Gene name Accession Number Gene CDS length HGNC ID Sample name ID_sample ID_tumour Primary site Site subtype 1 Site subtype 2 Site subtype 3 Primary histology Histology subtype 1 Histology subtype 2 Histology subtype 3 Genome-wide screen GENOMIC_MUTATION_ID LEGACY_MUTATION_ID MUTATION_ID Mutation CDS Mutation AA Mutation Description Mutation zygosity LOH GRCh Mutation genome position Mutation strand Resistance Mutation FATHMM prediction FATHMM score Mutation somatic status Pubmed_PMID ID_STUDY Sample Type Tumour origin Age HGVSP HGVSC HGVSG NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 H_LV-3334-1316090 2768135 2626354 breast NS NS NS carcinoma ER-positive_carcinoma NS NS n COSV100657392 COSM7344803 119156537 c.644C>G p.S215* Substitution - Nonsense 38 12:124466234-124466234 - - PATHOGENIC .9294 Variant of unknown origin 30181556 surgery-fixed NS ENSP00000384202.1:p.Ser215Ter ENST00000404621.5:c.644C>G 12:g.124466234G>C SELP_ENST00000458599 ENST00000458599.6 1941 10721 PD42111a 2894820 2749308 skin trunk NS NS malignant_melanoma superficial_spreading NS NS y COSV105049676 COSM9907726 133379081 c.1225C>T p.Q409* Substitution - Nonsense 38 1:169607057-169607057 - - NEUTRAL .27312 Variant of unknown origin 33024263 surgery-fixed metastasis 49 ENSP00000399368.2:p.Gln409Ter ENST00000458599.6:c.1225C>T 1:g.169607057G>A SELP_ENST00000458599 ENST00000458599.6 1941 10721 H727 2776331 2634467 lung NS NS NS carcinoid-endocrine_tumour NS NS NS y COSV55249264 COSM2073714 133374571 c.393C>A p.C131* Substitution - Nonsense 38 1:169617116-169617116 - - NEUTRAL .43853 Variant of unknown origin 29681454 NS NS 65 ENSP00000399368.2:p.Cys131Ter ENST00000458599.6:c.393C>A 1:g.169617116G>T SELP_ENST00000458599 ENST00000458599.6 1941 10721 587376 1766805 1671125 large_intestine colon NS NS carcinoma adenocarcinoma NS NS y COSV55255166 COSM1225125 133379195 c.1158C>A p.C386* Substitution - Nonsense 38 1:169607124-169607124 - - PATHOGENIC .80149 Variant of unknown origin 22895193 surgery fresh/frozen primary ENSP00000399368.2:p.Cys386Ter ENST00000458599.6:c.1158C>A 1:g.169607124G>T MFN2_ENST00000444836 ENST00000444836.5 2274 16877 TCGA-AP-A0LM-01 1783352 1687351 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV52422272 COSM894767 129935729 c.1252C>T p.R418* Substitution - Nonsense het 38 1:12004083-12004083 + - PATHOGENIC .85317 Variant of unknown origin 419 fresh/frozen - NOS primary 33 ENSP00000416338.1:p.Arg418Ter ENST00000444836.5:c.1252C>T 1:g.12004083C>T MFN2_ENST00000444836 ENST00000444836.5 2274 16877 RKO 2302003 2167286 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV52420774 COSM2180179 129932349 c.880C>T p.R294* Substitution - Nonsense het 38 1:12001464-12001464 + - PATHOGENIC .84293 Variant of unknown origin 24755471 cell-line NS ENSP00000416338.1:p.Arg294Ter ENST00000444836.5:c.880C>T 1:g.12001464C>T SELP_ENST00000458599 ENST00000458599.6 1941 10721 PD31211c 2894855 2749343 skin head_neck NS NS malignant_melanoma in_situ_melanotic_neoplasm NS NS y COSV105049779 COSM9926774 133385081 c.302G>A p.W101* Substitution - Nonsense 38 1:169617207-169617207 - - PATHOGENIC .98165 Variant of unknown origin 33024263 surgery-fixed metastasis ENSP00000399368.2:p.Trp101Ter ENST00000458599.6:c.302G>A 1:g.169617207C>T SELP_ENST00000458599 ENST00000458599.6 1941 10721 TCGA-78-7539-01 1914074 1802356 lung right_upper_lobe NS NS carcinoma adenocarcinoma NS NS y COSV55250656 COSM6122285 133375134 c.936G>A p.W312* Substitution - Nonsense 38 1:169612242-169612242 - - PATHOGENIC .95748 Variant of unknown origin 417 fresh/frozen - NOS primary 75 ENSP00000399368.2:p.Trp312Ter ENST00000458599.6:c.936G>A 1:g.169612242C>T SELP_ENST00000458599 ENST00000458599.6 1941 10721 TCGA-AP-A059-01 1783335 1687334 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV55257716 COSM899311 133375310 c.1599C>A p.C533* Substitution - Nonsense het 38 1:169594828-169594828 - - PATHOGENIC .79962 Variant of unknown origin 419 fresh/frozen - NOS primary 69 ENSP00000399368.2:p.Cys533Ter ENST00000458599.6:c.1599C>A 1:g.169594828G>T MCF2L_ENST00000375604 ENST00000375604.6 3372 14576 2834130 2834130 2689914 skin mucosal anorectal NS malignant_melanoma NS NS NS y COSV104563801 COSM9322018 113443724 c.3263C>A p.S1088* Substitution - Nonsense 38 13:113096630-113096630 + - PATHOGENIC .93713 Variant of unknown origin 28296713 surgery - NOS primary 59 ENSP00000364754.3:p.Ser1088Ter ENST00000375604.6:c.3263C>A 13:g.113096630C>A CDH6 ENST00000265071.2 2373 1765 TCGA-55-6985-01 1914012 1802294 lung right_upper_lobe NS NS carcinoma adenocarcinoma NS NS y COSV54073077 COSM6170698 101107008 c.976G>T p.E326* Substitution - Nonsense 38 5:31302275-31302275 + - PATHOGENIC .9932 Variant of unknown origin 417 fresh/frozen - NOS primary 58 ENSP00000265071.2:p.Glu326Ter ENST00000265071.2:c.976G>T 5:g.31302275G>T CDH6 ENST00000265071.2 2373 1765 HDC82 2301983 2167266 large_intestine colon left NS carcinoma adenocarcinoma NS NS y COSV54076372 COSM4636752 101095268 c.904G>T p.E302* Substitution - Nonsense het 38 5:31302203-31302203 + - PATHOGENIC .98305 Variant of unknown origin 24755471 cell-line NS ENSP00000265071.2:p.Glu302Ter ENST00000265071.2:c.904G>T 5:g.31302203G>T NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 2760224 2760224 2618757 haematopoietic_and_lymphoid_tissue skin NS NS lymphoid_neoplasm marginal_zone_lymphoma NS NS n COSV100657108 COSM7448259 119157243 c.658G>T p.E220* Substitution - Nonsense 38 12:124466220-124466220 - - PATHOGENIC .8979 Variant of unknown origin 29481902 surgery-fixed primary ENSP00000384202.1:p.Glu220Ter ENST00000404621.5:c.658G>T 12:g.124466220C>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 H_KU-3995-1316202 2768055 2626274 breast NS NS NS carcinoma ER-positive_carcinoma NS NS n COSV100657736 COSM7344799 119168328 c.2968G>T p.E990* Substitution - Nonsense 38 12:124362204-124362204 - - PATHOGENIC .86008 Variant of unknown origin 30181556 surgery-fixed NS ENSP00000384202.1:p.Glu990Ter ENST00000404621.5:c.2968G>T 12:g.124362204C>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 H_LV-1150-1226830 2767880 2626099 breast NS NS NS carcinoma ER-positive_carcinoma NS NS n COSV100657640 COSM7344797 119166253 c.3575C>G p.S1192* Substitution - Nonsense 38 12:124354181-124354181 - - PATHOGENIC .81995 Variant of unknown origin 30181556 surgery-fixed NS ENSP00000384202.1:p.Ser1192Ter ENST00000404621.5:c.3575C>G 12:g.124354181G>C NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 H_KU-758-758_a_core 2768475 2626694 breast NS NS NS carcinoma hormone_receptor-positive_carcinoma NS NS n COSV100657043 COSM7344838 119158427 c.589C>T p.Q197* Substitution - Nonsense 38 12:124472954-124472954 - - PATHOGENIC .99498 Variant of unknown origin 30181556 surgery-fixed NS ENSP00000384202.1:p.Gln197Ter ENST00000404621.5:c.589C>T 12:g.124472954G>A MFN2_ENST00000444836 ENST00000444836.5 2274 16877 TCGA-05-4398-01 1780060 1684059 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV52424046 COSM6057771 129935674 c.886C>T p.Q296* Substitution - Nonsense 38 1:12001470-12001470 + - PATHOGENIC .90905 Variant of unknown origin 417 fresh/frozen - NOS primary 47 ENSP00000416338.1:p.Gln296Ter ENST00000444836.5:c.886C>T 1:g.12001470C>T MFN2_ENST00000444836 ENST00000444836.5 2274 16877 EXTERN_MELA_20140526_101 2839338 2695104 skin scalp NS NS malignant_melanoma NS NS NS y COSV104580888 COSM9296398 129935629 c.2219G>A p.W740* Substitution - Nonsense 38 1:12011510-12011510 + - PATHOGENIC .9818 Confirmed somatic variant 28467829 surgery fresh/frozen metastasis ENSP00000416338.1:p.Trp740Ter ENST00000444836.5:c.2219G>A 1:g.12011510G>A SELP_ENST00000458599 ENST00000458599.6 1941 10721 PD42129a 2894844 2749332 skin head_neck NS NS malignant_melanoma superficial_spreading NS NS y COSV105822254 COSM9933383 133387021 c.40C>T p.Q14* Substitution - Nonsense 38 1:169619183-169619183 - - Variant of unknown origin 33024263 surgery-fixed metastasis ENSP00000399368.2:p.Gln14Ter ENST00000458599.6:c.40C>T 1:g.169619183G>A SELP_ENST00000458599 ENST00000458599.6 1941 10721 HCC12T 1566731 1488538 liver NS NS NS carcinoma hepatocellular_carcinoma NS NS y COSV55255694 COSM1601214 133375730 c.217A>T p.K73* Substitution - Nonsense het 38 1:169617292-169617292 - - PATHOGENIC .84334 Reported in another cancer sample as somatic 323 surgery fresh/frozen primary 61 ENSP00000399368.2:p.Lys73Ter ENST00000458599.6:c.217A>T 1:g.169617292T>A SELP_ENST00000458599 ENST00000458599.6 1941 10721 NCI-H727 2433547 2296428 lung NS NS NS carcinoid-endocrine_tumour NS NS NS y COSV55249264 COSM2073714 133374571 c.393C>A p.C131* Substitution - Nonsense 38 1:169617116-169617116 - - NEUTRAL .43853 Variant of unknown origin 26087898 cell-line NS ENSP00000399368.2:p.Cys131Ter ENST00000458599.6:c.393C>A 1:g.169617116G>T SELP_ENST00000458599 ENST00000458599.6 1941 10721 PD42092a 2894833 2749321 skin head_neck NS NS malignant_melanoma superficial_spreading NS NS y COSV55258636 COSM5968967 133374452 c.158G>A p.W53* Substitution - Nonsense 38 1:169617351-169617351 - - PATHOGENIC .98724 Reported in another cancer sample as somatic 33024263 surgery-fixed metastasis 75 ENSP00000399368.2:p.Trp53Ter ENST00000458599.6:c.158G>A 1:g.169617351C>T SELP_ENST00000458599 ENST00000458599.6 1941 10721 7 2557189 2418614 upper_aerodigestive_tract mouth NS NS carcinoma squamous_cell_carcinoma NS NS y COSV55258636 COSM5968967 133374452 c.158G>A p.W53* Substitution - Nonsense 38 1:169617351-169617351 - - PATHOGENIC .98724 Reported in another cancer sample as somatic 26934577 surgery fresh/frozen NS ENSP00000399368.2:p.Trp53Ter ENST00000458599.6:c.158G>A 1:g.169617351C>T FKBP11_ENST00000444214 ENST00000444214.6 300 18624 PT40 2521297 2383640 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV56739632 COSM2006367 128728065 c.127C>T p.R43* Substitution - Nonsense 38 12:48922157-48922157 - - PATHOGENIC .94612 Confirmed somatic variant 25759019 surgery fresh/frozen NS ENSP00000412403.2:p.Arg43Ter ENST00000444214.6:c.127C>T 12:g.48922157G>A CDH6 ENST00000265071.2 2373 1765 TCGA-05-4427-01 1780073 1684072 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV54072404 COSM6103440 101100951 c.1957A>T p.R653* Substitution - Nonsense 38 5:31322892-31322892 + - PATHOGENIC .76373 Variant of unknown origin 417 fresh/frozen - NOS primary 65 ENSP00000265071.2:p.Arg653Ter ENST00000265071.2:c.1957A>T 5:g.31322892A>T CDH6 ENST00000265071.2 2373 1765 TCGA-05-4427-01 1780073 1684072 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV54072391 COSM6103453 101100944 c.313G>T p.E105* Substitution - Nonsense 38 5:31294046-31294046 + - PATHOGENIC .99359 Variant of unknown origin 417 fresh/frozen - NOS primary 65 ENSP00000265071.2:p.Glu105Ter ENST00000265071.2:c.313G>T 5:g.31294046G>T CDH6 ENST00000265071.2 2373 1765 H1793 2776325 2634461 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV54081550 COSM3014278 101099058 c.213T>A p.Y71* Substitution - Nonsense 38 5:31267686-31267686 + - PATHOGENIC .82622 Variant of unknown origin 29681454 NS NS 52 ENSP00000265071.2:p.Tyr71Ter ENST00000265071.2:c.213T>A 5:g.31267686T>A CDH6 ENST00000265071.2 2373 1765 LUAD-E00934 1765102 1669422 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV54066691 COSM393715 101106767 c.260C>A p.S87* Substitution - Nonsense 38 5:31293993-31293993 + - PATHOGENIC .88499 Variant of unknown origin 22980975 surgery - NOS primary 58 ENSP00000265071.2:p.Ser87Ter ENST00000265071.2:c.260C>A 5:g.31293993C>A CDH6 ENST00000265071.2 2373 1765 H1793 2776325 2634461 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV54081561 COSM3014354 101099066 c.2260G>T p.E754* Substitution - Nonsense 38 5:31323195-31323195 + - PATHOGENIC .98251 Variant of unknown origin 29681454 NS NS 52 ENSP00000265071.2:p.Glu754Ter ENST00000265071.2:c.2260G>T 5:g.31323195G>T MFN2_ENST00000444836 ENST00000444836.5 2274 16877 TCGA-77-7141-01 2195124 2063402 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99336912 COSM8737378 129933444 c.409G>T p.E137* Substitution - Nonsense 38 1:11996253-11996253 + - PATHOGENIC .97535 Confirmed somatic variant 418 NS NS 64 ENSP00000416338.1:p.Glu137Ter ENST00000444836.5:c.409G>T 1:g.11996253G>T BAG6_ENST00000375976 ENST00000375976.8 3381 13919 HCC78 2776312 2634448 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV52995666 COSM3253627 114560983 c.3265C>T p.Q1089* Substitution - Nonsense 38 6:31639520-31639520 - - PATHOGENIC .94848 Variant of unknown origin 29681454 NS NS 55 ENSP00000365143.4:p.Gln1089Ter ENST00000375976.8:c.3265C>T 6:g.31639520G>A SELP_ENST00000458599 ENST00000458599.6 1941 10721 TCGA-50-5930-01 1913992 1802274 lung right_lower_lobe NS NS carcinoma adenocarcinoma NS NS y COSV55250055 COSM1499324 133378850 c.847C>T p.Q283* Substitution - Nonsense 38 1:169612331-169612331 - - NEUTRAL .07717 Reported in another cancer sample as somatic 417 fresh/frozen - NOS primary 47 ENSP00000399368.2:p.Gln283Ter ENST00000458599.6:c.847C>T 1:g.169612331G>A SELP_ENST00000458599 ENST00000458599.6 1941 10721 WGC003632 2785109 2645225 biliary_tract bile_duct NS NS carcinoma adenocarcinoma NS NS y COSV99740493 COSM7421746 133380733 c.1259T>A p.L420* Substitution - Nonsense 38 1:169607023-169607023 - - NEUTRAL .02672 Confirmed somatic variant 25526346 surgery fresh/frozen primary 65 ENSP00000399368.2:p.Leu420Ter ENST00000458599.6:c.1259T>A 1:g.169607023A>T MCF2L_ENST00000375604 ENST00000375604.6 3372 14576 H157 2776238 2634374 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99029568 COSM7376610 113446093 c.3013G>T p.E1005* Substitution - Nonsense 38 13:113094579-113094579 + - PATHOGENIC .95002 Variant of unknown origin 29681454 NS NS 59 ENSP00000364754.3:p.Glu1005Ter ENST00000375604.6:c.3013G>T 13:g.113094579G>T FKBP11_ENST00000444214 ENST00000444214.6 300 18624 1 2584584 2445748 skin leg NS NS carcinoma Merkel_cell_carcinoma NS NS y COSV56739632 COSM2006367 128728065 c.127C>T p.R43* Substitution - Nonsense 38 12:48922157-48922157 - - PATHOGENIC .94612 Confirmed somatic variant 27592799 fresh/frozen - NOS primary 83 ENSP00000412403.2:p.Arg43Ter ENST00000444214.6:c.127C>T 12:g.48922157G>A FKBP11_ENST00000444214 ENST00000444214.6 300 18624 TCGA-BP-5198-01 1779962 1683961 kidney NS NS NS carcinoma clear_cell_renal_cell_carcinoma NS NS y COSV56739220 COSM468428 128728600 c.229A>T p.K77* Substitution - Nonsense 38 12:48922055-48922055 - - PATHOGENIC .97865 Confirmed somatic variant 416 fresh/frozen - NOS primary 72 ENSP00000412403.2:p.Lys77Ter ENST00000444214.6:c.229A>T 12:g.48922055T>A CDH6 ENST00000265071.2 2373 1765 TCGA-05-5425-01 1780080 1684079 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV54069333 COSM6170701 101111292 c.466G>T p.E156* Substitution - Nonsense 38 5:31294199-31294199 + - PATHOGENIC .99178 Variant of unknown origin 417 fresh/frozen - NOS primary 68 ENSP00000265071.2:p.Glu156Ter ENST00000265071.2:c.466G>T 5:g.31294199G>T NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 PR-04-3347 1691517 1599784 prostate NS NS NS carcinoma NS NS NS y COSV62304923 COSM245973 119159571 c.2839C>T p.Q947* Substitution - Nonsense het 38 12:124363714-124363714 - - PATHOGENIC .97674 Variant of unknown origin 22610119 surgery fresh/frozen primary 59 ENSP00000384202.1:p.Gln947Ter ENST00000404621.5:c.2839C>T 12:g.124363714G>A HFE_ENST00000461397 ENST00000461397.5 1005 4886 585267 1759407 1664155 lung NS NS NS carcinoma small_cell_carcinoma NS NS y COSV58512649 COSM320802 131883417 c.880G>T p.G294* Substitution - Nonsense 38 6:26093148-26093148 + - PATHOGENIC .71579 Variant of unknown origin 22941189 fresh/frozen - NOS primary ENSP00000420802.1:p.Gly294Ter ENST00000461397.5:c.880G>T 6:g.26093148G>T HFE_ENST00000461397 ENST00000461397.5 1005 4886 TCGA-D1-A167-01 1783503 1687502 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV58513471 COSM1076694 131882021 c.675G>A p.W225* Substitution - Nonsense het 38 6:26092785-26092785 + - PATHOGENIC .875 Reported in another cancer sample as somatic 419 fresh/frozen - NOS primary 70 ENSP00000420802.1:p.Trp225Ter ENST00000461397.5:c.675G>A 6:g.26092785G>A FKBP11_ENST00000444214 ENST00000444214.6 300 18624 T2448 2658241 2518400 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV56740181 COSM6664221 128728800 c.10G>T p.G4* Substitution - Nonsense 38 12:48924224-48924224 - - PATHOGENIC .9642 Confirmed somatic variant 27149842 NS NS 68.58 ENSP00000412403.2:p.Gly4Ter ENST00000444214.6:c.10G>T 12:g.48924224C>A CARHSP1_ENST00000567554 ENST00000567554.5 444 17150 2834135 2834135 2689919 skin mucosal female_genital_tract_(site_indeterminate) NS malignant_melanoma NS NS NS y COSV100220272 COSM8265437 161864277 c.420G>A p.W140* Substitution - Nonsense 38 16:8855188-8855188 - - PATHOGENIC .98546 Reported in another cancer sample as somatic 28296713 surgery - NOS primary 72 ENSP00000455855.1:p.Trp140Ter ENST00000567554.5:c.420G>A 16:g.8855188C>T CARHSP1_ENST00000567554 ENST00000567554.5 444 17150 TCGA-DU-6407-02 2185941 2054238 central_nervous_system brain NS NS glioma NS NS NS y COSV100220272 COSM8265437 161864277 c.420G>A p.W140* Substitution - Nonsense 38 16:8855188-8855188 - - PATHOGENIC .98546 Confirmed somatic variant 545 NS NS 35 ENSP00000455855.1:p.Trp140Ter ENST00000567554.5:c.420G>A 16:g.8855188C>T TRERF1_ENST00000372917 ENST00000372917.8 2871 18273 A673 2294580 2160607 bone NS NS NS Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour NS NS NS y COSV61675352 COSM4586759 112202954 c.2263G>T p.E755* Substitution - Nonsense 38 6:42236276-42236276 - - PATHOGENIC .93511 Variant of unknown origin 25186949 cell-line NS ENSP00000362008.5:p.Glu755Ter ENST00000372917.8:c.2263G>T 6:g.42236276C>A TRERF1_ENST00000372917 ENST00000372917.8 2871 18273 LUAD-YINHD 1765263 1669583 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV61678291 COSM351414 112205190 c.541C>T p.Q181* Substitution - Nonsense 38 6:42268567-42268567 - - PATHOGENIC .98238 Variant of unknown origin 22980975 surgery - NOS primary 65 ENSP00000362008.5:p.Gln181Ter ENST00000372917.8:c.541C>T 6:g.42268567G>A CDH6 ENST00000265071.2 2373 1765 LUAD-5V8LT 1765104 1669424 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV54080249 COSM402587 101109101 c.256G>T p.G86* Substitution - Nonsense 38 5:31293989-31293989 + - PATHOGENIC .99215 Variant of unknown origin 22980975 surgery - NOS primary 52 ENSP00000265071.2:p.Gly86Ter ENST00000265071.2:c.256G>T 5:g.31293989G>T NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 H_LV-1202-1316414 2767778 2625997 breast NS NS NS carcinoma ER-positive_carcinoma NS NS n COSV100657754 COSM7344801 119145343 c.1144G>T p.E382* Substitution - Nonsense 38 12:124429615-124429615 - - PATHOGENIC .99091 Variant of unknown origin 30181556 surgery-fixed NS ENSP00000384202.1:p.Glu382Ter ENST00000404621.5:c.1144G>T 12:g.124429615C>A MFN2_ENST00000444836 ENST00000444836.5 2274 16877 TCGA-D3-A2JP-06 2121524 1995760 skin NS NS NS malignant_melanoma NS NS NS y COSV99336945 COSM8145949 129934564 c.1789G>T p.E597* Substitution - Nonsense 38 1:12006610-12006610 + - PATHOGENIC .99182 Confirmed somatic variant 540 NS NS 37 ENSP00000416338.1:p.Glu597Ter ENST00000444836.5:c.1789G>T 1:g.12006610G>T BAG6_ENST00000375976 ENST00000375976.8 3381 13919 S00827 1759193 1663941 lung NS NS NS carcinoma small_cell_carcinoma NS NS y COSV52992674 COSM309431 114561543 c.595C>T p.Q199* Substitution - Nonsense 38 6:31647784-31647784 - - PATHOGENIC .89577 Reported in another cancer sample as somatic 22941188 fresh/frozen - NOS NS 73 ENSP00000365143.4:p.Gln199Ter ENST00000375976.8:c.595C>T 6:g.31647784G>A BAG6_ENST00000375976 ENST00000375976.8 3381 13919 W9T 2745043 2603746 thyroid NS NS NS carcinoma NS NS NS y COSV52991245 COSM6423312 114562773 c.934G>T p.E312* Substitution - Nonsense 38 6:31645589-31645589 - - PATHOGENIC .91021 Confirmed somatic variant 676 NS primary 17 ENSP00000365143.4:p.Glu312Ter ENST00000375976.8:c.934G>T 6:g.31645589C>A NEUROG2 ENST00000313341.3 819 13805 T1222 2658242 2518401 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV57636838 COSM6724920 106265755 c.364C>T p.R122* Substitution - Nonsense 38 4:112515112-112515112 - - .63259 Confirmed somatic variant 27149842 NS NS 71.91 ENSP00000317333.3:p.Arg122Ter ENST00000313341.3:c.364C>T 4:g.112515112G>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 H_KU-901-901_B_core 2768646 2626865 breast NS NS NS carcinoma hormone_receptor-positive_carcinoma NS NS n COSV100657396 COSM7344830 119142295 c.3116G>A p.W1039* Substitution - Nonsense 38 12:124356737-124356737 - - PATHOGENIC .88269 Variant of unknown origin 30181556 surgery-fixed NS ENSP00000384202.1:p.Trp1039Ter ENST00000404621.5:c.3116G>A 12:g.124356737C>T BAG6_ENST00000375976 ENST00000375976.8 3381 13919 PD6406a 1491594 1414752 breast NS NS NS carcinoma ductal_carcinoma NS NS y COSV52992863 COSM5768892 114565646 c.922G>T p.E308* Substitution - Nonsense 38 6:31645601-31645601 - - PATHOGENIC .97391 Confirmed somatic variant 652 NS primary ENSP00000365143.4:p.Glu308Ter ENST00000375976.8:c.922G>T 6:g.31645601C>A TACC3_ENST00000617535 ENST00000617535.4 438 11524 DLD1 2301972 2167255 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV57559773 COSM1670847 169250204 c.250C>T p.Q84* Substitution - Nonsense het 38 4:1723815-1723815 + - .67595 Reported in another cancer sample as somatic 24755471 cell-line NS ENSP00000483196.1:p.Gln84Ter ENST00000617535.4:c.250C>T 4:g.1723815C>T SELP_ENST00000458599 ENST00000458599.6 1941 10721 CSCC-57-T 2292489 2158553 skin head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV55249066 COSM4544209 133382154 c.351G>A p.W117* Substitution - Nonsense het 38 1:169617158-169617158 - - PATHOGENIC .98806 Confirmed somatic variant 25303977 surgery fresh/frozen primary 76 ENSP00000399368.2:p.Trp117Ter ENST00000458599.6:c.351G>A 1:g.169617158C>T NEUROG2 ENST00000313341.3 819 13805 TCGA-C5-A7CJ-01 2263060 2130044 cervix NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV57638171 COSM4821429 106265107 c.409G>T p.E137* Substitution - Nonsense 38 4:112515067-112515067 - - NEUTRAL .11526 Confirmed somatic variant 415 NS primary 42 ENSP00000317333.3:p.Glu137Ter ENST00000313341.3:c.409G>T 4:g.112515067C>A HFE_ENST00000461397 ENST00000461397.5 1005 4886 EC13 2906907 2761189 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV105892142 COSM10007099 131884111 c.282G>A p.W94* Substitution - Nonsense 38 6:26091046-26091046 + - PATHOGENIC .91674 Confirmed somatic variant 33016334 surgery-fixed NS ENSP00000420802.1:p.Trp94Ter ENST00000461397.5:c.282G>A 6:g.26091046G>A HFE_ENST00000461397 ENST00000461397.5 1005 4886 TCGA-25-2042-01 1474961 1398660 ovary NS NS NS carcinoma serous_carcinoma NS NS y COSV58512483 COSM117979 131882952 c.405C>A p.Y135* Substitution - Nonsense het 38 6:26091378-26091378 + - PATHOGENIC .74205 Confirmed somatic variant 21720365 331 NS primary 60 ENSP00000420802.1:p.Tyr135Ter ENST00000461397.5:c.405C>A 6:g.26091378C>A HFE_ENST00000461397 ENST00000461397.5 1005 4886 AH13_2 2906906 2761188 endometrium NS NS NS hyperplasia atypical NS NS y COSV105892142 COSM10007099 131884111 c.282G>A p.W94* Substitution - Nonsense 38 6:26091046-26091046 + - PATHOGENIC .91674 Confirmed somatic variant 33016334 surgery-fixed NS ENSP00000420802.1:p.Trp94Ter ENST00000461397.5:c.282G>A 6:g.26091046G>A TP73_ENST00000604479 ENST00000604479.5 1623 12003 P7 2877796 2732311 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm diffuse_large_B_cell_lymphoma NS NS n COSV60699868 COSM5441226 167371522 c.290C>A p.S97* Substitution - Nonsense 38 1:3707652-3707652 + - PATHOGENIC .84509 Reported in another cancer sample as somatic 32187361 surgery-fixed primary ENSP00000474322.1:p.Ser97Ter ENST00000604479.5:c.290C>A 1:g.3707652C>A TP73_ENST00000604479 ENST00000604479.5 1623 12003 S00936 1759210 1663958 lung NS NS NS carcinoma small_cell_carcinoma NS NS n COSV60698746 COSM316092 167371900 c.1078C>T p.R360* Substitution - Nonsense 38 1:3729330-3729330 + - PATHOGENIC .91091 Reported in another cancer sample as somatic 22941188 fresh/frozen - NOS NS 50 ENSP00000474322.1:p.Arg360Ter ENST00000604479.5:c.1078C>T 1:g.3729330C>T CDH6 ENST00000265071.2 2373 1765 HCC2998 2301977 2167260 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV54067130 COSM1671550 101095611 c.676C>T p.R226* Substitution - Nonsense het 38 5:31299496-31299496 + - PATHOGENIC .91284 Reported in another cancer sample as somatic 24755471 cell-line NS ENSP00000265071.2:p.Arg226Ter ENST00000265071.2:c.676C>T 5:g.31299496C>T CDH6 ENST00000265071.2 2373 1765 UACC-257 1998488 1883560 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm hairy_cell_leukaemia NS NS y COSV54067130 COSM1671550 101095611 c.676C>T p.R226* Substitution - Nonsense het 38 5:31299496-31299496 + - PATHOGENIC .91284 Confirmed somatic variant 23856246 cell-line primary ENSP00000265071.2:p.Arg226Ter ENST00000265071.2:c.676C>T 5:g.31299496C>T MFN2_ENST00000444836 ENST00000444836.5 2274 16877 RK143_C01 2120983 1995219 liver NS NS NS carcinoma NS NS NS y COSV52420654 COSM3700474 129934537 c.811G>T p.E271* Substitution - Nonsense 38 1:11999090-11999090 + - PATHOGENIC .9783 Confirmed somatic variant 322 NS NS ENSP00000416338.1:p.Glu271Ter ENST00000444836.5:c.811G>T 1:g.11999090G>T BAG6_ENST00000375976 ENST00000375976.8 3381 13919 TCGA-EE-A2GE-06 2121657 1995893 skin NS NS NS malignant_melanoma NS NS NS y COSV52994248 COSM3624643 114562407 c.2338C>T p.R780* Substitution - Nonsense 38 6:31641835-31641835 - - NEUTRAL .28098 Confirmed somatic variant 540 NS NS 44 ENSP00000365143.4:p.Arg780Ter ENST00000375976.8:c.2338C>T 6:g.31641835G>A BAG6_ENST00000375976 ENST00000375976.8 3381 13919 EXTERN_MELA_20140505_058 2839426 2695192 skin trunk NS NS malignant_melanoma NS NS NS y COSV104570447 COSM9442974 114561883 c.568C>T p.Q190* Substitution - Nonsense 38 6:31647811-31647811 - - PATHOGENIC .96698 Confirmed somatic variant 28467829 surgery fresh/frozen primary ENSP00000365143.4:p.Gln190Ter ENST00000375976.8:c.568C>T 6:g.31647811G>A TACC3_ENST00000617535 ENST00000617535.4 438 11524 HCT15 2301979 2167262 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV57559773 COSM1670847 169250204 c.250C>T p.Q84* Substitution - Nonsense het 38 4:1723815-1723815 + - .67595 Reported in another cancer sample as somatic 24755471 cell-line NS ENSP00000483196.1:p.Gln84Ter ENST00000617535.4:c.250C>T 4:g.1723815C>T HFE_ENST00000461397 ENST00000461397.5 1005 4886 T1241 2658238 2518397 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV58513471 COSM1076694 131882021 c.675G>A p.W225* Substitution - Nonsense 38 6:26092785-26092785 + - PATHOGENIC .875 Confirmed somatic variant 27149842 NS NS 68 ENSP00000420802.1:p.Trp225Ter ENST00000461397.5:c.675G>A 6:g.26092785G>A TP73_ENST00000604479 ENST00000604479.5 1623 12003 tumor_4137230 2634554 2494950 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm NS NS NS y COSV60704954 COSM6209597 167374345 c.1177C>T p.Q393* Substitution - Nonsense 38 1:3729429-3729429 + - PATHOGENIC .98078 Confirmed somatic variant 440 NS primary 50 ENSP00000474322.1:p.Gln393Ter ENST00000604479.5:c.1177C>T 1:g.3729429C>T TRERF1_ENST00000372917 ENST00000372917.8 2871 18273 NUGC-3 2807638 2664339 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV61675428 COSM3079068 112202594 c.2569C>T p.R857* Substitution - Nonsense 38 6:42228647-42228647 - - PATHOGENIC .95443 Reported in another cancer sample as somatic 24807215 cell-line NS 72 ENSP00000362008.5:p.Arg857Ter ENST00000372917.8:c.2569C>T 6:g.42228647G>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 H1155 2776231 2634367 lung NS NS NS carcinoma large_cell_carcinoma NS NS y COSV99050087 COSM7379170 119161601 c.5047C>T p.Q1683* Substitution - Nonsense 38 12:124341934-124341934 - - PATHOGENIC .96554 Variant of unknown origin 29681454 NS NS 36 ENSP00000384202.1:p.Gln1683Ter ENST00000404621.5:c.5047C>T 12:g.124341934G>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 TCGA-50-5930-01 1913992 1802274 lung right_lower_lobe NS NS carcinoma adenocarcinoma NS NS y COSV62295823 COSM6135981 119162075 c.2608G>T p.E870* Substitution - Nonsense 38 12:124372167-124372167 - - PATHOGENIC .92105 Variant of unknown origin 417 fresh/frozen - NOS primary 47 ENSP00000384202.1:p.Glu870Ter ENST00000404621.5:c.2608G>T 12:g.124372167C>A BAG6_ENST00000375976 ENST00000375976.8 3381 13919 16T 2139251 2008779 upper_aerodigestive_tract mouth gingiva NS carcinoma squamous_cell_carcinoma NS NS y COSV52989281 COSM3715468 114563739 c.1777C>T p.Q593* Substitution - Nonsense 38 6:31642987-31642987 - - PATHOGENIC .98969 Confirmed somatic variant 24292195 NS NS ENSP00000365143.4:p.Gln593Ter ENST00000375976.8:c.1777C>T 6:g.31642987G>A BAG6_ENST00000375976 ENST00000375976.8 3381 13919 TCGA-XK-AAIW-01 2339713 2204696 prostate NS NS NS carcinoma adenocarcinoma NS NS y COSV99277662 COSM9090643 114564482 c.3012G>A p.W1004* Substitution - Nonsense 38 6:31640403-31640403 - - PATHOGENIC .96121 Confirmed somatic variant 435 NS primary 78 ENSP00000365143.4:p.Trp1004Ter ENST00000375976.8:c.3012G>A 6:g.31640403C>T NEUROG2 ENST00000313341.3 819 13805 TCGA-78-7146-01 1914053 1802335 lung right_lower_lobe NS NS carcinoma adenocarcinoma NS NS y COSV100511816 COSM8672093 106265619 c.127G>T p.E43* Substitution - Nonsense 38 4:112515349-112515349 - - NEUTRAL .46459 Confirmed somatic variant 417 fresh/frozen - NOS primary 71 ENSP00000317333.3:p.Glu43Ter ENST00000313341.3:c.127G>T 4:g.112515349C>A NEUROG2 ENST00000313341.3 819 13805 TCGA-C5-A1BQ-01 2193402 2061680 cervix NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV57637717 COSM4842412 106265786 c.626C>A p.S209* Substitution - Nonsense 38 4:112514850-112514850 - - PATHOGENIC .80711 Confirmed somatic variant 415 NS NS 65 ENSP00000317333.3:p.Ser209Ter ENST00000313341.3:c.626C>A 4:g.112514850G>T NEUROG2 ENST00000313341.3 819 13805 TCGA-HT-7884-01 2194199 2062477 central_nervous_system brain NS NS glioma NS NS NS y COSV57638343 COSM3974673 106265389 c.486G>A p.W162* Substitution - Nonsense 38 4:112514990-112514990 - - PATHOGENIC .91444 Confirmed somatic variant 545 NS NS 44 ENSP00000317333.3:p.Trp162Ter ENST00000313341.3:c.486G>A 4:g.112514990C>T HFE_ENST00000461397 ENST00000461397.5 1005 4886 ILMN13 2816773 2673124 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS y COSV104396634 COSM9251392 131882774 c.892G>T p.G298* Substitution - Nonsense 38 6:26093160-26093160 + - PATHOGENIC .92735 Confirmed somatic variant 29937994 surgery fresh/frozen NS 54 ENSP00000420802.1:p.Gly298Ter ENST00000461397.5:c.892G>T 6:g.26093160G>T HFE_ENST00000461397 ENST00000461397.5 1005 4886 AH13_1 2906905 2761089 endometrium NS NS NS hyperplasia atypical NS NS y COSV105892142 COSM10007099 131884111 c.282G>A p.W94* Substitution - Nonsense 38 6:26091046-26091046 + - PATHOGENIC .91674 Confirmed somatic variant 33016334 surgery-fixed NS ENSP00000420802.1:p.Trp94Ter ENST00000461397.5:c.282G>A 6:g.26091046G>A ARHGAP18 ENST00000368149.2 1992 21035 LUAD-B00416 1765256 1669576 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV63765311 COSM331484 110356528 c.289G>T p.E97* Substitution - Nonsense 38 6:129641843-129641843 - - PATHOGENIC .91904 Variant of unknown origin 22980975 surgery - NOS primary 59 ENSP00000357131.2:p.Glu97Ter ENST00000368149.2:c.289G>T 6:g.129641843C>A ARHGAP18 ENST00000368149.2 1992 21035 SNU-C2B 2302010 2167293 large_intestine colon right NS carcinoma adenocarcinoma NS NS y COSV63763584 COSM3172714 110357189 c.922C>T p.Q308* Substitution - Nonsense het 38 6:129618717-129618717 - - PATHOGENIC .89258 Variant of unknown origin 24755471 cell-line NS ENSP00000357131.2:p.Gln308Ter ENST00000368149.2:c.922C>T 6:g.129618717G>A ARHGAP18 ENST00000368149.2 1992 21035 LUAD-D01278 1765177 1669497 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV63765169 COSM362985 110356640 c.1693C>T p.Q565* Substitution - Nonsense 38 6:129599236-129599236 - - PATHOGENIC .84432 Variant of unknown origin 22980975 surgery - NOS primary 60 ENSP00000357131.2:p.Gln565Ter ENST00000368149.2:c.1693C>T 6:g.129599236G>A HFE_ENST00000461397 ENST00000461397.5 1005 4886 S02289_1 2480893 2343638 lung NS NS NS carcinoma small_cell_carcinoma NS NS y COSV58513426 COSM5686198 131883008 c.340G>T p.E114* Substitution - Nonsense 38 6:26091104-26091104 + - PATHOGENIC .83935 Confirmed somatic variant 26168399 surgery fresh/frozen primary 58 ENSP00000420802.1:p.Glu114Ter ENST00000461397.5:c.340G>T 6:g.26091104G>T FLNB_ENST00000295956 ENST00000295956.8 7809 3755 TCGA-46-3768-01 1781809 1685808 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV55869457 COSM731802 100487450 c.1492G>T p.E498* Substitution - Nonsense 38 3:58103967-58103967 + - PATHOGENIC .98385 Variant of unknown origin 418 fresh/frozen - NOS primary 58 ENSP00000295956.4:p.Glu498Ter ENST00000295956.8:c.1492G>T 3:g.58103967G>T NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 LUAD-S01315 1765261 1669581 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV62302833 COSM344120 119143845 c.3383C>G p.S1128* Substitution - Nonsense 38 12:124354908-124354908 - - PATHOGENIC .90798 Reported in another cancer sample as somatic 22980975 surgery - NOS primary 77 ENSP00000384202.1:p.Ser1128Ter ENST00000404621.5:c.3383C>G 12:g.124354908G>C MFN2_ENST00000444836 ENST00000444836.5 2274 16877 TCGA-CG-4476-01 2198080 2066358 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV52424952 COSM4021332 129934135 c.1117C>T p.R373* Substitution - Nonsense 38 1:12002060-12002060 + - PATHOGENIC .96713 Confirmed somatic variant 541 NS NS 69 ENSP00000416338.1:p.Arg373Ter ENST00000444836.5:c.1117C>T 1:g.12002060C>T MFN2_ENST00000444836 ENST00000444836.5 2274 16877 537LC 2637273 2497646 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV52425267 COSM6485949 129934046 c.193G>T p.E65* Substitution - Nonsense het 38 1:11992572-11992572 + - PATHOGENIC .99753 Confirmed somatic variant 26503331 surgery fresh/frozen NS 70 ENSP00000416338.1:p.Glu65Ter ENST00000444836.5:c.193G>T 1:g.11992572G>T TACC3_ENST00000617535 ENST00000617535.4 438 11524 HCT-15 1998443 1883515 large_intestine colon NS NS carcinoma NS NS NS y COSV57559773 COSM1670847 169250204 c.250C>T p.Q84* Substitution - Nonsense het 38 4:1723815-1723815 + - .67595 Confirmed somatic variant 23856246 cell-line primary ENSP00000483196.1:p.Gln84Ter ENST00000617535.4:c.250C>T 4:g.1723815C>T SELP_ENST00000458599 ENST00000458599.6 1941 10721 YURTHE 2013678 1896310 skin NS NS NS malignant_melanoma NS NS NS y COSV55251327 COSM1689139 133380109 c.273G>A p.W91* Substitution - Nonsense het 38 1:169617236-169617236 - - PATHOGENIC .98165 Confirmed somatic variant 22842228 NS NS ENSP00000399368.2:p.Trp91Ter ENST00000458599.6:c.273G>A 1:g.169617236C>T SELP_ENST00000458599 ENST00000458599.6 1941 10721 WGC003590 2785045 2645161 biliary_tract bile_duct NS NS carcinoma adenocarcinoma NS NS y COSV99741470 COSM7421744 133384940 c.1579A>T p.K527* Substitution - Nonsense 38 1:169594848-169594848 - - NEUTRAL .08271 Confirmed somatic variant 25526346 surgery fresh/frozen primary 44 ENSP00000399368.2:p.Lys527Ter ENST00000458599.6:c.1579A>T 1:g.169594848T>A MCF2L_ENST00000375604 ENST00000375604.6 3372 14576 TCGA-EE-A181-06 2121622 1995858 skin NS NS NS malignant_melanoma NS NS NS y COSV100982742 COSM7935842 113449612 c.1106C>A p.S369* Substitution - Nonsense 38 13:113074559-113074559 + - PATHOGENIC .94609 Confirmed somatic variant 540 NS NS 82 ENSP00000364754.3:p.Ser369Ter ENST00000375604.6:c.1106C>A 13:g.113074559C>A ARHGAP18 ENST00000368149.2 1992 21035 23 2823253 2679106 ovary NS NS NS sex_cord-stromal_tumour granulosa_cell_tumour NS NS y COSV104678485 COSM9362692 110352266 c.1384C>T p.Q462* Substitution - Nonsense 38 6:129600830-129600830 - - PATHOGENIC .978 Variant of unknown origin 30166312 surgery fresh/frozen recurrent ENSP00000357131.2:p.Gln462Ter ENST00000368149.2:c.1384C>T 6:g.129600830G>A ARHGAP18 ENST00000368149.2 1992 21035 TCGA-A5-A0GP-01 1783315 1687314 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV63765172 COSM1073168 110354873 c.592G>T p.E198* Substitution - Nonsense het 38 6:129634066-129634066 - - PATHOGENIC .93654 Variant of unknown origin 419 fresh/frozen - NOS primary 58 ENSP00000357131.2:p.Glu198Ter ENST00000368149.2:c.592G>T 6:g.129634066C>A ARHGAP18 ENST00000368149.2 1992 21035 HCC130T 1919186 1806507 liver NS NS NS carcinoma NS NS NS y COSV63765174 COSM1620892 110354886 c.697G>T p.E233* Substitution - Nonsense het 38 6:129629442-129629442 - - PATHOGENIC .96605 Reported in another cancer sample as somatic 323 fresh/frozen - NOS primary ENSP00000357131.2:p.Glu233Ter ENST00000368149.2:c.697G>T 6:g.129629442C>A TP73_ENST00000604479 ENST00000604479.5 1623 12003 S02255_1 2480881 2343626 lung NS NS NS carcinoma small_cell_carcinoma NS NS y COSV60704545 COSM5680333 167374678 c.101C>A p.S34* Substitution - Nonsense 38 1:3683095-3683095 + - .58365 Confirmed somatic variant 26168399 surgery fresh/frozen primary 64 ENSP00000474322.1:p.Ser34Ter ENST00000604479.5:c.101C>A 1:g.3683095C>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 HCC94T 1919251 1806572 liver NS NS NS carcinoma NS NS NS y COSV62298041 COSM1605741 119147333 c.4953C>G p.Y1651* Substitution - Nonsense het 38 12:124342028-124342028 - - PATHOGENIC .96468 Reported in another cancer sample as somatic 323 fresh/frozen - NOS primary ENSP00000384202.1:p.Tyr1651Ter ENST00000404621.5:c.4953C>G 12:g.124342028G>C BAG6_ENST00000375976 ENST00000375976.8 3381 13919 TCGA-4Z-AA89-01 2385733 2248565 urinary_tract bladder NS NS carcinoma NS NS NS y COSV99276915 COSM7644988 114560194 c.3061C>T p.Q1021* Substitution - Nonsense 38 6:31640276-31640276 - - PATHOGENIC .81014 Confirmed somatic variant 413 NS primary 60 ENSP00000365143.4:p.Gln1021Ter ENST00000375976.8:c.3061C>T 6:g.31640276G>A SELP_ENST00000458599 ENST00000458599.6 1941 10721 TCGA-22-1012-01 1780772 1684771 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV55251853 COSM677247 133374928 c.1562C>A p.S521* Substitution - Nonsense 38 1:169594865-169594865 - - NEUTRAL .24218 Confirmed somatic variant 418 fresh/frozen - NOS primary 80 ENSP00000399368.2:p.Ser521Ter ENST00000458599.6:c.1562C>A 1:g.169594865G>T SELP_ENST00000458599 ENST00000458599.6 1941 10721 TCGA-FS-A4FC-06 2121780 1996016 skin NS NS NS malignant_melanoma NS NS NS y COSV55257811 COSM3478058 133374811 c.435G>A p.W145* Substitution - Nonsense 38 1:169617074-169617074 - - PATHOGENIC .98688 Confirmed somatic variant 540 NS NS 75 ENSP00000399368.2:p.Trp145Ter ENST00000458599.6:c.435G>A 1:g.169617074C>T SELP_ENST00000458599 ENST00000458599.6 1941 10721 T578 2658233 2518392 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV55250304 COSM4724662 133379141 c.200T>G p.L67* Substitution - Nonsense 38 1:169617309-169617309 - - PATHOGENIC .99152 Confirmed somatic variant 27149842 NS NS 61.08 ENSP00000399368.2:p.Leu67Ter ENST00000458599.6:c.200T>G 1:g.169617309A>C SELP_ENST00000458599 ENST00000458599.6 1941 10721 TCGA-AA-A010-01 1651109 1565896 large_intestine colon transverse NS carcinoma adenocarcinoma NS NS y COSV55247982 COSM284876 133382220 c.153C>A p.Y51* Substitution - Nonsense 38 1:169617356-169617356 - - NEUTRAL .3866 Confirmed somatic variant 22810696 376 NS NS 46 ENSP00000399368.2:p.Tyr51Ter ENST00000458599.6:c.153C>A 1:g.169617356G>T SELP_ENST00000458599 ENST00000458599.6 1941 10721 011T 2067095 1946892 liver NS NS NS carcinoma hepatocellular_carcinoma NS NS y COSV55251255 COSM1727640 133376692 c.155C>G p.S52* Substitution - Nonsense 38 1:169617354-169617354 - - NEUTRAL .45886 Confirmed somatic variant 23788652 surgery - NOS primary ENSP00000399368.2:p.Ser52Ter ENST00000458599.6:c.155C>G 1:g.169617354G>C MCF2L_ENST00000375604 ENST00000375604.6 3372 14576 TCGA-CX-7086-01 2193676 2061954 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99995509 COSM8384127 113438390 c.3002C>G p.S1001* Substitution - Nonsense 38 13:113094568-113094568 + - PATHOGENIC .89977 Confirmed somatic variant 627 NS NS 53 ENSP00000364754.3:p.Ser1001Ter ENST00000375604.6:c.3002C>G 13:g.113094568C>G MCF2L_ENST00000375604 ENST00000375604.6 3372 14576 TCGA-ZF-AA4X-01 2385833 2248665 urinary_tract bladder NS NS carcinoma NS NS NS y COSV100982573 COSM7648574 113442931 c.934C>T p.Q312* Substitution - Nonsense 38 13:113070117-113070117 + - PATHOGENIC .907 Confirmed somatic variant 413 NS primary 56 ENSP00000364754.3:p.Gln312Ter ENST00000375604.6:c.934C>T 13:g.113070117C>T ARHGAP18 ENST00000368149.2 1992 21035 TCGA-ER-A19N-06 2121724 1995960 skin NS NS NS malignant_melanoma NS NS NS y COSV100936051 COSM8044716 110356985 c.25G>T p.G9* Substitution - Nonsense 38 6:129710112-129710112 - - .61843 Confirmed somatic variant 540 NS NS 47 ENSP00000357131.2:p.Gly9Ter ENST00000368149.2:c.25G>T 6:g.129710112C>A ARHGAP18 ENST00000368149.2 1992 21035 1305 2772706 2630888 urinary_tract bladder NS NS carcinoma transitional_cell_carcinoma papillary_transitional_cell_carcinoma_non_invasive NS y COSV99080801 COSM7400179 110353687 c.1270C>T p.Q424* Substitution - Nonsense 38 6:129607905-129607905 - - PATHOGENIC .9201 Confirmed somatic variant 29136510 surgery fresh/frozen primary 86 ENSP00000357131.2:p.Gln424Ter ENST00000368149.2:c.1270C>T 6:g.129607905G>A MYL3_ENST00000292327 ENST00000292327.4 588 7584 1N62-VS-1T62 2582891 2444146 oesophagus NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV52768367 COSM4977900 98015542 c.253C>T p.Q85* Substitution - Nonsense 38 3:46860730-46860730 - - PATHOGENIC .98185 Confirmed somatic variant 26759717 surgery - NOS NS 60 ENSP00000292327.4:p.Gln85Ter ENST00000292327.4:c.253C>T 3:g.46860730G>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 H_KU-32-1316274 2767875 2626094 breast NS NS NS carcinoma ER-positive_carcinoma NS NS n COSV100657344 COSM1299094 119148670 c.2983C>T p.Q995* Substitution - Nonsense 38 12:124362189-124362189 - - PATHOGENIC .89754 Reported in another cancer sample as somatic 30181556 surgery-fixed NS ENSP00000384202.1:p.Gln995Ter ENST00000404621.5:c.2983C>T 12:g.124362189G>A MFN2_ENST00000444836 ENST00000444836.5 2274 16877 TCGA-32-4208-01 2120355 1994591 central_nervous_system brain NS NS glioma astrocytoma_Grade_IV glioblastoma_multiforme NS y COSV52421632 COSM3399615 129933070 c.183C>G p.Y61* Substitution - Nonsense 38 1:11992562-11992562 + - PATHOGENIC .98019 Confirmed somatic variant 329 NS NS 25 ENSP00000416338.1:p.Tyr61Ter ENST00000444836.5:c.183C>G 1:g.11992562C>G SELP_ENST00000458599 ENST00000458599.6 1941 10721 T578 2296255 2161858 large_intestine caecum NS NS carcinoma adenocarcinoma NS NS y COSV55250304 COSM4724662 133379141 c.200T>G p.L67* Substitution - Nonsense 38 1:169617309-169617309 - - PATHOGENIC .99152 Confirmed somatic variant 25344691 NS NS 61.08 ENSP00000399368.2:p.Leu67Ter ENST00000458599.6:c.200T>G 1:g.169617309A>C MCF2L_ENST00000375604 ENST00000375604.6 3372 14576 TCGA-CA-6718-01 1651189 1565976 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS y COSV65049131 COSM1365566 113445360 c.1504C>T p.R502* Substitution - Nonsense 38 13:113077061-113077061 + - PATHOGENIC .92008 Confirmed somatic variant 376 NS NS 46 ENSP00000364754.3:p.Arg502Ter ENST00000375604.6:c.1504C>T 13:g.113077061C>T ARHGAP18 ENST00000368149.2 1992 21035 GCYC_067_T 2747650 2606353 stomach NS NS NS carcinoma NS NS NS y COSV100936291 COSM8529423 110359023 c.1738C>T p.R580* Substitution - Nonsense 38 6:129584088-129584088 - - PATHOGENIC .97522 Confirmed somatic variant 683 NS primary ENSP00000357131.2:p.Arg580Ter ENST00000368149.2:c.1738C>T 6:g.129584088G>A MYL3_ENST00000292327 ENST00000292327.4 588 7584 TCGA-94-A4VJ-01 2262815 2129799 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99439598 COSM8764234 98015690 c.106G>T p.E36* Substitution - Nonsense 38 3:46863285-46863285 - - .51433 Confirmed somatic variant 418 NS primary 71 ENSP00000292327.4:p.Glu36Ter ENST00000292327.4:c.106G>T 3:g.46863285C>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 2443926 2443926 2306765 prostate NS NS NS carcinoma adenocarcinoma NS NS n COSV62297116 COSM6384108 119146600 c.5815C>T p.R1939* Substitution - Nonsense 38 12:124337023-124337023 - - PATHOGENIC .92449 Reported in another cancer sample as somatic 25586381 surgery-fixed NS 59 ENSP00000384202.1:p.Arg1939Ter ENST00000404621.5:c.5815C>T 12:g.124337023G>A MFN2_ENST00000444836 ENST00000444836.5 2274 16877 MELA_35619 2760727 2619260 skin head_neck NS NS malignant_melanoma nodular NS NS y COSV104580888 COSM9296398 129935629 c.2219G>A p.W740* Substitution - Nonsense 38 1:12011510-12011510 + - PATHOGENIC .9818 Confirmed somatic variant 30178487 surgery fresh/frozen metastasis 25 ENSP00000416338.1:p.Trp740Ter ENST00000444836.5:c.2219G>A 1:g.12011510G>A BAG6_ENST00000375976 ENST00000375976.8 3381 13919 OSCC-GB_00160111 2121055 1995291 upper_aerodigestive_tract mouth NS NS carcinoma NS NS NS y COSV52989281 COSM3715468 114563739 c.1777C>T p.Q593* Substitution - Nonsense 38 6:31642987-31642987 - - PATHOGENIC .98969 Confirmed somatic variant 539 NS NS ENSP00000365143.4:p.Gln593Ter ENST00000375976.8:c.1777C>T 6:g.31642987G>A SELP_ENST00000458599 ENST00000458599.6 1941 10721 LCNEC_G4T 2802099 2658913 NS NS NS NS carcinoma neuroendocrine_carcinoma NS NS y COSV99739296 COSM9147666 133382854 c.1143T>A p.C381* Substitution - Nonsense 38 1:169609508-169609508 - - PATHOGENIC .85815 Confirmed somatic variant 26432419 surgery - NOS NS 70 ENSP00000399368.2:p.Cys381Ter ENST00000458599.6:c.1143T>A 1:g.169609508A>T SELP_ENST00000458599 ENST00000458599.6 1941 10721 2237 1962651 1849199 salivary_gland NS NS NS carcinoma adenoid_cystic_carcinoma NS NS y COSV55258752 COSM1644979 133376689 c.132T>A p.Y44* Substitution - Nonsense 38 1:169617377-169617377 - - NEUTRAL .33941 Confirmed somatic variant 23685749 surgery fresh/frozen primary 46 ENSP00000399368.2:p.Tyr44Ter ENST00000458599.6:c.132T>A 1:g.169617377A>T ARHGAP18 ENST00000368149.2 1992 21035 3T05 2745711 2604414 oesophagus NS NS NS carcinoma NS NS NS y COSV63763443 COSM4978810 110354218 c.413C>A p.S138* Substitution - Nonsense 38 6:129638533-129638533 - - PATHOGENIC .93763 Confirmed somatic variant 582 NS primary 54 ENSP00000357131.2:p.Ser138Ter ENST00000368149.2:c.413C>A 6:g.129638533G>T MYL3_ENST00000292327 ENST00000292327.4 588 7584 1N62-VS-1T62 2363574 2226501 oesophagus NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV52768367 COSM4977900 98015542 c.253C>T p.Q85* Substitution - Nonsense 38 3:46860730-46860730 - - PATHOGENIC .98185 Confirmed somatic variant 25839328 NS NS 60 ENSP00000292327.4:p.Gln85Ter ENST00000292327.4:c.253C>T 3:g.46860730G>A TP73_ENST00000604479 ENST00000604479.5 1623 12003 05-123E2 2575154 2436491 prostate NS NS NS carcinoma adenocarcinoma NS NS y COSV60702185 COSM5993063 167372090 c.904C>T p.R302* Substitution - Nonsense 38 1:3727689-3727689 + - PATHOGENIC .87199 Confirmed somatic variant 26928463 autopsy - NOS metastasis 80 ENSP00000474322.1:p.Arg302Ter ENST00000604479.5:c.904C>T 1:g.3727689C>T FLNB_ENST00000295956 ENST00000295956.8 7809 3755 A427 2776222 2634358 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV55900217 COSM2782267 100496014 c.202C>T p.Q68* Substitution - Nonsense 38 3:58008766-58008766 + - PATHOGENIC .94513 Variant of unknown origin 29681454 NS NS 52 ENSP00000295956.4:p.Gln68Ter ENST00000295956.8:c.202C>T 3:g.58008766C>T TRERF1_ENST00000372917 ENST00000372917.8 2871 18273 PT37 2521294 2383637 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV61679206 COSM5919176 112198612 c.1630C>T p.Q544* Substitution - Nonsense 38 6:42257077-42257077 - - PATHOGENIC .99575 Confirmed somatic variant 25759019 surgery fresh/frozen NS ENSP00000362008.5:p.Gln544Ter ENST00000372917.8:c.1630C>T 6:g.42257077G>A CDH6 ENST00000265071.2 2373 1765 TCGA-AJ-A3EK-01 2198284 2066562 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV99419074 COSM8902246 101102855 c.739G>T p.G247* Substitution - Nonsense 38 5:31299559-31299559 + - PATHOGENIC .99315 Confirmed somatic variant 419 NS NS 53 ENSP00000265071.2:p.Gly247Ter ENST00000265071.2:c.739G>T 5:g.31299559G>T CDH6 ENST00000265071.2 2373 1765 TCGA-56-8629-01 2195118 2063396 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99420123 COSM8751618 101099226 c.1012G>T p.E338* Substitution - Nonsense 38 5:31305186-31305186 + - PATHOGENIC .99564 Confirmed somatic variant 418 NS NS 63 ENSP00000265071.2:p.Glu338Ter ENST00000265071.2:c.1012G>T 5:g.31305186G>T CDH6 ENST00000265071.2 2373 1765 HUB-02-B2-008 2607083 2466797 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV54072127 COSM6053235 101098115 c.1993G>T p.G665* Substitution - Nonsense 38 5:31322928-31322928 + - PATHOGENIC .96648 Confirmed somatic variant 670 organoid culture NS ENSP00000265071.2:p.Gly665Ter ENST00000265071.2:c.1993G>T 5:g.31322928G>T BAG6_ENST00000375976 ENST00000375976.8 3381 13919 TCGA-14-1458-01 2178204 2046502 central_nervous_system brain NS NS glioma astrocytoma_Grade_IV glioblastoma_multiforme NS y COSV99277094 COSM7480115 114563724 c.508C>T p.Q170* Substitution - Nonsense 38 6:31648721-31648721 - - PATHOGENIC .95646 Confirmed somatic variant 329 NS NS 54 ENSP00000365143.4:p.Gln170Ter ENST00000375976.8:c.508C>T 6:g.31648721G>A BAG6_ENST00000375976 ENST00000375976.8 3381 13919 S00827_1 2480817 2343562 lung NS NS NS carcinoma small_cell_carcinoma NS NS y COSV52992674 COSM309431 114561543 c.595C>T p.Q199* Substitution - Nonsense 38 6:31647784-31647784 - - PATHOGENIC .89577 Confirmed somatic variant 26168399 surgery fresh/frozen primary 73 ENSP00000365143.4:p.Gln199Ter ENST00000375976.8:c.595C>T 6:g.31647784G>A SELP_ENST00000458599 ENST00000458599.6 1941 10721 TCGA-85-8481-01 2195168 2063446 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV55251853 COSM677247 133374928 c.1562C>A p.S521* Substitution - Nonsense 38 1:169594865-169594865 - - NEUTRAL .24218 Confirmed somatic variant 418 NS NS 70 ENSP00000399368.2:p.Ser521Ter ENST00000458599.6:c.1562C>A 1:g.169594865G>T SELP_ENST00000458599 ENST00000458599.6 1941 10721 S01020_1 2480840 2343585 lung NS NS NS carcinoma small_cell_carcinoma NS NS y COSV55252471 COSM5664738 133378699 c.727G>T p.E243* Substitution - Nonsense 38 1:169612977-169612977 - - NEUTRAL .06933 Confirmed somatic variant 26168399 autopsy-fresh/frozen primary 33 ENSP00000399368.2:p.Glu243Ter ENST00000458599.6:c.727G>T 1:g.169612977C>A ARHGAP18 ENST00000368149.2 1992 21035 3N05-VS-3T05 2582900 2444155 oesophagus NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV63763443 COSM4978810 110354218 c.413C>A p.S138* Substitution - Nonsense 38 6:129638533-129638533 - - PATHOGENIC .93763 Confirmed somatic variant 26759717 surgery - NOS NS 54 ENSP00000357131.2:p.Ser138Ter ENST00000368149.2:c.413C>A 6:g.129638533G>T MYL3_ENST00000292327 ENST00000292327.4 588 7584 1T62 2745702 2604405 oesophagus NS NS NS carcinoma NS NS NS y COSV52768367 COSM4977900 98015542 c.253C>T p.Q85* Substitution - Nonsense 38 3:46860730-46860730 - - PATHOGENIC .98185 Confirmed somatic variant 582 NS primary 60 ENSP00000292327.4:p.Gln85Ter ENST00000292327.4:c.253C>T 3:g.46860730G>A CDH6 ENST00000265071.2 2373 1765 TCGA-VQ-A8DT-01 2339969 2204952 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV99420981 COSM8186695 101097300 c.1059T>G p.Y353* Substitution - Nonsense 38 5:31305233-31305233 + - NEUTRAL .18036 Confirmed somatic variant 541 NS primary 43 ENSP00000265071.2:p.Tyr353Ter ENST00000265071.2:c.1059T>G 5:g.31305233T>G NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 T3729 2658276 2518435 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV62298736 COSM3730608 119141988 c.3985C>T p.R1329* Substitution - Nonsense 38 12:124347882-124347882 - - PATHOGENIC .92181 Confirmed somatic variant 27149842 NS NS 83.91 ENSP00000384202.1:p.Arg1329Ter ENST00000404621.5:c.3985C>T 12:g.124347882G>A BAG6_ENST00000375976 ENST00000375976.8 3381 13919 MBC_36 2662738 2522862 breast NS NS NS carcinoma ER-PR-positive_carcinoma NS NS y COSV52995141 COSM3253633 114561318 c.3173C>G p.S1058* Substitution - Nonsense 38 6:31639612-31639612 - - PATHOGENIC .96792 Confirmed somatic variant 28027327 fresh/frozen - NOS NS ENSP00000365143.4:p.Ser1058Ter ENST00000375976.8:c.3173C>G 6:g.31639612G>C BAG6_ENST00000375976 ENST00000375976.8 3381 13919 TCGA-CG-4476-01 2198080 2066358 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV99277286 COSM8224350 114562496 c.3316G>T p.E1106* Substitution - Nonsense 38 6:31639196-31639196 - - PATHOGENIC .97566 Confirmed somatic variant 541 NS NS 69 ENSP00000365143.4:p.Glu1106Ter ENST00000375976.8:c.3316G>T 6:g.31639196C>A BAG6_ENST00000375976 ENST00000375976.8 3381 13919 5-VS029-T1 2869849 2724846 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV105071949 COSM9728710 114564647 c.2938C>T p.R980* Substitution - Nonsense 38 6:31640477-31640477 - - PATHOGENIC .8808 Confirmed somatic variant 26950094 surgery fresh/frozen NS 87 ENSP00000365143.4:p.Arg980Ter ENST00000375976.8:c.2938C>T 6:g.31640477G>A SELP_ENST00000458599 ENST00000458599.6 1941 10721 11T 2745835 2604538 liver NS NS NS other neoplasm NS NS y COSV55251255 COSM1727640 133376692 c.155C>G p.S52* Substitution - Nonsense 38 1:169617354-169617354 - - NEUTRAL .45886 Confirmed somatic variant 660 NS primary 61 ENSP00000399368.2:p.Ser52Ter ENST00000458599.6:c.155C>G 1:g.169617354G>C USP44_ENST00000552440 ENST00000552440.5 1491 20064 TCGA-B5-A11R-01 1783409 1687408 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV51566324 COSM944674 156388188 c.997C>T p.Q333* Substitution - Nonsense het 38 12:95533260-95533260 - - PATHOGENIC .95003 Variant of unknown origin 419 fresh/frozen - NOS primary 51 ENSP00000448670.1:p.Gln333Ter ENST00000552440.5:c.997C>T 12:g.95533260G>A USP44_ENST00000552440 ENST00000552440.5 1491 20064 H125 2776318 2634454 lung NS NS NS carcinoma mixed_adenosquamous_carcinoma NS NS y COSV51564764 COSM2046369 156387757 c.73C>T p.Q25* Substitution - Nonsense 38 12:95534184-95534184 - - PATHOGENIC .95642 Variant of unknown origin 29681454 NS NS 61 ENSP00000448670.1:p.Gln25Ter ENST00000552440.5:c.73C>T 12:g.95534184G>A CDH6 ENST00000265071.2 2373 1765 HKNPC-039-Tumor-SM-64MG3 2640138 2500439 upper_aerodigestive_tract pharynx nasopharynx NS carcinoma nasopharyngeal_carcinoma NS NS y COSV54067261 COSM6452436 101109507 c.1411C>T p.R471* Substitution - Nonsense 38 5:31316228-31316228 + - PATHOGENIC .93342 Confirmed somatic variant 28098136 surgery-fixed primary 60 ENSP00000265071.2:p.Arg471Ter ENST00000265071.2:c.1411C>T 5:g.31316228C>T TESMIN_ENST00000443940 ENST00000443940.6 756 7446 2834130 2834130 2689914 skin mucosal anorectal NS malignant_melanoma NS NS NS y COSV104545848 COSM9322209 128236970 c.640C>T p.Q214* Substitution - Nonsense 38 11:68745102-68745102 - - PATHOGENIC .92796 Variant of unknown origin 28296713 surgery - NOS primary 59 ENSP00000403086.2:p.Gln214Ter ENST00000443940.6:c.640C>T 11:g.68745102G>A BAG6_ENST00000375976 ENST00000375976.8 3381 13919 T3174 2658322 2518481 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV52988628 COSM4665036 114561802 c.1039C>T p.R347* Substitution - Nonsense 38 6:31645484-31645484 - - PATHOGENIC .96164 Confirmed somatic variant 27149842 NS NS 74.41 ENSP00000365143.4:p.Arg347Ter ENST00000375976.8:c.1039C>T 6:g.31645484G>A BAG6_ENST00000375976 ENST00000375976.8 3381 13919 TCGA-JV-A5VF-01 2270007 2136775 soft_tissue NS NS NS sarcoma NS NS NS y COSV52988628 COSM4665036 114561802 c.1039C>T p.R347* Substitution - Nonsense 38 6:31645484-31645484 - - PATHOGENIC .96164 Confirmed somatic variant 635 NS NS ENSP00000365143.4:p.Arg347Ter ENST00000375976.8:c.1039C>T 6:g.31645484G>A BAG6_ENST00000375976 ENST00000375976.8 3381 13919 Thyroid-CN-WZ033T 2635094 2495490 thyroid NS NS NS carcinoma NS NS NS y COSV52991245 COSM6423312 114562773 c.934G>T p.E312* Substitution - Nonsense 38 6:31645589-31645589 - - PATHOGENIC .91021 Confirmed somatic variant 676 NS primary 17 ENSP00000365143.4:p.Glu312Ter ENST00000375976.8:c.934G>T 6:g.31645589C>A SELP_ENST00000458599 ENST00000458599.6 1941 10721 HCC515 2776311 2634447 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV99057175 COSM7389157 133385335 c.543C>A p.Y181* Substitution - Nonsense 38 1:169613632-169613632 - - PATHOGENIC .95571 Confirmed somatic variant 29681454 NS NS 39 ENSP00000399368.2:p.Tyr181Ter ENST00000458599.6:c.543C>A 1:g.169613632G>T SELP_ENST00000458599 ENST00000458599.6 1941 10721 TCGA-EE-A3AC-06 2121694 1995930 skin NS NS NS malignant_melanoma NS NS NS y COSV55248384 COSM3478036 133382143 c.1033C>T p.Q345* Substitution - Nonsense 38 1:169609618-169609618 - - NEUTRAL .06726 Confirmed somatic variant 540 NS NS 47 ENSP00000399368.2:p.Gln345Ter ENST00000458599.6:c.1033C>T 1:g.169609618G>A MCF2L_ENST00000375604 ENST00000375604.6 3372 14576 GCYC_161_T 2747578 2606281 stomach NS NS NS carcinoma NS NS NS y COSV99995501 COSM8628559 113453010 c.2209C>T p.Q737* Substitution - Nonsense 38 13:113085146-113085146 + - PATHOGENIC .97768 Confirmed somatic variant 683 NS primary ENSP00000364754.3:p.Gln737Ter ENST00000375604.6:c.2209C>T 13:g.113085146C>T USP44_ENST00000552440 ENST00000552440.5 1491 20064 ESO-874 1890971 1780340 oesophagus NS NS NS carcinoma adenocarcinoma NS NS y COSV51567449 COSM1270096 156390989 c.1063G>T p.G355* Substitution - Nonsense 38 12:95533194-95533194 - - PATHOGENIC .98432 Variant of unknown origin 23525077 surgery fresh/frozen primary 72 ENSP00000448670.1:p.Gly355Ter ENST00000552440.5:c.1063G>T 12:g.95533194C>A USP44_ENST00000552440 ENST00000552440.5 1491 20064 HCC2998 2301977 2167260 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV51562935 COSM1677255 156387852 c.790C>T p.R264* Substitution - Nonsense het 38 12:95533467-95533467 - - PATHOGENIC .91256 Reported in another cancer sample as somatic 24755471 cell-line NS ENSP00000448670.1:p.Arg264Ter ENST00000552440.5:c.790C>T 12:g.95533467G>A TP73_ENST00000604479 ENST00000604479.5 1623 12003 TCGA-FI-A2D6-01 2198447 2066725 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV60698746 COSM316092 167371900 c.1078C>T p.R360* Substitution - Nonsense 38 1:3729330-3729330 + - PATHOGENIC .91091 Confirmed somatic variant 419 NS NS 74 ENSP00000474322.1:p.Arg360Ter ENST00000604479.5:c.1078C>T 1:g.3729330C>T FLNB_ENST00000295956 ENST00000295956.8 7809 3755 2834135 2834135 2689919 skin mucosal female_genital_tract_(site_indeterminate) NS malignant_melanoma NS NS NS y COSV104607408 COSM9337983 100490481 c.1030G>T p.E344* Substitution - Nonsense 38 3:58097860-58097860 + - PATHOGENIC .94051 Variant of unknown origin 28296713 surgery - NOS primary 72 ENSP00000295956.4:p.Glu344Ter ENST00000295956.8:c.1030G>T 3:g.58097860G>T TRERF1_ENST00000372917 ENST00000372917.8 2871 18273 TCGA-34-5929-01 1781318 1685317 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV100550616 COSM8739411 112198322 c.439C>T p.Q147* Substitution - Nonsense 38 6:42268669-42268669 - - PATHOGENIC .96089 Confirmed somatic variant 418 fresh/frozen - NOS primary 78 ENSP00000362008.5:p.Gln147Ter ENST00000372917.8:c.439C>T 6:g.42268669G>A TESMIN_ENST00000443940 ENST00000443940.6 756 7446 TCGA-DR-A0ZM-01 1779769 1683768 cervix NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV54833618 COSM458417 128236426 c.749C>G p.S250* Substitution - Nonsense 38 11:68744993-68744993 - - PATHOGENIC .94175 Confirmed somatic variant 415 fresh/frozen - NOS primary 61 ENSP00000403086.2:p.Ser250Ter ENST00000443940.6:c.749C>G 11:g.68744993G>C TESMIN_ENST00000443940 ENST00000443940.6 756 7446 T2269 2296107 2161710 large_intestine colon descending NS carcinoma adenocarcinoma NS NS y COSV54834030 COSM4703581 128236923 c.520G>T p.E174* Substitution - Nonsense 38 11:68747318-68747318 - - NEUTRAL .46155 Confirmed somatic variant 25344691 NS NS 73 ENSP00000403086.2:p.Glu174Ter ENST00000443940.6:c.520G>T 11:g.68747318C>A BAG6_ENST00000375976 ENST00000375976.8 3381 13919 T3174 2296192 2161795 large_intestine colon transverse NS carcinoma adenocarcinoma NS NS y COSV52988628 COSM4665036 114561802 c.1039C>T p.R347* Substitution - Nonsense 38 6:31645484-31645484 - - PATHOGENIC .96164 Confirmed somatic variant 25344691 NS NS 74.41 ENSP00000365143.4:p.Arg347Ter ENST00000375976.8:c.1039C>T 6:g.31645484G>A BAG6_ENST00000375976 ENST00000375976.8 3381 13919 TCGA-D3-A8GB-06 2262876 2129860 skin NS NS NS malignant_melanoma NS NS NS y COSV99277541 COSM7861487 114562601 c.1366C>T p.Q456* Substitution - Nonsense 38 6:31644949-31644949 - - PATHOGENIC .90782 Confirmed somatic variant 540 NS NS 48 ENSP00000365143.4:p.Gln456Ter ENST00000375976.8:c.1366C>T 6:g.31644949G>A ARHGAP18 ENST00000368149.2 1992 21035 TCGA-EY-A1G8-01 2198478 2066756 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV100936240 COSM9070580 110355691 c.241G>T p.E81* Substitution - Nonsense 38 6:129641891-129641891 - - PATHOGENIC .97529 Confirmed somatic variant 419 NS NS 83 ENSP00000357131.2:p.Glu81Ter ENST00000368149.2:c.241G>T 6:g.129641891C>A FLNB_ENST00000295956 ENST00000295956.8 7809 3755 2834130 2834130 2689914 skin mucosal anorectal NS malignant_melanoma NS NS NS y COSV55885118 COSM2782479 100479432 c.4306C>T p.R1436* Substitution - Nonsense 38 3:58130824-58130824 + - PATHOGENIC .90693 Reported in another cancer sample as somatic 28296713 surgery - NOS primary 59 ENSP00000295956.4:p.Arg1436Ter ENST00000295956.8:c.4306C>T 3:g.58130824C>T CDH6 ENST00000265071.2 2373 1765 TCGA-DB-A4XH-01 2194223 2062501 central_nervous_system brain NS NS glioma NS NS NS y COSV54063694 COSM1436985 101096328 c.2065C>T p.R689* Substitution - Nonsense 38 5:31323000-31323000 + - PATHOGENIC .83309 Confirmed somatic variant 545 NS NS 53 ENSP00000265071.2:p.Arg689Ter ENST00000265071.2:c.2065C>T 5:g.31323000C>T NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 2_PRE-TREATMENT 2062379 1942458 NS NS NS NS malignant_melanoma NS NS NS y COSV62298184 COSM1722326 119153083 c.3117G>A p.W1039* Substitution - Nonsense hom 38 12:124356736-124356736 - - PATHOGENIC .91978 Confirmed somatic variant 24265154 surgery - NOS NS 48 ENSP00000384202.1:p.Trp1039Ter ENST00000404621.5:c.3117G>A 12:g.124356736C>T NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 ESCC_BICR_008T 2456863 2319700 oesophagus NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV62302076 COSM5428793 119155383 c.2851C>T p.R951* Substitution - Nonsense 38 12:124363702-124363702 - - PATHOGENIC .85008 Confirmed somatic variant 582 NS primary 57 ENSP00000384202.1:p.Arg951Ter ENST00000404621.5:c.2851C>T 12:g.124363702G>A BAG6_ENST00000375976 ENST00000375976.8 3381 13919 A102-T-S04 2757412 2616002 lung NS NS NS carcinoma adenocarcinoma NS NS n COSV99277231 COSM7412084 114565179 c.2090C>A p.S697* Substitution - Nonsense 38 6:31642249-31642249 - - PATHOGENIC .92565 Confirmed somatic variant 29335443 surgery fresh/frozen primary 73 ENSP00000365143.4:p.Ser697Ter ENST00000375976.8:c.2090C>A 6:g.31642249G>T SELP_ENST00000458599 ENST00000458599.6 1941 10721 TCGA-FZ-5921-01 2340392 2205375 pancreas NS NS NS carcinoma ductal_carcinoma NS NS y COSV55258636 COSM5968967 133374452 c.158G>A p.W53* Substitution - Nonsense 38 1:169617351-169617351 - - PATHOGENIC .98724 Confirmed somatic variant 629 NS primary 85 ENSP00000399368.2:p.Trp53Ter ENST00000458599.6:c.158G>A 1:g.169617351C>T MCF2L_ENST00000375604 ENST00000375604.6 3372 14576 CSCC-19-T 2292467 2158531 skin head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV65051352 COSM4461552 113446970 c.1204C>T p.Q402* Substitution - Nonsense het 38 13:113075091-113075091 + - NEUTRAL .49907 Confirmed somatic variant 25303977 surgery fresh/frozen primary 48 ENSP00000364754.3:p.Gln402Ter ENST00000375604.6:c.1204C>T 13:g.113075091C>T USP44_ENST00000552440 ENST00000552440.5 1491 20064 TCGA-F4-6461-01 1651300 1566087 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS y COSV51567844 COSM3688500 156388722 c.520A>T p.K174* Substitution - Nonsense 38 12:95533737-95533737 - - PATHOGENIC .9829 Confirmed somatic variant 376 NS NS 41 ENSP00000448670.1:p.Lys174Ter ENST00000552440.5:c.520A>T 12:g.95533737T>A USP44_ENST00000552440 ENST00000552440.5 1491 20064 TCGA-CN-4734-01 2193833 2062111 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99312018 COSM8343547 156390784 c.763C>T p.Q255* Substitution - Nonsense 38 12:95533494-95533494 - - PATHOGENIC .80292 Confirmed somatic variant 627 NS NS 70 ENSP00000448670.1:p.Gln255Ter ENST00000552440.5:c.763C>T 12:g.95533494G>A TP73_ENST00000604479 ENST00000604479.5 1623 12003 TCGA-AM-5821-01 1651151 1565938 large_intestine colon sigmoid NS carcinoma adenocarcinoma NS NS y COSV60698746 COSM316092 167371900 c.1078C>T p.R360* Substitution - Nonsense 38 1:3729330-3729330 + - PATHOGENIC .91091 Confirmed somatic variant 376 NS NS 68 ENSP00000474322.1:p.Arg360Ter ENST00000604479.5:c.1078C>T 1:g.3729330C>T ARHGAP18 ENST00000368149.2 1992 21035 Thyroid-CN-WZ048T 2635109 2495505 thyroid NS NS NS carcinoma NS NS NS y COSV63763427 COSM6430611 110352373 c.1834G>T p.E612* Substitution - Nonsense 38 6:129583992-129583992 - - PATHOGENIC .9628 Confirmed somatic variant 676 NS primary 36 ENSP00000357131.2:p.Glu612Ter ENST00000368149.2:c.1834G>T 6:g.129583992C>A USP44_ENST00000552440 ENST00000552440.5 1491 20064 TCGA-AN-A0XW-01 1779445 1683444 breast NS NS NS carcinoma NS NS NS y COSV99311869 COSM7669599 156391046 c.1466C>G p.S489* Substitution - Nonsense 38 12:95524751-95524751 - - PATHOGENIC .86429 Confirmed somatic variant 414 fresh/frozen - NOS primary 36 ENSP00000448670.1:p.Ser489Ter ENST00000552440.5:c.1466C>G 12:g.95524751G>C USP44_ENST00000552440 ENST00000552440.5 1491 20064 TCGA-VQ-A8PY-01 2340118 2205101 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV99311909 COSM8203370 156388543 c.1015G>T p.E339* Substitution - Nonsense 38 12:95533242-95533242 - - PATHOGENIC .97411 Confirmed somatic variant 541 NS primary 47 ENSP00000448670.1:p.Glu339Ter ENST00000552440.5:c.1015G>T 12:g.95533242C>A USP44_ENST00000552440 ENST00000552440.5 1491 20064 PT08_2 2521254 2383598 skin neck NS NS carcinoma basal_cell_carcinoma NS NS y COSV51563450 COSM5893711 156389245 c.49C>T p.Q17* Substitution - Nonsense 38 12:95534208-95534208 - - PATHOGENIC .91682 Confirmed somatic variant 25759019 surgery fresh/frozen recurrent ENSP00000448670.1:p.Gln17Ter ENST00000552440.5:c.49C>T 12:g.95534208G>A TP73_ENST00000604479 ENST00000604479.5 1623 12003 TCGA-BR-A4PE-01 2197892 2066170 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV60704159 COSM4007427 167369684 c.613G>T p.E205* Substitution - Nonsense 38 1:3722204-3722204 + - PATHOGENIC .95064 Confirmed somatic variant 541 NS NS 68 ENSP00000474322.1:p.Glu205Ter ENST00000604479.5:c.613G>T 1:g.3722204G>T TP73_ENST00000604479 ENST00000604479.5 1623 12003 EXTERN_MELA_20140530_004 2839462 2695228 skin ear NS NS malignant_melanoma NS NS NS y COSV104664532 COSM9419796 167377696 c.57G>A p.W19* Substitution - Nonsense 38 1:3682422-3682422 + - PATHOGENIC .97653 Confirmed somatic variant 28467829 surgery fresh/frozen primary ENSP00000474322.1:p.Trp19Ter ENST00000604479.5:c.57G>A 1:g.3682422G>A FLNB_ENST00000295956 ENST00000295956.8 7809 3755 TCGA-AP-A059-01 1783335 1687334 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV55893596 COSM1047752 100478021 c.3321C>A p.Y1107* Substitution - Nonsense het 38 3:58123287-58123287 + - PATHOGENIC .8651 Reported in another cancer sample as somatic 419 fresh/frozen - NOS primary 69 ENSP00000295956.4:p.Tyr1107Ter ENST00000295956.8:c.3321C>A 3:g.58123287C>A TESMIN_ENST00000443940 ENST00000443940.6 756 7446 T2269 2658232 2518391 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV54834030 COSM4703581 128236923 c.520G>T p.E174* Substitution - Nonsense 38 11:68747318-68747318 - - NEUTRAL .46155 Confirmed somatic variant 27149842 NS NS 73 ENSP00000403086.2:p.Glu174Ter ENST00000443940.6:c.520G>T 11:g.68747318C>A TESMIN_ENST00000443940 ENST00000443940.6 756 7446 0185_CRUK_PC_0185_T1_DNA 2634988 2495384 prostate NS NS NS carcinoma adenocarcinoma NS NS y COSV54834015 COSM6220816 128236171 c.691G>T p.E231* Substitution - Nonsense 38 11:68745051-68745051 - - PATHOGENIC .87505 Confirmed somatic variant 538 NS primary 62 ENSP00000403086.2:p.Glu231Ter ENST00000443940.6:c.691G>T 11:g.68745051C>A SELP_ENST00000458599 ENST00000458599.6 1941 10721 T4536 2658589 2518748 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV55250382 COSM6774450 133380137 c.283C>T p.R95* Substitution - Nonsense 38 1:169617226-169617226 - - PATHOGENIC .939 Confirmed somatic variant 27149842 NS NS 72.66 ENSP00000399368.2:p.Arg95Ter ENST00000458599.6:c.283C>T 1:g.169617226G>A ARHGAP18 ENST00000368149.2 1992 21035 TCGA-EE-A2MQ-06 2121687 1995923 skin NS NS NS malignant_melanoma NS NS NS y COSV100936066 COSM7854320 110352741 c.607G>T p.G203* Substitution - Nonsense 38 6:129634051-129634051 - - PATHOGENIC .76266 Confirmed somatic variant 540 NS NS 70 ENSP00000357131.2:p.Gly203Ter ENST00000368149.2:c.607G>T 6:g.129634051C>A TP73_ENST00000604479 ENST00000604479.5 1623 12003 05-092D1 2575062 2436399 prostate NS NS NS carcinoma adenocarcinoma NS NS y COSV60704915 COSM5993061 167372983 c.847C>T p.Q283* Substitution - Nonsense 38 1:3727632-3727632 + - PATHOGENIC .83201 Confirmed somatic variant 26928463 autopsy - NOS primary 81 ENSP00000474322.1:p.Gln283Ter ENST00000604479.5:c.847C>T 1:g.3727632C>T SELP_ENST00000458599 ENST00000458599.6 1941 10721 TCGA-D3-A2JC-06 2121515 1995751 skin NS NS NS malignant_melanoma NS NS NS y COSV99740760 COSM7859974 133377514 c.811G>T p.G271* Substitution - Nonsense 38 1:169612367-169612367 - - PATHOGENIC .91677 Confirmed somatic variant 540 NS NS 53 ENSP00000399368.2:p.Gly271Ter ENST00000458599.6:c.811G>T 1:g.169612367C>A SELP_ENST00000458599 ENST00000458599.6 1941 10721 TCGA-CR-7399-01 2193513 2061791 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99740976 COSM8346021 133378038 c.1410C>A p.Y470* Substitution - Nonsense 38 1:169596064-169596064 - - PATHOGENIC .99733 Confirmed somatic variant 627 NS NS 60 ENSP00000399368.2:p.Tyr470Ter ENST00000458599.6:c.1410C>A 1:g.169596064G>T SELP_ENST00000458599 ENST00000458599.6 1941 10721 HCC12 2120716 1994952 liver NS NS NS carcinoma NS NS NS y COSV55255694 COSM1601214 133375730 c.217A>T p.K73* Substitution - Nonsense 38 1:169617292-169617292 - - PATHOGENIC .84334 Confirmed somatic variant 323 NS NS ENSP00000399368.2:p.Lys73Ter ENST00000458599.6:c.217A>T 1:g.169617292T>A ARHGAP18 ENST00000368149.2 1992 21035 TCGA-CV-7097-01 2193674 2061952 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV100936022 COSM8277927 110357383 c.1864G>T p.G622* Substitution - Nonsense 38 6:129580106-129580106 - - PATHOGENIC .98973 Confirmed somatic variant 627 NS NS 53 ENSP00000357131.2:p.Gly622Ter ENST00000368149.2:c.1864G>T 6:g.129580106C>A ARHGAP18 ENST00000368149.2 1992 21035 W36T 2745058 2603761 thyroid NS NS NS carcinoma NS NS NS y COSV63763427 COSM6430611 110352373 c.1834G>T p.E612* Substitution - Nonsense 38 6:129583992-129583992 - - PATHOGENIC .9628 Confirmed somatic variant 676 NS primary 36 ENSP00000357131.2:p.Glu612Ter ENST00000368149.2:c.1834G>T 6:g.129583992C>A ARHGAP18 ENST00000368149.2 1992 21035 TCGA-AA-3977-01 1651086 1565873 large_intestine colon sigmoid NS carcinoma adenocarcinoma NS NS y COSV63764944 COSM3172723 110355028 c.547G>T p.E183* Substitution - Nonsense 38 6:129638399-129638399 - - PATHOGENIC .92792 Confirmed somatic variant 376 NS NS 65 ENSP00000357131.2:p.Glu183Ter ENST00000368149.2:c.547G>T 6:g.129638399C>A TP73_ENST00000604479 ENST00000604479.5 1623 12003 2474086 2474086 2336855 skin NS NS NS malignant_melanoma NS NS NS n COSV60698467 COSM5880201 167368827 c.484C>T p.Q162* Substitution - Nonsense 38 1:3722075-3722075 + - PATHOGENIC .92698 Confirmed somatic variant 25515853 surgery fresh/frozen metastasis ENSP00000474322.1:p.Gln162Ter ENST00000604479.5:c.484C>T 1:g.3722075C>T TRERF1_ENST00000372917 ENST00000372917.8 2871 18273 TCGA-D1-A167-01 1783503 1687502 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV61677789 COSM1079310 112191175 c.2347C>T p.R783* Substitution - Nonsense 38 6:42232880-42232880 - - PATHOGENIC .8666 Confirmed somatic variant 419 fresh/frozen - NOS primary 70 ENSP00000362008.5:p.Arg783Ter ENST00000372917.8:c.2347C>T 6:g.42232880G>A CDH6 ENST00000265071.2 2373 1765 TCGA-E2-A1B0-01 1900153 1788837 breast NS NS NS carcinoma NS NS NS y COSV54075866 COSM449519 101100053 c.492C>A p.Y164* Substitution - Nonsense 38 5:31294225-31294225 + - PATHOGENIC .92908 Confirmed somatic variant 414 fresh/frozen - NOS primary 50 ENSP00000265071.2:p.Tyr164Ter ENST00000265071.2:c.492C>A 5:g.31294225C>A ARHGAP18 ENST00000368149.2 1992 21035 HCC130 2120732 1994968 liver NS NS NS carcinoma NS NS NS y COSV63765174 COSM1620892 110354886 c.697G>T p.E233* Substitution - Nonsense 38 6:129629442-129629442 - - PATHOGENIC .96605 Confirmed somatic variant 323 NS NS ENSP00000357131.2:p.Glu233Ter ENST00000368149.2:c.697G>T 6:g.129629442C>A USP44_ENST00000552440 ENST00000552440.5 1491 20064 TCGA-19-5956-01 2178192 2046490 central_nervous_system brain NS NS glioma astrocytoma_Grade_IV glioblastoma_multiforme NS y COSV99311938 COSM7469547 156390320 c.892C>T p.R298* Substitution - Nonsense 38 12:95533365-95533365 - - PATHOGENIC .93807 Confirmed somatic variant 329 NS NS 53 ENSP00000448670.1:p.Arg298Ter ENST00000552440.5:c.892C>T 12:g.95533365G>A USP44_ENST00000552440 ENST00000552440.5 1491 20064 ILMN13 2816773 2673124 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS y COSV104384611 COSM9253471 156388940 c.1006G>T p.E336* Substitution - Nonsense 38 12:95533251-95533251 - - PATHOGENIC .96388 Confirmed somatic variant 29937994 surgery fresh/frozen NS 54 ENSP00000448670.1:p.Glu336Ter ENST00000552440.5:c.1006G>T 12:g.95533251C>A USP44_ENST00000552440 ENST00000552440.5 1491 20064 TCGA-EE-A3AC-06 2121694 1995930 skin NS NS NS malignant_melanoma NS NS NS y COSV51562048 COSM3466605 156389744 c.661C>T p.Q221* Substitution - Nonsense 38 12:95533596-95533596 - - NEUTRAL .07606 Confirmed somatic variant 540 NS NS 47 ENSP00000448670.1:p.Gln221Ter ENST00000552440.5:c.661C>T 12:g.95533596G>A TP73_ENST00000604479 ENST00000604479.5 1623 12003 2474085 2474085 2336854 skin NS NS NS malignant_melanoma NS NS NS n COSV60698467 COSM5880201 167368827 c.484C>T p.Q162* Substitution - Nonsense 38 1:3722075-3722075 + - PATHOGENIC .92698 Confirmed somatic variant 25515853 surgery fresh/frozen metastasis ENSP00000474322.1:p.Gln162Ter ENST00000604479.5:c.484C>T 1:g.3722075C>T TP73_ENST00000604479 ENST00000604479.5 1623 12003 ATL013 2488641 2351290 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm adult_T_cell_lymphoma-leukaemia NS NS y COSV60698746 COSM316092 167371900 c.1078C>T p.R360* Substitution - Nonsense 38 1:3729330-3729330 + - PATHOGENIC .91091 Confirmed somatic variant 26437031 NS NS 79 ENSP00000474322.1:p.Arg360Ter ENST00000604479.5:c.1078C>T 1:g.3729330C>T FLNB_ENST00000295956 ENST00000295956.8 7809 3755 TCGA-WE-A8ZO-06 2340344 2205327 skin NS NS NS malignant_melanoma NS NS NS y COSV99914831 COSM8134642 100491237 c.7765G>T p.E2589* Substitution - Nonsense 38 3:58170718-58170718 + - PATHOGENIC .97551 Confirmed somatic variant 540 NS NS 73 ENSP00000295956.4:p.Glu2589Ter ENST00000295956.8:c.7765G>T 3:g.58170718G>T TRERF1_ENST00000372917 ENST00000372917.8 2871 18273 TCGA-A7-A0CE-01 1899653 1788337 breast NS NS NS carcinoma NS NS NS y COSV61670176 COSM451466 112213331 c.1622T>A p.L541* Substitution - Nonsense 38 6:42257085-42257085 - - PATHOGENIC .86383 Confirmed somatic variant 414 fresh/frozen - NOS primary 57 ENSP00000362008.5:p.Leu541Ter ENST00000372917.8:c.1622T>A 6:g.42257085A>T CDH6 ENST00000265071.2 2373 1765 025-0059-01TD 2385304 2248136 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma NS NS y COSV54067384 COSM3615338 101109037 c.1342C>T p.R448* Substitution - Nonsense 38 5:31313406-31313406 + - PATHOGENIC .93937 Confirmed somatic variant 340 blood primary 66 ENSP00000265071.2:p.Arg448Ter ENST00000265071.2:c.1342C>T 5:g.31313406C>T SOHLH2 ENST00000379881.7 1278 26026 TCGA-99-8028-01 1914115 1802397 lung right_upper_lobe NS NS carcinoma adenocarcinoma NS NS y COSV65901841 COSM6139309 113713582 c.760G>T p.E254* Substitution - Nonsense 38 13:36174751-36174751 - - PATHOGENIC .73212 Variant of unknown origin 417 fresh/frozen - NOS primary 50 ENSP00000369210.3:p.Glu254Ter ENST00000379881.7:c.760G>T 13:g.36174751C>A MPP2_ENST00000625880 ENST00000625880.2 1722 7220 TCGA-FI-A2D0-01 2198302 2066580 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV52235759 COSM4753622 170464675 c.1432C>T p.R478* Substitution - Nonsense 38 17:43879388-43879388 - - PATHOGENIC .87628 Confirmed somatic variant 419 NS NS 55 ENSP00000486553.1:p.Arg478Ter ENST00000625880.2:c.1432C>T 17:g.43879388G>A MPP2_ENST00000625880 ENST00000625880.2 1722 7220 TCGA-24-0975-01 1475085 1398784 ovary NS NS NS carcinoma serous_carcinoma NS NS y COSV52239338 COSM117894 170463926 c.1455C>G p.Y485* Substitution - Nonsense het 38 17:43879365-43879365 - - NEUTRAL .35936 Confirmed somatic variant 21720365 331 NS primary 58 ENSP00000486553.1:p.Tyr485Ter ENST00000625880.2:c.1455C>G 17:g.43879365G>C MPP2_ENST00000625880 ENST00000625880.2 1722 7220 TCGA-CQ-A4C9-01 2193702 2061980 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99289854 COSM8338598 170467289 c.781C>T p.R261* Substitution - Nonsense 38 17:43881553-43881553 - - NEUTRAL .08642 Confirmed somatic variant 627 NS NS 56 ENSP00000486553.1:p.Arg261Ter ENST00000625880.2:c.781C>T 17:g.43881553G>A SELP_ENST00000458599 ENST00000458599.6 1941 10721 TCGA-43-2581-01 2195010 2063288 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99741353 COSM8729608 133378735 c.1712C>A p.S571* Substitution - Nonsense 38 1:169594715-169594715 - - PATHOGENIC .91809 Confirmed somatic variant 418 NS NS 47 ENSP00000399368.2:p.Ser571Ter ENST00000458599.6:c.1712C>A 1:g.169594715G>T SELP_ENST00000458599 ENST00000458599.6 1941 10721 PTC-28C 2186085 2054382 thyroid NS NS NS other neoplasm NS NS y COSV55255422 COSM4143019 133379749 c.972T>A p.C324* Substitution - Nonsense 38 1:169609679-169609679 - - NEUTRAL .20487 Confirmed somatic variant 589 NS NS ENSP00000399368.2:p.Cys324Ter ENST00000458599.6:c.972T>A 1:g.169609679A>T USP44_ENST00000552440 ENST00000552440.5 1491 20064 TCGA-BG-A0VX-01 1783442 1687441 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV51566436 COSM944685 156391120 c.187G>T p.E63* Substitution - Nonsense 38 12:95534070-95534070 - - PATHOGENIC .85275 Confirmed somatic variant 419 fresh/frozen - NOS primary 58 ENSP00000448670.1:p.Glu63Ter ENST00000552440.5:c.187G>T 12:g.95534070C>A TP73_ENST00000604479 ENST00000604479.5 1623 12003 94 2748066 2606769 stomach NS NS NS carcinoma NS NS NS y COSV100601544 COSM8604467 167376510 c.190C>T p.Q64* Substitution - Nonsense 38 1:3707552-3707552 + - PATHOGENIC .94073 Confirmed somatic variant 683 NS primary ENSP00000474322.1:p.Gln64Ter ENST00000604479.5:c.190C>T 1:g.3707552C>T TP73_ENST00000604479 ENST00000604479.5 1623 12003 05-123D1 2575073 2436410 prostate NS NS NS carcinoma adenocarcinoma NS NS y COSV60702185 COSM5993063 167372090 c.904C>T p.R302* Substitution - Nonsense 38 1:3727689-3727689 + - PATHOGENIC .87199 Confirmed somatic variant 26928463 autopsy - NOS primary 80 ENSP00000474322.1:p.Arg302Ter ENST00000604479.5:c.904C>T 1:g.3727689C>T TRERF1_ENST00000372917 ENST00000372917.8 2871 18273 Thyroid-CN-WZ040T 2635101 2495497 thyroid NS NS NS carcinoma NS NS NS y COSV61666762 COSM3921790 112196563 c.655C>T p.Q219* Substitution - Nonsense 38 6:42268453-42268453 - - PATHOGENIC .98605 Confirmed somatic variant 676 NS primary 29 ENSP00000362008.5:p.Gln219Ter ENST00000372917.8:c.655C>T 6:g.42268453G>A CDH6 ENST00000265071.2 2373 1765 TCGA-85-8352-01 2195144 2063422 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99421036 COSM8789276 101095122 c.2311G>T p.G771* Substitution - Nonsense 38 5:31323246-31323246 + - PATHOGENIC .97474 Confirmed somatic variant 418 NS NS 67 ENSP00000265071.2:p.Gly771Ter ENST00000265071.2:c.2311G>T 5:g.31323246G>T CDH6 ENST00000265071.2 2373 1765 Mx22 1235042 1146828 large_intestine NS NS NS carcinoma adenocarcinoma NS NS n COSV54073494 COSM33372 101107191 c.1918C>T p.R640* Substitution - Nonsense het 38 5:31322853-31322853 + - PATHOGENIC .81719 Confirmed somatic variant 16959974 xenograft metastasis 66 ENSP00000265071.2:p.Arg640Ter ENST00000265071.2:c.1918C>T 5:g.31322853C>T NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 CHG-46T 2634267 2494663 liver NS NS NS other neoplasm NS NS y COSV62304553 COSM6240127 119144795 c.574A>T p.K192* Substitution - Nonsense 38 12:124472969-124472969 - - PATHOGENIC .99132 Confirmed somatic variant 660 NS primary 49 ENSP00000384202.1:p.Lys192Ter ENST00000404621.5:c.574A>T 12:g.124472969T>A SOHLH2 ENST00000379881.7 1278 26026 TCGA-AX-A0J1-01 1783377 1687376 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV65903918 COSM947115 113714548 c.1269G>A p.W423* Substitution - Nonsense het 38 13:36169043-36169043 - - PATHOGENIC .80284 Variant of unknown origin 419 fresh/frozen - NOS primary 80 ENSP00000369210.3:p.Trp423Ter ENST00000379881.7:c.1269G>A 13:g.36169043C>T BCL2L15_ENST00000393320 ENST00000393320.3 171 33624 TCGA-AB-2857-03 1650349 1565136 haematopoietic_and_lymphoid_tissue NS NS NS haematopoietic_neoplasm acute_myeloid_leukaemia NS NS y COSV100851576 COSN30144607 118431935 c.153G>A p.W51* Substitution - Nonsense 38 1:113881115-113881115 - - NEUTRAL .05911 Confirmed somatic variant 377 blood-bone marrow NS 54 ENSP00000376995.3:p.Trp51Ter ENST00000393320.3:c.153G>A 1:g.113881115C>T BCL2L15_ENST00000393320 ENST00000393320.3 171 33624 TCGA-EE-A181-06 2121622 1995858 skin NS NS NS malignant_melanoma NS NS NS y COSV100851587 COSM7937911 118431793 c.136G>T p.G46* Substitution - Nonsense 38 1:113881132-113881132 - - PATHOGENIC .84782 Confirmed somatic variant 540 NS NS 82 ENSP00000376995.3:p.Gly46Ter ENST00000393320.3:c.136G>T 1:g.113881132C>A SELP_ENST00000458599 ENST00000458599.6 1941 10721 5-VS018-T1 2869839 2724836 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV105049715 COSM9648730 133377792 c.935_936delinsAA p.W312* Substitution - Nonsense 38 1:169612242-169612243 - - Confirmed somatic variant 26950094 surgery fresh/frozen NS 80 ENSP00000399368.2:p.Trp312Ter ENST00000458599.6:c.935_936delinsAA 1:g.169612242_169612243delinsTT ARHGAP18 ENST00000368149.2 1992 21035 TCGA-21-5786-01 1780674 1684673 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV63765207 COSM740201 110358567 c.1091T>G p.L364* Substitution - Nonsense 38 6:129611564-129611564 - - PATHOGENIC .99436 Confirmed somatic variant 418 fresh/frozen - NOS primary 64 ENSP00000357131.2:p.Leu364Ter ENST00000368149.2:c.1091T>G 6:g.129611564A>C ARHGAP18 ENST00000368149.2 1992 21035 ILMN13 2816773 2673124 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS y COSV104426854 COSM9251586 110354744 c.1081G>T p.E361* Substitution - Nonsense 38 6:129611574-129611574 - - PATHOGENIC .99238 Confirmed somatic variant 29937994 surgery fresh/frozen NS 54 ENSP00000357131.2:p.Glu361Ter ENST00000368149.2:c.1081G>T 6:g.129611574C>A USP44_ENST00000552440 ENST00000552440.5 1491 20064 pfg043T 2309624 2174826 stomach NS NS NS carcinoma intestinal_adenocarcinoma NS NS y COSV51563360 COSM4759027 156387976 c.631A>T p.R211* Substitution - Nonsense het 38 12:95533626-95533626 - - PATHOGENIC .94341 Confirmed somatic variant 24816253 surgery fresh/frozen NS 76 ENSP00000448670.1:p.Arg211Ter ENST00000552440.5:c.631A>T 12:g.95533626T>A TP73_ENST00000604479 ENST00000604479.5 1623 12003 TCGA-EA-A5FO-01 2193388 2061666 cervix NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV60705592 COSM4851864 167375866 c.367G>T p.G123* Substitution - Nonsense 38 1:3707729-3707729 + - PATHOGENIC .9479 Confirmed somatic variant 415 NS NS 59 ENSP00000474322.1:p.Gly123Ter ENST00000604479.5:c.367G>T 1:g.3707729G>T CDH6 ENST00000265071.2 2373 1765 TCGA-BR-8368-01 2197953 2066231 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV54073851 COSM3854654 101110186 c.597C>A p.Y199* Substitution - Nonsense 38 5:31297362-31297362 + - PATHOGENIC .93196 Confirmed somatic variant 541 NS NS 84 ENSP00000265071.2:p.Tyr199Ter ENST00000265071.2:c.597C>A 5:g.31297362C>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 2492721 2492721 2355336 skin NS NS NS malignant_melanoma NS NS NS y COSV62295574 COSM5722080 119152502 c.2893G>T p.E965* Substitution - Nonsense 38 12:124362279-124362279 - - PATHOGENIC .93284 Confirmed somatic variant 26286987 surgery fresh/frozen metastasis ENSP00000384202.1:p.Glu965Ter ENST00000404621.5:c.2893G>T 12:g.124362279C>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 CRC-31T 2456796 2319633 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV62301112 COSM5457805 119146991 c.5155C>T p.R1719* Substitution - Nonsense 38 12:124341826-124341826 - - PATHOGENIC .82699 Confirmed somatic variant 646 NS primary 48 ENSP00000384202.1:p.Arg1719Ter ENST00000404621.5:c.5155C>T 12:g.124341826G>A SOHLH2 ENST00000379881.7 1278 26026 TCGA-AX-A0J0-01 1783376 1687375 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV58522210 COSM947124 113716926 c.460G>T p.E154* Substitution - Nonsense het 38 13:36191865-36191865 - - NEUTRAL .06104 Reported in another cancer sample as somatic 419 fresh/frozen - NOS primary 47 ENSP00000369210.3:p.Glu154Ter ENST00000379881.7:c.460G>T 13:g.36191865C>A MPP2_ENST00000625880 ENST00000625880.2 1722 7220 TCGA-EM-A22J-01 2122033 1996269 thyroid NS NS NS carcinoma NS NS NS y COSV99290780 COSM8228366 170468526 c.229G>T p.E77* Substitution - Nonsense 38 17:43883340-43883340 - - PATHOGENIC .98774 Confirmed somatic variant 542 NS NS 56 ENSP00000486553.1:p.Glu77Ter ENST00000625880.2:c.229G>T 17:g.43883340C>A SELP_ENST00000458599 ENST00000458599.6 1941 10721 TCGA-B5-A0JY-01 1783388 1687387 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV55249740 COSM899317 133375044 c.893T>G p.L298* Substitution - Nonsense 38 1:169612285-169612285 - - NEUTRAL .35758 Confirmed somatic variant 419 fresh/frozen - NOS primary 50 ENSP00000399368.2:p.Leu298Ter ENST00000458599.6:c.893T>G 1:g.169612285A>C MCF2L_ENST00000375604 ENST00000375604.6 3372 14576 BD111T 2459736 2322573 biliary_tract bile_duct NS NS carcinoma NS NS NS y COSV65050538 COSM5520808 113436563 c.1774G>T p.E592* Substitution - Nonsense 38 13:113078711-113078711 + - PATHOGENIC .98879 Confirmed somatic variant 658 NS primary 69 ENSP00000364754.3:p.Glu592Ter ENST00000375604.6:c.1774G>T 13:g.113078711G>T ARHGAP18 ENST00000368149.2 1992 21035 TCGA-FS-A1ZJ-06 2121761 1995997 skin NS NS NS malignant_melanoma NS NS NS y COSV100935996 COSM7877736 110357786 c.1102G>T p.G368* Substitution - Nonsense 38 6:129611553-129611553 - - PATHOGENIC .99238 Confirmed somatic variant 540 NS NS 75 ENSP00000357131.2:p.Gly368Ter ENST00000368149.2:c.1102G>T 6:g.129611553C>A USP44_ENST00000552440 ENST00000552440.5 1491 20064 HCC2998 1998441 1883513 large_intestine colon NS NS carcinoma adenocarcinoma NS NS y COSV51562935 COSM1677255 156387852 c.790C>T p.R264* Substitution - Nonsense het 38 12:95533467-95533467 - - PATHOGENIC .91256 Confirmed somatic variant 23856246 cell-line primary ENSP00000448670.1:p.Arg264Ter ENST00000552440.5:c.790C>T 12:g.95533467G>A USP44_ENST00000552440 ENST00000552440.5 1491 20064 PT08_1 2521253 2383598 skin neck NS NS carcinoma basal_cell_carcinoma NS NS y COSV51563450 COSM5893711 156389245 c.49C>T p.Q17* Substitution - Nonsense 38 12:95534208-95534208 - - PATHOGENIC .91682 Confirmed somatic variant 25759019 surgery fresh/frozen recurrent ENSP00000448670.1:p.Gln17Ter ENST00000552440.5:c.49C>T 12:g.95534208G>A TP73_ENST00000604479 ENST00000604479.5 1623 12003 TCGA-SS-A7HO-01 2457452 2320289 large_intestine colon NS NS carcinoma adenocarcinoma NS NS y COSV60704915 COSM5993061 167372983 c.847C>T p.Q283* Substitution - Nonsense 38 1:3727632-3727632 + - PATHOGENIC .83201 Confirmed somatic variant 376 NS primary 44 ENSP00000474322.1:p.Gln283Ter ENST00000604479.5:c.847C>T 1:g.3727632C>T TP73_ENST00000604479 ENST00000604479.5 1623 12003 CHG-13-08087T 2634306 2494702 liver NS NS NS other neoplasm NS NS y COSV60705264 COSM7313714 167372340 c.949G>T p.E317* Substitution - Nonsense 38 1:3727734-3727734 + - PATHOGENIC .97593 Confirmed somatic variant 660 NS primary 46 ENSP00000474322.1:p.Glu317Ter ENST00000604479.5:c.949G>T 1:g.3727734G>T FLNB_ENST00000295956 ENST00000295956.8 7809 3755 TCGA-AP-A1E1-01 2198445 2066723 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV55893596 COSM1047752 100478021 c.3321C>A p.Y1107* Substitution - Nonsense 38 3:58123287-58123287 + - PATHOGENIC .8651 Confirmed somatic variant 419 NS NS 74 ENSP00000295956.4:p.Tyr1107Ter ENST00000295956.8:c.3321C>A 3:g.58123287C>A FLNB_ENST00000295956 ENST00000295956.8 7809 3755 TCGA-ER-A196-01 2121708 1995944 skin NS NS NS malignant_melanoma NS NS NS y COSV99912284 COSM8048253 100488004 c.4481C>A p.S1494* Substitution - Nonsense 38 3:58132898-58132898 + - PATHOGENIC .8348 Confirmed somatic variant 540 NS NS 64 ENSP00000295956.4:p.Ser1494Ter ENST00000295956.8:c.4481C>A 3:g.58132898C>A CDH6 ENST00000265071.2 2373 1765 s_DS_scb_014_P2_s_SCB_14T2 2861583 2716819 urinary_tract bladder NS NS carcinoma small_cell_carcinoma NS NS y COSV105001387 COSM9575161 101112684 c.236C>G p.S79* Substitution - Nonsense 38 5:31293969-31293969 + - PATHOGENIC .99253 Confirmed somatic variant 29180607 surgery fresh/frozen NS 69 ENSP00000265071.2:p.Ser79Ter ENST00000265071.2:c.236C>G 5:g.31293969C>G CDH6 ENST00000265071.2 2373 1765 3T27 2745722 2604425 oesophagus NS NS NS carcinoma NS NS NS y COSV54063694 COSM1436985 101096328 c.2065C>T p.R689* Substitution - Nonsense 38 5:31323000-31323000 + - PATHOGENIC .83309 Confirmed somatic variant 582 NS primary 48 ENSP00000265071.2:p.Arg689Ter ENST00000265071.2:c.2065C>T 5:g.31323000C>T NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 TCGA-AP-A1DH-01 2198350 2066628 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV100657456 COSM8993486 119148982 c.1899G>A p.W633* Substitution - Nonsense 38 12:124385862-124385862 - - PATHOGENIC .96605 Confirmed somatic variant 419 NS NS 62 ENSP00000384202.1:p.Trp633Ter ENST00000404621.5:c.1899G>A 12:g.124385862C>T NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 TCGA-D6-6516-01 2193831 2062109 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV100657439 COSM8385259 119148900 c.6298C>T p.Q2100* Substitution - Nonsense 38 12:124335218-124335218 - - PATHOGENIC .9585 Confirmed somatic variant 627 NS NS 69 ENSP00000384202.1:p.Gln2100Ter ENST00000404621.5:c.6298C>T 12:g.124335218G>A SOHLH2 ENST00000379881.7 1278 26026 TCGA-BG-A221-01 2198482 2066760 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV101157810 COSM8868411 113716129 c.1147C>T p.Q383* Substitution - Nonsense 38 13:36170641-36170641 - - PATHOGENIC .73814 Confirmed somatic variant 419 NS NS 84 ENSP00000369210.3:p.Gln383Ter ENST00000379881.7:c.1147C>T 13:g.36170641G>A BCL2L15_ENST00000393320 ENST00000393320.3 171 33624 CSB28 2373557 2236350 breast NS NS NS carcinoma luminal_NS_carcinoma NS NS n COSV63642999 COSN17182411 118431436 c.163C>T p.R55* Substitution - Nonsense 38 1:113881105-113881105 - - NEUTRAL .07873 Confirmed somatic variant 22722193 NS NS ENSP00000376995.3:p.Arg55Ter ENST00000393320.3:c.163C>T 1:g.113881105G>A BCL2L15_ENST00000393320 ENST00000393320.3 171 33624 TCGA-AJ-A3EL-01 2198271 2066549 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV100851601 COSM8988031 118431418 c.105C>A p.C35* Substitution - Nonsense 38 1:113887271-113887271 - - NEUTRAL .03509 Confirmed somatic variant 419 NS NS 47 ENSP00000376995.3:p.Cys35Ter ENST00000393320.3:c.105C>A 1:g.113887271G>T SELP_ENST00000458599 ENST00000458599.6 1941 10721 YUDIALE 2013601 1896233 skin NS NS NS malignant_melanoma NS NS NS y COSV55250055 COSM1499324 133378850 c.847C>T p.Q283* Substitution - Nonsense het 38 1:169612331-169612331 - - NEUTRAL .07717 Confirmed somatic variant 22842228 NS NS ENSP00000399368.2:p.Gln283Ter ENST00000458599.6:c.847C>T 1:g.169612331G>A ARHGAP18 ENST00000368149.2 1992 21035 3N05-VS-3T05 2363583 2226510 oesophagus NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV63763443 COSM4978810 110354218 c.413C>A p.S138* Substitution - Nonsense 38 6:129638533-129638533 - - PATHOGENIC .93763 Confirmed somatic variant 25839328 NS NS 54 ENSP00000357131.2:p.Ser138Ter ENST00000368149.2:c.413C>A 6:g.129638533G>T TP73_ENST00000604479 ENST00000604479.5 1623 12003 TCGA-B0-4814-01 2120423 1994659 kidney NS NS NS carcinoma clear_cell_renal_cell_carcinoma NS NS y COSV60701344 COSM3360876 167376321 c.397C>T p.Q133* Substitution - Nonsense 38 1:3707759-3707759 + - PATHOGENIC .91183 Confirmed somatic variant 416 NS NS 58 ENSP00000474322.1:p.Gln133Ter ENST00000604479.5:c.397C>T 1:g.3707759C>T NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 SCLC3_R_LN 2806470 2663189 lung NS NS NS carcinoma small_cell_carcinoma NS NS y COSV100657146 COSM7432470 119168779 c.2491G>T p.E831* Substitution - Nonsense 38 12:124372284-124372284 - - .63438 Confirmed somatic variant 30224629 surgery - NOS metastasis 65 ENSP00000384202.1:p.Glu831Ter ENST00000404621.5:c.2491G>T 12:g.124372284C>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 CHG-13-09089T 2634309 2494705 liver NS NS NS other neoplasm NS NS y COSV62306540 COSM6294389 119163429 c.4347C>A p.Y1449* Substitution - Nonsense 38 12:124344934-124344934 - - PATHOGENIC .88203 Confirmed somatic variant 660 NS primary 67 ENSP00000384202.1:p.Tyr1449Ter