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 8 59571856 59571856 + Intron SNP A A C TCGA-OR-A5JW-01A-11D-A29I-10 TCGA-OR-A5JW-10A-01D-A29L-10 g.chr8:59571856A>C ACC 8 59571856 59571856 + Intron SNP A A C TCGA-OR-A5KU-01A-11D-A29I-10 TCGA-OR-A5KU-10A-01D-A29L-10 g.chr8:59571856A>C BLCA 8 59502625 59502625 + Silent SNP C C T TCGA-4Z-AA7M-01A-11D-A391-08 TCGA-4Z-AA7M-10A-01D-A394-08 g.chr8:59502625C>T c.2028G>A c.(2026-2028)tcG>tcA p.S676S BLCA 8 59503463 59503463 + Missense_Mutation SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 g.chr8:59503463G>A c.1982C>T c.(1981-1983)tCa>tTa p.S661L BLCA 8 59506850 59506850 + Splice_Site SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 g.chr8:59506850C>G c.e23-1 BLCA 8 59508201 59508201 + Missense_Mutation SNP C C T TCGA-FD-A43P-01A-31D-A23U-08 TCGA-FD-A43P-10A-01D-A23U-08 g.chr8:59508201C>T c.1810G>A c.(1810-1812)Gac>Aac p.D604N BLCA 8 59511909 59511909 + Silent SNP A A G TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr8:59511909A>G c.1467T>C c.(1465-1467)ttT>ttC p.F489F BLCA 8 59514019 59514019 + Missense_Mutation SNP A A G TCGA-FD-A6TG-01A-11D-A32B-08 TCGA-FD-A6TG-10A-01D-A329-08 g.chr8:59514019A>G c.1201T>C c.(1201-1203)Tat>Cat p.Y401H BLCA 8 59514698 59514698 + Splice_Site SNP T T C TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr8:59514698T>C c.e14-2 BLCA 8 59515824 59515824 + Silent SNP G G C TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 g.chr8:59515824G>C c.990C>G c.(988-990)ctC>ctG p.L330L BLCA 8 59515917 59515917 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 g.chr8:59515917C>G c.897G>C c.(895-897)gaG>gaC p.E299D BLCA 8 59522163 59522163 + Splice_Site SNP C C T TCGA-FD-A43P-01A-31D-A23U-08 TCGA-FD-A43P-10A-01D-A23U-08 g.chr8:59522163C>T c.687G>A c.(685-687)ccG>ccA p.P229P BLCA 8 59522183 59522183 + Missense_Mutation SNP G G C TCGA-2F-A9KT-01A-11D-A38G-08 TCGA-2F-A9KT-10A-01D-A38J-08 g.chr8:59522183G>C c.667C>G c.(667-669)Cag>Gag p.Q223E BLCA 8 59522183 59522183 + Nonsense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 g.chr8:59522183G>A c.667C>T c.(667-669)Cag>Tag p.Q223* BLCA 8 59535800 59535800 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr8:59535800C>T c.536G>A c.(535-537)aGa>aAa p.R179K BLCA 8 59548076 59548076 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 g.chr8:59548076G>A c.179C>T c.(178-180)tCa>tTa p.S60L BLCA 8 59555592 59555592 + Nonsense_Mutation SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr8:59555592C>A c.100G>T c.(100-102)Gaa>Taa p.E34* BRCA 8 59498560 59498560 + Splice_Site SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 g.chr8:59498560C>G c.e29-1 BRCA 8 59500239 59500239 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr8:59500239C>G c.2233G>C c.(2233-2235)Gag>Cag p.E745Q BRCA 8 59502584 59502584 + Missense_Mutation SNP G G T TCGA-A8-A076-01A-21W-A019-09 TCGA-A8-A076-10A-01W-A021-09 g.chr8:59502584G>T c.2069C>A c.(2068-2070)tCt>tAt p.S690Y CESC 8 59511903 59511903 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 g.chr8:59511903C>A c.1473G>T c.(1471-1473)caG>caT p.Q491H CESC 8 59518528 59518528 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 g.chr8:59518528G>C c.826C>G c.(826-828)Caa>Gaa p.Q276E CESC 8 59520362 59520362 + Missense_Mutation SNP C C T TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 g.chr8:59520362C>T c.725G>A c.(724-726)cGc>cAc p.R242H CESC 8 59547876 59547876 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 g.chr8:59547876C>G c.284G>C c.(283-285)aGa>aCa p.R95T COAD 8 59498272 59498272 + Silent SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr8:59498272A>G c.2598T>C c.(2596-2598)ggT>ggC p.G866G COAD 8 59498553 59498553 + Missense_Mutation SNP C C T TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr8:59498553C>T c.2453G>A c.(2452-2454)cGc>cAc p.R818H COAD 8 59500221 59500221 + Frame_Shift_Del DEL T T - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr8:59500221delT c.2251delA c.(2251-2253)agafs p.R751fs COAD 8 59508169 59508169 + Nonsense_Mutation SNP C C T TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr8:59508169C>T c.1842G>A c.(1840-1842)tgG>tgA p.W614* COAD 8 59508178 59508178 + Silent SNP T T C TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chr8:59508178T>C c.1833A>G c.(1831-1833)acA>acG p.T611T COAD 8 59508178 59508178 + Silent SNP T T C TCGA-CA-5254-01A-21D-1835-10 TCGA-CA-5254-10A-01D-1835-10 g.chr8:59508178T>C c.1833A>G c.(1831-1833)acA>acG p.T611T COAD 8 59508178 59508178 + Silent SNP T T C TCGA-CK-6748-01A-11D-1835-10 TCGA-CK-6748-10A-01D-1835-10 g.chr8:59508178T>C c.1833A>G c.(1831-1833)acA>acG p.T611T COAD 8 59508180 59508180 + Missense_Mutation SNP T T C TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr8:59508180T>C c.1831A>G c.(1831-1833)Aca>Gca p.T611A COAD 8 59508180 59508180 + Missense_Mutation SNP T T C TCGA-CA-5797-01A-01D-1650-10 TCGA-CA-5797-10A-01D-1650-10 g.chr8:59508180T>C c.1831A>G c.(1831-1833)Aca>Gca p.T611A COAD 8 59510074 59510074 + Missense_Mutation SNP G G C TCGA-D5-6932-01A-11D-1924-10 TCGA-D5-6932-10A-01D-1924-10 g.chr8:59510074G>C c.1664C>G c.(1663-1665)aCg>aGg p.T555R COAD 8 59512379 59512379 + Silent SNP C C T TCGA-DM-A28H-01A-11D-A16V-10 TCGA-DM-A28H-10A-01D-A16V-10 g.chr8:59512379C>T c.1383G>A c.(1381-1383)ctG>ctA p.L461L COAD 8 59513893 59513893 + Silent SNP G G A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr8:59513893G>A c.1231C>T c.(1231-1233)Ctg>Ttg p.L411L COAD 8 59522180 59522180 + Missense_Mutation SNP G G T TCGA-D5-6537-01A-11D-1719-10 TCGA-D5-6537-10A-01D-1719-10 g.chr8:59522180G>T c.670C>A c.(670-672)Ccc>Acc p.P224T COAD 8 59535941 59535941 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr8:59535941C>T c.499G>A c.(499-501)Gcc>Acc p.A167T COAD 8 59535942 59535942 + Silent SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr8:59535942G>A c.498C>T c.(496-498)acC>acT p.T166T COAD 8 59547771 59547771 + Missense_Mutation SNP C C A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr8:59547771C>A c.310G>T c.(310-312)Ggt>Tgt p.G104C COAD 8 59547899 59547899 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr8:59547899C>T c.261G>A c.(259-261)aaG>aaA p.K87K COADREAD 8 59498272 59498272 + Silent SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr8:59498272A>G c.2598T>C c.(2596-2598)ggT>ggC p.G866G COADREAD 8 59498553 59498553 + Missense_Mutation SNP C C T TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr8:59498553C>T c.2453G>A c.(2452-2454)cGc>cAc p.R818H COADREAD 8 59500199 59500199 + Missense_Mutation SNP G G A TCGA-DC-6682-01A-11D-1826-10 TCGA-DC-6682-10A-01D-1826-10 g.chr8:59500199G>A c.2273C>T c.(2272-2274)gCc>gTc p.A758V COADREAD 8 59500221 59500221 + Frame_Shift_Del DEL T T - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr8:59500221delT c.2251delA c.(2251-2253)agafs p.R751fs COADREAD 8 59508169 59508169 + Nonsense_Mutation SNP C C T TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr8:59508169C>T c.1842G>A c.(1840-1842)tgG>tgA p.W614* COADREAD 8 59508178 59508178 + Silent SNP T T C TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chr8:59508178T>C c.1833A>G c.(1831-1833)acA>acG p.T611T COADREAD 8 59508178 59508178 + Silent SNP T T C TCGA-CA-5254-01A-21D-1835-10 TCGA-CA-5254-10A-01D-1835-10 g.chr8:59508178T>C c.1833A>G c.(1831-1833)acA>acG p.T611T COADREAD 8 59508178 59508178 + Silent SNP T T C TCGA-CK-6748-01A-11D-1835-10 TCGA-CK-6748-10A-01D-1835-10 g.chr8:59508178T>C c.1833A>G c.(1831-1833)acA>acG p.T611T COADREAD 8 59508180 59508180 + Missense_Mutation SNP T T C TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr8:59508180T>C c.1831A>G c.(1831-1833)Aca>Gca p.T611A COADREAD 8 59508180 59508180 + Missense_Mutation SNP T T C TCGA-CA-5797-01A-01D-1650-10 TCGA-CA-5797-10A-01D-1650-10 g.chr8:59508180T>C c.1831A>G c.(1831-1833)Aca>Gca p.T611A COADREAD 8 59510074 59510074 + Missense_Mutation SNP G G C TCGA-D5-6932-01A-11D-1924-10 TCGA-D5-6932-10A-01D-1924-10 g.chr8:59510074G>C c.1664C>G c.(1663-1665)aCg>aGg p.T555R COADREAD 8 59512379 59512379 + Silent SNP C C T TCGA-DM-A28H-01A-11D-A16V-10 TCGA-DM-A28H-10A-01D-A16V-10 g.chr8:59512379C>T c.1383G>A c.(1381-1383)ctG>ctA p.L461L COADREAD 8 59513893 59513893 + Silent SNP G G A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr8:59513893G>A c.1231C>T c.(1231-1233)Ctg>Ttg p.L411L COADREAD 8 59514652 59514652 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:59514652C>T c.1090G>A c.(1090-1092)Ggg>Agg p.G364R COADREAD 8 59518550 59518550 + Silent SNP G G T TCGA-AG-3896-01A-01W-1073-09 TCGA-AG-3896-10A-01W-1073-09 g.chr8:59518550G>T c.804C>A c.(802-804)atC>atA p.I268I COADREAD 8 59522172 59522172 + Silent SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr8:59522172G>A c.678C>T c.(676-678)aaC>aaT p.N226N COADREAD 8 59522180 59522180 + Missense_Mutation SNP G G T TCGA-D5-6537-01A-11D-1719-10 TCGA-D5-6537-10A-01D-1719-10 g.chr8:59522180G>T c.670C>A c.(670-672)Ccc>Acc p.P224T COADREAD 8 59535796 59535796 + Silent SNP T T C TCGA-AG-A014-01A-02W-A00K-09 TCGA-AG-A014-10A-01W-A00K-09 g.chr8:59535796T>C c.540A>G c.(538-540)acA>acG p.T180T COADREAD 8 59535941 59535941 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr8:59535941C>T c.499G>A c.(499-501)Gcc>Acc p.A167T COADREAD 8 59535942 59535942 + Silent SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr8:59535942G>A c.498C>T c.(496-498)acC>acT p.T166T COADREAD 8 59547771 59547771 + Missense_Mutation SNP C C A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr8:59547771C>A c.310G>T c.(310-312)Ggt>Tgt p.G104C COADREAD 8 59547899 59547899 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr8:59547899C>T c.261G>A c.(259-261)aaG>aaA p.K87K COADREAD 8 59547919 59547919 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:59547919C>A c.241G>T c.(241-243)Gac>Tac p.D81Y DLBC 8 59508166 59508166 + Silent SNP A A G TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr8:59508166A>G c.1845T>C c.(1843-1845)aaT>aaC p.N615N ESCA 8 59506838 59506838 + Missense_Mutation SNP C C A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 g.chr8:59506838C>A c.1904G>T c.(1903-1905)gGa>gTa p.G635V ESCA 8 59510074 59510074 + Missense_Mutation SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 g.chr8:59510074G>A c.1664C>T c.(1663-1665)aCg>aTg p.T555M ESCA 8 59511868 59511868 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr8:59511868G>T c.1508C>A c.(1507-1509)tCt>tAt p.S503Y ESCA 8 59515783 59515783 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 g.chr8:59515783G>A c.1031C>T c.(1030-1032)tCc>tTc p.S344F GBM 8 59512581 59512581 + Splice_Site SNP C C T TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 g.chr8:59512581C>T c.e17-1 GBM 8 59548070 59548070 + Missense_Mutation SNP G G A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 g.chr8:59548070G>A c.185C>T c.(184-186)tCg>tTg p.S62L GBMLGG 8 59498525 59498525 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:59498525G>A c.2481C>T c.(2479-2481)ggC>ggT p.G827G GBMLGG 8 59498535 59498535 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:59498535C>A c.2471G>T c.(2470-2472)gGa>gTa p.G824V GBMLGG 8 59512581 59512581 + Splice_Site SNP C C T TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 g.chr8:59512581C>T c.e17-1 GBMLGG 8 59548070 59548070 + Missense_Mutation SNP G G A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 g.chr8:59548070G>A c.185C>T c.(184-186)tCg>tTg p.S62L HNSC 8 59511881 59511881 + Missense_Mutation SNP T T C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 g.chr8:59511881T>C c.1495A>G c.(1495-1497)Agc>Ggc p.S499G HNSC 8 59512352 59512352 + Silent SNP T T C TCGA-F7-A623-01A-11D-A28R-08 TCGA-F7-A623-10A-01D-A28U-08 g.chr8:59512352T>C c.1410A>G c.(1408-1410)ggA>ggG p.G470G HNSC 8 59514633 59514633 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 g.chr8:59514633C>A c.1109G>T c.(1108-1110)cGg>cTg p.R370L HNSC 8 59514673 59514673 + Missense_Mutation SNP G G A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 g.chr8:59514673G>A c.1069C>T c.(1069-1071)Cgg>Tgg p.R357W HNSC 8 59518528 59518528 + Missense_Mutation SNP G G C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 g.chr8:59518528G>C c.826C>G c.(826-828)Caa>Gaa p.Q276E HNSC 8 59520336 59520336 + Missense_Mutation SNP T T C TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 g.chr8:59520336T>C c.751A>G c.(751-753)Atg>Gtg p.M251V HNSC 8 59522253 59522253 + Silent SNP T T C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 g.chr8:59522253T>C c.597A>G c.(595-597)aaA>aaG p.K199K HNSC 8 59548030 59548030 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 g.chr8:59548030G>C c.225C>G c.(223-225)atC>atG p.I75M KICH 8 59499082 59499082 + Missense_Mutation SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr8:59499082G>A c.2381C>T c.(2380-2382)aCg>aTg p.T794M KICH 8 59512397 59512397 + Missense_Mutation SNP G G T TCGA-KN-8430-01A-11D-2310-10 TCGA-KN-8430-11A-01D-2311-10 g.chr8:59512397G>T c.1365C>A c.(1363-1365)agC>agA p.S455R KIPAN 8 59499082 59499082 + Missense_Mutation SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr8:59499082G>A c.2381C>T c.(2380-2382)aCg>aTg p.T794M KIPAN 8 59506790 59506790 + Splice_Site SNP C C G TCGA-B0-5713-01A-11D-1669-08 TCGA-B0-5713-11A-01D-1669-08 g.chr8:59506790C>G c.e23+1 KIPAN 8 59510054 59510055 + Frame_Shift_Ins INS - - C TCGA-GL-A9DC-01A-11D-A36X-10 TCGA-GL-A9DC-10A-01D-A370-10 g.chr8:59510054_59510055insC c.1683_1684insG c.(1681-1686)gggcagfs p.Q562fs KIPAN 8 59512397 59512397 + Missense_Mutation SNP G G T TCGA-KN-8430-01A-11D-2310-10 TCGA-KN-8430-11A-01D-2311-10 g.chr8:59512397G>T c.1365C>A c.(1363-1365)agC>agA p.S455R KIPAN 8 59514096 59514096 + Splice_Site SNP T T C TCGA-B8-5164-01A-01D-1421-08 TCGA-B8-5164-10A-01D-1421-08 g.chr8:59514096T>C c.e15-2 KIRC 8 59506790 59506790 + Splice_Site SNP C C G TCGA-B0-5713-01A-11D-1669-08 TCGA-B0-5713-11A-01D-1669-08 g.chr8:59506790C>G c.e23+1 KIRC 8 59514096 59514096 + Splice_Site SNP T T C TCGA-B8-5164-01A-01D-1421-08 TCGA-B8-5164-10A-01D-1421-08 g.chr8:59514096T>C c.e15-2 KIRP 8 59510054 59510055 + Frame_Shift_Ins INS - - C TCGA-GL-A9DC-01A-11D-A36X-10 TCGA-GL-A9DC-10A-01D-A370-10 g.chr8:59510054_59510055insC c.1683_1684insG c.(1681-1686)gggcagfs p.Q562fs LGG 8 59498525 59498525 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:59498525G>A c.2481C>T c.(2479-2481)ggC>ggT p.G827G LGG 8 59498535 59498535 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:59498535C>A c.2471G>T c.(2470-2472)gGa>gTa p.G824V LIHC 8 59498516 59498516 + Silent SNP A A G TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr8:59498516A>G c.2490T>C c.(2488-2490)aaT>aaC p.N830N LIHC 8 59511898 59511898 + Missense_Mutation SNP C C T TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr8:59511898C>T c.1478G>A c.(1477-1479)aGc>aAc p.S493N LIHC 8 59514660 59514660 + Missense_Mutation SNP T T C TCGA-BC-A3KG-01A-11D-A20W-10 TCGA-BC-A3KG-10A-01D-A20W-10 g.chr8:59514660T>C c.1082A>G c.(1081-1083)aAg>aGg p.K361R LIHC 8 59520364 59520364 + Silent SNP G G T TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr8:59520364G>T c.723C>A c.(721-723)cgC>cgA p.R241R LIHC 8 59522272 59522272 + Missense_Mutation SNP T T C TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr8:59522272T>C c.578A>G c.(577-579)aAg>aGg p.K193R LIHC 8 59536325 59536325 + Silent SNP A A G TCGA-MI-A75E-01A-11D-A32G-10 TCGA-MI-A75E-10A-01D-A32G-10 g.chr8:59536325A>G c.399T>C c.(397-399)taT>taC p.Y133Y LUAD 8 59500261 59500261 + Splice_Site SNP C C A TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr8:59500261C>A c.e27-1 LUAD 8 59502047 59502047 + Silent SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 g.chr8:59502047G>A c.2175C>T c.(2173-2175)aaC>aaT p.N725N LUAD 8 59508123 59508123 + Missense_Mutation SNP T T C TCGA-97-7546-01A-11D-2036-08 TCGA-97-7546-10A-01D-2036-08 g.chr8:59508123T>C c.1888A>G c.(1888-1890)Aaa>Gaa p.K630E LUAD 8 59510429 59510429 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr8:59510429C>T c.1618G>A c.(1618-1620)Gac>Aac p.D540N LUAD 8 59511849 59511849 + Missense_Mutation SNP C C G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 g.chr8:59511849C>G c.1527G>C c.