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 ACC 1 46751559 46751559 + Missense_Mutation SNP G G A TCGA-OR-A5LJ-01A-11D-A29I-10 TCGA-OR-A5LJ-10A-01D-A29L-10 g.chr1:46751559G>A c.970C>T c.(970-972)Cgc>Tgc p.R324C BLCA 1 46744561 46744561 + Silent SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 g.chr1:46744561G>A c.2415C>T c.(2413-2415)ttC>ttT p.F805F BLCA 1 46744710 46744710 + Missense_Mutation SNP G G T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 g.chr1:46744710G>T c.2266C>A c.(2266-2268)Ctg>Atg p.L756M BLCA 1 46744864 46744864 + Missense_Mutation SNP G G C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 g.chr1:46744864G>C c.2209C>G c.(2209-2211)Ctg>Gtg p.L737V BLCA 1 46744891 46744891 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 g.chr1:46744891C>T c.2182G>A c.(2182-2184)Gag>Aag p.E728K BLCA 1 46745288 46745288 + Splice_Site SNP T T C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 g.chr1:46745288T>C c.e8-2 BLCA 1 46746098 46746098 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 g.chr1:46746098C>T c.1891G>A c.(1891-1893)Gat>Aat p.D631N BLCA 1 46746110 46746110 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 g.chr1:46746110C>T c.1879G>A c.(1879-1881)Gcc>Acc p.A627T BLCA 1 46746887 46746887 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 g.chr1:46746887G>A c.1666C>T c.(1666-1668)Cgt>Tgt p.R556C BLCA 1 46747009 46747009 + Nonsense_Mutation SNP G G C TCGA-FD-A62O-01A-11D-A30E-08 TCGA-FD-A62O-10A-01D-A30H-08 g.chr1:46747009G>C c.1544C>G c.(1543-1545)tCa>tGa p.S515* BLCA 1 46751045 46751045 + Missense_Mutation SNP A A T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr1:46751045A>T c.1484T>A c.(1483-1485)cTc>cAc p.L495H BLCA 1 46751426 46751426 + Missense_Mutation SNP G G C TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr1:46751426G>C c.1103C>G c.(1102-1104)tCt>tGt p.S368C BLCA 1 46751463 46751463 + Missense_Mutation SNP G G A TCGA-E7-A541-01A-11D-A26M-08 TCGA-E7-A541-10A-01D-A26K-08 g.chr1:46751463G>A c.1066C>T c.(1066-1068)Cgg>Tgg p.R356W BLCA 1 46751604 46751604 + Nonsense_Mutation SNP C C A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 g.chr1:46751604C>A c.925G>T c.(925-927)Gaa>Taa p.E309* BLCA 1 46751788 46751788 + Silent SNP G G A TCGA-DK-AA77-01A-11D-A391-08 TCGA-DK-AA77-10A-01D-A394-08 g.chr1:46751788G>A c.741C>T c.(739-741)ctC>ctT p.L247L BLCA 1 46751935 46751935 + Silent SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 g.chr1:46751935G>C c.594C>G c.(592-594)ctC>ctG p.L198L BLCA 1 46763283 46763283 + Nonsense_Mutation SNP C C T TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 g.chr1:46763283C>T c.309G>A c.(307-309)tgG>tgA p.W103* BLCA 1 46768814 46768814 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr1:46768814G>A c.181C>T c.(181-183)Ctg>Ttg p.L61L BRCA 1 46744688 46744688 + Missense_Mutation SNP G G T TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 g.chr1:46744688G>T c.2288C>A c.(2287-2289)gCc>gAc p.A763D BRCA 1 46745910 46745910 + Silent SNP G G A TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 g.chr1:46745910G>A c.1974C>T c.(1972-1974)gaC>gaT p.D658D BRCA 1 46746855 46746855 + Frame_Shift_Del DEL A A - TCGA-AR-A1AQ-01A-11D-A12Q-09 TCGA-AR-A1AQ-10A-01D-A12Q-09 g.chr1:46746855delA c.1698delT c.(1696-1698)cctfs p.P566fs BRCA 1 46751042 46751042 + Missense_Mutation SNP G G A TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 g.chr1:46751042G>A c.1487C>T c.(1486-1488)tCc>tTc p.S496F BRCA 1 46751084 46751084 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 g.chr1:46751084T>G c.1445A>C c.(1444-1446)cAc>cCc p.H482P BRCA 1 46751244 46751244 + Missense_Mutation SNP C C T TCGA-D8-A1XM-01A-21D-A14K-09 TCGA-D8-A1XM-10A-01D-A14K-09 g.chr1:46751244C>T c.1285G>A c.(1285-1287)Gag>Aag p.E429K BRCA 1 46751338 46751338 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr1:46751338C>G c.1191G>C c.(1189-1191)aaG>aaC p.K397N BRCA 1 46751384 46751384 + Missense_Mutation SNP G G A TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chr1:46751384G>A c.1145C>T c.(1144-1146)gCc>gTc p.A382V BRCA 1 46751495 46751495 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr1:46751495delG c.1034delC c.(1033-1035)ccafs p.P345fs BRCA 1 46752022 46752022 + Missense_Mutation SNP G G C TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 g.chr1:46752022G>C c.507C>G c.(505-507)atC>atG p.I169M BRCA 1 46763262 46763262 + Silent SNP C C G TCGA-BH-A0W7-01A-11D-A10Y-09 TCGA-BH-A0W7-10A-01D-A110-09 g.chr1:46763262C>G c.330G>C c.(328-330)ctG>ctC p.L110L BRCA 1 46763977 46763977 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 g.chr1:46763977C>T c.265G>A c.(265-267)Gag>Aag p.E89K CESC 1 46745946 46745946 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr1:46745946C>G c.1938G>C c.(1936-1938)ctG>ctC p.L646L CESC 1 46746151 46746151 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 g.chr1:46746151G>A c.1838C>T c.(1837-1839)tCg>tTg p.S613L CESC 1 46746968 46746968 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr1:46746968C>T c.1585G>A c.(1585-1587)Gac>Aac p.D529N CESC 1 46751848 46751848 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 g.chr1:46751848G>A c.681C>T c.(679-681)gtC>gtT p.V227V CESC 1 46752035 46752035 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 g.chr1:46752035C>T c.494G>A c.(493-495)cGa>cAa p.R165Q COAD 1 46744870 46744871 + Frame_Shift_Del DEL AG AG - TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr1:46744870_46744871delAG c.2202_2203delCT c.(2200-2205)ctctgtfs p.C735fs COAD 1 46745901 46745901 + Silent SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr1:46745901G>A c.1983C>T c.(1981-1983)agC>agT p.S661S COAD 1 46746204 46746204 + Silent SNP T T C TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr1:46746204T>C c.1785A>G c.(1783-1785)ggA>ggG p.G595G COAD 1 46746971 46746972 + Frame_Shift_Del DEL TG TG - TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr1:46746971_46746972delTG c.1581_1582delCA c.(1579-1584)ctcagtfs p.S528fs COAD 1 46751172 46751172 + Silent SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:46751172G>A c.1357C>T c.(1357-1359)Ctg>Ttg p.L453L COAD 1 46751189 46751189 + Missense_Mutation SNP C C A TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr1:46751189C>A c.1340G>T c.(1339-1341)tGc>tTc p.C447F COAD 1 46751228 46751229 + Frame_Shift_Ins INS - - C TCGA-A6-5660-01A-01D-1650-10 TCGA-A6-5660-10A-01D-1650-10 g.chr1:46751228_46751229insC c.1300_1301insG c.(1300-1302)gaafs p.E434fs COAD 1 46751268 46751268 + Missense_Mutation SNP C C T TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr1:46751268C>T c.1261G>A c.(1261-1263)Gct>Act p.A421T COAD 1 46751360 46751360 + Missense_Mutation SNP C C T TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr1:46751360C>T c.1169G>A c.(1168-1170)cGt>cAt p.R390H COAD 1 46751948 46751948 + Missense_Mutation SNP G G A TCGA-AA-3685-01A-02W-0900-09 TCGA-AA-3685-10A-01W-0900-09 g.chr1:46751948G>A c.581C>T c.(580-582)tCc>tTc p.S194F COAD 1 46751973 46751973 + Missense_Mutation SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr1:46751973T>C c.556A>G c.(556-558)Agg>Ggg p.R186G COAD 1 46763278 46763278 + Missense_Mutation SNP C C T TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr1:46763278C>T c.314G>A c.(313-315)cGa>cAa p.R105Q COAD 1 46763282 46763282 + Missense_Mutation SNP G G A TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr1:46763282G>A c.310C>T c.(310-312)Cgc>Tgc p.R104C COAD 1 46768922 46768922 + Missense_Mutation SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr1:46768922C>T c.73G>A c.(73-75)Gcc>Acc p.A25T COADREAD 1 46744870 46744871 + Frame_Shift_Del DEL AG AG - TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr1:46744870_46744871delAG c.2202_2203delCT c.(2200-2205)ctctgtfs p.C735fs COADREAD 1 46745170 46745170 + Missense_Mutation SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr1:46745170G>A c.2137C>T c.(2137-2139)Cgc>Tgc p.R713C COADREAD 1 46745901 46745901 + Silent SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr1:46745901G>A c.1983C>T c.(1981-1983)agC>agT p.S661S COADREAD 1 46746204 46746204 + Silent SNP T T C TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr1:46746204T>C c.1785A>G c.(1783-1785)ggA>ggG p.G595G COADREAD 1 46746971 46746972 + Frame_Shift_Del DEL TG TG - TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr1:46746971_46746972delTG c.1581_1582delCA c.(1579-1584)ctcagtfs p.S528fs COADREAD 1 46751172 46751172 + Silent SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:46751172G>A c.1357C>T c.(1357-1359)Ctg>Ttg p.L453L COADREAD 1 46751189 46751189 + Missense_Mutation SNP C C A TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr1:46751189C>A c.1340G>T c.(1339-1341)tGc>tTc p.C447F COADREAD 1 46751228 46751229 + Frame_Shift_Ins INS - - C TCGA-A6-5660-01A-01D-1650-10 TCGA-A6-5660-10A-01D-1650-10 g.chr1:46751228_46751229insC c.1300_1301insG c.(1300-1302)gaafs p.E434fs COADREAD 1 46751268 46751268 + Missense_Mutation SNP C C T TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr1:46751268C>T c.1261G>A c.(1261-1263)Gct>Act p.A421T COADREAD 1 46751360 46751360 + Missense_Mutation SNP C C T TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr1:46751360C>T c.1169G>A c.(1168-1170)cGt>cAt p.R390H COADREAD 1 46751948 46751948 + Missense_Mutation SNP G G A TCGA-AA-3685-01A-02W-0900-09 TCGA-AA-3685-10A-01W-0900-09 g.chr1:46751948G>A c.581C>T c.(580-582)tCc>tTc p.S194F COADREAD 1 46751973 46751973 + Missense_Mutation SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr1:46751973T>C c.556A>G c.(556-558)Agg>Ggg p.R186G COADREAD 1 46763278 46763278 + Missense_Mutation SNP C C T TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr1:46763278C>T c.314G>A c.(313-315)cGa>cAa p.R105Q COADREAD 1 46763282 46763282 + Missense_Mutation SNP G G A TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr1:46763282G>A c.310C>T c.(310-312)Cgc>Tgc p.R104C COADREAD 1 46768922 46768922 + Missense_Mutation SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr1:46768922C>T c.73G>A c.(73-75)Gcc>Acc p.A25T ESCA 1 46746081 46746081 + Silent SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 g.chr1:46746081C>T c.1908G>A c.(1906-1908)ttG>ttA p.L636L ESCA 1 46746102 46746102 + Silent SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 g.chr1:46746102G>C c.1887C>G c.(1885-1887)ccC>ccG p.P629P ESCA 1 46751588 46751588 + Missense_Mutation SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 g.chr1:46751588G>A c.941C>T c.(940-942)cCc>cTc p.P314L ESCA 1 46752057 46752057 + Missense_Mutation SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 g.chr1:46752057G>C c.472C>G c.(472-474)Ctg>Gtg p.L158V ESCA 1 46763994 46763994 + Missense_Mutation SNP T T C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 g.chr1:46763994T>C c.248A>G c.(247-249)tAt>tGt p.Y83C GBM 1 46745257 46745257 + Missense_Mutation SNP C C G TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 g.chr1:46745257C>G c.2050G>C c.(2050-2052)Gag>Cag p.E684Q GBMLGG 1 46745251 46745251 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:46745251G>A c.2056C>T c.(2056-2058)Cgc>Tgc p.R686C GBMLGG 1 46745257 46745257 + Missense_Mutation SNP C C G TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 g.chr1:46745257C>G c.2050G>C c.(2050-2052)Gag>Cag p.E684Q GBMLGG 1 46751289 46751289 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:46751289A>G c.1240T>C c.(1240-1242)Tat>Cat p.Y414H GBMLGG 1 46751494 46751495 + Frame_Shift_Ins INS - - G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:46751494_46751495insG c.1034_1035insC c.(1033-1035)ccafs p.P345fs GBMLGG 1 46752046 46752046 + Silent SNP G G A TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 g.chr1:46752046G>A c.483C>T c.(481-483)tcC>tcT p.S161S GBMLGG 1 46764040 46764040 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:46764040G>T c.202C>A c.(202-204)Ctc>Atc p.L68I HNSC 1 46745255 46745255 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr1:46745255C>T c.2052G>A c.(2050-2052)gaG>gaA p.E684E HNSC 1 46745880 46745880 + Silent SNP C C T TCGA-CR-5243-01A-01D-1512-08 TCGA-CR-5243-10A-01D-1512-08 g.chr1:46745880C>T c.2004G>A c.(2002-2004)caG>caA p.Q668Q HNSC 1 46751227 46751227 + Silent SNP T T C TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 g.chr1:46751227T>C c.1302A>G c.(1300-1302)gaA>gaG p.E434E HNSC 1 46751399 46751399 + Missense_Mutation SNP G G A TCGA-F7-A623-01A-11D-A28R-08 TCGA-F7-A623-10A-01D-A28U-08 g.chr1:46751399G>A c.1130C>T c.(1129-1131)gCa>gTa p.A377V KIPAN 1 46744679 46744679 + Missense_Mutation SNP T T C TCGA-BP-4807-01A-01D-1373-10 TCGA-BP-4807-11A-01D-1373-10 g.chr1:46744679T>C c.2297A>G c.