Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 1 59127114 59127114 + Missense_Mutation SNP G G T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 g.chr1:59127114G>T c.2234C>A c.(2233-2235)aCa>aAa p.T745K BLCA 1 59134703 59134703 + Missense_Mutation SNP C C T TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr1:59134703C>T c.1669G>A c.(1669-1671)Gat>Aat p.D557N BLCA 1 59142623 59142623 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr1:59142623C>T c.1365G>A c.(1363-1365)ttG>ttA p.L455L BLCA 1 59142669 59142669 + Missense_Mutation SNP C C T TCGA-XF-AAMF-01A-21D-A42E-08 TCGA-XF-AAMF-10A-01D-A42H-08 g.chr1:59142669C>T c.1319G>A c.(1318-1320)tGt>tAt p.C440Y BLCA 1 59147556 59147556 + Missense_Mutation SNP T T A TCGA-FD-A6TH-01A-11D-A32B-08 TCGA-FD-A6TH-10A-01D-A329-08 g.chr1:59147556T>A c.1160A>T c.(1159-1161)cAa>cTa p.Q387L BLCA 1 59147751 59147751 + Missense_Mutation SNP T T A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 g.chr1:59147751T>A c.965A>T c.(964-966)aAc>aTc p.N322I BLCA 1 59148161 59148161 + Missense_Mutation SNP T T G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 g.chr1:59148161T>G c.555A>C c.(553-555)caA>caC p.Q185H BLCA 1 59156029 59156029 + Missense_Mutation SNP A A T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 g.chr1:59156029A>T c.279T>A c.(277-279)gaT>gaA p.D93E BLCA 1 59165715 59165715 + Missense_Mutation SNP C C T TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr1:59165715C>T c.10G>A c.(10-12)Gaa>Aaa p.E4K BRCA 1 59127079 59127079 + Splice_Site SNP T T C TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 g.chr1:59127079T>C c.2269A>G c.(2269-2271)Agc>Ggc p.S757G BRCA 1 59127121 59127121 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 g.chr1:59127121C>T c.2227G>A c.(2227-2229)Gaa>Aaa p.E743K BRCA 1 59142677 59142677 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr1:59142677C>T c.1311G>A c.(1309-1311)ctG>ctA p.L437L BRCA 1 59156023 59156023 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr1:59156023delT c.285delA c.(283-285)aaafs p.K95fs CESC 1 59147737 59147737 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 g.chr1:59147737C>G c.979G>C c.(979-981)Gat>Cat p.D327H CESC 1 59165694 59165694 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chr1:59165694C>T c.31G>A c.(31-33)Gaa>Aaa p.E11K COAD 1 59127116 59127116 + Missense_Mutation SNP C C A TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr1:59127116C>A c.2232G>T c.(2230-2232)aaG>aaT p.K744N COAD 1 59139252 59139252 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr1:59139252G>A c.1565C>T c.(1564-1566)aCg>aTg p.T522M COAD 1 59139308 59139308 + Silent SNP A A G TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr1:59139308A>G c.1509T>C c.(1507-1509)cgT>cgC p.R503R COAD 1 59147759 59147759 + Silent SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:59147759C>T c.957G>A c.(955-957)ttG>ttA p.L319L COAD 1 59147795 59147795 + Frame_Shift_Del DEL T T - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr1:59147795delT c.921delA c.(919-921)aaafs p.K307fs COAD 1 59148049 59148051 + In_Frame_Del DEL CTT CTT - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:59148049_59148051delCTT c.665_667delAAG c.(664-669)gaagta>gta p.E222del COADREAD 1 59127116 59127116 + Missense_Mutation SNP C C A TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr1:59127116C>A c.2232G>T c.(2230-2232)aaG>aaT p.K744N COADREAD 1 59139252 59139252 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr1:59139252G>A c.1565C>T c.(1564-1566)aCg>aTg p.T522M COADREAD 1 59139308 59139308 + Silent SNP A A G TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr1:59139308A>G c.1509T>C c.(1507-1509)cgT>cgC p.R503R COADREAD 1 59142610 59142610 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:59142610T>G c.1378A>C c.(1378-1380)Aat>Cat p.N460H COADREAD 1 59147759 59147759 + Silent SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:59147759C>T c.957G>A c.(955-957)ttG>ttA p.L319L COADREAD 1 59147795 59147795 + Frame_Shift_Del DEL T T - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr1:59147795delT c.921delA c.(919-921)aaafs p.K307fs COADREAD 1 59148049 59148051 + In_Frame_Del DEL CTT CTT - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:59148049_59148051delCTT c.665_667delAAG c.(664-669)gaagta>gta p.E222del COADREAD 1 59156062 59156062 + Silent SNP C C T TCGA-AG-4005-01A-01W-1073-09 TCGA-AG-4005-10A-01W-1073-09 g.chr1:59156062C>T c.246G>A c.(244-246)ccG>ccA p.P82P COADREAD 1 59165712 59165712 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:59165712C>A c.13G>T c.(13-15)Gag>Tag p.E5* DLBC 1 59126851 59126851 + Silent SNP A A G TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr1:59126851A>G c.2319T>C c.(2317-2319)tgT>tgC p.C773C ESCA 1 59131214 59131214 + Silent SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 g.chr1:59131214G>T c.2121C>A c.(2119-2121)acC>acA p.T707T ESCA 1 59137558 59137558 + Missense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 g.chr1:59137558G>A c.1645C>T c.(1645-1647)Cca>Tca p.P549S GBM 1 59132729 59132729 + Missense_Mutation SNP T T C TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 g.chr1:59132729T>C c.2012A>G c.(2011-2013)gAc>gGc p.D671G GBM 1 59141202 59141202 + Missense_Mutation SNP C C T TCGA-26-5132-01A-01D-1486-08 TCGA-26-5132-10A-01D-1486-08 g.chr1:59141202C>T c.1441G>A c.(1441-1443)Gac>Aac p.D481N GBMLGG 1 59132729 59132729 + Missense_Mutation SNP T T C TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 g.chr1:59132729T>C c.2012A>G c.(2011-2013)gAc>gGc p.D671G GBMLGG 1 59137620 59137620 + Missense_Mutation SNP G G T TCGA-S9-A6WG-01A-11D-A33T-08 TCGA-S9-A6WG-10A-01D-A33W-08 g.chr1:59137620G>T c.1583C>A c.(1582-1584)gCt>gAt p.A528D GBMLGG 1 59141202 59141202 + Missense_Mutation SNP C C T TCGA-26-5132-01A-01D-1486-08 TCGA-26-5132-10A-01D-1486-08 g.chr1:59141202C>T c.1441G>A c.(1441-1443)Gac>Aac p.D481N GBMLGG 1 59147880 59147880 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:59147880C>T c.836G>A c.(835-837)tGt>tAt p.C279Y HNSC 1 59131245 59131245 + Missense_Mutation SNP C C T TCGA-IQ-A61E-01A-22D-A30E-08 TCGA-IQ-A61E-10A-01D-A30H-08 g.chr1:59131245C>T c.2090G>A c.(2089-2091)cGa>cAa p.R697Q HNSC 1 59131251 59131251 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 g.chr1:59131251T>C c.2084A>G c.(2083-2085)tAt>tGt p.Y695C HNSC 1 59147716 59147716 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 g.chr1:59147716C>T c.1000G>A c.(1000-1002)Gat>Aat p.D334N HNSC 1 59147830 59147830 + Silent SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 g.chr1:59147830G>A c.886C>T c.(886-888)Ctg>Ttg p.L296L HNSC 1 59148058 59148058 + Missense_Mutation SNP C C T TCGA-CQ-5326-01A-01D-1870-08 TCGA-CQ-5326-10A-01D-1870-08 g.chr1:59148058C>T c.658G>A c.(658-660)Gat>Aat p.D220N KIPAN 1 59125680 59125680 + Silent SNP A A G TCGA-BQ-7053-01A-11D-1961-08 TCGA-BQ-7053-11A-01D-1961-08 g.chr1:59125680A>G c.2476T>C c.(2476-2478)Ttg>Ctg p.L826L KIPAN 1 59125681 59125681 + Missense_Mutation SNP T T A TCGA-BP-5007-01A-01D-1462-08 TCGA-BP-5007-11A-01D-1462-08 g.chr1:59125681T>A c.2475A>T c.(2473-2475)gaA>gaT p.E825D KIPAN 1 59127169 59127169 + Missense_Mutation SNP A A G TCGA-UZ-A9PO-01A-11D-A382-10 TCGA-UZ-A9PO-10A-01D-A385-10 g.chr1:59127169A>G c.2179T>C c.(2179-2181)Ttt>Ctt p.F727L KIPAN 1 59165666 59165666 + Missense_Mutation SNP G G T TCGA-UZ-A9PR-01A-11D-A42J-10 TCGA-UZ-A9PR-10A-01D-A42M-10 g.chr1:59165666G>T c.59C>A c.(58-60)gCa>gAa p.A20E KIRC 1 59125681 59125681 + Missense_Mutation SNP T T A TCGA-BP-5007-01A-01D-1462-08 TCGA-BP-5007-11A-01D-1462-08 g.chr1:59125681T>A c.2475A>T c.(2473-2475)gaA>gaT p.E825D KIRP 1 59125680 59125680 + Silent SNP A A G TCGA-BQ-7053-01A-11D-1961-08 TCGA-BQ-7053-11A-01D-1961-08 g.chr1:59125680A>G c.2476T>C c.(2476-2478)Ttg>Ctg p.L826L KIRP 1 59127169 59127169 + Missense_Mutation SNP A A G TCGA-UZ-A9PO-01A-11D-A382-10 TCGA-UZ-A9PO-10A-01D-A385-10 g.chr1:59127169A>G c.2179T>C c.(2179-2181)Ttt>Ctt p.F727L KIRP 1 59165666 59165666 + Missense_Mutation SNP G G T TCGA-UZ-A9PR-01A-11D-A42J-10 TCGA-UZ-A9PR-10A-01D-A42M-10 g.chr1:59165666G>T c.59C>A c.(58-60)gCa>gAa p.A20E LGG 1 59137620 59137620 + Missense_Mutation SNP G G T TCGA-S9-A6WG-01A-11D-A33T-08 TCGA-S9-A6WG-10A-01D-A33W-08 g.chr1:59137620G>T c.1583C>A c.(1582-1584)gCt>gAt p.A528D LGG 1 59147880 59147880 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:59147880C>T c.836G>A c.(835-837)tGt>tAt p.C279Y LIHC 1 59137586 59137586 + Frame_Shift_Del DEL T T - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr1:59137586delT c.1617delA c.(1615-1617)aaafs p.K539fs LIHC 1 59158557 59158557 + Missense_Mutation SNP A A G TCGA-DD-AAE7-01A-11D-A40R-10 TCGA-DD-AAE7-10A-01D-A40U-10 g.chr1:59158557A>G c.194T>C c.(193-195)aTt>aCt p.I65T LUAD 1 59133518 59133519 + Splice_Site DEL CT CT - TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 g.chr1:59133518_59133519delCT c.1842_1843delAG c.(1840-1845)gaagtc>gatc p.EV614fs LUAD 1 59139252 59139252 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 g.chr1:59139252G>A c.1565C>T c.(1564-1566)aCg>aTg p.T522M LUAD 1 59148140 59148140 + Silent SNP C C T TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr1:59148140C>T c.576G>A c.(574-576)ggG>ggA p.G192G LUAD 1 59165712 59165712 + Missense_Mutation SNP C C G TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 g.chr1:59165712C>G c.13G>C c.(13-15)Gag>Cag p.E5Q LUSC 1 59133586 59133586 + Missense_Mutation SNP T T A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 g.chr1:59133586T>A c.1775A>T c.(1774-1776)cAt>cTt p.H592L LUSC 1 59147875 59147875 + Missense_Mutation SNP G G C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 g.chr1:59147875G>C c.841C>G c.(841-843)Caa>Gaa p.Q281E PCPG 1 59147514 59147514 + Missense_Mutation SNP C C T TCGA-W2-A7HC-01A-11D-A35I-08 TCGA-W2-A7HC-10C-01D-A35G-08 g.chr1:59147514C>T c.1202G>A c.(1201-1203)cGc>cAc p.R401H PRAD 1 59126842 59126842 + Splice_Site SNP T T G TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 g.chr1:59126842T>G c.2328A>C c.(2326-2328)aaA>aaC p.K776N PRAD 1 59147849 59147849 + Silent SNP A A T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 g.chr1:59147849A>T c.867T>A c.(865-867)ctT>ctA p.L289L READ 1 59142610 59142610 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:59142610T>G c.1378A>C c.(1378-1380)Aat>Cat p.N460H READ 1 59156062 59156062 + Silent SNP C C T TCGA-AG-4005-01A-01W-1073-09 TCGA-AG-4005-10A-01W-1073-09 g.chr1:59156062C>T c.246G>A c.(244-246)ccG>ccA p.P82P READ 1 59165712 59165712 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:59165712C>A c.13G>T c.(13-15)Gag>Tag p.E5* SKCM 1 59125680 59125680 + Missense_Mutation SNP A A T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr1:59125680A>T c.2476T>A c.(2476-2478)Ttg>Atg p.L826M SKCM 1 59126874 59126874 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:59126874G>A c.2296C>T c.(2296-2298)Cgc>Tgc p.R766C SKCM 1 59126878 59126878 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr1:59126878G>A c.2292C>T c.(2290-2292)atC>atT p.I764I SKCM 1 59126880 59126880 + Missense_Mutation SNP T T C TCGA-EB-A5KH-06A-11D-A27K-08 TCGA-EB-A5KH-10A-01D-A27N-08 g.chr1:59126880T>C c.2290A>G c.(2290-2292)Atc>Gtc p.I764V SKCM 1 59131237 59131237 + Missense_Mutation SNP G G A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr1:59131237G>A c.2098C>T c.(2098-2100)Ccc>Tcc p.P700S SKCM 1 59132748 59132748 + Missense_Mutation SNP G G A TCGA-ER-A19M-06A-61D-A23B-08 TCGA-ER-A19M-10A-01D-A23B-08 g.chr1:59132748G>A c.1993C>T c.(1993-1995)Cct>Tct p.P665S SKCM 1 59142729 59142729 + Splice_Site SNP C C A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 g.chr1:59142729C>A c.e9-1 SKCM 1 59147533 59147533 + Missense_Mutation SNP G G A TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr1:59147533G>A c.1183C>T c.(1183-1185)Cct>Tct p.P395S SKCM 1 59147776 59147776 + Nonsense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr1:59147776G>A c.940C>T c.(940-942)Cag>Tag p.Q314* SKCM 1 59147793 59147793 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr1:59147793G>A c.923C>T c.(922-924)tCa>tTa p.S308L SKCM 1 59147987 59147987 + Silent SNP A A G TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr1:59147987A>G c.729T>C c.(727-729)agT>agC p.S243S SKCM 1 59148172 59148172 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 g.chr1:59148172G>A c.544C>T c.(544-546)Cat>Tat p.H182Y