(1525-1527)tgG>tgC p.W509C LUAD 8 59511904 59511904 + Missense_Mutation SNP T T C TCGA-97-A4M0-01A-11D-A24P-08 TCGA-97-A4M0-10A-01D-A24P-08 g.chr8:59511904T>C c.1472A>G c.(1471-1473)cAg>cGg p.Q491R LUAD 8 59512531 59512531 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 g.chr8:59512531C>T c.1330G>A c.(1330-1332)Gag>Aag p.E444K LUAD 8 59512551 59512551 + Missense_Mutation SNP T T A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 g.chr8:59512551T>A c.1310A>T c.(1309-1311)gAt>gTt p.D437V LUAD 8 59515859 59515859 + Missense_Mutation SNP G G T TCGA-MP-A4TF-01A-11D-A25L-08 TCGA-MP-A4TF-10A-01D-A25L-08 g.chr8:59515859G>T c.955C>A c.(955-957)Ctc>Atc p.L319I LUAD 8 59515900 59515900 + Missense_Mutation SNP C C A TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr8:59515900C>A c.914G>T c.(913-915)tGg>tTg p.W305L LUAD 8 59515919 59515919 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr8:59515919C>T c.895G>A c.(895-897)Gag>Aag p.E299K LUAD 8 59518564 59518564 + Silent SNP G G A TCGA-55-8092-01A-11D-2238-08 TCGA-55-8092-10A-01D-2238-08 g.chr8:59518564G>A c.790C>T c.(790-792)Ctg>Ttg p.L264L LUAD 8 59520391 59520391 + Silent SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 g.chr8:59520391C>A c.696G>T c.(694-696)gtG>gtT p.V232V LUSC 8 59502566 59502566 + Splice_Site SNP A A G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 g.chr8:59502566A>G c.2087T>C c.(2086-2088)gTc>gCc p.V696A LUSC 8 59506795 59506795 + Silent SNP G G A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 g.chr8:59506795G>A c.1947C>T c.(1945-1947)tcC>tcT p.S649S LUSC 8 59510037 59510037 + Silent SNP T T C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chr8:59510037T>C c.1701A>G c.(1699-1701)ctA>ctG p.L567L LUSC 8 59510091 59510091 + Silent SNP C C T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 g.chr8:59510091C>T c.1647G>A c.(1645-1647)gaG>gaA p.E549E LUSC 8 59514042 59514042 + Missense_Mutation SNP G G C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 g.chr8:59514042G>C c.1178C>G c.(1177-1179)tCt>tGt p.S393C LUSC 8 59514692 59514692 + Missense_Mutation SNP C C A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 g.chr8:59514692C>A c.1050G>T c.(1048-1050)ttG>ttT p.L350F LUSC 8 59515778 59515778 + Missense_Mutation SNP A A G TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 g.chr8:59515778A>G c.1036T>C c.(1036-1038)Tca>Cca p.S346P OV 8 59508179 59508179 + Missense_Mutation SNP G G A TCGA-36-1574-01A-01W-0615-10 TCGA-36-1574-10A-01W-0615-10 g.chr8:59508179G>A c.1832C>T c.(1831-1833)aCa>aTa p.T611I PAAD 8 59512420 59512420 + Nonsense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr8:59512420C>A c.1342G>T c.(1342-1344)Gaa>Taa p.E448* PRAD 8 59508192 59508192 + Missense_Mutation SNP C C T TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 g.chr8:59508192C>T c.1819G>A c.(1819-1821)Gaa>Aaa p.E607K PRAD 8 59511849 59511849 + Missense_Mutation SNP C C G TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 g.chr8:59511849C>G c.1527G>C c.(1525-1527)tgG>tgC p.W509C PRAD 8 59515931 59515931 + Missense_Mutation SNP C C T TCGA-EJ-5512-01A-01D-1576-08 TCGA-EJ-5512-10A-01D-1577-08 g.chr8:59515931C>T c.883G>A c.(883-885)Gag>Aag p.E295K PRAD 8 59544078 59544078 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr8:59544078C>T c.361G>A c.(361-363)Gtt>Att p.V121I READ 8 59500199 59500199 + Missense_Mutation SNP G G A TCGA-DC-6682-01A-11D-1826-10 TCGA-DC-6682-10A-01D-1826-10 g.chr8:59500199G>A c.2273C>T c.(2272-2274)gCc>gTc p.A758V READ 8 59514652 59514652 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:59514652C>T c.1090G>A c.(1090-1092)Ggg>Agg p.G364R READ 8 59518550 59518550 + Silent SNP G G T TCGA-AG-3896-01A-01W-1073-09 TCGA-AG-3896-10A-01W-1073-09 g.chr8:59518550G>T c.804C>A c.(802-804)atC>atA p.I268I READ 8 59522172 59522172 + Silent SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr8:59522172G>A c.678C>T c.(676-678)aaC>aaT p.N226N READ 8 59535796 59535796 + Silent SNP T T C TCGA-AG-A014-01A-02W-A00K-09 TCGA-AG-A014-10A-01W-A00K-09 g.chr8:59535796T>C c.540A>G c.(538-540)acA>acG p.T180T READ 8 59547919 59547919 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:59547919C>A c.241G>T c.(241-243)Gac>Tac p.D81Y SARC 8 59499075 59499075 + Silent SNP G G A TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 g.chr8:59499075G>A c.2388C>T c.(2386-2388)acC>acT p.T796T SARC 8 59548025 59548025 + Splice_Site SNP A A G TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 g.chr8:59548025A>G c.e3+1 SKCM 8 59499059 59499059 + Missense_Mutation SNP G G A TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr8:59499059G>A c.2404C>T c.(2404-2406)Cca>Tca p.P802S SKCM 8 59508133 59508133 + Silent SNP A A G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr8:59508133A>G c.1878T>C c.(1876-1878)taT>taC p.Y626Y SKCM 8 59509987 59509987 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr8:59509987G>A c.1751C>T c.(1750-1752)tCc>tTc p.S584F SKCM 8 59511825 59511825 + Silent SNP T T C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr8:59511825T>C c.1551A>G c.(1549-1551)aaA>aaG p.K517K SKCM 8 59512321 59512321 + Missense_Mutation SNP G G A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 g.chr8:59512321G>A c.1441C>T c.(1441-1443)Cct>Tct p.P481S SKCM 8 59512394 59512394 + Missense_Mutation SNP A A C TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 g.chr8:59512394A>C c.1368T>G c.(1366-1368)ttT>ttG p.F456L SKCM 8 59515881 59515881 + Silent SNP G G A TCGA-EE-A3AD-06A-11D-A196-08 TCGA-EE-A3AD-10A-01D-A198-08 g.chr8:59515881G>A c.933C>T c.(931-933)tcC>tcT p.S311S SKCM 8 59515917 59515917 + Silent SNP C C T TCGA-EE-A3AD-06A-11D-A196-08 TCGA-EE-A3AD-10A-01D-A198-08 g.chr8:59515917C>T c.897G>A c.(895-897)gaG>gaA p.E299E SKCM 8 59536305 59536305 + Missense_Mutation SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr8:59536305G>A c.419C>T c.(418-420)cCc>cTc p.P140L SKCM 8 59547754 59547754 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 g.chr8:59547754G>A c.327C>T c.(325-327)ttC>ttT p.F109F SKCM 8 59548091 59548091 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr8:59548091G>A c.164C>T c.(163-165)tCc>tTc p.S55F

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 8 59496716 59496716 single base substitution G C downstream_gene_variant BLCA-CN 8 59496716 59496716 single base substitution G C exon_variant BLCA-CN 8 59496716 59496716 single base substitution G C missense_variant I901M 2703C>G BLCA-CN 8 59496716 59496716 single base substitution G C missense_variant I932M 2796C>G BLCA-CN 8 59515824 59515824 single base substitution G C exon_variant BLCA-CN 8 59515824 59515824 single base substitution G C synonymous_variant L330L 990C>G BLCA-CN 8 59515824 59515824 single base substitution G C synonymous_variant L361L 1083C>G BLCA-CN 8 59515824 59515824 single base substitution G C upstream_gene_variant BLCA-US 8 59494245 59494245 single base substitution G C downstream_gene_variant BLCA-US 8 59503463 59503463 single base substitution G A exon_variant BLCA-US 8 59503463 59503463 single base substitution G A missense_variant S661L 1982C>T BLCA-US 8 59503463 59503463 single base substitution G A missense_variant S692L 2075C>T BLCA-US 8 59503463 59503463 single base substitution G A upstream_gene_variant BLCA-US 8 59506850 59506850 single base substitution C G downstream_gene_variant BLCA-US 8 59506850 59506850 single base substitution C G exon_variant BLCA-US 8 59506850 59506850 single base substitution C G splice_acceptor_variant BLCA-US 8 59506850 59506850 single base substitution C G upstream_gene_variant BLCA-US 8 59522183 59522183 single base substitution G A exon_variant BLCA-US 8 59522183 59522183 single base substitution G A stop_gained Q223* 667C>T BLCA-US 8 59522183 59522183 single base substitution G A stop_gained Q254* 760C>T BLCA-US 8 59555592 59555592 single base substitution C A exon_variant BLCA-US 8 59555592 59555592 single base substitution C A stop_gained E34* 100G>T BLCA-US 8 59555592 59555592 single base substitution C A stop_gained E65* 193G>T BOCA-FR 8 59570951 59570951 single base substitution G A intron_variant BRCA-EU 8 59491659 59491659 single base substitution A C downstream_gene_variant BRCA-EU 8 59492220 59492220 single base substitution C G downstream_gene_variant BRCA-EU 8 59492804 59492804 deletion of <=200bp A - downstream_gene_variant BRCA-EU 8 59493346 59493346 single base substitution C T downstream_gene_variant BRCA-EU 8 59493720 59493720 single base substitution T A downstream_gene_variant BRCA-EU 8 59495444 59495444 single base substitution A C downstream_gene_variant BRCA-EU 8 59495930 59495930 single base substitution C G downstream_gene_variant BRCA-EU 8 59497023 59497023 single base substitution C A downstream_gene_variant BRCA-EU 8 59497023 59497023 single base substitution C A intron_variant BRCA-EU 8 59498151 59498151 single base substitution G T downstream_gene_variant BRCA-EU 8 59498151 59498151 single base substitution G T intron_variant BRCA-EU 8 59498174 59498174 single base substitution G C downstream_gene_variant BRCA-EU 8 59498174 59498174 single base substitution G C intron_variant BRCA-EU 8 59498654 59498654 single base substitution C G downstream_gene_variant BRCA-EU 8 59498654 59498654 single base substitution C G intron_variant BRCA-EU 8 59499203 59499203 single base substitution G C downstream_gene_variant BRCA-EU 8 59499203 59499203 single base substitution G C intron_variant BRCA-EU 8 59499203 59499203 single base substitution G C upstream_gene_variant BRCA-EU 8 59499334 59499334 single base substitution A G downstream_gene_variant BRCA-EU 8 59499334 59499334 single base substitution A G intron_variant BRCA-EU 8 59499334 59499334 single base substitution A G upstream_gene_variant BRCA-EU 8 59499335 59499335 single base substitution C A downstream_gene_variant BRCA-EU 8 59499335 59499335 single base substitution C A intron_variant BRCA-EU 8 59499335 59499335 single base substitution C A upstream_gene_variant BRCA-EU 8 59501256 59501256 single base substitution C T downstream_gene_variant BRCA-EU 8 59501256 59501256 single base substitution C T intron_variant BRCA-EU 8 59501256 59501256 single base substitution C T upstream_gene_variant BRCA-EU 8 59501339 59501339 single base substitution C T downstream_gene_variant BRCA-EU 8 59501339 59501339 single base substitution C T intron_variant BRCA-EU 8 59501339 59501339 single base substitution C T upstream_gene_variant BRCA-EU 8 59501613 59501613 deletion of <=200bp T - downstream_gene_variant BRCA-EU 8 59501613 59501613 deletion of <=200bp T - intron_variant BRCA-EU 8 59501613 59501613 deletion of <=200bp T - upstream_gene_variant BRCA-EU 8 59502448 59502448 single base substitution C A downstream_gene_variant BRCA-EU 8 59502448 59502448 single base substitution C A exon_variant BRCA-EU 8 59502448 59502448 single base substitution C A intron_variant BRCA-EU 8 59502448 59502448 single base substitution C A upstream_gene_variant BRCA-EU 8 59502664 59502664 single base substitution C G downstream_gene_variant BRCA-EU 8 59502664 59502664 single base substitution C G intron_variant BRCA-EU 8 59502664 59502664 single base substitution C G upstream_gene_variant BRCA-EU 8 59503148 59503148 single base substitution T C downstream_gene_variant BRCA-EU 8 59503148 59503148 single base substitution T C intron_variant BRCA-EU 8 59503148 59503148 single base substitution T C upstream_gene_variant BRCA-EU 8 59503390 59503390 single base substitution C A downstream_gene_variant BRCA-EU 8 59503390 59503390 single base substitution C A intron_variant BRCA-EU 8 59503390 59503390 single base substitution C A upstream_gene_variant BRCA-EU 8 59503664 59503664 single base substitution C G intron_variant BRCA-EU 8 59503664 59503664 single base substitution C G upstream_gene_variant BRCA-EU 8 59504279 59504279 single base substitution C G intron_variant BRCA-EU 8 59504279 59504279 single base substitution C G upstream_gene_variant BRCA-EU 8 59504900 59504900 deletion of <=200bp A - intron_variant BRCA-EU 8 59504900 59504900 deletion of <=200bp A - upstream_gene_variant BRCA-EU 8 59504992 59504992 single base substitution G C downstream_gene_variant BRCA-EU 8 59504992 59504992 single base substitution G C intron_variant BRCA-EU 8 59504992 59504992 single base substitution G C upstream_gene_variant BRCA-EU 8 59505242 59505242 single base substitution T A downstream_gene_variant BRCA-EU 8 59505242 59505242 single base substitution T A intron_variant BRCA-EU 8 59505242 59505242 single base substitution T A upstream_gene_variant BRCA-EU 8 59507038 59507038 single base substitution C G downstream_gene_variant BRCA-EU 8 59507038 59507038 single base substitution C G exon_variant BRCA-EU 8 59507038 59507038 single base substitution C G intron_variant BRCA-EU 8 59507038 59507038 single base substitution C G upstream_gene_variant BRCA-EU 8 59507371 59507371 single base substitution G A downstream_gene_variant BRCA-EU 8 59507371 59507371 single base substitution G A exon_variant BRCA-EU 8 59507371 59507371 single base substitution G A intron_variant BRCA-EU 8 59507371 59507371 single base substitution G A upstream_gene_variant BRCA-EU 8 59509651 59509651 single base substitution C A downstream_gene_variant BRCA-EU 8 59509651 59509651 single base substitution C A intron_variant BRCA-EU 8 59509651 59509651 single base substitution C A upstream_gene_variant BRCA-EU 8 59510701 59510701 single base substitution G A downstream_gene_variant BRCA-EU 8 59510701 59510701 single base substitution G A intron_variant BRCA-EU 8 59510701 59510701 single base substitution G A upstream_gene_variant BRCA-EU 8 59511534 59511534 single base substitution A C downstream_gene_variant BRCA-EU 8 59511534 59511534 single base substitution A C intron_variant BRCA-EU 8 59511534 59511534 single base substitution A C upstream_gene_variant BRCA-EU 8 59511693 59511693 deletion of <=200bp T - downstream_gene_variant BRCA-EU 8 59511693 59511693 deletion of <=200bp T - intron_variant BRCA-EU 8 59511693 59511693 deletion of <=200bp T - upstream_gene_variant BRCA-EU 8 59512344 59512344 single base substitution A G downstream_gene_variant BRCA-EU 8 59512344 59512344 single base substitution A G exon_variant BRCA-EU 8 59512344 59512344 single base substitution A G missense_variant M473T 1418T>C BRCA-EU 8 59512344 59512344 single base substitution A G missense_variant M504T 1511T>C BRCA-EU 8 59512344 59512344 single base substitution A G upstream_gene_variant BRCA-EU 8 59512728 59512728 single base substitution C T downstream_gene_variant BRCA-EU 8 59512728 59512728 single base substitution C T exon_variant BRCA-EU 8 59512728 59512728 single base substitution C T intron_variant BRCA-EU 8 59512728 59512728 single base substitution C T upstream_gene_variant BRCA-EU 8 59513284 59513284 single base substitution G A downstream_gene_variant BRCA-EU 8 59513284 59513284 single base substitution G A intron_variant BRCA-EU 8 59513284 59513284 single base substitution G A upstream_gene_variant BRCA-EU 8 59513821 59513821 single base substitution T G exon_variant BRCA-EU 8 59513821 59513821 single base substitution T G intron_variant BRCA-EU 8 59513821 59513821 single base substitution T G upstream_gene_variant BRCA-EU 8 59516011 59516011 single base substitution G A intron_variant BRCA-EU 8 59516011 59516011 single base substitution G A upstream_gene_variant BRCA-EU 8 59517302 59517305 deletion of <=200bp TTTG - intron_variant BRCA-EU 8 59517302 59517305 deletion of <=200bp TTTG - upstream_gene_variant BRCA-EU 8 59517977 59517977 single base substitution A C intron_variant BRCA-EU 8 59518595 59518595 single base substitution C G splice_acceptor_variant BRCA-EU 8 59518823 59518823 single base substitution C T intron_variant BRCA-EU 8 59518837 59518850 deletion of <=200bp GTAAATCACCTTGA - intron_variant BRCA-EU 8 59519076 59519076 single base substitution T C intron_variant BRCA-EU 8 59519085 59519085 single base