(2296-2298)cAc>cGc p.H766R KIRC 1 46744679 46744679 + Missense_Mutation SNP T T C TCGA-BP-4807-01A-01D-1373-10 TCGA-BP-4807-11A-01D-1373-10 g.chr1:46744679T>C c.2297A>G c.(2296-2298)cAc>cGc p.H766R LGG 1 46745251 46745251 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:46745251G>A c.2056C>T c.(2056-2058)Cgc>Tgc p.R686C LGG 1 46751289 46751289 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:46751289A>G c.1240T>C c.(1240-1242)Tat>Cat p.Y414H LGG 1 46751494 46751495 + Frame_Shift_Ins INS - - G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:46751494_46751495insG c.1034_1035insC c.(1033-1035)ccafs p.P345fs LGG 1 46752046 46752046 + Silent SNP G G A TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 g.chr1:46752046G>A c.483C>T c.(481-483)tcC>tcT p.S161S LGG 1 46764040 46764040 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:46764040G>T c.202C>A c.(202-204)Ctc>Atc p.L68I LIHC 1 46746117 46746117 + Silent SNP G G A TCGA-UB-A7ME-01A-11D-A33K-10 TCGA-UB-A7ME-10A-01D-A33K-10 g.chr1:46746117G>A c.1872C>T c.(1870-1872)gcC>gcT p.A624A LIHC 1 46751145 46751145 + Missense_Mutation SNP T T C TCGA-ZP-A9D1-01A-11D-A382-10 TCGA-ZP-A9D1-10B-01D-A385-10 g.chr1:46751145T>C c.1384A>G c.(1384-1386)Atc>Gtc p.I462V LUAD 1 46745195 46745195 + Silent SNP C C T TCGA-78-7542-01A-21D-2063-08 TCGA-78-7542-11A-01D-2063-08 g.chr1:46745195C>T c.2112G>A c.(2110-2112)ctG>ctA p.L704L LUAD 1 46745230 46745230 + Missense_Mutation SNP C C G TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr1:46745230C>G c.2077G>C c.(2077-2079)Gag>Cag p.E693Q LUAD 1 46746150 46746150 + Silent SNP C C A TCGA-55-6979-01A-11D-1945-08 TCGA-55-6979-11A-01D-1945-08 g.chr1:46746150C>A c.1839G>T c.(1837-1839)tcG>tcT p.S613S LUAD 1 46746159 46746159 + Silent SNP C C T TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr1:46746159C>T c.1830G>A c.(1828-1830)ctG>ctA p.L610L LUAD 1 46746874 46746874 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 g.chr1:46746874G>T c.1679C>A c.(1678-1680)cCa>cAa p.P560Q LUAD 1 46747043 46747043 + Missense_Mutation SNP T T C TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 g.chr1:46747043T>C c.1510A>G c.(1510-1512)Atc>Gtc p.I504V LUAD 1 46752036 46752036 + Silent SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr1:46752036G>T c.493C>A c.(493-495)Cga>Aga p.R165R LUAD 1 46763294 46763294 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 g.chr1:46763294G>C c.298C>G c.(298-300)Cag>Gag p.Q100E LUSC 1 46746910 46746910 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr1:46746910G>A c.1643C>T c.(1642-1644)cCc>cTc p.P548L LUSC 1 46763281 46763281 + Missense_Mutation SNP C C G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 g.chr1:46763281C>G c.311G>C c.(310-312)cGc>cCc p.R104P LUSC 1 46763301 46763301 + Silent SNP G G A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 g.chr1:46763301G>A c.291C>T c.(289-291)ctC>ctT p.L97L OV 1 46744680 46744680 + Missense_Mutation SNP G G A TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 g.chr1:46744680G>A c.2296C>T c.(2296-2298)Cac>Tac p.H766Y OV 1 46751997 46751997 + Missense_Mutation SNP C C T TCGA-04-1331-01A-01W-0486-08 TCGA-04-1331-10A-01W-0486-08 g.chr1:46751997C>T c.532G>A c.(532-534)Gag>Aag p.E178K OV 1 46752173 46752173 + Splice_Site SNP T T A TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 g.chr1:46752173T>A c.e4-2 PAAD 1 46745230 46745230 + Missense_Mutation SNP C C T TCGA-HV-A7OP-01A-11D-A33T-08 TCGA-HV-A7OP-10A-01D-A33W-08 g.chr1:46745230C>T c.2077G>A c.(2077-2079)Gag>Aag p.E693K PAAD 1 46752129 46752129 + Frame_Shift_Del DEL A A - TCGA-H8-A6C1-01A-11D-A32N-08 TCGA-H8-A6C1-10A-01D-A32N-08 g.chr1:46752129delA c.400delT c.(400-402)tccfs p.S134fs PAAD 1 46752129 46752129 + Frame_Shift_Del DEL A A - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 g.chr1:46752129delA c.400delT c.(400-402)tccfs p.S134fs PRAD 1 46745250 46745250 + Missense_Mutation SNP C C T TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr1:46745250C>T c.2057G>A c.(2056-2058)cGc>cAc p.R686H PRAD 1 46746931 46746931 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 g.chr1:46746931C>T c.1622G>A c.(1621-1623)cGt>cAt p.R541H PRAD 1 46751117 46751117 + Frame_Shift_Del DEL G G - TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 g.chr1:46751117delG c.1412delC c.(1411-1413)ccafs p.P471fs PRAD 1 46751151 46751151 + Missense_Mutation SNP G G A TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr1:46751151G>A c.1378C>T c.(1378-1380)Cgc>Tgc p.R460C PRAD 1 46751327 46751327 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 g.chr1:46751327C>T c.1202G>A c.(1201-1203)cGc>cAc p.R401H READ 1 46745170 46745170 + Missense_Mutation SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr1:46745170G>A c.2137C>T c.(2137-2139)Cgc>Tgc p.R713C SARC 1 46744895 46744895 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr1:46744895G>A c.2178C>T c.(2176-2178)ttC>ttT p.F726F SKCM 1 46745898 46745898 + Silent SNP C C T TCGA-FS-A1ZC-06A-11D-A197-08 TCGA-FS-A1ZC-10A-01D-A199-08 g.chr1:46745898C>T c.1986G>A c.(1984-1986)gaG>gaA p.E662E SKCM 1 46751328 46751328 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:46751328G>A c.1201C>T c.(1201-1203)Cgc>Tgc p.R401C SKCM 1 46751383 46751383 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr1:46751383G>A c.1146C>T c.(1144-1146)gcC>gcT p.A382A SKCM 1 46752129 46752129 + Frame_Shift_Del DEL A A - TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr1:46752129delA c.400delT c.(400-402)tccfs p.S134fs SKCM 1 46763234 46763234 + Splice_Site SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr1:46763234C>T c.e3+1

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 46739393 46739393 single base substitution C G downstream_gene_variant BLCA-CN 1 46739393 46739393 single base substitution C G intron_variant BLCA-US 1 46744710 46744710 single base substitution G T exon_variant BLCA-US 1 46744710 46744710 single base substitution G T intron_variant BLCA-US 1 46744710 46744710 single base substitution G T missense_variant L756M 2266C>A BLCA-US 1 46744864 46744864 single base substitution G C downstream_gene_variant BLCA-US 1 46744864 46744864 single base substitution G C exon_variant BLCA-US 1 46744864 46744864 single base substitution G C missense_variant L737V 2209C>G BLCA-US 1 46744891 46744891 single base substitution C T downstream_gene_variant BLCA-US 1 46744891 46744891 single base substitution C T exon_variant BLCA-US 1 46744891 46744891 single base substitution C T missense_variant E728K 2182G>A BLCA-US 1 46745288 46745288 single base substitution T C downstream_gene_variant BLCA-US 1 46745288 46745288 single base substitution T C splice_acceptor_variant BLCA-US 1 46746098 46746098 single base substitution C T downstream_gene_variant BLCA-US 1 46746098 46746098 single base substitution C T exon_variant BLCA-US 1 46746098 46746098 single base substitution C T missense_variant D631N 1891G>A BLCA-US 1 46746887 46746887 single base substitution G A downstream_gene_variant BLCA-US 1 46746887 46746887 single base substitution G A exon_variant BLCA-US 1 46746887 46746887 single base substitution G A missense_variant R556C 1666C>T BLCA-US 1 46746887 46746887 single base substitution G A upstream_gene_variant BLCA-US 1 46751935 46751935 single base substitution G C exon_variant BLCA-US 1 46751935 46751935 single base substitution G C synonymous_variant L198L 594C>G BLCA-US 1 46763283 46763283 single base substitution C T exon_variant BLCA-US 1 46763283 46763283 single base substitution C T stop_gained W103* 309G>A BLCA-US 1 46768814 46768814 single base substitution G A exon_variant BLCA-US 1 46768814 46768814 single base substitution G A synonymous_variant L61L 181C>T BLCA-US 1 46768814 46768814 single base substitution G A upstream_gene_variant BLCA-US 1 46769446 46769446 single base substitution T C upstream_gene_variant BOCA-UK 1 46740332 46740332 single base substitution G A downstream_gene_variant BOCA-UK 1 46740332 46740332 single base substitution G A intron_variant BRCA-EU 1 46723310 46723310 single base substitution C G downstream_gene_variant BRCA-EU 1 46726650 46726650 single base substitution C T downstream_gene_variant BRCA-EU 1 46727189 46727189 single base substitution C T intron_variant BRCA-EU 1 46728673 46728673 single base substitution T G intron_variant BRCA-EU 1 46729479 46729479 deletion of <=200bp T - intron_variant BRCA-EU 1 46730131 46730131 single base substitution C G intron_variant BRCA-EU 1 46730283 46730283 single base substitution G C intron_variant BRCA-EU 1 46731351 46731351 single base substitution G C intron_variant BRCA-EU 1 46731370 46731370 single base substitution G A intron_variant BRCA-EU 1 46734062 46734062 single base substitution G A intron_variant BRCA-EU 1 46736938 46736938 single base substitution C T intron_variant BRCA-EU 1 46737235 46737235 single base substitution C G intron_variant BRCA-EU 1 46738201 46738201 single base substitution C T intron_variant BRCA-EU 1 46741059 46741059 single base substitution C G downstream_gene_variant BRCA-EU 1 46741059 46741059 single base substitution C G intron_variant BRCA-EU 1 46741064 46741064 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 46741064 46741064 deletion of <=200bp A - intron_variant BRCA-EU 1 46741860 46741860 single base substitution G A downstream_gene_variant BRCA-EU 1 46741860 46741860 single base substitution G A intron_variant BRCA-EU 1 46742355 46742355 single base substitution C G downstream_gene_variant BRCA-EU 1 46742355 46742355 single base substitution C G intron_variant BRCA-EU 1 46742404 46742404 single base substitution C T downstream_gene_variant BRCA-EU 1 46742404 46742404 single base substitution C T intron_variant BRCA-EU 1 46742822 46742822 single base substitution T G downstream_gene_variant BRCA-EU 1 46742822 46742822 single base substitution T G intron_variant BRCA-EU 1 46744858 46744858 single base substitution T A downstream_gene_variant BRCA-EU 1 46744858 46744858 single base substitution T A exon_variant BRCA-EU 1 46744858 46744858 single base substitution T A missense_variant I739F 2215A>T BRCA-EU 1 46746336 46746336 single base substitution C T downstream_gene_variant BRCA-EU 1 46746336 46746336 single base substitution C T intron_variant BRCA-EU 1 46751976 46751976 single base substitution G A exon_variant BRCA-EU 1 46751976 46751976 single base substitution G A missense_variant R185C 553C>T BRCA-EU 1 46752858 46752858 deletion of <=200bp G - intron_variant BRCA-EU 1 46753137 46753137 single base substitution C G intron_variant BRCA-EU 1 46753540 46753540 single base substitution C T intron_variant BRCA-EU 1 46756116 46756116 single base substitution G C intron_variant BRCA-EU 1 46756215 46756215 single base substitution G C intron_variant BRCA-EU 1 46757092 46757092 single base substitution G C intron_variant BRCA-EU 1 46757147 46757147 single base substitution T C intron_variant BRCA-EU 1 46758001 46758001 single base substitution C A downstream_gene_variant BRCA-EU 1 46758001 46758001 single base substitution C A intron_variant BRCA-EU 1 46759026 46759026 single base substitution C G downstream_gene_variant BRCA-EU 1 46759026 46759026 single base substitution C G intron_variant BRCA-EU 1 46760084 46760084 single base substitution C G downstream_gene_variant BRCA-EU 1 46760084 46760084 single base substitution C G intron_variant BRCA-EU 1 46760139 46760139 single base substitution G T downstream_gene_variant BRCA-EU 1 46760139 46760139 single base substitution G T intron_variant BRCA-EU 1 46762090 46762090 insertion of <=200bp - AAACA downstream_gene_variant BRCA-EU 1 46762090 46762090 insertion of <=200bp - AAACA intron_variant BRCA-EU 1 46762487 46762487 single base substitution G A exon_variant BRCA-EU 1 46762487 46762487 single base substitution G A intron_variant BRCA-EU 1 46763294 46763294 single base substitution G C exon_variant BRCA-EU 1 46763294 46763294 single base substitution G C missense_variant Q100E 298C>G BRCA-EU 1 46763909 46763909 single base substitution G T intron_variant BRCA-EU 1 46765899 46765899 single base substitution G C exon_variant BRCA-EU 1 46765899 46765899 single base substitution G C intron_variant BRCA-EU 1 46765899 46765899 single base substitution G C upstream_gene_variant BRCA-EU 1 46766648 46766648 single base substitution C G intron_variant BRCA-EU 1 46766648 46766648 single base substitution C G upstream_gene_variant BRCA-EU 1 46766932 46766932 single base substitution G A intron_variant BRCA-EU 1 46766932 46766932 single base substitution G A upstream_gene_variant BRCA-EU 1 46767818 46767818 single base substitution G C intron_variant BRCA-EU 1 46767818 46767818 single base substitution G C upstream_gene_variant BRCA-EU 1 46769100 46769100 