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 23 107084381 107084381 + Nonsense_Mutation SNP T T A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chrX:107084381T>A c.486T>A c.(484-486)tgT>tgA p.C162* BLCA 23 107084399 107084399 + Silent SNP C C T TCGA-HQ-A5NE-01A-12D-A289-08 TCGA-HQ-A5NE-10A-01D-A289-08 g.chrX:107084399C>T c.504C>T c.(502-504)gcC>gcT p.A168A BLCA 23 107084505 107084505 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chrX:107084505A>G c.610A>G c.(610-612)Aac>Gac p.N204D BLCA 23 107084615 107084615 + Splice_Site SNP G G T TCGA-5N-A9KM-01A-11D-A42E-08 TCGA-5N-A9KM-10A-01D-A42H-08 g.chrX:107084615G>T c.720G>T c.(718-720)aaG>aaT p.K240N BLCA 23 107169341 107169341 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chrX:107169341G>A c.1615G>A c.(1615-1617)Gat>Aat p.D539N BLCA 23 107169434 107169434 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chrX:107169434G>C c.1708G>C c.(1708-1710)Gag>Cag p.E570Q BRCA 23 107167684 107167684 + Missense_Mutation SNP T T G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chrX:107167684T>G c.1547T>G c.(1546-1548)aTa>aGa p.I516R BRCA 23 107169922 107169922 + Nonsense_Mutation SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 g.chrX:107169922C>G c.1827C>G c.(1825-1827)taC>taG p.Y609* BRCA 23 107170052 107170052 + Missense_Mutation SNP C C G TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 g.chrX:107170052C>G c.1957C>G c.(1957-1959)Cgt>Ggt p.R653G CESC 23 107084146 107084146 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 g.chrX:107084146C>G c.251C>G c.(250-252)tCg>tGg p.S84W CESC 23 107148838 107148839 + Frame_Shift_Ins INS - - A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chrX:107148838_107148839insA c.1055_1056insA c.(1054-1059)gcaaaafs p.AK352fs COAD 23 107084209 107084210 + Missense_Mutation DNP GC GC AA TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chrX:107084209_107084210GC>AA c.314_315GC>AA c.(313-315)cGC>cAA p.R105Q COAD 23 107084210 107084210 + Silent SNP C C A TCGA-CM-5344-01A-21D-1719-10 TCGA-CM-5344-10A-01D-1719-10 g.chrX:107084210C>A c.315C>A c.(313-315)cgC>cgA p.R105R COAD 23 107084275 107084275 + Missense_Mutation SNP G G T TCGA-AA-A01D-01A-01W-A00E-09 TCGA-AA-A01D-10A-01W-A00E-09 g.chrX:107084275G>T c.380G>T c.(379-381)aGg>aTg p.R127M COAD 23 107084414 107084414 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chrX:107084414G>T c.519G>T c.(517-519)aaG>aaT p.K173N COAD 23 107097885 107097885 + Missense_Mutation SNP A A G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chrX:107097885A>G c.767A>G c.(766-768)gAa>gGa p.E256G COAD 23 107148850 107148850 + Missense_Mutation SNP C C A TCGA-AA-3814-01A-01W-0900-09 TCGA-AA-3814-10A-01W-0900-09 g.chrX:107148850C>A c.1067C>A c.(1066-1068)gCt>gAt p.A356D COAD 23 107160962 107160962 + Silent SNP G G A TCGA-AA-3856-01A-01W-0900-09 TCGA-AA-3856-10A-01W-0900-09 g.chrX:107160962G>A c.1428G>A c.(1426-1428)gcG>gcA p.A476A COAD 23 107170080 107170080 + Missense_Mutation SNP A A G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chrX:107170080A>G c.1985A>G c.(1984-1986)aAc>aGc p.N662S COAD 23 107170238 107170238 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chrX:107170238C>T c.2143C>T c.(2143-2145)Cgg>Tgg p.R715W COADREAD 23 107084209 107084210 + Missense_Mutation DNP GC GC AA TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chrX:107084209_107084210GC>AA c.314_315GC>AA c.(313-315)cGC>cAA p.R105Q COADREAD 23 107084210 107084210 + Silent SNP C C A TCGA-CM-5344-01A-21D-1719-10 TCGA-CM-5344-10A-01D-1719-10 g.chrX:107084210C>A c.315C>A c.(313-315)cgC>cgA p.R105R COADREAD 23 107084275 107084275 + Missense_Mutation SNP G G T TCGA-AA-A01D-01A-01W-A00E-09 TCGA-AA-A01D-10A-01W-A00E-09 g.chrX:107084275G>T c.380G>T c.(379-381)aGg>aTg p.R127M COADREAD 23 107084414 107084414 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chrX:107084414G>T c.519G>T c.(517-519)aaG>aaT p.K173N COADREAD 23 107097885 107097885 + Missense_Mutation SNP A A G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chrX:107097885A>G c.767A>G c.(766-768)gAa>gGa p.E256G COADREAD 23 107148850 107148850 + Missense_Mutation SNP C C A TCGA-AA-3814-01A-01W-0900-09 TCGA-AA-3814-10A-01W-0900-09 g.chrX:107148850C>A c.1067C>A c.(1066-1068)gCt>gAt p.A356D COADREAD 23 107160962 107160962 + Silent SNP G G A TCGA-AA-3856-01A-01W-0900-09 TCGA-AA-3856-10A-01W-0900-09 g.chrX:107160962G>A c.1428G>A c.(1426-1428)gcG>gcA p.A476A COADREAD 23 107170080 107170080 + Missense_Mutation SNP A A G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chrX:107170080A>G c.1985A>G c.(1984-1986)aAc>aGc p.N662S COADREAD 23 107170238 107170238 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chrX:107170238C>T c.2143C>T c.(2143-2145)Cgg>Tgg p.R715W DLBC 23 107147248 107147248 + Missense_Mutation SNP A A G TCGA-GS-A9U3-01A-11D-A38X-10 TCGA-GS-A9U3-10A-01D-A38X-10 g.chrX:107147248A>G c.877A>G c.(877-879)Atc>Gtc p.I293V ESCA 23 107084038 107084038 + Missense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 g.chrX:107084038G>A c.143G>A c.(142-144)aGc>aAc p.S48N ESCA 23 107148759 107148759 + Missense_Mutation SNP C C A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 g.chrX:107148759C>A c.976C>A c.(976-978)Ctt>Att p.L326I ESCA 23 107159335 107159335 + Missense_Mutation SNP C C A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 g.chrX:107159335C>A c.1177C>A c.(1177-1179)Cta>Ata p.L393I ESCA 23 107170088 107170088 + Missense_Mutation SNP C C A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 g.chrX:107170088C>A c.1993C>A c.(1993-1995)Ctg>Atg p.L665M GBM 23 107084129 107084129 + Silent SNP C C T TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 g.chrX:107084129C>T c.234C>T c.(232-234)acC>acT p.T78T GBM 23 107084402 107084402 + Silent SNP G G A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 g.chrX:107084402G>A c.507G>A c.(505-507)acG>acA p.T169T GBM 23 107160914 107160914 + Missense_Mutation SNP G G T TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 g.chrX:107160914G>T c.1380G>T c.(1378-1380)gaG>gaT p.E460D GBM 23 107160962 107160962 + Silent SNP G G A TCGA-76-6663-01A-11D-1845-08 TCGA-76-6663-10A-01D-1845-08 g.chrX:107160962G>A c.1428G>A c.(1426-1428)gcG>gcA p.A476A GBMLGG 23 107084062 107084062 + Missense_Mutation SNP G G A TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 g.chrX:107084062G>A c.167G>A c.(166-168)cGc>cAc p.R56H GBMLGG 23 107084129 107084129 + Silent SNP C C T TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 g.chrX:107084129C>T c.234C>T c.(232-234)acC>acT p.T78T GBMLGG 23 107084269 107084269 + Missense_Mutation SNP C C G TCGA-WH-A86K-01A-11D-A36O-08 TCGA-WH-A86K-10A-01D-A367-08 g.chrX:107084269C>G c.374C>G c.(373-375)aCt>aGt p.T125S GBMLGG 23 107084365 107084365 + Missense_Mutation SNP G G A TCGA-DH-5143-01A-01D-1468-08 TCGA-DH-5143-10A-01D-1468-08 g.chrX:107084365G>A c.470G>A c.(469-471)tGt>tAt p.C157Y GBMLGG 23 107084402 107084402 + Silent SNP G G A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 g.chrX:107084402G>A c.507G>A c.(505-507)acG>acA p.T169T GBMLGG 23 107160914 107160914 + Missense_Mutation SNP G G T TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 g.chrX:107160914G>T c.1380G>T c.(1378-1380)gaG>gaT p.E460D GBMLGG 23 107160962 107160962 + Silent SNP G G A TCGA-76-6663-01A-11D-1845-08 TCGA-76-6663-10A-01D-1845-08 g.chrX:107160962G>A c.1428G>A c.(1426-1428)gcG>gcA p.A476A HNSC 23 107084402 107084402 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 g.chrX:107084402G>A c.507G>A c.(505-507)acG>acA p.T169T HNSC 23 107084609 107084609 + Silent SNP A A G TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 g.chrX:107084609A>G c.714A>G c.(712-714)aaA>aaG p.K238K HNSC 23 107097876 107097876 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 g.chrX:107097876G>C c.758G>C c.(757-759)cGc>cCc p.R253P HNSC 23 107148729 107148729 + Missense_Mutation SNP G G C TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chrX:107148729G>C c.946G>C c.(946-948)Gca>Cca p.A316P HNSC 23 107159287 107159287 + Missense_Mutation SNP G G C TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 g.chrX:107159287G>C c.1129G>C c.(1129-1131)Gat>Cat p.D377H HNSC 23 107169397 107169397 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 g.chrX:107169397G>A c.1671G>A c.(1669-1671)gaG>gaA p.E557E HNSC 23 107169922 107169922 + Nonsense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 g.chrX:107169922C>A c.1827C>A c.(1825-1827)taC>taA p.Y609* HNSC 23 107170195 107170195 + Silent SNP C C A TCGA-CV-5431-01A-01D-1512-08 TCGA-CV-5431-11A-01D-1512-08 g.chrX:107170195C>A c.2100C>A c.(2098-2100)atC>atA p.I700I LGG 23 107084062 107084062 + Missense_Mutation SNP G G A TCGA-TM-A7C5-01A-11D-A32B-08 TCGA-TM-A7C5-10A-01D-A329-08 g.chrX:107084062G>A c.167G>A c.(166-168)cGc>cAc p.R56H LGG 23 107084269 107084269 + Missense_Mutation SNP C C G TCGA-WH-A86K-01A-11D-A36O-08 TCGA-WH-A86K-10A-01D-A367-08 g.chrX:107084269C>G c.374C>G c.(373-375)aCt>aGt p.T125S LGG 23 107084365 107084365 + Missense_Mutation SNP G G A TCGA-DH-5143-01A-01D-1468-08 TCGA-DH-5143-10A-01D-1468-08 g.chrX:107084365G>A c.470G>A c.(469-471)tGt>tAt p.C157Y LIHC 23 107084012 107084012 + Frame_Shift_Del DEL C C - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chrX:107084012delC c.117delC c.(115-117)gacfs p.D39fs LIHC 23 107084301 107084301 + Nonsense_Mutation SNP C C T TCGA-FV-A3R3-01A-11D-A22F-10 TCGA-FV-A3R3-10A-01D-A22F-10 g.chrX:107084301C>T c.406C>T c.(406-408)Cga>Tga p.R136* LIHC 23 107097839 107097839 + Splice_Site SNP C C T TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chrX:107097839C>T c.721C>T c.(721-723)Caa>Taa p.Q241* LUAD 23 107084007 107084007 + Missense_Mutation SNP G G A TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chrX:107084007G>A c.112G>A c.(112-114)Gaa>Aaa p.E38K LUAD 23 107084257 107084257 + Missense_Mutation SNP G G A TCGA-55-8087-01A-11D-2238-08 TCGA-55-8087-10A-01D-2238-08 g.chrX:107084257G>A c.362G>A c.(361-363)cGc>cAc p.R121H LUAD 23 107084259 107084259 + Silent SNP C C A TCGA-J2-A4AD-01A-11D-A24D-08 TCGA-J2-A4AD-10A-01D-A24F-08 g.chrX:107084259C>A c.364C>A c.(364-366)Cgg>Agg p.R122R LUAD 23 107084310 107084310 + Missense_Mutation SNP T T G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 g.chrX:107084310T>G c.415T>G c.(415-417)Tgc>Ggc p.C139G LUAD 23 107084433 107084433 + Missense_Mutation SNP C C G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 g.chrX:107084433C>G c.538C>G c.(538-540)Cgc>Ggc p.R180G LUAD 23 107084478 107084478 + Missense_Mutation SNP T T A TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chrX:107084478T>A c.583T>A c.(583-585)Tgc>Agc p.C195S LUAD 23 107084577 107084577 + Nonsense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 g.chrX:107084577C>T c.682C>T c.(682-684)Cag>Tag p.Q228* LUAD 23 107159297 107159297 + Missense_Mutation SNP A A C TCGA-55-7995-01A-11D-2184-08 TCGA-55-7995-10A-01D-2184-08 g.chrX:107159297A>C c.1139A>C c.(1138-1140)gAa>gCa p.E380A LUAD 23 107160843 107160843 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 g.chrX:107160843C>A c.1309C>A c.(1309-1311)Cag>Aag p.Q437K LUAD 23 107167715 107167715 + Silent SNP T T C TCGA-55-8301-01A-11D-2284-08 TCGA-55-8301-10A-01D-2284-08 g.chrX:107167715T>C c.1578T>C c.(1576-1578)ccT>ccC p.P526P LUAD 23 107169377 107169377 + Missense_Mutation SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chrX:107169377A>T c.1651A>T c.(1651-1653)Aat>Tat p.N551Y LUAD 23 107169511 107169511 + Silent SNP G G T TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chrX:107169511G>T c.1785G>T c.(1783-1785)gtG>gtT p.V595V LUAD 23 107169959 107169959 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 g.chrX:107169959G>C c.1864G>C c.(1864-1866)Gcc>Ccc p.A622P LUAD 23 107170202 107170202 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 g.chrX:107170202G>T c.2107G>T c.(2107-2109)Ggc>Tgc p.G703C LUSC 23 107160757 107160757 + Missense_Mutation SNP G G T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chrX:107160757G>T c.1223G>T c.(1222-1224)cGa>cTa p.R408L LUSC 23 107169340 107169340 + Missense_Mutation SNP G G T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 g.chrX:107169340G>T c.1614G>T c.(1612-1614)ttG>ttT p.L538F OV 23 107084208 107084208 + Missense_Mutation SNP C C T TCGA-13-1501-01A-01W-0545-08 TCGA-13-1501-10A-01W-0546-08 g.chrX:107084208C>T c.313C>T c.(313-315)Cgc>Tgc p.R105C OV 23 107084583 107084583 + Missense_Mutation SNP G G A TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 g.chrX:107084583G>A c.688G>A c.(688-690)Gca>Aca p.A230T OV 23 107097870 107097870 + Missense_Mutation SNP T T A TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 g.chrX:107097870T>A c.752T>A c.(751-753)gTt>gAt p.V251D PAAD 23 107084366 107084366 + Silent SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chrX:107084366T>C c.471T>C c.(469-471)tgT>tgC p.C157C PAAD 23 107160956 107160956 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chrX:107160956C>T c.1422C>T c.(1420-1422)gcC>gcT p.A474A PAAD 23 107167644 107167644 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chrX:107167644C>T c.1507C>T c.(1507-1509)Ctc>Ttc p.L503F PRAD 23 107159358 107159358 + Splice_Site SNP A A G TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 g.chrX:107159358A>G c.1200A>G c.(1198-1200)acA>acG p.T400T SKCM 23 107084038 107084038 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chrX:107084038G>A c.143G>A c.(142-144)aGc>aAc p.S48N SKCM 23 107084242 107084242 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chrX:107084242C>T c.347C>T c.(346-348)tCc>tTc p.S116F SKCM 23 107084244 107084244 + Missense_Mutation SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chrX:107084244C>T c.349C>T c.(349-351)Cct>Tct p.P117S SKCM 23 107084245 107084245 + Missense_Mutation SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chrX:107084245C>T c.350C>T c.(349-351)cCt>cTt p.P117L SKCM 23 107084267 107084267 + Silent SNP G G A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 g.chrX:107084267G>A c.372G>A c.(370-372)agG>agA p.R124R SKCM 23 107084268 107084268 + Missense_Mutation SNP A A C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 g.chrX:107084268A>C c.373A>C c.(373-375)Act>Cct p.T125P SKCM 23 107147220 107147220 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chrX:107147220G>A c.849G>A c.(847-849)atG>atA p.M283I SKCM 23 107169345 107169345 + Missense_Mutation SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chrX:107169345C>T c.1619C>T c.(1618-1620)cCc>cTc p.P540L SKCM 23 107169963 107169963 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chrX:107169963C>T c.1868C>T c.(1867-1869)tCc>tTc p.S623F SKCM 23 107170186 107170186 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chrX:107170186C>T c.2091C>T c.(2089-2091)tcC>tcT p.S697S SKCM 23 107170226 107170226 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 g.chrX:107170226G>A c.2131G>A c.(2131-2133)Gat>Aat p.D711N

