damaging 0.0 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1473058028 12q24.31 12 122813336 T null E * 455 455 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1473058028 12q24.31 12 122813336 A null E K 455 455 missense 0.997 probably damaging 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1043623162 12q24.31 12 122813340 G null S C 456 456 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1043623162 12q24.31 12 122813340 T null S F 456 456 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs776640583 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122813342 T null R C 457 457 missense 0.999 probably damaging 0.0 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs759641693 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122813343 A null R H 457 457 missense 0.999 probably damaging 0.0 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs765465257 12q24.31 12 122813349 C null M T 459 459 missense 0.99 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs55716280 12q24.31 12 122813355 T null T M 461 461 missense 0.963 probably damaging 0.0 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs775619984 12q24.31 12 122813354 C null T P 461 461 missense 0.928 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs751990186 12q24.31 12 122813359 A null D E 462 462 missense 0.349 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1806262186 12q24.31 12 122813358 G null D G 462 462 missense 0.275 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs2032026172 12q24.31 12 122813361 G null L R 463 463 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs991342989 12q24.31 12 122813363 C null E Q 464 464 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs2032026634 12q24.31 12 122813367 G null L R 465 465 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1307816236 12q24.31 12 122813370 A null S N 466 466 missense 0.196 benign 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs757793011 12q24.31 12 122813372 C null T P 467 467 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes,ExAC,dbSNP,dbSNP,gnomAD rs143536297 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122813382 T null P L 470 470 missense 0.999 probably damaging 0.0 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 1000Genomes,ExAC,gnomAD rs143536297 12q24.31 12 122813382 G null P R 470 470 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs2032027381 12q24.31 12 122813381 T null P S 470 470 missense 0.999 probably damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs376927819 12q24.31 12 122813385 C null I T 471 471 missense 0.304 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1174510283 12q24.31 12 122813390 G null H D 473 473 missense 0.015 benign 0.31 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs1566087271 12q24.31 12 122813391 C null H P 473 473 missense 0.0 benign 0.27 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ESP,ExAC,TOPMed,gnomAD rs374420339 12q24.31 12 122813392 A null H Q 473 473 missense 0.071 benign 0.34 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1358381726 12q24.31 12 122813395 C null E D 474 474 missense 0.01 benign 0.05 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1344996922 12q24.31 12 122813394 G null E G 474 474 missense 0.32 benign 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs2032029080 12q24.31 12 122813396 C null N H 475 475 missense 0.796 possibly damaging 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs1593828844 12q24.31 12 122813400 C null L P 476 476 missense 0.003 benign 0.26 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed rs947498529 12q24.31 12 122813403 T null T I 477 477 missense 0.105 benign 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs2032029724 12q24.31 12 122813406 A null G D 478 478 missense 0.062 benign 0.11 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1193960227 12q24.31 12 122813408 C null S R 479 479 missense 0.485 possibly damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1273671675 12q24.31 12 122813414 G null T A 481 481 missense 0.007 benign 0.76 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs778614854 12q24.31 12 122813415 T null T I 481 481 missense 0.026 benign 0.19 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs778614854 12q24.31 12 122813415 A null T K 481 481 missense 0.0 benign 0.99 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs747822993 12q24.31 12 122813417 G null N D 482 482 missense 0.0 benign 0.26 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs2032030701 12q24.31 12 122813419 G null N K 482 482 missense 0.026 benign 0.09 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1220054253 12q24.31 12 122826425 G null S A 484 484 missense 0.026 benign 0.14 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ESP,ExAC,TOPMed,gnomAD rs372780491 12q24.31 12 122826429 G null H R 485 485 missense 0.001 benign 0.62 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs772436650 12q24.31 12 122826434 C null C R 487 487 missense 0.0 benign 0.19 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1566093980 12q24.31 12 122826435 A null C Y 487 487 missense 0.031 benign 0.25 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs773400376 12q24.31 12 122826438 A null G E 488 488 missense 0.482 possibly damaging 0.18 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1471426192 12q24.31 12 122826440 G null R G 489 489 missense 0.068 benign 0.47 tolerated - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 Ensembl rs1566093999 12q24.31 12 122826446 G null K E 491 491 missense 0.099 benign 1.0 tolerated - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,TOPMed,gnomAD rs747430347 12q24.31 12 122826447 G null K R 491 491 missense 0.099 benign 0.53 tolerated - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1433446117 12q24.31 12 122826450 G null A G 492 492 missense 0.871 possibly damaging 0.13 tolerated - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ExAC,gnomAD rs777241229 12q24.31 12 122826458 T null N Y 495 495 missense 0.85 possibly damaging 0.01 deleterious - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 gnomAD rs1349237675 12q24.31 12 122826462 T null T I 496 496 missense 0.711 possibly damaging 0.02 deleterious - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1190119692 12q24.31 12 122826461 C null T P 496 496 missense 0.711 possibly damaging 0.02 deleterious - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 TOPMed,gnomAD rs1458285863 12q24.31 12 122826464 A null E K 497 497 missense 0.497 possibly damaging 0.15 tolerated - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62 ESP rs866509684 12q24.31 12 122826468 p null * W 498 498 stop lost 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1771086792 6p21.33 6 31410794 T null E * 11 11 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A Ensembl,dbSNP,dbSNP rs41544623 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31411083 T null L F 16 16 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs755812607 6p21.33 6 31411147 G null Y C 37 37 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1295029117 6p21.33 6 31411152 A null D N 39 39 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1051790 6p21.33 6 31411179 G null L V 48 48 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs3819268 6p21.33 6 31411282 T null H L 82 82 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs746091244 6p21.33 6 31411323 T null R * 96 96 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs763515128 6p21.33 6 31411970 T null R C 116 116 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs752018470 6p21.33 6 31411971 A null R H 116 116 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs376912874 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31411976 A null E K 118 118 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A Ensembl rs2113759485 6p21.33 6 31412027 A null P T 135 135 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs41540613 6p21.33 6 31412063 T null V L 147 147 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1051792 [UniProt]: allele MICA*004, allele MICA*005, allele MICA*006, allele MICA*008, allele MICA*009, allele MICA*010, allele MICA*013, allele MICA*016, allele MICA*019, allele MICA*022, allele MICA*024, allele MICA*027, allele MICA*028, allele MICA*033, allele MICA*044, allele MICA*048, allele MICA*049, allele MICA*053, allele MICA*054 and allele MICA*056; reduces binding affinity for KLRK1 6p21.33 6 31411200 A null M V 152 152 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs72558175 6p21.33 6 31412091 T null W L 156 156 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed,gnomAD rs1465390089 6p21.33 6 31412094 T null G V 157 157 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1360840387 6p21.33 6 31412138 T null A S 172 172 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs41554616 6p21.33 6 31412153 G null R G 177 177 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ESP,ExAC,TOPMed,gnomAD rs377047105 6p21.33 6 31412195 A null G R 191 191 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1051794 [UniProt]: allele MICA*004, allele MICA*006, allele MICA*008, allele MICA*009, allele MICA*010, allele MICA*013, allele MICA*014, allele MICA*016, allele MICA*019, allele MICA*022, allele MICA*024, allele MICA*027, allele MICA*028, allele MICA*033, allele MICA*036, allele MICA*044, allele MICA*048, allele MICA*049, allele MICA*053, allele MICA*054 and allele MICA*056 6p21.33 6 31411332 A null K E 196 196 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1131896 [UniProt]: allele MICA*004, allele MICA*006, allele MICA*009, allele MICA*010, allele MICA*016, allele MICA*019, allele MICA*031, allele MICA*033, allele MICA*036, allele MICA*044, allele MICA*049, allele MICA*054 and allele MICA*056 6p21.33 6 31411338 A null G S 198 198 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs41549718 [UniProt]: allele MICA*006 6p21.33 6 31411341 A null V I 199 199 0.00196232 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1131897 [UniProt]: allele MICA*004, allele MICA*014, allele MICA*032 and allele MICA*044 6p21.33 6 31411357 G null T R 204 204 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A Ensembl rs201198334 6p21.33 6 31412369 G null S A 216 216 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs199843678 6p21.33 6 31412376 C null V A 218 218 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A dbSNP rs41293539 6p21.33 6 31412384_31412385insCTGCTGCT T null A null 220 220 frameshift 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A dbSNP rs138201170 6p21.33 6 31412381GCTG ] null G null 221 221 frameshift 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A Ensembl rs1582684002 6p21.33 6 31412384 T null G C 221 221 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1321500864 6p21.33 6 31412394 G null Y C 224 224 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs1131898 [UniProt]: allele MICA*004, allele MICA*005, allele MICA*006, allele MICA*008, allele MICA*009, allele MICA*010, allele MICA*016, allele MICA*019, allele MICA*022, allele MICA*024, allele MICA*027, allele MICA*033, allele MICA*034, allele MICA*035, allele MICA*037, allele MICA*038, allele MICA*039, allele MICA*042, allele MICA*044, allele MICA*048, allele MICA*049, allele MICA*053, allele MICA*054 and allele MICA*056 6p21.33 6 31412018 G null G S 229 229 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs41546915 [UniProt]: allele MICA*046 6p21.33 6 31412025 G null Y C 231 231 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs41554412 6p21.33 6 31412417 C null C R 232 232 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61738275 6p21.33 6 31412421 T null P L 233 233 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs1051798 [UniProt]: allele MICA*004, allele MICA*005, allele MICA*006, allele MICA*008, allele MICA*009, allele MICA*010, allele MICA*016, allele MICA*019, allele MICA*022, allele MICA*024, allele MICA*027, allele MICA*033, allele MICA*034, allele MICA*035, allele MICA*037, allele MICA*038, allele MICA*039, allele MICA*042, allele MICA*044, allele MICA*048, allele MICA*049, allele MICA*053, allele MICA*054 and allele MICA*056 6p21.33 6 31412030 T null W R 233 233 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs1140700 [UniProt]: allele MICA*008, allele MICA*010, allele MICA*016, allele MICA*019, allele MICA*022, allele MICA*027, allele MICA*033, allele MICA*035, allele MICA*037, allele MICA*039, allele MICA*042, allele MICA*048, allele MICA*053, allele MICA*054 and allele MICA*056 6p21.33 6 31412040 C null T I 236 236 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs1051799 [UniProt]: allele MICA*004, allele MICA*006, allele MICA*008, allele MICA*009, allele MICA*010, allele MICA*016, allele MICA*019, allele MICA*022, allele MICA*024, allele MICA*027, allele MICA*033, allele MICA*034, allele MICA*035, allele MICA*037, allele MICA*038, allele MICA*039, allele MICA*042, allele MICA*044, allele MICA*048, allele MICA*049, allele MICA*053, allele MICA*054 and allele MICA*056 6p21.33 6 31412046 G null S T 238 238 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs41540613 [UniProt]: allele MICA*016 and allele MICA*039 6p21.33 6 31412063 C null V L 244 244 missense 1 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs1063635 [UniProt]: allele MICA*005, allele MICA*008, allele MICA*010, allele MICA*013, allele MICA*016, allele MICA*019, allele MICA*022, allele MICA*027, allele MICA*033, allele MICA*035, allele MICA*037, allele MICA*039, allele MICA*042, allele MICA*045, allele MICA*048, allele MICA*053, allele MICA*054 and allele MICA*056 6p21.33 6 31412154 A null Q R 274 274 missense 1 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1319149092 6p22.1 6 28271926 G null T A 3 3 missense 0.005 benign 0.21 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1334683237 6p22.1 6 28271934 C null L F 5 5 missense 0.147 benign 0.71 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs1761702425 6p22.1 6 28271933 C null L S 5 5 missense 0.003 benign 0.58 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1561873976 6p22.1 6 28271935 T null V L 6 6 missense 0.027 benign 0.34 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1761703065 6p22.1 6 28271938 T null S C 7 7 missense 0.027 benign 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs896465645 6p22.1 6 28271942 T null A V 8 8 missense 0.007 benign 0.28 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1356948986 6p22.1 6 28271948 A null S Y 10 10 missense 0.081 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1273703535 6p22.1 6 28271959 G null L V 14 14 missense 0.005 benign 0.33 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1365115805 6p22.1 6 28271962 C null N H 15 15 missense 0.249 benign 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs76463649 6p22.1 6 28271963 G null N S 15 15 missense 0.081 benign 0.15 tolerated 1 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1581610223 6p22.1 6 28271966 C null L P 16 16 missense 0.165 benign 0.36 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs773854446 6p22.1 6 28271972 G null K R 18 18 missense 0.039 benign 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1226330246 6p22.1 6 28271984 A null R Q 22 22 missense 0.003 benign 0.36 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1472451396 6p22.1 6 28271983 T null R W 22 22 missense 0.761 possibly damaging 0.21 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1270008484 6p22.1 6 28271986 A null V I 23 23 missense 0.012 benign 0.56 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1342679600 6p22.1 6 28271993 C null R T 25 25 missense 0.012 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1465264735 6p22.1 6 28271996 G null E G 26 26 missense 0.005 benign 0.34 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1581610318 6p22.1 6 28272002 G null H R 28 28 missense 0.093 benign 0.15 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1482360739 6p22.1 6 28272005 G null Y C 29 29 missense 0.0 benign 0.18 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1581610332 6p22.1 6 28272011 T null T I 31 31 missense 0.012 benign 0.04 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1021513786 6p22.1 6 28272019 T null Q * 34 34 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes rs191270314 6p22.1 6 28272020 G null Q R 34 34 0 missense 0.0 benign 0.05 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1761707512 6p22.1 6 28272022 A null G R 35 35 missense 0.015 benign 0.22 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs1761708095 6p22.1 6 28272034 T null Q * 39 39 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1761708350 6p22.1 6 28272036 C null Q H 39 39 missense 0.725 possibly damaging 0.28 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1329825849 6p22.1 6 28272037 A null G R 40 40 missense 0.006 benign 0.09 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1483921628 6p22.1 6 28272041 G null N S 41 41 missense 0.007 benign 0.8 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1761709488 6p22.1 6 28272044 A null S N 42 42 missense 0.02 benign 0.46 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1761709742 6p22.1 6 28272047 G null K R 43 43 missense 0.142 benign 0.65 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1269904774 6p22.1 6 28272052 T null L F 45 45 missense 0.006 benign 0.56 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1430178770 6p22.1 6 28272053 G null L R 45 45 missense 0.02 benign 0.22 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs772386690 6p22.1 6 28272059 G null Q R 47 47 missense 0.031 benign 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1761710385 6p22.1 6 28272061 T null E * 48 48 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs773589771 6p22.1 6 28272064 T null P S 49 49 missense 0.186 benign 0.35 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs761111611 6p22.1 6 28272068 A null L * 50 50 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1323424869 6p22.1 6 28272069 T null L F 50 50 missense 0.073 benign 1.0 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1414889825 6p22.1 6 28272067 A null L M 50 50 missense 0.955 probably damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs761111611 6p22.1 6 28272068 C null L S 50 50 missense 0.292 benign 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs761111611 6p22.1 6 28272068 G null L W 50 50 missense 0.966 probably damaging 0.05 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1191121043 6p22.1 6 28272076 G null Q E 53 53 missense 0.122 benign 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1437910002 6p22.1 6 28272078 T null Q H 53 53 missense 0.018 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ExAC,TOPMed,gnomAD rs563307562 6p22.1 6 28272080 A null F Y 54 54 0.000392465 missense 0.927 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ExAC,TOPMed,gnomAD rs574074069 6p22.1 6 28272090 T null L F 57 57 0.000196232 missense 0.01 benign 0.89 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ESP,ExAC,gnomAD rs369207761 6p22.1 6 28272091 T null R C 58 58 missense 0.01 benign 0.3 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ExAC,TOPMed,gnomAD rs543136888 6p22.1 6 28272092 A null R H 58 58 missense 0.023 benign 0.24 tolerated 1 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs892204811 6p22.1 6 28272096 A null Y * 59 59 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs16893892 6p22.1 6 28272095 G null Y C 59 59 missense 1 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs16893892 6p22.1 6 28272095 C null Y S 59 59 missense 0.38 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ESP,ExAC,TOPMed,gnomAD rs375716851 6p22.1 6 28272104 A null T N 62 62 missense 0.161 benign 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1255704499 6p22.1 6 28272115 T null R * 66 66 missense 1 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs768841058 6p22.1 6 28272116 C null R P 66 66 missense 0.041 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs768841058 6p22.1 6 28272116 A null R Q 66 66 missense 0.042 benign 0.04 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1482834474 6p22.1 6 28272120 T null E D 67 67 missense 0.094 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1269954459 6p22.1 6 28272118 A null E K 67 67 missense 0.03 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs776538749 6p22.1 6 28272121 A null A T 68 68 missense 0.049 benign 0.04 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1382967879 6p22.1 6 28272128 A null S N 70 70 missense 0.003 benign 0.37 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs750252089 6p22.1 6 28272130 G null R G 71 71 missense 0.021 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs779844501 6p22.1 6 28272131 A null R Q 71 71 missense 0.0 benign 0.56 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs750252089 6p22.1 6 28272130 T null R W 71 71 missense 0.005 benign 0.03 deleterious 1 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1412242832 6p22.1 6 28272133 A null L I 72 72 missense 0.127 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1761716127 6p22.1 6 28272134 C null L P 72 72 missense 0.127 benign 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ExAC,TOPMed,gnomAD rs11965538 6p22.1 6 28272137 T null R L 73 73 missense 0.051 benign 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs11965538 6p22.1 6 28272137 A null R Q 73 73 missense 1 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs749299020 6p22.1 6 28272136 T null R W 73 73 missense 0.191 benign 0.17 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs1311532031 6p22.1 6 28272141 T null E D 74 74 missense 0.063 benign 0.08 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs770232910 6p22.1 6 28272139 A null E K 74 74 missense 0.007 benign 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1228633845 6p22.1 6 28272142 T null L F 75 75 missense 0.511 possibly damaging 0.12 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1228633845 6p22.1 6 28272142 A null L I 75 75 missense 0.044 benign 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC rs747750846 6p22.1 6 28272148 A null Q K 77 77 missense 0.0 benign 0.86 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1446941711 6p22.1 6 28272153 T null Q H 78 78 missense 0.035 benign 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ExAC,gnomAD rs113269107 6p22.1 6 28272152 T null Q L 78 78 0.000196232 missense 0.015 benign 0.1 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ExAC,gnomAD rs113269107 6p22.1 6 28272152 G null Q R 78 78 0.000196232 missense 0.001 benign 0.17 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs868069968 6p22.1 6 28272154 G null W G 79 79 missense 0.001 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs74775964 6p22.1 6 28272157 G null L V 80 80 missense 0.068 benign 0.0 deleterious 1 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs747366919 6p22.1 6 28272160 T null Q * 81 81 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs760126834 6p22.1 6 28272162 T null Q H 81 81 missense 0.0 benign 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs747366919 6p22.1 6 28272160 A null Q K 81 81 missense 0.0 benign 0.07 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs776978602 6p22.1 6 28272161 C null Q P 81 81 missense 0.0 benign 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs775730777 6p22.1 6 28272164 G null P R 82 82 missense 0.988 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs765187169 6p22.1 6 28272163 T null P S 82 82 missense 0.988 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs765187169 6p22.1 6 28272163 A null P T 82 82 missense 0.988 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs11965542 6p22.1 6 28272166 T null E * 83 83 0.0355181 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs755843745 6p22.1 6 28272167 C null E A 83 83 missense 0.903 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs766238252 6p22.1 6 28272168 C null E D 83 83 missense 0.357 benign 0.2 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs11965542 6p22.1 6 28272166 A null E K 83 83 0.0355181 missense 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs11965542 6p22.1 6 28272166 C null E Q 83 83 0.0355181 missense 0.969 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs1761721827 6p22.1 6 28272184 G null Q E 89 89 missense 0.926 probably damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1313601989 6p22.1 6 28272191 C null L P 91 91 missense 0.047 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1427190708 6p22.1 6 28272193 T null E * 92 92 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs778337779 6p22.1 6 28272197 C null L P 93 93 missense 0.533 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs898532505 6p22.1 6 28272209 G null E G 97 97 missense 0.971 probably damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1396752436 6p22.1 6 28272208 C null E Q 97 97 missense 0.982 probably damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs757970390 6p22.1 6 28272215 C null F S 99 99 missense 0.659 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1453320687 6p22.1 6 28272224 A null I N 102 102 missense 0.969 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs1761723346 6p22.1 6 28272226 G null L V 103 103 missense 0.619 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1296735608 6p22.1 6 28272229 T null P S 104 104 missense 0.982 probably damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs777388998 6p22.1 6 28272235 A null E K 106 106 missense 0.021 benign 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1761724308 6p22.1 6 28272241 T null Q * 108 108 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs781641665 6p22.1 6 28272244 T null A S 109 109 missense 0.047 benign 0.17 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ExAC,TOPMed,gnomAD rs550613662 6p22.1 6 28272247 G null R G 110 110 missense 0.005 benign 0.09 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs770434648 6p22.1 6 28272248 C null R P 110 110 missense 0.013 benign 0.1 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs770434648 6p22.1 6 28272248 A null R Q 110 110 missense 0.0 benign 0.34 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ExAC,TOPMed,gnomAD rs550613662 6p22.1 6 28272247 T null R W 110 110 missense 0.001 benign 0.69 tolerated 1 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1204868757 6p22.1 6 28272250 A null V M 111 111 missense 0.015 benign 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1447195862 6p22.1 6 28272260 G null H R 114 114 missense 0.224 benign 0.21 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1247888029 6p22.1 6 28272259 T null H Y 114 114 missense 0.159 benign 0.05 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1194691492 6p22.1 6 28272262 A null H N 115 115 missense 0.006 benign 0.18 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1373332765 6p22.1 6 28272263 G null H R 115 115 missense 0.003 benign 0.23 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs1761726559 6p22.1 6 28272271 G null S G 118 118 missense 0.216 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs973247145 6p22.1 6 28272272 A null S N 118 118 missense 0.012 benign 0.13 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs766725810 6p22.1 6 28272275 A null R K 119 119 missense 0.0 benign 0.04 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1477480016 6p22.1 6 28272277 A null E K 120 120 missense 0.395 benign 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1761727315 6p22.1 6 28272280 C null D H 121 121 missense 0.852 possibly damaging 0.06 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs776209508 6p22.1 6 28272283 A null V M 122 122 missense 0.034 benign 0.09 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1761728097 6p22.1 6 28272286 C null V L 123 123 missense 0.309 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs2113718582 6p22.1 6 28272300 T null E D 127 127 missense 0.964 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ExAC,TOPMed,gnomAD rs145722921 6p22.1 6 28272314 T null D V 132 132 0.00117739 missense 0.023 benign 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1431937939 6p22.1 6 28272313 T null D Y 132 132 missense 0.67 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs766041260 6p22.1 6 28272317 C null L P 133 133 missense 0.007 benign 0.13 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1273231589 6p22.1 6 28272319 A null G R 134 134 missense 0.975 probably damaging 0.22 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ExAC,TOPMed,gnomAD rs180736887 6p22.1 6 28272323 T null E V 135 135 0.000196232 missense 0.286 benign 0.07 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1761729988 6p22.1 6 28272325 G null T A 136 136 missense 0.0 benign 0.37 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs1478379688 6p22.1 6 28272326 T null T I 136 136 missense 0.053 benign 0.04 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ExAC,TOPMed,gnomAD rs546712749 6p22.1 6 28272328 A null G R 137 137 0.000196232 missense 0.928 probably damaging 0.04 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1468282604 6p22.1 6 28272332 C null Q P 138 138 missense 0.356 benign 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1200942391 6p22.1 6 28272334 T null Q * 139 139 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1200942391 6p22.1 6 28272334 A null Q K 139 139 missense 0.899 possibly damaging 0.11 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs765154187 6p22.1 6 28272335 G null Q R 139 139 missense 0.925 probably damaging 0.05 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1581611953 6p22.1 6 28272671 C null D A 141 141 missense 0.006 benign 0.23 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes rs565447272 6p22.1 6 28272673 A null P T 142 142 0.000196232 missense 0.316 benign 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1581611978 6p22.1 6 28272677 C null D A 143 143 missense 0.003 benign 0.91 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1405979140 6p22.1 6 28272683 G null P R 145 145 missense 0.0 benign 0.27 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs781349770 6p22.1 6 28272682 T null P S 145 145 missense 0.0 benign 0.28 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1561875056 6p22.1 6 28272685 G null K E 146 146 missense 0.006 benign 0.86 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373814822 6p22.1 6 28272691 T null Q * 148 148 0.000392465 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs1055142132 6p22.1 6 28272697 T null I L 150 150 missense 0.0 benign 0.4 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1288090850 6p22.1 6 28272699 G null I M 150 150 missense 0.0 benign 0.46 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs1055142132 6p22.1 6 28272697 G null I V 150 150 missense 0.0 benign 1.0 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1327466681 6p22.1 6 28272700 T null L F 151 151 missense 0.013 benign 0.55 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs780687737 6p22.1 6 28272704 C null V A 152 152 missense 0.062 benign 0.61 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1229225509 6p22.1 6 28272703 A null V M 152 152 missense 0.023 benign 0.28 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs749854697 6p22.1 6 28272709 A null E K 154 154 missense 0.003 benign 0.31 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs1761751197 6p22.1 6 28272716 T null A V 156 156 missense 0.369 benign 0.42 tolerated 1 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs768817534 6p22.1 6 28272719 T null P L 157 157 missense 0.574 possibly damaging 0.07 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs768817534 6p22.1 6 28272719 G null P R 157 157 missense 0.797 possibly damaging 0.05 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs918001391 6p22.1 6 28272718 T null P S 157 157 missense 0.449 possibly damaging 0.18 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1581612148 6p22.1 6 28272722 C null L P 158 158 missense 0.003 benign 0.18 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1490404089 6p22.1 6 28272724 G null K E 159 159 missense 0.001 benign 0.64 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1180939405 6p22.1 6 28272725 G null K R 159 159 missense 0.001 benign 0.42 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1249385868 6p22.1 6 28272728 A null G E 160 160 missense 0.0 benign 0.39 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1420582393 6p22.1 6 28272734 C null Q P 162 162 missense 0.001 benign 0.12 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC rs774513249 6p22.1 6 28272741 T null Q H 164 164 missense 0.381 benign 0.11 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1182453748 6p22.1 6 28272744 T null Q H 165 165 missense 0.471 possibly damaging 0.09 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1367805303 6p22.1 6 28272745 T null V F 166 166 missense 0.015 benign 0.06 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370023717 6p22.1 6 28272749 A null R Q 167 167 missense 0.0 benign 0.85 tolerated 1 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs187327081 6p22.1 6 28272748 T null R W 167 167 missense 0.0 benign 0.01 deleterious 1 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1367743417 6p22.1 6 28272754 A null E K 169 169 missense 0.014 benign 0.29 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs773372053 6p22.1 6 28272757 C null C R 170 170 missense 0.007 benign 0.37 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1581612314 6p22.1 6 28272767 T null T I 173 173 missense 0.038 benign 0.18 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs2113719898 6p22.1 6 28272769 G null K E 174 174 missense 0.0 benign 0.43 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1393444678 6p22.1 6 28272773 T null P L 175 175 missense 0.024 benign 0.07 tolerated 1 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1308413814 6p22.1 6 28272776 G null E G 176 176 missense 0.322 benign 0.2 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs375096577 6p22.1 6 28272775 C null E Q 176 176 missense 0.02 benign 0.36 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs752598872 6p22.1 6 28272786 T null K N 179 179 missense 0.053 benign 0.17 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ExAC,gnomAD rs569301192 6p22.1 6 28276195 A null G D 180 180 0.000588697 missense 0.037 benign 0.26 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ExAC,gnomAD rs569301192 6p22.1 6 28276195 T null G V 180 180 0.000588697 missense 0.923 probably damaging 0.07 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199612523 6p22.1 6 28276201 G null