single base substitution T G 5_prime_UTR_variant BRCA-EU 1 46769100 46769100 single base substitution T G upstream_gene_variant BRCA-EU 1 46769627 46769627 single base substitution C T upstream_gene_variant BRCA-FR 1 46730077 46730077 single base substitution C G intron_variant BRCA-FR 1 46746336 46746336 single base substitution C T downstream_gene_variant BRCA-FR 1 46746336 46746336 single base substitution C T intron_variant BRCA-FR 1 46753137 46753137 single base substitution C G intron_variant BRCA-FR 1 46757092 46757092 single base substitution G C intron_variant BRCA-FR 1 46766932 46766932 single base substitution G A intron_variant BRCA-FR 1 46766932 46766932 single base substitution G A upstream_gene_variant BRCA-KR 1 46740348 46740348 single base substitution G C downstream_gene_variant BRCA-KR 1 46740348 46740348 single base substitution G C intron_variant BRCA-UK 1 46731351 46731351 single base substitution G C intron_variant BRCA-UK 1 46752858 46752858 deletion of <=200bp G - intron_variant BRCA-UK 1 46758001 46758001 single base substitution C A downstream_gene_variant BRCA-UK 1 46758001 46758001 single base substitution C A intron_variant BRCA-US 1 46727077 46727077 single base substitution C T splice_acceptor_variant BRCA-US 1 46738424 46738424 single base substitution T C intron_variant BRCA-US 1 46739837 46739837 single base substitution G A downstream_gene_variant BRCA-US 1 46739837 46739837 single base substitution G A intron_variant BRCA-US 1 46743834 46743834 single base substitution C A downstream_gene_variant BRCA-US 1 46743834 46743834 single base substitution C A intron_variant BRCA-US 1 46743953 46743953 single base substitution G T downstream_gene_variant BRCA-US 1 46743953 46743953 single base substitution G T intron_variant BRCA-US 1 46744490 46744490 insertion of <=200bp - A 3_prime_UTR_variant BRCA-US 1 46744490 46744490 insertion of <=200bp - A exon_variant BRCA-US 1 46744490 46744490 insertion of <=200bp - A intron_variant BRCA-US 1 46744688 46744688 single base substitution G T exon_variant BRCA-US 1 46744688 46744688 single base substitution G T intron_variant BRCA-US 1 46744688 46744688 single base substitution G T missense_variant A763D 2288C>A BRCA-US 1 46745910 46745910 single base substitution G A downstream_gene_variant BRCA-US 1 46745910 46745910 single base substitution G A exon_variant BRCA-US 1 46745910 46745910 single base substitution G A synonymous_variant D658D 1974C>T BRCA-US 1 46746855 46746855 deletion of <=200bp A - downstream_gene_variant BRCA-US 1 46746855 46746855 deletion of <=200bp A - exon_variant BRCA-US 1 46746855 46746855 deletion of <=200bp A - frameshift_variant P566 BRCA-US 1 46746855 46746855 deletion of <=200bp A - upstream_gene_variant BRCA-US 1 46751042 46751042 single base substitution G A exon_variant BRCA-US 1 46751042 46751042 single base substitution G A missense_variant S496F 1487C>T BRCA-US 1 46751042 46751042 single base substitution G A upstream_gene_variant BRCA-US 1 46751084 46751084 single base substitution T G exon_variant BRCA-US 1 46751084 46751084 single base substitution T G missense_variant H482P 1445A>C BRCA-US 1 46751084 46751084 single base substitution T G upstream_gene_variant BRCA-US 1 46751244 46751244 single base substitution C T exon_variant BRCA-US 1 46751244 46751244 single base substitution C T missense_variant E429K 1285G>A BRCA-US 1 46751244 46751244 single base substitution C T upstream_gene_variant BRCA-US 1 46751338 46751338 single base substitution C G exon_variant BRCA-US 1 46751338 46751338 single base substitution C G missense_variant K397N 1191G>C BRCA-US 1 46751338 46751338 single base substitution C G upstream_gene_variant BRCA-US 1 46751384 46751384 single base substitution G A exon_variant BRCA-US 1 46751384 46751384 single base substitution G A missense_variant A382V 1145C>T BRCA-US 1 46751384 46751384 single base substitution G A upstream_gene_variant BRCA-US 1 46751495 46751495 deletion of <=200bp G - exon_variant BRCA-US 1 46751495 46751495 deletion of <=200bp G - frameshift_variant P345 BRCA-US 1 46751495 46751495 deletion of <=200bp G - upstream_gene_variant BRCA-US 1 46752022 46752022 single base substitution G C exon_variant BRCA-US 1 46752022 46752022 single base substitution G C missense_variant I169M 507C>G BRCA-US 1 46763262 46763262 single base substitution C G exon_variant BRCA-US 1 46763262 46763262 single base substitution C G synonymous_variant L110L 330G>C BRCA-US 1 46763977 46763977 single base substitution C T exon_variant BRCA-US 1 46763977 46763977 single base substitution C T missense_variant E89K 265G>A BTCA-JP 1 46726876 46726876 single base substitution G T exon_variant BTCA-JP 1 46738401 46738403 deletion of <=200bp AGA - intron_variant BTCA-JP 1 46739739 46739739 single base substitution T A downstream_gene_variant BTCA-JP 1 46739739 46739739 single base substitution T A intron_variant BTCA-JP 1 46740266 46740266 single base substitution C A downstream_gene_variant BTCA-JP 1 46740266 46740266 single base substitution C A intron_variant CESC-US 1 46726876 46726876 insertion of <=200bp - T exon_variant CESC-US 1 46726877 46726877 deletion of <=200bp T - exon_variant CESC-US 1 46726987 46726987 single base substitution C G exon_variant CESC-US 1 46745946 46745946 single base substitution C G downstream_gene_variant CESC-US 1 46745946 46745946 single base substitution C G exon_variant CESC-US 1 46745946 46745946 single base substitution C G synonymous_variant L646L 1938G>C CESC-US 1 46746151 46746151 single base substitution G A downstream_gene_variant CESC-US 1 46746151 46746151 single base substitution G A exon_variant CESC-US 1 46746151 46746151 single base substitution G A missense_variant S613L 1838C>T CESC-US 1 46746968 46746968 single base substitution C T downstream_gene_variant CESC-US 1 46746968 46746968 single base substitution C T exon_variant CESC-US 1 46746968 46746968 single base substitution C T missense_variant D529N 1585G>A CESC-US 1 46746968 46746968 single base substitution C T upstream_gene_variant CESC-US 1 46750807 46750807 single base substitution C T exon_variant CESC-US 1 46750807 46750807 single base substitution C T intron_variant CESC-US 1 46750807 46750807 single base substitution C T upstream_gene_variant CESC-US 1 46751848 46751848 single base substitution G A exon_variant CESC-US 1 46751848 46751848 single base substitution G A synonymous_variant V227V 681C>T CESC-US 1 46752035 46752035 single base substitution C T exon_variant CESC-US 1 46752035 46752035 single base substitution C T missense_variant R165Q 494G>A CESC-US 1 46764081 46764081 single base substitution C T exon_variant CESC-US 1 46764081 46764081 single base substitution C T intron_variant CLLE-ES 1 46737926 46737926 single base substitution G T intron_variant CLLE-ES 1 46745906 46745906 single base substitution G C downstream_gene_variant CLLE-ES 1 46745906 46745906 single base substitution G C exon_variant CLLE-ES 1 46745906 46745906 single base substitution G C missense_variant Q660E 1978C>G CLLE-ES 1 46747716 46747716 single base substitution A G downstream_gene_variant CLLE-ES 1 46747716 46747716 single base substitution A G intron_variant CLLE-ES 1 46747716 46747716 single base substitution A G upstream_gene_variant CLLE-ES 1 46748379 46748379 single base substitution T G downstream_gene_variant CLLE-ES 1 46748379 46748379 single base substitution T G intron_variant CLLE-ES 1 46748379 46748379 single base substitution T G upstream_gene_variant CLLE-ES 1 46769775 46769775 single base substitution G T upstream_gene_variant COAD-US 1 46724371 46724371 single base substitution G A downstream_gene_variant COAD-US 1 46726478 46726478 single base substitution G A downstream_gene_variant COAD-US 1 46744870 46744871 deletion of <=200bp AG - downstream_gene_variant COAD-US 1 46744870 46744871 deletion of <=200bp AG - exon_variant COAD-US 1 46744870 46744871 deletion of <=200bp AG - frameshift_variant LC734 COAD-US 1 46745269 46745271 deletion of <=200bp AGA - disruptive_inframe_deletion FC679C COAD-US 1 46745269 46745271 deletion of <=200bp AGA - downstream_gene_variant COAD-US 1 46745269 46745271 deletion of <=200bp AGA - exon_variant COAD-US 1 46745901 46745901 single base substitution G A downstream_gene_variant COAD-US 1 46745901 46745901 single base substitution G A exon_variant COAD-US 1 46745901 46745901 single base substitution G A synonymous_variant S661S 1983C>T COAD-US 1 46746204 46746204 single base substitution T C downstream_gene_variant COAD-US 1 46746204 46746204 single base substitution T C exon_variant COAD-US 1 46746204 46746204 single base substitution T C synonymous_variant G595G 1785A>G COAD-US 1 46746971 46746972 deletion of <=200bp TG - downstream_gene_variant COAD-US 1 46746971 46746972 deletion of <=200bp TG - exon_variant COAD-US 1 46746971 46746972 deletion of <=200bp TG - frameshift_variant LS527 COAD-US 1 46746971 46746972 deletion of <=200bp TG - upstream_gene_variant COAD-US 1 46751189 46751189 single base substitution C A exon_variant COAD-US 1 46751189 46751189 single base substitution C A missense_variant C447F 1340G>T COAD-US 1 46751189 46751189 single base substitution C A upstream_gene_variant COAD-US 1 46751228 46751228 insertion of <=200bp - C exon_variant COAD-US 1 46751228 46751228 insertion of <=200bp - C frameshift_variant E434E? COAD-US 1 46751228 46751228 insertion of <=200bp - C upstream_gene_variant COAD-US 1 46751973 46751973 single base substitution T C exon_variant COAD-US 1 46751973 46751973 single base substitution T C missense_variant R186G 556A>G COCA-CN 1 46725714 46725714 single base substitution C T downstream_gene_variant COCA-CN 1 46726877 46726877 single base substitution T G exon_variant COCA-CN 1 46733273 46733273 single base substitution G A exon_variant COCA-CN 1 46739900 46739900 single base substitution T C downstream_gene_variant COCA-CN 1 46739900 46739900 single base substitution T C intron_variant COCA-CN 1 46743544 46743544 single base substitution G A downstream_gene_variant COCA-CN 1 46743544 46743544 single base substitution G A intron_variant COCA-CN 1 46744585 46744585 single base substitution G T exon_variant COCA-CN 1 46744585 46744585 single base substitution G T intron_variant COCA-CN 1 46744585 46744585 single base substitution G T missense_variant D797E 2391C>A COCA-CN 1 46745069 46745069 single base substitution G T downstream_gene_variant COCA-CN 1 46745069 46745069 single base substitution G T exon_variant COCA-CN 1 46745069 46745069 single base substitution G T intron_variant COCA-CN 1 46745843 46745843 single base substitution G T downstream_gene_variant COCA-CN 1 46745843 46745843 single base substitution G T intron_variant COCA-CN 1 46747098 46747098 single base substitution G A downstream_gene_variant COCA-CN 1 46747098 46747098 single base substitution G A intron_variant COCA-CN 1 46747098 46747098 single base substitution G A upstream_gene_variant EOPC-DE 1 46758539 46758539 single base substitution C A downstream_gene_variant EOPC-DE 1 46758539 46758539 single base substitution C A intron_variant EOPC-DE 1 46768716 46768716 single base substitution C T intron_variant EOPC-DE 1 46768716 46768716 single base substitution C T upstream_gene_variant ESAD-UK 1 46727695 46727695 single base substitution G T intron_variant ESAD-UK 1 46732893 46732893 single base substitution G A intron_variant ESAD-UK 1 46735758 46735758 deletion of <=200bp T - intron_variant ESAD-UK 1 46738618 46738618 single base substitution T C intron_variant ESAD-UK 1 46739459 46739459 single base substitution C T downstream_gene_variant ESAD-UK 1 46739459 46739459 single base substitution C T intron_variant ESAD-UK 1 46739664 46739664 single base substitution G A downstream_gene_variant ESAD-UK 1 46739664 46739664 single base substitution G A intron_variant ESAD-UK 1 46740197 46740197 single base substitution C T downstream_gene_variant ESAD-UK 1 46740197 46740197 single base substitution C T intron_variant ESAD-UK 1 46742719 46742719 single base substitution G A downstream_gene_variant ESAD-UK 1 46742719 46742719 single base substitution G A intron_variant ESAD-UK 1 46742756 46742756 single base substitution C T downstream_gene_variant ESAD-UK 1 46742756 46742756 single base substitution C T intron_variant ESAD-UK 1 46745870 46745870 single base substitution G C downstream_gene_variant ESAD-UK 1 46745870 46745870 single base substitution G C exon_variant ESAD-UK 1 46745870 46745870 single base substitution G C missense_variant L672V 2014C>G ESAD-UK 1 46750708 46750708 single base substitution G T exon_variant ESAD-UK 1 46750708 46750708 single base substitution G