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 59133578 59133578 single base substitution T C exon_variant BLCA-CN 1 59133578 59133578 single base substitution T C missense_variant M595V 1783A>G BLCA-CN 1 59133579 59133579 single base substitution A G exon_variant BLCA-CN 1 59133579 59133579 single base substitution A G synonymous_variant S594S 1782T>C BLCA-US 1 59127114 59127114 single base substitution G T exon_variant BLCA-US 1 59127114 59127114 single base substitution G T missense_variant T745K 2234C>A BLCA-US 1 59142623 59142623 single base substitution C T exon_variant BLCA-US 1 59142623 59142623 single base substitution C T synonymous_variant L455L 1365G>A BLCA-US 1 59156029 59156029 single base substitution A T downstream_gene_variant BLCA-US 1 59156029 59156029 single base substitution A T exon_variant BLCA-US 1 59156029 59156029 single base substitution A T missense_variant D93E 279T>A BLCA-US 1 59156029 59156029 single base substitution A T upstream_gene_variant BOCA-FR 1 59139223 59139223 single base substitution C G downstream_gene_variant BOCA-FR 1 59139223 59139223 single base substitution C G intron_variant BRCA-EU 1 59115430 59115430 single base substitution C T downstream_gene_variant BRCA-EU 1 59117232 59117232 single base substitution T G downstream_gene_variant BRCA-EU 1 59118064 59118064 single base substitution G A downstream_gene_variant BRCA-EU 1 59118253 59118253 single base substitution T A downstream_gene_variant BRCA-EU 1 59120318 59120318 single base substitution C G downstream_gene_variant BRCA-EU 1 59120617 59120627 deletion of <=200bp GGCATATTTAA - 3_prime_UTR_variant BRCA-EU 1 59120617 59120627 deletion of <=200bp GGCATATTTAA - downstream_gene_variant BRCA-EU 1 59120617 59120627 deletion of <=200bp GGCATATTTAA - exon_variant BRCA-EU 1 59120627 59120627 single base substitution A T 3_prime_UTR_variant BRCA-EU 1 59120627 59120627 single base substitution A T downstream_gene_variant BRCA-EU 1 59120627 59120627 single base substitution A T exon_variant BRCA-EU 1 59121871 59121881 deletion of <=200bp TGCTTACAGTC - 3_prime_UTR_variant BRCA-EU 1 59121871 59121881 deletion of <=200bp TGCTTACAGTC - downstream_gene_variant BRCA-EU 1 59121871 59121881 deletion of <=200bp TGCTTACAGTC - exon_variant BRCA-EU 1 59122140 59122140 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 59122140 59122140 single base substitution C T downstream_gene_variant BRCA-EU 1 59122140 59122140 single base substitution C T exon_variant BRCA-EU 1 59122625 59122625 single base substitution A G 3_prime_UTR_variant BRCA-EU 1 59122625 59122625 single base substitution A G downstream_gene_variant BRCA-EU 1 59122625 59122625 single base substitution A G exon_variant BRCA-EU 1 59124674 59124674 single base substitution A C 3_prime_UTR_variant BRCA-EU 1 59124674 59124674 single base substitution A C downstream_gene_variant BRCA-EU 1 59124674 59124674 single base substitution A C exon_variant BRCA-EU 1 59124981 59124981 single base substitution T A 3_prime_UTR_variant BRCA-EU 1 59124981 59124981 single base substitution T A exon_variant BRCA-EU 1 59126100 59126100 single base substitution G A intron_variant BRCA-EU 1 59126935 59126935 single base substitution G A intron_variant BRCA-EU 1 59127476 59127476 single base substitution C T intron_variant BRCA-EU 1 59127593 59127593 insertion of <=200bp - AT intron_variant BRCA-EU 1 59127995 59127995 single base substitution T C intron_variant BRCA-EU 1 59129009 59129009 single base substitution G C intron_variant BRCA-EU 1 59130655 59130655 single base substitution A T intron_variant BRCA-EU 1 59131554 59131554 single base substitution C T intron_variant BRCA-EU 1 59131992 59131992 single base substitution C T intron_variant BRCA-EU 1 59132040 59132040 single base substitution T A intron_variant BRCA-EU 1 59133023 59133023 single base substitution G A intron_variant BRCA-EU 1 59133999 59133999 single base substitution T C intron_variant BRCA-EU 1 59134993 59134993 single base substitution C A intron_variant BRCA-EU 1 59135048 59135048 deletion of <=200bp A - intron_variant BRCA-EU 1 59135079 59135079 single base substitution C G intron_variant BRCA-EU 1 59135336 59135336 deletion of <=200bp A - intron_variant BRCA-EU 1 59135340 59135340 single base substitution G T intron_variant BRCA-EU 1 59136197 59136197 single base substitution A C intron_variant BRCA-EU 1 59136652 59136652 single base substitution G C intron_variant BRCA-EU 1 59138866 59138866 insertion of <=200bp - AT downstream_gene_variant BRCA-EU 1 59138866 59138866 insertion of <=200bp - AT intron_variant BRCA-EU 1 59139712 59139712 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 59139712 59139712 deletion of <=200bp T - intron_variant BRCA-EU 1 59140468 59140468 single base substitution G A downstream_gene_variant BRCA-EU 1 59140468 59140468 single base substitution G A intron_variant BRCA-EU 1 59140648 59140648 insertion of <=200bp - T downstream_gene_variant BRCA-EU 1 59140648 59140648 insertion of <=200bp - T intron_variant BRCA-EU 1 59141634 59141634 single base substitution C G downstream_gene_variant BRCA-EU 1 59141634 59141634 single base substitution C G intron_variant BRCA-EU 1 59141929 59141929 single base substitution C G downstream_gene_variant BRCA-EU 1 59141929 59141929 single base substitution C G intron_variant BRCA-EU 1 59143458 59143458 single base substitution T A downstream_gene_variant BRCA-EU 1 59143458 59143458 single base substitution T A intron_variant BRCA-EU 1 59144030 59144030 single base substitution A G downstream_gene_variant BRCA-EU 1 59144030 59144030 single base substitution A G intron_variant BRCA-EU 1 59144299 59144299 single base substitution G A downstream_gene_variant BRCA-EU 1 59144299 59144299 single base substitution G A intron_variant BRCA-EU 1 59144666 59144666 single base substitution T C downstream_gene_variant BRCA-EU 1 59144666 59144666 single base substitution T C intron_variant BRCA-EU 1 59144848 59144848 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 59144848 59144848 deletion of <=200bp T - intron_variant BRCA-EU 1 59146111 59146111 single base substitution G C downstream_gene_variant BRCA-EU 1 59146111 59146111 single base substitution G C intron_variant BRCA-EU 1 59148314 59148314 single base substitution C G intron_variant BRCA-EU 1 59148314 59148314 single base substitution C G upstream_gene_variant BRCA-EU 1 59149253 59149253 single base substitution G C intron_variant BRCA-EU 1 59149253 59149253 single base substitution G C upstream_gene_variant BRCA-EU 1 59151001 59151001 single base substitution A C downstream_gene_variant BRCA-EU 1 59151001 59151001 single base substitution A C intron_variant BRCA-EU 1 59151001 59151001 single base substitution A C upstream_gene_variant BRCA-EU 1 59151329 59151329 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 59151329 59151329 deletion of <=200bp T - intron_variant BRCA-EU 1 59151329 59151329 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 59151599 59151599 single base substitution C T downstream_gene_variant BRCA-EU 1 59151599 59151599 single base substitution C T intron_variant BRCA-EU 1 59151599 59151599 single base substitution C T upstream_gene_variant BRCA-EU 1 59151924 59151924 single base substitution G T downstream_gene_variant BRCA-EU 1 59151924 59151924 single base substitution G T intron_variant BRCA-EU 1 59151924 59151924 single base substitution G T upstream_gene_variant BRCA-EU 1 59154820 59154820 single base substitution T A downstream_gene_variant BRCA-EU 1 59154820 59154820 single base substitution T A intron_variant BRCA-EU 1 59156038 59156038 single base substitution C A downstream_gene_variant BRCA-EU 1 59156038 59156038 single base substitution C A exon_variant BRCA-EU 1 59156038 59156038 single base substitution C A missense_variant K90N 270G>T BRCA-EU 1 59156038 59156038 single base substitution C A upstream_gene_variant BRCA-EU 1 59157623 59157623 single base substitution T C downstream_gene_variant BRCA-EU 1 59157623 59157623 single base substitution T C intron_variant BRCA-EU 1 59157623 59157623 single base substitution T C upstream_gene_variant BRCA-EU 1 59158550 59158550 single base substitution T C exon_variant BRCA-EU 1 59158550 59158550 single base substitution T C synonymous_variant K67K 201A>G BRCA-EU 1 59158550 59158550 single base substitution T C upstream_gene_variant BRCA-EU 1 59164613 59164613 single base substitution G C intron_variant BRCA-EU 1 59164889 59164889 single base substitution G A intron_variant BRCA-EU 1 59164944 59164944 single base substitution G T intron_variant BRCA-EU 1 59166596 59166596 single base substitution T A upstream_gene_variant BRCA-EU 1 59168854 59168854 single base substitution C G upstream_gene_variant BRCA-EU 1 59170219 59170219 single base substitution A T upstream_gene_variant BRCA-EU 1 59170220 59170220 single base substitution A T upstream_gene_variant BRCA-FR 1 59124981 59124981 single base substitution T A 3_prime_UTR_variant BRCA-FR 1 59124981 59124981 single base substitution T A exon_variant BRCA-FR 1 59135079 59135079 single base substitution C G intron_variant BRCA-FR 1 59141634 59141634 single base substitution C G downstream_gene_variant BRCA-FR 1 59141634 59141634 single base substitution C G intron_variant BRCA-FR 1 59163244 59163244 single base substitution G C intron_variant BRCA-FR 1 59168573 59168573 single base substitution C T upstream_gene_variant BRCA-UK 1 59136652 59136652 single base substitution G C intron_variant BRCA-UK 1 59143458 59143458 single base substitution T A downstream_gene_variant BRCA-UK 1 59143458 59143458 single base substitution T A intron_variant BRCA-UK 1 59148015 59148015 single base substitution G A downstream_gene_variant BRCA-UK 1 59148015 59148015 single base substitution G A exon_variant BRCA-UK 1 59148015 59148015 single base substitution G A missense_variant S234F 701C>T BRCA-UK 1 59148015 59148015 single base substitution G A upstream_gene_variant BRCA-UK 1 59148314 59148314 single base substitution C G intron_variant BRCA-UK 1 59148314 59148314 single base substitution C G upstream_gene_variant BRCA-US 1 59127079 59127079 single base substitution T C missense_variant S757G 2269A>G BRCA-US 1 59127079 59127079 single base substitution T C splice_region_variant BRCA-US 1 59142677 59142677 single base substitution C T exon_variant BRCA-US 1 59142677 59142677 single base substitution C T synonymous_variant L437L 1311G>A BRCA-US 1 59156023 59156023 deletion of <=200bp T - downstream_gene_variant BRCA-US 1 59156023 59156023 deletion of <=200bp T - exon_variant BRCA-US 1 59156023 59156023 deletion of <=200bp T - frameshift_variant K95 BRCA-US 1 59156023 59156023 deletion of <=200bp T - upstream_gene_variant BTCA-JP 1 59126864 59126864 single base substitution G A exon_variant BTCA-JP 1 59126864 59126864 single base substitution G A missense_variant S769F 2306C>T BTCA-JP 1 59134492 59134492 single base substitution G C intron_variant BTCA-JP 1 59142616 59142616 single base substitution C T exon_variant BTCA-JP 1 59142616 59142616 single base substitution C T missense_variant A458T 1372G>A BTCA-JP 1 59165528 59165528 insertion of <=200bp - CCT intron_variant CESC-US 1 59147737 59147737 single base substitution C G downstream_gene_variant CESC-US 1 59147737 59147737 single base substitution C G exon_variant CESC-US 1 59147737 59147737 single base substitution C G missense_variant D327H 979G>C CESC-US 1 59147737 59147737 single base substitution C G upstream_gene_variant CESC-US 1 59158365 59158365 single base substitution G A exon_variant CESC-US 1 59158365 59158365 single base substitution G A intron_variant CESC-US 1 59158365 59158365 single base substitution G A upstream_gene_variant CESC-US 1 59165694 59165694 single base substitution C T exon_variant CESC-US 1 59165694 59165694 single base substitution C T missense_variant E11K 31G>A CLLE-ES 1 59144598 59144598 single base substitution A T downstream_gene_variant CLLE-ES 1 59144598 59144598 single base substitution A T intron_variant COAD-US 1 59127116 59127116 single base substitution C A exon_variant COAD-US 1 59127116 59127116 single base substitution C A missense_variant K744N 2232G>T COAD-US 1 59139252 59139252 single base substitution G A downstream_gene_variant COAD-US 1 59139252 59139252 single base substitution G A exon_variant COAD-US 1 59139252 59139252 single base substitution G A missense_variant T522M 1565C>T COAD-US 1 59142713 59142713 single base substitution T C exon_variant COAD-US 1 59142713 59142713 single base substitution T C synonymous_variant P425P 1275A>G COAD-US 1 59147795 59147795 deletion of <=200bp T - downstream_gene_variant COAD-US 1 59147795 59147795 deletion of <=200bp T - exon_variant COAD-US 1 59147795 59147795 deletion of <=200bp T - frameshift_variant K307 COAD-US 1 59147795 59147795 deletion of <=200bp T - upstream_gene_variant COAD-US 1 59147926 59147926 single base substitution T C downstream_gene_variant COAD-US 1 59147926 59147926 single base substitution T C exon_variant COAD-US 1 59147926 59147926 single base substitution T C missense_variant T264A 790A>G COAD-US 1 59147926 59147926 single base substitution T C upstream_gene_variant COAD-US 1 59148049 59148051 deletion of <=200bp CTT - disruptive_inframe_deletion EV222V COAD-US 1 59148049 59148051 deletion of <=200bp CTT - downstream_gene_variant COAD-US 1 59148049 59148051 deletion of <=200bp CTT - exon_variant COAD-US 1 59148049 59148051 deletion of <=200bp CTT - upstream_gene_variant COCA-CN 1 59137675 59137675 single base substitution G C downstream_gene_variant COCA-CN 1 59137675 59137675 single base substitution G C intron_variant COCA-CN 1 59147568 59147568 single base substitution C A downstream_gene_variant COCA-CN 1 59147568 59147568 single base substitution C A exon_variant COCA-CN 1 59147568 59147568 single base substitution C A missense_variant R383I 1148G>T COCA-CN 1 59148187 59148187 single base substitution T G exon_variant COCA-CN 1 59148187 59148187 single base substitution T G missense_variant N177H 529A>C COCA-CN 1 59148187 59148187 single base substitution T G upstream_gene_variant COCA-CN 1 59158643 59158643 single base substitution C A intron_variant COCA-CN 1 59158643 59158643 single base substitution C A upstream_gene_variant EOPC-DE 1 59138360 59138360 single base substitution A G downstream_gene_variant EOPC-DE 1 59138360 59138360 single base substitution A G intron_variant EOPC-DE 1 59167337 59167337 single base substitution G T upstream_gene_variant ESAD-UK 1 59116018 59116018 single base substitution C T downstream_gene_variant ESAD-UK 1 59116135 59116135 insertion of <=200bp - G downstream_gene_variant ESAD-UK 1 59116331 59116331 single base substitution T C downstream_gene_variant ESAD-UK 1 59117823 59117823 single base substitution G T downstream_gene_variant ESAD-UK 1 59128341 59128341 single base substitution A G intron_variant ESAD-UK 1 59129629 59129629 single base substitution T C intron_variant ESAD-UK 1 59131439 59131439 single base substitution C T intron_variant ESAD-UK 1 59131624 59131624 single base substitution G A intron_variant ESAD-UK 1 59132031 59132031 single base substitution T A intron_variant ESAD-UK 1 59133424 59133424 single base substitution C T intron_variant ESAD-UK 1 59134827 59134827 single base substitution A G intron_variant ESAD-UK 1 59135218 59135218 single base substitution G A intron_variant ESAD-UK 1 59153300 59153300 single base substitution T C downstream_gene_variant ESAD-UK 1 59153300 59153300 single base substitution T C intron_variant ESAD-UK 1 59153485 59153485 single base substitution G A downstream_gene_variant ESAD-UK 1 59153485 59153485 single base substitution G A intron_variant ESAD-UK 1 59155498 59155498 single base substitution A T downstream_gene_variant ESAD-UK 1 59155498 59155498 single base substitution A T intron_variant ESAD-UK 1 59155498 59155498 single base substitution A T upstream_gene_variant ESAD-UK 1 59155928 59155928 single base substitution C A downstream_gene_variant ESAD-UK 1 59155928 59155928 single base substitution C A intron_variant ESAD-UK 1 59155928 59155928 single base substitution C A splice_region_variant ESAD-UK 1 59155928 59155928 single base substitution C A upstream_gene_variant ESAD-UK 1 59157497 59157497 single base substitution C T downstream_gene_variant ESAD-UK 1 59157497 59157497 single base substitution C T intron_variant ESAD-UK 1 59157497 59157497 single base substitution C T upstream_gene_variant ESAD-UK 1 59168294 59168294 single base substitution C T upstream_gene_variant ESAD-UK 1 59169826 59169826 single base substitution C A upstream_gene_variant ESAD-UK 1 59169902 59169902 single base substitution G A upstream_gene_variant ESAD-UK 1 59170221 59170221 single base substitution A T upstream_gene_variant ESCA-CN 1 59160725 59160725 deletion of <=200bp A - intron_variant ESCA-CN 1 59160725 59160725 deletion of <=200bp A - upstream_gene_variant GBM-US 1 59132729 59132729 single base substitution T C exon_variant GBM-US 1 59132729 59132729 single base substitution T C missense_variant D671G 2012A>G GBM-US 1 59141202 59141202 single base substitution C T downstream_gene_variant GBM-US 1 59141202 59141202 single base substitution C T exon_variant GBM-US 1 59141202 59141202 single base substitution C T missense_variant D481N 1441G>A KIRC-US 1 59125681 59125681 single base substitution T A exon_variant KIRC-US 1 59125681 59125681 single base substitution T A missense_variant E825D 2475A>T KIRP-US 1 59125680 59125680 single base substitution A G exon_variant KIRP-US 1 59125680 59125680 single base substitution A G synonymous_variant L826L 2476T>C LAML-KR 1 59117519 59117519 single base substitution A C downstream_gene_variant LAML-KR 1 59133024 59133024 single base substitution T G intron_variant LAML-KR 1 59135529 59135529 single base substitution A C intron_variant LAML-KR 1 59142713 59142713 single base substitution T C exon_variant LAML-KR 1 59142713 59142713 single base substitution T C synonymous_variant P425P 1275A>G LAML-KR 1 59147926 59147926 single base substitution T C downstream_gene_variant LAML-KR 1 59147926 59147926 single base substitution T C exon_variant LAML-KR 1 59147926 59147926 single base substitution T C missense_variant T264A 790A>G LAML-KR 1 59147926 59147926 single base substitution T C upstream_gene_variant LAML-KR 1 59150973 59150973 single base substitution G A downstream_gene_variant LAML-KR 1 59150973 59150973 single base substitution G A intron_variant LAML-KR 1 59150973 59150973 single base substitution G A upstream_gene_variant LAML-KR 1 59158632 59158632 single base substitution T C intron_variant LAML-KR 1 59158632 59158632 single base substitution T C upstream_gene_variant LICA-CN 1 59133515 59133515 single base substitution T A splice_region_variant LICA-CN 1 59141198 59141198 single base substitution C A downstream_gene_variant LICA-CN 1 59141198 59141198 single base substitution C A exon_variant LICA-CN 1 59141198 59141198 single base substitution C A missense_variant R482I 1445G>T LICA-CN 1 59147564 59147564 single base substitution A G downstream_gene_variant LICA-CN 1 59147564 59147564 single base substitution A G exon_variant LICA-CN 1 59147564 59147564 single base substitution A G synonymous_variant N384N 1152T>C LICA-FR 1 59124631 59124636 deletion of <=200bp ACACAC - 3_prime_UTR_variant LICA-FR 1 59124631 59124636 deletion of <=200bp ACACAC - downstream_gene_variant LICA-FR 1 59124631 59124636 deletion of <=200bp ACACAC - exon_variant LICA-FR 1 59132249 59132249 insertion of <=200bp - T intron_variant LICA-FR 1 59133266 59133266 single base substitution G A intron_variant LICA-FR 1 59134832 59134832 single base substitution T C intron_variant LICA-FR 1 59143067 59143067 single base substitution T C intron_variant LINC-JP 1 59127309 59127309 single base substitution C A intron_variant LINC-JP 1 59130350 59130350 single base substitution T C intron_variant LINC-JP 1 59130988 59130988 single base substitution T C intron_variant LINC-JP 1 59131491 59131491 single base substitution C G intron_variant LINC-JP 1 59133497 59133497 single base substitution T C intron_variant LINC-JP 1 59134631 59134634 deletion of <=200bp TCAT - intron_variant LINC-JP 1 59134901 59134901 single base substitution A C intron_variant LINC-JP 1 59135494 59135494 single base substitution T A intron_variant LINC-JP 1 59138872 59138872 single base substitution A G downstream_gene_variant LINC-JP 1 59138872 59138872 single base substitution A G intron_variant LINC-JP 1 59142772 59142772 single base substitution C T intron_variant LINC-JP 1 59152255 59152255 single base substitution T C downstream_gene_variant LINC-JP 1 59152255 59152255 single base substitution T C intron_variant LINC-JP 1 59152255 59152255 single base substitution T C upstream_gene_variant LINC-JP 1 59152651 59152651 single base substitution G A downstream_gene_variant LINC-JP 1 59152651 59152651 single base substitution G A intron_variant LINC-JP 1 59153287 59153287 single base substitution C A downstream_gene_variant LINC-JP 1 59153287 59153287 single base substitution C A intron_variant LINC-JP 1 59160830 59160830 single base substitution A G exon_variant LINC-JP 1 59160830 59160830 single base substitution A G missense_variant S40P 118T>C LINC-JP 1 59160830 59160830 single base substitution A G upstream_gene_variant LIRI-JP 1 59115448 59115448 single base substitution T G downstream_gene_variant LIRI-JP 1 59115522 59115529 deletion of <=200bp TCCAGGGC - downstream_gene_variant LIRI-JP 1 59118126 59118126 single base substitution A G downstream_gene_variant LIRI-JP 1 59120377 59120377 single base substitution T C downstream_gene_variant LIRI-JP 1 59120735 59120735 single base substitution G A 3_prime_UTR_variant LIRI-JP 1 59120735 59120735 single base substitution G A downstream_gene_variant LIRI-JP 1 59120735 59120735 single base substitution G A exon_variant LIRI-JP 1 59120866 59120866 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 59120866 59120866 single base substitution T C downstream_gene_variant LIRI-JP 1 59120866 59120866 single base substitution T C exon_variant LIRI-JP 1 59122350 59122350 single base substitution A G 3_prime_UTR_variant LIRI-JP 1 59122350 59122350 single base substitution A G downstream_gene_variant LIRI-JP 1 59122350 59122350 single base substitution A G exon_variant LIRI-JP 1 59122940 59122940 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 59122940 59122940 single base substitution T C downstream_gene_variant LIRI-JP 1 59122940 59122940 single base substitution T C exon_variant LIRI-JP 1 59123429 59123429 single base substitution A C 3_prime_UTR_variant LIRI-JP 1 59123429 59123429 single base substitution A C downstream_gene_variant LIRI-JP 1 59123429 59123429 single base substitution A C exon_variant LIRI-JP 1 59129073 59129074 deletion of <=200bp CA - intron_variant LIRI-JP 1 59130018 59130018 single