E G 182 182 0.000196232 missense 0.009 benign 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs762817558 6p22.1 6 28276204 A null T K 183 183 missense 0.003 benign 0.17 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs775281774 6p22.1 6 28276203 T null T S 183 183 missense 0.057 benign 0.28 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs2113727715 6p22.1 6 28276206 G null R G 184 184 missense 0.003 benign 0.18 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1430539981 6p22.1 6 28276207 C null R T 184 184 missense 0.124 benign 0.09 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1218300935 6p22.1 6 28276209 T null I F 185 185 missense 0.039 benign 0.69 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1761923483 6p22.1 6 28276210 C null I T 185 185 missense 0.0 benign 0.62 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ESP,ExAC,TOPMed,gnomAD rs200703885 6p22.1 6 28276213 C null E A 186 186 missense 0.003 benign 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs1761924109 6p22.1 6 28276215 G null N D 187 187 missense 0.459 possibly damaging 0.07 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1761924369 6p22.1 6 28276216 T null N I 187 187 missense 0.749 possibly damaging 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs774216204 6p22.1 6 28276218 A null G R 188 188 missense 0.007 benign 0.21 tolerated 1 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ExAC,TOPMed,gnomAD rs189868497 6p22.1 6 28276221 C null K Q 189 189 0.000196232 missense 0.123 benign 0.21 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ExAC,TOPMed,gnomAD rs568537725 6p22.1 6 28276228 C null I T 191 191 0.000196232 missense 0.0 benign 0.13 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1761925561 6p22.1 6 28276227 G null I V 191 191 missense 0.0 benign 1.0 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1433764176 6p22.1 6 28276234 A null V E 193 193 missense 0.0 benign 1.0 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs2113727888 6p22.1 6 28276233 A null V I 193 193 missense 0.067 benign 0.21 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1761926618 6p22.1 6 28276241 G null D E 195 195 missense 0.003 benign 0.34 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146128238 6p22.1 6 28276246 C null C S 197 197 0.000196232 missense 0.001 benign 0.7 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs952614092 6p22.1 6 28276249 C null G A 198 198 missense 0.053 benign 0.25 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs766792794 6p22.1 6 28276267 A null G E 204 204 missense 0.244 benign 0.24 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs755854753 6p22.1 6 28276266 T null G W 204 204 missense 0.637 possibly damaging 0.04 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1473585519 6p22.1 6 28276272 T null I L 206 206 missense 0.007 benign 0.4 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1168244537 6p22.1 6 28276273 C null I T 206 206 missense 0.001 benign 0.55 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ExAC,TOPMed,gnomAD rs553908256 6p22.1 6 28276275 C null S P 207 207 0.000392465 missense 0.001 benign 0.17 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ExAC,TOPMed,gnomAD rs577137594 6p22.1 6 28276285 G null M R 210 210 0.000196232 missense 0.0 benign 0.66 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ExAC,TOPMed,gnomAD rs577137594 6p22.1 6 28276285 C null M T 210 210 0.000196232 missense 0.0 benign 0.74 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1240457295 6p22.1 6 28276290 A null A T 212 212 missense 0.003 benign 0.55 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1761928899 6p22.1 6 28276291 T null A V 212 212 missense 0.003 benign 0.33 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1187340325 6p22.1 6 28276302 A null G S 216 216 missense 0.042 benign 0.45 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1266922752 6p22.1 6 28276303 T null G V 216 216 missense 0.114 benign 0.14 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1761929898 6p22.1 6 28276308 T null N Y 218 218 missense 0.132 benign 0.15 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 dbSNP,gnomAD rs17851075 pubmed:15489334 6p22.1 6 28276319 T null R S 220 220 missense 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs1761930200 6p22.1 6 28276315 T null E V 220 220 missense 0.292 benign 0.11 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs944512250 6p22.1 6 28276317 G null R G 221 221 missense 0.304 benign 0.06 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1761930691 6p22.1 6 28276318 A null R K 221 221 missense 0.007 benign 0.21 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1761931166 6p22.1 6 28276321 C null H P 222 222 missense 0.0 benign 0.04 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs747182472 6p22.1 6 28276323 T null Q * 223 223 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs747182472 6p22.1 6 28276323 G null Q E 223 223 missense 0.158 benign 0.05 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs771150743 6p22.1 6 28276329 C null K Q 225 225 missense 0.132 benign 0.29 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC rs775197115 6p22.1 6 28276332 G null P A 226 226 missense 0.02 benign 0.18 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs749075793 6p22.1 6 28276333 A null P H 226 226 missense 0.796 possibly damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs749075793 6p22.1 6 28276333 T null P L 226 226 missense 0.01 benign 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC rs775197115 6p22.1 6 28276332 T null P S 226 226 missense 0.174 benign 0.15 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs774317111 6p22.1 6 28276344 T null I F 230 230 missense 0.042 benign 0.05 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1040507789 6p22.1 6 28276345 C null I T 230 230 missense 0.0 benign 0.98 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs761691188 6p22.1 6 28276351 G null Y C 232 232 missense 0.005 benign 0.16 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1761932932 6p22.1 6 28276357 A null C Y 234 234 missense 0.784 possibly damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs767007169 6p22.1 6 28276360 T null S L 235 235 missense 0.0 benign 0.18 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1481891438 6p22.1 6 28276359 C null S P 235 235 missense 0.351 benign 0.16 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ExAC,TOPMed,gnomAD rs539718240 6p22.1 6 28276365 T null R C 237 237 0.000784929 missense 0.0 benign 1.0 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376872529 6p22.1 6 28276366 A null R H 237 237 0.000196232 missense 0.054 benign 0.12 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376872529 6p22.1 6 28276366 T null R L 237 237 0.000196232 missense 0.007 benign 0.1 tolerated 1 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ESP,TOPMed rs370280420 6p22.1 6 28276379 G null F L 241 241 missense 0.009 benign 0.12 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs766126680 6p22.1 6 28276380 T null I F 242 242 missense 0.001 benign 0.29 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs755346099 6p22.1 6 28276382 G null I M 242 242 missense 0.01 benign 0.2 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs766126680 6p22.1 6 28276380 G null I V 242 242 missense 0.001 benign 0.51 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs765558461 6p22.1 6 28276384 G null Q R 243 243 missense 0.006 benign 0.04 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs753207556 6p22.1 6 28276388 G null H Q 244 244 missense 0.062 benign 0.08 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1270093146 6p22.1 6 28276396 G null L R 247 247 missense 0.098 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1472431391 6p22.1 6 28276399 C null I T 248 248 missense 0.0 benign 0.62 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs758848192 6p22.1 6 28276408 A null A E 251 251 missense 0.0 benign 1.0 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1410788849 6p22.1 6 28276410 G null S G 252 252 missense 0.0 benign 0.52 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs777847322 6p22.1 6 28276411 A null S N 252 252 missense 0.058 benign 0.29 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ESP,TOPMed,gnomAD rs374449641 6p22.1 6 28276416 T null H Y 254 254 missense 0.683 possibly damaging 0.06 tolerated 1 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs779221996 6p22.1 6 28276420 T null T M 255 255 missense 0.009 benign 0.15 tolerated 1 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ESP,ExAC,gnomAD rs368592837 6p22.1 6 28276427 T null K N 257 257 missense 0.037 benign 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs746130804 6p22.1 6 28276429 C null K T 258 258 missense 0.015 benign 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1761937895 6p22.1 6 28276432 G null L R 259 259 missense 0.397 benign 0.35 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1373924685 6p22.1 6 28276434 G null C G 260 260 missense 0.129 benign 0.23 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs569619601 6p22.1 6 28276437 T null E * 261 261 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs569619601 6p22.1 6 28276437 A null E K 261 261 missense 0.173 benign 0.38 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs569619601 6p22.1 6 28276437 C null E Q 261 261 missense 0.356 benign 0.48 tolerated 1 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs1761938616 6p22.1 6 28276445 A null D E 263 263 missense 0.0 benign 0.92 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1761938468 6p22.1 6 28276443 C null D H 263 263 missense 0.213 benign 0.04 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs778598171 6p22.1 6 28276446 A null V M 264 264 missense 0.339 benign 0.07 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1049068112 6p22.1 6 28276450 A null C Y 265 265 missense 0.001 benign 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1178502424 6p22.1 6 28276452 T null Q * 266 266 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1178502424 6p22.1 6 28276452 A null Q K 266 266 missense 0.319 benign 0.61 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1561877947 6p22.1 6 28276459 T null S F 268 268 missense 0.339 benign 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC rs771907693 6p22.1 6 28276461 C null S R 269 269 missense 0.05 benign 0.25 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1482967681 6p22.1 6 28276467 G null T A 271 271 missense 0.003 benign 0.48 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs746385615 6p22.1 6 28276468 T null T I 271 271 missense 0.014 benign 0.64 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs770612647 6p22.1 6 28276471 A null G E 272 272 missense 0.015 benign 1.0 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1581618587 6p22.1 6 28276470 A null G R 272 272 missense 0.017 benign 0.52 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs770612647 6p22.1 6 28276471 T null G V 272 272 missense 0.521 possibly damaging 0.27 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs1261429772 6p22.1 6 28276474 G null H R 273 273 missense 0.031 benign 0.13 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1181743009 6p22.1 6 28276473 T null H Y 273 273 missense 0.006 benign 0.05 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs1761941401 6p22.1 6 28276476 G null K E 274 274 missense 0.015 benign 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs776390277 6p22.1 6 28276479 G null K E 275 275 missense 0.003 benign 0.23 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1163889892 6p22.1 6 28276482 T null V F 276 276 missense 0.254 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1561878044 6p22.1 6 28276489 T null S F 278 278 missense 0.237 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC rs759142165 6p22.1 6 28276492 T null R I 279 279 missense 0.376 benign 0.04 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1056414076 6p22.1 6 28276496 C null E D 280 280 missense 0.001 benign 0.13 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs765588169 6p22.1 6 28276501 A null G D 282 282 missense 0.871 possibly damaging 0.09 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs765588169 6p22.1 6 28276501 T null G V 282 282 missense 0.871 possibly damaging 0.15 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1354850025 6p22.1 6 28276503 G null H D 283 283 missense 0.798 possibly damaging 0.01 deleterious 1 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs907404144 6p22.1 6 28276509 C null C R 285 285 missense 0.834 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1761944227 6p22.1 6 28276510 A null C Y 285 285 missense 0.946 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs764578564 6p22.1 6 28276513 T null H L 286 286 missense 0.006 benign 0.19 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1312747183 6p22.1 6 28276512 A null H N 286 286 missense 0.0 benign 0.44 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs764578564 6p22.1 6 28276513 G null H R 286 286 missense 0.006 benign 0.17 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs752116217 6p22.1 6 28276515 A null E K 287 287 missense 0.095 benign 0.07 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1272679128 6p22.1 6 28276519 A null C Y 288 288 missense 0.848 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs772381255 6p22.1 6 28276525 G null K R 290 290 missense 0.19 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs947540640 6p22.1 6 28276528 G null A G 291 291 missense 0.009 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,dbSNP,dbSNP,gnomAD rs1484160993 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 6p22.1 6 28276533 T null Q * 293 293 missense 1 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs757299852 6p22.1 6 28276535 C null Q H 293 293 missense 0.866 possibly damaging 0.07 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1484160993 6p22.1 6 28276533 A null Q K 293 293 missense 0.551 possibly damaging 0.36 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1338950214 6p22.1 6 28276534 G null Q R 293 293 missense 0.651 possibly damaging 0.27 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1275582262 6p22.1 6 28276537 A null R K 294 294 missense 0.725 possibly damaging 0.05 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1275582262 6p22.1 6 28276537 T null R M 294 294 missense 0.578 possibly damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1289034206 6p22.1 6 28276538 C null R S 294 294 missense 0.855 possibly damaging 0.07 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs750598932 6p22.1 6 28276545 T null H Y 297 297 missense 0.023 benign 0.18 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ESP,ExAC,TOPMed,gnomAD rs368346312 6p22.1 6 28276551 A null V I 299 299 missense 0.0 benign 0.85 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs747892291 6p22.1 6 28276555 T null R I 300 300 missense 0.323 benign 0.09 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs747892291 6p22.1 6 28276555 C null R T 300 300 missense 0.117 benign 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs1185830247 6p22.1 6 28276560 T null Q * 302 302 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1761947820 6p22.1 6 28276561 C null Q P 302 302 missense 0.923 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1389217837 6p22.1 6 28276563 G null K E 303 303 missense 0.047 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs1442166284 6p22.1 6 28276570 T null H L 305 305 missense 0.402 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs547687161 6p22.1 6 28276584 G null P A 310 310 missense 0.786 possibly damaging 0.25 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs547687161 6p22.1 6 28276584 A null P T 310 310 missense 0.245 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1419968924 6p22.1 6 28276588 G null Y C 311 311 missense 0.868 possibly damaging 0.19 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1761948961 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p22.1 6 28276593 A null C S 313 313 missense 0.993 probably damaging 0.0 deleterious 1 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs777833357 6p22.1 6 28276594 A null C Y 313 313 missense 0.968 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1761949288 6p22.1 6 28276597 G null N S 314 314 missense 0.003 benign 0.28 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs2113729361 6p22.1 6 28276596 T null N Y 314 314 missense 0.036 benign 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs1761949585 6p22.1 6 28276601 C null E D 315 315 missense 0.022 benign 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1761949882 6p22.1 6 28276603 A null C Y 316 316 missense 0.929 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs1761950053 6p22.1 6 28276606 A null G D 317 317 missense 0.582 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs746981982 6p22.1 6 28276611 A null V I 319 319 missense 0.068 benign 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs902930746 6p22.1 6 28276629 A null G S 325 325 missense 0.019 benign 0.06 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs2113729494 6p22.1 6 28276632 T null L F 326 326 missense 0.471 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs1360021158 6p22.1 6 28276636 C null L S 327 327 missense 0.285 benign 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1256873588 6p22.1 6 28276638 A null E K 328 328 missense 0.003 benign 1.0 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,TOPMed,gnomAD rs180863059 6p22.1 6 28276642 G null H R 329 329 missense 0.879 possibly damaging 0.0 deleterious 1 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs1761952167 6p22.1 6 28276641 T null H Y 329 329 missense 0.918 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1223252887 6p22.1 6 28276652 G null I M 332 332 missense 0.583 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1021998871 6p22.1 6 28276650 G null I V 332 332 missense 0.183 benign 0.04 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1761953034 6p22.1 6 28276666 T null K I 337 337 missense 0.987 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1261889900 6p22.1 6 28276668 A null P T 338 338 missense 0.579 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1326263902 6p22.1 6 28276672 T null Y F 339 339 missense 0.116 benign 0.11 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1444738172 6p22.1 6 28276677 G null C G 341 341 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1444738172 6p22.1 6 28276677 C null C R 341 341 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs1761954552 6p22.1 6 28276689 A null G R 345 345 missense 0.604 possibly damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ExAC,gnomAD rs541804397 6p22.1 6 28276700 G null F L 348 348 0.000196232 missense 0.922 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1477596965 6p22.1 6 28276698 C null F L 348 348 missense 0.922 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1431427935 6p22.1 6 28276704 T null R C 350 350 missense 0.535 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs769331933 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p22.1 6 28276705 A null R H 350 350 missense 0.019 benign 0.21 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1158243219 6p22.1 6 28276711 T null S F 352 352 missense 0.723 possibly damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1761955666 6p22.1 6 28276717 C null L P 354 354 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,dbSNP,dbSNP,gnomAD rs775277786 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 6p22.1 6 28276722 T null R * 356 356 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 dbSNP,dbSNP,gnomAD rs1380586793 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p22.1 6 28276723 A null R Q 356 356 missense 0.015 benign 0.17 tolerated 1 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1393557337 6p22.1 6 28276726 C null H P 357 357 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1393557337 6p22.1 6 28276726 G null H R 357 357 missense 0.99 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1320582740 6p22.1 6 28276725 T null H Y 357 357 missense 0.889 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs763210427 6p22.1 6 28276728 T null Q * 358 358 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs763210427 6p22.1 6 28276728 G null Q E 358 358 missense 0.042 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,gnomAD rs186064877 6p22.1 6 28276732 T null R I 359 359 missense 0.473 possibly damaging 0.0 deleterious 1 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,gnomAD rs186064877 6p22.1 6 28276732 A null R K 359 359 missense 0.085 benign 0.14 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs762334316 6p22.1 6 28276743 T null Q * 363 363 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs750473713 6p22.1 6 28276753 T null P L 366 366 missense 0.785 possibly damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1490079998 6p22.1 6 28276762 T null C F 369 369 missense 0.996 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1490079998 6p22.1 6 28276762 A null C Y 369 369 missense 0.986 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1761959601 6p22.1 6 28276765 G null K R 370 370 missense 0.068 benign 0.12 tolerated 1 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs766499284 6p22.1 6 28276771 A null C Y 372 372 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs754141333 6p22.1 6 28276776 G null K E 374 374 missense 0.916 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ExAC,TOPMed,gnomAD rs572064531 6p22.1 6 28276777 G null K R 374 374 0.000392465 missense 0.474 possibly damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1361968542 6p22.1 6 28276780 G null T S 375 375 missense 0.003 benign 0.23 tolerated 1 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1160361770 6p22.1 6 28276789 G null Q R 378 378 missense 0.0 benign 0.19 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1040705439 6p22.1 6 28276792 G null A G 379 379 missense 0.007 benign 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs757273930 6p22.1 6 28276798 G null L R 381 381 missense 0.937 probably damaging 0.34 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs559424010 6p22.1 6 28276800 T null L F 382 382 missense 0.037 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1554136247 6p22.1 6 28276807 C null H P 384 384 missense 0.003 benign 0.11 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs2113730157 6p22.1 6 28276806 T null H Y 384 384 missense 0.001 benign 0.4 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1306962810 6p22.1 6 28276810 G null H R 385 385 missense 0.879 possibly damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1223357353 6p22.1 6 28276809 T null H Y 385 385 missense 0.956 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1334503478 6p22.1 6 28276812 T null Q * 386 386 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 dbSNP,dbSNP,gnomAD rs1240633472 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p22.1 6 28276818 C null I L 388 388 missense 0.063 benign 0.01 deleterious 1 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs1291951498 6p22.1 6 28276819 A null I N 388 388 missense 0.287 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,dbSNP,dbSNP,gnomAD rs780777946 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p22.1 6 28276821 T null H Y 389 389 missense 0.998 probably damaging 0.0 deleterious 1 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs1761963302 6p22.1 6 28276824 G null S G 390 390 missense 0.003 benign 0.12 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ExAC,TOPMed,gnomAD rs540882490 6p22.1 6 28276827 T null H Y 391 391 0.000196232 missense 0.034 benign 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs749003843 6p22.1 6 28276831 T null S F 392 392 missense 0.001 benign 0.04 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs774981495 6p22.1 6 28276830 C null S P 392 392 missense 0.046 benign 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs774981495 6p22.1 6 28276830 A null S T 392 392 missense 0.024 benign 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1195010250 6p22.1 6 28276833 G null K E 393 393 missense 0.534 possibly damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1337921270 6p22.1 6 28276840 G null H R 395 395 missense 0.625 possibly damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1277136348 6p22.1 6 28276843 G null Q R 396 396 missense 0.001 benign 0.51 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs1761965974 6p22.1 6 28276845 C null C R 397 397 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs754428219 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p22.1 6 28276850 A null N K 398 398 missense 0.027 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ExAC,TOPMed,gnomAD rs533137539 6p22.1 6 28276851 T null E * 399 399 0.000392465 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1581619798 6p22.1 6 28276852 C null E A 399 399 missense 0.491 possibly damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ExAC,TOPMed,gnomAD rs533137539 6p22.1 6 28276851 A null E K 399 399 0.000392465 missense 0.095 benign 0.04 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1161957745 6p22.1 6 28276856 A null C * 400 400 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1445210559 6p22.1 6 28276855 T null C F 400 400 missense 0.992 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs768008002 6p22.1 6 28276854 G null C G 400 400 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1445210559 6p22.1 6 28276855 A null C Y 400 400 missense 0.968 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1761967574 6p22.1 6 28276866 G null F V 404 404 missense 0.998 probably damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC rs748384015 6p22.1 6 28276874 T null L F 406 406 missense 0.963 probably damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ESP,TOPMed rs371968394 6p22.1 6 28276884 T null L F 410 410 missense 0.009 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs760650910 6p22.1 6 28276888 C null I T 411 411 missense 0.413 benign 0.04 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1458796800 6p22.1 6 28276890 T null R * 412 412 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1458796800 6p22.1 6 28276890 G null R G 412 412 missense 0.346 benign 0.21 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1297950437 6p22.1 6 28276891 A null R Q 412 412 missense 0.027 benign 0.1 tolerated 1 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,dbSNP,dbSNP,gnomAD rs1397737124 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p22.1 6 28276894 T null H L 413 413 missense 0.99 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC rs766522512 6p22.1 6 28276893 T null H Y 413 413 missense 0.918 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs753965503 6p22.1 6 28276897 G null H R 414 414 missense 0.013 benign 0.09 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs1761969658 6p22.1 6 28276896 T null H Y 414 414 missense 0.047 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1393648227 6p22.1 6 28276900 A null R K 415 415 missense 0.689 possibly damaging 0.06 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1393648227 6p22.1 6 28276900 C null R T 415 415 missense 0.751 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs1761970234 6p22.1 6 28276903 C null I T 416 416 missense 0.273 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1330091762 6p22.1 6 28276905 G null H D 417 417 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1380546768 6p22.1 6 28276906 G null H R 417 417 missense 0.996 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1316803559 6p22.1 6 28276912 A null G E 419 419 missense 0.71 possibly damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs780546859 6p22.1 6 28276911 A null G R 419 419 missense 0.788 possibly damaging 0.04 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1359698133 6p22.1 6 28276925 G null F L 423 423 missense 0.362 benign 0.01 deleterious 1 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs2113730753 6p22.1 6 28276924 C null F S 423 423 missense 0.711 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs763923028 6p22.1 6 28276926 T null K * 424 424 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs763923028 6p22.1 6 28276926 C null K Q 424 424 missense 0.169 benign 0.37 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1761971845 6p22.1 6 28276929 C null C R 425 425 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1249410430 6p22.1 6 28276937 G null I M 427 427 missense 0.031 benign 0.05 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1481470583 6p22.1 6 28276938 C null C R 428 428 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs888320862 6p22.1 6 28276939 C null C S 428 428 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs888320862 6p22.1 6 28276939 A null C Y 428 428 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1242430140 6p22.1 6 28276948 T null A V 431 431 missense 0.289 benign 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs757181763 6p22.1 6 28276953 T null R * 433 433 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ESP,ExAC,TOPMed,gnomAD rs375309268 6p22.1 6 28276954 A null R Q 433 433 missense 0.049 benign 0.14 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1016379009 6p22.1 6 28276960 G null N S 435 435 missense 0.013 benign 0.73 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs779641149 6p22.1 6 28276965 T null H Y 437 437 missense 0.011 benign 0.07 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs748885770 6p22.1 6 28276968 T null L F 438 438 missense 0.549 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs748885770 6p22.1 6 28276968 G null L V 438 438 missense 0.738 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs972112881 6p22.1 6 28276974 T null Q * 440 440 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs972112881 6p22.1 6 28276974 G null Q E 440 440 missense 0.017 benign 0.06 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs537254525 6p22.1 6 28276979 G null H Q 441 441 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1405993380 6p22.1 6 28276978 G null H R 441 441 missense 0.895 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs1761975516 6p22.1 6 28276984 A null R K 443 443 missense 0.377 benign 0.07 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs960276641 6p22.1 6 28276986 G null I V 444 444 missense 0.183 benign 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs991796657 6p22.1 6 28276989 T null H Y 445 445 missense 0.93 probably damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs916143982 6p22.1 6 28276993 T null N I 446 446 missense 0.028 benign 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1381335277 6p22.1 6 28276998 T null E * 448 448 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1381335277 6p22.1 6 28276998 C null E Q 448 448 missense 0.377 benign 0.0 deleterious 1 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1561879457 6p22.1 6 28277005 T null P L 450 450 missense 0.023 benign 0.04 deleterious 1 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs771309593 6p22.1 6 28277008 G null Y C 451 451 missense 0.951 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs909249453 6p22.1 6 28277010 G null Q E 452 452 missense 0.0 benign 1.0 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs1581620389 6p22.1 6 28277012 T null Q H 452 452 missense 0.006 benign 0.04 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1292938543 6p22.1 6 28277011 G null Q R 452 452 missense 0.003 benign 0.24 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1309089563 6p22.1 6 28277017 C null S T 454 454 missense 0.001 benign 0.05 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs774057290 6p22.1 6 28277019 C null E Q 455 455 missense 0.001 benign 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs1761978163 6p22.1 6 28277022 C null C R 456 456 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1262505908 6p22.1 6 28277026 A null G E 457 457 missense 0.123 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1262505908 6p22.1 6 28277026 T null G V 457 457 missense 0.327 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 dbSNP,dbSNP,gnomAD rs1321318811 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p22.1 6 28277028 A null E K 458 458 missense 0.001 benign 1.0 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ESP,ExAC,TOPMed,gnomAD rs371333289 6p22.1 6 28277032 A null A D 459 459 missense 0.303 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ESP,ExAC,TOPMed,gnomAD rs371333289 6p22.1 6 28277032 G null A G 459 459 missense 0.136 benign 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs748499677 6p22.1 6 28277031 A null A T 459 459 missense 0.096 benign 0.1 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs1172047395 6p22.1 6 28277034 G null F V 460 460 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 1000Genomes,ExAC,gnomAD rs116288753 6p22.1 6 28277044 A null R K 463 463 0.000196232 missense 0.018 benign 0.37 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs769518702 6p22.1 6 28277046 G null S A 464 464 missense 0.214 benign 0.07 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs769518702 6p22.1 6 28277046 C null S P 464 464 missense 0.012 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ESP,ExAC,TOPMed,gnomAD rs376665599 6p22.1 6 28277050 A null G D 465 465 missense 0.922 probably damaging 0.23 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1761980141 6p22.1 6 28277049 C null G R 465 465 missense 0.947 probably damaging 0.15 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs1761980470 6p22.1 6 28277052 A null L I 466 466 missense 0.947 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1171820047 6p22.1 6 28277059 G null Q R 468 468 missense 0.882 possibly damaging 0.72 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed,gnomAD rs1468705980 6p22.1 6 28277061 T null H Y 469 469 missense 0.978 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs776785015 6p22.1 6 28277064 T null Q * 470 470 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs529692636 6p22.1 6 28277069 T null R S 471 471 missense 0.999 probably damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,TOPMed,gnomAD rs758411154 6p22.1 6 28277071 p null Y * 472 472 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 TOPMed rs1761982644 6p22.1 6 28277073 T null H Y 473 473 missense 0.961 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 Ensembl rs1761982794 6p22.1 6 28277077 C null H P 474 474 missense 0.903 possibly damaging 0.08 