T intron_variant ESAD-UK 1 46750708 46750708 single base substitution G T upstream_gene_variant ESAD-UK 1 46751613 46751613 single base substitution G A exon_variant ESAD-UK 1 46751613 46751613 single base substitution G A missense_variant R306C 916C>T ESAD-UK 1 46751613 46751613 single base substitution G A upstream_gene_variant ESAD-UK 1 46751714 46751714 single base substitution C T exon_variant ESAD-UK 1 46751714 46751714 single base substitution C T missense_variant G272D 815G>A ESAD-UK 1 46751714 46751714 single base substitution C T upstream_gene_variant ESAD-UK 1 46753312 46753312 single base substitution C T intron_variant ESAD-UK 1 46755296 46755296 single base substitution G A intron_variant ESAD-UK 1 46762089 46762089 single base substitution C G downstream_gene_variant ESAD-UK 1 46762089 46762089 single base substitution C G intron_variant ESAD-UK 1 46764556 46764556 single base substitution C G exon_variant ESAD-UK 1 46764556 46764556 single base substitution C G intron_variant ESAD-UK 1 46767263 46767263 single base substitution C A intron_variant ESAD-UK 1 46767263 46767263 single base substitution C A upstream_gene_variant ESAD-UK 1 46768736 46768743 deletion of <=200bp CCCGGCCG - intron_variant ESAD-UK 1 46768736 46768743 deletion of <=200bp CCCGGCCG - upstream_gene_variant ESAD-UK 1 46768746 46768746 insertion of <=200bp - G intron_variant ESAD-UK 1 46768746 46768746 insertion of <=200bp - G upstream_gene_variant ESAD-UK 1 46769048 46769048 single base substitution A C 5_prime_UTR_variant ESAD-UK 1 46769048 46769048 single base substitution A C upstream_gene_variant ESAD-UK 1 46769135 46769135 single base substitution C T 5_prime_UTR_variant ESAD-UK 1 46769135 46769135 single base substitution C T upstream_gene_variant ESAD-UK 1 46769185 46769185 single base substitution T G 5_prime_UTR_variant ESAD-UK 1 46769185 46769185 single base substitution T G upstream_gene_variant ESAD-UK 1 46769398 46769398 single base substitution C G upstream_gene_variant ESAD-UK 1 46773104 46773104 single base substitution C T upstream_gene_variant ESAD-UK 1 46773594 46773594 single base substitution T C upstream_gene_variant ESCA-CN 1 46726890 46726890 single base substitution C T exon_variant ESCA-CN 1 46745909 46745909 single base substitution A G downstream_gene_variant ESCA-CN 1 46745909 46745909 single base substitution A G exon_variant ESCA-CN 1 46745909 46745909 single base substitution A G missense_variant C659R 1975T>C GBM-US 1 46726266 46726266 single base substitution C T downstream_gene_variant GBM-US 1 46745257 46745257 single base substitution C G downstream_gene_variant GBM-US 1 46745257 46745257 single base substitution C G exon_variant GBM-US 1 46745257 46745257 single base substitution C G missense_variant E684Q 2050G>C KIRC-US 1 46726269 46726269 deletion of <=200bp C - downstream_gene_variant KIRC-US 1 46743873 46743873 single base substitution G A downstream_gene_variant KIRC-US 1 46743873 46743873 single base substitution G A intron_variant KIRC-US 1 46744679 46744679 single base substitution T C exon_variant KIRC-US 1 46744679 46744679 single base substitution T C intron_variant KIRC-US 1 46744679 46744679 single base substitution T C missense_variant H766R 2297A>G KIRP-US 1 46751890 46751890 single base substitution T G exon_variant KIRP-US 1 46751890 46751890 single base substitution T G synonymous_variant S213S 639A>C LAML-KR 1 46722037 46722037 single base substitution C T downstream_gene_variant LGG-US 1 46739410 46739410 single base substitution G A downstream_gene_variant LGG-US 1 46739410 46739410 single base substitution G A intron_variant LICA-FR 1 46726644 46726644 single base substitution G A downstream_gene_variant LICA-FR 1 46744500 46744500 single base substitution A C 3_prime_UTR_variant LICA-FR 1 46744500 46744500 single base substitution A C exon_variant LICA-FR 1 46744500 46744500 single base substitution A C intron_variant LICA-FR 1 46759717 46759717 single base substitution G A downstream_gene_variant LICA-FR 1 46759717 46759717 single base substitution G A intron_variant LIHC-US 1 46746117 46746117 single base substitution G A downstream_gene_variant LIHC-US 1 46746117 46746117 single base substitution G A exon_variant LIHC-US 1 46746117 46746117 single base substitution G A synonymous_variant A624A 1872C>T LINC-JP 1 46725970 46725970 single base substitution C A downstream_gene_variant LINC-JP 1 46743953 46743953 single base substitution G T downstream_gene_variant LINC-JP 1 46743953 46743953 single base substitution G T intron_variant LINC-JP 1 46744447 46744447 single base substitution T A 3_prime_UTR_variant LINC-JP 1 46744447 46744447 single base substitution T A exon_variant LINC-JP 1 46744447 46744447 single base substitution T A intron_variant LINC-JP 1 46751578 46751578 single base substitution T G exon_variant LINC-JP 1 46751578 46751578 single base substitution T G synonymous_variant A317A 951A>C LINC-JP 1 46751578 46751578 single base substitution T G upstream_gene_variant LINC-JP 1 46751654 46751654 single base substitution T C exon_variant LINC-JP 1 46751654 46751654 single base substitution T C missense_variant D292G 875A>G LINC-JP 1 46751654 46751654 single base substitution T C upstream_gene_variant LINC-JP 1 46751657 46751657 single base substitution C T exon_variant LINC-JP 1 46751657 46751657 single base substitution C T missense_variant R291Q 872G>A LINC-JP 1 46751657 46751657 single base substitution C T upstream_gene_variant LINC-JP 1 46754049 46754049 single base substitution G T intron_variant LINC-JP 1 46764404 46764404 single base substitution T C exon_variant LINC-JP 1 46764404 46764404 single base substitution T C intron_variant LINC-JP 1 46765122 46765122 single base substitution T C exon_variant LINC-JP 1 46765122 46765122 single base substitution T C intron_variant LINC-JP 1 46770803 46770803 single base substitution C T upstream_gene_variant LIRI-JP 1 46722748 46722748 single base substitution G A downstream_gene_variant LIRI-JP 1 46723972 46723972 single base substitution G A downstream_gene_variant LIRI-JP 1 46727672 46727672 single base substitution G A intron_variant LIRI-JP 1 46731644 46731644 single base substitution G C intron_variant LIRI-JP 1 46731795 46731795 single base substitution G A intron_variant LIRI-JP 1 46732162 46732162 single base substitution G A intron_variant LIRI-JP 1 46734200 46734200 single base substitution C T intron_variant LIRI-JP 1 46735237 46735237 single base substitution T C intron_variant LIRI-JP 1 46735839 46735839 single base substitution A T intron_variant LIRI-JP 1 46740901 46740901 single base substitution T C downstream_gene_variant LIRI-JP 1 46740901 46740901 single base substitution T C intron_variant LIRI-JP 1 46746374 46746374 single base substitution T C downstream_gene_variant LIRI-JP 1 46746374 46746374 single base substitution T C intron_variant LIRI-JP 1 46747358 46747358 single base substitution G A downstream_gene_variant LIRI-JP 1 46747358 46747358 single base substitution G A intron_variant LIRI-JP 1 46747358 46747358 single base substitution G A upstream_gene_variant LIRI-JP 1 46747402 46747402 single base substitution G C downstream_gene_variant LIRI-JP 1 46747402 46747402 single base substitution G C intron_variant LIRI-JP 1 46747402 46747402 single base substitution G C upstream_gene_variant LIRI-JP 1 46751191 46751191 single base substitution G A exon_variant LIRI-JP 1 46751191 46751191 single base substitution G A synonymous_variant S446S 1338C>T LIRI-JP 1 46751191 46751191 single base substitution G A upstream_gene_variant LIRI-JP 1 46751192 46751192 single base substitution C A exon_variant LIRI-JP 1 46751192 46751192 single base substitution C A missense_variant S446I 1337G>T LIRI-JP 1 46751192 46751192 single base substitution C A upstream_gene_variant LIRI-JP 1 46751392 46751392 single base substitution A G exon_variant LIRI-JP 1 46751392 46751392 single base substitution A G synonymous_variant A379A 1137T>C LIRI-JP 1 46751392 46751392 single base substitution A G upstream_gene_variant LIRI-JP 1 46753762 46753762 single base substitution C A intron_variant LIRI-JP 1 46754902 46754902 single base substitution G A intron_variant LIRI-JP 1 46762721 46762721 single base substitution T C exon_variant LIRI-JP 1 46762721 46762721 single base substitution T C intron_variant LIRI-JP 1 46763939 46763939 single base substitution G T intron_variant LIRI-JP 1 46765758 46765758 single base substitution G C exon_variant LIRI-JP 1 46765758 46765758 single base substitution G C intron_variant LIRI-JP 1 46765758 46765758 single base substitution G C upstream_gene_variant LIRI-JP 1 46766711 46766711 single base substitution T G intron_variant LIRI-JP 1 46766711 46766711 single base substitution T G upstream_gene_variant LUSC-KR 1 46724315 46724315 single base substitution A G downstream_gene_variant LUSC-KR 1 46727582 46727582 single base substitution A T intron_variant LUSC-KR 1 46732260 46732260 single base substitution G T intron_variant LUSC-KR 1 46741887 46741887 single base substitution T C downstream_gene_variant LUSC-KR 1 46741887 46741887 single base substitution T C intron_variant LUSC-KR 1 46742378 46742378 single base substitution C T downstream_gene_variant LUSC-KR 1 46742378 46742378 single base substitution C T intron_variant LUSC-KR 1 46756014 46756014 single base substitution G C intron_variant LUSC-KR 1 46757514 46757514 single base substitution G C downstream_gene_variant LUSC-KR 1 46757514 46757514 single base substitution G C intron_variant LUSC-KR 1 46757573 46757573 single base substitution G C downstream_gene_variant LUSC-KR 1 46757573 46757573 single base substitution G C intron_variant LUSC-KR 1 46757882 46757882 single base substitution G A downstream_gene_variant LUSC-KR 1 46757882 46757882 single base substitution G A intron_variant LUSC-KR 1 46758051 46758051 single base substitution G A downstream_gene_variant LUSC-KR 1 46758051 46758051 single base substitution G A intron_variant LUSC-KR 1 46758090 46758090 single base substitution G C downstream_gene_variant LUSC-KR 1 46758090 46758090 single base substitution G C intron_variant LUSC-KR 1 46758204 46758204 single base substitution G C downstream_gene_variant LUSC-KR 1 46758204 46758204 single base substitution G C intron_variant LUSC-KR 1 46758770 46758770 single base substitution C T downstream_gene_variant LUSC-KR 1 46758770 46758770 single base substitution C T intron_variant LUSC-KR 1 46759477 46759477 single base substitution C A downstream_gene_variant LUSC-KR 1 46759477 46759477 single base substitution C A intron_variant LUSC-KR 1 46770500 46770500 single base substitution G A upstream_gene_variant LUSC-US 1 46738151 46738151 single base substitution A G intron_variant LUSC-US 1 46746910 46746910 single base substitution G A downstream_gene_variant LUSC-US 1 46746910 46746910 single base substitution G A exon_variant LUSC-US 1 46746910 46746910 single base substitution G A missense_variant P548L 1643C>T LUSC-US 1 46746910 46746910 single base substitution G A upstream_gene_variant LUSC-US 1 46763281 46763281 single base substitution C G exon_variant LUSC-US 1 46763281 46763281 single base substitution C G missense_variant R104P 311G>C LUSC-US 1 46763301 46763301 single base substitution G A exon_variant LUSC-US 1 46763301 46763301 single base substitution G A synonymous_variant L97L 291C>T MALY-DE 1 46726569 46726569 single base substitution G A downstream_gene_variant MALY-DE 1 46728042 46728042 single base substitution G A intron_variant MALY-DE 1 46742384 46742384 single base substitution C G downstream_gene_variant MALY-DE 1 46742384 46742384 single base substitution C G intron_variant MALY-DE 1 46752765 46752765 single base substitution G A intron_variant MALY-DE 1 46759728 46759728 single base substitution T G downstream_gene_variant MALY-DE 1 46759728 46759728 single base substitution T G intron_variant MALY-DE 1 46763876 46763876 single base substitution C T intron_variant MALY-DE 1 46764300 46764300 single base substitution C T exon_variant MALY-DE 1 46764300 46764300 single base substitution C T intron_variant MALY-DE 1 46767016 46767016 single base substitution A G intron_variant MALY-DE 1 46767016 46767016 single base substitution A G upstream_gene_variant MALY-DE 1 46770405 46770405 single base substitution C G upstream_gene_variant MALY-DE 1 46772515 46772515 single base substitution C T upstream_gene_variant MALY-DE 1 46774206 46774206 single base substitution A G upstream_gene_variant MELA-AU 1 46721976 46721977 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 46722318 46722318 single base substitution A G