ENST00000404621.5:c.4347C>A 12:g.124344934G>T NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 W11T 2745045 2603748 thyroid NS NS NS carcinoma NS NS NS y COSV62297116 COSM6384108 119146600 c.5815C>T p.R1939* Substitution - Nonsense 38 12:124337023-124337023 - - PATHOGENIC .92449 Confirmed somatic variant 676 NS primary 30 ENSP00000384202.1:p.Arg1939Ter ENST00000404621.5:c.5815C>T 12:g.124337023G>A MPP2_ENST00000625880 ENST00000625880.2 1722 7220 382 2267354 2134122 oesophagus middle_third NS NS carcinoma squamous_cell_carcinoma NS NS y COSV52237395 COSM4426598 170465376 c.232G>T p.E78* Substitution - Nonsense 38 17:43883337-43883337 - - PATHOGENIC .98774 Confirmed somatic variant 25151357 surgery fresh/frozen primary 59 ENSP00000486553.1:p.Glu78Ter ENST00000625880.2:c.232G>T 17:g.43883337C>A ARHGAP18 ENST00000368149.2 1992 21035 IGC-04-1186 2662314 2522438 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV63765789 COSM6514383 110352528 c.373G>T p.E125* Substitution - Nonsense 38 6:129638573-129638573 - - PATHOGENIC .91427 Confirmed somatic variant 27923066 surgery fresh/frozen primary ENSP00000357131.2:p.Glu125Ter ENST00000368149.2:c.373G>T 6:g.129638573C>A TP73_ENST00000604479 ENST00000604479.5 1623 12003 ESCC_BICR_041T 2456896 2319733 oesophagus NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV60699868 COSM5441226 167371522 c.290C>A p.S97* Substitution - Nonsense 38 1:3707652-3707652 + - PATHOGENIC .84509 Confirmed somatic variant 582 NS primary 73 ENSP00000474322.1:p.Ser97Ter ENST00000604479.5:c.290C>A 1:g.3707652C>A FLNB_ENST00000295956 ENST00000295956.8 7809 3755 PT45 2521302 2383645 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV55879589 COSM5927287 100486782 c.1189C>T p.Q397* Substitution - Nonsense 38 3:58098752-58098752 + - PATHOGENIC .89108 Confirmed somatic variant 25759019 surgery fresh/frozen NS ENSP00000295956.4:p.Gln397Ter ENST00000295956.8:c.1189C>T 3:g.58098752C>T FLNB_ENST00000295956 ENST00000295956.8 7809 3755 EXTERN_MELA_20140924_076 2839389 2695155 skin scalp NS NS malignant_melanoma NS NS NS y COSV104607376 COSM9434068 100484207 c.1243C>T p.R415* Substitution - Nonsense 38 3:58098806-58098806 + - PATHOGENIC .95033 Confirmed somatic variant 28467829 surgery fresh/frozen primary ENSP00000295956.4:p.Arg415Ter ENST00000295956.8:c.1243C>T 3:g.58098806C>T TRERF1_ENST00000372917 ENST00000372917.8 2871 18273 T306 2658385 2518544 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV61675428 COSM3079068 112202594 c.2569C>T p.R857* Substitution - Nonsense 38 6:42228647-42228647 - - PATHOGENIC .95443 Confirmed somatic variant 27149842 NS NS 71.33 ENSP00000362008.5:p.Arg857Ter ENST00000372917.8:c.2569C>T 6:g.42228647G>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 2_RESISTANT 2062380 1942459 NS NS NS NS malignant_melanoma NS NS NS y COSV62298184 COSM1722326 119153083 c.3117G>A p.W1039* Substitution - Nonsense hom 38 12:124356736-124356736 - - PATHOGENIC .91978 Confirmed somatic variant 24265154 surgery - NOS NS ENSP00000384202.1:p.Trp1039Ter ENST00000404621.5:c.3117G>A 12:g.124356736C>T NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 TCGA-43-A475-01 2195035 2063313 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV100657450 COSM8796472 119147893 c.2620A>T p.K874* Substitution - Nonsense 38 12:124372155-124372155 - - PATHOGENIC .82509 Confirmed somatic variant 418 NS NS 67 ENSP00000384202.1:p.Lys874Ter ENST00000404621.5:c.2620A>T 12:g.124372155T>A SOHLH2 ENST00000379881.7 1278 26026 TCGA-AZ-6598-01 1651172 1565959 large_intestine caecum NS NS carcinoma adenocarcinoma NS NS y COSV101157993 COSM7577649 113712049 c.660C>A p.C220* Substitution - Nonsense 38 13:36174851-36174851 - - PATHOGENIC .81681 Confirmed somatic variant 376 NS NS 77 ENSP00000369210.3:p.Cys220Ter ENST00000379881.7:c.660C>A 13:g.36174851G>T SOHLH2 ENST00000379881.7 1278 26026 T341 2658331 2518490 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV65901548 COSM6786964 113712564 c.1172C>A p.S391* Substitution - Nonsense 38 13:36170616-36170616 - - .64486 Confirmed somatic variant 27149842 NS NS 66.58 ENSP00000369210.3:p.Ser391Ter ENST00000379881.7:c.1172C>A 13:g.36170616G>T MPP2_ENST00000625880 ENST00000625880.2 1722 7220 TCGA-49-AAR9-01 2385663 2248495 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV99289836 COSM7728616 170467954 c.505G>T p.G169* Substitution - Nonsense 38 17:43882914-43882914 - - PATHOGENIC .99595 Confirmed somatic variant 417 NS primary 61 ENSP00000486553.1:p.Gly169Ter ENST00000625880.2:c.505G>T 17:g.43882914C>A UTY_ENST00000382893 ENST00000382893.2 624 12638 TCGA-E7-A7XN-01 2339199 2204182 urinary_tract bladder NS NS carcinoma NS NS NS y COSV100229803 COSM7635760 117929373 c.320C>G p.S107* Substitution - Nonsense 38 24:13470126-13470126 - - .53264 Confirmed somatic variant 413 NS primary 66 ENSP00000372349.1:p.Ser107Ter ENST00000382893.2:c.320C>G Y:g.13470126G>C SELP_ENST00000458599 ENST00000458599.6 1941 10721 PD42095c 2894834 2749322 skin extremity NS NS malignant_melanoma in_situ_melanotic_neoplasm NS NS y COSV105049683 COSM9890680 133375837 c.749G>A p.W250* Substitution - Nonsense 38 1:169612955-169612955 - - PATHOGENIC .99516 Confirmed somatic variant 33024263 surgery-fixed metastasis 56 ENSP00000399368.2:p.Trp250Ter ENST00000458599.6:c.749G>A 1:g.169612955C>T GSTO2 ENST00000338595.6 732 23064 H3255 2776279 2634415 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV58539290 COSM2060415 103495007 c.226G>T p.E76* Substitution - Nonsense 38 10:104277976-104277976 + - PATHOGENIC .93133 Variant of unknown origin 29681454 NS NS 47 ENSP00000345023.1:p.Glu76Ter ENST00000338595.6:c.226G>T 10:g.104277976G>T GSTO2 ENST00000338595.6 732 23064 TCGA-78-7146-01 1914053 1802335 lung right_lower_lobe NS NS carcinoma adenocarcinoma NS NS y COSV58537855 COSM1345663 103495607 c.448G>T p.E150* Substitution - Nonsense 38 10:104279451-104279451 + - PATHOGENIC .85925 Reported in another cancer sample as somatic 417 fresh/frozen - NOS primary 71 ENSP00000345023.1:p.Glu150Ter ENST00000338595.6:c.448G>T 10:g.104279451G>T ARHGAP18 ENST00000368149.2 1992 21035 5-VS034-T1 2869858 2724855 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV105295929 COSM9743270 110354022 c.286C>T p.Q96* Substitution - Nonsense 38 6:129641846-129641846 - - PATHOGENIC .97273 Confirmed somatic variant 26950094 surgery fresh/frozen NS 75 ENSP00000357131.2:p.Gln96Ter ENST00000368149.2:c.286C>T 6:g.129641846G>A PRTFDC1_ENST00000376378 ENST00000376378.5 573 23333 H1648 2776240 2634376 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV60772983 COSM2133660 115854853 c.389C>A p.S130* Substitution - Nonsense 38 10:24872014-24872014 - - PATHOGENIC .89676 Variant of unknown origin 29681454 NS NS 39 ENSP00000365558.1:p.Ser130Ter ENST00000376378.5:c.389C>A 10:g.24872014G>T CDH6 ENST00000265071.2 2373 1765 WGC003488 2785132 2645248 biliary_tract bile_duct NS NS carcinoma adenocarcinoma NS NS y COSV54075499 COSM5594382 101098685 c.379C>T p.R127* Substitution - Nonsense 38 5:31294112-31294112 + - PATHOGENIC .90978 Confirmed somatic variant 25526346 surgery fresh/frozen primary 73 ENSP00000265071.2:p.Arg127Ter ENST00000265071.2:c.379C>T 5:g.31294112C>T NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 Thyroid-CN-WZ035T 2635096 2495492 thyroid NS NS NS carcinoma NS NS NS y COSV62297116 COSM6384108 119146600 c.5815C>T p.R1939* Substitution - Nonsense 38 12:124337023-124337023 - - PATHOGENIC .92449 Confirmed somatic variant 676 NS primary 30 ENSP00000384202.1:p.Arg1939Ter ENST00000404621.5:c.5815C>T 12:g.124337023G>A GSTO2 ENST00000338595.6 732 23064 TCGA-DK-AA71-01 2385752 2248584 urinary_tract bladder NS NS carcinoma NS NS NS y COSV100086533 COSM7639123 103494956 c.694C>T p.Q232* Substitution - Nonsense 38 10:104299246-104299246 + - .52779 Confirmed somatic variant 413 NS primary 71 ENSP00000345023.1:p.Gln232Ter ENST00000338595.6:c.694C>T 10:g.104299246C>T GSTO2 ENST00000338595.6 732 23064 H_QD-WAPAT079-V0DHRD 2842929 2698383 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm plasma_cell_myeloma NS NS n COSV100086508 COSM8857664 103494945 c.295G>T p.G99* Substitution - Nonsense 38 10:104278045-104278045 + - PATHOGENIC .95693 Confirmed somatic variant 29563506 blood-bone marrow NS ENSP00000345023.1:p.Gly99Ter ENST00000338595.6:c.295G>T 10:g.104278045G>T ARHGAP18 ENST00000368149.2 1992 21035 PT33 2521290 2383633 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV63766336 COSM5908594 110352434 c.1968G>A p.W656* Substitution - Nonsense 38 6:129578537-129578537 - - PATHOGENIC .98512 Confirmed somatic variant 25759019 surgery fresh/frozen NS ENSP00000357131.2:p.Trp656Ter ENST00000368149.2:c.1968G>A 6:g.129578537C>T KCNE3_ENST00000525550 ENST00000525550.1 312 6243 TCGA-B1-A656-01 2262950 2129934 kidney NS NS NS carcinoma papillary_renal_cell_carcinoma NS NS y COSV59552782 COSM4413997 147871867 c.259A>T p.K87* Substitution - Nonsense 38 11:74457305-74457305 - - PATHOGENIC .91364 Confirmed somatic variant 543 NS primary 64 ENSP00000433633.1:p.Lys87Ter ENST00000525550.1:c.259A>T 11:g.74457305T>A FLNB_ENST00000295956 ENST00000295956.8 7809 3755 T2269 2296107 2161710 large_intestine colon descending NS carcinoma adenocarcinoma NS NS y COSV55887760 COSM4684965 100485505 c.5593G>T p.E1865* Substitution - Nonsense 38 3:58146858-58146858 + - PATHOGENIC .97765 Confirmed somatic variant 25344691 NS NS 73 ENSP00000295956.4:p.Glu1865Ter ENST00000295956.8:c.5593G>T 3:g.58146858G>T TRERF1_ENST00000372917 ENST00000372917.8 2871 18273 TCGA-FW-A3R5-06 2185962 2054259 skin NS NS NS malignant_melanoma NS NS NS y COSV61666762 COSM3921790 112196563 c.655C>T p.Q219* Substitution - Nonsense 38 6:42268453-42268453 - - PATHOGENIC .98605 Confirmed somatic variant 540 NS NS 68 ENSP00000362008.5:p.Gln219Ter ENST00000372917.8:c.655C>T 6:g.42268453G>A CDH6 ENST00000265071.2 2373 1765 T189255 2658275 2518434 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV54079560 COSM6625114 101101401 c.799C>T p.R267* Substitution - Nonsense 38 5:31299619-31299619 + - PATHOGENIC .95238 Confirmed somatic variant 27149842 NS NS 77.16 ENSP00000265071.2:p.Arg267Ter ENST00000265071.2:c.799C>T 5:g.31299619C>T NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 TCGA-CR-7379-01 2193571 2061849 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV100658033 COSM8280192 119145571 c.2098G>T p.E700* Substitution - Nonsense 38 12:124378303-124378303 - - PATHOGENIC .96854 Confirmed somatic variant 627 NS NS 78 ENSP00000384202.1:p.Glu700Ter ENST00000404621.5:c.2098G>T 12:g.124378303C>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 DCG_04 2664382 2524436 central_nervous_system cerebellum NS NS glioma astrocytoma_Grade_IV glioblastoma_multiforme NS y COSV62303131 COSM6838431 119145150 c.3481C>T p.Q1161* Substitution - Nonsense 38 12:124354556-124354556 - - PATHOGENIC .95034 Confirmed somatic variant 28852847 surgery fresh/frozen NS 40 ENSP00000384202.1:p.Gln1161Ter ENST00000404621.5:c.3481C>T 12:g.124354556G>A MPP2_ENST00000625880 ENST00000625880.2 1722 7220 TCGA-49-AAR4-01 2385662 2248494 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV99290703 COSM7761088 170464483 c.1147G>T p.G383* Substitution - Nonsense 38 17:43880757-43880757 - - PATHOGENIC .91367 Confirmed somatic variant 417 NS primary 51 ENSP00000486553.1:p.Gly383Ter ENST00000625880.2:c.1147G>T 17:g.43880757C>A GNPNAT1 ENST00000216410.7 555 19980 TCGA-BS-A0UF-01 1783473 1687472 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV53590847 COSM956259 98188162 c.46G>T p.E16* Substitution - Nonsense het 38 14:52784605-52784605 - - PATHOGENIC .99047 Variant of unknown origin 419 fresh/frozen - NOS primary 65 ENSP00000216410.3:p.Glu16Ter ENST00000216410.7:c.46G>T 14:g.52784605C>A GSTO2 ENST00000338595.6 732 23064 H_QD-WAPAT052-V0DHPV 2842902 2698356 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm plasma_cell_myeloma NS NS n COSV58538983 COSM1209148 103495180 c.253G>T p.E85* Substitution - Nonsense 38 10:104278003-104278003 + - PATHOGENIC .96466 Confirmed somatic variant 29563506 blood-bone marrow NS ENSP00000345023.1:p.Glu85Ter ENST00000338595.6:c.253G>T 10:g.104278003G>T GSTO2 ENST00000338595.6 732 23064 TCGA-CA-6718-01 1651189 1565976 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS y COSV58537855 COSM1345663 103495607 c.448G>T p.E150* Substitution - Nonsense 38 10:104279451-104279451 + - PATHOGENIC .85925 Confirmed somatic variant 376 NS NS 46 ENSP00000345023.1:p.Glu150Ter ENST00000338595.6:c.448G>T 10:g.104279451G>T GSTO2 ENST00000338595.6 732 23064 TCGA-21-5783-01 2195215 2063493 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV100086699 COSM7831119 103495829 c.609G>A p.W203* Substitution - Nonsense 38 10:104299161-104299161 + - PATHOGENIC .7647 Confirmed somatic variant 418 NS NS 76 ENSP00000345023.1:p.Trp203Ter ENST00000338595.6:c.609G>A 10:g.104299161G>A ARHGAP18 ENST00000368149.2 1992 21035 T546 2658248 2518407 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV63765292 COSM6603101 110358477 c.187C>T p.R63* Substitution - Nonsense 38 6:129641945-129641945 - - PATHOGENIC .9307 Confirmed somatic variant 27149842 NS NS 69.91 ENSP00000357131.2:p.Arg63Ter ENST00000368149.2:c.187C>T 6:g.129641945G>A PRTFDC1_ENST00000376378 ENST00000376378.5 573 23333 TCGA-VS-A9UC-01 2386198 2249030 cervix NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV100196778 COSM8644261 115855029 c.287C>G p.S96* Substitution - Nonsense 38 10:24937236-24937236 - - PATHOGENIC .971 Confirmed somatic variant 415 NS primary 32 ENSP00000365558.1:p.Ser96Ter ENST00000376378.5:c.287C>G 10:g.24937236G>C CDH6 ENST00000265071.2 2373 1765 TCGA-P3-A6T4-01 2193686 2061964 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99420626 COSM8306134 101100855 c.2317C>T p.R773* Substitution - Nonsense 38 5:31323252-31323252 + - PATHOGENIC .96535 Confirmed somatic variant 627 NS NS 54 ENSP00000265071.2:p.Arg773Ter ENST00000265071.2:c.2317C>T 5:g.31323252C>T CDH6 ENST00000265071.2 2373 1765 TCGA-D3-A8GM-06 2263571 2130555 skin NS NS NS malignant_melanoma NS NS NS y COSV99418455 COSM8142903 101112167 c.385C>T p.Q129* Substitution - Nonsense 38 5:31294118-31294118 + - PATHOGENIC .95731 Confirmed somatic variant 540 NS NS 73 ENSP00000265071.2:p.Gln129Ter ENST00000265071.2:c.385C>T 5:g.31294118C>T NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 2492722 2492722 2355337 skin NS NS NS malignant_melanoma NS NS NS y COSV62295574 COSM5722080 119152502 c.2893G>T p.E965* Substitution - Nonsense 38 12:124362279-124362279 - - PATHOGENIC .93284 Confirmed somatic variant 26286987 surgery fresh/frozen metastasis ENSP00000384202.1:p.Glu965Ter ENST00000404621.5:c.2893G>T 12:g.124362279C>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 LICA-CN-HCC016T 2634063 2494459 liver NS NS NS other neoplasm NS NS y COSV62295126 COSM5811683 119157296 c.2905G>T p.E969* Substitution - Nonsense 38 12:124362267-124362267 - - PATHOGENIC .96679 Confirmed somatic variant 660 NS primary 35 ENSP00000384202.1:p.Glu969Ter ENST00000404621.5:c.2905G>T 12:g.124362267C>A SOHLH2 ENST00000379881.7 1278 26026 BD93T 2459958 2322795 biliary_tract bile_duct NS NS carcinoma NS NS NS y COSV58520622 COSM5514091 113713438 c.502G>T p.G168* Substitution - Nonsense 38 13:36191823-36191823 - - NEUTRAL .03952 Confirmed somatic variant 658 NS primary 69 ENSP00000369210.3:p.Gly168Ter ENST00000379881.7:c.502G>T 13:g.36191823C>A FLNB_ENST00000295956 ENST00000295956.8 7809 3755 T311 2658497 2518656 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV55873079 COSM6664948 100477598 c.3871C>T p.Q1291* Substitution - Nonsense 38 3:58124478-58124478 + - NEUTRAL .47164 Confirmed somatic variant 27149842 NS NS 68.75 ENSP00000295956.4:p.Gln1291Ter ENST00000295956.8:c.3871C>T 3:g.58124478C>T CDH6 ENST00000265071.2 2373 1765 TCGA-KQ-A41O-01 2457400 2320237 urinary_tract bladder NS NS carcinoma NS NS NS y COSV99418546 COSM7656297 101096322 c.1604C>G p.S535* Substitution - Nonsense 38 5:31317466-31317466 + - PATHOGENIC .99247 Confirmed somatic variant 413 NS primary 84 ENSP00000265071.2:p.Ser535Ter ENST00000265071.2:c.1604C>G 5:g.31317466C>G CDH6 ENST00000265071.2 2373 1765 3N27-VS-3T27 2363594 2226521 oesophagus NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV54063694 COSM1436985 101096328 c.2065C>T p.R689* Substitution - Nonsense 38 5:31323000-31323000 + - PATHOGENIC .83309 Confirmed somatic variant 25839328 NS NS 48 ENSP00000265071.2:p.Arg689Ter ENST00000265071.2:c.2065C>T 5:g.31323000C>T NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 EC13 2906907 2761189 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV105907310 COSM10008087 119166770 c.355C>T p.R119* Substitution - Nonsense 38 12:124483652-124483652 - - PATHOGENIC .9287 Confirmed somatic variant 33016334 surgery-fixed NS ENSP00000384202.1:p.Arg119Ter ENST00000404621.5:c.355C>T 12:g.124483652G>A MPP2_ENST00000625880 ENST00000625880.2 1722 7220 T2944 2296140 2161743 large_intestine colon transverse NS carcinoma adenocarcinoma NS NS y COSV52232941 COSM4703060 170463736 c.268G>T p.E90* Substitution - Nonsense 38 17:43883301-43883301 - - PATHOGENIC .97612 Confirmed somatic variant 25344691 NS NS 73.25 ENSP00000486553.1:p.Glu90Ter ENST00000625880.2:c.268G>T 17:g.43883301C>A MPP2_ENST00000625880 ENST00000625880.2 1722 7220 pfg122T 2309663 2174865 stomach NS NS NS carcinoma intestinal_adenocarcinoma NS NS y COSV52235759 COSM4753622 170464675 c.1432C>T p.R478* Substitution - Nonsense het 38 17:43879388-43879388 - - PATHOGENIC .87628 Confirmed somatic variant 24816253 surgery fresh/frozen NS 83 ENSP00000486553.1:p.Arg478Ter ENST00000625880.2:c.1432C>T 17:g.43879388G>A GNPNAT1 ENST00000216410.7 555 19980 T578 2658233 2518392 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV53591184 COSM4687502 98188456 c.316G>T p.E106* Substitution - Nonsense 38 14:52781813-52781813 - - PATHOGENIC .99747 Confirmed somatic variant 27149842 NS NS 61.08 ENSP00000216410.3:p.Glu106Ter ENST00000216410.7:c.316G>T 14:g.52781813C>A GSTO2 ENST00000338595.6 732 23064 587376 1766805 1671125 large_intestine colon NS NS carcinoma adenocarcinoma NS NS y COSV58538983 COSM1209148 103495180 c.253G>T p.E85* Substitution - Nonsense 38 10:104278003-104278003 + - PATHOGENIC .96466 Confirmed somatic variant 22895193 surgery fresh/frozen primary ENSP00000345023.1:p.Glu85Ter ENST00000338595.6:c.253G>T 10:g.104278003G>T FLNB_ENST00000295956 ENST00000295956.8 7809 3755 W3T 2745040 2603743 thyroid NS NS NS carcinoma NS NS NS y COSV55871421 COSM6434262 100486045 c.624G>A p.W208* Substitution - Nonsense 38 3:58078799-58078799 + - PATHOGENIC .99417 Confirmed somatic variant 676 NS primary 44 ENSP00000295956.4:p.Trp208Ter ENST00000295956.8:c.624G>A 3:g.58078799G>A TRERF1_ENST00000372917 ENST00000372917.8 2871 18273 TCGA-ZF-A9RG-01 2385818 2248650 urinary_tract bladder NS NS carcinoma NS NS NS y COSV100549740 COSM7659482 112194957 c.1858G>T p.E620* Substitution - Nonsense 38 6:42254917-42254917 - - PATHOGENIC .97091 Confirmed somatic variant 413 NS primary 70 ENSP00000362008.5:p.Glu620Ter ENST00000372917.8:c.1858G>T 6:g.42254917C>A MPP2_ENST00000625880 ENST00000625880.2 1722 7220 MELA_0013 2837859 2693634 skin mucosal female_genitourinary_system NS malignant_melanoma NS NS NS y COSV104577810 COSM9350186 170463364 c.980C>G p.S327* Substitution - Nonsense 38 17:43881246-43881246 - - PATHOGENIC .98374 Confirmed somatic variant 31320640 surgery fresh/frozen primary 46 ENSP00000486553.1:p.Ser327Ter ENST00000625880.2:c.980C>G 17:g.43881246G>C GNPNAT1 ENST00000216410.7 555 19980 T578 2296255 2161858 large_intestine caecum NS NS carcinoma adenocarcinoma NS NS y COSV53591184 COSM4687502 98188456 c.316G>T p.E106* Substitution - Nonsense 38 14:52781813-52781813 - - PATHOGENIC .99747 Confirmed somatic variant 25344691 NS NS 61.08 ENSP00000216410.3:p.Glu106Ter ENST00000216410.7:c.316G>T 14:g.52781813C>A GNPNAT1 ENST00000216410.7 555 19980 sysucc-311T 2456736 2319573 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV53592642 COSM5478703 98188953 c.379G>T p.E127* Substitution - Nonsense 38 14:52780707-52780707 - - PATHOGENIC .98854 Confirmed somatic variant 646 NS primary 54 ENSP00000216410.3:p.Glu127Ter ENST00000216410.7:c.379G>T 14:g.52780707C>A GSTO2 ENST00000338595.6 732 23064 IGC-10-1178 2662346 2522470 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV58539756 COSM6551296 103494895 c.475G>T p.E159* Substitution - Nonsense 38 10:104297584-104297584 + - NEUTRAL .25358 Confirmed somatic variant 27923066 surgery fresh/frozen primary ENSP00000345023.1:p.Glu159Ter ENST00000338595.6:c.475G>T 10:g.104297584G>T GSTO2 ENST00000338595.6 732 23064 TCGA-EO-A3AY-01 2198325 2066603 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV100086508 COSM8857664 103494945 c.295G>T p.G99* Substitution - Nonsense 38 10:104278045-104278045 + - PATHOGENIC .95693 Confirmed somatic variant 419 NS NS 58 ENSP00000345023.1:p.Gly99Ter ENST00000338595.6:c.295G>T 10:g.104278045G>T ARHGAP18 ENST00000368149.2 1992 21035 GCYC_051_T 2747641 2606344 stomach NS NS NS carcinoma NS NS NS y COSV100936280 COSM8580834 110357749 c.1021C>T p.R341* Substitution - Nonsense 38 6:129616235-129616235 - - PATHOGENIC .8657 Confirmed somatic variant 683 NS primary ENSP00000357131.2:p.Arg341Ter ENST00000368149.2:c.1021C>T 6:g.129616235G>A PRTFDC1_ENST00000376378 ENST00000376378.5 573 23333 T593 2658231 2518390 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV60777944 COSM6757275 115855443 c.292C>T p.R98* Substitution - Nonsense 38 10:24937231-24937231 - - NEUTRAL .13892 Confirmed somatic variant 27149842 NS NS 67.5 ENSP00000365558.1:p.Arg98Ter ENST00000376378.5:c.292C>T 10:g.24937231G>A TCF21 ENST00000367882.4 540 11632 S00932 1759206 1663954 lung NS NS NS carcinoma small_cell_carcinoma NS NS n COSV52819233 COSM315837 109554799 c.349A>T p.K117* Substitution - Nonsense 38 6:133889746-133889746 + - PATHOGENIC .94695 Reported in another cancer sample as somatic 22941188 fresh/frozen - NOS NS 69 ENSP00000356857.4:p.Lys117Ter ENST00000367882.4:c.349A>T 6:g.133889746A>T TCF21 ENST00000367882.4 540 11632 TCGA-QS-A5YQ-01 2198304 2066582 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV52818942 COSM3174187 109554567 c.259C>T p.R87* Substitution - Nonsense 38 6:133889656-133889656 + - PATHOGENIC .83644 Confirmed somatic variant 419 NS NS 55 ENSP00000356857.4:p.Arg87Ter ENST00000367882.4:c.259C>T 6:g.133889656C>T FLNB_ENST00000295956 ENST00000295956.8 7809 3755 Thyroid-CN-WZ030T 2635091 2495487 thyroid NS NS NS carcinoma NS NS NS y COSV55871421 COSM6434262 100486045 c.624G>A p.W208* Substitution - Nonsense 38 3:58078799-58078799 + - PATHOGENIC .99417 Confirmed somatic variant 676 NS primary 44 ENSP00000295956.4:p.Trp208Ter ENST00000295956.8:c.624G>A 3:g.58078799G>A CDH6 ENST00000265071.2 2373 1765 53M 2466838 2329669 skin upper_arm NS NS malignant_melanoma desmoplastic NS NS y COSV54075499 COSM5594382 101098685 c.379C>T p.R127* Substitution - Nonsense 38 5:31294112-31294112 + - PATHOGENIC .90978 Confirmed somatic variant 26343386 surgery fresh/frozen NS 82 ENSP00000265071.2:p.Arg127Ter ENST00000265071.2:c.379C>T 5:g.31294112C>T NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 W5T 2745041 2603744 thyroid NS NS NS carcinoma NS NS NS y COSV62293478 COSM6376558 119152045 c.6605T>A p.L2202* Substitution - Nonsense 38 12:124333250-124333250 - - PATHOGENIC .85459 Confirmed somatic variant 676 NS primary 67 ENSP00000384202.1:p.Leu2202Ter ENST00000404621.5:c.6605T>A 12:g.124333250A>T GNPNAT1 ENST00000216410.7 555 19980 T546 2658248 2518407 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV53592019 COSM6672437 98189102 c.453C>A p.Y151* Substitution - Nonsense 38 14:52778413-52778413 - - PATHOGENIC .9072 Confirmed somatic variant 27149842 NS NS 69.91 ENSP00000216410.3:p.Tyr151Ter ENST00000216410.7:c.453C>A 14:g.52778413G>T GNPNAT1 ENST00000216410.7 555 19980 T3116 2658505 2518664 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV53591614 COSM4687501 98187848 c.453C>G p.Y151* Substitution - Nonsense 38 14:52778413-52778413 - - PATHOGENIC .91917 Confirmed somatic variant 27149842 NS NS 76.91 ENSP00000216410.3:p.Tyr151Ter ENST00000216410.7:c.453C>G 14:g.52778413G>C GNPNAT1 ENST00000216410.7 555 19980 T3116 2296183 2161786 large_intestine colon descending NS carcinoma adenocarcinoma NS NS y COSV53591614 COSM4687501 98187848 c.453C>G p.Y151* Substitution - Nonsense 38 14:52778413-52778413 - - PATHOGENIC .91917 Confirmed somatic variant 25344691 NS NS 76.91 ENSP00000216410.3:p.Tyr151Ter ENST00000216410.7:c.453C>G 14:g.52778413G>C GSTO2 ENST00000338595.6 732 23064 CHG-2014-13450T 2634358 2494754 liver NS NS NS other neoplasm NS NS y COSV58539416 COSM6338119 103495131 c.189C>A p.Y63* Substitution - Nonsense 38 10:104277939-104277939 + - PATHOGENIC .77508 Confirmed somatic variant 660 NS primary 37 ENSP00000345023.1:p.Tyr63Ter ENST00000338595.6:c.189C>A 10:g.104277939C>A CDH6 ENST00000265071.2 2373 1765 TCGA-CM-5341-01 1651213 1566000 large_intestine colon sigmoid NS carcinoma adenocarcinoma NS NS y COSV54063694 COSM1436985 101096328 c.2065C>T p.R689* Substitution - Nonsense 38 5:31323000-31323000 + - PATHOGENIC .83309 Confirmed somatic variant 376 NS NS 82 ENSP00000265071.2:p.Arg689Ter ENST00000265071.2:c.2065C>T 5:g.31323000C>T NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 TCGA-13-0900-01 1474861 1398560 ovary NS NS NS carcinoma serous_carcinoma NS NS y COSV62297337 COSM79394 119147370 c.1410C>A p.Y470* Substitution - Nonsense het 38 12:124420026-124420026 - - PATHOGENIC .9904 Confirmed somatic variant 21720365 331 NS primary 59 ENSP00000384202.1:p.Tyr470Ter ENST00000404621.5:c.1410C>A 12:g.124420026G>T NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 TCGA-GV-A3QG-01 1898139 1786823 urinary_tract bladder NS NS carcinoma NS NS NS y COSV100657344 COSM1299094 119148670 c.2983C>T p.Q995* Substitution - Nonsense 38 12:124362189-124362189 - - PATHOGENIC .89754 Confirmed somatic variant 413 fresh/frozen - NOS primary 65 ENSP00000384202.1:p.Gln995Ter ENST00000404621.5:c.2983C>T 12:g.124362189G>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 TCGA-23-1121-01 2196388 2064666 ovary NS NS NS carcinoma serous_carcinoma NS NS y COSV100657932 COSM7515823 119169793 c.3780C>G p.Y1260* Substitution - Nonsense 38 12:124350621-124350621 - - PATHOGENIC .86337 Confirmed somatic variant 21720365 331 NS NS 51 ENSP00000384202.1:p.Tyr1260Ter ENST00000404621.5:c.3780C>G 12:g.124350621G>C NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 TCGA-23-1121-01 2196388 2064666 ovary NS NS NS carcinoma serous_carcinoma NS NS y COSV100657932 COSM7515823 119169793 c.3780C>G p.Y1260* Substitution - Nonsense 38 12:124350621-124350621 - - PATHOGENIC .86337 Confirmed somatic variant 331 NS NS 51 ENSP00000384202.1:p.Tyr1260Ter ENST00000404621.5:c.3780C>G 12:g.124350621G>C SOHLH2 ENST00000379881.7 1278 26026 TCGA-19-5956-01 2178192 2046490 central_nervous_system brain NS NS glioma astrocytoma_Grade_IV glioblastoma_multiforme NS y COSV58522210 COSM947124 113716926 c.460G>T p.E154* Substitution - Nonsense 38 13:36191865-36191865 - - NEUTRAL .06104 Confirmed somatic variant 329 NS NS 53 ENSP00000369210.3:p.Glu154Ter ENST00000379881.7:c.460G>T 13:g.36191865C>A GPR137_ENST00000377702 ENST00000377702.8 1041 24300 ESO-1059 1890879 1780248 oesophagus NS NS NS carcinoma adenocarcinoma NS NS y COSV57404299 COSM1253511 115188580 c.297C>G p.Y99* Substitution - Nonsense 38 11:64286821-64286821 + - PATHOGENIC .83462 Variant of unknown origin 23525077 surgery fresh/frozen primary 86 ENSP00000366931.4:p.Tyr99Ter ENST00000377702.8:c.297C>G 11:g.64286821C>G ARHGAP18 ENST00000368149.2 1992 21035 TCGA-AZ-4315-01 1651162 1565949 large_intestine caecum NS NS carcinoma adenocarcinoma NS NS y COSV63764213 COSM1440417 110356671 c.1135G>T p.E379* Substitution - Nonsense 38 6:129608040-129608040 - - PATHOGENIC .95178 Confirmed somatic variant 376 NS NS 61 ENSP00000357131.2:p.Glu379Ter ENST00000368149.2:c.1135G>T 6:g.129608040C>A PRTFDC1_ENST00000376378 ENST00000376378.5 573 23333 CHG-90T 2634272 2494668 liver NS NS NS other neoplasm NS NS y COSV60777270 COSM7312010 115856625 c.554C>A p.S185* Substitution - Nonsense 38 10:24849891-24849891 - - PATHOGENIC .90098 Confirmed somatic variant 660 NS primary 64 ENSP00000365558.1:p.Ser185Ter ENST00000376378.5:c.554C>A 10:g.24849891G>T TCF21 ENST00000367882.4 540 11632 sysucc-1421T 2456727 2319564 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV52818942 COSM3174187 109554567 c.259C>T p.R87* Substitution - Nonsense 38 6:133889656-133889656 + - PATHOGENIC .83644 Confirmed somatic variant 646 NS primary 36 ENSP00000356857.4:p.Arg87Ter ENST00000367882.4:c.259C>T 6:g.133889656C>T NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 PCA0127 2580104 2441441 prostate NS NS NS carcinoma adenocarcinoma NS NS n COSV62294060 COSM6005561 119151274 c.1841G>A p.W614* Substitution - Nonsense 38 12:124398151-124398151 - - PATHOGENIC .95501 Confirmed somatic variant 20579941 surgery fresh/frozen primary 52 ENSP00000384202.1:p.Trp614Ter ENST00000404621.5:c.1841G>A 12:g.124398151C>T MPP2_ENST00000625880 ENST00000625880.2 1722 7220 T2944 2658308 2518467 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV52232941 COSM4703060 170463736 c.268G>T p.E90* Substitution - Nonsense 38 17:43883301-43883301 - - PATHOGENIC .97612 Confirmed somatic variant 27149842 NS NS 73.25 ENSP00000486553.1:p.Glu90Ter ENST00000625880.2:c.268G>T 17:g.43883301C>A COLEC11_ENST00000349077 ENST00000349077.8 816 17213 CSB1 2373539 2236332 breast NS NS NS carcinoma luminal_NS_carcinoma NS NS n COSV52596121 COSM5025562 107205423 c.391C>T p.Q131* Substitution - Nonsense 38 2:3643506-3643506 + - PATHOGENIC .97767 Confirmed somatic variant 22722193 NS NS ENSP00000339168.4:p.Gln131Ter ENST00000349077.8:c.391C>T 2:g.3643506C>T GPR137_ENST00000377702 ENST00000377702.8 1041 24300 TCGA-BR-4201-01 2197878 2066156 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV57404233 COSM4035093 115190203 c.400C>T p.R134* Substitution - Nonsense 38 11:64287007-64287007 + - PATHOGENIC .72097 Confirmed somatic variant 541 NS NS 66 ENSP00000366931.4:p.Arg134Ter ENST00000377702.8:c.400C>T 11:g.64287007C>T NFATC4_ENST00000555167 ENST00000555167.1 1311 7778 HT55 2301989 2167272 large_intestine rectum NS NS carcinoma adenocarcinoma NS NS y COSV51604713 COSM2033382 159425647 c.187A>T p.K63* Substitution - Nonsense hom 38 14:24373717-24373717 + - PATHOGENIC .99743 Variant of unknown origin 24755471 cell-line NS ENSP00000451395.1:p.Lys63Ter ENST00000555167.1:c.187A>T 14:g.24373717A>T NFATC4_ENST00000555167 ENST00000555167.1 1311 7778 451 2097244 1975308 urinary_tract bladder NS NS carcinoma NS NS NS y COSV51596793 COSM1742474 159418640 c.818C>G p.S273* Substitution - Nonsense 38 14:24376450-24376450 + - PATHOGENIC .74317 Variant of unknown origin 24121791 NS NS ENSP00000451395.1:p.Ser273Ter ENST00000555167.1:c.818C>G 14:g.24376450C>G TCF21 ENST00000367882.4 540 11632 DD191_Org 2749233 2607933 stomach gastroesophageal_junction NS NS carcinoma adenocarcinoma NS NS y COSV105104237 COSM9827890 109555618 c.172A>T p.K58* Substitution - Nonsense het 38 6:133889569-133889569 + - PATHOGENIC .97088 Confirmed somatic variant 29703791 organoid culture primary 66 ENSP00000356857.4:p.Lys58Ter ENST00000367882.4:c.172A>T 6:g.133889569A>T FLNB_ENST00000295956 ENST00000295956.8 7809 3755 TCGA-QK-A6IH-01 2262753 2129737 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99911831 COSM8366309 100494653 c.391G>T p.E131* Substitution - Nonsense 38 3:58077144-58077144 + - PATHOGENIC .99279 Confirmed somatic variant 627 NS primary 65 ENSP00000295956.4:p.Glu131Ter ENST00000295956.8:c.391G>T 3:g.58077144G>T FLNB_ENST00000295956 ENST00000295956.8 7809 3755 113364 1520672 1443047 lung NS NS NS carcinoma small_cell_carcinoma NS NS n COSV55873439 COSM95600 100495346 c.1483A>T p.K495* Substitution - Nonsense 38 3:58102340-58102340 + - PATHOGENIC .92698 Confirmed somatic variant 20668451 NS primary ENSP00000295956.4:p.Lys495Ter ENST00000295956.8:c.1483A>T 3:g.58102340A>T CDH6 ENST00000265071.2 2373 1765 TCGA-EO-A3AV-01 2339770 2204753 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV54067130 COSM1671550 101095611 c.676C>T p.R226* Substitution - Nonsense 38 5:31299496-31299496 + - PATHOGENIC .91284 Confirmed somatic variant 419 NS primary 51 ENSP00000265071.2:p.Arg226Ter ENST00000265071.2:c.676C>T 5:g.31299496C>T CDH6 ENST00000265071.2 2373 1765 CSCC-30-T 2292471 2158535 skin head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV54074675 COSM4452209 101104028 c.1672A>T p.R558* Substitution - Nonsense het 38 5:31317714-31317714 + - PATHOGENIC .90936 Confirmed somatic variant 25303977 surgery fresh/frozen primary 78 ENSP00000265071.2:p.Arg558Ter ENST00000265071.2:c.1672A>T 5:g.31317714A>T NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 WGC003590 2785045 2645161 biliary_tract bile_duct NS NS carcinoma adenocarcinoma NS NS y COSV100658177 COSM7420666 119164541 c.3307A>T p.K1103* Substitution - Nonsense 38 12:124355476-124355476 - - PATHOGENIC .98832 Confirmed somatic variant 25526346 surgery fresh/frozen primary 44 ENSP00000384202.1:p.Lys1103Ter ENST00000404621.5:c.3307A>T 12:g.124355476T>A SOHLH2 ENST00000379881.7 1278 26026 S02269 2864376 2719536 lung NS NS NS carcinoma large_cell_neuroendocrine_carcinoma NS NS y COSV105175950 COSM9606748 113714006 c.408G>A p.W136* Substitution - Nonsense 38 13:36193643-36193643 - - PATHOGENIC .83257 Confirmed somatic variant 29535388 surgery fresh/frozen NS 66 ENSP00000369210.3:p.Trp136Ter ENST00000379881.7:c.408G>A 13:g.36193643C>T MPP2_ENST00000625880 ENST00000625880.2 1722 7220 EXTERN_MELA_20140505_023 2839407 2695173 skin mucosal vulva NS malignant_melanoma NS NS NS y COSV104577810 COSM9350186 170463364 c.980C>G p.S327* Substitution - Nonsense 38 17:43881246-43881246 - - PATHOGENIC .98374 Confirmed somatic variant 28467829 surgery fresh/frozen primary ENSP00000486553.1:p.Ser327Ter ENST00000625880.2:c.980C>G 17:g.43881246G>C GPR137_ENST00000377702 ENST00000377702.8 1041 24300 TCGA-13-1494-01 1475106 1398805 ovary NS NS NS carcinoma serous_carcinoma NS NS y COSV100464284 COSM7498229 115190598 c.206G>A p.W69* Substitution - Nonsense 38 11:64286730-64286730 + - PATHOGENIC .92815 Confirmed somatic variant 331 NS primary 43 ENSP00000366931.4:p.Trp69Ter ENST00000377702.8:c.206G>A 11:g.64286730G>A NFATC4_ENST00000555167 ENST00000555167.1 1311 7778 TCGA-44-3918-01 1780116 1684115 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV51602964 COSM6075664 159421162 c.1156G>T p.E386* Substitution - Nonsense 38 14:24376788-24376788 + - .68058 Variant of unknown origin 417 fresh/frozen - NOS primary 60 ENSP00000451395.1:p.Glu386Ter ENST00000555167.1:c.1156G>T 14:g.24376788G>T TCF21 ENST00000367882.4 540 11632 S00932_1 2480828 2343573 lung NS NS NS carcinoma small_cell_carcinoma NS NS y COSV52819233 COSM315837 109554799 c.349A>T p.K117* Substitution - Nonsense 38 6:133889746-133889746 + - PATHOGENIC .94695 Confirmed somatic variant 26168399 surgery fresh/frozen primary 69 ENSP00000356857.4:p.Lys117Ter ENST00000367882.4:c.349A>T 6:g.133889746A>T TCF21 ENST00000367882.4 540 11632 TCGA-4Z-AA84-01 2385730 2248562 urinary_tract bladder NS NS carcinoma NS NS NS y COSV52819754 COSM3858426 109554457 c.277C>T p.R93* Substitution - Nonsense 38 6:133889674-133889674 + - PATHOGENIC .82049 Confirmed somatic variant 413 NS primary 61 ENSP00000356857.4:p.Arg93Ter ENST00000367882.4:c.277C>T 6:g.133889674C>T TCF21 ENST00000367882.4 540 11632 TCGA-CD-A4MG-01 2198123 2066401 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV52819754 COSM3858426 109554457 c.277C>T p.R93* Substitution - Nonsense 38 6:133889674-133889674 + - PATHOGENIC .82049 Confirmed somatic variant 541 NS NS 76 ENSP00000356857.4:p.Arg93Ter ENST00000367882.4:c.277C>T 6:g.133889674C>T MCF2L_ENST00000375604 ENST00000375604.6 3372 14576 ZZUFHECRKL-G067T 2456987 2319824 oesophagus NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV56180409 COSM5438625 113434279 c.3053T>A p.L1018* Substitution - Nonsense 38 13:113094619-113094619 + - NEUTRAL .12956 Confirmed somatic variant 582 NS primary 66 ENSP00000364754.3:p.Leu1018Ter ENST00000375604.6:c.3053T>A 13:g.113094619T>A PRTFDC1_ENST00000376378 ENST00000376378.5 573 23333 TCGA-EO-A3AY-01 2198325 2066603 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV60777944 COSM6757275 115855443 c.292C>T p.R98* Substitution - Nonsense 38 10:24937231-24937231 - - NEUTRAL .13892 Confirmed somatic variant 419 NS NS 58 ENSP00000365558.1:p.Arg98Ter ENST00000376378.5:c.292C>T 10:g.24937231G>A TCF21 ENST00000367882.4 540 11632 2014_Lung_sq_98_T 2744865 2603568 lung NS NS NS carcinoma NS NS NS y COSV52819669 COSM7235688 109554698 c.132C>A p.C44* Substitution - Nonsense 38 6:133889529-133889529 + - PATHOGENIC .89766 Confirmed somatic variant 583 NS primary 48 ENSP00000356857.4:p.Cys44Ter ENST00000367882.4:c.132C>A 6:g.133889529C>A P2RX2_ENST00000449132 ENST00000449132.6 1113 15459 TCGA-50-5941-01 1780165 1684164 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV57691944 COSM6071982 133398534 c.354C>A p.C118* Substitution - Nonsense 38 12:132619888-132619888 + - NEUTRAL .07413 Variant of unknown origin 417 fresh/frozen - NOS primary 55 ENSP00000405531.2:p.Cys118Ter ENST00000449132.6:c.354C>A 12:g.132619888C>A P2RX2_ENST00000449132 ENST00000449132.6 1113 15459 TARGET-30-PARSBI 1898515 1787199 autonomic_ganglia NS NS NS neuroblastoma NS NS NS y COSV57686459 COSM1286942 133396318 c.462C>G p.Y154* Substitution - Nonsense 38 12:132620281-132620281 + - NEUTRAL .09414 Variant of unknown origin 23334666 NS NS ENSP00000405531.2:p.Tyr154Ter ENST00000449132.6:c.462C>G 12:g.132620281C>G CDH6 ENST00000265071.2 2373 1765 TCGA-EE-A2MR-06 2121688 1995924 skin NS NS NS malignant_melanoma NS NS NS y COSV54067384 COSM3615338 101109037 c.1342C>T p.R448* Substitution - Nonsense 38 5:31313406-31313406 + - PATHOGENIC .93937 Confirmed somatic variant 540 NS NS 61 ENSP00000265071.2:p.Arg448Ter ENST00000265071.2:c.1342C>T 5:g.31313406C>T NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 2492720 2492720 2355335 skin ear NS NS malignant_melanoma NS NS NS y COSV62295574 COSM5722080 119152502 c.2893G>T p.E965* Substitution - Nonsense 38 12:124362279-124362279 - - PATHOGENIC .93284 Confirmed somatic variant 26286987 surgery fresh/frozen primary ENSP00000384202.1:p.Glu965Ter ENST00000404621.5:c.2893G>T 12:g.124362279C>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 5-VS017-T2 2869838 2724835 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV105262213 COSM9698144 119149429 c.1033G>T p.E345* Substitution - Nonsense 38 12:124430637-124430637 - - PATHOGENIC .983 Confirmed somatic variant 26950094 surgery fresh/frozen NS 90 ENSP00000384202.1:p.Glu345Ter ENST00000404621.5:c.1033G>T 12:g.124430637C>A COLEC11_ENST00000349077 ENST00000349077.8 816 17213 1000T 2507147 2369483 pancreas NS NS NS carcinoid-endocrine_tumour NS NS NS y COSV52593353 COSM4963549 107202899 c.499C>T p.Q167* Substitution - Nonsense 38 2:3643801-3643801 + - PATHOGENIC .87388 Confirmed somatic variant 661 NS primary 53 ENSP00000339168.4:p.Gln167Ter ENST00000349077.8:c.499C>T 2:g.3643801C>T COLEC11_ENST00000349077 ENST00000349077.8 816 17213 TCGA-34-5231-01 1781255 1685254 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV52594317 COSM721099 107204904 c.409A>T p.K137* Substitution - Nonsense 38 2:3643524-3643524 + - PATHOGENIC .90272 Confirmed somatic variant 418 fresh/frozen - NOS primary 72 ENSP00000339168.4:p.Lys137Ter ENST00000349077.8:c.409A>T 2:g.3643524A>T P2RX2_ENST00000449132 ENST00000449132.6 1113 15459 HCC2998 2301977 2167260 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV57677372 COSM1677500 133396200 c.493G>T p.E165* Substitution - Nonsense het 38 12:132620312-132620312 + - PATHOGENIC .98677 Reported in another cancer sample as somatic 24755471 cell-line NS ENSP00000405531.2:p.Glu165Ter ENST00000449132.6:c.493G>T 12:g.132620312G>T FLNB_ENST00000295956 ENST00000295956.8 7809 3755 TCGA-EE-A2MD-06 2121676 1995912 skin NS NS NS malignant_melanoma NS NS NS y COSV55898574 COSM3596838 100490158 c.6886C>T p.Q2296* Substitution - Nonsense 38 3:58156073-58156073 + - PATHOGENIC .97616 Confirmed somatic variant 540 NS NS 52 ENSP00000295956.4:p.Gln2296Ter ENST00000295956.8:c.6886C>T 3:g.58156073C>T NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 LICA-CN-HCC065T 2634112 2494508 liver NS NS NS other neoplasm NS NS y COSV62301755 COSM5813032 119144457 c.1882G>T p.E628* Substitution - Nonsense 38 12:124385879-124385879 - - PATHOGENIC .92623 Confirmed somatic variant 660 NS primary 39 ENSP00000384202.1:p.Glu628Ter ENST00000404621.5:c.1882G>T 12:g.124385879C>A SOHLH2 ENST00000379881.7 1278 26026 T3338 2658691 2518850 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV65901182 COSM6786963 113713246 c.1019C>A p.S340* Substitution - Nonsense 38 13:36170769-36170769 - - PATHOGENIC .83427 Confirmed somatic variant 27149842 NS NS 69.83 ENSP00000369210.3:p.Ser340Ter ENST00000379881.7:c.1019C>A 13:g.36170769G>T NFATC4_ENST00000555167 ENST00000555167.1 1311 7778 92177 2807582 2664283 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV51605486 COSM289467 159426983 c.517C>T p.R173* Substitution - Nonsense 38 14:24375698-24375698 + - .69687 Confirmed somatic variant 24807215 surgery fresh/frozen primary 45 ENSP00000451395.1:p.Arg173Ter ENST00000555167.1:c.517C>T 14:g.24375698C>T P2RX2_ENST00000449132 ENST00000449132.6 1113 15459 TCGA-EK-A2RJ-01 2263069 2130053 cervix NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV57688817 COSM4832080 133396690 c.193A>T p.K65* Substitution - Nonsense 38 12:132619458-132619458 + - PATHOGENIC .99325 Confirmed somatic variant 415 NS primary 51 ENSP00000405531.2:p.Lys65Ter ENST00000449132.6:c.193A>T 12:g.132619458A>T P2RX2_ENST00000449132 ENST00000449132.6 1113 15459 F144 2815745 2672106 large_intestine rectum NS NS carcinoma adenocarcinoma NS NS y COSV104412965 COSM9232038 133396612 c.816C>A p.Y272* Substitution - Nonsense 38 12:132621267-132621267 + - .54638 Confirmed somatic variant 31660073 surgery fresh/frozen NS 58 ENSP00000405531.2:p.Tyr272Ter ENST00000449132.6:c.816C>A 12:g.132621267C>A FLNB_ENST00000295956 ENST00000295956.8 7809 3755 TCGA-AA-A010-01 1651109 1565896 large_intestine colon transverse NS carcinoma adenocarcinoma NS NS y COSV55869869 COSM172580 100488976 c.655G>T p.E219* Substitution - Nonsense 38 3:58081644-58081644 + - PATHOGENIC .98097 Confirmed somatic variant 22810696 376 NS NS 46 ENSP00000295956.4:p.Glu219Ter ENST00000295956.8:c.655G>T 3:g.58081644G>T TRERF1_ENST00000372917 ENST00000372917.8 2871 18273 5-VS034-T1 2869858 2724855 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV105236877 COSM9744739 112195123 c.133C>T p.Q45* Substitution - Nonsense 38 6:42268975-42268975 - - PATHOGENIC .96956 Confirmed somatic variant 26950094 surgery fresh/frozen NS 75 ENSP00000362008.5:p.Gln45Ter ENST00000372917.8:c.133C>T 6:g.42268975G>A CDH6 ENST00000265071.2 2373 1765 sysucc-880T 2456759 2319596 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV54066505 COSM3014326 101095907 c.1359G>A p.W453* Substitution - Nonsense 38 5:31313423-31313423 + - PATHOGENIC .99715 Confirmed somatic variant 646 NS primary 51 ENSP00000265071.2:p.Trp453Ter ENST00000265071.2:c.1359G>A 5:g.31313423G>A CDH6 ENST00000265071.2 2373 1765 5-VS034-T1 2869858 2724855 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV105001383 COSM9743214 101099766 c.2310G>A p.W770* Substitution - Nonsense 38 5:31323245-31323245 + - PATHOGENIC .983 Confirmed somatic variant 26950094 surgery fresh/frozen NS 75 ENSP00000265071.2:p.Trp770Ter ENST00000265071.2:c.2310G>A 5:g.31323245G>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 PCRC13_1A 2873947 2728822 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS y COSV62304518 COSM4878863 119161868 c.5362C>T p.R1788* Substitution - Nonsense 38 12:124340390-124340390 - - PATHOGENIC .89549 Confirmed somatic variant 30038269 surgery fresh/frozen NS 87 ENSP00000384202.1:p.Arg1788Ter ENST00000404621.5:c.5362C>T 12:g.124340390G>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 HCC94 2120903 1995139 liver NS NS NS carcinoma NS NS NS y COSV62298041 COSM1605741 119147333 c.4953C>G p.Y1651* Substitution - Nonsense 38 12:124342028-124342028 - - PATHOGENIC .96468 Confirmed somatic variant 323 NS NS ENSP00000384202.1:p.Tyr1651Ter ENST00000404621.5:c.4953C>G 12:g.124342028G>C GPR137_ENST00000377702 ENST00000377702.8 1041 24300 YUPAT 2013666 1896298 skin NS NS NS malignant_melanoma NS NS NS y COSV57403326 COSM1704195 115189997 c.138G>A p.W46* Substitution - Nonsense het 38 11:64286662-64286662 + - PATHOGENIC .94136 Confirmed somatic variant 22842228 NS NS ENSP00000366931.4:p.Trp46Ter ENST00000377702.8:c.138G>A 11:g.64286662G>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 RK197_C01 2194697 2062975 liver NS NS NS carcinoma NS NS NS y COSV62300721 COSM3739490 119163479 c.511G>T p.E171* Substitution - Nonsense 38 12:124473032-124473032 - - PATHOGENIC .99372 Confirmed somatic variant 322 NS NS ENSP00000384202.1:p.Glu171Ter ENST00000404621.5:c.511G>T 12:g.124473032C>A COLEC11_ENST00000349077 ENST00000349077.8 816 17213 TCGA-EY-A1GI-01 2198283 2066561 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV99363457 COSM8823388 107201085 c.220G>T p.G74* Substitution - Nonsense 38 2:3637550-3637550 + - PATHOGENIC .9938 Confirmed somatic variant 419 NS NS 52 ENSP00000339168.4:p.Gly74Ter ENST00000349077.8:c.220G>T 2:g.3637550G>T COLEC11_ENST00000349077 ENST00000349077.8 816 17213 ITNET_1000_T 2340564 2205547 pancreas NS NS NS carcinoid-endocrine_tumour NS NS NS y COSV52593353 COSM4963549 107202899 c.499C>T p.Q167* Substitution - Nonsense 38 2:3643801-3643801 + - PATHOGENIC .87388 Confirmed somatic variant 650 NS primary 53 ENSP00000339168.4:p.Gln167Ter ENST00000349077.8:c.499C>T 2:g.3643801C>T CDH6 ENST00000265071.2 2373 1765 TCGA-D3-A8GQ-06 2339484 2204467 skin NS NS NS malignant_melanoma NS NS NS y COSV54075499 COSM5594382 101098685 c.379C>T p.R127* Substitution - Nonsense 38 5:31294112-31294112 + - PATHOGENIC .90978 Confirmed somatic variant 540 NS NS 66 ENSP00000265071.2:p.Arg127Ter ENST00000265071.2:c.379C>T 5:g.31294112C>T GPR137_ENST00000377702 ENST00000377702.8 1041 24300 T134258 2658292 2518451 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV57404285 COSM6673696 115190435 c.418C>T p.R140* Substitution - Nonsense 38 11:64287731-64287731 + - PATHOGENIC .84211 Confirmed somatic variant 27149842 NS NS 73.08 ENSP00000366931.4:p.Arg140Ter ENST00000377702.8:c.418C>T 11:g.64287731C>T NFATC4_ENST00000555167 ENST00000555167.1 1311 7778 CHC1704T 2340950 2205933 liver NS NS NS carcinoma hepatocellular_carcinoma NS NS y COSV51605725 COSM4804099 159419459 c.820G>T p.E274* Substitution - Nonsense 38 14:24376452-24376452 + - NEUTRAL .48343 Confirmed somatic variant 381 NS primary 43 ENSP00000451395.1:p.Glu274Ter ENST00000555167.1:c.820G>T 14:g.24376452G>T FLNB_ENST00000295956 ENST00000295956.8 7809 3755 EXTERN_MELA_20140514_010 2839311 2695077 skin lower_leg NS NS malignant_melanoma NS NS NS y COSV55898574 COSM3596838 100490158 c.6886C>T p.Q2296* Substitution - Nonsense 38 3:58156073-58156073 + - PATHOGENIC .97616 Confirmed somatic variant 28467829 surgery fresh/frozen metastasis ENSP00000295956.4:p.Gln2296Ter ENST00000295956.8:c.6886C>T 3:g.58156073C>T CDH6 ENST00000265071.2 2373 1765 PT53 2521310 2383653 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV54067384 COSM3615338 101109037 c.1342C>T p.R448* Substitution - Nonsense 38 5:31313406-31313406 + - PATHOGENIC .93937 Confirmed somatic variant 25759019 surgery fresh/frozen NS ENSP00000265071.2:p.Arg448Ter ENST00000265071.2:c.1342C>T 5:g.31313406C>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 2834138 2834138 2689922 skin mucosal female_genital_tract_(site_indeterminate) NS malignant_melanoma NS NS NS y COSV104543137 COSM9341935 111171057 c.5108C>A p.S1703* Substitution - Nonsense 38 6:152427685-152427685 - - .62596 Variant of unknown origin 28296713 surgery - NOS primary 76 ENSP00000356222.4:p.Ser1703Ter ENST00000367253.8:c.5108C>A 6:g.152427685G>T P2RX2_ENST00000449132 ENST00000449132.6 1113 15459 5-VS009-T2 2869830 2724827 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV105207642 COSM9678607 133397816 c.445C>T p.Q149* Substitution - Nonsense 38 12:132620094-132620094 + - .5881 Confirmed somatic variant 26950094 surgery fresh/frozen NS 69 ENSP00000405531.2:p.Gln149Ter ENST00000449132.6:c.445C>T 12:g.132620094C>T P2RX2_ENST00000449132 ENST00000449132.6 1113 15459 TCGA-55-A491-01 2194817 2063095 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV100266305 COSM8667862 133396676 c.889G>T p.G297* Substitution - Nonsense 38 12:132621340-132621340 + - PATHOGENIC .99707 Confirmed somatic variant 417 NS NS 81 ENSP00000405531.2:p.Gly297Ter ENST00000449132.6:c.889G>T 12:g.132621340G>T P2RX2_ENST00000449132 ENST00000449132.6 1113 15459 HCC2998 1998441 1883513 large_intestine colon NS NS carcinoma adenocarcinoma NS NS y COSV57677372 COSM1677500 133396200 c.493G>T p.E165* Substitution - Nonsense het 38 12:132620312-132620312 + - PATHOGENIC .98677 Confirmed somatic variant 23856246 cell-line primary ENSP00000405531.2:p.Glu165Ter ENST00000449132.6:c.493G>T 12:g.132620312G>T P2RX2_ENST00000449132 ENST00000449132.6 1113 15459 TCGA-DK-A6AW-01 2193260 2061538 urinary_tract bladder NS NS carcinoma NS NS NS y COSV57677372 COSM1677500 133396200 c.493G>T p.E165* Substitution - Nonsense 38 12:132620312-132620312 + - PATHOGENIC .98677 Confirmed somatic variant 413 NS NS 70 ENSP00000405531.2:p.Glu165Ter ENST00000449132.6:c.493G>T 12:g.132620312G>T FLNB_ENST00000295956 ENST00000295956.8 7809 3755 TCGA-BR-8080-01 2197917 2066195 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV55893395 COSM4119614 100494146 c.3606C>G p.Y1202* Substitution - Nonsense 38 3:58123572-58123572 + - PATHOGENIC .93358 Confirmed somatic variant 541 NS NS 72 ENSP00000295956.4:p.Tyr1202Ter ENST00000295956.8:c.3606C>G 3:g.58123572C>G CDH6 ENST00000265071.2 2373 1765 HCC2998 1998441 1883513 large_intestine colon NS NS carcinoma adenocarcinoma NS NS y COSV54067130 COSM1671550 101095611 c.676C>T p.R226* Substitution - Nonsense het 38 5:31299496-31299496 + - PATHOGENIC .91284 Confirmed somatic variant 23856246 cell-line primary ENSP00000265071.2:p.Arg226Ter ENST00000265071.2:c.676C>T 5:g.31299496C>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 587350 1766793 1671113 large_intestine colon NS NS carcinoma adenocarcinoma NS NS y COSV55070742 COSM1228179 111192868 c.1621C>T p.Q541* Substitution - Nonsense 38 6:152471608-152471608 - - PATHOGENIC .91159 Variant of unknown origin 22895193 surgery fresh/frozen primary ENSP00000356222.4:p.Gln541Ter ENST00000367253.8:c.1621C>T 6:g.152471608G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 DS-53295 2833707 2689516 large_intestine colon NS NS carcinoma adenocarcinoma NS NS n COSV104541762 COSM9354670 111225183 c.1025C>G p.S342* Substitution - Nonsense 38 6:152488418-152488418 - - PATHOGENIC .91803 Variant of unknown origin 27302369 surgery fresh/frozen primary ENSP00000356222.4:p.Ser342Ter ENST00000367253.8:c.1025C>G 6:g.152488418G>C P2RX2_ENST00000449132 ENST00000449132.6 1113 15459 TCGA-21-1076-01 1780550 1684549 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV57685562 COSM692206 133398346 c.861C>A p.Y287* Substitution - Nonsense 38 12:132621312-132621312 + - NEUTRAL .15976 Confirmed somatic variant 418 fresh/frozen - NOS primary 54 ENSP00000405531.2:p.Tyr287Ter ENST00000449132.6:c.861C>A 12:g.132621312C>A TRERF1_ENST00000372917 ENST00000372917.8 2871 18273 CSCC-44-T 2292480 2158544 skin head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV61670640 COSM4540759 112196215 c.2158G>T p.E720* Substitution - Nonsense het 38 6:42236381-42236381 - - PATHOGENIC .91711 Confirmed somatic variant 25303977 surgery fresh/frozen primary 43 ENSP00000362008.5:p.Glu720Ter ENST00000372917.8:c.2158G>T 6:g.42236381C>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 MDA-DA-508 2866062 2721139 small_intestine duodenum NS NS carcinoma adenocarcinoma NS NS y COSV105262201 COSM9627657 119170240 c.5086C>T p.R1696* Substitution - Nonsense 38 12:124341895-124341895 - - PATHOGENIC .8322 Confirmed somatic variant 26804919 surgery fresh/frozen NS ENSP00000384202.1:p.Arg1696Ter ENST00000404621.5:c.5086C>T 12:g.124341895G>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 234 2146915 2016058 stomach gastroesophageal_junction NS NS carcinoma adenocarcinoma NS NS y COSV62298736 COSM3730608 119141988 c.3985C>T p.R1329* Substitution - Nonsense 38 12:124347882-124347882 - - PATHOGENIC .92181 Confirmed somatic variant 24308032 surgery - NOS NS ENSP00000384202.1:p.Arg1329Ter ENST00000404621.5:c.3985C>T 12:g.124347882G>A COLEC11_ENST00000349077 ENST00000349077.8 816 17213 EXTERN_MELA_20140924_023 2839319 2695085 skin buttock NS NS malignant_melanoma NS NS NS y COSV104582414 COSM9423628 107202869 c.510_511delinsTT p.Q171* Substitution - Nonsense 38 2:3643812-3643813 + - Confirmed somatic variant 28467829 cell-line metastasis ENSP00000339168.4:p.Gln171Ter ENST00000349077.8:c.510_511delinsTT 2:g.3643812_3643813delinsTT SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 LUAD_E00522 1765259 1669579 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV54939911 COSM353415 111192093 c.3985G>T p.E1329* Substitution - Nonsense 38 6:152442098-152442098 - - PATHOGENIC .95433 Variant of unknown origin 22980975 surgery - NOS primary 46 ENSP00000356222.4:p.Glu1329Ter ENST00000367253.8:c.3985G>T 6:g.152442098C>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 2834130 2834130 2689914 skin mucosal anorectal NS malignant_melanoma NS NS NS y COSV104543146 COSM9324406 111195442 c.2284C>T p.Q762* Substitution - Nonsense 38 6:152461707-152461707 - - PATHOGENIC .88819 Variant of unknown origin 28296713 surgery - NOS primary 59 ENSP00000356222.4:p.Gln762Ter ENST00000367253.8:c.2284C>T 6:g.152461707G>A NFATC4_ENST00000555167 ENST00000555167.1 1311 7778 TCGA-AG-4007-01 1651576 1566363 large_intestine rectum NS NS carcinoma adenocarcinoma NS NS y COSV51605486 COSM289467 159426983 c.517C>T p.R173* Substitution - Nonsense 38 14:24375698-24375698 + - .69687 Confirmed somatic variant 22810696 375 NS primary 87 ENSP00000451395.1:p.Arg173Ter ENST00000555167.1:c.517C>T 14:g.24375698C>T POLR3E_ENST00000359210 ENST00000359210.8 2001 30347 TCGA-55-8089-01 1914032 1802314 lung right_upper_lobe NS NS carcinoma adenocarcinoma NS NS y COSV55402360 COSM6144148 107892221 c.469G>T p.E157* Substitution - Nonsense 38 16:22313724-22313724 + - PATHOGENIC .97238 Variant of unknown origin 417 fresh/frozen - NOS primary 56 ENSP00000352140.4:p.Glu157Ter ENST00000359210.8:c.469G>T 16:g.22313724G>T P2RX2_ENST00000449132 ENST00000449132.6 1113 15459 THCC_86T 2746848 2605551 liver NS NS NS other neoplasm NS NS y COSV57693116 COSM7190286 133397104 c.986T>A p.L329* Substitution - Nonsense 38 12:132621644-132621644 + - PATHOGENIC .99162 Confirmed somatic variant 323 NS primary 74 ENSP00000405531.2:p.Leu329Ter ENST00000449132.6:c.986T>A 12:g.132621644T>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 195 2748167 2606870 stomach NS NS NS carcinoma NS NS NS y COSV100657390 COSM8485099 119142664 c.5119G>T p.E1707* Substitution - Nonsense 38 12:124341862-124341862 - - PATHOGENIC .9824 Confirmed somatic variant 683 NS primary ENSP00000384202.1:p.Glu1707Ter ENST00000404621.5:c.5119G>T 12:g.124341862C>A NFATC4_ENST00000555167 ENST00000555167.1 1311 7778 OSCC-GB_01570111 2747072 2605775 upper_aerodigestive_tract mouth NS NS carcinoma NS NS NS y COSV51606561 COSM7330690 159418038 c.719C>A p.S240* Substitution - Nonsense 38 14:24376351-24376351 + - NEUTRAL .24133 Confirmed somatic variant 539 NS primary 43 ENSP00000451395.1:p.Ser240Ter ENST00000555167.1:c.719C>A 14:g.24376351C>A NFATC4_ENST00000555167 ENST00000555167.1 1311 7778 EXTERN_MELA_20140505_012 2839400 2695166 skin face NS NS malignant_melanoma NS NS NS y COSV104565259 COSM9469163 159428736 c.52C>T p.Q18* Substitution - Nonsense 38 14:24373258-24373258 + - PATHOGENIC .98075 Confirmed somatic variant 28467829 surgery fresh/frozen primary ENSP00000451395.1:p.Gln18Ter ENST00000555167.1:c.52C>T 14:g.24373258C>T NFATC4_ENST00000555167 ENST00000555167.1 1311 7778 H1770 2776323 2634459 lung NS NS NS carcinoma non_small_cell_carcinoma NS NS y COSV51611998 COSM2033386 159422867 c.283C>T p.Q95* Substitution - Nonsense 38 14:24373813-24373813 + - PATHOGENIC .9757 Confirmed somatic variant 29681454 NS NS 57 ENSP00000451395.1:p.Gln95Ter ENST00000555167.1:c.283C>T 14:g.24373813C>T NFATC4_ENST00000555167 ENST00000555167.1 1311 7778 TCGA-D8-A1JG-01 1900053 1788737 breast NS NS NS carcinoma NS NS NS y COSV51603826 COSM1477515 159423593 c.801C>A p.C267* Substitution - Nonsense 38 14:24376433-24376433 + - NEUTRAL .05747 Confirmed somatic variant 414 fresh/frozen - NOS primary 62 ENSP00000451395.1:p.Cys267Ter ENST00000555167.1:c.801C>A 14:g.24376433C>A POLR3E_ENST00000359210 ENST00000359210.8 2001 30347 PR-02-254 1691507 1599774 prostate NS NS NS carcinoma NS NS NS y COSV55404141 COSM246717 107891277 c.814C>T p.Q272* Substitution - Nonsense 38 16:22317155-22317155 + - PATHOGENIC .96602 Variant of unknown origin 22610119 surgery fresh/frozen primary 74 ENSP00000352140.4:p.Gln272Ter ENST00000359210.8:c.814C>T 16:g.22317155C>T ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 H2444 2776330 2634466 lung NS NS NS carcinoma non_small_cell_carcinoma NS NS y COSV71394946 COSM2827424 138559462 c.2965G>T p.E989* Substitution - Nonsense 38 3:78636046-78636046 - - PATHOGENIC .99706 Variant of unknown origin 29681454 NS NS ENSP00000420637.1:p.Glu989Ter ENST00000495273.5:c.2965G>T 3:g.78636046C>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-24-1850-01 1731201 1637167 ovary NS NS NS carcinoma serous_carcinoma NS NS y COSV71393603 COSM1328059 138612917 c.4123C>T p.R1375* Substitution - Nonsense het 38 3:78617659-78617659 - - .50566 Variant of unknown origin 331 NS primary 72 ENSP00000420637.1:p.Arg1375Ter ENST00000495273.5:c.4123C>T 3:g.78617659G>A FLNB_ENST00000295956 ENST00000295956.8 7809 3755 TCGA-BR-8680-01 2197966 2066244 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV55874316 COSM4119627 100476685 c.5551G>T p.E1851* Substitution - Nonsense 38 3:58146046-58146046 + - PATHOGENIC .98418 Confirmed somatic variant 541 NS NS 45 ENSP00000295956.4:p.Glu1851Ter ENST00000295956.8:c.5551G>T 3:g.58146046G>T CDH6 ENST00000265071.2 2373 1765 YUWAND 2013707 1896339 skin mucosal sinonasal NS malignant_melanoma NS NS NS y COSV54070980 COSM1695530 101110854 c.1519C>T p.Q507* Substitution - Nonsense het 38 5:31317381-31317381 + - PATHOGENIC .99012 Confirmed somatic variant 22842228 short-term culture metastasis 59 ENSP00000265071.2:p.Gln507Ter ENST00000265071.2:c.1519C>T 5:g.31317381C>T SYS1_ENST00000372727 ENST00000372727.5 471 16162 OSCC-GB_00600111 2339899 2204882 upper_aerodigestive_tract mouth NS NS carcinoma NS NS NS y COSV54781698 COSM4890228 111684670 c.249C>G p.Y83* Substitution - Nonsense 38 20:45366893-45366893 + - PATHOGENIC .94821 Confirmed somatic variant 539 NS primary 65 ENSP00000361812.1:p.Tyr83Ter ENST00000372727.5:c.249C>G 20:g.45366893C>G SYS1_ENST00000372727 ENST00000372727.5 471 16162 TCGA-CN-6013-01 2193701 2061979 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV54782556 COSM4098824 111684370 c.259C>T p.R87* Substitution - Nonsense 38 20:45366903-45366903 + - PATHOGENIC .96088 Confirmed somatic variant 627 NS NS 56 ENSP00000361812.1:p.Arg87Ter ENST00000372727.5:c.259C>T 20:g.45366903C>T KLHL23_ENST00000602521 ENST00000602521.1 198 27506 TCGA-AA-A02K-01 1901053 1789733 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS y COSV99775980 COSM7579264 167403371 c.82G>T p.G28* Substitution - Nonsense 38 2:169749616-169749616 + - PATHOGENIC .9913 Confirmed somatic variant 376 fresh/frozen - NOS primary 50 ENSP00000475081.1:p.Gly28Ter ENST00000602521.1:c.82G>T 2:g.169749616G>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-66-2783-01 1782843 1686842 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV54943794 COSM740391 111206214 c.3410C>G p.S1137* Substitution - Nonsense 38 6:152449627-152449627 - - PATHOGENIC .84716 Variant of unknown origin 418 fresh/frozen - NOS primary 67 ENSP00000356222.4:p.Ser1137Ter ENST00000367253.8:c.3410C>G 6:g.152449627G>C TUBB3_ENST00000553967 ENST00000553967.1 495 20772 CSCC-38-T 2292476 2158540 skin head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV59247122 COSM4473454 155837283 c.184C>T p.R62* Substitution - Nonsense het 38 16:89933485-89933485 + - .67972 Confirmed somatic variant 25303977 surgery fresh/frozen metastasis 67 ENSP00000450765.1:p.Arg62Ter ENST00000553967.1:c.184C>T 16:g.89933485C>T ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 P403 2878192 2732707 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm diffuse_large_B_cell_lymphoma NS NS n COSV105355969 COSM9865592 138614412 c.1966G>T p.E656* Substitution - Nonsense 38 3:78662007-78662007 - - PATHOGENIC .8917 Variant of unknown origin 32187361 surgery-fixed primary ENSP00000420637.1:p.Glu656Ter ENST00000495273.5:c.1966G>T 3:g.78662007C>A TRERF1_ENST00000372917 ENST00000372917.8 2871 18273 GCTK_425_T 2747458 2606161 stomach NS NS NS carcinoma NS NS NS y COSV100549972 COSM8555817 112193970 c.340C>T p.Q114* Substitution - Nonsense 38 6:42268768-42268768 - - PATHOGENIC .96437 Confirmed somatic variant 683 NS primary ENSP00000362008.5:p.Gln114Ter ENST00000372917.8:c.340C>T 6:g.42268768G>A SYS1_ENST00000372727 ENST00000372727.5 471 16162 T280091 2658282 2518441 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV54781519 COSM6795381 111684902 c.30G>A p.W10* Substitution - Nonsense 38 20:45363561-45363561 + - PATHOGENIC .94992 Confirmed somatic variant 27149842 NS NS 86.33 ENSP00000361812.1:p.Trp10Ter ENST00000372727.5:c.30G>A 20:g.45363561G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 2834132 2834132 2689916 skin mucosal anorectal NS malignant_melanoma NS NS NS y COSV104541792 COSM9334786 111210612 c.3994G>T p.E1332* Substitution - Nonsense 38 6:152442089-152442089 - - PATHOGENIC .95433 Variant of unknown origin 28296713 surgery - NOS primary 55 ENSP00000356222.4:p.Glu1332Ter ENST00000367253.8:c.3994G>T 6:g.152442089C>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 P544 2878333 2732848 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm diffuse_large_B_cell_lymphoma NS NS n COSV105355933 COSM9865754 138605043 c.529G>T p.E177* Substitution - Nonsense 38 3:78746754-78746754 - - PATHOGENIC .98771 Variant of unknown origin 32187361 surgery-fixed primary ENSP00000420637.1:p.Glu177Ter ENST00000495273.5:c.529G>T 3:g.78746754C>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-BS-A0UF-01 1783473 1687472 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV71391576 COSM1048613 138561656 c.3244C>T p.R1082* Substitution - Nonsense het 38 3:78634037-78634037 - - PATHOGENIC .93178 Variant of unknown origin 419 fresh/frozen - NOS primary 65 ENSP00000420637.1:p.Arg1082Ter ENST00000495273.5:c.3244C>T 3:g.78634037G>A FLNB_ENST00000295956 ENST00000295956.8 7809 3755 TCGA-EE-A2M8-06 2121674 1995910 skin NS NS NS malignant_melanoma NS NS NS y COSV99912828 COSM8031204 100476832 c.5765C>A p.S1922* Substitution - Nonsense 38 3:58148242-58148242 + - PATHOGENIC .98107 Confirmed somatic variant 540 NS NS 54 ENSP00000295956.4:p.Ser1922Ter ENST00000295956.8:c.5765C>A 3:g.58148242C>A FLNB_ENST00000295956 ENST00000295956.8 7809 3755 TCGA-EA-A556-01 2262714 2129698 cervix NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV55883332 COSM4828641 100500214 c.5137G>T p.E1713* Substitution - Nonsense 38 3:58141885-58141885 + - PATHOGENIC .70759 Confirmed somatic variant 415 NS primary 38 ENSP00000295956.4:p.Glu1713Ter ENST00000295956.8:c.5137G>T 3:g.58141885G>T TRERF1_ENST00000372917 ENST00000372917.8 2871 18273 pfg143T 2309675 2174877 stomach NS NS NS carcinoma intestinal_adenocarcinoma NS NS y COSV61668431 COSM4753687 112202311 c.2278C>T p.Q760* Substitution - Nonsense het 38 6:42236261-42236261 - - PATHOGENIC .97016 Confirmed somatic variant 24816253 surgery fresh/frozen NS 79 ENSP00000362008.5:p.Gln760Ter ENST00000372917.8:c.2278C>T 6:g.42236261G>A TRERF1_ENST00000372917 ENST00000372917.8 2871 18273 THCC_126T 2746773 2605476 liver NS NS NS other neoplasm NS NS y COSV61668271 COSM7199635 112209084 c.833C>G p.S278* Substitution - Nonsense 38 6:42268275-42268275 - - PATHOGENIC .92802 Confirmed somatic variant 323 NS primary 74 ENSP00000362008.5:p.Ser278Ter ENST00000372917.8:c.833C>G 6:g.42268275G>C NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 5-VS030-T1 2869850 2724847 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV105262317 COSM9650958 119143283 c.7072_7073delinsTA p.P2358* Substitution - Nonsense 38 12:124326313-124326314 - - Confirmed somatic variant 26950094 surgery fresh/frozen NS 87 ENSP00000384202.1:p.Pro2358Ter ENST00000404621.5:c.7072_7073delinsTA 12:g.124326313_124326314delinsTA NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 ID01 1820205 1719107 haematopoietic_and_lymphoid_tissue NS NS NS haematopoietic_neoplasm acute_myeloid_leukaemia NS NS n COSV62296660 COSM1166713 119154724 c.5578C>T p.Q1860* Substitution - Nonsense 38 12:124340085-124340085 - - PATHOGENIC .97042 Confirmed somatic variant 22976956 blood-bone marrow NS ENSP00000384202.1:p.Gln1860Ter ENST00000404621.5:c.5578C>T 12:g.124340085G>A SYS1_ENST00000372727 ENST00000372727.5 471 16162 TCGA-BR-4257-01 2197943 2066221 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV54782556 COSM4098824 111684370 c.259C>T p.R87* Substitution - Nonsense 38 20:45366903-45366903 + - PATHOGENIC .96088 Confirmed somatic variant 541 NS NS 79 ENSP00000361812.1:p.Arg87Ter ENST00000372727.5:c.259C>T 20:g.45366903C>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 587278 1766767 1671087 large_intestine colon NS NS carcinoma adenocarcinoma NS NS y COSV55075579 COSM1228153 111192142 c.4018A>T p.R1340* Substitution - Nonsense 38 6:152441261-152441261 - - PATHOGENIC .84036 Variant of unknown origin 22895193 surgery fresh/frozen primary ENSP00000356222.4:p.Arg1340Ter ENST00000367253.8:c.4018A>T 6:g.152441261T>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 DS-53317 2833710 2689519 large_intestine colon NS NS carcinoma adenocarcinoma NS NS n COSV104543051 COSM9354680 111225374 c.745G>T p.E249* Substitution - Nonsense 38 6:152505234-152505234 - - PATHOGENIC .98509 Variant of unknown origin 27302369 surgery fresh/frozen primary ENSP00000356222.4:p.Glu249Ter ENST00000367253.8:c.745G>T 6:g.152505234C>A POLR3E_ENST00000359210 ENST00000359210.8 2001 30347 TCGA-AR-A0TX-01 1899812 1788496 breast NS NS NS carcinoma NS NS NS y COSV55399971 COSM434899 107893008 c.1711C>T p.Q571* Substitution - Nonsense 38 16:22326123-22326123 + - PATHOGENIC .82905 Confirmed somatic variant 414 fresh/frozen - NOS primary 64 ENSP00000352140.4:p.Gln571Ter ENST00000359210.8:c.1711C>T 16:g.22326123C>T ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 2834130 2834130 2689914 skin mucosal anorectal NS malignant_melanoma NS NS NS y COSV104714588 COSM9323694 138583937 c.2835C>A p.C945* Substitution - Nonsense 38 3:78639811-78639811 - - PATHOGENIC .9612 Variant of unknown origin 28296713 surgery - NOS primary 59 ENSP00000420637.1:p.Cys945Ter ENST00000495273.5:c.2835C>A 3:g.78639811G>T FLNB_ENST00000295956 ENST00000295956.8 7809 3755 Thyroid-CN-WZ050T 2635111 2495507 thyroid NS NS NS carcinoma NS NS NS y COSV55885118 COSM2782479 100479432 c.4306C>T p.R1436* Substitution - Nonsense 38 3:58130824-58130824 + - PATHOGENIC .90693 Confirmed somatic variant 676 NS primary 49 ENSP00000295956.4:p.Arg1436Ter ENST00000295956.8:c.4306C>T 3:g.58130824C>T TRERF1_ENST00000372917 ENST00000372917.8 2871 18273 TCGA-90-7964-01 2195169 2063447 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV100551377 COSM8795575 112199000 c.757A>T p.R253* Substitution - Nonsense 38 6:42268351-42268351 - - PATHOGENIC .89972 Confirmed somatic variant 418 NS NS 70 ENSP00000362008.5:p.Arg253Ter ENST00000372917.8:c.757A>T 6:g.42268351T>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 Thyroid-CN-WZ031T 2635092 2495488 thyroid NS NS NS carcinoma NS NS NS y COSV62293478 COSM6376558 119152045 c.6605T>A p.L2202* Substitution - Nonsense 38 12:124333250-124333250 - - PATHOGENIC .85459 Confirmed somatic variant 676 NS primary 67 ENSP00000384202.1:p.Leu2202Ter ENST00000404621.5:c.6605T>A 12:g.124333250A>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 DS-50776 2833571 2689380 large_intestine colon NS NS carcinoma adenocarcinoma NS NS n COSV104543199 COSM9354612 111223855 c.2206G>T p.E736* Substitution - Nonsense 38 6:152462782-152462782 - - PATHOGENIC .9216 Variant of unknown origin 27302369 surgery fresh/frozen primary ENSP00000356222.4:p.Glu736Ter ENST00000367253.8:c.2206G>T 6:g.152462782C>A POLR3E_ENST00000359210 ENST00000359210.8 2001 30347 2857116 2857116 2712416 urinary_tract bladder NS NS carcinoma transitional_cell_carcinoma NS NS y COSV105171474 COSM9531951 107894692 c.766G>T p.E256* Substitution - Nonsense 38 16:22317032-22317032 + - PATHOGENIC .97804 Confirmed somatic variant 25096233 surgery - NOS NS ENSP00000352140.4:p.Glu256Ter ENST00000359210.8:c.766G>T 16:g.22317032G>T ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 5-WS010-T2 2869942 2724939 skin NS NS NS carcinoma basal_cell_carcinoma NS NS n COSV105355873 COSM9808769 138613549 c.3202C>T p.Q1068* Substitution - Nonsense 38 3:78635809-78635809 - - PATHOGENIC .99398 Variant of unknown origin 26950094 surgery - NOS NS ENSP00000420637.1:p.Gln1068Ter ENST00000495273.5:c.3202C>T 3:g.78635809G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 LUAD-YINHD 1765263 1669583 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV71398681 COSM350929 138597778 c.985G>T p.G329* Substitution - Nonsense 38 3:78688725-78688725 - - PATHOGENIC .98669 Variant of unknown origin 22980975 surgery - NOS primary 65 ENSP00000420637.1:p.Gly329Ter ENST00000495273.5:c.985G>T 3:g.78688725C>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 DLD1 2301972 2167255 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV71396931 COSM1264456 138562221 c.4720C>T p.Q1574* Substitution - Nonsense het 38 3:78600199-78600199 - - PATHOGENIC .93835 Variant of unknown origin 24755471 cell-line NS ENSP00000420637.1:p.Gln1574Ter ENST00000495273.5:c.4720C>T 3:g.78600199G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 HCT15 2301979 2167262 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV71396931 COSM1264456 138562221 c.4720C>T p.Q1574* Substitution - Nonsense het 38 3:78600199-78600199 - - PATHOGENIC .93835 Variant of unknown origin 24755471 cell-line NS ENSP00000420637.1:p.Gln1574Ter ENST00000495273.5:c.4720C>T 3:g.78600199G>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 SC_9109 2467425 2330256 prostate NS NS NS carcinoma NS NS NS y COSV62301978 COSM5563132 119154777 c.2962C>T p.Q988* Substitution - Nonsense het 38 12:124362210-124362210 - - PATHOGENIC .91951 Confirmed somatic variant 26000489 surgery - NOS metastasis 55 ENSP00000384202.1:p.Gln988Ter ENST00000404621.5:c.2962C>T 12:g.124362210G>A COLEC11_ENST00000349077 ENST00000349077.8 816 17213 TCGA-80-5608-01 1914079 1802361 lung right_upper_lobe NS NS carcinoma adenocarcinoma NS NS y COSV99363229 COSM7763881 107200842 c.277G>T p.E93* Substitution - Nonsense 38 2:3640280-3640280 + - PATHOGENIC .9068 Confirmed somatic variant 417 fresh/frozen - NOS primary ENSP00000339168.4:p.Glu93Ter ENST00000349077.8:c.277G>T 2:g.3640280G>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 SJHYPO042 2301067 2166348 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm acute_lymphoblastic_leukaemia NS NS y COSV54920772 COSM3621967 111204232 c.3130C>T p.R1044* Substitution - Nonsense 38 6:152451103-152451103 - - PATHOGENIC .90744 Reported in another cancer sample as somatic 638 NS NS ENSP00000356222.4:p.Arg1044Ter ENST00000367253.8:c.3130C>T 6:g.152451103G>A MDM4_ENST00000614459 ENST00000614459.4 1179 6974 W1T 2745038 2603741 thyroid NS NS NS carcinoma NS NS NS y COSV65796378 COSM6411607 168993207 c.460G>T p.G154* Substitution - Nonsense 38 1:204544616-204544616 + - PATHOGENIC .81993 Confirmed somatic variant 676 NS primary 64 ENSP00000482388.1:p.Gly154Ter ENST00000614459.4:c.460G>T 1:g.204544616G>T ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 HT115 2301987 2167270 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV71398617 COSM2827652 138607086 c.721G>T p.E241* Substitution - Nonsense het 38 3:78717354-78717354 - - PATHOGENIC .94682 Variant of unknown origin 24755471 cell-line NS ENSP00000420637.1:p.Glu241Ter ENST00000495273.5:c.721G>T 3:g.78717354C>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 P556 2878345 2732860 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm diffuse_large_B_cell_lymphoma NS NS n COSV105355951 COSM9865769 138607304 c.3556G>T p.E1186* Substitution - Nonsense 38 3:78627505-78627505 - - PATHOGENIC .99593 Variant of unknown origin 32187361 surgery-fixed primary ENSP00000420637.1:p.Glu1186Ter ENST00000495273.5:c.3556G>T 3:g.78627505C>A CDH6 ENST00000265071.2 2373 1765 EXTERN_MELA_20140526_049 2839350 2695116 skin shoulder NS NS malignant_melanoma NS NS NS y COSV104594495 COSM9402860 101105596 c.973C>T p.Q325* Substitution - Nonsense 38 5:31302272-31302272 + - PATHOGENIC .98625 Confirmed somatic variant 28467829 surgery fresh/frozen primary ENSP00000265071.2:p.Gln325Ter ENST00000265071.2:c.973C>T 5:g.31302272C>T NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 TCGA-19-5956-01 2178192 2046490 central_nervous_system brain NS NS glioma astrocytoma_Grade_IV glioblastoma_multiforme NS y COSV100657626 COSM7474207 119161748 c.6474C>A p.C2158* Substitution - Nonsense 38 12:124334525-124334525 - - PATHOGENIC .82116 Confirmed somatic variant 329 NS NS 53 ENSP00000384202.1:p.Cys2158Ter ENST00000404621.5:c.6474C>A 12:g.124334525G>T PAX9 ENST00000361487.6 1026 8623 Gp5D 2301974 2167257 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV64061264 COSM4627262 111521901 c.674G>A p.W225* Substitution - Nonsense het 38 14:36666504-36666504 + - PATHOGENIC .9881 Variant of unknown origin 24755471 cell-line NS ENSP00000355245.6:p.Trp225Ter ENST00000361487.6:c.674G>A 14:g.36666504G>A PAX9 ENST00000361487.6 1026 8623 Gp2D 2301973 2167256 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV64061264 COSM4627262 111521901 c.674G>A p.W225* Substitution - Nonsense het 38 14:36666504-36666504 + - PATHOGENIC .9881 Variant of unknown origin 24755471 cell-line NS ENSP00000355245.6:p.Trp225Ter ENST00000361487.6:c.674G>A 14:g.36666504G>A COLEC11_ENST00000349077 ENST00000349077.8 816 17213 TCGA-77-6845-01 2195156 2063434 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV52596121 COSM5025562 107205423 c.391C>T p.Q131* Substitution - Nonsense 38 2:3643506-3643506 + - PATHOGENIC .97767 Confirmed somatic variant 418 NS NS 69 ENSP00000339168.4:p.Gln131Ter ENST00000349077.8:c.391C>T 2:g.3643506C>T ZNF599_ENST00000587354 ENST00000587354.6 288 26408 CHG-13-09089T 2634309 2494705 liver NS NS NS other neoplasm NS NS y COSV61397812 COSM6252812 162375269 c.126C>A p.C42* Substitution - Nonsense 38 19:34769448-34769448 - - NEUTRAL .10998 Confirmed somatic variant 660 NS primary 67 ENSP00000468446.1:p.Cys42Ter ENST00000587354.6:c.126C>A 19:g.34769448G>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-86-6851-01 1914080 1802362 lung right_upper_lobe NS NS carcinoma adenocarcinoma NS NS y COSV54986905 COSM1441615 111180202 c.4402G>T p.E1468* Substitution - Nonsense 38 6:152433854-152433854 - - PATHOGENIC .94572 Reported in another cancer sample as somatic 417 fresh/frozen - NOS primary 73 ENSP00000356222.4:p.Glu1468Ter ENST00000367253.8:c.4402G>T 6:g.152433854C>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 pfg015T 1943743 1830653 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV55079735 COSM1642920 111190175 c.565C>T p.Q189* Substitution - Nonsense 38 6:152510209-152510209 - - PATHOGENIC .97158 Reported in another cancer sample as somatic 22037554 fresh/frozen - NOS NS ENSP00000356222.4:p.Gln189Ter ENST00000367253.8:c.565C>T 6:g.152510209G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 Gp5D 2301974 2167257 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV54929870 COSM3021443 111189490 c.529C>T p.Q177* Substitution - Nonsense het 38 6:152510245-152510245 - - PATHOGENIC .95014 Reported in another cancer sample as somatic 24755471 cell-line NS ENSP00000356222.4:p.Gln177Ter ENST00000367253.8:c.529C>T 6:g.152510245G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 HCC2998 2301977 2167260 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV54915173 COSM1672926 111170736 c.661C>T p.R221* Substitution - Nonsense het 38 6:152505318-152505318 - - PATHOGENIC .95524 Reported in another cancer sample as somatic 24755471 cell-line NS ENSP00000356222.4:p.Arg221Ter ENST00000367253.8:c.661C>T 6:g.152505318G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 COLO320-DM 2301969 2167252 large_intestine colon left NS carcinoma adenocarcinoma NS NS y COSV54928228 COSM1487379 111183881 c.4561C>T p.R1521* Substitution - Nonsense hom 38 6:152430610-152430610 - - PATHOGENIC .96907 Reported in another cancer sample as somatic 24755471 cell-line NS ENSP00000356222.4:p.Arg1521Ter ENST00000367253.8:c.4561C>T 6:g.152430610G>A POLR3E_ENST00000359210 ENST00000359210.8 2001 30347 TCGA-55-8089-01 1914032 1802314 lung right_upper_lobe NS NS carcinoma adenocarcinoma NS NS y COSV100242414 COSM7781091 107892229 c.580G>T p.E194* Substitution - Nonsense 38 16:22315146-22315146 + - PATHOGENIC .97803 Confirmed somatic variant 417 fresh/frozen - NOS primary 56 ENSP00000352140.4:p.Glu194Ter ENST00000359210.8:c.580G>T 16:g.22315146G>T ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-AP-A059-01 1783335 1687334 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV71397917 COSM1048664 138560994 c.1713G>A p.W571* Substitution - Nonsense het 38 3:78668028-78668028 - - PATHOGENIC .98328 Variant of unknown origin 419 fresh/frozen - NOS primary 69 ENSP00000420637.1:p.Trp571Ter ENST00000495273.5:c.1713G>A 3:g.78668028C>T ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 NPC0001PT00264T00264 2857327 2712627 upper_aerodigestive_tract pharynx nasopharynx NS carcinoma nasopharyngeal_carcinoma non_keratinizing NS y COSV105355911 COSM9543315 138612154 c.2054C>G p.S685* Substitution - Nonsense 38 3:78661188-78661188 - - PATHOGENIC .91011 Variant of unknown origin 28851814 surgery-fixed primary ENSP00000420637.1:p.Ser685Ter ENST00000495273.5:c.2054C>G 3:g.78661188G>C PAX9 ENST00000361487.6 1026 8623 TCGA-DU-6407-02 2185941 2054238 central_nervous_system brain NS NS glioma NS NS NS y COSV100825889 COSM8263895 111521997 c.299G>A p.W100* Substitution - Nonsense 38 14:36663191-36663191 + - PATHOGENIC .99308 Confirmed somatic variant 545 NS NS 35 ENSP00000355245.6:p.Trp100Ter ENST00000361487.6:c.299G>A 14:g.36663191G>A PAX9 ENST00000361487.6 1026 8623 2014_Lung_sq_83_T 2744954 2603657 lung NS NS NS carcinoma NS NS NS y COSV64062457 COSM3956013 111522068 c.439C>T p.Q147* Substitution - Nonsense 38 14:36663331-36663331 + - PATHOGENIC .98676 Confirmed somatic variant 583 NS primary 72 ENSP00000355245.6:p.Gln147Ter ENST00000361487.6:c.439C>T 14:g.36663331C>T ZNF599_ENST00000587354 ENST00000587354.6 288 26408 TCGA-06-2566-01 2178226 2046524 central_nervous_system brain NS NS glioma astrocytoma_Grade_IV glioblastoma_multiforme NS y COSV100251076 COSM7488987 162375023 c.190G>T p.G64* Substitution - Nonsense 38 19:34767367-34767367 - - NEUTRAL .05476 Confirmed somatic variant 329 NS NS 23 ENSP00000468446.1:p.Gly64Ter ENST00000587354.6:c.190G>T 19:g.34767367C>A MDM4_ENST00000614459 ENST00000614459.4 1179 6974 P-0000532-T02-IM5 2719360 2578181 breast NS NS NS carcinoma ductolobular_carcinoma NS NS n COSV65796238 COSM6937100 168995112 c.929C>G p.S310* Substitution - Nonsense het 38 1:204549432-204549432 + - PATHOGENIC .92573 Confirmed somatic variant 28481359 surgery - NOS metastasis ENSP00000482388.1:p.Ser310Ter ENST00000614459.4:c.929C>G 1:g.204549432C>G LRRC41_ENST00000343304 ENST00000343304.10 2439 16917 H324 2776278 2634414 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV99071375 COSM7375601 107569059 c.829C>T p.R277* Substitution - Nonsense 38 1:46286028-46286028 - - PATHOGENIC .95974 Variant of unknown origin 29681454 NS NS 63 ENSP00000343298.6:p.Arg277Ter ENST00000343304.10:c.829C>T 1:g.46286028G>A POLR3E_ENST00000359210 ENST00000359210.8 2001 30347 EXTERN_MELA_20140924_082 2839391 2695157 skin scalp NS NS malignant_melanoma NS NS NS y COSV104607742 COSM9393664 107891059 c.943C>T p.Q315* Substitution - Nonsense 38 16:22318903-22318903 + - PATHOGENIC .94279 Confirmed somatic variant 28467829 surgery fresh/frozen primary ENSP00000352140.4:p.Gln315Ter ENST00000359210.8:c.943C>T 16:g.22318903C>T ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 RKO 2302003 2167286 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV71391576 COSM1048613 138561656 c.3244C>T p.R1082* Substitution - Nonsense het 38 3:78634037-78634037 - - PATHOGENIC .93178 Variant of unknown origin 24755471 cell-line NS ENSP00000420637.1:p.Arg1082Ter ENST00000495273.5:c.3244C>T 3:g.78634037G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 2834132 2834132 2689916 skin mucosal anorectal NS malignant_melanoma NS NS NS y COSV104714532 COSM9334557 138599060 c.4351C>T p.Q1451* Substitution - Nonsense 38 3:78606991-78606991 - - PATHOGENIC .99151 Variant of unknown origin 28296713 surgery - NOS primary 55 ENSP00000420637.1:p.Gln1451Ter ENST00000495273.5:c.4351C>T 3:g.78606991G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 LNCaP104S 2580129 2441466 prostate NS NS NS carcinoma adenocarcinoma NS NS n COSV71392559 COSM2827600 138558891 c.1051G>T p.E351* Substitution - Nonsense 38 3:78688659-78688659 - - PATHOGENIC .98727 Variant of unknown origin 20579941 cell-line NS ENSP00000420637.1:p.Glu351Ter ENST00000495273.5:c.1051G>T 3:g.78688659C>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 T262114 2658577 2518736 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV62301379 COSM6723329 119142271 c.541C>T p.R181* Substitution - Nonsense 38 12:124473002-124473002 - - PATHOGENIC .98085 Confirmed somatic variant 27149842 NS NS 84.5 ENSP00000384202.1:p.Arg181Ter ENST00000404621.5:c.541C>T 12:g.124473002G>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 2879177 2879177 2733672 skin NS NS NS malignant_melanoma NS NS NS n COSV62301379 COSM6723329 119142271 c.541C>T p.R181* Substitution - Nonsense 38 12:124473002-124473002 - - PATHOGENIC .98085 Confirmed somatic variant 24265155 surgery - NOS metastasis 47 ENSP00000384202.1:p.Arg181Ter ENST00000404621.5:c.541C>T 12:g.124473002G>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 CHG-13-29153T 2634325 2494721 liver NS NS NS other neoplasm NS NS y COSV62301995 COSM6320218 119141640 c.4920C>A p.Y1640* Substitution - Nonsense 38 12:124342061-124342061 - - PATHOGENIC .96501 Confirmed somatic variant 660 NS primary 49 ENSP00000384202.1:p.Tyr1640Ter ENST00000404621.5:c.4920C>A 12:g.124342061G>T PAX9 ENST00000361487.6 1026 8623 TCGA-XK-AAIW-01 2339713 2204696 prostate NS NS NS carcinoma adenocarcinoma NS NS y COSV100492603 COSM9090975 111523780 c.907C>T p.Q303* Substitution - Nonsense 38 14:36676333-36676333 + - PATHOGENIC .98088 Confirmed somatic variant 435 NS primary 78 ENSP00000355245.6:p.Gln303Ter ENST00000361487.6:c.907C>T 14:g.36676333C>T ZNF599_ENST00000587354 ENST00000587354.6 288 26408 MO_1160 2637734 2498107 skin NS NS NS carcinoma Merkel_cell_carcinoma NS NS y COSV61397837 COSM6439928 162375385 c.88C>T p.Q30* Substitution - Nonsense 38 19:34769486-34769486 - - PATHOGENIC .9124 Confirmed somatic variant 26238782 surgery fresh/frozen metastasis 66 ENSP00000468446.1:p.Gln30Ter ENST00000587354.6:c.88C>T 19:g.34769486G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 DS-50776 2833571 2689380 large_intestine colon NS NS carcinoma adenocarcinoma NS NS n COSV99559680 COSM7601631 111223803 c.3715G>T p.E1239* Substitution - Nonsense 38 6:152444533-152444533 - - PATHOGENIC .99106 Reported in another cancer sample as somatic 27302369 surgery fresh/frozen primary ENSP00000356222.4:p.Glu1239Ter ENST00000367253.8:c.3715G>T 6:g.152444533C>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 S00944 1759215 1663963 lung NS NS NS carcinoma small_cell_carcinoma NS NS n COSV55061084 COSM315723 111189394 c.4016T>G p.L1339* Substitution - Nonsense 38 6:152441263-152441263 - - PATHOGENIC .98953 Reported in another cancer sample as somatic 22941188 fresh/frozen - NOS NS ENSP00000356222.4:p.Leu1339Ter ENST00000367253.8:c.4016T>G 6:g.152441263A>C ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 LNM971 2580124 2441461 prostate NS NS NS carcinoma adenocarcinoma NS NS n COSV71392559 COSM2827600 138558891 c.1051G>T p.E351* Substitution - Nonsense 38 3:78688659-78688659 - - PATHOGENIC .98727 Variant of unknown origin 20579941 xenograft NS ENSP00000420637.1:p.Glu351Ter ENST00000495273.5:c.1051G>T 3:g.78688659C>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 LNCaP 2580128 2441465 prostate NS NS NS carcinoma adenocarcinoma NS NS n COSV71392559 COSM2827600 138558891 c.1051G>T p.E351* Substitution - Nonsense 38 3:78688659-78688659 - - PATHOGENIC .98727 Variant of unknown origin 20579941 cell-line NS ENSP00000420637.1:p.Glu351Ter ENST00000495273.5:c.1051G>T 3:g.78688659C>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-66-2777-01 1782765 1686764 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV71394997 COSM731529 138584278 c.413C>A p.S138* Substitution - Nonsense 38 3:78746870-78746870 - - PATHOGENIC .98133 Variant of unknown origin 418 fresh/frozen - NOS primary 71 ENSP00000420637.1:p.Ser138Ter ENST00000495273.5:c.413C>A 3:g.78746870G>T FLNB_ENST00000295956 ENST00000295956.8 7809 3755 T2269 2658232 2518391 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV55887760 COSM4684965 100485505 c.5593G>T p.E1865* Substitution - Nonsense 38 3:58146858-58146858 + - PATHOGENIC .97765 Confirmed somatic variant 27149842 NS NS 73 ENSP00000295956.4:p.Glu1865Ter ENST00000295956.8:c.5593G>T 3:g.58146858G>T TRERF1_ENST00000372917 ENST00000372917.8 2871 18273 W20T 2745050 2603753 thyroid NS NS NS carcinoma NS NS NS y COSV61666762 COSM3921790 112196563 c.655C>T p.Q219* Substitution - Nonsense 38 6:42268453-42268453 - - PATHOGENIC .98605 Confirmed somatic variant 676 NS primary 29 ENSP00000362008.5:p.Gln219Ter ENST00000372917.8:c.655C>T 6:g.42268453G>A TRERF1_ENST00000372917 ENST00000372917.8 2871 18273 PT19_1 2521271 2383614 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV61673494 COSM5899531 112198219 c.2863G>T p.E955* Substitution - Nonsense 38 6:42228353-42228353 - - PATHOGENIC .99242 Confirmed somatic variant 25759019 surgery fresh/frozen NS ENSP00000362008.5:p.Glu955Ter ENST00000372917.8:c.2863G>T 6:g.42228353C>A CDH6 ENST00000265071.2 2373 1765 TCGA-AA-3821-01 1651040 1565827 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS y COSV54065281 COSM294229 101110331 c.1345G>T p.E449* Substitution - Nonsense 38 5:31313409-31313409 + - PATHOGENIC .99432 Confirmed somatic variant 22810696 376 NS NS 81 ENSP00000265071.2:p.Glu449Ter ENST00000265071.2:c.1345G>T 5:g.31313409G>T CDH6 ENST00000265071.2 2373 1765 3N27-VS-3T27 2582911 2444166 oesophagus NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV54063694 COSM1436985 101096328 c.2065C>T p.R689* Substitution - Nonsense 38 5:31323000-31323000 + - PATHOGENIC .83309 Confirmed somatic variant 26759717 surgery - NOS NS 48 ENSP00000265071.2:p.Arg689Ter ENST00000265071.2:c.2065C>T 5:g.31323000C>T PAX9 ENST00000361487.6 1026 8623 TCGA-BR-8486-01 2197958 2066236 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV64062407 COSM4050721 111521839 c.100C>T p.Q34* Substitution - Nonsense 38 14:36662992-36662992 + - PATHOGENIC .98421 Confirmed somatic variant 541 NS NS 90 ENSP00000355245.6:p.Gln34Ter ENST00000361487.6:c.100C>T 14:g.36662992C>T PAX9 ENST00000361487.6 1026 8623 3844_T 2194987 2063265 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV64062457 COSM3956013 111522068 c.439C>T p.Q147* Substitution - Nonsense 38 14:36663331-36663331 + - PATHOGENIC .98676 Confirmed somatic variant 583 NS NS ENSP00000355245.6:p.Gln147Ter ENST00000361487.6:c.439C>T 14:g.36663331C>T CRY1 ENST00000008527.9 1761 2384 TCGA-AB-2804-03 1650296 1565083 haematopoietic_and_lymphoid_tissue NS NS NS haematopoietic_neoplasm acute_myeloid_leukaemia NS NS y COSV50483736 COSM1318063 96939028 c.891T>A p.Y297* Substitution - Nonsense het 38 12:106999797-106999797 - - PATHOGENIC .88174 Variant of unknown origin 377 blood-bone marrow NS 30 ENSP00000008527.5:p.Tyr297Ter ENST00000008527.9:c.891T>A 12:g.106999797A>T CRY1 ENST00000008527.9 1761 2384 TCGA-AX-A0J0-01 1783376 1687375 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV50484369 COSM934487 96941465 c.367G>T p.E123* Substitution - Nonsense het 38 12:107005149-107005149 - - PATHOGENIC .98943 Variant of unknown origin 419 fresh/frozen - NOS primary 47 ENSP00000008527.5:p.Glu123Ter ENST00000008527.9:c.367G>T 12:g.107005149C>A CRY1 ENST00000008527.9 1761 2384 H157 2776238 2634374 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99076205 COSM7362755 96940665 c.931G>T p.G311* Substitution - Nonsense 38 12:106999757-106999757 - - PATHOGENIC .94231 Variant of unknown origin 29681454 NS NS 59 ENSP00000008527.5:p.Gly311Ter ENST00000008527.9:c.931G>T 12:g.106999757C>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-XF-AAML-01 2340251 2205234 urinary_tract bladder NS NS carcinoma NS NS NS y COSV99553597 COSM7656552 111225033 c.2506G>T p.E836* Substitution - Nonsense 38 6:152458819-152458819 - - .62137 Confirmed somatic variant 413 NS primary 75 ENSP00000356222.4:p.Glu836Ter ENST00000367253.8:c.2506G>T 6:g.152458819C>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 MSU2-a 2809971 2666633 large_intestine caecum NS NS adenoma villous NS NS y COSV99584526 COSM9175336 111182296 c.253C>T p.R85* Substitution - Nonsense 38 6:152520515-152520515 - - PATHOGENIC .94612 Confirmed somatic variant 26336987 surgery fresh/frozen primary 66 ENSP00000356222.4:p.Arg85Ter ENST00000367253.8:c.253C>T 6:g.152520515G>A LRRC41_ENST00000343304 ENST00000343304.10 2439 16917 TCGA-GU-A42R-01 2193259 2061537 urinary_tract bladder NS NS carcinoma NS NS NS y COSV100586485 COSM7649322 107568249 c.925G>T p.E309* Substitution - Nonsense 38 1:46285932-46285932 - - PATHOGENIC .91556 Confirmed somatic variant 413 NS NS 68 ENSP00000343298.6:p.Glu309Ter ENST00000343304.10:c.925G>T 1:g.46285932C>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 LUAD-NYU1219 1765242 1669562 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV71394496 COSM370093 138608795 c.346G>T p.E116* Substitution - Nonsense 38 3:78938637-78938637 - - PATHOGENIC .96563 Variant of unknown origin 22980975 surgery - NOS primary 77 ENSP00000420637.1:p.Glu116Ter ENST00000495273.5:c.346G>T 3:g.78938637C>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 ESO-K08 1890980 1780349 oesophagus NS NS NS carcinoma adenocarcinoma NS NS y COSV71396931 COSM1264456 138562221 c.4720C>T p.Q1574* Substitution - Nonsense 38 3:78600199-78600199 - - PATHOGENIC .93835 Variant of unknown origin 23525077 surgery fresh/frozen primary 63 ENSP00000420637.1:p.Gln1574Ter ENST00000495273.5:c.4720C>T 3:g.78600199G>A TRERF1_ENST00000372917 ENST00000372917.8 2871 18273 TCGA-BF-AAP2-01 2380417 2243249 skin NS NS NS malignant_melanoma NS NS NS y COSV100550819 COSM8124149 112201739 c.1651C>T p.Q551* Substitution - Nonsense 38 6:42257056-42257056 - - PATHOGENIC .9116 Confirmed somatic variant 540 NS primary 62 ENSP00000362008.5:p.Gln551Ter ENST00000372917.8:c.1651C>T 6:g.42257056G>A PAX9 ENST00000361487.6 1026 8623 TCGA-P3-A5Q6-01 2193639 2061917 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV100825911 COSM8348196 111522342 c.480C>A p.Y160* Substitution - Nonsense 38 14:36663372-36663372 + - PATHOGENIC .95858 Confirmed somatic variant 627 NS NS 49 ENSP00000355245.6:p.Tyr160Ter ENST00000361487.6:c.480C>A 14:g.36663372C>A PAX9 ENST00000361487.6 1026 8623 T267922 2658244 2518403 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV64061475 COSM6738298 111523452 c.429C>G p.Y143* Substitution - Nonsense 38 14:36663321-36663321 + - PATHOGENIC .9591 Confirmed somatic variant 27149842 NS NS 76.91 ENSP00000355245.6:p.Tyr143Ter ENST00000361487.6:c.429C>G 14:g.36663321C>G PAX9 ENST00000361487.6 1026 8623 TCGA-B5-A1MR-01 2198376 2066654 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV58721264 COSM6846717 111522975 c.991G>T p.E331* Substitution - Nonsense 38 14:36676417-36676417 + - PATHOGENIC .99736 Confirmed somatic variant 419 NS NS 65 ENSP00000355245.6:p.Glu331Ter ENST00000361487.6:c.991G>T 14:g.36676417G>T CRY1 ENST00000008527.9 1761 2384 GBC_22 2907868 2762051 biliary_tract gallbladder NS NS carcinoma adenocarcinoma NS NS y COSV105835275 COSM10042586 96940452 c.325C>T p.R109* Substitution - Nonsense 38 12:107005191-107005191 - - PATHOGENIC .94749 Variant of unknown