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 ExAC,gnomAD rs765548403 6p22.1 6 28277091 A null A T 479 479 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain containing 26 gnomAD rs1400446345 6p22.1 6 28277095 T null * L 480 480 stop lost 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs867437797 6p21.33 6 31740474 T null S F 3 3 missense 0.183 benign 0.01 deleterious - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs867437797 6p21.33 6 31740474 A null S Y 3 3 missense 0.183 benign 0.0 deleterious - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1400253745 6p21.33 6 31740477 C null L S 4 4 missense 0.01 benign 0.08 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1365883110 6p21.33 6 31740479 A null G R 5 5 missense 0.005 benign 0.13 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs2151329252 6p21.33 6 31740489 T null P L 8 8 missense 0.058 benign 0.16 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1284389608 6p21.33 6 31740492 A null R K 9 9 missense 0.003 benign 0.16 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1328721732 6p21.33 6 31740494 G null R G 10 10 missense 0.0 benign 0.22 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,TOPMed rs543053495 6p21.33 6 31740497 T null T S 11 11 missense 0.026 benign 0.12 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs746002203 6p21.33 6 31740507 A null G E 14 14 missense 0.013 benign 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs2151329319 6p21.33 6 31740512 G null R G 16 16 missense 0.0 benign 0.69 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1244931634 6p21.33 6 31740513 T null R I 16 16 missense 0.001 benign 0.18 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1489451150 6p21.33 6 31740518 C null G R 18 18 missense 0.003 benign 0.2 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs866226534 6p21.33 6 31740522 A null A E 19 19 missense 0.0 benign 0.68 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1199842222 6p21.33 6 31740521 A null A T 19 19 missense 0.015 benign 0.24 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs866226534 6p21.33 6 31740522 T null A V 19 19 missense 0.0 benign 0.12 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs2151329363 6p21.33 6 31740525 A null A D 20 20 missense 0.039 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs2151329363 6p21.33 6 31740525 G null A G 20 20 missense 0.026 benign 0.09 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs2151329363 6p21.33 6 31740525 T null A V 20 20 missense 0.026 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs761833682 6p21.33 6 31740527 G null S A 21 21 missense 0.0 benign 0.2 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs200570010 6p21.33 6 31740528 T null S F 21 21 0.000588697 missense 0.085 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs2151329411 6p21.33 6 31740530 C null S P 22 22 missense 0.0 benign 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1407988417 6p21.33 6 31740531 A null S Y 22 22 missense 0.089 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1323423768 6p21.33 6 31740534 A null G D 23 23 missense 0.015 benign 0.26 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1404277828 6p21.33 6 31740533 C null G R 23 23 missense 0.0 benign 0.24 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1583890224 6p21.33 6 31740536 C null F L 24 24 missense 0.0 benign 0.41 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs773181036 6p21.33 6 31740538 G null F L 24 24 missense 0.0 benign 0.41 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs760382710 6p21.33 6 31740540 T null P L 25 25 missense 0.052 benign 0.1 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs766196782 6p21.33 6 31740543 T null S I 26 26 missense 0.001 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1350316138 6p21.33 6 31740544 G null S R 26 26 missense 0.166 benign 0.05 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1808762815 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31740546 T null P L 27 27 missense 0.003 benign 0.19 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1808762389 6p21.33 6 31740545 T null P S 27 27 missense 0.152 benign 0.11 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1408171782 6p21.33 6 31740548 A null A T 28 28 missense 0.001 benign 0.3 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2075789 [ClinVar]: MSH5-related disorder UniProt:Ref.5 6p21.33 6 31740551 T null P S 29 29 missense 0 MSH5-related disorder ClinVar:RCV003970266 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1242257989 6p21.33 6 31740554 A null V M 30 30 missense 0.006 benign 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs764819567 6p21.33 6 31740558 T null P L 31 31 missense 0.001 benign 0.14 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs764819567 6p21.33 6 31740558 A null P Q 31 31 missense 0.001 benign 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1808766539 6p21.33 6 31740572 A null A T 36 36 missense 0.038 benign 0.21 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1399705967 6p21.33 6 31740575 A null E K 37 37 missense 0.107 benign 0.32 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1018466417 6p21.33 6 31740578 A null E K 38 38 missense 0.039 benign 0.14 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs962405041 6p21.33 6 31740584 A null E K 40 40 missense 0.003 benign 0.05 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,gnomAD rs559101088 6p21.33 6 31740593 T null E * 43 43 missense 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1808769906 6p21.33 6 31740597 T null E V 44 44 missense 0.057 benign 0.07 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1250720922 6p21.33 6 31740600 G null E G 45 45 missense 0.038 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1808772418 6p21.33 6 31740604 C null E D 46 46 missense 0.003 benign 0.55 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1392009363 6p21.33 6 31740602 A null E K 46 46 missense 0.078 benign 0.15 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1456552413 6p21.33 6 31740606 C null L P 47 47 missense 0.0 benign 0.29 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1808773622 6p21.33 6 31740609 G null A G 48 48 missense 0.0 benign 0.11 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1472291367 6p21.33 6 31740613 T null E D 49 49 missense 0.078 benign 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1808774553 6p21.33 6 31740611 A null E K 49 49 missense 0.078 benign 0.05 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs760617988 6p21.33 6 31741167 G null H R 51 51 missense 0.078 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1444725613 6p21.33 6 31741170 A null L Q 52 52 missense 0.501 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs776092248 6p21.33 6 31741175 A null V M 54 54 missense 0.148 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1262863691 6p21.33 6 31741181 G null W G 56 56 missense 0.003 benign 0.03 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs759260801 6p21.33 6 31741196 G null L V 61 61 missense 0.026 benign 0.26 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1170000008 6p21.33 6 31741199 C null G R 62 62 missense 0.905 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs764619072 6p21.33 6 31741202 G null I V 63 63 missense 0.0 benign 0.35 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs752295911 6p21.33 6 31741209 G null Y C 65 65 missense 0.942 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs758885613 6p21.33 6 31741212 G null Y C 66 66 missense 0.942 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1209413151 6p21.33 6 31741221 A null S N 69 69 missense 0.005 benign 0.17 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs757557635 6p21.33 6 31741226 A null S T 71 71 missense 0.163 benign 0.23 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1808846720 6p21.33 6 31741230 T null T I 72 72 missense 0.007 benign 0.16 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs781635576 6p21.33 6 31741232 G null I V 73 73 missense 0.003 benign 0.56 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1808848005 6p21.33 6 31741243 A null M I 76 76 missense 0.074 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1808849292 6p21.33 6 31741253 G null P A 80 80 missense 0.018 benign 0.2 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1808849729 6p21.33 6 31741257 T null D V 81 81 missense 0.837 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs779976920 6p21.33 6 31741261 G null H Q 82 82 missense 0.003 benign 0.12 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1264654777 6p21.33 6 31741262 A null E K 83 83 missense 0.007 benign 0.13 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1417449468 6p21.33 6 31741266 A null S N 84 84 missense 0.001 benign 0.22 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28381349 UniProt:Ref.5 6p21.33 6 31741268 T null L F 85 85 missense 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs772135212 6p21.33 6 31741271 G null K E 86 86 missense 0.003 benign 0.36 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1427241995 6p21.33 6 31741273 C null K N 86 86 missense 0.078 benign 0.13 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1245736608 6p21.33 6 31741272 G null K R 86 86 missense 0.007 benign 0.29 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1477922821 6p21.33 6 31741277 T null L F 88 88 missense 0.959 probably damaging 0.01 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs746959342 6p21.33 6 31741281 G null Q R 89 89 missense 0.001 benign 0.26 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1475168724 6p21.33 6 31742879 G null L V 92 92 missense 0.014 benign 0.27 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1809037928 6p21.33 6 31742885 A null E K 94 94 missense 0.859 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs762338344 6p21.33 6 31742897 T null Q * 98 98 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1003771751 6p21.33 6 31742901 A null S Y 99 99 missense 0.007 benign 0.36 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs889291350 6p21.33 6 31742903 A null V I 100 100 missense 0.003 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs889291350 6p21.33 6 31742903 C null V L 100 100 missense 0.009 benign 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs767743499 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31742910 T null T M 102 102 missense 0.99 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1274108728 6p21.33 6 31742913 C null S T 103 103 missense 0.111 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs989240192 6p21.33 6 31742922 G null Q R 106 106 missense 0.792 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1408766372 6p21.33 6 31742925 G null D G 107 107 missense 0.988 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1408766372 6p21.33 6 31742925 T null D V 107 107 missense 0.992 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1809043022 6p21.33 6 31742929 C null E D 108 108 missense 0.253 benign 0.17 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs756277944 6p21.33 6 31742927 A null E K 108 108 missense 0.557 possibly damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs754120062 6p21.33 6 31742935 A null M I 110 110 missense 0.041 benign 0.08 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs780394457 6p21.33 6 31742933 G null M V 110 110 missense 0.072 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1025328818 6p21.33 6 31742939 T null R * 112 112 missense 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1025328818 6p21.33 6 31742939 G null R G 112 112 missense 0.031 benign 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs755055223 6p21.33 6 31742940 T null R L 112 112 missense 0.049 benign 0.05 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs755055223 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31742940 A null R Q 112 112 missense 0.001 benign 0.39 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1809045797 6p21.33 6 31742951 C null K Q 116 116 missense 0.018 benign 0.42 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1809046517 6p21.33 6 31742955 G null L R 117 117 missense 0.858 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1809046866 6p21.33 6 31742957 T null A S 118 118 missense 0.028 benign 0.31 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1809046866 6p21.33 6 31742957 A null A T 118 118 missense 0.078 benign 0.17 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1809063430 6p21.33 6 31743110 A null S T 119 119 missense 0.041 benign 0.13 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs754068882 6p21.33 6 31743113 A null Q K 120 120 missense 0.012 benign 0.59 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs755286122 6p21.33 6 31743114 G null Q R 120 120 missense 0.001 benign 0.29 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs765382400 6p21.33 6 31743116 A null E K 121 121 missense 0.113 benign 0.2 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs752877507 6p21.33 6 31743119 G null H D 122 122 missense 0.001 benign 0.53 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1425500131 6p21.33 6 31743121 G null H Q 122 122 missense 0.069 benign 0.2 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1809067539 6p21.33 6 31743126 C null E A 124 124 missense 0.0 benign 0.13 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs867446497 6p21.33 6 31743125 A null E K 124 124 missense 0.001 benign 0.13 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs757134162 6p21.33 6 31743129 T null P L 125 125 missense 0.0 benign 0.47 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs757134162 6p21.33 6 31743129 G null P R 125 125 missense 0.057 benign 0.4 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1420944568 6p21.33 6 31743131 G null K E 126 126 missense 0.001 benign 0.55 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1480276752 6p21.33 6 31743135 C null R T 127 127 missense 0.003 benign 0.2 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1403219350 6p21.33 6 31743138 G null P R 128 128 missense 0.968 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs745804757 6p21.33 6 31743143 G null I V 130 130 missense 0.003 benign 0.76 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs546320539 6p21.33 6 31743146 T null I L 131 131 0.000392465 missense 0.029 benign 0.19 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs546320539 6p21.33 6 31743146 G null I V 131 131 0.000392465 missense 0.001 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs906559667 6p21.33 6 31743159 A null S N 135 135 missense 0.024 benign 0.53 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1293804623 6p21.33 6 31743162 C null V A 136 136 missense 0.618 possibly damaging 0.28 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1809152007 6p21.33 6 31743914 G null I M 142 142 missense 0.662 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1410526308 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 6p21.33 6 31743921 T null Q * 145 145 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1410526308 6p21.33 6 31743921 A null Q K 145 145 missense 0.502 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs141863919 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31743924 T null R C 146 146 missense 1.0 probably damaging 0.0 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs778472555 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31743925 A null R H 146 146 missense 1.0 probably damaging 0.0 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,dbSNP,dbSNP rs965034637 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31743934 T null S F 149 149 missense 0.732 possibly damaging 0.0 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1347431600 6p21.33 6 31743936 A null G R 150 150 missense 0.024 benign 0.21 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs951767819 6p21.33 6 31743951 C null I L 155 155 missense 0.003 benign 0.9 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs951767819 6p21.33 6 31743951 G null I V 155 155 missense 0.003 benign 0.19 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein dbSNP,dbSNP,gnomAD rs1344042391 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31743954 T null P S 156 156 missense 0.262 benign 0.03 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs2151336850 6p21.33 6 31743957 C null D H 157 157 missense 0.215 benign 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs771564610 6p21.33 6 31743960 A null A T 158 158 missense 0.019 benign 0.27 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,gnomAD rs555852787 6p21.33 6 31743961 T null A V 158 158 0.000588697 missense 0.03 benign 0.09 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs147242972 6p21.33 6 31743963 T null M L 159 159 missense 0.003 benign 0.34 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs147242972 6p21.33 6 31743963 G null M V 159 159 missense 0.03 benign 0.15 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1809157815 6p21.33 6 31743970 T null A V 161 161 missense 0.048 benign 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1289238696 6p21.33 6 31743978 G null K E 164 164 missense 0.942 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,dbSNP,dbSNP,gnomAD rs200847013 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31743984 T null L F 166 166 missense 0.935 probably damaging 0.05 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs200847013 6p21.33 6 31743984 G null L V 166 166 missense 0.181 benign 0.5 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1246912077 6p21.33 6 31743987 C null F L 167 167 missense 0.113 benign 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs544248641 6p21.33 6 31743997 G null S C 170 170 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs544248641 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31743997 T null S F 170 170 missense 1.0 probably damaging 0.0 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1809162852 6p21.33 6 31743999 G null I V 171 171 missense 0.006 benign 0.26 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1178426915 6p21.33 6 31744002 T null I F 172 172 missense 0.79 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1178426915 6p21.33 6 31744002 G null I V 172 172 missense 0.01 benign 0.18 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1809163777 6p21.33 6 31744005 G null P A 173 173 missense 0.907 possibly damaging 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1246778705 6p21.33 6 31744008 G null F V 174 174 missense 0.932 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs375782879 6p21.33 6 31744012 G null D G 175 175 missense 0.74 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1809164998 6p21.33 6 31744011 A null D N 175 175 missense 0.13 benign 0.02 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs375782879 6p21.33 6 31744012 T null D V 175 175 missense 0.892 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs751638760 6p21.33 6 31744014 A null C S 176 176 missense 0.014 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1364061906 6p21.33 6 31744016 G null C W 176 176 missense 0.932 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs878954386 6p21.33 6 31744017 T null L F 177 177 missense 0.261 benign 0.07 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1035542409 6p21.33 6 31744018 A null L H 177 177 missense 0.012 benign 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs961052469 6p21.33 6 31744024 T null T I 179 179 missense 0.018 benign 0.02 deleterious - low confidence 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs979678139 6p21.33 6 31744142 T null P S 181 181 missense 0.0 benign 0.75 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1269317419 6p21.33 6 31744152 C null L S 184 184 missense 0.009 benign 0.1 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1215921764 6p21.33 6 31744157 C null F L 186 186 missense 0.0 benign 0.91 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs747284710 6p21.33 6 31744164 T null P L 188 188 missense 0.015 benign 0.51 tolerated - low confidence 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs374128866 6p21.33 6 31744163 T null P S 188 188 missense 0.0 benign 0.73 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs374128866 6p21.33 6 31744163 A null P T 188 188 missense 0.007 benign 0.83 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs759503147 6p21.33 6 31744169 T null P S 190 190 missense 0.001 benign 0.4 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs752487453 6p21.33 6 31744184 C null S P 195 195 missense 0.028 benign 0.21 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,gnomAD rs201902027 6p21.33 6 31744188 G null Q R 196 196 missense 0.097 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs147515280 6p21.33 6 31744193 T null R * 198 198 missense 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs147515280 6p21.33 6 31744193 G null R G 198 198 missense 0.892 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs373533126 6p21.33 6 31744194 C null R P 198 198 missense 0.945 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs373533126 6p21.33 6 31744194 A null R Q 198 198 missense 0.281 benign 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs780879911 6p21.33 6 31744197 G null A G 199 199 missense 0.964 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs931705193 6p21.33 6 31744200 C null L P 200 200 missense 0.978 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs140046907 6p21.33 6 31744202 A null G R 201 201 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,TOPMed,dbSNP,gnomAD rs28381358 UniProt:Ref.5 6p21.33 6 31744257 G null Y C 202 202 missense 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1809189816 6p21.33 6 31744212 A null L Q 204 204 missense 0.981 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1453199689 6p21.33 6 31744214 C null K Q 205 205 missense 0.992 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28381359 UniProt:Ref.5 6p21.33 6 31744268 T null V F 206 206 missense 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs112751313 6p21.33 6 31744221 A null L Q 207 207 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,TOPMed,gnomAD rs149694647 6p21.33 6 31744226 T null R * 209 209 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,TOPMed,gnomAD rs149694647 6p21.33 6 31744226 G null R G 209 209 missense 0.924 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs138712583 6p21.33 6 31744227 A null R Q 209 209 0.000392465 missense 0.566 possibly damaging 0.05 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1426267022 6p21.33 6 31744232 G null R G 211 211 missense 1.0 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs375514940 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31744238 C null G R 213 213 0.000196232 missense 0.979 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375514940 6p21.33 6 31744238 T null G W 213 213 0.000196232 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1809196452 6p21.33 6 31744241 A null V I 214 214 missense 0.149 benign 0.11 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1221371179 6p21.33 6 31744244 C null E Q 215 215 missense 0.839 possibly damaging 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs201310137 6p21.33 6 31744255 G null D E 218 218 0.000196232 missense 0.312 benign 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs369927732 6p21.33 6 31744265 G null S G 222 222 missense 0.0 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs765150543 6p21.33 6 31744266 A null S N 222 222 missense 0.001 benign 0.11 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs28381359 6p21.33 6 31744268 A null V I 223 223 missense 0.942 probably damaging 0.1 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1809201547 6p21.33 6 31744271 T null P S 224 224 missense 1.0 probably damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs2151337835 6p21.33 6 31744274 T null I F 225 225 missense 0.991 probably damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1809203251 6p21.33 6 31744278 A null L Q 226 226 missense 0.988 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs757008823 6p21.33 6 31744281 A null G D 227 227 missense 0.003 benign 0.25 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1470357782 6p21.33 6 31744294 G null F L 231 231 missense 0.68 possibly damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,TOPMed,gnomAD rs370701049 6p21.33 6 31744296 C null M T 232 232 missense 0.0 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs767345603 6p21.33 6 31744546 T null L F 233 233 missense 0.898 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1581517780 6p21.33 6 31744547 G null T A 234 234 missense 0.119 benign 0.27 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1809235101 6p21.33 6 31744550 T null H Y 235 235 missense 0.419 benign 0.13 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs2151338566 6p21.33 6 31744553 G null L V 236 236 missense 0.166 benign 0.78 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs755523006 6p21.33 6 31744560 G null N S 238 238 missense 0.0 benign 0.43 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1337020273 6p21.33 6 31744562 G null I V 239 239 missense 0.009 benign 0.26 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1809236970 6p21.33 6 31744566 T null D V 240 240 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1562221408 6p21.33 6 31744580 T null S C 245 245 missense 0.018 benign 0.09 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1562221408 6p21.33 6 31744580 G null S G 245 245 missense 0.001 benign 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1809238824 6p21.33 6 31744581 A null S N 245 245 missense 0.443 benign 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1562222608 6p21.33 6 31745238 A null V I 246 246 missense 0.897 possibly damaging 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1809324204 6p21.33 6 31745242 C null L P 247 247 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs2151340358 6p21.33 6 31745241 G null L V 247 247 missense 1.0 probably damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs2151340376 6p21.33 6 31745245 G null Q R 248 248 missense 0.435 benign 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1322704307 6p21.33 6 31745247 G null I V 249 249 missense 0.997 probably damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1203863745 6p21.33 6 31745259 T null E * 253 253 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs772006766 6p21.33 6 31745265 T null H Y 255 255 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs760408814 6p21.33 6 31745269 T null P L 256 256 missense 0.996 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs202161678 6p21.33 6 31745268 A null P T 256 256 0.000196232 missense 0.992 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs878903258 6p21.33 6 31745281 T null K I 260 260 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs765777525 6p21.33 6 31745286 T null A S 262 262 missense 0.013 benign 0.34 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1679782798 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31745287 T null A V 262 262 missense 0.026 benign 0.11 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1809328554 6p21.33 6 31745289 G null S G 263 263 missense 0.04 benign 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein dbSNP,dbSNP,gnomAD rs1480408717 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31745290 A null S N 263 263 missense 0.269 benign 0.03 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1480408717 6p21.33 6 31745290 C null S T 263 263 missense 0.007 benign 0.16 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs753440321 6p21.33 6 31745293 A null G E 264 264 missense 0.992 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs759951855 6p21.33 6 31745296 G null L R 265 265 missense 0.251 benign 0.63 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs765804606 6p21.33 6 31745304 A null G R 268 268 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1427727199 6p21.33 6 31745308 G null L R 269 269 missense 0.682 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1809331771 6p21.33 6 31745310 G null S G 270 270 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1374404021 6p21.33 6 31745313 G null L V 271 271 missense 1.0 probably damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs758709925 6p21.33 6 31745317 G null F C 272 272 missense 0.99 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1342775439 6p21.33 6 31747392 T null L F 275 275 missense 0.982 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1463325219 6p21.33 6 31747397 A null N K 276 276 missense 0.993 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs775716730 6p21.33 6 31747400 T null R S 277 277 missense 0.959 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs2151347147 6p21.33 6 31747405 G null H R 279 279 missense 0.0 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs927297718 6p21.33 6 31747408 C null C S 280 280 missense 0.007 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1282907122 6p21.33 6 31747411 C null K T 281 281 missense 0.048 benign 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs760225808 6p21.33 6 31747415 A null W * 282 282 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1366942259 6p21.33 6 31747417 A null G E 283 283 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1809559421 6p21.33 6 31747416 A null G R 283 283 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs770677623 6p21.33 6 31747429 A null L H 287 287 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs770677623 6p21.33 6 31747429 G null L R 287 287 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1809561448 6p21.33 6 31747431 G null R G 288 288 missense 0.974 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1809561769 6p21.33 6 31747432 A null R K 288 288 missense 0.365 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1810128966 6p21.33 6 31753302 A null L I 289 289 missense 0.606 possibly damaging 0.09 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1581540487 6p21.33 6 31753303 A null L Q 289 289 missense 0.127 benign 0.63 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs763435940 6p21.33 6 31753306 T null W L 290 290 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1810130021 6p21.33 6 31753305 C null W R 290 290 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,TOPMed,dbSNP,gnomAD rs144471639 [ClinVar]: Genetic non-acquired premature ovarian failure 6p21.33 6 31753314 T null R C 293 293 missense 0.991 probably damaging 0.0 deleterious 1 Genetic non-acquired premature ovarian failure ClinVar:RCV001661756 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,gnomAD rs372287164 6p21.33 6 31753315 A null R H 293 293 missense 0.987 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs774724163 6p21.33 6 31753318 T null P L 294 294 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs142533600 6p21.33 6 31753323 A null H N 296 296 missense 0.0 benign 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs527471080 6p21.33 6 31753324 G null H R 296 296 0.000196232 missense 0.0 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs142533600 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31753323 T null H Y 296 296 missense 0.013 benign 0.01 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,gnomAD rs548939028 6p21.33 6 31753330 C null L P 298 298 0.000196232 missense 0.96 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1810132273 6p21.33 6 31753329 G null L V 298 298 missense 0.183 benign 0.09 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1200625278 6p21.33 6 31753332 A null G R 299 299 missense 0.003 benign 0.29 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1245163682 6p21.33 6 31753335 A null E K 300 300 missense 0.4 benign 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1312556857 6p21.33 6 31753341 G null S G 302 302 missense 0.0 benign 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs200237441 6p21.33 6 31753343 G null S R 302 302 missense 0.003 benign 0.35 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1047906074 6p21.33 6 31753344 C null S P 303 303 missense 0.671 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs777829104 6p21.33 6 31753347 T null R C 304 304 missense 1.0 probably damaging 0.0 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs746903566 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31753348 A null R H 304 304 missense 1.0 probably damaging 0.0 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs746903566 6p21.33 6 31753348 T null R L 304 304 missense 1.0 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs746903566 6p21.33 6 31753348 C null R P 304 304 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs145519200 6p21.33 6 31753356 A null V I 307 307 missense 0.701 possibly damaging 0.01 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1810138154 6p21.33 6 31753360 G null I S 308 308 missense 0.988 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs745544583 6p21.33 6 31753359 G null I V 308 308 missense 0.365 benign 0.28 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1810138441 6p21.33 6 31753362 G null Q E 309 309 missense 0.0 benign 0.41 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs146418933 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31753364 T null Q H 309 309 missense 0.0 benign 0.08 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs769381856 6p21.33 6 31753363 C null Q P 309 309 missense 0.133 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs769381856 6p21.33 6 31753363 G null Q R 309 309 missense 0.003 benign 0.9 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs748865335 6p21.33 6 31753371 G null L V 312 312 missense 0.127 benign 0.72 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1810140653 6p21.33 6 31753378 A null P H 314 314 missense 0.97 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs774971042 6p21.33 6 31753381 C null Q P 315 315 missense 0.651 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1810141500 6p21.33 6 31753387 C null L P 317 317 missense 0.538 possibly damaging 0.19 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138219906 6p21.33 6 31753389 T null D Y 318 318 missense 0.972 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1347323946 6p21.33 6 31753392 T null M L 319 319 missense 0.001 benign 0.39 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1334648863 6p21.33 6 31753393 C null M T 319 319 missense 0.0 benign 0.63 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1347323946 6p21.33 6 31753392 G null M V 319 319 missense 0.0 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1810143502 