downstream_gene_variant MELA-AU 1 46723724 46723724 single base substitution T C downstream_gene_variant MELA-AU 1 46724280 46724280 single base substitution C T downstream_gene_variant MELA-AU 1 46724307 46724307 single base substitution C T downstream_gene_variant MELA-AU 1 46725235 46725235 single base substitution A T downstream_gene_variant MELA-AU 1 46726167 46726167 single base substitution C T downstream_gene_variant MELA-AU 1 46726267 46726267 single base substitution G A downstream_gene_variant MELA-AU 1 46726343 46726343 single base substitution C T downstream_gene_variant MELA-AU 1 46726698 46726698 single base substitution C T downstream_gene_variant MELA-AU 1 46726721 46726721 single base substitution C T downstream_gene_variant MELA-AU 1 46727108 46727108 single base substitution C T intron_variant MELA-AU 1 46727320 46727320 single base substitution A G intron_variant MELA-AU 1 46727591 46727591 single base substitution C T intron_variant MELA-AU 1 46727652 46727652 single base substitution A T intron_variant MELA-AU 1 46727726 46727727 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 46728366 46728366 single base substitution G A intron_variant MELA-AU 1 46728470 46728471 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 46729155 46729155 single base substitution C T intron_variant MELA-AU 1 46729432 46729432 single base substitution T C intron_variant MELA-AU 1 46729946 46729946 single base substitution C T intron_variant MELA-AU 1 46729990 46729990 single base substitution C T intron_variant MELA-AU 1 46730902 46730902 single base substitution C T intron_variant MELA-AU 1 46731114 46731114 single base substitution T G intron_variant MELA-AU 1 46731312 46731312 single base substitution G T intron_variant MELA-AU 1 46731505 46731505 single base substitution C T intron_variant MELA-AU 1 46733415 46733415 single base substitution C T intron_variant MELA-AU 1 46734230 46734232 multiple base substitution (>=2bp and <=200bp) CCC TTT intron_variant MELA-AU 1 46734231 46734231 single base substitution C T intron_variant MELA-AU 1 46734232 46734232 single base substitution C T intron_variant MELA-AU 1 46734900 46734900 single base substitution C T intron_variant MELA-AU 1 46735250 46735250 single base substitution C T intron_variant MELA-AU 1 46735936 46735936 single base substitution G T intron_variant MELA-AU 1 46737063 46737063 single base substitution C T intron_variant MELA-AU 1 46737530 46737530 single base substitution C T intron_variant MELA-AU 1 46738462 46738462 single base substitution A C intron_variant MELA-AU 1 46739474 46739474 single base substitution C T downstream_gene_variant MELA-AU 1 46739474 46739474 single base substitution C T intron_variant MELA-AU 1 46739615 46739615 single base substitution G T downstream_gene_variant MELA-AU 1 46739615 46739615 single base substitution G T intron_variant MELA-AU 1 46740968 46740968 single base substitution C T downstream_gene_variant MELA-AU 1 46740968 46740968 single base substitution C T intron_variant MELA-AU 1 46741145 46741145 single base substitution C T downstream_gene_variant MELA-AU 1 46741145 46741145 single base substitution C T intron_variant MELA-AU 1 46741690 46741690 single base substitution T C downstream_gene_variant MELA-AU 1 46741690 46741690 single base substitution T C intron_variant MELA-AU 1 46742096 46742096 deletion of <=200bp G - downstream_gene_variant MELA-AU 1 46742096 46742096 deletion of <=200bp G - intron_variant MELA-AU 1 46742136 46742136 single base substitution C T downstream_gene_variant MELA-AU 1 46742136 46742136 single base substitution C T intron_variant MELA-AU 1 46742571 46742571 single base substitution C T downstream_gene_variant MELA-AU 1 46742571 46742571 single base substitution C T intron_variant MELA-AU 1 46742730 46742730 single base substitution T C downstream_gene_variant MELA-AU 1 46742730 46742730 single base substitution T C intron_variant MELA-AU 1 46745161 46745161 single base substitution C T downstream_gene_variant MELA-AU 1 46745161 46745161 single base substitution C T exon_variant MELA-AU 1 46745161 46745161 single base substitution C T splice_region_variant MELA-AU 1 46745399 46745399 single base substitution G A downstream_gene_variant MELA-AU 1 46745399 46745399 single base substitution G A intron_variant MELA-AU 1 46747605 46747605 single base substitution G A downstream_gene_variant MELA-AU 1 46747605 46747605 single base substitution G A intron_variant MELA-AU 1 46747605 46747605 single base substitution G A upstream_gene_variant MELA-AU 1 46749738 46749738 single base substitution G A downstream_gene_variant MELA-AU 1 46749738 46749738 single base substitution G A intron_variant MELA-AU 1 46749738 46749738 single base substitution G A upstream_gene_variant MELA-AU 1 46749757 46749757 single base substitution C T downstream_gene_variant MELA-AU 1 46749757 46749757 single base substitution C T intron_variant MELA-AU 1 46749757 46749757 single base substitution C T upstream_gene_variant MELA-AU 1 46751091 46751091 single base substitution G A exon_variant MELA-AU 1 46751091 46751091 single base substitution G A synonymous_variant L480L 1438C>T MELA-AU 1 46751091 46751091 single base substitution G A upstream_gene_variant MELA-AU 1 46752873 46752873 single base substitution C T intron_variant MELA-AU 1 46752996 46752996 single base substitution G A intron_variant MELA-AU 1 46753073 46753073 single base substitution C T intron_variant MELA-AU 1 46753334 46753334 single base substitution C T intron_variant MELA-AU 1 46756597 46756597 single base substitution T G intron_variant MELA-AU 1 46758616 46758617 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 46758616 46758617 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 46758617 46758617 single base substitution G A downstream_gene_variant MELA-AU 1 46758617 46758617 single base substitution G A intron_variant MELA-AU 1 46758785 46758785 single base substitution G A downstream_gene_variant MELA-AU 1 46758785 46758785 single base substitution G A intron_variant MELA-AU 1 46759976 46759976 single base substitution C A downstream_gene_variant MELA-AU 1 46759976 46759976 single base substitution C A intron_variant MELA-AU 1 46760038 46760038 single base substitution C T downstream_gene_variant MELA-AU 1 46760038 46760038 single base substitution C T intron_variant MELA-AU 1 46761321 46761321 single base substitution G A downstream_gene_variant MELA-AU 1 46761321 46761321 single base substitution G A intron_variant MELA-AU 1 46761692 46761692 single base substitution G A downstream_gene_variant MELA-AU 1 46761692 46761692 single base substitution G A intron_variant MELA-AU 1 46762090 46762094 deletion of <=200bp AAACA - downstream_gene_variant MELA-AU 1 46762090 46762094 deletion of <=200bp AAACA - intron_variant MELA-AU 1 46762168 46762168 single base substitution C T downstream_gene_variant MELA-AU 1 46762168 46762168 single base substitution C T intron_variant MELA-AU 1 46763262 46763262 single base substitution C A exon_variant MELA-AU 1 46763262 46763262 single base substitution C A synonymous_variant L110L 330G>T MELA-AU 1 46765149 46765149 single base substitution G A exon_variant MELA-AU 1 46765149 46765149 single base substitution G A intron_variant MELA-AU 1 46765792 46765792 single base substitution G A exon_variant MELA-AU 1 46765792 46765792 single base substitution G A intron_variant MELA-AU 1 46765792 46765792 single base substitution G A upstream_gene_variant MELA-AU 1 46767252 46767252 single base substitution G A intron_variant MELA-AU 1 46767252 46767252 single base substitution G A upstream_gene_variant MELA-AU 1 46769001 46769001 single base substitution G A 5_prime_UTR_variant MELA-AU 1 46769001 46769001 single base substitution G A upstream_gene_variant MELA-AU 1 46769003 46769003 single base substitution G A 5_prime_UTR_variant MELA-AU 1 46769003 46769003 single base substitution G A upstream_gene_variant MELA-AU 1 46769050 46769050 single base substitution G A 5_prime_UTR_variant MELA-AU 1 46769050 46769050 single base substitution G A upstream_gene_variant MELA-AU 1 46769134 46769134 single base substitution C T 5_prime_UTR_variant MELA-AU 1 46769134 46769134 single base substitution C T upstream_gene_variant MELA-AU 1 46769140 46769140 single base substitution C T 5_prime_UTR_variant MELA-AU 1 46769140 46769140 single base substitution C T upstream_gene_variant MELA-AU 1 46769147 46769147 single base substitution G A 5_prime_UTR_variant MELA-AU 1 46769147 46769147 single base substitution G A upstream_gene_variant MELA-AU 1 46769347 46769347 single base substitution C T upstream_gene_variant MELA-AU 1 46769991 46769991 single base substitution C T upstream_gene_variant MELA-AU 1 46771417 46771417 single base substitution C T upstream_gene_variant MELA-AU 1 46771667 46771667 single base substitution C T upstream_gene_variant MELA-AU 1 46771999 46771999 single base substitution G A upstream_gene_variant MELA-AU 1 46772136 46772137 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 46772472 46772472 single base substitution C T upstream_gene_variant MELA-AU 1 46772709 46772709 single base substitution C T upstream_gene_variant MELA-AU 1 46772808 46772808 single base substitution C T upstream_gene_variant MELA-AU 1 46772876 46772876 single base substitution C T upstream_gene_variant MELA-AU 1 46772876 46772877 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 46772974 46772974 single base substitution C T upstream_gene_variant MELA-AU 1 46773118 46773118 single base substitution C T upstream_gene_variant MELA-AU 1 46773133 46773133 single base substitution T A upstream_gene_variant MELA-AU 1 46773235 46773235 single base substitution C T upstream_gene_variant MELA-AU 1 46773370 46773370 single base substitution T G upstream_gene_variant MELA-AU 1 46773647 46773647 single base substitution C T upstream_gene_variant ORCA-IN 1 46727980 46727980 single base substitution G A intron_variant ORCA-IN 1 46746879 46746888 deletion of <=200bp GTCAACACGA - downstream_gene_variant ORCA-IN 1 46746879 46746888 deletion of <=200bp GTCAACACGA - exon_variant ORCA-IN 1 46746879 46746888 deletion of <=200bp GTCAACACGA - frameshift_variant IRVD555 ORCA-IN 1 46746879 46746888 deletion of <=200bp GTCAACACGA - upstream_gene_variant ORCA-IN 1 46760136 46760136 single base substitution G C downstream_gene_variant ORCA-IN 1 46760136 46760136 single base substitution G C intron_variant ORCA-IN 1 46761554 46761554 single base substitution C T downstream_gene_variant ORCA-IN 1 46761554 46761554 single base substitution C T intron_variant OV-AU 1 46726626 46726626 single base substitution A T downstream_gene_variant OV-AU 1 46728047 46728047 single base substitution C G intron_variant OV-AU 1 46733912 46733912 single base substitution C T intron_variant OV-AU 1 46744659 46744659 single base substitution A T exon_variant OV-AU 1 46744659 46744659 single base substitution A T intron_variant OV-AU 1 46744659 46744659 single base substitution A T missense_variant W773R 2317T>A OV-AU 1 46749088 46749088 single base substitution C T downstream_gene_variant OV-AU 1 46749088 46749088 single base substitution C T intron_variant OV-AU 1 46749088 46749088 single base substitution C T upstream_gene_variant OV-AU 1 46749817 46749817 single base substitution G T downstream_gene_variant OV-AU 1 46749817 46749817 single base substitution G T intron_variant OV-AU 1 46749817 46749817 single base substitution G T upstream_gene_variant OV-AU 1 46752583 46752583 single base substitution C A intron_variant OV-AU 1 46757064 46757064 single base substitution T C intron_variant OV-AU 1 46761262 46761262 single base substitution C T downstream_gene_variant OV-AU 1 46761262 46761262 single base substitution C T intron_variant OV-AU 1 46764757 46764757 single base substitution T G exon_variant OV-AU 1 46764757 46764757 single base substitution T G intron_variant OV-AU 1 46767079 46767079 single base substitution T A intron_variant OV-AU 1 46767079 46767079 single base substitution T A upstream_gene_variant OV-AU 1 46770001 46770001 single base substitution G C upstream_gene_variant OV-US 1 46743829 46743829 single base substitution A G downstream_gene_variant OV-US 1 46743829 46743829 single base substitution A G intron_variant PACA-AU 1 46722607 46722607 single base substitution G C downstream_gene_variant PACA-AU 1 46722835 46722835 single base substitution A C downstream_gene_variant PACA-AU 1 46724848 46724848 single base substitution C T downstream_gene_variant PACA-AU 1 46726877 46726877 single base substitution T G exon_variant PACA-AU 1 46736473 46736473 single base substitution G A