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US X 107084381 107084381 single base substitution T A stop_gained C142* 426T>A BLCA-US X 107084381 107084381 single base substitution T A stop_gained C162* 486T>A BLCA-US X 107084505 107084505 single base substitution A G missense_variant N184D 550A>G BLCA-US X 107084505 107084505 single base substitution A G missense_variant N204D 610A>G BLCA-US X 107169341 107169341 single base substitution G A exon_variant BLCA-US X 107169341 107169341 single base substitution G A missense_variant D509N 1525G>A BLCA-US X 107169341 107169341 single base substitution G A missense_variant D539N 1615G>A BLCA-US X 107169434 107169434 single base substitution G C exon_variant BLCA-US X 107169434 107169434 single base substitution G C missense_variant E540Q 1618G>C BLCA-US X 107169434 107169434 single base substitution G C missense_variant E570Q 1708G>C BOCA-FR X 107135431 107135431 single base substitution C T intron_variant BRCA-EU X 107064146 107064146 single base substitution C A upstream_gene_variant BRCA-EU X 107064532 107064532 single base substitution C T upstream_gene_variant BRCA-EU X 107065669 107065669 single base substitution G A upstream_gene_variant BRCA-EU X 107067367 107067367 single base substitution T C upstream_gene_variant BRCA-EU X 107067506 107067506 single base substitution C G upstream_gene_variant BRCA-EU X 107069790 107069790 single base substitution G A intron_variant BRCA-EU X 107071067 107071067 single base substitution C T intron_variant BRCA-EU X 107071646 107071646 single base substitution A G intron_variant BRCA-EU X 107074860 107074860 single base substitution G A intron_variant BRCA-EU X 107076316 107076316 single base substitution C A intron_variant BRCA-EU X 107076538 107076538 single base substitution C A intron_variant BRCA-EU X 107076641 107076641 single base substitution T A intron_variant BRCA-EU X 107076661 107076661 single base substitution T A intron_variant BRCA-EU X 107077293 107077293 single base substitution G T intron_variant BRCA-EU X 107077302 107077302 single base substitution G A intron_variant BRCA-EU X 107078252 107078252 single base substitution C T intron_variant BRCA-EU X 107080070 107080070 single base substitution G A intron_variant BRCA-EU X 107080656 107080656 single base substitution G C intron_variant BRCA-EU X 107081129 107081129 single base substitution C T intron_variant BRCA-EU X 107081146 107081146 single base substitution T C intron_variant BRCA-EU X 107081555 107081555 single base substitution C G intron_variant BRCA-EU X 107081564 107081564 single base substitution C G intron_variant BRCA-EU X 107081854 107081854 single base substitution G C intron_variant BRCA-EU X 107082700 107082700 single base substitution C G intron_variant BRCA-EU X 107082991 107082991 single base substitution G T intron_variant BRCA-EU X 107083317 107083317 single base substitution C T intron_variant BRCA-EU X 107083627 107083627 single base substitution G A intron_variant BRCA-EU X 107083817 107083817 single base substitution G A intron_variant BRCA-EU X 107084419 107084419 single base substitution C G missense_variant P155R 464C>G BRCA-EU X 107084419 107084419 single base substitution C G missense_variant P175R 524C>G BRCA-EU X 107084988 107084988 single base substitution C T downstream_gene_variant BRCA-EU X 107084988 107084988 single base substitution C T intron_variant BRCA-EU X 107086048 107086048 single base substitution T A downstream_gene_variant BRCA-EU X 107086048 107086048 single base substitution T A intron_variant BRCA-EU X 107088265 107088265 single base substitution C T downstream_gene_variant BRCA-EU X 107088265 107088265 single base substitution C T intron_variant BRCA-EU X 107088466 107088466 single base substitution T G downstream_gene_variant BRCA-EU X 107088466 107088466 single base substitution T G intron_variant BRCA-EU X 107088849 107088849 single base substitution T G downstream_gene_variant BRCA-EU X 107088849 107088849 single base substitution T G intron_variant BRCA-EU X 107088915 107088915 single base substitution C A downstream_gene_variant BRCA-EU X 107088915 107088915 single base substitution C A intron_variant BRCA-EU X 107090326 107090326 single base substitution C A intron_variant BRCA-EU X 107090900 107090900 single base substitution A T intron_variant BRCA-EU X 107091749 107091749 single base substitution C G intron_variant BRCA-EU X 107094040 107094040 single base substitution G T intron_variant BRCA-EU X 107094238 107094238 single base substitution G A intron_variant BRCA-EU X 107096755 107096755 single base substitution C T intron_variant BRCA-EU X 107097527 107097527 single base substitution G A intron_variant BRCA-EU X 107097695 107097695 single base substitution T C intron_variant BRCA-EU X 107097727 107097727 single base substitution A T intron_variant BRCA-EU X 107101275 107101275 single base substitution C T intron_variant BRCA-EU X 107101823 107101823 single base substitution G C intron_variant BRCA-EU X 107102524 107102524 single base substitution A G intron_variant BRCA-EU X 107105261 107105261 single base substitution A G intron_variant BRCA-EU X 107105951 107105951 single base substitution A G intron_variant BRCA-EU X 107108409 107108409 single base substitution C T intron_variant BRCA-EU X 107109060 107109060 single base substitution G A intron_variant BRCA-EU X 107110920 107110920 single base substitution T C intron_variant BRCA-EU X 107111905 107111905 single base substitution C G intron_variant BRCA-EU X 107111977 107111977 single base substitution G C intron_variant BRCA-EU X 107112194 107112194 deletion of <=200bp T - intron_variant BRCA-EU X 107112970 107112970 single base substitution C G intron_variant BRCA-EU X 107113525 107113525 single base substitution T C intron_variant BRCA-EU X 107113688 107113688 deletion of <=200bp A - intron_variant BRCA-EU X 107113731 107113731 single base substitution A G intron_variant BRCA-EU X 107115952 107115952 single base substitution G A intron_variant BRCA-EU X 107116579 107116579 single base substitution G T intron_variant BRCA-EU X 107116628 107116628 single base substitution C G intron_variant BRCA-EU X 107116784 107116784 single base substitution C A intron_variant BRCA-EU X 107116988 107116988 single base substitution C T intron_variant BRCA-EU X 107118334 107118334 single base substitution G T intron_variant BRCA-EU X 107119685 107119685 single base substitution C A intron_variant BRCA-EU X 107120217 107120217 single base substitution G T intron_variant BRCA-EU X 107120283 107120283 single base substitution G T intron_variant BRCA-EU X 107120343 107120343 single base substitution G A intron_variant BRCA-EU X 107123298 107123298 single base substitution G T intron_variant BRCA-EU X 107123894 107123894 single base substitution G T intron_variant BRCA-EU X 107124151 107124151 single base substitution A G intron_variant BRCA-EU X 107124654 107124654 single base substitution C G intron_variant BRCA-EU X 107126020 107126020 single base substitution C T intron_variant BRCA-EU X 107127117 107127117 single base substitution C G intron_variant BRCA-EU X 107127799 107127799 single base substitution C G intron_variant BRCA-EU X 107128458 107128458 single base substitution C T intron_variant BRCA-EU X 107128904 107128904 single base substitution C G intron_variant BRCA-EU X 107129085 107129085 single base substitution C T intron_variant BRCA-EU X 107129816 107129816 single base substitution G C intron_variant BRCA-EU X 107131440 107131440 single base substitution T C intron_variant BRCA-EU X 107132178 107132178 deletion of <=200bp C - intron_variant BRCA-EU X 107132516 107132516 single base substitution T A intron_variant BRCA-EU X 107133427 107133427 single base substitution A C intron_variant BRCA-EU X 107134431 107134431 single base substitution G A intron_variant BRCA-EU X 107134603 107134603 single base substitution C G intron_variant BRCA-EU X 107135692 107135692 single base substitution T C intron_variant BRCA-EU X 107136878 107136878 single base substitution T A intron_variant BRCA-EU X 107138102 107138102 single base substitution A T intron_variant BRCA-EU X 107141095 107141095 single base substitution C A intron_variant BRCA-EU X 107142106 107142106 single base substitution G T intron_variant BRCA-EU X 107143384 107143384 single base substitution C G intron_variant BRCA-EU X 107144847 107144847 single base substitution C T intron_variant BRCA-EU X 107146144 107146144 single base substitution G A intron_variant BRCA-EU X 107146402 107146402 single base substitution T A intron_variant BRCA-EU X 107146479 107146479 single base substitution G T intron_variant BRCA-EU X 107147806 107147806 single base substitution G T intron_variant BRCA-EU X 107148526 107148526 single base substitution G T intron_variant BRCA-EU X 107149391 107149391 single base substitution A G intron_variant BRCA-EU X 107149804 107149804 single base substitution C G intron_variant BRCA-EU X 107151385 107151385 single base substitution A G intron_variant BRCA-EU X 107151533 107151533 single base substitution C T intron_variant BRCA-EU X 107152043 107152043 single base substitution G A intron_variant BRCA-EU X 107152625 107152625 single base substitution C T intron_variant BRCA-EU X 107154304 107154304 single base substitution G A intron_variant BRCA-EU X 107156312 107156312 single base substitution C G intron_variant BRCA-EU X 107156312 107156312 single base substitution C G upstream_gene_variant BRCA-EU X 107157233 107157233 single base substitution C G intron_variant BRCA-EU X 107157233 107157233 single base substitution C G upstream_gene_variant BRCA-EU X 107157729 107157729 single base substitution T A intron_variant BRCA-EU X 107157729 107157729 single base substitution T A upstream_gene_variant BRCA-EU X 107158173 107158173 single base substitution T C intron_variant BRCA-EU X 107158173 107158173 single base substitution T C upstream_gene_variant BRCA-EU X 107160674 107160674 single base substitution A G intron_variant BRCA-EU X 107160674 107160674 single base substitution A G upstream_gene_variant BRCA-EU X 107161244 107161244 single base substitution T C intron_variant BRCA-EU X 107161479 107161479 single base substitution C T intron_variant BRCA-EU X 107161505 107161505 single base substitution G C intron_variant BRCA-EU X 107162860 107162860 single base substitution C T intron_variant BRCA-EU X 107162907 107162907 single base substitution G A intron_variant BRCA-EU X 107163000 107163000 deletion of <=200bp T - intron_variant BRCA-EU X 107165183 107165183 single base substitution T C intron_variant BRCA-EU X 107165872 107165872 single base substitution G T intron_variant BRCA-EU X 107166779 107166779 single base substitution T C intron_variant BRCA-EU X 107166997 107166997 single base substitution G C intron_variant BRCA-EU X 107168126 107168126 single base substitution C T intron_variant BRCA-EU X 107168361 107168361 single base substitution C T intron_variant BRCA-EU X 107171279 107171279 insertion of <=200bp - A downstream_gene_variant BRCA-EU X 107172088 107172088 deletion of <=200bp T - downstream_gene_variant BRCA-EU X 107172265 107172265 single base substitution T A downstream_gene_variant BRCA-EU X 107172522 107172522 deletion of <=200bp A - downstream_gene_variant BRCA-EU X 107172550 107172550 single base substitution C G downstream_gene_variant BRCA-EU X 107173235 107173235 single base substitution A C downstream_gene_variant BRCA-EU X 107173812 107173812 single base substitution A T downstream_gene_variant BRCA-EU X 107173891 107173891 single base substitution T G downstream_gene_variant BRCA-FR X 107069125 107069125 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-FR X 107069125 107069125 single base substitution G A intron_variant BRCA-FR X 107069125 107069125 single base substitution G A upstream_gene_variant BRCA-FR X 107075933 107075933 single base substitution A G intron_variant BRCA-FR X 107080656 107080656 single base substitution G C intron_variant BRCA-FR X 107081555 107081555 single base substitution C G intron_variant BRCA-FR X 107081564 107081564 single base substitution C G intron_variant BRCA-FR X 107083627 107083627 single base substitution G A intron_variant BRCA-FR X 107089026 107089026 single base substitution G A downstream_gene_variant BRCA-FR X 107089026 107089026 single base substitution G A intron_variant BRCA-FR X 107096755 107096755 single base substitution C T intron_variant BRCA-FR X 107102524 107102524 single base substitution A G intron_variant BRCA-FR X 107110920 107110920 single base substitution T C intron_variant BRCA-FR X 107117089 107117089 single base substitution G A intron_variant BRCA-FR X 107118334 107118334 single base substitution G T intron_variant BRCA-FR X 107124563 107124563 single base substitution G T intron_variant BRCA-FR X 107125775 107125775 single base substitution T C intron_variant BRCA-FR X 107126020 107126020 single base substitution C T intron_variant BRCA-FR X 107142726 107142726 single base substitution G A intron_variant BRCA-FR X 107146144 107146144 single base substitution G A intron_variant BRCA-FR X 107152043 107152043 single base substitution G A intron_variant BRCA-FR X 107152625 107152625 single base substitution C T intron_variant BRCA-FR X 107156096 107156096 single base substitution C T intron_variant BRCA-FR X 107156096 107156096 single base substitution C T upstream_gene_variant BRCA-FR X 107156312 107156312 single base substitution C G intron_variant BRCA-FR X 107156312 107156312 single base substitution C G upstream_gene_variant BRCA-FR X 107160691 107160691 single base substitution G A intron_variant BRCA-FR X 107160691 107160691 single base substitution G A upstream_gene_variant BRCA-FR X 107162907 107162907 single base substitution G A intron_variant BRCA-FR X 107164726 107164726 single base substitution C T intron_variant BRCA-KR X 107148801 107148801 single base substitution C A missense_variant L340M 1018C>A BRCA-UK X 107064146 107064146 single base substitution C A upstream_gene_variant BRCA-UK X 107067367 107067367 single base substitution T C upstream_gene_variant BRCA-UK X 107079679 107079679 single base substitution C T intron_variant BRCA-UK X 107086232 107086232 single base substitution C T downstream_gene_variant BRCA-UK X 107086232 107086232 single base substitution C T intron_variant BRCA-UK X 107100974 107100974 single base substitution G A intron_variant BRCA-UK X 107134002 107134002 single base substitution C G intron_variant BRCA-UK X 107151084 107151084 single base substitution C T intron_variant BRCA-UK X 107151385 107151385 single base substitution A G intron_variant BRCA-UK X 107160641 107160641 single base substitution C T intron_variant BRCA-UK X 107160641 107160641 single base substitution C T upstream_gene_variant BRCA-US X 107167684 107167684 single base substitution T G exon_variant BRCA-US X 107167684 107167684 single base substitution T G missense_variant I486R 1457T>G BRCA-US X 107167684 107167684 single base substitution T G missense_variant I516R 1547T>G BRCA-US X 107169922 107169922 single base substitution C G downstream_gene_variant BRCA-US X 107169922 107169922 single base substitution C G stop_gained Y579* 1737C>G BRCA-US X 107169922 107169922 single base substitution C G stop_gained Y609* 1827C>G BRCA-US X 107170052 107170052 single base substitution C G downstream_gene_variant BRCA-US X 107170052 107170052 single base substitution C G missense_variant R623G 1867C>G BRCA-US X 107170052 107170052 single base substitution C G missense_variant R653G 1957C>G BTCA-JP X 107148827 107148827 single base substitution T C synonymous_variant F348F 1044T>C BTCA-JP X 107159313 107159313 single base substitution T G missense_variant D385E 1155T>G BTCA-JP X 107159313 107159313 single base substitution T G upstream_gene_variant BTCA-JP X 107170221 107170221 single base substitution T G downstream_gene_variant BTCA-JP X 107170221 107170221 single base substitution