6p21.33 6 31753400 T null Q H 321 321 missense 0.543 possibly damaging 0.1 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1406257671 6p21.33 6 31753399 G null Q R 321 321 missense 0.01 benign 0.42 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1810143832 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31753403 A null M I 322 322 missense 0.034 benign 0.03 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1448456133 6p21.33 6 31753408 G null H R 324 324 missense 0.051 benign 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein dbSNP,dbSNP,gnomAD rs1269438723 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31753411 A null R Q 325 325 missense 0.112 benign 0.2 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1009005943 6p21.33 6 31753410 T null R W 325 325 missense 0.886 possibly damaging 0.01 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs767954064 6p21.33 6 31753419 A null G S 328 328 missense 0.01 benign 0.17 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1191323707 6p21.33 6 31753422 A null H N 329 329 missense 0.007 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs773398484 6p21.33 6 31753424 A null H Q 329 329 missense 0.051 benign 0.05 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs56200818 6p21.33 6 31753425 G null I V 330 330 missense 0.481 possibly damaging 0.1 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs377707567 6p21.33 6 31753434 A null V M 333 333 missense 0.521 possibly damaging 0.0 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs755163320 6p21.33 6 31753437 T null P S 334 334 missense 0.739 possibly damaging 0.17 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs146730825 6p21.33 6 31753570 G null I V 336 336 missense 0.394 benign 0.18 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1810166465 6p21.33 6 31753573 G null L V 337 337 missense 0.907 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,dbSNP,gnomAD rs753519199 [ClinVar]: Spermatogenic failure 74 pubmed:34755185 6p21.33 6 31753579 T null R C 339 339 missense 0.996 probably damaging 0.0 deleterious 0 Spermatogenic failure 74 (SPGF74) MIM:619937 ClinVar:RCV002260705 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,dbSNP,dbSNP,gnomAD rs923694243 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31753580 A null R H 339 339 missense 0.991 probably damaging 0.01 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1296509917 6p21.33 6 31753584 T null M I 340 340 missense 0.701 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1298630548 6p21.33 6 31753582 G null M V 340 340 missense 0.685 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1364555108 6p21.33 6 31753585 C null K Q 341 341 missense 0.02 benign 0.11 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs778496445 6p21.33 6 31753586 C null K T 341 341 missense 0.001 benign 0.55 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs747543231 6p21.33 6 31753590 C null L F 342 342 missense 0.024 benign 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs771603486 6p21.33 6 31753596 A null H Q 344 344 missense 0.005 benign 0.47 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1234557320 6p21.33 6 31753598 A null T N 345 345 missense 0.039 benign 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1279458314 6p21.33 6 31753601 C null K T 346 346 missense 0.566 possibly damaging 0.13 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1352217266 6p21.33 6 31753603 T null V F 347 347 missense 0.664 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1352217266 6p21.33 6 31753603 A null V I 347 347 missense 0.027 benign 0.15 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1219232275 6p21.33 6 31753607 C null S T 348 348 missense 0.018 benign 0.74 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1384916782 6p21.33 6 31753609 A null D N 349 349 missense 0.561 possibly damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1810173053 6p21.33 6 31753614 A null W * 350 350 missense 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1490228829 6p21.33 6 31753613 T null W L 350 350 missense 1.0 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes rs920614234 6p21.33 6 31753615 T null Q * 351 351 0.000196232 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28399976 [ClinVar]: Spermatogenic failure 74, [ClinVar]: Genetic non-acquired premature ovarian failure, [ClinVar]: MSH5-related disorder UniProt:Ref.5 6p21.33 6 31758201 G null R G 351 351 missense 1 Genetic non-acquired premature ovarian failure ClinVar:RCV001663373 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28399976 [ClinVar]: Spermatogenic failure 74, [ClinVar]: Genetic non-acquired premature ovarian failure, [ClinVar]: MSH5-related disorder UniProt:Ref.5 6p21.33 6 31758201 G null R G 351 351 missense 1 MSH5-related disorder ClinVar:RCV003931267 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28399976 [ClinVar]: Spermatogenic failure 74, [ClinVar]: Genetic non-acquired premature ovarian failure, [ClinVar]: MSH5-related disorder UniProt:Ref.5 6p21.33 6 31758201 G null R G 351 351 missense 1 Spermatogenic failure 74 (SPGF74) MIM:619937 ClinVar:RCV003492267 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1208301082 6p21.33 6 31753619 G null V G 352 352 missense 0.007 benign 0.45 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs747492678 6p21.33 6 31753625 G null Y C 354 354 missense 0.93 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs771456934 6p21.33 6 31753627 G null K E 355 355 missense 0.058 benign 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs975768398 6p21.33 6 31758169 C null V A 357 357 missense 0.028 benign 0.11 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs975768398 6p21.33 6 31758169 G null V G 357 357 missense 0.696 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1024218277 6p21.33 6 31758174 G null S G 359 359 missense 0.452 possibly damaging 0.05 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs770182829 6p21.33 6 31758177 T null A S 360 360 missense 0.988 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs968149872 6p21.33 6 31758181 C null L P 361 361 missense 0.945 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1810618391 6p21.33 6 31758180 G null L V 361 361 missense 0.028 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed rs775624062 6p21.33 6 31758183 A null G S 362 362 missense 0.409 benign 0.53 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1379130675 6p21.33 6 31758190 C null R T 364 364 missense 0.641 possibly damaging 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1332664728 6p21.33 6 31758189 T null R W 364 364 missense 0.976 probably damaging 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1309712663 6p21.33 6 31758192 A null D N 365 365 missense 0.22 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs28399976 6p21.33 6 31758201 T null R C 368 368 missense 0.009 benign 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,dbSNP,dbSNP,gnomAD rs1226966371 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31758202 A null R H 368 368 missense 0.894 possibly damaging 0.0 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1243252622 6p21.33 6 31758205 T null S F 369 369 missense 0.862 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC rs776624759 6p21.33 6 31758211 T null P L 371 371 missense 0.995 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1252357006 6p21.33 6 31758210 A null P T 371 371 missense 0.992 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,gnomAD rs150348946 6p21.33 6 31758214 G null Q R 372 372 missense 0.514 possibly damaging 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs765055098 6p21.33 6 31758217 T null S F 373 373 missense 0.747 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1810625368 6p21.33 6 31758219 G null I V 374 374 missense 0.043 benign 0.26 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs752328105 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31758224 T null Q H 375 375 missense 0.007 benign 0.09 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC rs758024890 6p21.33 6 31758225 G null L V 376 376 missense 0.866 possibly damaging 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28399977 UniProt:Ref.5 6p21.33 6 31758279 T null L F 377 377 missense 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs145281780 6p21.33 6 31758232 A null R Q 378 378 missense 0.0 benign 0.45 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs767522105 6p21.33 6 31758231 T null R W 378 378 missense 0.5 possibly damaging 0.01 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs781779688 6p21.33 6 31758234 A null D N 379 379 missense 0.277 benign 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs781779688 6p21.33 6 31758234 T null D Y 379 379 missense 0.726 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs746365164 6p21.33 6 31758237 G null I V 380 380 missense 0.234 benign 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1425099380 6p21.33 6 31758244 C null Q P 382 382 missense 0.175 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1810629850 6p21.33 6 31758253 T null S F 385 385 missense 0.919 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1810630957 6p21.33 6 31758268 C null H P 390 390 missense 0.572 possibly damaging 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1202606859 6p21.33 6 31758267 T null H Y 390 390 missense 0.007 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs371214465 6p21.33 6 31758270 G null I V 391 391 missense 0.365 benign 0.1 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs752626267 6p21.33 6 31758273 A null A T 392 392 missense 0.591 possibly damaging 0.07 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1581555433 6p21.33 6 31758277 T null S I 393 393 missense 0.159 benign 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1309652288 6p21.33 6 31758280 C null L P 394 394 missense 0.991 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs905227820 6p21.33 6 31758284 G null I M 395 395 missense 0.991 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs774416976 6p21.33 6 31758283 A null I N 395 395 missense 0.988 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs774416976 6p21.33 6 31758283 C null I T 395 395 missense 0.8 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs2151375103 6p21.33 6 31758288 C null K Q 397 397 missense 0.913 probably damaging 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1219316667 6p21.33 6 31758292 C null V A 398 398 missense 0.95 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1810659666 6p21.33 6 31758553 G null D E 400 400 missense 0.991 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs748346009 6p21.33 6 31758558 G null E G 402 402 missense 0.938 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1810660839 6p21.33 6 31758560 T null G C 403 403 missense 0.703 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1225712829 6p21.33 6 31758563 G null S G 404 404 missense 0.992 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1426472892 6p21.33 6 31758569 C null A P 406 406 missense 0.886 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1810661935 6p21.33 6 31758572 C null E Q 407 407 missense 0.037 benign 0.34 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs772174876 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31758578 T null R C 409 409 missense 0.058 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs772174876 6p21.33 6 31758578 G null R G 409 409 missense 0.695 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,dbSNP,dbSNP,gnomAD rs777865774 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31758579 A null R H 409 409 missense 0.037 benign 0.06 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs777865774 6p21.33 6 31758579 T null R L 409 409 missense 0.625 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs772174876 6p21.33 6 31758578 A null R S 409 409 missense 0.625 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs745810613 6p21.33 6 31758585 G null T R 411 411 missense 0.982 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,dbSNP,dbSNP rs1318922901 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31758593 T null P S 414 414 missense 0.566 possibly damaging 0.04 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1810664940 6p21.33 6 31758597 G null N S 415 415 missense 0.748 possibly damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs908424021 6p21.33 6 31758600 C null I T 416 416 missense 0.825 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs982649663 6p21.33 6 31758599 G null I V 416 416 missense 0.038 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs768549863 6p21.33 6 31758608 A null E K 419 419 missense 0.049 benign 0.47 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs774188697 6p21.33 6 31758619 C null E D 422 422 missense 0.088 benign 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1810667558 6p21.33 6 31758620 C null K Q 423 423 missense 0.913 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1045289075 6p21.33 6 31758769 G null K R 424 424 missense 0.932 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,dbSNP,dbSNP,gnomAD rs772734061 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 6p21.33 6 31758771 T null R * 425 425 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs760288512 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31758772 A null R Q 425 425 missense 0.935 probably damaging 0.01 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1438957659 6p21.33 6 31758778 C null L P 427 427 missense 0.919 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs201036343 6p21.33 6 31758783 C null G R 429 429 missense 0.8 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs759991582 6p21.33 6 31758790 A null P H 431 431 missense 0.99 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs759991582 6p21.33 6 31758790 T null P L 431 431 missense 0.972 probably damaging 0.0 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs752995567 6p21.33 6 31758792 G null S G 432 432 missense 0.03 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs2151375909 6p21.33 6 31758793 A null S N 432 432 missense 0.0 benign 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs371674135 6p21.33 6 31758797 A null F L 433 433 missense 0.107 benign 0.11 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1464099616 6p21.33 6 31758798 T null L F 434 434 missense 0.995 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1172989243 6p21.33 6 31758804 A null E K 436 436 missense 0.072 benign 0.34 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1172989243 6p21.33 6 31758804 C null E Q 436 436 missense 0.181 benign 0.17 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1400939483 6p21.33 6 31758813 T null R C 439 439 missense 0.781 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed rs764436774 6p21.33 6 31758814 A null R H 439 439 missense 0.636 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1810688823 6p21.33 6 31758817 C null K T 440 440 missense 0.009 benign 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1475124754 6p21.33 6 31758834 A null D N 446 446 missense 0.234 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs749261273 6p21.33 6 31758840 T null R C 448 448 missense 0.015 benign 0.07 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs146419845 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31758841 A null R H 448 448 missense 0.006 benign 0.08 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs146419845 6p21.33 6 31758841 T null R L 448 448 missense 0.122 benign 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs996971599 6p21.33 6 31758855 G null S G 453 453 missense 0.283 benign 0.12 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs748022464 6p21.33 6 31758865 G null Y C 456 456 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1810693721 6p21.33 6 31758868 G null I S 457 457 missense 0.982 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1270579111 6p21.33 6 31759110 C null L P 464 464 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs746692254 6p21.33 6 31759109 G null L V 464 464 missense 0.938 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs770429409 6p21.33 6 31759113 T null S F 465 465 missense 0.063 benign 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1562245683 6p21.33 6 31759116 C null I T 466 466 missense 0.748 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1454707671 6p21.33 6 31759119 T null P L 467 467 missense 0.976 probably damaging 0.0 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs568198414 6p21.33 6 31759118 T null P S 467 467 missense 0.952 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs535334486 6p21.33 6 31759121 T null R C 468 468 0.000196232 missense 0.132 benign 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,TOPMed,dbSNP,dbSNP,gnomAD rs139002853 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31759122 A null R H 468 468 missense 0.959 probably damaging 0.01 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1374809697 6p21.33 6 31759124 G null L V 469 469 missense 0.196 benign 0.05 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1158900357 6p21.33 6 31759128 T null P L 470 470 missense 0.103 benign 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1810732500 6p21.33 6 31759131 T null S F 471 471 missense 0.001 benign 0.33 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1283350101 6p21.33 6 31759136 C null V L 473 473 missense 0.047 benign 0.18 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1384543060 6p21.33 6 31759142 A null A T 475 475 missense 0.001 benign 0.21 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs776019613 6p21.33 6 31759143 T null A V 475 475 missense 0.049 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1810734838 6p21.33 6 31759145 G null S G 476 476 missense 0.007 benign 0.16 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1810735197 6p21.33 6 31759148 A null D N 477 477 missense 0.671 possibly damaging 0.07 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1810736738 6p21.33 6 31759159 G null I M 480 480 missense 0.257 benign 0.15 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1226327125 6p21.33 6 31759158 G null I S 480 480 missense 0.931 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1352005880 6p21.33 6 31759164 A null G E 482 482 missense 0.995 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs769090092 6p21.33 6 31759177 A null M I 486 486 missense 0.08 benign 0.1 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1810737858 6p21.33 6 31759176 A null M K 486 486 missense 0.514 possibly damaging 0.12 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1007207158 6p21.33 6 31759175 G null M V 486 486 missense 0.022 benign 0.2 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl,dbSNP rs1060505055 [ClinVar]: Premature ovarian failure 13, [UniProt]: POF13; decreased function in DNA repair as suggested by the persistence of gamma-H2AX foci following cell treatment with etoposide pubmed:28175301 pubmed:28175301 6p21.33 6 31759476 T null D Y 487 487 missense 0 Premature ovarian failure 13 (POF13) MIM:617442 ClinVar:RCV000477966 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl,dbSNP rs1060505055 [ClinVar]: Premature ovarian failure 13, [UniProt]: POF13; decreased function in DNA repair as suggested by the persistence of gamma-H2AX foci following cell treatment with etoposide pubmed:28175301 pubmed:28175301 6p21.33 6 31759476 T null D Y 487 487 missense 0 Premature ovarian failure 13 (POF13) An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. MIM:617442 pubmed:28175301 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs752708451 6p21.33 6 31759432 T null S L 489 489 missense 0.039 benign 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1810759922 6p21.33 6 31759436 T null E D 490 490 missense 0.065 benign 0.14 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1810759568 6p21.33 6 31759434 A null E K 490 490 missense 0.701 possibly damaging 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1331227391 6p21.33 6 31759437 A null E K 491 491 missense 0.162 benign 0.07 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs2151376934 6p21.33 6 31759447 G null H R 494 494 missense 0.319 benign 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,dbSNP,dbSNP,gnomAD rs777634800 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31759452 T null R C 496 496 missense 0.984 probably damaging 0.0 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs751243553 6p21.33 6 31759453 A null R H 496 496 missense 0.984 probably damaging 0.0 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1810761937 6p21.33 6 31759457 A null S R 497 497 missense 0.886 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs2151376970 6p21.33 6 31759459 G null A G 498 498 missense 0.162 benign 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs757036190 6p21.33 6 31759461 T null R * 499 499 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs143329989 6p21.33 6 31759462 C null R P 499 499 missense 0.96 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs143329989 6p21.33 6 31759462 A null R Q 499 499 missense 0.941 probably damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1242899154 6p21.33 6 31759465 T null T I 500 500 missense 0.993 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1389491312 6p21.33 6 31759468 G null K R 501 501 missense 0.034 benign 0.39 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1267249402 6p21.33 6 31759470 A null E K 502 502 missense 0.887 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1335582081 6p21.33 6 31759473 G null L V 503 503 missense 0.984 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs564465985 6p21.33 6 31759485 A null L M 507 507 missense 0.991 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1810767518 6p21.33 6 31759492 G null D G 509 509 missense 0.941 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs936923027 6p21.33 6 31759500 C null C R 512 512 missense 0.709 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs372570974 6p21.33 6 31759503 A null E K 513 513 missense 0.045 benign 0.02 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs768980200 6p21.33 6 31759509 G null R G 515 515 missense 0.748 possibly damaging 0.05 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs774915854 6p21.33 6 31759510 A null R Q 515 515 missense 0.905 possibly damaging 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs768980200 6p21.33 6 31759509 T null R W 515 515 missense 0.966 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1364214339 6p21.33 6 31759787 G null D E 516 516 missense 0.995 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs369328784 6p21.33 6 31759786 G null D G 516 516 missense 0.997 probably damaging 0.07 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs375240305 6p21.33 6 31759512 A null D N 516 516 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs375240305 6p21.33 6 31759512 T null D Y 516 516 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs758506140 6p21.33 6 31759788 G null Q E 517 517 missense 0.196 benign 0.17 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1581560453 6p21.33 6 31759793 C null E D 518 518 missense 0.982 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1203566834 6p21.33 6 31759791 A null E K 518 518 missense 0.973 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs751781847 6p21.33 6 31759795 T null T M 519 519 missense 0.328 benign 0.12 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs747243519 6p21.33 6 31759798 C null L P 520 520 missense 0.015 benign 0.2 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs568300022 6p21.33 6 31759805 A null M I 522 522 0.000196232 missense 0.392 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1810802007 6p21.33 6 31759803 G null M V 522 522 missense 0.727 possibly damaging 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1810803158 6p21.33 6 31759810 G null Q R 524 524 missense 0.026 benign 0.21 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs776904194 6p21.33 6 31759824 C null V L 529 529 missense 0.06 benign 0.07 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs776904194 6p21.33 6 31759824 A null V M 529 529 missense 0.936 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1157148220 6p21.33 6 31759827 A null L M 530 530 missense 0.866 possibly damaging 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1485891206 6p21.33 6 31759831 T null A V 531 531 missense 0.196 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs765331052 6p21.33 6 31759833 T null R * 532 532 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs141972312 6p21.33 6 31759834 C null R P 532 532 missense 0.921 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs141972312 6p21.33 6 31759834 A null R Q 532 532 missense 0.804 possibly damaging 0.01 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs761693917 6p21.33 6 31759839 C null A P 534 534 missense 0.003 benign 0.12 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1396095125 6p21.33 6 31759842 A null V I 535 535 missense 0.32 benign 0.07 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs766003915 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 6p21.33 6 31759851 T null R * 538 538 missense 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs766003915 6p21.33 6 31759851 G null R G 538 538 missense 0.181 benign 0.12 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1431554863 6p21.33 6 31759852 T null R L 538 538 missense 0.181 benign 0.07 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,dbSNP,dbSNP,gnomAD rs1431554863 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31759852 A null R Q 538 538 missense 0.071 benign 0.32 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1293085972 6p21.33 6 31759854 A null V I 539 539 missense 0.62 possibly damaging 0.07 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1293085972 6p21.33 6 31759854 T null V L 539 539 missense 0.394 benign 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1431998328 6p21.33 6 31759863 T null L F 542 542 missense 0.039 benign 0.05 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs748684293 6p21.33 6 31759869 G null S A 544 544 missense 0.007 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1237740792 6p21.33 6 31759872 T null R C 545 545 missense 0.91 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs898926429 6p21.33 6 31759873 A null R H 545 545 missense 0.015 benign 0.09 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1220175817 6p21.33 6 31759879 G null D G 547 547 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein dbSNP,dbSNP,gnomAD rs1479375303 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31759881 A null V I 548 548 missense 0.661 possibly damaging 0.0 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1377935239 6p21.33 6 31759897 G null A G 553 553 missense 0.609 possibly damaging 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1201329599 6p21.33 6 31759896 A null A T 553 553 missense 0.958 probably damaging 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs370037482 6p21.33 6 31759900 C null S T 554 554 missense 0.047 benign 0.29 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1254227017 6p21.33 6 31759903 T null A V 555 555 missense 0.072 benign 0.16 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1810818296 6p21.33 6 31759909 A null R Q 557 557 missense 0.34 benign 0.5 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1156485091 6p21.33 6 31759908 T null R W 557 557 missense 0.992 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs771307170 6p21.33 6 31759915 G null Y C 559 559 missense 0.959 probably damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs776761232 6p21.33 6 31759917 C null G R 560 560 missense 0.921 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs746066292 6p21.33 6 31759922 A null Y * 561 561 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs895721974 6p21.33 6 31759921 G null Y C 561 561 missense 0.991 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs368545412 6p21.33 6 31759930 T null P L 564 564 missense 1.0 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs767511035 6p21.33 6 31759932 T null R C 565 565 missense 0.003 benign 0.19 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs773121271 6p21.33 6 31759933 A null R H 565 565 missense 0.0 benign 0.31 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs773121271 6p21.33 6 31759933 T null R L 565 565 missense 0.03 benign 0.1 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1810822689 6p21.33 6 31759938 A null S T 567 567 missense 0.0 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1562247553 6p21.33 6 31759942 T null P L 568 568 missense 0.018 benign 0.05 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1326460511 6p21.33 6 31759944 A null Q K 569 569 missense 0.0 benign 0.45 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs867653729 6p21.33 6 31759950 A null L I 571 571 missense 0.049 benign 0.57 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1376133619 6p21.33 6 31759953 A null G R 572 572 missense 0.027 benign 0.34 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1444287107 6p21.33 6 31759956 A null V I 573 573 missense 0.018 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1810825794 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 6p21.33 6 31759959 T null R * 574 574 missense 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,dbSNP,dbSNP,gnomAD rs966796074 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31759960 A null R Q 574 574 missense 0.3 benign 0.26 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs2151377968 6p21.33 6 31759967 C null Q H 576 576 missense 0.328 benign 0.07 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs766164563 6p21.33 6 31759969 G null N S 577 577 missense 0.03 benign 0.47 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs753464395 6p21.33 6 31759972 T null G V 578 578 missense 0.97 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1209913246 6p21.33 6 31760092 G null H R 580 580 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs762594651 6p21.33 6 31760091 T null H Y 580 580 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,TOPMed,gnomAD rs369122691 6p21.33 6 31760101 C null M T 583 583 missense 0.049 benign 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1188665133 6p21.33 6 31760103 A null E K 584 584 missense 0.992 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1423023899 6p21.33 6 31760106 T null L F 585 585 missense 0.736 possibly damaging 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP rs372527730 6p21.33 6 31760110 A null C Y 586 586 missense 0.978 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs752139216 6p21.33 6 31760115 T null R * 588 588 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs757728679 6p21.33 6 31760116 A null R Q 588 588 missense 0.152 benign 0.1 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs781415195 6p21.33 6 31760119 T null T I 589 589 missense 0.682 possibly damaging 0.22 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1376829405 6p21.33 6 31760122 G null F C 590 590 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1581562187 6p21.33 6 31760121 G null F V 590 590 missense 1.0 probably damaging 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1439080670 6p21.33 6 31760125 G null V G 591 591 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1415037901 6p21.33 6 31760124 A null V M 591 591 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1810849999 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31760134 T null S F 594 594 missense 0.919 probably damaging 0.0 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs780305341 6p21.33 6 31760140 C null E A 596 596 missense 0.007 benign 0.54 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs45468693 6p21.33 6 31760142 G null C G 597 597 0.00274725 missense 0.049 benign 0.15 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1810851296 6p21.33 6 31760143 A null C Y 597 597 missense 0.196 benign 0.43 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs768752717 6p21.33 6 31760146 A null G D 598 598 missense 0.01 benign 0.16 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs768752717 6p21.33 6 31760146 T null G V 598 598 missense 0.213 benign 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1218999283 6p21.33 6 31760151 T null D Y 600 600 missense 0.743 possibly damaging 0.07 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs778914313 6p21.33 6 31760158 A null G E 602 602 missense 0.047 benign 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs746932578 6p21.33 6 31760164 A null V D 604 604 missense 0.945 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1228678047 6p21.33 6 31760167 G null K R 605 605 missense 0.085 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1242628907 6p21.33 6 31760169 A null V I 606 606 missense 0.01 benign 0.79 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1581562530 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31760172 G null I V 607 607 missense 0.218 benign 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1810857911 6p21.33 6 31760176 T null T I 608 608 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs770830813 6p21.33 6 31760175 C null T P 608 608 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1810858706 6p21.33 6 31760179 A null G E 609 609 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs776424705 6p21.33 6 31760178 A null G R 609 609 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1434911254 6p21.33 6 31760182 G null P R 610 610 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1396690527 6p21.33 6 31760181 T null P S 610 610 missense 0.991 probably damaging 0.0 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1157646234 6p21.33 6 31760185 T null N I 611 611 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1157646234 6p21.33 6 31760185 G null N S 611 611 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs769686810 6p21.33 6 31760188 T null S L 612 612 missense 0.863 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1810861290 6p21.33 6 31760196 T null K * 615 615 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1318481233 6p21.33 6 31760198 C null K N 615 615 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1810861681 6p21.33 6 31760197 G null K R 615 615 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs2151378413 6p21.33 6 31760200 A null S N 616 616 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1024841664 6p21.33 6 31760205 C null Y H 618 618 missense 0.982 