intron_variant PACA-AU 1 46745077 46745077 single base substitution T A downstream_gene_variant PACA-AU 1 46745077 46745077 single base substitution T A exon_variant PACA-AU 1 46745077 46745077 single base substitution T A intron_variant PACA-AU 1 46746166 46746166 single base substitution G A downstream_gene_variant PACA-AU 1 46746166 46746166 single base substitution G A exon_variant PACA-AU 1 46746166 46746166 single base substitution G A missense_variant S608F 1823C>T PACA-AU 1 46747895 46747895 single base substitution G T downstream_gene_variant PACA-AU 1 46747895 46747895 single base substitution G T intron_variant PACA-AU 1 46747895 46747895 single base substitution G T upstream_gene_variant PACA-AU 1 46756602 46756602 single base substitution T G intron_variant PACA-AU 1 46758383 46758383 single base substitution C A downstream_gene_variant PACA-AU 1 46758383 46758383 single base substitution C A intron_variant PACA-AU 1 46762691 46762691 single base substitution G C exon_variant PACA-AU 1 46762691 46762691 single base substitution G C intron_variant PACA-AU 1 46764025 46764025 single base substitution G A exon_variant PACA-AU 1 46764025 46764025 single base substitution G A missense_variant L73F 217C>T PACA-AU 1 46765896 46765896 single base substitution C T exon_variant PACA-AU 1 46765896 46765896 single base substitution C T intron_variant PACA-AU 1 46765896 46765896 single base substitution C T upstream_gene_variant PACA-AU 1 46770710 46770710 single base substitution G A upstream_gene_variant PACA-AU 1 46773953 46773953 insertion of <=200bp - C upstream_gene_variant PACA-CA 1 46722122 46722122 single base substitution A G downstream_gene_variant PACA-CA 1 46725918 46725918 insertion of <=200bp - A downstream_gene_variant PACA-CA 1 46725921 46725922 deletion of <=200bp AG - downstream_gene_variant PACA-CA 1 46726372 46726372 single base substitution A C downstream_gene_variant PACA-CA 1 46731629 46731629 single base substitution T C intron_variant PACA-CA 1 46732495 46732495 single base substitution T C intron_variant PACA-CA 1 46733716 46733716 single base substitution A G intron_variant PACA-CA 1 46736786 46736786 single base substitution G A intron_variant PACA-CA 1 46736898 46736898 single base substitution T C intron_variant PACA-CA 1 46737377 46737377 single base substitution A T intron_variant PACA-CA 1 46737554 46737554 single base substitution G A intron_variant PACA-CA 1 46740198 46740198 single base substitution T G downstream_gene_variant PACA-CA 1 46740198 46740198 single base substitution T G intron_variant PACA-CA 1 46741640 46741640 single base substitution T A downstream_gene_variant PACA-CA 1 46741640 46741640 single base substitution T A intron_variant PACA-CA 1 46751308 46751308 single base substitution A G exon_variant PACA-CA 1 46751308 46751308 single base substitution A G synonymous_variant G407G 1221T>C PACA-CA 1 46751308 46751308 single base substitution A G upstream_gene_variant PACA-CA 1 46753308 46753308 single base substitution C T intron_variant PACA-CA 1 46763187 46763187 single base substitution T G exon_variant PACA-CA 1 46763187 46763187 single base substitution T G intron_variant PACA-CA 1 46765319 46765319 single base substitution C T exon_variant PACA-CA 1 46765319 46765319 single base substitution C T intron_variant PACA-CA 1 46767159 46767159 single base substitution G T intron_variant PACA-CA 1 46767159 46767159 single base substitution G T upstream_gene_variant PACA-CA 1 46768964 46768964 single base substitution T C missense_variant S11G 31A>G PACA-CA 1 46768964 46768964 single base substitution T C upstream_gene_variant PACA-CA 1 46769161 46769161 single base substitution G T 5_prime_UTR_variant PACA-CA 1 46769161 46769161 single base substitution G T upstream_gene_variant PACA-CA 1 46769307 46769307 single base substitution A G upstream_gene_variant PACA-CA 1 46770319 46770319 single base substitution A C upstream_gene_variant PAEN-AU 1 46768782 46768782 single base substitution A C intron_variant PAEN-AU 1 46768782 46768782 single base substitution A C upstream_gene_variant PAEN-IT 1 46725332 46725332 single base substitution C T downstream_gene_variant PAEN-IT 1 46753094 46753094 single base substitution C T intron_variant PAEN-IT 1 46755743 46755743 single base substitution T C intron_variant PBCA-DE 1 46724005 46724005 single base substitution T G downstream_gene_variant PBCA-DE 1 46750883 46750883 single base substitution G A exon_variant PBCA-DE 1 46750883 46750883 single base substitution G A intron_variant PBCA-DE 1 46750883 46750883 single base substitution G A upstream_gene_variant PBCA-DE 1 46758844 46758844 single base substitution G T downstream_gene_variant PBCA-DE 1 46758844 46758844 single base substitution G T intron_variant PBCA-DE 1 46761558 46761558 single base substitution G T downstream_gene_variant PBCA-DE 1 46761558 46761558 single base substitution G T intron_variant PRAD-CA 1 46763950 46763950 single base substitution A T intron_variant PRAD-CA 1 46763950 46763950 single base substitution A T splice_region_variant PRAD-CA 1 46768408 46768408 single base substitution T C intron_variant PRAD-CA 1 46768408 46768408 single base substitution T C upstream_gene_variant PRAD-UK 1 46740350 46740350 single base substitution T C downstream_gene_variant PRAD-UK 1 46740350 46740350 single base substitution T C intron_variant PRAD-UK 1 46741778 46741778 single base substitution C G downstream_gene_variant PRAD-UK 1 46741778 46741778 single base substitution C G intron_variant PRAD-UK 1 46750846 46750846 single base substitution C G exon_variant PRAD-UK 1 46750846 46750846 single base substitution C G intron_variant PRAD-UK 1 46750846 46750846 single base substitution C G upstream_gene_variant PRAD-UK 1 46766863 46766863 single base substitution C T intron_variant PRAD-UK 1 46766863 46766863 single base substitution C T upstream_gene_variant PRAD-UK 1 46767455 46767455 single base substitution G T intron_variant PRAD-UK 1 46767455 46767455 single base substitution G T upstream_gene_variant PRAD-US 1 46736426 46736426 single base substitution C T intron_variant PRAD-US 1 46745250 46745250 single base substitution C T downstream_gene_variant PRAD-US 1 46745250 46745250 single base substitution C T exon_variant PRAD-US 1 46745250 46745250 single base substitution C T missense_variant R686H 2057G>A PRAD-US 1 46746931 46746931 single base substitution C T downstream_gene_variant PRAD-US 1 46746931 46746931 single base substitution C T exon_variant PRAD-US 1 46746931 46746931 single base substitution C T missense_variant R541H 1622G>A PRAD-US 1 46746931 46746931 single base substitution C T upstream_gene_variant PRAD-US 1 46751117 46751117 deletion of <=200bp G - exon_variant PRAD-US 1 46751117 46751117 deletion of <=200bp G - frameshift_variant P471 PRAD-US 1 46751117 46751117 deletion of <=200bp G - upstream_gene_variant PRAD-US 1 46751151 46751151 single base substitution G A exon_variant PRAD-US 1 46751151 46751151 single base substitution G A missense_variant R460C 1378C>T PRAD-US 1 46751151 46751151 single base substitution G A upstream_gene_variant PRAD-US 1 46751327 46751327 single base substitution C T exon_variant PRAD-US 1 46751327 46751327 single base substitution C T missense_variant R401H 1202G>A PRAD-US 1 46751327 46751327 single base substitution C T upstream_gene_variant READ-US 1 46739369 46739369 single base substitution G A downstream_gene_variant READ-US 1 46739369 46739369 single base substitution G A intron_variant RECA-EU 1 46722452 46722452 single base substitution G A downstream_gene_variant RECA-EU 1 46735957 46735957 single base substitution C A intron_variant RECA-EU 1 46738893 46738893 single base substitution G C intron_variant RECA-EU 1 46741027 46741027 single base substitution T A downstream_gene_variant RECA-EU 1 46741027 46741027 single base substitution T A intron_variant RECA-EU 1 46756598 46756598 single base substitution T G intron_variant RECA-EU 1 46764578 46764578 single base substitution T G exon_variant RECA-EU 1 46764578 46764578 single base substitution T G intron_variant RECA-EU 1 46766129 46766129 single base substitution T G exon_variant RECA-EU 1 46766129 46766129 single base substitution T G intron_variant RECA-EU 1 46766129 46766129 single base substitution T G upstream_gene_variant RECA-EU 1 46767516 46767516 single base substitution G A intron_variant RECA-EU 1 46767516 46767516 single base substitution G A upstream_gene_variant SKCA-BR 1 46725080 46725080 single base substitution C T downstream_gene_variant SKCA-BR 1 46729526 46729526 single base substitution G A intron_variant SKCA-BR 1 46733105 46733105 single base substitution C T intron_variant SKCA-BR 1 46733890 46733890 single base substitution T G intron_variant SKCA-BR 1 46734796 46734796 single base substitution C T intron_variant SKCA-BR 1 46741625 46741625 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 1 46741625 46741625 insertion of <=200bp - TA intron_variant SKCA-BR 1 46746658 46746658 single base substitution T C downstream_gene_variant SKCA-BR 1 46746658 46746658 single base substitution T C intron_variant SKCA-BR 1 46756595 46756595 insertion of <=200bp - TTTG intron_variant SKCA-BR 1 46756598 46756598 single base substitution T G intron_variant SKCA-BR 1 46757292 46757292 single base substitution C T intron_variant SKCA-BR 1 46761012 46761012 single base substitution T C downstream_gene_variant SKCA-BR 1 46761012 46761012 single base substitution T C intron_variant SKCA-BR 1 46766902 46766902 single base substitution C T intron_variant SKCA-BR 1 46766902 46766902 single base substitution C T upstream_gene_variant SKCA-BR 1 46767777 46767777 single base substitution C T intron_variant SKCA-BR 1 46767777 46767777 single base substitution C T upstream_gene_variant SKCA-BR 1 46769233 46769233 single base substitution G A 5_prime_UTR_variant SKCA-BR 1 46769233 46769233 single base substitution G A upstream_gene_variant SKCA-BR 1 46772031 46772031 single base substitution T C upstream_gene_variant SKCA-BR 1 46772050 46772050 single base substitution C T upstream_gene_variant SKCA-BR 1 46772619 46772619 single base substitution A G upstream_gene_variant SKCA-BR 1 46774162 46774162 single base substitution C T upstream_gene_variant SKCM-US 1 46726410 46726410 single base substitution C T downstream_gene_variant SKCM-US 1 46733199 46733199 single base substitution G A exon_variant SKCM-US 1 46733247 46733247 single base substitution C T exon_variant SKCM-US 1 46736440 46736440 single base substitution C T intron_variant SKCM-US 1 46745898 46745898 single base substitution C T downstream_gene_variant SKCM-US 1 46745898 46745898 single base substitution C T exon_variant SKCM-US 1 46745898 46745898 single base substitution C T synonymous_variant E662E 1986G>A SKCM-US 1 46746939 46746939 single base substitution C T downstream_gene_variant SKCM-US 1 46746939 46746939 single base substitution C T exon_variant SKCM-US 1 46746939 46746939 single base substitution C T synonymous_variant E538E 1614G>A SKCM-US 1 46746939 46746939 single base substitution C T upstream_gene_variant SKCM-US 1 46751328 46751328 single base substitution G A exon_variant SKCM-US 1 46751328 46751328 single base substitution G A missense_variant R401C 1201C>T SKCM-US 1 46751328 46751328 single base substitution G A upstream_gene_variant SKCM-US 1 46751383 46751383 single base substitution G A exon_variant SKCM-US 1 46751383 46751383 single base substitution G A synonymous_variant A382A 1146C>T SKCM-US 1 46751383 46751383 single base substitution G A upstream_gene_variant SKCM-US 1 46752129 46752129 deletion of <=200bp A - exon_variant SKCM-US 1 46752129 46752129 deletion of <=200bp A - frameshift_variant S134 SKCM-US 1 46763234 46763234 single base substitution C T exon_variant SKCM-US 1 46763234 46763234 single base substitution C T splice_donor_variant STAD-US 1 46726490 46726490 single base substitution C T downstream_gene_variant STAD-US 1 46726527 46726527 single base substitution C T downstream_gene_variant STAD-US 1 46736382 46736382 single base substitution G A intron_variant STAD-US 1 46739122 46739122 single base substitution G A downstream_gene_variant STAD-US 1 46739122 46739122 single base substitution G A intron_variant STAD-US 1 46739833 46739833 single base substitution G A downstream_gene_variant STAD-US 1 46739833 46739833 single base substitution G A intron_variant STAD-US 1 46740228 46740228 single base substitution A G downstream_gene_variant STAD-US 1 46740228 46740228 single base substitution A G intron_variant STAD-US 1 46743801 46743801 single base substitution T C downstream_gene_variant