base substitution T A intron_variant LIRI-JP 1 59131942 59131942 single base substitution T G intron_variant LIRI-JP 1 59132315 59132315 single base substitution C T intron_variant LIRI-JP 1 59132540 59132540 single base substitution C A intron_variant LIRI-JP 1 59133978 59133978 single base substitution A G intron_variant LIRI-JP 1 59135897 59135897 single base substitution A G intron_variant LIRI-JP 1 59136349 59136349 single base substitution C T intron_variant LIRI-JP 1 59138972 59138972 single base substitution G C downstream_gene_variant LIRI-JP 1 59138972 59138972 single base substitution G C intron_variant LIRI-JP 1 59139609 59139609 single base substitution A G downstream_gene_variant LIRI-JP 1 59139609 59139609 single base substitution A G intron_variant LIRI-JP 1 59141378 59141378 single base substitution A C downstream_gene_variant LIRI-JP 1 59141378 59141378 single base substitution A C intron_variant LIRI-JP 1 59144233 59144233 single base substitution T G downstream_gene_variant LIRI-JP 1 59144233 59144233 single base substitution T G intron_variant LIRI-JP 1 59145025 59145025 single base substitution C T downstream_gene_variant LIRI-JP 1 59145025 59145025 single base substitution C T intron_variant LIRI-JP 1 59145263 59145263 single base substitution T A downstream_gene_variant LIRI-JP 1 59145263 59145263 single base substitution T A intron_variant LIRI-JP 1 59148759 59148759 single base substitution T C intron_variant LIRI-JP 1 59148759 59148759 single base substitution T C upstream_gene_variant LIRI-JP 1 59149972 59149972 single base substitution T A intron_variant LIRI-JP 1 59149972 59149972 single base substitution T A upstream_gene_variant LIRI-JP 1 59150411 59150411 single base substitution T C intron_variant LIRI-JP 1 59150411 59150411 single base substitution T C upstream_gene_variant LIRI-JP 1 59150941 59150941 insertion of <=200bp - A downstream_gene_variant LIRI-JP 1 59150941 59150941 insertion of <=200bp - A intron_variant LIRI-JP 1 59150941 59150941 insertion of <=200bp - A upstream_gene_variant LIRI-JP 1 59152539 59152539 single base substitution C A downstream_gene_variant LIRI-JP 1 59152539 59152539 single base substitution C A intron_variant LIRI-JP 1 59152539 59152539 single base substitution C A upstream_gene_variant LIRI-JP 1 59153437 59153437 single base substitution T C downstream_gene_variant LIRI-JP 1 59153437 59153437 single base substitution T C intron_variant LIRI-JP 1 59153527 59153527 single base substitution T C downstream_gene_variant LIRI-JP 1 59153527 59153527 single base substitution T C intron_variant LIRI-JP 1 59156475 59156475 single base substitution T A downstream_gene_variant LIRI-JP 1 59156475 59156475 single base substitution T A intron_variant LIRI-JP 1 59156475 59156475 single base substitution T A upstream_gene_variant LIRI-JP 1 59156606 59156606 single base substitution C T downstream_gene_variant LIRI-JP 1 59156606 59156606 single base substitution C T intron_variant LIRI-JP 1 59156606 59156606 single base substitution C T upstream_gene_variant LIRI-JP 1 59156687 59156687 single base substitution C T downstream_gene_variant LIRI-JP 1 59156687 59156687 single base substitution C T intron_variant LIRI-JP 1 59156687 59156687 single base substitution C T upstream_gene_variant LIRI-JP 1 59158270 59158270 single base substitution T C exon_variant LIRI-JP 1 59158270 59158270 single base substitution T C intron_variant LIRI-JP 1 59158270 59158270 single base substitution T C upstream_gene_variant LIRI-JP 1 59160947 59160947 single base substitution C A intron_variant LIRI-JP 1 59160947 59160947 single base substitution C A upstream_gene_variant LIRI-JP 1 59160965 59160965 single base substitution G C intron_variant LIRI-JP 1 59160965 59160965 single base substitution G C upstream_gene_variant LIRI-JP 1 59162187 59162187 single base substitution C T intron_variant LIRI-JP 1 59166783 59166783 single base substitution T C upstream_gene_variant LIRI-JP 1 59169377 59169377 single base substitution A T upstream_gene_variant LUSC-KR 1 59117519 59117519 single base substitution A C downstream_gene_variant LUSC-KR 1 59125894 59125894 single base substitution A G intron_variant LUSC-KR 1 59125899 59125899 single base substitution G A intron_variant LUSC-KR 1 59127024 59127024 single base substitution T G intron_variant LUSC-KR 1 59130535 59130535 single base substitution G C intron_variant LUSC-KR 1 59133027 59133027 single base substitution C A intron_variant LUSC-KR 1 59134586 59134586 single base substitution G C intron_variant LUSC-KR 1 59138375 59138375 single base substitution C T downstream_gene_variant LUSC-KR 1 59138375 59138375 single base substitution C T intron_variant LUSC-KR 1 59141365 59141365 single base substitution G A downstream_gene_variant LUSC-KR 1 59141365 59141365 single base substitution G A intron_variant LUSC-KR 1 59141681 59141681 single base substitution T C downstream_gene_variant LUSC-KR 1 59141681 59141681 single base substitution T C intron_variant LUSC-KR 1 59142057 59142057 single base substitution C T downstream_gene_variant LUSC-KR 1 59142057 59142057 single base substitution C T intron_variant LUSC-KR 1 59142564 59142564 single base substitution C T exon_variant LUSC-KR 1 59142564 59142564 single base substitution C T intron_variant LUSC-KR 1 59165838 59165838 single base substitution T G upstream_gene_variant LUSC-US 1 59133586 59133586 single base substitution T A exon_variant LUSC-US 1 59133586 59133586 single base substitution T A missense_variant H592L 1775A>T LUSC-US 1 59147875 59147875 single base substitution G C downstream_gene_variant LUSC-US 1 59147875 59147875 single base substitution G C exon_variant LUSC-US 1 59147875 59147875 single base substitution G C missense_variant Q281E 841C>G LUSC-US 1 59147875 59147875 single base substitution G C upstream_gene_variant MALY-DE 1 59115888 59115888 single base substitution G A downstream_gene_variant MALY-DE 1 59116995 59117031 deletion of <=200bp GTGAAGCTGCCCATTTTGGATTTGTCTAATCCAAGAT - downstream_gene_variant MALY-DE 1 59117107 59117114 deletion of <=200bp TATTTGTA - downstream_gene_variant MALY-DE 1 59125810 59125810 single base substitution C T exon_variant MALY-DE 1 59125810 59125810 single base substitution C T synonymous_variant R782R 2346G>A MALY-DE 1 59131566 59131566 single base substitution C A intron_variant MALY-DE 1 59137404 59137404 insertion of <=200bp - A intron_variant MALY-DE 1 59138980 59138980 single base substitution A G downstream_gene_variant MALY-DE 1 59138980 59138980 single base substitution A G intron_variant MALY-DE 1 59156448 59156448 single base substitution A C downstream_gene_variant MALY-DE 1 59156448 59156448 single base substitution A C intron_variant MALY-DE 1 59156448 59156448 single base substitution A C upstream_gene_variant MALY-DE 1 59161624 59161624 single base substitution A G intron_variant MELA-AU 1 59115453 59115453 single base substitution C T downstream_gene_variant MELA-AU 1 59116136 59116136 single base substitution G T downstream_gene_variant MELA-AU 1 59116560 59116560 single base substitution G A downstream_gene_variant MELA-AU 1 59116597 59116597 single base substitution C T downstream_gene_variant MELA-AU 1 59116722 59116722 single base substitution G C downstream_gene_variant MELA-AU 1 59116898 59116898 single base substitution G A downstream_gene_variant MELA-AU 1 59116927 59116927 single base substitution G A downstream_gene_variant MELA-AU 1 59117192 59117192 single base substitution G A downstream_gene_variant MELA-AU 1 59117413 59117413 single base substitution G T downstream_gene_variant MELA-AU 1 59117852 59117852 single base substitution G A downstream_gene_variant MELA-AU 1 59118926 59118926 single base substitution T C downstream_gene_variant MELA-AU 1 59118933 59118933 single base substitution A C downstream_gene_variant MELA-AU 1 59119136 59119136 single base substitution G A downstream_gene_variant MELA-AU 1 59119912 59119912 single base substitution G C downstream_gene_variant MELA-AU 1 59120790 59120790 single base substitution T A 3_prime_UTR_variant MELA-AU 1 59120790 59120790 single base substitution T A downstream_gene_variant MELA-AU 1 59120790 59120790 single base substitution T A exon_variant MELA-AU 1 59121043 59121043 single base substitution G A 3_prime_UTR_variant MELA-AU 1 59121043 59121043 single base substitution G A downstream_gene_variant MELA-AU 1 59121043 59121043 single base substitution G A exon_variant MELA-AU 1 59121924 59121924 single base substitution G A 3_prime_UTR_variant MELA-AU 1 59121924 59121924 single base substitution G A downstream_gene_variant MELA-AU 1 59121924 59121924 single base substitution G A exon_variant MELA-AU 1 59121933 59121933 single base substitution G A 3_prime_UTR_variant MELA-AU 1 59121933 59121933 single base substitution G A downstream_gene_variant MELA-AU 1 59121933 59121933 single base substitution G A exon_variant MELA-AU 1 59122234 59122234 single base substitution G A 3_prime_UTR_variant MELA-AU 1 59122234 59122234 single base substitution G A downstream_gene_variant MELA-AU 1 59122234 59122234 single base substitution G A exon_variant MELA-AU 1 59122626 59122626 single base substitution G A 3_prime_UTR_variant MELA-AU 1 59122626 59122626 single base substitution G A downstream_gene_variant MELA-AU 1 59122626 59122626 single base substitution G A exon_variant MELA-AU 1 59122850 59122850 single base substitution G A 3_prime_UTR_variant MELA-AU 1 59122850 59122850 single base substitution G A downstream_gene_variant MELA-AU 1 59122850 59122850 single base substitution G A exon_variant MELA-AU 1 59123688 59123688 single base substitution G A 3_prime_UTR_variant MELA-AU 1 59123688 59123688 single base substitution G A downstream_gene_variant MELA-AU 1 59123688 59123688 single base substitution G A exon_variant MELA-AU 1 59123757 59123757 single base substitution G A 3_prime_UTR_variant MELA-AU 1 59123757 59123757 single base substitution G A downstream_gene_variant MELA-AU 1 59123757 59123757 single base substitution G A exon_variant MELA-AU 1 59124250 59124250 single base substitution C T 3_prime_UTR_variant MELA-AU 1 59124250 59124250 single base substitution C T downstream_gene_variant MELA-AU 1 59124250 59124250 single base substitution C T exon_variant MELA-AU 1 59124447 59124447 single base substitution A C 3_prime_UTR_variant MELA-AU 1 59124447 59124447 single base substitution A C downstream_gene_variant MELA-AU 1 59124447 59124447 single base substitution A C exon_variant MELA-AU 1 59125741 59125741 single base substitution G A exon_variant MELA-AU 1 59125741 59125741 single base substitution G A synonymous_variant F805F 2415C>T MELA-AU 1 59125906 59125906 single base substitution T C intron_variant MELA-AU 1 59126715 59126715 single base substitution G A intron_variant MELA-AU 1 59126906 59126906 single base substitution G A splice_region_variant MELA-AU 1 59126975 59126975 single base substitution G A intron_variant MELA-AU 1 59128609 59128609 single base substitution G A intron_variant MELA-AU 1 59128762 59128762 single base substitution G A intron_variant MELA-AU 1 59128815 59128815 single base substitution T C intron_variant MELA-AU 1 59128842 59128842 single base substitution G A intron_variant MELA-AU 1 59129372 59129372 single base substitution G A intron_variant MELA-AU 1 59130444 59130444 single base substitution T C intron_variant MELA-AU 1 59132669 59132669 single base substitution G A intron_variant MELA-AU 1 59134689 59134689 single base substitution C T exon_variant MELA-AU 1 59134689 59134689 single base substitution C T synonymous_variant L561L 1683G>A MELA-AU 1 59134719 59134719 single base substitution G A intron_variant MELA-AU 1 59134769 59134769 single base substitution