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61748589 6p21.33 6 31760212 G null K R 620 620 missense 0.995 probably damaging 0.02 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1308996881 6p21.33 6 31760690 A null V I 622 622 missense 0.052 benign 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs2151379127 6p21.33 6 31760698 C null L F 624 624 missense 0.992 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs758391199 6p21.33 6 31760701 G null I M 625 625 missense 0.894 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs781237213 6p21.33 6 31760706 A null F Y 627 627 missense 0.681 possibly damaging 0.09 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1810912776 6p21.33 6 31760709 C null M T 628 628 missense 0.947 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs745755479 6p21.33 6 31760714 A null L M 630 630 missense 0.68 possibly damaging 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1810913464 6p21.33 6 31760720 T null G C 632 632 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1810913785 6p21.33 6 31760727 C null F S 634 634 missense 0.936 probably damaging 0.35 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs769736864 6p21.33 6 31760732 G null P A 636 636 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs775371109 6p21.33 6 31760743 C null E D 639 639 missense 0.078 benign 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs748958256 6p21.33 6 31760744 A null A T 640 640 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs773862644 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31760747 A null E K 641 641 missense 0.029 benign 0.07 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1420450908 6p21.33 6 31760752 G null I M 642 642 missense 0.944 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,gnomAD rs529144916 6p21.33 6 31760757 T null A V 644 644 missense 0.001 benign 0.63 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,TOPMed,gnomAD rs367550649 6p21.33 6 31760759 C null V L 645 645 missense 0.108 benign 0.12 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs569026702 6p21.33 6 31760765 A null A T 647 647 0.000196232 missense 0.688 possibly damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1397242192 6p21.33 6 31760770 G null I M 648 648 missense 0.907 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs766742261 6p21.33 6 31760778 T null R L 651 651 missense 0.991 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs766742261 6p21.33 6 31760778 A null R Q 651 651 missense 0.997 probably damaging 0.0 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1297918100 6p21.33 6 31760780 G null I V 652 652 missense 0.234 benign 0.13 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs754134814 6p21.33 6 31760784 G null H R 653 653 missense 0.682 possibly damaging 0.15 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs139795131 6p21.33 6 31760791 A null C * 655 655 missense 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs765549669 6p21.33 6 31760792 A null E K 656 656 missense 0.824 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1231521758 6p21.33 6 31760822 G null M V 666 666 missense 0.606 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1810923817 6p21.33 6 31760825 G null I V 667 667 missense 0.606 possibly damaging 0.05 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs758542821 6p21.33 6 31760828 A null D N 668 668 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1810924918 6p21.33 6 31760834 G null N D 670 670 missense 0.897 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1217960899 6p21.33 6 31760835 G null N S 670 670 missense 0.649 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1217960899 6p21.33 6 31760835 C null N T 670 670 missense 0.947 probably damaging 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1810926096 6p21.33 6 31760837 T null Q * 671 671 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs971199165 6p21.33 6 31761191 A null A T 673 673 missense 0.952 probably damaging 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs751759812 6p21.33 6 31761192 T null A V 673 673 missense 0.8 possibly damaging 0.0 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1171491067 6p21.33 6 31761204 T null N I 677 677 missense 0.978 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs753796312 6p21.33 6 31761205 A null N K 677 677 missense 0.466 possibly damaging 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1171491067 6p21.33 6 31761204 G null N S 677 677 missense 0.863 possibly damaging 0.05 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs754835753 6p21.33 6 31761206 T null N Y 678 678 missense 0.049 benign 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs747848552 6p21.33 6 31761219 G null Q R 682 682 missense 0.0 benign 0.82 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,dbSNP,dbSNP,gnomAD rs1287197549 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31761222 T null S L 683 683 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs777477382 6p21.33 6 31761234 C null I T 687 687 missense 0.811 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1302365717 6p21.33 6 31761237 G null D G 688 688 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,dbSNP,dbSNP,gnomAD rs746576082 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 6p21.33 6 31761239 T null E * 689 689 missense 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs143496126 6p21.33 6 31761240 C null E A 689 689 missense 0.995 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs746576082 6p21.33 6 31761239 A null E K 689 689 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs935670710 6p21.33 6 31761242 C null F L 690 690 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs777160024 6p21.33 6 31761251 A null G R 693 693 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs371336753 6p21.33 6 31761261 T null T M 696 696 missense 0.766 possibly damaging 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs777447655 6p21.33 6 31761472 T null V L 697 697 missense 0.012 benign 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs780625907 6p21.33 6 31761485 A null A E 701 701 missense 0.363 benign 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs780625907 6p21.33 6 31761485 G null A G 701 701 missense 0.037 benign 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs561487480 6p21.33 6 31761484 C null A P 701 701 0.000196232 missense 0.645 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs561487480 6p21.33 6 31761484 A null A T 701 701 0.000196232 missense 0.29 benign 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs780625907 6p21.33 6 31761485 T null A V 701 701 missense 0.447 possibly damaging 0.03 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1452325739 6p21.33 6 31761487 T null L F 702 702 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs2151380321 6p21.33 6 31761490 G null L V 703 703 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,dbSNP,gnomAD rs752657544 [UniProt]: POF13; uncertain significance pubmed:28175301 6p21.33 6 31761541 G null I V 703 703 missense 0 Premature ovarian failure 13 (POF13) An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. MIM:617442 pubmed:28175301 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs923587532 6p21.33 6 31761496 T null A S 705 705 missense 0.087 benign 0.13 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs923587532 6p21.33 6 31761496 A null A T 705 705 missense 0.428 benign 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1810990712 6p21.33 6 31761499 C null V L 706 706 missense 0.466 possibly damaging 0.05 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1810991571 6p21.33 6 31761503 C null L P 707 707 missense 0.934 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs375591471 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 6p21.33 6 31761505 T null R * 708 708 missense 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs201166095 6p21.33 6 31761506 T null R L 708 708 missense 0.162 benign 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs201166095 6p21.33 6 31761506 C null R P 708 708 missense 0.544 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs201166095 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31761506 A null R Q 708 708 missense 0.024 benign 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs750458730 6p21.33 6 31761510 G null H Q 709 709 missense 0.886 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1810993656 6p21.33 6 31761512 A null W * 710 710 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs760800506 6p21.33 6 31761520 T null R C 713 713 missense 0.466 possibly damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs200755245 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31761521 A null R H 713 713 0.0002 missense 0.305 benign 0.05 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs2151380430 6p21.33 6 31761534 G null C W 717 717 missense 0.996 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1810996434 6p21.33 6 31761536 A null P H 718 718 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1292837626 6p21.33 6 31761538 T null H Y 719 719 missense 0.645 possibly damaging 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs2151380465 6p21.33 6 31761545 C null F S 721 721 missense 0.967 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1810997889 6p21.33 6 31761548 A null V E 722 722 missense 0.978 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1810998552 6p21.33 6 31761550 A null A T 723 723 missense 0.82 possibly damaging 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs931839218 6p21.33 6 31761559 A null F I 726 726 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1810999963 6p21.33 6 31761571 T null V F 730 730 missense 0.605 possibly damaging 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs780820087 6p21.33 6 31761589 T null P S 736 736 missense 0.993 probably damaging 0.08 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs745428814 6p21.33 6 31761593 G null Q R 737 737 missense 0.001 benign 0.29 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs957004773 6p21.33 6 31761595 A null G R 738 738 missense 0.671 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs148479115 6p21.33 6 31761599 T null P L 739 739 missense 0.482 possibly damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes rs2151380571 6p21.33 6 31761604 A null V M 741 741 missense 0.387 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1811005755 6p21.33 6 31761608 G null Q R 742 742 missense 0.007 benign 0.22 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs748578129 6p21.33 6 31761822 C null M T 746 746 missense 0.271 benign 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs779556401 6p21.33 6 31761821 G null M V 746 746 missense 0.606 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs772538587 6p21.33 6 31761826 T null E D 747 747 missense 0.088 benign 0.11 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1811029018 6p21.33 6 31761824 A null E K 747 747 missense 0.467 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1811029941 6p21.33 6 31761828 G null T S 748 748 missense 0.971 probably damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs773345589 6p21.33 6 31761831 C null C S 749 749 missense 0.079 benign 0.21 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs773345589 6p21.33 6 31761831 A null C Y 749 749 missense 0.079 benign 0.51 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs770936535 6p21.33 6 31761833 A null E K 750 750 missense 0.112 benign 0.74 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1315155376 6p21.33 6 31761836 T null D Y 751 751 missense 0.845 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs911714366 6p21.33 6 31761843 G null N S 753 753 missense 0.031 benign 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs776713339 6p21.33 6 31761845 C null D H 754 754 missense 0.743 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs776713339 6p21.33 6 31761845 A null D N 754 754 missense 0.047 benign 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs776713339 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31761845 T null D Y 754 754 missense 0.81 possibly damaging 0.0 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs764077523 6p21.33 6 31761851 T null V F 756 756 missense 0.83 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs761636864 6p21.33 6 31761854 C null F L 757 757 missense 0.942 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1248622175 6p21.33 6 31761859 G null F L 758 758 missense 0.001 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1217823336 6p21.33 6 31761857 C null F L 758 758 missense 0.001 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs767263679 6p21.33 6 31761861 G null Y C 759 759 missense 0.995 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs767263679 6p21.33 6 31761861 T null Y F 759 759 missense 0.725 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1562251778 6p21.33 6 31761864 G null Q R 760 760 missense 0.014 benign 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1811036900 6p21.33 6 31761866 C null V L 761 761 missense 0.0 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs750069319 6p21.33 6 31761872 A null E K 763 763 missense 0.01 benign 0.04 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1811038502 6p21.33 6 31761876 A null G D 764 764 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs760320865 6p21.33 6 31761879 C null V A 765 765 missense 0.078 benign 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs566679964 6p21.33 6 31761882 T null A V 766 766 0.000392465 missense 0.181 benign 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs754518812 6p21.33 6 31761887 C null A P 768 768 missense 0.671 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs779609564 6p21.33 6 31761892 A null S R 769 769 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs753220603 6p21.33 6 31761893 A null H N 770 770 missense 0.806 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs758863824 6p21.33 6 31761894 G null H R 770 770 missense 0.78 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs778148878 6p21.33 6 31761897 T null A V 771 771 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1581568470 6p21.33 6 31761909 T null A V 775 775 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1348605243 6p21.33 6 31761912 A null A D 776 776 missense 0.545 possibly damaging 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1811043866 6p21.33 6 31761911 A null A T 776 776 missense 0.012 benign 0.7 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1348605243 6p21.33 6 31761912 T null A V 776 776 missense 0.018 benign 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1225595574 6p21.33 6 31761916 C null Q H 777 777 missense 0.882 possibly damaging 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1268689405 6p21.33 6 31761921 A null G E 779 779 missense 0.909 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1467983020 6p21.33 6 31761924 C null L P 780 780 missense 0.99 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs771253756 6p21.33 6 31761927 T null P L 781 781 missense 0.991 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1211533286 6p21.33 6 31761926 T null P S 781 781 missense 0.988 probably damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1180604122 6p21.33 6 31761931 A null D E 782 782 missense 0.0 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1451775630 6p21.33 6 31761930 G null D G 782 782 missense 0.019 benign 0.29 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs781259202 6p21.33 6 31761932 G null K E 783 783 missense 0.001 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1159342042 6p21.33 6 31761934 T null K N 783 783 missense 0.03 benign 0.29 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1470869937 6p21.33 6 31761933 C null K T 783 783 missense 0.03 benign 0.33 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs745997271 6p21.33 6 31761936 C null L P 784 784 missense 0.96 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1449784203 6p21.33 6 31761938 A null V M 785 785 missense 0.379 benign 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1802127 UniProt:Ref.5 6p21.33 6 31762148 T null P S 786 786 missense 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1811050015 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31761942 T null A V 786 786 missense 0.049 benign 0.13 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1811050422 6p21.33 6 31761944 T null R C 787 787 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs769834225 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31761945 A null R H 787 787 missense 1.0 probably damaging 0.0 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs769834225 6p21.33 6 31761945 C null R P 787 787 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1811050422 6p21.33 6 31761944 A null R S 787 787 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1811051465 6p21.33 6 31761947 A null G S 788 788 missense 0.517 possibly damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1394531726 6p21.33 6 31762116 T null S L 792 792 missense 0.993 probably damaging 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs142634264 6p21.33 6 31762127 T null R C 796 796 missense 0.207 benign 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs142634264 6p21.33 6 31762127 G null R G 796 796 missense 0.75 possibly damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148601889 6p21.33 6 31762128 A null R H 796 796 missense 0.075 benign 0.01 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1811071216 6p21.33 6 31762130 G null S G 797 797 missense 0.049 benign 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1413060919 6p21.33 6 31762134 C null G A 798 798 missense 0.795 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1811072573 6p21.33 6 31762140 T null P L 800 800 missense 0.033 benign 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1811071895 6p21.33 6 31762139 T null P S 800 800 missense 0.033 benign 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs772116642 6p21.33 6 31762157 A null D N 806 806 missense 0.001 benign 0.17 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1340978672 6p21.33 6 31762162 T null L F 807 807 missense 0.771 possibly damaging 0.5 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs146473863 6p21.33 6 31762163 G null L V 808 808 missense 0.0 benign 0.57 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1484396931 6p21.33 6 31762166 C null K Q 809 809 missense 0.113 benign 0.21 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1251159425 6p21.33 6 31762171 C null K N 810 810 missense 0.0 benign 0.07 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1202856417 6p21.33 6 31762172 G null N D 811 811 missense 0.0 benign 0.41 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1202856417 6p21.33 6 31762172 C null N H 811 811 missense 0.305 benign 0.05 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs573697229 6p21.33 6 31762174 A null N K 811 811 0.000784929 missense 0.0 benign 0.96 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,gnomAD rs538970548 6p21.33 6 31762178 C null M L 813 813 0.000196232 missense 0.001 benign 0.43 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1811078493 6p21.33 6 31762181 C null E Q 814 814 missense 0.03 benign 0.33 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs759215400 6p21.33 6 31762185 G null N S 815 815 missense 0.078 benign 0.07 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs919795720 6p21.33 6 31762423 G null C W 816 816 missense 0.991 probably damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1811103424 6p21.33 6 31762424 A null Q K 817 817 missense 0.041 benign 0.56 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs866903702 6p21.33 6 31762433 C null V L 820 820 missense 0.725 possibly damaging 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs866903702 6p21.33 6 31762433 A null V M 820 820 missense 0.995 probably damaging 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs2151381949 6p21.33 6 31762437 G null D G 821 821 missense 0.164 benign 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs952525164 6p21.33 6 31762441 C null K N 822 822 missense 0.277 benign 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1811104537 6p21.33 6 31762440 C null K T 822 822 missense 0.049 benign 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs770781686 6p21.33 6 31762444 A null F L 823 823 missense 0.973 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs200703636 6p21.33 6 31762447 C null M I 824 824 missense 0.007 benign 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1363750231 6p21.33 6 31762446 C null M T 824 824 missense 0.057 benign 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs147878532 6p21.33 6 31762448 T null K * 825 825 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP rs141493879 6p21.33 6 31762456 A null D E 827 827 missense 0.963 probably damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1562253176 6p21.33 6 31762454 T null D Y 827 827 missense 0.992 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs189410690 6p21.33 6 31762457 A null L M 828 828 0.000196232 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1453194999 6p21.33 6 31762462 T null E D 829 829 missense 0.041 benign 0.53 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs775261672 6p21.33 6 31762460 A null E K 829 829 missense 0.863 possibly damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1811109113 6p21.33 6 31762469 G null N D 832 832 missense 0.0 benign 0.6 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1298811565 6p21.33 6 31762470 G null N S 832 832 missense 0.0 benign 0.56 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1811110470 6p21.33 6 31762477 G null D E 834 834 missense 0.863 possibly damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1287035563 6p21.33 6 31762476 G null D G 834 834 missense 0.765 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs984858871 6p21.33 6 31762478 A null L M 835 835 missense 0.983 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs763472304 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31762484 A null V I 837 837 missense 0.0 benign 0.2 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,gnomAD rs199880617 6p21.33 6 31762490 G null M V 839 839 0.000196232 missense 0.024 benign 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs774946202 6p21.33 6 31762496 G null Q E 841 841 missense 0.012 benign 0.95 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1220631009 6p21.33 6 31762520 G null S G 849 849 missense 0.001 benign 0.28 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1301597352 6p21.33 6 31762521 A null S N 849 849 missense 0.076 benign 0.25 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1301597352 6p21.33 6 31762521 C null S T 849 849 missense 0.001 benign 0.62 tolerated 0 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ESP,ExAC,TOPMed,gnomAD rs375248939 7q11.22 7 70764924 T null P S 5 5 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 TOPMed,gnomAD rs1183920669 7q11.22 7 70764942 T null P S 11 11 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ESP,ExAC,TOPMed,gnomAD rs369919917 7q11.22 7 70764985 T null P L 25 25 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,TOPMed,gnomAD rs772392460 7q11.22 7 70764990 A null G R 27 27 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 Ensembl,dbSNP rs1057517708 [ClinVar]: Autism spectrum disorder due to AUTS2 deficiency, [ClinVar]: Intellectual disability, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 7q11.22 7 70766128 T null R * 37 37 missense 1 Autism spectrum disorder due to AUTS2 deficiency (MRD26) MIM:615834 ClinVar:RCV001841277 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 Ensembl,dbSNP rs1057517708 [ClinVar]: Autism spectrum disorder due to AUTS2 deficiency, [ClinVar]: Intellectual disability, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 7q11.22 7 70766128 T null R * 37 37 missense 1 Intellectual disability pubmed:21956720,pubmed:25157020,pubmed:34131312,pubmed:34211152,ClinVar:RCV001260885 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 gnomAD rs1288588789 7q11.22 7 70766168 T null A V 50 50 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,gnomAD rs749711158 7q11.22 7 70766174 A null R H 52 52 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 TOPMed,dbSNP,dbSNP rs1184884717 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70766194 T null P S 59 59 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,TOPMed,gnomAD rs762837573 7q11.22 7 70766207 A null R Q 63 63 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 gnomAD rs1789931268 7q11.22 7 70766206 T null R W 63 63 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 Ensembl,dbSNP rs1554481763 7q11.22 7 70766227 T null Q * 70 70 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,dbSNP,dbSNP,gnomAD rs759371180 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70766240 G null Q R 74 74 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 TOPMed,dbSNP,dbSNP,gnomAD rs1384139715 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70766258 T null T M 80 80 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ESP,ExAC,TOPMed,dbSNP,gnomAD rs367855382 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70766305 A null A T 96 96 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,dbSNP,dbSNP,gnomAD rs769402743 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70766308 G null I V 97 97 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 TOPMed,dbSNP rs1359937867 7q11.22 7 70766315 T null P L 99 99 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,TOPMed,dbSNP,gnomAD rs773674679 [ClinVar]: Autism spectrum disorder due to AUTS2 deficiency 7q11.22 7 70768061 A null R Q 118 118 missense 1 Autism spectrum disorder due to AUTS2 deficiency (MRD26) MIM:615834 ClinVar:RCV001290369 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 Ensembl rs1585662548 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70771559 T null S F 124 124 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 TOPMed rs894978620 7q11.22 7 70771573 A null V M 129 129 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 1000Genomes,ExAC,TOPMed,gnomAD rs566822692 7q11.22 7 70771577 T null S L 130 130 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,dbSNP,gnomAD rs778369039 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Autism spectrum disorder due to AUTS2 deficiency 7q11.22 7 70771585 T null P S 133 133 missense 1 Autism spectrum disorder due to AUTS2 deficiency (MRD26) MIM:615834 ClinVar:RCV002272836 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs199756061 [ClinVar]: AUTS2-related disorder, [ClinVar]: Intellectual disability 7q11.22 7 70771588 G null P A 134 134 missense 1 AUTS2-related disorder ClinVar:RCV003957896 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs199756061 [ClinVar]: AUTS2-related disorder, [ClinVar]: Intellectual disability 7q11.22 7 70771588 G null P A 134 134 missense 1 Intellectual disability pubmed:21956720,pubmed:25157020,pubmed:34131312,pubmed:34211152,ClinVar:RCV001252430 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 gnomAD rs1183738885 7q11.22 7 70771606 A null G S 140 140 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs747841534 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70771609 T null P S 141 141 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 Ensembl rs1474398792 7q11.22 7 70774029 T null T I 153 153 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs146659460 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70774095 T null P L 175 175 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 Ensembl,dbSNP rs1790754677 7q11.22 7 70777121 A null A T 193 193 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 TOPMed,gnomAD rs1791091146 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70781663 C null E Q 227 227 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,dbSNP,dbSNP,gnomAD rs764564016 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70781726 T null A S 248 248 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,dbSNP,dbSNP,gnomAD rs748925591 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70781729 T null R W 249 249 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 TOPMed,gnomAD rs1203826984 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70784945 A null A D 259 259 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 gnomAD rs1173907576 7q11.22 7 70784956 G null T A 263 263 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 TOPMed,dbSNP,dbSNP,gnomAD rs1480946986 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70784998 T null L F 277 277 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ESP,ExAC,TOPMed,dbSNP,gnomAD rs199704244 [ClinVar]: Inborn genetic diseases 7q11.22 7 70785008 T null A V 280 280 missense 1 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002549608 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 TOPMed,gnomAD rs1791445199 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70786029 T null P S 309 309 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs747879933 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70786035 A null V I 311 311 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 dbSNP,gnomAD rs1158235085 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70787220 G null M V 316 316 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs747429714 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70787226 A null G S 318 318 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ESP,ExAC,TOPMed,gnomAD rs201841605 7q11.22 7 70787275 T null P L 334 334 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,gnomAD rs779121870 7q11.22 7 70787283 T null R W 337 337 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 Ensembl,dbSNP rs2129561031 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 7q11.22 7 70787292 T null R * 340 340 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 TOPMed,dbSNP,dbSNP rs868207585 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70787305 T null S L 344 344 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,TOPMed,gnomAD rs759015569 7q11.22 7 70787317 T null P L 348 348 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 TOPMed,gnomAD rs1791571667 7q11.22 7 70787320 T null P L 349 349 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 gnomAD rs1252233387 7q11.22 7 70787322 T null P S 350 350 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ESP,ExAC,TOPMed,gnomAD rs372882374 7q11.22 7 70787349 T null R C 359 359 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ESP,ExAC,TOPMed,gnomAD rs150219264 7q11.22 7 70787350 A null R H 359 359 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,TOPMed,dbSNP,gnomAD rs761661914 7q11.22 7 70787356 T null A V 361 361 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs750630131 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70787361 A null A T 363 363 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,gnomAD rs751635272 7q11.22 7 70787368 A null A D 365 365 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 TOPMed,dbSNP rs1554487952 [ClinVar]: Autism spectrum disorder due to AUTS2 deficiency, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 7q11.22 7 70787397 T null R * 375 375 missense 1 Autism spectrum disorder due to AUTS2 deficiency (MRD26) MIM:615834 ClinVar:RCV003144388 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,TOPMed,gnomAD rs778469209 7q11.22 7 70787398 A null R Q 375 375 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,dbSNP rs771663725 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70787431 T null R M 386 386 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,TOPMed,gnomAD rs751246676 7q11.22 7 70789755 A null V I 389 389 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs201055436 7q11.22 7 70789769 G null H Q 393 393 0.000196232 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ESP,ExAC,TOPMed,gnomAD rs371248372 7q11.22 7 70789795 C null V A 402 402 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 gnomAD rs1017455957 7q11.22 7 70789801 A null P Q 404 404 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 Ensembl,dbSNP rs750997066 7q11.22 7 70789824 T null R C 412 412 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 TOPMed,gnomAD rs1444618532 7q11.22 7 70789848 T null A S 420 420 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,TOPMed,gnomAD rs745581942 7q11.22 7 70789870 A null R Q 427 427 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 1000Genomes,ExAC,TOPMed,gnomAD rs199657836 7q11.22 7 70789869 T null R W 427 427 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 dbSNP,dbSNP,gnomAD rs1232698720 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70789890 C null E Q 434 434 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,gnomAD rs765669602 7q11.22 7 70789897 G null E G 436 436 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 1000Genomes,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs534033649 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70789909 T null S L 440 440 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 TOPMed,dbSNP,dbSNP,gnomAD rs976081207 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70789917 T null R C 443 443 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs138775036 [ClinVar]: Inborn genetic diseases, [ClinVar]: AUTS2-related disorder 7q11.22 7 70789918 A null R H 443 443 missense 1 AUTS2-related disorder ClinVar:RCV003921319 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs138775036 [ClinVar]: Inborn genetic diseases, [ClinVar]: AUTS2-related disorder 7q11.22 7 70789918 A null R H 443 443 missense 1 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002539663 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs763718023 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70789921 G null K R 444 444 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 TOPMed rs1791781068 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70789956 A null G S 456 456 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,TOPMed,gnomAD rs576715792 7q11.22 7 70789977 A null G R 463 463 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,gnomAD rs765267651 7q11.22 7 70789989 A null E K 467 467 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 TOPMed,dbSNP,dbSNP,gnomAD rs1437864529 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70789998 A null A T 470 470 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,TOPMed,dbSNP,gnomAD rs764683823 7q11.22 7 70790035 T null P L 482 