origin 33563892 surgery-fixed NS 62 ENSP00000008527.5:p.Arg109Ter ENST00000008527.9:c.325C>T 12:g.107005191G>A CRY1 ENST00000008527.9 1761 2384 2834130 2834130 2689914 skin mucosal anorectal NS malignant_melanoma NS NS NS y COSV50482063 COSM6635803 96940300 c.199C>T p.R67* Substitution - Nonsense 38 12:107022152-107022152 - - PATHOGENIC .89501 Reported in another cancer sample as somatic 28296713 surgery - NOS primary 59 ENSP00000008527.5:p.Arg67Ter ENST00000008527.9:c.199C>T 12:g.107022152G>A CRY1 ENST00000008527.9 1761 2384 321-01-1TD 1921477 1808795 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma NS NS y COSV50484161 COSM145269 96939066 c.1099C>T p.R367* Substitution - Nonsense 38 12:106999589-106999589 - - PATHOGENIC .90463 Reported in another cancer sample as somatic 340 blood NS ENSP00000008527.5:p.Arg367Ter ENST00000008527.9:c.1099C>T 12:g.106999589G>A CRY1 ENST00000008527.9 1761 2384 ESCC_6 2479518 2342278 oesophagus NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV50489275 COSM5623328 96939980 c.1477C>T p.R493* Substitution - Nonsense 38 12:106997503-106997503 - - PATHOGENIC .93795 Confirmed somatic variant 26873401 NS NS 64 ENSP00000008527.5:p.Arg493Ter ENST00000008527.9:c.1477C>T 12:g.106997503G>A MDM4_ENST00000614459 ENST00000614459.4 1179 6974 s_DS_scb_09_tumour 2861580 2716816 urinary_tract bladder NS NS carcinoma small_cell_carcinoma NS NS n COSV105295051 COSM9580500 168997170 c.356C>G p.S119* Substitution - Nonsense 38 1:204542922-204542922 + - PATHOGENIC .99451 Confirmed somatic variant 29180607 surgery-fixed NS 70 ENSP00000482388.1:p.Ser119Ter ENST00000614459.4:c.356C>G 1:g.204542922C>G LRRC41_ENST00000343304 ENST00000343304.10 2439 16917 TCGA-FD-A62O-01 2193277 2061555 urinary_tract bladder NS NS carcinoma NS NS NS y COSV100586223 COSM7647247 107568877 c.1544C>G p.S515* Substitution - Nonsense 38 1:46281337-46281337 - - PATHOGENIC .98565 Confirmed somatic variant 413 NS NS 74 ENSP00000343298.6:p.Ser515Ter ENST00000343304.10:c.1544C>G 1:g.46281337G>C POLR3E_ENST00000359210 ENST00000359210.8 2001 30347 TCGA-Z2-AA3S-06 2339476 2204459 skin NS NS NS malignant_melanoma NS NS NS y COSV100241951 COSM7900982 107892903 c.298C>T p.Q100* Substitution - Nonsense 38 16:22309444-22309444 + - PATHOGENIC .96753 Confirmed somatic variant 540 NS NS 58 ENSP00000352140.4:p.Gln100Ter ENST00000359210.8:c.298C>T 16:g.22309444C>T ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 HCT8 2301980 2167263 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV71396931 COSM1264456 138562221 c.4720C>T p.Q1574* Substitution - Nonsense het 38 3:78600199-78600199 - - PATHOGENIC .93835 Variant of unknown origin 24755471 cell-line NS ENSP00000420637.1:p.Gln1574Ter ENST00000495273.5:c.4720C>T 3:g.78600199G>A CDH6 ENST00000265071.2 2373 1765 5-NB016-T1 2869816 2724813 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV105001144 COSM9665981 101099407 c.964C>T p.Q322* Substitution - Nonsense 38 5:31302263-31302263 + - PATHOGENIC .83394 Confirmed somatic variant 26950094 surgery fresh/frozen NS 74 ENSP00000265071.2:p.Gln322Ter ENST00000265071.2:c.964C>T 5:g.31302263C>T PAX9 ENST00000361487.6 1026 8623 T1212 2658245 2518404 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV64061648 COSM6738293 111521541 c.175C>T p.R59* Substitution - Nonsense 38 14:36663067-36663067 + - PATHOGENIC .97069 Confirmed somatic variant 27149842 NS NS 67 ENSP00000355245.6:p.Arg59Ter ENST00000361487.6:c.175C>T 14:g.36663067C>T CRY1 ENST00000008527.9 1761 2384 TCGA-12-0829-01 2178136 2046434 central_nervous_system brain NS NS glioma astrocytoma_Grade_IV glioblastoma_multiforme NS y COSV99151062 COSM7458197 96939587 c.829A>T p.K277* Substitution - Nonsense 38 12:106999859-106999859 - - PATHOGENIC .98186 Confirmed somatic variant 329 NS NS 75 ENSP00000008527.5:p.Lys277Ter ENST00000008527.9:c.829A>T 12:g.106999859T>A CRY1 ENST00000008527.9 1761 2384 SWE-33 1862719 1753610 prostate NS NS NS adenoma NS NS NS y COSV50481923 COSM1179653 96938927 c.766C>T p.R256* Substitution - Nonsense 38 12:107000001-107000001 - - PATHOGENIC .99319 Confirmed somatic variant 23265383 NS NS ENSP00000008527.5:p.Arg256Ter ENST00000008527.9:c.766C>T 12:g.107000001G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-B0-4844-01 2120436 1994672 kidney NS NS NS carcinoma clear_cell_renal_cell_carcinoma NS NS y COSV54913761 COSM3366224 111174922 c.2536C>T p.Q846* Substitution - Nonsense 38 6:152458789-152458789 - - PATHOGENIC .94392 Confirmed somatic variant 416 NS NS 60 ENSP00000356222.4:p.Gln846Ter ENST00000367253.8:c.2536C>T 6:g.152458789G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 P133 2368492 2231296 large_intestine NS NS NS carcinoma adenocarcinoma NS NS n COSV54973248 COSM5010164 111205172 c.4213G>T p.E1405* Substitution - Nonsense 38 6:152436038-152436038 - - PATHOGENIC .98633 Confirmed somatic variant 24951259 fresh/frozen - NOS primary 69 ENSP00000356222.4:p.Glu1405Ter ENST00000367253.8:c.4213G>T 6:g.152436038C>A LRRC41_ENST00000343304 ENST00000343304.10 2439 16917 4 2239199 2106731 biliary_tract bile_duct NS NS carcinoma adenocarcinoma NS NS y COSV58441725 COSM4333272 107570140 c.719C>G p.S240* Substitution - Nonsense 38 1:46286138-46286138 - - PATHOGENIC .95867 Confirmed somatic variant 24550739 fresh/frozen - NOS NS 62 ENSP00000343298.6:p.Ser240Ter ENST00000343304.10:c.719C>G 1:g.46286138G>C LRRC41_ENST00000343304 ENST00000343304.10 2439 16917 GC13 2896794 2751142 placenta NS NS NS choriocarcinoma NS NS NS y COSV105915398 COSM9949467 107567352 c.2020G>T p.E674* Substitution - Nonsense 38 1:46280192-46280192 - - PATHOGENIC .97943 Confirmed somatic variant 33319857 surgery-fixed metastasis 39 ENSP00000343298.6:p.Glu674Ter ENST00000343304.10:c.2020G>T 1:g.46280192C>A POLR3E_ENST00000359210 ENST00000359210.8 2001 30347 TCGA-C5-A1MH-01 2193406 2061684 cervix NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV55403564 COSM4821106 107891420 c.1405C>T p.Q469* Substitution - Nonsense 38 16:22325817-22325817 + - PATHOGENIC .89097 Confirmed somatic variant 415 NS NS 71 ENSP00000352140.4:p.Gln469Ter ENST00000359210.8:c.1405C>T 16:g.22325817C>T ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 5-GE051-T1 2869765 2724762 skin NS NS NS carcinoma basal_cell_carcinoma NS NS n COSV101458322 COSM8643981 138560129 c.3574C>T p.R1192* Substitution - Nonsense 38 3:78627487-78627487 - - PATHOGENIC .85965 Reported in another cancer sample as somatic 26950094 surgery - NOS NS 65 ENSP00000420637.1:p.Arg1192Ter ENST00000495273.5:c.3574C>T 3:g.78627487G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 P806 2878595 2733110 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm diffuse_large_B_cell_lymphoma NS NS n COSV71392199 COSM6205002 138576512 c.181G>T p.E61* Substitution - Nonsense 38 3:78938802-78938802 - - PATHOGENIC .97507 Reported in another cancer sample as somatic 32187361 surgery-fixed primary ENSP00000420637.1:p.Glu61Ter ENST00000495273.5:c.181G>T 3:g.78938802C>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 5-GE029-T1 2869750 2724747 skin NS NS NS carcinoma basal_cell_carcinoma NS NS n COSV101459531 COSM9022989 138600551 c.1393C>T p.R465* Substitution - Nonsense 38 3:78670143-78670143 - - PATHOGENIC .95351 Reported in another cancer sample as somatic 26950094 surgery - NOS NS 89 ENSP00000420637.1:p.Arg465Ter ENST00000495273.5:c.1393C>T 3:g.78670143G>A TRERF1_ENST00000372917 ENST00000372917.8 2871 18273 TCGA-BL-A0C8-01 1779226 1683225 urinary_tract bladder NS NS carcinoma NS NS NS y COSV100551895 COSM421312 112210170 c.709C>T p.Q237* Substitution - Nonsense 38 6:42268399-42268399 - - PATHOGENIC .99065 Confirmed somatic variant 413 fresh/frozen - NOS primary 73 ENSP00000362008.5:p.Gln237Ter ENST00000372917.8:c.709C>T 6:g.42268399G>A CCDC12 ENST00000292314.6 540 28332 TCGA-C5-A1BF-01 2193355 2061633 cervix NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV52765808 COSM4836753 98012600 c.142G>T p.E48* Substitution - Nonsense 38 3:46941059-46941059 - - PATHOGENIC .75327 Confirmed somatic variant 415 NS NS 46 ENSP00000292314.2:p.Glu48Ter ENST00000292314.6:c.142G>T 3:g.46941059C>A CRY1 ENST00000008527.9 1761 2384 TCGA-ER-A19P-06 2121726 1995962 skin NS NS NS malignant_melanoma NS NS NS y COSV50491193 COSM3455543 96940246 c.295G>T p.E99* Substitution - Nonsense 38 12:107005221-107005221 - - PATHOGENIC .99083 Confirmed somatic variant 540 NS NS 47 ENSP00000008527.5:p.Glu99Ter ENST00000008527.9:c.295G>T 12:g.107005221C>A CRY1 ENST00000008527.9 1761 2384 CHG-2011-508T 2634354 2494750 liver NS NS NS other neoplasm NS NS y COSV50481350 COSM1945276 96939756 c.690G>A p.W230* Substitution - Nonsense 38 12:107000077-107000077 - - PATHOGENIC .99778 Confirmed somatic variant 660 NS primary 70 ENSP00000008527.5:p.Trp230Ter ENST00000008527.9:c.690G>A 12:g.107000077C>T CRY1 ENST00000008527.9 1761 2384 CSB22 2373551 2236344 breast NS NS NS carcinoma luminal_NS_carcinoma NS NS n COSV50481212 COSM5027685 96941866 c.1056G>A p.W352* Substitution - Nonsense 38 12:106999632-106999632 - - PATHOGENIC .97949 Confirmed somatic variant 22722193 NS NS ENSP00000008527.5:p.Trp352Ter ENST00000008527.9:c.1056G>A 12:g.106999632C>T LRRC41_ENST00000343304 ENST00000343304.10 2439 16917 2857108 2857108 2712408 urinary_tract bladder NS NS carcinoma transitional_cell_carcinoma NS NS y COSV100586223 COSM7647247 107568877 c.1544C>G p.S515* Substitution - Nonsense 38 1:46281337-46281337 - - PATHOGENIC .98565 Confirmed somatic variant 25096233 surgery - NOS NS ENSP00000343298.6:p.Ser515Ter ENST00000343304.10:c.1544C>G 1:g.46281337G>C ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-A5-A0VP-01 1783327 1687326 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV71394851 COSM1048689 138567890 c.466C>T p.R156* Substitution - Nonsense het 38 3:78746817-78746817 - - PATHOGENIC .90585 Reported in another cancer sample as somatic 419 fresh/frozen - NOS primary 74 ENSP00000420637.1:p.Arg156Ter ENST00000495273.5:c.466C>T 3:g.78746817G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-A5-A0VP-01 1783327 1687326 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV71394846 COSM1048564 138567865 c.4573C>T p.R1525* Substitution - Nonsense het 38 3:78606769-78606769 - - PATHOGENIC .95268 Reported in another cancer sample as somatic 419 fresh/frozen - NOS primary 74 ENSP00000420637.1:p.Arg1525Ter ENST00000495273.5:c.4573C>T 3:g.78606769G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-AP-A0LM-01 1783352 1687351 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV71394047 COSM1048634 138559722 c.2431C>T p.R811* Substitution - Nonsense het 38 3:78657173-78657173 - - PATHOGENIC .97975 Reported in another cancer sample as somatic 419 fresh/frozen - NOS primary 33 ENSP00000420637.1:p.Arg811Ter ENST00000495273.5:c.2431C>T 3:g.78657173G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-AX-A0J0-01 1783376 1687375 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV71395871 COSM1048679 138568533 c.1264C>T p.R422* Substitution - Nonsense het 38 3:78670272-78670272 - - PATHOGENIC .98975 Reported in another cancer sample as somatic 419 fresh/frozen - NOS primary 47 ENSP00000420637.1:p.Arg422Ter ENST00000495273.5:c.1264C>T 3:g.78670272G>A FLNB_ENST00000295956 ENST00000295956.8 7809 3755 TCGA-BR-A4CS-01 2198127 2066405 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV55872193 COSM4119630 100492559 c.5842C>T p.R1948* Substitution - Nonsense 38 3:58148319-58148319 + - PATHOGENIC .96793 Confirmed somatic variant 541 NS NS 77 ENSP00000295956.4:p.Arg1948Ter ENST00000295956.8:c.5842C>T 3:g.58148319C>T PAX9 ENST00000361487.6 1026 8623 HUB-02-B2-082 2607132 2466844 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV64062348 COSM6040155 111521873 c.112C>T p.R38* Substitution - Nonsense 38 14:36663004-36663004 + - PATHOGENIC .92069 Confirmed somatic variant 670 organoid culture NS ENSP00000355245.6:p.Arg38Ter ENST00000361487.6:c.112C>T 14:g.36663004C>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 CDGLIV0709A0255_T 2390324 2253156 liver NS NS NS carcinoma hepatocellular_carcinoma NS NS y COSV55112666 COSM5039007 111188737 c.4630G>T p.E1544* Substitution - Nonsense 38 6:152430541-152430541 - - PATHOGENIC .88983 Confirmed somatic variant 25159915 NS NS ENSP00000356222.4:p.Glu1544Ter ENST00000367253.8:c.4630G>T 6:g.152430541C>A MDM4_ENST00000614459 ENST00000614459.4 1179 6974 P-0000532-T02-IM5 2829213 2685028 breast NS NS NS carcinoma ductolobular_carcinoma NS NS n COSV65796238 COSM6937100 168995112 c.929C>G p.S310* Substitution - Nonsense 38 1:204549432-204549432 + - PATHOGENIC .92573 Confirmed somatic variant 30205045 surgery-fixed metastasis 39 ENSP00000482388.1:p.Ser310Ter ENST00000614459.4:c.929C>G 1:g.204549432C>G ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 587228 1766751 1671071 large_intestine colon NS NS carcinoma adenocarcinoma NS NS y COSV71396838 COSM1224052 138570472 c.3850G>T p.E1284* Substitution - Nonsense 38 3:78617932-78617932 - - PATHOGENIC .98645 Reported in another cancer sample as somatic 22895193 surgery fresh/frozen primary ENSP00000420637.1:p.Glu1284Ter ENST00000495273.5:c.3850G>T 3:g.78617932C>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-AX-A05Z-01 1783365 1687364 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV71392075 COSM1048554 138559994 c.4735C>T p.R1579* Substitution - Nonsense het 38 3:78600184-78600184 - - PATHOGENIC .96046 Reported in another cancer sample as somatic 419 fresh/frozen - NOS primary 37 ENSP00000420637.1:p.Arg1579Ter ENST00000495273.5:c.4735C>T 3:g.78600184G>A ADAMTSL1_ENST00000431052 ENST00000431052.6 558 14632 TCGA-63-6202-01 1782392 1686391 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV52817892 COSM752925 125942232 c.298A>T p.K100* Substitution - Nonsense 38 9:18574090-18574090 + - PATHOGENIC .98091 Variant of unknown origin 418 fresh/frozen - NOS primary ENSP00000401157.2:p.Lys100Ter ENST00000431052.6:c.298A>T 9:g.18574090A>T ADAMTSL1_ENST00000431052 ENST00000431052.6 558 14632 RK182_C01 1918900 1806221 liver NS NS NS carcinoma NS NS NS y COSV52808094 COSM1636119 125938368 c.85G>T p.E29* Substitution - Nonsense het 38 9:18504850-18504850 + - PATHOGENIC .99137 Variant of unknown origin 322 fresh/frozen - NOS primary ENSP00000401157.2:p.Glu29Ter ENST00000431052.6:c.85G>T 9:g.18504850G>T PAX9 ENST00000361487.6 1026 8623 5-VS013-T1 2869834 2724831 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV105277083 COSM9689158 111521536 c.300G>A p.W100* Substitution - Nonsense 38 14:36663192-36663192 + - PATHOGENIC .99308 Confirmed somatic variant 26950094 surgery fresh/frozen NS 87 ENSP00000355245.6:p.Trp100Ter ENST00000361487.6:c.300G>A 14:g.36663192G>A PAX9 ENST00000361487.6 1026 8623 M100PT 2671672 2531231 pleura NS NS NS mesothelioma epithelial NS NS y COSV58721264 COSM6846717 111522975 c.991G>T p.E331* Substitution - Nonsense 38 14:36676417-36676417 + - PATHOGENIC .99736 Confirmed somatic variant 26928227 surgery fresh/frozen primary 63 ENSP00000355245.6:p.Glu331Ter ENST00000361487.6:c.991G>T 14:g.36676417G>T PAX9 ENST00000361487.6 1026 8623 TCGA-EY-A215-01 2198342 2066620 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV64061648 COSM6738293 111521541 c.175C>T p.R59* Substitution - Nonsense 38 14:36663067-36663067 + - PATHOGENIC .97069 Confirmed somatic variant 419 NS NS 60 ENSP00000355245.6:p.Arg59Ter ENST00000361487.6:c.175C>T 14:g.36663067C>T CRY1 ENST00000008527.9 1761 2384 TCGA-CK-4951-01 2193432 2061710 large_intestine colon NS NS carcinoma adenocarcinoma NS NS y COSV99150800 COSM7618960 96941074 c.664G>T p.E222* Substitution - Nonsense 38 12:107001300-107001300 - - PATHOGENIC .91214 Confirmed somatic variant 376 NS NS 79 ENSP00000008527.5:p.Glu222Ter ENST00000008527.9:c.664G>T 12:g.107001300C>A CRY1 ENST00000008527.9 1761 2384 TCGA-VQ-A91D-01 2339968 2204951 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV50484161 COSM145269 96939066 c.1099C>T p.R367* Substitution - Nonsense 38 12:106999589-106999589 - - PATHOGENIC .90463 Confirmed somatic variant 541 NS primary 70 ENSP00000008527.5:p.Arg367Ter ENST00000008527.9:c.1099C>T 12:g.106999589G>A LRRC41_ENST00000343304 ENST00000343304.10 2439 16917 T3503 2296229 2161832 large_intestine colon transverse NS carcinoma adenocarcinoma NS NS y COSV58438792 COSM4699092 107569691 c.1633C>T p.R545* Substitution - Nonsense 38 1:46281248-46281248 - - PATHOGENIC .92897 Confirmed somatic variant 25344691 NS NS 69 ENSP00000343298.6:p.Arg545Ter ENST00000343304.10:c.1633C>T 1:g.46281248G>A POLR3E_ENST00000359210 ENST00000359210.8 2001 30347 TCGA-AG-4007-01 1651576 1566363 large_intestine rectum NS NS carcinoma adenocarcinoma NS NS y COSV55401580 COSM289479 107894109 c.1057C>T p.R353* Substitution - Nonsense 38 16:22322920-22322920 + - PATHOGENIC .8956 Confirmed somatic variant 22810696 375 NS primary 87 ENSP00000352140.4:p.Arg353Ter ENST00000359210.8:c.1057C>T 16:g.22322920C>T ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 SW1222 2302013 2167296 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV71391881 COSM4654877 138558848 c.2359C>T p.R787* Substitution - Nonsense het 38 3:78657245-78657245 - - PATHOGENIC .923 Reported in another cancer sample as somatic 24755471 cell-line NS ENSP00000420637.1:p.Arg787Ter ENST00000495273.5:c.2359C>T 3:g.78657245G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-B5-A0JY-01 1783388 1687387 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV71392075 COSM1048554 138559994 c.4735C>T p.R1579* Substitution - Nonsense het 38 3:78600184-78600184 - - PATHOGENIC .96046 Reported in another cancer sample as somatic 419 fresh/frozen - NOS primary 50 ENSP00000420637.1:p.Arg1579Ter ENST00000495273.5:c.4735C>T 3:g.78600184G>A FLNB_ENST00000295956 ENST00000295956.8 7809 3755 PD42123a 2894835 2749323 skin trunk NS NS malignant_melanoma superficial_spreading NS NS y COSV105162226 COSM9923468 100496646 c.595C>T p.R199* Substitution - Nonsense 38 3:58078770-58078770 + - PATHOGENIC .94126 Confirmed somatic variant 33024263 surgery-fixed metastasis 80 ENSP00000295956.4:p.Arg199Ter ENST00000295956.8:c.595C>T 3:g.58078770C>T PTPA_ENST00000435132 ENST00000435132.5 186 9308 PASTPT 2730508 2589280 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm acute_lymphoblastic_T_cell_leukaemia NS NS y COSV61235572 COSM7000759 126426314 c.65G>A p.W22* Substitution - Nonsense 38 9:129142509-129142509 + - PATHOGENIC .95854 Confirmed somatic variant 28671688 NS primary 4 ENSP00000387726.1:p.Trp22Ter ENST00000435132.5:c.65G>A 9:g.129142509G>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 EOPC-031_tumor 2387296 2250128 prostate NS NS NS carcinoma adenocarcinoma NS NS y COSV62302676 COSM5950545 119168435 c.601G>T p.E201* Substitution - Nonsense 38 12:124466277-124466277 - - PATHOGENIC .96215 Confirmed somatic variant 534 NS primary 48 ENSP00000384202.1:p.Glu201Ter ENST00000404621.5:c.601G>T 12:g.124466277C>A MDM4_ENST00000614459 ENST00000614459.4 1179 6974 P-0004189-T01-IM5 2720594 2579415 lung NS NS NS carcinoma adenocarcinoma NS NS n COSV65796715 COSM6933823 168994073 c.793C>T p.R265* Substitution - Nonsense het 38 1:204549296-204549296 + - PATHOGENIC .9455 Confirmed somatic variant 28481359 surgery-fixed metastasis ENSP00000482388.1:p.Arg265Ter ENST00000614459.4:c.793C>T 1:g.204549296C>T MDM4_ENST00000614459 ENST00000614459.4 1179 6974 Thyroid-CN-WZ028T 2635089 2495485 thyroid NS NS NS carcinoma NS NS NS y COSV65796378 COSM6411607 168993207 c.460G>T p.G154* Substitution - Nonsense 38 1:204544616-204544616 + - PATHOGENIC .81993 Confirmed somatic variant 676 NS primary 64 ENSP00000482388.1:p.Gly154Ter ENST00000614459.4:c.460G>T 1:g.204544616G>T LRRC41_ENST00000343304 ENST00000343304.10 2439 16917 TCGA-B5-A1MX-01 2198273 2066551 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV100586350 COSM8869361 107568403 c.631C>T p.Q211* Substitution - Nonsense 38 1:46286226-46286226 - - PATHOGENIC .93698 Confirmed somatic variant 419 NS NS 47 ENSP00000343298.6:p.Gln211Ter ENST00000343304.10:c.631C>T 1:g.46286226G>A POLR3E_ENST00000359210 ENST00000359210.8 2001 30347 587284 1766769 1671089 large_intestine colon NS NS carcinoma adenocarcinoma NS NS y COSV55400326 COSM1221521 107891772 c.1920G>A p.W640* Substitution - Nonsense 38 16:22328563-22328563 + - PATHOGENIC .98064 Confirmed somatic variant 22895193 surgery fresh/frozen primary ENSP00000352140.4:p.Trp640Ter ENST00000359210.8:c.1920G>A 16:g.22328563G>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 183 2748155 2606858 stomach NS NS NS carcinoma NS NS NS y COSV100656913 COSM8501898 119147255 c.4111G>T p.E1371* Substitution - Nonsense 38 12:124346782-124346782 - - PATHOGENIC .99388 Confirmed somatic variant 683 NS primary ENSP00000384202.1:p.Glu1371Ter ENST00000404621.5:c.4111G>T 12:g.124346782C>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 5-VS097-T1 2869932 2724929 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV62300106 COSM2226930 119160483 c.5374C>T p.R1792* Substitution - Nonsense 38 12:124340378-124340378 - - PATHOGENIC .82478 Confirmed somatic variant 26950094 surgery fresh/frozen NS 76 ENSP00000384202.1:p.Arg1792Ter ENST00000404621.5:c.5374C>T 12:g.124340378G>A CRY1 ENST00000008527.9 1761 2384 DN12100 2549217 2410672 breast NS NS NS carcinoma HER-positive_carcinoma NS NS y COSV50489057 COSM6021163 96941315 c.782C>G p.S261* Substitution - Nonsense 38 12:106999985-106999985 - - PATHOGENIC .99668 Confirmed somatic variant 27406316 NS primary 37 ENSP00000008527.5:p.Ser261Ter ENST00000008527.9:c.782C>G 12:g.106999985G>C LRRC41_ENST00000343304 ENST00000343304.10 2439 16917 T3503 2658272 2518431 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV58438792 COSM4699092 107569691 c.1633C>T p.R545* Substitution - Nonsense 38 1:46281248-46281248 - - PATHOGENIC .92897 Confirmed somatic variant 27149842 NS NS 68.16 ENSP00000343298.6:p.Arg545Ter ENST00000343304.10:c.1633C>T 1:g.46281248G>A LRRC41_ENST00000343304 ENST00000343304.10 2439 16917 587342 1766789 1671109 large_intestine colon NS NS carcinoma adenocarcinoma NS NS y COSV58442827 COSM1213851 107569731 c.2319G>A p.W773* Substitution - Nonsense 38 1:46278985-46278985 - - PATHOGENIC .96894 Confirmed somatic variant 22895193 surgery fresh/frozen primary ENSP00000343298.6:p.Trp773Ter ENST00000343304.10:c.2319G>A 1:g.46278985C>T POLR3E_ENST00000359210 ENST00000359210.8 2001 30347 TCGA-EE-A2MM-06 2121684 1995920 skin NS NS NS malignant_melanoma NS NS NS y COSV100241803 COSM8079541 107891831 c.1927G>T p.G643* Substitution - Nonsense 38 16:22328570-22328570 + - PATHOGENIC .98285 Confirmed somatic variant 540 NS NS 63 ENSP00000352140.4:p.Gly643Ter ENST00000359210.8:c.1927G>T 16:g.22328570G>T ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 EXTERN_MELA_20140526_101 2839338 2695104 skin scalp NS NS malignant_melanoma NS NS NS y COSV104714541 COSM9301244 138598921 c.3637C>T p.Q1213* Substitution - Nonsense 38 3:78627424-78627424 - - PATHOGENIC .99314 Confirmed somatic variant 28467829 surgery fresh/frozen metastasis ENSP00000420637.1:p.Gln1213Ter ENST00000495273.5:c.3637C>T 3:g.78627424G>A FLNB_ENST00000295956 ENST00000295956.8 7809 3755 TCGA-4Z-AA7W-01 2385726 2248558 urinary_tract bladder NS NS carcinoma NS NS NS y COSV99915191 COSM7638519 100496234 c.4663C>T p.Q1555* Substitution - Nonsense 38 3:58134764-58134764 + - PATHOGENIC .97041 Confirmed somatic variant 413 NS primary 55 ENSP00000295956.4:p.Gln1555Ter ENST00000295956.8:c.4663C>T 3:g.58134764C>T ZNF274_ENST00000424679 ENST00000424679.6 1647 13068 LUAD-RT-S01709 1765195 1669515 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV58764680 COSM379912 123279823 c.961G>T p.E321* Substitution - Nonsense 38 19:58212457-58212457 + - NEUTRAL .01066 Variant of unknown origin 22980975 surgery - NOS primary 65 ENSP00000409872.3:p.Glu321Ter ENST00000424679.6:c.961G>T 19:g.58212457G>T NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 ccRCC-59 1980795 1867041 kidney NS NS NS carcinoma clear_cell_renal_cell_carcinoma NS NS y COSV62293359 COSM1659725 119157435 c.5142C>G p.Y1714* Substitution - Nonsense 38 12:124341839-124341839 - - PATHOGENIC .8906 Confirmed somatic variant 23797736 NS NS ENSP00000384202.1:p.Tyr1714Ter ENST00000404621.5:c.5142C>G 12:g.124341839G>C NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 2492723 2492723 2355338 skin NS NS NS malignant_melanoma NS NS NS y COSV62295574 COSM5722080 119152502 c.2893G>T p.E965* Substitution - Nonsense 38 12:124362279-124362279 - - PATHOGENIC .93284 Confirmed somatic variant 26286987 surgery fresh/frozen metastasis ENSP00000384202.1:p.Glu965Ter ENST00000404621.5:c.2893G>T 12:g.124362279C>A RPGRIP1L ENST00000647211.1 3948 29168 2834144 2834144 2689928 skin mucosal nasopharynx NS malignant_melanoma NS NS NS y COSV104567968 COSM9330825 177854056 c.3019G>T p.E1007* Substitution - Nonsense 38 16:53638351-53638351 - - NEUTRAL .21623 Variant of unknown origin 28296713 surgery - NOS primary 90 ENSP00000493946.1:p.Glu1007Ter ENST00000647211.1:c.3019G>T 16:g.53638351C>A RPGRIP1L ENST00000647211.1 3948 29168 SW480 2302018 2167301 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV50903252 COSM4655717 177853585 c.412C>T p.Q138* Substitution - Nonsense het 38 16:53692183-53692183 - - PATHOGENIC .94639 Variant of unknown origin 24755471 cell-line NS ENSP00000493946.1:p.Gln138Ter ENST00000647211.1:c.412C>T 16:g.53692183G>A RPGRIP1L ENST00000647211.1 3948 29168 587376 1766805 1671125 large_intestine colon NS NS carcinoma adenocarcinoma NS NS y COSV50911131 COSM170123 177852115 c.2230C>T p.R744* Substitution - Nonsense 38 16:53649038-53649038 - - PATHOGENIC .81868 Variant of unknown origin 22895193 surgery fresh/frozen primary ENSP00000493946.1:p.Arg744Ter ENST00000647211.1:c.2230C>T 16:g.53649038G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-EE-A181-06 2121622 1995858 skin NS NS NS malignant_melanoma NS NS NS y COSV99570338 COSM7938863 111209189 c.232G>T p.E78* Substitution - Nonsense 38 6:152520536-152520536 - - PATHOGENIC .99557 Confirmed somatic variant 540 NS NS 82 ENSP00000356222.4:p.Glu78Ter ENST00000367253.8:c.232G>T 6:g.152520536C>A MDM4_ENST00000614459 ENST00000614459.4 1179 6974 P-0000532-T02-IM5 2786867 2644290 breast NS NS NS carcinoma ER-positive_carcinoma NS NS n COSV65796238 COSM6937100 168995112 c.929C>G p.S310* Substitution - Nonsense 38 1:204549432-204549432 + - PATHOGENIC .92573 Confirmed somatic variant 30537512 surgery-fixed NS ENSP00000482388.1:p.Ser310Ter ENST00000614459.4:c.929C>G 1:g.204549432C>G SLAMF6_ENST00000368055 ENST00000368055.1 666 21392 LUAD-YINHD 1765263 1669583 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV63588305 COSM349829 110010290 c.298C>T p.Q100* Substitution - Nonsense 38 1:160491140-160491140 - - NEUTRAL .02005 Variant of unknown origin 22980975 surgery - NOS primary 65 ENSP00000357034.1:p.Gln100Ter ENST00000368055.1:c.298C>T 1:g.160491140G>A SLAMF6_ENST00000368055 ENST00000368055.1 666 21392 2834129 2834129 2689913 skin mucosal anorectal NS malignant_melanoma NS NS NS y COSV104677468 COSM9317472 110010665 c.109G>T p.E37* Substitution - Nonsense 38 1:160491329-160491329 - - NEUTRAL .09761 Variant of unknown origin 28296713 surgery - NOS metastasis 69 ENSP00000357034.1:p.Glu37Ter ENST00000368055.1:c.109G>T 1:g.160491329C>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 CSCC-55-T 2292487 2158551 skin head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV71392855 COSM4565789 138567397 c.2430_2431delinsTT p.R811* Substitution - Nonsense het 38 3:78657173-78657174 - - Confirmed somatic variant 25303977 surgery fresh/frozen metastasis 71 ENSP00000420637.1:p.Arg811Ter ENST00000495273.5:c.2430_2431delinsTT 3:g.78657173_78657174delinsAA NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 AH13_1 2906905 2761089 endometrium NS NS NS hyperplasia atypical NS NS y COSV105907310 COSM10008087 119166770 c.355C>T p.R119* Substitution - Nonsense 38 12:124483652-124483652 - - PATHOGENIC .9287 Confirmed somatic variant 33016334 surgery-fixed NS ENSP00000384202.1:p.Arg119Ter ENST00000404621.5:c.355C>T 12:g.124483652G>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 Thyroid-CN-WZ044T 2635105 2495501 thyroid NS NS NS carcinoma NS NS NS y COSV62295189 COSM6420816 119145278 c.1621A>T p.K541* Substitution - Nonsense 38 12:124402420-124402420 - - PATHOGENIC .95364 Confirmed somatic variant 676 NS primary 27 ENSP00000384202.1:p.Lys541Ter ENST00000404621.5:c.1621A>T 12:g.124402420T>A RPGRIP1L ENST00000647211.1 3948 29168 LUAD-CHTN-MAD06-00490 1765162 1669482 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV50910999 COSM357965 177852574 c.3223G>T p.E1075* Substitution - Nonsense 38 16:53636510-53636510 - - NEUTRAL .2818 Variant of unknown origin 22980975 surgery - NOS primary 36 ENSP00000493946.1:p.Glu1075Ter ENST00000647211.1:c.3223G>T 16:g.53636510C>A RPGRIP1L ENST00000647211.1 3948 29168 TCGA-AP-A0LM-01 1783352 1687351 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV50905890 COSM971482 177853658 c.3529C>T p.R1177* Substitution - Nonsense het 38 16:53619112-53619112 - - PATHOGENIC .8527 Variant of unknown origin 419 fresh/frozen - NOS primary 33 ENSP00000493946.1:p.Arg1177Ter ENST00000647211.1:c.3529C>T 16:g.53619112G>A RPGRIP1L ENST00000647211.1 3948 29168 MBC524 2807303 2664007 breast NS NS NS carcinoma ductal_carcinoma NS NS n COSV100046064 COSM9125641 177850985 c.1229T>A p.L410* Substitution - Nonsense 38 16:53664884-53664884 - - PATHOGENIC .98379 Variant of unknown origin 31340200 surgery - NOS NS ENSP00000493946.1:p.Leu410Ter ENST00000647211.1:c.1229T>A 16:g.53664884A>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 CG03 2816705 2673056 large_intestine rectum NS NS carcinoma adenocarcinoma NS NS y COSV104375135 COSM9225519 111184226 c.1942C>T p.R648* Substitution - Nonsense 38 6:152463508-152463508 - - PATHOGENIC .90206 Confirmed somatic variant 29937994 surgery fresh/frozen NS 61 ENSP00000356222.4:p.Arg648Ter ENST00000367253.8:c.1942C>T 6:g.152463508G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 W16T 2745047 2603750 thyroid NS NS NS carcinoma NS NS NS y COSV54930866 COSM6399443 111184559 c.4030C>T p.R1344* Substitution - Nonsense 38 6:152441249-152441249 - - PATHOGENIC .8428 Confirmed somatic variant 676 NS primary 40 ENSP00000356222.4:p.Arg1344Ter ENST00000367253.8:c.4030C>T 6:g.152441249G>A MDM4_ENST00000614459 ENST00000614459.4 1179 6974 CHG-13-09220T 2634310 2494706 liver NS NS NS other neoplasm NS NS y COSV65795697 COSM6262885 168996405 c.487G>T p.E163* Substitution - Nonsense 38 1:204544643-204544643 + - PATHOGENIC .84687 Confirmed somatic variant 660 NS primary 67 ENSP00000482388.1:p.Glu163Ter ENST00000614459.4:c.487G>T 1:g.204544643G>T ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-BP-4989-01 1779924 1683923 kidney NS NS NS carcinoma clear_cell_renal_cell_carcinoma NS NS y COSV71396846 COSM480594 138569838 c.2364C>A p.Y788* Substitution - Nonsense 38 3:78657240-78657240 - - PATHOGENIC .93785 Confirmed somatic variant 416 fresh/frozen - NOS primary 58 ENSP00000420637.1:p.Tyr788Ter ENST00000495273.5:c.2364C>A 3:g.78657240G>T TOR3A_ENST00000352445 ENST00000352445.10 1011 11997 TCGA-19-5956-01 2178192 2046490 central_nervous_system brain NS NS glioma astrocytoma_Grade_IV glioblastoma_multiforme NS y COSV100751351 COSM7475320 109853967 c.886G>T p.E296* Substitution - Nonsense 38 1:179094160-179094160 + - PATHOGENIC .98131 Confirmed somatic variant 329 NS NS 53 ENSP00000335351.6:p.Glu296Ter ENST00000352445.10:c.886G>T 1:g.179094160G>T ZNF274_ENST00000424679 ENST00000424679.6 1647 13068 TCGA-FI-A2D0-01 2198302 2066580 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV58765049 COSM3404722 123276480 c.1030C>T p.R344* Substitution - Nonsense 38 19:58212526-58212526 + - NEUTRAL .00821 Confirmed somatic variant 419 NS NS 55 ENSP00000409872.3:p.Arg344Ter ENST00000424679.6:c.1030C>T 19:g.58212526C>T NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 HCC-JP-479-T 2747012 2605715 liver NS NS NS other neoplasm NS NS y COSV62296443 COSM7184789 119159942 c.4842T>G p.Y1614* Substitution - Nonsense 38 12:124343069-124343069 - - PATHOGENIC .91333 Confirmed somatic variant 323 NS primary 74 ENSP00000384202.1:p.Tyr1614Ter ENST00000404621.5:c.4842T>G 12:g.124343069A>C NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 TCGA-85-8350-01 2195110 2063388 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV100656829 COSM8789118 119169536 c.4312G>T p.E1438* Substitution - Nonsense 38 12:124346581-124346581 - - PATHOGENIC .9978 Confirmed somatic variant 418 NS NS 61 ENSP00000384202.1:p.Glu1438Ter ENST00000404621.5:c.4312G>T 12:g.124346581C>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 TCGA-A2-A4S1-01 2187876 2056154 breast NS NS NS carcinoma NS NS NS y COSV62298060 COSM3811408 119157745 c.6868G>T p.E2290* Substitution - Nonsense 38 12:124332325-124332325 - - PATHOGENIC .99419 Confirmed somatic variant 414 NS NS 66 ENSP00000384202.1:p.Glu2290Ter ENST00000404621.5:c.6868G>T 12:g.124332325C>A ADAMTSL1_ENST00000431052 ENST00000431052.6 558 14632 5-VS047-T1 2869877 2724874 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV105107765 COSM9783285 125943079 c.323G>A p.W108* Substitution - Nonsense 38 9:18574115-18574115 + - PATHOGENIC .99638 Confirmed somatic variant 26950094 surgery fresh/frozen NS 48 ENSP00000401157.2:p.Trp108Ter ENST00000431052.6:c.323G>A 9:g.18574115G>A RPGRIP1L ENST00000647211.1 3948 29168 LOVO 2301996 2167279 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV50913082 COSM4645238 177852284 c.367G>T p.E123* Substitution - Nonsense het 38 16:53692228-53692228 - - PATHOGENIC .97344 Variant of unknown origin 24755471 cell-line NS ENSP00000493946.1:p.Glu123Ter ENST00000647211.1:c.367G>T 16:g.53692228C>A RPGRIP1L ENST00000647211.1 3948 29168 TCGA-D1-A17Q-01 1783533 1687532 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV50902645 COSM971501 177850559 c.751C>T p.R251* Substitution - Nonsense het 38 16:53686458-53686458 - - PATHOGENIC .94214 Reported in another cancer sample as somatic 419 fresh/frozen - NOS primary 54 ENSP00000493946.1:p.Arg251Ter ENST00000647211.1:c.751C>T 16:g.53686458G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-IR-A3LK-01 2193405 2061683 cervix NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV55047846 COSM4816383 111208037 c.3778G>T p.E1260* Substitution - Nonsense 38 6:152444470-152444470 - - PATHOGENIC .96375 Confirmed somatic variant 415 NS NS 69 ENSP00000356222.4:p.Glu1260Ter ENST00000367253.8:c.3778G>T 6:g.152444470C>A MMP13_ENST00000615555 ENST00000615555.4 1152 7159 TCGA-44-6777-01 1780131 1684130 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV52824829 COSM6066983 167165447 c.621G>A p.W207* Substitution - Nonsense 38 11:102954172-102954172 - - PATHOGENIC .92088 Variant of unknown origin 417 fresh/frozen - NOS primary 85 ENSP00000482883.1:p.Trp207Ter ENST00000615555.4:c.621G>A 11:g.102954172C>T MMP13_ENST00000615555 ENST00000615555.4 1152 7159 TCGA-44-8117-01 1913989 1802271 lung right_upper_lobe NS NS carcinoma adenocarcinoma NS NS y COSV52825273 COSM6130574 167166188 c.360C>A p.Y120* Substitution - Nonsense 38 11:102955254-102955254 - - PATHOGENIC .99801 Variant of unknown origin 417 fresh/frozen - NOS primary 54 ENSP00000482883.1:p.Tyr120Ter ENST00000615555.4:c.360C>A 11:g.102955254G>T FLNB_ENST00000295956 ENST00000295956.8 7809 3755 CHG-12-12649T 2634294 2494690 liver NS NS NS other neoplasm NS NS y COSV55874549 COSM6290182 100488802 c.557G>A p.W186* Substitution - Nonsense 38 3:58078732-58078732 + - PATHOGENIC .99417 Confirmed somatic variant 660 NS primary 50 ENSP00000295956.4:p.Trp186Ter ENST00000295956.8:c.557G>A 3:g.58078732G>A ZNF274_ENST00000424679 ENST00000424679.6 1647 13068 T3527 2658694 2518853 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV58767594 COSM6828972 123277554 c.37C>T p.Q13* Substitution - Nonsense 38 19:58206815-58206815 + - NEUTRAL .39428 Confirmed somatic variant 27149842 NS NS 73.91 ENSP00000409872.3:p.Gln13Ter ENST00000424679.6:c.37C>T 19:g.58206815C>T NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 TCGA-DK-A2I1-01 1898100 1786784 urinary_tract bladder NS NS carcinoma NS NS NS y COSV100657796 COSM1299097 119167461 c.269C>G p.S90* Substitution - Nonsense 38 12:124483738-124483738 - - PATHOGENIC .95029 Confirmed somatic variant 413 fresh/frozen - NOS primary 73 ENSP00000384202.1:p.Ser90Ter ENST00000404621.5:c.269C>G 12:g.124483738G>C ADAMTSL1_ENST00000431052 ENST00000431052.6 558 14632 BD179T 2459810 2322647 biliary_tract bile_duct NS NS carcinoma NS NS NS y COSV52822904 COSN20048247 125936571 c.494C>A p.S165* Substitution - Nonsense 38 9:18574286-18574286 + - NEUTRAL .17213 Confirmed somatic variant 658 NS primary 44 ENSP00000401157.2:p.Ser165Ter ENST00000431052.6:c.494C>A 9:g.18574286C>A RPGRIP1L ENST00000647211.1 3948 29168 LUAD_E00565 1765252 1669572 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV50902492 COSM389184 177853494 c.3940G>T p.E1314* Substitution - Nonsense 38 16:53602084-53602084 - - PATHOGENIC .91939 Variant of unknown origin 22980975 surgery - NOS primary 78 ENSP00000493946.1:p.Glu1314Ter ENST00000647211.1:c.3940G>T 16:g.53602084C>A RPGRIP1L ENST00000647211.1 3948 29168 TCGA-AP-A0LM-01 1783352 1687351 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV50903640 COSM971493 177850373 c.1804C>T p.R602* Substitution - Nonsense het 38 16:53652883-53652883 - - PATHOGENIC .83157 Reported in another cancer sample as somatic 419 fresh/frozen - NOS primary 33 ENSP00000493946.1:p.Arg602Ter ENST00000647211.1:c.1804C>T 16:g.53652883G>A LRRC41_ENST00000343304 ENST00000343304.10 2439 16917 HCC1008 1235076 1146862 breast NS NS NS carcinoma ductal_carcinoma NS NS n COSV58440104 COSM32477 107570582 c.298C>T p.Q100* Substitution - Nonsense het 38 1:46297622-46297622 - - PATHOGENIC .9396 Confirmed somatic variant 16959974 cell-line metastasis 67 ENSP00000343298.6:p.Gln100Ter ENST00000343304.10:c.298C>T 1:g.46297622G>A LRRC41_ENST00000343304 ENST00000343304.10 2439 16917 ILMN32 2816792 2673143 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS y COSV104421644 COSM9234517 107568033 c.886C>T p.R296* Substitution - Nonsense 38 1:46285971-46285971 - - PATHOGENIC .8863 Confirmed somatic variant 29937994 surgery fresh/frozen NS 52 ENSP00000343298.6:p.Arg296Ter ENST00000343304.10:c.886C>T 1:g.46285971G>A ZNF274_ENST00000424679 ENST00000424679.6 1647 13068 5-NB007-T1 2869811 2724808 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV105227135 COSM9660396 123277681 c.169C>T p.Q57* Substitution - Nonsense 38 19:58206947-58206947 + - .57311 Confirmed somatic variant 26950094 surgery fresh/frozen NS 91 ENSP00000409872.3:p.Gln57Ter ENST00000424679.6:c.169C>T 19:g.58206947C>T ZNF274_ENST00000424679 ENST00000424679.6 1647 13068 NPC0001PT00235T00235 2857306 2712606 upper_aerodigestive_tract pharynx nasopharynx NS carcinoma nasopharyngeal_carcinoma non_keratinizing NS y COSV105227099 COSM9541662 123280817 c.10G>T p.E4* Substitution - Nonsense 38 19:58206788-58206788 + - NEUTRAL .036 Confirmed somatic variant 28851814 surgery-fixed primary ENSP00000409872.3:p.Glu4Ter ENST00000424679.6:c.10G>T 19:g.58206788G>T RPGRIP1L ENST00000647211.1 3948 29168 TCGA-B5-A0JY-01 1783388 1687387 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV50903640 COSM971493 177850373 c.1804C>T p.R602* Substitution - Nonsense het 38 16:53652883-53652883 - - PATHOGENIC .83157 Reported in another cancer sample as somatic 419 fresh/frozen - NOS primary 50 ENSP00000493946.1:p.Arg602Ter ENST00000647211.1:c.1804C>T 16:g.53652883G>A RPGRIP1L ENST00000647211.1 3948 29168 TCGA-FS-A1ZA-06 2121753 1995989 skin NS NS NS malignant_melanoma NS NS NS y COSV50903035 COSM3510264 177851963 c.2560C>T p.R854* Substitution - Nonsense 38 16:53645748-53645748 - - PATHOGENIC .87802 Confirmed somatic variant 540 NS NS 45 ENSP00000493946.1:p.Arg854Ter ENST00000647211.1:c.2560C>T 16:g.53645748G>A RPGRIP1L ENST00000647211.1 3948 29168 AOCS-002-1-X 2196228 2064506 ovary NS NS NS carcinoma mixed_adenosquamous_carcinoma NS NS y COSV50909555 COSM3948592 177854710 c.1066G>T p.E356* Substitution - Nonsense 38 16:53671547-53671547 - - PATHOGENIC .98897 Confirmed somatic variant 585 NS NS ENSP00000493946.1:p.Glu356Ter ENST00000647211.1:c.1066G>T 16:g.53671547C>A CRY1 ENST00000008527.9 1761 2384 TCGA-VQ-A8PO-01 2340117 2205100 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV99150385 COSM8215147 96940355 c.157C>T p.R53* Substitution - Nonsense 38 12:107092805-107092805 - - .56104 Confirmed somatic variant 541 NS primary 74 ENSP00000008527.5:p.Arg53Ter ENST00000008527.9:c.157C>T 12:g.107092805G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 EXTERN_MELA_20140924_117 2839330 2695096 skin NS NS NS malignant_melanoma NS NS NS y COSV104543058 COSM9443706 111179489 c.2566C>T p.Q856* Substitution - Nonsense 38 6:152458759-152458759 - - PATHOGENIC .94667 Confirmed somatic variant 28467829 cell-line metastasis ENSP00000356222.4:p.Gln856Ter ENST00000367253.8:c.2566C>T 6:g.152458759G>A MMP13_ENST00000615555 ENST00000615555.4 1152 7159 TCGA-ER-A19P-06 2121726 1995962 skin NS NS NS malignant_melanoma NS NS NS y COSV99506406 COSM7974121 167165286 c.586G>T p.G196* Substitution - Nonsense 38 11:102954207-102954207 - - PATHOGENIC .99143 Confirmed somatic variant 540 NS NS 47 ENSP00000482883.1:p.Gly196Ter ENST00000615555.4:c.586G>T 11:g.102954207C>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 Thyroid-CN-WZ044T 2635105 2495501 thyroid NS NS NS carcinoma NS NS NS y COSV62295168 COSM6420273 119145257 c.1795C>T p.Q599* Substitution - Nonsense 38 12:124400516-124400516 - - PATHOGENIC .99433 Confirmed somatic variant 676 NS primary 27 ENSP00000384202.1:p.Gln599Ter ENST00000404621.5:c.1795C>T 12:g.124400516G>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 PD207-BL 2674322 2533654 breast NS NS NS carcinoma ER-positive_carcinoma NS NS n COSV62302845 COSM6849560 119166627 c.1624G>T p.E542* Substitution - Nonsense 38 12:124402417-124402417 - - PATHOGENIC .97773 Confirmed somatic variant 28270497 surgery fresh/frozen primary ENSP00000384202.1:p.Glu542Ter ENST00000404621.5:c.1624G>T 12:g.124402417C>A RPGRIP1L ENST00000647211.1 3948 29168 HOP-92 1998446 1883518 lung NS NS NS carcinoma large_cell_carcinoma NS NS y COSV50905239 COSM1679092 177850214 c.1489G>T p.E497* Substitution - Nonsense hom 38 16:53657545-53657545 - - PATHOGENIC .97915 Confirmed somatic variant 23856246 cell-line primary ENSP00000493946.1:p.Glu497Ter ENST00000647211.1:c.1489G>T 16:g.53657545C>A RPGRIP1L ENST00000647211.1 3948 29168 1619 2673925 2533264 breast NS NS NS carcinoma ductal_carcinoma NS NS y COSV50909636 COSM6849082 177850276 c.871C>T p.Q291* Substitution - Nonsense 38 16:53675028-53675028 - - PATHOGENIC .96484 Confirmed somatic variant 25961742 fixed - NOS primary 52 ENSP00000493946.1:p.Gln291Ter ENST00000647211.1:c.871C>T 16:g.53675028G>A CRY1 ENST00000008527.9 1761 2384 TCGA-B5-A11E-01 1783399 1687398 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV99150461 COSM9011315 96941253 c.1548T>G p.Y516* Substitution - Nonsense 38 12:106997331-106997331 - - PATHOGENIC .89626 Confirmed somatic variant 419 fresh/frozen - NOS primary 53 ENSP00000008527.5:p.Tyr516Ter ENST00000008527.9:c.1548T>G 12:g.106997331A>C CRY1 ENST00000008527.9 1761 2384 TCGA-HU-A4GN-01 2198035 2066313 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV50481923 COSM1179653 96938927 c.766C>T p.R256* Substitution - Nonsense 38 12:107000001-107000001 - - PATHOGENIC .99319 Confirmed somatic variant 541 NS NS 61 ENSP00000008527.5:p.Arg256Ter ENST00000008527.9:c.766C>T 12:g.107000001G>A MMP13_ENST00000615555 ENST00000615555.4 1152 7159 T593 2658231 2518390 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV52825821 COSM6713752 167164736 c.325C>T p.R109* Substitution - Nonsense 38 11:102955289-102955289 - - PATHOGENIC .87422 Confirmed somatic variant 27149842 NS NS 67.5 ENSP00000482883.1:p.Arg109Ter ENST00000615555.4:c.325C>T 11:g.102955289G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 BRCA-05246_CCPM_0300504-Tumor-SM-E765N 2857605 2712893 breast NS NS NS carcinoma ER-positive_carcinoma NS NS y COSV105355924 COSM9560288 138570144 c.1900C>T p.Q634* Substitution - Nonsense 38 3:78662073-78662073 - - PATHOGENIC .98901 Confirmed somatic variant 30531871 surgery fresh/frozen metastasis 59 ENSP00000420637.1:p.Gln634Ter ENST00000495273.5:c.1900C>T 3:g.78662073G>A ZNF274_ENST00000424679 ENST00000424679.6 1647 13068 T4500 2658312 2518471 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV58765049 COSM3404722 123276480 c.1030C>T p.R344* Substitution - Nonsense 38 19:58212526-58212526 + - NEUTRAL .00821 Confirmed somatic variant 27149842 NS NS 79.16 ENSP00000409872.3:p.Arg344Ter ENST00000424679.6:c.1030C>T 19:g.58212526C>T ZNF274_ENST00000424679 ENST00000424679.6 1647 13068 ACINAR01 2068112 1947905 pancreas NS NS NS carcinoma acinar_carcinoma NS NS y COSV58763280 COSM1735111 123278644 c.1207C>T p.R403* Substitution - Nonsense 38 19:58212703-58212703 + - NEUTRAL .01197 Confirmed somatic variant 24293293 surgery fresh/frozen primary 53 ENSP00000409872.3:p.Arg403Ter ENST00000424679.6:c.1207C>T 19:g.58212703C>T CRY1 ENST00000008527.9 1761 2384 T345 2658243 2518402 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV50486196 COSM6635800 96940176 c.787C>T p.R263* Substitution - Nonsense 38 12:106999980-106999980 - - PATHOGENIC .98686 Confirmed somatic variant 27149842 NS NS 70 ENSP00000008527.5:p.Arg263Ter ENST00000008527.9:c.787C>T 12:g.106999980G>A CRY1 ENST00000008527.9 1761 2384 321 1630881 1547751 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma NS NS y COSV50484161 COSM145269 96939066 c.1099C>T p.R367* Substitution - Nonsense 38 12:106999589-106999589 - - PATHOGENIC .90463 Confirmed somatic variant 22158541 blood-bone marrow NS ENSP00000008527.5:p.Arg367Ter ENST00000008527.9:c.1099C>T 12:g.106999589G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 0177_CRUK_PC_0177_T1_DNA 2634980 2495376 prostate NS NS NS carcinoma adenocarcinoma NS NS y COSV55026497 COSM6218028 111189513 c.1136C>A p.S379* Substitution - Nonsense 38 6:152484884-152484884 - - PATHOGENIC .94747 Confirmed somatic variant 538 NS primary 67 ENSP00000356222.4:p.Ser379Ter ENST00000367253.8:c.1136C>A 6:g.152484884G>T MMP13_ENST00000615555 ENST00000615555.4 1152 7159 TCGA-86-8674-01 2194823 2063101 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV99506459 COSM7782297 167165016 c.985G>T p.E329* Substitution - Nonsense 38 11:102949091-102949091 - - .52003 Confirmed somatic variant 417 NS NS 50 ENSP00000482883.1:p.Glu329Ter ENST00000615555.4:c.985G>T 11:g.102949091C>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 T36 2296237 2161840 large_intestine colon transverse NS carcinoma adenocarcinoma NS NS y COSV71392917 COSM4722268 138570828 c.4495C>T p.R1499* Substitution - Nonsense 38 3:78606847-78606847 - - PATHOGENIC .83583 Confirmed somatic variant 25344691 NS NS 72.91 ENSP00000420637.1:p.Arg1499Ter ENST00000495273.5:c.4495C>T 3:g.78606847G>A FLNB_ENST00000295956 ENST00000295956.8 7809 3755 pfg006T 1943736 1830646 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV55880748 COSM1642326 100480145 c.904G>T p.E302* Substitution - Nonsense 38 3:58094952-58094952 + - PATHOGENIC .99486 Confirmed somatic variant 22037554 fresh/frozen - NOS NS ENSP00000295956.4:p.Glu302Ter ENST00000295956.8:c.904G>T 3:g.58094952G>T ZNF274_ENST00000424679 ENST00000424679.6 1647 13068 EXTERN_MELA_20140526_073 2839336 2695102 skin trunk NS NS malignant_melanoma NS NS NS y COSV104641207 COSM9375467 123279153 c.232C>T p.R78* Substitution - Nonsense 38 19:58207010-58207010 + - NEUTRAL .02884 Confirmed somatic variant 28467829 surgery fresh/frozen primary ENSP00000409872.3:p.Arg78Ter ENST00000424679.6:c.232C>T 19:g.58207010C>T CRY1 ENST00000008527.9 1761 2384 5-VS042-T1 2869872 2724869 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV50481923 COSM1179653 96938927 c.766C>T p.R256* Substitution - Nonsense 38 12:107000001-107000001 - - PATHOGENIC .99319 Confirmed somatic variant 26950094 surgery fresh/frozen NS 64 ENSP00000008527.5:p.Arg256Ter ENST00000008527.9:c.766C>T 12:g.107000001G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-E2-A1IL-01 1900167 1788851 breast NS NS NS carcinoma NS NS NS y COSV54928228 COSM1487379 111183881 c.4561C>T p.R1521* Substitution - Nonsense 38 6:152430610-152430610 - - PATHOGENIC .96907 Confirmed somatic variant 414 fresh/frozen - NOS primary 78 ENSP00000356222.4:p.Arg1521Ter ENST00000367253.8:c.4561C>T 6:g.152430610G>A MMP13_ENST00000615555 ENST00000615555.4 1152 7159 TCGA-D3-A1Q1-06 2121498 1995734 skin NS NS NS malignant_melanoma NS NS NS y COSV99506406 COSM7974121 167165286 c.586G>T p.G196* Substitution - Nonsense 38 11:102954207-102954207 - - PATHOGENIC .99143 Confirmed somatic variant 540 NS NS 79 ENSP00000482883.1:p.Gly196Ter ENST00000615555.4:c.586G>T 11:g.102954207C>A RAP1GAP2 ENST00000254695.12 2193 29176 2834130 2834130 2689914 skin mucosal anorectal NS malignant_melanoma NS NS NS y COSV54576624 COSM6762685 98448768 c.1684C>T p.R562* Substitution - Nonsense 38 17:3020528-3020528 + - PATHOGENIC .9564 Reported in another cancer sample as somatic 28296713 surgery - NOS primary 59 ENSP00000254695.8:p.Arg562Ter ENST00000254695.12:c.1684C>T 17:g.3020528C>T SLAMF6_ENST00000368055 ENST00000368055.1 666 21392 CCRF-CEM 1998437 1883509 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm acute_lymphoblastic_leukaemia NS NS y COSV63586699 COSM1668145 110010986 c.67C>T p.Q23* Substitution - Nonsense het 38 1:160491371-160491371 - - NEUTRAL .03695 Confirmed somatic variant 23856246 cell-line primary ENSP00000357034.1:p.Gln23Ter ENST00000368055.1:c.67C>T 1:g.160491371G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 CSCC-38-T 2292476 2158540 skin head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV71392006 COSM4461557 138570101 c.1102C>T p.R368* Substitution - Nonsense het 38 3:78685878-78685878 - - PATHOGENIC .9579 Confirmed somatic variant 25303977 surgery fresh/frozen metastasis 67 ENSP00000420637.1:p.Arg368Ter ENST00000495273.5:c.1102C>T 3:g.78685878G>A ZNF274_ENST00000424679 ENST00000424679.6 1647 13068 TCGA-GS-A9TZ-01 2457241 2320078 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm diffuse_large_B_cell_lymphoma NS NS y COSV100464687 COSM8438251 123281708 c.344G>A p.W115* Substitution - Nonsense 38 19:58207122-58207122 + - PATHOGENIC .71947 Confirmed somatic variant 632 NS primary 51 ENSP00000409872.3:p.Trp115Ter ENST00000424679.6:c.344G>A 19:g.58207122G>A ZNF274_ENST00000424679 ENST00000424679.6 1647 13068 TCGA-09-0369-01 1474883 1398582 ovary NS NS NS carcinoma serous_carcinoma NS NS y COSV100464814 COSM7518935 123280613 c.616G>T p.E206* Substitution - Nonsense 38 19:58211638-58211638 + - .62108 Confirmed somatic variant 331 NS primary 56 ENSP00000409872.3:p.Glu206Ter ENST00000424679.6:c.616G>T 19:g.58211638G>T ZNF274_ENST00000424679 ENST00000424679.6 1647 13068 TCGA-09-0369-01 1474883 1398582 ovary NS NS NS carcinoma serous_carcinoma NS NS y COSV100464814 COSM7518935 123280613 c.616G>T p.E206* Substitution - Nonsense 38 19:58211638-58211638 + - .62108 Confirmed somatic variant 21720365 331 NS primary 56 ENSP00000409872.3:p.Glu206Ter ENST00000424679.6:c.616G>T 19:g.58211638G>T ADAMTSL1_ENST00000431052 ENST00000431052.6 558 14632 TCGA-EE-A2MR-06 2121688 1995924 skin NS NS NS malignant_melanoma NS NS NS y COSV52813348 COSM3656381 125942044 c.126G>A p.W42* Substitution - Nonsense 38 9:18504891-18504891 + - PATHOGENIC .99186 Confirmed somatic variant 540 NS NS 61 ENSP00000401157.2:p.Trp42Ter ENST00000431052.6:c.126G>A 9:g.18504891G>A ADAMTSL1_ENST00000431052 ENST00000431052.6 558 14632 TCGA-FR-A7UA-06 2339738 2204721 skin NS NS NS malignant_melanoma NS NS NS y COSV99440593 COSM8003551 125936309 c.435T>A p.Y145* Substitution - Nonsense 38 9:18574227-18574227 + - PATHOGENIC .89482 Confirmed somatic variant 540 NS NS 65 ENSP00000401157.2:p.Tyr145Ter ENST00000431052.6:c.435T>A 9:g.18574227T>A RPGRIP1L ENST00000647211.1 3948 29168 TCGA-AP-A1DH-01 2198350 2066628 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV50902645 COSM971501 177850559 c.751C>T p.R251* Substitution - Nonsense 38 16:53686458-53686458 - - PATHOGENIC .94214 Confirmed somatic variant 419 NS NS 62 ENSP00000493946.1:p.Arg251Ter ENST00000647211.1:c.751C>T 16:g.53686458G>A RPGRIP1L ENST00000647211.1 3948 29168 585208 1759401 1664149 lung NS NS NS carcinoma small_cell_carcinoma NS NS y COSV50906600 COSM326393 177852009 c.450C>G p.Y150* Substitution - Nonsense 38 16:53692145-53692145 - - PATHOGENIC .92697 Confirmed somatic variant 22941189 fresh/frozen - NOS primary ENSP00000493946.1:p.Tyr150Ter ENST00000647211.1:c.450C>G 16:g.53692145G>C CRY1 ENST00000008527.9 1761 2384 TCGA-55-7995-01 2194794 2063072 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV99151039 COSM7790830 96939114 c.586G>T p.E196* Substitution - Nonsense 38 12:107001773-107001773 - - PATHOGENIC .99009 Confirmed somatic variant 417 NS NS 73 ENSP00000008527.5:p.Glu196Ter ENST00000008527.9:c.586G>T 12:g.107001773C>A SLAMF6_ENST00000368055 ENST00000368055.1 666 21392 5-VS037-T2 2869863 2724860 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV63586364 COSM3476873 110010041 c.94C>T p.Q32* Substitution - Nonsense 38 1:160491344-160491344 - - NEUTRAL .03008 Confirmed somatic variant 26950094 surgery fresh/frozen NS 83 ENSP00000357034.1:p.Gln32Ter ENST00000368055.1:c.94C>T 1:g.160491344G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 G-2A 2746114 2604817 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV71392917 COSM4722268 138570828 c.4495C>T p.R1499* Substitution - Nonsense 38 3:78606847-78606847 - - PATHOGENIC .83583 Confirmed somatic variant 646 NS primary 23 ENSP00000420637.1:p.Arg1499Ter ENST00000495273.5:c.4495C>T 3:g.78606847G>A FLNB_ENST00000295956 ENST00000295956.8 7809 3755 TCGA-ER-A19H-06 2121719 1995955 skin NS NS NS malignant_melanoma NS NS NS y COSV99911817 COSM8026104 100483274 c.4771G>T p.G1591* Substitution - Nonsense 38 3:58136078-58136078 + - PATHOGENIC .9378 Confirmed somatic variant 540 NS NS 40 ENSP00000295956.4:p.Gly1591Ter ENST00000295956.8:c.4771G>T 3:g.58136078G>T FLNB_ENST00000295956 ENST00000295956.8 7809 3755 TCGA-G3-A3CK-01 2194624 2062902 liver NS NS NS carcinoma hepatocellular_carcinoma NS NS y COSV55876894 COSM2782590 100483932 c.6780C>G p.Y2260* Substitution - Nonsense 38 3:58155967-58155967 + - PATHOGENIC .94025 Confirmed somatic variant 628 NS NS 61 ENSP00000295956.4:p.Tyr2260Ter ENST00000295956.8:c.6780C>G 3:g.58155967C>G NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 TCGA-EB-A299-01 2121587 1995823 skin NS NS NS malignant_melanoma NS NS NS y COSV100656803 COSM8129201 119152282 c.3385G>T p.E1129* Substitution - Nonsense 38 12:124354906-124354906 - - PATHOGENIC .91715 Confirmed somatic variant 540 NS NS 63 ENSP00000384202.1:p.Glu1129Ter ENST00000404621.5:c.3385G>T 12:g.124354906C>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 TCGA-KK-A59V-01 2339426 2204409 prostate NS NS NS carcinoma adenocarcinoma NS NS y COSV62304518 COSM4878863 119161868 c.5362C>T p.R1788* Substitution - Nonsense 38 12:124340390-124340390 - - PATHOGENIC .89549 Confirmed somatic variant 435 NS primary 64 ENSP00000384202.1:p.Arg1788Ter ENST00000404621.5:c.5362C>T 12:g.124340390G>A RPGRIP1L ENST00000647211.1 3948 29168 C086 2465276 2328109 NS NS NS NS malignant_melanoma NS NS NS y COSV50917148 COSM5538362 177851977 c.2200C>T p.R734* Substitution - Nonsense 38 16:53649068-53649068 - - PATHOGENIC .8453 Confirmed somatic variant 23890154 cell-line metastasis ENSP00000493946.1:p.Arg734Ter ENST00000647211.1:c.2200C>T 16:g.53649068G>A CRY1 ENST00000008527.9 1761 2384 WD_05 2688639 2547621 skin back NS NS carcinoma squamous_cell_carcinoma NS NS y COSV50486501 COSM6897609 96939580 c.960G>A p.W320* Substitution - Nonsense het 38 12:106999728-106999728 - - PATHOGENIC .97325 Confirmed somatic variant 24662767 surgery fresh/frozen NS 67 ENSP00000008527.5:p.Trp320Ter ENST00000008527.9:c.960G>A 12:g.106999728C>T MMP13_ENST00000615555 ENST00000615555.4 1152 7159 2640256 2640256 2500557 large_intestine caecum NS NS carcinoma adenocarcinoma NS NS y COSV104587382 COSM9411313 167165027 c.435G>A p.W145* Substitution - Nonsense 38 11:102954534-102954534 - - PATHOGENIC .99708 Confirmed somatic variant 27612425 surgery fresh/frozen NS 35 ENSP00000482883.1:p.Trp145Ter ENST00000615555.4:c.435G>A 11:g.102954534C>T SLAMF6_ENST00000368055 ENST00000368055.1 666 21392 TCGA-EE-A2GN-06 2121664 1995900 skin NS NS NS malignant_melanoma NS NS NS y COSV63586364 COSM3476873 110010041 c.94C>T p.Q32* Substitution - Nonsense 38 1:160491344-160491344 - - NEUTRAL .03008 Confirmed somatic variant 540 NS NS 67 ENSP00000357034.1:p.Gln32Ter ENST00000368055.1:c.94C>T 1:g.160491344G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-ZF-AA4N-01 2385824 2248656 urinary_tract bladder NS NS carcinoma NS NS NS y COSV71393672 COSM4830590 138593568 c.2491C>T p.Q831* Substitution - Nonsense 38 3:78657113-78657113 - - PATHOGENIC .96337 Confirmed somatic variant 413 NS primary 74 ENSP00000420637.1:p.Gln831Ter ENST00000495273.5:c.2491C>T 3:g.78657113G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-WL-A834-01 2339802 2204785 cervix NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV71393672 COSM4830590 138593568 c.2491C>T p.Q831* Substitution - Nonsense 38 3:78657113-78657113 - - PATHOGENIC .96337 Confirmed somatic variant 415 NS primary 57 ENSP00000420637.1:p.Gln831Ter ENST00000495273.5:c.2491C>T 3:g.78657113G>A FLNB_ENST00000295956 ENST00000295956.8 7809 3755 TCGA-CD-A4MG-01 2198123 2066401 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV55897351 COSM4119593 100479652 c.1945C>T p.R649* Substitution - Nonsense 38 3:58108461-58108461 + - PATHOGENIC .85666 Confirmed somatic variant 541 NS NS 76 ENSP00000295956.4:p.Arg649Ter ENST00000295956.8:c.1945C>T 3:g.58108461C>T FLNB_ENST00000295956 ENST00000295956.8 7809 3755 F81_339102 2815726 2672096 large_intestine rectum NS NS carcinoma adenocarcinoma NS NS y COSV55902127 COSM2782367 100495586 c.2452C>T p.R818* Substitution - Nonsense 38 3:58110138-58110138 + - PATHOGENIC .85788 Confirmed somatic variant 31660073 surgery-fixed NS 74 ENSP00000295956.4:p.Arg818Ter ENST00000295956.8:c.2452C>T 3:g.58110138C>T ZNF274_ENST00000424679 ENST00000424679.6 1647 13068 PtS43M 2856927 2712227 kidney NS NS NS carcinoma clear_cell_renal_cell_carcinoma NS NS y COSV105227123 COSM9521080 123281093 c.938C>A p.S313* Substitution - Nonsense 38 19:58212434-58212434 + - NEUTRAL .01117 Confirmed somatic variant 32271170 surgery-fixed metastasis ENSP00000409872.3:p.Ser313Ter ENST00000424679.6:c.938C>A 19:g.58212434C>A RPGRIP1L ENST00000647211.1 3948 29168 T2423 2658334 2518493 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV50905127 COSM971492 177851204 c.1945C>T p.R649* Substitution - Nonsense 38 16:53652742-53652742 - - NEUTRAL .18307 Confirmed somatic variant 27149842 NS NS 59.33 ENSP00000493946.1:p.Arg649Ter ENST00000647211.1:c.1945C>T 16:g.53652742G>A CRY1 ENST00000008527.9 1761 2384 T4508 2658567 2518726 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV50482063 COSM6635803 96940300 c.199C>T p.R67* Substitution - Nonsense 38 12:107022152-107022152 - - PATHOGENIC .89501 Confirmed somatic variant 27149842 NS NS 78 ENSP00000008527.5:p.Arg67Ter ENST00000008527.9:c.199C>T 12:g.107022152G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 HKNPC-003-Tumor-SM-64MF1 2640101 2500402 upper_aerodigestive_tract pharynx nasopharynx NS carcinoma nasopharyngeal_carcinoma NS NS y COSV54915173 COSM1672926 111170736 c.661C>T p.R221* Substitution - Nonsense 38 6:152505318-152505318 - - PATHOGENIC .95524 Confirmed somatic variant 28098136 surgery-fixed primary 74 ENSP00000356222.4:p.Arg221Ter ENST00000367253.8:c.661C>T 6:g.152505318G>A ZNF274_ENST00000424679 ENST00000424679.6 1647 13068 TCGA-32-2495-01 2120350 1994586 central_nervous_system brain NS NS glioma astrocytoma_Grade_IV glioblastoma_multiforme NS y COSV58765049 COSM3404722 123276480 c.1030C>T p.R344* Substitution - Nonsense 38 19:58212526-58212526 + - NEUTRAL .00821 Confirmed somatic variant 329 NS NS 59 ENSP00000409872.3:p.Arg344Ter ENST00000424679.6:c.1030C>T 19:g.58212526C>T RPGRIP1L ENST00000647211.1 3948 29168 TCGA-A6-6648-01 1650955 1565742 large_intestine colon transverse NS carcinoma adenocarcinoma NS NS y COSV50918773 COSM1378350 177853029 c.268A>T p.K90* Substitution - Nonsense 38 16:53692327-53692327 - - PATHOGENIC .89733 Confirmed somatic variant 376 NS NS 56 ENSP00000493946.1:p.Lys90Ter ENST00000647211.1:c.268A>T 16:g.53692327T>A RPGRIP1L ENST00000647211.1 3948 29168 TCGA-DF-A2KN-01 2457388 2320225 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV50905127 COSM971492 177851204 c.1945C>T p.R649* Substitution - Nonsense 38 16:53652742-53652742 - - NEUTRAL .18307 Confirmed somatic variant 419 NS primary ENSP00000493946.1:p.Arg649Ter ENST00000647211.1:c.1945C>T 16:g.53652742G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-DA-A1I1-06 2121571 1995807 skin NS NS NS malignant_melanoma NS NS NS y COSV101459482 COSM7852914 138580657 c.34G>T p.G12* Substitution - Nonsense 38 3:79018428-79018428 - - PATHOGENIC .88213 Confirmed somatic variant 540 NS NS 55 ENSP00000420637.1:p.Gly12Ter ENST00000495273.5:c.34G>T 3:g.79018428C>A FLNB_ENST00000295956 ENST00000295956.8 7809 3755 TCGA-AX-A2HG-01 2198306 2066584 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV99912246 COSM9039704 100489131 c.6616G>T p.G2206* Substitution - Nonsense 38 3:58153623-58153623 + - PATHOGENIC .9798 Confirmed somatic variant 419 NS NS 56 ENSP00000295956.4:p.Gly2206Ter ENST00000295956.8:c.6616G>T 3:g.58153623G>T ZNF274_ENST00000424679 ENST00000424679.6 1647 13068 TCGA-GN-A262-06 2121792 1996028 skin NS NS NS malignant_melanoma NS NS NS y COSV100465289 COSM7877327 123278155 c.462C>A p.C154* Substitution - Nonsense 38 19:58209998-58209998 + - NEUTRAL .22078 Confirmed somatic variant 540 NS NS 47 ENSP00000409872.3:p.Cys154Ter ENST00000424679.6:c.462C>A 19:g.58209998C>A ADAMTSL1_ENST00000431052 ENST00000431052.6 558 14632 TCGA-AA-3877-01 1651067 1565854 large_intestine colon transverse NS carcinoma adenocarcinoma NS NS y COSV99444261 COSM7565501 125937690 c.214C>T p.R72* Substitution - Nonsense 38 9:18533269-18533269 + - .56046 Confirmed somatic variant 376 NS NS 83 ENSP00000401157.2:p.Arg72Ter ENST00000431052.6:c.214C>T 9:g.18533269C>T RPGRIP1L ENST00000647211.1 3948 29168 3T08 2745714 2604417 oesophagus NS NS NS carcinoma NS NS NS y COSV50902519 COSM4979014 177850088 c.19G>T p.E7* Substitution - Nonsense 38 16:53700705-53700705 - - PATHOGENIC .97772 Confirmed somatic variant 582 NS primary 67 ENSP00000493946.1:p.Glu7Ter ENST00000647211.1:c.19G>T 16:g.53700705C>A ATP6V1C1_ENST00000518857 ENST00000518857.5 924 856 HT115 2301987 2167270 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV67778904 COSM3269688 147965819 c.565G>T p.E189* Substitution - Nonsense het 38 8:103063190-103063190 + - PATHOGENIC .99449 Variant of unknown origin 24755471 cell-line NS ENSP00000428204.1:p.Glu189Ter ENST00000518857.5:c.565G>T 8:g.103063190G>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 T593 2658231 2518390 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV54986905 COSM1441615 111180202 c.4402G>T p.E1468* Substitution - Nonsense 38 6:152433854-152433854 - - PATHOGENIC .94572 Confirmed somatic variant 27149842 NS NS 67.5 ENSP00000356222.4:p.Glu1468Ter ENST00000367253.8:c.4402G>T 6:g.152433854C>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 Thyroid-CN-WZ037T 2635098 2495494 thyroid NS NS NS carcinoma NS NS NS y COSV54930866 COSM6399443 111184559 c.4030C>T p.R1344* Substitution - Nonsense 38 6:152441249-152441249 - - PATHOGENIC .8428 Confirmed somatic variant 676 NS primary 40 ENSP00000356222.4:p.Arg1344Ter ENST00000367253.8:c.4030C>T 6:g.152441249G>A RAP1GAP2 ENST00000254695.12 2193 29176 TCGA-25-2398-01 1474986 1398685 ovary NS NS NS carcinoma serous_carcinoma NS NS y COSV99623429 COSM7517445 98442687 c.556G>T p.E186* Substitution - Nonsense 38 17:2965603-2965603 + - PATHOGENIC .95475 Confirmed somatic variant 21720365 331 NS primary 71 ENSP00000254695.8:p.Glu186Ter ENST00000254695.12:c.556G>T 17:g.2965603G>T RAP1GAP2 ENST00000254695.12 2193 29176 TCGA-25-2398-01 1474986 1398685 ovary NS NS NS carcinoma serous_carcinoma NS NS y COSV99623429 COSM7517445 98442687 c.556G>T p.E186* Substitution - Nonsense 38 17:2965603-2965603 + - PATHOGENIC .95475 Confirmed somatic variant 331 NS primary 71 ENSP00000254695.8:p.Glu186Ter ENST00000254695.12:c.556G>T 17:g.2965603G>T ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 PASXUC 2730526 2589298 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm acute_lymphoblastic_T_cell_leukaemia NS NS y COSV71394047 COSM1048634 138559722 c.2431C>T p.R811* Substitution - Nonsense 38 3:78657173-78657173 - - PATHOGENIC .97975 Confirmed somatic variant 28671688 NS primary 6 ENSP00000420637.1:p.Arg811Ter ENST00000495273.5:c.2431C>T 3:g.78657173G>A FLNB_ENST00000295956 ENST00000295956.8 7809 3755 W43T 2745060 2603763 thyroid NS NS NS carcinoma NS NS NS y COSV55885118 COSM2782479 100479432 c.4306C>T p.R1436* Substitution - Nonsense 38 3:58130824-58130824 + - PATHOGENIC .90693 Confirmed somatic variant 676 NS primary 49 ENSP00000295956.4:p.Arg1436Ter ENST00000295956.8:c.4306C>T 3:g.58130824C>T FLNB_ENST00000295956 ENST00000295956.8 7809 3755 TCGA-IB-7652-01 2196475 2064753 pancreas NS NS NS carcinoma ductal_carcinoma NS NS y COSV99911334 COSM8433988 100476867 c.5856T>A p.C1952* Substitution - Nonsense 38 3:58148333-58148333 + - PATHOGENIC .86351 Confirmed somatic variant 629 NS NS 49 ENSP00000295956.4:p.Cys1952Ter ENST00000295956.8:c.5856T>A 3:g.58148333T>A ZNF274_ENST00000424679 ENST00000424679.6 1647 13068 TCGA-39-5031-01 1781563 1685562 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV58763370 COSM714071 123279968 c.637G>T p.E213* Substitution - Nonsense 38 19:58211659-58211659 + - PATHOGENIC .98805 Confirmed somatic variant 418 fresh/frozen - NOS primary 76 ENSP00000409872.3:p.Glu213Ter ENST00000424679.6:c.637G>T 19:g.58211659G>T RPGRIP1L ENST00000647211.1 3948 29168 TCGA-ZF-AA54-01 2385840 2248672 urinary_tract bladder NS NS carcinoma NS NS NS y COSV100045883 COSM7645149 177851302 c.328G>T p.E110* Substitution - Nonsense 38 16:53692267-53692267 - - PATHOGENIC .97367 Confirmed somatic variant 413 NS primary 71 ENSP00000493946.1:p.Glu110Ter ENST00000647211.1:c.328G>T 16:g.53692267C>A MMP13_ENST00000615555 ENST00000615555.4 1152 7159 CSCC-15-T 2292463 2158527 skin head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV52823078 COSM4476329 167164755 c.205C>T p.R69* Substitution - Nonsense het 38 11:102955409-102955409 - - .64591 Confirmed somatic variant 25303977 surgery fresh/frozen metastasis 66 ENSP00000482883.1:p.Arg69Ter ENST00000615555.4:c.205C>T 11:g.102955409G>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 PD207-BL 2674322 2533654 breast NS NS NS carcinoma ER-positive_carcinoma NS NS n COSV62302833 COSM344120 119143845 c.3383C>G p.S1128* Substitution - Nonsense 38 12:124354908-124354908 - - PATHOGENIC .90798 Confirmed somatic variant 28270497 surgery fresh/frozen primary ENSP00000384202.1:p.Ser1128Ter ENST00000404621.5:c.3383C>G 12:g.124354908G>C ADAMTSL1_ENST00000431052 ENST00000431052.6 558 14632 TCGA-77-8139-01 2195183 2063461 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99444025 COSM8725210 125936151 c.117G>A p.W39* Substitution - Nonsense 38 9:18504882-18504882 + - PATHOGENIC .99186 Confirmed somatic variant 418 NS NS 72 ENSP00000401157.2:p.Trp39Ter ENST00000431052.6:c.117G>A 9:g.18504882G>A ADAMTSL1_ENST00000431052 ENST00000431052.6 558 14632 S01533 2864356 2719516 lung NS NS NS carcinoma large_cell_neuroendocrine_carcinoma NS NS y COSV52824764 COSM3091087 125938431 c.432C>A p.C144* Substitution - Nonsense 38 9:18574224-18574224 + - PATHOGENIC .95872 Confirmed somatic variant 29535388 surgery fresh/frozen NS 63 ENSP00000401157.2:p.Cys144Ter ENST00000431052.6:c.432C>A 9:g.18574224C>A RPGRIP1L ENST00000647211.1 3948 29168 IGC-13-1063 2662369 2522493 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV50914633 COSM6522858 177852162 c.2428C>T p.Q810* Substitution - Nonsense 38 16:53645880-53645880 - - PATHOGENIC .94311 Confirmed somatic variant 27923066 surgery fresh/frozen primary ENSP00000493946.1:p.Gln810Ter ENST00000647211.1:c.2428C>T 16:g.53645880G>A RPGRIP1L ENST00000647211.1 3948 29168 3N08-VS-3T08 2582903 2444158 oesophagus NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV50902519 COSM4979014 177850088 c.19G>T p.E7* Substitution - Nonsense 38 16:53700705-53700705 - - PATHOGENIC .97772 Confirmed somatic variant 26759717 surgery - NOS NS 67 ENSP00000493946.1:p.Glu7Ter ENST00000647211.1:c.19G>T 16:g.53700705C>A RPGRIP1L ENST00000647211.1 3948 29168 TCGA-P3-A5Q6-01 2193639 2061917 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV100046943 COSM8348316 177851722 c.848C>A p.S283* Substitution - Nonsense 38 16:53675051-53675051 - - PATHOGENIC .96522 Confirmed somatic variant 627 NS NS 49 ENSP00000493946.1:p.Ser283Ter ENST00000647211.1:c.848C>A 16:g.53675051G>T ATP6V1C1_ENST00000518857 ENST00000518857.5 924 856 LS174T 2301997 2167280 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV67778068 COSM3269678 147962422 c.238C>T p.R80* Substitution - Nonsense het 38 8:103052812-103052812 + - PATHOGENIC .88229 Reported in another cancer sample as somatic 24755471 cell-line NS ENSP00000428204.1:p.Arg80Ter ENST00000518857.5:c.238C>T 8:g.103052812C>T ATP6V1C1_ENST00000518857 ENST00000518857.5 924 856 LS180 2301998 2167281 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV67778068 COSM3269678 147962422 c.238C>T p.R80* Substitution - Nonsense het 38 8:103052812-103052812 + - PATHOGENIC .88229 Reported in another cancer sample as somatic 24755471 cell-line NS ENSP00000428204.1:p.Arg80Ter ENST00000518857.5:c.238C>T 8:g.103052812C>T ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 GBM20-R2 2813469 2669861 central_nervous_system brain NS NS glioma gliomatosis_cerebri NS NS y COSV101458495 COSM9208634 138588349 c.1356G>A p.W452* Substitution - Nonsense 38 3:78670180-78670180 - - PATHOGENIC .98594 Confirmed somatic variant 28263318 surgery fresh/frozen recurrent 57 ENSP00000420637.1:p.Trp452Ter ENST00000495273.5:c.1356G>A 3:g.78670180C>T KLHL36 ENST00000564996.5 1851 17844 188 2097234 1975298 urinary_tract bladder NS NS carcinoma NS NS NS y COSV50725444 COSM1741562 160747942 c.1668G>A p.W556* Substitution - Nonsense 38 16:84661950-84661950 + - PATHOGENIC .99506 Reported in another cancer sample as somatic 24121791 NS NS ENSP00000456743.1:p.Trp556Ter ENST00000564996.5:c.1668G>A 16:g.84661950G>A KLHL36 ENST00000564996.5 1851 17844 H157 2776238 2634374 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99077157 COSM7374186 160748624 c.457G>T p.E153* Substitution - Nonsense 38 16:84657264-84657264 + - PATHOGENIC .96172 Reported in another cancer sample as somatic 29681454 NS NS 59 ENSP00000456743.1:p.Glu153Ter ENST00000564996.5:c.457G>T 16:g.84657264G>T RPGRIP1L ENST00000647211.1 3948 29168 TCGA-A6-5661-01 1650944 1565731 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS y COSV50903640 COSM971493 177850373 c.1804C>T p.R602* Substitution - Nonsense 38 16:53652883-53652883 - - PATHOGENIC .83157 Confirmed somatic variant 376 NS NS 80 ENSP00000493946.1:p.Arg602Ter ENST00000647211.1:c.1804C>T 16:g.53652883G>A RPGRIP1L ENST00000647211.1 3948 29168 TCGA-EY-A1GI-01 2198283 2066561 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV50902645 COSM971501 177850559 c.751C>T p.R251* Substitution - Nonsense 38 16:53686458-53686458 - - PATHOGENIC .94214 Confirmed somatic variant 419 NS NS 52 ENSP00000493946.1:p.Arg251Ter ENST00000647211.1:c.751C>T 16:g.53686458G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-77-7335-01 2195028 2063306 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99559327 COSM8797824 111187428 c.697A>T p.R233* Substitution - Nonsense 38 6:152505282-152505282 - - PATHOGENIC .95724 Confirmed somatic variant 418 NS NS 62 ENSP00000356222.4:p.Arg233Ter ENST00000367253.8:c.697A>T 6:g.152505282T>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 NPC5F 2366780 2229638 upper_aerodigestive_tract pharynx nasopharynx NS carcinoma nasopharyngeal_carcinoma NS NS y COSV54946482 COSM4996663 111214776 c.4652T>A p.L1551* Substitution - Nonsense 38 6:152430519-152430519 - - NEUTRAL .10122 Confirmed somatic variant 24952746 NS primary 64 ENSP00000356222.4:p.Leu1551Ter ENST00000367253.8:c.4652T>A 6:g.152430519A>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 MSU2-c 2809979 2666641 large_intestine caecum NS NS carcinoma adenocarcinoma NS NS y COSV99584526 COSM9175336 111182296 c.253C>T p.R85* Substitution - Nonsense 38 6:152520515-152520515 - - PATHOGENIC .94612 Confirmed somatic variant 26336987 surgery fresh/frozen primary 66 ENSP00000356222.4:p.Arg85Ter ENST00000367253.8:c.253C>T 6:g.152520515G>A PBX1_ENST00000560641 ENST00000560641.5 978 8632 TCGA-AX-A0J1-01 1783377 1687376 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV61539023 COSM898867 159989556 c.175G>T p.E59* Substitution - Nonsense het 38 1:164792718-164792718 + - PATHOGENIC .99088 Variant of unknown origin 419 fresh/frozen - NOS primary 80 ENSP00000452727.1:p.Glu59Ter ENST00000560641.5:c.175G>T 1:g.164792718G>T GATA3 ENST00000379328.8 1335 4172 TCGA-33-4566-01 1781104 1685103 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV60522436 COSM685253 116238070 c.200C>A p.S67* Substitution - Nonsense 38 10:8055855-8055855 + - PATHOGENIC .98912 Variant of unknown origin 418 fresh/frozen - NOS primary 40 ENSP00000368632.3:p.Ser67Ter ENST00000379328.8:c.200C>A 10:g.8055855C>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 MBC_175 2662676 2522800 breast NS NS NS carcinoma ER-PR-positive_carcinoma NS NS y COSV54900135 COSM6582423 111179255 c.2950G>T p.E984* Substitution - Nonsense 38 6:152453663-152453663 - - PATHOGENIC .9217 Confirmed somatic variant 28027327 fresh/frozen - NOS metastasis ENSP00000356222.4:p.Glu984Ter ENST00000367253.8:c.2950G>T 6:g.152453663C>A RPGRIP1L ENST00000647211.1 3948 29168 TCGA-B5-A1MR-01 2198376 2066654 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV50903274 COSM6769134 177853129 c.2239C>T p.R747* Substitution - Nonsense 38 16:53649029-53649029 - - PATHOGENIC .87685 Confirmed somatic variant 419 NS NS 65 ENSP00000493946.1:p.Arg747Ter ENST00000647211.1:c.2239C>T 16:g.53649029G>A ATP6V1C1_ENST00000518857 ENST00000518857.5 924 856 C086 2465276 2328109 NS NS NS NS malignant_melanoma NS NS NS y COSV67778881 COSM5527148 147963454 c.190C>T p.R64* Substitution - Nonsense 38 8:103052764-103052764 + - PATHOGENIC .8595 Confirmed somatic variant 23890154 cell-line metastasis ENSP00000428204.1:p.Arg64Ter ENST00000518857.5:c.190C>T 8:g.103052764C>T PTH_ENST00000529816 ENST00000529816.1 348 9606 CHC451T 2340301 2205284 liver NS NS NS carcinoma hepatocellular_carcinoma NS NS y COSV56378690 COSM4957316 152482868 c.109C>T p.Q37* Substitution - Nonsense 38 11:13492644-13492644 - - PATHOGENIC .96318 Confirmed somatic variant 381 NS primary 75 ENSP00000433208.1:p.Gln37Ter ENST00000529816.1:c.109C>T 11:g.13492644G>A ADAMTSL1_ENST00000431052 ENST00000431052.6 558 14632 PD31209a 2894854 2749342 skin extremity NS NS malignant_melanoma NS NS NS y COSV105108146 COSM9872176 125943223 c.265C>T p.R89* Substitution - Nonsense 38 9:18574057-18574057 + - PATHOGENIC .98051 Confirmed somatic variant 33024263 surgery-fixed metastasis 41 ENSP00000401157.2:p.Arg89Ter ENST00000431052.6:c.265C>T 9:g.18574057C>T PPHLN1_ENST00000449194 ENST00000449194.6 1047 19369 TCGA-AA-3510-01 1650974 1565761 large_intestine colon transverse NS carcinoma adenocarcinoma NS NS y COSV56733528 COSM1361545 133522179 c.781G>T p.E261* Substitution - Nonsense 38 12:42398923-42398923 + - PATHOGENIC .95563 Confirmed somatic variant 376 NS NS 70 ENSP00000390681.2:p.Glu261Ter ENST00000449194.6:c.781G>T 12:g.42398923G>T RPGRIP1L ENST00000647211.1 3948 29168 T1849 2658271 2518430 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV50905564 COSM6769126 177853595 c.340C>T p.Q114* Substitution - Nonsense 38 16:53692255-53692255 - - PATHOGENIC .95534 Confirmed somatic variant 27149842 NS NS 79.25 ENSP00000493946.1:p.Gln114Ter ENST00000647211.1:c.340C>T 16:g.53692255G>A RPGRIP1L ENST00000647211.1 3948 29168 DUMC-29 2748720 2607423 central_nervous_system parietal_lobe NS NS glioma astrocytoma_Grade_IV glioblastoma_multiforme NS y COSV50903640 COSM971493 177850373 c.1804C>T p.R602* Substitution - Nonsense 38 16:53652883-53652883 - - PATHOGENIC .83157 Confirmed somatic variant 29802247 surgery fresh/frozen NS 55 ENSP00000493946.1:p.Arg602Ter ENST00000647211.1:c.1804C>T 16:g.53652883G>A RPGRIP1L ENST00000647211.1 3948 29168 SB_06 2498852 2361203 pancreas NS NS NS carcinoma ductal_carcinoma NS NS y COSV50902645 COSM971501 177850559 c.751C>T p.R251* Substitution - Nonsense 38 16:53686458-53686458 - - PATHOGENIC .94214 Confirmed somatic variant 26962861 cell-line primary 70 ENSP00000493946.1:p.Arg251Ter ENST00000647211.1:c.751C>T 16:g.53686458G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 P1_Pre-RAFi_EGFRi 2907493 2761702 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV105842737 COSM10012866 111221864 c.85C>T p.Q29* Substitution - Nonsense 38 6:152540004-152540004 - - PATHOGENIC .9583 Confirmed somatic variant 25673644 surgery-fixed metastasis ENSP00000356222.4:p.Gln29Ter ENST00000367253.8:c.85C>T 6:g.152540004G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-EY-A1G8-01 2198478 2066756 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV55086157 COSM4997664 111194449 c.3004C>T p.R1002* Substitution - Nonsense 38 6:152453609-152453609 - - NEUTRAL .16467 Confirmed somatic variant 419 NS NS 83 ENSP00000356222.4:p.Arg1002Ter ENST00000367253.8:c.3004C>T 6:g.152453609G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 PD42114a 2894823 2749311 skin head_neck NS NS malignant_melanoma superficial_spreading NS NS y COSV54915173 COSM1672926 111170736 c.661C>T p.R221* Substitution - Nonsense 38 6:152505318-152505318 - - PATHOGENIC .95524 Confirmed somatic variant 33024263 surgery-fixed metastasis 54 ENSP00000356222.4:p.Arg221Ter ENST00000367253.8:c.661C>T 6:g.152505318G>A PBX1_ENST00000560641 ENST00000560641.5 978 8632 GBNEC_14 2907845 2762028 biliary_tract gallbladder NS NS carcinoma small_cell_carcinoma NS NS y COSV105905933 COSM10020018 159998269 c.46G>T p.E16* Substitution - Nonsense 38 1:164792589-164792589 + - PATHOGENIC .9723 Variant of unknown origin 33563892 surgery-fixed NS 60 ENSP00000452727.1:p.Glu16Ter ENST00000560641.5:c.46G>T 1:g.164792589G>T ATP6V1C1_ENST00000518857 ENST00000518857.5 924 856 2177 2370331 2233129 kidney NS NS NS carcinoma chromophobe_renal_cell_carcinoma NS NS y COSV67778276 COSM5011944 147963860 c.235G>T p.E79* Substitution - Nonsense 38 8:103052809-103052809 + - PATHOGENIC .99176 Confirmed somatic variant 25401301 surgery fresh/frozen primary 48 ENSP00000428204.1:p.Glu79Ter ENST00000518857.5:c.235G>T 8:g.103052809G>T PTH_ENST00000529816 ENST00000529816.1 348 9606 36 2159420 2028042 skin NS NS NS malignant_melanoma NS NS NS y COSV56378419 COSM3735812 152482717 c.247C>T p.R83* Substitution - Nonsense 38 11:13492506-13492506 - - NEUTRAL .2908 Confirmed somatic variant 24838835 surgery fresh/frozen NS ENSP00000433208.1:p.Arg83Ter ENST00000529816.1:c.247C>T 11:g.13492506G>A PTH_ENST00000529816 ENST00000529816.1 348 9606 TCGA-QK-A8Z8-01 2339575 2204558 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99961719 COSM8352840 152483207 c.283G>T p.E95* Substitution - Nonsense 38 11:13492470-13492470 - - NEUTRAL .0836 Confirmed somatic variant 627 NS primary 60 ENSP00000433208.1:p.Glu95Ter ENST00000529816.1:c.283G>T 11:g.13492470C>A PTH_ENST00000529816 ENST00000529816.1 348 9606 TCGA-EE-A2GS-06 2121668 1995904 skin NS NS NS malignant_melanoma NS NS NS y COSV56378753 COSM3445576 152482974 c.161G>A p.W54* Substitution - Nonsense 38 11:13492592-13492592 - - PATHOGENIC .94545 Confirmed somatic variant 540 NS NS 28 ENSP00000433208.1:p.Trp54Ter ENST00000529816.1:c.161G>A 11:g.13492592C>T PTH_ENST00000529816 ENST00000529816.1 348 9606 PASLZM 2367612 2230450 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm acute_lymphoblastic_B_cell_leukaemia NS NS y COSV56378419 COSM3735812 152482717 c.247C>T p.R83* Substitution - Nonsense 38 11:13492506-13492506 - - NEUTRAL .2908 Confirmed somatic variant 25790293 NS NS ENSP00000433208.1:p.Arg83Ter ENST00000529816.1:c.247C>T 11:g.13492506G>A GATA3 ENST00000379328.8 1335 4172 2602998 2602998 2463889 NS NS NS NS carcinoma adenocarcinoma of_unknown_primary NS n COSM6023955 178384931 c.? p.S382* Substitution - Nonsense + - Variant of unknown origin 26182302 surgery-fixed metastasis ENSP00000368632.3:p.Ser382Ter ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-EE-A2GJ-06 2121660 1995896 skin NS NS NS malignant_melanoma NS NS NS y COSV71396166 COSM3597711 138569770 c.1996C>T p.Q666* Substitution - Nonsense 38 3:78661246-78661246 - - PATHOGENIC .99398 Confirmed somatic variant 540 NS NS 83 ENSP00000420637.1:p.Gln666Ter ENST00000495273.5:c.1996C>T 3:g.78661246G>A KLHL36 ENST00000564996.5 1851 17844 TCGA-BR-8368-01 2197953 2066231 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV50720552 COSM4063310 160749287 c.1564C>T p.Q522* Substitution - Nonsense 38 16:84661846-84661846 + - PATHOGENIC .94566 Confirmed somatic variant 541 NS NS 84 ENSP00000456743.1:p.Gln522Ter ENST00000564996.5:c.1564C>T 16:g.84661846C>T GATA3 ENST00000379328.8 1335 4172 BL-15-D28407 2905483 2759739 lung NS NS NS carcinoma non_small_cell_carcinoma NS NS n COSV105915907 COSM9993730 116235291 c.1120A>T p.K374* Substitution - Nonsense 38 10:8073808-8073808 + - PATHOGENIC .92904 Variant of unknown origin 32321774 surgery-fixed primary ENSP00000368632.3:p.Lys374Ter ENST00000379328.8:c.1120A>T 10:g.8073808A>T PBX1_ENST00000560641 ENST00000560641.5 978 8632 TCGA-B5-A11E-01 1783399 1687398 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV63342742 COSM898869 159995190 c.235C>T p.R79* Substitution - Nonsense het 38 1:164799738-164799738 + - PATHOGENIC .80355 Reported in another cancer sample as somatic 419 fresh/frozen - NOS primary 53 ENSP00000452727.1:p.Arg79Ter ENST00000560641.5:c.235C>T 1:g.164799738C>T RAP1GAP2 ENST00000254695.12 2193 29176 TCGA-D3-A2JP-06 2121524 1995760 skin NS NS NS malignant_melanoma NS NS NS y COSV99624009 COSM8150211 98449872 c.190G>T p.E64* Substitution - Nonsense 38 17:2957783-2957783 + - PATHOGENIC .97715 Confirmed somatic variant 540 NS NS 37 ENSP00000254695.8:p.Glu64Ter ENST00000254695.12:c.190G>T 17:g.2957783G>T GATA3 ENST00000379328.8 1335 4172 LS174T 2301997 2167280 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV60517060 COSM1966369 116232569 c.889C>T p.Q297* Substitution - Nonsense het 38 10:8064103-8064103 + - PATHOGENIC .93792 Variant of unknown origin 24755471 cell-line NS ENSP00000368632.3:p.Gln297Ter ENST00000379328.8:c.889C>T 10:g.8064103C>T ATP6V1C1_ENST00000518857 ENST00000518857.5 924 856 PD42117a 2894826 2749314 skin head_neck NS NS malignant_melanoma NS NS NS y COSV105334233 COSM9918607 147966299 c.166C>T p.Q56* Substitution - Nonsense 38 8:103052740-103052740 + - PATHOGENIC .98714 Confirmed somatic variant 33024263 surgery-fixed metastasis ENSP00000428204.1:p.Gln56Ter ENST00000518857.5:c.166C>T 8:g.103052740C>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 T3705 2658685 2518844 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV54961073 COSM6794688 111227694 c.4897C>T p.Q1633* Substitution - Nonsense 38 6:152428284-152428284 - - PATHOGENIC .92154 Confirmed somatic variant 27149842 NS NS 65.41 ENSP00000356222.4:p.Gln1633Ter ENST00000367253.8:c.4897C>T 6:g.152428284G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 IGC-12-1064 2662359 2522483 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV71396286 COSM6544543 138582675 c.1782C>A p.Y594* Substitution - Nonsense 38 3:78667959-78667959 - - PATHOGENIC .96954 Confirmed somatic variant 27923066 surgery fresh/frozen primary ENSP00000420637.1:p.Tyr594Ter ENST00000495273.5:c.1782C>A 3:g.78667959G>T KLHL36 ENST00000564996.5 1851 17844 TCGA-44-A4SS-01 2194874 2063152 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV99077157 COSM7374186 160748624 c.457G>T p.E153* Substitution - Nonsense 38 16:84657264-84657264 + - PATHOGENIC .96172 Confirmed somatic variant 417 NS NS 73 ENSP00000456743.1:p.Glu153Ter ENST00000564996.5:c.457G>T 16:g.84657264G>T PPHLN1_ENST00000449194 ENST00000449194.6 1047 19369 2862149 2862149 2717351 lung NS NS NS carcinoma small_cell_carcinoma NS NS y COSV105068973 COSM9582749 133522446 c.13G>T p.G5* Substitution - Nonsense 38 12:42335915-42335915 + - PATHOGENIC .96261 Confirmed somatic variant 27873319 surgery fresh/frozen NS 48 ENSP00000390681.2:p.Gly5Ter ENST00000449194.6:c.13G>T 12:g.42335915G>T GATA3 ENST00000379328.8 1335 4172 12232_S2_L001_R1_001 2823406 2679259 breast NS NS NS carcinoma ductal_carcinoma NS NS n COSV60515523 COSM41680 116232157 c.1099C>T p.R367* Substitution - Nonsense 38 10:8073787-8073787 + - PATHOGENIC .75574 Reported in another cancer sample as somatic 31854063 surgery fresh/frozen primary 40 ENSP00000368632.3:p.Arg367Ter ENST00000379328.8:c.1099C>T 10:g.8073787C>T NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 W30T 2745054 2603757 thyroid NS NS NS carcinoma NS NS NS y COSV62295189 COSM6420816 119145278 c.1621A>T p.K541* Substitution - Nonsense 38 12:124402420-124402420 - - PATHOGENIC .95364 Confirmed somatic variant 676 NS primary 27 ENSP00000384202.1:p.Lys541Ter ENST00000404621.5:c.1621A>T 12:g.124402420T>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 MO_1071 2467319 2330150 prostate NS NS NS carcinoma NS NS NS y COSV62299294 COSM5563388 119144508 c.592C>T p.Q198* Substitution - Nonsense het 38 12:124466286-124466286 - - PATHOGENIC .97074 Confirmed somatic variant 26000489 surgery - NOS metastasis 54 ENSP00000384202.1:p.Gln198Ter ENST00000404621.5:c.592C>T 12:g.124466286G>A RPGRIP1L ENST00000647211.1 3948 29168 CRC62 2730763 2589532 large_intestine rectum NS NS carcinoma adenocarcinoma NS NS y COSV105858296 COSM10050214 177852388 c.2788G>T p.E930* Substitution - Nonsense 38 16:53641371-53641371 - - PATHOGENIC .79372 Confirmed somatic variant 26416732 xenograft metastasis 69 ENSP00000493946.1:p.Glu930Ter ENST00000647211.1:c.2788G>T 16:g.53641371C>A RPGRIP1L ENST00000647211.1 3948 29168 3N08-VS-3T08 2363586 2226513 oesophagus NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV50902519 COSM4979014 177850088 c.19G>T p.E7* Substitution - Nonsense 38 16:53700705-53700705 - - PATHOGENIC .97772 Confirmed somatic variant 25839328 NS NS 67 ENSP00000493946.1:p.Glu7Ter ENST00000647211.1:c.19G>T 16:g.53700705C>A RPGRIP1L ENST00000647211.1 3948 29168 TCGA-AM-5821-01 1651151 1565938 large_intestine colon sigmoid NS carcinoma adenocarcinoma NS NS y COSV50905127 COSM971492 177851204 c.1945C>T p.R649* Substitution - Nonsense 38 16:53652742-53652742 - - NEUTRAL .18307 Confirmed somatic variant 376 NS NS 68 ENSP00000493946.1:p.Arg649Ter ENST00000647211.1:c.1945C>T 16:g.53652742G>A RPGRIP1L ENST00000647211.1 3948 29168 U251 1998487 1883559 central_nervous_system brain NS NS glioma NS NS NS y COSV50905239 COSM1679092 177850214 c.1489G>T p.E497* Substitution - Nonsense het 38 16:53657545-53657545 - - PATHOGENIC .97915 Confirmed somatic variant 23856246 cell-line primary ENSP00000493946.1:p.Glu497Ter ENST00000647211.1:c.1489G>T 16:g.53657545C>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 CSCC-19-T 2292467 2158531 skin head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV55015588 COSM4454197 111203735 c.4315A>T p.K1439* Substitution - Nonsense het 38 6:152433941-152433941 - - PATHOGENIC .93294 Confirmed somatic variant 25303977 surgery fresh/frozen primary 48 ENSP00000356222.4:p.Lys1439Ter ENST00000367253.8:c.4315A>T 6:g.152433941T>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 5-NB015-T1 2869815 2724812 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV105030233 COSM9663448 111215621 c.2753G>A p.W918* Substitution - Nonsense 38 6:152455565-152455565 - - PATHOGENIC .99162 Confirmed somatic variant 26950094 surgery fresh/frozen NS 48 ENSP00000356222.4:p.Trp918Ter ENST00000367253.8:c.2753G>A 6:g.152455565C>T RAP1GAP2 ENST00000254695.12 2193 29176 H2126 2776264 2634400 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV54589735 COSM3179297 98456336 c.1093C>T p.Q365* Substitution - Nonsense 38 17:2998269-2998269 + - PATHOGENIC .98545 Confirmed somatic variant 29681454 NS NS 65 ENSP00000254695.8:p.Gln365Ter ENST00000254695.12:c.1093C>T 17:g.2998269C>T GATA3 ENST00000379328.8 1335 4172 BR99-0348 1326172 1236667 breast NS NS NS carcinoma NS NS NS n COSV60515523 COSM41680 116232157 c.1099C>T p.R367* Substitution - Nonsense het 38 10:8073787-8073787 + - PATHOGENIC .75574 Reported in another cancer sample as somatic 15361840 surgery fresh/frozen NS ENSP00000368632.3:p.Arg367Ter ENST00000379328.8:c.1099C>T 10:g.8073787C>T GATA3 ENST00000379328.8 1335 4172 LS180 2301998 2167281 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV60517060 COSM1966369 116232569 c.889C>T p.Q297* Substitution - Nonsense het 38 10:8064103-8064103 + - PATHOGENIC .93792 Variant of unknown origin 24755471 cell-line NS ENSP00000368632.3:p.Gln297Ter ENST00000379328.8:c.889C>T 10:g.8064103C>T GATA3 ENST00000379328.8 1335 4172 BL-16-A51867 2905647 2759903 lung NS NS NS carcinoma non_small_cell_carcinoma NS NS n COSV105826529 COSM9522417 116235989 c.787G>T p.E263* Substitution - Nonsense 38 10:8064001-8064001 + - Reported in another cancer sample as somatic 32321774 surgery-fixed metastasis ENSP00000368632.3:p.Glu263Ter ENST00000379328.8:c.787G>T 10:g.8064001G>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-AA-3510-01 1650974 1565761 large_intestine colon transverse NS carcinoma adenocarcinoma NS NS y COSV54915173 COSM1672926 111170736 c.661C>T p.R221* Substitution - Nonsense 38 6:152505318-152505318 - - PATHOGENIC .95524 Confirmed somatic variant 376 NS NS 70 ENSP00000356222.4:p.Arg221Ter ENST00000367253.8:c.661C>T 6:g.152505318G>A RAP1GAP2 ENST00000254695.12 2193 29176 TCGA-D3-A2JB-06 2121514 1995750 skin NS NS NS malignant_melanoma NS NS NS y COSV99622167 COSM7893531 98447590 c.574G>T p.E192* Substitution - Nonsense 38 17:2965621-2965621 + - PATHOGENIC .95474 Confirmed somatic variant 540 NS NS 70 ENSP00000254695.8:p.Glu192Ter ENST00000254695.12:c.574G>T 17:g.2965621G>T RAP1GAP2 ENST00000254695.12 2193 29176 SJHGG034_D 2307367 2172571 central_nervous_system brain NS NS glioma astrocytoma_Grade_IV glioblastoma_multiforme NS y COSV54571699 COSM4970542 98444436 c.2119A>T p.R707* Substitution - Nonsense 38 17:3030933-3030933 + - PATHOGENIC .98191 Confirmed somatic variant 24705251 surgery - NOS NS 9 ENSP00000254695.8:p.Arg707Ter ENST00000254695.12:c.2119A>T 17:g.3030933A>T ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-CA-6718-01 1651189 1565976 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS y COSV71392517 COSM263384 138583509 c.4798G>T p.E1600* Substitution - Nonsense 38 3:78600121-78600121 - - PATHOGENIC .98971 Confirmed somatic variant 376 NS NS 46 ENSP00000420637.1:p.Glu1600Ter ENST00000495273.5:c.4798G>T 3:g.78600121C>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-CA-6718-01 1651189 1565976 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS y COSV71392517 COSM263384 138583509 c.4798G>T p.E1600* Substitution - Nonsense 38 3:78600121-78600121 - - PATHOGENIC .98971 Confirmed somatic variant 22810696 376 NS NS 46 ENSP00000420637.1:p.Glu1600Ter ENST00000495273.5:c.4798G>T 3:g.78600121C>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 IGC-12-1115 2662363 2522487 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV71398439 COSM6511239 138596151 c.1384C>T p.Q462* Substitution - Nonsense 38 3:78670152-78670152 - - PATHOGENIC .99148 Confirmed somatic variant 27923066 surgery fresh/frozen primary ENSP00000420637.1:p.Gln462Ter ENST00000495273.5:c.1384C>T 3:g.78670152G>A PPHLN1_ENST00000449194 ENST00000449194.6 1047 19369 2588316 2588316 2449452 upper_aerodigestive_tract pharynx NS NS carcinoma squamous_cell_carcinoma NS NS y COSV56736427 COSM6056008 133512617 c.58C>T p.R20* Substitution - Nonsense 38 12:42335960-42335960 + - PATHOGENIC .84616 Confirmed somatic variant 26619122 NS primary 70 ENSP00000390681.2:p.Arg20Ter ENST00000449194.6:c.58C>T 12:g.42335960C>T GATA3 ENST00000379328.8 1335 4172 Grade1-03 2906723 2760974 meninges NS NS NS meningioma microcystic NS NS n COSV60519827 COSM5752635 116241753 c.1128C>A p.C376* Substitution - Nonsense 38 10:8073816-8073816 + - PATHOGENIC .81903 Reported in another cancer sample as somatic 32716568 surgery-fixed primary 10 ENSP00000368632.3:p.Cys376Ter ENST00000379328.8:c.1128C>A 10:g.8073816C>A GATA3 ENST00000379328.8 1335 4172 H_LV-403-1316341 2768101 2626320 breast NS NS NS carcinoma ER-positive_carcinoma NS NS n COSV60515523 COSM41680 116232157 c.1099C>T p.R367* Substitution - Nonsense 38 10:8073787-8073787 + - PATHOGENIC .75574 Reported in another cancer sample as somatic 30181556 surgery-fixed