T A intron_variant MELA-AU 1 59136248 59136248 single base substitution T C intron_variant MELA-AU 1 59137022 59137022 single base substitution G A intron_variant MELA-AU 1 59137101 59137101 single base substitution G A intron_variant MELA-AU 1 59138523 59138523 single base substitution G A downstream_gene_variant MELA-AU 1 59138523 59138523 single base substitution G A intron_variant MELA-AU 1 59138547 59138547 single base substitution G A downstream_gene_variant MELA-AU 1 59138547 59138547 single base substitution G A intron_variant MELA-AU 1 59138617 59138617 single base substitution G A downstream_gene_variant MELA-AU 1 59138617 59138617 single base substitution G A intron_variant MELA-AU 1 59138723 59138723 single base substitution G A downstream_gene_variant MELA-AU 1 59138723 59138723 single base substitution G A intron_variant MELA-AU 1 59139521 59139521 single base substitution A T downstream_gene_variant MELA-AU 1 59139521 59139521 single base substitution A T intron_variant MELA-AU 1 59139524 59139524 single base substitution C T downstream_gene_variant MELA-AU 1 59139524 59139524 single base substitution C T intron_variant MELA-AU 1 59139549 59139549 single base substitution G A downstream_gene_variant MELA-AU 1 59139549 59139549 single base substitution G A intron_variant MELA-AU 1 59140358 59140358 single base substitution G A downstream_gene_variant MELA-AU 1 59140358 59140358 single base substitution G A intron_variant MELA-AU 1 59141219 59141219 single base substitution T A downstream_gene_variant MELA-AU 1 59141219 59141219 single base substitution T A exon_variant MELA-AU 1 59141219 59141219 single base substitution T A missense_variant D475V 1424A>T MELA-AU 1 59141258 59141258 single base substitution G A downstream_gene_variant MELA-AU 1 59141258 59141258 single base substitution G A splice_region_variant MELA-AU 1 59141605 59141605 single base substitution G A downstream_gene_variant MELA-AU 1 59141605 59141605 single base substitution G A intron_variant MELA-AU 1 59142827 59142827 deletion of <=200bp A - intron_variant MELA-AU 1 59143735 59143735 single base substitution A G downstream_gene_variant MELA-AU 1 59143735 59143735 single base substitution A G intron_variant MELA-AU 1 59143988 59143988 single base substitution G A downstream_gene_variant MELA-AU 1 59143988 59143988 single base substitution G A intron_variant MELA-AU 1 59144394 59144394 single base substitution G A downstream_gene_variant MELA-AU 1 59144394 59144394 single base substitution G A intron_variant MELA-AU 1 59144671 59144671 single base substitution G A downstream_gene_variant MELA-AU 1 59144671 59144671 single base substitution G A intron_variant MELA-AU 1 59144701 59144701 single base substitution G A downstream_gene_variant MELA-AU 1 59144701 59144701 single base substitution G A intron_variant MELA-AU 1 59145068 59145068 single base substitution G T downstream_gene_variant MELA-AU 1 59145068 59145068 single base substitution G T intron_variant MELA-AU 1 59145351 59145351 single base substitution G A downstream_gene_variant MELA-AU 1 59145351 59145351 single base substitution G A intron_variant MELA-AU 1 59145602 59145602 single base substitution G A downstream_gene_variant MELA-AU 1 59145602 59145602 single base substitution G A intron_variant MELA-AU 1 59145675 59145675 single base substitution G A downstream_gene_variant MELA-AU 1 59145675 59145675 single base substitution G A intron_variant MELA-AU 1 59145968 59145969 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 59145968 59145969 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 59146740 59146740 single base substitution G A downstream_gene_variant MELA-AU 1 59146740 59146740 single base substitution G A intron_variant MELA-AU 1 59148269 59148269 single base substitution A G intron_variant MELA-AU 1 59148269 59148269 single base substitution A G upstream_gene_variant MELA-AU 1 59148509 59148509 single base substitution A C intron_variant MELA-AU 1 59148509 59148509 single base substitution A C upstream_gene_variant MELA-AU 1 59149449 59149449 single base substitution G A intron_variant MELA-AU 1 59149449 59149449 single base substitution G A upstream_gene_variant MELA-AU 1 59149757 59149757 single base substitution G A intron_variant MELA-AU 1 59149757 59149757 single base substitution G A upstream_gene_variant MELA-AU 1 59149851 59149851 single base substitution C G intron_variant MELA-AU 1 59149851 59149851 single base substitution C G upstream_gene_variant MELA-AU 1 59150451 59150451 single base substitution A G intron_variant MELA-AU 1 59150451 59150451 single base substitution A G upstream_gene_variant MELA-AU 1 59151176 59151176 single base substitution G A downstream_gene_variant MELA-AU 1 59151176 59151176 single base substitution G A intron_variant MELA-AU 1 59151176 59151176 single base substitution G A upstream_gene_variant MELA-AU 1 59151366 59151366 single base substitution T C downstream_gene_variant MELA-AU 1 59151366 59151366 single base substitution T C intron_variant MELA-AU 1 59151366 59151366 single base substitution T C upstream_gene_variant MELA-AU 1 59152025 59152026 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 59152025 59152026 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 59152025 59152026 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 59152210 59152210 single base substitution C T downstream_gene_variant MELA-AU 1 59152210 59152210 single base substitution C T intron_variant MELA-AU 1 59152210 59152210 single base substitution C T upstream_gene_variant MELA-AU 1 59152379 59152379 single base substitution G A downstream_gene_variant MELA-AU 1 59152379 59152379 single base substitution G A intron_variant MELA-AU 1 59152379 59152379 single base substitution G A upstream_gene_variant MELA-AU 1 59152443 59152443 single base substitution G A downstream_gene_variant MELA-AU 1 59152443 59152443 single base substitution G A intron_variant MELA-AU 1 59152443 59152443 single base substitution G A upstream_gene_variant MELA-AU 1 59152590 59152590 single base substitution G A downstream_gene_variant MELA-AU 1 59152590 59152590 single base substitution G A intron_variant MELA-AU 1 59152738 59152738 single base substitution A T downstream_gene_variant MELA-AU 1 59152738 59152738 single base substitution A T intron_variant MELA-AU 1 59153019 59153019 single base substitution G A downstream_gene_variant MELA-AU 1 59153019 59153019 single base substitution G A intron_variant MELA-AU 1 59153345 59153345 single base substitution C G downstream_gene_variant MELA-AU 1 59153345 59153345 single base substitution C G intron_variant MELA-AU 1 59154221 59154221 single base substitution T C downstream_gene_variant MELA-AU 1 59154221 59154221 single base substitution T C intron_variant MELA-AU 1 59154806 59154806 single base substitution A G downstream_gene_variant MELA-AU 1 59154806 59154806 single base substitution A G intron_variant MELA-AU 1 59155606 59155607 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 59155606 59155607 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 59155606 59155607 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 59156579 59156580 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 59156579 59156580 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 59156579 59156580 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 59157837 59157837 single base substitution G T downstream_gene_variant MELA-AU 1 59157837 59157837 single base substitution G T intron_variant MELA-AU 1 59157837 59157837 single base substitution G T upstream_gene_variant MELA-AU 1 59157839 59157839 single base substitution G T downstream_gene_variant MELA-AU 1 59157839 59157839 single base substitution G T intron_variant MELA-AU 1 59157839 59157839 single base substitution G T upstream_gene_variant MELA-AU 1 59158065 59158065 single base substitution G A downstream_gene_variant MELA-AU 1 59158065 59158065 single base substitution G A intron_variant MELA-AU 1 59158065 59158065 single base substitution G A upstream_gene_variant MELA-AU 1 59158786 59158786 single base substitution A G intron_variant MELA-AU 1 59158786 59158786 single base substitution A G upstream_gene_variant MELA-AU 1 59158794 59158794 single base substitution A C intron_variant MELA-AU 1 59158794 59158794 single base substitution A C upstream_gene_variant MELA-AU 1 59159388 59159388 single base substitution C G intron_variant MELA-AU 1 59159388 59159388 single base substitution C G upstream_gene_variant MELA-AU 1 59159925 59159925 single base substitution G T intron_variant MELA-AU 1 59159925 59159925 single base substitution G T upstream_gene_variant MELA-AU 1 59160107 59160107 single base substitution A G intron_variant MELA-AU 1 59160107 59160107 single base substitution A G upstream_gene_variant MELA-AU 1 59160116 59160116 single base substitution A G intron_variant MELA-AU 1 59160116 59160116 single base substitution A G upstream_gene_variant MELA-AU 1 59160201 59160201 single base substitution G A intron_variant MELA-AU 1 59160201 59160201 single base substitution G A upstream_gene_variant MELA-AU 1 59162698 59162698 single base substitution T A intron_variant MELA-AU 1 59163142 59163142 single base substitution G A intron_variant MELA-AU 1 59163451 59163451 single base substitution G A intron_variant MELA-AU 1 59165194 59165194 single base substitution G A intron_variant MELA-AU 1 59165236 59165236 single base substitution G A intron_variant MELA-AU 1 59165783 59165783 single base substitution G A upstream_gene_variant MELA-AU 1 59165835 59165835 single base substitution C T upstream_gene_variant MELA-AU 1 59165836 59165836 single base substitution C T upstream_gene_variant MELA-AU 1 59166311 59166311 single base substitution G A upstream_gene_variant MELA-AU 1 59166321 59166322 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 59166441 59166441 single base substitution C T upstream_gene_variant MELA-AU 1 59166462 59166462 single base substitution C T upstream_gene_variant MELA-AU 1 59166578 59166578 single base substitution C T upstream_gene_variant MELA-AU 1 59166597 59166597 single base substitution C T upstream_gene_variant MELA-AU 1 59166920 59166920 single base substitution G A upstream_gene_variant MELA-AU 1 59167135 59167135 single base substitution A C upstream_gene_variant MELA-AU 1 59167337 59167337 single base substitution G T upstream_gene_variant MELA-AU 1 59167408 59167408 single base substitution C A upstream_gene_variant MELA-AU 1 59167587 59167587 single base substitution G A upstream_gene_variant MELA-AU 1 59167720 59167720 single base substitution G A upstream_gene_variant MELA-AU 1 59167836 59167836 single base substitution G A upstream_gene_variant MELA-AU 1 59167897 59167897 single base substitution C T upstream_gene_variant MELA-AU 1 59167936 59167936 single base substitution C T upstream_gene_variant MELA-AU 1 59168918 59168919 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 59168919 59168919 single base substitution C T upstream_gene_variant MELA-AU 1 59169150 59169150 single base substitution C T upstream_gene_variant MELA-AU 1 59169383 59169383 single base substitution C T upstream_gene_variant MELA-AU 1 59169421 59169421 single base substitution A C upstream_gene_variant MELA-AU 1 59169575 59169575 single base substitution C T upstream_gene_variant MELA-AU 1 59169662 59169662 single base substitution C T upstream_gene_variant MELA-AU 1 59169755 59169755 single base substitution C T upstream_gene_variant MELA-AU 1 59169930 59169930 single base substitution G A upstream_gene_variant MELA-AU 1 59170281 59170281 single base substitution C T upstream_gene_variant MELA-AU 1 59170737 59170737 single base substitution T C upstream_gene_variant