482 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,TOPMed,gnomAD rs766336613 7q11.22 7 70790040 T null P S 484 484 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,dbSNP,dbSNP,gnomAD rs749321104 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790056 T null P L 489 489 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 Ensembl,dbSNP,dbSNP rs866376248 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790101 T null A V 504 504 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ESP,ExAC,TOPMed,gnomAD rs146263446 7q11.22 7 70790107 T null P L 506 506 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ESP,ExAC,TOPMed,gnomAD rs146263446 7q11.22 7 70790107 A null P Q 506 506 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,TOPMed,gnomAD rs767324991 7q11.22 7 70790121 T null P S 511 511 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 TOPMed rs1791806791 7q11.22 7 70790131 G null E G 514 514 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 gnomAD rs1169614213 7q11.22 7 70790134 T null N I 515 515 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 gnomAD rs1339956624 7q11.22 7 70790149-70790150CC T null S F 520 520 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 Ensembl rs747213045 7q11.22 7 70790151 A null E K 521 521 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,TOPMed,gnomAD rs770510009 7q11.22 7 70790173 A null R Q 528 528 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs748790164 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790172 T null R W 528 528 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ESP,ExAC,gnomAD rs377538146 7q11.22 7 70790181 T null D Y 531 531 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs750470894 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790230 T null P L 547 547 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs139511589 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790233 T null P L 548 548 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ESP,ExAC,gnomAD rs375599992 7q11.22 7 70790245 T null S F 552 552 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 Ensembl rs970084721 7q11.22 7 70790256 A null V M 556 556 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 TOPMed,gnomAD rs1220228952 7q11.22 7 70790262 T null P S 558 558 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 gnomAD rs1791824671 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790265 A null G R 559 559 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 TOPMed,gnomAD rs1472015866 7q11.22 7 70790283 T null P S 565 565 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,gnomAD rs755394081 7q11.22 7 70790302 T null T M 571 571 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 Ensembl rs866178263 7q11.22 7 70790305 A null G D 572 572 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,dbSNP,dbSNP,gnomAD rs768420169 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790346 T null R C 586 586 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs776489400 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790347 A null R H 586 586 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,TOPMed,gnomAD rs770191694 7q11.22 7 70790358 T null P S 590 590 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,TOPMed,dbSNP,gnomAD rs766592601 7q11.22 7 70790383 T null P L 598 598 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 dbSNP,gnomAD rs1057521756 7q11.22 7 70790400 T null P S 604 604 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 Ensembl rs1791842496 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790410 T null S F 607 607 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 gnomAD rs1186548561 7q11.22 7 70790431 T null R L 614 614 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 dbSNP,dbSNP,gnomAD rs1455506276 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790430 T null R W 614 614 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,gnomAD rs750104446 7q11.22 7 70790454 T null R * 622 622 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 Ensembl rs1791846857 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790472 T null R W 628 628 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs555021087 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790515 T null P L 642 642 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 Ensembl rs1791855155 7q11.22 7 70790533 T null T I 648 648 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,TOPMed,gnomAD rs751130860 7q11.22 7 70790560 T null S F 657 657 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 TOPMed,gnomAD rs1791860775 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790572 A null R Q 661 661 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 TOPMed rs1791860515 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790571 T null R W 661 661 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 Ensembl rs866904889 7q11.22 7 70790590 A null S N 667 667 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 Ensembl rs1791870268 7q11.22 7 70790623 T null S F 678 678 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ESP,ExAC,TOPMed,gnomAD rs371317370 7q11.22 7 70790650 A null R Q 687 687 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs747086851 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790655 A null G S 689 689 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 TOPMed,gnomAD rs1392559268 7q11.22 7 70790667 A null E K 693 693 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 TOPMed,gnomAD rs1791878332 7q11.22 7 70790671 A null R Q 694 694 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,dbSNP,dbSNP,gnomAD rs769208197 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790670 T null R W 694 694 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ESP,ExAC,TOPMed,dbSNP,gnomAD rs374217111 7q11.22 7 70790676 T null R C 696 696 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,TOPMed,gnomAD rs762343901 7q11.22 7 70790685 G null M V 699 699 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 gnomAD rs1204105147 7q11.22 7 70790703 A null E K 705 705 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ESP,ExAC,dbSNP,dbSNP,gnomAD rs376868075 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790713 A null R Q 708 708 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 TOPMed rs1168188278 7q11.22 7 70790712 T null R W 708 708 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs757165955 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790724 A null V M 712 712 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 Ensembl rs1585703712 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790733 A null A T 715 715 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 TOPMed,dbSNP,dbSNP,gnomAD rs1309460944 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790742 A null D N 718 718 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,dbSNP,dbSNP,gnomAD rs781201246 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790752 C null L P 721 721 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 Ensembl rs1791888702 7q11.22 7 70790761 T null P L 724 724 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs565725329 [ClinVar]: AUTS2-related disorder 7q11.22 7 70790764 A null S N 725 725 missense 1 AUTS2-related disorder ClinVar:RCV003948195 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 TOPMed,dbSNP,dbSNP,gnomAD rs1482454954 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790802 T null R C 738 738 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 TOPMed,gnomAD rs1039274139 7q11.22 7 70790851 T null P L 754 754 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 gnomAD rs1405917395 7q11.22 7 70790850 T null P S 754 754 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 1000Genomes,ExAC,dbSNP,gnomAD rs200355149 7q11.22 7 70790854 T null P L 755 755 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 Ensembl rs1791902472 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790871 A null A T 761 761 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,TOPMed,gnomAD rs755260791 7q11.22 7 70790893 T null T M 768 768 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,TOPMed,gnomAD rs752771406 7q11.22 7 70790904 T null R C 772 772 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 TOPMed,gnomAD rs1443011212 7q11.22 7 70790905 A null R H 772 772 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 TOPMed,gnomAD rs1342620208 7q11.22 7 70790917 T null P L 776 776 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 1000Genomes,TOPMed,dbSNP,gnomAD rs201704456 [ClinVar]: Autism spectrum disorder due to AUTS2 deficiency 7q11.22 7 70790923 A null R K 778 778 missense 1 Autism spectrum disorder due to AUTS2 deficiency (MRD26) MIM:615834 ClinVar:RCV001196401 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 1000Genomes,TOPMed,dbSNP,dbSNP,gnomAD rs1012077245 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790926 T null T M 779 779 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ExAC,TOPMed,gnomAD rs747651759 7q11.22 7 70790940 A null A T 784 784 missense 1 A0A024RDL5 AUTS2 Activator of transcription and developmental regulator AUTS2 ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs149469010 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790971 T null T M 794 794 missense 1 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1360144244 19p13.12 19 14072540 A null A D 2 2 missense 0.0 unknown 0.36 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1308330477 19p13.12 19 14072539 A null A T 2 2 missense 0.0 unknown 0.12 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1360144244 19p13.12 19 14072540 T null A V 2 2 missense 0.0 unknown 0.09 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1273610835 19p13.12 19 14072543 A null P H 3 3 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1217047430 19p13.12 19 14072545 T null Q * 4 4 stop gained 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1976602669 19p13.12 19 14072546 C null Q P 4 4 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1211784784 19p13.12 19 14072552 T null A V 6 6 missense 0.691 possibly damaging 0.02 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1271965995 19p13.12 19 14072555 A null G E 7 7 missense 0.97 probably damaging 0.34 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs915182845 19p13.12 19 14072554 A null G R 7 7 missense 0.98 probably damaging 0.03 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,gnomAD rs1447136106 19p13.12 19 14072558 T null P L 8 8 missense 0.856 possibly damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,gnomAD rs1447136106 19p13.12 19 14072558 G null P R 8 8 missense 0.908 possibly damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1348828673 19p13.12 19 14072561 A null G D 9 9 missense 0.97 probably damaging 0.16 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1976603197 19p13.12 19 14072567 A null G E 11 11 missense 0.97 probably damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1976603156 19p13.12 19 14072566 A null G R 11 11 missense 0.98 probably damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1239945515 19p13.12 19 14072576 T null S F 14 14 missense 0.692 possibly damaging 0.01 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1322507560 19p13.12 19 14072579 T null S F 15 15 missense 0.692 possibly damaging 0.07 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,ExAC,TOPMed,gnomAD rs540214875 19p13.12 19 14072581 G null K E 16 16 missense 0.497 possibly damaging 0.07 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1476458583 19p13.12 19 14072590 T null R C 19 19 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1476458583 19p13.12 19 14072590 G null R G 19 19 missense 0.0 benign 0.11 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1163471509 19p13.12 19 14072593 A null A T 20 20 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976603715 19p13.12 19 14072594 T null A V 20 20 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1234405170 19p13.12 19 14072954 A null G E 24 24 missense 0.97 probably damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1405934213 19p13.12 19 14072953 A null G R 24 24 missense 0.98 probably damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1234405170 19p13.12 19 14072954 T null G V 24 24 missense 0.98 probably damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976610949 19p13.12 19 14072957 T null P L 25 25 missense 0.856 possibly damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1976610847 19p13.12 19 14072956 T null P S 25 25 missense 0.81 possibly damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs778918837 19p13.12 19 14072960 A null G E 26 26 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1412634475 19p13.12 19 14072965 T null P S 28 28 missense 0.81 possibly damaging 0.19 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1336236771 19p13.12 19 14072968 G null R G 29 29 missense 0.3 benign 0.63 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1976611314 19p13.12 19 14072972 A null A D 30 30 missense 0.826 possibly damaging 0.02 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,TOPMed,gnomAD rs549667559 19p13.12 19 14072977 G null Q E 32 32 0.000196232 missense 0.095 benign 0.18 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs2145717763 19p13.12 19 14072984 A null S N 34 34 missense 0.393 benign 0.06 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1234561985 19p13.12 19 14072985 A null S R 34 34 missense 0.514 possibly damaging 0.06 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs935284075 19p13.12 19 14072986 T null P S 35 35 missense 0.81 possibly damaging 0.02 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1302598585 19p13.12 19 14072990 A null R K 36 36 missense 0.146 benign 0.89 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976611645 19p13.12 19 14072996 T null A V 38 38 missense 0.691 possibly damaging 0.01 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,TOPMed,gnomAD rs1950139611 19p13.12 19 14072998 A null A T 39 39 missense 0.691 possibly damaging 0.05 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1052352748 19p13.12 19 14072999 T null A V 39 39 missense 0.691 possibly damaging 0.09 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1976611814 19p13.12 19 14073004 A null L M 41 41 missense 0.826 possibly damaging 0.12 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1255943352 19p13.12 19 14073016 T null V F 45 45 missense 0.617 possibly damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1377488498 19p13.12 19 14073019 T null P S 46 46 missense 0.81 possibly damaging 0.07 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1438871359 19p13.12 19 14073023 G null K R 47 47 missense 0.497 possibly damaging 0.72 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1438871359 19p13.12 19 14073023 C null K T 47 47 missense 0.617 possibly damaging 0.02 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1599316805 19p13.12 19 14073031 A null A T 50 50 missense 0.691 possibly damaging 0.05 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1184666191 19p13.12 19 14073034 G null K E 51 51 missense 0.0 benign 0.12 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs893692580 19p13.12 19 14073040 T null V L 53 53 missense 0.205 benign 0.03 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs893692580 19p13.12 19 14073040 A null V M 53 53 missense 0.788 possibly damaging 0.01 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1439237510 19p13.12 19 14073043 A null E K 54 54 missense 0.497 possibly damaging 0.01 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976612454 19p13.12 19 14073046 G null I V 55 55 missense 0.0 benign 0.87 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1174347222 19p13.12 19 14073052 A null E K 57 57 missense 0.497 possibly damaging 0.13 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1383852895 19p13.12 19 14073057 C null Q H 58 58 missense 0.398 benign 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1397064637 19p13.12 19 14073056 G null Q R 58 58 missense 0.151 benign 0.21 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1433127120 19p13.12 19 14073058 T null E * 59 59 stop gained 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1599316824 19p13.12 19 14073060 C null E D 59 59 missense 0.398 benign 0.02 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1171747562 19p13.12 19 14073059 G null E G 59 59 missense 0.617 possibly damaging 0.01 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1430206255 19p13.12 19 14073067 A null V I 62 62 missense 0.205 benign 0.21 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1393047760 19p13.12 19 14073073 A null E K 64 64 missense 0.0 unknown 0.44 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1047211995 19p13.12 19 14073083 C null V A 67 67 missense 0.0 unknown 1.0 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1010930771 19p13.12 19 14073082 A null V I 67 67 missense 0.0 unknown 0.03 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1440928077 19p13.12 19 14073087 C null E D 68 68 missense 0.398 benign 0.18 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,ExAC,TOPMed,gnomAD rs571247061 19p13.12 19 14073086 G null E G 68 68 0.000588697 missense 0.617 possibly damaging 0.32 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1282031032 19p13.12 19 14073099 C null E D 72 72 missense 0.0 benign 0.42 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976613510 19p13.12 19 14073098 G null E G 72 72 missense 0.0 benign 0.19 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1599316850 19p13.12 19 14073100 G null S G 73 73 missense 0.302 benign 0.14 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1368289977 19p13.12 19 14073101 T null S I 73 73 missense 0.617 possibly damaging 0.21 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1368289977 19p13.12 19 14073101 A null S N 73 73 missense 0.393 benign 0.16 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1255748835 19p13.12 19 14073103 T null P S 74 74 missense 0.81 possibly damaging 0.37 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1198073096 19p13.12 19 14073106 C null G R 75 75 missense 0.98 probably damaging 0.01 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976613986 19p13.12 19 14073109 A null L M 76 76 missense 0.826 possibly damaging 0.06 tolerated - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1457728039 19p13.12 19 14073118 A null A T 79 79 missense 0.691 possibly damaging 0.02 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1976614301 19p13.12 19 14073125 A null G D 81 81 missense 0.97 probably damaging 0.01 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1327522614 19p13.12 19 14073131 G null E G 83 83 missense 0.617 possibly damaging 0.16 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1312532611 19p13.12 19 14073136 T null P S 85 85 missense 0.81 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976614687 19p13.12 19 14073141 C null E D 86 86 missense 0.398 benign 0.48 tolerated 0 A0A044PY82 MISP3 MISP family member 3 ExAC,TOPMed,gnomAD rs781480820 19p13.12 19 14073139 A null E K 86 86 missense 0.497 possibly damaging 0.73 tolerated 0 A0A044PY82 MISP3 MISP family member 3 ExAC,TOPMed,gnomAD rs781480820 19p13.12 19 14073139 C null E Q 86 86 missense 0.617 possibly damaging 0.4 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1377582059 19p13.12 19 14073142 A null P T 87 87 missense 0.81 possibly damaging 0.13 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs995836664 19p13.12 19 14073145 T null G C 88 88 missense 0.985 probably damaging 0.01 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1452785308 19p13.12 19 14073151 A null D N 90 90 missense 0.737 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976615155 19p13.12 19 14073160 A null G R 93 93 missense 0.98 probably damaging 0.16 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1373427008 19p13.12 19 14073169 A null E K 96 96 missense 0.0 benign 0.07 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1373427008 19p13.12 19 14073169 C null E Q 96 96 missense 0.0 benign 0.08 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1169721129 19p13.12 19 14073173 A null A E 97 97 missense 0.773 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1599316899 19p13.12 19 14073172 A null A T 97 97 missense 0.691 possibly damaging 0.15 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1772151920 19p13.12 19 14073176 G null Q R 98 98 missense 0.151 benign 1.0 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976615425 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.12 19 14073179 A null R K 99 99 missense 0.0 benign 1.0 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976615425 19p13.12 19 14073179 C null R T 99 99 missense 0.0 benign 0.21 tolerated 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1976615634 19p13.12 19 14073190 T null Q * 103 103 stop gained 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1976615739 19p13.12 19 14073191 G null Q R 103 103 missense 0.151 benign 0.46 tolerated 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,ExAC,TOPMed,gnomAD rs547015415 19p13.12 19 14073196 T null Q * 105 105 0.000784929 stop gained 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,ExAC,TOPMed,gnomAD rs116653656 19p13.12 19 14073199 T null H Y 106 106 0.0147174 missense 0.0 unknown 1.0 tolerated 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs2145718014 19p13.12 19 14073202 A null P T 107 107 missense 0.0 benign 0.04 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1004756764 19p13.12 19 14073206 T null P L 108 108 missense 0.856 possibly damaging 0.19 tolerated 0 A0A044PY82 MISP3 MISP family member 3 ExAC,TOPMed,gnomAD rs749573950 19p13.12 19 14073215 A null P H 111 111 missense 0.952 probably damaging 0.2 tolerated 0 A0A044PY82 MISP3 MISP family member 3 ExAC,TOPMed,gnomAD rs749573950 19p13.12 19 14073215 T null P L 111 111 missense 0.856 possibly damaging 0.33 tolerated 0 A0A044PY82 MISP3 MISP family member 3 ExAC,TOPMed,gnomAD rs749573950 19p13.12 19 14073215 G null P R 111 111 missense 0.908 possibly damaging 0.23 tolerated 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1219405610 19p13.12 19 14073217 G null K E 112 112 missense 0.0 benign 1.0 tolerated 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1599316942 19p13.12 19 14073220 C null T P 113 113 missense 0.711 possibly damaging 0.06 tolerated 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1197020487 19p13.12 19 14073224 G null S C 114 114 missense 0.848 possibly damaging 0.07 tolerated 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes rs536359855 19p13.12 19 14073223 C null S P 114 114 missense 0.514 possibly damaging 0.06 tolerated 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1197020487 19p13.12 19 14073224 A null S Y 114 114 missense 0.788 possibly damaging 0.37 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1276732536 19p13.12 19 14073233 T null R M 117 117 missense 0.711 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,ExAC,TOPMed,gnomAD rs560239360 19p13.12 19 14073234 T null R S 117 117 0.00117739 missense 0.412 benign 0.32 tolerated 0 A0A044PY82 MISP3 MISP family member 3 ExAC,gnomAD rs762361002 19p13.12 19 14073235 C null S P 118 118 missense 0.514 possibly damaging 0.07 tolerated 0 A0A044PY82 MISP3 MISP family member 3 ExAC,gnomAD rs770423062 19p13.12 19 14073238 C null G R 119 119 missense 0.003 benign 0.16 tolerated 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs529384554 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.12 19 14073242 T null S L 120 120 0.00353218 missense 0.514 possibly damaging 0.21 tolerated 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,ExAC,TOPMed,gnomAD rs529384554 19p13.12 19 14073242 G null S W 120 120 0.00353218 missense 0.883 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1023241325 19p13.12 19 14073244 C null E Q 121 121 missense 0.617 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1262620690 19p13.12 19 14073248 A null A D 122 122 missense 0.826 possibly damaging 0.18 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1262620690 19p13.12 19 14073248 T null A V 122 122 missense 0.691 possibly damaging 0.16 tolerated 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1430542125 19p13.12 19 14073251 T null P L 123 123 missense 0.856 possibly damaging 0.11 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1348844462 19p13.12 19 14073250 T null P S 123 123 missense 0.81 possibly damaging 0.16 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1392044649 19p13.12 19 14073254 T null H L 124 124 missense 0.412 benign 0.31 tolerated 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs969131978 19p13.12 19 14073253 A null H N 124 124 missense 0.223 benign 0.11 tolerated 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1190712061 19p13.12 19 14073256 G null L V 125 125 missense 0.578 possibly damaging 0.04 deleterious 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1599316990 19p13.12 19 14073264 G null F L 127 127 missense 0.302 benign 0.04 deleterious 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1475482338 19p13.12 19 14073268 T null P S 129 129 missense 0.81 possibly damaging 0.24 tolerated 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1167093199 19p13.12 19 14073273 A null C * 130 130 stop gained 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1456911449 19p13.12 19 14073277 A null E K 132 132 missense 0.497 possibly damaging 0.18 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1162615656 19p13.12 19 14073283 T null P S 134 134 missense 0.81 possibly damaging 0.04 deleterious 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1976617950 19p13.12 19 14073288 T null Q H 135 135 missense 0.398 benign 0.04 deleterious 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,TOPMed,gnomAD rs981882078 19p13.12 19 14073293 T null P L 137 137 missense 0.856 possibly damaging 0.15 tolerated 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,TOPMed,gnomAD rs981882078 19p13.12 19 14073293 G null P R 137 137 missense 0.908 possibly damaging 0.03 deleterious 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1976618117 19p13.12 19 14073296 T null P L 138 138 missense 0.856 possibly damaging 0.14 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1214918326 19p13.12 19 14073298 A null E K 139 139 missense 0.497 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs2145718162 19p13.12 19 14073301 A null E K 140 140 missense 0.497 possibly damaging 0.02 deleterious - low confidence 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1340357201 19p13.12 19 14073304 T null R W 141 141 missense 0.007 benign 0.04 deleterious 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs2145718178 19p13.12 19 14073307 A null F I 142 142 missense 0.514 possibly damaging 0.31 tolerated 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1976618654 19p13.12 19 14073310 G null M V 143 143 missense 0.045 benign 0.02 deleterious 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1976618907 19p13.12 19 14073319 T null P S 146 146 missense 0.81 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs915176304 19p13.12 19 14073324 G null I M 147 147 missense 0.516 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1295579044 19p13.12 19 14073323 A null I N 147 147 missense 0.516 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976619162 19p13.12 19 14073331 T null E * 150 150 stop gained 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1437934301 19p13.12 19 14073336 G null I M 151 151 missense 0.516 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1599317044 19p13.12 19 14073335 C null I T 151 151 missense 0.3 benign 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1320454469 19p13.12 19 14073338 A null R H 152 152 missense 0.711 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 ExAC,TOPMed,gnomAD rs762626515 19p13.12 19 14073340 T null R C 153 153 missense 0.833 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 ExAC,TOPMed,gnomAD rs762626515 19p13.12 19 14073340 A null R S 153 153 missense 0.412 benign 0.06 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs912819200 19p13.12 19 14073348 A null C * 155 155 stop gained 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1976619592 19p13.12 19 14073346 G null C G 155 155 missense 0.412 benign 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs912819200 19p13.12 19 14073348 G null C W 155 155 missense 0.833 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1261421892 19p13.12 19 14073355 T null E * 158 158 stop gained 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,ExAC,TOPMed,gnomAD rs558846444 19p13.12 19 14073357 T null E D 158 158 missense 0.398 benign 0.0 deleterious 1 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1261421892 19p13.12 19 14073355 A null E K 158 158 missense 0.497 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 ExAC,TOPMed,gnomAD rs751530064 19p13.12 19 14073360 C null E D 159 159 missense 0.398 benign 0.06 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1039750571 19p13.12 19 14073362 A null S N 160 160 missense 0.0 unknown 0.23 tolerated 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1976620300 19p13.12 19 14073368 A null R H 162 162 missense 0.711 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1976620419 19p13.12 19 14073371 T null R L 163 163 missense 0.3 benign 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1976620419 19p13.12 19 14073371 C null R P 163 163 missense 0.516 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs899833833 19p13.12 19 14073377 C null R P 165 165 missense 0.516 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs899833833 19p13.12 19 14073377 A null R Q 165 165 missense 0.412 benign 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1321634302 19p13.12 19 14073376 T null R W 165 165 missense 0.833 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976620770 19p13.12 19 14073379 A null G S 166 166 missense 0.934 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1438702968 19p13.12 19 14073385 G null S G 168 168 missense 0.302 benign 0.16 tolerated 0 A0A044PY82 MISP3 MISP family member 3 ExAC rs757334792 19p13.12 19 14073386 A null S N 168 168 missense 0.393 benign 0.04 deleterious 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1159152107 19p13.12 19 14073389 T null P L 169 169 missense 0.0 benign 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1451155091 19p13.12 19 14073392 A null G D 170 170 missense 0.97 probably damaging 0.07 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1976621191 19p13.12 19 14073391 C null G R 170 170 missense 0.98 probably damaging 0.11 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1599317100 19p13.12 19 14073394 T null R C 171 171 missense 0.833 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs934105122 19p13.12 19 14073397 C null A P 172 172 missense 0.826 possibly damaging 0.02 deleterious 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1976621417 19p13.12 19 14073400 T null G C 173 173 missense 0.985 probably damaging 0.05 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1157741973 19p13.12 19 14073403 T null R C 174 174 missense 0.833 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1157741973 19p13.12 19 14073403 A null R S 174 174 missense 0.412 benign 0.34 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1375682598 19p13.12 19 14073413 C null V A 177 177 missense 0.302 benign 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1375682598 19p13.12 19 14073413 G null V G 177 177 missense 0.514 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,ExAC,TOPMed,gnomAD rs8104055 19p13.12 19 14073415 C null E Q 178 178 0.0635793 missense 0.617 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1976621858 19p13.12 19 14073418 G null L V 179 179 missense 0.578 possibly damaging 0.59 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs931743754 19p13.12 19 14073421 A null R S 180 180 missense 0.412 benign 0.02 deleterious 0 A0A044PY82 MISP3 MISP family member 3 ExAC,TOPMed,gnomAD rs756242699 19p13.12 19 14073424 C null V L 181 181 missense 0.205 benign 0.23 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976622086 19p13.12 19 14073428 A null R Q 182 182 missense 0.412 benign 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1645355568 19p13.12 19 14073427 T null R W 182 182 missense 0.833 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1043399460 19p13.12 19 14073431 T null P L 183 183 missense 0.856 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1043399460 19p13.12 19 14073431 G null P R 183 183 missense 0.908 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs903493573 19p13.12 19 14073434 C null V A 184 184 missense 0.302 benign 0.05 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs999210415 19p13.12 19 14073436 T null L F 185 185 missense 0.773 possibly damaging 0.02 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs999210415 19p13.12 19 14073436 G null L V 185 185 missense 0.578 possibly damaging 0.07 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1052747128 19p13.12 19 14073440 G null N S 186 186 missense 0.497 possibly damaging 1.0 tolerated 1 A0A044PY82 MISP3 MISP family member 3 TOPMed,dbSNP,dbSNP,gnomAD rs896435341 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.12 19 14073446 T null P L 188 188 missense 0.856 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs896435341 19p13.12 19 14073446 G null P R 188 188 missense 0.908 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs777109852 19p13.12 19 14073448 C null G R 189 189 missense 0.98 probably damaging 0.1 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1236599250 19p13.12 19 14073458 T null P L 192 192 missense 0.856 possibly damaging 0.02 deleterious 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1976623325 19p13.12 19 14073464 G null L R 194 194 missense 0.887 possibly damaging 0.15 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1023489515 19p13.12 19 14073470 A null R H 196 196 missense 0.711 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1416724403 19p13.12 19 14073469 A null R S 196 196 missense 0.412 benign 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1976623599 19p13.12 19 14073472 T null A S 197 197 missense 0.578 possibly damaging 0.23 tolerated 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs7258963 19p13.12 19 14074414 C null V A 198 198 missense 1 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976623686 19p13.12 19 14073476 A null L Q 198 198 missense 0.011 benign 0.08 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs969429163 