NS ENSP00000368632.3:p.Arg367Ter ENST00000379328.8:c.1099C>T 10:g.8073787C>T MIER2 ENST00000264819.6 1638 29210 TCGA-29-1698-01 1731237 1637203 ovary NS NS NS carcinoma serous_carcinoma NS NS y COSV53395855 COSM1325350 100634549 c.127C>T p.Q43* Substitution - Nonsense het 38 19:334516-334516 - - PATHOGENIC .91797 Variant of unknown origin 331 NS primary 53 ENSP00000264819.3:p.Gln43Ter ENST00000264819.6:c.127C>T 19:g.334516G>A MIER2 ENST00000264819.6 1638 29210 2834130 2834130 2689914 skin mucosal anorectal NS malignant_melanoma NS NS NS y COSV104588368 COSM9322118 100634461 c.400G>T p.E134* Substitution - Nonsense 38 19:327226-327226 - - PATHOGENIC .99065 Variant of unknown origin 28296713 surgery - NOS primary 59 ENSP00000264819.3:p.Glu134Ter ENST00000264819.6:c.400G>T 19:g.327226C>A MIER2 ENST00000264819.6 1638 29210 LUAD-S01357 1765260 1669580 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV53397116 COSM386904 100636043 c.1020C>G p.Y340* Substitution - Nonsense 38 19:308890-308890 - - PATHOGENIC .89082 Variant of unknown origin 22980975 surgery - NOS primary 57 ENSP00000264819.3:p.Tyr340Ter ENST00000264819.6:c.1020C>G 19:g.308890G>C RPGRIP1L ENST00000647211.1 3948 29168 TCGA-F5-6814-01 1651640 1566427 large_intestine rectum NS NS carcinoma adenocarcinoma NS NS y COSV50906278 COSM3421037 177853136 c.2413C>T p.R805* Substitution - Nonsense 38 16:53645895-53645895 - - PATHOGENIC .82679 Confirmed somatic variant 375 NS primary 57 ENSP00000493946.1:p.Arg805Ter ENST00000647211.1:c.2413C>T 16:g.53645895G>A ATP6V1C1_ENST00000518857 ENST00000518857.5 924 856 TCGA-W3-AA1V-06 2340244 2205227 skin NS NS NS malignant_melanoma NS NS NS y COSV67778068 COSM3269678 147962422 c.238C>T p.R80* Substitution - Nonsense 38 8:103052812-103052812 + - PATHOGENIC .88229 Confirmed somatic variant 540 NS NS 63 ENSP00000428204.1:p.Arg80Ter ENST00000518857.5:c.238C>T 8:g.103052812C>T PPHLN1_ENST00000449194 ENST00000449194.6 1047 19369 2734449 2734449 2593158 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma NS NS y COSV99872139 COSM9167722 133517384 c.619G>T p.E207* Substitution - Nonsense 38 12:42393597-42393597 + - PATHOGENIC .90471 Confirmed somatic variant 25752595 blood-bone marrow NS 70 ENSP00000390681.2:p.Glu207Ter ENST00000449194.6:c.619G>T 12:g.42393597G>T GATA3 ENST00000379328.8 1335 4172 H_KU-794-1316382 2768072 2626291 breast NS NS NS carcinoma ER-positive_carcinoma NS NS n COSV60515523 COSM41680 116232157 c.1099C>T p.R367* Substitution - Nonsense 38 10:8073787-8073787 + - PATHOGENIC .75574 Reported in another cancer sample as somatic 30181556 surgery-fixed NS ENSP00000368632.3:p.Arg367Ter ENST00000379328.8:c.1099C>T 10:g.8073787C>T GATA3 ENST00000379328.8 1335 4172 BL-16-D50482 2905577 2759833 NS NS NS NS malignant_melanoma NS NS NS n COSV100650804 COSM8088283 116241525 c.335G>A p.W112* Substitution - Nonsense 38 10:8058398-8058398 + - PATHOGENIC .96695 Reported in another cancer sample as somatic 32321774 surgery-fixed metastasis ENSP00000368632.3:p.Trp112Ter ENST00000379328.8:c.335G>A 10:g.8058398G>A NCOR2_ENST00000404621 ENST00000404621.5 7377 7673 W30T 2745054 2603757 thyroid NS NS NS carcinoma NS NS NS y COSV62295168 COSM6420273 119145257 c.1795C>T p.Q599* Substitution - Nonsense 38 12:124400516-124400516 - - PATHOGENIC .99433 Confirmed somatic variant 676 NS primary 27 ENSP00000384202.1:p.Gln599Ter ENST00000404621.5:c.1795C>T 12:g.124400516G>A RPGRIP1L ENST00000647211.1 3948 29168 TCGA-AM-5820-01 1651150 1565937 large_intestine colon sigmoid NS carcinoma adenocarcinoma NS NS y COSV50905127 COSM971492 177851204 c.1945C>T p.R649* Substitution - Nonsense 38 16:53652742-53652742 - - NEUTRAL .18307 Confirmed somatic variant 376 NS NS 59 ENSP00000493946.1:p.Arg649Ter ENST00000647211.1:c.1945C>T 16:g.53652742G>A RPGRIP1L ENST00000647211.1 3948 29168 CHG-7T 2634250 2494646 liver NS NS NS other neoplasm NS NS y COSV50904895 COSM6333185 177851320 c.1737C>A p.Y579* Substitution - Nonsense 38 16:53652950-53652950 - - PATHOGENIC .93077 Confirmed somatic variant 660 NS primary 60 ENSP00000493946.1:p.Tyr579Ter ENST00000647211.1:c.1737C>A 16:g.53652950G>T RPGRIP1L ENST00000647211.1 3948 29168 Au4 2466843 2329674 skin scalp NS NS malignant_melanoma desmoplastic NS NS y COSV50903035 COSM3510264 177851963 c.2560C>T p.R854* Substitution - Nonsense 38 16:53645748-53645748 - - PATHOGENIC .87802 Confirmed somatic variant 26343386 surgery fresh/frozen NS 77 ENSP00000493946.1:p.Arg854Ter ENST00000647211.1:c.2560C>T 16:g.53645748G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-AA-3510-01 1650974 1565761 large_intestine colon transverse NS carcinoma adenocarcinoma NS NS y COSV99559680 COSM7601631 111223803 c.3715G>T p.E1239* Substitution - Nonsense 38 6:152444533-152444533 - - PATHOGENIC .99106 Confirmed somatic variant 376 NS NS 70 ENSP00000356222.4:p.Glu1239Ter ENST00000367253.8:c.3715G>T 6:g.152444533C>A GATA3 ENST00000379328.8 1335 4172 H_KU-4236-1316247 2767962 2626181 breast NS NS NS carcinoma ER-positive_carcinoma NS NS n COSV60515523 COSM41680 116232157 c.1099C>T p.R367* Substitution - Nonsense 38 10:8073787-8073787 + - PATHOGENIC .75574 Reported in another cancer sample as somatic 30181556 surgery-fixed NS ENSP00000368632.3:p.Arg367Ter ENST00000379328.8:c.1099C>T 10:g.8073787C>T TMEM128_ENST00000254742 ENST00000254742.6 426 28201 5-VS037-T3 2869864 2724861 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV105037187 COSM9762384 98491845 c.93G>A p.W31* Substitution - Nonsense 38 4:4246276-4246276 - - PATHOGENIC .91614 Confirmed somatic variant 26950094 surgery fresh/frozen NS 83 ENSP00000254742.2:p.Trp31Ter ENST00000254742.6:c.93G>A 4:g.4246276C>T ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-BK-A13B-01 2198322 2066600 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV101458334 COSM9042852 138578410 c.1714C>T p.Q572* Substitution - Nonsense 38 3:78668027-78668027 - - PATHOGENIC .99106 Confirmed somatic variant 419 NS NS 58 ENSP00000420637.1:p.Gln572Ter ENST00000495273.5:c.1714C>T 3:g.78668027G>A KLHL36 ENST00000564996.5 1851 17844 S01508 2864352 2719512 lung NS NS NS carcinoma large_cell_neuroendocrine_carcinoma NS NS y COSV105094701 COSM9596552 160746673 c.1346C>A p.S449* Substitution - Nonsense 38 16:84661628-84661628 + - PATHOGENIC .99634 Confirmed somatic variant 29535388 surgery fresh/frozen NS 65 ENSP00000456743.1:p.Ser449Ter ENST00000564996.5:c.1346C>A 16:g.84661628C>A KLHL36 ENST00000564996.5 1851 17844 CHC892T 2340454 2205437 liver NS NS NS carcinoma hepatocellular_carcinoma NS NS y COSV50725444 COSM1741562 160747942 c.1668G>A p.W556* Substitution - Nonsense 38 16:84661950-84661950 + - PATHOGENIC .99506 Confirmed somatic variant 381 NS primary 72 ENSP00000456743.1:p.Trp556Ter ENST00000564996.5:c.1668G>A 16:g.84661950G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-AA-A010-01 1651109 1565896 large_intestine colon transverse NS carcinoma adenocarcinoma NS NS y COSV54903204 COSM285502 111202237 c.409G>T p.E137* Substitution - Nonsense 38 6:152510365-152510365 - - PATHOGENIC .98938 Confirmed somatic variant 22810696 376 NS NS 46 ENSP00000356222.4:p.Glu137Ter ENST00000367253.8:c.409G>T 6:g.152510365C>A PPHLN1_ENST00000449194 ENST00000449194.6 1047 19369 8035316 2121107 1995343 pancreas NS NS NS carcinoma ductal_carcinoma NS NS y COSV56737196 COSM3384344 133518162 c.587C>G p.S196* Substitution - Nonsense 38 12:42387531-42387531 + - PATHOGENIC .93255 Confirmed somatic variant 328 NS NS ENSP00000390681.2:p.Ser196Ter ENST00000449194.6:c.587C>G 12:g.42387531C>G NVL_ENST00000469075 ENST00000469075.5 2298 8070 TCGA-60-2726-01 1782368 1686367 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV55876498 COSM679399 134300267 c.1412C>G p.S471* Substitution - Nonsense 38 1:224287884-224287884 - - PATHOGENIC .78003 Variant of unknown origin 418 fresh/frozen - NOS primary 56 ENSP00000417826.1:p.Ser471Ter ENST00000469075.5:c.1412C>G 1:g.224287884G>C RPGRIP1L ENST00000647211.1 3948 29168 T3545 2658781 2518940 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV50903274 COSM6769134 177853129 c.2239C>T p.R747* Substitution - Nonsense 38 16:53649029-53649029 - - PATHOGENIC .87685 Confirmed somatic variant 27149842 NS NS 78.25 ENSP00000493946.1:p.Arg747Ter ENST00000647211.1:c.2239C>T 16:g.53649029G>A RPGRIP1L ENST00000647211.1 3948 29168 TCGA-B5-A0JR-01 1783384 1687383 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV50905127 COSM971492 177851204 c.1945C>T p.R649* Substitution - Nonsense 38 16:53652742-53652742 - - NEUTRAL .18307 Confirmed somatic variant 419 fresh/frozen - NOS primary 73 ENSP00000493946.1:p.Arg649Ter ENST00000647211.1:c.1945C>T 16:g.53652742G>A MIER2 ENST00000264819.6 1638 29210 TCGA-EE-A181-06 2121622 1995858 skin NS NS NS malignant_melanoma NS NS NS y COSV99316534 COSM7938387 100635891 c.952G>T p.G318* Substitution - Nonsense 38 19:311877-311877 - - PATHOGENIC .96761 Confirmed somatic variant 540 NS NS 82 ENSP00000264819.3:p.Gly318Ter ENST00000264819.6:c.952G>T 19:g.311877C>A GATA3 ENST00000379328.8 1335 4172 14 2443500 2306339 breast NS NS NS carcinoma ER-positive_carcinoma NS NS n COSV60515523 COSM41680 116232157 c.1099C>T p.R367* Substitution - Nonsense 38 10:8073787-8073787 + - PATHOGENIC .75574 Confirmed somatic variant 26563128 surgery-fixed NS ENSP00000368632.3:p.Arg367Ter ENST00000379328.8:c.1099C>T 10:g.8073787C>T RPGRIP1L ENST00000647211.1 3948 29168 TCGA-MX-A663-01 2339492 2204475 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV50903640 COSM971493 177850373 c.1804C>T p.R602* Substitution - Nonsense 38 16:53652883-53652883 - - PATHOGENIC .83157 Confirmed somatic variant 541 NS primary 66 ENSP00000493946.1:p.Arg602Ter ENST00000647211.1:c.1804C>T 16:g.53652883G>A RPGRIP1L ENST00000647211.1 3948 29168 SJALL043850-R 2824118 2679946 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm acute_lymphoblastic_B_cell_leukaemia NS NS y COSV50905127 COSM971492 177851204 c.1945C>T p.R649* Substitution - Nonsense 38 16:53652742-53652742 - - NEUTRAL .18307 Confirmed somatic variant 31697823 blood-bone marrow recurrent 12.84 ENSP00000493946.1:p.Arg649Ter ENST00000647211.1:c.1945C>T 16:g.53652742G>A RPGRIP1L ENST00000647211.1 3948 29168 TCGA-XF-A9T5-01 2339180 2204163 urinary_tract bladder NS NS carcinoma NS NS NS y COSV100045947 COSM7657625 177853944 c.310C>T p.R104* Substitution - Nonsense 38 16:53692285-53692285 - - PATHOGENIC .92941 Confirmed somatic variant 413 NS primary 78 ENSP00000493946.1:p.Arg104Ter ENST00000647211.1:c.310C>T 16:g.53692285G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 5-NB007-T1 2869811 2724808 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV105355924 COSM9560288 138570144 c.1900C>T p.Q634* Substitution - Nonsense 38 3:78662073-78662073 - - PATHOGENIC .98901 Confirmed somatic variant 26950094 surgery fresh/frozen NS 91 ENSP00000420637.1:p.Gln634Ter ENST00000495273.5:c.1900C>T 3:g.78662073G>A OR8H2_ENST00000618136 ENST00000618136.1 936 15308 LUAD-B00915 1765239 1669559 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV57944348 COSM332584 170301817 c.883G>T p.E295* Substitution - Nonsense 38 11:56105928-56105928 + - PATHOGENIC .98518 Variant of unknown origin 22980975 surgery - NOS primary 67 ENSP00000482661.1:p.Glu295Ter ENST00000618136.1:c.883G>T 11:g.56105928G>T NVL_ENST00000469075 ENST00000469075.5 2298 8070 TCGA-AX-A0J0-01 1783376 1687375 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV55873286 COSM904504 134306272 c.145C>T p.R49* Substitution - Nonsense het 38 1:224317917-224317917 - - PATHOGENIC .91356 Variant of unknown origin 419 fresh/frozen - NOS primary 47 ENSP00000417826.1:p.Arg49Ter ENST00000469075.5:c.145C>T 1:g.224317917G>A NVL_ENST00000469075 ENST00000469075.5 2298 8070 LUAD-5V8LT 1765104 1669424 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV55877139 COSM400967 134305623 c.1060C>T p.Q354* Substitution - Nonsense 38 1:224289726-224289726 - - PATHOGENIC .92522 Variant of unknown origin 22980975 surgery - NOS primary 52 ENSP00000417826.1:p.Gln354Ter ENST00000469075.5:c.1060C>T 1:g.224289726G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 BC80-tumour 2668208 2527787 breast NS NS NS carcinoma NS NS NS y COSV54900135 COSM6582423 111179255 c.2950G>T p.E984* Substitution - Nonsense het 38 6:152453663-152453663 - - PATHOGENIC .9217 Confirmed somatic variant 27535334 surgery fresh/frozen metastasis ENSP00000356222.4:p.Glu984Ter ENST00000367253.8:c.2950G>T 6:g.152453663C>A TMEM128_ENST00000254742 ENST00000254742.6 426 28201 TCGA-AN-A046-01 2187824 2056102 breast NS NS NS carcinoma NS NS NS y COSV54636524 COSM3825872 98492178 c.148G>T p.E50* Substitution - Nonsense 38 4:4246221-4246221 - - PATHOGENIC .94563 Confirmed somatic variant 414 NS NS 68 ENSP00000254742.2:p.Glu50Ter ENST00000254742.6:c.148G>T 4:g.4246221C>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 PT38 2521295 2383638 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV71395879 COSM4120360 138563708 c.811C>T p.R271* Substitution - Nonsense 38 3:78714514-78714514 - - PATHOGENIC .94282 Confirmed somatic variant 25759019 surgery fresh/frozen NS ENSP00000420637.1:p.Arg271Ter ENST00000495273.5:c.811C>T 3:g.78714514G>A MIER2 ENST00000264819.6 1638 29210 2293776 2293776 2159827 adrenal_gland adrenal_gland NS NS adrenal_cortical_carcinoma functioning NS NS y COSV53393786 COSM4607702 100632087 c.1635C>A p.C545* Substitution - Nonsense 38 19:306693-306693 - - PATHOGENIC .70999 Confirmed somatic variant 24747642 surgery-fixed NS 48.4 ENSP00000264819.3:p.Cys545Ter ENST00000264819.6:c.1635C>A 19:g.306693G>T OR8H2_ENST00000618136 ENST00000618136.1 936 15308 TCGA-99-8033-01 1914117 1802399 lung right_upper_lobe NS NS carcinoma adenocarcinoma NS NS y COSV57945409 COSM6132985 170301218 c.692C>A p.S231* Substitution - Nonsense 38 11:56105737-56105737 + - NEUTRAL .01664 Variant of unknown origin 417 fresh/frozen - NOS primary 74 ENSP00000482661.1:p.Ser231Ter ENST00000618136.1:c.692C>A 11:g.56105737C>A OR8H2_ENST00000618136 ENST00000618136.1 936 15308 TCGA-64-5778-01 1780194 1684193 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV57944926 COSM6068927 170300076 c.720C>A p.C240* Substitution - Nonsense 38 11:56105765-56105765 + - NEUTRAL .21691 Variant of unknown origin 417 fresh/frozen - NOS primary 60 ENSP00000482661.1:p.Cys240Ter ENST00000618136.1:c.720C>A 11:g.56105765C>A OR8H2_ENST00000618136 ENST00000618136.1 936 15308 LUAD-NYU263 1765192 1669512 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV57945325 COSM372128 170302147 c.336C>G p.Y112* Substitution - Nonsense 38 11:56105381-56105381 + - NEUTRAL .03382 Variant of unknown origin 22980975 surgery - NOS primary 56 ENSP00000482661.1:p.Tyr112Ter ENST00000618136.1:c.336C>G 11:g.56105381C>G OR8H2_ENST00000618136 ENST00000618136.1 936 15308 2834132 2834132 2689916 skin mucosal anorectal NS malignant_melanoma NS NS NS y COSV57944348 COSM332584 170301817 c.883G>T p.E295* Substitution - Nonsense 38 11:56105928-56105928 + - PATHOGENIC .98518 Variant of unknown origin 28296713 surgery - NOS primary 55 ENSP00000482661.1:p.Glu295Ter ENST00000618136.1:c.883G>T 11:g.56105928G>T OR8H2_ENST00000618136 ENST00000618136.1 936 15308 LUAD-5V8LT 1765104 1669424 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV57947973 COSM401193 170301836 c.504C>A p.Y168* Substitution - Nonsense 38 11:56105549-56105549 + - NEUTRAL .03438 Variant of unknown origin 22980975 surgery - NOS primary 52 ENSP00000482661.1:p.Tyr168Ter ENST00000618136.1:c.504C>A 11:g.56105549C>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 S00-35182-TP 2366558 2229441 skin NS NS NS carcinoma squamous_cell_carcinoma NS NS n COSV55054905 COSM4992605 111192325 c.2839C>T p.Q947* Substitution - Nonsense het 38 6:152455479-152455479 - - PATHOGENIC .98726 Confirmed somatic variant 25589618 fixed - NOS metastasis ENSP00000356222.4:p.Gln947Ter ENST00000367253.8:c.2839C>T 6:g.152455479G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 PT55 2521312 2383655 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV55079735 COSM1642920 111190175 c.565C>T p.Q189* Substitution - Nonsense 38 6:152510209-152510209 - - PATHOGENIC .97158 Confirmed somatic variant 25759019 surgery fresh/frozen NS ENSP00000356222.4:p.Gln189Ter ENST00000367253.8:c.565C>T 6:g.152510209G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 C21CA2 2813598 2669987 large_intestine colon sigmoid NS carcinoma adenocarcinoma NS NS n COSV104375135 COSM9225519 111184226 c.1942C>T p.R648* Substitution - Nonsense 38 6:152463508-152463508 - - PATHOGENIC .90206 Confirmed somatic variant 29967250 surgery-fixed primary 34 ENSP00000356222.4:p.Arg648Ter ENST00000367253.8:c.1942C>T 6:g.152463508G>A GATA3 ENST00000379328.8 1335 4172 TCGA-E2-A570-01 2187768 2056046 breast NS NS NS carcinoma NS NS NS y COSV60520848 COSM3807809 116244819 c.986G>A p.W329* Substitution - Nonsense 38 10:8069534-8069534 + - PATHOGENIC .94431 Confirmed somatic variant 414 NS NS 47 ENSP00000368632.3:p.Trp329Ter ENST00000379328.8:c.986G>A 10:g.8069534G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-D3-A2JL-06 2121521 1995757 skin NS NS NS malignant_melanoma NS NS NS y COSV101459117 COSM8153854 138556490 c.2863G>T p.G955* Substitution - Nonsense 38 3:78639783-78639783 - - PATHOGENIC .98264 Confirmed somatic variant 540 NS NS 43 ENSP00000420637.1:p.Gly955Ter ENST00000495273.5:c.2863G>T 3:g.78639783C>A NVL_ENST00000469075 ENST00000469075.5 2298 8070 PD42092a 2894833 2749321 skin head_neck NS NS malignant_melanoma superficial_spreading NS NS y COSV55874920 COSM4462155 134300789 c.961C>T p.R321* Substitution - Nonsense 38 1:224294358-224294358 - - PATHOGENIC .90266 Reported in another cancer sample as somatic 33024263 surgery-fixed metastasis 75 ENSP00000417826.1:p.Arg321Ter ENST00000469075.5:c.961C>T 1:g.224294358G>A NVL_ENST00000469075 ENST00000469075.5 2298 8070 CSCC-40-T 2292477 2158541 skin head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV55874920 COSM4462155 134300789 c.961C>T p.R321* Substitution - Nonsense het 38 1:224294358-224294358 - - PATHOGENIC .90266 Confirmed somatic variant 25303977 surgery fresh/frozen metastasis 49 ENSP00000417826.1:p.Arg321Ter ENST00000469075.5:c.961C>T 1:g.224294358G>A SPATA33_ENST00000611218 ENST00000611218.1 330 26463 TCGA-05-4396-01 1780058 1684057 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV99971370 COSM7653312 166688603 c.314C>A p.S105* Substitution - Nonsense 38 16:89669481-89669481 + - NEUTRAL .00651 Confirmed somatic variant 417 fresh/frozen - NOS primary 76 ENSP00000481797.1:p.Ser105Ter ENST00000611218.1:c.314C>A 16:g.89669481C>A SPATA33_ENST00000611218 ENST00000611218.1 330 26463 T2345 2296112 2161715 large_intestine colon descending NS carcinoma adenocarcinoma NS NS y COSV56378187 COSM4666977 166689141 c.184C>T p.R62* Substitution - Nonsense 38 16:89669351-89669351 + - NEUTRAL .01368 Confirmed somatic variant 25344691 NS NS 54.5 ENSP00000481797.1:p.Arg62Ter ENST00000611218.1:c.184C>T 16:g.89669351C>T OR8H2_ENST00000618136 ENST00000618136.1 936 15308 LUAD-B00416 1765256 1669576 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV57944651 COSM330820 170301199 c.420C>A p.C140* Substitution - Nonsense 38 11:56105465-56105465 + - NEUTRAL .02769 Reported in another cancer sample as somatic 22980975 surgery - NOS primary 59 ENSP00000482661.1:p.Cys140Ter ENST00000618136.1:c.420C>A 11:g.56105465C>A NANOG_ENST00000526286 ENST00000526286.1 870 20857 TCGA-18-3416-01 1780387 1684386 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV57551174 COSM695743 150229538 c.115C>T p.Q39* Substitution - Nonsense 38 12:7789729-7789729 + - NEUTRAL .08258 Variant of unknown origin 418 fresh/frozen - NOS primary 83 ENSP00000435288.1:p.Gln39Ter ENST00000526286.1:c.115C>T 12:g.7789729C>T NANOG_ENST00000526286 ENST00000526286.1 870 20857 587376 1766805 1671125 large_intestine colon NS NS carcinoma adenocarcinoma NS NS y COSV57551017 COSM1216617 150229729 c.97G>T p.E33* Substitution - Nonsense 38 12:7789711-7789711 + - NEUTRAL .19795 Reported in another cancer sample as somatic 22895193 surgery fresh/frozen primary ENSP00000435288.1:p.Glu33Ter ENST00000526286.1:c.97G>T 12:g.7789711G>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 YULAN 2013641 1896273 skin NS NS NS malignant_melanoma NS NS NS y COSV55035915 COSM1698180 111196077 c.3377G>A p.W1126* Substitution - Nonsense het 38 6:152450643-152450643 - - PATHOGENIC .99106 Confirmed somatic variant 22842228 NS NS ENSP00000356222.4:p.Trp1126Ter ENST00000367253.8:c.3377G>A 6:g.152450643C>T SPATA33_ENST00000611218 ENST00000611218.1 330 26463 TCGA-KQ-A41N-01 2457399 2320236 urinary_tract bladder NS NS carcinoma NS NS NS y COSV99971370 COSM7653312 166688603 c.314C>A p.S105* Substitution - Nonsense 38 16:89669481-89669481 + - NEUTRAL .00651 Confirmed somatic variant 413 NS primary 73 ENSP00000481797.1:p.Ser105Ter ENST00000611218.1:c.314C>A 16:g.89669481C>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 HKNPC-003-Tumor-SM-64MF1 2640101 2500402 upper_aerodigestive_tract pharynx nasopharynx NS carcinoma nasopharyngeal_carcinoma NS NS y COSV71393020 COSM420294 138557186 c.2969C>G p.S990* Substitution - Nonsense 38 3:78636042-78636042 - - PATHOGENIC .98875 Confirmed somatic variant 28098136 surgery-fixed primary 74 ENSP00000420637.1:p.Ser990Ter ENST00000495273.5:c.2969C>G 3:g.78636042G>C PPHLN1_ENST00000449194 ENST00000449194.6 1047 19369 CHG-13-09220T 2634310 2494706 liver NS NS NS other neoplasm NS NS y COSV56731606 COSM6258443 133520388 c.871G>T p.E291* Substitution - Nonsense 38 12:42441333-42441333 + - PATHOGENIC .99348 Confirmed somatic variant 660 NS primary 67 ENSP00000390681.2:p.Glu291Ter ENST00000449194.6:c.871G>T 12:g.42441333G>T PPHLN1_ENST00000449194 ENST00000449194.6 1047 19369 S01544 2864358 2719518 lung NS NS NS carcinoma large_cell_neuroendocrine_carcinoma NS NS y COSV105820059 COSM9599106 133518061 c.355G>T p.E119* Substitution - Nonsense 38 12:42374918-42374918 + - Confirmed somatic variant 29535388 surgery fresh/frozen NS 63 ENSP00000390681.2:p.Glu119Ter ENST00000449194.6:c.355G>T 12:g.42374918G>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-32-1982-01 1338091 1248476 central_nervous_system brain NS NS glioma astrocytoma_Grade_IV glioblastoma_multiforme NS y COSV54929870 COSM3021443 111189490 c.529C>T p.Q177* Substitution - Nonsense 38 6:152510245-152510245 - - PATHOGENIC .95014 Confirmed somatic variant 329 surgery fresh/frozen NS 76 ENSP00000356222.4:p.Gln177Ter ENST00000367253.8:c.529C>T 6:g.152510245G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 S00829_1 2480818 2343563 lung NS NS NS carcinoma small_cell_carcinoma NS NS y COSV54941450 COSM5660115 111189552 c.313A>T p.K105* Substitution - Nonsense 38 6:152511100-152511100 - - PATHOGENIC .98356 Confirmed somatic variant 26168399 surgery fresh/frozen primary 63 ENSP00000356222.4:p.Lys105Ter ENST00000367253.8:c.313A>T 6:g.152511100T>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-PN-A8MA-01 2263249 2130233 cervix NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV101458322 COSM8643981 138560129 c.3574C>T p.R1192* Substitution - Nonsense 38 3:78627487-78627487 - - PATHOGENIC .85965 Confirmed somatic variant 415 NS primary 43 ENSP00000420637.1:p.Arg1192Ter ENST00000495273.5:c.3574C>T 3:g.78627487G>A ARSK ENST00000380009.8 1611 25239 587222 1766748 1671068 large_intestine colon NS NS carcinoma adenocarcinoma NS NS y COSV66169309 COSM1183686 114286963 c.157C>T p.Q53* Substitution - Nonsense 38 5:95566028-95566028 + - PATHOGENIC .89967 Variant of unknown origin 22895193 surgery fresh/frozen primary ENSP00000369346.4:p.Gln53Ter ENST00000380009.8:c.157C>T 5:g.95566028C>T ARSK ENST00000380009.8 1611 25239 2834143 2834143 2689927 skin mucosal nasopharynx NS malignant_melanoma NS NS NS y COSV104700033 COSM9325912 114287745 c.427G>T p.E143* Substitution - Nonsense 38 5:95582926-95582926 + - PATHOGENIC .99162 Variant of unknown origin 28296713 surgery - NOS primary 73 ENSP00000369346.4:p.Glu143Ter ENST00000380009.8:c.427G>T 5:g.95582926G>T ARSK ENST00000380009.8 1611 25239 TCGA-BS-A0UF-01 1783473 1687472 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV66169185 COSM1071369 114285461 c.603C>A p.Y201* Substitution - Nonsense het 38 5:95583102-95583102 + - .57427 Variant of unknown origin 419 fresh/frozen - NOS primary 65 ENSP00000369346.4:p.Tyr201Ter ENST00000380009.8:c.603C>A 5:g.95583102C>A MIER2 ENST00000264819.6 1638 29210 TCGA-28-5211-01 2120335 1994571 central_nervous_system brain NS NS glioma astrocytoma_Grade_IV glioblastoma_multiforme NS y COSV99316343 COSM7478499 100633807 c.916G>T p.E306* Substitution - Nonsense 38 19:311913-311913 - - PATHOGENIC .95531 Confirmed somatic variant 329 NS NS 42 ENSP00000264819.3:p.Glu306Ter ENST00000264819.6:c.916G>T 19:g.311913C>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-BF-AAP0-06 2380398 2243230 skin NS NS NS malignant_melanoma NS NS NS y COSV99555575 COSM8155340 111171961 c.2754G>A p.W918* Substitution - Nonsense 38 6:152455564-152455564 - - PATHOGENIC .99162 Confirmed somatic variant 540 NS metastasis 40 ENSP00000356222.4:p.Trp918Ter ENST00000367253.8:c.2754G>A 6:g.152455564C>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-DA-A1HV-06 2121567 1995803 skin NS NS NS malignant_melanoma NS NS NS y COSV99583104 COSM7860829 111197846 c.4390G>T p.E1464* Substitution - Nonsense 38 6:152433866-152433866 - - PATHOGENIC .97797 Confirmed somatic variant 540 NS NS 75 ENSP00000356222.4:p.Glu1464Ter ENST00000367253.8:c.4390G>T 6:g.152433866C>A RAP1GAP2 ENST00000254695.12 2193 29176 Thyroid-CN-WZ045T 2635106 2495502 thyroid NS NS NS carcinoma NS NS NS y COSV54576911 COSM6425200 98443119 c.220C>T p.Q74* Substitution - Nonsense 38 17:2962688-2962688 + - PATHOGENIC .95356 Confirmed somatic variant 676 NS primary 60 ENSP00000254695.8:p.Gln74Ter ENST00000254695.12:c.220C>T 17:g.2962688C>T SLC29A1_ENST00000427851 ENST00000427851.7 1371 11003 LUAD-QY22Z 1765088 1669408 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV57577845 COSM394818 127712725 c.34A>T p.K12* Substitution - Nonsense 38 6:44229394-44229394 + - PATHOGENIC .90375 Variant of unknown origin 22980975 surgery - NOS primary 56 ENSP00000392668.2:p.Lys12Ter ENST00000427851.7:c.34A>T 6:g.44229394A>T ARSK ENST00000380009.8 1611 25239 TCGA-A3-3363-01 1779788 1683787 kidney NS NS NS carcinoma clear_cell_renal_cell_carcinoma NS NS y COSV66169753 COSM1496159 114285436 c.690G>A p.W230* Substitution - Nonsense 38 5:95583189-95583189 + - PATHOGENIC .99153 Variant of unknown origin 416 fresh/frozen - NOS primary 50 ENSP00000369346.4:p.Trp230Ter ENST00000380009.8:c.690G>A 5:g.95583189G>A ARSK ENST00000380009.8 1611 25239 KM12 2301990 2167273 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV66169251 COSM1671761 114284935 c.1312C>T p.Q438* Substitution - Nonsense het 38 5:95601062-95601062 + - PATHOGENIC .98246 Reported in another cancer sample as somatic 24755471 cell-line NS ENSP00000369346.4:p.Gln438Ter ENST00000380009.8:c.1312C>T 5:g.95601062C>T NANOG_ENST00000526286 ENST00000526286.1 870 20857 TCGA-CA-6718-01 1651189 1565976 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS y COSV57551017 COSM1216617 150229729 c.97G>T p.E33* Substitution - Nonsense 38 12:7789711-7789711 + - NEUTRAL .19795 Confirmed somatic variant 22810696 376 NS NS 46 ENSP00000435288.1:p.Glu33Ter ENST00000526286.1:c.97G>T 12:g.7789711G>T ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 OSCC-GB_00630111 2340477 2205460 upper_aerodigestive_tract mouth NS NS carcinoma NS NS NS y COSV71398620 COSM4884968 138611035 c.2314G>T p.G772* Substitution - Nonsense 38 3:78659706-78659706 - - PATHOGENIC .91889 Confirmed somatic variant 539 NS primary 45 ENSP00000420637.1:p.Gly772Ter ENST00000495273.5:c.2314G>T 3:g.78659706C>A NVL_ENST00000469075 ENST00000469075.5 2298 8070 EOSRC-IN-2827 2902115 2756353 large_intestine rectum NS NS carcinoma adenocarcinoma NS NS y COSV105860522 COSM9987425 134307633 c.2246C>A p.S749* Substitution - Nonsense 38 1:224231233-224231233 - - PATHOGENIC .94256 Confirmed somatic variant 33262464 surgery - NOS NS 43 ENSP00000417826.1:p.Ser749Ter ENST00000469075.5:c.2246C>A 1:g.224231233G>T ARSK ENST00000380009.8 1611 25239 TCGA-BS-A0UA-01 1783472 1687471 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV66169451 COSM1071370 114285479 c.964C>T p.R322* Substitution - Nonsense 38 5:95591493-95591493 + - PATHOGENIC .7606 Confirmed somatic variant 419 fresh/frozen - NOS primary 68 ENSP00000369346.4:p.Arg322Ter ENST00000380009.8:c.964C>T 5:g.95591493C>T GATA3 ENST00000379328.8 1335 4172 1 2757106 2615749 lung NS NS NS carcinoma NS NS NS n COSV60523545 COSM7335470 116241161 c.274G>T p.G92* Substitution - Nonsense 38 10:8058337-8058337 + - PATHOGENIC .94176 Confirmed somatic variant 28892047 short-term culture metastasis ENSP00000368632.3:p.Gly92Ter ENST00000379328.8:c.274G>T 10:g.8058337G>T MIER2 ENST00000264819.6 1638 29210 TCGA-CR-7404-01 2193672 2061950 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99316774 COSM8368095 100636510 c.422C>A p.S141* Substitution - Nonsense 38 19:327204-327204 - - PATHOGENIC .99381 Confirmed somatic variant 627 NS NS 53 ENSP00000264819.3:p.Ser141Ter ENST00000264819.6:c.422C>A 19:g.327204G>T CYP11A1_ENST00000358632 ENST00000358632.8 1092 2590 TCGA-D1-A16X-01 1783518 1687517 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV51431031 COSM964818 111100739 c.490G>T p.E164* Substitution - Nonsense het 38 15:74343003-74343003 - - PATHOGENIC .97885 Variant of unknown origin 419 fresh/frozen - NOS primary 54 ENSP00000351455.4:p.Glu164Ter ENST00000358632.8:c.490G>T 15:g.74343003C>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-CA-6717-01 1651188 1565975 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS y COSV54986905 COSM1441615 111180202 c.4402G>T p.E1468* Substitution - Nonsense 38 6:152433854-152433854 - - PATHOGENIC .94572 Confirmed somatic variant 376 NS NS 57 ENSP00000356222.4:p.Glu1468Ter ENST00000367253.8:c.4402G>T 6:g.152433854C>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-EE-A3AC-06 2121694 1995930 skin NS NS NS malignant_melanoma NS NS NS y COSV99582426 COSM7992739 111201907 c.4504G>T p.G1502* Substitution - Nonsense 38 6:152430667-152430667 - - PATHOGENIC .71662 Confirmed somatic variant 540 NS NS 47 ENSP00000356222.4:p.Gly1502Ter ENST00000367253.8:c.4504G>T 6:g.152430667C>A RAP1GAP2 ENST00000254695.12 2193 29176 T1849 2658271 2518430 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV54576624 COSM6762685 98448768 c.1684C>T p.R562* Substitution - Nonsense 38 17:3020528-3020528 + - PATHOGENIC .9564 Confirmed somatic variant 27149842 NS NS 79.25 ENSP00000254695.8:p.Arg562Ter ENST00000254695.12:c.1684C>T 17:g.3020528C>T ARSK ENST00000380009.8 1611 25239 TCGA-D1-A17Q-01 1783533 1687532 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV66169451 COSM1071370 114285479 c.964C>T p.R322* Substitution - Nonsense 38 5:95591493-95591493 + - PATHOGENIC .7606 Confirmed somatic variant 419 fresh/frozen - NOS primary 54 ENSP00000369346.4:p.Arg322Ter ENST00000380009.8:c.964C>T 5:g.95591493C>T OR8H2_ENST00000618136 ENST00000618136.1 936 15308 TCGA-85-8049-01 2195090 2063368 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV100542243 COSM8748535 170299585 c.105C>A p.Y35* Substitution - Nonsense 38 11:56105150-56105150 + - NEUTRAL .18182 Confirmed somatic variant 418 NS NS 57 ENSP00000482661.1:p.Tyr35Ter ENST00000618136.1:c.105C>A 11:g.56105150C>A CYP11A1_ENST00000358632 ENST00000358632.8 1092 2590 GBNEC_14 2907845 2762028 biliary_tract gallbladder NS NS carcinoma small_cell_carcinoma NS NS y COSV99165954 COSM9014295 111097257 c.220C>T p.R74* Substitution - Nonsense 38 15:74343924-74343924 - - NEUTRAL .46512 Reported in another cancer sample as somatic 33563892 surgery-fixed NS 60 ENSP00000351455.4:p.Arg74Ter ENST00000358632.8:c.220C>T 15:g.74343924G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-EE-A2MR-06 2121688 1995924 skin NS NS NS malignant_melanoma NS NS NS y COSV54949749 COSM3622089 111212613 c.250A>T p.K84* Substitution - Nonsense 38 6:152520518-152520518 - - PATHOGENIC .99531 Confirmed somatic variant 540 NS NS 61 ENSP00000356222.4:p.Lys84Ter ENST00000367253.8:c.250A>T 6:g.152520518T>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-KQ-A41Q-01 2457402 2320239 urinary_tract bladder NS NS carcinoma NS NS NS y COSV99561617 COSM7632625 111226948 c.4138G>T p.E1380* Substitution - Nonsense 38 6:152441141-152441141 - - PATHOGENIC .97779 Confirmed somatic variant 413 NS primary 89 ENSP00000356222.4:p.Glu1380Ter ENST00000367253.8:c.4138G>T 6:g.152441141C>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-CV-7432-01 2193870 2062148 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99578779 COSM8325399 111200134 c.1927A>T p.K643* Substitution - Nonsense 38 6:152465263-152465263 - - PATHOGENIC .97286 Confirmed somatic variant 627 NS NS 79 ENSP00000356222.4:p.Lys643Ter ENST00000367253.8:c.1927A>T 6:g.152465263T>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-BR-8682-01 2197983 2066261 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV71395879 COSM4120360 138563708 c.811C>T p.R271* Substitution - Nonsense 38 3:78714514-78714514 - - PATHOGENIC .94282 Confirmed somatic variant 541 NS NS 52 ENSP00000420637.1:p.Arg271Ter ENST00000495273.5:c.811C>T 3:g.78714514G>A NVL_ENST00000469075 ENST00000469075.5 2298 8070 T2281 2658350 2518509 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV55876142 COSM6731829 134304180 c.1009C>T p.R337* Substitution - Nonsense 38 1:224294310-224294310 - - PATHOGENIC .94631 Confirmed somatic variant 27149842 NS NS 80.25 ENSP00000417826.1:p.Arg337Ter ENST00000469075.5:c.1009C>T 1:g.224294310G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-CA-6717-01 1651188 1565975 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS y COSV55091730 COSM1441625 111180225 c.4048G>T p.E1350* Substitution - Nonsense 38 6:152441231-152441231 - - PATHOGENIC .98575 Confirmed somatic variant 376 NS NS 57 ENSP00000356222.4:p.Glu1350Ter ENST00000367253.8:c.4048G>T 6:g.152441231C>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 EXTERN_MELA_20140924_121 2839481 2695247 skin upper_arm NS NS malignant_melanoma NS NS NS y COSV104543058 COSM9443706 111179489 c.2566C>T p.Q856* Substitution - Nonsense 38 6:152458759-152458759 - - PATHOGENIC .94667 Confirmed somatic variant 28467829 surgery fresh/frozen metastasis ENSP00000356222.4:p.Gln856Ter ENST00000367253.8:c.2566C>T 6:g.152458759G>A ARSK ENST00000380009.8 1611 25239 T306558 2658252 2518411 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV66170058 COSM6605333 114285824 c.364C>T p.R122* Substitution - Nonsense 38 5:95567997-95567997 + - NEUTRAL .26132 Confirmed somatic variant 27149842 NS NS 80.41 ENSP00000369346.4:p.Arg122Ter ENST00000380009.8:c.364C>T 5:g.95567997C>T ARSK ENST00000380009.8 1611 25239 KM12 1998451 1883523 large_intestine colon NS NS carcinoma adenocarcinoma NS NS y COSV66169251 COSM1671761 114284935 c.1312C>T p.Q438* Substitution - Nonsense het 38 5:95601062-95601062 + - PATHOGENIC .98246 Confirmed somatic variant 23856246 cell-line primary ENSP00000369346.4:p.Gln438Ter ENST00000380009.8:c.1312C>T 5:g.95601062C>T CYP11A1_ENST00000358632 ENST00000358632.8 1092 2590 PDA_055 2367396 2230234 pancreas NS NS NS carcinoma ductal_carcinoma NS NS y COSV51434365 COSM5000914 111098249 c.466G>T p.E156* Substitution - Nonsense 38 15:74343027-74343027 - - PATHOGENIC .85971 Confirmed somatic variant 25855536 NS NS ENSP00000351455.4:p.Glu156Ter ENST00000358632.8:c.466G>T 15:g.74343027C>A CYP11A1_ENST00000358632 ENST00000358632.8 1092 2590 TCGA-RD-A7BW-01 2197915 2066193 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV51431852 COSM3771891 111100403 c.739C>T p.R247* Substitution - Nonsense 38 15:74339260-74339260 - - PATHOGENIC .97488 Confirmed somatic variant 541 NS NS 71 ENSP00000351455.4:p.Arg247Ter ENST00000358632.8:c.739C>T 15:g.74339260G>A CYP11A1_ENST00000358632 ENST00000358632.8 1092 2590 sysucc-1397T 2456726 2319563 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV51434069 COSM5473649 111098437 c.394C>T p.Q132* Substitution - Nonsense 38 15:74343099-74343099 - - NEUTRAL .34098 Confirmed somatic variant 646 NS primary 62 ENSP00000351455.4:p.Gln132Ter ENST00000358632.8:c.394C>T 15:g.74343099G>A GATA3 ENST00000379328.8 1335 4172 P-0007362-T01-IM5 2830065 2685880 breast NS NS NS carcinoma ductal_carcinoma NS NS n COSV60515523 COSM41680 116232157 c.1099C>T p.R367* Substitution - Nonsense 38 10:8073787-8073787 + - PATHOGENIC .75574 Confirmed somatic variant 30205045 surgery-fixed primary 68 ENSP00000368632.3:p.Arg367Ter ENST00000379328.8:c.1099C>T 10:g.8073787C>T GATA3 ENST00000379328.8 1335 4172 P-0002574-T01-IM3 2718834 2577655 breast NS NS NS carcinoma ductal_carcinoma NS NS n COSV60517689 COSM6923172 116231853 c.1172C>A p.S391* Substitution - Nonsense het 38 10:8073860-8073860 + - PATHOGENIC .85297 Confirmed somatic variant 28481359 surgery-fixed metastasis ENSP00000368632.3:p.Ser391Ter ENST00000379328.8:c.1172C>A 10:g.8073860C>A OR8H2_ENST00000618136 ENST00000618136.1 936 15308 TCGA-FU-A23L-01 1779777 1683776 cervix NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV57947982 COSM458551 170302280 c.46G>T p.G16* Substitution - Nonsense 38 11:56105091-56105091 + - PATHOGENIC .95955 Confirmed somatic variant 415 fresh/frozen - NOS primary 60 ENSP00000482661.1:p.Gly16Ter ENST00000618136.1:c.46G>T 11:g.56105091G>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 S03-45671-TP 2366564 2229447 skin NS NS NS carcinoma squamous_cell_carcinoma NS NS n COSV55030550 COSM4992613 111190713 c.2344G>T p.G782* Substitution - Nonsense het 38 6:152461647-152461647 - - PATHOGENIC .88515 Confirmed somatic variant 25589618 fixed - NOS metastasis ENSP00000356222.4:p.Gly782Ter ENST00000367253.8:c.2344G>T 6:g.152461647C>A GATA3 ENST00000379328.8 1335 4172 P-0003950-T01-IM5 2720409 2579230 breast NS NS NS carcinoma ductal_carcinoma NS NS n COSV60515523 COSM41680 116232157 c.1099C>T p.R367* Substitution - Nonsense het 38 10:8073787-8073787 + - PATHOGENIC .75574 Confirmed somatic variant 28481359 surgery-fixed metastasis ENSP00000368632.3:p.Arg367Ter ENST00000379328.8:c.1099C>T 10:g.8073787C>T MIER2 ENST00000264819.6 1638 29210 TCGA-D3-A3CE-06 2121533 1995769 skin NS NS NS malignant_melanoma NS NS NS y COSV99316574 COSM7929892 100634810 c.817G>T p.E273* Substitution - Nonsense 38 19:312263-312263 - - PATHOGENIC .91946 Confirmed somatic variant 540 NS NS 74 ENSP00000264819.3:p.Glu273Ter ENST00000264819.6:c.817G>T 19:g.312263C>A MIER2 ENST00000264819.6 1638 29210 110 2748082 2606785 stomach NS NS NS carcinoma NS NS NS y COSV99315888 COSM8516522 100637120 c.1365C>A p.Y455* Substitution - Nonsense 38 19:307370-307370 - - NEUTRAL .16466 Confirmed somatic variant 683 NS primary ENSP00000264819.3:p.Tyr455Ter ENST00000264819.6:c.1365C>A 19:g.307370G>T MIER2 ENST00000264819.6 1638 29210 ESCC_99 2479595 2342355 oesophagus NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV53395834 COSM5637753 100636365 c.511G>T p.E171* Substitution - Nonsense 38 19:326581-326581 - - NEUTRAL .22117 Confirmed somatic variant 26873401 NS NS 43 ENSP00000264819.3:p.Glu171Ter ENST00000264819.6:c.511G>T 19:g.326581C>A OR8H2_ENST00000618136 ENST00000618136.1 936 15308 TCGA-EE-A3J5-06 2121700 1995936 skin NS NS NS malignant_melanoma NS NS NS y COSV57946153 COSM3449193 170300925 c.70C>T p.Q24* Substitution - Nonsense 38 11:56105115-56105115 + - NEUTRAL .13493 Confirmed somatic variant 540 NS NS 71 ENSP00000482661.1:p.Gln24Ter ENST00000618136.1:c.70C>T 11:g.56105115C>T OR8H2_ENST00000618136 ENST00000618136.1 936 15308 TCGA-55-8616-01 2194747 2063025 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV57946331 COSM3700091 170300057 c.736G>T p.G246* Substitution - Nonsense 38 11:56105781-56105781 + - NEUTRAL .11491 Confirmed somatic variant 417 NS NS 58 ENSP00000482661.1:p.Gly246Ter ENST00000618136.1:c.736G>T 11:g.56105781G>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 0227_CRUK_PC_0227_T1_DNA 2635051 2495447 prostate NS NS NS carcinoma adenocarcinoma NS NS y COSV55053978 COSM6218172 111174301 c.217C>T p.Q73* Substitution - Nonsense 38 6:152526088-152526088 - - PATHOGENIC .96845 Confirmed somatic variant 538 NS primary 62 ENSP00000356222.4:p.Gln73Ter ENST00000367253.8:c.217C>T 6:g.152526088G>A SLC29A1_ENST00000427851 ENST00000427851.7 1371 11003 YUWALI 2013706 1896338 skin NS NS NS malignant_melanoma NS NS NS y COSV57578073 COSM1697289 127713516 c.793G>T p.E265* Substitution - Nonsense het 38 6:44231390-44231390 + - PATHOGENIC .92194 Confirmed somatic variant 22842228 NS NS ENSP00000392668.2:p.Glu265Ter ENST00000427851.7:c.793G>T 6:g.44231390G>T ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 5-VS038-T1 2869868 2724865 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV105355895 COSM9772026 138575545 c.1540C>T p.Q514* Substitution - Nonsense 38 3:78668285-78668285 - - PATHOGENIC .92706 Confirmed somatic variant 26950094 surgery fresh/frozen NS 70 ENSP00000420637.1:p.Gln514Ter ENST00000495273.5:c.1540C>T 3:g.78668285G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 5-VS038-T1 2869868 2724865 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV105355894 COSM9771817 138575526 c.2650C>T p.R884* Substitution - Nonsense 38 3:78651786-78651786 - - PATHOGENIC .93339 Confirmed somatic variant 26950094 surgery fresh/frozen NS 70 ENSP00000420637.1:p.Arg884Ter ENST00000495273.5:c.2650C>T 3:g.78651786G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-EY-A1G8-01 2198478 2066756 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV71392075 COSM1048554 138559994 c.4735C>T p.R1579* Substitution - Nonsense 38 3:78600184-78600184 - - PATHOGENIC .96046 Confirmed somatic variant 419 NS NS 83 ENSP00000420637.1:p.Arg1579Ter ENST00000495273.5:c.4735C>T 3:g.78600184G>A CYP11A1_ENST00000358632 ENST00000358632.8 1092 2590 TCGA-EE-A3AG-06 2121698 1995934 skin NS NS NS malignant_melanoma NS NS NS y COSV99166005 COSM7923288 111097251 c.10G>T p.E4* Substitution - Nonsense 38 15:74345185-74345185 - - NEUTRAL .44847 Confirmed somatic variant 540 NS NS 25 ENSP00000351455.4:p.Glu4Ter ENST00000358632.8:c.10G>T 15:g.74345185C>A OR8H2_ENST00000618136 ENST00000618136.1 936 15308 2521243 2521243 2383589 skin face NS NS carcinoma basal_cell_carcinoma NS NS y COSV57946153 COSM3449193 170300925 c.70C>T p.Q24* Substitution - Nonsense 38 11:56105115-56105115 + - NEUTRAL .13493 Confirmed somatic variant 25759019 surgery fresh/frozen recurrent ENSP00000482661.1:p.Gln24Ter ENST00000618136.1:c.70C>T 11:g.56105115C>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 PCSI_0082_Pa_P_526 2197237 2065515 pancreas NS NS NS carcinoma ductal_carcinoma NS NS y COSV54953130 COSM3381366 111176685 c.1096G>T p.E366* Substitution - Nonsense 38 6:152484924-152484924 - - PATHOGENIC .94199 Confirmed somatic variant 382 NS NS ENSP00000356222.4:p.Glu366Ter ENST00000367253.8:c.1096G>T 6:g.152484924C>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 T2775 2658643 2518802 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV54915173 COSM1672926 111170736 c.661C>T p.R221* Substitution - Nonsense 38 6:152505318-152505318 - - PATHOGENIC .95524 Confirmed somatic variant 27149842 NS NS 74.91 ENSP00000356222.4:p.Arg221Ter ENST00000367253.8:c.661C>T 6:g.152505318G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-CM-6674-01 1651235 1566022 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS y COSV71392523 COSM1425522 138595765 c.544C>T p.R182* Substitution - Nonsense 38 3:78717880-78717880 - - PATHOGENIC .96008 Confirmed somatic variant 22810696 376 NS NS 39 ENSP00000420637.1:p.Arg182Ter ENST00000495273.5:c.544C>T 3:g.78717880G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-CM-6674-01 1651235 1566022 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS y COSV71392523 COSM1425522 138595765 c.544C>T p.R182* Substitution - Nonsense 38 3:78717880-78717880 - - PATHOGENIC .96008 Confirmed somatic variant 376 NS NS 39 ENSP00000420637.1:p.Arg182Ter ENST00000495273.5:c.544C>T 3:g.78717880G>A GATA3 ENST00000379328.8 1335 4172 ATL177 2488800 2351449 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm adult_T_cell_lymphoma-leukaemia NS NS n COSV60515587 COSM5703720 116232250 c.189C>G p.Y63* Substitution - Nonsense 38 10:8055844-8055844 + - PATHOGENIC .94214 Confirmed somatic variant 26437031 NS NS ENSP00000368632.3:p.Tyr63Ter ENST00000379328.8:c.189C>G 10:g.8055844C>G OR8H2_ENST00000618136 ENST00000618136.1 936 15308 RK040_C01 2120948 1995184 liver NS NS NS carcinoma NS NS NS y COSV57946331 COSM3700091 170300057 c.736G>T p.G246* Substitution - Nonsense 38 11:56105781-56105781 + - NEUTRAL .11491 Confirmed somatic variant 322 NS NS ENSP00000482661.1:p.Gly246Ter ENST00000618136.1:c.736G>T 11:g.56105781G>T SLC29A1_ENST00000427851 ENST00000427851.7 1371 11003 10-013F1 2575174 2436511 prostate NS NS NS carcinoma adenocarcinoma NS NS y COSV57577271 COSM5996559 127712151 c.44G>A p.W15* Substitution - Nonsense 38 6:44229404-44229404 + - PATHOGENIC .99434 Confirmed somatic variant 26928463 autopsy - NOS metastasis 62 ENSP00000392668.2:p.Trp15Ter ENST00000427851.7:c.44G>A 6:g.44229404G>A GATA3 ENST00000379328.8 1335 4172 P-0003950-T02-IM5 2829672 2685487 breast NS NS NS carcinoma ductal_carcinoma NS NS n COSV60515523 COSM41680 116232157 c.1099C>T p.R367* Substitution - Nonsense 38 10:8073787-8073787 + - PATHOGENIC .75574 Confirmed somatic variant 30205045 surgery-fixed metastasis 51 ENSP00000368632.3:p.Arg367Ter ENST00000379328.8:c.1099C>T 10:g.8073787C>T CYP11A1_ENST00000358632 ENST00000358632.8 1092 2590 TCGA-CV-7568-01 2193491 2061769 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99166281 COSM8326783 111098459 c.335G>A p.W112* Substitution - Nonsense 38 15:74343809-74343809 - - PATHOGENIC .97683 Confirmed somatic variant 627 NS NS 48 ENSP00000351455.4:p.Trp112Ter ENST00000358632.8:c.335G>A 15:g.74343809C>T CYP11A1_ENST00000358632 ENST00000358632.8 1092 2590 8061103 2196551 2064829 pancreas NS NS NS carcinoma ductal_carcinoma NS NS y COSV51431852 COSM3771891 111100403 c.739C>T p.R247* Substitution - Nonsense 38 15:74339260-74339260 - - PATHOGENIC .97488 Confirmed somatic variant 328 NS NS ENSP00000351455.4:p.Arg247Ter ENST00000358632.8:c.739C>T 15:g.74339260G>A CYP11A1_ENST00000358632 ENST00000358632.8 1092 2590 TCGA-E6-A1M0-01 2198308 2066586 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV99165954 COSM9014295 111097257 c.220C>T p.R74* Substitution - Nonsense 38 15:74343924-74343924 - - NEUTRAL .46512 Confirmed somatic variant 419 NS NS 56 ENSP00000351455.4:p.Arg74Ter ENST00000358632.8:c.220C>T 15:g.74343924G>A SLC29A1_ENST00000427851 ENST00000427851.7 1371 11003 10-013G1 2575198 2436535 prostate NS NS NS carcinoma adenocarcinoma NS NS y COSV57577271 COSM5996559 127712151 c.44G>A p.W15* Substitution - Nonsense 38 6:44229404-44229404 + - PATHOGENIC .99434 Confirmed somatic variant 26928463 autopsy - NOS metastasis 62 ENSP00000392668.2:p.Trp15Ter ENST00000427851.7:c.44G>A 6:g.44229404G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 WD_09 2688643 2547625 skin hand NS NS carcinoma squamous_cell_carcinoma NS NS y COSV71394851 COSM1048689 138567890 c.466C>T p.R156* Substitution - Nonsense het 38 3:78746817-78746817 - - PATHOGENIC .90585 Confirmed somatic variant 24662767 surgery fresh/frozen NS 58 ENSP00000420637.1:p.Arg156Ter ENST00000495273.5:c.466C>T 3:g.78746817G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 CSCC-27-T 2292469 2158533 skin head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV71394427 COSM4455183 138575029 c.577A>T p.K193* Substitution - Nonsense het 38 3:78717847-78717847 - - PATHOGENIC .98885 Confirmed somatic variant 25303977 surgery fresh/frozen primary 72 ENSP00000420637.1:p.Lys193Ter ENST00000495273.5:c.577A>T 3:g.78717847T>A GATA3 ENST00000379328.8 1335 4172 ATL338 2488935 2351584 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm adult_T_cell_lymphoma-leukaemia NS NS n COSV60521694 COSM5703718 116241653 c.166C>T p.Q56* Substitution - Nonsense 38 10:8055821-8055821 + - PATHOGENIC .98125 Confirmed somatic variant 26437031 NS NS ENSP00000368632.3:p.Gln56Ter ENST00000379328.8:c.166C>T 10:g.8055821C>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 ILMN13 2816773 2673124 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS y COSV104374027 COSM9251640 111187168 c.4273G>T p.E1425* Substitution - Nonsense 38 6:152435978-152435978 - - PATHOGENIC .97976 Confirmed somatic variant 29937994 surgery fresh/frozen NS 54 ENSP00000356222.4:p.Glu1425Ter ENST00000367253.8:c.4273G>T 6:g.152435978C>A PBX1_ENST00000560641 ENST00000560641.5 978 8632 OV204PT 1716839 1624324 ovary NS NS NS carcinoma serous_carcinoma NS NS y COSV63347631 COSM253275 159985557 c.736C>T p.Q246* Substitution - Nonsense 38 1:164820125-164820125 + - PATHOGENIC .97708 Confirmed somatic variant 22102435 surgery fresh/frozen NS ENSP00000452727.1:p.Gln246Ter ENST00000560641.5:c.736C>T 1:g.164820125C>T RAP1GAP2 ENST00000254695.12 2193 29176 TCGA-CM-6171-01 1651233 1566020 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS y COSV54590195 COSM1382335 98447502 c.1801C>T p.Q601* Substitution - Nonsense 38 17:3026057-3026057 + - PATHOGENIC .98979 Confirmed somatic variant 22810696 376 NS NS 77 ENSP00000254695.8:p.Gln601Ter ENST00000254695.12:c.1801C>T 17:g.3026057C>T RAP1GAP2 ENST00000254695.12 2193 29176 TCGA-CM-6171-01 1651233 1566020 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS y COSV54590195 COSM1382335 98447502 c.1801C>T p.Q601* Substitution - Nonsense 38 17:3026057-3026057 + - PATHOGENIC .98979 Confirmed somatic variant 376 NS NS 77 ENSP00000254695.8:p.Gln601Ter ENST00000254695.12:c.1801C>T 17:g.3026057C>T SLC29A1_ENST00000427851 ENST00000427851.7 1371 11003 10-013J2 2575175 2436512 prostate NS NS NS carcinoma adenocarcinoma NS NS y COSV57577271 COSM5996559 127712151 c.44G>A p.W15* Substitution - Nonsense 38 6:44229404-44229404 + - PATHOGENIC .99434 Confirmed somatic variant 26928463 autopsy - NOS metastasis 62 ENSP00000392668.2:p.Trp15Ter ENST00000427851.7:c.44G>A 6:g.44229404G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-EY-A1GI-01 2198283 2066561 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV71397059 COSM6035983 138561571 c.4783G>T p.E1595* Substitution - Nonsense 38 3:78600136-78600136 - - PATHOGENIC .98744 Confirmed somatic variant 419 NS NS 52 ENSP00000420637.1:p.Glu1595Ter ENST00000495273.5:c.4783G>T 3:g.78600136C>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-AG-A00Y-01 1651652 1566439 large_intestine rectum NS NS carcinoma adenocarcinoma NS NS y COSV71397558 COSM5072483 138589426 c.70C>T p.Q24* Substitution - Nonsense 38 3:78938913-78938913 - - PATHOGENIC .97752 Confirmed somatic variant 22810696 375 NS primary 68 ENSP00000420637.1:p.Gln24Ter ENST00000495273.5:c.70C>T 3:g.78938913G>A NANOG_ENST00000526286 ENST00000526286.1 870 20857 TCGA-90-7964-01 2195169 2063447 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99981703 COSM8795564 150229806 c.268A>T p.K90* Substitution - Nonsense 38 12:7793066-7793066 + - NEUTRAL .02097 Confirmed somatic variant 418 NS NS 70 ENSP00000435288.1:p.Lys90Ter ENST00000526286.1:c.268A>T 12:g.7793066A>T NANOG_ENST00000526286 ENST00000526286.1 870 20857 5-VS037-T6 2869866 2724863 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV105064187 COSM9767092 150229665 c.539G>A p.W180* Substitution - Nonsense 38 12:7794764-7794764 + - PATHOGENIC .926 Confirmed somatic variant 26950094 surgery fresh/frozen NS 83 ENSP00000435288.1:p.Trp180Ter ENST00000526286.1:c.539G>A 12:g.7794764G>A CYP11A1_ENST00000358632 ENST00000358632.8 1092 2590 CC-UT-172M1 2856961 2712261 kidney NS NS NS carcinoma clear_cell_renal_cell_carcinoma NS NS y COSV105089515 COSM9520923 111101496 c.796C>T p.R266* Substitution - Nonsense 38 15:74338735-74338735 - - PATHOGENIC .85522 Confirmed somatic variant 32271170 surgery-fixed metastasis ENSP00000351455.4:p.Arg266Ter ENST00000358632.8:c.796C>T 15:g.74338735G>A RAP1GAP2 ENST00000254695.12 2193 29176 TCGA-EE-A29G-06 2121637 1995873 skin NS NS NS malignant_melanoma NS NS NS y COSV99624062 COSM7940686 98444851 c.1691C>A p.S564* Substitution - Nonsense 38 17:3020535-3020535 + - PATHOGENIC .98887 Confirmed somatic variant 540 NS NS 53 ENSP00000254695.8:p.Ser564Ter ENST00000254695.12:c.1691C>A 17:g.3020535C>A SLC29A1_ENST00000427851 ENST00000427851.7 1371 11003 TCGA-CK-6746-01 1651201 1565988 large_intestine caecum NS NS carcinoma adenocarcinoma NS NS y COSV100505514 COSM7622600 127712690 c.1291G>T p.G431* Substitution - Nonsense 38 6:44233448-44233448 + - PATHOGENIC .99662 Confirmed somatic variant 376 NS NS 84 ENSP00000392668.2:p.Gly431Ter ENST00000427851.7:c.1291G>T 6:g.44233448G>T ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 T167191 2658410 2518569 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV71398550 COSM6768161 138571355 c.2941A>T p.K981* Substitution - Nonsense 38 3:78636070-78636070 - - PATHOGENIC .9969 Confirmed somatic variant 27149842 NS NS 77.41 ENSP00000420637.1:p.Lys981Ter ENST00000495273.5:c.2941A>T 3:g.78636070T>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 ESCC-210T 2185931 2054228 oesophagus NS NS NS carcinoma NS NS NS y COSV71394851 COSM1048689 138567890 c.466C>T p.R156* Substitution - Nonsense 38 3:78746817-78746817 - - PATHOGENIC .90585 Confirmed somatic variant 582 NS NS ENSP00000420637.1:p.Arg156Ter ENST00000495273.5:c.466C>T 3:g.78746817G>A NVL_ENST00000469075 ENST00000469075.5 2298 8070 587368 1766801 1671121 large_intestine colon NS NS carcinoma adenocarcinoma NS NS y COSV55872177 COSM1218126 134300441 c.2119C>T p.R707* Substitution - Nonsense 38 1:224233264-224233264 - - PATHOGENIC .85964 Confirmed somatic variant 22895193 surgery fresh/frozen primary ENSP00000417826.1:p.Arg707Ter ENST00000469075.5:c.2119C>T 1:g.224233264G>A PDE1B ENST00000243052.7 1611 8775 H1385 2776319 2634455 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99059951 COSM7383301 98983769 c.877G>T p.E293* Substitution - Nonsense 38 12:54573395-54573395 + - PATHOGENIC .95183 Variant of unknown origin 29681454 NS NS 49 ENSP00000243052.3:p.Glu293Ter ENST00000243052.7:c.877G>T 12:g.54573395G>T OR8H2_ENST00000618136 ENST00000618136.1 936 15308 A7 2409505 2272385 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV57943751 COSM3449210 170299705 c.811C>T p.Q271* Substitution - Nonsense 38 11:56105856-56105856 + - NEUTRAL .00968 Confirmed somatic variant 25112956 surgery fresh/frozen NS 68 ENSP00000482661.1:p.Gln271Ter ENST00000618136.1:c.811C>T 11:g.56105856C>T OR8H2_ENST00000618136 ENST00000618136.1 936 15308 2014_Lung_sq_56_T 2744927 2603630 lung NS NS NS carcinoma NS NS NS y COSV57946331 COSM3700091 170300057 c.736G>T p.G246* Substitution - Nonsense 38 11:56105781-56105781 + - NEUTRAL .11491 Confirmed somatic variant 583 NS primary 67 ENSP00000482661.1:p.Gly246Ter ENST00000618136.1:c.736G>T 11:g.56105781G>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-AX-A2IN-01 2198359 2066637 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV99567726 COSM8873002 111178681 c.1918G>T p.E640* Substitution - Nonsense 38 6:152465272-152465272 - - PATHOGENIC .98751 Confirmed somatic variant 419 NS NS 63 ENSP00000356222.4:p.Glu640Ter ENST00000367253.8:c.1918G>T 6:g.152465272C>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 P45 2368404 2231208 large_intestine NS NS NS carcinoma adenocarcinoma NS NS n COSV55060564 COSM5008022 111170117 c.2326G>T p.E776* Substitution - Nonsense 38 6:152461665-152461665 - - PATHOGENIC .9483 Confirmed somatic variant 24951259 fresh/frozen - NOS primary 78 ENSP00000356222.4:p.Glu776Ter ENST00000367253.8:c.2326G>T 6:g.152461665C>A ARSK ENST00000380009.8 1611 25239 EXTERN_MELA_20140924_131 2839485 2695251 skin scalp NS NS malignant_melanoma NS NS NS y COSV104700030 COSM9441512 114285544 c.689G>A p.W230* Substitution - Nonsense 38 5:95583188-95583188 + - PATHOGENIC .99153 Confirmed somatic variant 28467829 surgery fresh/frozen primary ENSP00000369346.4:p.Trp230Ter ENST00000380009.8:c.689G>A 5:g.95583188G>A ARSK ENST00000380009.8 1611 25239 TCGA-O2-A52Q-01 2385921 2248753 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV100706660 COSM8792197 114287218 c.67G>T p.E23* Substitution - Nonsense 38 5:95555345-95555345 + - NEUTRAL .1583 Confirmed somatic variant 418 NS primary 44 ENSP00000369346.4:p.Glu23Ter ENST00000380009.8:c.67G>T 5:g.95555345G>T PDE1B ENST00000243052.7 1611 8775 TCGA-97-7937-01 1914110 1802392 lung right_upper_lobe NS NS carcinoma adenocarcinoma NS NS y COSV54494624 COSM6137242 98985072 c.349G>T p.E117* Substitution - Nonsense 38 12:54569305-54569305 + - PATHOGENIC .99668 Variant of unknown origin 417 fresh/frozen - NOS primary 65 ENSP00000243052.3:p.Glu117Ter ENST00000243052.7:c.349G>T 12:g.54569305G>T CYP11A1_ENST00000358632 ENST00000358632.8 1092 2590 IGC-10-1182 2662348 2522472 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV51431946 COSM6522245 111100779 c.931G>T p.E311* Substitution - Nonsense 38 15:74338600-74338600 - - PATHOGENIC .99378 Confirmed somatic variant 27923066 surgery fresh/frozen primary ENSP00000351455.4:p.Glu311Ter ENST00000358632.8:c.931G>T 15:g.74338600C>A OR8H2_ENST00000618136 ENST00000618136.1 936 15308 S00711 2864330 2719491 lung NS NS NS carcinoma large_cell_neuroendocrine_carcinoma NS NS y COSV105183995 COSM9588236 170299442 c.694G>T p.G232* Substitution - Nonsense 38 11:56105739-56105739 + - .52936 Confirmed somatic variant 29535388 surgery fresh/frozen NS 58 ENSP00000482661.1:p.Gly232Ter ENST00000618136.1:c.694G>T 11:g.56105739G>T OR8H2_ENST00000618136 ENST00000618136.1 936 15308 TCGA-NJ-A55O-01 2385688 2248520 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV100542469 COSM8666163 170301308 c.802G>T p.G268* Substitution - Nonsense 38 11:56105847-56105847 + - NEUTRAL .08853 Confirmed somatic variant 417 NS primary 56 ENSP00000482661.1:p.Gly268Ter ENST00000618136.1:c.802G>T 11:g.56105847G>T PBX1_ENST00000560641 ENST00000560641.5 978 8632 PCSI_0083_Pa_P_526 2197226 2065504 pancreas NS NS NS carcinoma ductal_carcinoma NS NS y COSV63347923 COSM3849309 159994135 c.574A>T p.K192* Substitution - Nonsense 38 1:164812041-164812041 + - PATHOGENIC .98932 Confirmed somatic variant 382 NS NS ENSP00000452727.1:p.Lys192Ter ENST00000560641.5:c.574A>T 1:g.164812041A>T SLC29A1_ENST00000427851 ENST00000427851.7 1371 11003 TCGA-15-1446-01 2178115 2046413 central_nervous_system brain NS NS glioma astrocytoma_Grade_IV glioblastoma_multiforme NS y COSV100505558 COSM7464800 127712959 c.981C>A p.Y327* Substitution - Nonsense 38 6:44232350-44232350 + - PATHOGENIC .97016 Confirmed somatic variant 329 NS NS 55 ENSP00000392668.2:p.Tyr327Ter ENST00000427851.7:c.981C>A 6:g.44232350C>A ARSK ENST00000380009.8 1611 25239 GBM18-I2 2813454 2669846 central_nervous_system brain NS NS glioma astrocytoma_Grade_IV glioblastoma_multiforme NS y COSV101187537 COSM9187234 114287552 c.1536G>A p.W512* Substitution - Nonsense 38 5:95603451-95603451 + - PATHOGENIC .99147 Confirmed somatic variant 28263318 surgery fresh/frozen NS 40 ENSP00000369346.4:p.Trp512Ter ENST00000380009.8:c.1536G>A 5:g.95603451G>A GATA3 ENST00000379328.8 1335 4172 ATL311 2488908 2351557 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm adult_T_cell_lymphoma-leukaemia NS NS n COSV60515185 COSM5703714 116243195 c.30G>A p.W10* Substitution - Nonsense 38 10:8055685-8055685 + - PATHOGENIC .98949 Confirmed somatic variant 26437031 NS NS ENSP00000368632.3:p.Trp10Ter ENST00000379328.8:c.30G>A 10:g.8055685G>A OR8H2_ENST00000618136 ENST00000618136.1 936 15308 S02284_1 2480888 2343633 lung NS NS NS carcinoma small_cell_carcinoma NS NS y COSV57944651 COSM330820 170301199 c.420C>A p.C140* Substitution - Nonsense 38 11:56105465-56105465 + - NEUTRAL .02769 Confirmed somatic variant 26168399 surgery fresh/frozen primary 66 ENSP00000482661.1:p.Cys140Ter ENST00000618136.1:c.420C>A 11:g.56105465C>A APOL1 ENST00000319136.8 1245 618 PD36792a 2894864 2749352 skin head_neck NS NS malignant_melanoma NS NS NS y COSV105181790 COSM9877557 106971828 c.742A>T p.K248* Substitution - Nonsense 38 22:36265530-36265530 + - NEUTRAL .03042 Variant of unknown origin 33024263 surgery-fixed metastasis 72 ENSP00000317674.4:p.Lys248Ter ENST00000319136.8:c.742A>T 22:g.36265530A>T NVL_ENST00000469075 ENST00000469075.5 2298 8070 CRC-06T 2456773 2319610 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV55874920 COSM4462155 134300789 c.961C>T p.R321* Substitution - Nonsense 38 1:224294358-224294358 - - PATHOGENIC .90266 Confirmed somatic variant 646 NS primary 64 ENSP00000417826.1:p.Arg321Ter ENST00000469075.5:c.961C>T 1:g.224294358G>A CYP11A1_ENST00000358632 ENST00000358632.8 1092 2590 TCGA-KQ-A41N-01 2457399 2320236 urinary_tract bladder NS NS carcinoma NS NS NS y COSV99165922 COSM7656215 111100063 c.110C>A p.S37* Substitution - Nonsense 38 15:74345085-74345085 - - PATHOGENIC .97149 Confirmed somatic variant 413 NS primary 73 ENSP00000351455.4:p.Ser37Ter ENST00000358632.8:c.110C>A 15:g.74345085G>T OR8H2_ENST00000618136 ENST00000618136.1 936 15308 TCGA-FS-A4FD-06 2121781 1996017 skin NS NS NS malignant_melanoma NS NS NS y COSV57943751 COSM3449210 170299705 c.811C>T p.Q271* Substitution - Nonsense 38 11:56105856-56105856 + - NEUTRAL .00968 Confirmed somatic variant 540 NS NS 39 ENSP00000482661.1:p.Gln271Ter ENST00000618136.1:c.811C>T 11:g.56105856C>T ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 PD42114a 2894823 2749311 skin head_neck NS NS malignant_melanoma superficial_spreading NS NS y COSV105355936 COSM9914401 138615876 c.494G>A p.W165* Substitution - Nonsense 38 3:78746789-78746789 - - PATHOGENIC .98405 Confirmed somatic variant 33024263 surgery-fixed metastasis 54 ENSP00000420637.1:p.Trp165Ter ENST00000495273.5:c.494G>A 3:g.78746789C>T ARSK ENST00000380009.8 1611 25239 TCGA-D1-A17B-01 1783524 1687523 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV66169451 COSM1071370 114285479 c.964C>T p.R322* Substitution - Nonsense 38 5:95591493-95591493 + - PATHOGENIC .7606 Confirmed somatic variant 419 fresh/frozen - NOS primary 69 ENSP00000369346.4:p.Arg322Ter ENST00000380009.8:c.964C>T 5:g.95591493C>T ARSK ENST00000380009.8 1611 25239 TCGA-AO-A03M-01 2187822 2056100 breast NS NS NS carcinoma NS NS NS y COSV66169973 COSM3828623 114286969 c.520G>T p.E174* Substitution - Nonsense 38 5:95583019-95583019 + - NEUTRAL .27343 Confirmed somatic variant 414 NS NS 29 ENSP00000369346.4:p.Glu174Ter ENST00000380009.8:c.520G>T 5:g.95583019G>T SIDT1 ENST00000393830.4 2499 25967 TCGA-A1-A0SI-01 1899594 1788278 breast NS NS NS carcinoma NS NS NS y COSV53501062 COSM1484459 120354967 c.1399C>T p.Q467* Substitution - Nonsense 38 3:113604971-113604971 + - PATHOGENIC .98859 Confirmed somatic variant 414 fresh/frozen - NOS primary 52 ENSP00000377416.4:p.Gln467Ter ENST00000393830.4:c.1399C>T 3:g.113604971C>T CYP11A1_ENST00000358632 ENST00000358632.8 1092 2590 TCGA-D3-A1QA-06 2121507 1995743 skin NS NS NS malignant_melanoma NS NS NS y COSV51433712 COSM3503920 111099393 c.217C>T p.Q73* Substitution - Nonsense 38 15:74343927-74343927 - - PATHOGENIC .95543 Confirmed somatic variant 540 NS NS 55 ENSP00000351455.4:p.Gln73Ter ENST00000358632.8:c.217C>T 15:g.74343927G>A CYP11A1_ENST00000358632 ENST00000358632.8 1092 2590 M17CA 2813623 2670012 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS n COSV104570608 COSM9225720 111098280 c.108C>G p.Y36* Substitution - Nonsense 38 15:74345087-74345087 - - .64071 Confirmed somatic variant 29967250 surgery-fixed primary 74 ENSP00000351455.4:p.Tyr36Ter ENST00000358632.8:c.108C>G 15:g.74345087G>C OR8H2_ENST00000618136 ENST00000618136.1 936 15308 3608_T 2194963 2063241 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV57946331 COSM3700091 170300057 c.736G>T p.G246* Substitution - Nonsense 38 11:56105781-56105781 + - NEUTRAL .11491 Confirmed somatic variant 583 NS NS ENSP00000482661.1:p.Gly246Ter ENST00000618136.1:c.736G>T 11:g.56105781G>T MYB_ENST00000525369 ENST00000525369.5 1668 7545 B00287 2910549 2764411 ovary NS NS NS carcinoma clear_cell_carcinoma NS NS n COSV105882869 COSM10049049 147356908 c.217C>T p.R73* Substitution - Nonsense 38 6:135189794-135189794 + - PATHOGENIC .99295 Variant of unknown origin 33947352 surgery-fixed NS ENSP00000435938.1:p.Arg73Ter ENST00000525369.5:c.217C>T 6:g.135189794C>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 HCC2998 1998441 1883513 large_intestine colon NS NS carcinoma adenocarcinoma NS NS y COSV54915173 COSM1672926 111170736 c.661C>T p.R221* Substitution - Nonsense het 38 6:152505318-152505318 - - PATHOGENIC .95524 Confirmed somatic variant 23856246 cell-line primary ENSP00000356222.4:p.Arg221Ter ENST00000367253.8:c.661C>T 6:g.152505318G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 DCG_06 2664384 2524438 central_nervous_system cerebellum NS NS glioma astrocytoma_Grade_IV glioblastoma_multiforme NS y COSV54965249 COSM6840491 111175111 c.381G>A p.W127* Substitution - Nonsense 38 6:152511032-152511032 - - PATHOGENIC .9829 Confirmed somatic variant 28852847 surgery fresh/frozen NS 77 ENSP00000356222.4:p.Trp127Ter ENST00000367253.8:c.381G>A 6:g.152511032C>T PBX1_ENST00000560641 ENST00000560641.5 978 8632 SJBALL040717_R 2870793 2725790 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm acute_lymphoblastic_leukaemia NS NS y COSV63342742 COSM898869 159995190 c.235C>T p.R79* Substitution - Nonsense 38 1:164799738-164799738 + - PATHOGENIC .80355 Confirmed somatic variant 32694622 blood-bone marrow recurrent ENSP00000452727.1:p.Arg79Ter ENST00000560641.5:c.235C>T 1:g.164799738C>T APOL1 ENST00000319136.8 1245 618 122T 2067150 1946947 liver NS NS NS carcinoma hepatocellular_carcinoma NS NS y COSV59868581 COSM1725573 106973001 c.472A>T p.K158* Substitution - Nonsense 38 22:36265260-36265260 + - NEUTRAL .01822 Confirmed somatic variant 23788652 surgery - NOS primary ENSP00000317674.4:p.Lys158Ter ENST00000319136.8:c.472A>T 22:g.36265260A>T ARSK ENST00000380009.8 1611 25239 GBM18-I1 2813453 2669845 central_nervous_system brain NS NS glioma astrocytoma_Grade_IV glioblastoma_multiforme NS y COSV101187537 COSM9187234 114287552 c.1536G>A p.W512* Substitution - Nonsense 38 5:95603451-95603451 + - PATHOGENIC .99147 Confirmed somatic variant 28263318 surgery fresh/frozen NS 40 ENSP00000369346.4:p.Trp512Ter ENST00000380009.8:c.1536G>A 5:g.95603451G>A ARSK ENST00000380009.8 1611 25239 EXTERN_MELA_20140924_094 2839394 2695160 skin scalp NS NS malignant_melanoma NS NS NS y COSV104700034 COSM9395449 114286842 c.530G>A p.W177* Substitution - Nonsense 38 5:95583029-95583029 + - PATHOGENIC .99028 Confirmed somatic variant 28467829 surgery fresh/frozen primary ENSP00000369346.4:p.Trp177Ter ENST00000380009.8:c.530G>A 5:g.95583029G>A PDE1B ENST00000243052.7 1611 8775 T112 2658324 2518483 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV54494734 COSM6742445 98984129 c.904C>T p.R302* Substitution - Nonsense 38 12:54573422-54573422 + - PATHOGENIC .79181 Confirmed somatic variant 27149842 NS NS 62.08 ENSP00000243052.3:p.Arg302Ter ENST00000243052.7:c.904C>T 12:g.54573422C>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 DD107_Org 2749229 2607931 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV105033554 COSM9812999 111177243 c.1012C>T p.Q338* Substitution - Nonsense het 38 6:152488431-152488431 - - PATHOGENIC .99294 Confirmed somatic variant 29703791 organoid culture primary 49 ENSP00000356222.4:p.Gln338Ter ENST00000367253.8:c.1012C>T 6:g.152488431G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 SJHYPO042-D 2590134 2451264 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm acute_lymphoblastic_leukaemia NS NS y COSV54920772 COSM3621967 111204232 c.3130C>T p.R1044* Substitution - Nonsense 38 6:152451103-152451103 - - PATHOGENIC .90744 Confirmed somatic variant 23334668 blood-bone marrow NS 10.1 ENSP00000356222.4:p.Arg1044Ter ENST00000367253.8:c.3130C>T 6:g.152451103G>A APOL1 ENST00000319136.8 1245 618 TCGA-A8-A08T-01 1899709 1788393 breast NS NS NS carcinoma NS NS NS y COSV59868799 COSM444934 106971896 c.910C>T p.R304* Substitution - Nonsense 38 22:36265698-36265698 + - NEUTRAL .00321 Confirmed somatic variant 414 fresh/frozen - NOS primary 64 ENSP00000317674.4:p.Arg304Ter ENST00000319136.8:c.910C>T 22:g.36265698C>T NVL_ENST00000469075 ENST00000469075.5 2298 8070 TCGA-55-8510-01 2194743 2063021 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV99893781 COSM7760618 134303980 c.778G>T p.E260* Substitution - Nonsense 38 1:224300573-224300573 - - PATHOGENIC .75152 Confirmed somatic variant 417 NS NS 55 ENSP00000417826.1:p.Glu260Ter ENST00000469075.5:c.778G>T 1:g.224300573C>A FOXN2_ENST00000616844 ENST00000616844.1 1023 5281 H125 2776318 2634454 lung NS NS NS carcinoma mixed_adenosquamous_carcinoma NS NS y COSV61318549 COSM3186158 167068668 c.502G>T p.E168* Substitution - Nonsense 38 2:48374922-48374922 + - PATHOGENIC .96339 Variant of unknown origin 29681454 NS NS 61 ENSP00000484534.1:p.Glu168Ter ENST00000616844.1:c.502G>T 2:g.48374922G>T FOXN2_ENST00000616844 ENST00000616844.1 1023 5281 H1915 2776251 2634387 lung NS NS NS carcinoma large_cell_carcinoma NS NS y COSV61318694 COSM3186157 167068869 c.487G>T p.G163* Substitution - Nonsense 38 2:48373348-48373348 + - PATHOGENIC .96122 Variant of unknown origin 29681454 NS NS 62 ENSP00000484534.1:p.Gly163Ter ENST00000616844.1:c.487G>T 2:g.48373348G>T GATA3 ENST00000379328.8 1335 4172 TCGA-BH-A0BQ-01 1899899 1788583 breast NS NS NS carcinoma NS NS NS y COSV60523016 COSM5029090 116239860 c.1072A>T p.K358* Substitution - Nonsense 38 10:8073760-8073760 + - PATHOGENIC .92208 Confirmed somatic variant 414 fresh/frozen - NOS primary 39 ENSP00000368632.3:p.Lys358Ter ENST00000379328.8:c.1072A>T 10:g.8073760A>T GATA3 ENST00000379328.8 1335 4172 ATL018 2488646 2351295 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm adult_T_cell_lymphoma-leukaemia NS NS y COSV60515079 COSM5703730 116233427 c.288G>A p.W96* Substitution - Nonsense 38 10:8058351-8058351 + - PATHOGENIC .99198 Confirmed somatic variant 26437031 NS NS 81 ENSP00000368632.3:p.Trp96Ter ENST00000379328.8:c.288G>A 10:g.8058351G>A SIDT1 ENST00000393830.4 2499 25967 TCGA-NC-A5HN-01 2339377 2204360 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99334003 COSM8787741 120355662 c.2429C>A p.S810* Substitution - Nonsense 38 3:113626208-113626208 + - PATHOGENIC .94543 Confirmed somatic variant 418 NS primary 77 ENSP00000377416.4:p.Ser810Ter ENST00000393830.4:c.2429C>A 3:g.113626208C>A DNM1_ENST00000393594 ENST00000393594.7 2556 2972 2834144 2834144 2689928 skin mucosal nasopharynx NS malignant_melanoma NS NS NS y COSV104655694 COSM9328904 119624316 c.1847G>A p.W616* Substitution - Nonsense 38 9:128247440-128247440 + - PATHOGENIC .98976 Variant of unknown origin 28296713 surgery - NOS primary 90 ENSP00000377219.3:p.Trp616Ter ENST00000393594.7:c.1847G>A 9:g.128247440G>A DNM1_ENST00000393594 ENST00000393594.7 2556 2972 587256 1766760 1671080 large_intestine colon NS NS carcinoma adenocarcinoma NS NS y COSV57856633 COSM1204270 119616683 c.1575G>A p.W525* Substitution - Nonsense 38 9:128242249-128242249 + - PATHOGENIC .99546 Variant of unknown origin 22895193 surgery fresh/frozen primary ENSP00000377219.3:p.Trp525Ter ENST00000393594.7:c.1575G>A 9:g.128242249G>A DNM1_ENST00000393594 ENST00000393594.7 2556 2972 H441 2776281 2634417 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV99049756 COSM7365155 119626508 c.1417G>T p.E473* Substitution - Nonsense 38 9:128234102-128234102 + - PATHOGENIC .94757 Variant of unknown origin 29681454 NS NS 33 ENSP00000377219.3:p.Glu473Ter ENST00000393594.7:c.1417G>T 9:g.128234102G>T MYB_ENST00000525369 ENST00000525369.5 1668 7545 BL-16-E44173 2905344 2759600 lung NS NS NS carcinoma non_small_cell_carcinoma NS NS n COSV105882906 COSM9989612 147361627 c.1336G>T p.E446* Substitution - Nonsense 38 6:135201642-135201642 + - PATHOGENIC .97352 Variant of unknown origin 32321774 surgery-fixed metastasis ENSP00000435938.1:p.Glu446Ter ENST00000525369.5:c.1336G>T 6:g.135201642G>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 IGC-02-1054 2662276 2522400 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV55015588 COSM4454197 111203735 c.4315A>T p.K1439* Substitution - Nonsense 38 6:152433941-152433941 - - PATHOGENIC .93294 Confirmed somatic variant 27923066 surgery fresh/frozen primary ENSP00000356222.4:p.Lys1439Ter ENST00000367253.8:c.4315A>T 6:g.152433941T>A RAP1GAP2 ENST00000254695.12 2193 29176 W31T 2745055 2603758 thyroid NS NS NS carcinoma NS NS NS y COSV54576911 COSM6425200 98443119 c.220C>T p.Q74* Substitution - Nonsense 38 17:2962688-2962688 + - PATHOGENIC .95356 Confirmed somatic variant 676 NS primary 60 ENSP00000254695.8:p.Gln74Ter ENST00000254695.12:c.220C>T 17:g.2962688C>T APOL1 ENST00000319136.8 1245 618 5-VS038-T1 2869868 2724865 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV105181777 COSM9772312 106972713 c.93G>A p.W31* Substitution - Nonsense 38 22:36257083-36257083 + - NEUTRAL .02298 Confirmed somatic variant 26950094 surgery fresh/frozen NS 70 ENSP00000317674.4:p.Trp31Ter ENST00000319136.8:c.93G>A 22:g.36257083G>A NVL_ENST00000469075 ENST00000469075.5 2298 8070 TCGA-D3-A1QB-06 2121508 1995744 skin NS NS NS malignant_melanoma NS NS NS y COSV55872544 COSM3484177 134305369 c.1231G>T p.E411* Substitution - Nonsense 38 1:224289555-224289555 - - NEUTRAL .08329 Confirmed somatic variant 540 NS NS 75 ENSP00000417826.1:p.Glu411Ter ENST00000469075.5:c.1231G>T 1:g.224289555C>A NVL_ENST00000469075 ENST00000469075.5 2298 8070 TCGA-EY-A2OP-01 2198363 2066641 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV99894976 COSM8815747 134302086 c.1717C>T p.R573* Substitution - Nonsense 38 1:224275431-224275431 - - PATHOGENIC .91846 Confirmed somatic variant 419 NS NS 63 ENSP00000417826.1:p.Arg573Ter ENST00000469075.5:c.1717C>T 1:g.224275431G>A FOXN2_ENST00000616844 ENST00000616844.1 1023 5281 ME002T 1673883 1586939 skin extremity NS NS malignant_melanoma NS NS NS y COSV61317768 COSM221947 167069996 c.208C>T p.R70* Substitution - Nonsense 38 2:48346695-48346695 + - PATHOGENIC .85147 Reported in another cancer sample as somatic 22622578 surgery - NOS metastasis 55 ENSP00000484534.1:p.Arg70Ter ENST00000616844.1:c.208C>T 2:g.48346695C>T FOXN2_ENST00000616844 ENST00000616844.1 1023 5281 TCGA-D1-A101-01 1783492 1687491 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV61319304 COSM1021332 167069789 c.418C>T p.R140* Substitution - Nonsense 38 2:48362695-48362695 + - PATHOGENIC .9468 Confirmed somatic variant 419 fresh/frozen - NOS primary 60 ENSP00000484534.1:p.Arg140Ter ENST00000616844.1:c.418C>T 2:g.48362695C>T GATA3 ENST00000379328.8 1335 4172 ATL256 2488854 2351503 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm adult_T_cell_lymphoma-leukaemia NS NS n COSV60515079 COSM5703730 116233427 c.288G>A p.W96* Substitution - Nonsense 38 10:8058351-8058351 + - PATHOGENIC .99198 Confirmed somatic variant 26437031 NS NS ENSP00000368632.3:p.Trp96Ter ENST00000379328.8:c.288G>A 10:g.8058351G>A PDE1B ENST00000243052.7 1611 8775 ESCC_BICR_052T 2456907 2319744 oesophagus NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV54492739 COSM5434642 98985109 c.343C>T p.R115* Substitution - Nonsense 38 12:54569299-54569299 + - PATHOGENIC .96886 Confirmed somatic variant 582 NS primary 61 ENSP00000243052.3:p.Arg115Ter ENST00000243052.7:c.343C>T 12:g.54569299C>T MYB_ENST00000525369 ENST00000525369.5 1668 7545 2834132 2834132 2689916 skin mucosal anorectal NS malignant_melanoma NS NS NS y COSV104607975 COSM9334219 147360087 c.157A>T p.K53* Substitution - Nonsense 38 6:135187849-135187849 + - PATHOGENIC .96462 Variant of unknown origin 28296713 surgery - NOS primary 55 ENSP00000435938.1:p.Lys53Ter ENST00000525369.5:c.157A>T 6:g.135187849A>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 45T 2745887 2604590 liver NS NS NS other neoplasm NS NS y COSV54942142 COSM1729694 111187214 c.3610G>T p.G1204* Substitution - Nonsense 38 6:152447517-152447517 - - PATHOGENIC .96573 Confirmed somatic variant 660 NS primary 56 ENSP00000356222.4:p.Gly1204Ter ENST00000367253.8:c.3610G>T 6:g.152447517C>A APOL1 ENST00000319136.8 1245 618 TCGA-EE-A2MR-06 2121688 1995924 skin NS NS NS malignant_melanoma NS NS NS y COSV59868767 COSM3553930 106974056 c.544C>T p.Q182* Substitution - Nonsense 38 22:36265332-36265332 + - NEUTRAL .00846 Confirmed somatic variant 540 NS NS 61 ENSP00000317674.4:p.Gln182Ter ENST00000319136.8:c.544C>T 22:g.36265332C>T GATA3 ENST00000379328.8 1335 4172 10677523 2751151 2609847 lung NS NS NS carcinoma small_cell_carcinoma NS NS n COSV105826529 COSM9522417 116235989 c.787G>T p.E263* Substitution - Nonsense 38 10:8064001-8064001 + - Confirmed somatic variant 29748005 circulating tumour NS ENSP00000368632.3:p.Glu263Ter ENST00000379328.8:c.787G>T 10:g.8064001G>T GATA3 ENST00000379328.8 1335 4172 TCGA-OL-A5RX-01 2187698 2055976 breast NS NS NS carcinoma NS NS NS y COSV60522076 COSM3807810 116232754 c.1039A>T p.K347* Substitution - Nonsense 38 10:8069587-8069587 + - PATHOGENIC .94684 Confirmed somatic variant 414 NS NS 51 ENSP00000368632.3:p.Lys347Ter ENST00000379328.8:c.1039A>T 10:g.8069587A>T DNM1_ENST00000393594 ENST00000393594.7 2556 2972 PCSI_0062_Pa_X 2121277 1995513 pancreas NS NS NS carcinoma ductal_carcinoma NS NS y COSV57851878 COSM3382433 119617029 c.1543C>T p.Q515* Substitution - Nonsense 38 9:128239777-128239777 + - PATHOGENIC .97675 Confirmed somatic variant 382 NS NS ENSP00000377219.3:p.Gln515Ter ENST00000393594.7:c.1543C>T 9:g.128239777C>T DNM1_ENST00000393594 ENST00000393594.7 2556 2972 SC_9099 2467420 2330251 prostate NS NS NS carcinoma NS NS NS y COSV57848464 COSM5565217 119616496 c.766C>T p.R256* Substitution - Nonsense het 38 9:128220258-128220258 + - PATHOGENIC .83497 Confirmed somatic variant 26000489 surgery - NOS metastasis 79 ENSP00000377219.3:p.Arg256Ter ENST00000393594.7:c.766C>T 9:g.128220258C>T MYB_ENST00000525369 ENST00000525369.5 1668 7545 2834135 2834135 2689919 skin mucosal female_genital_tract_(site_indeterminate) NS malignant_melanoma NS NS NS y COSV104607987 COSM9338438 147359289 c.78T>A p.Y26* Substitution - Nonsense 38 6:135185957-135185957 + - PATHOGENIC .85401 Variant of unknown origin 28296713 surgery - NOS primary 72 ENSP00000435938.1:p.Tyr26Ter ENST00000525369.5:c.78T>A 6:g.135185957T>A MYB_ENST00000525369 ENST00000525369.5 1668 7545 5-WS009-T3 2869941 2724938 skin NS NS NS carcinoma basal_cell_carcinoma NS NS n COSV105151700 COSM9808645 147361915 c.643C>T p.Q215* Substitution - Nonsense 38 6:135192439-135192439 + - PATHOGENIC .91644 Variant of unknown origin 26950094 surgery - NOS NS ENSP00000435938.1:p.Gln215Ter ENST00000525369.5:c.643C>T 6:g.135192439C>T ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-AG-A002-01 1651648 1566435 large_intestine rectum NS NS carcinoma adenocarcinoma NS NS y COSV71392517 COSM263384 138583509 c.4798G>T p.E1600* Substitution - Nonsense 38 3:78600121-78600121 - - PATHOGENIC .98971 Confirmed somatic variant 22810696 375 NS primary 35 ENSP00000420637.1:p.Glu1600Ter ENST00000495273.5:c.4798G>T 3:g.78600121C>A FOXN2_ENST00000616844 ENST00000616844.1 1023 5281 46T 2745888 2604591 liver NS NS NS other neoplasm NS NS y COSV61319597 COSM1729757 167070510 c.262A>T p.K88* Substitution - Nonsense 38 2:48346749-48346749 + - PATHOGENIC .89039 Confirmed somatic variant 660 NS primary 45 ENSP00000484534.1:p.Lys88Ter ENST00000616844.1:c.262A>T 2:g.48346749A>T FOXN2_ENST00000616844 ENST00000616844.1 1023 5281 046T 2067115 1946912 liver NS NS NS carcinoma hepatocellular_carcinoma NS NS y COSV61319597 COSM1729757 167070510 c.262A>T p.K88* Substitution - Nonsense 38 2:48346749-48346749 + - PATHOGENIC .89039 Confirmed somatic variant 23788652 surgery - NOS primary ENSP00000484534.1:p.Lys88Ter ENST00000616844.1:c.262A>T 2:g.48346749A>T GATA3 ENST00000379328.8 1335 4172 P-0016469-T01-IM6 2830845 2686660 breast NS NS NS carcinoma ductal_carcinoma NS NS n COSV60515523 COSM41680 116232157 c.1099C>T p.R367* Substitution - Nonsense 38 10:8073787-8073787 + - PATHOGENIC .75574 Confirmed somatic variant 30205045 surgery-fixed primary 45 ENSP00000368632.3:p.Arg367Ter ENST00000379328.8:c.1099C>T 10:g.8073787C>T PDE1B ENST00000243052.7 1611 8775 TCGA-KQ-A41O-01 2457400 2320237 urinary_tract bladder NS NS carcinoma NS NS NS y COSV54494734 COSM6742445 98984129 c.904C>T p.R302* Substitution - Nonsense 38 12:54573422-54573422 + - PATHOGENIC .79181 Confirmed somatic variant 413 NS primary 84 ENSP00000243052.3:p.Arg302Ter ENST00000243052.7:c.904C>T 12:g.54573422C>T PDE1B ENST00000243052.7 1611 8775 MELA_17792 2760726 2619259 skin upper_arm NS NS malignant_melanoma nodular NS NS y COSV104540972 COSM9299213 98986251 c.367C>T p.R123* Substitution - Nonsense 38 12:54569323-54569323 + - PATHOGENIC .95702 Confirmed somatic variant 30178487 surgery fresh/frozen metastasis 18 ENSP00000243052.3:p.Arg123Ter ENST00000243052.7:c.367C>T 12:g.54569323C>T SIDT1 ENST00000393830.4 2499 25967 Pa14C 1473126 1396825 pancreas NS NS NS NS NS NS NS y COSV53499497 COSM84815 120355908 c.835G>T p.E279* Substitution - Nonsense het 38 3:113583496-113583496 + - PATHOGENIC .90686 Confirmed somatic variant 327 cell-line NS ENSP00000377416.4:p.Glu279Ter ENST00000393830.4:c.835G>T 3:g.113583496G>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 EXTERN_MELA_20140924_033 2839377 2695143 skin neck NS NS malignant_melanoma NS NS NS y COSV104542654 COSM9444678 111198024 c.3416G>A p.W1139* Substitution - Nonsense 38 6:152449621-152449621 - - PATHOGENIC .96757 Confirmed somatic variant 28467829 surgery fresh/frozen metastasis ENSP00000356222.4:p.Trp1139Ter ENST00000367253.8:c.3416G>A 6:g.152449621C>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 8031073 1842484 1735749 pancreas NS NS NS carcinoma ductal_carcinoma NS NS y COSV54928163 COSM3393916 111227435 c.4600G>T p.E1534* Substitution - Nonsense 38 6:152430571-152430571 - - PATHOGENIC .96244 Confirmed somatic variant 328 fresh/frozen - NOS primary ENSP00000356222.4:p.Glu1534Ter ENST00000367253.8:c.4600G>T 6:g.152430571C>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 5-WS012-T2 2869948 2724945 skin NS NS NS carcinoma basal_cell_carcinoma NS NS n COSV71394047 COSM1048634 138559722 c.2431C>T p.R811* Substitution - Nonsense 38 3:78657173-78657173 - - PATHOGENIC .97975 Confirmed somatic variant 26950094 surgery - NOS NS 82 ENSP00000420637.1:p.Arg811Ter ENST00000495273.5:c.2431C>T 3:g.78657173G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 5-NB008-T1 2869812 2724809 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV71395871 COSM1048679 138568533 c.1264C>T p.R422* Substitution - Nonsense 38 3:78670272-78670272 - - PATHOGENIC .98975 Confirmed somatic variant 26950094 surgery fresh/frozen NS 81 ENSP00000420637.1:p.Arg422Ter ENST00000495273.5:c.1264C>T 3:g.78670272G>A NVL_ENST00000469075 ENST00000469075.5 2298 8070 TCGA-VS-A954-01 2340357 2205340 cervix NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV55874920 COSM4462155 134300789 c.961C>T p.R321* Substitution - Nonsense 38 1:224294358-224294358 - - PATHOGENIC .90266 Confirmed somatic variant 415 NS primary 67 ENSP00000417826.1:p.Arg321Ter ENST00000469075.5:c.961C>T 1:g.224294358G>A SIDT1 ENST00000393830.4 2499 25967 TCGA-WE-A8K4-01 2339746 2204729 skin NS NS NS malignant_melanoma NS NS NS y COSV99334056 COSM7982433 120358466 c.1887G>A p.W629* Substitution - Nonsense 38 3:113612115-113612115 + - PATHOGENIC .99039 Confirmed somatic variant 540 NS primary 85 ENSP00000377416.4:p.Trp629Ter ENST00000393830.4:c.1887G>A 3:g.113612115G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 5-VS037-T3 2869864 2724861 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV105031861 COSM9760957 111173404 c.561G>A p.W187* Substitution - Nonsense 38 6:152510213-152510213 - - PATHOGENIC .95656 Confirmed somatic variant 26950094 surgery fresh/frozen NS 83 ENSP00000356222.4:p.Trp187Ter ENST00000367253.8:c.561G>A 6:g.152510213C>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 T30 2658658 2518817 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV54930866 COSM6399443 111184559 c.4030C>T p.R1344* Substitution - Nonsense 38 6:152441249-152441249 - - PATHOGENIC .8428 Confirmed somatic variant 27149842 NS NS 73.75 ENSP00000356222.4:p.Arg1344Ter ENST00000367253.8:c.4030C>T 6:g.152441249G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 8665_CLM 2500995 2363346 large_intestine rectum NS NS carcinoma adenocarcinoma NS NS y COSV71391406 COSM5756367 138558196 c.1759G>T p.G587* Substitution - Nonsense 38 3:78667982-78667982 - - PATHOGENIC .98189 Confirmed somatic variant 26109429 fresh/frozen - NOS metastasis 52 ENSP00000420637.1:p.Gly587Ter ENST00000495273.5:c.1759G>T 3:g.78667982C>A NVL_ENST00000469075 ENST00000469075.5 2298 8070 TCGA-F1-6874-01 2198138 2066416 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV55870703 COSM4028623 134306180 c.1825C>T p.R609* Substitution - Nonsense 38 1:224268118-224268118 - - PATHOGENIC .93445 Confirmed somatic variant 541 NS NS 79 ENSP00000417826.1:p.Arg609Ter ENST00000469075.5:c.1825C>T 1:g.224268118G>A FOXN2_ENST00000616844 ENST00000616844.1 1023 5281 sysucc-311T 2456736 2319573 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV61320362 COSM5465573 167070395 c.59C>A p.S20* Substitution - Nonsense 38 2:48346546-48346546 + - PATHOGENIC .93814 Confirmed somatic variant 646 NS primary 54 ENSP00000484534.1:p.Ser20Ter ENST00000616844.1:c.59C>A 2:g.48346546C>A FOXN2_ENST00000616844 ENST00000616844.1 1023 5281 TCGA-AX-A2HD-01 2198411 2066689 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV61320055 COSM4094466 167068759 c.883C>T p.R295* Substitution - Nonsense 38 2:48375303-48375303 + - NEUTRAL .29816 Confirmed somatic variant 419 NS NS 69 ENSP00000484534.1:p.Arg295Ter ENST00000616844.1:c.883C>T 2:g.48375303C>T GATA3 ENST00000379328.8 1335 4172 P-0003950-T02-IM5 2720410 2579231 breast NS NS NS carcinoma ductal_carcinoma NS NS n COSV60515523 COSM41680 116232157 c.1099C>T p.R367* Substitution - Nonsense het 38 10:8073787-8073787 + - PATHOGENIC .75574 Confirmed somatic variant 28481359 surgery-fixed metastasis ENSP00000368632.3:p.Arg367Ter ENST00000379328.8:c.1099C>T 10:g.8073787C>T PDE1B ENST00000243052.7 1611 8775 TCGA-19-5956-01 2178192 2046490 central_nervous_system brain NS NS glioma astrocytoma_Grade_IV glioblastoma_multiforme NS y COSV99672746 COSM7470622 98988319 c.964G>T p.E322* Substitution - Nonsense 38 12:54573609-54573609 + - PATHOGENIC .9838 Confirmed somatic variant 329 NS NS 53 ENSP00000243052.3:p.Glu322Ter ENST00000243052.7:c.964G>T 12:g.54573609G>T PDE1B ENST00000243052.7 1611 8775 TCGA-D3-A3MV-06 2121539 1995775 skin NS NS NS malignant_melanoma NS NS NS y COSV54492839 COSM3462858 98989604 c.96G>A p.W32* Substitution - Nonsense 38 12:54549968-54549968 + - PATHOGENIC .86943 Confirmed somatic variant 540 NS NS 38 ENSP00000243052.3:p.Trp32Ter ENST00000243052.7:c.96G>A 12:g.54549968G>A PDE1B ENST00000243052.7 1611 8775 183 2748155 2606858 stomach NS NS NS carcinoma NS NS NS y COSV99672183 COSM8502080 98985023 c.319C>T p.Q107* Substitution - Nonsense 38 12:54569275-54569275 + - PATHOGENIC .92767 Confirmed somatic variant 683 NS primary ENSP00000243052.3:p.Gln107Ter ENST00000243052.7:c.319C>T 12:g.54569275C>T SIDT1 ENST00000393830.4 2499 25967 PT52 2521309 2383652 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV53498081 COSM5939162 120353271 c.1338G>A p.W446* Substitution - Nonsense 38 3:113604910-113604910 + - PATHOGENIC .99307 Confirmed somatic variant 25759019 surgery fresh/frozen NS ENSP00000377416.4:p.Trp446Ter ENST00000393830.4:c.1338G>A 3:g.113604910G>A MYB_ENST00000525369 ENST00000525369.5 1668 7545 TCGA-ZF-A9RF-01 2385816 2248648 urinary_tract bladder NS NS carcinoma NS NS NS y COSV100214859 COSM7639668 147359403 c.880C>T p.R294* Substitution - Nonsense 38 6:135194392-135194392 + - PATHOGENIC .93568 Confirmed somatic variant 413 NS primary 74 ENSP00000435938.1:p.Arg294Ter ENST00000525369.5:c.880C>T 6:g.135194392C>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 38A2 2662888 2523010 small_intestine duodenum NS NS adenoma tubular NS NS y COSV104540020 COSM9278714 111229359 c.4981G>T p.E1661* Substitution - Nonsense 38 6:152427812-152427812 - - PATHOGENIC .98568 Confirmed somatic variant 28790112 surgery fresh/frozen NS 47 ENSP00000356222.4:p.Glu1661Ter ENST00000367253.8:c.4981G>T 6:g.152427812C>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-12-3646-01 2178237 2046535 central_nervous_system brain NS NS glioma astrocytoma_Grade_IV glioblastoma_multiforme NS y COSV99555533 COSM7458466 111208012 c.91C>T p.R31* Substitution - Nonsense 38 6:152539998-152539998 - - PATHOGENIC .8285 Confirmed somatic variant 329 NS NS 59 ENSP00000356222.4:p.Arg31Ter ENST00000367253.8:c.91C>T 6:g.152539998G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 S00944_1 2480836 2343581 lung NS NS NS carcinoma small_cell_carcinoma NS NS y COSV55061084 COSM315723 111189394 c.4016T>G p.L1339* Substitution - Nonsense 38 6:152441263-152441263 - - PATHOGENIC .98953 Confirmed somatic variant 26168399 autopsy-fresh/frozen primary 64 ENSP00000356222.4:p.Leu1339Ter ENST00000367253.8:c.4016T>G 6:g.152441263A>C APOL1 ENST00000319136.8 1245 618 TCGA-C5-A1BF-01 2193355 2061633 cervix NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV59869073 COSM4836741 106972122 c.322G>T p.E108* Substitution - Nonsense 38 22:36261682-36261682 + - NEUTRAL .02634 Confirmed somatic variant 415 NS NS 46 ENSP00000317674.4:p.Glu108Ter ENST00000319136.8:c.322G>T 22:g.36261682G>T APOL1 ENST00000319136.8 1245 618 YUWAND 2013707 1896339 skin mucosal sinonasal NS malignant_melanoma NS NS NS y COSV59869142 COSM1714337 106974398 c.752G>A p.W251* Substitution - Nonsense het 38 22:36265540-36265540 + - NEUTRAL .00495 Confirmed somatic variant 22842228 short-term culture metastasis 59 ENSP00000317674.4:p.Trp251Ter ENST00000319136.8:c.752G>A 22:g.36265540G>A NVL_ENST00000469075 ENST00000469075.5 2298 8070 T111 2658341 2518500 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV55872177 COSM1218126 134300441 c.2119C>T p.R707* Substitution - Nonsense 38 1:224233264-224233264 - - PATHOGENIC .85964 Confirmed somatic variant 27149842 NS NS 71.33 ENSP00000417826.1:p.Arg707Ter ENST00000469075.5:c.2119C>T 1:g.224233264G>A FOXN2_ENST00000616844 ENST00000616844.1 1023 5281 GCTK_511_T 2747492 2606195 stomach NS NS NS carcinoma NS NS NS y COSV61319304 COSM1021332 167069789 c.418C>T p.R140* Substitution - Nonsense 38 2:48362695-48362695 + - PATHOGENIC .9468 Confirmed somatic variant 683 NS primary ENSP00000484534.1:p.Arg140Ter ENST00000616844.1:c.418C>T 2:g.48362695C>T FOXN2_ENST00000616844 ENST00000616844.1 1023 5281 S01516_1 2480851 2343596 lung NS NS NS carcinoma small_cell_carcinoma NS NS y COSV61319244 COSM5669110 167070056 c.913G>T p.E305* Substitution - Nonsense 38 2:48375333-48375333 + - PATHOGENIC .99754 Confirmed somatic variant 26168399 surgery fresh/frozen primary 62 ENSP00000484534.1:p.Glu305Ter ENST00000616844.1:c.913G>T 2:g.48375333G>T FOXN2_ENST00000616844 ENST00000616844.1 1023 5281 7 2584590 2445754 skin face NS NS carcinoma Merkel_cell_carcinoma NS NS y COSV61319776 COSM6010102 167069758 c.718G>T p.E240* Substitution - Nonsense 38 2:48375138-48375138 + - PATHOGENIC .97908 Confirmed somatic variant 27592799 fixed - NOS primary 75 ENSP00000484534.1:p.Glu240Ter ENST00000616844.1:c.718G>T 2:g.48375138G>T GATA3 ENST00000379328.8 1335 4172 P-0001485-T01-IM3 2717391 2576212 skin NS NS NS malignant_melanoma NS NS NS n COSV60520614 COSM6917195 116233122 c.1132A>T p.K378* Substitution - Nonsense het 38 10:8073820-8073820 + - PATHOGENIC .72702 Confirmed somatic variant 28481359 surgery-fixed metastasis ENSP00000368632.3:p.Lys378Ter ENST00000379328.8:c.1132A>T 10:g.8073820A>T PDE1B ENST00000243052.7 1611 8775 TCGA-XF-A9SP-01 2457408 2320245 urinary_tract bladder NS NS carcinoma NS NS NS y COSV99226293 COSM7656728 98989334 c.1381C>T p.Q461* Substitution - Nonsense 38 12:54576575-54576575 + - PATHOGENIC .96176 Confirmed somatic variant 413 NS primary 59 ENSP00000243052.3:p.Gln461Ter ENST00000243052.7:c.1381C>T 12:g.54576575C>T DNM1_ENST00000393594 ENST00000393594.7 2556 2972 TCGA-38-4625-01 1780089 1684088 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV100359580 COSM8678576 119625101 c.1147G>T p.E383* Substitution - Nonsense 38 9:128222811-128222811 + - PATHOGENIC .99437 Confirmed somatic variant 417 fresh/frozen - NOS primary 66 ENSP00000377219.3:p.Glu383Ter ENST00000393594.7:c.1147G>T 9:g.128222811G>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-GF-A6C9-06 2339468 2204451 skin NS NS NS malignant_melanoma NS NS NS y COSV55072392 COSM4902098 111200639 c.304A>T p.R102* Substitution - Nonsense 38 6:152520464-152520464 - - PATHOGENIC .97247 Confirmed somatic variant 540 NS NS 78 ENSP00000356222.4:p.Arg102Ter ENST00000367253.8:c.304A>T 6:g.152520464T>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 PD11464a 1764437 1668789 breast NS NS NS carcinoma ductal_carcinoma NS NS y COSV54899826 COSM1441677 111173688 c.706C>T p.R236* Substitution - Nonsense 38 6:152505273-152505273 - - PATHOGENIC .83123 Confirmed somatic variant 652 NS NS ENSP00000356222.4:p.Arg236Ter ENST00000367253.8:c.706C>T 