T G missense_variant F679C 2036T>G BTCA-JP X 107170221 107170221 single base substitution T G missense_variant F709C 2126T>G CESC-US X 107084146 107084146 single base substitution C G missense_variant S64W 191C>G CESC-US X 107084146 107084146 single base substitution C G missense_variant S84W 251C>G CESC-US X 107148838 107148838 insertion of <=200bp - A frameshift_variant A352D? CLLE-ES X 107064702 107064702 single base substitution G T upstream_gene_variant CLLE-ES X 107066043 107066043 single base substitution A T upstream_gene_variant CLLE-ES X 107072407 107072407 single base substitution A T intron_variant CLLE-ES X 107074191 107074191 single base substitution A G intron_variant CLLE-ES X 107076561 107076561 single base substitution C T intron_variant CLLE-ES X 107096506 107096506 single base substitution A T intron_variant CLLE-ES X 107120343 107120343 single base substitution G A intron_variant CLLE-ES X 107143928 107143928 single base substitution C A intron_variant CLLE-ES X 107145565 107145565 single base substitution T A intron_variant CLLE-ES X 107150091 107150091 single base substitution C G intron_variant CLLE-ES X 107159129 107159129 single base substitution C T intron_variant CLLE-ES X 107159129 107159129 single base substitution C T upstream_gene_variant CLLE-ES X 107166684 107166684 single base substitution G T intron_variant CLLE-ES X 107167920 107167920 single base substitution A C intron_variant CLLE-ES X 107168330 107168330 single base substitution T A intron_variant CLLE-ES X 107169108 107169108 single base substitution C T intron_variant COAD-US X 107084414 107084414 single base substitution G T missense_variant K153N 459G>T COAD-US X 107084414 107084414 single base substitution G T missense_variant K173N 519G>T COAD-US X 107097885 107097885 single base substitution A G missense_variant E256G 767A>G COAD-US X 107148750 107148750 single base substitution C T missense_variant R323C 967C>T COAD-US X 107170238 107170238 single base substitution C T downstream_gene_variant COAD-US X 107170238 107170238 single base substitution C T missense_variant R685W 2053C>T COAD-US X 107170238 107170238 single base substitution C T missense_variant R715W 2143C>T COCA-CN X 107083993 107083993 single base substitution G C missense_variant C13S 38G>C COCA-CN X 107083993 107083993 single base substitution G C missense_variant C33S 98G>C COCA-CN X 107084583 107084583 single base substitution G A missense_variant A210T 628G>A COCA-CN X 107084583 107084583 single base substitution G A missense_variant A230T 688G>A COCA-CN X 107121613 107121613 single base substitution T G intron_variant COCA-CN X 107147175 107147175 single base substitution A G intron_variant EOPC-DE X 107112206 107112206 single base substitution A G intron_variant EOPC-DE X 107140042 107140042 single base substitution T A intron_variant ESCA-CN X 107084320 107084320 single base substitution G A missense_variant C122Y 365G>A ESCA-CN X 107084320 107084320 single base substitution G A missense_variant C142Y 425G>A GBM-US X 107084129 107084129 single base substitution C T synonymous_variant T58T 174C>T GBM-US X 107084129 107084129 single base substitution C T synonymous_variant T78T 234C>T GBM-US X 107084402 107084402 single base substitution G A synonymous_variant T149T 447G>A GBM-US X 107084402 107084402 single base substitution G A synonymous_variant T169T 507G>A GBM-US X 107160914 107160914 single base substitution G T intron_variant GBM-US X 107160914 107160914 single base substitution G T missense_variant E460D 1380G>T GBM-US X 107160962 107160962 single base substitution G A intron_variant GBM-US X 107160962 107160962 single base substitution G A synonymous_variant A476A 1428G>A LAML-KR X 107073587 107073587 single base substitution G A intron_variant LAML-KR X 107084075 107084075 single base substitution A C synonymous_variant S40S 120A>C LAML-KR X 107084075 107084075 single base substitution A C synonymous_variant S60S 180A>C LAML-KR X 107097663 107097663 single base substitution C A intron_variant LGG-US X 107084365 107084365 single base substitution G A missense_variant C137Y 410G>A LGG-US X 107084365 107084365 single base substitution G A missense_variant C157Y 470G>A LICA-CN X 107169928 107169928 single base substitution A T downstream_gene_variant LICA-CN X 107169928 107169928 single base substitution A T synonymous_variant S581S 1743A>T LICA-CN X 107169928 107169928 single base substitution A T synonymous_variant S611S 1833A>T LICA-FR X 107084218 107084218 single base substitution A C missense_variant K108T 323A>C LICA-FR X 107084218 107084218 single base substitution A C missense_variant K88T 263A>C LICA-FR X 107088759 107088759 single base substitution T A downstream_gene_variant LICA-FR X 107088759 107088759 single base substitution T A intron_variant LICA-FR X 107097036 107097036 single base substitution G A intron_variant LICA-FR X 107123235 107123235 single base substitution G T intron_variant LICA-FR X 107130891 107130891 single base substitution C T intron_variant LICA-FR X 107134832 107134832 single base substitution C A intron_variant LICA-FR X 107172714 107172714 single base substitution A G downstream_gene_variant LIHC-US X 107084301 107084301 single base substitution C T stop_gained R116* 346C>T LIHC-US X 107084301 107084301 single base substitution C T stop_gained R136* 406C>T LIHC-US X 107169328 107169328 single base substitution A G exon_variant LIHC-US X 107169328 107169328 single base substitution A G synonymous_variant Q504Q 1512A>G LIHC-US X 107169328 107169328 single base substitution A G synonymous_variant Q534Q 1602A>G LINC-JP X 107070652 107070652 single base substitution T G intron_variant LINC-JP X 107072033 107072033 single base substitution A G intron_variant LINC-JP X 107089170 107089170 single base substitution A G downstream_gene_variant LINC-JP X 107089170 107089170 single base substitution A G intron_variant LINC-JP X 107121162 107121162 single base substitution G T intron_variant LINC-JP X 107158970 107158970 single base substitution A G intron_variant LINC-JP X 107158970 107158970 single base substitution A G upstream_gene_variant LINC-JP X 107159129 107159129 single base substitution C G intron_variant LINC-JP X 107159129 107159129 single base substitution C G upstream_gene_variant LIRI-JP X 107064986 107064986 single base substitution A G upstream_gene_variant LIRI-JP X 107074500 107074500 single base substitution G A intron_variant LIRI-JP X 107074559 107074559 single base substitution T A intron_variant LIRI-JP X 107075054 107075054 single base substitution A G intron_variant LIRI-JP X 107075707 107075707 single base substitution A G intron_variant LIRI-JP X 107076465 107076465 single base substitution G T intron_variant LIRI-JP X 107076772 107076772 single base substitution G A intron_variant LIRI-JP X 107078368 107078368 single base substitution A T intron_variant LIRI-JP X 107080353 107080353 single base substitution C A intron_variant LIRI-JP X 107080925 107080925 single base substitution G T intron_variant LIRI-JP X 107081766 107081766 single base substitution G T intron_variant LIRI-JP X 107082996 107082996 single base substitution G T intron_variant LIRI-JP X 107087359 107087359 single base substitution C T downstream_gene_variant LIRI-JP X 107087359 107087359 single base substitution C T intron_variant LIRI-JP X 107087820 107087820 single base substitution A G downstream_gene_variant LIRI-JP X 107087820 107087820 single base substitution A G intron_variant LIRI-JP X 107090689 107090689 single base substitution C A intron_variant LIRI-JP X 107091358 107091358 single base substitution A T intron_variant LIRI-JP X 107092592 107092592 deletion of <=200bp C - intron_variant LIRI-JP X 107094637 107094637 single base substitution A G intron_variant LIRI-JP X 107104303 107104303 single base substitution G A intron_variant LIRI-JP X 107105718 107105718 single base substitution G T intron_variant LIRI-JP X 107105828 107105828 single base substitution T C intron_variant LIRI-JP X 107111559 107111559 single base substitution G A intron_variant LIRI-JP X 107116912 107116912 single base substitution C A intron_variant LIRI-JP X 107120929 107120929 single base substitution T C intron_variant LIRI-JP X 107121976 107121976 single base substitution A G intron_variant LIRI-JP X 107123738 107123738 single base substitution C A intron_variant LIRI-JP X 107124223 107124223 single base substitution T C intron_variant LIRI-JP X 107124962 107124962 single base substitution G A intron_variant LIRI-JP X 107127198 107127198 single base substitution G T intron_variant LIRI-JP X 107127591 107127591 single base substitution C T intron_variant LIRI-JP X 107134373 107134373 single base substitution C T intron_variant LIRI-JP X 107136600 107136600 single base substitution T C intron_variant LIRI-JP X 107136916 107136916 single base substitution G T intron_variant LIRI-JP X 107137854 107137854 single base substitution C A intron_variant LIRI-JP X 107138621 107138621 single base substitution C A intron_variant LIRI-JP X 107138672 107138672 single base substitution A G intron_variant LIRI-JP X 107138800 107138800 single base substitution C T intron_variant LIRI-JP X 107140041 107140044 deletion of <=200bp CTCA - intron_variant LIRI-JP X 107140300 107140300 single base substitution C A intron_variant LIRI-JP X 107140380 107140380 single base substitution G A intron_variant LIRI-JP X 107141510 107141510 single base substitution G T intron_variant LIRI-JP X 107145427 107145427 single base substitution G A intron_variant LIRI-JP X 107146797 107146797 single base substitution G A intron_variant LIRI-JP X 107150071 107150071 single base substitution C A intron_variant LIRI-JP X 107152343 107152343 single base substitution A G intron_variant LIRI-JP X 107155502 107155502 single base substitution T C intron_variant LIRI-JP X 107157506 107157506 single base substitution A G intron_variant LIRI-JP X 107157506 107157506 single base substitution A G upstream_gene_variant LIRI-JP X 107159433 107159433 single base substitution A G intron_variant LIRI-JP X 107159433 107159433 single base substitution A G upstream_gene_variant LIRI-JP X 107160954 107160954 single base substitution G T intron_variant LIRI-JP X 107160954 107160954 single base substitution G T missense_variant A474S 1420G>T LIRI-JP X 107162009 107162009 insertion of <=200bp - T intron_variant LIRI-JP X 107174226 107174226 single base substitution A C downstream_gene_variant LIRI-JP X 107175322 107175322 single base substitution A G downstream_gene_variant LUSC-CN X 107174586 107174586 single base substitution C A downstream_gene_variant LUSC-KR X 107071210 107071210 single base substitution G T intron_variant LUSC-KR X 107079685 107079685 single base substitution G T intron_variant LUSC-KR X 107079830 107079830 single base substitution G T intron_variant LUSC-KR X 107102333 107102333 single base substitution C T intron_variant LUSC-KR X 107104634 107104634 single base substitution G A intron_variant LUSC-KR X 107105588 107105588 single base substitution A T intron_variant LUSC-KR X 107135812 107135812 single base substitution G T intron_variant LUSC-KR X 107136732 107136732 single base substitution A T intron_variant LUSC-KR X 107137299 107137299 single base substitution C T intron_variant LUSC-KR X 107140042 107140042 single base substitution T A intron_variant LUSC-KR X 107140361 107140361 single base substitution A T intron_variant LUSC-KR X 107158039 107158039 single base substitution G T intron_variant LUSC-KR X 107158039 107158039 single base substitution G T upstream_gene_variant LUSC-KR X 107159814 107159814 single base substitution G C intron_variant LUSC-KR X 107159814 107159814 single base substitution G C upstream_gene_variant LUSC-KR X 107164016 107164016 single base substitution A T intron_variant LUSC-KR X 107167737 107167737 single base substitution A G splice_region_variant LUSC-KR X 107174169 107174169 single base substitution T A downstream_gene_variant LUSC-US X 107160757 107160757 single base substitution G T exon_variant LUSC-US X 107160757 107160757 single base substitution G T missense_variant R408L 1223G>T LUSC-US X 107169340 107169340 single base substitution G T exon_variant LUSC-US X 107169340 107169340 single base substitution G T missense_variant L508F 1524G>T LUSC-US X 107169340 107169340 single base substitution G T missense_variant L538F 1614G>T MALY-DE X 107065707 107065707 single base substitution G A upstream_gene_variant MALY-DE X 107068206 107068207 deletion of <=200bp GT - upstream_gene_variant MALY-DE X 107074256 107074256 single base substitution A C intron_variant MALY-DE X 107076667 107076667 single base substitution T A intron_variant MALY-DE X 107079593 107079593 single base substitution C T intron_variant MALY-DE X 107080180 107080180 single base substitution T G intron_variant MALY-DE X 107081281 107081281 single base substitution A G intron_variant MALY-DE X 107081784 107081784 single base substitution T A intron_variant MALY-DE X 107084387 107084387 single base substitution T C synonymous_variant R144R 432T>C MALY-DE X 107084387 107084387 single base substitution T C synonymous_variant R164R 492T>C MALY-DE X 107086399 107086399 single base substitution G C downstream_gene_variant MALY-DE X 107086399 107086399 single base substitution G C intron_variant MALY-DE X 107092717 107092717 single base substitution A C intron_variant MALY-DE X 107093420 107093421 deletion of <=200bp AC - intron_variant MALY-DE X 107094883 107094885 deletion of <=200bp AAC - intron_variant MALY-DE X 107096398 107096398 single base substitution T C intron_variant MALY-DE X 107099486 107099486 single base substitution A C intron_variant MALY-DE X 107102942 107102942 single base substitution A G intron_variant MALY-DE X 107106612 107106612 single base substitution G A intron_variant MALY-DE X 107117247 107117247 single base substitution A T intron_variant MALY-DE X 107124048 107124048 single base substitution G A intron_variant MALY-DE X 107127274 107127274 single base substitution C T intron_variant MALY-DE X 107131110 107131110 single base substitution C A intron_variant MALY-DE X 107134063 107134063 single base substitution C A intron_variant MALY-DE X 107134064 107134064 single base substitution A G intron_variant MALY-DE X 107137500 107137500 single base substitution C T intron_variant MALY-DE X 107137591 107137591 insertion of <=200bp - T intron_variant MALY-DE X 107140043 107140043 insertion of <=200bp - CA intron_variant MALY-DE X 107146287 107146287 single base substitution G A intron_variant MALY-DE X 107148726 107148726 single base substitution T G missense_variant L315V 943T>G MALY-DE X 107150858 107150858 deletion of <=200bp A - intron_variant MALY-DE X 107155486 107155486 single base substitution C G intron_variant MALY-DE X 107157991 107157991 single base substitution A T intron_variant MALY-DE X 107157991 107157991 single base substitution A T upstream_gene_variant MALY-DE X 107161152 107161152 single base substitution A T intron_variant MALY-DE X 107161549 107161549 single base substitution A G intron_variant MALY-DE X 107161853 107161853 single base substitution C A intron_variant MALY-DE X 107162524 107162524 single base substitution T A intron_variant MALY-DE X 107169715 107169715 single base substitution G T downstream_gene_variant MALY-DE X 107169715 107169715 single base substitution