STAD-US 1 46743801 46743801 single base substitution T C intron_variant STAD-US 1 46743909 46743909 single base substitution C T downstream_gene_variant STAD-US 1 46743909 46743909 single base substitution C T intron_variant STAD-US 1 46744617 46744617 single base substitution G A exon_variant STAD-US 1 46744617 46744617 single base substitution G A intron_variant STAD-US 1 46744617 46744617 single base substitution G A missense_variant R787W 2359C>T STAD-US 1 46745205 46745205 single base substitution T C downstream_gene_variant STAD-US 1 46745205 46745205 single base substitution T C exon_variant STAD-US 1 46745205 46745205 single base substitution T C missense_variant N701S 2102A>G STAD-US 1 46745250 46745250 single base substitution C T downstream_gene_variant STAD-US 1 46745250 46745250 single base substitution C T exon_variant STAD-US 1 46745250 46745250 single base substitution C T missense_variant R686H 2057G>A STAD-US 1 46745947 46745947 single base substitution A G downstream_gene_variant STAD-US 1 46745947 46745947 single base substitution A G exon_variant STAD-US 1 46745947 46745947 single base substitution A G missense_variant L646P 1937T>C STAD-US 1 46746843 46746843 single base substitution C G downstream_gene_variant STAD-US 1 46746843 46746843 single base substitution C G exon_variant STAD-US 1 46746843 46746843 single base substitution C G synonymous_variant G570G 1710G>C STAD-US 1 46746843 46746843 single base substitution C G upstream_gene_variant STAD-US 1 46746884 46746884 single base substitution C T downstream_gene_variant STAD-US 1 46746884 46746884 single base substitution C T exon_variant STAD-US 1 46746884 46746884 single base substitution C T missense_variant V557I 1669G>A STAD-US 1 46746884 46746884 single base substitution C T upstream_gene_variant STAD-US 1 46751402 46751402 single base substitution C T exon_variant STAD-US 1 46751402 46751402 single base substitution C T missense_variant R376Q 1127G>A STAD-US 1 46751402 46751402 single base substitution C T upstream_gene_variant STAD-US 1 46751470 46751470 single base substitution G A exon_variant STAD-US 1 46751470 46751470 single base substitution G A synonymous_variant G353G 1059C>T STAD-US 1 46751470 46751470 single base substitution G A upstream_gene_variant STAD-US 1 46751495 46751495 insertion of <=200bp - G exon_variant STAD-US 1 46751495 46751495 insertion of <=200bp - G frameshift_variant P345P? STAD-US 1 46751495 46751495 insertion of <=200bp - G upstream_gene_variant STAD-US 1 46751978 46751978 single base substitution T A exon_variant STAD-US 1 46751978 46751978 single base substitution T A missense_variant N184I 551A>T STAD-US 1 46768845 46768845 single base substitution G A exon_variant STAD-US 1 46768845 46768845 single base substitution G A synonymous_variant C50C 150C>T STAD-US 1 46768845 46768845 single base substitution G A upstream_gene_variant UCEC-US 1 46724371 46724371 single base substitution G A downstream_gene_variant UCEC-US 1 46725745 46725745 single base substitution C T downstream_gene_variant UCEC-US 1 46726623 46726623 single base substitution C T downstream_gene_variant UCEC-US 1 46738374 46738374 single base substitution G A intron_variant UCEC-US 1 46739888 46739888 single base substitution G T downstream_gene_variant UCEC-US 1 46739888 46739888 single base substitution G T intron_variant UCEC-US 1 46740259 46740259 single base substitution T C downstream_gene_variant UCEC-US 1 46740259 46740259 single base substitution T C intron_variant UCEC-US 1 46740345 46740345 single base substitution C T downstream_gene_variant UCEC-US 1 46740345 46740345 single base substitution C T intron_variant UCEC-US 1 46743910 46743910 single base substitution G A downstream_gene_variant UCEC-US 1 46743910 46743910 single base substitution G A intron_variant UCEC-US 1 46744469 46744469 single base substitution G A 3_prime_UTR_variant UCEC-US 1 46744469 46744469 single base substitution G A exon_variant UCEC-US 1 46744469 46744469 single base substitution G A intron_variant UCEC-US 1 46744478 46744478 single base substitution A G 3_prime_UTR_variant UCEC-US 1 46744478 46744478 single base substitution A G exon_variant UCEC-US 1 46744478 46744478 single base substitution A G intron_variant UCEC-US 1 46745901 46745901 single base substitution G A downstream_gene_variant UCEC-US 1 46745901 46745901 single base substitution G A exon_variant UCEC-US 1 46745901 46745901 single base substitution G A synonymous_variant S661S 1983C>T UCEC-US 1 46745931 46745931 single base substitution G T downstream_gene_variant UCEC-US 1 46745931 46745931 single base substitution G T exon_variant UCEC-US 1 46745931 46745931 single base substitution G T missense_variant F651L 1953C>A UCEC-US 1 46746143 46746143 single base substitution G A downstream_gene_variant UCEC-US 1 46746143 46746143 single base substitution G A exon_variant UCEC-US 1 46746143 46746143 single base substitution G A synonymous_variant L616L 1846C>T UCEC-US 1 46746986 46746986 single base substitution G A downstream_gene_variant UCEC-US 1 46746986 46746986 single base substitution G A exon_variant UCEC-US 1 46746986 46746986 single base substitution G A missense_variant R523C 1567C>T UCEC-US 1 46746986 46746986 single base substitution G A upstream_gene_variant UCEC-US 1 46751281 46751281 single base substitution G A exon_variant UCEC-US 1 46751281 46751281 single base substitution G A synonymous_variant F416F 1248C>T UCEC-US 1 46751281 46751281 single base substitution G A upstream_gene_variant UCEC-US 1 46751559 46751559 single base substitution G A exon_variant UCEC-US 1 46751559 46751559 single base substitution G A missense_variant R324C 970C>T UCEC-US 1 46751559 46751559 single base substitution G A upstream_gene_variant UCEC-US 1 46752007 46752007 single base substitution C A exon_variant UCEC-US 1 46752007 46752007 single base substitution C A missense_variant Q174H 522G>T UCEC-US 1 46768841 46768841 single base substitution G A exon_variant UCEC-US 1 46768841 46768841 single base substitution G A missense_variant R52W 154C>T UCEC-US 1 46768841 46768841 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-C8-A12K-01 COSM426383 c.507C>G p.I169M Substitution - Missense 1:46286350-46286350 - 2521252 COSM5888581 c.287-7C>T p.? Unknown 1:46297640-46297640 - CSCC-11-T COSM4531492 c.1794G>A p.R598R Substitution - coding silent 1:46280523-46280523 - HCC1008 COSM32477 c.298C>T p.Q100* Substitution - Nonsense 1:46297622-46297622 - TCGA-GC-A3BM-01 COSM3790088 c.1666C>T p.R556C Substitution - Missense 1:46281215-46281215 - TCGA-BS-A0UV-01 COSM910306 c.1248C>T p.F416F Substitution - coding silent 1:46285609-46285609 - TCGA-18-3419-01 COSM681897 c.311G>C p.R104P Substitution - Missense 1:46297609-46297609 - TCGA-AN-A0AK-01 COSM2191165 c.1034delC p.P345fs*44 Deletion - Frameshift 1:46285823-46285823 - PT49 COSM5934328 c.2288C>T p.A763V Substitution - Missense 1:46279016-46279016 - CSCC-7-T COSM4505779 c.701C>G p.S234C Substitution - Missense 1:46286156-46286156 - 680 COSM145597 c.1978C>G p.Q660E Substitution - Missense 1:46280234-46280234 - pfg068T COSM4754343 c.2021A>G p.E674G Substitution - Missense 1:46279614-46279614 - NCI-H835 COSM2191147 c.1718G>T p.G573V Substitution - Missense 1:46281163-46281163 - TCGA-BR-8487-01 COSM4008579 c.1669G>A p.V557I Substitution - Missense 1:46281212-46281212 - LC_C28 COSM1185456 c.1442G>A p.C481Y Substitution - Missense 1:46285415-46285415 - TCGA-GD-A3OP-01 COSM1296516 c.2182G>A p.E728K Substitution - Missense 1:46279219-46279219 - PCSI_0083_Pa_P COSM3377211 c.1221T>C p.G407G Substitution - coding silent 1:46285636-46285636 - CSCC-44-T COSM4465312 c.1377C>T p.F459F Substitution - coding silent 1:46285480-46285480 - TCGA-AP-A0LM-01 COSM910302 c.1983C>T p.S661S Substitution - coding silent 1:46280229-46280229 - TCGA-A2-A0T6-01 COSM3805441 c.1445A>C p.H482P Substitution - Missense 1:46285412-46285412 - TCGA-EJ-7782-01 COSM2191159 c.1202G>A p.R401H Substitution - Missense 1:46285655-46285655 - TCGA-BR-8360-01 COSM4008576 c.2057G>A p.R686H Substitution - Missense 1:46279578-46279578 - TCGA-D3-A51G-06 COSM3490297 c.357+1G>A p.? Unknown 1:46297562-46297562 - TCGA-BH-A0W7-01 COSM426384 c.330G>C p.L110L Substitution - coding silent 1:46297590-46297590 - RMS109_ COSM4986881 c.28C>G p.R10G Substitution - Missense 1:46303295-46303295 - QC2-32-T2 COSM5653786 c.1583G>A p.S528N Substitution - Missense 1:46281298-46281298 - HCC58 COSM1602494 c.872G>A p.R291Q Substitution - Missense 1:46285985-46285985 - BCN8 COSM910305 c.1567C>T p.R523C Substitution - Missense 1:46281314-46281314 - MedB-1 COSM4699093 c.1562G>A p.R521H Substitution - Missense 1:46281319-46281319 - T3225 COSM4699091 c.2282G>A p.R761H Substitution - Missense 1:46279022-46279022 - LIM2551 COSM4613884 c.400delT p.S134fs*116 Deletion - Frameshift 1:46286457-46286457 - TCGA-MY-A5BD-01 COSM4855548 c.494G>A p.R165Q Substitution - Missense 1:46286363-46286363 - NCI-H835 COSM2191148 c.1717G>T p.G573W Substitution - Missense 1:46281164-46281164 - TCGA-AZ-6601-01 COSM910302 c.1983C>T p.S661S Substitution - coding silent 1:46280229-46280229 - CLL049 COSM1290205 c.1205C>A p.T402N Substitution - Missense 1:46285652-46285652 - TCGA-BP-4807-01 COSM3360932 c.2297A>G p.H766R Substitution - Missense 1:46279007-46279007 - Pat_53_A COSM4613884 c.400delT p.S134fs*116 Deletion - Frameshift 1:46286457-46286457 - Pa05X COSM83902 c.205C>A p.P69T Substitution - Missense 1:46298365-46298365 - WSU-HN13 COSM4603498 c.1111_1112insTCT p.T371>IS Complex - insertion inframe 1:46285745-46285746 - TCGA-F4-6703-01 COSM1343132 c.1785A>G p.G595G Substitution - coding silent 1:46280532-46280532 - WSU-HN12 COSM4593350 c.1310G>T p.C437F Substitution - Missense 1:46285547-46285547 - HCC58T COSM1602493 c.875A>G p.D292G Substitution - Missense 1:46285982-46285982 - TCGA-IR-A3LH-01 COSM4833098 c.1585G>A p.D529N Substitution - Missense 1:46281296-46281296 - TCGA-A6-5666-01 COSM1343134 c.1340G>T p.C447F Substitution - Missense 1:46285517-46285517 - HCC58T COSM1602494 c.872G>A p.R291Q Substitution - Missense 1:46285985-46285985 - PTC-1C COSM3746188 c.951A>C p.A317A Substitution - coding silent 1:46285906-46285906 - SS6003117 COSM3665012 c.2014C>G p.L672V Substitution - Missense 1:46280198-46280198 - TCGA-EJ-7782-01 COSM3782479 c.1622G>A p.R541H Substitution - Missense 1:46281259-46281259 - ESCC_5 COSM5623054 c.1178G>A p.R393Q Substitution - Missense 1:46285679-46285679 - TCGA-EE-A2GI-06 COSM3490296 c.1146C>T p.A382A Substitution - coding silent 1:46285711-46285711 - TCGA-BH-A0HF-01 COSM3805443 c.1145C>T p.A382V Substitution - Missense 1:46285712-46285712 - TCGA-BS-A0TJ-01 COSM910309 c.154C>T p.R52W Substitution - Missense 1:46303169-46303169 - PCSI_0083_Pa_P_526 COSM3377211 c.1221T>C p.G407G Substitution - coding silent 1:46285636-46285636 - TCGA-FD-A3B6-01 COSM1296517 c.1891G>A p.D631N Substitution - Missense 1:46280426-46280426 - TCGA-J9-A52C-01 COSM4008576 c.2057G>A p.R686H Substitution - Missense 1:46279578-46279578 - PCSI_0083_Pa_X COSM3377211 c.1221T>C p.G407G Substitution - coding silent 1:46285636-46285636 - PTC-70C COSM3746188 c.951A>C p.A317A Substitution - coding silent 1:46285906-46285906 - TCGA-FS-A1ZC-06 COSM3490294 c.1986G>A p.E662E Substitution - coding silent 1:46280226-46280226 - TCGA-AA-3833-01 COSM271367 c.1261G>A p.A421T Substitution - Missense 1:46285596-46285596 - TCGA-A5-A0GW-01 COSM910307 c.970C>T p.R324C Substitution - Missense 1:46285887-46285887 - T3535 COSM4699094 c.881C>T p.A294V Substitution - Missense 1:46285976-46285976 - ICGC_0066 COSM218461 c.217C>T p.L73F Substitution - Missense 1:46298353-46298353 - TCGA-AA-3672-01 COSM266861 c.1357C>T p.L453L Substitution - coding silent 1:46285500-46285500 - UPCI:SCC090 COSM4593350 c.1310G>T p.C437F Substitution - Missense 1:46285547-46285547 - TCGA-AA-3685-01 COSM293196 c.581C>T p.S194F Substitution - Missense 1:46286276-46286276 - TCGA-24-2290-01 COSM71491 c.2296C>T p.H766Y Substitution - Missense 1:46279008-46279008 - ORL-48 COSM4593350 c.1310G>T p.C437F Substitution - Missense 1:46285547-46285547 - 8031681 COSM218461 c.217C>T p.L73F Substitution - Missense 1:46298353-46298353 - Gp5D COSM2191173 c.377C>T p.A126V Substitution - Missense 1:46286480-46286480 - RK135_C01 COSM3741296 c.1338C>T p.S446S Substitution - coding silent 1:46285519-46285519 - CoCM-1 COSM4620994 c.2345G>A p.R782K Substitution - Missense 1:46278959-46278959 - 063T COSM1730151 c.1640T>A p.L547Q Substitution - Missense 1:46281241-46281241 - I2L-P19Tb-Tumor-Organoid COSM4613884 c.400delT p.S134fs*116 Deletion - Frameshift 1:46286457-46286457 - LS411 COSM2191160 c.1201C>T p.R401C Substitution - Missense 1:46285656-46285656 - TCGA-GU-A42R-01 COSM3790087 c.2021-2A>G p.? Unknown 1:46279616-46279616 - SCC-15 COSM4593350 c.1310G>T p.C437F Substitution - Missense 1:46285547-46285547 - TCGA-BT-A3PH-01 COSM1296519 c.594C>G p.L198L Substitution - coding silent 1:46286263-46286263 - TCGA-HU-8602-01 COSM4008575 c.2102A>G p.N701S Substitution - Missense 1:46279533-46279533 - T3503 COSM4699092 c.1633C>T p.R545* Substitution - Nonsense 1:46281248-46281248 - BN22T COSM3746188 c.951A>C p.A317A Substitution - coding silent 1:46285906-46285906 - TCGA-D1-A17Q-01 COSM910306 c.1248C>T p.F416F Substitution - coding silent 1:46285609-46285609 - S02275 COSM5682711 c.484C>T p.R162C Substitution - Missense 1:46286373-46286373 - U031 COSM1683056 c.1832A>T p.K611M Substitution - Missense 1:46280485-46280485 - HN_62646 COSM124192 c.244A>T p.I82L Substitution - Missense 1:46298326-46298326 - NPC14F COSM4995460 c.1205C>T p.T402I Substitution - Missense 1:46285652-46285652 - TCGA-BR-8361-01 COSM4008581 c.1059C>T p.G353G Substitution - coding silent 1:46285798-46285798 - CSCC-5-T COSM4465384 c.1380C>T p.R460R Substitution - coding silent 1:46285477-46285477 - SNU-C2B COSM4613884 c.400delT p.S134fs*116 Deletion - Frameshift 1:46286457-46286457 - TCGA-EY-A1GS-01 COSM910304 c.1846C>T p.L616L Substitution - coding silent 1:46280471-46280471 - S02375 COSM5696360 c.2126T>A p.L709Q Substitution - Missense 1:46279509-46279509 - S00833 COSM312619 c.1591T>A p.F531I Substitution - Missense 1:46281290-46281290 - TCGA-BT-A20U-01 COSM414882 c.309G>A p.W103* Substitution - Nonsense 1:46297611-46297611 - ESCC_BICR_071T COSM5433477 c.1975T>C p.C659R Substitution - Missense 1:46280237-46280237 - SNUH_G16_S1 COSM3997555 c.1825G>A p.V609I Substitution - Missense 1:46280492-46280492 - TCGA-CD-A4MJ-01 COSM4008583 c.150C>T p.C50C Substitution - coding silent 1:46303173-46303173 - TCGA-AJ-A23M-01 COSM910303 c.1953C>A p.F651L Substitution - Missense 1:46280259-46280259 - CPCG0211-F1 COSM4880888 c.286+6T>A p.? Unknown 1:46298278-46298278 - WSU-HN13 COSM4593350 c.1310G>T p.C437F Substitution - Missense 1:46285547-46285547 - TCGA-HU-A4GT-01 COSM4008577 c.1937T>C p.L646P Substitution - Missense 1:46280275-46280275 - PD11368a COSM5786285 c.553C>T p.R185C Substitution - Missense 1:46286304-46286304 - ESO-1096 COSM1256823 c.367T>G p.C123G Substitution - Missense 1:46286490-46286490 - T3090 COSM3782479 c.1622G>A p.R541H Substitution - Missense 1:46281259-46281259 - SNUH_G22_S1 COSM3997556 c.481T>C p.S161P Substitution - Missense 1:46286376-46286376 - TCGA-UB-A7ME-01 COSM4910162 c.1872C>T p.A624A Substitution - coding silent 1:46280445-46280445 - TCGA-DK-A3X1-01 COSM3790089 c.181C>T p.L61L Substitution - coding silent 1:46303142-46303142 - TCGA-BT-A42C-01 COSM4390487 c.2266C>A p.L756M Substitution - Missense 1:46279038-46279038 - SNU-C1 COSM4650962 c.1774T>A p.L592M Substitution - Missense 1:46280543-46280543 - TCGA-04-1331-01 COSM71492 c.532G>A p.E178K Substitution - Missense 1:46286325-46286325 - TCGA-D8-A1JA-01 COSM3805442 c.1191G>C p.K397N Substitution - Missense 1:46285666-46285666 - TCGA-MY-A5BD-01 COSM4855769 c.681C>T p.V227V Substitution - coding silent 1:46286176-46286176 - TCGA-BT-A2LA-01 COSM1296518 c.631C>G p.Q211E Substitution - Missense 1:46286226-46286226 - TCGA-BR-8382-01 COSM4008574 c.2359C>T p.R787W Substitution - Missense 1:46278945-46278945 - TCGA-HU-A4GH-01 COSM4008582 c.551A>T p.N184I Substitution - Missense 1:46286306-46286306 - LUAD-NYU330 COSM373746 c.1516C>A p.R506S Substitution - Missense 1:46281365-46281365 - TCGA-AD-5900-01 COSM1343131 c.2202_2203delCT p.C735fs*61 Deletion - Frameshift 1:46279198-46279199 - TCGA-AA-3663-01 COSM1343136 c.556A>G p.R186G Substitution - Missense 1:46286301-46286301 - TCGA-D8-A1XM-01 COSM1474044 c.1285G>A p.E429K Substitution - Missense 1:46285572-46285572 - HN_62646 COSM124193 c.242A>T p.N81I Substitution - Missense 1:46298328-46298328 - C467 COSM4441882 c.311G>A p.R104H Substitution - Missense 1:46297609-46297609 - TCGA-E5-A2PC-01 COSM1296515 c.2209C>G p.L737V Substitution - Missense 1:46279192-46279192 - TCGA-18-3409-01 COSM681898 c.1643C>T p.P548L Substitution - Missense 1:46281238-46281238 - UM-SCC-2 COSM4593350 c.1310G>T p.C437F Substitution - Missense 1:46285547-46285547 - 6P2-1 COSM3734161 c.1903G>T p.V635F Substitution - Missense 1:46280414-46280414 - SH-0546 COSM5018217 c.1516C>T p.R506C Substitution - Missense 1:46281365-46281365 - T613 COSM4441882 c.311G>A p.R104H Substitution - Missense 1:46297609-46297609 - C32 COSM4619037 c.818G>A p.R273Q Substitution - Missense 1:46286039-46286039 - BICR_22 COSM4593350 c.1310G>T p.C437F Substitution - Missense 1:46285547-46285547 - 680-1992-01TD COSM145597 c.1978C>G p.Q660E Substitution - Missense 1:46280234-46280234 - TCGA-C5-A1MF-01 COSM4820686 c.1838C>T p.S613L Substitution - Missense 1:46280479-46280479 - PTC-7C COSM3746188 c.951A>C p.A317A Substitution - coding silent 1:46285906-46285906 - 11 COSM4172165 c.2143G>A p.G715R Substitution - Missense 1:46279492-46279492 - PD7215a COSM1503268 c.298C>G p.Q100E Substitution - Missense 1:46297622-46297622 - LUAD-RT-S01769 COSM392218 c.498_503delGCTCAC p.Q166_T168>H Complex - deletion inframe 1:46286354-46286359 - 1946219 COSM1578248 c.921G>A p.K307K Substitution - coding silent 1:46285936-46285936 - CSCC-10-T COSM4479578 c.233C>T p.P78L Substitution - Missense 1:46298337-46298337 - LUAD-S01482 COSM347449 c.483C>T p.S161S Substitution - coding silent 1:46286374-46286374 - TCGA-AR-A1AQ-01 COSM426382 c.1698delT p.G567fs*12 Deletion - Frameshift 1:46281183-46281183 - TCGA-A6-6141-01 COSM1343133 c.1581_1582delCA p.S528fs*1 Deletion - Frameshift 1:46281299-46281300 - TCGA-G2-A2EL-01 COSM1296514 c.2415C>T p.F805F Substitution - coding silent 1:46278889-46278889 - ESO-R61 COSM1256824 c.1249G>A p.V417I Substitution - Missense 1:46285608-46285608 - TCGA-D1-A103-01 COSM910305 c.1567C>T p.R523C Substitution - Missense 1:46281314-46281314 - TCGA-A6-5660-01 COSM1343135 c.1300_1301insG p.E434fs*70 Insertion - Frameshift 1:46285556-46285557 - TCGA-D7-8573-01 COSM4008578 c.1710G>C p.G570G Substitution - coding silent 1:46281171-46281171 - TCGA-EJ-7123-01 COSM3671782 c.1793G>T p.R598L Substitution - Missense 1:46280524-46280524 - ATL039 COSM5705470 c.400T>C p.S134P Substitution - Missense 1:46286457-46286457 - 4 COSM4333272 c.719C>G p.S240* Substitution - Nonsense 1:46286138-46286138 - pfg057T COSM4747159 c.1254delT p.F418fs*61 Deletion - Frameshift 1:46285603-46285603 - TCGA-AZ-4615-01 COSM5139607 c.2036_2038delTCT p.F679delF Deletion - In frame 1:46279597-46279599 - Gp2D COSM2191173 c.377C>T p.A126V Substitution - Missense 1:46286480-46286480 - TCGA-EE-A2MR-06 COSM2191160 c.1201C>T p.R401C Substitution - Missense 1:46285656-46285656 - TCGA-HU-A4GQ-01 COSM4008580 c.1127G>A p.R376Q Substitution - Missense 1:46285730-46285730 - STC232 COSM4613884 c.400delT p.S134fs*116 Deletion - Frameshift 1:46286457-46286457 - PTC-46C COSM3746188 c.951A>C p.A317A Substitution - coding silent 1:46285906-46285906 - 18195 COSM1296515 c.2209C>G p.L737V Substitution - Missense 1:46279192-46279192 - RKO COSM4613884 c.400delT p.S134fs*116 Deletion - Frameshift 1:46286457-46286457 - TCGA-BH-A0DZ-01 COSM426385 c.265G>A p.E89K Substitution - Missense 1:46298305-46298305 - UM-SCC-17B COSM4593350 c.1310G>T p.C437F Substitution - Missense 1:46285547-46285547 - TCGA-33-4533-01 COSM681896 c.291C>T p.L97L Substitution - coding silent 1:46297629-46297629 - TCGA-J9-A52C-01 COSM4877124 c.1378C>T p.R460C Substitution - Missense 1:46285479-46285479 - TCGA-24-1844-01 COSM1321017 c.358-2A>T p.? Unknown 1:46286501-46286501 - TCGA-14-0871-01 COSM3400843 c.2050G>C p.E684Q Substitution - Missense 1:46279585-46279585 - UM-SCC-4 COSM4593350 c.1310G>T p.C437F Substitution - Missense 1:46285547-46285547 - TCGA-AN-A03X-01 COSM426381 c.1974C>T p.D658D Substitution - coding silent 1:46280238-46280238 - TCGA-IR-A3LA-01 COSM4845910 c.1938G>C p.L646L Substitution - coding silent 1:46280274-46280274 - S00833 COSM312619 c.1591T>A p.F531I Substitution - Missense 1:46281290-46281290 - NOKSI COSM4593350 c.1310G>T p.C437F Substitution - Missense 1:46285547-46285547 - Z138 COSM426386 c.131C>G p.P44R Substitution - Missense 1:46303192-46303192 - OV207 COSM252589 c.133G>A p.A45T Substitution - Missense 1:46303190-46303190 - UM-SCC-47 COSM4593350 c.1310G>T p.C437F Substitution - Missense 1:46285547-46285547 - T3262 COSM4699090 c.2388C>T p.S796S Substitution - coding silent 1:46278916-46278916 - PTC-88C COSM3746188 c.951A>C p.A317A Substitution - coding silent 1:46285906-46285906 - 587342 COSM1213851 c.2319G>A p.W773* Substitution - Nonsense 1:46278985-46278985 - TCGA-AN-A04C-01 COSM426380 c.2288C>A p.A763D Substitution - Missense 1:46279016-46279016 - LP6007422-DNA_A01 COSM4409901 c.815G>A p.G272D Substitution - Missense 1:46286042-46286042 - HCC58 COSM1602493 c.875A>G p.D292G Substitution - Missense 1:46285982-46285982 - PTC-53C COSM3746188 c.951A>C p.A317A Substitution - coding silent 1:46285906-46285906 - TCGA-EB-A5SE-01 COSM3490295 c.1614G>A p.E538E Substitution - coding silent 1:46281267-46281267 - T3080 COSM4699093 c.1562G>A p.R521H Substitution - Missense 1:46281319-46281319 - 8059255 COSM3771763 c.1823C>T p.S608F Substitution - Missense 1:46280494-46280494 - NPC6F COSM4995459 c.1928A>G p.N643S Substitution - Missense 1:46280284-46280284 - RK120_C01 COSM3700746 c.1137T>C p.A379A Substitution - coding silent 1:46285720-46285720 - RK135_C01 COSM3741297 c.1337G>T p.S446I Substitution - Missense 1:46285520-46285520 - CSCC-27-T COSM4564452 c.11_12CC>TT p.P4L Substitution - Missense 1:46303311-46303312 - TCGA-BQ-5885-01 COSM3985113 c.639A>C p.S213S Substitution - coding silent 1:46286218-46286218 - TCGA-AP-A051-01 COSM910308 c.522G>T p.Q174H Substitution - Missense 1:46286335-46286335 - CSCC-27-T COSM4531487 c.1793G>A p.R598Q Substitution - Missense 1:46280524-46280524 - AOCS-134-3-9 COSM3944145 c.2317T>A p.W773R Substitution - Missense 1:46278987-46278987 - TCGA-A2-A3XV-01 COSM3805440 c.1487C>T p.S496F Substitution - Missense 1:46285370-46285370 - 8031680 COSM218461 c.217C>T p.L73F Substitution - Missense 1:46298353-46298353 - XHDG40 COSM4770040 c.1199C>A p.A400D Substitution - Missense 1:46285658-46285658 - 15T COSM3718796 c.1665_1674del10 p.R556fs*20 Deletion - Frameshift 1:46281207-46281216 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.144941 1p34.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.C123G c.367T>G 1 46752162 ESCA A - Frameshift p.G567Vfs*12 c.1698delT 1 46746855 BRCA A - Frameshift p.S134Pfs*116 c.400delT 1 46752129 CM A G 3-UTRSNV . c.2436+62T>C 1 46744478 UCEC A T Missense p.F531I c.1591T>A 1 46746962 SCLC C G Missense p.E684Q c.2050G>C 1 46745257 GBM C G Missense p.E693Q c.2077G>C 1 46745230 LUAD C G Missense p.R104P c.311G>C 1 46763281 LUSC C G Synonymous p.L110L c.330G>C 1 46763262 BRCA C G Synonymous p.V208V c.624G>C 1 46751905 MM C T IntronicSNV . c.200-258G>A 1 46764300 DLBCL C T Missense p.D631N c.1891G>A 1 46746098 BLCA C T Missense p.E178K c.532G>A 1 46751997 OV C T Missense p.E429K c.1285G>A 1 46751244 BRCA C T Missense p.E728K c.2182G>A 1 46744891 BLCA C T Missense p.V417I c.1249G>A 1 46751280 ESCA C T Nonsense p.W103* c.309G>A 1 46763283 BLCA C T Synonymous p.E662E c.1986G>A 1 46745898 CM C T Synonymous p.E684E c.2052G>A 1 46745255 HNSC C T Synonymous p.L610L c.1830G>A 1 46746159 LUAD C T Synonymous p.Q668Q c.2004G>A 1 46745880 HNSC G A 3-UTRSNV . c.2436+71C>T 1 46744469 UCEC G A Missense p.H766Y c.2296C>T 1 46744680 OV G A Missense p.L73F c.217C>T 1 46764025 PAAD G A Missense p.P406S c.1216C>T 1 46751313 CM G A Missense p.R324C c.970C>T 1 46751559 UCEC G A Missense p.R52W c.154C>T 1 46768841 UCEC G A Missense p.S194F c.581C>T 1 46751948 COREAD G A Synonymous p.A382A c.1146C>T 1 46751383 CM G A Synonymous p.D658D c.1974C>T 1 46745910 BRCA G A Synonymous p.F805F c.2415C>T 1 46744561 BLCA G A Synonymous p.L616L c.1846C>T 1 46746143 UCEC G A Synonymous p.L97L c.291C>T 1 46763301 LUSC G C Missense p.I169M c.507C>G 1 46752022 BRCA G C Missense p.L737V c.2209C>G 1 46744864 BLCA G C Missense p.Q211E c.631C>G 1 46751898 BLCA G C Missense p.Q660E c.1978C>G 1 46745906 CLL G C Synonymous p.L198L c.594C>G 1 46751935 BLCA G - Frameshift p.P471Hfs*8 c.1412delC 1 46751117 PRAD G T Missense p.A763D c.2288C>A 1 46744688 BRCA G T Missense p.F651L c.1953C>A 1 46745931 UCEC G T Missense p.P560Q c.1679C>A 1 46746874 LUAD G T Missense p.T402N c.1205C>A 1 46751324 CLL T A Missense p.I82L c.244A>T 1 46763998 HNSC T A Missense p.N81I c.242A>T 1 46764000 HNSC T C IntronicSNV . c.357+514A>G 1 46762721 HC T C Missense p.H766R c.2297A>G 1 46744679 RCCC T C Synonymous p.E434E c.1302A>G 1 46751227 HNSC T C Synonymous p.P471P c.1413A>G 1 46751116 STAD