6:g.152505273G>A APOL1 ENST00000319136.8 1245 618 122T 2745836 2604539 liver NS NS NS other neoplasm NS NS y COSV59868581 COSM1725573 106973001 c.472A>T p.K158* Substitution - Nonsense 38 22:36265260-36265260 + - NEUTRAL .01822 Confirmed somatic variant 660 NS primary 41 ENSP00000317674.4:p.Lys158Ter ENST00000319136.8:c.472A>T 22:g.36265260A>T ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-56-7222-01 2195099 2063377 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV71393020 COSM420294 138557186 c.2969C>G p.S990* Substitution - Nonsense 38 3:78636042-78636042 - - PATHOGENIC .98875 Confirmed somatic variant 418 NS NS 60 ENSP00000420637.1:p.Ser990Ter ENST00000495273.5:c.2969C>G 3:g.78636042G>C ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-F1-6177-01 2198156 2066434 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV71396457 COSM4120340 138572332 c.1855C>T p.Q619* Substitution - Nonsense 38 3:78667886-78667886 - - PATHOGENIC .99106 Confirmed somatic variant 541 NS NS 90 ENSP00000420637.1:p.Gln619Ter ENST00000495273.5:c.1855C>T 3:g.78667886G>A NVL_ENST00000469075 ENST00000469075.5 2298 8070 TCGA-F4-6856-01 1651313 1566100 large_intestine caecum NS NS carcinoma adenocarcinoma NS NS y COSV55874700 COSM3689376 134300282 c.46C>T p.R16* Substitution - Nonsense 38 1:224330082-224330082 - - .69824 Confirmed somatic variant 376 NS NS 45 ENSP00000417826.1:p.Arg16Ter ENST00000469075.5:c.46C>T 1:g.224330082G>A FOXN2_ENST00000616844 ENST00000616844.1 1023 5281 TCGA-D7-A6EY-01 2262884 2129868 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV61319304 COSM1021332 167069789 c.418C>T p.R140* Substitution - Nonsense 38 2:48362695-48362695 + - PATHOGENIC .9468 Confirmed somatic variant 541 NS primary 72 ENSP00000484534.1:p.Arg140Ter ENST00000616844.1:c.418C>T 2:g.48362695C>T DNM1_ENST00000393594 ENST00000393594.7 2556 2972 TCGA-AO-A128-01 2187821 2056099 breast NS NS NS carcinoma NS NS NS y COSV100359413 COSM7673617 119621982 c.1090C>T p.R364* Substitution - Nonsense 38 9:128222558-128222558 + - PATHOGENIC .97128 Confirmed somatic variant 414 NS NS 61 ENSP00000377219.3:p.Arg364Ter ENST00000393594.7:c.1090C>T 9:g.128222558C>T MYB_ENST00000525369 ENST00000525369.5 1668 7545 TCGA-EE-A3AG-06 2121698 1995934 skin NS NS NS malignant_melanoma NS NS NS y COSV100214851 COSM7923434 147354439 c.448G>T p.E150* Substitution - Nonsense 38 6:135190268-135190268 + - PATHOGENIC .99106 Confirmed somatic variant 540 NS NS 25 ENSP00000435938.1:p.Glu150Ter ENST00000525369.5:c.448G>T 6:g.135190268G>T MYB_ENST00000525369 ENST00000525369.5 1668 7545 TCGA-E2-A15G-01 1900139 1788823 breast NS NS NS carcinoma NS NS NS y COSV57202803 COSM450553 147362267 c.441G>A p.W147* Substitution - Nonsense 38 6:135190261-135190261 + - PATHOGENIC .98996 Confirmed somatic variant 414 fresh/frozen - NOS primary 76 ENSP00000435938.1:p.Trp147Ter ENST00000525369.5:c.441G>A 6:g.135190261G>A APOL1 ENST00000319136.8 1245 618 TCGA-28-1760-01 2178188 2046486 central_nervous_system brain NS NS glioma astrocytoma_Grade_IV glioblastoma_multiforme NS y COSV100046146 COSM7482888 106974126 c.10A>T p.K4* Substitution - Nonsense 38 22:36253972-36253972 + - NEUTRAL .07642 Confirmed somatic variant 329 NS NS 48 ENSP00000317674.4:p.Lys4Ter ENST00000319136.8:c.10A>T 22:g.36253972A>T DXO_ENST00000375356 ENST00000375356.7 1191 2992 2834143 2834143 2689927 skin mucosal nasopharynx NS malignant_melanoma NS NS NS y COSV104642407 COSM9313523 112672895 c.264C>A p.Y88* Substitution - Nonsense 38 6:31971412-31971412 - - PATHOGENIC .73287 Variant of unknown origin 28296713 surgery - NOS primary 73 ENSP00000364505.3:p.Tyr88Ter ENST00000375356.7:c.264C>A 6:g.31971412G>T DXO_ENST00000375356 ENST00000375356.7 1191 2992 2834144 2834144 2689928 skin mucosal nasopharynx NS malignant_melanoma NS NS NS y COSV104642396 COSM9328933 112672858 c.376G>T p.E126* Substitution - Nonsense 38 6:31971128-31971128 - - PATHOGENIC .88608 Variant of unknown origin 28296713 surgery - NOS primary 90 ENSP00000364505.3:p.Glu126Ter ENST00000375356.7:c.376G>T 6:g.31971128C>A FOXN2_ENST00000616844 ENST00000616844.1 1023 5281 GP02 2782238 2640022 prostate NS NS NS carcinoma NS NS NS y COSV100489586 COSM7412848 167070375 c.50C>G p.S17* Substitution - Nonsense 38 2:48346537-48346537 + - PATHOGENIC .92943 Confirmed somatic variant 26844274 surgery fresh/frozen primary 68 ENSP00000484534.1:p.Ser17Ter ENST00000616844.1:c.50C>G 2:g.48346537C>G FOXN2_ENST00000616844 ENST00000616844.1 1023 5281 TCGA-EE-A17Z-06 2121620 1995856 skin NS NS NS malignant_melanoma NS NS NS y COSV100488893 COSM7987852 167069748 c.625G>T p.E209* Substitution - Nonsense 38 2:48375045-48375045 + - PATHOGENIC .98994 Confirmed somatic variant 540 NS NS 57 ENSP00000484534.1:p.Glu209Ter ENST00000616844.1:c.625G>T 2:g.48375045G>T FOXN2_ENST00000616844 ENST00000616844.1 1023 5281 TCGA-CD-A4MG-01 2198123 2066401 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV61320055 COSM4094466 167068759 c.883C>T p.R295* Substitution - Nonsense 38 2:48375303-48375303 + - NEUTRAL .29816 Confirmed somatic variant 541 NS NS 76 ENSP00000484534.1:p.Arg295Ter ENST00000616844.1:c.883C>T 2:g.48375303C>T GATA3 ENST00000379328.8 1335 4172 P-0006642-T01-IM5 2723021 2581842 lung NS NS NS carcinoma adenocarcinoma NS NS n COSV60521359 COSM5703723 116235217 c.217C>T p.Q73* Substitution - Nonsense het 38 10:8055872-8055872 + - PATHOGENIC .99019 Confirmed somatic variant 28481359 surgery-fixed metastasis ENSP00000368632.3:p.Gln73Ter ENST00000379328.8:c.217C>T 10:g.8055872C>T GATA3 ENST00000379328.8 1335 4172 ATL346 2488943 2351592 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm adult_T_cell_lymphoma-leukaemia NS NS n COSV60521359 COSM5703723 116235217 c.217C>T p.Q73* Substitution - Nonsense 38 10:8055872-8055872 + - PATHOGENIC .99019 Confirmed somatic variant 26437031 NS NS ENSP00000368632.3:p.Gln73Ter ENST00000379328.8:c.217C>T 10:g.8055872C>T GATA3 ENST00000379328.8 1335 4172 ATL144 2488769 2351418 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm adult_T_cell_lymphoma-leukaemia NS NS n COSV60521359 COSM5703723 116235217 c.217C>T p.Q73* Substitution - Nonsense 38 10:8055872-8055872 + - PATHOGENIC .99019 Confirmed somatic variant 26437031 NS NS ENSP00000368632.3:p.Gln73Ter ENST00000379328.8:c.217C>T 10:g.8055872C>T GATA3 ENST00000379328.8 1335 4172 P-0003950-T01-IM5 2829671 2685486 breast NS NS NS carcinoma ductal_carcinoma NS NS n COSV60515523 COSM41680 116232157 c.1099C>T p.R367* Substitution - Nonsense 38 10:8073787-8073787 + - PATHOGENIC .75574 Confirmed somatic variant 30205045 surgery-fixed metastasis 51 ENSP00000368632.3:p.Arg367Ter ENST00000379328.8:c.1099C>T 10:g.8073787C>T PDE1B ENST00000243052.7 1611 8775 S31_pre 2468147 2330978 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma NS NS y COSV54496817 COSM5574865 98986063 c.741C>A p.C247* Substitution - Nonsense 38 12:54573153-54573153 + - .6733 Confirmed somatic variant 26675346 blood-bone marrow NS 55 ENSP00000243052.3:p.Cys247Ter ENST00000243052.7:c.741C>A 12:g.54573153C>A MYB_ENST00000525369 ENST00000525369.5 1668 7545 PTC_294 2549868 2411323 thyroid NS NS NS carcinoma NS NS NS y COSV57198261 COSM5959597 147357104 c.498G>A p.W166* Substitution - Nonsense 38 6:135190318-135190318 + - PATHOGENIC .98996 Confirmed somatic variant 589 NS primary 43 ENSP00000435938.1:p.Trp166Ter ENST00000525369.5:c.498G>A 6:g.135190318G>A MYB_ENST00000525369 ENST00000525369.5 1668 7545 C141 2293716 2159780 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV57196268 COSM4441523 147360720 c.859G>T p.E287* Substitution - Nonsense het 38 6:135194371-135194371 + - PATHOGENIC .99749 Confirmed somatic variant 24211491 NS NS ENSP00000435938.1:p.Glu287Ter ENST00000525369.5:c.859G>T 6:g.135194371G>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 T3174 2658322 2518481 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV54899826 COSM1441677 111173688 c.706C>T p.R236* Substitution - Nonsense 38 6:152505273-152505273 - - PATHOGENIC .83123 Confirmed somatic variant 27149842 NS NS 74.41 ENSP00000356222.4:p.Arg236Ter ENST00000367253.8:c.706C>T 6:g.152505273G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 DN12007 2549233 2410688 breast NS NS NS carcinoma HER-positive_carcinoma NS NS y COSV54899826 COSM1441677 111173688 c.706C>T p.R236* Substitution - Nonsense 38 6:152505273-152505273 - - PATHOGENIC .83123 Confirmed somatic variant 668 NS primary 41 ENSP00000356222.4:p.Arg236Ter ENST00000367253.8:c.706C>T 6:g.152505273G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 2011-2341:2012-303-T 2297752 2163353 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS n COSV54989053 COSM4605057 111178814 c.3034C>T p.Q1012* Substitution - Nonsense hom 38 6:152451199-152451199 - - PATHOGENIC .99159 Confirmed somatic variant 25056374 surgery-fixed NS ENSP00000356222.4:p.Gln1012Ter ENST00000367253.8:c.3034C>T 6:g.152451199G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-QF-A5YS-01 2339973 2204956 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV55086157 COSM4997664 111194449 c.3004C>T p.R1002* Substitution - Nonsense 38 6:152453609-152453609 - - NEUTRAL .16467 Confirmed somatic variant 419 NS primary 57 ENSP00000356222.4:p.Arg1002Ter ENST00000367253.8:c.3004C>T 6:g.152453609G>A DXO_ENST00000375356 ENST00000375356.7 1191 2992 5-VS023-T1 2869843 2724840 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV105225223 COSM9714570 112672345 c.169C>T p.Q57* Substitution - Nonsense 38 6:31971507-31971507 - - NEUTRAL .18692 Confirmed somatic variant 26950094 surgery fresh/frozen NS 75 ENSP00000364505.3:p.Gln57Ter ENST00000375356.7:c.169C>T 6:g.31971507G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 ATL052 2488679 2351328 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm adult_T_cell_lymphoma-leukaemia NS NS y COSV71398526 COSM5708914 138570886 c.1018G>T p.G340* Substitution - Nonsense 38 3:78688692-78688692 - - PATHOGENIC .98727 Confirmed somatic variant 26437031 NS NS 76 ENSP00000420637.1:p.Gly340Ter ENST00000495273.5:c.1018G>T 3:g.78688692C>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-CV-7568-01 2193491 2061769 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV101459551 COSM8328803 138576174 c.2539C>T p.Q847* Substitution - Nonsense 38 3:78651897-78651897 - - PATHOGENIC .98974 Confirmed somatic variant 627 NS NS 48 ENSP00000420637.1:p.Gln847Ter ENST00000495273.5:c.2539C>T 3:g.78651897G>A FOXN2_ENST00000616844 ENST00000616844.1 1023 5281 OSCC-GB_01060111 2341032 2206015 upper_aerodigestive_tract mouth NS NS carcinoma NS NS NS y COSV61318733 COSM4882732 167069411 c.9C>A p.C3* Substitution - Nonsense 38 2:48346494-48346494 + - PATHOGENIC .9107 Confirmed somatic variant 539 NS primary 60 ENSP00000484534.1:p.Cys3Ter ENST00000616844.1:c.9C>A 2:g.48346494C>A FOXN2_ENST00000616844 ENST00000616844.1 1023 5281 TCGA-AZ-4315-01 1651162 1565949 large_intestine caecum NS NS carcinoma adenocarcinoma NS NS y COSV61317768 COSM221947 167069996 c.208C>T p.R70* Substitution - Nonsense 38 2:48346695-48346695 + - PATHOGENIC .85147 Confirmed somatic variant 376 NS NS 61 ENSP00000484534.1:p.Arg70Ter ENST00000616844.1:c.208C>T 2:g.48346695C>T DNM1_ENST00000393594 ENST00000393594.7 2556 2972 TCGA-AA-3947-01 1651071 1565858 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS y COSV100359524 COSM7545103 119622569 c.2153C>A p.S718* Substitution - Nonsense 38 9:128250191-128250191 + - PATHOGENIC .91753 Confirmed somatic variant 376 NS NS 60 ENSP00000377219.3:p.Ser718Ter ENST00000393594.7:c.2153C>A 9:g.128250191C>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 GCYC_099_T 2747660 2606363 stomach NS NS NS carcinoma NS NS NS y COSV99562836 COSM8599738 111177752 c.3348C>A p.Y1116* Substitution - Nonsense 38 6:152450672-152450672 - - NEUTRAL .17489 Confirmed somatic variant 683 NS primary ENSP00000356222.4:p.Tyr1116Ter ENST00000367253.8:c.3348C>A 6:g.152450672G>T SIMC1_ENST00000332772 ENST00000332772.4 1002 24779 GBNEC_9 2907840 2762023 biliary_tract gallbladder NS NS carcinoma small_cell_carcinoma NS NS y COSV105903421 COSM10024201 105300073 c.724C>T p.Q242* Substitution - Nonsense 38 5:176337131-176337131 + - PATHOGENIC .92944 Variant of unknown origin 33563892 surgery-fixed NS 54 ENSP00000331311.4:p.Gln242Ter ENST00000332772.4:c.724C>T 5:g.176337131C>T DXO_ENST00000375356 ENST00000375356.7 1191 2992 Pat_63_B 2492903 2355517 NS NS NS NS malignant_melanoma NS NS NS y COSV61713668 COSM5870248 112672044 c.834G>A p.W278* Substitution - Nonsense 38 6:31970457-31970457 - - PATHOGENIC .93968 Confirmed somatic variant 24265153 surgery-fixed NS 48 ENSP00000364505.3:p.Trp278Ter ENST00000375356.7:c.834G>A 6:g.31970457C>T GATA3 ENST00000379328.8 1335 4172 P-0014463-T01-IM6 2830563 2686378 breast NS NS NS carcinoma ductal_carcinoma NS NS n COSV104663811 COSM9359817 116244144 c.1078G>T p.E360* Substitution - Nonsense 38 10:8073766-8073766 + - PATHOGENIC .93906 Confirmed somatic variant 30205045 surgery-fixed primary 43 ENSP00000368632.3:p.Glu360Ter ENST00000379328.8:c.1078G>T 10:g.8073766G>T GATA3 ENST00000379328.8 1335 4172 ATL121 2488748 2351397 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm adult_T_cell_lymphoma-leukaemia NS NS n COSV60515587 COSM5703720 116232250 c.189C>G p.Y63* Substitution - Nonsense 38 10:8055844-8055844 + - PATHOGENIC .94214 Confirmed somatic variant 26437031 NS NS ENSP00000368632.3:p.Tyr63Ter ENST00000379328.8:c.189C>G 10:g.8055844C>G SIDT1 ENST00000393830.4 2499 25967 CSCC-6-T 2292459 2158523 skin head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV53501514 COSM4496342 120357019 c.472C>T p.Q158* Substitution - Nonsense het 38 3:113567667-113567667 + - NEUTRAL .27088 Confirmed somatic variant 25303977 surgery fresh/frozen primary 64 ENSP00000377416.4:p.Gln158Ter ENST00000393830.4:c.472C>T 3:g.113567667C>T MYB_ENST00000525369 ENST00000525369.5 1668 7545 TCGA-B5-A1MR-01 2198376 2066654 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV100215152 COSM8919528 147359070 c.1177G>T p.E393* Substitution - Nonsense 38 6:135200170-135200170 + - PATHOGENIC .99215 Confirmed somatic variant 419 NS NS 65 ENSP00000435938.1:p.Glu393Ter ENST00000525369.5:c.1177G>T 6:g.135200170G>T SIMC1_ENST00000332772 ENST00000332772.4 1002 24779 TCGA-AX-A05Z-01 1783365 1687364 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV57900540 COSM1065989 105298675 c.499G>T p.E167* Substitution - Nonsense het 38 5:176336721-176336721 + - PATHOGENIC .94534 Variant of unknown origin 419 fresh/frozen - NOS primary 37 ENSP00000331311.4:p.Glu167Ter ENST00000332772.4:c.499G>T 5:g.176336721G>T DXO_ENST00000375356 ENST00000375356.7 1191 2992 EXTERN_MELA_20140526_073 2839336 2695102 skin trunk NS NS malignant_melanoma NS NS NS y COSV104642378 COSM9441784 112672337 c.1065_1066delinsAA p.W355_E356delins* Substitution - Nonsense 38 6:31970002-31970003 - - Confirmed somatic variant 28467829 surgery fresh/frozen primary ENSP00000364505.3:p.Trp355_Glu356delinsTer ENST00000375356.7:c.1065_1066delinsAA 6:g.31970002_31970003delinsTT ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-AP-A0LM-01 1783352 1687351 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV101459531 COSM9022989 138600551 c.1393C>T p.R465* Substitution - Nonsense 38 3:78670143-78670143 - - PATHOGENIC .95351 Confirmed somatic variant 419 fresh/frozen - NOS primary 33 ENSP00000420637.1:p.Arg465Ter ENST00000495273.5:c.1393C>T 3:g.78670143G>A CHAC1_ENST00000617768 ENST00000617768.4 795 28680 2834138 2834138 2689922 skin mucosal female_genital_tract_(site_indeterminate) NS malignant_melanoma NS NS NS y COSV104715563 COSM9340649 169700126 c.391G>T p.E131* Substitution - Nonsense 38 15:40954261-40954261 + - PATHOGENIC .90998 Variant of unknown origin 28296713 surgery - NOS primary 76 ENSP00000484644.1:p.Glu131Ter ENST00000617768.4:c.391G>T 15:g.40954261G>T PFN2_ENST00000461930 ENST00000461930.1 138 8882 TCGA-AX-A2IO-01 2198476 2066754 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV99526045 COSM8873911 133149786 c.121C>T p.Q41* Substitution - Nonsense 38 3:149970736-149970736 - - NEUTRAL .37592 Confirmed somatic variant 419 NS NS 83 ENSP00000417912.1:p.Gln41Ter ENST00000461930.1:c.121C>T 3:g.149970736G>A GATA3 ENST00000379328.8 1335 4172 ATL304 2488901 2351550 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm adult_T_cell_lymphoma-leukaemia NS NS n COSV60520004 COSM5703721 116233105 c.192C>G p.Y64* Substitution - Nonsense 38 10:8055847-8055847 + - PATHOGENIC .93684 Confirmed somatic variant 26437031 NS NS ENSP00000368632.3:p.Tyr64Ter ENST00000379328.8:c.192C>G 10:g.8055847C>G GATA3 ENST00000379328.8 1335 4172 PD9761a 1660123 1574417 breast NS NS NS carcinoma ductal_carcinoma NS NS y COSV60522978 COSM5752738 116237714 c.1038C>A p.Y346* Substitution - Nonsense 38 10:8069586-8069586 + - PATHOGENIC .87818 Confirmed somatic variant 652 NS primary 67 ENSP00000368632.3:p.Tyr346Ter ENST00000379328.8:c.1038C>A 10:g.8069586C>A GATA3 ENST00000379328.8 1335 4172 PD9761a 1660123 1574417 breast NS NS NS carcinoma ductal_carcinoma NS NS y COSV60522978 COSM5752738 116237714 c.1038C>A p.Y346* Substitution - Nonsense 38 10:8069586-8069586 + - PATHOGENIC .87818 Confirmed somatic variant 27135926 NS primary 67 ENSP00000368632.3:p.Tyr346Ter ENST00000379328.8:c.1038C>A 10:g.8069586C>A GATA3 ENST00000379328.8 1335 4172 P-0009828-T02-IM5 2725665 2584486 breast NS NS NS carcinoma ductal_carcinoma NS NS n COSV60515523 COSM41680 116232157 c.1099C>T p.R367* Substitution - Nonsense het 38 10:8073787-8073787 + - PATHOGENIC .75574 Confirmed somatic variant 28481359 surgery-fixed metastasis ENSP00000368632.3:p.Arg367Ter ENST00000379328.8:c.1099C>T 10:g.8073787C>T DNM1_ENST00000393594 ENST00000393594.7 2556 2972 TCGA-EE-A2A6-06 2121653 1995889 skin NS NS NS malignant_melanoma NS NS NS y COSV57852347 COSM3654566 119625863 c.1048C>T p.Q350* Substitution - Nonsense 38 9:128222516-128222516 + - PATHOGENIC .98145 Confirmed somatic variant 540 NS NS 43 ENSP00000377219.3:p.Gln350Ter ENST00000393594.7:c.1048C>T 9:g.128222516C>T DNM1_ENST00000393594 ENST00000393594.7 2556 2972 TCGA-E6-A2P9-01 2198378 2066656 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV100359611 COSM8983298 119619569 c.1342C>T p.Q448* Substitution - Nonsense 38 9:128234027-128234027 + - PATHOGENIC .84703 Confirmed somatic variant 419 NS NS 65 ENSP00000377219.3:p.Gln448Ter ENST00000393594.7:c.1342C>T 9:g.128234027C>T MYB_ENST00000525369 ENST00000525369.5 1668 7545 3101B7_035_T 2390296 2253128 liver NS NS NS carcinoma hepatocellular_carcinoma NS NS y COSV57199026 COSM5041525 147357005 c.794T>G p.L265* Substitution - Nonsense 38 6:135193869-135193869 + - PATHOGENIC .9824 Confirmed somatic variant 25159915 NS NS ENSP00000435938.1:p.Leu265Ter ENST00000525369.5:c.794T>G 6:g.135193869T>G PBX1_ENST00000560641 ENST00000560641.5 978 8632 TCGA-MP-A4TF-01 2194749 2063027 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV100522964 COSM7732642 159987187 c.190G>T p.E64* Substitution - Nonsense 38 1:164792733-164792733 + - PATHOGENIC .99088 Confirmed somatic variant 417 NS NS 58 ENSP00000452727.1:p.Glu64Ter ENST00000560641.5:c.190G>T 1:g.164792733G>T DXO_ENST00000375356 ENST00000375356.7 1191 2992 5-VS022-T1 2869842 2724839 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV105225218 COSM9713624 112672359 c.271C>T p.R91* Substitution - Nonsense 38 6:31971405-31971405 - - PATHOGENIC .85404 Confirmed somatic variant 26950094 surgery fresh/frozen NS 63 ENSP00000364505.3:p.Arg91Ter ENST00000375356.7:c.271C>T 6:g.31971405G>A DXO_ENST00000375356 ENST00000375356.7 1191 2992 TCGA-XF-A9T0-01 2339528 2204511 urinary_tract bladder NS NS carcinoma NS NS NS y COSV100514804 COSM7657415 112672837 c.496G>T p.E166* Substitution - Nonsense 38 6:31971008-31971008 - - PATHOGENIC .89361 Confirmed somatic variant 413 NS primary 68 ENSP00000364505.3:p.Glu166Ter ENST00000375356.7:c.496G>T 6:g.31971008C>A GATA3 ENST00000379328.8 1335 4172 MBC_58 2662762 2522886 breast NS NS NS carcinoma ER-PR-positive_carcinoma NS NS y COSV60520870 COSM6569613 116232178 c.1087C>T p.Q363* Substitution - Nonsense 38 10:8073775-8073775 + - PATHOGENIC .90764 Confirmed somatic variant 28027327 fresh/frozen - NOS NS ENSP00000368632.3:p.Gln363Ter ENST00000379328.8:c.1087C>T 10:g.8073775C>T GATA3 ENST00000379328.8 1335 4172 P-0002417-T02-IM5 2719505 2578326 NS NS NS NS carcinoma of_unknown_primary NS NS n COSV60515523 COSM41680 116232157 c.1099C>T p.R367* Substitution - Nonsense het 38 10:8073787-8073787 + - PATHOGENIC .75574 Confirmed somatic variant 28481359 surgery-fixed metastasis ENSP00000368632.3:p.Arg367Ter ENST00000379328.8:c.1099C>T 10:g.8073787C>T MBNL1_ENST00000485509 ENST00000485509.5 1023 6923 HN_62854 1560573 1482023 upper_aerodigestive_tract mouth NS NS carcinoma squamous_cell_carcinoma NS NS y COSV56830285 COSM126798 137659835 c.386C>G p.S129* Substitution - Nonsense 38 3:152432757-152432757 + - PATHOGENIC .9841 Variant of unknown origin 21798893 surgery fresh/frozen primary ENSP00000418876.1:p.Ser129Ter ENST00000485509.5:c.386C>G 3:g.152432757C>G DNM1_ENST00000393594 ENST00000393594.7 2556 2972 MBC_45 2662748 2522872 breast NS NS NS carcinoma ER-PR-positive_carcinoma NS NS y COSV57849807 COSM3326521 119619786 c.175C>T p.R59* Substitution - Nonsense 38 9:128218244-128218244 + - PATHOGENIC .96782 Confirmed somatic variant 28027327 fresh/frozen - NOS NS ENSP00000377219.3:p.Arg59Ter ENST00000393594.7:c.175C>T 9:g.128218244C>T MYB_ENST00000525369 ENST00000525369.5 1668 7545 2292384 2292384 2158448 haematopoietic_and_lymphoid_tissue central_nervous_system NS NS lymphoid_neoplasm primary_central_nervous_system_lymphoma NS NS y COSV57197195 COSM4610361 147357519 c.345G>A p.W115* Substitution - Nonsense 38 6:135190165-135190165 + - PATHOGENIC .99471 Confirmed somatic variant 24970810 surgery fresh/frozen NS ENSP00000435938.1:p.Trp115Ter ENST00000525369.5:c.345G>A 6:g.135190165G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-VS-A953-01 2386193 2249025 cervix NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99567808 COSM7717582 111183170 c.2401G>T p.E801* Substitution - Nonsense 38 6:152458924-152458924 - - PATHOGENIC .92002 Confirmed somatic variant 415 NS primary 63 ENSP00000356222.4:p.Glu801Ter ENST00000367253.8:c.2401G>T 6:g.152458924C>A ACIN1 ENST00000262710.5 4026 17066 TCGA-60-2722-01 1782304 1686303 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV52973529 COSM697479 101546816 c.748G>T p.E250* Substitution - Nonsense 38 14:23080761-23080761 - - PATHOGENIC .88231 Variant of unknown origin 418 fresh/frozen - NOS primary 66 ENSP00000262710.1:p.Glu250Ter ENST00000262710.5:c.748G>T 14:g.23080761C>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-44-A4SS-01 2194874 2063152 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV101458354 COSM7762865 138600934 c.625G>T p.E209* Substitution - Nonsense 38 3:78717799-78717799 - - PATHOGENIC .98758 Confirmed somatic variant 417 NS NS 73 ENSP00000420637.1:p.Glu209Ter ENST00000495273.5:c.625G>T 3:g.78717799C>A CHAC1_ENST00000617768 ENST00000617768.4 795 28680 TCGA-EE-A2MR-06 2121688 1995924 skin NS NS NS malignant_melanoma NS NS NS y COSV71436025 COSM3500991 169701178 c.582C>A p.Y194* Substitution - Nonsense 38 15:40955561-40955561 + - PATHOGENIC .9033 Confirmed somatic variant 540 NS NS 61 ENSP00000484644.1:p.Tyr194Ter ENST00000617768.4:c.582C>A 15:g.40955561C>A CHAC1_ENST00000617768 ENST00000617768.4 795 28680 OSCC-GB_00930111 2340958 2205941 upper_aerodigestive_tract mouth NS NS carcinoma NS NS NS y COSV71435943 COSM4888221 169700170 c.13C>T p.Q5* Substitution - Nonsense 38 15:40953470-40953470 + - PATHOGENIC .83632 Confirmed somatic variant 539 NS primary 32 ENSP00000484644.1:p.Gln5Ter ENST00000617768.4:c.13C>T 15:g.40953470C>T ZNF677 ENST00000598513.5 1755 28730 TCGA-55-6969-01 1914000 1802282 lung right_upper_lobe NS NS carcinoma adenocarcinoma NS NS y COSV61719935 COSM6152141 167371603 c.85C>T p.Q29* Substitution - Nonsense 38 19:53243828-53243828 - - .66068 Variant of unknown origin 417 fresh/frozen - NOS primary 52 ENSP00000469391.1:p.Gln29Ter ENST00000598513.5:c.85C>T 19:g.53243828G>A ZNF677 ENST00000598513.5 1755 28730 H2030 2776257 2634393 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV61720577 COSM2928491 167371500 c.223G>T p.E75* Substitution - Nonsense 38 19:53238504-53238504 - - NEUTRAL .13556 Variant of unknown origin 29681454 NS NS ENSP00000469391.1:p.Glu75Ter ENST00000598513.5:c.223G>T 19:g.53238504C>A ZNF677 ENST00000598513.5 1755 28730 TCGA-55-7728-01 1914024 1802306 lung right_upper_lobe NS NS carcinoma adenocarcinoma NS NS y COSV61721476 COSM6152148 167371819 c.1424G>A p.W475* Substitution - Nonsense 38 19:53237303-53237303 - - NEUTRAL .00034 Variant of unknown origin 417 fresh/frozen - NOS primary 64 ENSP00000469391.1:p.Trp475Ter ENST00000598513.5:c.1424G>A 19:g.53237303C>T ZNF677 ENST00000598513.5 1755 28730 H2110 2776262 2634398 lung NS NS NS carcinoma non_small_cell_carcinoma NS NS y COSV61720271 COSM2928469 167374799 c.1279G>T p.G427* Substitution - Nonsense 38 19:53237448-53237448 - - NEUTRAL .03047 Variant of unknown origin 29681454 NS NS ENSP00000469391.1:p.Gly427Ter ENST00000598513.5:c.1279G>T 19:g.53237448C>A ZNF677 ENST00000598513.5 1755 28730 H2286 2776348 2634484 lung NS NS NS carcinoma non_small_cell_carcinoma NS NS y COSV99077683 COSM7399520 167373918 c.1471G>T p.E491* Substitution - Nonsense 38 19:53237256-53237256 - - NEUTRAL .00205 Variant of unknown origin 29681454 NS NS 57 ENSP00000469391.1:p.Glu491Ter ENST00000598513.5:c.1471G>T 19:g.53237256C>A GATA3 ENST00000379328.8 1335 4172 ATL397 2488965 2351614 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm adult_T_cell_lymphoma-leukaemia NS NS n COSV60515079 COSM5703730 116233427 c.288G>A p.W96* Substitution - Nonsense 38 10:8058351-8058351 + - PATHOGENIC .99198 Confirmed somatic variant 26437031 NS NS ENSP00000368632.3:p.Trp96Ter ENST00000379328.8:c.288G>A 10:g.8058351G>A GATA3 ENST00000379328.8 1335 4172 P-0002574-T01-IM3 2829491 2685306 breast NS NS NS carcinoma ductal_carcinoma NS NS n COSV60517689 COSM6923172 116231853 c.1172C>A p.S391* Substitution - Nonsense 38 10:8073860-8073860 + - PATHOGENIC .85297 Confirmed somatic variant 30205045 surgery-fixed metastasis 59 ENSP00000368632.3:p.Ser391Ter ENST00000379328.8:c.1172C>A 10:g.8073860C>A MYB_ENST00000525369 ENST00000525369.5 1668 7545 5-VS077-T1 2869912 2724909 skin NS NS NS carcinoma basal_cell_carcinoma NS NS n COSV105151713 COSM9805937 147357635 c.709C>T p.Q237* Substitution - Nonsense 38 6:135192505-135192505 + - PATHOGENIC .93796 Confirmed somatic variant 26950094 surgery - NOS NS 85 ENSP00000435938.1:p.Gln237Ter ENST00000525369.5:c.709C>T 6:g.135192505C>T ACIN1 ENST00000262710.5 4026 17066 TCGA-AX-A0J1-01 1783377 1687376 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV52981646 COSM954620 101550430 c.3754C>T p.R1252* Substitution - Nonsense het 38 14:23059420-23059420 - - .6242 Variant of unknown origin 419 fresh/frozen - NOS primary 80 ENSP00000262710.1:p.Arg1252Ter ENST00000262710.5:c.3754C>T 14:g.23059420G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-BH-A0B6-01 2187798 2056076 breast NS NS NS carcinoma NS NS NS y COSV71396939 COSM3824658 138567306 c.2616G>A p.W872* Substitution - Nonsense 38 3:78651820-78651820 - - PATHOGENIC .9824 Confirmed somatic variant 414 NS NS 47 ENSP00000420637.1:p.Trp872Ter ENST00000495273.5:c.2616G>A 3:g.78651820C>T CHAC1_ENST00000617768 ENST00000617768.4 795 28680 10 2370203 2233001 kidney NS NS NS carcinoma chromophobe_renal_cell_carcinoma NS NS y COSV71435982 COSM5012855 169700355 c.466C>T p.R156* Substitution - Nonsense 38 15:40955445-40955445 + - PATHOGENIC .8984 Confirmed somatic variant 25401301 surgery fresh/frozen primary 46 ENSP00000484644.1:p.Arg156Ter ENST00000617768.4:c.466C>T 15:g.40955445C>T CHAC1_ENST00000617768 ENST00000617768.4 795 28680 SWE-48 1862734 1753625 prostate NS NS NS adenoma NS NS NS y COSV71436230 COSM1180147 169701278 c.405G>A p.W135* Substitution - Nonsense 38 15:40955384-40955384 + - PATHOGENIC .99123 Confirmed somatic variant 23265383 NS NS ENSP00000484644.1:p.Trp135Ter ENST00000617768.4:c.405G>A 15:g.40955384G>A CHAC1_ENST00000617768 ENST00000617768.4 795 28680 TCGA-D3-A1Q5-06 2121501 1995737 skin NS NS NS malignant_melanoma NS NS NS y COSV71436270 COSM3500989 169701189 c.532C>T p.Q178* Substitution - Nonsense 38 15:40955511-40955511 + - .54747 Confirmed somatic variant 540 NS NS 60 ENSP00000484644.1:p.Gln178Ter ENST00000617768.4:c.532C>T 15:g.40955511C>T CHAC1_ENST00000617768 ENST00000617768.4 795 28680 EOSRC-IN-2575 2902095 2756333 large_intestine rectum NS NS carcinoma adenocarcinoma NS NS y COSV105939956 COSM9978273 169700475 c.417C>A p.Y139* Substitution - Nonsense 38 15:40955396-40955396 + - PATHOGENIC .91038 Confirmed somatic variant 33262464 surgery - NOS NS 45 ENSP00000484644.1:p.Tyr139Ter ENST00000617768.4:c.417C>A 15:g.40955396C>A ZNF677 ENST00000598513.5 1755 28730 065T 2067124 1946921 liver NS NS NS carcinoma hepatocellular_carcinoma NS NS y COSV61719182 COSM1730314 167374023 c.844C>T p.Q282* Substitution - Nonsense 38 19:53237883-53237883 - - NEUTRAL .08876 Confirmed somatic variant 23788652 surgery - NOS primary ENSP00000469391.1:p.Gln282Ter ENST00000598513.5:c.844C>T 19:g.53237883G>A GATA3 ENST00000379328.8 1335 4172 P-0003950-T01-IM5 2786930 2644353 breast NS NS NS carcinoma ER-positive_carcinoma NS NS n COSV60515523 COSM41680 116232157 c.1099C>T p.R367* Substitution - Nonsense 38 10:8073787-8073787 + - PATHOGENIC .75574 Confirmed somatic variant 30537512 surgery-fixed NS ENSP00000368632.3:p.Arg367Ter ENST00000379328.8:c.1099C>T 10:g.8073787C>T ACIN1 ENST00000262710.5 4026 17066 TCGA-60-2720-01 1782270 1686269 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV52983117 COSM697478 101556481 c.344C>G p.S115* Substitution - Nonsense 38 14:23093513-23093513 - - PATHOGENIC .9888 Variant of unknown origin 418 fresh/frozen - NOS primary 60 ENSP00000262710.1:p.Ser115Ter ENST00000262710.5:c.344C>G 14:g.23093513G>C ACIN1 ENST00000262710.5 4026 17066 TCGA-A3-3374-01 1913331 1801613 kidney NS NS NS carcinoma clear_cell_renal_cell_carcinoma NS NS y COSV52973174 COSM1493202 101555839 c.2806G>T p.E936* Substitution - Nonsense 38 14:23063541-23063541 - - PATHOGENIC .96445 Variant of unknown origin 416 fresh/frozen - NOS primary 51 ENSP00000262710.1:p.Glu936Ter ENST00000262710.5:c.2806G>T 14:g.23063541C>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-AP-A1E0-01 2198263 2066541 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV71392075 COSM1048554 138559994 c.4735C>T p.R1579* Substitution - Nonsense 38 3:78600184-78600184 - - PATHOGENIC .96046 Confirmed somatic variant 419 NS NS 40 ENSP00000420637.1:p.Arg1579Ter ENST00000495273.5:c.4735C>T 3:g.78600184G>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 TCGA-33-4566-01 1781104 1685103 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV56001950 COSM700454 157528202 c.3856G>T p.E1286* Substitution - Nonsense 38 15:44598667-44598667 - - PATHOGENIC .9789 Variant of unknown origin 418 fresh/frozen - NOS primary 40 ENSP00000453599.1:p.Glu1286Ter ENST00000558319.5:c.3856G>T 15:g.44598667C>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 H596 2776285 2634421 lung NS NS NS carcinoma mixed_adenosquamous_carcinoma NS NS y COSV56004336 COSM2189137 157523503 c.461T>A p.L154* Substitution - Nonsense 38 15:44659285-44659285 - - PATHOGENIC .90586 Variant of unknown origin 29681454 NS NS 73 ENSP00000453599.1:p.Leu154Ter ENST00000558319.5:c.461T>A 15:g.44659285A>T ZNF677 ENST00000598513.5 1755 28730 PTC_285 2549863 2411318 thyroid NS NS NS carcinoma NS NS NS y COSV61719683 COSM5958738 167372515 c.957T>A p.Y319* Substitution - Nonsense 38 19:53237770-53237770 - - NEUTRAL .00945 Confirmed somatic variant 589 NS primary 74 ENSP00000469391.1:p.Tyr319Ter ENST00000598513.5:c.957T>A 19:g.53237770A>T ZNF677 ENST00000598513.5 1755 28730 S00832_2 2481589 2344334 lung NS NS NS carcinoma small_cell_carcinoma NS NS y COSV61720167 COSM5701623 167371496 c.759_760delinsAT p.Y253_G254delins* Substitution - Nonsense 38 19:53237967-53237968 - - Confirmed somatic variant 26168399 surgery fresh/frozen primary 70 ENSP00000469391.1:p.Tyr253_Gly254delinsTer ENST00000598513.5:c.759_760delinsAT 19:g.53237967_53237968delinsAT SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 T1191 2658704 2518863 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV54943291 COSM6794009 111196851 c.3154G>T p.E1052* Substitution - Nonsense 38 6:152451079-152451079 - - PATHOGENIC .9527 Confirmed somatic variant 27149842 NS NS 76.66 ENSP00000356222.4:p.Glu1052Ter ENST00000367253.8:c.3154G>T 6:g.152451079C>A SIMC1_ENST00000332772 ENST00000332772.4 1002 24779 TCGA-VQ-A8P2-01 2339964 2204947 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV53799479 COSM3340262 105298021 c.766C>T p.R256* Substitution - Nonsense 38 5:176345209-176345209 + - PATHOGENIC .78586 Confirmed somatic variant 541 NS primary 68 ENSP00000331311.4:p.Arg256Ter ENST00000332772.4:c.766C>T 5:g.176345209C>T SIMC1_ENST00000332772 ENST00000332772.4 1002 24779 W28T 2745052 2603755 thyroid NS NS NS carcinoma NS NS NS y COSV57902295 COSM6366185 105298319 c.199C>T p.Q67* Substitution - Nonsense 38 5:176313829-176313829 + - .68805 Confirmed somatic variant 676 NS primary 32 ENSP00000331311.4:p.Gln67Ter ENST00000332772.4:c.199C>T 5:g.176313829C>T ACIN1 ENST00000262710.5 4026 17066 SJHYPO044 2301068 2166349 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm acute_lymphoblastic_leukaemia NS NS y COSV52974471 COSM4775764 101547560 c.793C>T p.R265* Substitution - Nonsense 38 14:23080716-23080716 - - PATHOGENIC .79342 Reported in another cancer sample as somatic 638 NS NS ENSP00000262710.1:p.Arg265Ter ENST00000262710.5:c.793C>T 14:g.23080716G>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 ESO-1163 1890890 1780259 oesophagus NS NS NS carcinoma adenocarcinoma NS NS y COSV56000716 COSM1266622 157524072 c.1730T>G p.L577* Substitution - Nonsense 38 15:44633510-44633510 - - PATHOGENIC .94791 Variant of unknown origin 23525077 surgery fresh/frozen primary 76 ENSP00000453599.1:p.Leu577Ter ENST00000558319.5:c.1730T>G 15:g.44633510A>C SPG11_ENST00000558319 ENST00000558319.5 6240 11226 OV207 1716842 1624327 ovary NS NS NS carcinoma serous_carcinoma NS NS y COSV56000933 COSM252848 157534611 c.3694C>T p.Q1232* Substitution - Nonsense 38 15:44598829-44598829 - - PATHOGENIC .9704 Variant of unknown origin 22102435 surgery fresh/frozen NS ENSP00000453599.1:p.Gln1232Ter ENST00000558319.5:c.3694C>T 15:g.44598829G>A ZNF677 ENST00000598513.5 1755 28730 TCGA-Q1-A73P-01 2262726 2129710 cervix NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV61720258 COSM4825872 167373178 c.1742C>G p.S581* Substitution - Nonsense 38 19:53236985-53236985 - - NEUTRAL .00082 Confirmed somatic variant 415 NS primary 45 ENSP00000469391.1:p.Ser581Ter ENST00000598513.5:c.1742C>G 19:g.53236985G>C GATA3 ENST00000379328.8 1335 4172 ATL059 2488686 2351335 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm adult_T_cell_lymphoma-leukaemia NS NS y COSV60515587 COSM5703720 116232250 c.189C>G p.Y63* Substitution - Nonsense 38 10:8055844-8055844 + - PATHOGENIC .94214 Confirmed somatic variant 26437031 NS NS 86 ENSP00000368632.3:p.Tyr63Ter ENST00000379328.8:c.189C>G 10:g.8055844C>G SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 T3174 2296192 2161795 large_intestine colon transverse NS carcinoma adenocarcinoma NS NS y COSV54899826 COSM1441677 111173688 c.706C>T p.R236* Substitution - Nonsense 38 6:152505273-152505273 - - PATHOGENIC .83123 Confirmed somatic variant 25344691 NS NS 74.41 ENSP00000356222.4:p.Arg236Ter ENST00000367253.8:c.706C>T 6:g.152505273G>A ACIN1 ENST00000262710.5 4026 17066 H1993 2776254 2634390 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV52983766 COSM2031059 101550589 c.3739G>T p.E1247* Substitution - Nonsense 38 14:23059435-23059435 - - PATHOGENIC .84196 Confirmed somatic variant 29681454 NS NS 47 ENSP00000262710.1:p.Glu1247Ter ENST00000262710.5:c.3739G>T 14:g.23059435C>A ACIN1 ENST00000262710.5 4026 17066 TCGA-D5-6531-01 1651249 1566036 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS y COSV52973718 COSM3690026 101550356 c.1186C>T p.R396* Substitution - Nonsense 38 14:23080323-23080323 - - PATHOGENIC .75853 Confirmed somatic variant 376 NS NS 75 ENSP00000262710.1:p.Arg396Ter ENST00000262710.5:c.1186C>T 14:g.23080323G>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 Patient1_Tu 1889518 1778958 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm plasma_cell_myeloma NS NS y COSV55990831 COSM1235608 157524301 c.4264C>T p.Q1422* Substitution - Nonsense 38 15:44596253-44596253 - - .60906 Variant of unknown origin 23396385 blood-bone marrow primary ENSP00000453599.1:p.Gln1422Ter ENST00000558319.5:c.4264C>T 15:g.44596253G>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 2834132 2834132 2689916 skin mucosal anorectal NS malignant_melanoma NS NS NS y COSV104561636 COSM9334745 157531581 c.3307G>T p.E1103* Substitution - Nonsense 38 15:44608590-44608590 - - PATHOGENIC .99413 Variant of unknown origin 28296713 surgery - NOS primary 55 ENSP00000453599.1:p.Glu1103Ter ENST00000558319.5:c.3307G>T 15:g.44608590C>A ZNF677 ENST00000598513.5 1755 28730 TCGA-CA-6718-01 1651189 1565976 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS y COSV61719610 COSM1396074 167374094 c.1615G>T p.E539* Substitution - Nonsense 38 19:53237112-53237112 - - NEUTRAL .00276 Confirmed somatic variant 376 NS NS 46 ENSP00000469391.1:p.Glu539Ter ENST00000598513.5:c.1615G>T 19:g.53237112C>A ZNF677 ENST00000598513.5 1755 28730 285C 2789288 2646511 thyroid NS NS NS carcinoma NS NS NS y COSV61719683 COSM5958738 167372515 c.957T>A p.Y319* Substitution - Nonsense 38 19:53237770-53237770 - - NEUTRAL .00945 Confirmed somatic variant 589 NS primary 74 ENSP00000469391.1:p.Tyr319Ter ENST00000598513.5:c.957T>A 19:g.53237770A>T GATA3 ENST00000379328.8 1335 4172 P-0007362-T01-IM5 2723700 2582521 breast NS NS NS carcinoma ductal_carcinoma NS NS n COSV60515523 COSM41680 116232157 c.1099C>T p.R367* Substitution - Nonsense het 38 10:8073787-8073787 + - PATHOGENIC .75574 Confirmed somatic variant 28481359 surgery-fixed primary ENSP00000368632.3:p.Arg367Ter ENST00000379328.8:c.1099C>T 10:g.8073787C>T MBNL1_ENST00000485509 ENST00000485509.5 1023 6923 TCGA-Q1-A73P-01 2262726 2129710 cervix NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV56828371 COSM4825844 137654047 c.61G>T p.E21* Substitution - Nonsense 38 3:152300254-152300254 + - PATHOGENIC .93744 Confirmed somatic variant 415 NS primary 45 ENSP00000418876.1:p.Glu21Ter ENST00000485509.5:c.61G>T 3:g.152300254G>T MYB_ENST00000525369 ENST00000525369.5 1668 7545 CG50 2816752 2673103 large_intestine colon sigmoid NS carcinoma adenocarcinoma NS NS y COSV100215152 COSM8919528 147359070 c.1177G>T p.E393* Substitution - Nonsense 38 6:135200170-135200170 + - PATHOGENIC .99215 Confirmed somatic variant 29937994 surgery fresh/frozen NS 59 ENSP00000435938.1:p.Glu393Ter ENST00000525369.5:c.1177G>T 6:g.135200170G>T MYB_ENST00000525369 ENST00000525369.5 1668 7545 PD4127a 1331081 1241555 breast NS NS NS carcinoma NS NS NS y COSV57202350 COSM162699 147361864 c.601G>T p.E201* Substitution - Nonsense 38 6:135192397-135192397 + - PATHOGENIC .88888 Confirmed somatic variant 22722201 385 NS primary ENSP00000435938.1:p.Glu201Ter ENST00000525369.5:c.601G>T 6:g.135192397G>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-DM-A0XF-01 1651275 1566062 large_intestine caecum NS NS carcinoma adenocarcinoma NS NS y COSV54899826 COSM1441677 111173688 c.706C>T p.R236* Substitution - Nonsense 38 6:152505273-152505273 - - PATHOGENIC .83123 Confirmed somatic variant 376 NS NS 67 ENSP00000356222.4:p.Arg236Ter ENST00000367253.8:c.706C>T 6:g.152505273G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-A6-2677-01 1650924 1565711 large_intestine caecum NS NS carcinoma adenocarcinoma NS NS y COSV99555915 COSM7609500 111190256 c.1108C>T p.Q370* Substitution - Nonsense 38 6:152484912-152484912 - - PATHOGENIC .95393 Confirmed somatic variant 376 NS NS 68 ENSP00000356222.4:p.Gln370Ter ENST00000367253.8:c.1108C>T 6:g.152484912G>A SIMC1_ENST00000332772 ENST00000332772.4 1002 24779 Thyroid-CN-WZ042T 2635103 2495499 thyroid NS NS NS carcinoma NS NS NS y COSV57902295 COSM6366185 105298319 c.199C>T p.Q67* Substitution - Nonsense 38 5:176313829-176313829 + - .68805 Confirmed somatic variant 676 NS primary 32 ENSP00000331311.4:p.Gln67Ter ENST00000332772.4:c.199C>T 5:g.176313829C>T GATA3 ENST00000379328.8 1335 4172 ATL313 2488910 2351559 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm adult_T_cell_lymphoma-leukaemia NS NS n COSV60521694 COSM5703718 116241653 c.166C>T p.Q56* Substitution - Nonsense 38 10:8055821-8055821 + - PATHOGENIC .98125 Confirmed somatic variant 26437031 NS NS ENSP00000368632.3:p.Gln56Ter ENST00000379328.8:c.166C>T 10:g.8055821C>T MBNL1_ENST00000485509 ENST00000485509.5 1023 6923 PATYJK 2730644 2589416 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm acute_lymphoblastic_T_cell_leukaemia NS NS y COSV56826566 COSM6999782 137660803 c.145C>T p.R49* Substitution - Nonsense 38 3:152300338-152300338 + - PATHOGENIC .90841 Confirmed somatic variant 28671688 NS primary 12 ENSP00000418876.1:p.Arg49Ter ENST00000485509.5:c.145C>T 3:g.152300338C>T SIDT1 ENST00000393830.4 2499 25967 TCGA-BS-A0V6-01 1783479 1687478 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV53508002 COSM1036513 120357589 c.2356G>T p.E786* Substitution - Nonsense 38 3:113626135-113626135 + - NEUTRAL .41954 Confirmed somatic variant 419 fresh/frozen - NOS primary 55 ENSP00000377416.4:p.Glu786Ter ENST00000393830.4:c.2356G>T 3:g.113626135G>T ACIN1 ENST00000262710.5 4026 17066 TCGA-MX-A5UJ-01 2197956 2066234 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV52976153 COSM6592101 101548919 c.3934C>T p.R1312* Substitution - Nonsense 38 14:23059240-23059240 - - NEUTRAL .45845 Confirmed somatic variant 541 NS NS 86 ENSP00000262710.1:p.Arg1312Ter ENST00000262710.5:c.3934C>T 14:g.23059240G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 METMCC_624 2637731 2498104 skin upper_extremity NS NS carcinoma Merkel_cell_carcinoma NS NS y COSV71393699 COSM4992038 138561674 c.238C>T p.R80* Substitution - Nonsense 38 3:78938745-78938745 - - PATHOGENIC .98091 Confirmed somatic variant 26238782 surgery fresh/frozen metastasis 53 ENSP00000420637.1:p.Arg80Ter ENST00000495273.5:c.238C>T 3:g.78938745G>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 PD42111a 2894820 2749308 skin trunk NS NS malignant_melanoma superficial_spreading NS NS y COSV56003516 COSM164563 157526602 c.2971C>T p.Q991* Substitution - Nonsense 38 15:44615430-44615430 - - PATHOGENIC .89937 Reported in another cancer sample as somatic 33024263 surgery-fixed metastasis 49 ENSP00000453599.1:p.Gln991Ter ENST00000558319.5:c.2971C>T 15:g.44615430G>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 TCGA-AX-A0J0-01 1783376 1687375 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV55996911 COSM258084 157525674 c.3961G>T p.E1321* Substitution - Nonsense het 38 15:44598305-44598305 - - PATHOGENIC .97848 Reported in another cancer sample as somatic 419 fresh/frozen - NOS primary 47 ENSP00000453599.1:p.Glu1321Ter ENST00000558319.5:c.3961G>T 15:g.44598305C>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 TCGA-B5-A0JY-01 1783388 1687387 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV55992337 COSM277458 157523304 c.3940G>T p.E1314* Substitution - Nonsense het 38 15:44598326-44598326 - - PATHOGENIC .97801 Reported in another cancer sample as somatic 419 fresh/frozen - NOS primary 50 ENSP00000453599.1:p.Glu1314Ter ENST00000558319.5:c.3940G>T 15:g.44598326C>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 TCGA-49-6743-01 1780147 1684146 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV55990213 COSM6077471 157527519 c.6079C>T p.Q2027* Substitution - Nonsense 38 15:44573673-44573673 - - PATHOGENIC .89234 Reported in another cancer sample as somatic 417 fresh/frozen - NOS primary 81 ENSP00000453599.1:p.Gln2027Ter ENST00000558319.5:c.6079C>T 15:g.44573673G>A ZNF677 ENST00000598513.5 1755 28730 TCGA-D9-A6EC-06 2262880 2129864 skin NS NS NS malignant_melanoma NS NS NS y COSV61719286 COSM4400311 167371666 c.13C>T p.Q5* Substitution - Nonsense 38 19:53251538-53251538 - - NEUTRAL .0261 Confirmed somatic variant 540 NS NS 56 ENSP00000469391.1:p.Gln5Ter ENST00000598513.5:c.13C>T 19:g.53251538G>A ZNF677 ENST00000598513.5 1755 28730 TCGA-CN-5360-01 2193819 2062097 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV100448242 COSM8373292 167372736 c.1600C>T p.Q534* Substitution - Nonsense 38 19:53237127-53237127 - - NEUTRAL .0027 Confirmed somatic variant 627 NS NS 68 ENSP00000469391.1:p.Gln534Ter ENST00000598513.5:c.1600C>T 19:g.53237127G>A ZNF677 ENST00000598513.5 1755 28730 WGC003590 2785045 2645161 biliary_tract bile_duct NS NS carcinoma adenocarcinoma NS NS y COSV100448290 COSM7423029 167375628 c.113T>A p.L38* Substitution - Nonsense 38 19:53243800-53243800 - - NEUTRAL .1158 Confirmed somatic variant 25526346 surgery fresh/frozen primary 44 ENSP00000469391.1:p.Leu38Ter ENST00000598513.5:c.113T>A 19:g.53243800A>T ZNF677 ENST00000598513.5 1755 28730 EXTERN_MELA_20140526_045 2839349 2695115 skin trunk NS NS malignant_melanoma NS NS NS y COSV104631498 COSM9306321 167375661 c.616C>T p.Q206* Substitution - Nonsense 38 19:53238111-53238111 - - NEUTRAL .17428 Confirmed somatic variant 28467829 surgery fresh/frozen metastasis ENSP00000469391.1:p.Gln206Ter ENST00000598513.5:c.616C>T 19:g.53238111G>A ZNF677 ENST00000598513.5 1755 28730 EXTERN_MELA_20140526_035 2839347 2695113 skin NS NS NS malignant_melanoma NS NS NS y COSV61719822 COSM3538316 167372357 c.928C>T p.Q310* Substitution - Nonsense 38 19:53237799-53237799 - - NEUTRAL .01058 Confirmed somatic variant 28467829 surgery fresh/frozen metastasis ENSP00000469391.1:p.Gln310Ter ENST00000598513.5:c.928C>T 19:g.53237799G>A ZNF677 ENST00000598513.5 1755 28730 SDC16 2564874 2426268 salivary_gland NS NS NS carcinoma salivary_duct_carcinoma NS NS y COSV61720761 COSM5987466 167372067 c.1163C>G p.S388* Substitution - Nonsense 38 19:53237564-53237564 - - NEUTRAL .00242 Confirmed somatic variant 27103403 surgery fresh/frozen recurrent ENSP00000469391.1:p.Ser388Ter ENST00000598513.5:c.1163C>G 19:g.53237564G>C GATA3 ENST00000379328.8 1335 4172 ATL234 2488833 2351482 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm adult_T_cell_lymphoma-leukaemia NS NS n COSV60516443 COSM5703717 116236662 c.123C>G p.Y41* Substitution - Nonsense 38 10:8055778-8055778 + - PATHOGENIC .92866 Confirmed somatic variant 26437031 NS NS ENSP00000368632.3:p.Tyr41Ter ENST00000379328.8:c.123C>G 10:g.8055778C>G MYB_ENST00000525369 ENST00000525369.5 1668 7545 KPOPBR-014-T 2633594 2493990 breast NS NS NS carcinoma NS NS NS y COSV57200674 COSM5963807 147360055 c.526C>T p.R176* Substitution - Nonsense 38 6:135190346-135190346 + - PATHOGENIC .95864 Confirmed somatic variant 669 NS primary 33 ENSP00000435938.1:p.Arg176Ter ENST00000525369.5:c.526C>T 6:g.135190346C>T ARNTL ENST00000403290.5 1881 701 H920 2776291 2634427 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV99055260 COSM7356469 121573588 c.1259G>A p.W420* Substitution - Nonsense 38 11:13375696-13375696 + - PATHOGENIC .98903 Variant of unknown origin 29681454 NS NS 44 ENSP00000384517.1:p.Trp420Ter ENST00000403290.5:c.1259G>A 11:g.13375696G>A ACIN1 ENST00000262710.5 4026 17066 T55 2658295 2518454 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV52980717 COSM4658823 101547371 c.3106G>T p.G1036* Substitution - Nonsense 38 14:23062475-23062475 - - PATHOGENIC .90341 Confirmed somatic variant 27149842 NS NS 62.16 ENSP00000262710.1:p.Gly1036Ter ENST00000262710.5:c.3106G>T 14:g.23062475C>A ACIN1 ENST00000262710.5 4026 17066 IGC-12-1064 2662359 2522483 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV52978177 COSM6521344 101550694 c.829G>T p.E277* Substitution - Nonsense 38 14:23080680-23080680 - - PATHOGENIC .8868 Confirmed somatic variant 27923066 surgery fresh/frozen primary ENSP00000262710.1:p.Glu277Ter ENST00000262710.5:c.829G>T 14:g.23080680C>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 ESCC_46 2479554 2342314 oesophagus NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV55991783 COSM5630500 157522638 c.5225C>G p.S1742* Substitution - Nonsense 38 15:44584455-44584455 - - PATHOGENIC .72248 Confirmed somatic variant 26873401 NS NS 75 ENSP00000453599.1:p.Ser1742Ter ENST00000558319.5:c.5225C>G 15:g.44584455G>C SPG11_ENST00000558319 ENST00000558319.5 6240 11226 TCGA-BR-7722-01 2198037 2066315 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV55991674 COSM4055075 157526952 c.2584C>T p.Q862* Substitution - Nonsense 38 15:44621795-44621795 - - PATHOGENIC .98095 Confirmed somatic variant 541 NS NS 62 ENSP00000453599.1:p.Gln862Ter ENST00000558319.5:c.2584C>T 15:g.44621795G>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 TCGA-QQ-A5VD-01 2270056 2136824 soft_tissue NS NS NS sarcoma NS NS NS y COSV99968154 COSM8446123 157528864 c.1621C>T p.Q541* Substitution - Nonsense 38 15:44633619-44633619 - - PATHOGENIC .91008 Confirmed somatic variant 635 NS NS ENSP00000453599.1:p.Gln541Ter ENST00000558319.5:c.1621C>T 15:g.44633619G>A ZNF677 ENST00000598513.5 1755 28730 METMCC_862 2637735 2498108 skin lower_extremity NS NS carcinoma Merkel_cell_carcinoma NS NS y COSV61720811 COSM6441918 167372973 c.1324C>T p.Q442* Substitution - Nonsense 38 19:53237403-53237403 - - NEUTRAL .00112 Confirmed somatic variant 26238782 surgery fresh/frozen metastasis 66 ENSP00000469391.1:p.Gln442Ter ENST00000598513.5:c.1324C>T 19:g.53237403G>A GATA3 ENST00000379328.8 1335 4172 ATL033 2488661 2351310 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm adult_T_cell_lymphoma-leukaemia NS NS y COSV60515079 COSM5703730 116233427 c.288G>A p.W96* Substitution - Nonsense 38 10:8058351-8058351 + - PATHOGENIC .99198 Confirmed somatic variant 26437031 NS NS 81 ENSP00000368632.3:p.Trp96Ter ENST00000379328.8:c.288G>A 10:g.8058351G>A STH ENST00000537309.1 387 18839 TCGA-CU-A5W6-01 2193262 2061540 urinary_tract bladder NS NS carcinoma NS NS NS y COSV52249441 COSM3518361 154034181 c.121C>T p.Q41* Substitution - Nonsense 38 17:45999400-45999400 + - NEUTRAL .03609 Confirmed somatic variant 413 NS NS 70 ENSP00000443168.1:p.Gln41Ter ENST00000537309.1:c.121C>T 17:g.45999400C>T STH ENST00000537309.1 387 18839 TCGA-EE-A181-06 2121622 1995858 skin NS NS NS malignant_melanoma NS NS NS y COSV52249441 COSM3518361 154034181 c.121C>T p.Q41* Substitution - Nonsense 38 17:45999400-45999400 + - NEUTRAL .03609 Confirmed somatic variant 540 NS NS 82 ENSP00000443168.1:p.Gln41Ter ENST00000537309.1:c.121C>T 17:g.45999400C>T STH ENST00000537309.1 387 18839 TCGA-F5-6702-01 1651635 1566422 large_intestine rectum NS NS carcinoma adenocarcinoma NS NS y COSV52242535 COSM1563801 154034113 c.19C>T p.Q7* Substitution - Nonsense 38 17:45999298-45999298 + - NEUTRAL .00271 Confirmed somatic variant 375 NS primary 71 ENSP00000443168.1:p.Gln7Ter ENST00000537309.1:c.19C>T 17:g.45999298C>T STH ENST00000537309.1 387 18839 IGC-04-1138 2662304 2522428 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV52246453 COSM6556425 154034424 c.7G>T p.E3* Substitution - Nonsense 38 17:45999286-45999286 + - NEUTRAL .01698 Confirmed somatic variant 27923066 surgery fresh/frozen primary ENSP00000443168.1:p.Glu3Ter ENST00000537309.1:c.7G>T 17:g.45999286G>T STH ENST00000537309.1 387 18839 CG05 2816707 2673058 large_intestine rectum NS NS carcinoma adenocarcinoma NS NS y COSV104389015 COSM9256238 154034351 c.379C>T p.Q127* Substitution - Nonsense 38 17:45999658-45999658 + - NEUTRAL .00397 Confirmed somatic variant 29937994 surgery fresh/frozen NS 54 ENSP00000443168.1:p.Gln127Ter ENST00000537309.1:c.379C>T 17:g.45999658C>T ACIN1 ENST00000262710.5 4026 17066 Case_1-Baseline 2730735 2589505 skin NS NS NS malignant_melanoma NS NS NS y COSV52972923 COSM7337652 101548650 c.376C>T p.Q126* Substitution - Nonsense 38 14:23093481-23093481 - - PATHOGENIC .98581 Confirmed somatic variant 27433843 surgery-fixed metastasis 58 ENSP00000262710.1:p.Gln126Ter ENST00000262710.5:c.376C>T 14:g.23093481G>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 2785198 2785198 2642777 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm NK_cell_leukaemia NS NS y COSV99969098 COSM7447929 157523083 c.6082C>T p.Q2028* Substitution - Nonsense 38 15:44573670-44573670 - - PATHOGENIC .92028 Confirmed somatic variant 29674644 blood-bone marrow NS 32 ENSP00000453599.1:p.Gln2028Ter ENST00000558319.5:c.6082C>T 15:g.44573670G>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 TCGA-E6-A1LZ-01 1783542 1687541 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV55990230 COSM962140 157534891 c.1612G>T p.E538* Substitution - Nonsense 38 15:44633628-44633628 - - PATHOGENIC .83202 Confirmed somatic variant 419 fresh/frozen - NOS primary 76 ENSP00000453599.1:p.Glu538Ter ENST00000558319.5:c.1612G>T 15:g.44633628C>A ZNF677 ENST00000598513.5 1755 28730 TCGA-AA-3977-01 1651086 1565873 large_intestine colon sigmoid NS carcinoma adenocarcinoma NS NS y COSV100447763 COSM7557750 167374293 c.355G>T p.G119* Substitution - Nonsense 38 19:53238372-53238372 - - NEUTRAL .02781 Confirmed somatic variant 376 NS NS 65 ENSP00000469391.1:p.Gly119Ter ENST00000598513.5:c.355G>T 19:g.53238372C>A PLD1 ENST00000351298.8 3225 9067 587222 1766748 1671068 large_intestine colon NS NS carcinoma adenocarcinoma NS NS y COSV60565898 COSM1220997 109078877 c.373G>T p.E125* Substitution - Nonsense 38 3:171735553-171735553 - - PATHOGENIC .9671 Variant of unknown origin 22895193 surgery fresh/frozen primary ENSP00000342793.4:p.Glu125Ter ENST00000351298.8:c.373G>T 3:g.171735553C>A PLD1 ENST00000351298.8 3225 9067 ESO-184 1891922 1781291 stomach gastroesophageal_junction NS NS carcinoma adenocarcinoma NS NS y COSV60574144 COSM1262436 109081660 c.186T>A p.Y62* Substitution - Nonsense 38 3:171737634-171737634 - - PATHOGENIC .82171 Variant of unknown origin 23525077 surgery fresh/frozen primary ENSP00000342793.4:p.Tyr62Ter ENST00000351298.8:c.186T>A 3:g.171737634A>T PLD1 ENST00000351298.8 3225 9067 UD-SCC-2 2296311 2161914 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV60572726 COSM4320732 109079554 c.1918G>T p.E640* Substitution - Nonsense 38 3:171677644-171677644 - - PATHOGENIC .97427 Variant of unknown origin 25275298 cell-line NS 58 ENSP00000342793.4:p.Glu640Ter ENST00000351298.8:c.1918G>T 3:g.171677644C>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 S05-46290-TP 2366571 2229454 skin NS NS NS carcinoma squamous_cell_carcinoma NS NS n COSV54907805 COSM4992638 111221760 c.107G>A p.W36* Substitution - Nonsense het 38 6:152539982-152539982 - - PATHOGENIC .93407 Confirmed somatic variant 25589618 fixed - NOS metastasis ENSP00000356222.4:p.Trp36Ter ENST00000367253.8:c.107G>A 6:g.152539982C>T FAM124B ENST00000409685.3 1368 26224 TCGA-44-2668-01 1780113 1684112 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV66272581 COSM6090765 123075579 c.468C>A p.Y156* Substitution - Nonsense 38 2:224401301-224401301 - - NEUTRAL .09715 Variant of unknown origin 417 fresh/frozen - NOS primary 51 ENSP00000386895.3:p.Tyr156Ter ENST00000409685.3:c.468C>A 2:g.224401301G>T FAM124B ENST00000409685.3 1368 26224 H157 2776238 2634374 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99062426 COSM7366976 123077593 c.941G>A p.W314* Substitution - Nonsense 38 2:224380000-224380000 - - PATHOGENIC .80494 Variant of unknown origin 29681454 NS NS 59 ENSP00000386895.3:p.Trp314Ter ENST00000409685.3:c.941G>A 2:g.224380000C>T ACIN1 ENST00000262710.5 4026 17066 TCGA-AP-A0LV-01 1783358 1687357 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV52977866 COSM954626 101554758 c.1199C>G p.S400* Substitution - Nonsense 38 14:23080310-23080310 - - PATHOGENIC .7122 Confirmed somatic variant 419 fresh/frozen - NOS primary 39 ENSP00000262710.1:p.Ser400Ter ENST00000262710.5:c.1199C>G 14:g.23080310G>C ACIN1 ENST00000262710.5 4026 17066 TCGA-EI-6507-01 1651616 1566403 large_intestine rectum NS NS carcinoma adenocarcinoma NS NS y COSV52976209 COSM1562694 101551035 c.2809G>T p.E937* Substitution - Nonsense 38 14:23063538-23063538 - - PATHOGENIC .94457 Confirmed somatic variant 375 NS primary 60 ENSP00000262710.1:p.Glu937Ter ENST00000262710.5:c.2809G>T 14:g.23063538C>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 TCGA-AG-4001-01 1651574 1566361 large_intestine rectum NS NS carcinoma adenocarcinoma NS NS y COSV99969802 COSM7521628 157533796 c.4562C>A p.S1521* Substitution - Nonsense 38 15:44595332-44595332 - - PATHOGENIC .95287 Confirmed somatic variant 375 NS primary 74 ENSP00000453599.1:p.Ser1521Ter ENST00000558319.5:c.4562C>A 15:g.44595332G>T SPG11_ENST00000558319 ENST00000558319.5 6240 11226 B96-Tumor 2186444 2054741 urinary_tract bladder NS NS carcinoma NS NS NS y COSV55999873 COSM1749168 157526345 c.2737C>T p.Q913* Substitution - Nonsense 38 15:44620287-44620287 - - NEUTRAL .37279 Confirmed somatic variant 581 NS NS ENSP00000453599.1:p.Gln913Ter ENST00000558319.5:c.2737C>T 15:g.44620287G>A ZNF677 ENST00000598513.5 1755 28730 MELA_20666 2760721 2619254 skin chest NS NS malignant_melanoma nodular NS NS y COSV104631498 COSM9306321 167375661 c.616C>T p.Q206* Substitution - Nonsense 38 19:53238111-53238111 - - NEUTRAL .17428 Confirmed somatic variant 30178487 surgery fresh/frozen metastasis 23 ENSP00000469391.1:p.Gln206Ter ENST00000598513.5:c.616C>T 19:g.53238111G>A GATA3 ENST00000379328.8 1335 4172 ATL294 2488891 2351540 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm adult_T_cell_lymphoma-leukaemia NS NS n COSV60519585 COSM5703732 116237345 c.559C>T p.Q187* Substitution - Nonsense 38 10:8058622-8058622 + - PATHOGENIC .97905 Confirmed somatic variant 26437031 NS NS ENSP00000368632.3:p.Gln187Ter ENST00000379328.8:c.559C>T 10:g.8058622C>T PLD1 ENST00000351298.8 3225 9067 TCGA-33-4582-01 1781111 1685110 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV60572942 COSM729094 109072374 c.2761G>T p.G921* Substitution - Nonsense 38 3:171612400-171612400 - - PATHOGENIC .98801 Variant of unknown origin 418 fresh/frozen - NOS primary 55 ENSP00000342793.4:p.Gly921Ter ENST00000351298.8:c.2761G>T 3:g.171612400C>A PLD1 ENST00000351298.8 3225 9067 MBC011T 2807201 2663905 breast NS NS NS carcinoma ductal_carcinoma NS NS n COSV100579264 COSM9124631 109083035 c.2191A>T p.R731* Substitution - Nonsense 38 3:171674538-171674538 - - PATHOGENIC .76227 Variant of unknown origin 31340200 surgery - NOS NS ENSP00000342793.4:p.Arg731Ter ENST00000351298.8:c.2191A>T 3:g.171674538T>A PLD1 ENST00000351298.8 3225 9067 587376 1766805 1671125 large_intestine colon NS NS carcinoma adenocarcinoma NS NS y COSV60570995 COSM1220999 109075787 c.841G>T p.E281* Substitution - Nonsense 38 3:171713963-171713963 - - PATHOGENIC .97155 Variant of unknown origin 22895193 surgery fresh/frozen primary ENSP00000342793.4:p.Glu281Ter ENST00000351298.8:c.841G>T 3:g.171713963C>A PLD1 ENST00000351298.8 3225 9067 HT115 2301987 2167270 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV60570995 COSM1220999 109075787 c.841G>T p.E281* Substitution - Nonsense het 38 3:171713963-171713963 - - PATHOGENIC .97155 Variant of unknown origin 24755471 cell-line NS ENSP00000342793.4:p.Glu281Ter ENST00000351298.8:c.841G>T 3:g.171713963C>A RGS6_ENST00000555571 ENST00000555571.5 1419 10002 TCGA-69-7979-01 1914043 1802325 lung right_upper_lobe NS NS carcinoma adenocarcinoma NS NS y COSV59586859 COSM6140940 156304431 c.712G>T p.E238* Substitution - Nonsense 38 14:72476760-72476760 + - PATHOGENIC .9331 Variant of unknown origin 417 fresh/frozen - NOS primary 71 ENSP00000450936.1:p.Glu238Ter ENST00000555571.5:c.712G>T 14:g.72476760G>T FAM124B ENST00000409685.3 1368 26224 T335135 2658230 2518389 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV54740158 COSM6658308 123076305 c.388C>T p.Q130* Substitution - Nonsense 38 2:224401381-224401381 - - PATHOGENIC .91346 Confirmed somatic variant 27149842 NS NS 85.66 ENSP00000386895.3:p.Gln130Ter ENST00000409685.3:c.388C>T 2:g.224401381G>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 TCGA-VS-A9UP-01 2386203 2249035 cervix NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99968205 COSM7710440 157523761 c.5258C>G p.S1753* Substitution - Nonsense 38 15:44584422-44584422 - - .54692 Confirmed somatic variant 415 NS primary 43 ENSP00000453599.1:p.Ser1753Ter ENST00000558319.5:c.5258C>G 15:g.44584422G>C ZNF677 ENST00000598513.5 1755 28730 TCGA-CN-A6V6-01 2385737 2248569 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV100448125 COSM8275883 167371755 c.1041C>A p.Y347* Substitution - Nonsense 38 19:53237686-53237686 - - NEUTRAL .00194 Confirmed somatic variant 627 NS primary 59 ENSP00000469391.1:p.Tyr347Ter ENST00000598513.5:c.1041C>A 19:g.53237686G>T ZNF677 ENST00000598513.5 1755 28730 CHG-13-29153T 2634325 2494721 liver NS NS NS other neoplasm NS NS y COSV61721104 COSM6317663 167371472 c.351C>A p.Y117* Substitution - Nonsense 38 19:53238376-53238376 - - NEUTRAL .01832 Confirmed somatic variant 660 NS primary 49 ENSP00000469391.1:p.Tyr117Ter ENST00000598513.5:c.351C>A 19:g.53238376G>T GATA3 ENST00000379328.8 1335 4172 PD24214a 2234122 2101627 breast NS NS NS carcinoma ductal_carcinoma NS NS y COSV60519827 COSM5752635 116241753 c.1128C>A p.C376* Substitution - Nonsense 38 10:8073816-8073816 + - PATHOGENIC .81903 Confirmed somatic variant 27135926 NS NS ENSP00000368632.3:p.Cys376Ter ENST00000379328.8:c.1128C>A 10:g.8073816C>A GATA3 ENST00000379328.8 1335 4172 PD24214a 2234122 2101627 breast NS NS NS carcinoma ductal_carcinoma NS NS y COSV60519827 COSM5752635 116241753 c.1128C>A p.C376* Substitution - Nonsense 38 10:8073816-8073816 + - PATHOGENIC .81903 Confirmed somatic variant 652 NS NS ENSP00000368632.3:p.Cys376Ter ENST00000379328.8:c.1128C>A 10:g.8073816C>A GATA3 ENST00000379328.8 1335 4172 P-0009828-T01-IM5 2725666 2584487 breast NS NS NS carcinoma ductal_carcinoma NS NS n COSV60515523 COSM41680 116232157 c.1099C>T p.R367* Substitution - Nonsense het 38 10:8073787-8073787 + - PATHOGENIC .75574 Confirmed somatic variant 28481359 surgery-fixed primary ENSP00000368632.3:p.Arg367Ter ENST00000379328.8:c.1099C>T 10:g.8073787C>T GATA3 ENST00000379328.8 1335 4172 TCGA-HU-8244-01 2197936 2066214 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV100651055 COSM8226427 116233572 c.916C>T p.R306* Substitution - Nonsense 38 10:8064130-8064130 + - PATHOGENIC .86952 Confirmed somatic variant 541 NS NS 77 ENSP00000368632.3:p.Arg306Ter ENST00000379328.8:c.916C>T 10:g.8064130C>T GATA3 ENST00000379328.8 1335 4172 P-0002417-T01-IM3 2718694 2577515 NS NS NS NS carcinoma of_unknown_primary NS NS n COSV60515523 COSM41680 116232157 c.1099C>T p.R367* Substitution - Nonsense het 38 10:8073787-8073787 + - PATHOGENIC .75574 Confirmed somatic variant 28481359 surgery-fixed metastasis ENSP00000368632.3:p.Arg367Ter ENST00000379328.8:c.1099C>T 10:g.8073787C>T PLD1 ENST00000351298.8 3225 9067 TCGA-AP-A0LM-01 1783352 1687351 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV60567680 COSM1041298 109080887 c.1264G>T p.E422* Substitution - Nonsense het 38 3:171692406-171692406 - - PATHOGENIC .98645 Variant of unknown origin 419 fresh/frozen - NOS primary 33 ENSP00000342793.4:p.Glu422Ter ENST00000351298.8:c.1264G>T 3:g.171692406C>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-YG-AA3O-06 2339483 2204466 skin NS NS NS malignant_melanoma NS NS NS y COSV54920772 COSM3621967 111204232 c.3130C>T p.R1044* Substitution - Nonsense 38 6:152451103-152451103 - - PATHOGENIC .90744 Confirmed somatic variant 540 NS NS 62 ENSP00000356222.4:p.Arg1044Ter ENST00000367253.8:c.3130C>T 6:g.152451103G>A FAM124B ENST00000409685.3 1368 26224 2492714 2492714 2355329 skin NS NS NS malignant_melanoma NS NS NS y COSV66271828 COSM5606532 123076240 c.856C>T p.Q286* Substitution - Nonsense 38 2:224380085-224380085 - - NEUTRAL .0791 Confirmed somatic variant 26286987 surgery fresh/frozen metastasis ENSP00000386895.3:p.Gln286Ter ENST00000409685.3:c.856C>T 2:g.224380085G>A ARNTL ENST00000403290.5 1881 701 B104-0 2097252 1975316 urinary_tract bladder NS NS carcinoma transitional_cell_carcinoma NS NS y COSV62985710 COSM1746145 121568373 c.358C>T p.Q120* Substitution - Nonsense 38 11:13358570-13358570 + - PATHOGENIC .97898 Confirmed somatic variant 24121792 fresh/frozen - NOS NS ENSP00000384517.1:p.Gln120Ter ENST00000403290.5:c.358C>T 11:g.13358570C>T ACIN1 ENST00000262710.5 4026 17066 APGI-AMP-2694 2866030 2721107 pancreas ampulla_of_Vater NS NS carcinoma ductal_carcinoma NS NS y COSV105009134 COSM9614263 101548516 c.3286C>T p.R1096* Substitution - Nonsense 38 14:23061610-23061610 - - PATHOGENIC .96337 Confirmed somatic variant 26804919 surgery fresh/frozen NS ENSP00000262710.1:p.Arg1096Ter ENST00000262710.5:c.3286C>T 14:g.23061610G>A ACIN1 ENST00000262710.5 4026 17066 B45 2097280 1975344 urinary_tract bladder NS NS carcinoma transitional_cell_carcinoma NS NS y COSV52973419 COSM1756885 101549874 c.2530C>T p.Q844* Substitution - Nonsense 38 14:23064441-23064441 - - PATHOGENIC .97337 Confirmed somatic variant 24121792 fresh/frozen - NOS NS ENSP00000262710.1:p.Gln844Ter ENST00000262710.5:c.2530C>T 14:g.23064441G>A ACIN1 ENST00000262710.5 4026 17066 B45-Tumor 2186443 2054740 urinary_tract bladder NS NS carcinoma NS NS NS y COSV52973419 COSM1756885 101549874 c.2530C>T p.Q844* Substitution - Nonsense 38 14:23064441-23064441 - - PATHOGENIC .97337 Confirmed somatic variant 581 NS NS ENSP00000262710.1:p.Gln844Ter ENST00000262710.5:c.2530C>T 14:g.23064441G>A ACIN1 ENST00000262710.5 4026 17066 T458 2658304 2518463 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV52976153 COSM6592101 101548919 c.3934C>T p.R1312* Substitution - Nonsense 38 14:23059240-23059240 - - NEUTRAL .45845 Confirmed somatic variant 27149842 NS NS 74.33 ENSP00000262710.1:p.Arg1312Ter ENST00000262710.5:c.3934C>T 14:g.23059240G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 2906640 2906640 2760891 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV71392523 COSM1425522 138595765 c.544C>T p.R182* Substitution - Nonsense 38 3:78717880-78717880 - - PATHOGENIC .96008 Confirmed somatic variant 29616327 surgery-fixed metastasis 70 ENSP00000420637.1:p.Arg182Ter ENST00000495273.5:c.544C>T 3:g.78717880G>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 TCGA-CK-4951-01 2193432 2061710 large_intestine colon NS NS carcinoma adenocarcinoma NS NS y COSV99968727 COSM7621139 157531126 c.5215A>T p.K1739* Substitution - Nonsense 38 15:44584465-44584465 - - PATHOGENIC .89002 Confirmed somatic variant 376 NS NS 79 ENSP00000453599.1:p.Lys1739Ter ENST00000558319.5:c.5215A>T 15:g.44584465T>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 W14T 2745046 2603749 thyroid NS NS NS carcinoma NS NS NS y COSV55995996 COSM6379678 157523184 c.3313G>T p.E1105* Substitution - Nonsense 38 15:44608584-44608584 - - PATHOGENIC .98594 Confirmed somatic variant 676 NS primary 59 ENSP00000453599.1:p.Glu1105Ter ENST00000558319.5:c.3313G>T 15:g.44608584C>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 2857112 2857112 2712412 urinary_tract bladder NS NS carcinoma transitional_cell_carcinoma NS NS y COSV105072406 COSM9530880 157527454 c.6049G>T p.E2017* Substitution - Nonsense 38 15:44573703-44573703 - - NEUTRAL .22087 Confirmed somatic variant 25096233 surgery - NOS NS ENSP00000453599.1:p.Glu2017Ter ENST00000558319.5:c.6049G>T 15:g.44573703C>A GATA3 ENST00000379328.8 1335 4172 P-0016093-T01-IM6 2830808 2686623 breast NS NS NS carcinoma ductal_carcinoma NS NS n COSV104663815 COSM9359820 116235272 c.336G>A p.W112* Substitution - Nonsense 38 10:8058399-8058399 + - PATHOGENIC .97194 Confirmed somatic variant 30205045 surgery-fixed metastasis 48 ENSP00000368632.3:p.Trp112Ter ENST00000379328.8:c.336G>A 10:g.8058399G>A POLR3H_ENST00000337566 ENST00000337566.9 528 30349 TCGA-AX-A0J1-01 1783377 1687376 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV61749463 COSM1034650 106542936 c.48G>A p.W16* Substitution - Nonsense het 38 22:41544054-41544054 - - PATHOGENIC .72904 Reported in another cancer sample as somatic 419 fresh/frozen - NOS primary 80 ENSP00000337627.5:p.Trp16Ter ENST00000337566.9:c.48G>A 22:g.41544054C>T PLD1 ENST00000351298.8 3225 9067 KMS12PE 2809764 2666434 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm plasma_cell_myeloma NS NS y COSV100578889 COSM9150465 109072715 c.1666A>T p.K556* Substitution - Nonsense het 38 3:171687458-171687458 - - PATHOGENIC .99129 Variant of unknown origin 30545397 cell-line NS ENSP00000342793.4:p.Lys556Ter ENST00000351298.8:c.1666A>T 3:g.171687458T>A PLD1 ENST00000351298.8 3225 9067 2834135 2834135 2689919 skin mucosal female_genital_tract_(site_indeterminate) NS malignant_melanoma NS NS NS y COSV104646708 COSM9338709 109079232 c.565A>T p.K189* Substitution - Nonsense 38 3:171733485-171733485 - - PATHOGENIC .8809 Variant of unknown origin 28296713 surgery - NOS primary 72 ENSP00000342793.4:p.Lys189Ter ENST00000351298.8:c.565A>T 3:g.171733485T>A FAM124B ENST00000409685.3 1368 26224 Au8 2466847 2329678 skin ankle NS NS malignant_melanoma desmoplastic NS NS y COSV66271828 COSM5606532 123076240 c.856C>T p.Q286* Substitution - Nonsense 38 2:224380085-224380085 - - NEUTRAL .0791 Confirmed somatic variant 26343386 surgery fresh/frozen NS 63 ENSP00000386895.3:p.Gln286Ter ENST00000409685.3:c.856C>T 2:g.224380085G>A FAM124B ENST00000409685.3 1368 26224 T3235 2658250 2518409 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV66272076 COSM6658304 123077692 c.235G>T p.E79* Substitution - Nonsense 38 2:224401534-224401534 - - PATHOGENIC .84394 Confirmed somatic variant 27149842 NS NS 86 ENSP00000386895.3:p.Glu79Ter ENST00000409685.3:c.235G>T 2:g.224401534C>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 tumor_4118156 2634533 2494929 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm NS NS NS y COSV71392199 COSM6205002 138576512 c.181G>T p.E61* Substitution - Nonsense 38 3:78938802-78938802 - - PATHOGENIC .97507 Confirmed somatic variant 440 NS primary 70 ENSP00000420637.1:p.Glu61Ter ENST00000495273.5:c.181G>T 3:g.78938802C>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 631092 1759417 1664165 lung NS NS NS carcinoma small_cell_carcinoma NS NS y COSV55995942 COSM326557 157523876 c.3883G>T p.E1295* Substitution - Nonsense 38 15:44598640-44598640 - - PATHOGENIC .95608 Confirmed somatic variant 22941189 fresh/frozen - NOS primary ENSP00000453599.1:p.Glu1295Ter ENST00000558319.5:c.3883G>T 15:g.44598640C>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 Thyroid-CN-WZ036T 2635097 2495493 thyroid NS NS NS carcinoma NS NS NS y COSV55995996 COSM6379678 157523184 c.3313G>T p.E1105* Substitution - Nonsense 38 15:44608584-44608584 - - PATHOGENIC .98594 Confirmed somatic variant 676 NS primary 59 ENSP00000453599.1:p.Glu1105Ter ENST00000558319.5:c.3313G>T 15:g.44608584C>A ZNF677 ENST00000598513.5 1755 28730 TCGA-DU-7298-01 2194176 2062454 central_nervous_system brain NS NS glioma NS NS NS y COSV100448135 COSM8256978 167371467 c.652G>T p.E218* Substitution - Nonsense 38 19:53238075-53238075 - - NEUTRAL .18183 Confirmed somatic variant 545 NS NS 38 ENSP00000469391.1:p.Glu218Ter ENST00000598513.5:c.652G>T 19:g.53238075C>A GATA3 ENST00000379328.8 1335 4172 TCGA-YG-AA3O-06 2339483 2204466 skin NS NS NS malignant_melanoma NS NS NS y COSV100650804 COSM8088283 116241525 c.335G>A p.W112* Substitution - Nonsense 38 10:8058398-8058398 + - PATHOGENIC .96695 Confirmed somatic variant 540 NS NS 62 ENSP00000368632.3:p.Trp112Ter ENST00000379328.8:c.335G>A 10:g.8058398G>A POLR3H_ENST00000337566 ENST00000337566.9 528 30349 Pat_63_B 2492903 2355517 NS NS NS NS malignant_melanoma NS NS NS y COSV61749463 COSM1034650 106542936 c.48G>A p.W16* Substitution - Nonsense 38 22:41544054-41544054 - - PATHOGENIC .72904 Confirmed somatic variant 24265153 surgery-fixed NS 48 ENSP00000337627.5:p.Trp16Ter ENST00000337566.9:c.48G>A 22:g.41544054C>T PLD1 ENST00000351298.8 3225 9067 UM-SCC-2 2296304 2161907 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV60570814 COSM3204774 109073175 c.1219C>T p.R407* Substitution - Nonsense 38 3:171699753-171699753 - - PATHOGENIC .92468 Variant of unknown origin 25275298 cell-line NS 64 ENSP00000342793.4:p.Arg407Ter ENST00000351298.8:c.1219C>T 3:g.171699753G>A PLD1 ENST00000351298.8 3225 9067 TCGA-BS-A0UF-01 1783473 1687472 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV60565265 COSM1041300 109073518 c.973G>T p.E325* Substitution - Nonsense het 38 3:171709648-171709648 - - PATHOGENIC .939 Reported in another cancer sample as somatic 419 fresh/frozen - NOS primary 65 ENSP00000342793.4:p.Glu325Ter ENST00000351298.8:c.973G>T 3:g.171709648C>A FAM124B ENST00000409685.3 1368 26224 BD179T 2459810 2322647 biliary_tract bile_duct NS NS carcinoma NS NS NS y COSV54739828 COSM5499797 123075921 c.275C>A p.S92* Substitution - Nonsense 38 2:224401494-224401494 - - PATHOGENIC .84775 Confirmed somatic variant 658 NS primary 44 ENSP00000386895.3:p.Ser92Ter ENST00000409685.3:c.275C>A 2:g.224401494G>T ARNTL ENST00000403290.5 1881 701 TUD-AMP-719 2866006 2721083 pancreas ampulla_of_Vater NS NS carcinoma ductal_carcinoma NS NS y COSV105265357 COSM9615655 121574210 c.730C>T p.R244* Substitution - Nonsense 38 11:13369677-13369677 + - PATHOGENIC .76202 Confirmed somatic variant 26804919 surgery fresh/frozen NS ENSP00000384517.1:p.Arg244Ter ENST00000403290.5:c.730C>T 11:g.13369677C>T ARNTL ENST00000403290.5 1881 701 2293776 2293776 2159827 adrenal_gland adrenal_gland NS NS adrenal_cortical_carcinoma functioning NS NS y COSV62985016 COSM4607507 121566609 c.1189G>T p.E397* Substitution - Nonsense 38 11:13375626-13375626 + - PATHOGENIC .99063 Confirmed somatic variant 24747642 surgery-fixed NS 48.4 ENSP00000384517.1:p.Glu397Ter ENST00000403290.5:c.1189G>T 11:g.13375626G>T SPG11_ENST00000558319 ENST00000558319.5 6240 11226 TCGA-EE-A3AG-06 2121698 1995934 skin NS NS NS malignant_melanoma NS NS NS y COSV56000967 COSM3501558 157523784 c.6196C>T p.Q2066* Substitution - Nonsense 38 15:44573556-44573556 - - PATHOGENIC .78373 Confirmed somatic variant 540 NS NS 25 ENSP00000453599.1:p.Gln2066Ter ENST00000558319.5:c.6196C>T 15:g.44573556G>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 TCGA-D3-A2JP-06 2121524 1995760 skin NS NS NS malignant_melanoma NS NS NS y COSV99969251 COSM8147069 157528533 c.3751G>T p.G1251* Substitution - Nonsense 38 15:44598772-44598772 - - PATHOGENIC .90452 Confirmed somatic variant 540 NS NS 37 ENSP00000453599.1:p.Gly1251Ter ENST00000558319.5:c.3751G>T 15:g.44598772C>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 HKNPC-003-Tumor-SM-64MF1 2640101 2500402 upper_aerodigestive_tract pharynx nasopharynx NS carcinoma nasopharyngeal_carcinoma NS NS y COSV55991783 COSM5630500 157522638 c.5225C>G p.S1742* Substitution - Nonsense 38 15:44584455-44584455 - - PATHOGENIC .72248 Confirmed somatic variant 28098136 surgery-fixed primary 74 ENSP00000453599.1:p.Ser1742Ter ENST00000558319.5:c.5225C>G 15:g.44584455G>C SPG11_ENST00000558319 ENST00000558319.5 6240 11226 BK0024 2237578 2105082 kidney NS NS NS carcinoma clear_cell_renal_cell_carcinoma NS NS y COSV55999892 COSM4186448 157526354 c.4288G>T p.E1430* Substitution - Nonsense 38 15:44596229-44596229 - - NEUTRAL .06698 Confirmed somatic variant 24504440 surgery - NOS NS ENSP00000453599.1:p.Glu1430Ter ENST00000558319.5:c.4288G>T 15:g.44596229C>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 CSCC-62-T 2292493 2158557 skin head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV55999681 COSM4518061 157523579 c.50_51delinsAA p.W17* Substitution - Nonsense het 38 15:44663597-44663598 - - Confirmed somatic variant 25303977 surgery fresh/frozen primary 37 ENSP00000453599.1:p.Trp17Ter ENST00000558319.5:c.50_51delinsAA 15:g.44663597_44663598delinsTT GATA3 ENST00000379328.8 1335 4172 16093 2373608 2236401 breast NS NS NS carcinoma luminal_NS_carcinoma NS NS n COSV60523016 COSM5029090 116239860 c.1072A>T p.K358* Substitution - Nonsense 38 10:8073760-8073760 + - PATHOGENIC .92208 Confirmed somatic variant 22722193 NS NS ENSP00000368632.3:p.Lys358Ter ENST00000379328.8:c.1072A>T 10:g.8073760A>T GATA3 ENST00000379328.8 1335 4172 P-0005694-T01-IM5 2722079 2580900 lung NS NS NS carcinoma adenocarcinoma NS NS n COSV60519624 COSM6945338 116232715 c.1145C>A p.S382* Substitution - Nonsense het 38 10:8073833-8073833 + - .56331 Confirmed somatic variant 28481359 surgery - NOS primary ENSP00000368632.3:p.Ser382Ter ENST00000379328.8:c.1145C>A 10:g.8073833C>A GATA3 ENST00000379328.8 1335 4172 TCGA-55-A4DF-01 2194896 2063174 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV100651246 COSM7737806 116233682 c.1195A>T p.R399* Substitution - Nonsense 38 10:8073883-8073883 + - .66474 Confirmed somatic variant 417 NS NS 88 ENSP00000368632.3:p.Arg399Ter ENST00000379328.8:c.1195A>T 10:g.8073883A>T PLD1 ENST00000351298.8 3225 9067 HCC2998 2301977 2167260 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV60566683 COSM1670699 109070817 c.331G>T p.E111* Substitution - Nonsense het 38 3:171735595-171735595 - - PATHOGENIC .94294 Reported in another cancer sample as somatic 24755471 cell-line NS ENSP00000342793.4:p.Glu111Ter ENST00000351298.8:c.331G>T 3:g.171735595C>A PLD1 ENST00000351298.8 3225 9067 PD_06 2688647 2547629 skin face NS NS carcinoma squamous_cell_carcinoma NS NS y COSV60575579 COSM6878505 109074129 c.1931G>A p.W644* Substitution - Nonsense het 38 3:171677631-171677631 - - PATHOGENIC .98842 Confirmed somatic variant 24662767 surgery fresh/frozen NS 75 ENSP00000342793.4:p.Trp644Ter ENST00000351298.8:c.1931G>A 3:g.171677631C>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-EE-A182-06 2121623 1995859 skin NS NS NS malignant_melanoma NS NS NS y COSV54920772 COSM3621967 111204232 c.3130C>T p.R1044* Substitution - Nonsense 38 6:152451103-152451103 - - PATHOGENIC .90744 Confirmed somatic variant 540 NS NS 84 ENSP00000356222.4:p.Arg1044Ter ENST00000367253.8:c.3130C>T 6:g.152451103G>A FAM124B ENST00000409685.3 1368 26224 TCGA-MI-A75C-01 2262801 2129785 liver NS NS NS carcinoma hepatocellular_carcinoma NS NS y COSV66271334 COSM4923116 123078993 c.484A>T p.R162* Substitution - Nonsense 38 2:224401285-224401285 - - .57457 Confirmed somatic variant 628 NS primary 64 ENSP00000386895.3:p.Arg162Ter ENST00000409685.3:c.484A>T 2:g.224401285T>A FAM124B ENST00000409685.3 1368 26224 2492713 2492713 2355328 skin NS NS NS malignant_melanoma NS NS NS y COSV66271828 COSM5606532 123076240 c.856C>T p.Q286* Substitution - Nonsense 38 2:224380085-224380085 - - NEUTRAL .0791 Confirmed somatic variant 26286987 surgery fresh/frozen metastasis ENSP00000386895.3:p.Gln286Ter ENST00000409685.3:c.856C>T 2:g.224380085G>A ARNTL ENST00000403290.5 1881 701 10C 2549424 2410879 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV62985543 COSM7279002 121567726 c.241G>T p.E81* Substitution - Nonsense 38 11:13358453-13358453 + - PATHOGENIC .99848 Confirmed somatic variant 646 NS primary 56 ENSP00000384517.1:p.Glu81Ter ENST00000403290.5:c.241G>T 11:g.13358453G>T ACIN1 ENST00000262710.5 4026 17066 TCGA-B5-A1MR-01 2198376 2066654 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV99399405 COSM7532886 101546564 c.3511C>T p.R1171* Substitution - Nonsense 38 14:23061385-23061385 - - PATHOGENIC .92628 Confirmed somatic variant 419 NS NS 65 ENSP00000262710.1:p.Arg1171Ter ENST00000262710.5:c.3511C>T 14:g.23061385G>A ACIN1 ENST00000262710.5 4026 17066 TCGA-F1-6177-01 2198156 2066434 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV52978292 COSM4049971 101553601 c.3478C>T p.R1160* Substitution - Nonsense 38 14:23061418-23061418 - - PATHOGENIC .95972 Confirmed somatic variant 541 NS NS 90 ENSP00000262710.1:p.Arg1160Ter ENST00000262710.5:c.3478C>T 14:g.23061418G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-AJ-A3EL-01 2198271 2066549 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV71394846 COSM1048564 138567865 c.4573C>T p.R1525* Substitution - Nonsense 38 3:78606769-78606769 - - PATHOGENIC .95268 Confirmed somatic variant 419 NS NS 47 ENSP00000420637.1:p.Arg1525Ter ENST00000495273.5:c.4573C>T 3:g.78606769G>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 TCGA-FX-A3TO-01 2269679 2136447 soft_tissue NS NS NS sarcoma NS NS NS y COSV99967948 COSM8452511 157524350 c.5165C>A p.S1722* Substitution - Nonsense 38 15:44584515-44584515 - - .59503 Confirmed somatic variant 635 NS NS ENSP00000453599.1:p.Ser1722Ter ENST00000558319.5:c.5165C>A 15:g.44584515G>T ZNF677 ENST00000598513.5 1755 28730 TCGA-55-8301-01 2194837 2063115 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV100448040 COSM7743402 167375352 c.181G>T p.G61* Substitution - Nonsense 38 19:53238546-53238546 - - NEUTRAL .02024 Confirmed somatic variant 417 NS NS 58 ENSP00000469391.1:p.Gly61Ter ENST00000598513.5:c.181G>T 19:g.53238546C>A ZNF677 ENST00000598513.5 1755 28730 YUMUT 2013655 1896287 skin NS NS NS malignant_melanoma NS NS NS y COSV61719518 COSM1712734 167373702 c.439C>T p.Q147* Substitution - Nonsense het 38 19:53238288-53238288 - - NEUTRAL .30001 Confirmed somatic variant 22842228 NS NS ENSP00000469391.1:p.Gln147Ter ENST00000598513.5:c.439C>T 19:g.53238288G>A ZNF677 ENST00000598513.5 1755 28730 TCGA-EE-A3AA-06 2121692 1995928 skin NS NS NS malignant_melanoma NS NS NS y COSV61719822 COSM3538316 167372357 c.928C>T p.Q310* Substitution - Nonsense 38 19:53237799-53237799 - - NEUTRAL .01058 Confirmed somatic variant 540 NS NS 47 ENSP00000469391.1:p.Gln310Ter ENST00000598513.5:c.928C>T 19:g.53237799G>A GATA3 ENST00000379328.8 1335 4172 ATL159 2488782 2351431 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm adult_T_cell_lymphoma-leukaemia NS NS n COSV60515587 COSM5703720 116232250 c.189C>G p.Y63* Substitution - Nonsense 38 10:8055844-8055844 + - PATHOGENIC .94214 Confirmed somatic variant 26437031 NS NS ENSP00000368632.3:p.Tyr63Ter ENST00000379328.8:c.189C>G 10:g.8055844C>G GATA3 ENST00000379328.8 1335 4172 ATL219 2488819 2351468 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm adult_T_cell_lymphoma-leukaemia NS NS n COSV60517757 COSM5703719 116241244 c.189C>A p.Y63* Substitution - Nonsense 38 10:8055844-8055844 + - PATHOGENIC .93959 Confirmed somatic variant 26437031 NS NS ENSP00000368632.3:p.Tyr63Ter ENST00000379328.8:c.189C>A 10:g.8055844C>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-FW-A3TV-06 2121785 1996021 skin NS NS NS malignant_melanoma NS NS NS y COSV54929870 COSM3021443 111189490 c.529C>T p.Q177* Substitution - Nonsense 38 6:152510245-152510245 - - PATHOGENIC .95014 Confirmed somatic variant 540 NS NS 57 ENSP00000356222.4:p.Gln177Ter ENST00000367253.8:c.529C>T 6:g.152510245G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-BF-A1PU-01 2262877 2129861 skin NS NS NS malignant_melanoma NS NS NS y COSV99549837 COSM7863765 111181345 c.4366G>T p.E1456* Substitution - Nonsense 38 6:152433890-152433890 - - PATHOGENIC .9767 Confirmed somatic variant 540 NS primary 46 ENSP00000356222.4:p.Glu1456Ter ENST00000367253.8:c.4366G>T 6:g.152433890C>A FAM124B ENST00000409685.3 1368 26224 TCGA-FW-A3R5-06 2185962 2054259 skin NS NS NS malignant_melanoma NS NS NS y COSV66272177 COSM3909701 123078337 c.692G>A p.W231* Substitution - Nonsense 38 2:224401077-224401077 - - PATHOGENIC .90421 Confirmed somatic variant 540 NS NS 68 ENSP00000386895.3:p.Trp231Ter ENST00000409685.3:c.692G>A 2:g.224401077C>T FAM124B ENST00000409685.3 1368 26224 TCGA-EE-A3JI-06 2121704 1995940 skin NS NS NS malignant_melanoma NS NS NS y COSV66272749 COSM3578270 123076364 c.321T>A p.C107* Substitution - Nonsense 38 2:224401448-224401448 - - NEUTRAL .16433 Confirmed somatic variant 540 NS NS 48 ENSP00000386895.3:p.Cys107Ter ENST00000409685.3:c.321T>A 2:g.224401448A>T FAM124B ENST00000409685.3 1368 26224 S01020_1 2480840 2343585 lung NS NS NS carcinoma small_cell_carcinoma NS NS y COSV66272189 COSM5665108 123076565 c.112G>T p.E38* Substitution - Nonsense 38 2:224401657-224401657 - - PATHOGENIC .8824 Confirmed somatic variant 26168399 autopsy-fresh/frozen primary 33 ENSP00000386895.3:p.Glu38Ter ENST00000409685.3:c.112G>T 2:g.224401657C>A FAM124B ENST00000409685.3 1368 26224 2492712 2492712 2355327 skin NS NS NS malignant_melanoma NS NS NS y COSV66271828 COSM5606532 123076240 c.856C>T p.Q286* Substitution - Nonsense 38 2:224380085-224380085 - - NEUTRAL .0791 Confirmed somatic variant 26286987 surgery fresh/frozen metastasis ENSP00000386895.3:p.Gln286Ter ENST00000409685.3:c.856C>T 2:g.224380085G>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 NPC5F 2366780 2229638 upper_aerodigestive_tract pharynx nasopharynx NS carcinoma nasopharyngeal_carcinoma NS NS y COSV55992765 COSM4995576 157524438 c.4526C>A p.S1509* Substitution - Nonsense 38 15:44595368-44595368 - - NEUTRAL .13809 Confirmed somatic variant 24952746 NS primary 64 ENSP00000453599.1:p.Ser1509Ter ENST00000558319.5:c.4526C>A 15:g.44595368G>T SPG11_ENST00000558319 ENST00000558319.5 6240 11226 Pat_41_B 2513797 2376166 NS NS NS NS malignant_melanoma NS NS NS y COSV55991054 COSM5740322 157523279 c.6091C>T p.R2031* Substitution - Nonsense 38 15:44573661-44573661 - - PATHOGENIC .83224 Confirmed somatic variant 24265153 surgery-fixed NS 76 ENSP00000453599.1:p.Arg2031Ter ENST00000558319.5:c.6091C>T 15:g.44573661G>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 TCGA-EY-A1G8-01 2198478 2066756 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV99968789 COSM9071179 157527676 c.4738G>T p.E1580* Substitution - Nonsense 38 15:44592336-44592336 - - PATHOGENIC .81157 Confirmed somatic variant 419 NS NS 83 ENSP00000453599.1:p.Glu1580Ter ENST00000558319.5:c.4738G>T 15:g.44592336C>A ZNF677 ENST00000598513.5 1755 28730 CRC_08 2872789 2727783 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV105886283 COSM9940221 167376020 c.1051G>T p.E351* Substitution - Nonsense 38 19:53237676-53237676 - - NEUTRAL .00151 Confirmed somatic variant 30239619 surgery - NOS NS ENSP00000469391.1:p.Glu351Ter ENST00000598513.5:c.1051G>T 19:g.53237676C>A ZNF677 ENST00000598513.5 1755 28730 TCGA-FS-A1ZG-06 2121759 1995995 skin NS NS NS malignant_melanoma NS NS NS y COSV100448035 COSM8130260 167372271 c.859G>T p.G287* Substitution - Nonsense 38 19:53237868-53237868 - - PATHOGENIC .77463 Confirmed somatic variant 540 NS NS 60 ENSP00000469391.1:p.Gly287Ter ENST00000598513.5:c.859G>T 19:g.53237868C>A POLR3H_ENST00000337566 ENST00000337566.9 528 30349 WGC074454 2549407 2410862 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV53444403 COSM7273828 106543908 c.516G>A p.W172* Substitution - Nonsense 38 22:41529295-41529295 - - PATHOGENIC .99744 Confirmed somatic variant 646 NS primary 27 ENSP00000337627.5:p.Trp172Ter ENST00000337566.9:c.516G>A 22:g.41529295C>T POLR3H_ENST00000337566 ENST00000337566.9 528 30349 TCGA-DD-A1EE-01 2194658 2062936 liver NS NS NS carcinoma hepatocellular_carcinoma NS NS y COSV99346935 COSM8417515 106542725 c.251C>A p.S84* Substitution - Nonsense 38 22:41532115-41532115 - - PATHOGENIC .99419 Confirmed somatic variant 628 NS NS 73 ENSP00000337627.5:p.Ser84Ter ENST00000337566.9:c.251C>A 22:g.41532115G>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 045T 2067114 1946911 liver NS NS NS carcinoma hepatocellular_carcinoma NS NS y COSV54942142 COSM1729694 111187214 c.3610G>T p.G1204* Substitution - Nonsense 38 6:152447517-152447517 - - PATHOGENIC .96573 Confirmed somatic variant 23788652 surgery - NOS primary ENSP00000356222.4:p.Gly1204Ter ENST00000367253.8:c.3610G>T 6:g.152447517C>A FAM124B ENST00000409685.3 1368 26224 2492711 2492711 2355326 skin ankle NS NS malignant_melanoma NS NS NS y COSV66271828 COSM5606532 123076240 c.856C>T p.Q286* Substitution - Nonsense 38 2:224380085-224380085 - - NEUTRAL .0791 Confirmed somatic variant 26286987 surgery fresh/frozen primary ENSP00000386895.3:p.Gln286Ter ENST00000409685.3:c.856C>T 2:g.224380085G>A FAM124B ENST00000409685.3 1368 26224 TCGA-EE-A2M8-06 2121674 1995910 skin NS NS NS malignant_melanoma NS NS NS y COSV99706303 COSM8030376 123075942 c.136G>T p.E46* Substitution - Nonsense 38 2:224401633-224401633 - - PATHOGENIC .94014 Confirmed somatic variant 540 NS NS 54 ENSP00000386895.3:p.Glu46Ter ENST00000409685.3:c.136G>T 2:g.224401633C>A ARNTL ENST00000403290.5 1881 701 TCGA-D1-A17D-01 1783526 1687525 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV62986912 COSM925133 121567974 c.520G>T p.E174* Substitution - Nonsense 38 11:13365560-13365560 + - PATHOGENIC .9911 Confirmed somatic variant 419 fresh/frozen - NOS primary 58 ENSP00000384517.1:p.Glu174Ter ENST00000403290.5:c.520G>T 11:g.13365560G>T ACIN1 ENST00000262710.5 4026 17066 2748828 2748828 2607531 biliary_tract bile_duct NS NS carcinoma adenocarcinoma NS NS y COSV52982363 COSM7323622 101552781 c.3170C>G p.S1057* Substitution - Nonsense 38 14:23062271-23062271 - - .57809 Confirmed somatic variant 29360550 surgery fresh/frozen NS 80 ENSP00000262710.1:p.Ser1057Ter ENST00000262710.5:c.3170C>G 14:g.23062271G>C SPG11_ENST00000558319 ENST00000558319.5 6240 11226 IGC-04-1178 2662312 2522436 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV55997580 COSM6522027 157523630 c.2404G>T p.G802* Substitution - Nonsense 38 15:44622260-44622260 - - NEUTRAL .39835 Confirmed somatic variant 27923066 surgery fresh/frozen primary ENSP00000453599.1:p.Gly802Ter ENST00000558319.5:c.2404G>T 15:g.44622260C>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 61 2497169 2359521 small_intestine duodenum NS NS adenoma NS NS NS y COSV55991054 COSM5740322 157523279 c.6091C>T p.R2031* Substitution - Nonsense 38 15:44573661-44573661 - - PATHOGENIC .83224 Confirmed somatic variant 26806338 fresh/frozen - NOS primary ENSP00000453599.1:p.Arg2031Ter ENST00000558319.5:c.6091C>T 15:g.44573661G>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 TCGA-85-7844-01 2195175 2063453 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV55992765 COSM4995576 157524438 c.4526C>A p.S1509* Substitution - Nonsense 38 15:44595368-44595368 - - NEUTRAL .13809 Confirmed somatic variant 418 NS NS 71 ENSP00000453599.1:p.Ser1509Ter ENST00000558319.5:c.4526C>A 15:g.44595368G>T MBNL1_ENST00000485509 ENST00000485509.5 1023 6923 2640268 2640268 2500569 large_intestine rectum NS NS carcinoma adenocarcinoma NS NS y COSV104616320 COSM9412494 137661179 c.265C>T p.Q89* Substitution - Nonsense 38 3:152415031-152415031 + - PATHOGENIC .9901 Confirmed somatic variant 27612425 surgery fresh/frozen NS 38 ENSP00000418876.1:p.Gln89Ter ENST00000485509.5:c.265C>T 3:g.152415031C>T OR6C75_ENST00000343399 ENST00000343399.3 939 31304 LUAD-NYU1219 1765242 1669562 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV58552281 COSM369863 107660954 c.62G>A p.W21* Substitution - Nonsense 38 12:55365172-55365172 + - NEUTRAL .06871 Variant of unknown origin 22980975 surgery - NOS primary 77 ENSP00000368987.1:p.Trp21Ter ENST00000343399.3:c.62G>A 12:g.55365172G>A PLD1 ENST00000351298.8 3225 9067 173 2748145 2606848 stomach NS NS NS carcinoma NS NS NS y COSV100579244 COSM8607155 109082261 c.259G>T p.E87* Substitution - Nonsense 38 3:171737561-171737561 - - PATHOGENIC .97034 Confirmed somatic variant 683 NS primary ENSP00000342793.4:p.Glu87Ter ENST00000351298.8:c.259G>T 3:g.171737561C>A PLD1 ENST00000351298.8 3225 9067 TCGA-ZF-AA4N-01 2385824 2248656 urinary_tract bladder NS NS carcinoma NS NS NS y COSV100578694 COSM7660963 109079914 c.1648G>T p.G550* Substitution - Nonsense 38 3:171687476-171687476 - - PATHOGENIC .99574 Confirmed somatic variant 413 NS primary 74 ENSP00000342793.4:p.Gly550Ter ENST00000351298.8:c.1648G>T 3:g.171687476C>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 DN1104A 2549207 2410662 breast NS NS NS carcinoma HER-positive_carcinoma NS NS y COSV54899826 COSM1441677 111173688 c.706C>T p.R236* Substitution - Nonsense 38 6:152505273-152505273 - - PATHOGENIC .83123 Confirmed somatic variant 27406316 NS primary 62 ENSP00000356222.4:p.Arg236Ter ENST00000367253.8:c.706C>T 6:g.152505273G>A FAM124B ENST00000409685.3 1368 26224 PD42103a 2894845 2749333 skin head_neck NS NS malignant_melanoma nodular NS NS y COSV105034042 COSM9900275 123078567 c.378G>A p.W126* Substitution - Nonsense 38 2:224401391-224401391 - - PATHOGENIC .92841 Confirmed somatic variant 33024263 surgery-fixed metastasis 62 ENSP00000386895.3:p.Trp126Ter ENST00000409685.3:c.378G>A 2:g.224401391C>T ACIN1 ENST00000262710.5 4026 17066 25 2747997 2606700 stomach NS NS NS carcinoma NS NS NS y COSV99399675 COSM8615877 101551363 c.2992C>T p.R998* Substitution - Nonsense 38 14:23062994-23062994 - - PATHOGENIC .88727 Confirmed somatic variant 683 NS primary ENSP00000262710.1:p.Arg998Ter ENST00000262710.5:c.2992C>T 14:g.23062994G>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 TCGA-VQ-A923-01 2457362 2320199 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV99969629 COSM8188972 157527842 c.6133A>T p.K2045* Substitution - Nonsense 38 15:44573619-44573619 - - NEUTRAL .08668 Confirmed somatic variant 541 NS primary 90 ENSP00000453599.1:p.Lys2045Ter ENST00000558319.5:c.6133A>T 15:g.44573619T>A ZNF677 ENST00000598513.5 1755 28730 BK0004 2237563 2105067 kidney NS NS NS carcinoma clear_cell_renal_cell_carcinoma NS NS y COSV61720950 COSM4185540 167374395 c.562G>T p.E188* Substitution - Nonsense 38 19:53238165-53238165 - - NEUTRAL .0563 Confirmed somatic variant 24504440 surgery - NOS NS ENSP00000469391.1:p.Glu188Ter ENST00000598513.5:c.562G>T 19:g.53238165C>A OR6C75_ENST00000343399 ENST00000343399.3 939 31304 TCGA-22-A5C4-01 2195159 2063437 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV100595338 COSM8773715 107660423 c.58C>T p.Q20* Substitution - Nonsense 38 12:55365168-55365168 + - NEUTRAL .07233 Confirmed somatic variant 418 NS NS 70 ENSP00000368987.1:p.Gln20Ter ENST00000343399.3:c.58C>T 12:g.55365168C>T RGS6_ENST00000555571 ENST00000555571.5 1419 10002 TCGA-AX-A0J0-01 1783376 1687375 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV59581924 COSM957529 156318934 c.857T>G p.L286* Substitution - Nonsense het 38 14:72495154-72495154 + - PATHOGENIC .99129 Reported in another cancer sample as somatic 419 fresh/frozen - NOS primary 47 ENSP00000450936.1:p.Leu286Ter ENST00000555571.5:c.857T>G 14:g.72495154T>G RGS6_ENST00000555571 ENST00000555571.5 1419 10002 C135 2301958 2167241 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV59566152 COSM3671948 156298382 c.985C>T p.R329* Substitution - Nonsense het 38 14:72510173-72510173 + - PATHOGENIC .86324 Reported in another cancer sample as somatic 24755471 cell-line NS ENSP00000450936.1:p.Arg329Ter ENST00000555571.5:c.985C>T 14:g.72510173C>T SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-A5-A0G9-01 1783305 1687304 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV55017647 COSM1075073 111182333 c.3925C>T p.R1309* Substitution - Nonsense 38 6:152442158-152442158 - - NEUTRAL .11438 Confirmed somatic variant 419 fresh/frozen - NOS primary 79 ENSP00000356222.4:p.Arg1309Ter ENST00000367253.8:c.3925C>T 6:g.152442158G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 PCSI_0082_Pa_X 2121290 1995526 pancreas NS NS NS carcinoma ductal_carcinoma NS NS y COSV54953130 COSM3381366 111176685 c.1096G>T p.E366* Substitution - Nonsense 38 6:152484924-152484924 - - PATHOGENIC .94199 Confirmed somatic variant 382 NS NS ENSP00000356222.4:p.Glu366Ter ENST00000367253.8:c.1096G>T 6:g.152484924C>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 5-NB016-T1 2869816 2724813 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV55017647 COSM1075073 111182333 c.3925C>T p.R1309* Substitution - Nonsense 38 6:152442158-152442158 - - NEUTRAL .11438 Confirmed somatic variant 26950094 surgery fresh/frozen NS 74 ENSP00000356222.4:p.Arg1309Ter ENST00000367253.8:c.3925C>T 6:g.152442158G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 TCGA-E7-A7DV-01 2193219 2061497 urinary_tract bladder NS NS carcinoma NS NS NS y COSV55026497 COSM6218028 111189513 c.1136C>A p.S379* Substitution - Nonsense 38 6:152484884-152484884 - - PATHOGENIC .94747 Confirmed somatic variant 413 NS NS 44 ENSP00000356222.4:p.Ser379Ter ENST00000367253.8:c.1136C>A 6:g.152484884G>T FAM124B ENST00000409685.3 1368 26224 TCGA-AA-3984-01 1651090 1565877 large_intestine colon sigmoid NS carcinoma adenocarcinoma NS NS y COSV101110186 COSM7598091 123076417 c.1354G>T p.E452* Substitution - Nonsense 38 2:224379587-224379587 - - .603 Confirmed somatic variant 376 NS NS 61 ENSP00000386895.3:p.Glu452Ter ENST00000409685.3:c.1354G>T 2:g.224379587C>A ARNTL ENST00000403290.5 1881 701 TCGA-VQ-A8P2-01 2339964 2204947 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV100724712 COSM8220434 121567581 c.907G>T p.E303* Substitution - Nonsense 38 11:13372249-13372249 + - PATHOGENIC .99262 Confirmed somatic variant 541 NS primary 68 ENSP00000384517.1:p.Glu303Ter ENST00000403290.5:c.907G>T 11:g.13372249G>T ACIN1 ENST00000262710.5 4026 17066 255 2146917 2016060 stomach gastroesophageal_junction NS NS carcinoma adenocarcinoma NS NS y COSV52982118 COSM3731847 101548260 c.1621G>T p.G541* Substitution - Nonsense 38 14:23079888-23079888 - - PATHOGENIC .84753 Confirmed somatic variant 24308032 surgery - NOS NS ENSP00000262710.1:p.Gly541Ter ENST00000262710.5:c.1621G>T 14:g.23079888C>A ACIN1 ENST00000262710.5 4026 17066 EXTERN_MELA_20140924_043 2839380 2695146 skin trunk NS NS malignant_melanoma NS NS NS y COSV104583252 COSM9470394 101551636 c.3131G>A p.W1044* Substitution - Nonsense 38 14:23062450-23062450 - - PATHOGENIC .84167 Confirmed somatic variant 28467829 surgery fresh/frozen metastasis ENSP00000262710.1:p.Trp1044Ter ENST00000262710.5:c.3131G>A 14:g.23062450C>T ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 2906640 2906640 2760891 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV105939435 COSM10043384 138595744 c.3727C>T p.Q1243* Substitution - Nonsense 38 3:78627334-78627334 - - PATHOGENIC .9913 Confirmed somatic variant 29616327 surgery-fixed metastasis 70 ENSP00000420637.1:p.Gln1243Ter ENST00000495273.5:c.3727C>T 3:g.78627334G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 APGI-AMP-2713 2866031 2721108 pancreas ampulla_of_Vater NS NS carcinoma ductal_carcinoma NS NS y COSV71392006 COSM4461557 138570101 c.1102C>T p.R368* Substitution - Nonsense 38 3:78685878-78685878 - - PATHOGENIC .9579 Confirmed somatic variant 26804919 surgery fresh/frozen NS ENSP00000420637.1:p.Arg368Ter ENST00000495273.5:c.1102C>T 3:g.78685878G>A FOLR3 ENST00000611028.2 738 3795 TCGA-18-3408-01 1780274 1684273 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV61530146 COSM690803 166310351 c.485G>A p.W162* Substitution - Nonsense 38 11:72139474-72139474 + - PATHOGENIC .9944 Variant of unknown origin 418 fresh/frozen - NOS primary 77 ENSP00000481114.1:p.Trp162Ter ENST00000611028.2:c.485G>A 11:g.72139474G>A OR6C75_ENST00000343399 ENST00000343399.3 939 31304 TCGA-FU-A3HZ-01 2193398 2061676 cervix NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV58551544 COSM4840682 107660377 c.325G>T p.E109* Substitution - Nonsense 38 12:55365435-55365435 + - .65251 Confirmed somatic variant 415 NS NS 64 ENSP00000368987.1:p.Glu109Ter ENST00000343399.3:c.325G>T 12:g.55365435G>T PLD1 ENST00000351298.8 3225 9067 2492702 2492702 2355317 skin NS NS NS malignant_melanoma NS NS NS y COSV60566071 COSM5600235 109075809 c.1414C>T p.Q472* Substitution - Nonsense 38 3:171688801-171688801 - - PATHOGENIC .97589 Confirmed somatic variant 26286987 surgery fresh/frozen metastasis ENSP00000342793.4:p.Gln472Ter ENST00000351298.8:c.1414C>T 3:g.171688801G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 Sample_1 2367134 2229992 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV55086157 COSM4997664 111194449 c.3004C>T p.R1002* Substitution - Nonsense hom 38 6:152453609-152453609 - - NEUTRAL .16467 Confirmed somatic variant 24894453 NS NS ENSP00000356222.4:p.Arg1002Ter ENST00000367253.8:c.3004C>T 6:g.152453609G>A FAM124B ENST00000409685.3 1368 26224 TCGA-2Y-A9HA-01 2386061 2248893 liver NS NS NS carcinoma hepatocellular_carcinoma NS NS y COSV101110156 COSM8411958 123078171 c.775G>T p.G259* Substitution - Nonsense 38 2:224380166-224380166 - - NEUTRAL .12501 Confirmed somatic variant 628 NS primary 70 ENSP00000386895.3:p.Gly259Ter ENST00000409685.3:c.775G>T 2:g.224380166C>A ARNTL ENST00000403290.5 1881 701 AOCS-061-1-8 2196286 2064564 ovary NS NS NS carcinoma mixed_adenosquamous_carcinoma NS NS y COSV62986597 COSM3981411 121570466 c.1280G>A p.W427* Substitution - Nonsense 38 11:13375717-13375717 + - PATHOGENIC .98922 Confirmed somatic variant 585 NS NS ENSP00000384517.1:p.Trp427Ter ENST00000403290.5:c.1280G>A 11:g.13375717G>A ACIN1 ENST00000262710.5 4026 17066 PT33 2521290 2383633 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV52982769 COSM5909356 101546307 c.6G>A p.W2* Substitution - Nonsense 38 14:23095281-23095281 - - NEUTRAL .02537 Confirmed somatic variant 25759019 surgery fresh/frozen NS ENSP00000262710.1:p.Trp2Ter ENST00000262710.5:c.6G>A 14:g.23095281C>T ACIN1 ENST00000262710.5 4026 17066 EXTERN_MELA_20140530_004 2839462 2695228 skin ear NS NS malignant_melanoma NS NS NS y COSV104583316 COSM9469970 101556491 c.5G>A p.W2* Substitution - Nonsense 38 14:23095282-23095282 - - NEUTRAL .3678 Confirmed somatic variant 28467829 surgery fresh/frozen primary ENSP00000262710.1:p.Trp2Ter ENST00000262710.5:c.5G>A 14:g.23095282C>T ACIN1 ENST00000262710.5 4026 17066 TCGA-AG-4009-01 2386373 2249205 large_intestine rectum NS NS carcinoma adenocarcinoma NS NS y COSV99399405 COSM7532886 101546564 c.3511C>T p.R1171* Substitution - Nonsense 38 14:23061385-23061385 - - PATHOGENIC .92628 Confirmed somatic variant 375 NS primary 83 ENSP00000262710.1:p.Arg1171Ter ENST00000262710.5:c.3511C>T 14:g.23061385G>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 CRC159 2730800 2589569 large_intestine colon NS NS carcinoma adenocarcinoma NS NS y COSV99968856 COSM9003635 157532990 c.2332G>T p.E778* Substitution - Nonsense 38 15:44622332-44622332 - - PATHOGENIC .94112 Confirmed somatic variant 26416732 xenograft metastasis 47 ENSP00000453599.1:p.Glu778Ter ENST00000558319.5:c.2332G>T 15:g.44622332C>A MBNL1_ENST00000485509 ENST00000485509.5 1023 6923 TCGA-13-0755-01 1474836 1398535 ovary NS NS NS carcinoma serous_carcinoma NS NS y COSV56830877 COSM79222 137653579 c.83C>G p.S28* Substitution - Nonsense hom 38 3:152300276-152300276 + - PATHOGENIC .95021 Confirmed somatic variant 21720365 331 NS primary 75 ENSP00000418876.1:p.Ser28Ter ENST00000485509.5:c.83C>G 3:g.152300276C>G SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 S02268 2864375 2719535 lung NS NS NS carcinoma large_cell_neuroendocrine_carcinoma NS NS y COSV105031890 COSM9606613 111199040 c.4265C>A p.S1422* Substitution - Nonsense 38 6:152435986-152435986 - - PATHOGENIC .98888 Confirmed somatic variant 29535388 surgery fresh/frozen NS 77 ENSP00000356222.4:p.Ser1422Ter ENST00000367253.8:c.4265C>A 6:g.152435986G>T FAM124B ENST00000409685.3 1368 26224 TCGA-61-2110-01 1475045 1398744 ovary NS NS NS carcinoma serous_carcinoma NS NS y COSV66271281 COSM78942 123076930 c.364C>T p.Q122* Substitution - Nonsense het 38 2:224401405-224401405 - - PATHOGENIC .80142 Confirmed somatic variant 21720365 331 NS primary 56 ENSP00000386895.3:p.Gln122Ter ENST00000409685.3:c.364C>T 2:g.224401405G>A ARNTL ENST00000403290.5 1881 701 sysucc-1370T 2456725 2319562 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV62985982 COSM5469545 121570654 c.712C>T p.R238* Substitution - Nonsense 38 11:13369659-13369659 + - .68851 Confirmed somatic variant 646 NS primary 78 ENSP00000384517.1:p.Arg238Ter ENST00000403290.5:c.712C>T 11:g.13369659C>T ACIN1 ENST00000262710.5 4026 17066 2857091 2857091 2712391 urinary_tract bladder NS NS carcinoma transitional_cell_carcinoma NS NS y COSV105009302 COSM9523806 101549405 c.217C>T p.Q73* Substitution - Nonsense 38 14:23095070-23095070 - - .66095 Confirmed somatic variant 25096233 surgery - NOS NS ENSP00000262710.1:p.Gln73Ter ENST00000262710.5:c.217C>T 14:g.23095070G>A ACIN1 ENST00000262710.5 4026 17066 H2073 2776259 2634395 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV52983766 COSM2031059 101550589 c.3739G>T p.E1247* Substitution - Nonsense 38 14:23059435-23059435 - - PATHOGENIC .84196 Confirmed somatic variant 29681454 NS NS 47 ENSP00000262710.1:p.Glu1247Ter ENST00000262710.5:c.3739G>T 14:g.23059435C>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 TCGA-CA-6717-01 1651188 1565975 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS y COSV56001480 COSM1373105 157524694 c.4090G>T p.E1364* Substitution - Nonsense 38 15:44596855-44596855 - - PATHOGENIC .82242 Confirmed somatic variant 376 NS NS 57 ENSP00000453599.1:p.Glu1364Ter ENST00000558319.5:c.4090G>T 15:g.44596855C>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 TCGA-AJ-A5DW-01 2263048 2130032 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV99968740 COSM9016181 157531878 c.3775G>T p.E1259* Substitution - Nonsense 38 15:44598748-44598748 - - PATHOGENIC .98082 Confirmed somatic variant 419 NS primary 56 ENSP00000453599.1:p.Glu1259Ter ENST00000558319.5:c.3775G>T 15:g.44598748C>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 CSCC-10-T 2292461 2158525 skin head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV56002210 COSM4538555 157524923 c.2568G>A p.W856* Substitution - Nonsense het 38 15:44621811-44621811 - - PATHOGENIC .96736 Confirmed somatic variant 25303977 surgery fresh/frozen primary 76 ENSP00000453599.1:p.Trp856Ter ENST00000558319.5:c.2568G>A 15:g.44621811C>T FOLR3 ENST00000611028.2 738 3795 TCGA-EY-A1GI-01 2198283 2066561 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV100281818 COSM8825701 166309067 c.610C>T p.R204* Substitution - Nonsense 38 11:72139703-72139703 + - NEUTRAL .02853 Confirmed somatic variant 419 NS NS 52 ENSP00000481114.1:p.Arg204Ter ENST00000611028.2:c.610C>T 11:g.72139703C>T FOLR3 ENST00000611028.2 738 3795 TCGA-AC-A23H-01 2187848 2056126 breast NS NS NS carcinoma NS NS NS y COSV61529767 COSM3810361 166309662 c.491C>G p.S164* Substitution - Nonsense 38 11:72139480-72139480 + - PATHOGENIC .96119 Confirmed somatic variant 414 NS NS 90 ENSP00000481114.1:p.Ser164Ter ENST00000611028.2:c.491C>G 11:g.72139480C>G OR6C75_ENST00000343399 ENST00000343399.3 939 31304 TCGA-EE-A2MD-06 2121676 1995912 skin NS NS NS malignant_melanoma NS NS NS y COSV58553720 COSM3463039 107660361 c.691C>T p.Q231* Substitution - Nonsense 38 12:55365801-55365801 + - NEUTRAL .12494 Confirmed somatic variant 540 NS NS 52 ENSP00000368987.1:p.Gln231Ter ENST00000343399.3:c.691C>T 12:g.55365801C>T OR6C75_ENST00000343399 ENST00000343399.3 939 31304 TCGA-UY-A78P-01 2385778 2248610 urinary_tract bladder NS NS carcinoma NS NS NS y COSV100595463 COSM7639575 107659710 c.146C>G p.S49* Substitution - Nonsense 38 12:55365256-55365256 + - NEUTRAL .03211 Confirmed somatic variant 413 NS primary 78 ENSP00000368987.1:p.Ser49Ter ENST00000343399.3:c.146C>G 12:g.55365256C>G PLD1 ENST00000351298.8 3225 9067 TCGA-YG-AA3N-01 2339750 2204733 skin NS NS NS malignant_melanoma NS NS NS y COSV60572332 COSM3590230 109077747 c.3094C>T p.R1032* Substitution - Nonsense 38 3:171603209-171603209 - - .6415 Confirmed somatic variant 540 NS primary 67 ENSP00000342793.4:p.Arg1032Ter ENST00000351298.8:c.3094C>T 3:g.171603209G>A SYNE1_ENST00000367253 ENST00000367253.8 5178 17089 8066464 2197111 2065389 pancreas NS NS NS carcinoma ductal_carcinoma NS NS y COSV55017647 COSM1075073 111182333 c.3925C>T p.R1309* Substitution - Nonsense 38 6:152442158-152442158 - - NEUTRAL .11438 Confirmed somatic variant 328 NS NS ENSP00000356222.4:p.Arg1309Ter ENST00000367253.8:c.3925C>T 6:g.152442158G>A FAM124B ENST00000409685.3 1368 26224 CRC_46 2872790 2727784 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV105843963 COSM9941689 123079143 c.487G>T p.E163* Substitution - Nonsense 38 2:224401282-224401282 - - PATHOGENIC .75639 Confirmed somatic variant 30239619 surgery - NOS NS ENSP00000386895.3:p.Glu163Ter ENST00000409685.3:c.487G>T 2:g.224401282C>A ARNTL ENST00000403290.5 1881 701 TCGA-AX-A06F-01 2198328 2066606 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV100724844 COSM8936464 121570994 c.1147G>T p.G383* Substitution - Nonsense 38 11:13374174-13374174 + - PATHOGENIC .96195 Confirmed somatic variant 419 NS NS 59 ENSP00000384517.1:p.Gly383Ter ENST00000403290.5:c.1147G>T 11:g.13374174G>T ACIN1 ENST00000262710.5 4026 17066 PD18264a 2040220 1921402 breast NS NS NS carcinoma ductal_carcinoma NS NS y COSV52982169 COSM5773986 101556262 c.3559G>T p.E1187* Substitution - Nonsense 38 14:23061337-23061337 - - PATHOGENIC .96021 Confirmed somatic variant 652 NS NS ENSP00000262710.1:p.Glu1187Ter ENST00000262710.5:c.3559G>T 14:g.23061337C>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 T_CCA_TH_11 2688097 2547079 biliary_tract bile_duct NS NS carcinoma NS NS NS y COSV71394822 COSM6860392 138615800 c.4369G>T p.E1457* Substitution - Nonsense 38 3:78606973-78606973 - - PATHOGENIC .98567 Confirmed somatic variant 653 NS primary 79 ENSP00000420637.1:p.Glu1457Ter ENST00000495273.5:c.4369G>T 3:g.78606973C>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 TCGA-PE-A5DE-01 2386129 2248961 breast NS NS NS carcinoma NS NS NS y COSV55990213 COSM6077471 157527519 c.6079C>T p.Q2027* Substitution - Nonsense 38 15:44573673-44573673 - - PATHOGENIC .89234 Confirmed somatic variant 414 NS primary 41 ENSP00000453599.1:p.Gln2027Ter ENST00000558319.5:c.6079C>T 15:g.44573673G>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 TCGA-19-5956-01 2178192 2046490 central_nervous_system brain NS NS glioma astrocytoma_Grade_IV glioblastoma_multiforme NS y COSV99969074 COSM7469592 157531963 c.255G>A p.W85* Substitution - Nonsense 38 15:44663393-44663393 - - NEUTRAL .3452 Confirmed somatic variant 329 NS NS 53 ENSP00000453599.1:p.Trp85Ter ENST00000558319.5:c.255G>A 15:g.44663393C>T FOLR3 ENST00000611028.2 738 3795 TCGA-EY-A1GO-01 2198380 2066658 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV100281789 COSM9063697 166309571 c.16C>T p.Q6* Substitution - Nonsense 38 11:72135968-72135968 + - NEUTRAL .04278 Confirmed somatic variant 419 NS NS 65 ENSP00000481114.1:p.Gln6Ter ENST00000611028.2:c.16C>T 11:g.72135968C>T OR6C75_ENST00000343399 ENST00000343399.3 939 31304 EXTERN_MELA_20140514_010 2839311 2695077 skin lower_leg NS NS malignant_melanoma NS NS NS y COSV58553720 COSM3463039 107660361 c.691C>T p.Q231* Substitution - Nonsense 38 12:55365801-55365801 + - NEUTRAL .12494 Confirmed somatic variant 28467829 surgery fresh/frozen metastasis ENSP00000368987.1:p.Gln231Ter ENST00000343399.3:c.691C>T 12:g.55365801C>T OR6C75_ENST00000343399 ENST00000343399.3 939 31304 Patient_1 2443644 2306483 haematopoietic_and_lymphoid_tissue skin NS NS lymphoid_neoplasm mycosis_fungoides-Sezary_syndrome NS NS y COSV58553255 COSM5414074 107659654 c.700A>T p.K234* Substitution - Nonsense 38 12:55365810-55365810 + - PATHOGENIC .99331 Confirmed somatic variant 26082451 surgery fresh/frozen NS 70 ENSP00000368987.1:p.Lys234Ter ENST00000343399.3:c.700A>T 12:g.55365810A>T RGS6_ENST00000555571 ENST00000555571.5 1419 10002 TCGA-HC-7075-01 2121474 1995710 prostate NS NS NS carcinoma adenocarcinoma NS NS y COSV59566152 COSM3671948 156298382 c.985C>T p.R329* Substitution - Nonsense 38 14:72510173-72510173 + - PATHOGENIC .86324 Confirmed somatic variant 435 NS NS 63 ENSP00000450936.1:p.Arg329Ter ENST00000555571.5:c.985C>T 14:g.72510173C>T DEPDC1 ENST00000456315.6 2436 22949 SNU-175 2302007 2167290 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV63958573 COSM2240623 132979907 c.421C>T p.R141* Substitution - Nonsense het 38 1:68489502-68489502 - - PATHOGENIC .92046 Variant of unknown origin 24755471 cell-line NS ENSP00000412292.2:p.Arg141Ter ENST00000456315.6:c.421C>T 1:g.68489502G>A ACIN1 ENST00000262710.5 4026 17066 TCGA-JW-A5VJ-01 2262734 2129718 cervix NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV52975759 COSM2031103 101549644 c.2935C>T p.R979* Substitution - Nonsense 38 14:23063051-23063051 - - PATHOGENIC .86658 Confirmed somatic variant 415 NS primary 56 ENSP00000262710.1:p.Arg979Ter ENST00000262710.5:c.2935C>T 14:g.23063051G>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 LP6008031-DNA_B03 2789512 2646735 oesophagus NS NS NS carcinoma adenocarcinoma NS NS y COSV99968282 COSM7843222 157522584 c.3036C>A p.Y1012* Substitution - Nonsense 38 15:44615365-44615365 - - PATHOGENIC .95558 Confirmed somatic variant 535 NS primary 60 ENSP00000453599.1:p.Tyr1012Ter ENST00000558319.5:c.3036C>A 15:g.44615365G>T PLD1 ENST00000351298.8 3225 9067 TCGA-MT-A67D-01 2193694 2061972 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV100577933 COSM8271787 109071036 c.2621C>A p.S874* Substitution - Nonsense 38 3:171620493-171620493 - - PATHOGENIC .99421 Confirmed somatic variant 627 NS NS 55 ENSP00000342793.4:p.Ser874Ter ENST00000351298.8:c.2621C>A 3:g.171620493G>T PLD1 ENST00000351298.8 3225 9067 11-028L1 2575189 2436526 prostate NS NS NS carcinoma adenocarcinoma NS NS y COSV60566573 COSM5994717 109075740 c.2431G>T p.E811* Substitution - Nonsense 38 3:171645022-171645022 - - PATHOGENIC .975 Confirmed somatic variant 26928463 autopsy - NOS metastasis 57 ENSP00000342793.4:p.Glu811Ter ENST00000351298.8:c.2431G>T 3:g.171645022C>A DEPDC1 ENST00000456315.6 2436 22949 TCGA-D1-A17Q-01 1783533 1687532 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV63957621 COSM911902 132980158 c.1954C>T p.R652* Substitution - Nonsense het 38 1:68479302-68479302 - - PATHOGENIC .95787 Reported in another cancer sample as somatic 419 fresh/frozen - NOS primary 54 ENSP00000412292.2:p.Arg652Ter ENST00000456315.6:c.1954C>T 1:g.68479302G>A DEPDC1 ENST00000456315.6 2436 22949 PT14_1 2521266 2383609 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV63958665 COSM5896529 132984850 c.79G>T p.G27* Substitution - Nonsense 38 1:68494665-68494665 - - PATHOGENIC .99269 Confirmed somatic variant 25759019 surgery fresh/frozen NS ENSP00000412292.2:p.Gly27Ter ENST00000456315.6:c.79G>T 1:g.68494665C>A ARNTL ENST00000403290.5 1881 701 TCGA-AA-3842-01 1651045 1565832 large_intestine colon sigmoid NS carcinoma adenocarcinoma NS NS y COSV62986699 COSM6605093 121566913 c.280G>T p.E94* Substitution - Nonsense 38 11:13358492-13358492 + - PATHOGENIC .98425 Confirmed somatic variant 376 NS NS 51 ENSP00000384517.1:p.Glu94Ter ENST00000403290.5:c.280G>T 11:g.13358492G>T ARNTL ENST00000403290.5 1881 701 T229707 2658522 2518681 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV62986699 COSM6605093 121566913 c.280G>T p.E94* Substitution - Nonsense 38 11:13358492-13358492 + - PATHOGENIC .98425 Confirmed somatic variant 27149842 NS NS 67.91 ENSP00000384517.1:p.Glu94Ter ENST00000403290.5:c.280G>T 11:g.13358492G>T ACIN1 ENST00000262710.5 4026 17066 587282 1766768 1671088 large_intestine colon NS NS carcinoma adenocarcinoma NS NS y COSV52976083 COSM1181594 101546713 c.332T>A p.L111* Substitution - Nonsense 38 14:23093525-23093525 - - PATHOGENIC .98594 Confirmed somatic variant 22895193 surgery fresh/frozen primary ENSP00000262710.1:p.Leu111Ter ENST00000262710.5:c.332T>A 14:g.23093525A>T ACIN1 ENST00000262710.5 4026 17066 17 2766255 2624491 salivary_gland parotid NS NS carcinoma mucoepidermoid_carcinoma NS NS y COSV52974471 COSM4775764 101547560 c.793C>T p.R265* Substitution - Nonsense 38 14:23080716-23080716 - - PATHOGENIC .79342 Confirmed somatic variant 27340278 surgery-fixed NS 52 ENSP00000262710.1:p.Arg265Ter ENST00000262710.5:c.793C>T 14:g.23080716G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 PT48 2521305 2383648 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV71391881 COSM4654877 138558848 c.2359C>T p.R787* Substitution - Nonsense 38 3:78657245-78657245 - - PATHOGENIC .923 Confirmed somatic variant 25759019 surgery fresh/frozen NS ENSP00000420637.1:p.Arg787Ter ENST00000495273.5:c.2359C>T 3:g.78657245G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 Patient_1 2443644 2306483 haematopoietic_and_lymphoid_tissue skin NS NS lymphoid_neoplasm mycosis_fungoides-Sezary_syndrome NS NS y COSV71396939 COSM3824658 138567306 c.2616G>A p.W872* Substitution - Nonsense 38 3:78651820-78651820 - - PATHOGENIC .9824 Confirmed somatic variant 26082451 surgery fresh/frozen NS 70 ENSP00000420637.1:p.Trp872Ter ENST00000495273.5:c.2616G>A 3:g.78651820C>T SPG11_ENST00000558319 ENST00000558319.5 6240 11226 sysucc-311T 2456736 2319573 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV56003926 COSM5478891 157531186 c.2587G>T p.E863* Substitution - Nonsense 38 15:44621792-44621792 - - PATHOGENIC .98681 Confirmed somatic variant 646 NS primary 54 ENSP00000453599.1:p.Glu863Ter ENST00000558319.5:c.2587G>T 15:g.44621792C>A FOLR3 ENST00000611028.2 738 3795 TCGA-CV-A6K2-01 2339271 2204254 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV100281853 COSM8351485 166310420 c.428G>A p.W143* Substitution - Nonsense 38 11:72139417-72139417 + - PATHOGENIC .78065 Confirmed somatic variant 627 NS primary 79 ENSP00000481114.1:p.Trp143Ter ENST00000611028.2:c.428G>A 11:g.72139417G>A TBL1X_ENST00000424279 ENST00000424279.5 1581 11585 TCGA-AJ-A3EK-01 2198284 2066562 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV99482273 COSM7659301 126372771 c.1509G>A p.W503* Substitution - Nonsense 38 23:9714958-9714958 + - PATHOGENIC .98403 Confirmed somatic variant 419 NS NS 53 ENSP00000394097.1:p.Trp503Ter ENST00000424279.5:c.1509G>A X:g.9714958G>A DEPDC1 ENST00000456315.6 2436 22949 TCGA-CV-A45W-01 2339585 2204568 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV100920450 COSM8348439 132982261 c.2185G>T p.E729* Substitution - Nonsense 38 1:68477900-68477900 - - PATHOGENIC .98916 Confirmed somatic variant 627 NS primary 75 ENSP00000412292.2:p.Glu729Ter ENST00000456315.6:c.2185G>T 1:g.68477900C>A DEPDC1 ENST00000456315.6 2436 22949 PT21_2 2521276 2383619 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV63958633 COSM5901022 132982220 c.1450A>T p.K484* Substitution - Nonsense 38 1:68482358-68482358 - - PATHOGENIC .9516 Confirmed somatic variant 25759019 surgery fresh/frozen NS ENSP00000412292.2:p.Lys484Ter ENST00000456315.6:c.1450A>T 1:g.68482358T>A DEPDC1 ENST00000456315.6 2436 22949 EXTERN_MELA_20140924_076 2839389 2695155 skin scalp NS NS malignant_melanoma NS NS NS y COSV104676842 COSM9421741 132982058 c.2326C>T p.Q776* Substitution - Nonsense 38 1:68477042-68477042 - - PATHOGENIC .88034 Confirmed somatic variant 28467829 surgery fresh/frozen primary ENSP00000412292.2:p.Gln776Ter ENST00000456315.6:c.2326C>T 1:g.68477042G>A ARNTL ENST00000403290.5 1881 701 10M 2549423 2410878 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV62985543 COSM7279002 121567726 c.241G>T p.E81* Substitution - Nonsense 38 11:13358453-13358453 + - PATHOGENIC .99848 Confirmed somatic variant 646 NS metastasis 56 ENSP00000384517.1:p.Glu81Ter ENST00000403290.5:c.241G>T 11:g.13358453G>T ACIN1 ENST00000262710.5 4026 17066 SJHYPO044-D 2590135 2451265 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm acute_lymphoblastic_leukaemia NS NS y COSV52974471 COSM4775764 101547560 c.793C>T p.R265* Substitution - Nonsense 38 14:23080716-23080716 - - PATHOGENIC .79342 Confirmed somatic variant 23334668 blood-bone marrow NS 12.8 ENSP00000262710.1:p.Arg265Ter ENST00000262710.5:c.793C>T 14:g.23080716G>A ACIN1 ENST00000262710.5 4026 17066 5-VS037-T7 2869867 2724864 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV105009291 COSM9654116 101555216 c.3816_3817delinsTT p.R1273* Substitution - Nonsense 38 14:23059357-23059358 - - Confirmed somatic variant 26950094 surgery fresh/frozen NS 83 ENSP00000262710.1:p.Arg1273Ter ENST00000262710.5:c.3816_3817delinsTT 14:g.23059357_23059358delinsAA ACIN1 ENST00000262710.5 4026 17066 TCGA-HW-7490-01 2194350 2062628 central_nervous_system brain NS NS glioma NS NS NS y COSV99400150 COSM8259716 101548207 c.2141C>A p.S714* Substitution - Nonsense 38 14:23078860-23078860 - - PATHOGENIC .73808 Confirmed somatic variant 545 NS NS 41 ENSP00000262710.1:p.Ser714Ter ENST00000262710.5:c.2141C>A 14:g.23078860G>T ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-AJ-A3EL-01 2198271 2066549 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV71396484 COSM2827287 138568109 c.4153C>T p.R1385* Substitution - Nonsense 38 3:78614795-78614795 - - PATHOGENIC .86771 Confirmed somatic variant 419 NS NS 47 ENSP00000420637.1:p.Arg1385Ter ENST00000495273.5:c.4153C>T 3:g.78614795G>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 5-VS037-T3 2869864 2724861 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV105072524 COSM9764297 157523215 c.3323T>A p.L1108* Substitution - Nonsense 38 15:44608574-44608574 - - PATHOGENIC .94921 Confirmed somatic variant 26950094 surgery fresh/frozen NS 83 ENSP00000453599.1:p.Leu1108Ter ENST00000558319.5:c.3323T>A 15:g.44608574A>T COX6B2_ENST00000589467 ENST00000589467.1 267 24380 2834130 2834130 2689914 skin mucosal anorectal NS malignant_melanoma NS NS NS y COSV104639028 COSM9319858 164260731 c.168C>A p.C56* Substitution - Nonsense 38 19:55353911-55353911 - - .62589 Variant of unknown origin 28296713 surgery - NOS primary 59 ENSP00000476768.1:p.Cys56Ter ENST00000589467.1:c.168C>A 19:g.55353911G>T TBL1X_ENST00000424279 ENST00000424279.5 1581 11585 TCGA-UY-A78K-01 2385773 2248605 urinary_tract bladder NS NS carcinoma NS NS NS y COSV99482273 COSM7659301 126372771 c.1509G>A p.W503* Substitution - Nonsense 38 23:9714958-9714958 + - PATHOGENIC .98403 Confirmed somatic variant 413 NS primary 60 ENSP00000394097.1:p.Trp503Ter ENST00000424279.5:c.1509G>A X:g.9714958G>A DEPDC1 ENST00000456315.6 2436 22949 BC39-ctDNA 2668127 2527746 breast NS NS NS carcinoma NS NS NS y COSV63958614 COSM6845004 132984546 c.1027G>T p.E343* Substitution - Nonsense het 38 1:68482781-68482781 - - PATHOGENIC .98706 Confirmed somatic variant 27535334 circulating tumour metastasis ENSP00000412292.2:p.Glu343Ter ENST00000456315.6:c.1027G>T 1:g.68482781C>A ARNTL ENST00000403290.5 1881 701 B104-0-Tumor 2186190 2054487 urinary_tract bladder NS NS carcinoma NS NS NS y COSV62985710 COSM1746145 121568373 c.358C>T p.Q120* Substitution - Nonsense 38 11:13358570-13358570 + - PATHOGENIC .97898 Confirmed somatic variant 581 NS NS ENSP00000384517.1:p.Gln120Ter ENST00000403290.5:c.358C>T 11:g.13358570C>T ARNTL ENST00000403290.5 1881 701 TCGA-D3-A2JF-06 2121517 1995753 skin NS NS NS malignant_melanoma NS NS NS y COSV62985315 COSM3445487 121571011 c.826C>T p.R276* Substitution - Nonsense 38 11:13372168-13372168 + - PATHOGENIC .99593 Confirmed somatic variant 540 NS NS 74 ENSP00000384517.1:p.Arg276Ter ENST00000403290.5:c.826C>T 11:g.13372168C>T ACIN1 ENST00000262710.5 4026 17066 TCGA-EK-A3GK-01 2263412 2130396 cervix NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV52982363 COSM7323622 101552781 c.3170C>G p.S1057* Substitution - Nonsense 38 14:23062271-23062271 - - .57809 Confirmed somatic variant 415 NS primary 33 ENSP00000262710.1:p.Ser1057Ter ENST00000262710.5:c.3170C>G 14:g.23062271G>C ACIN1 ENST00000262710.5 4026 17066 TCGA-58-A46M-01 2195109 2063387 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99399698 COSM8732675 101552319 c.3484G>T p.E1162* Substitution - Nonsense 38 14:23061412-23061412 - - PATHOGENIC .97378 Confirmed somatic variant 418 NS NS 61 ENSP00000262710.1:p.Glu1162Ter ENST00000262710.5:c.3484G>T 14:g.23061412C>A ACIN1 ENST00000262710.5 4026 17066 Case_1-Relapse 2730736 2589506 skin NS NS NS malignant_melanoma NS NS NS y COSV52972923 COSM7337652 101548650 c.376C>T p.Q126* Substitution - Nonsense 38 14:23093481-23093481 - - PATHOGENIC .98581 Confirmed somatic variant 27433843 surgery fresh/frozen recurrent 58 ENSP00000262710.1:p.Gln126Ter ENST00000262710.5:c.376C>T 14:g.23093481G>A ACIN1 ENST00000262710.5 4026 17066 T55 2296253 2161856 large_intestine colon transverse NS carcinoma adenocarcinoma NS NS y COSV52980717 COSM4658823 101547371 c.3106G>T p.G1036* Substitution - Nonsense 38 14:23062475-23062475 - - PATHOGENIC .90341 Confirmed somatic variant 25344691 NS NS 62.16 ENSP00000262710.1:p.Gly1036Ter ENST00000262710.5:c.3106G>T 14:g.23062475C>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 HUB-02-B2-096 2607138 2466850 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV71397059 COSM6035983 138561571 c.4783G>T p.E1595* Substitution - Nonsense 38 3:78600136-78600136 - - PATHOGENIC .98744 Confirmed somatic variant 670 organoid culture NS ENSP00000420637.1:p.Glu1595Ter ENST00000495273.5:c.4783G>T 3:g.78600136C>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 W28T 2745052 2603755 thyroid NS NS NS carcinoma NS NS NS y COSV55993162 COSM6366338 157525465 c.2872G>T p.E958* Substitution - Nonsense 38 15:44615529-44615529 - - PATHOGENIC .97729 Confirmed somatic variant 676 NS primary 32 ENSP00000453599.1:p.Glu958Ter ENST00000558319.5:c.2872G>T 15:g.44615529C>A MAN1A1 ENST00000368468.3 1962 6821 TCGA-55-7907-01 1914028 1802310 lung right_upper_lobe NS NS carcinoma adenocarcinoma NS NS y COSV63784126 COSM6172010 111613091 c.409G>T p.E137* Substitution - Nonsense 38 6:119348657-119348657 - - PATHOGENIC .98748 Variant of unknown origin 417 fresh/frozen - NOS primary 77 ENSP00000357453.3:p.Glu137Ter ENST00000368468.3:c.409G>T 6:g.119348657C>A TBL1X_ENST00000424279 ENST00000424279.5 1581 11585 TCGA-VQ-A91E-01 2339756 2204739 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV99482670 COSM8191478 126378343 c.1516C>T p.R506* Substitution - Nonsense 38 23:9714965-9714965 + - PATHOGENIC .76006 Confirmed somatic variant 541 NS primary 67 ENSP00000394097.1:p.Arg506Ter ENST00000424279.5:c.1516C>T X:g.9714965C>T TBL1X_ENST00000424279 ENST00000424279.5 1581 11585 5-VS017-T1 2869837 2724834 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV99483009 COSM8042181 126373564 c.735G>A p.W245* Substitution - Nonsense 38 23:9692251-9692251 + - PATHOGENIC .98377 Confirmed somatic variant 26950094 surgery fresh/frozen NS 90 ENSP00000394097.1:p.Trp245Ter ENST00000424279.5:c.735G>A X:g.9692251G>A DEPDC1 ENST00000456315.6 2436 22949 TCGA-BS-A0UF-01 1783473 1687472 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV100920237 COSM9010540 132980928 c.73C>T p.R25* Substitution - Nonsense 38 1:68494671-68494671 - - PATHOGENIC .98649 Confirmed somatic variant 419 fresh/frozen - NOS primary 65 ENSP00000412292.2:p.Arg25Ter ENST00000456315.6:c.73C>T 1:g.68494671G>A IP6K2_ENST00000449610 ENST00000449610.5 393 17313 sysucc-1317T 2456722 2319559 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV60793484 COSN14069687 129849661 c.238C>T p.R80* Substitution - Nonsense 38 3:48695054-48695054 - - NEUTRAL .03648 Confirmed somatic variant 646 NS primary 55 ENSP00000393077.1:p.Arg80Ter ENST00000449610.5:c.238C>T 3:g.48695054G>A IP6K2_ENST00000449610 ENST00000449610.5 393 17313 T1849 2658271 2518430 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV60793484 COSN14069687 129849661 c.238C>T p.R80* Substitution - Nonsense 38 3:48695054-48695054 - - NEUTRAL .03648 Confirmed somatic variant 27149842 NS NS 79.25 ENSP00000393077.1:p.Arg80Ter ENST00000449610.5:c.238C>T 3:g.48695054G>A ARNTL ENST00000403290.5 1881 701 CG50 2816752 2673103 large_intestine colon sigmoid NS carcinoma adenocarcinoma NS NS y COSV62985016 COSM4607507 121566609 c.1189G>T p.E397* Substitution - Nonsense 38 11:13375626-13375626 + - PATHOGENIC .99063 Confirmed somatic variant 29937994 surgery fresh/frozen NS 59 ENSP00000384517.1:p.Glu397Ter ENST00000403290.5:c.1189G>T 11:g.13375626G>T SPG11_ENST00000558319 ENST00000558319.5 6240 11226 LP6005409-DNA_C02 2549480 2410935 oesophagus NS NS NS carcinoma adenocarcinoma NS NS y COSV56003681 COSM5952462 157532831 c.3121C>T p.R1041* Substitution - Nonsense 38 15:44613454-44613454 - - PATHOGENIC .98307 Confirmed somatic variant 535 NS primary ENSP00000453599.1:p.Arg1041Ter ENST00000558319.5:c.3121C>T 15:g.44613454G>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 B96 2097342 1975406 urinary_tract bladder NS NS carcinoma transitional_cell_carcinoma NS NS y COSV55999873 COSM1749168 157526345 c.2737C>T p.Q913* Substitution - Nonsense 38 15:44620287-44620287 - - NEUTRAL .37279 Confirmed somatic variant 24121792 fresh/frozen - NOS NS ENSP00000453599.1:p.Gln913Ter ENST00000558319.5:c.2737C>T 15:g.44620287G>A MAN1A1 ENST00000368468.3 1962 6821 UPCI:SCC090 2296310 2161913 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV63786753 COSM3170944 111611605 c.1195G>T p.G399* Substitution - Nonsense 38 6:119201269-119201269 - - PATHOGENIC .98744 Variant of unknown origin 25275298 cell-line NS 46 ENSP00000357453.3:p.Gly399Ter ENST00000368468.3:c.1195G>T 6:g.119201269C>A MBNL1_ENST00000485509 ENST00000485509.5 1023 6923 TCGA-KQ-A41N-01 2457399 2320236 urinary_tract bladder NS NS carcinoma NS NS NS y COSV99219750 COSM7655595 137658203 c.167C>A p.S56* Substitution - Nonsense 38 3:152300360-152300360 + - PATHOGENIC .97674 Confirmed somatic variant 413 NS primary 73 ENSP00000418876.1:p.Ser56Ter ENST00000485509.5:c.167C>A 3:g.152300360C>A DEPDC1 ENST00000456315.6 2436 22949 EXTERN_MELA_20140505_038 2839416 2695182 skin ear NS NS malignant_melanoma NS NS NS y COSV104676847 COSM9416778 132981905 c.469C>T p.Q157* Substitution - Nonsense 38 1:68489454-68489454 - - PATHOGENIC .93651 Confirmed somatic variant 28467829 surgery fresh/frozen recurrent ENSP00000412292.2:p.Gln157Ter ENST00000456315.6:c.469C>T 1:g.68489454G>A AICDA_ENST00000537228 ENST00000537228.5 567 13203 H1734 2776245 2634381 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV57563464 COSM1994684 153841059 c.84C>G p.Y28* Substitution - Nonsense 38 12:8606937-8606937 - - PATHOGENIC .894 Variant of unknown origin 29681454 NS NS 56 ENSP00000445691.1:p.Tyr28Ter ENST00000537228.5:c.84C>G 12:g.8606937G>C AICDA_ENST00000537228 ENST00000537228.5 567 13203 2834146 2834146 2689930 skin mucosal nasopharynx NS malignant_melanoma NS NS NS y COSV104565409 COSM9332193 153839052 c.457G>T p.E153* Substitution - Nonsense 38 12:8604863-8604863 - - PATHOGENIC .97154 Variant of unknown origin 28296713 surgery - NOS primary 83 ENSP00000445691.1:p.Glu153Ter ENST00000537228.5:c.457G>T 12:g.8604863C>A TBL1X_ENST00000424279 ENST00000424279.5 1581 11585 S02347_1 2480908 2343653 lung NS NS NS carcinoma small_cell_carcinoma NS NS y COSV54286948 COSM5694410 126371416 c.496G>T p.E166* Substitution - Nonsense 38 23:9691611-9691611 + - PATHOGENIC .9952 Confirmed somatic variant 26168399 surgery fresh/frozen metastasis 67 ENSP00000394097.1:p.Glu166Ter ENST00000424279.5:c.496G>T X:g.9691611G>T AICDA_ENST00000537228 ENST00000537228.5 567 13203 ESCC02-T3 2645792 2506013 oesophagus NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV57563386 COSM3968479 153838729 c.295C>T p.R99* Substitution - Nonsense 38 12:8605347-8605347 - - NEUTRAL .07748 Confirmed somatic variant 27749841 surgery fresh/frozen primary 76 ENSP00000445691.1:p.Arg99Ter ENST00000537228.5:c.295C>T 12:g.8605347G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-EE-A3AD-06 2121695 1995931 skin NS NS NS malignant_melanoma NS NS NS y COSV101458409 COSM7963228 138560401 c.1813G>T p.G605* Substitution - Nonsense 38 3:78667928-78667928 - - PATHOGENIC .98706 Confirmed somatic variant 540 NS NS 50 ENSP00000420637.1:p.Gly605Ter ENST00000495273.5:c.1813G>T 3:g.78667928C>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 PD4937a 1456090 1380063 breast NS NS NS carcinoma HER-positive_carcinoma NS NS y COSV56003516 COSM164563 157526602 c.2971C>T p.Q991* Substitution - Nonsense 38 15:44615430-44615430 - - PATHOGENIC .89937 Confirmed somatic variant 385 NS primary ENSP00000453599.1:p.Gln991Ter ENST00000558319.5:c.2971C>T 15:g.44615430G>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 PD4937a 1456090 1380063 breast NS NS NS carcinoma HER-positive_carcinoma NS NS y COSV56003516 COSM164563 157526602 c.2971C>T p.Q991* Substitution - Nonsense 38 15:44615430-44615430 - - PATHOGENIC .89937 Confirmed somatic variant 22722201 385 NS primary ENSP00000453599.1:p.Gln991Ter ENST00000558319.5:c.2971C>T 15:g.44615430G>A MAN1A1 ENST00000368468.3 1962 6821 2834136 2834136 2689920 skin mucosal female_genital_tract_(site_indeterminate) NS malignant_melanoma NS NS NS y COSV100870608 COSM7674203 111604860 c.1507G>T p.E503* Substitution - Nonsense 38 6:119189703-119189703 - - PATHOGENIC .98849 Reported in another cancer sample as somatic 28296713 surgery - NOS primary 66 ENSP00000357453.3:p.Glu503Ter ENST00000368468.3:c.1507G>T 6:g.119189703C>A MAN1A1 ENST00000368468.3 1962 6821 Pat_66_A 2492905 2355519 NS NS NS NS malignant_melanoma NS NS NS y COSV63786768 COSM5869203 111605399 c.1700_1701delinsAA p.W567* Substitution - Nonsense 38 6:119188423-119188424 - - Confirmed somatic variant 24265153 surgery-fixed NS 71 ENSP00000357453.3:p.Trp567Ter ENST00000368468.3:c.1700_1701delinsAA 6:g.119188423_119188424delinsTT MBNL1_ENST00000485509 ENST00000485509.5 1023 6923 TCGA-D3-A3CE-06 2121533 1995769 skin NS NS NS malignant_melanoma NS NS NS y COSV99220965 COSM7927116 137656311 c.958G>T p.G320* Substitution - Nonsense 38 3:152458185-152458185 + - PATHOGENIC .82906 Confirmed somatic variant 540 NS NS 74 ENSP00000418876.1:p.Gly320Ter ENST00000485509.5:c.958G>T 3:g.152458185G>T MBNL1_ENST00000485509 ENST00000485509.5 1023 6923 TCGA-EK-A3GK-01 2263412 2130396 cervix NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV56830877 COSM79222 137653579 c.83C>G p.S28* Substitution - Nonsense 38 3:152300276-152300276 + - PATHOGENIC .95021 Confirmed somatic variant 415 NS primary 33 ENSP00000418876.1:p.Ser28Ter ENST00000485509.5:c.83C>G 3:g.152300276C>G DEPDC1 ENST00000456315.6 2436 22949 ACINAR01 2068112 1947905 pancreas NS NS NS carcinoma acinar_carcinoma NS NS y COSV63957621 COSM911902 132980158 c.1954C>T p.R652* Substitution - Nonsense 38 1:68479302-68479302 - - PATHOGENIC .95787 Confirmed somatic variant 24293293 surgery fresh/frozen primary 53 ENSP00000412292.2:p.Arg652Ter ENST00000456315.6:c.1954C>T 1:g.68479302G>A DEPDC1 ENST00000456315.6 2436 22949 CSCC-37-T 2292475 2158539 skin head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV63957621 COSM911902 132980158 c.1954C>T p.R652* Substitution - Nonsense het 38 1:68479302-68479302 - - PATHOGENIC .95787 Confirmed somatic variant 25303977 surgery fresh/frozen primary 60 ENSP00000412292.2:p.Arg652Ter ENST00000456315.6:c.1954C>T 1:g.68479302G>A DEPDC1 ENST00000456315.6 2436 22949 TCGA-AJ-A5DW-01 2263048 2130032 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV100920324 COSM9018592 132983523 c.1931C>A p.S644* Substitution - Nonsense 38 1:68481444-68481444 - - PATHOGENIC .99289 Confirmed somatic variant 419 NS primary 56 ENSP00000412292.2:p.Ser644Ter ENST00000456315.6:c.1931C>A 1:g.68481444G>T IP6K2_ENST00000449610 ENST00000449610.5 393 17313 TCGA-A5-A0G9-01 1783305 1687304 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV60794364 COSM1154212 129849868 c.181A>T p.K61* Substitution - Nonsense 38 3:48695111-48695111 - - PATHOGENIC .91144 Confirmed somatic variant 419 fresh/frozen - NOS primary 79 ENSP00000393077.1:p.Lys61Ter ENST00000449610.5:c.181A>T 3:g.48695111T>A NXNL1 ENST00000301944.2 639 25179 TCGA-ER-A19P-06 2121726 1995962 skin NS NS NS malignant_melanoma NS NS NS y COSV100112047 COSM7973300 101913236 c.347C>A p.S116* Substitution - Nonsense 38 19:17455939-17455939 - - NEUTRAL .44157 Confirmed somatic variant 540 NS NS 47 ENSP00000305631.1:p.Ser116Ter ENST00000301944.2:c.347C>A 19:g.17455939G>T SPG11_ENST00000558319 ENST00000558319.5 6240 11226 TCGA-AG-3892-01 1651564 1566351 large_intestine rectum NS NS carcinoma adenocarcinoma NS NS y COSV55996911 COSM258084 157525674 c.3961G>T p.E1321* Substitution - Nonsense 38 15:44598305-44598305 - - PATHOGENIC .97848 Confirmed somatic variant 22810696 375 NS primary 57 ENSP00000453599.1:p.Glu1321Ter ENST00000558319.5:c.3961G>T 15:g.44598305C>A TBL1X_ENST00000424279 ENST00000424279.5 1581 11585 GCYC_406_T 2747630 2606333 stomach NS NS NS carcinoma NS NS NS y COSV99483331 COSM8493086 126371165 c.862C>T p.R288* Substitution - Nonsense 38 23:9693381-9693381 + - PATHOGENIC .9107 Confirmed somatic variant 683 NS primary ENSP00000394097.1:p.Arg288Ter ENST00000424279.5:c.862C>T X:g.9693381C>T TBL1X_ENST00000424279 ENST00000424279.5 1581 11585 TCGA-W3-A825-06 2339744 2204727 skin NS NS NS malignant_melanoma NS NS NS y COSV54282018 COSM5413219 126373315 c.298C>T p.R100* Substitution - Nonsense 38 23:9688110-9688110 + - PATHOGENIC .95413 Confirmed somatic variant 540 NS NS 60 ENSP00000394097.1:p.Arg100Ter ENST00000424279.5:c.298C>T X:g.9688110C>T PCSK5 ENST00000545128.5 5583 8747 NPC0001PT00349T00349 2857323 2712623 upper_aerodigestive_tract pharynx nasopharynx NS carcinoma nasopharyngeal_carcinoma non_keratinizing NS y COSV105347717 COSM9542484 157716821 c.3397C>T p.R1133* Substitution - Nonsense 38 9:76296739-76296739 + - NEUTRAL .12872 Variant of unknown origin 28851814 surgery-fixed primary ENSP00000446280.1:p.Arg1133Ter ENST00000545128.5:c.3397C>T 9:g.76296739C>T DEPDC1 ENST00000456315.6 2436 22949 94445 2807593 2664294 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV100920552 COSM9130185 132982678 c.924C>A p.Y308* Substitution - Nonsense 38 1:68482884-68482884 - - PATHOGENIC .98581 Confirmed somatic variant 24807215 surgery fresh/frozen primary 77 ENSP00000412292.2:p.Tyr308Ter ENST00000456315.6:c.924C>A 1:g.68482884G>T DEPDC1 ENST00000456315.6 2436 22949 Thyroid-CN-WZ047T 2635108 2495504 thyroid NS NS NS carcinoma NS NS NS y COSV63958534 COSM6373052 132982974 c.400A>T p.K134* Substitution - Nonsense 38 1:68489523-68489523 - - PATHOGENIC .90226 Confirmed somatic variant 676 NS primary 54 ENSP00000412292.2:p.Lys134Ter ENST00000456315.6:c.400A>T 1:g.68489523T>A DEPDC1 ENST00000456315.6 2436 22949 TCGA-AJ-A5DW-01 2263048 2130032 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV100920237 COSM9010540 132980928 c.73C>T p.R25* Substitution - Nonsense 38 1:68494671-68494671 - - PATHOGENIC .98649 Confirmed somatic variant 419 NS primary 56 ENSP00000412292.2:p.Arg25Ter ENST00000456315.6:c.73C>T 1:g.68494671G>A AICDA_ENST00000537228 ENST00000537228.5 567 13203 ESCC02-T2 2645779 2506013 oesophagus NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV57563386 COSM3968479 153838729 c.295C>T p.R99* Substitution - Nonsense 38 12:8605347-8605347 - - NEUTRAL .07748 Confirmed somatic variant 27749841 surgery fresh/frozen primary 76 ENSP00000445691.1:p.Arg99Ter ENST00000537228.5:c.295C>T 12:g.8605347G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-DK-A6AW-01 2193260 2061538 urinary_tract bladder NS NS carcinoma NS NS NS y COSV101458237 COSM7658499 138572018 c.4717G>T p.E1573* Substitution - Nonsense 38 3:78600202-78600202 - - PATHOGENIC .96498 Confirmed somatic variant 413 NS NS 70 ENSP00000420637.1:p.Glu1573Ter ENST00000495273.5:c.4717G>T 3:g.78600202C>A MAN1A1 ENST00000368468.3 1962 6821 TCGA-D3-A2J8-06 2121511 1995747 skin NS NS NS malignant_melanoma NS NS NS y COSV63782078 COSM3620003 111607143 c.621G>A p.W207* Substitution - Nonsense 38 6:119306975-119306975 - - PATHOGENIC .97229 Confirmed somatic variant 540 NS NS 48 ENSP00000357453.3:p.Trp207Ter ENST00000368468.3:c.621G>A 6:g.119306975C>T PCSK5 ENST00000545128.5 5583 8747 TCGA-91-6836-01 1780238 1684237 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV65083391 COSM6116357 157729694 c.284C>A p.S95* Substitution - Nonsense 38 9:75932470-75932470 + - PATHOGENIC .9839 Variant of unknown origin 417 fresh/frozen - NOS primary 52 ENSP00000446280.1:p.Ser95Ter ENST00000545128.5:c.284C>A 9:g.75932470C>A PLD1 ENST00000351298.8 3225 9067 PD7219a 1527365 1449741 breast NS NS NS carcinoma ductal_carcinoma NS NS y COSV60565522 COSM5775180 109073113 c.1142G>A p.W381* Substitution - Nonsense 38 3:171708758-171708758 - - PATHOGENIC .98572 Confirmed somatic variant 652 NS primary ENSP00000342793.4:p.Trp381Ter ENST00000351298.8:c.1142G>A 3:g.171708758C>T DEPDC1 ENST00000456315.6 2436 22949 2113174 2113174 1987421 meninges NS NS NS meningioma haemangiopericytic NS NS y COSV63959395 COSM4167336 132981036 c.481G>T p.E161* Substitution - Nonsense 38 1:68489025-68489025 - - PATHOGENIC .98129 Confirmed somatic variant 23575898 surgery fresh/frozen NS ENSP00000412292.2:p.Glu161Ter ENST00000456315.6:c.481G>T 1:g.68489025C>A DEPDC1 ENST00000456315.6 2436 22949 5-VS037-T3 2869864 2724861 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV63957621 COSM911902 132980158 c.1954C>T p.R652* Substitution - Nonsense 38 1:68479302-68479302 - - PATHOGENIC .95787 Confirmed somatic variant 26950094 surgery fresh/frozen NS 83 ENSP00000412292.2:p.Arg652Ter ENST00000456315.6:c.1954C>T 1:g.68479302G>A NCKAP1L_ENST00000545638 ENST00000545638.2 3234 4862 TCGA-AP-A056-01 1783334 1687333 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV53209702 COSM941163 154590550 c.1285A>T p.K429* Substitution - Nonsense het 38 12:54518928-54518928 + - PATHOGENIC .91181 Variant of unknown origin 419 fresh/frozen - NOS primary 64 ENSP00000445596.2:p.Lys429Ter ENST00000545638.2:c.1285A>T 12:g.54518928A>T NCKAP1L_ENST00000545638 ENST00000545638.2 3234 4862 TCGA-44-7670-01 1913986 1802268 lung right_upper_lobe NS NS carcinoma adenocarcinoma NS NS y COSV53206643 COSM6137246 154589814 c.2821G>T p.E941* Substitution - Nonsense 38 12:54536143-54536143 + - PATHOGENIC .98735 Reported in another cancer sample as somatic 417 fresh/frozen - NOS primary 47 ENSP00000445596.2:p.Glu941Ter ENST00000545638.2:c.2821G>T 12:g.54536143G>T NXNL1 ENST00000301944.2 639 25179 TCGA-D5-6540-01 1651258 1566045 large_intestine caecum NS NS carcinoma adenocarcinoma NS NS y COSV57325111 COSM3756464 101913665 c.577C>T p.R193* Substitution - Nonsense 38 19:17455709-17455709 - - NEUTRAL .03052 Confirmed somatic variant 376 NS NS 66 ENSP00000305631.1:p.Arg193Ter ENST00000301944.2:c.577C>T 19:g.17455709G>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 Thyroid-CN-WZ042T 2635103 2495499 thyroid NS NS NS carcinoma NS NS NS y COSV55993162 COSM6366338 157525465 c.2872G>T p.E958* Substitution - Nonsense 38 15:44615529-44615529 - - PATHOGENIC .97729 Confirmed somatic variant 676 NS primary 32 ENSP00000453599.1:p.Glu958Ter ENST00000558319.5:c.2872G>T 15:g.44615529C>A TBL1X_ENST00000424279 ENST00000424279.5 1581 11585 2857102 2857102 2712402 urinary_tract bladder NS NS carcinoma transitional_cell_carcinoma NS NS y COSV105098495 COSM9527946 126379522 c.202G>T p.E68* Substitution - Nonsense 38 23:9684186-9684186 + - PATHOGENIC .99383 Confirmed somatic variant 25096233 surgery - NOS NS ENSP00000394097.1:p.Glu68Ter ENST00000424279.5:c.202G>T X:g.9684186G>T NCKAP1L_ENST00000545638 ENST00000545638.2 3234 4862 TCGA-AP-A051-01 1783330 1687329 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV53212545 COSM941160 154590812 c.874C>T p.Q292* Substitution - Nonsense het 38 12:54516921-54516921 + - NEUTRAL .20027 Variant of unknown origin 419 fresh/frozen - NOS primary 69 ENSP00000445596.2:p.Gln292Ter ENST00000545638.2:c.874C>T 12:g.54516921C>T NCKAP1L_ENST00000545638 ENST00000545638.2 3234 4862 TCGA-05-4432-01 1780075 1684074 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV53203561 COSM549134 154593804 c.2437C>T p.Q813* Substitution - Nonsense 38 12:54531340-54531340 + - PATHOGENIC .97919 Reported in another cancer sample as somatic 417 fresh/frozen - NOS primary 66 ENSP00000445596.2:p.Gln813Ter ENST00000545638.2:c.2437C>T 12:g.54531340C>T AICDA_ENST00000537228 ENST00000537228.5 567 13203 ESCC02-T1 2645766 2506013 oesophagus NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV57563386 COSM3968479 153838729 c.295C>T p.R99* Substitution - Nonsense 38 12:8605347-8605347 - - NEUTRAL .07748 Confirmed somatic variant 27749841 surgery fresh/frozen primary 76 ENSP00000445691.1:p.Arg99Ter ENST00000537228.5:c.295C>T 12:g.8605347G>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 TCGA-71-8520-01 2194759 2063037 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV99967971 COSM7818367 157524144 c.349G>T p.E117* Substitution - Nonsense 38 15:44660525-44660525 - - PATHOGENIC .93433 Confirmed somatic variant 417 NS NS 60 ENSP00000453599.1:p.Glu117Ter ENST00000558319.5:c.349G>T 15:g.44660525C>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 WD_01 2688650 2547632 skin face NS NS carcinoma squamous_cell_carcinoma NS NS y COSV55995896 COSM6893657 157535383 c.5756C>G p.S1919* Substitution - Nonsense het 38 15:44583924-44583924 - - PATHOGENIC .75814 Confirmed somatic variant 24662767 surgery fresh/frozen NS 64 ENSP00000453599.1:p.Ser1919Ter ENST00000558319.5:c.5756C>G 15:g.44583924G>C ALKBH2_ENST00000343075 ENST00000343075.7 786 32487 DLD1 2301972 2167255 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV57450339 COSM1946053 107235976 c.250G>T p.E84* Substitution - Nonsense het 38 12:109092537-109092537 - - NEUTRAL .19435 Variant of unknown origin 24755471 cell-line NS ENSP00000343021.3:p.Glu84Ter ENST00000343075.7:c.250G>T 12:g.109092537C>A ALKBH2_ENST00000343075 ENST00000343075.7 786 32487 HCT15 2301979 2167262 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV57450339 COSM1946053 107235976 c.250G>T p.E84* Substitution - Nonsense het 38 12:109092537-109092537 - - NEUTRAL .19435 Variant of unknown origin 24755471 cell-line NS ENSP00000343021.3:p.Glu84Ter ENST00000343075.7:c.250G>T 12:g.109092537C>A ALKBH2_ENST00000343075 ENST00000343075.7 786 32487 MBC007T 2807197 2663901 breast NS NS NS carcinoma ductal_carcinoma NS NS n COSV99980808 COSM9119024 107236662 c.514C>T p.R172* Substitution - Nonsense 38 12:109088478-109088478 - - PATHOGENIC .94147 Variant of unknown origin 31340200 surgery - NOS NS ENSP00000343021.3:p.Arg172Ter ENST00000343075.7:c.514C>T 12:g.109088478G>A PLD1 ENST00000351298.8 3225 9067 TCGA-EE-A29Q-06 2121643 1995879 skin NS NS NS malignant_melanoma NS NS NS y COSV60572332 COSM3590230 109077747 c.3094C>T p.R1032* Substitution - Nonsense 38 3:171603209-171603209 - - .6415 Confirmed somatic variant 540 NS NS 70 ENSP00000342793.4:p.Arg1032Ter ENST00000351298.8:c.3094C>T 3:g.171603209G>A DEPDC1 ENST00000456315.6 2436 22949 TCGA-CD-A4MG-01 2198123 2066401 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV63959422 COSM4009699 132981231 c.1273G>T p.G425* Substitution - Nonsense 38 1:68482535-68482535 - - PATHOGENIC .926 Confirmed somatic variant 541 NS NS 76 ENSP00000412292.2:p.Gly425Ter ENST00000456315.6:c.1273G>T 1:g.68482535C>A DEPDC1 ENST00000456315.6 2436 22949 W34T 2745057 2603760 thyroid NS NS NS carcinoma NS NS NS y COSV63958534 COSM6373052 132982974 c.400A>T p.K134* Substitution - Nonsense 38 1:68489523-68489523 - - PATHOGENIC .90226 Confirmed somatic variant 676 NS primary 54 ENSP00000412292.2:p.Lys134Ter ENST00000456315.6:c.400A>T 1:g.68489523T>A NCKAP1L_ENST00000545638 ENST00000545638.2 3234 4862 TCGA-AX-A05Z-01 1783365 1687364 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV53203936 COSM941175 154592787 c.3094C>T p.R1032* Substitution - Nonsense het 38 12:54538944-54538944 + - PATHOGENIC .78309 Reported in another cancer sample as somatic 419 fresh/frozen - NOS primary 37 ENSP00000445596.2:p.Arg1032Ter ENST00000545638.2:c.3094C>T 12:g.54538944C>T AICDA_ENST00000537228 ENST00000537228.5 567 13203 TCGA-FW-A3R5-06 2185962 2054259 skin NS NS NS malignant_melanoma NS NS NS y COSV57564515 COSM3872664 153840866 c.252G>A p.W84* Substitution - Nonsense 38 12:8605390-8605390 - - PATHOGENIC .99259 Confirmed somatic variant 540 NS NS 68 ENSP00000445691.1:p.Trp84Ter ENST00000537228.5:c.252G>A 12:g.8605390C>T SPG11_ENST00000558319 ENST00000558319.5 6240 11226 TCGA-D1-A16X-01 1783518 1687517 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV99968856 COSM9003635 157532990 c.2332G>T p.E778* Substitution - Nonsense 38 15:44622332-44622332 - - PATHOGENIC .94112 Confirmed somatic variant 419 fresh/frozen - NOS primary 54 ENSP00000453599.1:p.Glu778Ter ENST00000558319.5:c.2332G>T 15:g.44622332C>A MAN1A1 ENST00000368468.3 1962 6821 3 2239198 2106730 biliary_tract bile_duct NS NS carcinoma adenocarcinoma NS NS y COSV63787656 COSM4333244 111607397 c.1807C>T p.Q603* Substitution - Nonsense 38 6:119180340-119180340 - - PATHOGENIC .9938 Confirmed somatic variant 24550739 fresh/frozen - NOS NS 50 ENSP00000357453.3:p.Gln603Ter ENST00000368468.3:c.1807C>T 6:g.119180340G>A MAN1A1 ENST00000368468.3 1962 6821 EXTERN_MELA_20140924_117 2839330 2695096 skin NS NS NS malignant_melanoma NS NS NS y COSV63788820 COSM5357091 111612233 c.1129C>T p.R377* Substitution - Nonsense 38 6:119201335-119201335 - - PATHOGENIC .96201 Confirmed somatic variant 28467829 cell-line metastasis ENSP00000357453.3:p.Arg377Ter ENST00000368468.3:c.1129C>T 6:g.119201335G>A TBL1X_ENST00000424279 ENST00000424279.5 1581 11585 PT46 2521303 2383646 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV54277910 COSM5930163 126371118 c.915G>A p.W305* Substitution - Nonsense 38 23:9697383-9697383 + - PATHOGENIC .98642 Confirmed somatic variant 25759019 surgery fresh/frozen NS ENSP00000394097.1:p.Trp305Ter ENST00000424279.5:c.915G>A X:g.9697383G>A TBL1X_ENST00000424279 ENST00000424279.5 1581 11585 PT46 2521303 2383646 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV54277886 COSM5930161 126371110 c.914G>A p.W305* Substitution - Nonsense 38 23:9697382-9697382 + - PATHOGENIC .98642 Confirmed somatic variant 25759019 surgery fresh/frozen NS ENSP00000394097.1:p.Trp305Ter ENST00000424279.5:c.914G>A X:g.9697382G>A TBL1X_ENST00000424279 ENST00000424279.5 1581 11585 Thyroid-CN-WZ048T 2635109 2495505 thyroid NS NS NS carcinoma NS NS NS y COSV54275020 COSM6431396 126368168 c.985C>T p.Q329* Substitution - Nonsense 38 23:9705016-9705016 + - PATHOGENIC .97132 Confirmed somatic variant 676 NS primary 36 ENSP00000394097.1:p.Gln329Ter ENST00000424279.5:c.985C>T X:g.9705016C>T PCSK5 ENST00000545128.5 5583 8747 L363 2809755 2666425 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm plasma_cell_myeloma NS NS y COSV65100208 COSM3217421 157741516 c.1603C>T p.Q535* Substitution - Nonsense het 38 9:76159155-76159155 + - PATHOGENIC .96256 Variant of unknown origin 30545397 cell-line NS ENSP00000446280.1:p.Gln535Ter ENST00000545128.5:c.1603C>T 9:g.76159155C>T PCSK5 ENST00000545128.5 5583 8747 TCGA-AX-A0J0-01 1783376 1687375 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV65090921 COSM1110112 157734321 c.1711G>T p.E571* Substitution - Nonsense het 38 9:76169795-76169795 + - PATHOGENIC .99433 Variant of unknown origin 419 fresh/frozen - NOS primary 47 ENSP00000446280.1:p.Glu571Ter ENST00000545128.5:c.1711G>T 9:g.76169795G>T PLD1 ENST00000351298.8 3225 9067 TCGA-AP-A0LM-01 1783352 1687351 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV100579057 COSM9023421 109080893 c.463G>T p.E155* Substitution - Nonsense 38 3:171734942-171734942 - - PATHOGENIC .91256 Confirmed somatic variant 419 fresh/frozen - NOS primary 33 ENSP00000342793.4:p.Glu155Ter ENST00000351298.8:c.463G>T 3:g.171734942C>A PLD1 ENST00000351298.8 3225 9067 2492703 2492703 2355318 skin NS NS NS malignant_melanoma NS NS NS y COSV60566071 COSM5600235 109075809 c.1414C>T p.Q472* Substitution - Nonsense 38 3:171688801-171688801 - - PATHOGENIC .97589 Confirmed somatic variant 26286987 surgery fresh/frozen metastasis ENSP00000342793.4:p.Gln472Ter ENST00000351298.8:c.1414C>T 3:g.171688801G>A SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 ESO-0009 1890834 1780203 oesophagus NS NS NS carcinoma adenocarcinoma NS NS y COSV53478122 COSM1264853 177484638 c.1508T>A p.L503* Substitution - Nonsense 38 21:14500677-14500677 - - PATHOGENIC .99055 Variant of unknown origin 23525077 surgery fresh/frozen primary 62 ENSP00000493867.1:p.Leu503Ter ENST00000647101.1:c.1508T>A 21:g.14500677A>T SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 H1648 2776240 2634376 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV53467177 COSM2934838 177478234 c.754G>T p.E252* Substitution - Nonsense 38 21:14582327-14582327 - - NEUTRAL .45717 Variant of unknown origin 29681454 NS NS 39 ENSP00000493867.1:p.Glu252Ter ENST00000647101.1:c.754G>T 21:g.14582327C>A SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 TCGA-99-8032-01 1914116 1802398 lung right_upper_lobe NS NS carcinoma adenocarcinoma NS NS y COSV53470737 COSM6161149 177478964 c.1292C>A p.S431* Substitution - Nonsense 38 21:14512449-14512449 - - PATHOGENIC .98576 Variant of unknown origin 417 fresh/frozen - NOS primary 61 ENSP00000493867.1:p.Ser431Ter ENST00000647101.1:c.1292C>A 21:g.14512449G>T AICDA_ENST00000537228 ENST00000537228.5 567 13203 TCGA-DB-5281-01 2194404 2062682 central_nervous_system brain NS NS glioma NS NS NS y COSV57563386 COSM3968479 153838729 c.295C>T p.R99* Substitution - Nonsense 38 12:8605347-8605347 - - NEUTRAL .07748 Confirmed somatic variant 545 NS NS 61 ENSP00000445691.1:p.Arg99Ter ENST00000537228.5:c.295C>T 12:g.8605347G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-EE-A20H-06 2121630 1995866 skin NS NS NS malignant_melanoma NS NS NS y COSV71397875 COSM3597719 138586315 c.739C>T p.R247* Substitution - Nonsense 38 3:78717336-78717336 - - PATHOGENIC .87136 Confirmed somatic variant 540 NS NS 56 ENSP00000420637.1:p.Arg247Ter ENST00000495273.5:c.739C>T 3:g.78717336G>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 TCGA-CR-7364-01 2193800 2062078 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99968632 COSM8359363 157523792 c.1804C>T p.Q602* Substitution - Nonsense 38 15:44629320-44629320 - - PATHOGENIC .98155 Confirmed somatic variant 627 NS NS 66 ENSP00000453599.1:p.Gln602Ter ENST00000558319.5:c.1804C>T 15:g.44629320G>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 TCGA-D8-A73W-01 2386119 2248951 breast NS NS NS carcinoma NS NS NS y COSV99968552 COSM7680643 157532821 c.1344T>G p.Y448* Substitution - Nonsense 38 15:44651603-44651603 - - NEUTRAL .02799 Confirmed somatic variant 414 NS primary 79 ENSP00000453599.1:p.Tyr448Ter ENST00000558319.5:c.1344T>G 15:g.44651603A>C SPG11_ENST00000558319 ENST00000558319.5 6240 11226 D20 2368357 2231161 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV55997337 COSM5007864 157526025 c.3655G>T p.E1219* Substitution - Nonsense 38 15:44600498-44600498 - - PATHOGENIC .91545 Confirmed somatic variant 24951259 fresh/frozen - NOS primary ENSP00000453599.1:p.Glu1219Ter ENST00000558319.5:c.3655G>T 15:g.44600498C>A MAN1A1 ENST00000368468.3 1962 6821 TCGA-QK-A6IG-01 2262749 2129733 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV100870341 COSM8306428 111613318 c.872C>G p.S291* Substitution - Nonsense 38 6:119290708-119290708 - - PATHOGENIC .97622 Confirmed somatic variant 627 NS primary 69 ENSP00000357453.3:p.Ser291Ter ENST00000368468.3:c.872C>G 6:g.119290708G>C MAN1A1 ENST00000368468.3 1962 6821 I2L-P10-Tumor-Organoid 2433493 2296374 large_intestine colon sigmoid NS carcinoma adenocarcinoma NS NS y COSV63788820 COSM5357091 111612233 c.1129C>T p.R377* Substitution - Nonsense het 38 6:119201335-119201335 - - PATHOGENIC .96201 Confirmed somatic variant 25957691 NS NS 59 ENSP00000357453.3:p.Arg377Ter ENST00000368468.3:c.1129C>T 6:g.119201335G>A ALKBH2_ENST00000343075 ENST00000343075.7 786 32487 TCGA-AA-3977-01 1651086 1565873 large_intestine colon sigmoid NS carcinoma adenocarcinoma NS NS y COSV99655166 COSM7560599 107236620 c.103G>T p.E35* Substitution - Nonsense 38 12:109092684-109092684 - - NEUTRAL .22187 Confirmed somatic variant 376 NS NS 65 ENSP00000343021.3:p.Glu35Ter ENST00000343075.7:c.103G>T 12:g.109092684C>A RGS6_ENST00000555571 ENST00000555571.5 1419 10002 GCTK_525_T 2747498 2606201 stomach NS NS NS carcinoma NS NS NS y COSV59566152 COSM3671948 156298382 c.985C>T p.R329* Substitution - Nonsense 38 14:72510173-72510173 + - PATHOGENIC .86324 Confirmed somatic variant 683 NS primary ENSP00000450936.1:p.Arg329Ter ENST00000555571.5:c.985C>T 14:g.72510173C>T NCKAP1L_ENST00000545638 ENST00000545638.2 3234 4862 PT37 2521294 2383637 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV53203936 COSM941175 154592787 c.3094C>T p.R1032* Substitution - Nonsense 38 12:54538944-54538944 + - PATHOGENIC .78309 Confirmed somatic variant 25759019 surgery fresh/frozen NS ENSP00000445596.2:p.Arg1032Ter ENST00000545638.2:c.3094C>T 12:g.54538944C>T AICDA_ENST00000537228 ENST00000537228.5 567 13203 EXTERN_MELA_20140924_107 2839322 2695088 skin upper_leg NS NS malignant_melanoma NS NS NS y COSV104565420 COSM9465295 153841536 c.204G>A p.W68* Substitution - Nonsense 38 12:8605438-8605438 - - PATHOGENIC .98911 Confirmed somatic variant 28467829 cell-line metastasis ENSP00000445691.1:p.Trp68Ter ENST00000537228.5:c.204G>A 12:g.8605438C>T AICDA_ENST00000537228 ENST00000537228.5 567 13203 GBM18-I2 2813454 2669846 central_nervous_system brain NS NS glioma astrocytoma_Grade_IV glioblastoma_multiforme NS y COSV57563386 COSM3968479 153838729 c.295C>T p.R99* Substitution - Nonsense 38 12:8605347-8605347 - - NEUTRAL .07748 Confirmed somatic variant 28263318 surgery fresh/frozen NS 40 ENSP00000445691.1:p.Arg99Ter ENST00000537228.5:c.295C>T 12:g.8605347G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 EOPC-060_tumor_01 2633807 2494203 prostate NS NS NS carcinoma NS NS NS y COSV71391612 COSM6216518 138598800 c.4375C>T p.R1459* Substitution - Nonsense 38 3:78606967-78606967 - - PATHOGENIC .95985 Confirmed somatic variant 534 NS primary 41 ENSP00000420637.1:p.Arg1459Ter ENST00000495273.5:c.4375C>T 3:g.78606967G>A SPG11_ENST00000558319 ENST00000558319.5 6240 11226 TCGA-AA-A00N-01 1651102 1565889 large_intestine caecum NS NS carcinoma adenocarcinoma NS NS y COSV55992337 COSM277458 157523304 c.3940G>T p.E1314* Substitution - Nonsense 38 15:44598326-44598326 - - PATHOGENIC .97801 Confirmed somatic variant 22810696 376 NS NS 75 ENSP00000453599.1:p.Glu1314Ter ENST00000558319.5:c.3940G>T 15:g.44598326C>A TBL1X_ENST00000424279 ENST00000424279.5 1581 11585 T3049 2658328 2518487 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV54274318 COSM4732467 126373832 c.623G>A p.W208* Substitution - Nonsense 38 23:9692139-9692139 + - PATHOGENIC .99047 Confirmed somatic variant 27149842 NS NS 74.41 ENSP00000394097.1:p.Trp208Ter ENST00000424279.5:c.623G>A X:g.9692139G>A TBL1X_ENST00000424279 ENST00000424279.5 1581 11585 F155_389375 2815752 2672109 large_intestine rectum NS NS carcinoma adenocarcinoma NS NS y COSV104373215 COSM9232310 126378265 c.1309C>T p.R437* Substitution - Nonsense 38 23:9711633-9711633 + - PATHOGENIC .92926 Confirmed somatic variant 31660073 surgery-fixed NS 72 ENSP00000394097.1:p.Arg437Ter ENST00000424279.5:c.1309C>T X:g.9711633C>T ALKBH2_ENST00000343075 ENST00000343075.7 786 32487 TCGA-B5-A1MR-01 2198376 2066654 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV99980618 COSM8915188 107236712 c.529G>T p.E177* Substitution - Nonsense 38 12:109088463-109088463 - - PATHOGENIC .9923 Confirmed somatic variant 419 NS NS 65 ENSP00000343021.3:p.Glu177Ter ENST00000343075.7:c.529G>T 12:g.109088463C>A ALKBH2_ENST00000343075 ENST00000343075.7 786 32487 587376 1766805 1671125 large_intestine colon NS NS carcinoma adenocarcinoma NS NS y COSV54358006 COSM1182540 107236331 c.73G>T p.E25* Substitution - Nonsense 38 12:109092714-109092714 - - NEUTRAL .18841 Confirmed somatic variant 22895193 surgery fresh/frozen primary ENSP00000343021.3:p.Glu25Ter ENST00000343075.7:c.73G>T 12:g.109092714C>A PCSK5 ENST00000545128.5 5583 8747 SNU-175 2302007 2167290 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV65083956 COSM1110085 157696875 c.727C>T p.R243* Substitution - Nonsense het 38 9:76071731-76071731 + - PATHOGENIC .98243 Reported in another cancer sample as somatic 24755471 cell-line NS ENSP00000446280.1:p.Arg243Ter ENST00000545128.5:c.727C>T 9:g.76071731C>T RGS6_ENST00000555571 ENST00000555571.5 1419 10002 TP_2054 2467432 2330263 prostate NS NS NS carcinoma NS NS NS y COSV59569531 COSM2136665 156303143 c.1054C>T p.R352* Substitution - Nonsense het 38 14:72510242-72510242 + - PATHOGENIC .89966 Confirmed somatic variant 26000489 surgery - NOS metastasis 70 ENSP00000450936.1:p.Arg352Ter ENST00000555571.5:c.1054C>T 14:g.72510242C>T TMEM205_ENST00000593256 ENST00000593256.6 570 29631 IM-95m 2807628 2664329 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV55793235 COSM2814245 165843042 c.430C>T p.R144* Substitution - Nonsense 38 19:11342955-11342955 - - PATHOGENIC .87662 Variant of unknown origin 24807215 cell-line NS 63 ENSP00000468733.1:p.Arg144Ter ENST00000593256.6:c.430C>T 19:g.11342955G>A MAN1A1 ENST00000368468.3 1962 6821 TCGA-DA-A95Z-06 2380397 2243229 skin NS NS NS malignant_melanoma NS NS NS y COSV100870570 COSM8060417 111606823 c.1153A>T p.K385* Substitution - Nonsense 38 6:119201311-119201311 - - PATHOGENIC .98471 Confirmed somatic variant 540 NS metastasis 87 ENSP00000357453.3:p.Lys385Ter ENST00000368468.3:c.1153A>T 6:g.119201311T>A TBL1X_ENST00000424279 ENST00000424279.5 1581 11585 TCGA-EY-A1GI-01 2198283 2066561 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV99482884 COSM8824099 126369010 c.682C>T p.R228* Substitution - Nonsense 38 23:9692198-9692198 + - PATHOGENIC .84254 Confirmed somatic variant 419 NS NS 52 ENSP00000394097.1:p.Arg228Ter ENST00000424279.5:c.682C>T X:g.9692198C>T ALKBH2_ENST00000343075 ENST00000343075.7 786 32487 TCGA-FS-A1ZD-06 2121756 1995992 skin NS NS NS malignant_melanoma NS NS NS y COSV57449039 COSM3455726 107236835 c.401G>A p.W134* Substitution - Nonsense 38 12:109090087-109090087 - - PATHOGENIC .98571 Confirmed somatic variant 540 NS NS 63 ENSP00000343021.3:p.Trp134Ter ENST00000343075.7:c.401G>A 12:g.109090087C>T PLD1 ENST00000351298.8 3225 9067 TCGA-CV-6962-01 2193792 2062070 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV100578235 COSM8388061 109081181 c.892C>T p.R298* Substitution - Nonsense 38 3:171713912-171713912 - - PATHOGENIC .97272 Confirmed somatic variant 627 NS NS 65 ENSP00000342793.4:p.Arg298Ter ENST00000351298.8:c.892C>T 3:g.171713912G>A PLD1 ENST00000351298.8 3225 9067 2014_Lung_sq_10_T 2744881 2603584 lung NS NS NS carcinoma NS NS NS y COSV60565248 COSM7231678 109080536 c.2227C>T p.Q743* Substitution - Nonsense 38 3:171674502-171674502 - - PATHOGENIC .99435 Confirmed somatic variant 583 NS primary 79 ENSP00000342793.4:p.Gln743Ter ENST00000351298.8:c.2227C>T 3:g.171674502G>A RGS6_ENST00000555571 ENST00000555571.5 1419 10002 NPC0001PT00294T00294 2857286 2712586 upper_aerodigestive_tract pharynx nasopharynx NS carcinoma nasopharyngeal_carcinoma non_keratinizing NS y COSV59566152 COSM3671948 156298382 c.985C>T p.R329* Substitution - Nonsense 38 14:72510173-72510173 + - PATHOGENIC .86324 Confirmed somatic variant 28851814 surgery-fixed primary ENSP00000450936.1:p.Arg329Ter ENST00000555571.5:c.985C>T 14:g.72510173C>T TMEM205_ENST00000593256 ENST00000593256.6 570 29631 TCGA-EJ-5499-01 1797188 1698935 prostate NS NS NS carcinoma adenocarcinoma NS NS y COSV55792343 COSM3783173 165843221 c.385G>T p.E129* Substitution - Nonsense 38 19:11343000-11343000 - - PATHOGENIC .94382 Confirmed somatic variant 435 fresh/frozen - NOS primary 61 ENSP00000468733.1:p.Glu129Ter ENST00000593256.6:c.385G>T 19:g.11343000C>A NCKAP1L_ENST00000545638 ENST00000545638.2 3234 4862 2492721 2492721 2355336 skin NS NS NS malignant_melanoma NS NS NS y COSV53204840 COSM5724131 154592772 c.2338G>T p.E780* Substitution - Nonsense 38 12:54528359-54528359 + - PATHOGENIC .97226 Confirmed somatic variant 26286987 surgery fresh/frozen metastasis ENSP00000445596.2:p.Glu780Ter ENST00000545638.2:c.2338G>T 12:g.54528359G>T AICDA_ENST00000537228 ENST00000537228.5 567 13203 M55PT 2671635 2531194 pleura NS NS NS mesothelioma sarcomatous-fibrous NS NS y COSV57566489 COSM6845304 153839192 c.228C>G p.Y76* Substitution - Nonsense 38 12:8605414-8605414 - - PATHOGENIC .97529 Confirmed somatic variant 26928227 surgery fresh/frozen primary 57 ENSP00000445691.1:p.Tyr76Ter ENST00000537228.5:c.228C>G 12:g.8605414G>C AICDA_ENST00000537228 ENST00000537228.5 567 13203 ESCC02-T4 2645804 2506013 oesophagus NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV57563386 COSM3968479 153838729 c.295C>T p.R99* Substitution - Nonsense 38 12:8605347-8605347 - - NEUTRAL .07748 Confirmed somatic variant 27749841 surgery fresh/frozen primary 76 ENSP00000445691.1:p.Arg99Ter ENST00000537228.5:c.295C>T 12:g.8605347G>A CXXC5_ENST00000511048 ENST00000511048.1 969 26943 TCGA-B5-A11G-01 1783401 1687400 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV56793875 COSM1061564 143034494 c.850C>T p.R284* Substitution - Nonsense het 38 5:139681373-139681373 + - PATHOGENIC .91861 Reported in another cancer sample as somatic 419 fresh/frozen - NOS primary 71 ENSP00000427379.1:p.Arg284Ter ENST00000511048.1:c.850C>T 5:g.139681373C>T TBL1X_ENST00000424279 ENST00000424279.5 1581 11585 W36T 2745058 2603761 thyroid NS NS NS carcinoma NS NS NS y COSV54275020 COSM6431396 126368168 c.985C>T p.Q329* Substitution - Nonsense 38 23:9705016-9705016 + - PATHOGENIC .97132 Confirmed somatic variant 676 NS primary 36 ENSP00000394097.1:p.Gln329Ter ENST00000424279.5:c.985C>T X:g.9705016C>T CEP85_ENST00000451429 ENST00000451429.6 2136 25309 2834130 2834130 2689914 skin mucosal anorectal NS malignant_melanoma NS NS NS y COSV104581558 COSM9319657 133428798 c.1564C>T p.Q522* Substitution - Nonsense 38 1:26271081-26271081 + - PATHOGENIC .75485 Variant of unknown origin 28296713 surgery - NOS primary 59 ENSP00000417002.2:p.Gln522Ter ENST00000451429.6:c.1564C>T 1:g.26271081C>T CEP85_ENST00000451429 ENST00000451429.6 2136 25309 H1573 2776317 2634453 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV53333032 COSM2235025 133430629 c.1003G>T p.E335* Substitution - Nonsense 38 1:26259617-26259617 + - PATHOGENIC .99501 Variant of unknown origin 29681454 NS NS 35 ENSP00000417002.2:p.Glu335Ter ENST00000451429.6:c.1003G>T 1:g.26259617G>T TMEM205_ENST00000593256 ENST00000593256.6 570 29631 A6-2A 2746124 2604827 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV61515280 COSM7286517 165843616 c.148C>T p.Q50* Substitution - Nonsense 38 19:11345368-11345368 - - PATHOGENIC .95342 Confirmed somatic variant 646 NS primary 65 ENSP00000468733.1:p.Gln50Ter ENST00000593256.6:c.148C>T 19:g.11345368G>A TMEM205_ENST00000593256 ENST00000593256.6 570 29631 CSCC-29-T 2292470 2158534 skin head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV55792525 COSM4573219 165843336 c.435_436delinsTT p.E145_K146delinsD* Substitution - Nonsense het 38 19:11342949-11342950 - - Confirmed somatic variant 25303977 surgery fresh/frozen primary 70 ENSP00000468733.1:p.Glu145_Lys146delinsAspTer ENST00000593256.6:c.435_436delinsTT 19:g.11342949_11342950delinsAA AICDA_ENST00000537228 ENST00000537228.5 567 13203 5-VS037-T7 2869867 2724864 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV105064518 COSM9768832 153841508 c.455G>A p.W152* Substitution - Nonsense 38 12:8604865-8604865 - - PATHOGENIC .97022 Confirmed somatic variant 26950094 surgery fresh/frozen NS 83 ENSP00000445691.1:p.Trp152Ter ENST00000537228.5:c.455G>A 12:g.8604865C>T AICDA_ENST00000537228 ENST00000537228.5 567 13203 GBM18-I1 2813453 2669845 central_nervous_system brain NS NS glioma astrocytoma_Grade_IV glioblastoma_multiforme NS y COSV57563386 COSM3968479 153838729 c.295C>T p.R99* Substitution - Nonsense 38 12:8605347-8605347 - - NEUTRAL .07748 Confirmed somatic variant 28263318 surgery fresh/frozen NS 40 ENSP00000445691.1:p.Arg99Ter ENST00000537228.5:c.295C>T 12:g.8605347G>A FSCN1 ENST00000382361.7 1482 11148 BHY 2296290 2161893 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV61017163 COSM3267204 117052190 c.853C>T p.Q285* Substitution - Nonsense 38 7:5603277-5603277 + - PATHOGENIC .96415 Variant of unknown origin 25275298 cell-line NS 52 ENSP00000371798.3:p.Gln285Ter ENST00000382361.7:c.853C>T 7:g.5603277C>T ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-D3-A2JC-06 2121515 1995751 skin NS NS NS malignant_melanoma NS NS NS y COSV71396838 COSM1224052 138570472 c.3850G>T p.E1284* Substitution - Nonsense 38 3:78617932-78617932 - - PATHOGENIC .98645 Confirmed somatic variant 540 NS NS 53 ENSP00000420637.1:p.Glu1284Ter ENST00000495273.5:c.3850G>T 3:g.78617932C>A PLD1 ENST00000351298.8 3225 9067 TCGA-EO-A3AV-01 2339770 2204753 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV100577551 COSM8836292 109072634 c.520G>T p.E174* Substitution - Nonsense 38 3:171734885-171734885 - - PATHOGENIC .96653 Confirmed somatic variant 419 NS primary 51 ENSP00000342793.4:p.Glu174Ter ENST00000351298.8:c.520G>T 3:g.171734885C>A TMEM205_ENST00000593256 ENST00000593256.6 570 29631 2786003 2786003 2643456 large_intestine colon right NS carcinoma small_cell_carcinoma NS NS y COSV55793130 COSM1390326 165842972 c.370C>T p.R124* Substitution - Nonsense 38 19:11343015-11343015 - - PATHOGENIC .90284 Confirmed somatic variant 27586204 NS NS 68 ENSP00000468733.1:p.Arg124Ter ENST00000593256.6:c.370C>T 19:g.11343015G>A TMEM205_ENST00000593256 ENST00000593256.6 570 29631 TCGA-AU-6004-01 1651153 1565940 large_intestine caecum NS NS carcinoma adenocarcinoma NS NS y COSV55793130 COSM1390326 165842972 c.370C>T p.R124* Substitution - Nonsense 38 19:11343015-11343015 - - PATHOGENIC .90284 Confirmed somatic variant 376 NS NS 69 ENSP00000468733.1:p.Arg124Ter ENST00000593256.6:c.370C>T 19:g.11343015G>A NCKAP1L_ENST00000545638 ENST00000545638.2 3234 4862 2492722 2492722 2355337 skin NS NS NS malignant_melanoma NS NS NS y COSV53204840 COSM5724131 154592772 c.2338G>T p.E780* Substitution - Nonsense 38 12:54528359-54528359 + - PATHOGENIC .97226 Confirmed somatic variant 26286987 surgery fresh/frozen metastasis ENSP00000445596.2:p.Glu780Ter ENST00000545638.2:c.2338G>T 12:g.54528359G>T FSCN1 ENST00000382361.7 1482 11148 2834140 2834140 2689924 skin mucosal female_genital_tract_(site_indeterminate) NS malignant_melanoma NS NS NS y COSV104645449 COSM9344177 117051725 c.558C>A p.Y186* Substitution - Nonsense 38 7:5593494-5593494 + - PATHOGENIC .93946 Variant of unknown origin 28296713 surgery - NOS primary 66 ENSP00000371798.3:p.Tyr186Ter ENST00000382361.7:c.558C>A 7:g.5593494C>A CXXC5_ENST00000511048 ENST00000511048.1 969 26943 B71-Tumor 2185747 2054044 urinary_tract bladder NS NS carcinoma NS NS NS y COSV56794880 COSM1754003 143034432 c.865C>T p.Q289* Substitution - Nonsense 38 5:139681388-139681388 + - PATHOGENIC .94765 Confirmed somatic variant 581 NS NS ENSP00000427379.1:p.Gln289Ter ENST00000511048.1:c.865C>T 5:g.139681388C>T MAN1A1 ENST00000368468.3 1962 6821 2014_Lung_sq_53_T 2744924 2603627 lung NS NS NS carcinoma NS NS NS y COSV63783109 COSM3947954 111604370 c.823G>T p.E275* Substitution - Nonsense 38 6:119290757-119290757 - - PATHOGENIC .96114 Confirmed somatic variant 583 NS primary 65 ENSP00000357453.3:p.Glu275Ter ENST00000368468.3:c.823G>T 6:g.119290757C>A CEP85_ENST00000451429 ENST00000451429.6 2136 25309 TCGA-FI-A2D0-01 2198302 2066580 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV99431681 COSM7557968 133429674 c.1570C>T p.R524* Substitution - Nonsense 38 1:26271087-26271087 + - PATHOGENIC .70065 Confirmed somatic variant 419 NS NS 55 ENSP00000417002.2:p.Arg524Ter ENST00000451429.6:c.1570C>T 1:g.26271087C>T PCSK5 ENST00000545128.5 5583 8747 TCGA-AX-A0J1-01 1783377 1687376 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV65083956 COSM1110085 157696875 c.727C>T p.R243* Substitution - Nonsense het 38 9:76071731-76071731 + - PATHOGENIC .98243 Reported in another cancer sample as somatic 419 fresh/frozen - NOS primary 80 ENSP00000446280.1:p.Arg243Ter ENST00000545128.5:c.727C>T 9:g.76071731C>T PLD1 ENST00000351298.8 3225 9067 TCGA-FP-8211-01 2198042 2066320 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV100578109 COSM8224733 109076060 c.550G>T p.E184* Substitution - Nonsense 38 3:171733500-171733500 - - PATHOGENIC .92769 Confirmed somatic variant 541 NS NS 62 ENSP00000342793.4:p.Glu184Ter ENST00000351298.8:c.550G>T 3:g.171733500C>A NCKAP1L_ENST00000545638 ENST00000545638.2 3234 4862 BIALCL_34 2822940 2678800 haematopoietic_and_lymphoid_tissue breast NS NS lymphoid_neoplasm breast_implant_associated_anaplastic_large_cell_lymphoma_invasive ALK_negative NS y COSV104394707 COSM9273643 154596735 c.28A>T p.K10* Substitution - Nonsense 38 12:54499430-54499430 + - PATHOGENIC .97068 Confirmed somatic variant 31774495 surgery-fixed NS 50 ENSP00000445596.2:p.Lys10Ter ENST00000545638.2:c.28A>T 12:g.54499430A>T NCKAP1L_ENST00000545638 ENST00000545638.2 3234 4862 T593 2658231 2518390 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV53212756 COSM6722962 154591167 c.2311G>T p.E771* Substitution - Nonsense 38 12:54528332-54528332 + - PATHOGENIC .99034 Confirmed somatic variant 27149842 NS NS 67.5 ENSP00000445596.2:p.Glu771Ter ENST00000545638.2:c.2311G>T 12:g.54528332G>T NCKAP1L_ENST00000545638 ENST00000545638.2 3234 4862 T593 2658231 2518390 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV53212766 COSM6722961 154591176 c.2374G>T p.E792* Substitution - Nonsense 38 12:54531277-54531277 + - PATHOGENIC .97631 Confirmed somatic variant 27149842 NS NS 67.5 ENSP00000445596.2:p.Glu792Ter ENST00000545638.2:c.2374G>T 12:g.54531277G>T NCKAP1L_ENST00000545638 ENST00000545638.2 3234 4862 T207430 2658236 2518395 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV53204743 COSM6722951 154591297 c.2320C>T p.Q774* Substitution - Nonsense 38 12:54528341-54528341 + - PATHOGENIC .87758 Confirmed somatic variant 27149842 NS NS 84.5 ENSP00000445596.2:p.Gln774Ter ENST00000545638.2:c.2320C>T 12:g.54528341C>T ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-AJ-A3BH-01 2198467 2066745 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV101458322 COSM8643981 138560129 c.3574C>T p.R1192* Substitution - Nonsense 38 3:78627487-78627487 - - PATHOGENIC .85965 Confirmed somatic variant 419 NS NS 81 ENSP00000420637.1:p.Arg1192Ter ENST00000495273.5:c.3574C>T 3:g.78627487G>A CEP85_ENST00000451429 ENST00000451429.6 2136 25309 LCH/JXG-29 2389288 2252120 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm mixed_Langerhans_cell_histiocytosis-juvenile_xanthogranuloma NS NS y COSV53332616 COSM5031158 133426994 c.1651C>T p.Q551* Substitution - Nonsense 38 1:26274973-26274973 + - PATHOGENIC .79314 Confirmed somatic variant 25202140 surgery fresh/frozen recurrent 6.67 ENSP00000417002.2:p.Gln551Ter ENST00000451429.6:c.1651C>T 1:g.26274973C>T PCSK5 ENST00000545128.5 5583 8747 TCGA-BS-A0UV-01 1783478 1687477 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV65083956 COSM1110085 157696875 c.727C>T p.R243* Substitution - Nonsense het 38 9:76071731-76071731 + - PATHOGENIC .98243 Reported in another cancer sample as somatic 419 fresh/frozen - NOS primary 55 ENSP00000446280.1:p.Arg243Ter ENST00000545128.5:c.727C>T 9:g.76071731C>T PLD1 ENST00000351298.8 3225 9067 TCGA-D3-A2JC-06 2121515 1995751 skin NS NS NS malignant_melanoma NS NS NS y COSV100578659 COSM7857045 109073846 c.196G>T p.G66* Substitution - Nonsense 38 3:171737624-171737624 - - PATHOGENIC .97114 Confirmed somatic variant 540 NS NS 53 ENSP00000342793.4:p.Gly66Ter ENST00000351298.8:c.196G>T 3:g.171737624C>A RGS6_ENST00000555571 ENST00000555571.5 1419 10002 0066_CRUK_PC_0066_T1_DNA 2457576 2320413 prostate NS NS NS carcinoma adenocarcinoma NS NS y COSV59569531 COSM2136665 156303143 c.1054C>T p.R352* Substitution - Nonsense 38 14:72510242-72510242 + - PATHOGENIC .89966 Confirmed somatic variant 538 NS primary 70 ENSP00000450936.1:p.Arg352Ter ENST00000555571.5:c.1054C>T 14:g.72510242C>T SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 T3080 2296170 2161773 large_intestine colon transverse NS carcinoma adenocarcinoma NS NS y COSV53475146 COSM4723598 177477582 c.1453G>T p.G485* Substitution - Nonsense 38 21:14500732-14500732 - - PATHOGENIC .99187 Confirmed somatic variant 25344691 NS NS 74.66 ENSP00000493867.1:p.Gly485Ter ENST00000647101.1:c.1453G>T 21:g.14500732C>A CXXC5_ENST00000511048 ENST00000511048.1 969 26943 11M 2466830 2329661 skin shoulder NS NS malignant_melanoma desmoplastic NS NS y COSV56793875 COSM1061564 143034494 c.850C>T p.R284* Substitution - Nonsense 38 5:139681373-139681373 + - PATHOGENIC .91861 Confirmed somatic variant 26343386 surgery fresh/frozen NS 71 ENSP00000427379.1:p.Arg284Ter ENST00000511048.1:c.850C>T 5:g.139681373C>T MAN1A1 ENST00000368468.3 1962 6821 TCGA-AJ-A5DW-01 2263048 2130032 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV63781353 COSM3170952 111605829 c.904C>T p.R302* Substitution - Nonsense 38 6:119248348-119248348 - - PATHOGENIC .93862 Confirmed somatic variant 419 NS primary 56 ENSP00000357453.3:p.Arg302Ter ENST00000368468.3:c.904C>T 6:g.119248348G>A RGS6_ENST00000555571 ENST00000555571.5 1419 10002 T233366 2658251 2518410 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV59569531 COSM2136665 156303143 c.1054C>T p.R352* Substitution - Nonsense 38 14:72510242-72510242 + - PATHOGENIC .89966 Confirmed somatic variant 27149842 NS NS 80 ENSP00000450936.1:p.Arg352Ter ENST00000555571.5:c.1054C>T 14:g.72510242C>T NCKAP1L_ENST00000545638 ENST00000545638.2 3234 4862 2492720 2492720 2355335 skin ear NS NS malignant_melanoma NS NS NS y COSV53204840 COSM5724131 154592772 c.2338G>T p.E780* Substitution - Nonsense 38 12:54528359-54528359 + - PATHOGENIC .97226 Confirmed somatic variant 26286987 surgery fresh/frozen primary ENSP00000445596.2:p.Glu780Ter ENST00000545638.2:c.2338G>T 12:g.54528359G>T CXXC5_ENST00000511048 ENST00000511048.1 969 26943 TCGA-14-0862-01 2120292 1994528 central_nervous_system brain NS NS glioma astrocytoma_Grade_IV glioblastoma_multiforme NS y COSV56793875 COSM1061564 143034494 c.850C>T p.R284* Substitution - Nonsense 38 5:139681373-139681373 + - PATHOGENIC .91861 Confirmed somatic variant 329 NS NS 60 ENSP00000427379.1:p.Arg284Ter ENST00000511048.1:c.850C>T 5:g.139681373C>T CEP85_ENST00000451429 ENST00000451429.6 2136 25309 TCGA-EE-A2GR-06 2121667 1995903 skin NS NS NS malignant_melanoma NS NS NS y COSV99431685 COSM8064614 133429845 c.1378G>T p.E460* Substitution - Nonsense 38 1:26269496-26269496 + - PATHOGENIC .8782 Confirmed somatic variant 540 NS NS 78 ENSP00000417002.2:p.Glu460Ter ENST00000451429.6:c.1378G>T 1:g.26269496G>T CEP85_ENST00000451429 ENST00000451429.6 2136 25309 TCGA-D1-A0ZS-01 1783488 1687487 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV53328777 COSM907601 133427239 c.922C>T p.R308* Substitution - Nonsense 38 1:26258180-26258180 + - PATHOGENIC .80062 Confirmed somatic variant 419 fresh/frozen - NOS primary 54 ENSP00000417002.2:p.Arg308Ter ENST00000451429.6:c.922C>T 1:g.26258180C>T DCTD_ENST00000510370 ENST00000510370.5 537 2710 2014_Lung_sq_10_T 2744881 2603584 lung NS NS NS carcinoma NS NS NS y COSV63866669 COSM7232400 143891950 c.409G>T p.E137* Substitution - Nonsense 38 4:182893080-182893080 - - PATHOGENIC .97578 Confirmed somatic variant 583 NS primary 79 ENSP00000424017.1:p.Glu137Ter ENST00000510370.5:c.409G>T 4:g.182893080C>A MAN1A1 ENST00000368468.3 1962 6821 611LC 2637279 2497652 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV63788133 COSM6486877 111607098 c.1363G>T p.G455* Substitution - Nonsense het 38 6:119189847-119189847 - - PATHOGENIC .98786 Confirmed somatic variant 26503331 surgery fresh/frozen NS 63 ENSP00000357453.3:p.Gly455Ter ENST00000368468.3:c.1363G>T 6:g.119189847C>A DCTD_ENST00000510370 ENST00000510370.5 537 2710 CHC2113T 2339628 2204611 liver NS NS NS carcinoma hepatocellular_carcinoma NS NS y COSV63866900 COSM6202608 143891052 c.503C>G p.S168* Substitution - Nonsense 38 4:182891433-182891433 - - PATHOGENIC .99557 Confirmed somatic variant 381 NS primary 61 ENSP00000424017.1:p.Ser168Ter ENST00000510370.5:c.503C>G 4:g.182891433G>C NCKAP1L_ENST00000545638 ENST00000545638.2 3234 4862 TCGA-DA-A960-01 2380407 2243239 skin NS NS NS malignant_melanoma NS NS NS y COSV99514380 COSM8029434 154591277 c.499C>T p.Q167* Substitution - Nonsense 38 12:54509899-54509899 + - PATHOGENIC .96964 Confirmed somatic variant 540 NS primary 73 ENSP00000445596.2:p.Gln167Ter ENST00000545638.2:c.499C>T 12:g.54509899C>T SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 2492702 2492702 2355317 skin NS NS NS malignant_melanoma NS NS NS y COSV53467645 COSM1720324 177477417 c.1345C>T p.R449* Substitution - Nonsense 38 21:14510414-14510414 - - PATHOGENIC .96323 Confirmed somatic variant 26286987 surgery fresh/frozen metastasis ENSP00000493867.1:p.Arg449Ter ENST00000647101.1:c.1345C>T 21:g.14510414G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 WD_05 2688639 2547621 skin back NS NS carcinoma squamous_cell_carcinoma NS NS y COSV71396457 COSM4120340 138572332 c.1855C>T p.Q619* Substitution - Nonsense het 38 3:78667886-78667886 - - PATHOGENIC .99106 Confirmed somatic variant 24662767 surgery fresh/frozen NS 67 ENSP00000420637.1:p.Gln619Ter ENST00000495273.5:c.1855C>T 3:g.78667886G>A CXXC5_ENST00000511048 ENST00000511048.1 969 26943 B71 2097304 1975368 urinary_tract bladder NS NS carcinoma transitional_cell_carcinoma NS NS y COSV56794880 COSM1754003 143034432 c.865C>T p.Q289* Substitution - Nonsense 38 5:139681388-139681388 + - PATHOGENIC .94765 Confirmed somatic variant 24121792 fresh/frozen - NOS NS ENSP00000427379.1:p.Gln289Ter ENST00000511048.1:c.865C>T 5:g.139681388C>T CEP85_ENST00000451429 ENST00000451429.6 2136 25309 TCGA-AC-A23H-01 2187848 2056126 breast NS NS NS carcinoma NS NS NS y COSV53326494 COSM3804794 133428649 c.640C>T p.Q214* Substitution - Nonsense 38 1:26255755-26255755 + - PATHOGENIC .86792 Confirmed somatic variant 414 NS NS 90 ENSP00000417002.2:p.Gln214Ter ENST00000451429.6:c.640C>T 1:g.26255755C>T CEP85_ENST00000451429 ENST00000451429.6 2136 25309 TCGA-AA-3977-01 1651086 1565873 large_intestine colon sigmoid NS carcinoma adenocarcinoma NS NS y COSV99431681 COSM7557968 133429674 c.1570C>T p.R524* Substitution - Nonsense 38 1:26271087-26271087 + - PATHOGENIC .70065 Confirmed somatic variant 376 NS NS 65 ENSP00000417002.2:p.Arg524Ter ENST00000451429.6:c.1570C>T 1:g.26271087C>T PCSK5 ENST00000545128.5 5583 8747 SC_9026 2467370 2330201 prostate NS NS NS carcinoma NS NS NS y COSV70446567 COSM5563992 157698834 c.2656C>T p.Q886* Substitution - Nonsense het 38 9:76227532-76227532 + - .63844 Confirmed somatic variant 26000489 surgery - NOS metastasis 65 ENSP00000446280.1:p.Gln886Ter ENST00000545128.5:c.2656C>T 9:g.76227532C>T SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 TCGA-CD-A4MI-01 2198040 2066318 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV53467479 COSM4100833 177479721 c.1075G>T p.G359* Substitution - Nonsense 38 21:14516984-14516984 - - PATHOGENIC .89577 Confirmed somatic variant 541 NS NS 62 ENSP00000493867.1:p.Gly359Ter ENST00000647101.1:c.1075G>T 21:g.14516984C>A CXXC5_ENST00000511048 ENST00000511048.1 969 26943 TCGA-EJ-7321-01 1915859 1803855 prostate NS NS NS carcinoma adenocarcinoma NS NS y COSV56793055 COSM3674292 143035603 c.825C>A p.C275* Substitution - Nonsense 38 5:139681348-139681348 + - PATHOGENIC .84528 Confirmed somatic variant 435 fresh/frozen - NOS primary 57 ENSP00000427379.1:p.Cys275Ter ENST00000511048.1:c.825C>A 5:g.139681348C>A PLD1 ENST00000351298.8 3225 9067 2492701 2492701 2355316 skin NS NS NS malignant_melanoma NS NS NS y COSV60566071 COSM5600235 109075809 c.1414C>T p.Q472* Substitution - Nonsense 38 3:171688801-171688801 - - PATHOGENIC .97589 Confirmed somatic variant 26286987 surgery fresh/frozen metastasis ENSP00000342793.4:p.Gln472Ter ENST00000351298.8:c.1414C>T 3:g.171688801G>A RGS6_ENST00000555571 ENST00000555571.5 1419 10002 TCGA-DX-A6YT-01 2269816 2136584 soft_tissue NS NS NS sarcoma NS NS NS y COSV59569531 COSM2136665 156303143 c.1054C>T p.R352* Substitution - Nonsense 38 14:72510242-72510242 + - PATHOGENIC .89966 Confirmed somatic variant 635 NS NS ENSP00000450936.1:p.Arg352Ter ENST00000555571.5:c.1054C>T 14:g.72510242C>T RGS6_ENST00000555571 ENST00000555571.5 1419 10002 P-92-6393-Tumor-SM-7CKB6 2640208 2500509 upper_aerodigestive_tract pharynx nasopharynx NS carcinoma nasopharyngeal_carcinoma NS NS y COSV59577782 COSM6458061 156297866 c.1376C>A p.S459* Substitution - Nonsense 38 14:72562424-72562424 + - PATHOGENIC .92791 Confirmed somatic variant 28098136 surgery-fixed primary 65 ENSP00000450936.1:p.Ser459Ter ENST00000555571.5:c.1376C>A 14:g.72562424C>A RGS6_ENST00000555571 ENST00000555571.5 1419 10002 TCGA-CD-5804-01 2198154 2066432 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV59573357 COSM1370897 156303911 c.652C>T p.R218* Substitution - Nonsense 38 14:72474658-72474658 + - PATHOGENIC .79504 Confirmed somatic variant 541 NS NS 90 ENSP00000450936.1:p.Arg218Ter ENST00000555571.5:c.652C>T 14:g.72474658C>T NCKAP1L_ENST00000545638 ENST00000545638.2 3234 4862 TCGA-FW-A3R5-06 2185962 2054259 skin NS NS NS malignant_melanoma NS NS NS y COSV53207133 COSM3871974 154595918 c.627G>A p.W209* Substitution - Nonsense 38 12:54511844-54511844 + - PATHOGENIC .99674 Confirmed somatic variant 540 NS NS 68 ENSP00000445596.2:p.Trp209Ter ENST00000545638.2:c.627G>A 12:g.54511844G>A CEP85_ENST00000451429 ENST00000451429.6 2136 25309 25 2747997 2606700 stomach NS NS NS carcinoma NS NS NS y COSV99432298 COSM8616549 133429370 c.1705C>T p.R569* Substitution - Nonsense 38 1:26275027-26275027 + - .68197 Confirmed somatic variant 683 NS primary ENSP00000417002.2:p.Arg569Ter ENST00000451429.6:c.1705C>T 1:g.26275027C>T CEP85_ENST00000451429 ENST00000451429.6 2136 25309 TCGA-ZF-A9R7-01 2385806 2248638 urinary_tract bladder NS NS carcinoma NS NS NS y COSV99432454 COSM7661191 133428414 c.859A>T p.K287* Substitution - Nonsense 38 1:26257705-26257705 + - PATHOGENIC .99628 Confirmed somatic variant 413 NS primary 76 ENSP00000417002.2:p.Lys287Ter ENST00000451429.6:c.859A>T 1:g.26257705A>T SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 MBC_92 2662800 2522924 breast NS NS NS carcinoma ER-PR-positive_carcinoma NS NS y COSV53472475 COSM6575133 177485848 c.920C>G p.S307* Substitution - Nonsense 38 21:14582161-14582161 - - PATHOGENIC .83739 Confirmed somatic variant 28027327 fresh/frozen - NOS metastasis ENSP00000493867.1:p.Ser307Ter ENST00000647101.1:c.920C>G 21:g.14582161G>C FSCN1 ENST00000382361.7 1482 11148 CHC892T 2340454 2205437 liver NS NS NS carcinoma hepatocellular_carcinoma NS NS y COSV61018963 COSM4796838 117052079 c.1243C>T p.Q415* Substitution - Nonsense 38 7:5603994-5603994 + - PATHOGENIC .91895 Confirmed somatic variant 381 NS primary 72 ENSP00000371798.3:p.Gln415Ter ENST00000382361.7:c.1243C>T 7:g.5603994C>T ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-92-7340-01 2195008 2063286 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV71399989 COSM2827392 138559126 c.3187G>T p.E1063* Substitution - Nonsense 38 3:78635824-78635824 - - PATHOGENIC .98947 Confirmed somatic variant 418 NS NS 45 ENSP00000420637.1:p.Glu1063Ter ENST00000495273.5:c.3187G>T 3:g.78635824C>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 8665_PT 2500994 2363345 large_intestine rectum NS NS carcinoma adenocarcinoma NS NS y