G T intron_variant MALY-DE X 107174106 107174106 single base substitution C T downstream_gene_variant MELA-AU X 107064019 107064019 single base substitution G A upstream_gene_variant MELA-AU X 107064120 107064120 single base substitution G A upstream_gene_variant MELA-AU X 107064191 107064191 single base substitution G A upstream_gene_variant MELA-AU X 107064588 107064588 single base substitution G A upstream_gene_variant MELA-AU X 107064833 107064833 single base substitution C T upstream_gene_variant MELA-AU X 107065313 107065317 deletion of <=200bp GTTTC - upstream_gene_variant MELA-AU X 107065778 107065778 single base substitution G A upstream_gene_variant MELA-AU X 107066100 107066100 single base substitution C T upstream_gene_variant MELA-AU X 107066620 107066621 deletion of <=200bp TA - upstream_gene_variant MELA-AU X 107067528 107067528 single base substitution T C upstream_gene_variant MELA-AU X 107068143 107068143 single base substitution A G upstream_gene_variant MELA-AU X 107070653 107070653 single base substitution C T intron_variant MELA-AU X 107071348 107071348 single base substitution C T intron_variant MELA-AU X 107072316 107072316 single base substitution C T intron_variant MELA-AU X 107072321 107072321 single base substitution C T intron_variant MELA-AU X 107072638 107072638 single base substitution C G intron_variant MELA-AU X 107073404 107073404 single base substitution C T intron_variant MELA-AU X 107074644 107074644 single base substitution G A intron_variant MELA-AU X 107075146 107075146 single base substitution G A intron_variant MELA-AU X 107075484 107075484 single base substitution G A intron_variant MELA-AU X 107075918 107075918 single base substitution C T intron_variant MELA-AU X 107076199 107076199 single base substitution C T intron_variant MELA-AU X 107076227 107076227 single base substitution C T intron_variant MELA-AU X 107076261 107076261 single base substitution C T intron_variant MELA-AU X 107076395 107076395 single base substitution A T intron_variant MELA-AU X 107076659 107076659 single base substitution A T intron_variant MELA-AU X 107077820 107077820 single base substitution G A intron_variant MELA-AU X 107078830 107078830 single base substitution C T intron_variant MELA-AU X 107078993 107078993 single base substitution G A intron_variant MELA-AU X 107079081 107079081 single base substitution T C intron_variant MELA-AU X 107079316 107079316 single base substitution C T intron_variant MELA-AU X 107079516 107079516 single base substitution C T intron_variant MELA-AU X 107079813 107079813 single base substitution C T intron_variant MELA-AU X 107080328 107080328 single base substitution T A intron_variant MELA-AU X 107080726 107080726 single base substitution A T intron_variant MELA-AU X 107082670 107082670 single base substitution C T intron_variant MELA-AU X 107083879 107083879 single base substitution C T intron_variant MELA-AU X 107084242 107084242 single base substitution C T missense_variant S116F 347C>T MELA-AU X 107084242 107084242 single base substitution C T missense_variant S96F 287C>T MELA-AU X 107084244 107084245 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P117F 349CC>TT MELA-AU X 107084244 107084245 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P97F 289CC>TT MELA-AU X 107085260 107085260 single base substitution G A downstream_gene_variant MELA-AU X 107085260 107085260 single base substitution G A intron_variant MELA-AU X 107085469 107085469 single base substitution T G downstream_gene_variant MELA-AU X 107085469 107085469 single base substitution T G intron_variant MELA-AU X 107085683 107085683 single base substitution G A downstream_gene_variant MELA-AU X 107085683 107085683 single base substitution G A intron_variant MELA-AU X 107087319 107087319 single base substitution C T downstream_gene_variant MELA-AU X 107087319 107087319 single base substitution C T intron_variant MELA-AU X 107088757 107088757 single base substitution T A downstream_gene_variant MELA-AU X 107088757 107088757 single base substitution T A intron_variant MELA-AU X 107089155 107089155 single base substitution T G downstream_gene_variant MELA-AU X 107089155 107089155 single base substitution T G intron_variant MELA-AU X 107089347 107089347 single base substitution G A downstream_gene_variant MELA-AU X 107089347 107089347 single base substitution G A intron_variant MELA-AU X 107089639 107089639 single base substitution G A intron_variant MELA-AU X 107090424 107090424 single base substitution T G intron_variant MELA-AU X 107090615 107090615 single base substitution G A intron_variant MELA-AU X 107090711 107090711 single base substitution C T intron_variant MELA-AU X 107091338 107091338 single base substitution C T intron_variant MELA-AU X 107092265 107092265 single base substitution G A intron_variant MELA-AU X 107092372 107092373 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 107092442 107092442 single base substitution A T intron_variant MELA-AU X 107092466 107092466 single base substitution G T intron_variant MELA-AU X 107092800 107092800 single base substitution C T intron_variant MELA-AU X 107093419 107093419 single base substitution G C intron_variant MELA-AU X 107094523 107094523 single base substitution C T intron_variant MELA-AU X 107095032 107095032 single base substitution C A intron_variant MELA-AU X 107096047 107096047 single base substitution C T intron_variant MELA-AU X 107096352 107096352 single base substitution G A intron_variant MELA-AU X 107096971 107096971 single base substitution C T intron_variant MELA-AU X 107097370 107097370 single base substitution C T intron_variant MELA-AU X 107097992 107097992 single base substitution G A intron_variant MELA-AU X 107098149 107098149 single base substitution G A intron_variant MELA-AU X 107098301 107098301 single base substitution C T intron_variant MELA-AU X 107098302 107098302 single base substitution C T intron_variant MELA-AU X 107098918 107098918 single base substitution T A intron_variant MELA-AU X 107098996 107098996 single base substitution G A intron_variant MELA-AU X 107100373 107100373 single base substitution G A intron_variant MELA-AU X 107100705 107100705 single base substitution T A intron_variant MELA-AU X 107100760 107100760 single base substitution C T intron_variant MELA-AU X 107101114 107101114 single base substitution G A intron_variant MELA-AU X 107101185 107101185 single base substitution C T intron_variant MELA-AU X 107102488 107102488 single base substitution C T intron_variant MELA-AU X 107102606 107102606 single base substitution G A intron_variant MELA-AU X 107102665 107102665 single base substitution C T intron_variant MELA-AU X 107103120 107103120 single base substitution G A intron_variant MELA-AU X 107103838 107103838 single base substitution G A intron_variant MELA-AU X 107105636 107105636 single base substitution G A intron_variant MELA-AU X 107106701 107106701 single base substitution C T intron_variant MELA-AU X 107107429 107107429 single base substitution C T intron_variant MELA-AU X 107107474 107107474 single base substitution G A intron_variant MELA-AU X 107108908 107108908 single base substitution C T intron_variant MELA-AU X 107109273 107109273 single base substitution G A intron_variant MELA-AU X 107109397 107109397 single base substitution G A intron_variant MELA-AU X 107111260 107111260 single base substitution C A intron_variant MELA-AU X 107111920 107111920 single base substitution G A intron_variant MELA-AU X 107112265 107112265 single base substitution G A intron_variant MELA-AU X 107112976 107112976 single base substitution C T intron_variant MELA-AU X 107113495 107113495 single base substitution C T intron_variant MELA-AU X 107113595 107113595 single base substitution C T intron_variant MELA-AU X 107114059 107114059 single base substitution T A intron_variant MELA-AU X 107114163 107114163 single base substitution C T intron_variant MELA-AU X 107114448 107114448 single base substitution C T intron_variant MELA-AU X 107114449 107114449 single base substitution C T intron_variant MELA-AU X 107114879 107114879 single base substitution G A intron_variant MELA-AU X 107115213 107115213 single base substitution T A intron_variant MELA-AU X 107116386 107116386 single base substitution C T intron_variant MELA-AU X 107116479 107116479 single base substitution G A intron_variant MELA-AU X 107116534 107116534 single base substitution C T intron_variant MELA-AU X 107117028 107117028 single base substitution C T intron_variant MELA-AU X 107117052 107117052 single base substitution C T intron_variant MELA-AU X 107117532 107117532 single base substitution A C intron_variant MELA-AU X 107118675 107118675 single base substitution C T intron_variant MELA-AU X 107118714 107118714 single base substitution A T intron_variant MELA-AU X 107118986 107118986 single base substitution T G intron_variant MELA-AU X 107119431 107119431 single base substitution C T intron_variant MELA-AU X 107119661 107119661 single base substitution C T intron_variant MELA-AU X 107120264 107120265 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 107120986 107120986 single base substitution C T intron_variant MELA-AU X 107121220 107121220 single base substitution C T intron_variant MELA-AU X 107121299 107121299 single base substitution T C intron_variant MELA-AU X 107121617 107121617 single base substitution G A intron_variant MELA-AU X 107121977 107121977 single base substitution G A intron_variant MELA-AU X 107122025 107122025 single base substitution G A intron_variant MELA-AU X 107122088 107122088 single base substitution C T intron_variant MELA-AU X 107122299 107122299 single base substitution G A intron_variant MELA-AU X 107122364 107122364 single base substitution C T intron_variant MELA-AU X 107122528 107122528 single base substitution T A intron_variant MELA-AU X 107122613 107122614 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 107122932 107122932 single base substitution C T intron_variant MELA-AU X 107123822 107123822 single base substitution C T intron_variant MELA-AU X 107124124 107124124 single base substitution C T intron_variant MELA-AU X 107124340 107124340 single base substitution G A intron_variant MELA-AU X 107125754 107125754 single base substitution C T intron_variant MELA-AU X 107126231 107126232 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 107126673 107126673 single base substitution G A intron_variant MELA-AU X 107126738 107126738 single base substitution A G intron_variant MELA-AU X 107127243 107127243 single base substitution C T intron_variant MELA-AU X 107127487 107127487 single base substitution G A intron_variant MELA-AU X 107127527 107127527 single base substitution A G intron_variant MELA-AU X 107128850 107128850 single base substitution C T intron_variant MELA-AU X 107129851 107129851 single base substitution C T intron_variant MELA-AU X 107129856 107129856 single base substitution G A intron_variant MELA-AU X 107131205 107131205 single base substitution C T intron_variant MELA-AU X 107131782 107131782 single base substitution G A intron_variant MELA-AU X 107131848 107131848 single base substitution A T intron_variant MELA-AU X 107131893 107131893 single base substitution G A intron_variant MELA-AU X 107132087 107132087 single base substitution C T intron_variant MELA-AU X 107132757 107132758 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 107132966 107132966 single base substitution C T intron_variant MELA-AU X 107133042 107133042 single base substitution C T intron_variant MELA-AU X 107133127 107133127 single base substitution C T intron_variant MELA-AU X 107133205 107133205 single base substitution C T intron_variant MELA-AU X 107133655 107133655 single base substitution G A intron_variant MELA-AU X 107133762 107133762 single base substitution G A intron_variant MELA-AU X 107133943 107133943 single base substitution G A intron_variant MELA-AU X 107134793 107134793 single base substitution A G intron_variant MELA-AU X 107135433 107135433 single base substitution G A intron_variant MELA-AU X 107135592 107135592 single base substitution G A intron_variant MELA-AU X 107135794 107135794 single base substitution G A intron_variant MELA-AU X 107135817 107135817 single base substitution A G intron_variant MELA-AU X 107135918 107135918 single base substitution C T intron_variant MELA-AU X 107136016 107136016 single base substitution C T intron_variant MELA-AU X 107137518 107137518 single base substitution T C intron_variant MELA-AU X 107137827 107137827 single base substitution C T intron_variant MELA-AU X 107138098 107138098 insertion of <=200bp - AGAG intron_variant MELA-AU X 107138960 107138960 single base substitution T G intron_variant MELA-AU X 107139693 107139694 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 107140031 107140031 insertion of <=200bp - CT intron_variant MELA-AU X 107140830 107140830 single base substitution C T intron_variant MELA-AU X 107140955 107140955 single base substitution G A intron_variant MELA-AU X 107141100 107141100 single base substitution C T intron_variant MELA-AU X 107141358 107141358 single base substitution C T intron_variant MELA-AU X 107141876 107141876 single base substitution C T intron_variant MELA-AU X 107142007 107142007 single base substitution C T intron_variant MELA-AU X 107143513 107143513 single base substitution G A intron_variant MELA-AU X 107143604 107143604 single base substitution C T intron_variant MELA-AU X 107144505 107144505 single base substitution G A intron_variant MELA-AU X 107145192 107145192 single base substitution G A intron_variant MELA-AU X 107145312 107145312 single base substitution C T intron_variant MELA-AU X 107145335 107145336 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 107145775 107145775 single base substitution G T intron_variant MELA-AU X 107146102 107146102 single base substitution G A intron_variant MELA-AU X 107146164 107146165 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 107146676 107146676 single base substitution G A intron_variant MELA-AU X 107146868 107146868 single base substitution C T intron_variant MELA-AU X 107147140 107147141 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 107147173 107147173 single base substitution G A intron_variant MELA-AU X 107147364 107147364 single base substitution G A intron_variant MELA-AU X 107147435 107147435 single base substitution C T intron_variant MELA-AU X 107147460 107147460 single base substitution G A intron_variant MELA-AU X 107147895 107147895 single base substitution G A intron_variant MELA-AU X 107148030 107148030 single base substitution T A intron_variant MELA-AU X 107148451 107148451 single base substitution A G intron_variant MELA-AU X 107148983 107148983 single base substitution G T intron_variant MELA-AU X 107150292 107150292 single base substitution C T intron_variant MELA-AU X 107150307 107150307 single base substitution C T intron_variant MELA-AU X 107150341 107150341 single base substitution C T intron_variant MELA-AU X 107150469 107150469 single base substitution C T intron_variant MELA-AU X 107150533 107150533 single base substitution T A intron_variant MELA-AU X 107150662 107150662 single base substitution C T intron_variant MELA-AU X 107151174 107151174 single base substitution A G intron_variant MELA-AU X 107151368 107151368 single base substitution C T intron_variant MELA-AU X 107151533 107151533 single base substitution