substitution C A intron_variant BRCA-EU 8 59519100 59519100 single base substitution G C intron_variant BRCA-EU 8 59519120 59519120 single base substitution G A intron_variant BRCA-EU 8 59520093 59520093 single base substitution C T intron_variant BRCA-EU 8 59520246 59520257 deletion of <=200bp CATAAGTGTTTA - intron_variant BRCA-EU 8 59520833 59520833 single base substitution C T intron_variant BRCA-EU 8 59522801 59522801 single base substitution A C intron_variant BRCA-EU 8 59524846 59524846 single base substitution G A intron_variant BRCA-EU 8 59525663 59525663 single base substitution G C intron_variant BRCA-EU 8 59526564 59526564 single base substitution T C intron_variant BRCA-EU 8 59527558 59527558 deletion of <=200bp A - intron_variant BRCA-EU 8 59529119 59529119 single base substitution G A intron_variant BRCA-EU 8 59531287 59531287 single base substitution C T intron_variant BRCA-EU 8 59531386 59531386 single base substitution G A downstream_gene_variant BRCA-EU 8 59531386 59531386 single base substitution G A intron_variant BRCA-EU 8 59533075 59533075 single base substitution A G downstream_gene_variant BRCA-EU 8 59533075 59533075 single base substitution A G intron_variant BRCA-EU 8 59533845 59533845 insertion of <=200bp - T downstream_gene_variant BRCA-EU 8 59533845 59533845 insertion of <=200bp - T intron_variant BRCA-EU 8 59534288 59534288 single base substitution G C downstream_gene_variant BRCA-EU 8 59534288 59534288 single base substitution G C intron_variant BRCA-EU 8 59535782 59535782 deletion of <=200bp T - downstream_gene_variant BRCA-EU 8 59535782 59535782 deletion of <=200bp T - exon_variant BRCA-EU 8 59535782 59535782 deletion of <=200bp T - frameshift_variant N185 BRCA-EU 8 59535782 59535782 deletion of <=200bp T - frameshift_variant N216 BRCA-EU 8 59535862 59535862 insertion of <=200bp - AA downstream_gene_variant BRCA-EU 8 59535862 59535862 insertion of <=200bp - AA intron_variant BRCA-EU 8 59537478 59537478 single base substitution A G intron_variant BRCA-EU 8 59537478 59537478 single base substitution A G upstream_gene_variant BRCA-EU 8 59537649 59537649 single base substitution C G intron_variant BRCA-EU 8 59537649 59537649 single base substitution C G upstream_gene_variant BRCA-EU 8 59537760 59537760 single base substitution T C intron_variant BRCA-EU 8 59537760 59537760 single base substitution T C upstream_gene_variant BRCA-EU 8 59538503 59538503 single base substitution C T intron_variant BRCA-EU 8 59538503 59538503 single base substitution C T upstream_gene_variant BRCA-EU 8 59539643 59539643 single base substitution G A downstream_gene_variant BRCA-EU 8 59539643 59539643 single base substitution G A intron_variant BRCA-EU 8 59539643 59539643 single base substitution G A upstream_gene_variant BRCA-EU 8 59540176 59540176 deletion of <=200bp A - downstream_gene_variant BRCA-EU 8 59540176 59540176 deletion of <=200bp A - intron_variant BRCA-EU 8 59540176 59540176 deletion of <=200bp A - upstream_gene_variant BRCA-EU 8 59540538 59540538 single base substitution C T downstream_gene_variant BRCA-EU 8 59540538 59540538 single base substitution C T intron_variant BRCA-EU 8 59540538 59540538 single base substitution C T upstream_gene_variant BRCA-EU 8 59542264 59542264 single base substitution C T downstream_gene_variant BRCA-EU 8 59542264 59542264 single base substitution C T intron_variant BRCA-EU 8 59544228 59544228 single base substitution A G intron_variant BRCA-EU 8 59544556 59544556 single base substitution G A intron_variant BRCA-EU 8 59545749 59545749 single base substitution G A intron_variant BRCA-EU 8 59547739 59547739 single base substitution T C intron_variant BRCA-EU 8 59548470 59548470 single base substitution T C intron_variant BRCA-EU 8 59548584 59548584 single base substitution T C intron_variant BRCA-EU 8 59548657 59548657 single base substitution T C intron_variant BRCA-EU 8 59548940 59548940 single base substitution A T intron_variant BRCA-EU 8 59549813 59549813 single base substitution C T 3_prime_UTR_variant BRCA-EU 8 59549813 59549813 single base substitution C T intron_variant BRCA-EU 8 59549976 59549976 single base substitution C T intron_variant BRCA-EU 8 59550918 59550918 single base substitution A G intron_variant BRCA-EU 8 59550985 59550985 single base substitution C T intron_variant BRCA-EU 8 59551031 59551031 single base substitution C T intron_variant BRCA-EU 8 59551543 59551543 single base substitution C G intron_variant BRCA-EU 8 59553391 59553391 single base substitution G A intron_variant BRCA-EU 8 59555495 59555495 single base substitution G C intron_variant BRCA-EU 8 59555778 59555778 single base substitution C G intron_variant BRCA-EU 8 59556207 59556207 single base substitution C T intron_variant BRCA-EU 8 59556599 59556599 single base substitution G C intron_variant BRCA-EU 8 59556946 59556946 single base substitution A T intron_variant BRCA-EU 8 59557865 59557865 single base substitution G C intron_variant BRCA-EU 8 59558370 59558370 single base substitution C T intron_variant BRCA-EU 8 59561325 59561325 single base substitution G A intron_variant BRCA-EU 8 59563744 59563744 single base substitution A C intron_variant BRCA-EU 8 59564507 59564507 single base substitution C A intron_variant BRCA-EU 8 59565672 59565672 single base substitution C G intron_variant BRCA-EU 8 59565820 59565820 single base substitution C T intron_variant BRCA-EU 8 59566595 59566595 single base substitution G C intron_variant BRCA-EU 8 59567433 59567433 single base substitution G A intron_variant BRCA-EU 8 59569950 59569950 single base substitution C T intron_variant BRCA-EU 8 59571365 59571365 single base substitution G A intron_variant BRCA-EU 8 59572615 59572615 single base substitution G A upstream_gene_variant BRCA-EU 8 59574205 59574205 single base substitution G A upstream_gene_variant BRCA-EU 8 59574896 59574896 insertion of <=200bp - A upstream_gene_variant BRCA-EU 8 59574941 59574941 single base substitution C G upstream_gene_variant BRCA-EU 8 59576826 59576826 single base substitution C G upstream_gene_variant BRCA-FR 8 59502448 59502448 single base substitution C A downstream_gene_variant BRCA-FR 8 59502448 59502448 single base substitution C A exon_variant BRCA-FR 8 59502448 59502448 single base substitution C A intron_variant BRCA-FR 8 59502448 59502448 single base substitution C A upstream_gene_variant BRCA-FR 8 59502664 59502664 single base substitution C G downstream_gene_variant BRCA-FR 8 59502664 59502664 single base substitution C G intron_variant BRCA-FR 8 59502664 59502664 single base substitution C G upstream_gene_variant BRCA-FR 8 59511534 59511534 single base substitution A C downstream_gene_variant BRCA-FR 8 59511534 59511534 single base substitution A C intron_variant BRCA-FR 8 59511534 59511534 single base substitution A C upstream_gene_variant BRCA-FR 8 59515363 59515363 single base substitution G C intron_variant BRCA-FR 8 59515363 59515363 single base substitution G C upstream_gene_variant BRCA-FR 8 59515403 59515403 single base substitution C T intron_variant BRCA-FR 8 59515403 59515403 single base substitution C T upstream_gene_variant BRCA-FR 8 59526564 59526564 single base substitution T C intron_variant BRCA-FR 8 59531129 59531129 single base substitution T C intron_variant BRCA-FR 8 59537760 59537760 single base substitution T C intron_variant BRCA-FR 8 59537760 59537760 single base substitution T C upstream_gene_variant BRCA-FR 8 59557318 59557318 single base substitution T C intron_variant BRCA-FR 8 59558587 59558587 single base substitution C T intron_variant BRCA-FR 8 59574941 59574941 single base substitution C G upstream_gene_variant BRCA-KR 8 59499169 59499169 single base substitution T C downstream_gene_variant BRCA-KR 8 59499169 59499169 single base substitution T C splice_acceptor_variant BRCA-KR 8 59499169 59499169 single base substitution T C upstream_gene_variant BRCA-UK 8 59519085 59519085 single base substitution C A intron_variant BRCA-UK 8 59532963 59532963 single base substitution C T downstream_gene_variant BRCA-UK 8 59532963 59532963 single base substitution C T intron_variant BRCA-UK 8 59553391 59553391 single base substitution G A intron_variant BRCA-UK 8 59558159 59558159 single base substitution G A intron_variant BRCA-US 8 59492212 59492212 single base substitution G A downstream_gene_variant BRCA-US 8 59498560 59498560 single base substitution C G downstream_gene_variant BRCA-US 8 59498560 59498560 single base substitution C G splice_acceptor_variant BRCA-US 8 59500239 59500239 single base substitution C G downstream_gene_variant BRCA-US 8 59500239 59500239 single base substitution C G exon_variant BRCA-US 8 59500239 59500239 single base substitution C G missense_variant E745Q 2233G>C BRCA-US 8 59500239 59500239 single base substitution C G missense_variant E776Q 2326G>C BRCA-US 8 59500239 59500239 single base substitution C G upstream_gene_variant BRCA-US 8 59502584 59502584 single base substitution G T downstream_gene_variant BRCA-US 8 59502584 59502584 single base substitution G T exon_variant BRCA-US 8 59502584 59502584 single base substitution G T missense_variant S690Y 2069C>A BRCA-US 8 59502584 59502584 single base substitution G T missense_variant S721Y 2162C>A BRCA-US 8 59502584 59502584 single base substitution G T upstream_gene_variant BTCA-JP 8 59499123 59499123 single base substitution G A downstream_gene_variant BTCA-JP 8 59499123 59499123 single base substitution G A exon_variant BTCA-JP 8 59499123 59499123 single base substitution G A synonymous_variant S780S 2340C>T BTCA-JP 8 59499123 59499123 single base substitution G A synonymous_variant S811S 2433C>T BTCA-JP 8 59508194 59508194 single base substitution G A downstream_gene_variant BTCA-JP 8 59508194 59508194 single base substitution G A exon_variant BTCA-JP 8 59508194 59508194 single base substitution G A missense_variant T606I 1817C>T BTCA-JP 8 59508194 59508194 single base substitution G A missense_variant T637I 1910C>T BTCA-JP 8 59508194 59508194 single base substitution G A upstream_gene_variant BTCA-JP 8 59512440 59512440 single base substitution C T downstream_gene_variant BTCA-JP 8 59512440 59512440 single base substitution C T intron_variant BTCA-JP 8 59512440 59512440 single base substitution C T upstream_gene_variant BTCA-JP 8 59514090 59514090 single base substitution C T exon_variant BTCA-JP 8 59514090 59514090 single base substitution C T missense_variant R377H 1130G>A BTCA-JP 8 59514090 59514090 single base substitution C T missense_variant R408H 1223G>A BTCA-JP 8 59514090 59514090 single base substitution C T upstream_gene_variant BTCA-JP 8 59518562 59518562 single base substitution C T exon_variant BTCA-JP 8 59518562 59518562 single base substitution C T synonymous_variant L264L 792G>A BTCA-JP 8 59518562 59518562 single base substitution C T synonymous_variant L295L 885G>A BTCA-JP 8 59544035 59544035 single base substitution A C exon_variant BTCA-JP 8 59544035 59544035 single base substitution A C intron_variant CESC-US 8 59493158 59493158 single base substitution T C downstream_gene_variant CESC-US 8 59511903 59511903 single base substitution C A downstream_gene_variant CESC-US 8 59511903 59511903 single base substitution C A exon_variant CESC-US 8 59511903 59511903 single base substitution C A missense_variant Q491H 1473G>T CESC-US 8 59511903 59511903 single base substitution C A missense_variant Q522H 1566G>T CESC-US 8 59511903 59511903 single base substitution C A upstream_gene_variant CESC-US 8 59518528 59518528 single base substitution G C exon_variant CESC-US 8 59518528 59518528 single base substitution G C missense_variant Q276E 826C>G CESC-US 8 59518528 59518528 single base substitution G C missense_variant Q307E 919C>G CESC-US 8 59520362 59520362 single base substitution C T exon_variant CESC-US 8 59520362 59520362 single base substitution C T missense_variant R242H 725G>A CESC-US 8 59520362 59520362 single base substitution C T missense_variant R273H 818G>A CESC-US 8 59547876 59547876 single base substitution C G 3_prime_UTR_variant CESC-US 8 59547876 59547876 single base substitution C G exon_variant CESC-US 8 59547876 59547876 single base substitution C G missense_variant R126T 377G>C CESC-US 8 59547876 59547876 single base substitution C G missense_variant R95T 284G>C CLLE-ES 8 59511056 59511056 insertion of <=200bp - AG downstream_gene_variant CLLE-ES 8 59511056 59511056 insertion of <=200bp - AG intron_variant CLLE-ES 8 59511056 59511056 insertion of <=200bp - AG upstream_gene_variant CLLE-ES 8 59520330 59520330 single base substitution G A splice_region_variant CLLE-ES 8 59520414 59520414 single base substitution A C intron_variant CLLE-ES 8 59541883 59541883 single base substitution T C downstream_gene_variant CLLE-ES 8 59541883 59541883 single base substitution T C intron_variant COAD-US 8 59498553 59498553 single base substitution C T downstream_gene_variant COAD-US 8 59498553 59498553 single base substitution C T exon_variant COAD-US 8 59498553 59498553 single base substitution C T missense_variant R818H 2453G>A COAD-US 8 59498553 59498553 single base substitution C T missense_variant R849H 2546G>A COAD-US 8 59500221 59500221 deletion of <=200bp T - downstream_gene_variant COAD-US 8 59500221 59500221 deletion of <=200bp T - exon_variant COAD-US 8 59500221 59500221 deletion of <=200bp T - frameshift_variant R751 COAD-US 8 59500221 59500221 deletion of <=200bp T - frameshift_variant R782 COAD-US 8 59500221 59500221 deletion of <=200bp T - upstream_gene_variant COAD-US 8 59508169 59508169 single base substitution C T downstream_gene_variant COAD-US 8 59508169 59508169 single base substitution C T exon_variant COAD-US 8 59508169 59508169 single base substitution C T stop_gained W614* 1842G>A COAD-US 8 59508169 59508169 single base substitution C T stop_gained W645* 1935G>A COAD-US 8 59508169 59508169 single base substitution C T upstream_gene_variant COAD-US 8 59510074 59510074 single base substitution G C downstream_gene_variant COAD-US 8 59510074 59510074 single base substitution G C exon_variant COAD-US 8 59510074 59510074 single base substitution G C missense_variant T555R 1664C>G COAD-US 8 59510074 59510074 single base substitution G C missense_variant T586R 1757C>G COAD-US 8 59510074 59510074 single base substitution G C upstream_gene_variant COAD-US 8 59512379 59512379 single base substitution C T downstream_gene_variant COAD-US 8 59512379 59512379 single base substitution C T exon_variant COAD-US 8 59512379 59512379 single base substitution C T synonymous_variant L461L 1383G>A COAD-US 8 59512379 59512379 single base substitution C T synonymous_variant L492L 1476G>A COAD-US 8 59512379 59512379 single base substitution C T upstream_gene_variant COAD-US 8 59514034 59514034 single base substitution C T exon_variant COAD-US 8 59514034 59514034 single base substitution C T missense_variant G396S 1186G>A COAD-US 8 59514034 59514034 single base substitution C T missense_variant G427S 1279G>A COAD-US 8 59514034 59514034 single base substitution C T upstream_gene_variant COAD-US 8 59522180 59522180 single base substitution G T exon_variant COAD-US 8 59522180 59522180 single base substitution G T missense_variant P224T 670C>A COAD-US 8 59522180 59522180 single base substitution G T missense_variant P255T 763C>A COAD-US 8 59535942 59535942 single base substitution G A downstream_gene_variant COAD-US 8 59535942 59535942 single base substitution G A exon_variant COAD-US 8 59535942 59535942 single base substitution G A synonymous_variant T166T 498C>T COAD-US 8 59535942 59535942 single base substitution G A synonymous_variant T197T 591C>T COAD-US 8 59547771 59547771 single base substitution C A 3_prime_UTR_variant COAD-US 8 59547771 59547771 single base substitution C A exon_variant COAD-US 8 59547771 59547771 single base substitution C A missense_variant G104C 310G>T COAD-US 8 59547771 59547771 single base substitution C A missense_variant G135C 403G>T COAD-US 8 59571856 59571856 single base substitution A C intron_variant