19p13.12 19 14073479 G null E G 199 199 missense 0.617 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976623741 19p13.12 19 14073478 C null E Q 199 199 missense 0.617 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs995519894 19p13.12 19 14073482 T null R L 200 200 missense 0.3 benign 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs995519894 19p13.12 19 14073482 C null R P 200 200 missense 0.516 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1976623985 19p13.12 19 14073481 T null R W 200 200 missense 0.833 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1976624166 19p13.12 19 14073485 A null A E 201 201 missense 0.773 possibly damaging 0.15 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1401071081 19p13.12 19 14073484 A null A T 201 201 missense 0.691 possibly damaging 0.05 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976624224 19p13.12 19 14073488 A null R Q 202 202 missense 0.412 benign 0.27 tolerated 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1976624285 19p13.12 19 14073491 A null A E 203 203 missense 0.773 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976624527 19p13.12 19 14073496 T null A S 205 205 missense 0.578 possibly damaging 0.1 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs28477837 19p13.12 19 14073501 T null Q H 206 206 missense 0.398 benign 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1976624736 19p13.12 19 14073505 T null Q * 208 208 stop gained 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976624793 19p13.12 19 14073507 C null Q H 208 208 missense 0.398 benign 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1395115679 19p13.12 19 14073509 C null R P 209 209 missense 0.516 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1395115679 19p13.12 19 14073509 A null R Q 209 209 missense 0.412 benign 0.06 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976625081 19p13.12 19 14073511 A null D N 210 210 missense 0.737 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1568514913 19p13.12 19 14073514 T null I F 211 211 missense 0.412 benign 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1976625245 19p13.12 19 14073517 C null E Q 212 212 missense 0.617 possibly damaging 0.61 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1188543025 19p13.12 19 14073521 T null R L 213 213 missense 0.3 benign 0.08 tolerated 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs2145718563 19p13.12 19 14073526 A null A T 215 215 missense 0.691 possibly damaging 0.33 tolerated 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1395258007 19p13.12 19 14073529 A null H N 216 216 missense 0.0 benign 0.17 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1027043919 19p13.12 19 14073533 T null R L 217 217 missense 0.3 benign 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1027043919 19p13.12 19 14073533 A null R Q 217 217 missense 0.412 benign 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1216934658 19p13.12 19 14073539 A null A E 219 219 missense 0.773 possibly damaging 1.0 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1216934658 19p13.12 19 14073539 T null A V 219 219 missense 0.691 possibly damaging 0.11 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1442142403 19p13.12 19 14073544 G null L V 221 221 missense 0.578 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1976626027 19p13.12 19 14073551 A null R H 223 223 missense 0.711 possibly damaging 0.1 tolerated 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1976626182 19p13.12 19 14073556 C null A P 225 225 missense 0.826 possibly damaging 0.03 deleterious 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1976626246 19p13.12 19 14073557 T null A V 225 225 missense 0.691 possibly damaging 0.04 deleterious 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs964159897 19p13.12 19 14073560 C null V A 226 226 missense 0.0 benign 0.41 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976626380 19p13.12 19 14073559 T null V F 226 226 missense 0.006 benign 0.04 deleterious 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,gnomAD rs554232124 19p13.12 19 14073567 C null E D 228 228 0.000196232 missense 0.398 benign 0.44 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1177175894 19p13.12 19 14073569 T null P L 229 229 missense 0.0 benign 0.38 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1177175894 19p13.12 19 14073569 G null P R 229 229 missense 0.0 benign 0.6 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976626741 19p13.12 19 14073571 A null R S 230 230 missense 0.412 benign 0.37 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs879391818 19p13.12 19 14073575 A null A D 231 231 missense 0.826 possibly damaging 0.81 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs879391818 19p13.12 19 14073575 T null A V 231 231 missense 0.691 possibly damaging 0.46 tolerated 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,TOPMed,gnomAD rs572316093 19p13.12 19 14073577 G null R G 232 232 missense 0.0 benign 0.16 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1976626880 19p13.12 19 14073578 C null R P 232 232 missense 0.001 benign 0.05 tolerated 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,TOPMed,gnomAD rs572316093 19p13.12 19 14073577 T null R W 232 232 missense 0.046 benign 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1357838001 19p13.12 19 14073581 A null S * 233 233 stop gained 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1339613863 19p13.12 19 14073580 G null S A 233 233 missense 0.205 benign 0.1 tolerated 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1357838001 19p13.12 19 14073581 T null S L 233 233 missense 0.514 possibly damaging 0.05 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1339613863 19p13.12 19 14073580 C null S P 233 233 missense 0.514 possibly damaging 0.53 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs947551139 19p13.12 19 14073584 T null P L 234 234 missense 0.856 possibly damaging 0.16 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1436176016 19p13.12 19 14073587 A null P Q 235 235 missense 0.908 possibly damaging 0.21 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1375568264 19p13.12 19 14073593 A null P Q 237 237 missense 0.908 possibly damaging 0.23 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1375568264 19p13.12 19 14073593 G null P R 237 237 missense 0.908 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,TOPMed,gnomAD rs1043473513 19p13.12 19 14073596 A null L Q 238 238 missense 0.887 possibly damaging 0.0 deleterious 1 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1472692778 19p13.12 19 14073604 T null L F 241 241 missense 0.773 possibly damaging 0.06 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976627701 19p13.12 19 14073607 G null K E 242 242 missense 0.497 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,TOPMed,gnomAD rs934981979 19p13.12 19 14073610 T null R C 243 243 missense 0.833 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1376177575 19p13.12 19 14073611 A null R H 243 243 missense 0.711 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976628057 19p13.12 19 14073613 C null F L 244 244 missense 0.302 benign 0.28 tolerated 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1444587105 19p13.12 19 14073629 T null A V 249 249 missense 0.691 possibly damaging 0.14 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976628278 19p13.12 19 14073632 A null G E 250 250 missense 0.97 probably damaging 0.43 tolerated 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1976628347 19p13.12 19 14073634 T null S C 251 251 missense 0.848 possibly damaging 0.29 tolerated 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1976628406 19p13.12 19 14073637 T null G C 252 252 missense 0.985 probably damaging 0.06 tolerated 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1976628406 19p13.12 19 14073637 A null G S 252 252 missense 0.934 probably damaging 0.6 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1215042251 19p13.12 19 14073638 T null G V 252 252 missense 0.98 probably damaging 0.17 tolerated 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1976628501 19p13.12 19 14073644 T null S L 254 254 missense 0.514 possibly damaging 0.18 tolerated 1 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1976628806 19p13.12 19 14073650 A null G E 256 256 missense 0.97 probably damaging 0.26 tolerated 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs974672026 19p13.12 19 14073653 G null A G 257 257 missense 0.578 possibly damaging 0.06 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976628857 19p13.12 19 14073652 C null A P 257 257 missense 0.826 possibly damaging 0.03 deleterious 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs974672026 19p13.12 19 14073653 T null A V 257 257 missense 0.691 possibly damaging 0.2 tolerated 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1027145356 19p13.12 19 14073659 G null D G 259 259 missense 0.0 benign 1.0 tolerated 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1961487904 19p13.12 19 14073658 A null D N 259 259 missense 0.0 benign 0.49 tolerated 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1976629267 19p13.12 19 14073665 T null A V 261 261 missense 0.691 possibly damaging 0.2 tolerated 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1976629444 19p13.12 19 14073668 A null G D 262 262 missense 0.97 probably damaging 0.29 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976629613 19p13.12 19 14073673 T null Q * 264 264 stop gained 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1976629690 19p13.12 19 14073677 A null R K 265 265 missense 0.0 benign 0.33 tolerated 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,gnomAD rs1220662292 19p13.12 19 14073678 T null R S 265 265 missense 0.0 benign 0.53 tolerated 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1976629862 19p13.12 19 14073682 G null P A 267 267 missense 0.737 possibly damaging 0.2 tolerated 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1371951844 19p13.12 19 14073685 T null E * 268 268 stop gained 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs12982998 19p13.12 19 14073689 A null P H 269 269 missense 0.952 probably damaging 0.11 tolerated 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs2145718817 19p13.12 19 14073692 C null G A 270 270 missense 0.902 possibly damaging 0.08 tolerated 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1976630253 19p13.12 19 14073695 A null G E 271 271 missense 0.97 probably damaging 0.03 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs905009808 19p13.12 19 14073698 C null R P 272 272 missense 0.0 benign 0.09 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1236827527 19p13.12 19 14073701 T null P L 273 273 missense 0.0 benign 0.2 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1236827527 19p13.12 19 14073701 G null P R 273 273 missense 0.0 benign 0.24 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976630527 19p13.12 19 14073700 A null P T 273 273 missense 0.0 benign 0.12 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976630739 19p13.12 19 14073704 A null R H 274 274 missense 0.711 possibly damaging 0.3 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976630739 19p13.12 19 14073704 T null R L 274 274 missense 0.3 benign 0.14 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1270409133 19p13.12 19 14073707 T null S L 275 275 missense 0.514 possibly damaging 0.15 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1416195313 19p13.12 19 14073709 A null A T 276 276 missense 0.691 possibly damaging 0.26 tolerated 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1976631382 19p13.12 19 14073712 A null V M 277 277 missense 0.788 possibly damaging 0.06 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs995301078 19p13.12 19 14073719 A null G D 279 279 missense 0.97 probably damaging 0.2 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1026994865 19p13.12 19 14073721 A null G R 280 280 missense 0.0 benign 0.83 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1976632085 19p13.12 19 14073725 A null C Y 281 281 missense 0.598 possibly damaging 0.2 tolerated 0 A0A044PY82 MISP3 MISP family member 3 ExAC,TOPMed,gnomAD rs56051282 19p13.12 19 14073728 T null R L 282 282 missense 0.0 benign 0.12 tolerated 0 A0A044PY82 MISP3 MISP family member 3 ExAC,TOPMed,gnomAD rs56051282 19p13.12 19 14073728 C null R P 282 282 missense 0.0 benign 1.0 tolerated 0 A0A044PY82 MISP3 MISP family member 3 ExAC,TOPMed,gnomAD rs56051282 19p13.12 19 14073728 A null R Q 282 282 missense 0.0 benign 0.1 tolerated 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1456403725 19p13.12 19 14073727 T null R W 282 282 missense 0.007 benign 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1455290146 19p13.12 19 14073731 C null V A 283 283 missense 0.302 benign 0.09 tolerated 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1484331314 19p13.12 19 14073730 A null V M 283 283 missense 0.788 possibly damaging 0.02 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1197880146 19p13.12 19 14073736 C null G R 285 285 missense 0.003 benign 0.08 tolerated 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,ExAC,TOPMed,gnomAD rs772509019 19p13.12 19 14073740 T null S I 286 286 missense 0.0 benign 0.02 deleterious 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,ExAC,TOPMed,gnomAD rs772509019 19p13.12 19 14073740 A null S N 286 286 missense 0.0 benign 0.13 tolerated 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1432900179 19p13.12 19 14073741 G null S R 286 286 missense 0.0 benign 1.0 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976633156 19p13.12 19 14073743 G null A G 287 287 missense 0.578 possibly damaging 0.03 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976633156 19p13.12 19 14073743 T null A V 287 287 missense 0.691 possibly damaging 0.02 deleterious 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1976633356 19p13.12 19 14073746 T null P L 288 288 missense 0.856 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1234915712 19p13.12 19 14073745 T null P S 288 288 missense 0.81 possibly damaging 0.11 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1171583513 19p13.12 19 14073749 A null P Q 289 289 missense 0.908 possibly damaging 0.06 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1171583513 19p13.12 19 14073749 G null P R 289 289 missense 0.908 possibly damaging 0.02 deleterious 0 A0A044PY82 MISP3 MISP family member 3 ExAC,TOPMed,gnomAD rs760190957 19p13.12 19 14073752 T null P L 290 290 missense 0.856 possibly damaging 0.15 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs921533572 19p13.12 19 14073761 T null P L 293 293 missense 0.856 possibly damaging 0.19 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs921533572 19p13.12 19 14073761 A null P Q 293 293 missense 0.908 possibly damaging 0.36 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs921533572 19p13.12 19 14073761 G null P R 293 293 missense 0.908 possibly damaging 0.05 tolerated 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,ExAC,TOPMed,gnomAD rs143802484 19p13.12 19 14073760 T null P S 293 293 missense 0.81 possibly damaging 0.08 tolerated 1 A0A044PY82 MISP3 MISP family member 3 1000Genomes,ExAC,TOPMed,gnomAD rs143802484 19p13.12 19 14073760 A null P T 293 293 missense 0.81 possibly damaging 0.11 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1273230248 19p13.12 19 14073772 A null E K 297 297 missense 0.497 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1273230248 19p13.12 19 14073772 C null E Q 297 297 missense 0.617 possibly damaging 0.03 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976634595 19p13.12 19 14073775 G null Q E 298 298 missense 0.095 benign 0.14 tolerated 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1367186156 19p13.12 19 14073776 C null Q P 298 298 missense 0.302 benign 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1976634860 19p13.12 19 14073781 A null V M 300 300 missense 0.788 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976635001 19p13.12 19 14073787 T null A S 302 302 missense 0.578 possibly damaging 0.05 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976635001 19p13.12 19 14073787 A null A T 302 302 missense 0.691 possibly damaging 0.07 tolerated 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1297494711 19p13.12 19 14073791 C null V A 303 303 missense 0.302 benign 0.39 tolerated 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1297494711 19p13.12 19 14073791 A null V E 303 303 missense 0.617 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1297494711 19p13.12 19 14073791 G null V G 303 303 missense 0.514 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1315951935 19p13.12 19 14073794 C null R P 304 304 missense 0.516 possibly damaging 0.04 deleterious 0 A0A044PY82 MISP3 MISP family member 3 ExAC,TOPMed,gnomAD rs769388704 19p13.12 19 14073796 T null E * 305 305 stop gained 0 A0A044PY82 MISP3 MISP family member 3 ExAC,TOPMed,gnomAD rs769388704 19p13.12 19 14073796 A null E K 305 305 missense 0.497 possibly damaging 0.07 tolerated 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,ExAC,TOPMed,gnomAD rs142911990 19p13.12 19 14073799 A null R S 306 306 missense 0.412 benign 0.0 deleterious 1 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1218749595 19p13.12 19 14073804 T null E D 307 307 missense 0.398 benign 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1599317424 19p13.12 19 14073803 G null E G 307 307 missense 0.617 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1403092680 19p13.12 19 14073802 C null E Q 307 307 missense 0.617 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1468767496 19p13.12 19 14073808 A null E K 309 309 missense 0.497 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1307194526 19p13.12 19 14073816 C null Q H 311 311 missense 0.398 benign 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1213263531 19p13.12 19 14073815 C null Q P 311 311 missense 0.302 benign 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1213263531 19p13.12 19 14073815 G null Q R 311 311 missense 0.151 benign 0.12 tolerated 0 A0A044PY82 MISP3 MISP family member 3 ExAC,TOPMed,gnomAD rs762726115 19p13.12 19 14073818 A null R H 312 312 missense 0.711 possibly damaging 0.04 deleterious 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1568515078 19p13.12 19 14073817 A null R S 312 312 missense 0.412 benign 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 ExAC,gnomAD rs763792410 19p13.12 19 14073820 A null Q K 313 313 missense 0.095 benign 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1426289043 19p13.12 19 14073821 C null Q P 313 313 missense 0.302 benign 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1426289043 19p13.12 19 14073821 G null Q R 313 313 missense 0.151 benign 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1170677386 19p13.12 19 14073824 A null R Q 314 314 missense 0.412 benign 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1477118812 19p13.12 19 14073823 T null R W 314 314 missense 0.833 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs988197162 19p13.12 19 14073827 T null R L 315 315 missense 0.3 benign 0.89 tolerated 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1463024022 19p13.12 19 14073830 T null S I 316 316 missense 0.617 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1463024022 19p13.12 19 14073830 A null S N 316 316 missense 0.393 benign 0.07 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1349475445 19p13.12 19 14073832 T null V F 317 317 missense 0.617 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1349475445 19p13.12 19 14073832 C null V L 317 317 missense 0.205 benign 0.7 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1455595457 19p13.12 19 14073837 A null Y * 318 318 stop gained 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976637798 19p13.12 19 14073836 G null Y C 318 318 missense 0.883 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,ExAC,TOPMed,gnomAD rs532293955 19p13.12 19 14073839 A null G D 319 319 0.000196232 missense 0.97 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,TOPMed,gnomAD rs1290388774 19p13.12 19 14073845 A null A E 321 321 missense 0.773 possibly damaging 0.02 deleterious 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,TOPMed rs1976637968 19p13.12 19 14073844 T null A S 321 321 missense 0.578 possibly damaging 0.26 tolerated 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,TOPMed rs1976637968 19p13.12 19 14073844 A null A T 321 321 missense 0.691 possibly damaging 0.14 tolerated 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,TOPMed,gnomAD rs1290388774 19p13.12 19 14073845 T null A V 321 321 missense 0.691 possibly damaging 0.13 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs949090098 19p13.12 19 14073849 C null E D 322 322 missense 0.398 benign 0.16 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976638233 19p13.12 19 14073852 G null F L 323 323 missense 0.302 benign 0.15 tolerated 0 A0A044PY82 MISP3 MISP family member 3 ExAC,TOPMed,gnomAD rs762478898 19p13.12 19 14073854 G null K R 324 324 missense 0.497 possibly damaging 0.06 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs905127799 19p13.12 19 14073858 T null E D 325 325 missense 0.398 benign 0.11 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs12983322 19p13.12 19 14073860 A null P H 326 326 missense 0.952 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs12983322 19p13.12 19 14073860 T null P L 326 326 missense 0.856 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs12983322 19p13.12 19 14073860 G null P R 326 326 missense 0.908 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1336876257 19p13.12 19 14073863 A null T K 327 327 missense 0.617 possibly damaging 0.03 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1336876257 19p13.12 19 14073863 T null T M 327 327 missense 0.895 possibly damaging 0.03 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1048257896 19p13.12 19 14073869 T null S I 329 329 missense 0.617 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs2145719138 19p13.12 19 14073868 C null S R 329 329 missense 0.514 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1288570953 19p13.12 19 14073870 A null S R 329 329 missense 0.514 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1023297015 19p13.12 19 14073871 T null L F 330 330 missense 0.773 possibly damaging 0.11 tolerated 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs2145719150 19p13.12 19 14073874 C null T P 331 331 missense 0.711 possibly damaging 0.17 tolerated 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1186891041 19p13.12 19 14074390 A null A E 332 332 missense 0.773 possibly damaging 0.37 tolerated 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1487472088 19p13.12 19 14073877 C null A P 332 332 missense 0.826 possibly damaging 0.08 tolerated 0 A0A044PY82 MISP3 MISP family member 3 Ensembl rs1186891041 19p13.12 19 14074390 T null A V 332 332 missense 0.691 possibly damaging 0.13 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1281476346 19p13.12 19 14074393 T null S I 333 333 missense 0.617 possibly damaging 0.05 deleterious 1 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1199101015 19p13.12 19 14074399 A null G D 335 335 missense 0.97 probably damaging 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs908518646 19p13.12 19 14074398 A null G S 335 335 missense 0.934 probably damaging 0.21 tolerated 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1199101015 19p13.12 19 14074399 T null G V 335 335 missense 0.98 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs940157465 19p13.12 19 14074403 A null D E 336 336 missense 0.631 possibly damaging 0.04 deleterious 0 A0A044PY82 MISP3 MISP family member 3 ExAC,TOPMed,gnomAD rs779120575 19p13.12 19 14074401 A null D N 336 336 missense 0.737 possibly damaging 0.06 tolerated 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1438922841 19p13.12 19 14074405 A null G E 337 337 missense 0.97 probably damaging 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1200566468 19p13.12 19 14074412 C null L F 339 339 missense 0.773 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,ExAC,TOPMed,gnomAD rs7258963 19p13.12 19 14074414 G null V G 340 340 missense 0.0 benign 0.02 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976653898 19p13.12 19 14074416 A null V M 341 341 missense 0.788 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1024720136 19p13.12 19 14074422 C null W R 343 343 missense 0.788 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes rs571843273 19p13.12 19 14074423 C null W S 343 343 0.000196232 missense 0.617 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 ExAC,TOPMed,gnomAD rs772454436 19p13.12 19 14074426 T null P L 344 344 missense 0.856 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1439297769 19p13.12 19 14074425 T null P S 344 344 missense 0.81 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1476884246 19p13.12 19 14074429 A null P H 345 345 missense 0.952 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1397071286 19p13.12 19 14074431 G null R G 346 346 missense 0.3 benign 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,ExAC,TOPMed,gnomAD rs554467018 19p13.12 19 14074432 A null R H 346 346 missense 0.711 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1397071286 19p13.12 19 14074431 A null R S 346 346 missense 0.412 benign 0.16 tolerated 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1328660372 19p13.12 19 14074435 A null R K 347 347 missense 0.146 benign 0.03 deleterious 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1328660372 19p13.12 19 14074435 C null R T 347 347 missense 0.412 benign 0.02 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1003518665 19p13.12 19 14074439 T null K N 348 348 missense 0.617 possibly damaging 0.16 tolerated 0 A0A044PY82 MISP3 MISP family member 3 ExAC,gnomAD rs747601725 19p13.12 19 14074438 G null K R 348 348 missense 0.497 possibly damaging 0.08 tolerated 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,ExAC,TOPMed,gnomAD rs572407856 19p13.12 19 14074440 T null V F 349 349 0.000196232 missense 0.617 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,ExAC,TOPMed,gnomAD rs572407856 19p13.12 19 14074440 C null V L 349 349 0.000196232 missense 0.205 benign 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976655677 19p13.12 19 14074453 T null G V 353 353 missense 0.98 probably damaging 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1056173763 19p13.12 19 14074459 G null E G 355 355 missense 0.617 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs952395022 19p13.12 19 14074458 A null E K 355 355 missense 0.497 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1312779781 19p13.12 19 14074463 T null Q H 356 356 missense 0.398 benign 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976661833 19p13.12 19 14074706 T null E * 357 357 stop gained 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,ExAC,TOPMed,gnomAD rs370521113 19p13.12 19 14074712 T null R C 359 359 0.000981162 missense 0.833 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed rs1976662142 19p13.12 19 14074713 T null R L 359 359 missense 0.3 benign 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,ExAC,TOPMed,gnomAD rs370521113 19p13.12 19 14074712 A null R S 359 359 0.000981162 missense 0.412 benign 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 1000Genomes,ExAC,TOPMed,gnomAD rs760728666 19p13.12 19 14074717 C null K N 360 360 missense 0.617 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1818962875 19p13.12 19 14074719 T null P L 361 361 missense 0.856 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 gnomAD rs1818962875 19p13.12 19 14074719 G null P R 361 361 missense 0.908 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1295638556 19p13.12 19 14074721 G null * G 362 362 stop lost 0 A0A044PY82 MISP3 MISP family member 3 TOPMed,gnomAD rs1976662443 19p13.12 19 14074722 T null * L 362 362 stop lost 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl,dbSNP,dbSNP rs868182848 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139932035 T null R H 3 3 missense 0.003 benign 0.0 deleterious - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1181748022 Xq27.1 X 139932033 A null R W 4 4 missense 0.466 possibly damaging 0.04 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs778961255 Xq27.1 X 139932030 C null S G 5 5 missense 0.0 benign 0.43 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs756102804 Xq27.1 X 139932029 G null S T 5 5 missense 0.0 benign 0.62 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs985796448 Xq27.1 X 139932021 C null R G 8 8 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1201369752 Xq27.1 X 139932020 T null R H 8 8 missense 0.295 benign 0.01 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs985796448 Xq27.1 X 139932021 T null R S 8 8 missense 0.003 benign 0.03 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs2083541568 Xq27.1 X 139826823 G null C R 10 10 missense 0.023 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1232126837 Xq27.1 X 139826817 T null G R 12 12 missense 0.042 benign 0.06 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1725471521 Xq27.1 X 139826805 A null R * 16 16 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs747995530 Xq27.1 X 139826804 T null R Q 16 16 missense 0.04 benign 0.03 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1443011660 Xq27.1 X 139826802 A null V F 17 17 missense 0.024 benign 0.02 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1443011660 Xq27.1 X 139826802 T null V I 17 17 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs754737319 Xq27.1 X 139826798 T null G D 18 18 missense 0.005 benign 1.0 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs778844383 Xq27.1 X 139826799 T null G S 18 18 missense 0.009 benign 0.06 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1350894484 Xq27.1 X 139826795 C null T R 19 19 missense 0.027 benign 0.01 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1390887404 Xq27.1 X 139826793 A null R C 20 20 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs2083540494 Xq27.1 X 139826792 T null R H 20 20 missense 0.242 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs988962095 Xq27.1 X 139826790 C null T A 21 21 missense 0.007 benign 0.0 deleterious - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs956360939 Xq27.1 X 139826780 G null V A 24 24 missense 0.12 benign 0.01 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs2083539879 Xq27.1 X 139826781 G null V L 24 24 missense 0.003 benign 0.01 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs577732149 Xq27.1 X 139826774 C null N S 26 26 missense 0.006 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs371311929 Xq27.1 X 139826772 A null H Y 27 27 missense 0.0 benign 0.0 deleterious - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,TOPMed,gnomAD rs768884689 Xq27.1 X 139826766 T null V I 29 29 missense 0.0 benign 0.39 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs768123444 Xq27.1 X 139826762 A null S L 30 30 missense 0.003 benign 0.07 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,gnomAD rs780434359 Xq27.1 X 139826756 A null T I 32 32 missense 0.007 benign 0.06 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1215787567 Xq27.1 X 139826745 C null I V 36 36 missense 0.0 benign 0.3 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs763234673 Xq27.1 X 139826735 A null R I 39 39 missense 0.786 possibly damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs763234673 Xq27.1 X 139826735 T null R K 39 39 missense 0.058 benign 1.0 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1175330508 Xq27.1 X 139826726 C null D G 42 42 missense 0.163 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1271571781 Xq27.1 X 139826717 G null I T 45 45 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1473658479 Xq27.1 X 139826715 T null V I 46 46 missense 0.0 benign 0.06 tolerated - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs749993412 Xq27.1 X 139819423 T null T K 51 51 missense 0.79 possibly damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs2077227347 Xq27.1 X 139819418 G null W R 53 53 missense 0.974 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1211547584 Xq27.1 X 139819415 C null N D 54 54 missense 0.449 possibly damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,gnomAD rs201273611 Xq27.1 X 139819413 T null N K 54 54 missense 0.745 possibly damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs2083354345 Xq27.1 X 139819405 A null P L 57 57 missense 0.934 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs780679084 Xq27.1 X 139819392 T null F L 61 61 missense 0.153 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,dbSNP,dbSNP,gnomAD rs1485593813 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139819391 G null E Q 62 62 missense 0.378 benign 0.0 deleterious - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs2083354043 Xq27.1 X 139819383 C null F L 64 64 missense 0.966 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs757821422 Xq27.1 X 139819369 A null N I 69 69 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs757821422 Xq27.1 X 139819369 C null N S 69 69 missense 0.923 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes rs2147854228 Xq27.1 X 139819363 G null Y S 71 71 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1224475078 Xq27.1 X 139819355 A null I L 74 74 missense 0.007 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl,dbSNP rs1064796558 Xq27.1 X 139819340 A null Q * 79 79 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs2083298232 Xq27.1 X 139816934_139816935insAAAGGCTCTTTTTCATAT A null VD * 82 83 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1220816522 Xq27.1 X 139816933 C null D G 83 83 missense 0.017 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs2083297921 Xq27.1 X 139816928_139816929insAATT A null P * 85 85 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs749160335 Xq27.1 X 139816916 G null V L 89 89 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs779686911 Xq27.1 X 139816913 G null T P 90 90 missense 0.713 possibly damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs374239442 Xq27.1 X 139816904 A null L F 93 93 missense 0.04 benign 0.01 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs780753046 Xq27.1 X 139816886 C null I V 99 99 missense 0.045 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1345526332 Xq27.1 X 139816882 T null T N 100 100 missense 0.953 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1302490912 Xq27.1 X 139816880 T null V I 101 101 missense 0.014 