C T intron_variant MELA-AU X 107152473 107152473 single base substitution C T intron_variant MELA-AU X 107152644 107152644 single base substitution C T intron_variant MELA-AU X 107152987 107152987 single base substitution G A intron_variant MELA-AU X 107153966 107153966 single base substitution G A intron_variant MELA-AU X 107153988 107153988 single base substitution C T intron_variant MELA-AU X 107154412 107154412 single base substitution C T intron_variant MELA-AU X 107154614 107154614 single base substitution A T intron_variant MELA-AU X 107154615 107154615 single base substitution T A intron_variant MELA-AU X 107154837 107154837 single base substitution C T intron_variant MELA-AU X 107155018 107155018 single base substitution C T intron_variant MELA-AU X 107157217 107157217 single base substitution C T intron_variant MELA-AU X 107157217 107157217 single base substitution C T upstream_gene_variant MELA-AU X 107157286 107157286 single base substitution C T intron_variant MELA-AU X 107157286 107157286 single base substitution C T upstream_gene_variant MELA-AU X 107157688 107157688 single base substitution C A intron_variant MELA-AU X 107157688 107157688 single base substitution C A upstream_gene_variant MELA-AU X 107158313 107158313 single base substitution A T intron_variant MELA-AU X 107158313 107158313 single base substitution A T upstream_gene_variant MELA-AU X 107158476 107158476 single base substitution G A intron_variant MELA-AU X 107158476 107158476 single base substitution G A upstream_gene_variant MELA-AU X 107159105 107159105 single base substitution G A intron_variant MELA-AU X 107159105 107159105 single base substitution G A upstream_gene_variant MELA-AU X 107159519 107159538 deletion of <=200bp TAACAGAAAAAAAGATGATT - intron_variant MELA-AU X 107159519 107159538 deletion of <=200bp TAACAGAAAAAAAGATGATT - upstream_gene_variant MELA-AU X 107160166 107160166 single base substitution T C intron_variant MELA-AU X 107160166 107160166 single base substitution T C upstream_gene_variant MELA-AU X 107160253 107160253 single base substitution C T intron_variant MELA-AU X 107160253 107160253 single base substitution C T upstream_gene_variant MELA-AU X 107161633 107161633 single base substitution C T intron_variant MELA-AU X 107163470 107163470 single base substitution A C intron_variant MELA-AU X 107164131 107164131 single base substitution C T intron_variant MELA-AU X 107165024 107165024 single base substitution G A intron_variant MELA-AU X 107165423 107165423 single base substitution C T intron_variant MELA-AU X 107165430 107165430 single base substitution C T intron_variant MELA-AU X 107165689 107165689 single base substitution A T intron_variant MELA-AU X 107165971 107165971 single base substitution G A intron_variant MELA-AU X 107166232 107166232 single base substitution C A intron_variant MELA-AU X 107166854 107166854 single base substitution C T intron_variant MELA-AU X 107166917 107166917 single base substitution G A intron_variant MELA-AU X 107167124 107167124 single base substitution G A intron_variant MELA-AU X 107167191 107167191 single base substitution C T intron_variant MELA-AU X 107167272 107167272 single base substitution C T intron_variant MELA-AU X 107167673 107167673 single base substitution C T exon_variant MELA-AU X 107167673 107167673 single base substitution C T synonymous_variant I482I 1446C>T MELA-AU X 107167673 107167673 single base substitution C T synonymous_variant I512I 1536C>T MELA-AU X 107167765 107167765 single base substitution C T intron_variant MELA-AU X 107168373 107168373 single base substitution C T intron_variant MELA-AU X 107168562 107168562 single base substitution A T intron_variant MELA-AU X 107168680 107168680 single base substitution G A intron_variant MELA-AU X 107169345 107169345 single base substitution C T exon_variant MELA-AU X 107169345 107169345 single base substitution C T missense_variant P510L 1529C>T MELA-AU X 107169345 107169345 single base substitution C T missense_variant P540L 1619C>T MELA-AU X 107169587 107169587 single base substitution A T exon_variant MELA-AU X 107169587 107169587 single base substitution A T intron_variant MELA-AU X 107169963 107169963 single base substitution C T downstream_gene_variant MELA-AU X 107169963 107169963 single base substitution C T missense_variant S593F 1778C>T MELA-AU X 107169963 107169963 single base substitution C T missense_variant S623F 1868C>T MELA-AU X 107170163 107170163 single base substitution A G downstream_gene_variant MELA-AU X 107170163 107170163 single base substitution A G missense_variant T660A 1978A>G MELA-AU X 107170163 107170163 single base substitution A G missense_variant T690A 2068A>G MELA-AU X 107170270 107170270 single base substitution C T downstream_gene_variant MELA-AU X 107170270 107170270 single base substitution C T synonymous_variant S695S 2085C>T MELA-AU X 107170270 107170270 single base substitution C T synonymous_variant S725S 2175C>T MELA-AU X 107170582 107170582 single base substitution G A downstream_gene_variant MELA-AU X 107170779 107170779 single base substitution C T downstream_gene_variant MELA-AU X 107170796 107170796 single base substitution G A downstream_gene_variant MELA-AU X 107170992 107170992 single base substitution G A downstream_gene_variant MELA-AU X 107171632 107171632 single base substitution G A downstream_gene_variant MELA-AU X 107172870 107172870 single base substitution C T downstream_gene_variant MELA-AU X 107173020 107173020 single base substitution C T downstream_gene_variant MELA-AU X 107173021 107173021 single base substitution C T downstream_gene_variant MELA-AU X 107173692 107173692 single base substitution C T downstream_gene_variant MELA-AU X 107173709 107173709 single base substitution C T downstream_gene_variant MELA-AU X 107174455 107174455 single base substitution G A downstream_gene_variant MELA-AU X 107175206 107175206 single base substitution G A downstream_gene_variant MELA-AU X 107175364 107175364 single base substitution A T downstream_gene_variant ORCA-IN X 107071543 107071543 insertion of <=200bp - C intron_variant ORCA-IN X 107089125 107089125 deletion of <=200bp A - downstream_gene_variant ORCA-IN X 107089125 107089125 deletion of <=200bp A - intron_variant ORCA-IN X 107107779 107107779 single base substitution C G intron_variant ORCA-IN X 107167621 107167622 deletion of <=200bp AG - exon_variant ORCA-IN X 107167621 107167622 deletion of <=200bp AG - frameshift_variant Q465 ORCA-IN X 107167621 107167622 deletion of <=200bp AG - frameshift_variant Q495 OV-AU X 107068383 107068383 single base substitution C T upstream_gene_variant OV-AU X 107072228 107072228 single base substitution G C intron_variant OV-AU X 107075531 107075531 single base substitution G A intron_variant OV-AU X 107078469 107078469 single base substitution A G intron_variant OV-AU X 107079723 107079723 single base substitution C T intron_variant OV-AU X 107080640 107080640 single base substitution A T intron_variant OV-AU X 107082736 107082736 single base substitution G A intron_variant OV-AU X 107089005 107089005 single base substitution C T downstream_gene_variant OV-AU X 107089005 107089005 single base substitution C T intron_variant OV-AU X 107091031 107091031 single base substitution A G intron_variant OV-AU X 107091807 107091807 single base substitution A C intron_variant OV-AU X 107097150 107097150 single base substitution T A intron_variant OV-AU X 107099123 107099123 single base substitution A G intron_variant OV-AU X 107101494 107101494 single base substitution T G intron_variant OV-AU X 107101904 107101904 single base substitution A G intron_variant OV-AU X 107106266 107106266 single base substitution A T intron_variant OV-AU X 107106646 107106646 single base substitution C A intron_variant OV-AU X 107113856 107113856 single base substitution G C intron_variant OV-AU X 107117263 107117263 single base substitution A G intron_variant OV-AU X 107120821 107120821 single base substitution C G intron_variant OV-AU X 107120984 107120984 single base substitution C G intron_variant OV-AU X 107123037 107123037 single base substitution G C intron_variant OV-AU X 107131942 107131942 single base substitution C T intron_variant OV-AU X 107137493 107137493 single base substitution A G intron_variant OV-AU X 107140184 107140184 single base substitution G C intron_variant OV-AU X 107149925 107149925 single base substitution C T intron_variant OV-AU X 107150880 107150880 single base substitution C G intron_variant OV-AU X 107155992 107155992 single base substitution G T intron_variant OV-AU X 107155992 107155992 single base substitution G T upstream_gene_variant OV-AU X 107162289 107162289 single base substitution C A intron_variant OV-AU X 107168077 107168077 single base substitution T C intron_variant OV-AU X 107170504 107170504 single base substitution G C downstream_gene_variant OV-AU X 107172794 107172794 single base substitution A G downstream_gene_variant OV-AU X 107173123 107173123 single base substitution G T downstream_gene_variant PACA-AU X 107066620 107066620 insertion of <=200bp - TA upstream_gene_variant PACA-AU X 107066764 107066764 single base substitution G A upstream_gene_variant PACA-AU X 107070004 107070004 single base substitution G A intron_variant PACA-AU X 107071734 107071734 single base substitution G A intron_variant PACA-AU X 107076661 107076661 single base substitution T A intron_variant PACA-AU X 107076667 107076667 single base substitution T A intron_variant PACA-AU X 107077588 107077588 single base substitution C A intron_variant PACA-AU X 107079856 107079856 single base substitution G A intron_variant PACA-AU X 107082015 107082015 single base substitution A G intron_variant PACA-AU X 107083385 107083385 insertion of <=200bp - C intron_variant PACA-AU X 107084506 107084506 single base substitution A T missense_variant N184I 551A>T PACA-AU X 107084506 107084506 single base substitution A T missense_variant N204I 611A>T PACA-AU X 107096859 107096859 single base substitution G A intron_variant PACA-AU X 107105466 107105466 single base substitution G A intron_variant PACA-AU X 107119754 107119754 single base substitution C A intron_variant PACA-AU X 107119755 107119755 single base substitution C A intron_variant PACA-AU X 107128922 107128922 single base substitution G A intron_variant PACA-AU X 107129888 107129888 single base substitution A G intron_variant PACA-AU X 107129889 107129889 single base substitution G T intron_variant PACA-AU X 107132994 107132994 single base substitution G A intron_variant PACA-AU X 107133109 107133109 single base substitution C T intron_variant PACA-AU X 107135189 107135189 single base substitution G C intron_variant PACA-AU X 107136181 107136181 single base substitution G A intron_variant PACA-AU X 107138446 107138446 single base substitution G T intron_variant PACA-AU X 107143830 107143830 single base substitution C T intron_variant PACA-AU X 107144322 107144322 single base substitution A T intron_variant PACA-AU X 107144925 107144925 single base substitution T G intron_variant PACA-AU X 107148331 107148331 single base substitution A G intron_variant PACA-AU X 107155822 107155822 single base substitution C A intron_variant PACA-AU X 107155822 107155822 single base substitution C A upstream_gene_variant PACA-AU X 107158253 107158253 single base substitution G C intron_variant PACA-AU X 107158253 107158253 single base substitution G C upstream_gene_variant PACA-AU X 107158576 107158576 single base substitution C T intron_variant PACA-AU X 107158576 107158576 single base substitution C T upstream_gene_variant PACA-AU X 107162360 107162360 single base substitution G A intron_variant PACA-AU X 107165524 107165524 single base substitution C T intron_variant PACA-AU X 107166549 107166549 single base substitution A G intron_variant PACA-AU X 107168127 107168127 single base substitution G A intron_variant PACA-AU X 107168371 107168371 single base substitution A G intron_variant PACA-AU X 107168515 107168515 single base substitution T C intron_variant PACA-AU X 107170135 107170135 single base substitution T C downstream_gene_variant PACA-AU X 107170135 107170135 single base substitution T C synonymous_variant D650D 1950T>C PACA-AU X 107170135 107170135 single base substitution T C synonymous_variant D680D 2040T>C PACA-AU X 107172521 107172521 single base substitution C T downstream_gene_variant PACA-AU X 107172534 107172534 deletion of <=200bp T - downstream_gene_variant PACA-CA X 107069447 107069447 single base substitution C T 5_prime_UTR_variant PACA-CA X 107069447 107069447 single base substitution C T intron_variant PACA-CA X 107069447 107069447 single base substitution C T upstream_gene_variant PACA-CA X 107069923 107069923 single base substitution C T intron_variant PACA-CA X 107070249 107070249 single base substitution G C intron_variant PACA-CA X 107073059 107073059 single base substitution G A intron_variant PACA-CA X 107075749 107075749 single base substitution G A intron_variant PACA-CA X 107076027 107076027 single base substitution C A intron_variant PACA-CA X 107076659 107076659 single base substitution A T intron_variant PACA-CA X 107078350 107078350 single base substitution G A intron_variant PACA-CA X 107085731 107085731 single base substitution G A downstream_gene_variant PACA-CA X 107085731 107085731 single base substitution G A intron_variant PACA-CA X 107088755 107088755 single base substitution A T downstream_gene_variant PACA-CA X 107088755 107088755 single base substitution A T intron_variant PACA-CA X 107088757 107088757 single base substitution T A downstream_gene_variant PACA-CA X 107088757 107088757 single base substitution T A intron_variant PACA-CA X 107090135 107090135 single base substitution G C intron_variant PACA-CA X 107093910 107093910 single base substitution G A intron_variant PACA-CA X 107094764 107094764 single base substitution C A intron_variant PACA-CA X 107095275 107095275 single base substitution G A intron_variant PACA-CA X 107102223 107102223 single base substitution G A intron_variant PACA-CA X 107107796 107107796 single base substitution T C intron_variant PACA-CA X 107109019 107109019 single base substitution A G intron_variant PACA-CA X 107109408 107109408 single base substitution C T intron_variant PACA-CA X 107109819 107109819 single base substitution A G intron_variant PACA-CA X 107111098 107111098 single base substitution G A intron_variant PACA-CA X 107113073 107113073 single base substitution A C intron_variant PACA-CA X 107119821 107119821 single base substitution T C intron_variant PACA-CA X 107129821 107129821 single base substitution G A intron_variant PACA-CA X 107138446 107138446 single base substitution G T intron_variant PACA-CA X 107139180 107139180 single base substitution C T intron_variant PACA-CA X 107140585 107140585 insertion of <=200bp - T intron_variant PACA-CA X 107140714 107140714 deletion of <=200bp T - intron_variant PACA-CA X 107142422 107142422 single base substitution C A intron_variant PACA-CA X 107142621 107142621 single base substitution G T intron_variant PACA-CA X 107143932 107143932 single base substitution G T intron_variant PACA-CA X 107144532 107144532 single base substitution T A intron_variant PACA-CA X 107149111 107149111 single base substitution G A intron_variant PACA-CA X 107158438 107158438 single base substitution A G intron_variant PACA-CA X 107158438 107158438 single