COAD-US 8 59571856 59571856 single base substitution A C missense_variant I17S 50T>G COAD-US 8 59571856 59571856 single base substitution A C upstream_gene_variant COCA-CN 8 59493171 59493171 single base substitution A T downstream_gene_variant COCA-CN 8 59493236 59493236 single base substitution C A downstream_gene_variant COCA-CN 8 59496934 59496934 single base substitution C T downstream_gene_variant COCA-CN 8 59496934 59496934 single base substitution C T intron_variant COCA-CN 8 59501137 59501137 single base substitution A C downstream_gene_variant COCA-CN 8 59501137 59501137 single base substitution A C intron_variant COCA-CN 8 59501137 59501137 single base substitution A C upstream_gene_variant COCA-CN 8 59501279 59501279 single base substitution G A downstream_gene_variant COCA-CN 8 59501279 59501279 single base substitution G A intron_variant COCA-CN 8 59501279 59501279 single base substitution G A upstream_gene_variant COCA-CN 8 59505470 59505470 single base substitution C A downstream_gene_variant COCA-CN 8 59505470 59505470 single base substitution C A intron_variant COCA-CN 8 59505470 59505470 single base substitution C A upstream_gene_variant COCA-CN 8 59505478 59505478 single base substitution A C downstream_gene_variant COCA-CN 8 59505478 59505478 single base substitution A C intron_variant COCA-CN 8 59505478 59505478 single base substitution A C upstream_gene_variant COCA-CN 8 59510151 59510151 single base substitution C T downstream_gene_variant COCA-CN 8 59510151 59510151 single base substitution C T intron_variant COCA-CN 8 59510151 59510151 single base substitution C T upstream_gene_variant COCA-CN 8 59511068 59511068 single base substitution A G downstream_gene_variant COCA-CN 8 59511068 59511068 single base substitution A G intron_variant COCA-CN 8 59511068 59511068 single base substitution A G upstream_gene_variant COCA-CN 8 59511756 59511756 single base substitution C T downstream_gene_variant COCA-CN 8 59511756 59511756 single base substitution C T intron_variant COCA-CN 8 59511756 59511756 single base substitution C T upstream_gene_variant COCA-CN 8 59511917 59511917 single base substitution C T downstream_gene_variant COCA-CN 8 59511917 59511917 single base substitution C T exon_variant COCA-CN 8 59511917 59511917 single base substitution C T missense_variant E487K 1459G>A COCA-CN 8 59511917 59511917 single base substitution C T missense_variant E518K 1552G>A COCA-CN 8 59511917 59511917 single base substitution C T upstream_gene_variant COCA-CN 8 59513979 59513979 single base substitution T G intron_variant COCA-CN 8 59513979 59513979 single base substitution T G upstream_gene_variant COCA-CN 8 59520182 59520182 single base substitution G T intron_variant COCA-CN 8 59522750 59522750 single base substitution C T intron_variant COCA-CN 8 59532969 59532969 single base substitution C T downstream_gene_variant COCA-CN 8 59532969 59532969 single base substitution C T intron_variant COCA-CN 8 59535860 59535860 single base substitution T A downstream_gene_variant COCA-CN 8 59535860 59535860 single base substitution T A intron_variant COCA-CN 8 59536204 59536204 single base substitution C T downstream_gene_variant COCA-CN 8 59536204 59536204 single base substitution C T intron_variant COCA-CN 8 59536204 59536204 single base substitution C T upstream_gene_variant COCA-CN 8 59537941 59537941 single base substitution A G intron_variant COCA-CN 8 59537941 59537941 single base substitution A G upstream_gene_variant COCA-CN 8 59537951 59537951 single base substitution G A intron_variant COCA-CN 8 59537951 59537951 single base substitution G A upstream_gene_variant COCA-CN 8 59537953 59537953 single base substitution A G intron_variant COCA-CN 8 59537953 59537953 single base substitution A G upstream_gene_variant COCA-CN 8 59537957 59537957 single base substitution G A intron_variant COCA-CN 8 59537957 59537957 single base substitution G A upstream_gene_variant COCA-CN 8 59540579 59540579 single base substitution G A downstream_gene_variant COCA-CN 8 59540579 59540579 single base substitution G A intron_variant COCA-CN 8 59540579 59540579 single base substitution G A upstream_gene_variant COCA-CN 8 59547804 59547804 single base substitution C A intron_variant COCA-CN 8 59548642 59548642 single base substitution G C intron_variant COCA-CN 8 59555646 59555646 single base substitution G A intron_variant COCA-CN 8 59555656 59555656 single base substitution C T intron_variant COCA-CN 8 59567973 59567973 single base substitution C T intron_variant COCA-CN 8 59568584 59568584 single base substitution G T intron_variant COCA-CN 8 59571854 59571854 single base substitution G A intron_variant COCA-CN 8 59571854 59571854 single base substitution G A missense_variant R18W 52C>T COCA-CN 8 59571854 59571854 single base substitution G A upstream_gene_variant COCA-CN 8 59574015 59574015 single base substitution A G upstream_gene_variant COCA-CN 8 59576697 59576697 single base substitution C T upstream_gene_variant EOPC-DE 8 59508124 59508124 single base substitution G A downstream_gene_variant EOPC-DE 8 59508124 59508124 single base substitution G A exon_variant EOPC-DE 8 59508124 59508124 single base substitution G A synonymous_variant H629H 1887C>T EOPC-DE 8 59508124 59508124 single base substitution G A synonymous_variant H660H 1980C>T EOPC-DE 8 59508124 59508124 single base substitution G A upstream_gene_variant EOPC-DE 8 59512118 59512118 single base substitution T C downstream_gene_variant EOPC-DE 8 59512118 59512118 single base substitution T C intron_variant EOPC-DE 8 59512118 59512118 single base substitution T C upstream_gene_variant ESAD-UK 8 59491380 59491380 single base substitution C A downstream_gene_variant ESAD-UK 8 59491548 59491550 deletion of <=200bp ATG - downstream_gene_variant ESAD-UK 8 59492929 59492929 single base substitution G C downstream_gene_variant ESAD-UK 8 59493187 59493187 single base substitution A G downstream_gene_variant ESAD-UK 8 59493551 59493551 single base substitution G A downstream_gene_variant ESAD-UK 8 59497175 59497175 single base substitution A C downstream_gene_variant ESAD-UK 8 59497175 59497175 single base substitution A C intron_variant ESAD-UK 8 59497205 59497205 deletion of <=200bp T - downstream_gene_variant ESAD-UK 8 59497205 59497205 deletion of <=200bp T - intron_variant ESAD-UK 8 59499547 59499547 single base substitution A C downstream_gene_variant ESAD-UK 8 59499547 59499547 single base substitution A C intron_variant ESAD-UK 8 59499547 59499547 single base substitution A C upstream_gene_variant ESAD-UK 8 59502584 59502584 single base substitution G A downstream_gene_variant ESAD-UK 8 59502584 59502584 single base substitution G A exon_variant ESAD-UK 8 59502584 59502584 single base substitution G A missense_variant S690F 2069C>T ESAD-UK 8 59502584 59502584 single base substitution G A missense_variant S721F 2162C>T ESAD-UK 8 59502584 59502584 single base substitution G A upstream_gene_variant ESAD-UK 8 59504754 59504754 insertion of <=200bp - A intron_variant ESAD-UK 8 59504754 59504754 insertion of <=200bp - A upstream_gene_variant ESAD-UK 8 59505476 59505476 single base substitution C A downstream_gene_variant ESAD-UK 8 59505476 59505476 single base substitution C A intron_variant ESAD-UK 8 59505476 59505476 single base substitution C A upstream_gene_variant ESAD-UK 8 59506041 59506041 single base substitution G A downstream_gene_variant ESAD-UK 8 59506041 59506041 single base substitution G A intron_variant ESAD-UK 8 59506041 59506041 single base substitution G A upstream_gene_variant ESAD-UK 8 59507175 59507175 single base substitution C T downstream_gene_variant ESAD-UK 8 59507175 59507175 single base substitution C T exon_variant ESAD-UK 8 59507175 59507175 single base substitution C T intron_variant ESAD-UK 8 59507175 59507175 single base substitution C T upstream_gene_variant ESAD-UK 8 59507999 59507999 single base substitution A G downstream_gene_variant ESAD-UK 8 59507999 59507999 single base substitution A G intron_variant ESAD-UK 8 59507999 59507999 single base substitution A G upstream_gene_variant ESAD-UK 8 59509951 59509951 single base substitution G A downstream_gene_variant ESAD-UK 8 59509951 59509951 single base substitution G A exon_variant ESAD-UK 8 59509951 59509951 single base substitution G A missense_variant S596F 1787C>T ESAD-UK 8 59509951 59509951 single base substitution G A missense_variant S627F 1880C>T ESAD-UK 8 59509951 59509951 single base substitution G A upstream_gene_variant ESAD-UK 8 59511429 59511429 deletion of <=200bp A - downstream_gene_variant ESAD-UK 8 59511429 59511429 deletion of <=200bp A - intron_variant ESAD-UK 8 59511429 59511429 deletion of <=200bp A - upstream_gene_variant ESAD-UK 8 59514407 59514407 single base substitution A T intron_variant ESAD-UK 8 59514407 59514407 single base substitution A T upstream_gene_variant ESAD-UK 8 59515580 59515580 single base substitution C T intron_variant ESAD-UK 8 59515580 59515580 single base substitution C T upstream_gene_variant ESAD-UK 8 59515933 59515933 single base substitution G A exon_variant ESAD-UK 8 59515933 59515933 single base substitution G A missense_variant A294V 881C>T ESAD-UK 8 59515933 59515933 single base substitution G A missense_variant A325V 974C>T ESAD-UK 8 59515933 59515933 single base substitution G A upstream_gene_variant ESAD-UK 8 59516882 59516882 single base substitution A C intron_variant ESAD-UK 8 59516882 59516882 single base substitution A C upstream_gene_variant ESAD-UK 8 59517910 59517910 single base substitution C A intron_variant ESAD-UK 8 59518226 59518226 single base substitution C A intron_variant ESAD-UK 8 59518479 59518479 single base substitution G A splice_region_variant ESAD-UK 8 59518832 59518832 single base substitution A G intron_variant ESAD-UK 8 59520260 59520260 single base substitution G A intron_variant ESAD-UK 8 59521556 59521556 single base substitution C G intron_variant ESAD-UK 8 59523366 59523366 single base substitution G C intron_variant ESAD-UK 8 59525869 59525869 single base substitution G A intron_variant ESAD-UK 8 59525951 59525951 single base substitution G T intron_variant ESAD-UK 8 59526129 59526129 single base substitution A C intron_variant ESAD-UK 8 59527516 59527516 single base substitution T A intron_variant ESAD-UK 8 59528401 59528401 deletion of <=200bp A - intron_variant ESAD-UK 8 59528475 59528475 single base substitution T C intron_variant ESAD-UK 8 59529920 59529920 single base substitution G C intron_variant ESAD-UK 8 59533706 59533706 single base substitution C T downstream_gene_variant ESAD-UK 8 59533706 59533706 single base substitution C T intron_variant ESAD-UK 8 59534437 59534437 single base substitution C T downstream_gene_variant ESAD-UK 8 59534437 59534437 single base substitution C T intron_variant ESAD-UK 8 59534607 59534607 single base substitution C A downstream_gene_variant ESAD-UK 8 59534607 59534607 single base substitution C A intron_variant ESAD-UK 8 59535181 59535181 single base substitution T A downstream_gene_variant ESAD-UK 8 59535181 59535181 single base substitution T A intron_variant ESAD-UK 8 59535527 59535527 single base substitution A T downstream_gene_variant ESAD-UK 8 59535527 59535527 single base substitution A T intron_variant ESAD-UK 8 59543140 59543140 single base substitution G A downstream_gene_variant ESAD-UK 8 59543140 59543140 single base substitution G A intron_variant ESAD-UK 8 59546517 59546517 single base substitution A G intron_variant ESAD-UK 8 59546990 59546990 single base substitution A C intron_variant ESAD-UK 8 59550255 59550255 single base substitution T C intron_variant ESAD-UK 8 59554138 59554138 single base substitution A C intron_variant ESAD-UK 8 59554193 59554193 single base substitution T C intron_variant ESAD-UK 8 59554295 59554295 single base substitution G A intron_variant ESAD-UK 8 59555162 59555162 single base substitution A G intron_variant ESAD-UK 8 59556104 59556104 single base substitution T G intron_variant ESAD-UK 8 59556716 59556716 single base substitution G C intron_variant ESAD-UK 8 59557120 59557120 single base substitution T A intron_variant ESAD-UK 8 59559995 59559995 single base substitution A G intron_variant ESAD-UK 8 59561076 59561076 single base substitution G A intron_variant ESAD-UK 8 59564602 59564602 single base substitution G C intron_variant ESAD-UK 8 59566732 59566732 single base substitution G A intron_variant ESAD-UK 8 59567206 59567206 single base substitution G A intron_variant ESAD-UK 8 59568034 59568034 single base substitution C G intron_variant ESAD-UK 8 59568283 59568283 single base substitution G A intron_variant ESAD-UK 8 59568616 59568616 single base substitution C T intron_variant ESAD-UK 8 59571375 59571375 single base substitution G A intron_variant ESAD-UK 8 59571538 59571538 single base substitution A T intron_variant ESAD-UK 8 59573353 59573353 single base substitution A C upstream_gene_variant ESAD-UK 8 59574949 59574949 single base substitution C T upstream_gene_variant ESCA-CN 8 59501815 59501815 single base substitution G A downstream_gene_variant ESCA-CN 8 59501815 59501815 single base substitution G A intron_variant ESCA-CN 8 59501815 59501815 single base substitution G A upstream_gene_variant GBM-US 8 59492353 59492353 single base substitution G A downstream_gene_variant GBM-US 8 59512581 59512581 single base substitution C T downstream_gene_variant GBM-US 8 59512581 59512581 single base substitution C T exon_variant GBM-US 8 59512581 59512581 single base substitution C T splice_acceptor_variant GBM-US 8 59512581 59512581 single base substitution C T upstream_gene_variant GBM-US 8 59548070 59548070 single base substitution G A 3_prime_UTR_variant GBM-US 8 59548070 59548070 single base substitution G A exon_variant GBM-US 8 59548070 59548070 single base substitution G A missense_variant S62L 185C>T GBM-US 8 59548070 59548070 single base substitution G A missense_variant S93L 278C>T KIRC-US 8 59506790 59506790 single base substitution C G downstream_gene_variant KIRC-US 8 59506790 59506790 single base substitution C G splice_donor_variant KIRC-US 8 59506790 59506790 single base substitution C G upstream_gene_variant KIRC-US 8 59514096 59514096 single base substitution T C splice_acceptor_variant KIRC-US 8 59514096 59514096 single base substitution T C upstream_gene_variant KIRC-US 8 59515834 59515834 single base substitution C T exon_variant KIRC-US 8 59515834 59515834 single base substitution C T missense_variant C327Y 980G>A KIRC-US 8 59515834 59515834 single base substitution C T missense_variant C358Y 1073G>A KIRC-US 8 59515834 59515834 single base substitution C T upstream_gene_variant KIRP-US 8 59498243 59498243 single base substitution G T downstream_gene_variant KIRP-US 8 59498243 59498243 single base substitution G T exon_variant KIRP-US 8 59498243 59498243 single base substitution G T missense_variant A876E 2627C>A KIRP-US 8 59498243 59498243 single base substitution G T missense_variant A907E 2720C>A LAML-KR 8 59508076 59508076 single base substitution A G downstream_gene_variant LAML-KR 8 59508076 59508076 single base substitution A G intron_variant LAML-KR 8 59508076 59508076 single base substitution A G upstream_gene_variant LAML-KR 8 59515622 59515622 single base substitution C T intron_variant LAML-KR 8 59515622 59515622 single base substitution C T upstream_gene_variant LAML-KR 8 59515756 59515756 single base substitution G A intron_variant LAML-KR 8 59515756 59515756 single base substitution G A upstream_gene_variant LAML-KR 8 59555731 59555731 single base substitution T A intron_variant LAML-KR 8 59574015 59574015 single base substitution A G upstream_gene_variant LICA-CN 8 59547911 59547911 single base substitution T A 3_prime_UTR_variant LICA-CN 8 59547911 59547911 single base substitution T A exon_variant LICA-CN 8 59547911 59547911 single base substitution T A synonymous_variant I114I 342A>T LICA-CN 8 59547911 59547911 single base substitution T A synonymous_variant