ORCA-IN 1 59147697 59147697 single base substitution G A downstream_gene_variant ORCA-IN 1 59147697 59147697 single base substitution G A exon_variant ORCA-IN 1 59147697 59147697 single base substitution G A missense_variant S340F 1019C>T ORCA-IN 1 59147697 59147697 single base substitution G A upstream_gene_variant ORCA-IN 1 59147889 59147889 single base substitution G A downstream_gene_variant ORCA-IN 1 59147889 59147889 single base substitution G A exon_variant ORCA-IN 1 59147889 59147889 single base substitution G A missense_variant S276F 827C>T ORCA-IN 1 59147889 59147889 single base substitution G A upstream_gene_variant ORCA-IN 1 59156699 59156699 single base substitution C G downstream_gene_variant ORCA-IN 1 59156699 59156699 single base substitution C G intron_variant ORCA-IN 1 59156699 59156699 single base substitution C G upstream_gene_variant OV-AU 1 59126552 59126552 single base substitution C G intron_variant OV-AU 1 59127736 59127736 single base substitution G A intron_variant OV-AU 1 59136781 59136781 single base substitution T A intron_variant OV-AU 1 59140737 59140737 single base substitution C G downstream_gene_variant OV-AU 1 59140737 59140737 single base substitution C G intron_variant OV-AU 1 59150248 59150248 single base substitution A T intron_variant OV-AU 1 59150248 59150248 single base substitution A T upstream_gene_variant OV-AU 1 59153033 59153033 single base substitution G C downstream_gene_variant OV-AU 1 59153033 59153033 single base substitution G C intron_variant OV-AU 1 59153297 59153297 single base substitution G C downstream_gene_variant OV-AU 1 59153297 59153297 single base substitution G C intron_variant OV-AU 1 59156726 59156726 single base substitution C A downstream_gene_variant OV-AU 1 59156726 59156726 single base substitution C A intron_variant OV-AU 1 59156726 59156726 single base substitution C A upstream_gene_variant OV-AU 1 59166176 59166176 single base substitution G A upstream_gene_variant OV-AU 1 59168112 59168112 single base substitution A C upstream_gene_variant OV-AU 1 59168989 59168989 single base substitution A C upstream_gene_variant PACA-AU 1 59135804 59135804 single base substitution A C intron_variant PACA-AU 1 59143303 59143303 single base substitution T C downstream_gene_variant PACA-AU 1 59143303 59143303 single base substitution T C intron_variant PACA-AU 1 59143867 59143867 single base substitution G C downstream_gene_variant PACA-AU 1 59143867 59143867 single base substitution G C intron_variant PACA-AU 1 59157164 59157164 single base substitution C T downstream_gene_variant PACA-AU 1 59157164 59157164 single base substitution C T intron_variant PACA-AU 1 59157164 59157164 single base substitution C T upstream_gene_variant PACA-AU 1 59157436 59157436 single base substitution G C downstream_gene_variant PACA-AU 1 59157436 59157436 single base substitution G C intron_variant PACA-AU 1 59157436 59157436 single base substitution G C upstream_gene_variant PACA-AU 1 59169436 59169436 single base substitution A G upstream_gene_variant PACA-CA 1 59123910 59123910 single base substitution T C 3_prime_UTR_variant PACA-CA 1 59123910 59123910 single base substitution T C downstream_gene_variant PACA-CA 1 59123910 59123910 single base substitution T C exon_variant PACA-CA 1 59123968 59123968 single base substitution A G 3_prime_UTR_variant PACA-CA 1 59123968 59123968 single base substitution A G downstream_gene_variant PACA-CA 1 59123968 59123968 single base substitution A G exon_variant PACA-CA 1 59125632 59125632 single base substitution A T 3_prime_UTR_variant PACA-CA 1 59125632 59125632 single base substitution A T exon_variant PACA-CA 1 59127148 59127148 single base substitution C T exon_variant PACA-CA 1 59127148 59127148 single base substitution C T missense_variant E734K 2200G>A PACA-CA 1 59127214 59127214 single base substitution C A intron_variant PACA-CA 1 59127652 59127652 single base substitution T A intron_variant PACA-CA 1 59128363 59128363 single base substitution C T intron_variant PACA-CA 1 59131905 59131905 single base substitution C T intron_variant PACA-CA 1 59151594 59151594 single base substitution G A downstream_gene_variant PACA-CA 1 59151594 59151594 single base substitution G A intron_variant PACA-CA 1 59151594 59151594 single base substitution G A upstream_gene_variant PACA-CA 1 59157202 59157202 insertion of <=200bp - A downstream_gene_variant PACA-CA 1 59157202 59157202 insertion of <=200bp - A intron_variant PACA-CA 1 59157202 59157202 insertion of <=200bp - A upstream_gene_variant PACA-CA 1 59157837 59157837 single base substitution G C downstream_gene_variant PACA-CA 1 59157837 59157837 single base substitution G C intron_variant PACA-CA 1 59157837 59157837 single base substitution G C upstream_gene_variant PACA-CA 1 59160034 59160034 single base substitution C T intron_variant PACA-CA 1 59160034 59160034 single base substitution C T upstream_gene_variant PACA-CA 1 59163929 59163929 single base substitution C T intron_variant PACA-CA 1 59163951 59163951 single base substitution T G intron_variant PACA-CA 1 59165152 59165152 single base substitution A G intron_variant PACA-CA 1 59167671 59167671 single base substitution C T upstream_gene_variant PACA-CA 1 59170690 59170690 single base substitution G A upstream_gene_variant PBCA-DE 1 59156534 59156534 single base substitution G A downstream_gene_variant PBCA-DE 1 59156534 59156534 single base substitution G A intron_variant PBCA-DE 1 59156534 59156534 single base substitution G A upstream_gene_variant PBCA-DE 1 59167316 59167316 single base substitution C A upstream_gene_variant PBCA-DE 1 59167649 59167649 single base substitution G A upstream_gene_variant PRAD-CA 1 59118112 59118112 single base substitution G A downstream_gene_variant PRAD-CA 1 59130901 59130901 single base substitution A G intron_variant PRAD-CA 1 59150252 59150252 single base substitution G A intron_variant PRAD-CA 1 59150252 59150252 single base substitution G A upstream_gene_variant PRAD-CA 1 59153401 59153401 single base substitution C A downstream_gene_variant PRAD-CA 1 59153401 59153401 single base substitution C A intron_variant PRAD-CA 1 59156207 59156207 single base substitution G A downstream_gene_variant PRAD-CA 1 59156207 59156207 single base substitution G A intron_variant PRAD-CA 1 59156207 59156207 single base substitution G A upstream_gene_variant PRAD-CA 1 59157184 59157184 single base substitution G A downstream_gene_variant PRAD-CA 1 59157184 59157184 single base substitution G A intron_variant PRAD-CA 1 59157184 59157184 single base substitution G A upstream_gene_variant PRAD-UK 1 59120696 59120696 single base substitution C A 3_prime_UTR_variant PRAD-UK 1 59120696 59120696 single base substitution C A downstream_gene_variant PRAD-UK 1 59120696 59120696 single base substitution C A exon_variant PRAD-UK 1 59130353 59130353 single base substitution A C intron_variant PRAD-UK 1 59150097 59150097 single base substitution T A intron_variant PRAD-UK 1 59150097 59150097 single base substitution T A upstream_gene_variant PRAD-UK 1 59153060 59153060 single base substitution A G downstream_gene_variant PRAD-UK 1 59153060 59153060 single base substitution A G intron_variant PRAD-UK 1 59159375 59159384 deletion of <=200bp CTTGCTTCCA - intron_variant PRAD-UK 1 59159375 59159384 deletion of <=200bp CTTGCTTCCA - upstream_gene_variant PRAD-UK 1 59164793 59164793 single base substitution A C intron_variant PRAD-US 1 59147849 59147849 single base substitution A T downstream_gene_variant PRAD-US 1 59147849 59147849 single base substitution A T exon_variant PRAD-US 1 59147849 59147849 single base substitution A T synonymous_variant L289L 867T>A PRAD-US 1 59147849 59147849 single base substitution A T upstream_gene_variant READ-US 1 59131245 59131245 single base substitution C T exon_variant READ-US 1 59131245 59131245 single base substitution C T missense_variant R697Q 2090G>A READ-US 1 59147659 59147659 single base substitution T G downstream_gene_variant READ-US 1 59147659 59147659 single base substitution T G exon_variant READ-US 1 59147659 59147659 single base substitution T G missense_variant N353H 1057A>C READ-US 1 59147659 59147659 single base substitution T G upstream_gene_variant READ-US 1 59165688 59165688 single base substitution C T exon_variant READ-US 1 59165688 59165688 single base substitution C T missense_variant D13N 37G>A RECA-EU 1 59117519 59117519 single base substitution A C downstream_gene_variant RECA-EU 1 59123802 59123802 single base substitution T A 3_prime_UTR_variant RECA-EU 1 59123802 59123802 single base substitution T A downstream_gene_variant RECA-EU 1 59123802 59123802 single base substitution T A exon_variant RECA-EU 1 59134804 59134804 single base substitution C A intron_variant RECA-EU 1 59135529 59135529 single base substitution A C intron_variant RECA-EU 1 59138572 59138572 single base substitution G A downstream_gene_variant RECA-EU 1 59138572 59138572 single base substitution G A intron_variant RECA-EU 1 59143151 59143151 single base substitution T G downstream_gene_variant RECA-EU 1 59143151 59143151 single base substitution T G intron_variant RECA-EU 1 59143387 59143387 single base substitution T C downstream_gene_variant RECA-EU 1 59143387 59143387 single base substitution T C intron_variant RECA-EU 1 59159719 59159719 single base substitution G A intron_variant RECA-EU 1 59159719 59159719 single base substitution G A upstream_gene_variant SKCA-BR 1 59116136 59116136 insertion of <=200bp - GT downstream_gene_variant SKCA-BR 1 59116758 59116758 single base substitution T C downstream_gene_variant SKCA-BR 1 59117519 59117519 single base substitution A C downstream_gene_variant SKCA-BR 1 59119641 59119641 single base substitution A G downstream_gene_variant SKCA-BR 1 59119663 59119663 single base substitution T C downstream_gene_variant SKCA-BR 1 59123702 59123702 single base substitution G A 3_prime_UTR_variant SKCA-BR 1 59123702 59123702 single base substitution G A downstream_gene_variant SKCA-BR 1 59123702 59123702 single base substitution G A exon_variant SKCA-BR 1 59127825 59127825 single base substitution G A intron_variant SKCA-BR 1 59135290 59135290 single base substitution G A intron_variant SKCA-BR 1 59136418 59136418 single base substitution G A intron_variant SKCA-BR 1 59141914 59141914 single base substitution C A downstream_gene_variant SKCA-BR 1 59141914 59141914 single base substitution C A intron_variant SKCA-BR 1 59142669 59142669 single base substitution C T exon_variant SKCA-BR 1 59142669 59142669 single base substitution C T missense_variant C440Y 1319G>A SKCA-BR 1 59146496 59146496 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 1 59146496 59146496 insertion of <=200bp - AT intron_variant SKCA-BR 1 59148894 59148894 single base substitution G A intron_variant SKCA-BR 1 59148894 59148894 single base substitution G A upstream_gene_variant SKCA-BR 1 59150236 59150237 deletion of <=200bp CA - intron_variant SKCA-BR 1 59150236 59150237 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 1 59154331 59154331 single base substitution C A downstream_gene_variant SKCA-BR 1 59154331 59154331 single base substitution C A intron_variant SKCA-BR 1 59155350 59155350 single base substitution A C downstream_gene_variant SKCA-BR 1 59155350 59155350 single base substitution A C intron_variant SKCA-BR 1 59155350 59155350 single base substitution A C upstream_gene_variant SKCA-BR 1 59160117 59160117 single base substitution A C intron_variant SKCA-BR 1 59160117 59160117 single base substitution A C upstream_gene_variant SKCA-BR 1 59160283 59160283 single base substitution G C intron_variant SKCA-BR 1 59160283 59160283 single base substitution G C upstream_gene_variant SKCA-BR 1 59162846 59162846 single