base substitution A G upstream_gene_variant PACA-CA X 107160559 107160559 single base substitution T C intron_variant PACA-CA X 107160559 107160559 single base substitution T C upstream_gene_variant PACA-CA X 107164760 107164769 deletion of <=200bp TTGATGATAC - intron_variant PACA-CA X 107164925 107164925 single base substitution G T intron_variant PACA-CA X 107173571 107173571 single base substitution T C downstream_gene_variant PBCA-DE X 107065717 107065717 single base substitution C T upstream_gene_variant PBCA-DE X 107066620 107066621 deletion of <=200bp TA - upstream_gene_variant PBCA-DE X 107068206 107068207 deletion of <=200bp GT - upstream_gene_variant PBCA-DE X 107068909 107068910 deletion of <=200bp CA - upstream_gene_variant PBCA-DE X 107068939 107068940 deletion of <=200bp AC - upstream_gene_variant PBCA-DE X 107074499 107074499 single base substitution C G intron_variant PBCA-DE X 107094883 107094883 insertion of <=200bp - AAC intron_variant PBCA-DE X 107110951 107110951 single base substitution G A intron_variant PBCA-DE X 107119974 107119974 single base substitution C A intron_variant PBCA-DE X 107123737 107123737 single base substitution G A intron_variant PBCA-DE X 107127915 107127915 insertion of <=200bp - AAAAC intron_variant PBCA-DE X 107133048 107133048 insertion of <=200bp - T intron_variant PBCA-DE X 107139850 107139850 single base substitution T C intron_variant PBCA-DE X 107140043 107140044 deletion of <=200bp CA - intron_variant PBCA-DE X 107142847 107142847 single base substitution A C intron_variant PBCA-DE X 107143492 107143492 single base substitution A T intron_variant PBCA-DE X 107144285 107144285 single base substitution C T intron_variant PBCA-DE X 107145740 107145740 single base substitution T C intron_variant PBCA-DE X 107148057 107148057 single base substitution G A intron_variant PBCA-DE X 107156292 107156293 deletion of <=200bp AC - intron_variant PBCA-DE X 107156292 107156293 deletion of <=200bp AC - upstream_gene_variant PBCA-DE X 107157297 107157297 single base substitution A G intron_variant PBCA-DE X 107157297 107157297 single base substitution A G upstream_gene_variant PBCA-DE X 107159313 107159313 deletion of <=200bp T - frameshift_variant D385 PBCA-DE X 107159313 107159313 deletion of <=200bp T - upstream_gene_variant PBCA-DE X 107163113 107163113 single base substitution A G intron_variant PRAD-CA X 107069091 107069091 single base substitution C G intron_variant PRAD-CA X 107069091 107069091 single base substitution C G upstream_gene_variant PRAD-CA X 107088753 107088753 single base substitution A T downstream_gene_variant PRAD-CA X 107088753 107088753 single base substitution A T intron_variant PRAD-CA X 107088755 107088755 single base substitution A T downstream_gene_variant PRAD-CA X 107088755 107088755 single base substitution A T intron_variant PRAD-CA X 107088757 107088757 single base substitution T A downstream_gene_variant PRAD-CA X 107088757 107088757 single base substitution T A intron_variant PRAD-CA X 107133952 107133952 single base substitution T G intron_variant PRAD-CA X 107138446 107138446 single base substitution G T intron_variant PRAD-CA X 107146272 107146272 single base substitution C T intron_variant PRAD-CA X 107154198 107154198 single base substitution C G intron_variant PRAD-CA X 107159711 107159711 single base substitution G A intron_variant PRAD-CA X 107159711 107159711 single base substitution G A upstream_gene_variant PRAD-UK X 107123906 107123906 single base substitution A G intron_variant PRAD-UK X 107162713 107162713 single base substitution C T intron_variant PRAD-US X 107159358 107159358 single base substitution A G splice_region_variant PRAD-US X 107159358 107159358 single base substitution A G upstream_gene_variant RECA-EU X 107064140 107064140 single base substitution C A upstream_gene_variant RECA-EU X 107066536 107066536 single base substitution T A upstream_gene_variant RECA-EU X 107074814 107074814 single base substitution A T intron_variant RECA-EU X 107089315 107089315 single base substitution A C downstream_gene_variant RECA-EU X 107089315 107089315 single base substitution A C intron_variant RECA-EU X 107090322 107090322 single base substitution G A intron_variant RECA-EU X 107101609 107101609 single base substitution G A intron_variant RECA-EU X 107105136 107105136 single base substitution A G intron_variant RECA-EU X 107107632 107107632 single base substitution C A intron_variant RECA-EU X 107122281 107122281 single base substitution T C intron_variant RECA-EU X 107139680 107139680 single base substitution G A intron_variant RECA-EU X 107150317 107150317 single base substitution T G intron_variant RECA-EU X 107154546 107154546 single base substitution A C intron_variant RECA-EU X 107171029 107171029 single base substitution G C downstream_gene_variant RECA-EU X 107173823 107173823 single base substitution A T downstream_gene_variant SKCA-BR X 107066464 107066464 single base substitution A G upstream_gene_variant SKCA-BR X 107073048 107073048 single base substitution C T intron_variant SKCA-BR X 107074589 107074589 single base substitution C T intron_variant SKCA-BR X 107076395 107076395 single base substitution A T intron_variant SKCA-BR X 107079002 107079002 single base substitution A T intron_variant SKCA-BR X 107082858 107082858 single base substitution C T intron_variant SKCA-BR X 107083036 107083036 single base substitution G A intron_variant SKCA-BR X 107083687 107083687 single base substitution C G intron_variant SKCA-BR X 107088764 107088764 single base substitution C T downstream_gene_variant SKCA-BR X 107088764 107088764 single base substitution C T intron_variant SKCA-BR X 107089826 107089826 single base substitution C T intron_variant SKCA-BR X 107090471 107090471 single base substitution G A intron_variant SKCA-BR X 107092088 107092088 single base substitution T G intron_variant SKCA-BR X 107092676 107092676 single base substitution G A intron_variant SKCA-BR X 107093919 107093919 single base substitution C T intron_variant SKCA-BR X 107095124 107095124 single base substitution T C intron_variant SKCA-BR X 107096364 107096364 single base substitution C T intron_variant SKCA-BR X 107107027 107107027 single base substitution C T intron_variant SKCA-BR X 107107028 107107028 single base substitution C T intron_variant SKCA-BR X 107109652 107109658 deletion of <=200bp AACACAC - intron_variant SKCA-BR X 107114469 107114469 single base substitution G A intron_variant SKCA-BR X 107116712 107116712 single base substitution T G intron_variant SKCA-BR X 107118578 107118578 single base substitution G A intron_variant SKCA-BR X 107118972 107118972 single base substitution G A intron_variant SKCA-BR X 107122895 107122895 single base substitution C T intron_variant SKCA-BR X 107129877 107129877 single base substitution C T intron_variant SKCA-BR X 107133463 107133463 single base substitution C T intron_variant SKCA-BR X 107134848 107134848 single base substitution C T intron_variant SKCA-BR X 107135671 107135671 single base substitution G A intron_variant SKCA-BR X 107135938 107135938 single base substitution C T intron_variant SKCA-BR X 107143906 107143906 single base substitution C T intron_variant SKCA-BR X 107150307 107150307 single base substitution C T intron_variant SKCA-BR X 107153223 107153223 single base substitution C T intron_variant SKCA-BR X 107153364 107153364 single base substitution C T intron_variant SKCA-BR X 107154012 107154012 single base substitution C T intron_variant SKCA-BR X 107154065 107154065 single base substitution T C intron_variant SKCA-BR X 107157800 107157800 single base substitution C T intron_variant SKCA-BR X 107157800 107157800 single base substitution C T upstream_gene_variant SKCA-BR X 107158535 107158535 single base substitution C T intron_variant SKCA-BR X 107158535 107158535 single base substitution C T upstream_gene_variant SKCA-BR X 107161167 107161167 single base substitution C T intron_variant SKCA-BR X 107161402 107161402 single base substitution G A intron_variant SKCA-BR X 107163381 107163381 single base substitution A C intron_variant SKCA-BR X 107167168 107167168 single base substitution C T intron_variant SKCA-BR X 107169271 107169271 single base substitution T C intron_variant SKCA-BR X 107170856 107170856 single base substitution C T downstream_gene_variant SKCA-BR X 107170936 107170936 single base substitution G A downstream_gene_variant SKCA-BR X 107173674 107173674 single base substitution G A downstream_gene_variant SKCM-US X 107084038 107084038 single base substitution G A missense_variant S28N 83G>A SKCM-US X 107084038 107084038 single base substitution G A missense_variant S48N 143G>A SKCM-US X 107084242 107084242 single base substitution C T missense_variant S116F 347C>T SKCM-US X 107084242 107084242 single base substitution C T missense_variant S96F 287C>T SKCM-US X 107084487 107084487 single base substitution C T missense_variant H178Y 532C>T SKCM-US X 107084487 107084487 single base substitution C T missense_variant H198Y 592C>T SKCM-US X 107147220 107147220 single base substitution G A missense_variant M283I 849G>A SKCM-US X 107169345 107169345 single base substitution C T exon_variant SKCM-US X 107169345 107169345 single base substitution C T missense_variant P510L 1529C>T SKCM-US X 107169345 107169345 single base substitution C T missense_variant P540L 1619C>T SKCM-US X 107169963 107169963 single base substitution C T downstream_gene_variant SKCM-US X 107169963 107169963 single base substitution C T missense_variant S593F 1778C>T SKCM-US X 107169963 107169963 single base substitution C T missense_variant S623F 1868C>T SKCM-US X 107170186 107170186 single base substitution C T downstream_gene_variant SKCM-US X 107170186 107170186 single base substitution C T synonymous_variant S667S 2001C>T SKCM-US X 107170186 107170186 single base substitution C T synonymous_variant S697S 2091C>T SKCM-US X 107170226 107170226 single base substitution G A downstream_gene_variant SKCM-US X 107170226 107170226 single base substitution G A missense_variant D681N 2041G>A SKCM-US X 107170226 107170226 single base substitution G A missense_variant D711N 2131G>A STAD-US X 107084451 107084451 single base substitution C T missense_variant P166S 496C>T STAD-US X 107084451 107084451 single base substitution C T missense_variant P186S 556C>T STAD-US X 107147196 107147196 single base substitution T G synonymous_variant T275T 825T>G STAD-US X 107148791 107148791 single base substitution T C synonymous_variant A336A 1008T>C STAD-US X 107167580 107167580 single base substitution T A exon_variant STAD-US X 107167580 107167580 single base substitution T A stop_gained Y451* 1353T>A STAD-US X 107167580 107167580 single base substitution T A stop_gained Y481* 1443T>A STAD-US X 107169389 107169389 single base substitution C T exon_variant STAD-US X 107169389 107169389 single base substitution C T stop_gained Q525* 1573C>T STAD-US X 107169389 107169389 single base substitution C T stop_gained Q555* 1663C>T THCA-US X 107148766 107148766 single base substitution G A missense_variant R328Q 983G>A THCA-US X 107167660 107167660 single base substitution G A exon_variant THCA-US X 107167660 107167660 single base substitution G A missense_variant R478H 1433G>A THCA-US X 107167660 107167660 single base substitution G A missense_variant R508H 1523G>A UCEC-US X 107083938 107083938 single base substitution G A 5_prime_UTR_variant UCEC-US X 107083938 107083938 single base substitution G A missense_variant G15R 43G>A UCEC-US X 107084062 107084062 single base substitution G A missense_variant R36H 107G>A UCEC-US X 107084062 107084062 single base substitution G A missense_variant R56H 167G>A UCEC-US X 107084109 107084109 single base substitution A C missense_variant T52P 154A>C UCEC-US X 107084109 107084109 single base substitution A C missense_variant T72P 214A>C UCEC-US X 107084163 107084163 single base substitution C A missense_variant L70M 208C>A UCEC-US X 107084163 107084163 single base substitution C A missense_variant L90M 268C>A UCEC-US X 107084192 107084192 single base substitution G A synonymous_variant L79L 237G>A UCEC-US X 107084192 107084192 single base substitution G A synonymous_variant L99L 297G>A UCEC-US X 107084209 107084209 single base substitution G A missense_variant R105H 314G>A UCEC-US X 107084209 107084209 single base substitution G A missense_variant R85H 254G>A UCEC-US X 107084341 107084341 single base substitution A G missense_variant D129G 386A>G UCEC-US X 107084341 107084341 single base substitution A G missense_variant D149G 446A>G UCEC-US X 107084385 107084385 single base substitution C T missense_variant R144C 430C>T UCEC-US X 107084385 107084385 single base substitution C T missense_variant R164C 490C>T UCEC-US X 107084467 107084467 single base substitution G A missense_variant R171Q 512G>A UCEC-US X 107084467 107084467 single base substitution G A missense_variant R191Q 572G>A UCEC-US X 107084522 107084522 single base substitution T C synonymous_variant S189S 567T>C UCEC-US X 107084522 107084522 single base substitution T C synonymous_variant S209S 627T>C UCEC-US X 107148759 107148759 single base substitution C A missense_variant L326I 976C>A UCEC-US X 107159235 107159235 single base substitution C T synonymous_variant V359V 1077C>T UCEC-US X 107159235 107159235 single base substitution C T upstream_gene_variant UCEC-US X 107160757 107160757 single base substitution G A exon_variant UCEC-US X 107160757 107160757 single base substitution G A missense_variant R408Q 1223G>A UCEC-US X 107160908 107160908 single base substitution G A intron_variant UCEC-US X 107160908 107160908 single base substitution G A stop_gained W458* 1374G>A UCEC-US X 107160967 107160967 single base substitution G A intron_variant UCEC-US X 107160967 107160967 single base substitution G A missense_variant R478Q 1433G>A UCEC-US X 107167642 107167642 single base substitution G T exon_variant UCEC-US X 107167642 107167642 single base substitution G T missense_variant G472V 1415G>T UCEC-US X 107167642 107167642 single base substitution G T missense_variant G502V 1505G>T UCEC-US X 107167711 107167711 single base substitution A C exon_variant UCEC-US X 107167711 107167711 single base substitution A C missense_variant E495A 1484A>C UCEC-US X 107167711 107167711 single base substitution A C missense_variant E525A 1574A>C UCEC-US X 107169331 107169331 single base substitution C A exon_variant UCEC-US X 107169331 107169331 single base substitution C A synonymous_variant P505P 1515C>A UCEC-US X 107169331 107169331 single base substitution C A synonymous_variant P535P 1605C>A UCEC-US X 107169397 107169397 single base substitution G T exon_variant UCEC-US X 107169397 107169397 single base substitution G T missense_variant E527D 1581G>T UCEC-US X 107169397 107169397 single base substitution G T missense_variant E557D 1671G>T UCEC-US X 107169424 107169424 single base substitution C T exon_variant UCEC-US X 107169424 107169424 single base substitution C T synonymous_variant S536S 1608C>T UCEC-US X 107169424 107169424 single base substitution C T synonymous_variant S566S 1698C>T UCEC-US X 107169460 107169460 single base substitution T C exon_variant UCEC-US X 107169460 107169460 single base substitution T C synonymous_variant Y548Y 1644T>C UCEC-US X 107169460 107169460 single base substitution T C synonymous_variant Y578Y 1734T>C UCEC-US X 107169520 107169520 single base