I83I 249A>T LICA-FR 8 59493817 59493818 deletion of <=200bp TT - downstream_gene_variant LICA-FR 8 59497224 59497224 single base substitution G A downstream_gene_variant LICA-FR 8 59497224 59497224 single base substitution G A intron_variant LICA-FR 8 59519873 59519873 single base substitution G C intron_variant LICA-FR 8 59521898 59521898 single base substitution G C intron_variant LICA-FR 8 59537966 59537966 insertion of <=200bp - TATGTATGTATA intron_variant LICA-FR 8 59537966 59537966 insertion of <=200bp - TATGTATGTATA upstream_gene_variant LICA-FR 8 59566821 59566821 single base substitution A T intron_variant LIHC-US 8 59498516 59498516 single base substitution A G downstream_gene_variant LIHC-US 8 59498516 59498516 single base substitution A G exon_variant LIHC-US 8 59498516 59498516 single base substitution A G synonymous_variant N830N 2490T>C LIHC-US 8 59498516 59498516 single base substitution A G synonymous_variant N861N 2583T>C LIHC-US 8 59536325 59536325 single base substitution A G 3_prime_UTR_variant LIHC-US 8 59536325 59536325 single base substitution A G synonymous_variant Y133Y 399T>C LIHC-US 8 59536325 59536325 single base substitution A G synonymous_variant Y164Y 492T>C LIHC-US 8 59536325 59536325 single base substitution A G upstream_gene_variant LINC-JP 8 59494398 59494398 single base substitution T C downstream_gene_variant LINC-JP 8 59498256 59498256 single base substitution C T downstream_gene_variant LINC-JP 8 59498256 59498256 single base substitution C T exon_variant LINC-JP 8 59498256 59498256 single base substitution C T missense_variant D872N 2614G>A LINC-JP 8 59498256 59498256 single base substitution C T missense_variant D903N 2707G>A LINC-JP 8 59499075 59499075 single base substitution G C downstream_gene_variant LINC-JP 8 59499075 59499075 single base substitution G C exon_variant LINC-JP 8 59499075 59499075 single base substitution G C synonymous_variant T796T 2388C>G LINC-JP 8 59499075 59499075 single base substitution G C synonymous_variant T827T 2481C>G LINC-JP 8 59499206 59499206 single base substitution T C downstream_gene_variant LINC-JP 8 59499206 59499206 single base substitution T C intron_variant LINC-JP 8 59499206 59499206 single base substitution T C upstream_gene_variant LINC-JP 8 59508199 59508199 single base substitution G A downstream_gene_variant LINC-JP 8 59508199 59508199 single base substitution G A exon_variant LINC-JP 8 59508199 59508199 single base substitution G A synonymous_variant D604D 1812C>T LINC-JP 8 59508199 59508199 single base substitution G A synonymous_variant D635D 1905C>T LINC-JP 8 59508199 59508199 single base substitution G A upstream_gene_variant LINC-JP 8 59512507 59512507 single base substitution A T downstream_gene_variant LINC-JP 8 59512507 59512507 single base substitution A T intron_variant LINC-JP 8 59512507 59512507 single base substitution A T upstream_gene_variant LINC-JP 8 59514106 59514106 insertion of <=200bp - AA intron_variant LINC-JP 8 59514106 59514106 insertion of <=200bp - AA upstream_gene_variant LINC-JP 8 59519437 59519437 single base substitution A C intron_variant LINC-JP 8 59538040 59538040 single base substitution T C intron_variant LINC-JP 8 59538040 59538040 single base substitution T C upstream_gene_variant LINC-JP 8 59540724 59540724 single base substitution G A downstream_gene_variant LINC-JP 8 59540724 59540724 single base substitution G A intron_variant LINC-JP 8 59540724 59540724 single base substitution G A upstream_gene_variant LINC-JP 8 59542877 59542878 deletion of <=200bp TT - downstream_gene_variant LINC-JP 8 59542877 59542878 deletion of <=200bp TT - intron_variant LINC-JP 8 59543833 59543833 deletion of <=200bp T - downstream_gene_variant LINC-JP 8 59543833 59543833 deletion of <=200bp T - intron_variant LINC-JP 8 59576406 59576406 single base substitution C G upstream_gene_variant LIRI-JP 8 59491881 59491881 single base substitution A G downstream_gene_variant LIRI-JP 8 59492642 59492642 single base substitution A C downstream_gene_variant LIRI-JP 8 59495171 59495171 single base substitution T G downstream_gene_variant LIRI-JP 8 59495954 59495954 single base substitution T C downstream_gene_variant LIRI-JP 8 59496255 59496255 single base substitution A C 3_prime_UTR_variant LIRI-JP 8 59496255 59496255 single base substitution A C downstream_gene_variant LIRI-JP 8 59496491 59496491 single base substitution G C 3_prime_UTR_variant LIRI-JP 8 59496491 59496491 single base substitution G C downstream_gene_variant LIRI-JP 8 59496491 59496491 single base substitution G C exon_variant LIRI-JP 8 59497250 59497250 single base substitution A T downstream_gene_variant LIRI-JP 8 59497250 59497250 single base substitution A T intron_variant LIRI-JP 8 59498512 59498512 single base substitution T C downstream_gene_variant LIRI-JP 8 59498512 59498512 single base substitution T C exon_variant LIRI-JP 8 59498512 59498512 single base substitution T C missense_variant I832V 2494A>G LIRI-JP 8 59498512 59498512 single base substitution T C missense_variant I863V 2587A>G LIRI-JP 8 59500195 59500195 single base substitution C A downstream_gene_variant LIRI-JP 8 59500195 59500195 single base substitution C A exon_variant LIRI-JP 8 59500195 59500195 single base substitution C A missense_variant E759D 2277G>T LIRI-JP 8 59500195 59500195 single base substitution C A missense_variant E790D 2370G>T LIRI-JP 8 59500195 59500195 single base substitution C A upstream_gene_variant LIRI-JP 8 59500540 59500540 single base substitution G T downstream_gene_variant LIRI-JP 8 59500540 59500540 single base substitution G T intron_variant LIRI-JP 8 59500540 59500540 single base substitution G T upstream_gene_variant LIRI-JP 8 59504310 59504310 single base substitution T C intron_variant LIRI-JP 8 59504310 59504310 single base substitution T C upstream_gene_variant LIRI-JP 8 59504388 59504388 single base substitution C T intron_variant LIRI-JP 8 59504388 59504388 single base substitution C T upstream_gene_variant LIRI-JP 8 59504958 59504958 single base substitution A C intron_variant LIRI-JP 8 59504958 59504958 single base substitution A C upstream_gene_variant LIRI-JP 8 59505322 59505322 single base substitution T C downstream_gene_variant LIRI-JP 8 59505322 59505322 single base substitution T C intron_variant LIRI-JP 8 59505322 59505322 single base substitution T C upstream_gene_variant LIRI-JP 8 59506538 59506538 single base substitution G A downstream_gene_variant LIRI-JP 8 59506538 59506538 single base substitution G A intron_variant LIRI-JP 8 59506538 59506538 single base substitution G A upstream_gene_variant LIRI-JP 8 59506962 59506962 single base substitution C T downstream_gene_variant LIRI-JP 8 59506962 59506962 single base substitution C T exon_variant LIRI-JP 8 59506962 59506962 single base substitution C T intron_variant LIRI-JP 8 59506962 59506962 single base substitution C T upstream_gene_variant LIRI-JP 8 59507826 59507826 single base substitution T A downstream_gene_variant LIRI-JP 8 59507826 59507826 single base substitution T A intron_variant LIRI-JP 8 59507826 59507826 single base substitution T A upstream_gene_variant LIRI-JP 8 59508174 59508180 deletion of <=200bp CCAGTGT - downstream_gene_variant LIRI-JP 8 59508174 59508180 deletion of <=200bp CCAGTGT - exon_variant LIRI-JP 8 59508174 59508180 deletion of <=200bp CCAGTGT - frameshift_variant TLA611 LIRI-JP 8 59508174 59508180 deletion of <=200bp CCAGTGT - frameshift_variant TLA642 LIRI-JP 8 59508174 59508180 deletion of <=200bp CCAGTGT - upstream_gene_variant LIRI-JP 8 59508803 59508803 single base substitution T C downstream_gene_variant LIRI-JP 8 59508803 59508803 single base substitution T C intron_variant LIRI-JP 8 59508803 59508803 single base substitution T C upstream_gene_variant LIRI-JP 8 59510658 59510658 single base substitution A T downstream_gene_variant LIRI-JP 8 59510658 59510658 single base substitution A T intron_variant LIRI-JP 8 59510658 59510658 single base substitution A T upstream_gene_variant LIRI-JP 8 59511347 59511347 single base substitution C A downstream_gene_variant LIRI-JP 8 59511347 59511347 single base substitution C A intron_variant LIRI-JP 8 59511347 59511347 single base substitution C A upstream_gene_variant LIRI-JP 8 59516392 59516392 single base substitution T C intron_variant LIRI-JP 8 59516392 59516392 single base substitution T C upstream_gene_variant LIRI-JP 8 59517950 59517950 single base substitution A C intron_variant LIRI-JP 8 59519103 59519103 single base substitution T C intron_variant LIRI-JP 8 59519574 59519574 single base substitution G A intron_variant LIRI-JP 8 59521040 59521040 single base substitution G A intron_variant LIRI-JP 8 59521838 59521838 single base substitution T A intron_variant LIRI-JP 8 59524832 59524832 single base substitution T A intron_variant LIRI-JP 8 59529220 59529220 single base substitution C A intron_variant LIRI-JP 8 59530322 59530322 single base substitution A G intron_variant LIRI-JP 8 59530400 59530400 single base substitution A G intron_variant LIRI-JP 8 59531212 59531212 single base substitution T C intron_variant LIRI-JP 8 59532137 59532137 single base substitution T C downstream_gene_variant LIRI-JP 8 59532137 59532137 single base substitution T C intron_variant LIRI-JP 8 59532222 59532222 single base substitution T C downstream_gene_variant LIRI-JP 8 59532222 59532222 single base substitution T C intron_variant LIRI-JP 8 59533080 59533080 single base substitution A T downstream_gene_variant LIRI-JP 8 59533080 59533080 single base substitution A T intron_variant LIRI-JP 8 59533246 59533246 single base substitution T C downstream_gene_variant LIRI-JP 8 59533246 59533246 single base substitution T C intron_variant LIRI-JP 8 59536153 59536153 single base substitution T C downstream_gene_variant LIRI-JP 8 59536153 59536153 single base substitution T C intron_variant LIRI-JP 8 59536153 59536153 single base substitution T C upstream_gene_variant LIRI-JP 8 59539478 59539478 single base substitution A G downstream_gene_variant LIRI-JP 8 59539478 59539478 single base substitution A G intron_variant LIRI-JP 8 59539478 59539478 single base substitution A G upstream_gene_variant LIRI-JP 8 59539518 59539518 single base substitution T C downstream_gene_variant LIRI-JP 8 59539518 59539518 single base substitution T C intron_variant LIRI-JP 8 59539518 59539518 single base substitution T C upstream_gene_variant LIRI-JP 8 59539521 59539521 single base substitution T C downstream_gene_variant LIRI-JP 8 59539521 59539521 single base substitution T C intron_variant LIRI-JP 8 59539521 59539521 single base substitution T C upstream_gene_variant LIRI-JP 8 59539813 59539813 single base substitution T C downstream_gene_variant LIRI-JP 8 59539813 59539813 single base substitution T C intron_variant LIRI-JP 8 59539813 59539813 single base substitution T C upstream_gene_variant LIRI-JP 8 59545255 59545255 single base substitution C T intron_variant LIRI-JP 8 59548484 59548484 single base substitution T C intron_variant LIRI-JP 8 59549749 59549749 single base substitution C T intron_variant LIRI-JP 8 59549915 59549915 single base substitution C A exon_variant LIRI-JP 8 59549915 59549915 single base substitution C A intron_variant LIRI-JP 8 59553907 59553907 single base substitution A G intron_variant LIRI-JP 8 59561298 59561298 single base substitution C A intron_variant LIRI-JP 8 59561698 59561698 single base substitution T C intron_variant LIRI-JP 8 59561801 59561801 single base substitution A T intron_variant LIRI-JP 8 59563262 59563262 single base substitution T A intron_variant LIRI-JP 8 59563305 59563305 single base substitution T C intron_variant LIRI-JP 8 59570042 59570042 single base substitution G A intron_variant LIRI-JP 8 59570610 59570610 single base substitution T G intron_variant LIRI-JP 8 59570902 59570902 single base substitution A G intron_variant LIRI-JP 8 59571286 59571286 single base substitution C A intron_variant LIRI-JP 8 59576347 59576347 single base substitution A G upstream_gene_variant LIRI-JP 8 59576880 59576880 single base substitution C A upstream_gene_variant LIRI-JP 8 59577231 59577231 single base substitution C G upstream_gene_variant LUSC-KR 8 59495931 59495931 single base substitution T G downstream_gene_variant LUSC-KR 8 59496416 59496416 single base substitution C T 3_prime_UTR_variant LUSC-KR 8 59496416 59496416 single base substitution C T downstream_gene_variant LUSC-KR 8 59496416 59496416 single base substitution C T exon_variant LUSC-KR 8 59496490 59496490 single base substitution A G 3_prime_UTR_variant LUSC-KR 8 59496490 59496490 single base substitution A G downstream_gene_variant LUSC-KR 8 59496490 59496490 single base substitution A G exon_variant LUSC-KR 8 59497501 59497501 single base substitution T A downstream_gene_variant LUSC-KR 8 59497501 59497501 single base substitution T A intron_variant LUSC-KR 8 59499237 59499237 single base substitution G A downstream_gene_variant LUSC-KR 8 59499237 59499237 single base substitution G A intron_variant LUSC-KR 8 59499237 59499237 single base substitution G A upstream_gene_variant LUSC-KR 8 59500926 59500926 single base substitution A T downstream_gene_variant LUSC-KR 8 59500926 59500926 single base substitution A T intron_variant LUSC-KR 8 59500926 59500926 single base substitution A T upstream_gene_variant LUSC-KR 8 59501025 59501025 single base substitution T C downstream_gene_variant LUSC-KR 8 59501025 59501025 single base substitution T C intron_variant LUSC-KR 8 59501025 59501025 single base substitution T C upstream_gene_variant LUSC-KR 8 59501056 59501056 single base substitution C A downstream_gene_variant LUSC-KR 8 59501056 59501056 single base substitution C A intron_variant LUSC-KR 8 59501056 59501056 single base substitution C A upstream_gene_variant LUSC-KR 8 59501283 59501283 single base substitution C A downstream_gene_variant LUSC-KR 8 59501283 59501283 single base substitution C A intron_variant LUSC-KR 8 59501283 59501283 single base substitution C A upstream_gene_variant LUSC-KR 8 59501863 59501863 single base substitution G A downstream_gene_variant LUSC-KR 8 59501863 59501863 single base substitution G A intron_variant LUSC-KR 8 59501863 59501863 single base substitution G A upstream_gene_variant LUSC-KR 8 59502535 59502535 single base substitution G A downstream_gene_variant LUSC-KR 8 59502535 59502535 single base substitution G A exon_variant LUSC-KR 8 59502535 59502535 single base substitution G A intron_variant LUSC-KR 8 59502535 59502535 single base substitution G A upstream_gene_variant LUSC-KR 8 59503042 59503042 single base substitution T C downstream_gene_variant LUSC-KR 8 59503042 59503042 single base substitution T C intron_variant LUSC-KR 8 59503042 59503042 single base substitution T C upstream_gene_variant LUSC-KR 8 59504068 59504068 single base substitution C T intron_variant LUSC-KR 8 59504068 59504068 single base substitution C T upstream_gene_variant LUSC-KR 8 59504765 59504765 single base substitution G A intron_variant LUSC-KR 8 59504765 59504765 single base substitution G A upstream_gene_variant LUSC-KR 8 59508134 59508134 single base substitution T C downstream_gene_variant LUSC-KR 8 59508134 59508134 single base substitution T C exon_variant LUSC-KR 8 59508134 59508134 single base substitution T C missense_variant Y626C 1877A>G LUSC-KR 8 59508134 59508134 single base substitution T C missense_variant Y657C 1970A>G LUSC-KR 8 59508134 59508134 single base substitution T C upstream_gene_variant LUSC-KR 8 59509553 59509553 single base substitution T A downstream_gene_variant LUSC-KR 8 59509553 59509553 single base substitution T A intron_variant LUSC-KR 8 59509553 59509553 single base substitution T A upstream_gene_variant LUSC-KR 8 59509917 59509917 single base substitution C A downstream_gene_variant LUSC-KR 8 59509917 59509917 single base substitution C A intron_variant LUSC-KR 8 59509917 59509917 single base substitution C A upstream_gene_variant LUSC-KR 8 59513714 59513714 