benign 0.03 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs2083296983 Xq27.1 X 139816871 A null I F 104 104 missense 0.046 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2491014 Xq27.1 X 139814971 C null C W 111 111 missense 0.0 benign 1.0 tolerated - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs2083255497 Xq27.1 X 139814967 C null R G 113 113 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs79770109 Xq27.1 X 139814966 A null R I 113 113 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2491014 pubmed:15533723 Xq27.1 X 139814971 T null C W 114 114 missense 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs2083255311 Xq27.1 X 139814958 G null A P 116 116 missense 0.162 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs775416752 Xq27.1 X 139814950 C null N K 118 118 missense 0.0 benign 0.28 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs762800219 Xq27.1 X 139814951 C null N S 118 118 missense 0.007 benign 0.04 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1337436321 Xq27.1 X 139814947 A null E D 119 119 missense 0.031 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs2083254773 Xq27.1 X 139814939 C null K R 122 122 missense 0.001 benign 0.04 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1201681938 Xq27.1 X 139814937 C null S G 123 123 missense 0.011 benign 0.6 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs141053445 Xq27.1 X 139814934 C null T A 124 124 missense 0.0 benign 0.18 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs918691679 Xq27.1 X 139814925 C null I V 127 127 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1481034691 Xq27.1 X 139814917 G null E D 129 129 missense 0.029 benign 0.02 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1393975712 Xq27.1 X 139814915 C null N S 130 130 missense 0.037 benign 0.03 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs2083254231 Xq27.1 X 139814913 T null A T 131 131 missense 0.021 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs868329011 Xq27.1 X 139814910 C null K E 132 132 missense 0.017 benign 0.05 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs965839431 Xq27.1 X 139814907 A null R * 133 133 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs2083253812 Xq27.1 X 139814906 G null R P 133 133 missense 0.009 benign 0.12 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs2083253812 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139814906 T null R Q 133 133 missense 0.0 benign 0.59 tolerated - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs2083253621 Xq27.1 X 139814895 G null E Q 137 137 missense 0.0 benign 0.28 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs770545434 Xq27.1 X 139814890 C null S R 138 138 missense 0.186 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs2083253278 Xq27.1 X 139814879 C null K R 142 142 missense 0.0 benign 0.2 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs2083001936 Xq27.1 X 139804598 G null V A 143 143 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs761897152 Xq27.1 X 139804599 T null V I 143 143 missense 0.78 possibly damaging 0.0 deleterious - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1603377655 Xq27.1 X 139804596 A null G C 144 144 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC rs12835062 Xq27.1 X 139804584 A null E * 148 148 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC rs12835062 Xq27.1 X 139804584 G null E Q 148 148 missense 0.0 benign 0.04 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1385689560 Xq27.1 X 139804581 T null V I 149 149 missense 0.007 benign 0.01 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1603377633 Xq27.1 X 139804577 C null Q R 150 150 missense 0.0 benign 0.1 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs2083001242 Xq27.1 X 139804570 C null D E 152 152 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs759371950 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. Xq27.1 X 139804569 A null E * 153 153 stop gained 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs759371950 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139804569 T null E K 153 153 missense 0.163 benign 0.0 deleterious - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs2083001050 Xq27.1 X 139804562 G null F S 155 155 missense 0.967 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1387521664 Xq27.1 X 139804559 C null P R 156 156 missense 0.947 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase dbSNP,dbSNP,gnomAD rs1452216664 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139804560 A null P S 156 156 missense 0.969 probably damaging 0.0 deleterious - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,gnomAD rs770635734 Xq27.1 X 139804538 T null S * 163 163 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1025067463 Xq27.1 X 139804535 C null S C 164 164 missense 0.956 probably damaging 0.0 deleterious - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs780307263 Xq27.1 X 139804523 A null D V 168 168 missense 0.516 possibly damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs2082999944 Xq27.1 X 139804518 A null T S 170 170 missense 0.079 benign 0.03 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1336173919 Xq27.1 X 139804506 C null T A 174 174 missense 0.117 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs747656739 Xq27.1 X 139804505 T null T N 174 174 missense 0.703 possibly damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs2082999513 Xq27.1 X 139804500 T null A T 176 176 missense 0.04 benign 0.0 deleterious - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs2082999424 Xq27.1 X 139804499 A null A V 176 176 missense 0.139 benign 0.01 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs2147797877 Xq27.1 X 139804491 T null D N 179 179 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs779312013 Xq27.1 X 139804483 G null E D 181 181 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs766175328 Xq27.1 X 139802338 A null T I 186 186 missense 0.006 benign 0.01 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs766175328 Xq27.1 X 139802338 C null T R 186 186 missense 0.085 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs199612746 Xq27.1 X 139802336 T null H N 187 187 missense 0.281 benign 0.0 deleterious - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs771707520 Xq27.1 X 139802331 T null Y * 188 188 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs140504622 Xq27.1 X 139802324 A null R C 191 191 missense 0.03 benign 0.01 deleterious - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs897543909 Xq27.1 X 139802323 T null R H 191 191 missense 0.0 benign 0.09 tolerated - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs897543909 Xq27.1 X 139802323 A null R L 191 191 missense 0.001 benign 0.07 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs897543909 Xq27.1 X 139802323 G null R P 191 191 missense 0.0 benign 0.77 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs773881674 Xq27.1 X 139802315 C null I V 194 194 missense 0.0 benign 0.2 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs944397473 Xq27.1 X 139802312 G null A P 195 195 missense 0.0 benign 0.27 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl,dbSNP,dbSNP rs1569462672 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139802311 A null A V 195 195 missense 0.0 benign 0.32 tolerated - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs367974943 Xq27.1 X 139802309 T null L M 196 196 missense 0.168 benign 0.1 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1166890827 Xq27.1 X 139802308 G null L P 196 196 missense 0.794 possibly damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs769113317 Xq27.1 X 139802300 T null A T 199 199 missense 0.0 benign 0.04 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,gnomAD rs779359689 Xq27.1 X 139802291 C null I V 202 202 missense 0.0 benign 0.36 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1480053055 Xq27.1 X 139802288 G null D H 203 203 missense 0.055 benign 0.01 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs770291563 Xq27.1 X 139802284 T null T N 204 204 missense 0.011 benign 0.12 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs2082942041 Xq27.1 X 139802282 A null L F 205 205 missense 0.033 benign 0.01 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs746182778 Xq27.1 X 139802279 C null R G 206 206 missense 0.776 possibly damaging 0.28 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,TOPMed,gnomAD rs188113308 Xq27.1 X 139802278 T null R Q 206 206 missense 0.019 benign 0.29 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs757468405 Xq27.1 X 139802270 C null I V 209 209 missense 0.005 benign 0.05 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1484315441 Xq27.1 X 139802265 A null E D 210 210 missense 0.027 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs751654828 Xq27.1 X 139802261 G null E Q 212 212 missense 0.327 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs758111978 Xq27.1 X 139802258 A null Q * 213 213 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs777893450 Xq27.1 X 139802242 C null L R 218 218 missense 0.985 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs753780083 Xq27.1 X 139802237 A null K * 220 220 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs143598992 Xq27.1 X 139800110 A null K N 220 220 missense 0.012 benign 0.02 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs766263480 Xq27.1 X 139802236 C null K R 220 220 missense 0.0 benign 0.05 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1177040233 Xq27.1 X 139800106 A null V F 222 222 missense 0.018 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs2082896181 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. Xq27.1 X 139800100 A null R * 224 224 missense 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1278047178 Xq27.1 X 139800099 T null R Q 224 224 missense 0.122 benign 0.01 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374927991 Xq27.1 X 139800093 C null N S 226 226 missense 0.0 benign 0.1 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs2082895693 Xq27.1 X 139800083 C null S R 229 229 missense 0.007 benign 0.79 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs2082895785 Xq27.1 X 139800084 G null S T 229 229 missense 0.003 benign 0.19 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs2082895585 Xq27.1 X 139800082 G null N H 230 230 missense 0.012 benign 0.03 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs2082895482 Xq27.1 X 139800081 G null N T 230 230 missense 0.005 benign 0.07 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs2082895395 Xq27.1 X 139800077 C null S R 231 231 missense 0.003 benign 0.33 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1263887991 Xq27.1 X 139800073 G null E Q 233 233 missense 0.01 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs899218699 Xq27.1 X 139800067 G null V L 235 235 missense 0.0 benign 0.1 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs2082854768 Xq27.1 X 139798742 C null S A 238 238 missense 0.044 benign 0.07 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs755949628 Xq27.1 X 139798739 C null L V 239 239 missense 0.362 benign 0.01 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1359811246 Xq27.1 X 139798735 T null G E 240 240 missense 0.111 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs758206166 Xq27.1 X 139798736 T null G R 240 240 missense 0.56 possibly damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs2082854252 Xq27.1 X 139798717 C null L R 246 246 missense 0.969 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,dbSNP,dbSNP,gnomAD rs754539347 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139798705 A null T M 250 250 missense 0.05 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1385578853 Xq27.1 X 139798697 C null N D 253 253 missense 0.605 possibly damaging 0.01 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1385578853 Xq27.1 X 139798697 G null N H 253 253 missense 0.856 possibly damaging 0.01 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1183274142 Xq27.1 X 139798696 C null N S 253 253 missense 0.787 possibly damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs753264253 Xq27.1 X 139798693 A null T I 254 254 missense 0.931 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs2082853108 Xq27.1 X 139798690 C null E G 255 255 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1448745003 Xq27.1 X 139798691 T null E K 255 255 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs761082044 Xq27.1 X 139798682 G null Y H 258 258 missense 0.062 benign 0.02 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs772022885 Xq27.1 X 139798346 T null V I 262 262 missense 0.0 benign 0.28 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs772022885 Xq27.1 X 139798346 G null V L 262 262 missense 0.001 benign 0.01 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs2082845330 Xq27.1 X 139798343 G null Y H 263 263 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1603373553 Xq27.1 X 139798330 G null E A 267 267 missense 0.927 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs747901190 Xq27.1 X 139798319 T null A T 271 271 missense 0.121 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1333809835 Xq27.1 X 139798310 T null Y N 274 274 missense 0.344 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs778675982 Xq27.1 X 139798306 C null Q R 275 275 missense 0.014 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs754984413 Xq27.1 X 139798299 A null K N 277 277 missense 0.146 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1197757592 Xq27.1 X 139798289 A null R C 281 281 missense 0.085 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs2082844385 Xq27.1 X 139798288 G null R P 281 281 missense 0.954 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs2082844231 Xq27.1 X 139798283 A null A S 283 283 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs2082844010 Xq27.1 X 139798279 G null V A 284 284 missense 0.918 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs753454802 Xq27.1 X 139798280 T null V I 284 284 missense 0.015 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs958565980 Xq27.1 X 139797322 C null I V 288 288 missense 0.007 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs2082822759 Xq27.1 X 139797310 T null L M 292 292 missense 0.801 possibly damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs2082822672 Xq27.1 X 139797307 C null I V 293 293 missense 0.005 benign 0.24 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs763069170 Xq27.1 X 139797290 C null I M 298 298 missense 0.199 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs2082822168 Xq27.1 X 139797282 A null T I 301 301 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs759646673 Xq27.1 X 139797273 A null A V 304 304 missense 0.0 benign 0.39 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1178653328 Xq27.1 X 139797267 A null C F 306 306 missense 0.024 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs772112736 Xq27.1 X 139797262 C null T A 308 308 missense 0.0 benign 0.05 tolerated - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs2148754691 Xq27.1 X 139797252 C null Y C 311 311 missense 0.081 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1353707269 Xq27.1 X 139797250 T null V I 312 312 missense 0.0 benign 0.19 tolerated - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1227337388 Xq27.1 X 139797243 A null Q L 314 314 missense 0.012 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1227337388 Xq27.1 X 139797243 C null Q R 314 314 missense 0.018 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs2082821240 Xq27.1 X 139797241 C null S G 315 315 missense 0.003 benign 0.03 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs774013567 Xq27.1 X 139797240 T null S N 315 315 missense 0.0 benign 0.1 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs768413801 Xq27.1 X 139797238 C null T A 316 316 missense 0.0 benign 0.21 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1569459943 Xq27.1 X 139797237 T null T N 316 316 missense 0.003 benign 0.8 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs368191959 Xq27.1 X 139797231 C null Y C 318 318 missense 0.141 benign 0.17 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs2082820638 Xq27.1 X 139797228 C null N S 319 319 missense 0.007 benign 0.02 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs779692550 Xq27.1 X 139797226 A null D Y 320 320 missense 0.048 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1323535656 Xq27.1 X 139797215 G null W C 323 323 missense 0.731 possibly damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1190038325 Xq27.1 X 139797207 C null Q R 326 326 missense 0.0 benign 0.08 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1239229087 Xq27.1 X 139797201 A null T I 328 328 missense 0.009 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1255350200 Xq27.1 X 139797194 G null K N 330 330 missense 0.005 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1471866887 Xq27.1 X 139797191 G null E D 331 331 missense 0.0 benign 0.07 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs957402892 Xq27.1 X 139797190 A null R * 332 332 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,TOPMed,dbSNP,dbSNP,gnomAD rs139162586 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139797189 T null R Q 332 332 missense 0.023 benign 0.0 deleterious - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs2082819667 Xq27.1 X 139797187 T null E K 333 333 missense 0.0 benign 0.06 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1318540161 Xq27.1 X 139797183 T null T N 334 334 missense 0.175 benign 0.01 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,TOPMed,gnomAD rs765266896 Xq27.1 X 139797180 C null L W 335 335 missense 0.0 benign 0.19 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs2082798132 Xq27.1 X 139796466 G null L S 338 338 missense 0.828 possibly damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1486796737 Xq27.1 X 139796467 C null L V 338 338 missense 0.015 benign 0.01 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs2082797941 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139796462 G null K N 339 339 missense 0.0 benign 0.1 tolerated - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs2082797837 Xq27.1 X 139796461 C null M V 340 340 missense 0.0 benign 0.04 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs761828644 Xq27.1 X 139796454 C null T S 342 342 missense 0.018 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,dbSNP,dbSNP,gnomAD rs768342557 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139796452 T null D N 343 343 missense 0.061 benign 0.0 deleterious - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC rs147377814 Xq27.1 X 139796440 G null F L 347 347 missense 0.087 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs775030725 Xq27.1 X 139796426 T null F L 351 351 missense 0.038 benign 0.0 deleterious - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs769417087 Xq27.1 X 139796419 C null I V 354 354 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1236256718 Xq27.1 X 139796412 C null P R 356 356 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1178015701 Xq27.1 X 139796402 A null M I 359 359 missense 0.02 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1339979206 Xq27.1 X 139796404 A null M L 359 359 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1436026009 Xq27.1 X 139796395 A null T S 362 362 missense 0.331 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,TOPMed,gnomAD rs200542850 Xq27.1 X 139796379 C null K R 367 367 missense 0.162 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,TOPMed,gnomAD rs200542850 Xq27.1 X 139796379 G null K T 367 367 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs747472093 Xq27.1 X 139796363 C null F L 372 372 missense 0.005 benign 0.04 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs778300185 Xq27.1 X 139796359 C null I V 374 374 missense 0.426 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs2082795053 Xq27.1 X 139796353 G null W R 376 376 missense 0.413 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1017900566 Xq27.1 X 139796347 C null K E 378 378 missense 0.003 benign 0.21 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs758709585 Xq27.1 X 139796338 G null Y H 381 381 missense 0.347 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase dbSNP,dbSNP,gnomAD rs1367437587 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139796332 T null E K 383 383 missense 0.003 benign 0.11 tolerated - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs920415310 Xq27.1 X 139796327 G null E D 384 384 missense 0.003 benign 0.04 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1184765821 Xq27.1 X 139796322 C null N S 386 386 missense 0.012 benign 0.08 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs2082794241 Xq27.1 X 139796318 A null E D 387 387 missense 0.47 possibly damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs753082643 Xq27.1 X 139796320 T null E K 387 387 missense 0.493 possibly damaging 0.02 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1464978015 Xq27.1 X 139796314 A null A S 389 389 missense 0.161 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1464978015 Xq27.1 X 139796314 T null A T 389 389 missense 0.196 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs755247114 Xq27.1 X 139796301 A null T I 393 393 missense 0.87 possibly damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs2082793545 Xq27.1 X 139796295 G null D A 395 395 missense 0.054 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs2082793348 Xq27.1 X 139796290 C null N D 397 397 missense 0.987 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs2082793070 Xq27.1 X 139796282 A null E D 399 399 missense 0.318 benign 0.01 deleterious - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs2082793163 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139796284 T null E K 399 399 missense 0.973 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1270852495 Xq27.1 X 139789485 A null D Y 404 404 missense 0.029 benign 0.0 deleterious - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1603367917 Xq27.1 X 139789463 C null T S 411 411 missense 0.988 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl,dbSNP rs1556323334 [ClinVar]: X-linked congenital hemolytic anemia, [UniProt]: HACXL; decreased phosphatidylserine translocation from the outer to the inner leaflet of erythrocytes cell membrane, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:26944472 pubmed:26944472 Xq27.1 X 139789451 T null T N 415 415 missense 0.998 probably damaging 0.0 deleterious - low confidence 1 Hemolytic anemia, congenital, X-linked (HACXL) An X-linked hematologic disease characterized by shortened survival of erythrocytes due to congenital hemolysis that cannot be compensated by bone marrow activity. Clinical features are mild jaundice and anemia. Red cells morphology is normal. MIM:301015 pubmed:26944472 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl,dbSNP rs1556323334 [ClinVar]: X-linked congenital hemolytic anemia, [UniProt]: HACXL; decreased phosphatidylserine translocation from the outer to the inner leaflet of erythrocytes cell membrane, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:26944472 pubmed:26944472 Xq27.1 X 139789451 T null T N 415 415 missense 0.998 probably damaging 0.0 deleterious - low confidence 1 X-linked congenital hemolytic anemia (HACXL) MIM:301015 ClinVar:RCV000678207 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1199299060 Xq27.1 X 139789445 C null N S 417 417 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1370378925 Xq27.1 X 139789432 T null F L 421 421 missense 0.334 benign 0.01 deleterious - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs2082643424 Xq27.1 X 139789419 C null I V 426 426 missense 0.043 benign 0.07 tolerated - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs144350443 Xq27.1 X 139789410 C null H D 429 429 missense 0.062 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs754118102 Xq27.1 X 139789409 C null H R 429 429 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs2148732974 Xq27.1 X 139789404 G null Y H 431 431 missense 0.976 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs750497013 Xq27.1 X 139789370 C null S C 442 442 missense 0.01 benign 0.54 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs750497013 Xq27.1 X 139789370 A null S F 442 442 missense 0.031 benign 0.01 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs201410017 Xq27.1 X 139789350 C null T A 449 449 missense 0.0 benign 0.21 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1321203663 Xq27.1 X 139789341 G null D H 452 452 missense 0.022 benign 0.02 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1392732207 Xq27.1 X 139789338 G null K Q 453 453 missense 0.47 possibly damaging 0.09 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs762947590 Xq27.1 X 139789337 C null K R 453 453 missense 0.007 benign 0.11 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs2082619773 Xq27.1 X 139788328 G null F L 462 462 missense 0.692 possibly damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs757213577 Xq27.1 X 139788324 G null L P 463 463 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs752658279 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139788322 A null R C 464 464 missense 0.798 possibly damaging 0.0 deleterious - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs765107168 Xq27.1 X 139788321 T null R H 464 464 missense 0.873 possibly damaging 0.02 deleterious - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs765107168 Xq27.1 X 139788321 A null R L 464 464 missense 0.063 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs754814053 Xq27.1 X 139788318 A null A V 465 465 missense 0.015 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1259162771 Xq27.1 X 139788315 T null L * 466 466 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs753597334 Xq27.1 X 139788297 T null V E 472 472 missense 0.965 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs766006082 Xq27.1 X 139788286 C null T A 476 476 missense 0.006 benign 0.04 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC rs765633736 Xq27.1 X 139788282 C null N S 477 477 missense 0.011 benign 0.75 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1186907990 Xq27.1 X 139788279 C null D G 478 478 missense 0.05 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl,dbSNP,dbSNP rs1045378104 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139788280 T null D N 478 478 missense 0.024 benign 0.01 deleterious - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1569455798 Xq27.1 X 139788262 C null T A 484 484 missense 0.003 benign 0.79 tolerated - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs775027303 Xq27.1 X 139788261 A null T I 484 484 missense 0.0 benign 0.31 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs769252832 Xq27.1 X 139788253 T null A T 487 487 missense 0.003 benign 0.32 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs949658326 Xq27.1 X 139788252 A null A V 487 487 missense 0.035 benign 0.12 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1168194508 Xq27.1 X 139788248 A null E D 488 488 missense 0.015 benign 0.2 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1353366586 Xq27.1 X 139788244 C null T A 490 490 missense 0.0 benign 0.49 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs2082617308 Xq27.1 X 139788243 A null T I 490 490 missense 0.0 benign 0.19 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs2082617237 Xq27.1 X 139788240 C null Y C 491 491 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC rs749716771 Xq27.1 X 139788238 C null I V 492 492 missense 0.0 benign 0.13 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1353928921 Xq27.1 X 139788234 A null S F 493 493 missense 0.291 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs773311103 Xq27.1 X 139788214 G null A P 500 500 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs773311103 Xq27.1 X 139788214 T null A T 500 500 missense 0.929 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs2082616789 Xq27.1 X 139788213 A null A V 500 500 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,gnomAD rs754325052 Xq27.1 X 139788196 C null K E 506 506 missense 0.01 benign 0.41 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs910569070 Xq27.1 X 139787242 C null Y C 508 508 missense 0.001 benign 0.01 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,gnomAD rs779081002 Xq27.1 X 139787243 G null Y H 508 508 missense 0.026 benign 0.06 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs773974402 Xq27.1 X 139787240 T null G R 509 509 missense 0.923 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs764752939 Xq27.1 X 139787234 C null T A 511 511 missense 0.007 benign 0.01 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1477604934 Xq27.1 X 139787233 A null T I 511 511 missense 0.014 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1160031262 Xq27.1 X 139787231 C null F V 512 512 missense 0.638 possibly damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl,dbSNP,dbSNP rs867529692 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. Xq27.1 X 139787219 A null R * 516 516 missense 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367833293 Xq27.1 X 139787218 T null R Q 516 516 missense 0.0 benign 0.06 tolerated - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1459694543 Xq27.1 X 139787213 G null G R 518 518 missense 0.0 benign 0.09 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs776955107 Xq27.1 X 139787210 C null Y D 519 519 missense 0.003 benign 0.13 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs776955107 Xq27.1 X 139787210 T null Y N 519 519 missense 0.001 benign 0.34 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs747151951 Xq27.1 X 139787203 T null R K 521 521 missense 0.003 benign 1.0 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs17281983 Xq27.1 X 139787209 C null Y C 522 522 missense 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP rs376608133 Xq27.1 X 139787201 T null V I 522 522 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146526072 Xq27.1 X 139787191 C null Q R 525 525 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs147128476 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139787188 A null R I 526 526 missense 0.019 benign 0.05 tolerated - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs147128476 Xq27.1 X 139787188 T null R K 526 526 missense 0.005 benign 0.98 tolerated - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs2082590966 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. Xq27.1 X 139787183 A null E * 528 528 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1348946284 Xq27.1 X 139787179 G null I T 529 529 missense 0.003 benign 0.22 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1262768901 Xq27.1 X 139787180 C null I V 529 529 missense 0.0 benign 0.55 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC rs759997844 Xq27.1 X 139785295 T null E K 533 533 missense 0.003 benign 0.17 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,gnomAD rs778570495 Xq27.1 X 139785286 A null H Y 536 536 missense 0.03 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs760892745 Xq27.1 X 139785268 T null A T 542 542 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs2082549080 Xq27.1 X 139785265 T null V I 543 543 missense 0.003 benign 0.01 deleterious - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs866784413 Xq27.1 X 139785261 T null R Q 544 544 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase dbSNP,dbSNP,gnomAD rs758140991 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139785262 A null R W 544 544 missense 0.999 probably damaging 0.0 deleterious - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1267066549 Xq27.1 X 139785258 T null R Q 545 545 missense 0.387 benign 0.01 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,dbSNP,dbSNP rs1033024084 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139785256 A null R C 546 546 missense 0.996 probably damaging 0.01 deleterious - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs2082548630 Xq27.1 X 139785255 T null R H 546 546 missense 0.994 probably damaging 0.0 deleterious - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs2082548221 Xq27.1 X 139785243 G null I T 550 550 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1239527186 Xq27.1 X 139785244 C null I V 550 550 missense 0.063 benign 0.02 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs748136174 Xq27.1 X 139785241 G null V L 551 551 missense 0.003 benign 0.01 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs999502806 Xq27.1 X 139785228 C null E G 555 555 missense 0.0 benign 0.08 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC rs752129647 Xq27.1 X 139783263 T null D E 557 557 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1446151211 Xq27.1 X 139783265 T null D N 557 557 missense 0.0 benign 0.06 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1004687043 Xq27.1 X 139783264 A null D V 557 557 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs898617886 Xq27.1 X 139783260 C null I M 558 558 missense 0.884 possibly damaging 0.05 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1398144422 Xq27.1 X 139783262 C null I V 558 558 missense 0.003 benign 0.08 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1466981278 Xq27.1 X 139783258 T null L H 559 559 missense 0.302 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,TOPMed,gnomAD rs148368628 Xq27.1 X 139783259 C null L V 559 559 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs759958294 Xq27.1 X 139783234 A null S L 567 567 missense 0.048 benign 0.01 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,dbSNP,dbSNP,gnomAD rs759958294 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139783234 C null S W 567 567 missense 0.881 possibly damaging 0.0 deleterious - low confidence 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1030233190 Xq27.1 X 139783199 T null E K 579 579 missense 0.005 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1030233190 Xq27.1 X 139783199 G null E Q 579 579 missense 0.001 benign 0.53 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs144410603 Xq27.1 X 139783193 C null T A 581 581 missense 0.145 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs2082500405 Xq27.1 X 139783190 C null K E 582 582 missense 0.005 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs762001124 Xq27.1 X 139783178 T null E K 586 586 missense 0.005 benign 0.0 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1255257978 Xq27.1 X 139783175 A null R C 587 587 missense 0.228 benign 0.02 deleterious - low confidence 0