substitution T C exon_variant UCEC-US X 107169520 107169520 single base substitution T C synonymous_variant G568G 1704T>C UCEC-US X 107169520 107169520 single base substitution T C synonymous_variant G598G 1794T>C UCEC-US X 107169955 107169955 single base substitution G A downstream_gene_variant UCEC-US X 107169955 107169955 single base substitution G A synonymous_variant K590K 1770G>A UCEC-US X 107169955 107169955 single base substitution G A synonymous_variant K620K 1860G>A UCEC-US X 107170005 107170005 single base substitution G A downstream_gene_variant UCEC-US X 107170005 107170005 single base substitution G A missense_variant R607K 1820G>A UCEC-US X 107170005 107170005 single base substitution G A missense_variant R637K 1910G>A UCEC-US X 107170265 107170265 single base substitution G T downstream_gene_variant UCEC-US X 107170265 107170265 single base substitution G T stop_gained E694* 2080G>T UCEC-US X 107170265 107170265 single base substitution G T stop_gained E724* 2170G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AP-A056-01 COSM1598700 c.1860G>A p.K620K Substitution - coding silent 23:107926725-107926725 + TCGA-BR-8589-01 COSM4105681 c.1443T>A p.Y481* Substitution - Nonsense 23:107924350-107924350 + CSCC-47-T COSM4463893 c.130C>T p.P44S Substitution - Missense 23:107840795-107840795 + TCGA-AA-A01D-01 COSM299752 c.320G>T p.R107M Substitution - Missense 23:107841045-107841045 + KPOPBR-17-T COSM5964673 c.958C>A p.L320M Substitution - Missense 23:107905571-107905571 + HCT15 COSM2736452 c.786T>C p.L262L Substitution - coding silent 23:107903987-107903987 + TCGA-BR-4361-01 COSM4105679 c.1008T>C p.A336A Substitution - coding silent 23:107905561-107905561 + HCT15 COSM2736451 c.846T>C p.L282L Substitution - coding silent 23:107903987-107903987 + CHC2052T COSM4790077 c.263A>C p.K88T Substitution - Missense 23:107840988-107840988 + L17 COSM5369268 c.302G>A p.R101H Substitution - Missense 23:107841027-107841027 + 8031867 COSM3390372 c.2040T>C p.D680D Substitution - coding silent 23:107926905-107926905 + LC_S51 COSM1190606 c.945G>T p.L315F Substitution - Missense 23:107905498-107905498 + KU-9T COSM4909133 c.1537+3A>G p.? Unknown 23:107924507-107924507 + tumor_4166706 COSM3953126 c.492T>C p.R164R Substitution - coding silent 23:107841157-107841157 + ESCC_BICR_010T COSM5436079 c.425G>A p.C142Y Substitution - Missense 23:107841090-107841090 + TCGA-BT-A2LB-01 COSM3800326 c.550A>G p.N184D Substitution - Missense 23:107841275-107841275 + ESCC_13 COSM5625417 c.648C>T p.A216A Substitution - coding silent 23:107841313-107841313 + TCGA-G2-A3VY-01 COSM3800323 c.486T>A p.C162* Substitution - Nonsense 23:107841151-107841151 + S00836 COSM312872 c.2084G>T p.R695L Substitution - Missense 23:107927009-107927009 + TCGA-BG-A0MQ-01 COSM1112770 c.1514A>C p.E505A Substitution - Missense 23:107924481-107924481 + 49M COSM5591855 c.1074-1G>A p.? Unknown 23:107916001-107916001 + TCGA-DK-A2I4-01 COSM3800327 c.1708G>C p.E570Q Substitution - Missense 23:107926204-107926204 + TCGA-FV-A3R3-01 COSM4921889 c.346C>T p.R116* Substitution - Nonsense 23:107841071-107841071 + sysucc-1370T COSM1331373 c.628G>A p.A210T Substitution - Missense 23:107841353-107841353 + TCGA-CK-5916-01 COSM3694176 c.907C>T p.R303C Substitution - Missense 23:107905520-107905520 + TCGA-36-2543-01 COSM1331373 c.628G>A p.A210T Substitution - Missense 23:107841353-107841353 + TCGA-B5-A11E-01 COSM1112764 c.916C>A p.L306I Substitution - Missense 23:107905529-107905529 + 40_tFL COSM4171908 c.1075T>A p.F359I Substitution - Missense 23:107916063-107916063 + CSCC-6-T COSM4454151 c.419A>G p.Q140R Substitution - Missense 23:107841084-107841084 + S02347 COSM5694384 c.112G>T p.E38* Substitution - Nonsense 23:107840777-107840777 + T1154 COSM4702173 c.1148A>C p.N383T Substitution - Missense 23:107917512-107917512 + C086 COSM5534565 c.925G>A p.V309I Substitution - Missense 23:107905478-107905478 + YURTHE COSM1715353 c.2000T>C p.F667S Substitution - Missense 23:107926865-107926865 + TCGA-AZ-4315-01 COSM1464721 c.767A>G p.E256G Substitution - Missense 23:107854655-107854655 + EGC15 COSM5064242 c.1851A>G p.R617R Substitution - coding silent 23:107926776-107926776 + T3104 COSM4702176 c.2144G>A p.R715Q Substitution - Missense 23:107927009-107927009 + TCGA-BG-A0MQ-01 COSM1155203 c.1574A>C p.E525A Substitution - Missense 23:107924481-107924481 + TCGA-BR-8589-01 COSM4105682 c.1383T>A p.Y461* Substitution - Nonsense 23:107924350-107924350 + TCGA-D1-A167-01 COSM1598713 c.572G>A p.R191Q Substitution - Missense 23:107841237-107841237 + TCGA-G2-A2ES-01 COSM1315101 c.1555G>A p.D519N Substitution - Missense 23:107926111-107926111 + CN-AML-08-T COSM5426186 c.180A>C p.S60S Substitution - coding silent 23:107840845-107840845 + LS180 COSM2736460 c.841G>A p.A281T Substitution - Missense 23:107904042-107904042 + TCGA-ER-A2NG-06 COSM3556501 c.2131G>A p.D711N Substitution - Missense 23:107926996-107926996 + KPOPBR-17-T COSM5964672 c.1018C>A p.L340M Substitution - Missense 23:107905571-107905571 + TCGA-AA-3814-01 COSM270771 c.1007C>A p.A336D Substitution - Missense 23:107905620-107905620 + TCGA-G2-A2ES-01 COSM1315100 c.1615G>A p.D539N Substitution - Missense 23:107926111-107926111 + TCGA-AP-A051-01 COSM1598710 c.1077C>T p.V359V Substitution - coding silent 23:107916005-107916005 + ESCC_152 COSM5645547 c.508C>T p.L170F Substitution - Missense 23:107841233-107841233 + TCGA-AZ-4315-01 COSM1464723 c.2143C>T p.R715W Substitution - Missense 23:107927008-107927008 + ESO-139 COSM1257721 c.1389A>G p.S463S Substitution - coding silent 23:107924356-107924356 + TCGA-AP-A059-01 COSM1598702 c.1734T>C p.Y578Y Substitution - coding silent 23:107926230-107926230 + tumor_4166706 COSM3953127 c.432T>C p.R144R Substitution - coding silent 23:107841157-107841157 + TCGA-G9-6338-01 COSM3673309 c.1222C>A p.R408R Substitution - coding silent 23:107917526-107917526 + TCGA-28-2509-01 COSM3405822 c.234C>T p.T78T Substitution - coding silent 23:107840899-107840899 + C086 COSM2736397 c.64G>A p.E22K Substitution - Missense 23:107840729-107840729 + 8067182 COSM3781505 c.551A>T p.N184I Substitution - Missense 23:107841276-107841276 + 35M COSM5581661 c.1204C>T p.H402Y Substitution - Missense 23:107917568-107917568 + TCGA-EE-A29L-06 COSM3556500 c.1808C>T p.S603F Substitution - Missense 23:107926733-107926733 + TCGA-85-6561-01 COSM1151408 c.1223G>T p.R408L Substitution - Missense 23:107917527-107917527 + TCGA-EE-A2MD-06 COSM3556492 c.287C>T p.S96F Substitution - Missense 23:107841012-107841012 + TCGA-A2-A0YK-01 COSM1134329 c.1827C>G p.Y609* Substitution - Nonsense 23:107926692-107926692 + TCGA-D1-A167-01 COSM1112762 c.512G>A p.R171Q Substitution - Missense 23:107841237-107841237 + T3 COSM5345846 c.27C>T p.T9T Substitution - coding silent 23:107840752-107840752 + S02347 COSM5694385 c.52G>T p.E18* Substitution - Nonsense 23:107840777-107840777 + QC2-39-T2 COSM5655914 c.498G>C p.L166L Substitution - coding silent 23:107841163-107841163 + TCGA-AP-A056-01 COSM1112776 c.1800G>A p.K600K Substitution - coding silent 23:107926725-107926725 + TCGA-AP-A059-01 COSM1598706 c.1505G>T p.G502V Substitution - Missense 23:107924412-107924412 + 2_RESISTANT COSM1722250 c.1997C>T p.P666L Substitution - Missense 23:107926922-107926922 + TCGA-AX-A0J1-01 COSM1598718 c.167G>A p.R56H Substitution - Missense 23:107840832-107840832 + HCC099T COSM5816604 c.1773A>T p.S591S Substitution - coding silent 23:107926698-107926698 + S00838 COSM5661749 c.1367C>T p.A456V Substitution - Missense 23:107917731-107917731 + M004 COSM1740775 c.2066C>T p.P689L Substitution - Missense 23:107926931-107926931 + 1011 COSM5730494 c.1484_1485delAG p.N496fs*18 Deletion - Frameshift 23:107924391-107924392 + TCGA-AA-A00N-01 COSM276069 c.1925A>G p.N642S Substitution - Missense 23:107926850-107926850 + M004-PB COSM1740775 c.2066C>T p.P689L Substitution - Missense 23:107926931-107926931 + 064 COSM1741327 c.1058T>A p.I353N Substitution - Missense 23:107916046-107916046 + TCGA-D1-A163-01 COSM1598712 c.627T>C p.S209S Substitution - coding silent 23:107841292-107841292 + TCGA-CA-6717-01 COSM1464720 c.459G>T p.K153N Substitution - Missense 23:107841184-107841184 + TCGA-06-0882-01 COSM3405824 c.1380G>T p.E460D Substitution - Missense 23:107917684-107917684 + TCGA-32-1982-01 COSM2736430 c.447G>A p.T149T Substitution - coding silent 23:107841172-107841172 + BZ02 COSM5757699 c.873G>A p.E291E Substitution - coding silent 23:107904014-107904014 + CN-AML-NR-08-Dx COSM5426186 c.180A>C p.S60S Substitution - coding silent 23:107840845-107840845 + BZ02 COSM5757700 c.813G>A p.E271E Substitution - coding silent 23:107904014-107904014 + ESO-139 COSM1257720 c.1449A>G p.S483S Substitution - coding silent 23:107924356-107924356 + 1011 COSM5730495 c.1424_1425delAG p.N476fs*18 Deletion - Frameshift 23:107924391-107924392 + TCGA-FU-A3HY-01 COSM4838682 c.191C>G p.S64W Substitution - Missense 23:107840916-107840916 + S02397 COSM1315100 c.1615G>A p.D539N Substitution - Missense 23:107926111-107926111 + TCGA-CD-8531-01 COSM4105677 c.825T>G p.T275T Substitution - coding silent 23:107903966-107903966 + CHC2052T COSM4790076 c.323A>C p.K108T Substitution - Missense 23:107840988-107840988 + TCGA-B5-A11N-01 COSM1112756 c.154A>C p.T52P Substitution - Missense 23:107840879-107840879 + CN-AML-08-T COSM5426187 c.120A>C p.S40S Substitution - coding silent 23:107840845-107840845 + TCGA-EE-A3AA-06 COSM3556498 c.1559C>T p.P520L Substitution - Missense 23:107926115-107926115 + TCGA-BJ-A3PU-01 COSM3372000 c.923G>A p.R308Q Substitution - Missense 23:107905536-107905536 + TCGA-76-6663-01 COSM3405826 c.1428G>A p.A476A Substitution - coding silent 23:107917732-107917732 + ESCC_BICR_010T COSM5436080 c.365G>A p.C122Y Substitution - Missense 23:107841090-107841090 + TCGA-C8-A26Y-01 COSM3843153 c.1547T>G p.I516R Substitution - Missense 23:107924454-107924454 + MO_1232 COSM5547587 c.1554_1569del16 p.A519fs*6 Deletion - Frameshift 23:107924461-107924476 + PT13 COSM5896494 c.766G>A p.E256K Substitution - Missense 23:107854654-107854654 + DLD1 COSM2736451 c.846T>C p.L282L Substitution - coding silent 23:107903987-107903987 + TCGA-AP-A059-01 COSM1112774 c.1674T>C p.Y558Y Substitution - coding silent 23:107926230-107926230 + EGC15 COSM5064241 c.1911A>G p.R637R Substitution - coding silent 23:107926776-107926776 + TCGA-28-2509-01 COSM3405823 c.174C>T p.T58T Substitution - coding silent 23:107840899-107840899 + DLD1 COSM2736452 c.786T>C p.L262L Substitution - coding silent 23:107903987-107903987 + CHC2052T COSM4790076 c.323A>C p.K108T Substitution - Missense 23:107840988-107840988 + tumor_4131095 COSM5948707 c.883T>G p.L295V Substitution - Missense 23:107905496-107905496 + BRC35 COSM5028984 c.1073+1G>A p.? Unknown 23:107905627-107905627 + T1154 COSM4702172 c.1208A>C p.N403T Substitution - Missense 23:107917512-107917512 + TCGA-33-4533-01 COSM754697 c.1554G>T p.L518F Substitution - Missense 23:107926110-107926110 + TCGA-EJ-5514-01 COSM1132422 c.1140A>G p.T380T Substitution - coding silent 23:107916128-107916128 + C086 COSM5534563 c.277C>T p.L93F Substitution - Missense 23:107840942-107840942 + TCGA-EE-A29M-06 COSM2736532 c.2031C>T p.S677S Substitution - coding silent 23:107926956-107926956 + YUDUTY COSM1715349 c.1846G>A p.E616K Substitution - Missense 23:107926711-107926711 + TCGA-D1-A16Y-01 COSM1464716 c.314G>A p.R105H Substitution - Missense 23:107840979-107840979 + T2959 COSM4702174 c.2051T>A p.I684N Substitution - Missense 23:107926916-107926916 + TCGA-BT-A2LB-01 COSM3800325 c.610A>G p.N204D Substitution - Missense 23:107841275-107841275 + 26 COSM5748745 c.643C>T p.R215* Substitution - Nonsense 23:107841368-107841368 + TCGA-D1-A16Y-01 COSM1112759 c.254G>A p.R85H Substitution - Missense 23:107840979-107840979 + UMC11 COSM2736543 c.2170G>A p.E724K Substitution - Missense 23:107927035-107927035 + BD121T COSM5515902 c.2126T>G p.F709C Substitution - Missense 23:107926991-107926991 + TCGA-E3-A3DZ-01 COSM3372001 c.1523G>A p.R508H Substitution - Missense 23:107924430-107924430 + STC246 COSM5064243 c.1958G>A p.R653H Substitution - Missense 23:107926823-107926823 + TCGA-ER-A2NG-06 COSM3556502 c.2071G>A p.D691N Substitution - Missense 23:107926996-107926996 + TCGA-BS-A0UF-01 COSM1598709 c.1223G>A p.R408Q Substitution - Missense 23:107917527-107917527 + LUAD-CHTN-MAD06-00668 COSM360640 c.1883C>T p.P628L Substitution - Missense 23:107926808-107926808 + TCGA-AP-A059-01 COSM1112757 c.208C>A p.L70M Substitution - Missense 23:107840933-107840933 + TCGA-D1-A17Q-01 COSM1112760 c.386A>G p.D129G Substitution - Missense 23:107841111-107841111 + TCGA-BS-A0UF-01 COSM1112766 c.1163G>A p.R388Q Substitution - Missense 23:107917527-107917527 + TCGA-AP-A051-01 COSM1112775 c.1734T>C p.G578G Substitution - coding silent 23:107926290-107926290 + TCGA-AP-A059-01 COSM1598716 c.268C>A p.L90M Substitution - Missense 23:107840933-107840933 + TCGA-FV-A3R3-01 COSM4921888 c.406C>T p.R136* Substitution - Nonsense 23:107841071-107841071 + TCGA-C8-A26Y-01 COSM3843154 c.1487T>G p.I496R Substitution - Missense 23:107924454-107924454 + HCT-15 COSM1682797 c.451G>C p.V151L Substitution - Missense 23:107841116-107841116 + UMC11 COSM2736544 c.2110G>A p.E704K Substitution - Missense 23:107927035-107927035 + ESCC_13 COSM5625418 c.588C>T p.A196A Substitution - coding silent 23:107841313-107841313 + Gp2D COSM4628942 c.1438C>T p.L480L Substitution - coding silent 23:107924345-107924345 + SJHGG028_D COSM4969562 c.1597+10G>C p.? Unknown 23:107924514-107924514 + PT13 COSM5896495 c.706G>A p.E236K Substitution - Missense 23:107854654-107854654 + C086 COSM2736398 c.4G>A p.E2K Substitution - Missense 23:107840729-107840729 + LS174T COSM2736459 c.901G>A p.A301T Substitution - Missense 23:107904042-107904042 + ESCC_152 COSM5645546 c.568C>T p.L190F Substitution - Missense 23:107841233-107841233 + TCGA-AP-A059-01 COSM1598707 c.1433G>A p.R478Q Substitution - Missense 23:107917737-107917737 + TCGA-E2-A14N-01 COSM456455 c.1897C>G p.R633G Substitution - Missense 23:107926822-107926822 + T3104 COSM4702177 c.2084G>A p.R695Q Substitution - Missense 23:107927009-107927009 + TCGA-AX-A0J1-01 COSM1598714 c.490C>T p.R164C Substitution - Missense 23:107841155-107841155 + TCGA-BS-A0UV-01 COSM1598708 c.1374G>A p.W458* Substitution - Nonsense 23:107917678-107917678 + M004 COSM1740776 c.2006C>T p.P669L Substitution - Missense 23:107926931-107926931 + TCGA-E3-A3DZ-01 COSM3372002 c.1463G>A p.R488H Substitution - Missense 23:107924430-107924430 + CSCC-55-T COSM4467151 c.1473C>T p.P491P Substitution - coding silent 23:107924380-107924380 + YURTHE COSM1715354 c.1940T>C p.F647S Substitution - Missense 23:107926865-107926865 + LS174T COSM2736460 c.841G>A p.A281T Substitution - Missense 23:107904042-107904042 + STC246 COSM5064244 c.1898G>A p.R633H Substitution - Missense 23:107926823-107926823 + OSCC-GB_01230111 COSM5730495 c.1424_1425delAG p.N476fs*18 Deletion - Frameshift 23:107924391-107924392 + TCGA-AZ-4615-01 COSM5140157 c.864+7C>T p.? Unknown 23:107904072-107904072 + TCGA-AP-A059-01 COSM1112768 c.1373G>A p.R458Q Substitution - Missense 23:107917737-107917737 + HCT15 COSM1682798 c.391G>C p.V131L Substitution - Missense 23:107841116-107841116 + HCC099T COSM5816603 c.1833A>T p.S611S Substitution - coding silent 23:107926698-107926698 + TCGA-GN-A26C-01 COSM3556494 c.532C>T p.H178Y Substitution - Missense 23:107841257-107841257 + M004-PB COSM1740776 c.2006C>T p.P669L Substitution - Missense 23:107926931-107926931 + TCGA-FU-A3HY-01 COSM4838681 c.251C>G p.S84W Substitution - Missense 23:107840916-107840916 + PD22357a COSM5798680 c.524C>G p.P175R Substitution - Missense 23:107841189-107841189 + TCGA-EE-A29L-06 COSM3556499 c.1868C>T p.S623F Substitution - Missense 23:107926733-107926733 + TCGA-BR-7715-01 COSM2736436 c.496C>T p.P166S Substitution - Missense 23:107841221-107841221 + ESO-0013 COSM1257719 c.1084T>A p.F362I Substitution - Missense 23:107916072-107916072 + TCGA-BR-7715-01 COSM2736435 c.556C>T p.P186S Substitution - Missense 23:107841221-107841221 + TCGA-EE-A3AA-06 COSM3556497 c.1619C>T p.P540L Substitution - Missense 23:107926115-107926115 + TCGA-BS-A0UV-01 COSM1112778 c.2110G>T p.E704* Substitution - Nonsense 23:107927035-107927035 + TCGA-EE-A2MD-06 COSM3556491 c.347C>T p.S116F Substitution - Missense 23:107841012-107841012 + TCGA-AX-A0J1-01 COSM240668 c.107G>A p.R36H Substitution - Missense 23:107840832-107840832 + WA16 COSM240668 c.107G>A p.R36H Substitution - Missense 23:107840832-107840832 + S01578 COSM5670743 c.1435A>G p.T479A Substitution - Missense 23:107924402-107924402 + 2_PRE-TREATMENT COSM1722250 c.1997C>T p.P666L Substitution - Missense 23:107926922-107926922 + 8067182 COSM3781504 c.611A>T p.N204I Substitution - Missense 23:107841276-107841276 + KM12 COSM2736490 c.1347C>T p.S449S Substitution - coding silent 23:107917711-107917711 + QC2-39-T2 COSM5655915 c.438G>C p.L146L Substitution - coding silent 23:107841163-107841163 + 278T COSM4382420 c.667C>T p.R223C Substitution - Missense 23:107841332-107841332 + TCGA-EE-A2GI-06 COSM3556490 c.83G>A p.S28N Substitution - Missense 23:107840808-107840808 + TCGA-DH-5143-01 COSM3973096 c.410G>A p.C137Y Substitution - Missense 23:107841135-107841135 + 2_PRE-TREATMENT COSM1722249 c.2057C>T p.P686L Substitution - Missense 23:107926922-107926922 + TCGA-CK-4951-01 COSM2736430 c.447G>A p.T149T Substitution - coding silent 23:107841172-107841172 + TCGA-BC-A10T-01 COSM4922967 c.1602A>G p.Q534Q Substitution - coding silent 23:107926098-107926098 + sysucc-1370T COSM1331372 c.688G>A p.A230T Substitution - Missense 23:107841353-107841353 + TCGA-EE-A2GI-06 COSM3556489 c.143G>A p.S48N Substitution - Missense 23:107840808-107840808 + TCGA-CA-6717-01 COSM1464719 c.519G>T p.K173N Substitution - Missense 23:107841184-107841184 + TCGA-D1-A17H-01 COSM1155202 c.297G>A p.L99L Substitution - coding silent 23:107840962-107840962 + T3 COSM5345845 c.87C>T p.T29T Substitution - coding silent 23:107840752-107840752 + TCGA-B5-A0JY-01 COSM1598699 c.1910G>A p.R637K Substitution - Missense 23:107926775-107926775 + TCGA-A2-A0YK-01 COSM456454 c.1767C>G p.Y589* Substitution - Nonsense 23:107926692-107926692 + 35M COSM5581660 c.1264C>T p.H422Y Substitution - Missense 23:107917568-107917568 + YUDUTY COSM1715350 c.1786G>A p.E596K Substitution - Missense 23:107926711-107926711 + TCGA-B5-A0JY-01 COSM1112755 c.43G>A p.G15R Substitution - Missense 23:107840708-107840708 + HCT-15 COSM1682798 c.391G>C p.V131L Substitution - Missense 23:107841116-107841116 + TCGA-AX-A05Z-01 COSM1112772 c.1611G>T p.E537D Substitution - Missense 23:107926167-107926167 + TCGA-AZ-4315-01 COSM1464724 c.2083C>T p.R695W Substitution - Missense 23:107927008-107927008 + LUAD-CHTN-MAD06-00668 COSM360639 c.440G>T p.R147L Substitution - Missense 23:107841165-107841165 + TCGA-D1-A17Q-01 COSM1598705 c.1605C>A p.P535P Substitution - coding silent 23:107926101-107926101 + TCGA-DH-5143-01 COSM3973095 c.470G>A p.C157Y Substitution - Missense 23:107841135-107841135 + TCGA-AZ-4315-01 COSM1464722 c.707A>G p.E236G Substitution - Missense 23:107854655-107854655 + TCGA-AA-3856-01 COSM295885 c.1368G>A p.A456A Substitution - coding silent 23:107917732-107917732 + TCGA-BR-8081-01 COSM4105684 c.1603C>T p.Q535* Substitution - Nonsense 23:107926159-107926159 + TCGA-G9-6338-01 COSM3673310 c.1162C>A p.R388R Substitution - coding silent 23:107917526-107917526 + C086 COSM5534564 c.217C>T p.L73F Substitution - Missense 23:107840942-107840942 + TCGA-BS-A0UV-01 COSM1598698 c.2170G>T p.E724* Substitution - Nonsense 23:107927035-107927035 + LC_S51 COSM1190607 c.885G>T p.L295F Substitution - Missense 23:107905498-107905498 + RK261_C01 COSM4778301 c.1360G>T p.A454S Substitution - Missense 23:107917724-107917724 + KM12 COSM2736489 c.1407C>T p.S469S Substitution - coding silent 23:107917711-107917711 + sysucc-1028T COSM5469080 c.98G>C p.C33S Substitution - Missense 23:107840763-107840763 + PT33 COSM5910042 c.1538-1G>A p.? Unknown 23:107926093-107926093 + CSCC-47-T COSM4463894 c.70C>T p.P24S Substitution - Missense 23:107840795-107840795 + TCGA-CK-5916-01 COSM3694175 c.967C>T p.R323C Substitution - Missense 23:107905520-107905520 + TCGA-13-2065-01 COSM1331370 c.752T>A p.V251D Substitution - Missense 23:107854640-107854640 + S02397 COSM1315101 c.1555G>A p.D519N Substitution - Missense 23:107926111-107926111 + CN-AML-NR-08-Dx COSM5426187 c.120A>C p.S40S Substitution - coding silent 23:107840845-107840845 + HCC2998 COSM2736420 c.347G>A p.R116Q Substitution - Missense 23:107841072-107841072 + KU-9T COSM4909132 c.1597+3A>G p.? Unknown 23:107924507-107924507 + TCGA-AX-A05Z-01 COSM1598704 c.1671G>T p.E557D Substitution - Missense 23:107926167-107926167 + CHC2052T COSM4790077 c.263A>C p.K88T Substitution - Missense 23:107840988-107840988 + 40_tFL COSM4171907 c.1135T>A p.F379I Substitution - Missense 23:107916063-107916063 + L17 COSM5369267 c.362G>A p.R121H Substitution - Missense 23:107841027-107841027 + TCGA-AP-A059-01 COSM1112769 c.1445G>T p.G482V Substitution - Missense 23:107924412-107924412 + 278T COSM4382421 c.607C>T p.R203C Substitution - Missense 23:107841332-107841332 + T2959 COSM4702175 c.1991T>A p.I664N Substitution - Missense 23:107926916-107926916 + BRC35 COSM5028985 c.1013+1G>A p.? Unknown 23:107905627-107905627 + YUDAB COSM1715351 c.1898A>G p.N633S Substitution - Missense 23:107926763-107926763 + TCGA-BC-A10T-01 COSM4922968 c.1542A>G p.Q514Q Substitution - coding silent 23:107926098-107926098 + S00838 COSM5661748 c.1427C>T p.A476V Substitution - Missense 23:107917731-107917731 + 26 COSM5748744 c.703C>T p.R235* Substitution - Nonsense 23:107841368-107841368 + TCGA-85-6561-01 COSM754698 c.1163G>T p.R388L Substitution - Missense 23:107917527-107917527 + TCGA-CD-8531-01 COSM4105678 c.765T>G p.T255T Substitution - coding silent 23:107903966-107903966 + ESO-0013 COSM1257718 c.1144T>A p.F382I Substitution - Missense 23:107916072-107916072 + TCGA-FR-A3YO-06 COSM3556496 c.789G>A p.M263I Substitution - Missense 23:107903990-107903990 + S01578 COSM5670742 c.1495A>G p.T499A Substitution - Missense 23:107924402-107924402 + YURAY COSM1598713 c.572G>A p.R191Q Substitution - Missense 23:107841237-107841237 + Gp2D COSM4628943 c.1378C>T p.L460L Substitution - coding silent 23:107924345-107924345 + YUDAB COSM1715352 c.1838A>G p.N613S Substitution - Missense 23:107926763-107926763 + H441 COSM1193604 c.494G>A p.C165Y Substitution - Missense 23:107841159-107841159 + TCGA-AP-A0LM-01 COSM1598703 c.1698C>T p.S566S Substitution - coding silent 23:107926194-107926194 + C086 COSM5534566 c.865G>A p.V289I Substitution - Missense 23:107905478-107905478 + TCGA-D1-A17Q-01 COSM1598715 c.446A>G p.D149G Substitution - Missense 23:107841111-107841111 + TCGA-06-0882-01 COSM3405825 c.1320G>T p.E440D Substitution - Missense 23:107917684-107917684 + S01542 COSM5669806 c.1244C>T p.S415F Substitution - Missense 23:107917548-107917548 + 278LT COSM4382420 c.667C>T p.R223C Substitution - Missense 23:107841332-107841332 + CSCC-11-T COSM2736413 c.348C>T p.S116S Substitution - coding silent 23:107841013-107841013 + CSCC-6-T COSM4454152 c.359A>G p.Q120R Substitution - Missense 23:107841084-107841084 + SJHGG028_D COSM4969563 c.1537+10G>C p.? Unknown 23:107924514-107924514 + TCGA-EE-A29M-06 COSM2736531 c.2091C>T p.S697S Substitution - coding silent 23:107926956-107926956 + TCGA-32-1982-01 COSM2736429 c.507G>A p.T169T Substitution - coding silent 23:107841172-107841172 + TCGA-B5-A11N-01 COSM1598717 c.214A>C p.T72P Substitution - Missense 23:107840879-107840879 + BD121T COSM5515903 c.2066T>G p.F689C Substitution - Missense 23:107926991-107926991 + CMML-01 COSM211004 c.559T>C p.C187R Substitution - Missense 23:107841284-107841284 + SA031 COSM213011 c.553A>T p.M185L Substitution - Missense 23:107841278-107841278 + PD22357a COSM5798681 c.464C>G p.P155R Substitution - Missense 23:107841189-107841189 + TCGA-D1-A17H-01 COSM1112758 c.237G>A p.L79L Substitution - coding silent 23:107840962-107840962 + HCT15 COSM1682797 c.451G>C p.V151L Substitution - Missense 23:107841116-107841116 + RK261_C01 COSM4778300 c.1420G>T p.A474S Substitution - Missense 23:107917724-107917724 + TCGA-AA-3844-01 COSM5113128 c.808G>C p.V270L Substitution - Missense 23:107904009-107904009 + TCGA-E2-A14N-01 COSM1490325 c.1957C>G p.R653G Substitution - Missense 23:107926822-107926822 + TCGA-G2-A3VY-01 COSM3800324 c.426T>A p.C142* Substitution - Nonsense 23:107841151-107841151 + tumor_4131095 COSM5948706 c.943T>G p.L315V Substitution - Missense 23:107905496-107905496 + TCGA-AP-A0LM-01 COSM1112773 c.1638C>T p.S546S Substitution - coding silent 23:107926194-107926194 + TCGA-BR-4361-01 COSM4105680 c.948T>C p.A316A Substitution - coding silent 23:107905561-107905561 + TCGA-76-6663-01 COSM295885 c.1368G>A p.A456A Substitution - coding silent 23:107917732-107917732 + TCGA-D1-A17Q-01 COSM1112771 c.1545C>A p.P515P Substitution - coding silent 23:107926101-107926101 + PT33 COSM5910041 c.1598-1G>A p.? Unknown 23:107926093-107926093 + 49M COSM5591856 c.1014-1G>A p.? Unknown 23:107916001-107916001 + HT115 COSM2736520 c.1907T>C p.V636A Substitution - Missense 23:107926832-107926832 + HCC2998 COSM2736419 c.407G>A p.R136Q Substitution - Missense 23:107841072-107841072 + sysucc-1028T COSM5469081 c.38G>C p.C13S Substitution - Missense 23:107840763-107840763 + OSCC-GB_01230111 COSM5730494 c.1484_1485delAG p.N496fs*18 Deletion - Frameshift 23:107924391-107924392 + TCGA-BS-A0UV-01 COSM1112767 c.1314G>A p.W438* Substitution - Nonsense 23:107917678-107917678 + TCGA-D1-A163-01 COSM1112763 c.567T>C p.S189S Substitution - coding silent 23:107841292-107841292 + TCGA-BJ-A3PU-01 COSM3371999 c.983G>A p.R328Q Substitution - Missense 23:107905536-107905536 + LUAD-RT-S01700 COSM378846 c.192G>C p.S64S Substitution - coding silent 23:107840917-107840917 + TCGA-BR-8081-01 COSM4105683 c.1663C>T p.Q555* Substitution - Nonsense 23:107926159-107926159 + TCGA-B5-A0JY-01 COSM1112777 c.1850G>A p.R617K Substitution - Missense 23:107926775-107926775 + 8031867 COSM3390373 c.1980T>C p.D660D Substitution - coding silent 23:107926905-107926905 + TCGA-AP-A051-01 COSM1112765 c.1017C>T p.V339V Substitution - coding silent 23:107916005-107916005 + TCGA-AX-A0J1-01 COSM1112761 c.430C>T p.R144C Substitution - Missense 23:107841155-107841155 + H441 COSM1193605 c.434G>A p.C145Y Substitution - Missense 23:107841159-107841159 + 2_RESISTANT COSM1722249 c.2057C>T p.P686L Substitution - Missense 23:107926922-107926922 + YURAY COSM1112762 c.512G>A p.R171Q Substitution - Missense 23:107841237-107841237 + CSCC-55-T COSM4467152 c.1413C>T p.P471P Substitution - coding silent 23:107924380-107924380 + TCGA-33-4533-01 COSM1151409 c.1614G>T p.L538F Substitution - Missense 23:107926110-107926110 + TCGA-DK-A2I4-01 COSM3800328 c.1648G>C p.E550Q Substitution - Missense 23:107926204-107926204 + 278LT COSM4382421 c.607C>T p.R203C Substitution - Missense 23:107841332-107841332 + 064 COSM1741326 c.1118T>A p.I373N Substitution - Missense 23:107916046-107916046 + TCGA-36-2543-01 COSM1331372 c.688G>A p.A230T Substitution - Missense 23:107841353-107841353 + MO_1232 COSM5547588 c.1494_1509del16 p.A499fs*6 Deletion - Frameshift 23:107924461-107924476 + TCGA-AP-A051-01 COSM1598701 c.1794T>C p.G598G Substitution - coding silent 23:107926290-107926290 + TCGA-GN-A26C-01 COSM3556493 c.592C>T p.H198Y Substitution - Missense 23:107841257-107841257 + TCGA-13-2065-01 COSM1331371 c.692T>A p.V231D Substitution - Missense 23:107854640-107854640 + TCGA-13-1501-01 COSM71645 c.253C>T p.R85C Substitution - Missense 23:107840978-107840978 + LS180 COSM2736459 c.901G>A p.A301T Substitution - Missense 23:107904042-107904042 + TCGA-B5-A11E-01 COSM1598711 c.976C>A p.L326I Substitution - Missense 23:107905529-107905529 + S01542 COSM5669807 c.1184C>T p.S395F Substitution - Missense 23:107917548-107917548 + TCGA-FR-A3YO-06 COSM3556495 c.849G>A p.M283I Substitution - Missense 23:107903990-107903990 + HT115 COSM2736519 c.1967T>C p.V656A Substitution - Missense 23:107926832-107926832 + CSCC-11-T COSM2736414 c.288C>T p.S96S Substitution - coding silent 23:107841013-107841013 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.12256 Xq22.3 300204

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.1597+186A>C X 107167920 CLL A C Missense p.E525A c.1574A>C X 107167711 UCEC A G IntronicSNV . c.4+4531A>G X 107074191 CLL A G Missense p.N204D c.610A>G X 107084505 BLCA A G Synonymous p.K238K c.714A>G X 107084609 HNSC A G Synonymous p.S483S c.1449A>G X 107167586 ESCA A G Synonymous p.T400T c.1200A>G X 107159358 PRAD A T IntronicSNV . c.4+2747A>T X 107072407 CLL A T Missense p.M205L c.613A>T X 107084508 BRCA C A IntronicSNV . c.817-8567C>A X 107138621 HC C A Missense p.A356D c.1067C>A X 107148850 COREAD C A Missense p.P146Q c.437C>A X 107084332 LUAD C A Nonsense p.Y609* c.1827C>A X 107169922 HNSC C A Synonymous p.I700I c.2100C>A X 107170195 HNSC C A Synonymous p.R408R c.1222C>A X 107160756 PRAD CC TT Missense p.P117F c.349_350delinsTT X 107084244 CM C G Missense p.Q444E c.1330C>G X 107160864 CM C G Missense p.R653G c.1957C>G X 107170052 BRCA C G Nonsense p.Y609* c.1827C>G X 107169922 BRCA C T IntronicSNV . c.1598-216C>T X 107169108 CLL C T Missense p.H198Y c.592C>T X 107084487 CM C T Missense p.R105C c.313C>T X 107084208 OV C T Missense p.S116F c.347C>T X 107084242 CM C T Missense p.S623F c.1868C>T X 107169963 CM C T Nonsense p.Q228* c.682C>T X 107084577 LUAD C T Synonymous p.S697S c.2091C>T X 107170186 CM C T Synonymous p.T78T c.234C>T X 107084129 GBM GA AC Missense p.T125P c.372_373delinsAC X 107084267 CM G A IntronicSNV . c.1805+57G>A X 107169588 CM G A IntronicSNV . c.817-12882G>A X 107134306 PIA G A Missense p.C157Y c.470G>A X 107084365 LGG G A Missense p.D539N c.1615G>A X 107169341 BLCA G A Missense p.D711N c.2131G>A X 107170226 CM G A Missense p.E38K c.112G>A X 107084007 LUAD G A Missense p.R105H c.314G>A X 107084209 UCEC G A Missense p.R328Q c.983G>A X 107148766 THCA G A Missense p.R508H c.1523G>A X 107167660 THCA G A Missense p.S48N c.143G>A X 107084038 CM G A SpliceDonorSNV . c.1073+1G>A X 107148857 BRCA G A Synonymous p.A476A c.1428G>A X 107160962 COREAD G A Synonymous p.A476A c.1428G>A X 107160962 GBM G A Synonymous p.E557E c.1671G>A X 107169397 HNSC G A Synonymous p.L99L c.297G>A X 107084192 UCEC G A Synonymous p.T169T c.507G>A X 107084402 GBM G A Synonymous p.T169T c.507G>A X 107084402 HNSC G C Missense p.D377H c.1129G>C X 107159287 HNSC G C Missense p.E570Q c.1708G>C X 107169434 BLCA G C Missense p.R253P c.758G>C X 107097876 HNSC G T Missense p.E460D c.1380G>T X 107160914 GBM G T Missense p.K20N c.60G>T X 107083955 CM G T Missense p.L538F c.1614G>T X 107169340 LUSC G T Missense p.R127M c.380G>T X 107084275 COREAD G T Missense p.R408L c.1223G>T X 107160757 LUSC G T Missense p.R715L c.2144G>T X 107170239 SCLC G T Synonymous p.V595V c.1785G>T X 107169511 LUAD T A Missense p.F382I c.1144T>A X 107159302 ESCA T A Synonymous p.V309V c.927T>A X 107148710 CM T C Missense p.L93P c.278T>C X 107084173 LGG T C Synonymous p.S209S c.627T>C X 107084522 UCEC T G Missense p.C139G c.415T>G X 107084310 LUAD