single base substitution A G downstream_gene_variant LUSC-KR 8 59513714 59513714 single base substitution A G intron_variant LUSC-KR 8 59513714 59513714 single base substitution A G upstream_gene_variant LUSC-KR 8 59514535 59514535 single base substitution G A intron_variant LUSC-KR 8 59514535 59514535 single base substitution G A upstream_gene_variant LUSC-KR 8 59517561 59517561 single base substitution C T intron_variant LUSC-KR 8 59517561 59517561 single base substitution C T upstream_gene_variant LUSC-KR 8 59523620 59523620 single base substitution G C intron_variant LUSC-KR 8 59526490 59526490 single base substitution T C intron_variant LUSC-KR 8 59526596 59526596 single base substitution C A intron_variant LUSC-KR 8 59537957 59537957 single base substitution G A intron_variant LUSC-KR 8 59537957 59537957 single base substitution G A upstream_gene_variant LUSC-KR 8 59538464 59538464 single base substitution T A intron_variant LUSC-KR 8 59538464 59538464 single base substitution T A upstream_gene_variant LUSC-KR 8 59543244 59543244 single base substitution T C downstream_gene_variant LUSC-KR 8 59543244 59543244 single base substitution T C intron_variant LUSC-KR 8 59543393 59543393 single base substitution C T downstream_gene_variant LUSC-KR 8 59543393 59543393 single base substitution C T intron_variant LUSC-KR 8 59546247 59546247 single base substitution C A intron_variant LUSC-KR 8 59555656 59555656 single base substitution C T intron_variant LUSC-KR 8 59557167 59557167 single base substitution T A intron_variant LUSC-KR 8 59570455 59570455 single base substitution C G intron_variant LUSC-KR 8 59571221 59571221 single base substitution C T intron_variant LUSC-KR 8 59571864 59571864 single base substitution G T intron_variant LUSC-KR 8 59571864 59571864 single base substitution G T stop_gained C14* 42C>A LUSC-KR 8 59571864 59571864 single base substitution G T upstream_gene_variant LUSC-KR 8 59574015 59574015 single base substitution A G upstream_gene_variant LUSC-KR 8 59576136 59576136 single base substitution A T upstream_gene_variant LUSC-KR 8 59576229 59576229 single base substitution T C upstream_gene_variant LUSC-US 8 59502566 59502566 single base substitution A G downstream_gene_variant LUSC-US 8 59502566 59502566 single base substitution A G exon_variant LUSC-US 8 59502566 59502566 single base substitution A G missense_variant V696A 2087T>C LUSC-US 8 59502566 59502566 single base substitution A G missense_variant V727A 2180T>C LUSC-US 8 59502566 59502566 single base substitution A G splice_region_variant LUSC-US 8 59502566 59502566 single base substitution A G upstream_gene_variant LUSC-US 8 59506795 59506795 single base substitution G A downstream_gene_variant LUSC-US 8 59506795 59506795 single base substitution G A exon_variant LUSC-US 8 59506795 59506795 single base substitution G A synonymous_variant S649S 1947C>T LUSC-US 8 59506795 59506795 single base substitution G A synonymous_variant S680S 2040C>T LUSC-US 8 59506795 59506795 single base substitution G A upstream_gene_variant LUSC-US 8 59510037 59510037 single base substitution T C downstream_gene_variant LUSC-US 8 59510037 59510037 single base substitution T C exon_variant LUSC-US 8 59510037 59510037 single base substitution T C synonymous_variant L567L 1701A>G LUSC-US 8 59510037 59510037 single base substitution T C synonymous_variant L598L 1794A>G LUSC-US 8 59510037 59510037 single base substitution T C upstream_gene_variant LUSC-US 8 59510091 59510091 single base substitution C T downstream_gene_variant LUSC-US 8 59510091 59510091 single base substitution C T exon_variant LUSC-US 8 59510091 59510091 single base substitution C T synonymous_variant E549E 1647G>A LUSC-US 8 59510091 59510091 single base substitution C T synonymous_variant E580E 1740G>A LUSC-US 8 59510091 59510091 single base substitution C T upstream_gene_variant LUSC-US 8 59514042 59514042 single base substitution G C exon_variant LUSC-US 8 59514042 59514042 single base substitution G C missense_variant S393C 1178C>G LUSC-US 8 59514042 59514042 single base substitution G C missense_variant S424C 1271C>G LUSC-US 8 59514042 59514042 single base substitution G C upstream_gene_variant LUSC-US 8 59514692 59514692 single base substitution C A exon_variant LUSC-US 8 59514692 59514692 single base substitution C A missense_variant L350F 1050G>T LUSC-US 8 59514692 59514692 single base substitution C A missense_variant L381F 1143G>T LUSC-US 8 59514692 59514692 single base substitution C A upstream_gene_variant LUSC-US 8 59515778 59515778 single base substitution A G exon_variant LUSC-US 8 59515778 59515778 single base substitution A G missense_variant S346P 1036T>C LUSC-US 8 59515778 59515778 single base substitution A G missense_variant S377P 1129T>C LUSC-US 8 59515778 59515778 single base substitution A G upstream_gene_variant MALY-DE 8 59494392 59494392 single base substitution C T downstream_gene_variant MALY-DE 8 59510263 59510263 single base substitution C T downstream_gene_variant MALY-DE 8 59510263 59510263 single base substitution C T intron_variant MALY-DE 8 59510263 59510263 single base substitution C T upstream_gene_variant MALY-DE 8 59515731 59515731 single base substitution C A intron_variant MALY-DE 8 59515731 59515731 single base substitution C A upstream_gene_variant MALY-DE 8 59516959 59516959 single base substitution A T intron_variant MALY-DE 8 59516959 59516959 single base substitution A T upstream_gene_variant MALY-DE 8 59524569 59524569 single base substitution T A intron_variant MALY-DE 8 59527375 59527375 single base substitution G A intron_variant MALY-DE 8 59532068 59532068 single base substitution T C downstream_gene_variant MALY-DE 8 59532068 59532068 single base substitution T C intron_variant MALY-DE 8 59537306 59537306 single base substitution T A intron_variant MALY-DE 8 59537306 59537306 single base substitution T A upstream_gene_variant MALY-DE 8 59542001 59542001 single base substitution A G downstream_gene_variant MALY-DE 8 59542001 59542001 single base substitution A G intron_variant MALY-DE 8 59546697 59546697 single base substitution C A intron_variant MALY-DE 8 59546880 59546880 single base substitution T A intron_variant MALY-DE 8 59549577 59549578 deletion of <=200bp AC - intron_variant MALY-DE 8 59549934 59549934 single base substitution G T exon_variant MALY-DE 8 59549934 59549934 single base substitution G T intron_variant MALY-DE 8 59550772 59550772 single base substitution A G intron_variant MALY-DE 8 59561889 59561889 single base substitution A C intron_variant MALY-DE 8 59562189 59562189 single base substitution C G intron_variant MALY-DE 8 59564112 59564112 single base substitution T C intron_variant MALY-DE 8 59565389 59565392 deletion of <=200bp CAGA - intron_variant MALY-DE 8 59565813 59565813 single base substitution A C intron_variant MALY-DE 8 59570178 59570178 single base substitution G A intron_variant MALY-DE 8 59572639 59572639 single base substitution G C upstream_gene_variant MELA-AU 8 59491671 59491671 single base substitution G A downstream_gene_variant MELA-AU 8 59491953 59491953 single base substitution A G downstream_gene_variant MELA-AU 8 59491955 59491955 single base substitution G A downstream_gene_variant MELA-AU 8 59492262 59492262 single base substitution C A downstream_gene_variant MELA-AU 8 59493142 59493142 single base substitution T G downstream_gene_variant MELA-AU 8 59493316 59493316 single base substitution G A downstream_gene_variant MELA-AU 8 59493418 59493418 single base substitution G A downstream_gene_variant MELA-AU 8 59493502 59493502 single base substitution T C downstream_gene_variant MELA-AU 8 59493916 59493916 single base substitution A G downstream_gene_variant MELA-AU 8 59494025 59494025 single base substitution T C downstream_gene_variant MELA-AU 8 59494177 59494177 single base substitution G A downstream_gene_variant MELA-AU 8 59494187 59494187 single base substitution G A downstream_gene_variant MELA-AU 8 59494249 59494249 single base substitution G A downstream_gene_variant MELA-AU 8 59494291 59494291 single base substitution G A downstream_gene_variant MELA-AU 8 59494369 59494369 single base substitution A T downstream_gene_variant MELA-AU 8 59494377 59494377 single base substitution C T downstream_gene_variant MELA-AU 8 59494592 59494592 single base substitution A G downstream_gene_variant MELA-AU 8 59495758 59495758 single base substitution C T downstream_gene_variant MELA-AU 8 59496379 59496379 single base substitution C T 3_prime_UTR_variant MELA-AU 8 59496379 59496379 single base substitution C T downstream_gene_variant MELA-AU 8 59496379 59496379 single base substitution C T exon_variant MELA-AU 8 59497927 59497932 deletion of <=200bp TTACCT - downstream_gene_variant MELA-AU 8 59497927 59497932 deletion of <=200bp TTACCT - intron_variant MELA-AU 8 59497980 59497980 single base substitution A G downstream_gene_variant MELA-AU 8 59497980 59497980 single base substitution A G intron_variant MELA-AU 8 59503691 59503691 single base substitution C A intron_variant MELA-AU 8 59503691 59503691 single base substitution C A upstream_gene_variant MELA-AU 8 59504181 59504181 single base substitution G A intron_variant MELA-AU 8 59504181 59504181 single base substitution G A upstream_gene_variant MELA-AU 8 59504365 59504365 single base substitution C T intron_variant MELA-AU 8 59504365 59504365 single base substitution C T upstream_gene_variant MELA-AU 8 59504695 59504695 single base substitution G C intron_variant MELA-AU 8 59504695 59504695 single base substitution G C upstream_gene_variant MELA-AU 8 59504880 59504880 single base substitution G A intron_variant MELA-AU 8 59504880 59504880 single base substitution G A upstream_gene_variant MELA-AU 8 59505018 59505018 single base substitution A C downstream_gene_variant MELA-AU 8 59505018 59505018 single base substitution A C intron_variant MELA-AU 8 59505018 59505018 single base substitution A C upstream_gene_variant MELA-AU 8 59505315 59505316 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 8 59505315 59505316 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 59505315 59505316 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 8 59505353 59505353 single base substitution G A downstream_gene_variant MELA-AU 8 59505353 59505353 single base substitution G A intron_variant MELA-AU 8 59505353 59505353 single base substitution G A upstream_gene_variant MELA-AU 8 59505435 59505435 single base substitution G A downstream_gene_variant MELA-AU 8 59505435 59505435 single base substitution G A intron_variant MELA-AU 8 59505435 59505435 single base substitution G A upstream_gene_variant MELA-AU 8 59507569 59507569 single base substitution G A downstream_gene_variant MELA-AU 8 59507569 59507569 single base substitution G A intron_variant MELA-AU 8 59507569 59507569 single base substitution G A upstream_gene_variant MELA-AU 8 59508188 59508188 single base substitution T A downstream_gene_variant MELA-AU 8 59508188 59508188 single base substitution T A exon_variant MELA-AU 8 59508188 59508188 single base substitution T A missense_variant E608V 1823A>T MELA-AU 8 59508188 59508188 single base substitution T A missense_variant E639V 1916A>T MELA-AU 8 59508188 59508188 single base substitution T A upstream_gene_variant MELA-AU 8 59509098 59509098 single base substitution C A downstream_gene_variant MELA-AU 8 59509098 59509098 single base substitution C A intron_variant MELA-AU 8 59509098 59509098 single base substitution C A upstream_gene_variant MELA-AU 8 59509294 59509294 single base substitution C T downstream_gene_variant MELA-AU 8 59509294 59509294 single base substitution C T intron_variant MELA-AU 8 59509294 59509294 single base substitution C T upstream_gene_variant MELA-AU 8 59509628 59509628 single base substitution G T downstream_gene_variant MELA-AU 8 59509628 59509628 single base substitution G T intron_variant MELA-AU 8 59509628 59509628 single base substitution G T upstream_gene_variant MELA-AU 8 59511076 59511076 single base substitution A G downstream_gene_variant MELA-AU 8 59511076 59511076 single base substitution A G intron_variant MELA-AU 8 59511076 59511076 single base substitution A G upstream_gene_variant MELA-AU 8 59511081 59511081 single base substitution A G downstream_gene_variant MELA-AU 8 59511081 59511081 single base substitution A G intron_variant MELA-AU 8 59511081 59511081 single base substitution A G upstream_gene_variant MELA-AU 8 59511093 59511093 single base substitution G A downstream_gene_variant MELA-AU 8 59511093 59511093 single base substitution G A intron_variant MELA-AU 8 59511093 59511093 single base substitution G A upstream_gene_variant MELA-AU 8 59512778 59512778 single base substitution C T downstream_gene_variant MELA-AU 8 59512778 59512778 single base substitution C T intron_variant MELA-AU 8 59512778 59512778 single base substitution C T upstream_gene_variant MELA-AU 8 59513160 59513160 single base substitution G A downstream_gene_variant MELA-AU 8 59513160 59513160 single base substitution G A intron_variant MELA-AU 8 59513160 59513160 single base substitution G A upstream_gene_variant MELA-AU 8 59513464 59513464 single base substitution G A downstream_gene_variant MELA-AU 8 59513464 59513464 single base substitution G A intron_variant MELA-AU 8 59513464 59513464 single base substitution G A upstream_gene_variant MELA-AU 8 59514305 59514305 single base substitution G A intron_variant MELA-AU 8 59514305 59514305 single base substitution G A upstream_gene_variant MELA-AU 8 59514542 59514542 single base substitution G A intron_variant MELA-AU 8 59514542 59514542 single base substitution G A upstream_gene_variant MELA-AU 8 59515646 59515646 single base substitution T C intron_variant MELA-AU 8 59515646 59515646 single base substitution T C upstream_gene_variant MELA-AU 8 59516009 59516009 single base substitution G A intron_variant MELA-AU 8 59516009 59516009 single base substitution G A upstream_gene_variant MELA-AU 8 59519629 59519629 single base substitution A C intron_variant MELA-AU 8 59520523 59520523 single base substitution G A intron_variant MELA-AU 8 59520825 59520825 single base substitution T A intron_variant MELA-AU 8 59522903 59522903 single base substitution G A intron_variant MELA-AU 8 59523143 59523143 single base substitution A G intron_variant MELA-AU 8 59523255 59523255 single base substitution G A intron_variant MELA-AU 8 59523763 59523763 single base substitution C T intron_variant MELA-AU 8 59524161 59524161 single base substitution G A intron_variant MELA-AU 8 59524352 59524352 single base substitution G A intron_variant MELA-AU 8 59524607 59524607 single base substitution A T intron_variant MELA-AU 8 59525469 59525469 single base substitution G A intron_variant MELA-AU 8 59525544 59525544 single base substitution G A intron_variant MELA-AU 8 59529086 59529086 single base substitution A G intron_variant MELA-AU 8 59529150 59529150 single base substitution G A intron_variant MELA-AU 8 59529452 59529452 single base substitution G A intron_variant MELA-AU 8 59529459 59529459 deletion of <=200bp A - intron_variant MELA-AU 8 59529726 59529726 single base substitution G A intron_variant MELA-AU 8 59531067 59531068 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 59531578 59531578 single base substitution G A downstream_gene_variant MELA-AU 8 59531578 59531578 single base substitution G A intron_variant MELA-AU 8 59531628 59531628 single base substitution G T downstream_gene_variant MELA-AU 8 59531628 59531628 single base substitution G T intron_variant MELA-AU 8 59532318 59532318 single base substitution G A downstream_gene_variant MELA-AU 8 59532318 59532318 single base substitution G A intron_variant MELA-AU 8 59532870 59532870 single base substitution G A downstream_gene_variant MELA-AU 8 59532870 59532870 single base substitution G A intron_variant MELA-AU 8 59533363 59533363 single base substitution G A downstream_gene_variant MELA-AU 8 59533363 59533363 single base substitution