COSV71391406 COSM5756367 138558196 c.1759G>T p.G587* Substitution - Nonsense 38 3:78667982-78667982 - - PATHOGENIC .98189 Confirmed somatic variant 26109429 fresh/frozen - NOS primary 52 ENSP00000420637.1:p.Gly587Ter ENST00000495273.5:c.1759G>T 3:g.78667982C>A CEP85_ENST00000451429 ENST00000451429.6 2136 25309 TCGA-63-A5MW-01 2385890 2248722 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV53331624 COSM6265671 133429307 c.400G>T p.E134* Substitution - Nonsense 38 1:26255515-26255515 + - PATHOGENIC .99658 Confirmed somatic variant 418 NS primary 76 ENSP00000417002.2:p.Glu134Ter ENST00000451429.6:c.400G>T 1:g.26255515G>T CEP85_ENST00000451429 ENST00000451429.6 2136 25309 CSCC-44-T 2292480 2158544 skin head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV53328904 COSM4516869 133427919 c.87_88delinsGT p.F29_Q30delinsL* Substitution - Nonsense het 38 1:26255202-26255203 + - Confirmed somatic variant 25303977 surgery fresh/frozen primary 43 ENSP00000417002.2:p.Phe29_Gln30delinsLeuTer ENST00000451429.6:c.87_88delinsGT 1:g.26255202_26255203delinsGT CEP85_ENST00000451429 ENST00000451429.6 2136 25309 PD42110c 2894819 2749307 skin extremity NS NS malignant_melanoma nodular NS NS y COSV105015648 COSM9904374 133429296 c.1639C>T p.Q547* Substitution - Nonsense 38 1:26272069-26272069 + - PATHOGENIC .95421 Confirmed somatic variant 33024263 surgery-fixed metastasis ENSP00000417002.2:p.Gln547Ter ENST00000451429.6:c.1639C>T 1:g.26272069C>T CEP85_ENST00000451429 ENST00000451429.6 2136 25309 CC-UT-168T 2856951 2712251 kidney NS NS NS carcinoma clear_cell_renal_cell_carcinoma NS NS y COSV105015611 COSM9519726 133429387 c.1575C>A p.Y525* Substitution - Nonsense 38 1:26271092-26271092 + - .58097 Confirmed somatic variant 32271170 surgery-fixed primary ENSP00000417002.2:p.Tyr525Ter ENST00000451429.6:c.1575C>A 1:g.26271092C>A PCSK5 ENST00000545128.5 5583 8747 TCGA-37-3792-01 2195154 2063432 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV101377469 COSM8763010 157724907 c.3451G>T p.E1151* Substitution - Nonsense 38 9:76296793-76296793 + - NEUTRAL .07897 Confirmed somatic variant 418 NS NS 69 ENSP00000446280.1:p.Glu1151Ter ENST00000545128.5:c.3451G>T 9:g.76296793G>T PLD1 ENST00000351298.8 3225 9067 HCC2998 1998441 1883513 large_intestine colon NS NS carcinoma adenocarcinoma NS NS y COSV60566683 COSM1670699 109070817 c.331G>T p.E111* Substitution - Nonsense het 38 3:171735595-171735595 - - PATHOGENIC .94294 Confirmed somatic variant 23856246 cell-line primary ENSP00000342793.4:p.Glu111Ter ENST00000351298.8:c.331G>T 3:g.171735595C>A SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 TCGA-MP-A4TE-01 2194833 2063111 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV99581182 COSM8667933 177477103 c.1747G>T p.E583* Substitution - Nonsense 38 21:14498502-14498502 - - PATHOGENIC .82829 Confirmed somatic variant 417 NS NS 56 ENSP00000493867.1:p.Glu583Ter ENST00000647101.1:c.1747G>T 21:g.14498502C>A CLEC2A_ENST00000339766 ENST00000339766.8 483 24191 587376 1766805 1671125 large_intestine colon NS NS carcinoma adenocarcinoma NS NS y COSV60273645 COSM1201343 105098280 c.298G>T p.E100* Substitution - Nonsense 38 12:9922074-9922074 - - NEUTRAL .00882 Variant of unknown origin 22895193 surgery fresh/frozen primary ENSP00000339732.4:p.Glu100Ter ENST00000339766.8:c.298G>T 12:g.9922074C>A ZNF174_ENST00000575752 ENST00000575752.5 705 12963 T1222 2658242 2518401 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV51902017 COSM2919357 160578600 c.424C>T p.Q142* Substitution - Nonsense 38 16:3404447-3404447 + - PATHOGENIC .93893 Confirmed somatic variant 27149842 NS NS 71.91 ENSP00000461502.1:p.Gln142Ter ENST00000575752.5:c.424C>T 16:g.3404447C>T NCKAP1L_ENST00000545638 ENST00000545638.2 3234 4862 TCGA-19-5956-01 2178192 2046490 central_nervous_system brain NS NS glioma astrocytoma_Grade_IV glioblastoma_multiforme NS y COSV99515330 COSM7467883 154595960 c.424G>T p.E142* Substitution - Nonsense 38 12:54509736-54509736 + - PATHOGENIC .99017 Confirmed somatic variant 329 NS NS 53 ENSP00000445596.2:p.Glu142Ter ENST00000545638.2:c.424G>T 12:g.54509736G>T SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 TCGA-85-7843-01 2195075 2063353 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99582084 COSM8769856 177477484 c.1522G>T p.G508* Substitution - Nonsense 38 21:14500663-14500663 - - PATHOGENIC .9884 Confirmed somatic variant 418 NS NS 50 ENSP00000493867.1:p.Gly508Ter ENST00000647101.1:c.1522G>T 21:g.14500663C>A CLEC2A_ENST00000339766 ENST00000339766.8 483 24191 CHG-2010-22780T 2634352 2494748 liver NS NS NS other neoplasm NS NS y COSV60273373 COSN13360225 105098890 c.448C>T p.R150* Substitution - Nonsense 38 12:9898939-9898939 - - NEUTRAL .00281 Confirmed somatic variant 660 NS primary ENSP00000339732.4:p.Arg150Ter ENST00000339766.8:c.448C>T 12:g.9898939G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-A6-6781-01 1650963 1565750 large_intestine colon transverse NS carcinoma adenocarcinoma NS NS y COSV71391367 COSM1425466 138603060 c.2287C>T p.Q763* Substitution - Nonsense 38 3:78659733-78659733 - - PATHOGENIC .83594 Confirmed somatic variant 376 NS NS 43 ENSP00000420637.1:p.Gln763Ter ENST00000495273.5:c.2287C>T 3:g.78659733G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-A6-6781-01 1650963 1565750 large_intestine colon transverse NS carcinoma adenocarcinoma NS NS y COSV71391367 COSM1425466 138603060 c.2287C>T p.Q763* Substitution - Nonsense 38 3:78659733-78659733 - - PATHOGENIC .83594 Confirmed somatic variant 22810696 376 NS NS 43 ENSP00000420637.1:p.Gln763Ter ENST00000495273.5:c.2287C>T 3:g.78659733G>A ZNF174_ENST00000575752 ENST00000575752.5 705 12963 TCGA-85-6561-01 1783181 1687180 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV51902445 COSM703067 160578169 c.85G>T p.E29* Substitution - Nonsense 38 16:3402089-3402089 + - PATHOGENIC .83364 Confirmed somatic variant 418 fresh/frozen - NOS primary 66 ENSP00000461502.1:p.Glu29Ter ENST00000575752.5:c.85G>T 16:g.3402089G>T MAN1A1 ENST00000368468.3 1962 6821 12T 1551811 1473917 skin arm NS NS malignant_melanoma NS NS NS y COSV63789831 COSM108648 111613470 c.1385G>A p.W462* Substitution - Nonsense het 38 6:119189825-119189825 - - PATHOGENIC .98436 Confirmed somatic variant 21499247 surgery fresh/frozen metastasis 53 ENSP00000357453.3:p.Trp462Ter ENST00000368468.3:c.1385G>A 6:g.119189825C>T MAN1A1 ENST00000368468.3 1962 6821 TCGA-BR-6566-01 2197873 2066151 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV63781353 COSM3170952 111605829 c.904C>T p.R302* Substitution - Nonsense 38 6:119248348-119248348 - - PATHOGENIC .93862 Confirmed somatic variant 541 NS NS 64 ENSP00000357453.3:p.Arg302Ter ENST00000368468.3:c.904C>T 6:g.119248348G>A MAN1A1 ENST00000368468.3 1962 6821 PD36139a 2894852 2749340 skin extremity NS NS malignant_melanoma nodular NS NS y COSV63788820 COSM5357091 111612233 c.1129C>T p.R377* Substitution - Nonsense 38 6:119201335-119201335 - - PATHOGENIC .96201 Confirmed somatic variant 33024263 surgery-fixed metastasis 72 ENSP00000357453.3:p.Arg377Ter ENST00000368468.3:c.1129C>T 6:g.119201335G>A MAN1A1 ENST00000368468.3 1962 6821 1N56-VS-1T56 2582885 2444140 oesophagus NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV63784739 COSM4977263 111605307 c.796G>T p.E266* Substitution - Nonsense 38 6:119302008-119302008 - - PATHOGENIC .78723 Confirmed somatic variant 26759717 surgery - NOS NS 69 ENSP00000357453.3:p.Glu266Ter ENST00000368468.3:c.796G>T 6:g.119302008C>A CEP44 ENST00000457424.6 1200 29356 2834134 2834134 2689918 skin mucosal female_genital_tract_(site_indeterminate) NS malignant_melanoma NS NS NS y COSV104613906 COSM9335853 131011007 c.425C>A p.S142* Substitution - Nonsense 38 4:174304287-174304287 + - PATHOGENIC .86036 Variant of unknown origin 28296713 surgery - NOS NS 49 ENSP00000389427.2:p.Ser142Ter ENST00000457424.6:c.425C>A 4:g.174304287C>A NCKAP1L_ENST00000545638 ENST00000545638.2 3234 4862 APGI-AMP-2713 2866031 2721108 pancreas ampulla_of_Vater NS NS carcinoma ductal_carcinoma NS NS y COSV99515513 COSM8479523 154589617 c.1711C>T p.R571* Substitution - Nonsense 38 12:54521221-54521221 + - .67073 Confirmed somatic variant 26804919 surgery fresh/frozen NS ENSP00000445596.2:p.Arg571Ter ENST00000545638.2:c.1711C>T 12:g.54521221C>T NCKAP1L_ENST00000545638 ENST00000545638.2 3234 4862 278 2748250 2606953 stomach NS NS NS carcinoma NS NS NS y COSV99515513 COSM8479523 154589617 c.1711C>T p.R571* Substitution - Nonsense 38 12:54521221-54521221 + - .67073 Confirmed somatic variant 683 NS primary ENSP00000445596.2:p.Arg571Ter ENST00000545638.2:c.1711C>T 12:g.54521221C>T ZNF174_ENST00000575752 ENST00000575752.5 705 12963 T546 2658248 2518407 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV51903408 COSM6828191 160578008 c.325C>T p.R109* Substitution - Nonsense 38 16:3402329-3402329 + - NEUTRAL .05681 Confirmed somatic variant 27149842 NS NS 69.91 ENSP00000461502.1:p.Arg109Ter ENST00000575752.5:c.325C>T 16:g.3402329C>T ZNF174_ENST00000575752 ENST00000575752.5 705 12963 TCGA-EE-A2GL-06 2121662 1995898 skin NS NS NS malignant_melanoma NS NS NS y COSV51901897 COSM3509452 160577617 c.439G>T p.E147* Substitution - Nonsense 38 16:3404462-3404462 + - PATHOGENIC .96518 Confirmed somatic variant 540 NS NS 40 ENSP00000461502.1:p.Glu147Ter ENST00000575752.5:c.439G>T 16:g.3404462G>T ZNF174_ENST00000575752 ENST00000575752.5 705 12963 TCGA-WE-AAA3-06 2339490 2204473 skin NS NS NS malignant_melanoma NS NS NS y COSV51903408 COSM6828191 160578008 c.325C>T p.R109* Substitution - Nonsense 38 16:3402329-3402329 + - NEUTRAL .05681 Confirmed somatic variant 540 NS NS 84 ENSP00000461502.1:p.Arg109Ter ENST00000575752.5:c.325C>T 16:g.3402329C>T MAN1A1 ENST00000368468.3 1962 6821 4095_T 2194955 2063233 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV63783109 COSM3947954 111604370 c.823G>T p.E275* Substitution - Nonsense 38 6:119290757-119290757 - - PATHOGENIC .96114 Confirmed somatic variant 583 NS NS ENSP00000357453.3:p.Glu275Ter ENST00000368468.3:c.823G>T 6:g.119290757C>A MAN1A1 ENST00000368468.3 1962 6821 BD202T 2459833 2322670 biliary_tract bile_duct NS NS carcinoma NS NS NS y COSV63783506 COSM5501344 111614263 c.889G>T p.G297* Substitution - Nonsense 38 6:119290691-119290691 - - PATHOGENIC .94298 Confirmed somatic variant 658 NS primary 74 ENSP00000357453.3:p.Gly297Ter ENST00000368468.3:c.889G>T 6:g.119290691C>A TBL1X_ENST00000424279 ENST00000424279.5 1581 11585 TCGA-FR-A7U9-06 2185858 2054155 skin NS NS NS malignant_melanoma NS NS NS y COSV99483009 COSM8042181 126373564 c.735G>A p.W245* Substitution - Nonsense 38 23:9692251-9692251 + - PATHOGENIC .98377 Confirmed somatic variant 540 NS NS 63 ENSP00000394097.1:p.Trp245Ter ENST00000424279.5:c.735G>A X:g.9692251G>A PCSK5 ENST00000545128.5 5583 8747 TCGA-CV-A45W-01 2339585 2204568 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV101377681 COSM8348976 157717734 c.4347C>A p.C1449* Substitution - Nonsense 38 9:76328097-76328097 + - NEUTRAL .03893 Confirmed somatic variant 627 NS primary 75 ENSP00000446280.1:p.Cys1449Ter ENST00000545128.5:c.4347C>A 9:g.76328097C>A CEP44 ENST00000457424.6 1200 29356 RK159_C01 1918891 1806212 liver NS NS NS carcinoma NS NS NS y COSV56660341 COSM1633564 131012042 c.307G>T p.E103* Substitution - Nonsense het 38 4:174303772-174303772 + - PATHOGENIC .8994 Variant of unknown origin 322 fresh/frozen - NOS primary ENSP00000389427.2:p.Glu103Ter ENST00000457424.6:c.307G>T 4:g.174303772G>T SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 TCGA-EY-A1G8-01 2198478 2066756 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV99581581 COSM9068952 177482575 c.1558G>T p.E520* Substitution - Nonsense 38 21:14500627-14500627 - - PATHOGENIC .98352 Confirmed somatic variant 419 NS NS 83 ENSP00000493867.1:p.Glu520Ter ENST00000647101.1:c.1558G>T 21:g.14500627C>A SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 IGC-04-1193 2662317 2522441 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV53467586 COSM6559040 177479807 c.1928C>A p.S643* Substitution - Nonsense 38 21:14485994-14485994 - - PATHOGENIC .93482 Confirmed somatic variant 27923066 surgery fresh/frozen primary ENSP00000493867.1:p.Ser643Ter ENST00000647101.1:c.1928C>A 21:g.14485994G>T SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 IGC-04-1193 2662317 2522441 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV53467608 COSM6533172 177479817 c.1109C>G p.S370* Substitution - Nonsense 38 21:14516950-14516950 - - PATHOGENIC .98337 Confirmed somatic variant 27923066 surgery fresh/frozen primary ENSP00000493867.1:p.Ser370Ter ENST00000647101.1:c.1109C>G 21:g.14516950G>C ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 N-Thy009 2406669 2269549 thymus NS NS NS thymic_carcinoma undifferentiated_carcinoma NS NS y COSV71391759 COSM5095480 138559953 c.3279C>A p.Y1093* Substitution - Nonsense 38 3:78634002-78634002 - - PATHOGENIC .96834 Confirmed somatic variant 24974848 surgery fresh/frozen NS 46 ENSP00000420637.1:p.Tyr1093Ter ENST00000495273.5:c.3279C>A 3:g.78634002G>T ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 MELA_35619 2760727 2619260 skin head_neck NS NS malignant_melanoma nodular NS NS y COSV104714541 COSM9301244 138598921 c.3637C>T p.Q1213* Substitution - Nonsense 38 3:78627424-78627424 - - PATHOGENIC .99314 Confirmed somatic variant 30178487 surgery fresh/frozen metastasis 25 ENSP00000420637.1:p.Gln1213Ter ENST00000495273.5:c.3637C>T 3:g.78627424G>A LGI1_ENST00000636155 ENST00000636155.1 864 6572 TCGA-22-1002-01 1780732 1684731 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV65058136 COSM686057 171513375 c.144T>A p.C48* Substitution - Nonsense 38 10:93758288-93758288 + - PATHOGENIC .73303 Variant of unknown origin 418 fresh/frozen - NOS primary 69 ENSP00000490355.1:p.Cys48Ter ENST00000636155.1:c.144T>A 10:g.93758288T>A MAN1A1 ENST00000368468.3 1962 6821 TCGA-GF-A6C9-06 2339468 2204451 skin NS NS NS malignant_melanoma NS NS NS y COSV63788870 COSM174785 111611042 c.1540C>T p.R514* Substitution - Nonsense 38 6:119189670-119189670 - - PATHOGENIC .98288 Confirmed somatic variant 540 NS NS 78 ENSP00000357453.3:p.Arg514Ter ENST00000368468.3:c.1540C>T 6:g.119189670G>A TBL1X_ENST00000424279 ENST00000424279.5 1581 11585 YUVEME 2439385 2302226 skin NS NS NS malignant_melanoma NS NS NS y COSV54282018 COSM5413219 126373315 c.298C>T p.R100* Substitution - Nonsense het 38 23:9688110-9688110 + - PATHOGENIC .95413 Confirmed somatic variant 26214590 fresh/frozen - NOS metastasis 78 ENSP00000394097.1:p.Arg100Ter ENST00000424279.5:c.298C>T X:g.9688110C>T CEP85_ENST00000451429 ENST00000451429.6 2136 25309 TCGA-AN-A046-01 2187824 2056102 breast NS NS NS carcinoma NS NS NS y COSV53328777 COSM907601 133427239 c.922C>T p.R308* Substitution - Nonsense 38 1:26258180-26258180 + - PATHOGENIC .80062 Confirmed somatic variant 414 NS NS 68 ENSP00000417002.2:p.Arg308Ter ENST00000451429.6:c.922C>T 1:g.26258180C>T CEP85_ENST00000451429 ENST00000451429.6 2136 25309 TCGA-D7-A6EZ-01 2263038 2130022 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV99431943 COSM8200192 133427564 c.1562G>A p.W521* Substitution - Nonsense 38 1:26271079-26271079 + - .66262 Confirmed somatic variant 541 NS primary 66 ENSP00000417002.2:p.Trp521Ter ENST00000451429.6:c.1562G>A 1:g.26271079G>A PCSK5 ENST00000545128.5 5583 8747 TCGA-GF-A6C8-06 2185856 2054153 skin NS NS NS malignant_melanoma NS NS NS y COSV65088272 COSM3927012 157735410 c.2409C>A p.C803* Substitution - Nonsense 38 9:76189122-76189122 + - PATHOGENIC .95352 Confirmed somatic variant 540 NS NS 62 ENSP00000446280.1:p.Cys803Ter ENST00000545128.5:c.2409C>A 9:g.76189122C>A PLD1 ENST00000351298.8 3225 9067 Au2 2466841 2329672 skin scalp NS NS malignant_melanoma desmoplastic NS NS y COSV60566071 COSM5600235 109075809 c.1414C>T p.Q472* Substitution - Nonsense 38 3:171688801-171688801 - - PATHOGENIC .97589 Confirmed somatic variant 26343386 surgery fresh/frozen NS 85 ENSP00000342793.4:p.Gln472Ter ENST00000351298.8:c.1414C>T 3:g.171688801G>A PLD1 ENST00000351298.8 3225 9067 TCGA-DF-A2KV-01 2386237 2249069 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV100579031 COSM8874269 109082970 c.970G>T p.E324* Substitution - Nonsense 38 3:171709651-171709651 - - PATHOGENIC .98073 Confirmed somatic variant 419 NS primary 55 ENSP00000342793.4:p.Glu324Ter ENST00000351298.8:c.970G>T 3:g.171709651C>A NCKAP1L_ENST00000545638 ENST00000545638.2 3234 4862 5-VS033-T1 2869854 2724851 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV53206643 COSM6137246 154589814 c.2821G>T p.E941* Substitution - Nonsense 38 12:54536143-54536143 + - PATHOGENIC .98735 Confirmed somatic variant 26950094 surgery fresh/frozen NS 73 ENSP00000445596.2:p.Glu941Ter ENST00000545638.2:c.2821G>T 12:g.54536143G>T SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 1_PRE-TREATMENT 2062377 1942456 skin NS NS NS malignant_melanoma NS NS NS y COSV53467645 COSM1720324 177477417 c.1345C>T p.R449* Substitution - Nonsense hom 38 21:14510414-14510414 - - PATHOGENIC .96323 Confirmed somatic variant 24265154 surgery - NOS NS 72 ENSP00000493867.1:p.Arg449Ter ENST00000647101.1:c.1345C>T 21:g.14510414G>A LGI1_ENST00000636155 ENST00000636155.1 864 6572 H2171 1759280 1664028 lung NS NS NS carcinoma small_cell_carcinoma NS NS n COSV65057676 COSM312487 171514095 c.795G>A p.W265* Substitution - Nonsense 38 10:93793307-93793307 + - PATHOGENIC .9911 Variant of unknown origin 22941188 cell-line NS ENSP00000490355.1:p.Trp265Ter ENST00000636155.1:c.795G>A 10:g.93793307G>A MAN1A1 ENST00000368468.3 1962 6821 1T56 2745696 2604399 oesophagus NS NS NS carcinoma NS NS NS y COSV63784739 COSM4977263 111605307 c.796G>T p.E266* Substitution - Nonsense 38 6:119302008-119302008 - - PATHOGENIC .78723 Confirmed somatic variant 582 NS primary 69 ENSP00000357453.3:p.Glu266Ter ENST00000368468.3:c.796G>T 6:g.119302008C>A CEP85_ENST00000451429 ENST00000451429.6 2136 25309 CHG-14-15016T 2634332 2494728 liver NS NS NS other neoplasm NS NS y COSV53331624 COSM6265671 133429307 c.400G>T p.E134* Substitution - Nonsense 38 1:26255515-26255515 + - PATHOGENIC .99658 Confirmed somatic variant 660 NS primary 70 ENSP00000417002.2:p.Glu134Ter ENST00000451429.6:c.400G>T 1:g.26255515G>T PCSK5 ENST00000545128.5 5583 8747 TCGA-BR-4184-01 2198083 2066361 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV65083956 COSM1110085 157696875 c.727C>T p.R243* Substitution - Nonsense 38 9:76071731-76071731 + - PATHOGENIC .98243 Confirmed somatic variant 541 NS NS 70 ENSP00000446280.1:p.Arg243Ter ENST00000545128.5:c.727C>T 9:g.76071731C>T PCSK5 ENST00000545128.5 5583 8747 EXTERN_MELA_20140924_029 2839375 2695141 skin lower_leg NS NS malignant_melanoma NS NS NS y COSV70451329 COSM3658382 157700550 c.2771G>A p.W924* Substitution - Nonsense 38 9:76233501-76233501 + - .56695 Confirmed somatic variant 28467829 surgery fresh/frozen metastasis ENSP00000446280.1:p.Trp924Ter ENST00000545128.5:c.2771G>A 9:g.76233501G>A PCSK5 ENST00000545128.5 5583 8747 CHC2707T 2634370 2494766 liver NS NS NS other neoplasm NS NS y COSV70452014 COSM6203241 157701056 c.4729C>T p.Q1577* Substitution - Nonsense 38 9:76338291-76338291 + - NEUTRAL .02703 Confirmed somatic variant 381 NS primary 78 ENSP00000446280.1:p.Gln1577Ter ENST00000545128.5:c.4729C>T 9:g.76338291C>T PLD1 ENST00000351298.8 3225 9067 2492700 2492700 2355315 skin face NS NS malignant_melanoma NS NS NS y COSV60566071 COSM5600235 109075809 c.1414C>T p.Q472* Substitution - Nonsense 38 3:171688801-171688801 - - PATHOGENIC .97589 Confirmed somatic variant 26286987 surgery fresh/frozen primary ENSP00000342793.4:p.Gln472Ter ENST00000351298.8:c.1414C>T 3:g.171688801G>A NCKAP1L_ENST00000545638 ENST00000545638.2 3234 4862 2492723 2492723 2355338 skin NS NS NS malignant_melanoma NS NS NS y COSV53204840 COSM5724131 154592772 c.2338G>T p.E780* Substitution - Nonsense 38 12:54528359-54528359 + - PATHOGENIC .97226 Confirmed somatic variant 26286987 surgery fresh/frozen metastasis ENSP00000445596.2:p.Glu780Ter ENST00000545638.2:c.2338G>T 12:g.54528359G>T PCSK5 ENST00000545128.5 5583 8747 TCGA-CG-5721-01 2198017 2066295 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV101377700 COSM8170717 157725630 c.4843C>T p.Q1615* Substitution - Nonsense 38 9:76338405-76338405 + - NEUTRAL .05529 Confirmed somatic variant 541 NS NS 58 ENSP00000446280.1:p.Gln1615Ter ENST00000545128.5:c.4843C>T 9:g.76338405C>T PCSK5 ENST00000545128.5 5583 8747 TCGA-EE-A29L-06 2121639 1995875 skin NS NS NS malignant_melanoma NS NS NS y COSV65095981 COSM3658272 157700522 c.305G>A p.W102* Substitution - Nonsense 38 9:75986139-75986139 + - PATHOGENIC .96966 Confirmed somatic variant 540 NS NS 78 ENSP00000446280.1:p.Trp102Ter ENST00000545128.5:c.305G>A 9:g.75986139G>A PCSK5 ENST00000545128.5 5583 8747 TCGA-EE-A29L-06 2121639 1995875 skin NS NS NS malignant_melanoma NS NS NS y COSV70451329 COSM3658382 157700550 c.2771G>A p.W924* Substitution - Nonsense 38 9:76233501-76233501 + - .56695 Confirmed somatic variant 540 NS NS 78 ENSP00000446280.1:p.Trp924Ter ENST00000545128.5:c.2771G>A 9:g.76233501G>A PLD1 ENST00000351298.8 3225 9067 TCGA-DF-A2KV-01 2386237 2249069 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV60565265 COSM1041300 109073518 c.973G>T p.E325* Substitution - Nonsense 38 3:171709648-171709648 - - PATHOGENIC .939 Confirmed somatic variant 419 NS primary 55 ENSP00000342793.4:p.Glu325Ter ENST00000351298.8:c.973G>T 3:g.171709648C>A RGS6_ENST00000555571 ENST00000555571.5 1419 10002 Pat_41_B 2513797 2376166 NS NS NS NS malignant_melanoma NS NS NS y COSV59565267 COSM5848469 156318327 c.501G>A p.W167* Substitution - Nonsense 38 14:72470048-72470048 + - PATHOGENIC .98419 Confirmed somatic variant 24265153 surgery-fixed NS 76 ENSP00000450936.1:p.Trp167Ter ENST00000555571.5:c.501G>A 14:g.72470048G>A NCKAP1L_ENST00000545638 ENST00000545638.2 3234 4862 TCGA-B0-5092-01 1779827 1683826 kidney NS NS NS carcinoma clear_cell_renal_cell_carcinoma NS NS y COSV53208658 COSM468612 154591848 c.31A>T p.K11* Substitution - Nonsense 38 12:54499433-54499433 + - PATHOGENIC .99092 Confirmed somatic variant 416 fresh/frozen - NOS primary 53 ENSP00000445596.2:p.Lys11Ter ENST00000545638.2:c.31A>T 12:g.54499433A>T CLEC2A_ENST00000339766 ENST00000339766.8 483 24191 S02402_1 2480928 2343673 lung NS NS NS carcinoma small_cell_carcinoma NS NS y COSV60272474 COSM5700138 105097914 c.126C>A p.C42* Substitution - Nonsense 38 12:9926273-9926273 - - NEUTRAL .04679 Confirmed somatic variant 26168399 surgery fresh/frozen primary 57 ENSP00000339732.4:p.Cys42Ter ENST00000339766.8:c.126C>A 12:g.9926273G>T ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 GBM20-R1 2813468 2669860 central_nervous_system brain NS NS glioma gliomatosis_cerebri NS NS y COSV101458495 COSM9208634 138588349 c.1356G>A p.W452* Substitution - Nonsense 38 3:78670180-78670180 - - PATHOGENIC .98594 Confirmed somatic variant 28263318 surgery fresh/frozen recurrent 57 ENSP00000420637.1:p.Trp452Ter ENST00000495273.5:c.1356G>A 3:g.78670180C>T LGI1_ENST00000636155 ENST00000636155.1 864 6572 TCGA-GN-A263-01 2121793 1996029 skin NS NS NS malignant_melanoma NS NS NS y COSV65057938 COSM3441736 171512202 c.742G>T p.E248* Substitution - Nonsense 38 10:93793254-93793254 + - PATHOGENIC .94241 Confirmed somatic variant 540 NS NS 24 ENSP00000490355.1:p.Glu248Ter ENST00000636155.1:c.742G>T 10:g.93793254G>T PCSK5 ENST00000545128.5 5583 8747 PD13623a 1892095 1781448 breast NS NS NS carcinoma ductal_carcinoma NS NS y COSV65093885 COSM5786818 157723691 c.404G>A p.W135* Substitution - Nonsense 38 9:75986238-75986238 + - PATHOGENIC .96966 Confirmed somatic variant 652 NS NS 68 ENSP00000446280.1:p.Trp135Ter ENST00000545128.5:c.404G>A 9:g.75986238G>A PLD1 ENST00000351298.8 3225 9067 CRC_46 2872790 2727784 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV60565265 COSM1041300 109073518 c.973G>T p.E325* Substitution - Nonsense 38 3:171709648-171709648 - - PATHOGENIC .939 Confirmed somatic variant 30239619 surgery - NOS NS ENSP00000342793.4:p.Glu325Ter ENST00000351298.8:c.973G>T 3:g.171709648C>A CEP44 ENST00000457424.6 1200 29356 TCGA-DF-A2KN-01 2457388 2320225 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV99639385 COSM9001184 131009858 c.736G>T p.E246* Substitution - Nonsense 38 4:174309907-174309907 + - PATHOGENIC .97419 Confirmed somatic variant 419 NS primary ENSP00000389427.2:p.Glu246Ter ENST00000457424.6:c.736G>T 4:g.174309907G>T CEP44 ENST00000457424.6 1200 29356 TCGA-FW-A3R5-06 2185962 2054259 skin NS NS NS malignant_melanoma NS NS NS y COSV56659357 COSM3917464 131012142 c.292C>T p.Q98* Substitution - Nonsense 38 4:174303757-174303757 + - PATHOGENIC .90149 Confirmed somatic variant 540 NS NS 68 ENSP00000389427.2:p.Gln98Ter ENST00000457424.6:c.292C>T 4:g.174303757C>T NCKAP1L_ENST00000545638 ENST00000545638.2 3234 4862 TCGA-AP-A056-01 1783334 1687333 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV99515036 COSM9057816 154590534 c.427G>T p.E143* Substitution - Nonsense 38 12:54509739-54509739 + - PATHOGENIC .98743 Confirmed somatic variant 419 fresh/frozen - NOS primary 64 ENSP00000445596.2:p.Glu143Ter ENST00000545638.2:c.427G>T 12:g.54509739G>T SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 TCGA-EY-A1H0-01 2198319 2066597 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV99582607 COSM8892401 177480837 c.1501G>T p.G501* Substitution - Nonsense 38 21:14500684-14500684 - - PATHOGENIC .9884 Confirmed somatic variant 419 NS NS 57 ENSP00000493867.1:p.Gly501Ter ENST00000647101.1:c.1501G>T 21:g.14500684C>A SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 2492703 2492703 2355318 skin NS NS NS malignant_melanoma NS NS NS y COSV53467645 COSM1720324 177477417 c.1345C>T p.R449* Substitution - Nonsense 38 21:14510414-14510414 - - PATHOGENIC .96323 Confirmed somatic variant 26286987 surgery fresh/frozen metastasis ENSP00000493867.1:p.Arg449Ter ENST00000647101.1:c.1345C>T 21:g.14510414G>A TBL1X_ENST00000424279 ENST00000424279.5 1581 11585 T3049 2296163 2161766 large_intestine colon transverse NS carcinoma adenocarcinoma NS NS y COSV54274318 COSM4732467 126373832 c.623G>A p.W208* Substitution - Nonsense 38 23:9692139-9692139 + - PATHOGENIC .99047 Confirmed somatic variant 25344691 NS NS 74.41 ENSP00000394097.1:p.Trp208Ter ENST00000424279.5:c.623G>A X:g.9692139G>A CEP44 ENST00000457424.6 1200 29356 WD_09 2688643 2547625 skin hand NS NS carcinoma squamous_cell_carcinoma NS NS y COSV56660395 COSM6900620 131011985 c.379C>T p.Q127* Substitution - Nonsense het 38 4:174303844-174303844 + - NEUTRAL .30936 Confirmed somatic variant 24662767 surgery fresh/frozen NS 58 ENSP00000389427.2:p.Gln127Ter ENST00000457424.6:c.379C>T 4:g.174303844C>T NCKAP1L_ENST00000545638 ENST00000545638.2 3234 4862 YUAKER 2013574 1896206 skin NS NS NS malignant_melanoma NS NS NS y COSV53213187 COSM1362811 154591892 c.2226G>A p.W742* Substitution - Nonsense het 38 12:54528247-54528247 + - PATHOGENIC .98847 Confirmed somatic variant 22842228 NS NS ENSP00000445596.2:p.Trp742Ter ENST00000545638.2:c.2226G>A 12:g.54528247G>A SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 3T35 2745730 2604433 oesophagus NS NS NS carcinoma NS NS NS y COSV53468258 COSM4981086 177479346 c.1804G>T p.E602* Substitution - Nonsense 38 21:14498445-14498445 - - PATHOGENIC .99711 Confirmed somatic variant 582 NS primary 58 ENSP00000493867.1:p.Glu602Ter ENST00000647101.1:c.1804G>T 21:g.14498445C>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 GBM20-R3 2813470 2669862 central_nervous_system brain NS NS glioma gliomatosis_cerebri NS NS y COSV101458495 COSM9208634 138588349 c.1356G>A p.W452* Substitution - Nonsense 38 3:78670180-78670180 - - PATHOGENIC .98594 Confirmed somatic variant 28263318 surgery fresh/frozen recurrent 57 ENSP00000420637.1:p.Trp452Ter ENST00000495273.5:c.1356G>A 3:g.78670180C>T LGI1_ENST00000636155 ENST00000636155.1 864 6572 CSCC-62-T 2292493 2158557 skin head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV65058847 COSM4505869 171511497 c.703C>T p.Q235* Substitution - Nonsense het 38 10:93793215-93793215 + - PATHOGENIC .90913 Confirmed somatic variant 25303977 surgery fresh/frozen primary 37 ENSP00000490355.1:p.Gln235Ter ENST00000636155.1:c.703C>T 10:g.93793215C>T PCSK5 ENST00000545128.5 5583 8747 W16T 2745047 2603750 thyroid NS NS NS carcinoma NS NS NS y COSV70449236 COSM6398393 157709171 c.3051C>A p.C1017* Substitution - Nonsense 38 9:76239143-76239143 + - PATHOGENIC .83941 Confirmed somatic variant 676 NS primary 40 ENSP00000446280.1:p.Cys1017Ter ENST00000545128.5:c.3051C>A 9:g.76239143C>A CEP44 ENST00000457424.6 1200 29356 TCGA-DU-A6S7-01 2262784 2129768 central_nervous_system brain NS NS glioma NS NS NS y COSV99639640 COSM8266094 131009012 c.283C>T p.Q95* Substitution - Nonsense 38 4:174303748-174303748 + - PATHOGENIC .90134 Confirmed somatic variant 545 NS primary 27 ENSP00000389427.2:p.Gln95Ter ENST00000457424.6:c.283C>T 4:g.174303748C>T NCKAP1L_ENST00000545638 ENST00000545638.2 3234 4862 ILMN23 2816783 2673134 large_intestine colon sigmoid NS carcinoma adenocarcinoma NS NS y COSV104394667 COSM9239683 154596795 c.490C>T p.R164* Substitution - Nonsense 38 12:54509890-54509890 + - PATHOGENIC .92372 Confirmed somatic variant 29937994 surgery fresh/frozen NS 32 ENSP00000445596.2:p.Arg164Ter ENST00000545638.2:c.490C>T 12:g.54509890C>T MAN1A1 ENST00000368468.3 1962 6821 TCGA-C8-A1HM-01 1900025 1788709 breast NS NS NS carcinoma NS NS NS y COSV100870608 COSM7674203 111604860 c.1507G>T p.E503* Substitution - Nonsense 38 6:119189703-119189703 - - PATHOGENIC .98849 Confirmed somatic variant 414 fresh/frozen - NOS primary 74 ENSP00000357453.3:p.Glu503Ter ENST00000368468.3:c.1507G>T 6:g.119189703C>A PCSK5 ENST00000545128.5 5583 8747 TCGA-5L-AAT1-01 2386099 2248931 breast NS NS NS carcinoma NS NS NS y COSV101377690 COSM7704268 157717749 c.3982G>T p.E1328* Substitution - Nonsense 38 9:76321600-76321600 + - PATHOGENIC .79802 Confirmed somatic variant 414 NS primary 63 ENSP00000446280.1:p.Glu1328Ter ENST00000545128.5:c.3982G>T 9:g.76321600G>T CEP44 ENST00000457424.6 1200 29356 TCGA-AX-A2HD-01 2198411 2066689 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV99639483 COSM9027776 131008960 c.150C>A p.Y50* Substitution - Nonsense 38 4:174302099-174302099 + - .56667 Confirmed somatic variant 419 NS NS 69 ENSP00000389427.2:p.Tyr50Ter ENST00000457424.6:c.150C>A 4:g.174302099C>A SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 TCGA-BR-A4QM-01 2198057 2066335 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV53475909 COSM4100829 177478714 c.1594C>T p.R532* Substitution - Nonsense 38 21:14500591-14500591 - - NEUTRAL .14284 Confirmed somatic variant 541 NS NS 65 ENSP00000493867.1:p.Arg532Ter ENST00000647101.1:c.1594C>T 21:g.14500591G>A SPOCD1_ENST00000452755 ENST00000452755.6 1920 26338 Patient2 1834939 1729971 ovary NS NS NS carcinoma serous_carcinoma NS NS y COSV57094312 COSM1166858 132322864 c.478C>T p.Q160* Substitution - Nonsense 38 1:31796694-31796694 - - .68548 Variant of unknown origin 22996961 surgery - NOS NS ENSP00000399778.2:p.Gln160Ter ENST00000452755.6:c.478C>T 1:g.31796694G>A SPOCD1_ENST00000452755 ENST00000452755.6 1920 26338 PD37592c 2894863 2749351 NS NS NS NS malignant_melanoma NS NS NS y COSV105820269 COSM9877693 132323664 c.665T>G p.L222* Substitution - Nonsense 38 1:31794150-31794150 - - Confirmed somatic variant 33024263 surgery-fixed metastasis 18 ENSP00000399778.2:p.Leu222Ter ENST00000452755.6:c.665T>G 1:g.31794150A>C PCSK5 ENST00000545128.5 5583 8747 TCGA-DD-AADN-01 2339362 2204345 liver NS NS NS carcinoma hepatocellular_carcinoma NS NS y COSV101377696 COSM8408988 157741067 c.4615C>T p.R1539* Substitution - Nonsense 38 9:76332558-76332558 + - NEUTRAL .12804 Confirmed somatic variant 628 NS primary 59 ENSP00000446280.1:p.Arg1539Ter ENST00000545128.5:c.4615C>T 9:g.76332558C>T NCKAP1L_ENST00000545638 ENST00000545638.2 3234 4862 TCGA-CM-6168-01 1651230 1566017 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS y COSV53213187 COSM1362811 154591892 c.2226G>A p.W742* Substitution - Nonsense 38 12:54528247-54528247 + - PATHOGENIC .98847 Confirmed somatic variant 376 NS NS 84 ENSP00000445596.2:p.Trp742Ter ENST00000545638.2:c.2226G>A 12:g.54528247G>A SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 TCGA-CA-6717-01 1651188 1565975 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS y COSV53477050 COSM3693723 177479116 c.941C>A p.S314* Substitution - Nonsense 38 21:14582140-14582140 - - .61339 Confirmed somatic variant 376 NS NS 57 ENSP00000493867.1:p.Ser314Ter ENST00000647101.1:c.941C>A 21:g.14582140G>T SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 ILMN13 2816773 2673124 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS y COSV53467645 COSM1720324 177477417 c.1345C>T p.R449* Substitution - Nonsense 38 21:14510414-14510414 - - PATHOGENIC .96323 Confirmed somatic variant 29937994 surgery fresh/frozen NS 54 ENSP00000493867.1:p.Arg449Ter ENST00000647101.1:c.1345C>T 21:g.14510414G>A SPOCD1_ENST00000452755 ENST00000452755.6 1920 26338 CSCC-55-T 2292487 2158551 skin head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV57095297 COSM4539807 132321610 c.1047G>A p.W349* Substitution - Nonsense het 38 1:31792714-31792714 - - PATHOGENIC .90574 Confirmed somatic variant 25303977 surgery fresh/frozen metastasis 71 ENSP00000399778.2:p.Trp349Ter ENST00000452755.6:c.1047G>A 1:g.31792714C>T ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 T3340 2296216 2161819 large_intestine caecum NS NS carcinoma adenocarcinoma NS NS y COSV71391878 COSM4722324 138611199 c.763C>T p.R255* Substitution - Nonsense 38 3:78717312-78717312 - - PATHOGENIC .81699 Confirmed somatic variant 25344691 NS NS 67 ENSP00000420637.1:p.Arg255Ter ENST00000495273.5:c.763C>T 3:g.78717312G>A CELSR1 ENST00000262738.7 9045 1850 LIM1215 2301991 2167274 large_intestine colon right NS carcinoma adenocarcinoma NS NS y COSV53084988 COSM4300570 101663416 c.1063C>T p.Q355* Substitution - Nonsense het 38 22:46536108-46536108 - - PATHOGENIC .95889 Variant of unknown origin 24755471 cell-line NS ENSP00000262738.3:p.Gln355Ter ENST00000262738.7:c.1063C>T 22:g.46536108G>A CELSR1 ENST00000262738.7 9045 1850 TCGA-64-5781-01 1780196 1684195 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV53101054 COSM6095579 101653949 c.6191G>A p.W2064* Substitution - Nonsense 38 22:46391245-46391245 - - PATHOGENIC .94918 Variant of unknown origin 417 fresh/frozen - NOS primary 55 ENSP00000262738.3:p.Trp2064Ter ENST00000262738.7:c.6191G>A 22:g.46391245C>T PCSK5 ENST00000545128.5 5583 8747 CHG-13-09089T 2634309 2494705 liver NS NS NS other neoplasm NS NS y COSV70453699 COSM6296503 157733047 c.5338G>T p.E1780* Substitution - Nonsense 38 9:76358677-76358677 + - PATHOGENIC .92475 Confirmed somatic variant 660 NS primary 67 ENSP00000446280.1:p.Glu1780Ter ENST00000545128.5:c.5338G>T 9:g.76358677G>T SPOCD1_ENST00000452755 ENST00000452755.6 1920 26338 TCGA-AB-2826-03 1650318 1565105 haematopoietic_and_lymphoid_tissue NS NS NS haematopoietic_neoplasm acute_myeloid_leukaemia NS NS y COSV99930451 COSM7630706 132322773 c.586C>T p.Q196* Substitution - Nonsense 38 1:31794229-31794229 - - NEUTRAL .03108 Confirmed somatic variant 377 blood-bone marrow NS 64 ENSP00000399778.2:p.Gln196Ter ENST00000452755.6:c.586C>T 1:g.31794229G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 2857096 2857096 2712396 urinary_tract bladder NS NS carcinoma transitional_cell_carcinoma NS NS y COSV105355782 COSM9526075 138610518 c.925C>T p.Q309* Substitution - Nonsense 38 3:78714400-78714400 - - PATHOGENIC .99751 Confirmed somatic variant 25096233 surgery - NOS NS ENSP00000420637.1:p.Gln309Ter ENST00000495273.5:c.925C>T 3:g.78714400G>A MAN1A1 ENST00000368468.3 1962 6821 19M 2466832 2329663 skin scalp NS NS malignant_melanoma desmoplastic NS NS y COSV63781353 COSM3170952 111605829 c.904C>T p.R302* Substitution - Nonsense 38 6:119248348-119248348 - - PATHOGENIC .93862 Confirmed somatic variant 26343386 surgery fresh/frozen NS 79 ENSP00000357453.3:p.Arg302Ter ENST00000368468.3:c.904C>T 6:g.119248348G>A CELSR1 ENST00000262738.7 9045 1850 PD42096c 2894839 2749327 skin trunk NS NS malignant_melanoma superficial_spreading NS NS y COSV105011431 COSM9892720 101671915 c.6619C>T p.Q2207* Substitution - Nonsense 38 22:46386522-46386522 - - PATHOGENIC .943 Variant of unknown origin 33024263 surgery-fixed metastasis ENSP00000262738.3:p.Gln2207Ter ENST00000262738.7:c.6619C>T 22:g.46386522G>A PCSK5 ENST00000545128.5 5583 8747 TCGA-FS-A1ZW-06 2121771 1996007 skin NS NS NS malignant_melanoma NS NS NS y COSV70451329 COSM3658382 157700550 c.2771G>A p.W924* Substitution - Nonsense 38 9:76233501-76233501 + - .56695 Confirmed somatic variant 540 NS NS 65 ENSP00000446280.1:p.Trp924Ter ENST00000545128.5:c.2771G>A 9:g.76233501G>A NCKAP1L_ENST00000545638 ENST00000545638.2 3234 4862 TCGA-EE-A2MJ-06 2121681 1995917 skin NS NS NS malignant_melanoma NS NS NS y COSV53203561 COSM549134 154593804 c.2437C>T p.Q813* Substitution - Nonsense 38 12:54531340-54531340 + - PATHOGENIC .97919 Confirmed somatic variant 540 NS NS 60 ENSP00000445596.2:p.Gln813Ter ENST00000545638.2:c.2437C>T 12:g.54531340C>T NCKAP1L_ENST00000545638 ENST00000545638.2 3234 4862 CRC_46 2872790 2727784 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV105874414 COSM9944440 154593900 c.1282G>T p.E428* Substitution - Nonsense 38 12:54518925-54518925 + - PATHOGENIC .99207 Confirmed somatic variant 30239619 surgery - NOS NS ENSP00000445596.2:p.Glu428Ter ENST00000545638.2:c.1282G>T 12:g.54518925G>T SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 ILMN13 2816773 2673124 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS y COSV104374913 COSM9255213 177480964 c.1051G>T p.E351* Substitution - Nonsense 38 21:14517008-14517008 - - PATHOGENIC .93667 Confirmed somatic variant 29937994 surgery fresh/frozen NS 54 ENSP00000493867.1:p.Glu351Ter ENST00000647101.1:c.1051G>T 21:g.14517008C>A SPOCD1_ENST00000452755 ENST00000452755.6 1920 26338 ESCC_152 2727922 2586736 oesophagus NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV57099840 COSM6990208 132322160 c.1868T>A p.L623* Substitution - Nonsense 38 1:31790655-31790655 - - NEUTRAL .28882 Confirmed somatic variant 28548104 surgery - NOS primary 62 ENSP00000399778.2:p.Leu623Ter ENST00000452755.6:c.1868T>A 1:g.31790655A>T ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-AP-A0LF-01 1783346 1687345 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV71397442 COSM1048588 138602257 c.3874G>T p.E1292* Substitution - Nonsense 38 3:78617908-78617908 - - PATHOGENIC .98701 Confirmed somatic variant 419 fresh/frozen - NOS primary 82 ENSP00000420637.1:p.Glu1292Ter ENST00000495273.5:c.3874G>T 3:g.78617908C>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 PD4935a 1456086 1380059 breast NS NS NS carcinoma HER-positive_carcinoma NS NS y COSV71397865 COSM164069 138606871 c.4649C>G p.S1550* Substitution - Nonsense 38 3:78600270-78600270 - - PATHOGENIC .97479 Confirmed somatic variant 22722201 385 NS primary ENSP00000420637.1:p.Ser1550Ter ENST00000495273.5:c.4649C>G 3:g.78600270G>C ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 PD4935a 1456086 1380059 breast NS NS NS carcinoma HER-positive_carcinoma NS NS y COSV71397865 COSM164069 138606871 c.4649C>G p.S1550* Substitution - Nonsense 38 3:78600270-78600270 - - PATHOGENIC .97479 Confirmed somatic variant 22608084 385 NS primary ENSP00000420637.1:p.Ser1550Ter ENST00000495273.5:c.4649C>G 3:g.78600270G>C ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 PD4935a 1456086 1380059 breast NS NS NS carcinoma HER-positive_carcinoma NS NS y COSV71397865 COSM164069 138606871 c.4649C>G p.S1550* Substitution - Nonsense 38 3:78600270-78600270 - - PATHOGENIC .97479 Confirmed somatic variant 385 NS primary ENSP00000420637.1:p.Ser1550Ter ENST00000495273.5:c.4649C>G 3:g.78600270G>C SPOCD1_ENST00000452755 ENST00000452755.6 1920 26338 TCGA-EE-A29E-06 2121636 1995872 skin NS NS NS malignant_melanoma NS NS NS y COSV57098956 COSM3488053 132322902 c.1414C>T p.Q472* Substitution - Nonsense 38 1:31791109-31791109 - - NEUTRAL .21848 Confirmed somatic variant 540 NS NS 54 ENSP00000399778.2:p.Gln472Ter ENST00000452755.6:c.1414C>T 1:g.31791109G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-55-A4DF-01 2194896 2063174 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV101459346 COSM7737892 138566298 c.661G>T p.E221* Substitution - Nonsense 38 3:78717763-78717763 - - PATHOGENIC .99767 Confirmed somatic variant 417 NS NS 88 ENSP00000420637.1:p.Glu221Ter ENST00000495273.5:c.661G>T 3:g.78717763C>A LGI1_ENST00000636155 ENST00000636155.1 864 6572 TCGA-ER-A193-06 2121705 1995941 skin NS NS NS malignant_melanoma NS NS NS y COSV65058002 COSM3441731 171512318 c.13A>T p.R5* Substitution - Nonsense 38 10:93758157-93758157 + - .65433 Confirmed somatic variant 540 NS NS 62 ENSP00000490355.1:p.Arg5Ter ENST00000636155.1:c.13A>T 10:g.93758157A>T MAN1A1 ENST00000368468.3 1962 6821 1N56-VS-1T56 2363568 2226495 oesophagus NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV63784739 COSM4977263 111605307 c.796G>T p.E266* Substitution - Nonsense 38 6:119302008-119302008 - - PATHOGENIC .78723 Confirmed somatic variant 25839328 NS NS 69 ENSP00000357453.3:p.Glu266Ter ENST00000368468.3:c.796G>T 6:g.119302008C>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 LUAD-S00484 1765221 1669541 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV50365649 COSM342863 97391248 c.775C>T p.Q259* Substitution - Nonsense 38 17:47156980-47156980 - - PATHOGENIC .98254 Variant of unknown origin 22980975 surgery - NOS primary 45 ENSP00000066544.3:p.Gln259Ter ENST00000066544.7:c.775C>T 17:g.47156980G>A GAB4_ENST00000643316 ENST00000643316.1 2055 18325 TCGA-B5-A11R-01 1783409 1687408 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV68754939 COSM1031819 174751719 c.2027C>G p.S676* Substitution - Nonsense het 38 22:16962761-16962761 - - PATHOGENIC .77516 Variant of unknown origin 419 fresh/frozen - NOS primary 51 ENSP00000495950.1:p.Ser676Ter ENST00000643316.1:c.2027C>G 22:g.16962761G>C SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 T3080 2658253 2518412 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV53475146 COSM4723598 177477582 c.1453G>T p.G485* Substitution - Nonsense 38 21:14500732-14500732 - - PATHOGENIC .99187 Confirmed somatic variant 27149842 NS NS 74.66 ENSP00000493867.1:p.Gly485Ter ENST00000647101.1:c.1453G>T 21:g.14500732C>A SPOCD1_ENST00000452755 ENST00000452755.6 1920 26338 2492729 2492729 2355343 skin NS NS NS malignant_melanoma NS NS NS y COSV57097013 COSM4538809 132322459 c.909G>A p.W303* Substitution - Nonsense 38 1:31793362-31793362 - - PATHOGENIC .82891 Confirmed somatic variant 26286987 surgery fresh/frozen metastasis ENSP00000399778.2:p.Trp303Ter ENST00000452755.6:c.909G>A 1:g.31793362C>T SPOCD1_ENST00000452755 ENST00000452755.6 1920 26338 YUROC 2439362 2302203 skin NS NS NS malignant_melanoma NS NS NS y COSV57098788 COSM5380640 132321590 c.1046G>A p.W349* Substitution - Nonsense het 38 1:31792715-31792715 - - PATHOGENIC .90574 Confirmed somatic variant 26214590 fresh/frozen - NOS metastasis 50 ENSP00000399778.2:p.Trp349Ter ENST00000452755.6:c.1046G>A 1:g.31792715C>T CELSR1 ENST00000262738.7 9045 1850 LOVO 2301996 2167279 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV53096598 COSM3063764 101656863 c.6195G>A p.W2065* Substitution - Nonsense het 38 22:46391241-46391241 - - PATHOGENIC .95953 Variant of unknown origin 24755471 cell-line NS ENSP00000262738.3:p.Trp2065Ter ENST00000262738.7:c.6195G>A 22:g.46391241C>T CELSR1 ENST00000262738.7 9045 1850 HCC6T 1919228 1806549 liver NS NS NS carcinoma NS NS NS y COSV53085351 COSM1616570 101663727 c.3475G>T p.E1159* Substitution - Nonsense het 38 22:46533696-46533696 - - PATHOGENIC .96062 Reported in another cancer sample as somatic 323 fresh/frozen - NOS primary ENSP00000262738.3:p.Glu1159Ter ENST00000262738.7:c.3475G>T 22:g.46533696C>A CELSR1 ENST00000262738.7 9045 1850 TCGA-18-3421-01 1780425 1684424 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV53085280 COSM726819 101670185 c.8596C>T p.Q2866* Substitution - Nonsense 38 22:46364695-46364695 - - .65029 Variant of unknown origin 418 fresh/frozen - NOS primary 65 ENSP00000262738.3:p.Gln2866Ter ENST00000262738.7:c.8596C>T 22:g.46364695G>A GCH1 ENST00000491895.6 753 4193 TCGA-UC-A7PG-01 2339995 2204978 cervix NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99582080 COSM8644427 141328800 c.544C>T p.Q182* Substitution - Nonsense 38 14:54845850-54845850 - - PATHOGENIC .99772 Confirmed somatic variant 415 NS primary 44 ENSP00000419045.2:p.Gln182Ter ENST00000491895.6:c.544C>T 14:g.54845850G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MBC503 2807289 2663993 breast NS NS NS carcinoma NS NS NS n COSV99295057 COSM9119807 97375946 c.1402G>T p.E468* Substitution - Nonsense 38 17:47142002-47142002 - - PATHOGENIC .98957 Variant of unknown origin 31340200 surgery - NOS NS ENSP00000066544.3:p.Glu468Ter ENST00000066544.7:c.1402G>T 17:g.47142002C>A GAB4_ENST00000643316 ENST00000643316.1 2055 18325 LUAD-RT-S01777 1765251 1669571 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV68754708 COSM382259 174752625 c.701_702delinsAA p.S234* Substitution - Nonsense 38 22:16970178-16970179 - - Variant of unknown origin 22980975 surgery - NOS primary 62 ENSP00000495950.1:p.Ser234Ter ENST00000643316.1:c.701_702delinsAA 22:g.16970178_16970179delinsTT LGI1_ENST00000636155 ENST00000636155.1 864 6572 8047575 2121148 1995384 pancreas NS NS NS carcinoma ductal_carcinoma NS NS y COSV65059240 COSM3383102 171513610 c.226A>T p.R76* Substitution - Nonsense 38 10:93758770-93758770 + - PATHOGENIC .95116 Confirmed somatic variant 328 NS NS ENSP00000490355.1:p.Arg76Ter ENST00000636155.1:c.226A>T 10:g.93758770A>T CDC27_ENST00000066544 ENST00000066544.7 2475 1728 HCC1195 2776293 2634429 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV99030064 COSM7360363 97381975 c.742G>T p.G248* Substitution - Nonsense 38 17:47157013-47157013 - - PATHOGENIC .97852 Variant of unknown origin 29681454 NS NS 47 ENSP00000066544.3:p.Gly248Ter ENST00000066544.7:c.742G>T 17:g.47157013C>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-117-tumor 2819039 2675338 meninges NS NS NS meningioma angiomatous NS NS n COSV50372555 COSM2696224 97390366 c.1538C>G p.S513* Substitution - Nonsense 38 17:47141866-47141866 - - PATHOGENIC .994 Variant of unknown origin 28713588 surgery - NOS NS ENSP00000066544.3:p.Ser513Ter ENST00000066544.7:c.1538C>G 17:g.47141866G>C GAB4_ENST00000643316 ENST00000643316.1 2055 18325 2834132 2834132 2689916 skin mucosal anorectal NS malignant_melanoma NS NS NS y COSV104705651 COSM9333806 174755412 c.1333G>T p.E445* Substitution - Nonsense 38 22:16968318-16968318 - - PATHOGENIC .96575 Variant of unknown origin 28296713 surgery - NOS primary 55 ENSP00000495950.1:p.Glu445Ter ENST00000643316.1:c.1333G>T 22:g.16968318C>A PLPP5 ENST00000424479.6 795 25026 W28T 2745052 2603755 thyroid NS NS NS carcinoma NS NS NS y COSV57668350 COSM6364652 122895770 c.121G>T p.E41* Substitution - Nonsense 38 8:38268944-38268944 - - PATHOGENIC .93428 Confirmed somatic variant 676 NS primary 32 ENSP00000392553.2:p.Glu41Ter ENST00000424479.6:c.121G>T 8:g.38268944C>A LGI1_ENST00000636155 ENST00000636155.1 864 6572 MBC_187 2662689 2522813 breast NS NS NS carcinoma ER-PR-positive_carcinoma NS NS y COSV65057328 COSM6583540 171511846 c.28G>T p.G10* Substitution - Nonsense 38 10:93758172-93758172 + - PATHOGENIC .96061 Confirmed somatic variant 28027327 fresh/frozen - NOS metastasis ENSP00000490355.1:p.Gly10Ter ENST00000636155.1:c.28G>T 10:g.93758172G>T HIPK3_ENST00000525975 ENST00000525975.5 3585 4915 TCGA-75-5126-01 1780223 1684222 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV57564651 COSM6068536 149196515 c.547C>T p.Q183* Substitution - Nonsense 38 11:33286961-33286961 + - PATHOGENIC .98547 Variant of unknown origin 417 fresh/frozen - NOS primary ENSP00000431710.1:p.Gln183Ter ENST00000525975.5:c.547C>T 11:g.33286961C>T CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-273-tumor 2819121 2675420 meninges NS NS NS meningioma anaplastic NS NS n COSV50372555 COSM2696224 97390366 c.1538C>G p.S513* Substitution - Nonsense 38 17:47141866-47141866 - - PATHOGENIC .994 Variant of unknown origin 28713588 surgery - NOS NS ENSP00000066544.3:p.Ser513Ter ENST00000066544.7:c.1538C>G 17:g.47141866G>C CDC27_ENST00000066544 ENST00000066544.7 2475 1728 TCGA-D1-A16X-01 1783518 1687517 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV50367727 COSM980365 97385952 c.1846G>T p.E616* Substitution - Nonsense het 38 17:47137219-47137219 - - PATHOGENIC .98859 Variant of unknown origin 419 fresh/frozen - NOS primary 54 ENSP00000066544.3:p.Glu616Ter ENST00000066544.7:c.1846G>T 17:g.47137219C>A RGS6_ENST00000555571 ENST00000555571.5 1419 10002 EXTERN_MELA_20140526_069 2839358 2695124 skin shoulder NS NS malignant_melanoma NS NS NS y COSV104644808 COSM9468941 156304863 c.981_982delinsTT p.Q327_Q328delinsH* Substitution - Nonsense 38 14:72510169-72510170 + - Confirmed somatic variant 28467829 surgery fresh/frozen primary ENSP00000450936.1:p.Gln327_Gln328delinsHisTer ENST00000555571.5:c.981_982delinsTT 14:g.72510169_72510170delinsTT RGS6_ENST00000555571 ENST00000555571.5 1419 10002 ESCC_172 2727931 2586745 oesophagus middle_third NS NS carcinoma squamous_cell_carcinoma NS NS y COSV59573357 COSM1370897 156303911 c.652C>T p.R218* Substitution - Nonsense 38 14:72474658-72474658 + - PATHOGENIC .79504 Confirmed somatic variant 28548104 surgery - NOS primary 70 ENSP00000450936.1:p.Arg218Ter ENST00000555571.5:c.652C>T 14:g.72474658C>T PLPP5 ENST00000424479.6 795 25026 Thyroid-CN-WZ042T 2635103 2495499 thyroid NS NS NS carcinoma NS NS NS y COSV57668350 COSM6364652 122895770 c.121G>T p.E41* Substitution - Nonsense 38 8:38268944-38268944 - - PATHOGENIC .93428 Confirmed somatic variant 676 NS primary 32 ENSP00000392553.2:p.Glu41Ter ENST00000424479.6:c.121G>T 8:g.38268944C>A PLPP5 ENST00000424479.6 795 25026 TCGA-34-8454-01 2263428 2130412 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV100395453 COSM8687495 122895395 c.147C>G p.Y49* Substitution - Nonsense 38 8:38268918-38268918 - - NEUTRAL .2445 Confirmed somatic variant 418 NS primary 62 ENSP00000392553.2:p.Tyr49Ter ENST00000424479.6:c.147C>G 8:g.38268918G>C SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 TCGA-DU-7301-01 2194381 2062659 central_nervous_system brain NS NS glioma NS NS NS y COSV53478162 COSM3972715 177478505 c.995C>A p.S332* Substitution - Nonsense 38 21:14521172-14521172 - - PATHOGENIC .95968 Confirmed somatic variant 545 NS NS 53 ENSP00000493867.1:p.Ser332Ter ENST00000647101.1:c.995C>A 21:g.14521172G>T SPOCD1_ENST00000452755 ENST00000452755.6 1920 26338 CSCC-11-T 2292462 2158526 skin head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV57097013 COSM4538809 132322459 c.909G>A p.W303* Substitution - Nonsense het 38 1:31793362-31793362 - - PATHOGENIC .82891 Confirmed somatic variant 25303977 surgery fresh/frozen primary 52 ENSP00000399778.2:p.Trp303Ter ENST00000452755.6:c.909G>A 1:g.31793362C>T LGI1_ENST00000636155 ENST00000636155.1 864 6572 TCGA-28-1746-01 2178128 2046426 central_nervous_system brain NS NS glioma astrocytoma_Grade_IV glioblastoma_multiforme NS y COSV101004356 COSM7461230 171511696 c.106A>T p.K36* Substitution - Nonsense 38 10:93758250-93758250 + - PATHOGENIC .87462 Confirmed somatic variant 329 NS NS 77 ENSP00000490355.1:p.Lys36Ter ENST00000636155.1:c.106A>T 10:g.93758250A>T LGI1_ENST00000636155 ENST00000636155.1 864 6572 TCGA-EE-A3AA-06 2121692 1995928 skin NS NS NS malignant_melanoma NS NS NS y COSV65057328 COSM6583540 171511846 c.28G>T p.G10* Substitution - Nonsense 38 10:93758172-93758172 + - PATHOGENIC .96061 Confirmed somatic variant 540 NS NS 47 ENSP00000490355.1:p.Gly10Ter ENST00000636155.1:c.28G>T 10:g.93758172G>T LOX_ENST00000639739 ENST00000639739.1 1251 6664 TCGA-NC-A5HF-01 2385904 2248736 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99140692 COSM8806622 175443425 c.847A>T p.R283* Substitution - Nonsense 38 5:122075435-122075435 - - PATHOGENIC .8191 Confirmed somatic variant 418 NS primary 74 ENSP00000492324.1:p.Arg283Ter ENST00000639739.1:c.847A>T 5:g.122075435T>A CELSR1 ENST00000262738.7 9045 1850 2857109 2857109 2712409 urinary_tract bladder NS NS carcinoma transitional_cell_carcinoma NS NS y COSV105011340 COSM9530306 101659668 c.2368C>T p.Q790* Substitution - Nonsense 38 22:46534803-46534803 - - PATHOGENIC .9485 Confirmed somatic variant 25096233 surgery - NOS NS ENSP00000262738.3:p.Gln790Ter ENST00000262738.7:c.2368C>T 22:g.46534803G>A HIPK3_ENST00000525975 ENST00000525975.5 3585 4915 TCGA-AX-A05Z-01 1783365 1687364 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV57561128 COSM926473 149192231 c.1225C>T p.R409* Substitution - Nonsense het 38 11:33337078-33337078 + - PATHOGENIC .94414 Variant of unknown origin 419 fresh/frozen - NOS primary 37 ENSP00000431710.1:p.Arg409Ter ENST00000525975.5:c.1225C>T 11:g.33337078C>T HIPK3_ENST00000525975 ENST00000525975.5 3585 4915 TCGA-AP-A056-01 1783334 1687333 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV57561128 COSM926473 149192231 c.1225C>T p.R409* Substitution - Nonsense het 38 11:33337078-33337078 + - PATHOGENIC .94414 Variant of unknown origin 419 fresh/frozen - NOS primary 64 ENSP00000431710.1:p.Arg409Ter ENST00000525975.5:c.1225C>T 11:g.33337078C>T HIPK3_ENST00000525975 ENST00000525975.5 3585 4915 HCC2344 2776340 2634476 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99079166 COSM7371144 149196763 c.1993C>T p.Q665* Substitution - Nonsense 38 11:33347388-33347388 + - PATHOGENIC .95478 Variant of unknown origin 29681454 NS NS 60 ENSP00000431710.1:p.Gln665Ter ENST00000525975.5:c.1993C>T 11:g.33347388C>T HIPK3_ENST00000525975 ENST00000525975.5 3585 4915 S00472 1759185 1663933 lung NS NS NS carcinoma small_cell_carcinoma NS NS y COSV57561121 COSM311778 149192591 c.835G>T p.E279* Substitution - Nonsense 38 11:33287249-33287249 + - PATHOGENIC .9927 Reported in another cancer sample as somatic 22941188 fresh/frozen - NOS NS 56 ENSP00000431710.1:p.Glu279Ter ENST00000525975.5:c.835G>T 11:g.33287249G>T HIPK3_ENST00000525975 ENST00000525975.5 3585 4915 TCGA-D1-A103-01 1783494 1687493 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV57561750 COSM926477 149192502 c.1489G>T p.E497* Substitution - Nonsense het 38 11:33339410-33339410 + - PATHOGENIC .95784 Reported in another cancer sample as somatic 419 fresh/frozen - NOS primary 87 ENSP00000431710.1:p.Glu497Ter ENST00000525975.5:c.1489G>T 11:g.33339410G>T CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-176-tumor 2819069 2675368 meninges NS NS NS meningioma meningothelial NS NS n COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 TCGA-A5-A0GP-01 1783315 1687314 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV50367727 COSM980365 97385952 c.1846G>T p.E616* Substitution - Nonsense het 38 17:47137219-47137219 - - PATHOGENIC .98859 Variant of unknown origin 419 fresh/frozen - NOS primary 58 ENSP00000066544.3:p.Glu616Ter ENST00000066544.7:c.1846G>T 17:g.47137219C>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-264-tumor 2819115 2675414 meninges NS NS NS meningioma atypical NS NS n COSV50369891 COSM4130259 97375980 c.761T>G p.L254* Substitution - Nonsense 38 17:47156994-47156994 - - PATHOGENIC .98732 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Leu254Ter ENST00000066544.7:c.761T>G 17:g.47156994A>C CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-071-tumor 2819007 2675306 meninges NS NS NS meningioma atypical NS NS n COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-270-tumor 2819119 2675418 meninges NS NS NS meningioma atypical NS NS n COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 PT50 2521307 2383650 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV53467645 COSM1720324 177477417 c.1345C>T p.R449* Substitution - Nonsense 38 21:14510414-14510414 - - PATHOGENIC .96323 Confirmed somatic variant 25759019 surgery fresh/frozen NS ENSP00000493867.1:p.Arg449Ter ENST00000647101.1:c.1345C>T 21:g.14510414G>A SPOCD1_ENST00000452755 ENST00000452755.6 1920 26338 YUGOE 2013621 1896253 skin NS NS NS malignant_melanoma NS NS NS y COSV57094540 COSM1687324 132323161 c.418C>T p.Q140* Substitution - Nonsense het 38 1:31798245-31798245 - - .57205 Confirmed somatic variant 22842228 NS NS ENSP00000399778.2:p.Gln140Ter ENST00000452755.6:c.418C>T 1:g.31798245G>A LGI1_ENST00000636155 ENST00000636155.1 864 6572 5-VS035-T1 2869860 2724857 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV105298789 COSM9745739 171513782 c.794G>A p.W265* Substitution - Nonsense 38 10:93793306-93793306 + - PATHOGENIC .9911 Confirmed somatic variant 26950094 surgery fresh/frozen NS 73 ENSP00000490355.1:p.Trp265Ter ENST00000636155.1:c.794G>A 10:g.93793306G>A C12orf74_ENST00000544406 ENST00000544406.2 522 27887 H1299 2776232 2634368 lung NS NS NS carcinoma large_cell_carcinoma NS NS y COSV67338257 COSM2045259 155889554 c.396T>G p.Y132* Substitution - Nonsense 38 12:92707027-92707027 + - NEUTRAL .02553 Variant of unknown origin 29681454 NS NS 43 ENSP00000446043.2:p.Tyr132Ter ENST00000544406.2:c.396T>G 12:g.92707027T>G LOX_ENST00000639739 ENST00000639739.1 1251 6664 MBC_29 2662730 2522854 breast NS NS NS carcinoma ER-PR-positive_carcinoma NS NS y COSV50242955 COSM6564277 175442114 c.199C>T p.Q67* Substitution - Nonsense 38 5:122077787-122077787 - - .66975 Confirmed somatic variant 28027327 fresh/frozen - NOS NS ENSP00000492324.1:p.Gln67Ter ENST00000639739.1:c.199C>T 5:g.122077787G>A LOX_ENST00000639739 ENST00000639739.1 1251 6664 T1241 2658238 2518397 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV50237881 COSM1486233 175442130 c.841C>T p.R281* Substitution - Nonsense 38 5:122075441-122075441 - - PATHOGENIC .82324 Confirmed somatic variant 27149842 NS NS 68 ENSP00000492324.1:p.Arg281Ter ENST00000639739.1:c.841C>T 5:g.122075441G>A PCSK5 ENST00000545128.5 5583 8747 S01578_1 2480856 2343601 lung NS NS NS carcinoma small_cell_carcinoma NS NS y COSV65084900 COSM5670727 157730761 c.2200A>T p.K734* Substitution - Nonsense 38 9:76184675-76184675 + - PATHOGENIC .91473 Confirmed somatic variant 26168399 surgery fresh/frozen primary 76 ENSP00000446280.1:p.Lys734Ter ENST00000545128.5:c.2200A>T 9:g.76184675A>T CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-270-tumor 2819119 2675418 meninges NS NS NS meningioma atypical NS NS n COSV50369891 COSM4130259 97375980 c.761T>G p.L254* Substitution - Nonsense 38 17:47156994-47156994 - - PATHOGENIC .98732 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Leu254Ter ENST00000066544.7:c.761T>G 17:g.47156994A>C CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-189-tumor 2819075 2675374 meninges NS NS NS meningioma chordoid NS NS n COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 1_RESISTANT 2062378 1942457 skin NS NS NS malignant_melanoma NS NS NS y COSV53467645 COSM1720324 177477417 c.1345C>T p.R449* Substitution - Nonsense hom 38 21:14510414-14510414 - - PATHOGENIC .96323 Confirmed somatic variant 24265154 surgery - NOS NS ENSP00000493867.1:p.Arg449Ter ENST00000647101.1:c.1345C>T 21:g.14510414G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-BR-A4QL-01 2197931 2066209 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV71391700 COSM4120376 138570756 c.403C>T p.Q135* Substitution - Nonsense 38 3:78746880-78746880 - - PATHOGENIC .99158 Confirmed somatic variant 541 NS NS 75 ENSP00000420637.1:p.Gln135Ter ENST00000495273.5:c.403C>T 3:g.78746880G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 S02-14875-TP 2366560 2229443 skin NS NS NS carcinoma squamous_cell_carcinoma NS NS n COSV71393699 COSM4992038 138561674 c.238C>T p.R80* Substitution - Nonsense het 38 3:78938745-78938745 - - PATHOGENIC .98091 Confirmed somatic variant 25589618 fixed - NOS metastasis ENSP00000420637.1:p.Arg80Ter ENST00000495273.5:c.238C>T 3:g.78938745G>A C12orf74_ENST00000544406 ENST00000544406.2 522 27887 2834139 2834139 2689923 skin mucosal female_genital_tract_(site_indeterminate) NS malignant_melanoma NS NS NS y COSV67337706 COSM3753530 155889230 c.490C>T p.R164* Substitution - Nonsense 38 12:92707121-92707121 + - NEUTRAL .02393 Reported in another cancer sample as somatic 28296713 surgery - NOS primary 47 ENSP00000446043.2:p.Arg164Ter ENST00000544406.2:c.490C>T 12:g.92707121C>T C12orf74_ENST00000544406 ENST00000544406.2 522 27887 PD42097a 2894838 2749326 skin head_neck NS NS malignant_melanoma nodular NS NS y COSV101188829 COSM8285909 155889878 c.412C>T p.Q138* Substitution - Nonsense 38 12:92707043-92707043 + - NEUTRAL .20719 Reported in another cancer sample as somatic 33024263 surgery-fixed metastasis ENSP00000446043.2:p.Gln138Ter ENST00000544406.2:c.412C>T 12:g.92707043C>T C12orf74_ENST00000544406 ENST00000544406.2 522 27887 TCGA-39-5011-01 2195042 2063320 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV101188836 COSM8746336 155889648 c.362C>G p.S121* Substitution - Nonsense 38 12:92706993-92706993 + - NEUTRAL .067 Confirmed somatic variant 418 NS NS 70 ENSP00000446043.2:p.Ser121Ter ENST00000544406.2:c.362C>G 12:g.92706993C>G LOX_ENST00000639739 ENST00000639739.1 1251 6664 TCGA-G2-A2EL-01 1898124 1786808 urinary_tract bladder NS NS carcinoma NS NS NS y COSV99140733 COSM1310466 175442620 c.1229C>G p.S410* Substitution - Nonsense 38 5:122070071-122070071 - - PATHOGENIC .98569 Confirmed somatic variant 413 fresh/frozen - NOS primary 77 ENSP00000492324.1:p.Ser410Ter ENST00000639739.1:c.1229C>G 5:g.122070071G>C HIPK3_ENST00000525975 ENST00000525975.5 3585 4915 B114-Tumor 2186095 2054392 urinary_tract bladder NS NS carcinoma NS NS NS y COSV57563405 COSM1746215 149195129 c.3367A>T p.R1123* Substitution - Nonsense 38 11:33353350-33353350 + - PATHOGENIC .95943 Confirmed somatic variant 581 NS NS ENSP00000431710.1:p.Arg1123Ter ENST00000525975.5:c.3367A>T 11:g.33353350A>T PCSK5 ENST00000545128.5 5583 8747 Thyroid-CN-WZ037T 2635098 2495494 thyroid NS NS NS carcinoma NS NS NS y COSV70449236 COSM6398393 157709171 c.3051C>A p.C1017* Substitution - Nonsense 38 9:76239143-76239143 + - PATHOGENIC .83941 Confirmed somatic variant 676 NS primary 40 ENSP00000446280.1:p.Cys1017Ter ENST00000545128.5:c.3051C>A 9:g.76239143C>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-073-tumor 2819009 2675308 meninges NS NS NS meningioma atypical NS NS n COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-222-tumor 2819098 2675397 meninges NS NS NS meningioma atypical NS NS n COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A RGS6_ENST00000555571 ENST00000555571.5 1419 10002 TCGA-AA-3977-01 1651086 1565873 large_intestine colon sigmoid NS carcinoma adenocarcinoma NS NS y COSV59581924 COSM957529 156318934 c.857T>G p.L286* Substitution - Nonsense 38 14:72495154-72495154 + - PATHOGENIC .99129 Confirmed somatic variant 376 NS NS 65 ENSP00000450936.1:p.Leu286Ter ENST00000555571.5:c.857T>G 14:g.72495154T>G SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 2492701 2492701 2355316 skin NS NS NS malignant_melanoma NS NS NS y COSV53467645 COSM1720324 177477417 c.1345C>T p.R449* Substitution - Nonsense 38 21:14510414-14510414 - - PATHOGENIC .96323 Confirmed somatic variant 26286987 surgery fresh/frozen metastasis ENSP00000493867.1:p.Arg449Ter ENST00000647101.1:c.1345C>T 21:g.14510414G>A SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 TCGA-EE-A29D-06 2121635 1995871 skin NS NS NS malignant_melanoma NS NS NS y COSV53477905 COSM3549814 177481694 c.1497G>A p.W499* Substitution - Nonsense 38 21:14500688-14500688 - - PATHOGENIC .98537 Confirmed somatic variant 540 NS NS 87 ENSP00000493867.1:p.Trp499Ter ENST00000647101.1:c.1497G>A 21:g.14500688C>T C12orf74_ENST00000544406 ENST00000544406.2 522 27887 CHC2691T 2634365 2494761 liver NS NS NS other neoplasm NS NS y COSV67337866 COSM6204211 155889807 c.49G>T p.G17* Substitution - Nonsense 38 12:92706680-92706680 + - NEUTRAL .06401 Confirmed somatic variant 381 NS primary 69 ENSP00000446043.2:p.Gly17Ter ENST00000544406.2:c.49G>T 12:g.92706680G>T C12orf74_ENST00000544406 ENST00000544406.2 522 27887 LP6005500-DNA_A01 2262738 2129722 oesophagus NS NS NS carcinoma adenocarcinoma NS NS y COSV67337706 COSM3753530 155889230 c.490C>T p.R164* Substitution - Nonsense 38 12:92707121-92707121 + - NEUTRAL .02393 Confirmed somatic variant 535 NS primary ENSP00000446043.2:p.Arg164Ter ENST00000544406.2:c.490C>T 12:g.92707121C>T C12orf74_ENST00000544406 ENST00000544406.2 522 27887 00-010K 2575097 2436434 prostate NS NS NS carcinoma adenocarcinoma NS NS y COSV67337796 COSM5563336 155889627 c.505C>T p.Q169* Substitution - Nonsense 38 12:92707136-92707136 + - PATHOGENIC .90054 Confirmed somatic variant 26928463 autopsy - NOS metastasis 84 ENSP00000446043.2:p.Gln169Ter ENST00000544406.2:c.505C>T 12:g.92707136C>T C12orf74_ENST00000544406 ENST00000544406.2 522 27887 TCGA-AZ-4615-01 1651165 1565952 large_intestine colon NS NS carcinoma adenocarcinoma NS NS y COSV67337721 COSM3688487 155890362 c.254C>A p.S85* Substitution - Nonsense 38 12:92706885-92706885 + - NEUTRAL .04559 Confirmed somatic variant 376 NS NS 84 ENSP00000446043.2:p.Ser85Ter ENST00000544406.2:c.254C>A 12:g.92706885C>A LOX_ENST00000639739 ENST00000639739.1 1251 6664 MSU1-a 2809970 2666632 large_intestine colon ascending NS adenoma tubulovillous high_grade_dysplasia NS y COSV50237881 COSM1486233 175442130 c.841C>T p.R281* Substitution - Nonsense 38 5:122075441-122075441 - - PATHOGENIC .82324 Confirmed somatic variant 26336987 surgery fresh/frozen primary 68 ENSP00000492324.1:p.Arg281Ter ENST00000639739.1:c.841C>T 5:g.122075441G>A PCSK5 ENST00000545128.5 5583 8747 TCGA-D3-A5GS-06 2121552 1995788 skin NS NS NS malignant_melanoma NS NS NS y COSV70449546 COSM3927016 157704271 c.2772G>A p.W924* Substitution - Nonsense 38 9:76233502-76233502 + - PATHOGENIC .75544 Confirmed somatic variant 540 NS NS 58 ENSP00000446280.1:p.Trp924Ter ENST00000545128.5:c.2772G>A 9:g.76233502G>A PCSK5 ENST00000545128.5 5583 8747 TCGA-EE-A2MS-06 2121689 1995925 skin NS NS NS malignant_melanoma NS NS NS y COSV70451906 COSM3658422 157706102 c.4876C>T p.Q1626* Substitution - Nonsense 38 9:76338438-76338438 + - NEUTRAL .04511 Confirmed somatic variant 540 NS NS 72 ENSP00000446280.1:p.Gln1626Ter ENST00000545128.5:c.4876C>T 9:g.76338438C>T CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-005-tumor 2818980 2675279 meninges NS NS NS meningioma atypical NS NS n COSV50369891 COSM4130259 97375980 c.761T>G p.L254* Substitution - Nonsense 38 17:47156994-47156994 - - PATHOGENIC .98732 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Leu254Ter ENST00000066544.7:c.761T>G 17:g.47156994A>C CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-269-tumor 2819118 2675417 meninges NS NS NS meningioma atypical NS NS n COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-269-tumor 2819118 2675417 meninges NS NS NS meningioma atypical NS NS n COSV50369891 COSM4130259 97375980 c.761T>G p.L254* Substitution - Nonsense 38 17:47156994-47156994 - - PATHOGENIC .98732 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Leu254Ter ENST00000066544.7:c.761T>G 17:g.47156994A>C CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-218-tumor 2819096 2675395 meninges NS NS NS meningioma atypical NS NS n COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A SPHK2_ENST00000599748 ENST00000599748.5 1857 18859 TCGA-GL-A9DC-01 2339293 2204276 kidney NS NS NS carcinoma papillary_renal_cell_carcinoma NS NS y COSV99709596 COSM8237226 165930988 c.1601G>A p.W534* Substitution - Nonsense 38 19:48629517-48629517 + - .51028 Confirmed somatic variant 543 NS primary 66 ENSP00000471205.1:p.Trp534Ter ENST00000599748.5:c.1601G>A 19:g.48629517G>A SPHK2_ENST00000599748 ENST00000599748.5 1857 18859 TCGA-ER-A19P-06 2121726 1995962 skin NS NS NS malignant_melanoma NS NS NS y COSV99709604 COSM7974577 165933555 c.52G>T p.E18* Substitution - Nonsense 38 19:48626011-48626011 + - PATHOGENIC .95791 Confirmed somatic variant 540 NS NS 47 ENSP00000471205.1:p.Glu18Ter ENST00000599748.5:c.52G>T 19:g.48626011G>T C12orf74_ENST00000544406 ENST00000544406.2 522 27887 TCGA-D5-6931-01 1651270 1566057 large_intestine colon transverse NS carcinoma adenocarcinoma NS NS y COSV67337706 COSM3753530 155889230 c.490C>T p.R164* Substitution - Nonsense 38 12:92707121-92707121 + - NEUTRAL .02393 Confirmed somatic variant 376 NS NS 77 ENSP00000446043.2:p.Arg164Ter ENST00000544406.2:c.490C>T 12:g.92707121C>T LOX_ENST00000639739 ENST00000639739.1 1251 6664 SJALL018385-D 2824009 2679837 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm acute_lymphoblastic_B_cell_leukaemia NS NS y COSV104570601 COSM9280311 175443504 c.877C>T p.Q293* Substitution - Nonsense 38 5:122075405-122075405 - - PATHOGENIC .96349 Confirmed somatic variant 31697823 blood-bone marrow NS 4.86 ENSP00000492324.1:p.Gln293Ter ENST00000639739.1:c.877C>T 5:g.122075405G>A LOX_ENST00000639739 ENST00000639739.1 1251 6664 MSU1-c 2809978 2666640 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS y COSV50237881 COSM1486233 175442130 c.841C>T p.R281* Substitution - Nonsense 38 5:122075441-122075441 - - PATHOGENIC .82324 Confirmed somatic variant 26336987 surgery fresh/frozen primary 68 ENSP00000492324.1:p.Arg281Ter ENST00000639739.1:c.841C>T 5:g.122075441G>A LOX_ENST00000639739 ENST00000639739.1 1251 6664 TCGA-D8-A1JG-01 1900053 1788737 breast NS NS NS carcinoma NS NS NS y COSV50237881 COSM1486233 175442130 c.841C>T p.R281* Substitution - Nonsense 38 5:122075441-122075441 - - PATHOGENIC .82324 Confirmed somatic variant 414 fresh/frozen - NOS primary 62 ENSP00000492324.1:p.Arg281Ter ENST00000639739.1:c.841C>T 5:g.122075441G>A PCSK5 ENST00000545128.5 5583 8747 EXTERN_MELA_20140528_004 2839369 2695135 skin upper_arm NS NS malignant_melanoma NS NS NS y COSV104687774 COSM9454434 157736177 c.787C>T p.Q263* Substitution - Nonsense 38 9:76071791-76071791 + - PATHOGENIC .94978 Confirmed somatic variant 28467829 surgery fresh/frozen metastasis ENSP00000446280.1:p.Gln263Ter ENST00000545128.5:c.787C>T 9:g.76071791C>T CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-135-tumor 2819046 2675345 meninges NS NS NS meningioma transitional NS NS n COSV50369891 COSM4130259 97375980 c.761T>G p.L254* Substitution - Nonsense 38 17:47156994-47156994 - - PATHOGENIC .98732 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Leu254Ter ENST00000066544.7:c.761T>G 17:g.47156994A>C CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-043-tumor 2818993 2675292 meninges NS NS NS meningioma atypical NS NS n COSV50369891 COSM4130259 97375980 c.761T>G p.L254* Substitution - Nonsense 38 17:47156994-47156994 - - PATHOGENIC .98732 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Leu254Ter ENST00000066544.7:c.761T>G 17:g.47156994A>C CDC27_ENST00000066544 ENST00000066544.7 2475 1728 14 2557196 2418621 upper_aerodigestive_tract mouth NS NS carcinoma squamous_cell_carcinoma NS NS y COSV50374175 COSM1383884 97383778 c.710C>A p.S237* Substitution - Nonsense 38 17:47157045-47157045 - - PATHOGENIC .98858 Reported in another cancer sample as somatic 26934577 surgery fresh/frozen NS ENSP00000066544.3:p.Ser237Ter ENST00000066544.7:c.710C>A 17:g.47157045G>T CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-072-tumor 2819008 2675307 meninges NS NS NS meningioma fibroblastic NS NS n COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 2780409 2780409 2638340 biliary_tract bile_duct NS NS carcinoma adenocarcinoma NS NS y COSV101459691 COSM7429674 138589042 c.1586C>G p.S529* Substitution - Nonsense 38 3:78668239-78668239 - - PATHOGENIC .91565 Confirmed somatic variant 27009864 surgery fresh/frozen NS 63 ENSP00000420637.1:p.Ser529Ter ENST00000495273.5:c.1586C>G 3:g.78668239G>C C12orf74_ENST00000544406 ENST00000544406.2 522 27887 SC_9008_UM 2909932 2764068 prostate NS NS NS carcinoma NS NS NS y COSV67337796 COSM5563336 155889627 c.505C>T p.Q169* Substitution - Nonsense 38 12:92707136-92707136 + - PATHOGENIC .90054 Confirmed somatic variant 27167109 autopsy-fresh/frozen metastasis ENSP00000446043.2:p.Gln169Ter ENST00000544406.2:c.505C>T 12:g.92707136C>T C12orf74_ENST00000544406 ENST00000544406.2 522 27887 SC_9008_Broad 2909933 2764068 prostate NS NS NS carcinoma NS NS NS y COSV67337796 COSM5563336 155889627 c.505C>T p.Q169* Substitution - Nonsense 38 12:92707136-92707136 + - PATHOGENIC .90054 Confirmed somatic variant 27167109 autopsy-fresh/frozen metastasis ENSP00000446043.2:p.Gln169Ter ENST00000544406.2:c.505C>T 12:g.92707136C>T C12orf74_ENST00000544406 ENST00000544406.2 522 27887 SC_9008 2467356 2330187 prostate NS NS NS carcinoma NS NS NS y COSV67337796 COSM5563336 155889627 c.505C>T p.Q169* Substitution - Nonsense het 38 12:92707136-92707136 + - PATHOGENIC .90054 Confirmed somatic variant 26000489 surgery - NOS metastasis ENSP00000446043.2:p.Gln169Ter ENST00000544406.2:c.505C>T 12:g.92707136C>T C12orf74_ENST00000544406 ENST00000544406.2 522 27887 TCGA-CV-6952-01 2193532 2061810 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV101188829 COSM8285909 155889878 c.412C>T p.Q138* Substitution - Nonsense 38 12:92707043-92707043 + - NEUTRAL .20719 Confirmed somatic variant 627 NS NS 65 ENSP00000446043.2:p.Gln138Ter ENST00000544406.2:c.412C>T 12:g.92707043C>T C12orf74_ENST00000544406 ENST00000544406.2 522 27887 00-010L 2575126 2436463 prostate NS NS NS carcinoma adenocarcinoma NS NS y COSV67337796 COSM5563336 155889627 c.505C>T p.Q169* Substitution - Nonsense 38 12:92707136-92707136 + - PATHOGENIC .90054 Confirmed somatic variant 26928463 autopsy - NOS metastasis 84 ENSP00000446043.2:p.Gln169Ter ENST00000544406.2:c.505C>T 12:g.92707136C>T CELSR1 ENST00000262738.7 9045 1850 TCGA-33-AASB-01 2385865 2248697 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99416722 COSM8733429 101661115 c.5661C>A p.C1887* Substitution - Nonsense 38 22:46397714-46397714 - - PATHOGENIC .95627 Confirmed somatic variant 418 NS primary 66 ENSP00000262738.3:p.Cys1887Ter ENST00000262738.7:c.5661C>A 22:g.46397714G>T CDC27_ENST00000066544 ENST00000066544.7 2475 1728 PD3851a 1230731 1142534 breast NS NS NS carcinoma ductal_carcinoma micropapillary NS y COSV50435001 COSM219156 97377153 c.1999C>T p.Q667* Substitution - Nonsense 38 17:47132289-47132289 - - PATHOGENIC .98753 Reported in another cancer sample as somatic 22608084 385 NS primary 61 ENSP00000066544.3:p.Gln667Ter ENST00000066544.7:c.1999C>T 17:g.47132289G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-042-tumor 2818992 2675291 meninges NS NS NS meningioma meningothelial NS NS n COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-104-tumor 2819030 2675329 meninges NS NS NS meningioma meningothelial NS NS n COSV50369891 COSM4130259 97375980 c.761T>G p.L254* Substitution - Nonsense 38 17:47156994-47156994 - - PATHOGENIC .98732 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Leu254Ter ENST00000066544.7:c.761T>G 17:g.47156994A>C CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-228-tumor 2819103 2675402 meninges NS NS NS meningioma meningothelial NS NS n COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 523LT 2242281 2109557 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Reported in another cancer sample as somatic 24599305 surgery - NOS metastasis ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A PKD2L2 ENST00000508883.5 1875 9012 2834140 2834140 2689924 skin mucosal female_genital_tract_(site_indeterminate) NS malignant_melanoma NS NS NS y COSV104617251 COSM9344473 143316363 c.1639G>T p.E547* Substitution - Nonsense 38 5:137925897-137925897 + - NEUTRAL .0574 Variant of unknown origin 28296713 surgery - NOS primary 66 ENSP00000424725.1:p.Glu547Ter ENST00000508883.5:c.1639G>T 5:g.137925897G>T ARSG_ENST00000621439 ENST00000621439.4 1578 24102 TCGA-AX-A0J0-01 1783376 1687375 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV71593423 COSM983407 168962182 c.1047G>A p.W349* Substitution - Nonsense het 38 17:68385128-68385128 + - PATHOGENIC .95502 Variant of unknown origin 419 fresh/frozen - NOS primary 47 ENSP00000480910.1:p.Trp349Ter ENST00000621439.4:c.1047G>A 17:g.68385128G>A CELSR1 ENST00000262738.7 9045 1850 EXTERN_MELA_20140526_057 2839339 2695105 skin upper_arm NS NS malignant_melanoma NS NS NS y COSV104584234 COSM9396897 101670624 c.4654G>T p.E1552* Substitution - Nonsense 38 22:46411717-46411717 - - PATHOGENIC .92606 Confirmed somatic variant 28467829 surgery fresh/frozen metastasis ENSP00000262738.3:p.Glu1552Ter ENST00000262738.7:c.4654G>T 22:g.46411717C>A CELSR1 ENST00000262738.7 9045 1850 TCGA-EE-A3AH-06 2121699 1995935 skin NS NS NS malignant_melanoma NS NS NS y COSV99419832 COSM8104720 101653997 c.7684G>T p.E2562* Substitution - Nonsense 38 22:46372958-46372958 - - PATHOGENIC .96461 Confirmed somatic variant 540 NS NS 30 ENSP00000262738.3:p.Glu2562Ter ENST00000262738.7:c.7684G>T 22:g.46372958C>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-266-tumor 2819117 2675416 meninges NS NS NS meningioma atypical NS NS n COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-266-tumor 2819117 2675416 meninges NS NS NS meningioma atypical NS NS n COSV50369891 COSM4130259 97375980 c.761T>G p.L254* Substitution - Nonsense 38 17:47156994-47156994 - - PATHOGENIC .98732 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Leu254Ter ENST00000066544.7:c.761T>G 17:g.47156994A>C CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-124-tumor 2819043 2675342 meninges NS NS NS meningioma meningothelial NS NS n COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-147-tumor 2819052 2675351 meninges NS NS NS meningioma atypical NS NS n COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-227-tumor 2819102 2675401 meninges NS NS NS meningioma atypical NS NS n COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A RGS6_ENST00000555571 ENST00000555571.5 1419 10002 TCGA-A6-3809-01 1901050 1789730 large_intestine colon transverse NS carcinoma adenocarcinoma NS NS y COSV59573357 COSM1370897 156303911 c.652C>T p.R218* Substitution - Nonsense 38 14:72474658-72474658 + - PATHOGENIC .79504 Confirmed somatic variant 376 fresh/frozen - NOS primary 71 ENSP00000450936.1:p.Arg218Ter ENST00000555571.5:c.652C>T 14:g.72474658C>T RGS6_ENST00000555571 ENST00000555571.5 1419 10002 427 2267399 2134167 oesophagus middle_third NS NS carcinoma squamous_cell_carcinoma NS NS y COSV59583012 COSM4433021 156330408 c.1081G>T p.E361* Substitution - Nonsense 38 14:72510269-72510269 + - PATHOGENIC .99279 Confirmed somatic variant 25151357 surgery fresh/frozen primary 64 ENSP00000450936.1:p.Glu361Ter ENST00000555571.5:c.1081G>T 14:g.72510269G>T STPG4 ENST00000445927.6 747 26850 DA12002 2634931 2495327 prostate NS NS NS carcinoma adenocarcinoma NS NS y COSV54280373 COSM6359235 128402582 c.347C>A p.S116* Substitution - Nonsense 38 2:47151310-47151310 - - PATHOGENIC .90326 Confirmed somatic variant 675 NS primary 66 ENSP00000408527.2:p.Ser116Ter ENST00000445927.6:c.347C>A 2:g.47151310G>T CELSR1 ENST00000262738.7 9045 1850 010 2640414 2500716 lung NS NS NS carcinoma bronchioloalveolar_adenocarcinoma NS NS y COSV53088147 COSM6468230 101671323 c.7822C>T p.Q2608* Substitution - Nonsense 38 22:46369742-46369742 - - NEUTRAL .37124 Confirmed somatic variant 27545006 fixed - NOS NS 60 ENSP00000262738.3:p.Gln2608Ter ENST00000262738.7:c.7822C>T 22:g.46369742G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-145-tumor 2819050 2675349 meninges NS NS NS meningioma atypical NS NS n COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 UPCI:SCC090 2296310 2161913 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV50367807 COSM4593710 97375282 c.1873C>T p.R625* Substitution - Nonsense 38 17:47137192-47137192 - - PATHOGENIC .94776 Reported in another cancer sample as somatic 25275298 cell-line NS 46 ENSP00000066544.3:p.Arg625Ter ENST00000066544.7:c.1873C>T 17:g.47137192G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 UM-SCC-17B 2296307 2161910 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV50367807 COSM4593710 97375282 c.1873C>T p.R625* Substitution - Nonsense 38 17:47137192-47137192 - - PATHOGENIC .94776 Reported in another cancer sample as somatic 25275298 cell-line NS 47 ENSP00000066544.3:p.Arg625Ter ENST00000066544.7:c.1873C>T 17:g.47137192G>A RGS6_ENST00000555571 ENST00000555571.5 1419 10002 C547 2293719 2159783 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV59569958 COSM4052177 156303298 c.661C>T p.R221* Substitution - Nonsense het 38 14:72474667-72474667 + - PATHOGENIC .87417 Confirmed somatic variant 24211491 NS NS ENSP00000450936.1:p.Arg221Ter ENST00000555571.5:c.661C>T 14:g.72474667C>T GAB4_ENST00000643316 ENST00000643316.1 2055 18325 EXTERN_MELA_20140505_040 2839417 2695183 skin upper_arm NS NS malignant_melanoma NS NS NS y COSV104705658 COSM9489773 174750980 c.1972A>T p.K658* Substitution - Nonsense 38 22:16962816-16962816 - - PATHOGENIC .93929 Confirmed somatic variant 28467829 surgery fresh/frozen primary ENSP00000495950.1:p.Lys658Ter ENST00000643316.1:c.1972A>T 22:g.16962816T>A SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 TCGA-KQ-A41N-01 2457399 2320236 urinary_tract bladder NS NS carcinoma NS NS NS y COSV53467586 COSM6559040 177479807 c.1928C>A p.S643* Substitution - Nonsense 38 21:14485994-14485994 - - PATHOGENIC .93482 Confirmed somatic variant 413 NS primary 73 ENSP00000493867.1:p.Ser643Ter ENST00000647101.1:c.1928C>A 21:g.14485994G>T ROBO1_ENST00000495273 ENST00000495273.5 4821 10249 TCGA-EM-A22M-01 2122036 1996272 thyroid NS NS NS carcinoma NS NS NS y COSV101459125 COSM8233897 138581271 c.2008G>T p.G670* Substitution - Nonsense 38 3:78661234-78661234 - - PATHOGENIC .9917 Confirmed somatic variant 542 NS NS 52 ENSP00000420637.1:p.Gly670Ter ENST00000495273.5:c.2008G>T 3:g.78661234C>A PKD2L2 ENST00000508883.5 1875 9012 TCGA-29-1695-01 1731234 1637200 ovary NS NS NS carcinoma serous_carcinoma NS NS y COSV51796765 COSM1328273 143315038 c.57C>A p.Y19* Substitution - Nonsense het 38 5:137890506-137890506 + - PATHOGENIC .94902 Reported in another cancer sample as somatic 331 NS primary 62 ENSP00000424725.1:p.Tyr19Ter ENST00000508883.5:c.57C>A 5:g.137890506C>A PKD2L2 ENST00000508883.5 1875 9012 HN_62469 1560540 1481990 upper_aerodigestive_tract mouth NS NS carcinoma squamous_cell_carcinoma NS NS y COSV51800725 COSM126872 143319210 c.116T>A p.L39* Substitution - Nonsense 38 5:137890565-137890565 + - PATHOGENIC .97942 Variant of unknown origin 21798893 surgery fresh/frozen primary ENSP00000424725.1:p.Leu39Ter ENST00000508883.5:c.116T>A 5:g.137890565T>A PKD2L2 ENST00000508883.5 1875 9012 TCGA-D1-A16Y-01 1783519 1687518 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV51797335 COSM1061194 143314702 c.916G>T p.E306* Substitution - Nonsense het 38 5:137906375-137906375 + - PATHOGENIC .87427 Reported in another cancer sample as somatic 419 fresh/frozen - NOS primary 56 ENSP00000424725.1:p.Glu306Ter ENST00000508883.5:c.916G>T 5:g.137906375G>T ARSG_ENST00000621439 ENST00000621439.4 1578 24102 TCGA-K4-A6MB-01 2193244 2061522 urinary_tract bladder NS NS carcinoma NS NS NS y COSV101477925 COSM7661381 168960579 c.922C>T p.Q308* Substitution - Nonsense 38 17:68370464-68370464 + - PATHOGENIC .81878 Confirmed somatic variant 413 NS NS 64 ENSP00000480910.1:p.Gln308Ter ENST00000621439.4:c.922C>T 17:g.68370464C>T CELSR1 ENST00000262738.7 9045 1850 HCC6 2120862 1995098 liver NS NS NS carcinoma NS NS NS y COSV53085351 COSM1616570 101663727 c.3475G>T p.E1159* Substitution - Nonsense 38 22:46533696-46533696 - - PATHOGENIC .96062 Confirmed somatic variant 323 NS NS ENSP00000262738.3:p.Glu1159Ter ENST00000262738.7:c.3475G>T 22:g.46533696C>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 UM-SCC-11B 2296306 2161909 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV50367807 COSM4593710 97375282 c.1873C>T p.R625* Substitution - Nonsense 38 17:47137192-47137192 - - PATHOGENIC .94776 Reported in another cancer sample as somatic 25275298 cell-line NS 65 ENSP00000066544.3:p.Arg625Ter ENST00000066544.7:c.1873C>T 17:g.47137192G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-024-tumor 2818985 2675284 meninges NS NS NS meningioma atypical NS NS n COSV50386741 COSM4130289 97379261 c.431T>G p.L144* Substitution - Nonsense 38 17:47158250-47158250 - - PATHOGENIC .97317 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Leu144Ter ENST00000066544.7:c.431T>G 17:g.47158250A>C RGS6_ENST00000555571 ENST00000555571.5 1419 10002 CG53 2816755 2673106 large_intestine rectum NS NS carcinoma adenocarcinoma NS NS y COSV59569958 COSM4052177 156303298 c.661C>T p.R221* Substitution - Nonsense 38 14:72474667-72474667 + - PATHOGENIC .87417 Confirmed somatic variant 29937994 surgery fresh/frozen NS 80 ENSP00000450936.1:p.Arg221Ter ENST00000555571.5:c.661C>T 14:g.72474667C>T SPHK2_ENST00000599748 ENST00000599748.5 1857 18859 TCGA-DX-A3M2-01 2269669 2136437 soft_tissue NS NS NS sarcoma NS NS NS y COSV99709238 COSM8456166 165933168 c.73C>T p.R25* Substitution - Nonsense 38 19:48626032-48626032 + - NEUTRAL .37128 Confirmed somatic variant 635 NS NS ENSP00000471205.1:p.Arg25Ter ENST00000599748.5:c.73C>T 19:g.48626032C>T SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 Au2 2466841 2329672 skin scalp NS NS malignant_melanoma desmoplastic NS NS y COSV53467645 COSM1720324 177477417 c.1345C>T p.R449* Substitution - Nonsense 38 21:14510414-14510414 - - PATHOGENIC .96323 Confirmed somatic variant 26343386 surgery fresh/frozen NS 85 ENSP00000493867.1:p.Arg449Ter ENST00000647101.1:c.1345C>T 21:g.14510414G>A HIPK3_ENST00000525975 ENST00000525975.5 3585 4915 T578 2658233 2518392 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV57561750 COSM926477 149192502 c.1489G>T p.E497* Substitution - Nonsense 38 11:33339410-33339410 + - PATHOGENIC .95784 Confirmed somatic variant 27149842 NS NS 61.08 ENSP00000431710.1:p.Glu497Ter ENST00000525975.5:c.1489G>T 11:g.33339410G>T HIPK3_ENST00000525975 ENST00000525975.5 3585 4915 GCYC_152_T 2747575 2606278 stomach NS NS NS carcinoma NS NS NS y COSV100305794 COSM8510353 149192437 c.2500C>T p.Q834* Substitution - Nonsense 38 11:33348715-33348715 + - PATHOGENIC .97681 Confirmed somatic variant 683 NS primary ENSP00000431710.1:p.Gln834Ter ENST00000525975.5:c.2500C>T 11:g.33348715C>T HIPK3_ENST00000525975 ENST00000525975.5 3585 4915 T578 2296255 2161858 large_intestine caecum NS NS carcinoma adenocarcinoma NS NS y COSV57561750 COSM926477 149192502 c.1489G>T p.E497* Substitution - Nonsense 38 11:33339410-33339410 + - PATHOGENIC .95784 Confirmed somatic variant 25344691 NS NS 61.08 ENSP00000431710.1:p.Glu497Ter ENST00000525975.5:c.1489G>T 11:g.33339410G>T CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-024-tumor 2818985 2675284 meninges NS NS NS meningioma atypical NS NS n COSV50369891 COSM4130259 97375980 c.761T>G p.L254* Substitution - Nonsense 38 17:47156994-47156994 - - PATHOGENIC .98732 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Leu254Ter ENST00000066544.7:c.761T>G 17:g.47156994A>C CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-191-tumor 2819077 2675376 meninges NS NS NS meningioma atypical NS NS n COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-063-tumor 2819002 2675301 meninges NS NS NS meningioma atypical NS NS n COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A RGS6_ENST00000555571 ENST00000555571.5 1419 10002 TCGA-BR-8680-01 2197966 2066244 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV59569958 COSM4052177 156303298 c.661C>T p.R221* Substitution - Nonsense 38 14:72474667-72474667 + - PATHOGENIC .87417 Confirmed somatic variant 541 NS NS 45 ENSP00000450936.1:p.Arg221Ter ENST00000555571.5:c.661C>T 14:g.72474667C>T SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 CHG-98T 2634280 2494676 liver NS NS NS other neoplasm NS NS y COSV68734015 COSN26604084 177481818 c.20C>A p.S7* Substitution - Nonsense 38 21:14658752-14658752 - - PATHOGENIC .98284 Confirmed somatic variant 660 NS primary 51 ENSP00000493867.1:p.Ser7Ter ENST00000647101.1:c.20C>A 21:g.14658752G>T PKD2L2 ENST00000508883.5 1875 9012 TCGA-66-2778-01 1782783 1686782 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV50366957 COSM735590 143314020 c.1717G>T p.E573* Substitution - Nonsense 38 5:137935842-137935842 + - PATHOGENIC .70707 Confirmed somatic variant 418 fresh/frozen - NOS primary 68 ENSP00000424725.1:p.Glu573Ter ENST00000508883.5:c.1717G>T 5:g.137935842G>T PKD2L2 ENST00000508883.5 1875 9012 5-VS011-T1 2869833 2724830 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV105009877 COSM9686664 143316015 c.669G>A p.W223* Substitution - Nonsense 38 5:137899660-137899660 + - PATHOGENIC .97798 Confirmed somatic variant 26950094 surgery fresh/frozen NS 88 ENSP00000424725.1:p.Trp223Ter ENST00000508883.5:c.669G>A 5:g.137899660G>A PKD2L2 ENST00000508883.5 1875 9012 TCGA-AG-3583-01 1651531 1566318 large_intestine rectum NS NS carcinoma adenocarcinoma NS NS y COSV99295947 COSM7531298 143315833 c.25C>T p.R9* Substitution - Nonsense 38 5:137889516-137889516 + - NEUTRAL .14404 Confirmed somatic variant 22810696 375 NS primary 66 ENSP00000424725.1:p.Arg9Ter ENST00000508883.5:c.25C>T 5:g.137889516C>T PKD2L2 ENST00000508883.5 1875 9012 TCGA-AG-3583-01 1651531 1566318 large_intestine rectum NS NS carcinoma adenocarcinoma NS NS y COSV99295947 COSM7531298 143315833 c.25C>T p.R9* Substitution - Nonsense 38 5:137889516-137889516 + - NEUTRAL .14404 Confirmed somatic variant 375 NS primary 66 ENSP00000424725.1:p.Arg9Ter ENST00000508883.5:c.25C>T 5:g.137889516C>T PKD2L2 ENST00000508883.5 1875 9012 T2269 2296107 2161710 large_intestine colon descending NS carcinoma adenocarcinoma NS NS y COSV51798912 COSM257739 143315691 c.1342C>T p.R448* Substitution - Nonsense 38 5:137921649-137921649 + - PATHOGENIC .9403 Confirmed somatic variant 25344691 NS NS 73 ENSP00000424725.1:p.Arg448Ter ENST00000508883.5:c.1342C>T 5:g.137921649C>T HIPK3_ENST00000525975 ENST00000525975.5 3585 4915 TCGA-BA-4076-01 2193601 2061879 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV100305648 COSM8377631 149196006 c.1306G>T p.E436* Substitution - Nonsense 38 11:33337159-33337159 + - PATHOGENIC .99229 Confirmed somatic variant 627 NS NS 39 ENSP00000431710.1:p.Glu436Ter ENST00000525975.5:c.1306G>T 11:g.33337159G>T HIPK3_ENST00000525975 ENST00000525975.5 3585 4915 TCGA-EY-A1GI-01 2198283 2066561 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV100305900 COSM8825674 149191611 c.2869G>T p.E957* Substitution - Nonsense 38 11:33351732-33351732 + - PATHOGENIC .99522 Confirmed somatic variant 419 NS NS 52 ENSP00000431710.1:p.Glu957Ter ENST00000525975.5:c.2869G>T 11:g.33351732G>T PCSK5 ENST00000545128.5 5583 8747 CSCC-27-T 2292469 2158533 skin head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV70449546 COSM3927016 157704271 c.2772G>A p.W924* Substitution - Nonsense het 38 9:76233502-76233502 + - PATHOGENIC .75544 Confirmed somatic variant 25303977 surgery fresh/frozen primary 72 ENSP00000446280.1:p.Trp924Ter ENST00000545128.5:c.2772G>A 9:g.76233502G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-087-tumor 2819019 2675318 meninges NS NS NS meningioma angiomatous NS NS n COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 WSU-HN30 2296299 2161902 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV50367807 COSM4593710 97375282 c.1873C>T p.R625* Substitution - Nonsense 38 17:47137192-47137192 - - PATHOGENIC .94776 Reported in another cancer sample as somatic 25275298 cell-line NS ENSP00000066544.3:p.Arg625Ter ENST00000066544.7:c.1873C>T 17:g.47137192G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 WSU-HN8 2296296 2161899 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV50367807 COSM4593710 97375282 c.1873C>T p.R625* Substitution - Nonsense 38 17:47137192-47137192 - - PATHOGENIC .94776 Reported in another cancer sample as somatic 25275298 cell-line NS ENSP00000066544.3:p.Arg625Ter ENST00000066544.7:c.1873C>T 17:g.47137192G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-097-tumor 2819025 2675324 meninges NS NS NS meningioma transitional NS NS n COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 3N35-VS-3T35 2363602 2226529 oesophagus NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV53468258 COSM4981086 177479346 c.1804G>T p.E602* Substitution - Nonsense 38 21:14498445-14498445 - - PATHOGENIC .99711 Confirmed somatic variant 25839328 NS NS 58 ENSP00000493867.1:p.Glu602Ter ENST00000647101.1:c.1804G>T 21:g.14498445C>A SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 3N35-VS-3T35 2582919 2444174 oesophagus NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV53468258 COSM4981086 177479346 c.1804G>T p.E602* Substitution - Nonsense 38 21:14498445-14498445 - - PATHOGENIC .99711 Confirmed somatic variant 26759717 surgery - NOS NS 58 ENSP00000493867.1:p.Glu602Ter ENST00000647101.1:c.1804G>T 21:g.14498445C>A PKD2L2 ENST00000508883.5 1875 9012 TCGA-D9-A4Z6-01 2121566 1995802 skin NS NS NS malignant_melanoma NS NS NS y COSV51801082 COSM3608838 143314153 c.1101T>A p.Y367* Substitution - Nonsense 38 5:137907867-137907867 + - PATHOGENIC .80527 Confirmed somatic variant 540 NS NS 54 ENSP00000424725.1:p.Tyr367Ter ENST00000508883.5:c.1101T>A 5:g.137907867T>A PKD2L2 ENST00000508883.5 1875 9012 2861874 2861874 2717081 lung NS NS NS carcinoma sarcomatoid_carcinoma NS NS y COSV51796765 COSM1328273 143315038 