base substitution G A intron_variant SKCA-BR 1 59163758 59163758 single base substitution A C intron_variant SKCA-BR 1 59169195 59169196 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 1 59170271 59170271 single base substitution C T upstream_gene_variant SKCA-BR 1 59170272 59170272 single base substitution C T upstream_gene_variant SKCM-US 1 59125680 59125680 single base substitution A T exon_variant SKCM-US 1 59125680 59125680 single base substitution A T missense_variant L826M 2476T>A SKCM-US 1 59126874 59126874 single base substitution G A exon_variant SKCM-US 1 59126874 59126874 single base substitution G A missense_variant R766C 2296C>T SKCM-US 1 59126878 59126878 single base substitution G A exon_variant SKCM-US 1 59126878 59126878 single base substitution G A synonymous_variant I764I 2292C>T SKCM-US 1 59131237 59131237 single base substitution G A exon_variant SKCM-US 1 59131237 59131237 single base substitution G A missense_variant P700S 2098C>T SKCM-US 1 59132748 59132748 single base substitution G A exon_variant SKCM-US 1 59132748 59132748 single base substitution G A missense_variant P665S 1993C>T SKCM-US 1 59139288 59139288 single base substitution C T downstream_gene_variant SKCM-US 1 59139288 59139288 single base substitution C T exon_variant SKCM-US 1 59139288 59139288 single base substitution C T missense_variant G510E 1529G>A SKCM-US 1 59147533 59147533 single base substitution G A downstream_gene_variant SKCM-US 1 59147533 59147533 single base substitution G A exon_variant SKCM-US 1 59147533 59147533 single base substitution G A missense_variant P395S 1183C>T SKCM-US 1 59147776 59147776 single base substitution G A downstream_gene_variant SKCM-US 1 59147776 59147776 single base substitution G A exon_variant SKCM-US 1 59147776 59147776 single base substitution G A stop_gained Q314* 940C>T SKCM-US 1 59147776 59147776 single base substitution G A upstream_gene_variant SKCM-US 1 59147793 59147793 single base substitution G A downstream_gene_variant SKCM-US 1 59147793 59147793 single base substitution G A exon_variant SKCM-US 1 59147793 59147793 single base substitution G A missense_variant S308L 923C>T SKCM-US 1 59147793 59147793 single base substitution G A upstream_gene_variant SKCM-US 1 59147987 59147987 single base substitution A G downstream_gene_variant SKCM-US 1 59147987 59147987 single base substitution A G exon_variant SKCM-US 1 59147987 59147987 single base substitution A G synonymous_variant S243S 729T>C SKCM-US 1 59147987 59147987 single base substitution A G upstream_gene_variant SKCM-US 1 59148172 59148172 single base substitution G A exon_variant SKCM-US 1 59148172 59148172 single base substitution G A missense_variant H182Y 544C>T SKCM-US 1 59148172 59148172 single base substitution G A upstream_gene_variant STAD-US 1 59125684 59125684 single base substitution C A exon_variant STAD-US 1 59125684 59125684 single base substitution C A missense_variant K824N 2472G>T STAD-US 1 59125788 59125788 single base substitution T C exon_variant STAD-US 1 59125788 59125788 single base substitution T C missense_variant N790D 2368A>G STAD-US 1 59126870 59126870 single base substitution C T exon_variant STAD-US 1 59126870 59126870 single base substitution C T missense_variant R767Q 2300G>A STAD-US 1 59131250 59131250 single base substitution A G exon_variant STAD-US 1 59131250 59131250 single base substitution A G synonymous_variant Y695Y 2085T>C STAD-US 1 59132821 59132821 single base substitution G T exon_variant STAD-US 1 59132821 59132821 single base substitution G T synonymous_variant A640A 1920C>A STAD-US 1 59139300 59139300 single base substitution C T downstream_gene_variant STAD-US 1 59139300 59139300 single base substitution C T exon_variant STAD-US 1 59139300 59139300 single base substitution C T missense_variant R506Q 1517G>A STAD-US 1 59154730 59154730 single base substitution C A downstream_gene_variant STAD-US 1 59154730 59154730 single base substitution C A exon_variant STAD-US 1 59154730 59154730 single base substitution C A intron_variant STAD-US 1 59154730 59154730 single base substitution C A stop_gained E127* 379G>T STAD-US 1 59156023 59156023 deletion of <=200bp T - downstream_gene_variant STAD-US 1 59156023 59156023 deletion of <=200bp T - exon_variant STAD-US 1 59156023 59156023 deletion of <=200bp T - frameshift_variant K95 STAD-US 1 59156023 59156023 deletion of <=200bp T - upstream_gene_variant THCA-SA 1 59127086 59127086 single base substitution G A exon_variant THCA-SA 1 59127086 59127086 single base substitution G A synonymous_variant L754L 2262C>T UCEC-US 1 59125684 59125684 single base substitution C A exon_variant UCEC-US 1 59125684 59125684 single base substitution C A missense_variant K824N 2472G>T UCEC-US 1 59131183 59131183 single base substitution C T exon_variant UCEC-US 1 59131183 59131183 single base substitution C T missense_variant D718N 2152G>A UCEC-US 1 59132739 59132739 single base substitution G A exon_variant UCEC-US 1 59132739 59132739 single base substitution G A stop_gained R668* 2002C>T UCEC-US 1 59133517 59133517 single base substitution A G splice_donor_variant UCEC-US 1 59134352 59134352 single base substitution C A intron_variant UCEC-US 1 59134352 59134352 single base substitution C A missense_variant E573D 1719G>T UCEC-US 1 59134352 59134352 single base substitution C A splice_region_variant UCEC-US 1 59147839 59147839 single base substitution C A downstream_gene_variant UCEC-US 1 59147839 59147839 single base substitution C A exon_variant UCEC-US 1 59147839 59147839 single base substitution C A stop_gained E293* 877G>T UCEC-US 1 59147839 59147839 single base substitution C A upstream_gene_variant UCEC-US 1 59147935 59147935 single base substitution C A downstream_gene_variant UCEC-US 1 59147935 59147935 single base substitution C A exon_variant UCEC-US 1 59147935 59147935 single base substitution C A stop_gained E261* 781G>T UCEC-US 1 59147935 59147935 single base substitution C A upstream_gene_variant UCEC-US 1 59154778 59154778 single base substitution G A downstream_gene_variant UCEC-US 1 59154778 59154778 single base substitution G A exon_variant UCEC-US 1 59154778 59154778 single base substitution G A intron_variant UCEC-US 1 59154778 59154778 single base substitution G A missense_variant P111S 331C>T UCEC-US 1 59155904 59155904 single base substitution T G downstream_gene_variant UCEC-US 1 59155904 59155904 single base substitution T G exon_variant UCEC-US 1 59155904 59155904 single base substitution T G intron_variant UCEC-US 1 59155904 59155904 single base substitution T G missense_variant K105T 314A>C UCEC-US 1 59155904 59155904 single base substitution T G upstream_gene_variant UCEC-US 1 59158571 59158571 single base substitution C A exon_variant UCEC-US 1 59158571 59158571 single base substitution C A missense_variant E60D 180G>T UCEC-US 1 59158571 59158571 single base substitution C A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 49 COSM146527 c.2473G>A p.E825K Substitution - Missense 1:58660011-58660011 - TCGA-FS-A1Z3-06 COSM3491344 c.729T>C p.S243S Substitution - coding silent 1:58682315-58682315 - CN-AML-08-T COSM3751324 c.1275A>G p.P425P Substitution - coding silent 1:58677041-58677041 - HCC078T COSM5806306 c.1152T>C p.N384N Substitution - coding silent 1:58681892-58681892 - TCGA-ER-A19M-06 COSM3491341 c.1993C>T p.P665S Substitution - Missense 1:58667076-58667076 - 55 COSM146528 c.598T>A p.C200S Substitution - Missense 1:58682446-58682446 - S00472 COSM313084 c.169A>G p.I57V Substitution - Missense 1:58692910-58692910 - TCGA-BR-8680-01 COSM911132 c.2472G>T p.K824N Substitution - Missense 1:58660012-58660012 - TCGA-D3-A51R-06 COSM3491345 c.544C>T p.H182Y Substitution - Missense 1:58682500-58682500 - 587336 COSM1216515 c.839T>C p.L280P Substitution - Missense 1:58682205-58682205 - T3152 COSM4705261 c.216_218delAGA p.E73delE Deletion - In frame 1:58692861-58692863 - WA16 COSM240806 c.1001A>G p.D334G Substitution - Missense 1:58682043-58682043 - 12T COSM3711373 c.1019C>T p.S340F Substitution - Missense 1:58682025-58682025 - cSCCP1 COSM133941 c.49G>A p.A17T Substitution - Missense 1:58700004-58700004 - HCC127T COSM5822793 c.1842+4A>T p.? Unknown 1:58667843-58667843 - 39 COSM146527 c.2473G>A p.E825K Substitution - Missense 1:58660011-58660011 - TCGA-EI-6917-01 COSM3419351 c.37G>A p.D13N Substitution - Missense 1:58700016-58700016 - SC_9022 COSM5572824 c.2256C>G p.Y752* Substitution - Nonsense 1:58661420-58661420 - PDA_084 COSM5002640 c.958A>G p.I320V Substitution - Missense 1:58682086-58682086 - 250LT COSM146527 c.2473G>A p.E825K Substitution - Missense 1:58660011-58660011 - TCGA-18-4083-01 COSM681635 c.1775A>T p.H592L Substitution - Missense 1:58667914-58667914 - TCGA-BS-A0TC-01 COSM911141 c.314A>C p.K105T Substitution - Missense 1:58690232-58690232 - ML_63_T_01 COSM5038058 c.1319G>A p.C440Y Substitution - Missense 1:58676997-58676997 - TCGA-D1-A16I-01 COSM911135 c.1848T>C p.C616C Substitution - coding silent 1:58667221-58667221 - 66 COSM146527 c.2473G>A p.E825K Substitution - Missense 1:58660011-58660011 - TCGA-HU-A4GX-01 COSM4009101 c.2085T>C p.Y695Y Substitution - coding silent 1:58665578-58665578 - TCGA-AG-A002-01 COSM262278 c.13G>T p.E5* Substitution - Nonsense 1:58700040-58700040 - S02322 COSM5691110 c.2325G>A p.Q775Q Substitution - coding silent 1:58661173-58661173 - CN-AML-NR-08-Dx COSM3751324 c.1275A>G p.P425P Substitution - coding silent 1:58677041-58677041 - TCGA-AM-5820-01 COSM3751325 c.790A>G p.T264A Substitution - Missense 1:58682254-58682254 - TCGA-BR-8487-01 COSM4009099 c.2368A>G p.N790D Substitution - Missense 1:58660116-58660116 - 106T COSM1725212 c.979G>C p.D327H Substitution - Missense 1:58682065-58682065 - B83-Tumor COSM3930832 c.1783A>G p.M595V Substitution - Missense 1:58667906-58667906 - 49M COSM5592036 c.2415C>T p.F805F Substitution - coding silent 1:58660069-58660069 - 2171669 COSM4423251 c.1985A>G p.D662G Substitution - Missense 1:58667084-58667084 - B65-Tumor COSM1748534 c.1782T>C p.S594S Substitution - coding silent 1:58667907-58667907 - SNUH_G76_S1 COSM146527 c.2473G>A p.E825K Substitution - Missense 1:58660011-58660011 - TCGA-AX-A0J0-01 COSM911132 c.2472G>T p.K824N Substitution - Missense 1:58660012-58660012 - YUROG COSM5381316 c.1754delT p.L585fs*1 Deletion - Frameshift 1:58668645-58668645 - 585276 COSM321914 c.98A>G p.Q33R Substitution - Missense 1:58695178-58695178 - T3174 COSM4705257 c.2237G>A p.R746K Substitution - Missense 1:58661439-58661439 - TCGA-D1-A17Q-01 COSM911136 c.1842+2T>C p.? Unknown 1:58667845-58667845 - SNUH_G76_S1 COSM146528 c.598T>A p.C200S Substitution - Missense 1:58682446-58682446 - T2269 COSM4705260 c.415A>C p.R139R Substitution - coding silent 1:58685236-58685236 - 55 COSM146527 c.2473G>A p.E825K Substitution - Missense 1:58660011-58660011 - CPCG0183-P2 COSM146528 c.598T>A p.C200S Substitution - Missense 1:58682446-58682446 - PT17_1 COSM5898728 c.1664C>T p.S555L Substitution - Missense 1:58669036-58669036 - TCGA-26-5132 COSM2156911 c.1441G>A p.D481N Substitution - Missense 1:58675530-58675530 - TCGA-BR-6802-01 COSM4009102 c.1920C>A p.A640A Substitution - coding silent 1:58667149-58667149 - Pat_41_B COSM5847080 c.1340G>A p.G447E Substitution - Missense 1:58676976-58676976 - T3724 COSM4705256 c.2274C>T p.S758S Substitution - coding silent 1:58661224-58661224 - TCGA-AG-A002-01 COSM262277 c.1378A>C p.N460H Substitution - Missense 1:58676938-58676938 - LIM2551 COSM2237284 c.1201C>T p.R401C Substitution - Missense 1:58681843-58681843 - TCGA-DK-A1AA-01 COSM1296614 c.279T>A p.D93E Substitution - Missense 1:58690357-58690357 - SNUH_G45_S1 COSM3997614 c.2165-10G>A p.? Unknown 1:58661521-58661521 - ccRCC-49 COSM1662981 c.273A>C p.E91D Substitution - Missense 1:58690363-58690363 - TCGA-EI-6917-01 COSM3419350 c.1057A>C