G A intron_variant MELA-AU 8 59533489 59533489 single base substitution G A downstream_gene_variant MELA-AU 8 59533489 59533489 single base substitution G A intron_variant MELA-AU 8 59533569 59533569 single base substitution A G downstream_gene_variant MELA-AU 8 59533569 59533569 single base substitution A G intron_variant MELA-AU 8 59534041 59534041 single base substitution G A downstream_gene_variant MELA-AU 8 59534041 59534041 single base substitution G A intron_variant MELA-AU 8 59535051 59535051 single base substitution C A downstream_gene_variant MELA-AU 8 59535051 59535051 single base substitution C A intron_variant MELA-AU 8 59536205 59536205 single base substitution G A downstream_gene_variant MELA-AU 8 59536205 59536205 single base substitution G A intron_variant MELA-AU 8 59536205 59536205 single base substitution G A upstream_gene_variant MELA-AU 8 59536305 59536305 single base substitution G A downstream_gene_variant MELA-AU 8 59536305 59536305 single base substitution G A missense_variant P140L 419C>T MELA-AU 8 59536305 59536305 single base substitution G A missense_variant P171L 512C>T MELA-AU 8 59536305 59536305 single base substitution G A upstream_gene_variant MELA-AU 8 59536438 59536438 single base substitution C T intron_variant MELA-AU 8 59536438 59536438 single base substitution C T upstream_gene_variant MELA-AU 8 59536681 59536681 single base substitution A G intron_variant MELA-AU 8 59536681 59536681 single base substitution A G upstream_gene_variant MELA-AU 8 59537068 59537068 single base substitution G C intron_variant MELA-AU 8 59537068 59537068 single base substitution G C upstream_gene_variant MELA-AU 8 59537082 59537082 single base substitution T C intron_variant MELA-AU 8 59537082 59537082 single base substitution T C upstream_gene_variant MELA-AU 8 59537826 59537826 single base substitution G A intron_variant MELA-AU 8 59537826 59537826 single base substitution G A upstream_gene_variant MELA-AU 8 59537935 59537935 single base substitution C A intron_variant MELA-AU 8 59537935 59537935 single base substitution C A upstream_gene_variant MELA-AU 8 59537941 59537941 single base substitution A G intron_variant MELA-AU 8 59537941 59537941 single base substitution A G upstream_gene_variant MELA-AU 8 59538475 59538475 single base substitution A T intron_variant MELA-AU 8 59538475 59538475 single base substitution A T upstream_gene_variant MELA-AU 8 59538717 59538717 single base substitution G A intron_variant MELA-AU 8 59538717 59538717 single base substitution G A upstream_gene_variant MELA-AU 8 59539274 59539274 single base substitution G A downstream_gene_variant MELA-AU 8 59539274 59539274 single base substitution G A intron_variant MELA-AU 8 59539274 59539274 single base substitution G A upstream_gene_variant MELA-AU 8 59539859 59539859 single base substitution G A downstream_gene_variant MELA-AU 8 59539859 59539859 single base substitution G A intron_variant MELA-AU 8 59539859 59539859 single base substitution G A upstream_gene_variant MELA-AU 8 59539910 59539910 single base substitution G A downstream_gene_variant MELA-AU 8 59539910 59539910 single base substitution G A intron_variant MELA-AU 8 59539910 59539910 single base substitution G A upstream_gene_variant MELA-AU 8 59541854 59541854 single base substitution C T downstream_gene_variant MELA-AU 8 59541854 59541854 single base substitution C T intron_variant MELA-AU 8 59542275 59542275 single base substitution G A downstream_gene_variant MELA-AU 8 59542275 59542275 single base substitution G A intron_variant MELA-AU 8 59542528 59542528 single base substitution G A downstream_gene_variant MELA-AU 8 59542528 59542528 single base substitution G A intron_variant MELA-AU 8 59542925 59542925 single base substitution G A downstream_gene_variant MELA-AU 8 59542925 59542925 single base substitution G A intron_variant MELA-AU 8 59543358 59543358 single base substitution T C downstream_gene_variant MELA-AU 8 59543358 59543358 single base substitution T C intron_variant MELA-AU 8 59543688 59543688 single base substitution T C downstream_gene_variant MELA-AU 8 59543688 59543688 single base substitution T C intron_variant MELA-AU 8 59544655 59544655 single base substitution G A intron_variant MELA-AU 8 59545573 59545573 single base substitution G A intron_variant MELA-AU 8 59546562 59546562 single base substitution C T intron_variant MELA-AU 8 59546885 59546885 single base substitution G T intron_variant MELA-AU 8 59546986 59546986 single base substitution G A intron_variant MELA-AU 8 59549325 59549326 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 59549351 59549351 single base substitution T G intron_variant MELA-AU 8 59551364 59551364 single base substitution A C intron_variant MELA-AU 8 59551619 59551619 single base substitution G A intron_variant MELA-AU 8 59551660 59551661 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 59552005 59552005 single base substitution A G intron_variant MELA-AU 8 59552917 59552917 single base substitution G A intron_variant MELA-AU 8 59553114 59553114 single base substitution G A intron_variant MELA-AU 8 59553277 59553277 deletion of <=200bp T - intron_variant MELA-AU 8 59553750 59553750 single base substitution G A intron_variant MELA-AU 8 59553830 59553830 single base substitution C G intron_variant MELA-AU 8 59555468 59555468 single base substitution G A intron_variant MELA-AU 8 59555909 59555909 single base substitution A T intron_variant MELA-AU 8 59556380 59556380 single base substitution G C intron_variant MELA-AU 8 59556482 59556482 single base substitution G A intron_variant MELA-AU 8 59556836 59556837 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 59557315 59557315 single base substitution A C intron_variant MELA-AU 8 59557381 59557381 single base substitution G A intron_variant MELA-AU 8 59557498 59557498 single base substitution A G intron_variant MELA-AU 8 59557531 59557531 single base substitution G A intron_variant MELA-AU 8 59557544 59557544 single base substitution G A intron_variant MELA-AU 8 59557758 59557758 single base substitution G A intron_variant MELA-AU 8 59558413 59558413 single base substitution A C intron_variant MELA-AU 8 59558418 59558418 single base substitution G A intron_variant MELA-AU 8 59558830 59558830 single base substitution G A intron_variant MELA-AU 8 59559199 59559199 single base substitution C G intron_variant MELA-AU 8 59559854 59559854 single base substitution A T intron_variant MELA-AU 8 59560411 59560411 single base substitution G A intron_variant MELA-AU 8 59560442 59560442 single base substitution G A intron_variant MELA-AU 8 59560672 59560672 single base substitution G A intron_variant MELA-AU 8 59561403 59561403 single base substitution G A intron_variant MELA-AU 8 59563080 59563080 single base substitution G A intron_variant MELA-AU 8 59563354 59563354 single base substitution C T intron_variant MELA-AU 8 59563819 59563819 single base substitution G A intron_variant MELA-AU 8 59564962 59564962 single base substitution G A intron_variant MELA-AU 8 59565042 59565042 single base substitution G A intron_variant MELA-AU 8 59565849 59565849 single base substitution G A intron_variant MELA-AU 8 59566283 59566283 single base substitution C T intron_variant MELA-AU 8 59566663 59566663 single base substitution G A intron_variant MELA-AU 8 59566746 59566746 single base substitution G A intron_variant MELA-AU 8 59567795 59567795 single base substitution G A intron_variant MELA-AU 8 59568058 59568058 single base substitution G T intron_variant MELA-AU 8 59568180 59568180 single base substitution G A intron_variant MELA-AU 8 59568441 59568442 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 8 59568641 59568641 single base substitution C T intron_variant MELA-AU 8 59569179 59569179 single base substitution G A intron_variant MELA-AU 8 59569283 59569283 single base substitution G A intron_variant MELA-AU 8 59569601 59569601 single base substitution T C intron_variant MELA-AU 8 59571528 59571528 single base substitution C T intron_variant MELA-AU 8 59571930 59571930 single base substitution C T 5_prime_UTR_variant MELA-AU 8 59571930 59571930 single base substitution C T intron_variant MELA-AU 8 59571930 59571930 single base substitution C T upstream_gene_variant MELA-AU 8 59572632 59572632 single base substitution T G upstream_gene_variant MELA-AU 8 59573845 59573845 single base substitution C T upstream_gene_variant MELA-AU 8 59574340 59574340 single base substitution A G upstream_gene_variant MELA-AU 8 59574762 59574762 single base substitution G A upstream_gene_variant MELA-AU 8 59575019 59575019 single base substitution A T upstream_gene_variant MELA-AU 8 59575512 59575512 single base substitution T C upstream_gene_variant MELA-AU 8 59575522 59575523 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 8 59575929 59575929 single base substitution C T upstream_gene_variant MELA-AU 8 59575931 59575931 single base substitution C T upstream_gene_variant MELA-AU 8 59576015 59576015 single base substitution C T upstream_gene_variant MELA-AU 8 59576160 59576160 single base substitution C T upstream_gene_variant MELA-AU 8 59576369 59576369 single base substitution G A upstream_gene_variant MELA-AU 8 59576402 59576402 single base substitution C T upstream_gene_variant MELA-AU 8 59576620 59576621 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 8 59576683 59576683 single base substitution T A upstream_gene_variant MELA-AU 8 59576849 59576849 single base substitution C T upstream_gene_variant MELA-AU 8 59576883 59576883 single base substitution C T upstream_gene_variant MELA-AU 8 59577140 59577140 single base substitution C T upstream_gene_variant ORCA-IN 8 59512082 59512082 single base substitution G A downstream_gene_variant ORCA-IN 8 59512082 59512082 single base substitution G A intron_variant ORCA-IN 8 59512082 59512082 single base substitution G A upstream_gene_variant ORCA-IN 8 59513329 59513329 single base substitution G A downstream_gene_variant ORCA-IN 8 59513329 59513329 single base substitution G A intron_variant ORCA-IN 8 59513329 59513329 single base substitution G A upstream_gene_variant ORCA-IN 8 59513868 59513868 single base substitution T G exon_variant ORCA-IN 8 59513868 59513868 single base substitution T G missense_variant D419A 1256A>C ORCA-IN 8 59513868 59513868 single base substitution T G missense_variant D450A 1349A>C ORCA-IN 8 59513868 59513868 single base substitution T G upstream_gene_variant ORCA-IN 8 59533191 59533191 single base substitution A G downstream_gene_variant ORCA-IN 8 59533191 59533191 single base substitution A G intron_variant ORCA-IN 8 59534435 59534435 single base substitution G A downstream_gene_variant ORCA-IN 8 59534435 59534435 single base substitution G A intron_variant OV-AU 8 59492037 59492037 single base substitution G A downstream_gene_variant OV-AU 8 59493347 59493347 single base substitution C G downstream_gene_variant OV-AU 8 59503373 59503373 single base substitution T G downstream_gene_variant OV-AU 8 59503373 59503373 single base substitution T G intron_variant OV-AU 8 59503373 59503373 single base substitution T G upstream_gene_variant OV-AU 8 59511108 59511108 single base substitution G T downstream_gene_variant OV-AU 8 59511108 59511108 single base substitution G T intron_variant OV-AU 8 59511108 59511108 single base substitution G T upstream_gene_variant OV-AU 8 59514253 59514253 single base substitution C A intron_variant OV-AU 8 59514253 59514253 single base substitution C A upstream_gene_variant OV-AU 8 59514769 59514769 single base substitution A G intron_variant OV-AU 8 59514769 59514769 single base substitution A G upstream_gene_variant OV-AU 8 59517833 59517833 single base substitution G C intron_variant OV-AU 8 59518118 59518118 single base substitution T G intron_variant OV-AU 8 59522927 59522927 single base substitution T A intron_variant OV-AU 8 59530997 59530997 single base substitution T C intron_variant OV-AU 8 59538893 59538893 single base substitution T C intron_variant OV-AU 8 59538893 59538893 single base substitution T C upstream_gene_variant OV-AU 8 59544647 59544647 single base substitution C T intron_variant OV-AU 8 59545493 59545493 single base substitution A C intron_variant OV-AU 8 59552588 59552588 single base substitution G A 3_prime_UTR_variant OV-AU 8 59552588 59552588 single base substitution G A intron_variant OV-AU 8 59555221 59555221 single base substitution G A intron_variant OV-AU 8 59564556 59564556 single base substitution A G intron_variant OV-AU 8 59572209 59572209 single base substitution G A 5_prime_UTR_variant OV-AU 8 59572209 59572209 single base substitution G A exon_variant OV-AU 8 59572209 59572209 single base substitution G A upstream_gene_variant OV-AU 8 59573732 59573732 single base substitution A G upstream_gene_variant OV-AU 8 59575823 59575823 single base substitution A C upstream_gene_variant PACA-AU 8 59498556 59498556 single base substitution C T downstream_gene_variant PACA-AU 8 59498556 59498556 single base substitution C T exon_variant PACA-AU 8 59498556 59498556 single base substitution C T missense_variant S817N 2450G>A PACA-AU 8 59498556 59498556 single base substitution C T missense_variant S848N 2543G>A PACA-AU 8 59502735 59502735 single base substitution G A downstream_gene_variant PACA-AU 8 59502735 59502735 single base substitution G A intron_variant PACA-AU 8 59502735 59502735 single base substitution G A upstream_gene_variant PACA-AU 8 59506496 59506496 single base substitution G A downstream_gene_variant PACA-AU 8 59506496 59506496 single base substitution G A intron_variant PACA-AU 8 59506496 59506496 single base substitution G A upstream_gene_variant PACA-AU 8 59508679 59508679 single base substitution T C downstream_gene_variant PACA-AU 8 59508679 59508679 single base substitution T C intron_variant PACA-AU 8 59508679 59508679 single base substitution T C upstream_gene_variant PACA-AU 8 59511567 59511567 single base substitution G A downstream_gene_variant PACA-AU 8 59511567 59511567 single base substitution G A intron_variant PACA-AU 8 59511567 59511567 single base substitution G A upstream_gene_variant PACA-AU 8 59511642 59511642 single base substitution C A downstream_gene_variant PACA-AU 8 59511642 59511642 single base substitution C A intron_variant PACA-AU 8 59511642 59511642 single base substitution C A upstream_gene_variant PACA-AU 8 59513074 59513074 single base substitution C A downstream_gene_variant PACA-AU 8 59513074 59513074 single base substitution C A intron_variant PACA-AU 8 59513074 59513074 single base substitution C A upstream_gene_variant PACA-AU 8 59514945 59514945 single base substitution A T intron_variant PACA-AU 8 59514945 59514945 single base substitution A T upstream_gene_variant PACA-AU 8 59519358 59519358 single base substitution C T intron_variant PACA-AU 8 59520623 59520623 single base substitution C A intron_variant PACA-AU 8 59533333 59533333 single base substitution G C downstream_gene_variant PACA-AU 8 59533333 59533333 single base substitution G C intron_variant PACA-AU 8 59533381 59533381 single base substitution T G downstream_gene_variant PACA-AU 8 59533381 59533381 single base substitution T G intron_variant PACA-AU 8 59533588 59533588 single base substitution T C downstream_gene_variant PACA-AU 8 59533588 59533588 single base substitution T C intron_variant PACA-AU 8 59534000 59534000 single base substitution T C downstream_gene_variant PACA-AU 8 59534000 59534000 single base substitution T C intron_variant PACA-AU 8 59549663 59549663 single base substitution T C intron_variant PACA-AU 8 59552784 59552820 deletion of <=200bp TGATGGATATGATAATTACTTTGATTGTGGTCAGCAT - intron_variant PACA-AU 8 59554242 59554242 single base substitution G C intron_variant PACA-AU 8 59556326 59556326 single base substitution G A intron_variant PACA-AU 8 59559740 59559740 single base substitution G C intron_variant PACA-AU 8 59574371 59574371 single base substitution C T upstream_gene_variant PACA-CA 