c.57C>A p.Y19* Substitution - Nonsense 38 5:137890506-137890506 + - PATHOGENIC .94902 Confirmed somatic variant 26215952 surgery fresh/frozen NS 86 ENSP00000424725.1:p.Tyr19Ter ENST00000508883.5:c.57C>A 5:g.137890506C>A CELSR1 ENST00000262738.7 9045 1850 TCGA-DA-A1I0-06 2121570 1995806 skin NS NS NS malignant_melanoma NS NS NS y COSV53090611 COSM1714491 101659979 c.5278G>T p.E1760* Substitution - Nonsense 38 22:46399851-46399851 - - PATHOGENIC .90205 Confirmed somatic variant 540 NS NS 63 ENSP00000262738.3:p.Glu1760Ter ENST00000262738.7:c.5278G>T 22:g.46399851C>A HIPK3_ENST00000525975 ENST00000525975.5 3585 4915 B114 2097263 1975327 urinary_tract bladder NS NS carcinoma transitional_cell_carcinoma NS NS y COSV57563405 COSM1746215 149195129 c.3367A>T p.R1123* Substitution - Nonsense 38 11:33353350-33353350 + - PATHOGENIC .95943 Confirmed somatic variant 24121792 fresh/frozen - NOS NS ENSP00000431710.1:p.Arg1123Ter ENST00000525975.5:c.3367A>T 11:g.33353350A>T CDC27_ENST00000066544 ENST00000066544.7 2475 1728 NOKSI 2296312 2161915 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV50367807 COSM4593710 97375282 c.1873C>T p.R625* Substitution - Nonsense 38 17:47137192-47137192 - - PATHOGENIC .94776 Reported in another cancer sample as somatic 25275298 cell-line NS ENSP00000066544.3:p.Arg625Ter ENST00000066544.7:c.1873C>T 17:g.47137192G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-144-tumor 2819049 2675348 meninges NS NS NS meningioma atypical NS NS n COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A GAB4_ENST00000643316 ENST00000643316.1 2055 18325 2785973 2785973 2643434 stomach NS NS NS adenoma NS NS NS y COSV68754109 COSM5963796 174753287 c.487G>T p.G163* Substitution - Nonsense 38 22:16988159-16988159 - - NEUTRAL .26555 Confirmed somatic variant 27175599 surgery fresh/frozen NS 75 ENSP00000495950.1:p.Gly163Ter ENST00000643316.1:c.487G>T 22:g.16988159C>A GAB4_ENST00000643316 ENST00000643316.1 2055 18325 2785974 2785974 2643434 stomach NS NS NS adenoma NS NS NS y COSV68754109 COSM5963796 174753287 c.487G>T p.G163* Substitution - Nonsense 38 22:16988159-16988159 - - NEUTRAL .26555 Confirmed somatic variant 27175599 surgery fresh/frozen NS 75 ENSP00000495950.1:p.Gly163Ter ENST00000643316.1:c.487G>T 22:g.16988159C>A SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 2492700 2492700 2355315 skin face NS NS malignant_melanoma NS NS NS y COSV53467645 COSM1720324 177477417 c.1345C>T p.R449* Substitution - Nonsense 38 21:14510414-14510414 - - PATHOGENIC .96323 Confirmed somatic variant 26286987 surgery fresh/frozen primary ENSP00000493867.1:p.Arg449Ter ENST00000647101.1:c.1345C>T 21:g.14510414G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-004-tumor 2818979 2675278 meninges NS NS NS meningioma meningothelial NS NS n COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-171-tumor 2819064 2675363 meninges NS NS NS meningioma transitional NS NS n COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 CAL27 2296292 2161895 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV50367807 COSM4593710 97375282 c.1873C>T p.R625* Substitution - Nonsense 38 17:47137192-47137192 - - PATHOGENIC .94776 Reported in another cancer sample as somatic 25275298 cell-line NS 56 ENSP00000066544.3:p.Arg625Ter ENST00000066544.7:c.1873C>T 17:g.47137192G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-018-tumor 2818983 2675282 meninges NS NS NS meningioma atypical NS NS n COSV50369891 COSM4130259 97375980 c.761T>G p.L254* Substitution - Nonsense 38 17:47156994-47156994 - - PATHOGENIC .98732 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Leu254Ter ENST00000066544.7:c.761T>G 17:g.47156994A>C CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-004-tumor 2818979 2675278 meninges NS NS NS meningioma meningothelial NS NS n COSV50369891 COSM4130259 97375980 c.761T>G p.L254* Substitution - Nonsense 38 17:47156994-47156994 - - PATHOGENIC .98732 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Leu254Ter ENST00000066544.7:c.761T>G 17:g.47156994A>C GAB4_ENST00000643316 ENST00000643316.1 2055 18325 TCGA-VQ-A8P2-01 2339964 2204947 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV101271972 COSM8220049 174751742 c.180G>A p.W60* Substitution - Nonsense 38 22:16992171-16992171 - - PATHOGENIC .91249 Confirmed somatic variant 541 NS primary 68 ENSP00000495950.1:p.Trp60Ter ENST00000643316.1:c.180G>A 22:g.16992171C>T PCSK5 ENST00000545128.5 5583 8747 TCGA-BF-A1Q0-01 2121497 1995733 skin NS NS NS malignant_melanoma NS NS NS y COSV100949807 COSM8074353 157733885 c.257C>A p.S86* Substitution - Nonsense 38 9:75932443-75932443 + - PATHOGENIC .97171 Confirmed somatic variant 540 NS NS 80 ENSP00000446280.1:p.Ser86Ter ENST00000545128.5:c.257C>A 9:g.75932443C>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-111-tumor 2819034 2675333 meninges NS NS NS meningioma transitional NS NS n COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A GAB4_ENST00000643316 ENST00000643316.1 2055 18325 2014_Lung_sq_23_T 2744894 2603597 lung NS NS NS carcinoma NS NS NS y COSV68755556 COSN28673044 174753275 c.1255C>T p.R419* Substitution - Nonsense 38 22:16969625-16969625 - - PATHOGENIC .80178 Confirmed somatic variant 583 NS primary 74 ENSP00000495950.1:p.Arg419Ter ENST00000643316.1:c.1255C>T 22:g.16969625G>A DEF8_ENST00000563795 ENST00000563795.1 1305 25969 TCGA-AP-A059-01 1783335 1687334 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV51921089 COSM975025 158449036 c.789G>A p.W263* Substitution - Nonsense het 38 16:89961846-89961846 + - PATHOGENIC .98718 Variant of unknown origin 419 fresh/frozen - NOS primary 69 ENSP00000457627.1:p.Trp263Ter ENST00000563795.1:c.789G>A 16:g.89961846G>A KLHL33 ENST00000344581.4 1602 31952 TCGA-UU-A93S-01 2386131 2248963 breast NS NS NS carcinoma NS NS NS y COSV100754857 COSM7663158 104617022 c.428G>A p.W143* Substitution - Nonsense 38 14:20430248-20430248 - - PATHOGENIC .90976 Confirmed somatic variant 414 NS primary 63 ENSP00000341549.4:p.Trp143Ter ENST00000344581.4:c.428G>A 14:g.20430248C>T PKD2L2 ENST00000508883.5 1875 9012 TCGA-AA-A010-01 1651109 1565896 large_intestine colon transverse NS carcinoma adenocarcinoma NS NS y COSV51794570 COSM284045 143317866 c.1190C>A p.S397* Substitution - Nonsense 38 5:137908808-137908808 + - PATHOGENIC .9888 Confirmed somatic variant 22810696 376 NS NS 46 ENSP00000424725.1:p.Ser397Ter ENST00000508883.5:c.1190C>A 5:g.137908808C>A CELSR1 ENST00000262738.7 9045 1850 TCGA-EB-A41A-01 2121595 1995831 skin NS NS NS malignant_melanoma NS NS NS y COSV53099380 COSM3555501 101654099 c.3742C>T p.Q1248* Substitution - Nonsense 38 22:46464148-46464148 - - PATHOGENIC .99128 Confirmed somatic variant 540 NS NS 90 ENSP00000262738.3:p.Gln1248Ter ENST00000262738.7:c.3742C>T 22:g.46464148G>A CELSR1 ENST00000262738.7 9045 1850 TCGA-EE-A2MT-06 2121690 1995926 skin NS NS NS malignant_melanoma NS NS NS y COSV53099803 COSM3555506 101671330 c.2485C>T p.Q829* Substitution - Nonsense 38 22:46534686-46534686 - - PATHOGENIC .7706 Confirmed somatic variant 540 NS NS 45 ENSP00000262738.3:p.Gln829Ter ENST00000262738.7:c.2485C>T 22:g.46534686G>A HIPK3_ENST00000525975 ENST00000525975.5 3585 4915 S00472_1 2480813 2343558 lung NS NS NS carcinoma small_cell_carcinoma NS NS y COSV57561121 COSM311778 149192591 c.835G>T p.E279* Substitution - Nonsense 38 11:33287249-33287249 + - PATHOGENIC .9927 Confirmed somatic variant 26168399 surgery fresh/frozen primary 56 ENSP00000431710.1:p.Glu279Ter ENST00000525975.5:c.835G>T 11:g.33287249G>T HIPK3_ENST00000525975 ENST00000525975.5 3585 4915 TCGA-AX-A2HD-01 2198411 2066689 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV100305779 COSM9027046 149191446 c.336G>A p.W112* Substitution - Nonsense 38 11:33286750-33286750 + - PATHOGENIC .97774 Confirmed somatic variant 419 NS NS 69 ENSP00000431710.1:p.Trp112Ter ENST00000525975.5:c.336G>A 11:g.33286750G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-014-tumor 2818981 2675280 meninges NS NS NS meningioma transitional NS NS n COSV50369891 COSM4130259 97375980 c.761T>G p.L254* Substitution - Nonsense 38 17:47156994-47156994 - - PATHOGENIC .98732 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Leu254Ter ENST00000066544.7:c.761T>G 17:g.47156994A>C CDC27_ENST00000066544 ENST00000066544.7 2475 1728 ORL-48 2296300 2161903 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV50367807 COSM4593710 97375282 c.1873C>T p.R625* Substitution - Nonsense 38 17:47137192-47137192 - - PATHOGENIC .94776 Reported in another cancer sample as somatic 25275298 cell-line NS 79 ENSP00000066544.3:p.Arg625Ter ENST00000066544.7:c.1873C>T 17:g.47137192G>A CRLF2_ENST00000381566 ENST00000381566.6 1116 14281 BL-15-D37349 2905379 2759635 NS NS NS NS malignant_melanoma NS NS NS n COSV105932402 COSM9990490 114336778 c.335G>A p.W112* Substitution - Nonsense 38 23:1206447-1206447 - - NEUTRAL .00228 Variant of unknown origin 32321774 surgery-fixed metastasis ENSP00000370978.2:p.Trp112Ter ENST00000381566.6:c.335G>A X:g.1206447C>T CRLF2_ENST00000381566 ENST00000381566.6 1116 14281 BL-15-W34001 2905388 2759644 lung NS NS NS carcinoma non_small_cell_carcinoma NS NS n COSV105932403 COSM9996939 114337000 c.456C>A p.Y152* Substitution - Nonsense 38 23:1202429-1202429 - - NEUTRAL .00721 Variant of unknown origin 32321774 surgery-fixed metastasis ENSP00000370978.2:p.Tyr152Ter ENST00000381566.6:c.456C>A X:g.1202429G>T DEF8_ENST00000563795 ENST00000563795.1 1305 25969 LUAD-S01345 1765099 1669419 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV51920798 COSM404286 158450456 c.802C>T p.R268* Substitution - Nonsense 38 16:89961859-89961859 + - PATHOGENIC .94108 Reported in another cancer sample as somatic 22980975 surgery - NOS primary 74 ENSP00000457627.1:p.Arg268Ter ENST00000563795.1:c.802C>T 16:g.89961859C>T KLHL33 ENST00000344581.4 1602 31952 AOCS-142-3-5 2185949 2054246 ovary NS NS NS carcinoma mixed_adenosquamous_carcinoma NS NS y COSV60726322 COSM3983149 104618712 c.1116C>A p.Y372* Substitution - Nonsense 38 14:20429335-20429335 - - NEUTRAL .18995 Confirmed somatic variant 585 NS NS ENSP00000341549.4:p.Tyr372Ter ENST00000344581.4:c.1116C>A 14:g.20429335G>T KLHL33 ENST00000344581.4 1602 31952 CSCC-27-T 2292469 2158533 skin head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV60726267 COSM4539823 104617260 c.273G>A p.W91* Substitution - Nonsense het 38 14:20430403-20430403 - - .53407 Confirmed somatic variant 25303977 surgery fresh/frozen primary 72 ENSP00000341549.4:p.Trp91Ter ENST00000344581.4:c.273G>A 14:g.20430403C>T PKD2L2 ENST00000508883.5 1875 9012 J88_T 2194957 2063235 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV51797011 COSM3946864 143318926 c.423C>A p.C141* Substitution - Nonsense 38 5:137894508-137894508 + - NEUTRAL .4177 Confirmed somatic variant 583 NS NS ENSP00000424725.1:p.Cys141Ter ENST00000508883.5:c.423C>A 5:g.137894508C>A PKD2L2 ENST00000508883.5 1875 9012 ILMN13 2816773 2673124 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS y COSV51798912 COSM257739 143315691 c.1342C>T p.R448* Substitution - Nonsense 38 5:137921649-137921649 + - PATHOGENIC .9403 Confirmed somatic variant 29937994 surgery fresh/frozen NS 54 ENSP00000424725.1:p.Arg448Ter ENST00000508883.5:c.1342C>T 5:g.137921649C>T ARSG_ENST00000621439 ENST00000621439.4 1578 24102 TCGA-MP-A4TC-01 2194885 2063163 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV101477871 COSM7782724 168959468 c.421G>T p.G141* Substitution - Nonsense 38 17:68347139-68347139 + - PATHOGENIC .98536 Confirmed somatic variant 417 NS NS 77 ENSP00000480910.1:p.Gly141Ter ENST00000621439.4:c.421G>T 17:g.68347139G>T CELSR1 ENST00000262738.7 9045 1850 7313 2478823 2341585 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV53100691 COSM5614898 101656786 c.5317G>T p.E1773* Substitution - Nonsense 38 22:46399812-46399812 - - PATHOGENIC .93911 Confirmed somatic variant 22510280 NS primary 71 ENSP00000262738.3:p.Glu1773Ter ENST00000262738.7:c.5317G>T 22:g.46399812C>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-039-tumor 2818990 2675289 meninges NS NS NS meningioma atypical NS NS n COSV50369891 COSM4130259 97375980 c.761T>G p.L254* Substitution - Nonsense 38 17:47156994-47156994 - - PATHOGENIC .98732 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Leu254Ter ENST00000066544.7:c.761T>G 17:g.47156994A>C CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-092-tumor 2819022 2675321 meninges NS NS NS meningioma NS NS NS n COSV50369891 COSM4130259 97375980 c.761T>G p.L254* Substitution - Nonsense 38 17:47156994-47156994 - - PATHOGENIC .98732 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Leu254Ter ENST00000066544.7:c.761T>G 17:g.47156994A>C GAB4_ENST00000643316 ENST00000643316.1 2055 18325 2014_Lung_sq_06_T 2744877 2603580 lung NS NS NS carcinoma NS NS NS y COSV68754109 COSM5963796 174753287 c.487G>T p.G163* Substitution - Nonsense 38 22:16988159-16988159 - - NEUTRAL .26555 Confirmed somatic variant 583 NS primary 77 ENSP00000495950.1:p.Gly163Ter ENST00000643316.1:c.487G>T 22:g.16988159C>A GAB4_ENST00000643316 ENST00000643316.1 2055 18325 5-VS034-T1 2869858 2724855 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV105339303 COSM9741495 174752222 c.875G>A p.W292* Substitution - Nonsense 38 22:16970005-16970005 - - .68271 Confirmed somatic variant 26950094 surgery fresh/frozen NS 75 ENSP00000495950.1:p.Trp292Ter ENST00000643316.1:c.875G>A 22:g.16970005C>T GAB4_ENST00000643316 ENST00000643316.1 2055 18325 TCGA-DK-A6AW-01 2193260 2061538 urinary_tract bladder NS NS carcinoma NS NS NS y COSV101271843 COSM7631945 174752324 c.424G>T p.E142* Substitution - Nonsense 38 22:16991927-16991927 - - .62197 Confirmed somatic variant 413 NS NS 70 ENSP00000495950.1:p.Glu142Ter ENST00000643316.1:c.424G>T 22:g.16991927C>A CRLF2_ENST00000381566 ENST00000381566.6 1116 14281 BL-17-K52205 2905639 2759895 NS NS NS NS malignant_melanoma NS NS NS n COSV67493386 COSM4558120 114336712 c.755G>A p.W252* Substitution - Nonsense 38 23:1196792-1196792 - - NEUTRAL .01576 Reported in another cancer sample as somatic 32321774 surgery-fixed metastasis ENSP00000370978.2:p.Trp252Ter ENST00000381566.6:c.755G>A X:g.1196792C>T CRLF2_ENST00000381566 ENST00000381566.6 1116 14281 BL-18-M01449 2905652 2759908 NS NS NS NS malignant_melanoma NS NS NS n COSV105326565 COSM9733196 114336318 c.756G>A p.W252* Substitution - Nonsense 38 23:1196791-1196791 - - NEUTRAL .01602 Reported in another cancer sample as somatic 32321774 surgery-fixed metastasis ENSP00000370978.2:p.Trp252Ter ENST00000381566.6:c.756G>A X:g.1196791C>T CRLF2_ENST00000381566 ENST00000381566.6 1116 14281 PD42129a 2894844 2749332 skin head_neck NS NS malignant_melanoma superficial_spreading NS NS y COSV105326565 COSM9733196 114336318 c.756G>A p.W252* Substitution - Nonsense 38 23:1196791-1196791 - - NEUTRAL .01602 Reported in another cancer sample as somatic 33024263 surgery-fixed metastasis ENSP00000370978.2:p.Trp252Ter ENST00000381566.6:c.756G>A X:g.1196791C>T SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 TCGA-E7-A7DV-01 2193219 2061497 urinary_tract bladder NS NS carcinoma NS NS NS y COSV99581201 COSM7640905 177481499 c.1316C>A p.S439* Substitution - Nonsense 38 21:14510443-14510443 - - PATHOGENIC .99612 Confirmed somatic variant 413 NS NS 44 ENSP00000493867.1:p.Ser439Ter ENST00000647101.1:c.1316C>A 21:g.14510443G>T PKD2L2 ENST00000508883.5 1875 9012 TCGA-D9-A4Z6-06 2263151 2130135 skin NS NS NS malignant_melanoma NS NS NS y COSV51801082 COSM3608838 143314153 c.1101T>A p.Y367* Substitution - Nonsense 38 5:137907867-137907867 + - PATHOGENIC .80527 Confirmed somatic variant 540 NS NS 54 ENSP00000424725.1:p.Tyr367Ter ENST00000508883.5:c.1101T>A 5:g.137907867T>A CELSR1 ENST00000262738.7 9045 1850 ESCC_BICR_050T 2456905 2319742 oesophagus NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV53090719 COSM5440074 101667272 c.1573G>T p.E525* Substitution - Nonsense 38 22:46535598-46535598 - - PATHOGENIC .96278 Confirmed somatic variant 582 NS primary 73 ENSP00000262738.3:p.Glu525Ter ENST00000262738.7:c.1573G>T 22:g.46535598C>A HIPK3_ENST00000525975 ENST00000525975.5 3585 4915 SR 1998482 1883554 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm NS NS NS y COSV57561472 COSM1675933 149191373 c.370C>T p.R124* Substitution - Nonsense het 38 11:33286784-33286784 + - PATHOGENIC .98126 Confirmed somatic variant 23856246 cell-line primary ENSP00000431710.1:p.Arg124Ter ENST00000525975.5:c.370C>T 11:g.33286784C>T PCSK5 ENST00000545128.5 5583 8747 TCGA-DA-A3F8-06 2121583 1995819 skin NS NS NS malignant_melanoma NS NS NS y COSV65084020 COSM1701216 157721106 c.1287G>A p.W429* Substitution - Nonsense 38 9:76134187-76134187 + - PATHOGENIC .98982 Confirmed somatic variant 540 NS NS 39 ENSP00000446280.1:p.Trp429Ter ENST00000545128.5:c.1287G>A 9:g.76134187G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-038-tumor 2818989 2675288 meninges NS NS NS meningioma angiomatous NS NS n COSV50369891 COSM4130259 97375980 c.761T>G p.L254* Substitution - Nonsense 38 17:47156994-47156994 - - PATHOGENIC .98732 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Leu254Ter ENST00000066544.7:c.761T>G 17:g.47156994A>C CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-213-tumor 2819092 2675391 meninges NS NS NS meningioma atypical NS NS n COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A GAB4_ENST00000643316 ENST00000643316.1 2055 18325 2785972 2785972 2643434 stomach NS NS NS adenoma NS NS NS y COSV68754109 COSM5963796 174753287 c.487G>T p.G163* Substitution - Nonsense 38 22:16988159-16988159 - - NEUTRAL .26555 Confirmed somatic variant 27175599 surgery fresh/frozen NS 75 ENSP00000495950.1:p.Gly163Ter ENST00000643316.1:c.487G>T 22:g.16988159C>A CRLF2_ENST00000381566 ENST00000381566.6 1116 14281 P-0006177-T01-IM5 2722556 2581377 skin NS NS NS malignant_melanoma NS NS NS n COSV67494194 COSM6948737 114338045 c.451C>T p.Q151* Substitution - Nonsense het 38 23:1202434-1202434 - - NEUTRAL .01916 Confirmed somatic variant 28481359 surgery - NOS metastasis ENSP00000370978.2:p.Gln151Ter ENST00000381566.6:c.451C>T X:g.1202434G>A SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 PT19_2 2521272 2383615 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV53467892 COSM5900425 177483793 c.1113G>A p.W371* Substitution - Nonsense 38 21:14516946-14516946 - - PATHOGENIC .82774 Confirmed somatic variant 25759019 surgery fresh/frozen NS ENSP00000493867.1:p.Trp371Ter ENST00000647101.1:c.1113G>A 21:g.14516946C>T PKD2L2 ENST00000508883.5 1875 9012 TCGA-B5-A0K6-01 1783395 1687394 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV51794680 COSM1061186 143319444 c.308C>A p.S103* Substitution - Nonsense 38 5:137894393-137894393 + - NEUTRAL .061 Confirmed somatic variant 419 fresh/frozen - NOS primary 58 ENSP00000424725.1:p.Ser103Ter ENST00000508883.5:c.308C>A 5:g.137894393C>A PKD2L2 ENST00000508883.5 1875 9012 TCGA-EO-A3AV-01 2339770 2204753 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV51801352 COSM3236710 143314769 c.655C>T p.R219* Substitution - Nonsense 38 5:137899646-137899646 + - PATHOGENIC .75617 Confirmed somatic variant 419 NS primary 51 ENSP00000424725.1:p.Arg219Ter ENST00000508883.5:c.655C>T 5:g.137899646C>T PKD2L2 ENST00000508883.5 1875 9012 2014_Lung_sq_17_T 2744888 2603591 lung NS NS NS carcinoma NS NS NS y COSV51797011 COSM3946864 143318926 c.423C>A p.C141* Substitution - Nonsense 38 5:137894508-137894508 + - NEUTRAL .4177 Confirmed somatic variant 583 NS primary 65 ENSP00000424725.1:p.Cys141Ter ENST00000508883.5:c.423C>A 5:g.137894508C>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 2857109 2857109 2712409 urinary_tract bladder NS NS carcinoma transitional_cell_carcinoma NS NS y COSV105024115 COSM9530210 97386908 c.1639C>T p.Q547* Substitution - Nonsense 38 17:47138804-47138804 - - PATHOGENIC .9491 Confirmed somatic variant 25096233 surgery - NOS NS ENSP00000066544.3:p.Gln547Ter ENST00000066544.7:c.1639C>T 17:g.47138804G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 NB-0462 1898385 1787069 autonomic_ganglia NS NS NS neuroblastoma NS NS NS y COSV50565426 COSM1284027 97377562 c.174T>A p.Y58* Substitution - Nonsense 38 17:47171994-47171994 - - PATHOGENIC .9659 Reported in another cancer sample as somatic 23334666 NS NS ENSP00000066544.3:p.Tyr58Ter ENST00000066544.7:c.174T>A 17:g.47171994A>T CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-173-tumor 2819066 2675365 meninges NS NS NS meningioma atypical NS NS n COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A CRLF2_ENST00000381566 ENST00000381566.6 1116 14281 5-VS017-T1 2869837 2724834 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV67493386 COSM4558120 114336712 c.755G>A p.W252* Substitution - Nonsense 38 23:1196792-1196792 - - NEUTRAL .01576 Confirmed somatic variant 26950094 surgery fresh/frozen NS 90 ENSP00000370978.2:p.Trp252Ter ENST00000381566.6:c.755G>A X:g.1196792C>T CRLF2_ENST00000381566 ENST00000381566.6 1116 14281 P-0000879-T03-IM5 2719381 2578202 pancreas NS NS NS carcinoid-endocrine_tumour NS NS NS n COSV67493453 COSM6913269 114337697 c.628C>T p.Q210* Substitution - Nonsense het 38 23:1198580-1198580 - - NEUTRAL .00834 Confirmed somatic variant 28481359 surgery-fixed metastasis ENSP00000370978.2:p.Gln210Ter ENST00000381566.6:c.628C>T X:g.1198580G>A SAMSN1_ENST00000647101 ENST00000647101.1 2010 10528 TCGA-NH-A5IV-01 2193436 2061714 large_intestine colon NS NS carcinoma adenocarcinoma NS NS y COSV99580452 COSM7571737 177486715 c.640C>T p.R214* Substitution - Nonsense 38 21:14582441-14582441 - - PATHOGENIC .86738 Confirmed somatic variant 376 NS NS 90 ENSP00000493867.1:p.Arg214Ter ENST00000647101.1:c.640C>T 21:g.14582441G>A PKD2L2 ENST00000508883.5 1875 9012 HCC2998 1998441 1883513 large_intestine colon NS NS carcinoma adenocarcinoma NS NS y COSV51800540 COSM1671888 143313834 c.70G>T p.E24* Substitution - Nonsense het 38 5:137890519-137890519 + - PATHOGENIC .89384 Confirmed somatic variant 23856246 cell-line primary ENSP00000424725.1:p.Glu24Ter ENST00000508883.5:c.70G>T 5:g.137890519G>T PKD2L2 ENST00000508883.5 1875 9012 TCGA-AG-3892-01 1651564 1566351 large_intestine rectum NS NS carcinoma adenocarcinoma NS NS y COSV51798912 COSM257739 143315691 c.1342C>T p.R448* Substitution - Nonsense 38 5:137921649-137921649 + - PATHOGENIC .9403 Confirmed somatic variant 22810696 375 NS primary 57 ENSP00000424725.1:p.Arg448Ter ENST00000508883.5:c.1342C>T 5:g.137921649C>T ARSG_ENST00000621439 ENST00000621439.4 1578 24102 TCGA-49-AAR9-01 2385663 2248495 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV101477866 COSM7728789 168962047 c.556G>T p.G186* Substitution - Nonsense 38 17:68351676-68351676 + - NEUTRAL .13548 Confirmed somatic variant 417 NS primary 61 ENSP00000480910.1:p.Gly186Ter ENST00000621439.4:c.556G>T 17:g.68351676G>T CELSR1 ENST00000262738.7 9045 1850 MELA_21061 2760724 2619257 skin chest NS NS malignant_melanoma superficial_spreading NS NS y COSV104584244 COSM9289558 101656415 c.7783C>T p.Q2595* Substitution - Nonsense 38 22:46369781-46369781 - - PATHOGENIC .91428 Confirmed somatic variant 30178487 surgery fresh/frozen metastasis 23 ENSP00000262738.3:p.Gln2595Ter ENST00000262738.7:c.7783C>T 22:g.46369781G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-065-tumor 2819003 2675302 meninges NS NS NS meningioma transitional NS NS n COSV50369891 COSM4130259 97375980 c.761T>G p.L254* Substitution - Nonsense 38 17:47156994-47156994 - - PATHOGENIC .98732 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Leu254Ter ENST00000066544.7:c.761T>G 17:g.47156994A>C CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-050-tumor 2818996 2675295 meninges NS NS NS meningioma meningothelial NS NS n COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A CRLF2_ENST00000381566 ENST00000381566.6 1116 14281 H2009 2776255 2634391 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV99061027 COSM7362709 114338413 c.245C>A p.S82* Substitution - Nonsense 38 23:1206537-1206537 - - NEUTRAL .00127 Confirmed somatic variant 29681454 NS NS 68 ENSP00000370978.2:p.Ser82Ter ENST00000381566.6:c.245C>A X:g.1206537G>T CRLF2_ENST00000381566 ENST00000381566.6 1116 14281 5-VS031-T1 2869851 2724848 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV105326565 COSM9733196 114336318 c.756G>A p.W252* Substitution - Nonsense 38 23:1196791-1196791 - - NEUTRAL .01602 Confirmed somatic variant 26950094 surgery fresh/frozen NS 65 ENSP00000370978.2:p.Trp252Ter ENST00000381566.6:c.756G>A X:g.1196791C>T MAGED2_ENST00000375053 ENST00000375053.6 1821 16353 PR-00-160 1691494 1599761 prostate NS NS NS carcinoma NS NS NS y COSV54498558 COSM245548 111850382 c.1344C>A p.Y448* Substitution - Nonsense 38 23:54814733-54814733 + - .68031 Variant of unknown origin 22610119 surgery fresh/frozen primary 60 ENSP00000364193.2:p.Tyr448Ter ENST00000375053.6:c.1344C>A X:g.54814733C>A MAGED2_ENST00000375053 ENST00000375053.6 1821 16353 TCGA-B5-A11E-01 1783399 1687398 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV54497499 COSM1123507 111850386 c.838C>T p.Q280* Substitution - Nonsense het 38 23:54811121-54811121 + - PATHOGENIC .93292 Variant of unknown origin 419 fresh/frozen - NOS primary 53 ENSP00000364193.2:p.Gln280Ter ENST00000375053.6:c.838C>T X:g.54811121C>T MAGED2_ENST00000375053 ENST00000375053.6 1821 16353 LUAD-S01357 1765260 1669580 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV54498767 COSM388030 111850288 c.1177G>T p.E393* Substitution - Nonsense 38 23:54813129-54813129 + - PATHOGENIC .9317 Variant of unknown origin 22980975 surgery - NOS primary 57 ENSP00000364193.2:p.Glu393Ter ENST00000375053.6:c.1177G>T X:g.54813129G>T KLHL33 ENST00000344581.4 1602 31952 DD191_Org 2749233 2607933 stomach gastroesophageal_junction NS NS carcinoma adenocarcinoma NS NS y COSV105239224 COSM9835920 104617523 c.687_688delinsAT p.R230* Substitution - Nonsense het 38 14:20429988-20429989 - - Confirmed somatic variant 29703791 organoid culture primary 66 ENSP00000341549.4:p.Arg230Ter ENST00000344581.4:c.687_688delinsAT 14:g.20429988_20429989delinsAT PKD2L2 ENST00000508883.5 1875 9012 TCGA-32-2616-01 2178141 2046439 central_nervous_system brain NS NS glioma astrocytoma_Grade_IV glioblastoma_multiforme NS y COSV99296641 COSM7462682 143318993 c.586C>T p.R196* Substitution - Nonsense 38 5:137899577-137899577 + - NEUTRAL .3518 Confirmed somatic variant 329 NS NS 48 ENSP00000424725.1:p.Arg196Ter ENST00000508883.5:c.586C>T 5:g.137899577C>T PKD2L2 ENST00000508883.5 1875 9012 TCGA-F9-A7VF-01 2193991 2062269 kidney NS NS NS carcinoma papillary_renal_cell_carcinoma NS NS y COSV99220900 COSM8254943 143315704 c.1755C>G p.Y585* Substitution - Nonsense 38 5:137935880-137935880 + - PATHOGENIC .80551 Confirmed somatic variant 543 NS NS 75 ENSP00000424725.1:p.Tyr585Ter ENST00000508883.5:c.1755C>G 5:g.137935880C>G PKD2L2 ENST00000508883.5 1875 9012 TCGA-F5-6814-01 1651640 1566427 large_intestine rectum NS NS carcinoma adenocarcinoma NS NS y COSV51797335 COSM1061194 143314702 c.916G>T p.E306* Substitution - Nonsense 38 5:137906375-137906375 + - PATHOGENIC .87427 Confirmed somatic variant 375 NS primary 57 ENSP00000424725.1:p.Glu306Ter ENST00000508883.5:c.916G>T 5:g.137906375G>T PKD2L2 ENST00000508883.5 1875 9012 TCGA-F5-6814-01 1651640 1566427 large_intestine rectum NS NS carcinoma adenocarcinoma NS NS y COSV51797335 COSM1061194 143314702 c.916G>T p.E306* Substitution - Nonsense 38 5:137906375-137906375 + - PATHOGENIC .87427 Confirmed somatic variant 22810696 375 NS primary 57 ENSP00000424725.1:p.Glu306Ter ENST00000508883.5:c.916G>T 5:g.137906375G>T ARSG_ENST00000621439 ENST00000621439.4 1578 24102 T3508 2658517 2518676 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV71593326 COSM2974948 168960864 c.821G>A p.W274* Substitution - Nonsense 38 17:68368664-68368664 + - NEUTRAL .08355 Confirmed somatic variant 27149842 NS NS 69.83 ENSP00000480910.1:p.Trp274Ter ENST00000621439.4:c.821G>A 17:g.68368664G>A HIPK3_ENST00000525975 ENST00000525975.5 3585 4915 TCGA-KQ-A41N-01 2457399 2320236 urinary_tract bladder NS NS carcinoma NS NS NS y COSV100305487 COSM7656162 149195654 c.436G>T p.E146* Substitution - Nonsense 38 11:33286850-33286850 + - PATHOGENIC .99637 Confirmed somatic variant 413 NS primary 73 ENSP00000431710.1:p.Glu146Ter ENST00000525975.5:c.436G>T 11:g.33286850G>T CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-070-tumor 2819006 2675305 meninges NS NS NS meningioma meningothelial NS NS n COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A CRLF2_ENST00000381566 ENST00000381566.6 1116 14281 P-0000879-T02-IM5 2719380 2578201 pancreas NS NS NS carcinoid-endocrine_tumour NS NS NS n COSV67493453 COSM6913269 114337697 c.628C>T p.Q210* Substitution - Nonsense het 38 23:1198580-1198580 - - NEUTRAL .00834 Confirmed somatic variant 28481359 surgery - NOS metastasis ENSP00000370978.2:p.Gln210Ter ENST00000381566.6:c.628C>T X:g.1198580G>A CRLF2_ENST00000381566 ENST00000381566.6 1116 14281 CSCC-19-T 2292467 2158531 skin head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV67493386 COSM4558120 114336712 c.755G>A p.W252* Substitution - Nonsense het 38 23:1196792-1196792 - - NEUTRAL .01576 Confirmed somatic variant 25303977 surgery fresh/frozen primary 48 ENSP00000370978.2:p.Trp252Ter ENST00000381566.6:c.755G>A X:g.1196792C>T CRLF2_ENST00000381566 ENST00000381566.6 1116 14281 P-0009752-T01-IM5 2725621 2584442 skin NS NS NS malignant_melanoma NS NS NS n COSV67493631 COSM3557994 114336440 c.764G>A p.W255* Substitution - Nonsense het 38 23:1196783-1196783 - - NEUTRAL .00104 Confirmed somatic variant 28481359 surgery-fixed metastasis ENSP00000370978.2:p.Trp255Ter ENST00000381566.6:c.764G>A X:g.1196783C>T MAGED2_ENST00000375053 ENST00000375053.6 1821 16353 TCGA-B5-A0JY-01 1783388 1687387 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV54497278 COSM1123509 111848593 c.934G>T p.E312* Substitution - Nonsense het 38 23:54811597-54811597 + - PATHOGENIC .94914 Reported in another cancer sample as somatic 419 fresh/frozen - NOS primary 50 ENSP00000364193.2:p.Glu312Ter ENST00000375053.6:c.934G>T X:g.54811597G>T MAGED2_ENST00000375053 ENST00000375053.6 1821 16353 Pat_16_B 2492856 2355470 NS NS NS NS malignant_melanoma NS NS NS y COSV54498177 COSM5878085 111850027 c.607C>T p.R203* Substitution - Nonsense 38 23:54810890-54810890 + - PATHOGENIC .86316 Confirmed somatic variant 24265153 surgery-fixed NS 51 ENSP00000364193.2:p.Arg203Ter ENST00000375053.6:c.607C>T X:g.54810890C>T DEF8_ENST00000563795 ENST00000563795.1 1305 25969 PD40845k_lo0005 2875098 2729864 urinary_tract bladder NS NS carcinoma transitional_cell_carcinoma non_papillary_transitional_cell_carcinoma_non_invasive NS y COSV105097542 COSM9860325 158450324 c.13G>T p.E5* Substitution - Nonsense 38 16:89954265-89954265 + - PATHOGENIC .99186 Confirmed somatic variant 33004514 surgery-fixed NS 67 ENSP00000457627.1:p.Glu5Ter ENST00000563795.1:c.13G>T 16:g.89954265G>T DEF8_ENST00000563795 ENST00000563795.1 1305 25969 40M 2466835 2329666 skin forearm NS NS malignant_melanoma desmoplastic NS NS y COSV51920798 COSM404286 158450456 c.802C>T p.R268* Substitution - Nonsense 38 16:89961859-89961859 + - PATHOGENIC .94108 Confirmed somatic variant 26343386 surgery fresh/frozen NS 72 ENSP00000457627.1:p.Arg268Ter ENST00000563795.1:c.802C>T 16:g.89961859C>T PKD2L2 ENST00000508883.5 1875 9012 CHG-12-02832T 2634288 2494684 liver NS NS NS other neoplasm NS NS y COSV51798123 COSM6232050 143320647 c.1557C>A p.Y519* Substitution - Nonsense 38 5:137925045-137925045 + - .66306 Confirmed somatic variant 660 NS primary 63 ENSP00000424725.1:p.Tyr519Ter ENST00000508883.5:c.1557C>A 5:g.137925045C>A HIPK3_ENST00000525975 ENST00000525975.5 3585 4915 TCGA-VQ-A924-01 2340507 2205490 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV100305238 COSM8202239 149192958 c.214C>T p.R72* Substitution - Nonsense 38 11:33286628-33286628 + - PATHOGENIC .8293 Confirmed somatic variant 541 NS primary 69 ENSP00000431710.1:p.Arg72Ter ENST00000525975.5:c.214C>T 11:g.33286628C>T CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-095-tumor 2819024 2675323 meninges NS NS NS meningioma atypical NS NS n COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 GBNEC_14 2907845 2762028 biliary_tract gallbladder NS NS carcinoma small_cell_carcinoma NS NS y COSV50369891 COSM4130259 97375980 c.761T>G p.L254* Substitution - Nonsense 38 17:47156994-47156994 - - PATHOGENIC .98732 Reported in another cancer sample as somatic 33563892 surgery-fixed NS 60 ENSP00000066544.3:p.Leu254Ter ENST00000066544.7:c.761T>G 17:g.47156994A>C CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-265-tumor 2819116 2675415 meninges NS NS NS meningioma atypical NS NS n COSV50369891 COSM4130259 97375980 c.761T>G p.L254* Substitution - Nonsense 38 17:47156994-47156994 - - PATHOGENIC .98732 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Leu254Ter ENST00000066544.7:c.761T>G 17:g.47156994A>C GAB4_ENST00000643316 ENST00000643316.1 2055 18325 TCGA-CQ-6218-01 2193495 2061773 upper_aerodigestive_tract head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV101271948 COSM8297865 174754433 c.1690G>T p.E564* Substitution - Nonsense 38 22:16965197-16965197 - - .67015 Confirmed somatic variant 627 NS NS 52 ENSP00000495950.1:p.Glu564Ter ENST00000643316.1:c.1690G>T 22:g.16965197C>A CRLF2_ENST00000381566 ENST00000381566.6 1116 14281 P-0010172-T01-IM5 2725971 2584792 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS n COSV67494287 COSM6973000 114338615 c.25G>T p.G9* Substitution - Nonsense het 38 23:1212610-1212610 - - NEUTRAL .00526 Confirmed somatic variant 28481359 surgery-fixed primary ENSP00000370978.2:p.Gly9Ter ENST00000381566.6:c.25G>T X:g.1212610C>A CRLF2_ENST00000381566 ENST00000381566.6 1116 14281 TCGA-EE-A2A2-06 2121651 1995887 skin NS NS NS malignant_melanoma NS NS NS y COSV67493631 COSM3557994 114336440 c.764G>A p.W255* Substitution - Nonsense 38 23:1196783-1196783 - - NEUTRAL .00104 Confirmed somatic variant 540 NS NS 71 ENSP00000370978.2:p.Trp255Ter ENST00000381566.6:c.764G>A X:g.1196783C>T CRLF2_ENST00000381566 ENST00000381566.6 1116 14281 TCGA-D3-A5GU-06 2121554 1995790 skin NS NS NS malignant_melanoma NS NS NS y COSV101053685 COSM8055592 114336692 c.138G>A p.W46* Substitution - Nonsense 38 23:1208850-1208850 - - NEUTRAL .00766 Confirmed somatic variant 540 NS NS 36 ENSP00000370978.2:p.Trp46Ter ENST00000381566.6:c.138G>A X:g.1208850C>T NALCN ENST00000251127.10 5217 19082 TCGA-66-2770-01 1782722 1686721 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV51952313 COSM696137 101140001 c.769G>T p.E257* Substitution - Nonsense 38 13:101345296-101345296 - - PATHOGENIC .98728 Variant of unknown origin 418 fresh/frozen - NOS primary 79 ENSP00000251127.6:p.Glu257Ter ENST00000251127.10:c.769G>T 13:g.101345296C>A NALCN ENST00000251127.10 5217 19082 NUGC-3 2807638 2664339 stomach NS NS NS carcinoma adenocarcinoma NS NS y COSV99218717 COSM9144269 101136215 c.4690G>T p.E1564* Substitution - Nonsense 38 13:101062033-101062033 - - PATHOGENIC .98352 Variant of unknown origin 24807215 cell-line NS 72 ENSP00000251127.6:p.Glu1564Ter ENST00000251127.10:c.4690G>T 13:g.101062033C>A PKD2L2 ENST00000508883.5 1875 9012 CSCC-18-T 2292466 2158530 skin head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV51797135 COSM4521984 143320140 c.1139G>A p.W380* Substitution - Nonsense het 38 5:137907905-137907905 + - PATHOGENIC .99269 Confirmed somatic variant 25303977 surgery fresh/frozen primary 60 ENSP00000424725.1:p.Trp380Ter ENST00000508883.5:c.1139G>A 5:g.137907905G>A PCSK5 ENST00000545128.5 5583 8747 S00733 2864337 2719497 lung NS NS NS carcinoma large_cell_neuroendocrine_carcinoma NS NS y COSV105310724 COSM9589911 157705168 c.316C>T p.Q106* Substitution - Nonsense 38 9:75986150-75986150 + - PATHOGENIC .94762 Confirmed somatic variant 29535388 surgery fresh/frozen NS 63 ENSP00000446280.1:p.Gln106Ter ENST00000545128.5:c.316C>T 9:g.75986150C>T PCSK5 ENST00000545128.5 5583 8747 MSU4-c 2809981 2666643 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS y COSV65083956 COSM1110085 157696875 c.727C>T p.R243* Substitution - Nonsense 38 9:76071731-76071731 + - PATHOGENIC .98243 Confirmed somatic variant 26336987 surgery fresh/frozen primary 76 ENSP00000446280.1:p.Arg243Ter ENST00000545128.5:c.727C>T 9:g.76071731C>T CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-195-tumor 2819080 2675379 meninges NS NS NS meningioma atypical NS NS n COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 MG-190-tumor 2819076 2675375 meninges NS NS NS meningioma atypical NS NS n COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Reported in another cancer sample as somatic 28713588 surgery - NOS NS ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A GAB4_ENST00000643316 ENST00000643316.1 2055 18325 KPOPBR-014-T 2633594 2493990 breast NS NS NS carcinoma NS NS NS y COSV68754109 COSM5963796 174753287 c.487G>T p.G163* Substitution - Nonsense 38 22:16988159-16988159 - - NEUTRAL .26555 Confirmed somatic variant 669 NS primary 33 ENSP00000495950.1:p.Gly163Ter ENST00000643316.1:c.487G>T 22:g.16988159C>A CRLF2_ENST00000381566 ENST00000381566.6 1116 14281 TCGA-D3-A5GU-06 2121554 1995790 skin NS NS NS malignant_melanoma NS NS NS y COSV67494438 COSM6939341 114336263 c.137G>A p.W46* Substitution - Nonsense 38 23:1208851-1208851 - - NEUTRAL .00772 Confirmed somatic variant 540 NS NS 36 ENSP00000370978.2:p.Trp46Ter ENST00000381566.6:c.137G>A X:g.1208851C>T CRLF2_ENST00000381566 ENST00000381566.6 1116 14281 P-0004865-T01-IM5 2721269 2580090 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS n COSV67494438 COSM6939341 114336263 c.137G>A p.W46* Substitution - Nonsense het 38 23:1208851-1208851 - - NEUTRAL .00772 Confirmed somatic variant 28481359 surgery - NOS primary ENSP00000370978.2:p.Trp46Ter ENST00000381566.6:c.137G>A X:g.1208851C>T CRLF2_ENST00000381566 ENST00000381566.6 1116 14281 TCGA-66-2755-01 1782544 1686543 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV101053561 COSM8745542 114338882 c.597C>G p.Y199* Substitution - Nonsense 38 23:1198611-1198611 - - NEUTRAL .02925 Confirmed somatic variant 418 fresh/frozen - NOS primary 63 ENSP00000370978.2:p.Tyr199Ter ENST00000381566.6:c.597C>G X:g.1198611G>C CRLF2_ENST00000381566 ENST00000381566.6 1116 14281 P-0006960-T01-IM5 2723335 2582156 large_intestine colon sigmoid NS carcinoma adenocarcinoma NS NS n COSV67494417 COSM6955330 114337706 c.73G>T p.G25* Substitution - Nonsense het 38 23:1212562-1212562 - - NEUTRAL .00542 Confirmed somatic variant 28481359 surgery-fixed primary ENSP00000370978.2:p.Gly25Ter ENST00000381566.6:c.73G>T X:g.1212562C>A MAGED2_ENST00000375053 ENST00000375053.6 1821 16353 TCGA-AB-2807-03 1650299 1565086 haematopoietic_and_lymphoid_tissue NS NS NS haematopoietic_neoplasm acute_myeloid_leukaemia NS NS y COSV99514463 COSM7631325 111850038 c.1102A>T p.K368* Substitution - Nonsense 38 23:54812961-54812961 + - PATHOGENIC .98901 Confirmed somatic variant 377 blood-bone marrow NS 68 ENSP00000364193.2:p.Lys368Ter ENST00000375053.6:c.1102A>T X:g.54812961A>T MAGED2_ENST00000375053 ENST00000375053.6 1821 16353 MBC_189 2662691 2522815 breast NS NS NS carcinoma ER-PR-positive_carcinoma NS NS y COSV54499096 COSM6585562 111850413 c.191C>G p.S64* Substitution - Nonsense 38 23:54809867-54809867 + - .58414 Confirmed somatic variant 28027327 fresh/frozen - NOS metastasis ENSP00000364193.2:p.Ser64Ter ENST00000375053.6:c.191C>G X:g.54809867C>G DEF8_ENST00000563795 ENST00000563795.1 1305 25969 Thyroid-CN-WZ047T 2635108 2495504 thyroid NS NS NS carcinoma NS NS NS y COSV51919728 COSM6372580 158451049 c.361C>T p.Q121* Substitution - Nonsense 38 16:89957649-89957649 + - PATHOGENIC .99054 Confirmed somatic variant 676 NS primary 54 ENSP00000457627.1:p.Gln121Ter ENST00000563795.1:c.361C>T 16:g.89957649C>T PKD2L2 ENST00000508883.5 1875 9012 5-VS037-T6 2869866 2724863 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV105009876 COSM9765900 143316151 c.303G>A p.W101* Substitution - Nonsense 38 5:137894388-137894388 + - PATHOGENIC .97874 Confirmed somatic variant 26950094 surgery fresh/frozen NS 83 ENSP00000424725.1:p.Trp101Ter ENST00000508883.5:c.303G>A 5:g.137894388G>A PKD2L2 ENST00000508883.5 1875 9012 TCGA-DX-A6YQ-01 2269887 2136655 soft_tissue NS NS NS sarcoma NS NS NS y COSV99296750 COSM8445425 143316504 c.105C>A p.Y35* Substitution - Nonsense 38 5:137890554-137890554 + - PATHOGENIC .87714 Confirmed somatic variant 635 NS NS ENSP00000424725.1:p.Tyr35Ter ENST00000508883.5:c.105C>A 5:g.137890554C>A HIPK3_ENST00000525975 ENST00000525975.5 3585 4915 TCGA-FS-A1ZG-06 2121759 1995995 skin NS NS NS malignant_melanoma NS NS NS y COSV100305865 COSM8130441 149192067 c.1357G>T p.E453* Substitution - Nonsense 38 11:33338772-33338772 + - PATHOGENIC .99756 Confirmed somatic variant 540 NS NS 60 ENSP00000431710.1:p.Glu453Ter ENST00000525975.5:c.1357G>T 11:g.33338772G>T PCSK5 ENST00000545128.5 5583 8747 TCGA-B5-A1MR-01 2198376 2066654 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV100950655 COSM8922047 157725659 c.2469C>A p.Y823* Substitution - Nonsense 38 9:76189182-76189182 + - PATHOGENIC .96356 Confirmed somatic variant 419 NS NS 65 ENSP00000446280.1:p.Tyr823Ter ENST00000545128.5:c.2469C>A 9:g.76189182C>A PCSK5 ENST00000545128.5 5583 8747 HCC45T 2120843 1995079 liver NS NS NS carcinoma NS NS NS y COSV70449481 COSM3664411 157712473 c.5574C>G p.Y1858* Substitution - Nonsense 38 9:76358913-76358913 + - NEUTRAL .30165 Confirmed somatic variant 323 NS NS ENSP00000446280.1:p.Tyr1858Ter ENST00000545128.5:c.5574C>G 9:g.76358913C>G CRLF2_ENST00000381566 ENST00000381566.6 1116 14281 P-0012244-T01-IM5 2727351 2586172 central_nervous_system brain NS NS glioma astrocytoma_Grade_IV glioblastoma_multiforme NS n COSV67493978 COSM6983668 114337546 c.91C>T p.Q31* Substitution - Nonsense het 38 23:1208897-1208897 - - NEUTRAL .0173 Confirmed somatic variant 28481359 surgery-fixed primary ENSP00000370978.2:p.Gln31Ter ENST00000381566.6:c.91C>T X:g.1208897G>A PKD2L2 ENST00000508883.5 1875 9012 CHC892T 2340454 2205437 liver NS NS NS carcinoma hepatocellular_carcinoma NS NS y COSV51802332 COSM4793612 143317362 c.568G>T p.G190* Substitution - Nonsense 38 5:137899559-137899559 + - PATHOGENIC .98902 Confirmed somatic variant 381 NS primary 72 ENSP00000424725.1:p.Gly190Ter ENST00000508883.5:c.568G>T 5:g.137899559G>T CELSR1 ENST00000262738.7 9045 1850 CSCC-27-T 2292469 2158533 skin head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV53090379 COSM4485654 101658411 c.2956C>T p.Q986* Substitution - Nonsense het 38 22:46534215-46534215 - - PATHOGENIC .93088 Confirmed somatic variant 25303977 surgery fresh/frozen primary 72 ENSP00000262738.3:p.Gln986Ter ENST00000262738.7:c.2956C>T 22:g.46534215G>A CELSR1 ENST00000262738.7 9045 1850 T3610 2296239 2161842 large_intestine caecum NS NS carcinoma adenocarcinoma NS NS y COSV53086806 COSM4671446 101652641 c.3967C>T p.R1323* Substitution - Nonsense 38 22:46463923-46463923 - - .61158 Confirmed somatic variant 25344691 NS NS 79.5 ENSP00000262738.3:p.Arg1323Ter ENST00000262738.7:c.3967C>T 22:g.46463923G>A HIPK3_ENST00000525975 ENST00000525975.5 3585 4915 T116 2658237 2518396 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV57561750 COSM926477 149192502 c.1489G>T p.E497* Substitution - Nonsense 38 11:33339410-33339410 + - PATHOGENIC .95784 Confirmed somatic variant 27149842 NS NS 52.58 ENSP00000431710.1:p.Glu497Ter ENST00000525975.5:c.1489G>T 11:g.33339410G>T SCMH1_ENST00000361191 ENST00000361191.9 1734 19003 TCGA-A3-3365-01 1779789 1683788 kidney NS NS NS carcinoma clear_cell_renal_cell_carcinoma NS NS y COSV58235311 COSM1492086 110276542 c.453C>A p.C151* Substitution - Nonsense 38 1:41113362-41113362 - - PATHOGENIC .94206 Variant of unknown origin 416 fresh/frozen - NOS primary 46 ENSP00000354656.5:p.Cys151Ter ENST00000361191.9:c.453C>A 1:g.41113362G>T CDC27_ENST00000066544 ENST00000066544.7 2475 1728 ESCC_00221 2867675 2722698 oesophagus lower_third NS NS carcinoma squamous_cell_carcinoma NS NS y COSV50369891 COSM4130259 97375980 c.761T>G p.L254* Substitution - Nonsense 38 17:47156994-47156994 - - PATHOGENIC .98732 Confirmed somatic variant 27058444 surgery fresh/frozen NS 49 ENSP00000066544.3:p.Leu254Ter ENST00000066544.7:c.761T>G 17:g.47156994A>C CDC27_ENST00000066544 ENST00000066544.7 2475 1728 ESCC_00221 2867675 2722698 oesophagus lower_third NS NS carcinoma squamous_cell_carcinoma NS NS y COSV50392356 COSM4130273 97378805 c.635T>G p.L212* Substitution - Nonsense 38 17:47157120-47157120 - - PATHOGENIC .97409 Confirmed somatic variant 27058444 surgery fresh/frozen NS 49 ENSP00000066544.3:p.Leu212Ter ENST00000066544.7:c.635T>G 17:g.47157120A>C GAB4_ENST00000643316 ENST00000643316.1 2055 18325 RK195_C01 2194720 2062998 liver NS NS NS carcinoma NS NS NS y COSV68753582 COSM3740330 174751866 c.550C>T p.Q184* Substitution - Nonsense 38 22:16988096-16988096 - - .66554 Confirmed somatic variant 322 NS NS ENSP00000495950.1:p.Gln184Ter ENST00000643316.1:c.550C>T 22:g.16988096G>A CRLF2_ENST00000381566 ENST00000381566.6 1116 14281 CSCC-47-T 2292483 2158547 skin head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV67494134 COSM4552134 114338208 c.54G>A p.W18* Substitution - Nonsense het 38 23:1212581-1212581 - - NEUTRAL .00338 Confirmed somatic variant 25303977 surgery fresh/frozen primary 56 ENSP00000370978.2:p.Trp18Ter ENST00000381566.6:c.54G>A X:g.1212581C>T DEF8_ENST00000563795 ENST00000563795.1 1305 25969 TCGA-53-7626-01 1913997 1802279 lung right_upper_lobe NS NS carcinoma adenocarcinoma NS NS y COSV99240300 COSM7768177 158452297 c.124G>T p.E42* Substitution - Nonsense 38 16:89954376-89954376 + - PATHOGENIC .96934 Confirmed somatic variant 417 fresh/frozen - NOS primary 76 ENSP00000457627.1:p.Glu42Ter ENST00000563795.1:c.124G>T 16:g.89954376G>T NALCN ENST00000251127.10 5217 19082 2834140 2834140 2689924 skin mucosal female_genital_tract_(site_indeterminate) NS malignant_melanoma NS NS NS y COSV104568249 COSM9344392 101125991 c.1415C>A p.S472* Substitution - Nonsense 38 13:101237774-101237774 - - PATHOGENIC .98744 Variant of unknown origin 28296713 surgery - NOS primary 66 ENSP00000251127.6:p.Ser472Ter ENST00000251127.10:c.1415C>A 13:g.101237774G>T PKD2L2 ENST00000508883.5 1875 9012 35M 2466833 2329664 skin trunk NS NS malignant_melanoma desmoplastic NS NS y COSV51795313 COSM5582129 143318799 c.511C>T p.Q171* Substitution - Nonsense 38 5:137894596-137894596 + - NEUTRAL .07172 Confirmed somatic variant 26343386 surgery fresh/frozen NS 30 ENSP00000424725.1:p.Gln171Ter ENST00000508883.5:c.511C>T 5:g.137894596C>T CELSR1 ENST00000262738.7 9045 1850 TCGA-18-3416-01 1780387 1684386 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99417145 COSM7915301 101657386 c.2455G>T p.G819* Substitution - Nonsense 38 22:46534716-46534716 - - PATHOGENIC .93125 Confirmed somatic variant 418 fresh/frozen - NOS primary 83 ENSP00000262738.3:p.Gly819Ter ENST00000262738.7:c.2455G>T 22:g.46534716C>A PCSK5 ENST00000545128.5 5583 8747 TCGA-BF-AAP1-01 2380422 2243254 skin NS NS NS malignant_melanoma NS NS NS y COSV70449546 COSM3927016 157704271 c.2772G>A p.W924* Substitution - Nonsense 38 9:76233502-76233502 + - PATHOGENIC .75544 Confirmed somatic variant 540 NS primary 86 ENSP00000446280.1:p.Trp924Ter ENST00000545128.5:c.2772G>A 9:g.76233502G>A CRLF2_ENST00000381566 ENST00000381566.6 1116 14281 TCGA-E7-A7DV-01 2193219 2061497 urinary_tract bladder NS NS carcinoma NS NS NS y COSV101053667 COSM7640916 114337350 c.265G>T p.E89* Substitution - Nonsense 38 23:1206517-1206517 - - NEUTRAL .00115 Confirmed somatic variant 413 NS NS 44 ENSP00000370978.2:p.Glu89Ter ENST00000381566.6:c.265G>T X:g.1206517C>A CRLF2_ENST00000381566 ENST00000381566.6 1116 14281 P-0009744-T01-IM5 2725613 2584434 skin NS NS NS malignant_melanoma NS NS NS n COSV67493386 COSM4558120 114336712 c.755G>A p.W252* Substitution - Nonsense het 38 23:1196792-1196792 - - NEUTRAL .01576 Confirmed somatic variant 28481359 surgery-fixed metastasis ENSP00000370978.2:p.Trp252Ter ENST00000381566.6:c.755G>A X:g.1196792C>T CRLF2_ENST00000381566 ENST00000381566.6 1116 14281 P-0006155-T02-IM5 2722533 2581354 skin NS NS NS malignant_melanoma NS NS NS n COSV67493386 COSM4558120 114336712 c.755G>A p.W252* Substitution - Nonsense het 38 23:1196792-1196792 - - NEUTRAL .01576 Confirmed somatic variant 28481359 surgery - NOS metastasis ENSP00000370978.2:p.Trp252Ter ENST00000381566.6:c.755G>A X:g.1196792C>T MAGED2_ENST00000375053 ENST00000375053.6 1821 16353 Thyroid-CN-WZ045T 2635106 2495502 thyroid NS NS NS carcinoma NS NS NS y COSV54497716 COSM6427495 111848821 c.1363A>T p.K455* Substitution - Nonsense 38 23:54814752-54814752 + - PATHOGENIC .73217 Confirmed somatic variant 676 NS primary 60 ENSP00000364193.2:p.Lys455Ter ENST00000375053.6:c.1363A>T X:g.54814752A>T DEF8_ENST00000563795 ENST00000563795.1 1305 25969 W34T 2745057 2603760 thyroid NS NS NS carcinoma NS NS NS y COSV51919728 COSM6372580 158451049 c.361C>T p.Q121* Substitution - Nonsense 38 16:89957649-89957649 + - PATHOGENIC .99054 Confirmed somatic variant 676 NS primary 54 ENSP00000457627.1:p.Gln121Ter ENST00000563795.1:c.361C>T 16:g.89957649C>T NALCN ENST00000251127.10 5217 19082 LUAD-RT-S01699 1765233 1669553 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV51946325 COSM378186 101116158 c.2067C>A p.C689* Substitution - Nonsense 38 13:101143131-101143131 - - .64333 Variant of unknown origin 22980975 surgery - NOS primary 51 ENSP00000251127.6:p.Cys689Ter ENST00000251127.10:c.2067C>A 13:g.101143131G>T PKD2L2 ENST00000508883.5 1875 9012 TCGA-EE-A2MM-06 2121684 1995920 skin NS NS NS malignant_melanoma NS NS NS y COSV99295856 COSM8079607 143316039 c.1225G>T p.G409* Substitution - Nonsense 38 5:137908843-137908843 + - PATHOGENIC .99319 Confirmed somatic variant 540 NS NS 63 ENSP00000424725.1:p.Gly409Ter ENST00000508883.5:c.1225G>T 5:g.137908843G>T PKD2L2 ENST00000508883.5 1875 9012 EXTERN_MELA_20140530_018 2839468 2695234 skin face NS NS malignant_melanoma NS NS NS y COSV104617229 COSM9440303 143320507 c.1140G>A p.W380* Substitution - Nonsense 38 5:137907906-137907906 + - PATHOGENIC .99269 Confirmed somatic variant 28467829 surgery fresh/frozen primary ENSP00000424725.1:p.Trp380Ter ENST00000508883.5:c.1140G>A 5:g.137907906G>A APBB1_ENST00000618005 ENST00000618005.4 1356 581 2834144 2834144 2689928 skin mucosal nasopharynx NS malignant_melanoma NS NS NS y COSV104599148 COSM9328157 170065608 c.949G>T p.E317* Substitution - Nonsense 38 11:6396162-6396162 - - PATHOGENIC .93485 Variant of unknown origin 28296713 surgery - NOS primary 90 ENSP00000484493.1:p.Glu317Ter ENST00000618005.4:c.949G>T 11:g.6396162C>A APBB1_ENST00000618005 ENST00000618005.4 1356 581 TCGA-D1-A17Q-01 1783533 1687532 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV54974409 COSM274002 170063230 c.166G>T p.E56* Substitution - Nonsense het 38 11:6403499-6403499 - - PATHOGENIC .95976 Reported in another cancer sample as somatic 419 fresh/frozen - NOS primary 54 ENSP00000484493.1:p.Glu56Ter ENST00000618005.4:c.166G>T 11:g.6403499C>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 B80-3-Tumor 2186365 2054662 urinary_tract bladder NS NS carcinoma NS NS NS y COSV50367115 COSM3932648 97378843 c.298C>T p.Q100* Substitution - Nonsense 38 17:47169996-47169996 - - PATHOGENIC .98685 Confirmed somatic variant 581 NS NS ENSP00000066544.3:p.Gln100Ter ENST00000066544.7:c.298C>T 17:g.47169996G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 H_QD-WAPAT079-V0DHRD 2842929 2698383 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm plasma_cell_myeloma NS NS n COSV104546668 COSM9514006 97400730 c.1609G>T p.E537* Substitution - Nonsense 38 17:47138834-47138834 - - PATHOGENIC .93744 Confirmed somatic variant 29563506 blood-bone marrow NS ENSP00000066544.3:p.Glu537Ter ENST00000066544.7:c.1609G>T 17:g.47138834C>A EFR3A_ENST00000519656 ENST00000519656.1 2358 28970 TCGA-AX-A05Z-01 1783365 1687364 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV54453852 COSM1096145 147057186 c.520G>T p.E174* Substitution - Nonsense het 38 8:131953957-131953957 + - PATHOGENIC .99042 Variant of unknown origin 419 fresh/frozen - NOS primary 37 ENSP00000428086.1:p.Glu174Ter ENST00000519656.1:c.520G>T 8:g.131953957G>T CRLF2_ENST00000381566 ENST00000381566.6 1116 14281 P-0000879-T01-IM3 2716177 2574998 pancreas NS NS NS carcinoid-endocrine_tumour NS NS NS n COSV67493453 COSM6913269 114337697 c.628C>T p.Q210* Substitution - Nonsense het 38 23:1198580-1198580 - - NEUTRAL .00834 Confirmed somatic variant 28481359 surgery-fixed metastasis ENSP00000370978.2:p.Gln210Ter ENST00000381566.6:c.628C>T X:g.1198580G>A MAGED2_ENST00000375053 ENST00000375053.6 1821 16353 TCGA-55-7994-01 2194892 2063170 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV99514721 COSM7750043 111848605 c.1429G>T p.E477* Substitution - Nonsense 38 23:54815290-54815290 + - PATHOGENIC .89098 Confirmed somatic variant 417 NS NS 81 ENSP00000364193.2:p.Glu477Ter ENST00000375053.6:c.1429G>T X:g.54815290G>T DEF8_ENST00000563795 ENST00000563795.1 1305 25969 CHG-14-15016T 2634332 2494728 liver NS NS NS other neoplasm NS NS y COSV51920605 COSM6267314 158450747 c.595G>T p.E199* Substitution - Nonsense 38 16:89961011-89961011 + - PATHOGENIC .98923 Confirmed somatic variant 660 NS primary 70 ENSP00000457627.1:p.Glu199Ter ENST00000563795.1:c.595G>T 16:g.89961011G>T NALCN ENST00000251127.10 5217 19082 H2030 2776257 2634393 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV51943638 COSM2047969 101107045 c.799G>T p.G267* Substitution - Nonsense 38 13:101345266-101345266 - - PATHOGENIC .9752 Variant of unknown origin 29681454 NS NS ENSP00000251127.6:p.Gly267Ter ENST00000251127.10:c.799G>T 13:g.101345266C>A NALCN ENST00000251127.10 5217 19082 H1435 2776320 2634456 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV51956765 COSM2047815 101106648 c.4090G>T p.E1364* Substitution - Nonsense 38 13:101074527-101074527 - - PATHOGENIC .98218 Variant of unknown origin 29681454 NS NS 35 ENSP00000251127.6:p.Glu1364Ter ENST00000251127.10:c.4090G>T 13:g.101074527C>A NALCN ENST00000251127.10 5217 19082 GBC_15 2907861 2762044 biliary_tract gallbladder NS NS carcinoma adenocarcinoma NS NS y COSV105861643 COSM10036944 101133584 c.1940C>A p.S647* Substitution - Nonsense 38 13:101144796-101144796 - - PATHOGENIC .98109 Variant of unknown origin 33563892 surgery-fixed NS 59 ENSP00000251127.6:p.Ser647Ter ENST00000251127.10:c.1940C>A 13:g.101144796G>T NALCN ENST00000251127.10 5217 19082 H1435 2776320 2634456 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV51956774 COSM2047820 101106659 c.3900C>A p.Y1300* Substitution - Nonsense 38 13:101075927-101075927 - - PATHOGENIC .93796 Variant of unknown origin 29681454 NS NS 35 ENSP00000251127.6:p.Tyr1300Ter ENST00000251127.10:c.3900C>A 13:g.101075927G>T NALCN ENST00000251127.10 5217 19082 TCGA-38-4631-01 1780095 1684094 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV51960979 COSM6074117 101112978 c.1317T>A p.C439* Substitution - Nonsense 38 13:101237872-101237872 - - PATHOGENIC .8609 Variant of unknown origin 417 fresh/frozen - NOS primary 72 ENSP00000251127.6:p.Cys439Ter ENST00000251127.10:c.1317T>A 13:g.101237872A>T SCMH1_ENST00000361191 ENST00000361191.9 1734 19003 ASCC5-1T 2872601 2727598 large_intestine anus NS NS carcinoma squamous_cell_carcinoma NS NS y COSV105219916 COSM9810292 110277153 c.1573C>T p.Q525* Substitution - Nonsense 38 1:41028619-41028619 - - PATHOGENIC .8366 Confirmed somatic variant 29555573 surgery-fixed primary 48 ENSP00000354656.5:p.Gln525Ter ENST00000361191.9:c.1573C>T 1:g.41028619G>A PCSK5 ENST00000545128.5 5583 8747 7C 2549418 2410873 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV65083956 COSM1110085 157696875 c.727C>T p.R243* Substitution - Nonsense 38 9:76071731-76071731 + - PATHOGENIC .98243 Confirmed somatic variant 646 NS primary 66 ENSP00000446280.1:p.Arg243Ter ENST00000545128.5:c.727C>T 9:g.76071731C>T CDC27_ENST00000066544 ENST00000066544.7 2475 1728 H_QD-WAPAT045-V0DHPH 2842895 2698349 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm plasma_cell_myeloma NS NS n COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Confirmed somatic variant 29563506 blood-bone marrow NS ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 WGC003616 2785057 2645173 biliary_tract bile_duct NS NS carcinoma adenocarcinoma NS NS y COSV50367115 COSM3932648 97378843 c.298C>T p.Q100* Substitution - Nonsense 38 17:47169996-47169996 - - PATHOGENIC .98685 Confirmed somatic variant 25526346 surgery fresh/frozen primary 59 ENSP00000066544.3:p.Gln100Ter ENST00000066544.7:c.298C>T 17:g.47169996G>A EFR3A_ENST00000519656 ENST00000519656.1 2358 28970 TCGA-AP-A056-01 1783334 1687333 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV54459896 COSM1096142 147061584 c.49C>T p.R17* Substitution - Nonsense het 38 8:131944814-131944814 + - PATHOGENIC .96208 Variant of unknown origin 419 fresh/frozen - NOS primary 64 ENSP00000428086.1:p.Arg17Ter ENST00000519656.1:c.49C>T 8:g.131944814C>T EFR3A_ENST00000519656 ENST00000519656.1 2358 28970 TCGA-D1-A17Q-01 1783533 1687532 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV54454006 COSM1096152 147058844 c.1381C>T p.R461* Substitution - Nonsense het 38 8:131979009-131979009 + - .52341 Reported in another cancer sample as somatic 419 fresh/frozen - NOS primary 54 ENSP00000428086.1:p.Arg461Ter ENST00000519656.1:c.1381C>T 8:g.131979009C>T EFR3A_ENST00000519656 ENST00000519656.1 2358 28970 TCGA-BS-A0UF-01 1783473 1687472 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV54453114 COSM1096146 147055489 c.610G>T p.E204* Substitution - Nonsense het 38 8:131955847-131955847 + - PATHOGENIC .97449 Reported in another cancer sample as somatic 419 fresh/frozen - NOS primary 65 ENSP00000428086.1:p.Glu204Ter ENST00000519656.1:c.610G>T 8:g.131955847G>T MAGED2_ENST00000375053 ENST00000375053.6 1821 16353 TCGA-AX-A0J0-01 1783376 1687375 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV54497278 COSM1123509 111848593 c.934G>T p.E312* Substitution - Nonsense 38 23:54811597-54811597 + - PATHOGENIC .94914 Confirmed somatic variant 419 fresh/frozen - NOS primary 47 ENSP00000364193.2:p.Glu312Ter ENST00000375053.6:c.934G>T X:g.54811597G>T ANKS6 ENST00000353234.4 2616 26724 TCGA-D1-A167-01 1783503 1687502 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV62052071 COSM1103149 110297006 c.1027C>T p.Q343* Substitution - Nonsense het 38 9:98784038-98784038 - - PATHOGENIC .98016 Variant of unknown origin 419 fresh/frozen - NOS primary 70 ENSP00000297837.6:p.Gln343Ter ENST00000353234.4:c.1027C>T 9:g.98784038G>A ANKS6 ENST00000353234.4 2616 26724 TCGA-AX-A0J0-01 1783376 1687375 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV62050791 COSM1103145 110301170 c.1585G>T p.G529* Substitution - Nonsense het 38 9:98777437-98777437 - - .66162 Variant of unknown origin 419 fresh/frozen - NOS primary 47 ENSP00000297837.6:p.Gly529Ter ENST00000353234.4:c.1585G>T 9:g.98777437C>A ANKS6 ENST00000353234.4 2616 26724 PD36792a 2894864 2749352 skin head_neck NS NS malignant_melanoma NS NS NS y COSV62049044 COSM1103144 110296723 c.1621C>T p.R541* Substitution - Nonsense 38 9:98774077-98774077 - - PATHOGENIC .79744 Reported in another cancer sample as somatic 33024263 surgery-fixed metastasis 72 ENSP00000297837.6:p.Arg541Ter ENST00000353234.4:c.1621C>T 9:g.98774077G>A ANKS6 ENST00000353234.4 2616 26724 587376 1766805 1671125 large_intestine colon NS NS carcinoma adenocarcinoma NS NS y COSV62050519 COSM1182990 110298528 c.1234C>T p.R412* Substitution - Nonsense 38 9:98780323-98780323 - - PATHOGENIC .98371 Reported in another cancer sample as somatic 22895193 surgery fresh/frozen primary ENSP00000297837.6:p.Arg412Ter ENST00000353234.4:c.1234C>T 9:g.98780323G>A NALCN ENST00000251127.10 5217 19082 2834129 2834129 2689913 skin mucosal anorectal NS malignant_melanoma NS NS NS y COSV104568305 COSM9316474 101146131 c.1873G>T p.E625* Substitution - Nonsense 38 13:101144863-101144863 - - PATHOGENIC .91657 Variant of unknown origin 28296713 surgery - NOS metastasis 69 ENSP00000251127.6:p.Glu625Ter ENST00000251127.10:c.1873G>T 13:g.101144863C>A APBB1_ENST00000618005 ENST00000618005.4 1356 581 CHG-2014-1747T 2634359 2494755 liver NS NS NS other neoplasm NS NS y COSV54981181 COSM6339788 170063570 c.624C>A p.Y208* Substitution - Nonsense 38 11:6401676-6401676 - - PATHOGENIC .73797 Confirmed somatic variant 660 NS primary 59 ENSP00000484493.1:p.Tyr208Ter ENST00000618005.4:c.624C>A 11:g.6401676G>T ARSG_ENST00000621439 ENST00000621439.4 1578 24102 TCGA-BF-AAOX-01 2457482 2320319 skin NS NS NS malignant_melanoma NS NS NS y COSV101477874 COSM7932656 168962962 c.661C>T p.Q221* Substitution - Nonsense 38 17:68356761-68356761 + - NEUTRAL .16871 Confirmed somatic variant 540 NS primary 83 ENSP00000480910.1:p.Gln221Ter ENST00000621439.4:c.661C>T 17:g.68356761C>T SCMH1_ENST00000361191 ENST00000361191.9 1734 19003 ASCC5-2T 2872602 2727599 large_intestine anus NS NS carcinoma squamous_cell_carcinoma NS NS y COSV105219916 COSM9810292 110277153 c.1573C>T p.Q525* Substitution - Nonsense 38 1:41028619-41028619 - - PATHOGENIC .8366 Confirmed somatic variant 29555573 surgery-fixed metastasis 48 ENSP00000354656.5:p.Gln525Ter ENST00000361191.9:c.1573C>T 1:g.41028619G>A PCSK5 ENST00000545128.5 5583 8747 APGI-AMP-2713 2866031 2721108 pancreas ampulla_of_Vater NS NS carcinoma ductal_carcinoma NS NS y COSV65083956 COSM1110085 157696875 c.727C>T p.R243* Substitution - Nonsense 38 9:76071731-76071731 + - PATHOGENIC .98243 Confirmed somatic variant 26804919 surgery fresh/frozen NS ENSP00000446280.1:p.Arg243Ter ENST00000545128.5:c.727C>T 9:g.76071731C>T CDC27_ENST00000066544 ENST00000066544.7 2475 1728 Patient_3_Relapse 2458461 2321298 haematopoietic_and_lymphoid_tissue NS NS NS lymphoid_neoplasm acute_lymphoblastic_leukaemia NS NS y COSV50364706 COSM4386179 97376364 c.796C>T p.R266* Substitution - Nonsense 38 17:47156959-47156959 - - PATHOGENIC .97216 Confirmed somatic variant 26189108 blood-bone marrow recurrent 6 ENSP00000066544.3:p.Arg266Ter ENST00000066544.7:c.796C>T 17:g.47156959G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 CHG-12-24294T 2634300 2494696 liver NS NS NS other neoplasm NS NS y COSV50367115 COSM3932648 97378843 c.298C>T p.Q100* Substitution - Nonsense 38 17:47169996-47169996 - - PATHOGENIC .98685 Confirmed somatic variant 660 NS primary 40 ENSP00000066544.3:p.Gln100Ter ENST00000066544.7:c.298C>T 17:g.47169996G>A CLEC5A_ENST00000551012 ENST00000551012.6 498 2054 LUAD-S01302 1765103 1669423 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV69397071 COSM396239 155944382 c.452C>A p.S151* Substitution - Nonsense 38 7:141930150-141930150 - - NEUTRAL .10346 Variant of unknown origin 22980975 surgery - NOS primary 64 ENSP00000446890.2:p.Ser151Ter ENST00000551012.6:c.452C>A 7:g.141930150G>T MAGED2_ENST00000375053 ENST00000375053.6 1821 16353 W31T 2745055 2603758 thyroid NS NS NS carcinoma NS NS NS y COSV54497716 COSM6427495 111848821 c.1363A>T p.K455* Substitution - Nonsense 38 23:54814752-54814752 + - PATHOGENIC .73217 Confirmed somatic variant 676 NS primary 60 ENSP00000364193.2:p.Lys455Ter ENST00000375053.6:c.1363A>T X:g.54814752A>T MAGED2_ENST00000375053 ENST00000375053.6 1821 16353 TCGA-FD-A6TC-01 2262697 2129681 urinary_tract bladder NS NS carcinoma NS NS NS y COSV99514333 COSM7660420 111850246 c.439C>T p.Q147* Substitution - Nonsense 38 23:54810115-54810115 + - .67727 Confirmed somatic variant 413 NS primary 79 ENSP00000364193.2:p.Gln147Ter ENST00000375053.6:c.439C>T X:g.54810115C>T ANKS6 ENST00000353234.4 2616 26724 TCGA-AX-A0J1-01 1783377 1687376 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV62049982 COSM1103150 110296695 c.877C>T p.R293* Substitution - Nonsense het 38 9:98784862-98784862 - - PATHOGENIC .93898 Reported in another cancer sample as somatic 419 fresh/frozen - NOS primary 80 ENSP00000297837.6:p.Arg293Ter ENST00000353234.4:c.877C>T 9:g.98784862G>A ANKS6 ENST00000353234.4 2616 26724 TCGA-AX-A05Z-01 1783365 1687364 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV62049044 COSM1103144 110296723 c.1621C>T p.R541* Substitution - Nonsense het 38 9:98774077-98774077 - - PATHOGENIC .79744 Reported in another cancer sample as somatic 419 fresh/frozen - NOS primary 37 ENSP00000297837.6:p.Arg541Ter ENST00000353234.4:c.1621C>T 9:g.98774077G>A ANKS6 ENST00000353234.4 2616 26724 PT22_1 2521277 2383620 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV62052168 COSM5902326 110297885 c.2038G>T p.E680* Substitution - Nonsense 38 9:98768185-98768185 - - PATHOGENIC .94135 Confirmed somatic variant 25759019 surgery fresh/frozen NS ENSP00000297837.6:p.Glu680Ter ENST00000353234.4:c.2038G>T 9:g.98768185C>A ANKS6 ENST00000353234.4 2616 26724 METMCC_627 2637739 2498112 skin head_neck NS NS carcinoma Merkel_cell_carcinoma NS NS y COSV62049756 COSM6442624 110299676 c.1408A>T p.K470* Substitution - Nonsense 38 9:98778385-98778385 - - PATHOGENIC .98762 Confirmed somatic variant 26238782 surgery fresh/frozen metastasis 76 ENSP00000297837.6:p.Lys470Ter ENST00000353234.4:c.1408A>T 9:g.98778385T>A NALCN ENST00000251127.10 5217 19082 TCGA-J2-8194-01 1914119 1802401 lung right_lower_lobe NS NS carcinoma adenocarcinoma NS NS y COSV51919996 COSM6138666 101153850 c.4548C>A p.C1516* Substitution - Nonsense 38 13:101065460-101065460 - - PATHOGENIC .95414 Variant of unknown origin 417 fresh/frozen - NOS primary 69 ENSP00000251127.6:p.Cys1516Ter ENST00000251127.10:c.4548C>A 13:g.101065460G>T NALCN ENST00000251127.10 5217 19082 2834136 2834136 2689920 skin mucosal female_genital_tract_(site_indeterminate) NS malignant_melanoma NS NS NS y COSV104568190 COSM9339846 101123952 c.1903G>T p.E635* Substitution - Nonsense 38 13:101144833-101144833 - - PATHOGENIC .94745 Variant of unknown origin 28296713 surgery - NOS primary 66 ENSP00000251127.6:p.Glu635Ter ENST00000251127.10:c.1903G>T 13:g.101144833C>A APBB1_ENST00000618005 ENST00000618005.4 1356 581 PD42114a 2894823 2749311 skin head_neck NS NS malignant_melanoma superficial_spreading NS NS y COSV105134938 COSM9915551 170064264 c.181G>T p.E61* Substitution - Nonsense 38 11:6403401-6403401 - - PATHOGENIC .70238 Confirmed somatic variant 33024263 surgery-fixed metastasis 54 ENSP00000484493.1:p.Glu61Ter ENST00000618005.4:c.181G>T 11:g.6403401C>A ARSG_ENST00000621439 ENST00000621439.4 1578 24102 TCGA-5M-AAT6-01 2457450 2320287 large_intestine colon NS NS carcinoma adenocarcinoma NS NS y COSV101477906 COSM7612241 168960360 c.547C>T p.Q183* Substitution - Nonsense 38 17:68351667-68351667 + - NEUTRAL .19925 Confirmed somatic variant 376 NS primary 40 ENSP00000480910.1:p.Gln183Ter ENST00000621439.4:c.547C>T 17:g.68351667C>T ARSG_ENST00000621439 ENST00000621439.4 1578 24102 PT13 2521265 2383608 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV71593541 COSM5896292 168959791 c.694C>T p.Q232* Substitution - Nonsense 38 17:68356794-68356794 + - PATHOGENIC .70612 Confirmed somatic variant 25759019 surgery fresh/frozen NS ENSP00000480910.1:p.Gln232Ter ENST00000621439.4:c.694C>T 17:g.68356794C>T ARSG_ENST00000621439 ENST00000621439.4 1578 24102 T2940 2296138 2161741 large_intestine colon transverse NS carcinoma adenocarcinoma NS NS y COSV71593239 COSM4663548 168959120 c.144G>A p.W48* Substitution - Nonsense 38 17:68307637-68307637 + - PATHOGENIC .94113 Confirmed somatic variant 25344691 NS NS 77.83 ENSP00000480910.1:p.Trp48Ter ENST00000621439.4:c.144G>A 17:g.68307637G>A SCMH1_ENST00000361191 ENST00000361191.9 1734 19003 SK-ES 2694029 2552948 skin trunk NS NS other seborrhoeic_keratosis pigmented NS y COSV58236620 COSM6905901 110274357 c.1501C>T p.R501* Substitution - Nonsense 38 1:41028691-41028691 - - PATHOGENIC .8732 Confirmed somatic variant 28410231 surgery fresh/frozen NS 49 ENSP00000354656.5:p.Arg501Ter ENST00000361191.9:c.1501C>T 1:g.41028691G>A PCSK5 ENST00000545128.5 5583 8747 CSCC-6-T 2292459 2158523 skin head_neck NS NS carcinoma squamous_cell_carcinoma NS NS y COSV70449746 COSM4498963 157729511 c.5314C>T p.Q1772* Substitution - Nonsense het 38 9:76358653-76358653 + - NEUTRAL .33748 Confirmed somatic variant 25303977 surgery fresh/frozen primary 64 ENSP00000446280.1:p.Gln1772Ter ENST00000545128.5:c.5314C>T 9:g.76358653C>T EFR3A_ENST00000519656 ENST00000519656.1 2358 28970 HCC-JP-474-T 2747006 2605709 liver NS NS NS other neoplasm NS NS y COSV54460924 COSM7202809 147056302 c.692G>A p.W231* Substitution - Nonsense 38 8:131959608-131959608 + - PATHOGENIC .99138 Confirmed somatic variant 323 NS primary 83 ENSP00000428086.1:p.Trp231Ter ENST00000519656.1:c.692G>A 8:g.131959608G>A CLEC5A_ENST00000551012 ENST00000551012.6 498 2054 5-VS019-T1 2869840 2724837 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV105829824 COSM9706067 155945773 c.156G>A p.W52* Substitution - Nonsense 38 7:141935934-141935934 - - Confirmed somatic variant 26950094 surgery fresh/frozen NS 71 ENSP00000446890.2:p.Trp52Ter ENST00000551012.6:c.156G>A 7:g.141935934C>T NALCN ENST00000251127.10 5217 19082 GBC_22 2907868 2762051 biliary_tract gallbladder NS NS carcinoma adenocarcinoma NS NS y COSV105861766 COSM10042624 101131991 c.712C>T p.Q238* Substitution - Nonsense 38 13:101345353-101345353 - - PATHOGENIC .98967 Variant of unknown origin 33563892 surgery-fixed NS 62 ENSP00000251127.6:p.Gln238Ter ENST00000251127.10:c.712C>T 13:g.101345353G>A NALCN ENST00000251127.10 5217 19082 TCGA-50-5930-01 1913992 1802274 lung right_lower_lobe NS NS carcinoma adenocarcinoma NS NS y COSV51925975 COSM6138659 101145469 c.3763G>T p.E1255* Substitution - Nonsense 38 13:101082811-101082811 - - PATHOGENIC .99752 Variant of unknown origin 417 fresh/frozen - NOS primary 47 ENSP00000251127.6:p.Glu1255Ter ENST00000251127.10:c.3763G>T 13:g.101082811C>A APBB1_ENST00000618005 ENST00000618005.4 1356 581 ILMN13 2816773 2673124 large_intestine colon ascending NS carcinoma adenocarcinoma NS NS y COSV54974409 COSM274002 170063230 c.166G>T p.E56* Substitution - Nonsense 38 11:6403499-6403499 - - PATHOGENIC .95976 Confirmed somatic variant 29937994 surgery fresh/frozen NS 54 ENSP00000484493.1:p.Glu56Ter ENST00000618005.4:c.166G>T 11:g.6403499C>A SCMH1_ENST00000361191 ENST00000361191.9 1734 19003 587356 1766796 1671116 large_intestine colon NS NS carcinoma adenocarcinoma NS NS y COSV58238908 COSM1224796 110277190 c.1474C>T p.R492* Substitution - Nonsense 38 1:41028718-41028718 - - PATHOGENIC .79928 Confirmed somatic variant 22895193 surgery fresh/frozen primary ENSP00000354656.5:p.Arg492Ter ENST00000361191.9:c.1474C>T 1:g.41028718G>A EFR3A_ENST00000519656 ENST00000519656.1 2358 28970 TCGA-DD-AACA-02 2339865 2204848 liver NS NS NS carcinoma hepatocellular_carcinoma NS NS y COSV99603056 COSM8398537 147054837 c.385C>T p.R129* Substitution - Nonsense 38 8:131953822-131953822 + - PATHOGENIC .96575 Confirmed somatic variant 628 NS recurrent 65 ENSP00000428086.1:p.Arg129Ter ENST00000519656.1:c.385C>T 8:g.131953822C>T CLEC5A_ENST00000551012 ENST00000551012.6 498 2054 EXTERN_MELA_20140924_058 2839477 2695243 skin lower_leg NS NS malignant_melanoma NS NS NS y COSV104712513 COSM9449156 155944056 c.357G>A p.W119* Substitution - Nonsense 38 7:141931746-141931746 - - PATHOGENIC .83063 Confirmed somatic variant 28467829 surgery fresh/frozen primary ENSP00000446890.2:p.Trp119Ter ENST00000551012.6:c.357G>A 7:g.141931746C>T TRIT1 ENST00000316891.9 1404 20286 8014753 1653078 1567865 pancreas NS NS NS carcinoma ductal_carcinoma NS NS y COSV57547096 COSM218445 104955768 c.334C>T p.R112* Substitution - Nonsense het 38 1:39854050-39854050 - - PATHOGENIC .93531 Reported in another cancer sample as somatic 328 fresh/frozen - NOS primary ENSP00000321810.5:p.Arg112Ter ENST00000316891.9:c.334C>T 1:g.39854050G>A TRIT1 ENST00000316891.9 1404 20286 T402 2658372 2518531 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV57549655 COSM6808927 104958198 c.1204C>T p.R402* Substitution - Nonsense 38 1:39844131-39844131 - - PATHOGENIC .95852 Confirmed somatic variant 27149842 NS NS 64.16 ENSP00000321810.5:p.Arg402Ter ENST00000316891.9:c.1204C>T 1:g.39844131G>A ANKS6 ENST00000353234.4 2616 26724 HCC171T 2120806 1995042 liver NS NS NS carcinoma NS NS NS y COSV62048715 COSM3663972 110300523 c.1910C>G p.S637* Substitution - Nonsense 38 9:98770958-98770958 - - PATHOGENIC .98014 Confirmed somatic variant 323 NS NS ENSP00000297837.6:p.Ser637Ter ENST00000353234.4:c.1910C>G 9:g.98770958G>C ANKS6 ENST00000353234.4 2616 26724 TCGA-AJ-A3EK-01 2198284 2066562 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV62049044 COSM1103144 110296723 c.1621C>T p.R541* Substitution - Nonsense 38 9:98774077-98774077 - - PATHOGENIC .79744 Confirmed somatic variant 419 NS NS 53 ENSP00000297837.6:p.Arg541Ter ENST00000353234.4:c.1621C>T 9:g.98774077G>A ANKS6 ENST00000353234.4 2616 26724 SCLC31_R_LN 2806514 2663233 lung NS NS NS carcinoma small_cell_carcinoma NS NS y COSV100782321 COSM7446913 110301427 c.901A>T p.K301* Substitution - Nonsense 38 9:98784838-98784838 - - PATHOGENIC .98448 Confirmed somatic variant 30224629 surgery - NOS metastasis 52 ENSP00000297837.6:p.Lys301Ter ENST00000353234.4:c.901A>T 9:g.98784838T>A NALCN ENST00000251127.10 5217 19082 SCMC_RM2 2355929 2219712 soft_tissue striated_muscle NS NS rhabdomyosarcoma alveolar NS NS y COSV51970390 COSM4989180 101138399 c.5188G>T p.E1730* Substitution - Nonsense 38 13:101055324-101055324 - - PATHOGENIC .98503 Variant of unknown origin 24793135 cell-line NS ENSP00000251127.6:p.Glu1730Ter ENST00000251127.10:c.5188G>T 13:g.101055324C>A CLEC5A_ENST00000551012 ENST00000551012.6 498 2054 TCGA-EE-A2GR-06 2121667 1995903 skin NS NS NS malignant_melanoma NS NS NS y COSV69396800 COSM2861704 155944564 c.166C>T p.Q56* Substitution - Nonsense 38 7:141935924-141935924 - - NEUTRAL .02875 Confirmed somatic variant 540 NS NS 78 ENSP00000446890.2:p.Gln56Ter ENST00000551012.6:c.166C>T 7:g.141935924G>A ANKS6 ENST00000353234.4 2616 26724 B1-CaA 2633641 2494037 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV62051079 COSM6229215 110296690 c.2473C>T p.Q825* Substitution - Nonsense 38 9:98745597-98745597 - - PATHOGENIC .93922 Confirmed somatic variant 646 NS primary 48 ENSP00000297837.6:p.Gln825Ter ENST00000353234.4:c.2473C>T 9:g.98745597G>A NALCN ENST00000251127.10 5217 19082 LIM1215 2301991 2167274 large_intestine colon right NS carcinoma adenocarcinoma NS NS y COSV51922520 COSM4212606 101120955 c.2524C>T p.R842* Substitution - Nonsense het 38 13:101107542-101107542 - - PATHOGENIC .86195 Reported in another cancer sample as somatic 24755471 cell-line NS ENSP00000251127.6:p.Arg842Ter ENST00000251127.10:c.2524C>T 13:g.101107542G>A NALCN ENST00000251127.10 5217 19082 S01728 1759242 1663990 lung NS NS NS carcinoma mixed_small_cell_carcinoma-adenocarcinoma NS NS y COSV51932690 COSM313109 101137189 c.888G>A p.W296* Substitution - Nonsense 38 13:101292278-101292278 - - PATHOGENIC .9761 Reported in another cancer sample as somatic 22941188 fresh/frozen - NOS NS 65 ENSP00000251127.6:p.Trp296Ter ENST00000251127.10:c.888G>A 13:g.101292278C>T APBB1_ENST00000618005 ENST00000618005.4 1356 581 TCGA-EY-A215-01 2198342 2066620 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV100193734 COSM8898223 170064705 c.91C>T p.Q31* Substitution - Nonsense 38 11:6403676-6403676 - - PATHOGENIC .79916 Confirmed somatic variant 419 NS NS 60 ENSP00000484493.1:p.Gln31Ter ENST00000618005.4:c.91C>T 11:g.6403676G>A APBB1_ENST00000618005 ENST00000618005.4 1356 581 TCGA-BD-A2L6-01 2386067 2248899 liver NS NS NS carcinoma hepatocellular_carcinoma NS NS y COSV100194223 COSM8425206 170066190 c.864C>G p.Y288* Substitution - Nonsense 38 11:6401020-6401020 - - PATHOGENIC .97066 Confirmed somatic variant 628 NS primary 69 ENSP00000484493.1:p.Tyr288Ter ENST00000618005.4:c.864C>G 11:g.6401020G>C CELSR1 ENST00000262738.7 9045 1850 Thyroid-CN-WZ050T 2635111 2495507 thyroid NS NS NS carcinoma NS NS NS y COSV53093902 COSM6390137 101657518 c.6535C>T p.Q2179* Substitution - Nonsense 38 22:46389310-46389310 - - NEUTRAL .41922 Confirmed somatic variant 676 NS primary 49 ENSP00000262738.3:p.Gln2179Ter ENST00000262738.7:c.6535C>T 22:g.46389310G>A CELSR1 ENST00000262738.7 9045 1850 OSCC-GB_01430111 2747059 2605762 upper_aerodigestive_tract mouth NS NS carcinoma NS NS NS y COSV53102272 COSM7328042 101658704 c.2574C>A p.Y858* Substitution - Nonsense 38 22:46534597-46534597 - - PATHOGENIC .94991 Confirmed somatic variant 539 NS primary 38 ENSP00000262738.3:p.Tyr858Ter ENST00000262738.7:c.2574C>A 22:g.46534597G>T CDC27_ENST00000066544 ENST00000066544.7 2475 1728 TCGA-BF-A1PX-01 2339467 2204450 skin NS NS NS malignant_melanoma NS NS NS y COSV99295133 COSM8039827 97381684 c.2395G>T p.G799* Substitution - Nonsense 38 17:47121015-47121015 - - PATHOGENIC .99532 Confirmed somatic variant 540 NS primary 56 ENSP00000066544.3:p.Gly799Ter ENST00000066544.7:c.2395G>T 17:g.47121015C>A NALCN ENST00000251127.10 5217 19082 LUAD-CHTN-MAD06-00668 1765262 1669582 lung NS NS NS carcinoma adenocarcinoma NS NS y COSV51947451 COSM358806 101139239 c.2700C>A p.C900* Substitution - Nonsense 38 13:101104587-101104587 - - PATHOGENIC .97769 Variant of unknown origin 22980975 surgery - NOS primary 72 ENSP00000251127.6:p.Cys900Ter ENST00000251127.10:c.2700C>A 13:g.101104587G>T NALCN ENST00000251127.10 5217 19082 TCGA-66-2786-01 1782877 1686876 lung NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV51972182 COSM696154 101136578 c.3109C>T p.Q1037* Substitution - Nonsense 38 13:101100837-101100837 - - PATHOGENIC .99093 Reported in another cancer sample as somatic 418 fresh/frozen - NOS primary 68 ENSP00000251127.6:p.Gln1037Ter ENST00000251127.10:c.3109C>T 13:g.101100837G>A NALCN ENST00000251127.10 5217 19082 KYSE70 2395008 2257839 oesophagus NS NS NS carcinoma squamous_cell_carcinoma NS NS n COSV51931682 COSM2047833 101107127 c.3541C>T p.R1181* Substitution - Nonsense 38 13:101083753-101083753 - - PATHOGENIC .81123 Reported in another cancer sample as somatic 24686850 cell-line NS ENSP00000251127.6:p.Arg1181Ter ENST00000251127.10:c.3541C>T 13:g.101083753G>A NALCN ENST00000251127.10 5217 19082 DLD1 2301972 2167255 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV51959804 COSM4622762 101129021 c.1148C>A p.S383* Substitution - Nonsense het 38 13:101258561-101258561 - - .53193 Reported in another cancer sample as somatic 24755471 cell-line NS ENSP00000251127.6:p.Ser383Ter ENST00000251127.10:c.1148C>A 13:g.101258561G>T SH3D21 ENST00000505871.6 1938 26236 ESCC_47 2479555 2342315 oesophagus NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV57176456 COSM5053448 141490778 c.349C>T p.R117* Substitution - Nonsense 38 1:36308431-36308431 + - PATHOGENIC .73417 Confirmed somatic variant 26873401 NS NS 79 ENSP00000421294.1:p.Arg117Ter ENST00000505871.6:c.349C>T 1:g.36308431C>T SH3D21 ENST00000505871.6 1938 26236 TCGA-FI-A2D0-01 2198302 2066580 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV99584194 COSM8891251 141493451 c.1204C>T p.Q402* Substitution - Nonsense 38 1:36320200-36320200 + - NEUTRAL .07851 Confirmed somatic variant 419 NS NS 55 ENSP00000421294.1:p.Gln402Ter ENST00000505871.6:c.1204C>T 1:g.36320200C>T CELSR1 ENST00000262738.7 9045 1850 sysucc-1370T 2456725 2319562 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV53086806 COSM4671446 101652641 c.3967C>T p.R1323* Substitution - Nonsense 38 22:46463923-46463923 - - .61158 Confirmed somatic variant 646 NS primary 78 ENSP00000262738.3:p.Arg1323Ter ENST00000262738.7:c.3967C>T 22:g.46463923G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 TCGA-XK-AAIW-01 2339713 2204696 prostate NS NS NS carcinoma adenocarcinoma NS NS y COSV99296468 COSM9084970 97398951 c.400G>T p.G134* Substitution - Nonsense 38 17:47158281-47158281 - - PATHOGENIC .98613 Confirmed somatic variant 435 NS primary 78 ENSP00000066544.3:p.Gly134Ter ENST00000066544.7:c.400G>T 17:g.47158281C>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 CHG-12-09247T 2634292 2494688 liver NS NS NS other neoplasm NS NS y COSV50392356 COSM4130273 97378805 c.635T>G p.L212* Substitution - Nonsense 38 17:47157120-47157120 - - PATHOGENIC .97409 Confirmed somatic variant 660 NS primary 48 ENSP00000066544.3:p.Leu212Ter ENST00000066544.7:c.635T>G 17:g.47157120A>C CDC27_ENST00000066544 ENST00000066544.7 2475 1728 CHG-14-11255T 2634330 2494726 liver NS NS NS other neoplasm NS NS y COSV50392356 COSM4130273 97378805 c.635T>G p.L212* Substitution - Nonsense 38 17:47157120-47157120 - - PATHOGENIC .97409 Confirmed somatic variant 660 NS primary 49 ENSP00000066544.3:p.Leu212Ter ENST00000066544.7:c.635T>G 17:g.47157120A>C EFR3A_ENST00000519656 ENST00000519656.1 2358 28970 TCGA-XK-AAIW-01 2339713 2204696 prostate NS NS NS carcinoma adenocarcinoma NS NS y COSV99602292 COSM7632029 147055827 c.373C>T p.R125* Substitution - Nonsense 38 8:131950083-131950083 + - PATHOGENIC .96531 Confirmed somatic variant 435 NS primary 78 ENSP00000428086.1:p.Arg125Ter ENST00000519656.1:c.373C>T 8:g.131950083C>T EFR3A_ENST00000519656 ENST00000519656.1 2358 28970 ESCC-083T 2185932 2054229 oesophagus NS NS NS carcinoma NS NS NS y COSV54458951 COSM3942525 147054546 c.898G>T p.E300* Substitution - Nonsense 38 8:131970490-131970490 + - PATHOGENIC .99508 Confirmed somatic variant 582 NS NS ENSP00000428086.1:p.Glu300Ter ENST00000519656.1:c.898G>T 8:g.131970490G>T CLEC5A_ENST00000551012 ENST00000551012.6 498 2054 TCGA-EE-A2M5-06 2121671 1995907 skin NS NS NS malignant_melanoma NS NS NS y COSV69396851 COSM3634372 155942982 c.286C>T p.Q96* Substitution - Nonsense 38 7:141931817-141931817 - - .6432 Confirmed somatic variant 540 NS NS 49 ENSP00000446890.2:p.Gln96Ter ENST00000551012.6:c.286C>T 7:g.141931817G>A TRIT1 ENST00000316891.9 1404 20286 ICGC_0034 1815735 1714906 pancreas NS NS NS carcinoma ductal_carcinoma NS NS y COSV57547096 COSM218445 104955768 c.334C>T p.R112* Substitution - Nonsense 38 1:39854050-39854050 - - PATHOGENIC .93531 Confirmed somatic variant 23103869 surgery fresh/frozen NS ENSP00000321810.5:p.Arg112Ter ENST00000316891.9:c.334C>T 1:g.39854050G>A TRIT1 ENST00000316891.9 1404 20286 TCGA-EY-A1G8-01 2198478 2066756 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV100381570 COSM9068373 104956976 c.1345G>T p.E449* Substitution - Nonsense 38 1:39841803-39841803 - - NEUTRAL .33503 Confirmed somatic variant 419 NS NS 83 ENSP00000321810.5:p.Glu449Ter ENST00000316891.9:c.1345G>T 1:g.39841803C>A NALCN ENST00000251127.10 5217 19082 HCC2998 2301977 2167260 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV51926907 COSM1677775 101107767 c.2401G>T p.E801* Substitution - Nonsense het 38 13:101107753-101107753 - - PATHOGENIC .99011 Reported in another cancer sample as somatic 24755471 cell-line NS ENSP00000251127.6:p.Glu801Ter ENST00000251127.10:c.2401G>T 13:g.101107753C>A APBB1_ENST00000618005 ENST00000618005.4 1356 581 TCGA-AA-A00N-01 1651102 1565889 large_intestine caecum NS NS carcinoma adenocarcinoma NS NS y COSV54974409 COSM274002 170063230 c.166G>T p.E56* Substitution - Nonsense 38 11:6403499-6403499 - - PATHOGENIC .95976 Confirmed somatic variant 22810696 376 NS NS 75 ENSP00000484493.1:p.Glu56Ter ENST00000618005.4:c.166G>T 11:g.6403499C>A SH3D21 ENST00000505871.6 1938 26236 TCGA-EY-A1GQ-01 2198456 2066734 endometrium NS NS NS carcinoma endometrioid_carcinoma NS NS y COSV100454020 COSM8865825 141491121 c.30G>A p.W10* Substitution - Nonsense 38 1:36307534-36307534 + - PATHOGENIC .96192 Confirmed somatic variant 419 NS NS 76 ENSP00000421294.1:p.Trp10Ter ENST00000505871.6:c.30G>A 1:g.36307534G>A CELSR1 ENST00000262738.7 9045 1850 2-2 2746097 2604800 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV53091804 COSM7279736 101656264 c.6061C>T p.Q2021* Substitution - Nonsense 38 22:46391720-46391720 - - PATHOGENIC .98284 Confirmed somatic variant 646 NS primary 73 ENSP00000262738.3:p.Gln2021Ter ENST00000262738.7:c.6061C>T 22:g.46391720G>A CELSR1 ENST00000262738.7 9045 1850 TCGA-CM-5341-01 1651213 1566000 large_intestine colon sigmoid NS carcinoma adenocarcinoma NS NS y COSV53083739 COSM1416890 101653626 c.8551A>T p.K2851* Substitution - Nonsense 38 22:46365234-46365234 - - PATHOGENIC .99297 Confirmed somatic variant 376 NS NS 82 ENSP00000262738.3:p.Lys2851Ter ENST00000262738.7:c.8551A>T 22:g.46365234T>A CELSR1 ENST00000262738.7 9045 1850 YUCLAT 2013590 1896222 skin NS NS NS malignant_melanoma NS NS NS y COSV53090611 COSM1714491 101659979 c.5278G>T p.E1760* Substitution - Nonsense het 38 22:46399851-46399851 - - PATHOGENIC .90205 Confirmed somatic variant 22842228 NS NS ENSP00000262738.3:p.Glu1760Ter ENST00000262738.7:c.5278G>T 22:g.46399851C>A SCMH1_ENST00000361191 ENST00000361191.9 1734 19003 T2767 2658616 2518775 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV58239451 COSM3934731 110270714 c.430C>T p.R144* Substitution - Nonsense 38 1:41113385-41113385 - - PATHOGENIC .91338 Confirmed somatic variant 27149842 NS NS 75 ENSP00000354656.5:p.Arg144Ter ENST00000361191.9:c.430C>T 1:g.41113385G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 PT21_1 2521275 2383618 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV50565426 COSM1284027 97377562 c.174T>A p.Y58* Substitution - Nonsense 38 17:47171994-47171994 - - PATHOGENIC .9659 Confirmed somatic variant 25759019 surgery fresh/frozen NS ENSP00000066544.3:p.Tyr58Ter ENST00000066544.7:c.174T>A 17:g.47171994A>T EFR3A_ENST00000519656 ENST00000519656.1 2358 28970 PD13298a 1832157 1727942 breast NS NS NS carcinoma ductal_carcinoma NS NS y COSV54454006 COSM1096152 147058844 c.1381C>T p.R461* Substitution - Nonsense 38 8:131979009-131979009 + - .52341 Confirmed somatic variant 652 NS NS ENSP00000428086.1:p.Arg461Ter ENST00000519656.1:c.1381C>T 8:g.131979009C>T EFR3A_ENST00000519656 ENST00000519656.1 2358 28970 TCGA-W3-A825-06 2339744 2204727 skin NS NS NS malignant_melanoma NS NS NS y COSV54454006 COSM1096152 147058844 c.1381C>T p.R461* Substitution - Nonsense 38 8:131979009-131979009 + - .52341 Confirmed somatic variant 540 NS NS 60 ENSP00000428086.1:p.Arg461Ter ENST00000519656.1:c.1381C>T 8:g.131979009C>T CLEC5A_ENST00000551012 ENST00000551012.6 498 2054 PT47 2521304 2383647 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV69396851 COSM3634372 155942982 c.286C>T p.Q96* Substitution - Nonsense 38 7:141931817-141931817 - - .6432 Confirmed somatic variant 25759019 surgery fresh/frozen NS ENSP00000446890.2:p.Gln96Ter ENST00000551012.6:c.286C>T 7:g.141931817G>A CLEC5A_ENST00000551012 ENST00000551012.6 498 2054 5-VS037-T2 2869863 2724860 skin NS NS NS carcinoma basal_cell_carcinoma NS NS y COSV69396851 COSM3634372 155942982 c.286C>T p.Q96* Substitution - Nonsense 38 7:141931817-141931817 - - .6432 Confirmed somatic variant 26950094 surgery fresh/frozen NS 83 ENSP00000446890.2:p.Gln96Ter ENST00000551012.6:c.286C>T 7:g.141931817G>A TRIT1 ENST00000316891.9 1404 20286 8066067 2121237 1995473 pancreas NS NS NS carcinoma ductal_carcinoma NS NS y COSV57547096 COSM218445 104955768 c.334C>T p.R112* Substitution - Nonsense 38 1:39854050-39854050 - - PATHOGENIC .93531 Confirmed somatic variant 328 NS NS ENSP00000321810.5:p.Arg112Ter ENST00000316891.9:c.334C>T 1:g.39854050G>A TRIT1 ENST00000316891.9 1404 20286 T_CCA_SG_18 2688090 2547072 biliary_tract bile_duct NS NS carcinoma NS NS NS y COSV57550275 COSM6859149 104955965 c.979C>T p.R327* Substitution - Nonsense 38 1:39847247-39847247 - - PATHOGENIC .9515 Confirmed somatic variant 653 NS primary 71 ENSP00000321810.5:p.Arg327Ter ENST00000316891.9:c.979C>T 1:g.39847247G>A NALCN ENST00000251127.10 5217 19082 S00837 1759200 1663948 lung NS NS NS carcinoma small_cell_carcinoma NS NS y COSV51917306 COSM313106 101115239 c.1264G>T p.E422* Substitution - Nonsense 38 13:101258445-101258445 - - NEUTRAL .35435 Reported in another cancer sample as somatic 22941188 fresh/frozen - NOS NS 70 ENSP00000251127.6:p.Glu422Ter ENST00000251127.10:c.1264G>T 13:g.101258445C>A SH3D21 ENST00000505871.6 1938 26236 TCGA-C8-A26Y-01 2187789 2056067 breast NS NS NS carcinoma NS NS NS y COSV99584288 COSM7690765 141491830 c.1723G>T p.E575* Substitution - Nonsense 38 1:36320719-36320719 + - .52513 Confirmed somatic variant 414 NS NS 90 ENSP00000421294.1:p.Glu575Ter ENST00000505871.6:c.1723G>T 1:g.36320719G>T SH3D21 ENST00000505871.6 1938 26236 EGC3 2404155 2267007 stomach NS NS NS carcinoma mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable NS NS y COSV57176456 COSM5053448 141490778 c.349C>T p.R117* Substitution - Nonsense 38 1:36308431-36308431 + - PATHOGENIC .73417 Confirmed somatic variant 25042771 surgery fresh/frozen primary 66 ENSP00000421294.1:p.Arg117Ter ENST00000505871.6:c.349C>T 1:g.36308431C>T CELSR1 ENST00000262738.7 9045 1850 TCGA-VS-A9UV-01 2386207 2249039 cervix NS NS NS carcinoma squamous_cell_carcinoma NS NS y COSV99419456 COSM8648334 101670127 c.6262C>T p.R2088* Substitution - Nonsense 38 22:46390475-46390475 - - PATHOGENIC .93717 Confirmed somatic variant 415 NS primary 74 ENSP00000262738.3:p.Arg2088Ter ENST00000262738.7:c.6262C>T 22:g.46390475G>A CELSR1 ENST00000262738.7 9045 1850 TCGA-HT-8564-01 2194363 2062641 central_nervous_system brain NS NS glioma NS NS NS y COSV53083812 COSM3973020 101659539 c.7216C>T p.R2406* Substitution - Nonsense 38 22:46380828-46380828 - - PATHOGENIC .87878 Confirmed somatic variant 545 NS NS 47 ENSP00000262738.3:p.Arg2406Ter ENST00000262738.7:c.7216C>T 22:g.46380828G>A CELSR1 ENST00000262738.7 9045 1850 TCGA-IB-A7M4-01 2262822 2129806 pancreas NS NS NS carcinoma ductal_carcinoma NS NS y COSV99419117 COSM8432886 101662668 c.7057G>T p.E2353* Substitution - Nonsense 38 22:46381877-46381877 - - PATHOGENIC .98494 Confirmed somatic variant 629 NS primary 81 ENSP00000262738.3:p.Glu2353Ter ENST00000262738.7:c.7057G>T 22:g.46381877C>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 T471 2658520 2518679 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV50708521 COSM6624215 97387272 c.1018C>T p.R340* Substitution - Nonsense 38 17:47151858-47151858 - - PATHOGENIC .93037 Confirmed somatic variant 27149842 NS NS 68 ENSP00000066544.3:p.Arg340Ter ENST00000066544.7:c.1018C>T 17:g.47151858G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 PD3851a 1230731 1142534 breast NS NS NS carcinoma ductal_carcinoma micropapillary NS y COSV50435001 COSM219156 97377153 c.1999C>T p.Q667* Substitution - Nonsense 38 17:47132289-47132289 - - PATHOGENIC .98753 Confirmed somatic variant 22722201 385 NS primary 61 ENSP00000066544.3:p.Gln667Ter ENST00000066544.7:c.1999C>T 17:g.47132289G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 PD3851a 1230731 1142534 breast NS NS NS carcinoma ductal_carcinoma micropapillary NS y COSV50435001 COSM219156 97377153 c.1999C>T p.Q667* Substitution - Nonsense 38 17:47132289-47132289 - - PATHOGENIC .98753 Confirmed somatic variant 652 NS primary 61 ENSP00000066544.3:p.Gln667Ter ENST00000066544.7:c.1999C>T 17:g.47132289G>A CDC27_ENST00000066544 ENST00000066544.7 2475 1728 PD3851a 1230731 1142534 breast NS NS NS carcinoma ductal_carcinoma micropapillary NS y COSV50435001 COSM219156 97377153 c.1999C>T p.Q667* Substitution - Nonsense 38 17:47132289-47132289 - - PATHOGENIC .98753 Confirmed somatic variant 385 NS primary 61 ENSP00000066544.3:p.Gln667Ter ENST00000066544.7:c.1999C>T 17:g.47132289G>A CLEC5A_ENST00000551012 ENST00000551012.6 498 2054 EXTERN_MELA_20140505_063 2839306 2695072 skin shoulder NS NS malignant_melanoma NS NS NS y COSV69396851 COSM3634372 155942982 c.286C>T p.Q96* Substitution - Nonsense 38 7:141931817-141931817 - - .6432 Confirmed somatic variant 28467829 surgery fresh/frozen metastasis ENSP00000446890.2:p.Gln96Ter ENST00000551012.6:c.286C>T 7:g.141931817G>A TRIT1 ENST00000316891.9 1404 20286 TCGA-EE-A2GT-06 2121669 1995905 skin NS NS NS malignant_melanoma NS NS NS y COSV57549291 COSM3489499 104957926 c.1114C>T p.Q372* Substitution - Nonsense 38 1:39844533-39844533 - - PATHOGENIC .9872 Confirmed somatic variant 540 NS NS 77 ENSP00000321810.5:p.Gln372Ter ENST00000316891.9:c.1114C>T 1:g.39844533G>A TRIT1 ENST00000316891.9 1404 20286 8057501 2121188 1995424 pancreas NS NS NS carcinoma ductal_carcinoma NS NS y COSV57547096 COSM218445 104955768 c.334C>T p.R112* Substitution - Nonsense 38 1:39854050-39854050 - - PATHOGENIC .93531 Confirmed somatic variant 328 NS NS ENSP00000321810.5:p.Arg112Ter ENST00000316891.9:c.334C>T 1:g.39854050G>A TRIT1 ENST00000316891.9 1404 20286 Pat_59_B 2492899 2355513 NS NS NS NS malignant_melanoma NS NS NS y COSV57549081 COSM5846664 104958572 c.568C>T p.Q190* Substitution - Nonsense 38 1:39850254-39850254 - - PATHOGENIC .99264 Confirmed somatic variant 24265153 surgery-fixed NS 48 ENSP00000321810.5:p.Gln190Ter ENST00000316891.9:c.568C>T 1:g.39850254G>A TRIT1 ENST00000316891.9 1404 20286 8014573 2121094 1995330 pancreas NS NS NS carcinoma ductal_carcinoma NS NS y COSV57547096 COSM218445 104955768 c.334C>T p.R112* Substitution - Nonsense 38 1:39854050-39854050 - - PATHOGENIC .93531 Confirmed somatic variant 328 NS NS ENSP00000321810.5:p.Arg112Ter ENST00000316891.9:c.334C>T 1:g.39854050G>A ANKS6 ENST00000353234.4 2616 26724 HUB-02-C2-098 2607142 2466854 large_intestine NS NS NS carcinoma adenocarcinoma NS NS y COSV62049982 COSM1103150 110296695 c.877C>T p.R293* Substitution - Nonsense 38 9:98784862-98784862 - - PATHOGENIC .93898 Confirmed somatic variant 670 organoid culture NS ENSP00000297837.6:p.Arg293Ter ENST00000353234.4:c.877C>T 9:g.98784862G>A