p.N353H Substitution - Missense 1:58681987-58681987 - TCGA-BH-A0B6-01 COSM3805650 c.1311G>A p.L437L Substitution - coding silent 1:58677005-58677005 - 41T COSM3711374 c.827C>T p.S276F Substitution - Missense 1:58682217-58682217 - TCGA-D9-A6EC-06 COSM4405309 c.2476T>A p.L826M Substitution - Missense 1:58660008-58660008 - T2269 COSM4705259 c.995T>C p.I332T Substitution - Missense 1:58682049-58682049 - HCT15 COSM1667582 c.1301G>A p.R434H Substitution - Missense 1:58677015-58677015 - TCGA-D3-A51G-06 COSM3491343 c.940C>T p.Q314* Substitution - Nonsense 1:58682104-58682104 - CHEWS007 COSM4577473 c.219-1G>A p.? Unknown 1:58690418-58690418 - GC8_T COSM146528 c.598T>A p.C200S Substitution - Missense 1:58682446-58682446 - TCGA-BR-4361-01 COSM4009103 c.1517G>A p.R506Q Substitution - Missense 1:58673628-58673628 - HN_00190 COSM124647 c.2371T>G p.C791G Substitution - Missense 1:58660113-58660113 - TCGA-B5-A0JY-01 COSM911142 c.180G>T p.E60D Substitution - Missense 1:58692899-58692899 - GC8_T COSM146527 c.2473G>A p.E825K Substitution - Missense 1:58660011-58660011 - TCGA-E2-A573-01 COSM3805649 c.2269A>G p.S757G Substitution - Missense 1:58661407-58661407 - 587304 COSM1216513 c.274G>T p.D92Y Substitution - Missense 1:58690362-58690362 - 587376 COSM1216517 c.1693A>G p.N565D Substitution - Missense 1:58669007-58669007 - TCGA-EE-A2MS-06 COSM3491339 c.2292C>T p.I764I Substitution - coding silent 1:58661206-58661206 - TCGA-AG-4005-01 COSM289381 c.246G>A p.P82P Substitution - coding silent 1:58690390-58690390 - TCGA-C5-A1BK-01 COSM1725212 c.979G>C p.D327H Substitution - Missense 1:58682065-58682065 - PD4106a COSM162769 c.701C>T p.S234F Substitution - Missense 1:58682343-58682343 - TCGA-DK-A3IM-01 COSM1296613 c.2234C>A p.T745K Substitution - Missense 1:58661442-58661442 - 39 COSM146528 c.598T>A p.C200S Substitution - Missense 1:58682446-58682446 - TCGA-A5-A0GB-01 COSM911137 c.1719G>T p.E573D Substitution - Missense 1:58668680-58668680 - CN-AML-08-T COSM3751325 c.790A>G p.T264A Substitution - Missense 1:58682254-58682254 - 12T COSM108647 c.2296C>T p.R766C Substitution - Missense 1:58661202-58661202 - 3N21-VS-3T21 COSM4979325 c.1476C>T p.A492A Substitution - coding silent 1:58675495-58675495 - PCSI_0594_Pa_P_526 COSM5760968 c.2200G>A p.E734K Substitution - Missense 1:58661476-58661476 - 250LT COSM146528 c.598T>A p.C200S Substitution - Missense 1:58682446-58682446 - TCGA-BP-5007-01 COSM464811 c.2475A>T p.E825D Substitution - Missense 1:58660009-58660009 - ESCC_55 COSM5631638 c.179A>G p.E60G Substitution - Missense 1:58692900-58692900 - TCGA-HC-A4ZV-01 COSM3671803 c.867T>A p.L289L Substitution - coding silent 1:58682177-58682177 - TCGA-EK-A2PG-01 COSM4819850 c.31G>A p.E11K Substitution - Missense 1:58700022-58700022 - TCGA-06-2557 COSM2152525 c.2012A>G p.D671G Substitution - Missense 1:58667057-58667057 - 262LT COSM146528 c.598T>A p.C200S Substitution - Missense 1:58682446-58682446 - TCGA-CG-4442-01 COSM4009100 c.2300G>A p.R767Q Substitution - Missense 1:58661198-58661198 - SNU-175 COSM2237275 c.1479G>A p.Q493Q Substitution - coding silent 1:58675492-58675492 - OSCC-GB_00120111 COSM3711373 c.1019C>T p.S340F Substitution - Missense 1:58682025-58682025 - 3 COSM1715941 c.1462G>T p.A488S Substitution - Missense 1:58675509-58675509 - BN23T COSM1602581 c.118T>C p.S40P Substitution - Missense 1:58695158-58695158 - TCGA-G4-6586-01 COSM1343685 c.921delA p.K307fs*5 Deletion - Frameshift 1:58682123-58682123 - BD173T COSM5505671 c.1372G>A p.A458T Substitution - Missense 1:58676944-58676944 - TCGA-AG-A02N-01 COSM2237271 c.1701delT p.F567fs*11 Deletion - Frameshift 1:58668999-58668999 - TCGA-EI-6917-01 COSM3419349 c.2090G>A p.R697Q Substitution - Missense 1:58665573-58665573 - TCGA-AZ-6601-01 COSM535865 c.1565C>T p.T522M Substitution - Missense 1:58673580-58673580 - Au4 COSM5604189 c.1424A>T p.D475V Substitution - Missense 1:58675547-58675547 - tumor_4163639 COSM1160934 c.2346G>A p.R782R Substitution - coding silent 1:58660138-58660138 - 418 COSM1742418 c.2455G>A p.E819K Substitution - Missense 1:58660029-58660029 - B65 COSM1748534 c.1782T>C p.S594S Substitution - coding silent 1:58667907-58667907 - HCC061T COSM5805647 c.1445G>T p.R482I Substitution - Missense 1:58675526-58675526 - HCT-15 COSM1667582 c.1301G>A p.R434H Substitution - Missense 1:58677015-58677015 - PT40 COSM5923533 c.321-7C>T p.? Unknown 1:58689123-58689123 - TCGA-DK-A1A3-01 COSM414829 c.1365G>A p.L455L Substitution - coding silent 1:58676951-58676951 - TCGA-AP-A059-01 COSM911134 c.2002C>T p.R668* Substitution - Nonsense 1:58667067-58667067 - TCGA-EE-A3AF-06 COSM3491342 c.1183C>T p.P395S Substitution - Missense 1:58681861-58681861 - BN23 COSM1602581 c.118T>C p.S40P Substitution - Missense 1:58695158-58695158 - T39 COSM5342667 c.1543G>T p.A515S Substitution - Missense 1:58673602-58673602 - TCGA-BQ-7053-01 COSM3985158 c.2476T>C p.L826L Substitution - coding silent 1:58660008-58660008 - TCGA-26-5132-01 COSM2156911 c.1441G>A p.D481N Substitution - Missense 1:58675530-58675530 - TCGA-37-4141-01 COSM681634 c.841C>G p.Q281E Substitution - Missense 1:58682203-58682203 - T3262 COSM4705258 c.1694A>T p.N565I Substitution - Missense 1:58669006-58669006 - TCGA-D1-A103-01 COSM911133 c.2152G>A p.D718N Substitution - Missense 1:58665511-58665511 - TCGA-BS-A0UV-01 COSM911139 c.781G>T p.E261* Substitution - Nonsense 1:58682263-58682263 - LP6005409-DNA_C01 COSM5951832 c.297-7G>T p.? Unknown 1:58690256-58690256 - XHDG22 COSM4768948 c.171C>T p.I57I Substitution - coding silent 1:58692908-58692908 - 2334202 COSM321915 c.14A>T p.E5V Substitution - Missense 1:58700039-58700039 - 66 COSM146528 c.598T>A p.C200S Substitution - Missense 1:58682446-58682446 - TCGA-D1-A17Q-01 COSM911138 c.877G>T p.E293* Substitution - Nonsense 1:58682167-58682167 - MT-260-T2 COSM5651415 c.2223A>G p.V741V Substitution - coding silent 1:58661453-58661453 - S00472 COSM313084 c.169A>G p.I57V Substitution - Missense 1:58692910-58692910 - TCGA-AD-6889-01 COSM1343686 c.665_667delAAG p.E222delE Deletion - In frame 1:58682377-58682379 - 587234 COSM1216516 c.1555G>T p.E519* Substitution - Nonsense 1:58673590-58673590 - 251 COSM1741889 c.2216G>A p.G739E Substitution - Missense 1:58661460-58661460 - TCGA-EE-A3AG-06 COSM2237289 c.923C>T p.S308L Substitution - Missense 1:58682121-58682121 - 587222 COSM1216514 c.670G>T p.D224Y Substitution - Missense 1:58682374-58682374 - TCGA-06-2557-01 COSM2152525 c.2012A>G p.D671G Substitution - Missense 1:58667057-58667057 - TCGA-FW-A3R5-06 COSM108647 c.2296C>T p.R766C Substitution - Missense 1:58661202-58661202 - TCGA-A6-6141-01 COSM1343684 c.2232G>T p.K744N Substitution - Missense 1:58661444-58661444 - pfg053T COSM4747336 c.180_215del36 p.N61_E72del12 Deletion - In frame 1:58692864-58692899 - TCGA-EE-A3JA-06 COSM3491340 c.2098C>T p.P700S Substitution - Missense 1:58665565-58665565 - Sample_1 COSM5021282 c.69-6T>C p.? Unknown 1:58695213-58695213 - ESCC_38 COSM4705259 c.995T>C p.I332T Substitution - Missense 1:58682049-58682049 - CN-AML-NR-08-Dx COSM3751325 c.790A>G p.T264A Substitution - Missense 1:58682254-58682254 - TCGA-A5-A0GV-01 COSM911140 c.331C>T p.P111S Substitution - Missense 1:58689106-58689106 - TCGA-AA-A010-01 COSM283083 c.498+5G>A p.? Unknown 1:58685148-58685148 - TCGA-BH-A18G-01 COSM2237295 c.285delA p.K95fs*3 Deletion - Frameshift 1:58690351-58690351 - 2497771 COSM5750373 c.1901C>A p.P634H Substitution - Missense 1:58667168-58667168 - PD9001a COSM5772495 c.201A>G p.K67K Substitution - coding silent 1:58692878-58692878 - OSCC-GB_00410111 COSM3711374 c.827C>T p.S276F Substitution - Missense 1:58682217-58682217 - TCGA-BR-8680-01 COSM4009104 c.379G>T p.E127* Substitution - Nonsense 1:58689058-58689058 - 3N25-VS-3T25 COSM4979882 c.942G>C p.Q314H Substitution - Missense 1:58682102-58682102 - PTC-7C COSM3751325 c.790A>G p.T264A Substitution - Missense 1:58682254-58682254 - TCGA-BF-A1PX-01 COSM4905206 c.1529G>A p.G510E Substitution - Missense 1:58673616-58673616 - SW1116 COSM2237287 c.1126G>C p.E376Q Substitution - Missense 1:58681918-58681918 - 262LT COSM146527 c.2473G>A p.E825K Substitution - Missense 1:58660011-58660011 - TCGA-AM-5820-01 COSM3751324 c.1275A>G p.P425P Substitution - coding silent 1:58677041-58677041 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.605446;Hs.605448;Hs.605449;Hs.605451;Hs.605452;Hs.605453;Hs.605454;Hs.605455;Hs.605457;Hs.605458;Hs.605459;Hs.605463;Hs.605464;Hs.605465;Hs.605466;Hs.605467;Hs.605468;Hs.605469;Hs.605470;Hs.605471;Hs.605472;Hs.605473;Hs.605474;Hs.605477;Hs.605479;Hs.605480;Hs.605481;Hs.605482;Hs.605483;Hs.605484;Hs.605485;Hs.605486;Hs.605487;Hs.605488;Hs.605491;Hs.605492;Hs.605494;Hs.605495;Hs.605497;Hs.605499;Hs.605500;Hs.605501;Hs.605502;Hs.605504;Hs.605505;Hs.605506;Hs.605507;Hs.605508;Hs.605509;Hs.605510;Hs.605511;Hs.605512;Hs.605514;Hs.605516;Hs.605517;Hs.605520;Hs.605521;Hs.605522;Hs.605526;Hs.605528;Hs.605529;Hs.605531;Hs.605532;Hs.605533;Hs.605534;Hs.605536;Hs.605537;Hs.605538;Hs.605540;Hs.605541;Hs.605542;Hs.605543;Hs.605544;Hs.605546;Hs.605547;Hs.605549;Hs.605550;Hs.605551;Hs.605552;Hs.605553;Hs.605554;Hs.605556;Hs.605557;Hs.605558;Hs.605559;Hs.605561;Hs.605563;Hs.605564;Hs.605565;Hs.605566;Hs.605567;Hs.605569;Hs.605570;Hs.605571;Hs.605572;Hs.605575;Hs.605577;Hs.605578;Hs.605579;Hs.605580;Hs.605582;Hs.605583;Hs.605585;Hs.605586;Hs.605587;Hs.605588;Hs.605590;Hs.605591;Hs.605593;Hs.605594;Hs.605596;Hs.605597;Hs.605598;Hs.605599;Hs.605600;Hs.605601;Hs.605602;Hs.605604;Hs.605606;Hs.605607;Hs.605608;Hs.605609;Hs.605610;Hs.605611;Hs.605612;Hs.605614;Hs.605617;Hs.605620;Hs.605621;Hs.605622;Hs.605623;Hs.605624;Hs.605625;Hs.605627;Hs.605628;Hs.605629;Hs.605630;Hs.605632;Hs.605633;Hs.605634;Hs.605635;Hs.605636;Hs.605637;Hs.605638;Hs.605640;Hs.605641;Hs.605642;Hs.605643;Hs.605644;Hs.605648; 1p32.1 612176

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.C791G c.2371T>G 1 59125785 HNSC A G 3-UTRSNV . c.2484+3322T>C 1 59122350 HC A G Synonymous p.S243S c.729T>C 1 59147987 CM A T IntronicSNV . c.1260-1870T>A 1 59144598 CLL A T Missense p.D93E c.279T>A 1 59156029 BLCA A T Synonymous p.L289L c.867T>A 1 59147849 PRAD A T Synonymous p.S241S c.723T>A 1 59147993 CM C A Missense p.E573D c.1719G>T 1 59134352 UCEC C A Missense p.G192W c.574G>T 1 59148142 CM C T Missense p.D220N c.658G>A 1 59148058 HNSC C T Missense p.D334N c.1000G>A 1 59147716 HNSC C T Missense p.D481N c.1441G>A 1 59141202 GBM C T Missense p.G510E c.1529G>A 1 59139288 CM CT - SpliceDonorDeletion . c.1842_1842+1delAG 1 59133518 LUAD C T Synonymous p.L455L c.1365G>A 1 59142623 BLCA C T Synonymous p.P82P c.246G>A 1 59156062 COREAD C T Synonymous p.R782R c.2346G>A 1 59125810 DLBCL CTTTTCTTTTTTTT - IntronicDeletion . c.499-148_499-135delAAAAAAAAGAAAAG 1 59148352 CM G A Missense p.A6V c.17C>T 1 59165708 HNSC G A Missense p.P111S c.331C>T 1 59154778 UCEC G A Missense p.P395S c.1183C>T 1 59147533 CM G A Missense p.P558S c.1672C>T 1 59134700 CM G A Missense p.P700S c.2098C>T 1 59131237 CM G A Missense p.S234F c.701C>T 1 59148015 BRCA G A Missense p.S308L c.923C>T 1 59147793 CM G A Missense p.T522M c.1565C>T 1 59139252 LUAD G A Synonymous p.I57I c.171C>T 1 59158580 CM G A Synonymous p.I764I c.2292C>T 1 59126878 CM G A Synonymous p.L296L c.886C>T 1 59147830 HNSC G C IntronicSNV . c.499-38C>G 1 59148255 STAD G C Missense p.Q281E c.841C>G 1 59147875 LUSC G T Missense p.T745K c.2234C>A 1 59127114 BLCA G T Synonymous p.A640A c.1920C>A 1 59132821 STAD T A Missense p.E5V c.14A>T 1 59165711 SCLC T A Missense p.E825D c.2475A>T 1 59125681 RCCC T A Missense p.H592L c.1775A>T 1 59133586 LUSC T A Missense p.T236S c.706A>T 1 59148010 STAD T C Missense p.D671G c.2012A>G 1 59132729 GBM T C Missense p.I57V c.169A>G 1 59158582 SCLC T C Missense p.Q33R c.98A>G 1 59160850 SCLC T C Missense p.Y695C c.2084A>G 1 59131251 HNSC T G Missense p.K105T c.314A>C 1 59155904 UCEC