8 59496224 59496224 single base substitution C T 3_prime_UTR_variant PACA-CA 8 59496224 59496224 single base substitution C T downstream_gene_variant PACA-CA 8 59496453 59496453 single base substitution T C 3_prime_UTR_variant PACA-CA 8 59496453 59496453 single base substitution T C downstream_gene_variant PACA-CA 8 59496453 59496453 single base substitution T C exon_variant PACA-CA 8 59499486 59499486 single base substitution G A downstream_gene_variant PACA-CA 8 59499486 59499486 single base substitution G A intron_variant PACA-CA 8 59499486 59499486 single base substitution G A upstream_gene_variant PACA-CA 8 59501587 59501587 deletion of <=200bp A - downstream_gene_variant PACA-CA 8 59501587 59501587 deletion of <=200bp A - intron_variant PACA-CA 8 59501587 59501587 deletion of <=200bp A - upstream_gene_variant PACA-CA 8 59506205 59506205 single base substitution A G downstream_gene_variant PACA-CA 8 59506205 59506205 single base substitution A G intron_variant PACA-CA 8 59506205 59506205 single base substitution A G upstream_gene_variant PACA-CA 8 59507912 59507912 single base substitution C A downstream_gene_variant PACA-CA 8 59507912 59507912 single base substitution C A intron_variant PACA-CA 8 59507912 59507912 single base substitution C A upstream_gene_variant PACA-CA 8 59507954 59507954 single base substitution T G downstream_gene_variant PACA-CA 8 59507954 59507954 single base substitution T G intron_variant PACA-CA 8 59507954 59507954 single base substitution T G upstream_gene_variant PACA-CA 8 59512731 59512731 single base substitution C T downstream_gene_variant PACA-CA 8 59512731 59512731 single base substitution C T exon_variant PACA-CA 8 59512731 59512731 single base substitution C T intron_variant PACA-CA 8 59512731 59512731 single base substitution C T upstream_gene_variant PACA-CA 8 59513270 59513270 deletion of <=200bp A - downstream_gene_variant PACA-CA 8 59513270 59513270 deletion of <=200bp A - intron_variant PACA-CA 8 59513270 59513270 deletion of <=200bp A - upstream_gene_variant PACA-CA 8 59514135 59514135 single base substitution G A intron_variant PACA-CA 8 59514135 59514135 single base substitution G A upstream_gene_variant PACA-CA 8 59515301 59515301 single base substitution A G intron_variant PACA-CA 8 59515301 59515301 single base substitution A G upstream_gene_variant PACA-CA 8 59515999 59515999 single base substitution C T intron_variant PACA-CA 8 59515999 59515999 single base substitution C T upstream_gene_variant PACA-CA 8 59516225 59516225 single base substitution T C intron_variant PACA-CA 8 59516225 59516225 single base substitution T C upstream_gene_variant PACA-CA 8 59516411 59516411 single base substitution A C intron_variant PACA-CA 8 59516411 59516411 single base substitution A C upstream_gene_variant PACA-CA 8 59517200 59517200 single base substitution C A intron_variant PACA-CA 8 59517200 59517200 single base substitution C A upstream_gene_variant PACA-CA 8 59521651 59521651 single base substitution C T intron_variant PACA-CA 8 59524990 59524990 single base substitution C A intron_variant PACA-CA 8 59525354 59525354 single base substitution G A intron_variant PACA-CA 8 59526157 59526157 single base substitution A C intron_variant PACA-CA 8 59528200 59528200 deletion of <=200bp A - intron_variant PACA-CA 8 59529559 59529559 single base substitution G C intron_variant PACA-CA 8 59530718 59530718 single base substitution C T intron_variant PACA-CA 8 59530719 59530719 single base substitution G A intron_variant PACA-CA 8 59534287 59534287 single base substitution T C downstream_gene_variant PACA-CA 8 59534287 59534287 single base substitution T C intron_variant PACA-CA 8 59535102 59535102 single base substitution G A downstream_gene_variant PACA-CA 8 59535102 59535102 single base substitution G A intron_variant PACA-CA 8 59536161 59536161 single base substitution A G downstream_gene_variant PACA-CA 8 59536161 59536161 single base substitution A G intron_variant PACA-CA 8 59536161 59536161 single base substitution A G upstream_gene_variant PACA-CA 8 59538474 59538474 single base substitution T A intron_variant PACA-CA 8 59538474 59538474 single base substitution T A upstream_gene_variant PACA-CA 8 59552659 59552659 single base substitution G C intron_variant PACA-CA 8 59552659 59552659 single base substitution G C splice_region_variant PACA-CA 8 59554787 59554790 deletion of <=200bp AAAG - intron_variant PACA-CA 8 59559120 59559120 single base substitution A C intron_variant PACA-CA 8 59560924 59560924 single base substitution G A intron_variant PACA-CA 8 59563165 59563165 single base substitution A C intron_variant PACA-CA 8 59568263 59568263 single base substitution G A intron_variant PACA-CA 8 59569046 59569046 single base substitution T A intron_variant PACA-CA 8 59573291 59573291 single base substitution C G upstream_gene_variant PACA-CA 8 59575600 59575600 single base substitution C A upstream_gene_variant PAEN-AU 8 59548713 59548713 single base substitution C G intron_variant PAEN-IT 8 59518141 59518141 single base substitution T C intron_variant PAEN-IT 8 59551400 59551400 single base substitution G T intron_variant PAEN-IT 8 59560999 59560999 single base substitution G C intron_variant PBCA-DE 8 59499237 59499237 single base substitution G A downstream_gene_variant PBCA-DE 8 59499237 59499237 single base substitution G A intron_variant PBCA-DE 8 59499237 59499237 single base substitution G A upstream_gene_variant PBCA-DE 8 59501137 59501137 single base substitution A C downstream_gene_variant PBCA-DE 8 59501137 59501137 single base substitution A C intron_variant PBCA-DE 8 59501137 59501137 single base substitution A C upstream_gene_variant PBCA-DE 8 59514106 59514107 deletion of <=200bp AA - intron_variant PBCA-DE 8 59514106 59514107 deletion of <=200bp AA - upstream_gene_variant PBCA-DE 8 59515104 59515104 single base substitution A G intron_variant PBCA-DE 8 59515104 59515104 single base substitution A G upstream_gene_variant PBCA-DE 8 59523821 59523821 single base substitution C A intron_variant PBCA-DE 8 59532674 59532674 single base substitution C A downstream_gene_variant PBCA-DE 8 59532674 59532674 single base substitution C A intron_variant PBCA-DE 8 59533362 59533362 single base substitution C T downstream_gene_variant PBCA-DE 8 59533362 59533362 single base substitution C T intron_variant PBCA-DE 8 59534715 59534715 single base substitution G C downstream_gene_variant PBCA-DE 8 59534715 59534715 single base substitution G C intron_variant PBCA-DE 8 59553012 59553012 deletion of <=200bp A - intron_variant PBCA-DE 8 59555795 59555795 single base substitution G A intron_variant PBCA-DE 8 59558596 59558596 single base substitution G A intron_variant PBCA-DE 8 59561182 59561182 single base substitution C T intron_variant PBCA-DE 8 59562639 59562639 single base substitution A G intron_variant PBCA-DE 8 59564947 59564947 single base substitution C T intron_variant PBCA-DE 8 59568057 59568057 single base substitution C A intron_variant PBCA-DE 8 59568609 59568609 single base substitution G A intron_variant PBCA-DE 8 59570511 59570511 single base substitution T C intron_variant PBCA-DE 8 59577063 59577063 insertion of <=200bp - T upstream_gene_variant PRAD-CA 8 59499792 59499792 single base substitution G T downstream_gene_variant PRAD-CA 8 59499792 59499792 single base substitution G T intron_variant PRAD-CA 8 59499792 59499792 single base substitution G T upstream_gene_variant PRAD-CA 8 59500794 59500794 single base substitution T C downstream_gene_variant PRAD-CA 8 59500794 59500794 single base substitution T C intron_variant PRAD-CA 8 59500794 59500794 single base substitution T C upstream_gene_variant PRAD-CA 8 59537941 59537941 single base substitution A G intron_variant PRAD-CA 8 59537941 59537941 single base substitution A G upstream_gene_variant PRAD-UK 8 59513199 59513199 insertion of <=200bp - AAAAAAATAAAAT downstream_gene_variant PRAD-UK 8 59513199 59513199 insertion of <=200bp - AAAAAAATAAAAT intron_variant PRAD-UK 8 59513199 59513199 insertion of <=200bp - AAAAAAATAAAAT upstream_gene_variant PRAD-UK 8 59544791 59544791 single base substitution C A intron_variant PRAD-UK 8 59548805 59548805 single base substitution C G intron_variant PRAD-UK 8 59549708 59549708 single base substitution C G intron_variant PRAD-UK 8 59575299 59575299 single base substitution C A upstream_gene_variant PRAD-US 8 59515931 59515931 single base substitution C T exon_variant PRAD-US 8 59515931 59515931 single base substitution C T missense_variant E295K 883G>A PRAD-US 8 59515931 59515931 single base substitution C T missense_variant E326K 976G>A PRAD-US 8 59515931 59515931 single base substitution C T upstream_gene_variant READ-US 8 59496725 59496725 single base substitution A G downstream_gene_variant READ-US 8 59496725 59496725 single base substitution A G exon_variant READ-US 8 59496725 59496725 single base substitution A G synonymous_variant C898C 2694T>C READ-US 8 59496725 59496725 single base substitution A G synonymous_variant C929C 2787T>C READ-US 8 59500199 59500199 single base substitution G A downstream_gene_variant READ-US 8 59500199 59500199 single base substitution G A exon_variant READ-US 8 59500199 59500199 single base substitution G A missense_variant A758V 2273C>T READ-US 8 59500199 59500199 single base substitution G A missense_variant A789V 2366C>T READ-US 8 59500199 59500199 single base substitution G A upstream_gene_variant READ-US 8 59512336 59512336 single base substitution C T downstream_gene_variant READ-US 8 59512336 59512336 single base substitution C T exon_variant READ-US 8 59512336 59512336 single base substitution C T missense_variant D476N 1426G>A READ-US 8 59512336 59512336 single base substitution C T missense_variant D507N 1519G>A READ-US 8 59512336 59512336 single base substitution C T upstream_gene_variant READ-US 8 59512578 59512578 single base substitution A G downstream_gene_variant READ-US 8 59512578 59512578 single base substitution A G exon_variant READ-US 8 59512578 59512578 single base substitution A G missense_variant I428T 1283T>C READ-US 8 59512578 59512578 single base substitution A G missense_variant I459T 1376T>C READ-US 8 59512578 59512578 single base substitution A G splice_region_variant READ-US 8 59512578 59512578 single base substitution A G upstream_gene_variant READ-US 8 59518568 59518568 single base substitution A G exon_variant READ-US 8 59518568 59518568 single base substitution A G synonymous_variant D262D 786T>C READ-US 8 59518568 59518568 single base substitution A G synonymous_variant D293D 879T>C READ-US 8 59571856 59571856 single base substitution A C intron_variant READ-US 8 59571856 59571856 single base substitution A C missense_variant I17S 50T>G READ-US 8 59571856 59571856 single base substitution A C upstream_gene_variant RECA-EU 8 59499831 59499831 single base substitution A G downstream_gene_variant RECA-EU 8 59499831 59499831 single base substitution A G intron_variant RECA-EU 8 59499831 59499831 single base substitution A G upstream_gene_variant RECA-EU 8 59505328 59505328 single base substitution C G downstream_gene_variant RECA-EU 8 59505328 59505328 single base substitution C G intron_variant RECA-EU 8 59505328 59505328 single base substitution C G upstream_gene_variant RECA-EU 8 59505479 59505479 single base substitution A T downstream_gene_variant RECA-EU 8 59505479 59505479 single base substitution A T intron_variant RECA-EU 8 59505479 59505479 single base substitution A T upstream_gene_variant RECA-EU 8 59506022 59506022 single base substitution A G downstream_gene_variant RECA-EU 8 59506022 59506022 single base substitution A G intron_variant RECA-EU 8 59506022 59506022 single base substitution A G upstream_gene_variant RECA-EU 8 59506070 59506070 single base substitution C T downstream_gene_variant RECA-EU 8 59506070 59506070 single base substitution C T intron_variant RECA-EU 8 59506070 59506070 single base substitution C T upstream_gene_variant RECA-EU 8 59506430 59506430 single base substitution G A downstream_gene_variant RECA-EU 8 59506430 59506430 single base substitution G A intron_variant RECA-EU 8 59506430 59506430 single base substitution G A upstream_gene_variant RECA-EU 8 59516043 59516043 single base substitution G C intron_variant RECA-EU 8 59516043 59516043 single base substitution G C upstream_gene_variant RECA-EU 8 59528361 59528361 single base substitution A C intron_variant RECA-EU 8 59537979 59537979 single base substitution A G intron_variant RECA-EU 8 59537979 59537979 single base substitution A G upstream_gene_variant RECA-EU 8 59537985 59537985 single base substitution G A intron_variant RECA-EU 8 59537985 59537985 single base substitution G A upstream_gene_variant RECA-EU 8 59545144 59545144 single base substitution C G intron_variant RECA-EU 8 59562594 59562594 single base substitution T A intron_variant SKCA-BR 8 59491799 59491800 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 8 59493128 59493129 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 8 59494439 59494439 single base substitution A G downstream_gene_variant SKCA-BR 8 59495119 59495119 single base substitution G A downstream_gene_variant SKCA-BR 8 59498190 59498190 single base substitution G A downstream_gene_variant SKCA-BR 8 59498190 59498190 single base substitution G A intron_variant SKCA-BR 8 59506990 59506990 single base substitution A C downstream_gene_variant SKCA-BR 8 59506990 59506990 single base substitution A C exon_variant SKCA-BR 8 59506990 59506990 single base substitution A C intron_variant SKCA-BR 8 59506990 59506990 single base substitution A C upstream_gene_variant SKCA-BR 8 59511231 59511231 single base substitution C T downstream_gene_variant SKCA-BR 8 59511231 59511231 single base substitution C T intron_variant SKCA-BR 8 59511231 59511231 single base substitution C T upstream_gene_variant SKCA-BR 8 59512966 59512966 single base substitution G A downstream_gene_variant SKCA-BR 8 59512966 59512966 single base substitution G A intron_variant SKCA-BR 8 59512966 59512966 single base substitution G A upstream_gene_variant SKCA-BR 8 59513551 59513551 single base substitution C A downstream_gene_variant SKCA-BR 8 59513551 59513551 single base substitution C A intron_variant SKCA-BR 8 59513551 59513551 single base substitution C A upstream_gene_variant SKCA-BR 8 59518202 59518202 single base substitution C T intron_variant SKCA-BR 8 59520901 59520901 single base substitution C T intron_variant SKCA-BR 8 59524238 59524238 single base substitution G A intron_variant SKCA-BR 8 59529628 59529628 single base substitution C A intron_variant SKCA-BR 8 59532707 59532707 single base substitution G T downstream_gene_variant SKCA-BR 8 59532707 59532707 single base substitution G T intron_variant SKCA-BR 8 59535859 59535859 insertion of <=200bp - ACG downstream_gene_variant SKCA-BR 8 59535859 59535859 insertion of <=200bp - ACG intron_variant SKCA-BR 8 59536188 59536188 insertion of <=200bp - GT downstream_gene_variant SKCA-BR 8 59536188 59536188 insertion of <=200bp - GT intron_variant SKCA-BR 8 59536188 59536188 insertion of <=200bp - GT upstream_gene_variant SKCA-BR 8 59537953 59537953 insertion of <=200bp - ATATATATGTATGTATGTATG intron_variant SKCA-BR 8 59537953 59537953 insertion of <=200bp - ATATATATGTATGTATGTATG upstream_gene_variant SKCA-BR 8 59539584 59539584 single base substitution C A downstream_gene_variant SKCA-BR 8 59539584 59539584 single base substitution C A intron_variant SKCA-BR 8 59539584 59539584 single base substitution C A upstream_gene_variant SKCA-BR 8 59546881 59546881 single base substitution C T intron_variant SKCA-BR 8 59551859 59551859 single base substitution G A intron_variant SKCA-BR 8 59557672 59557672 insertion of <=200bp - TA intron_variant SKCA-BR 8 59557688 59557689 deletion of <=200bp AG - intron_variant SKCA-BR 8 59557689 59557689 single base substitution G A intron_variant SKCA-BR 8 59568466 59568466 insertion of <=200bp - TA intron_variant SKCA-BR 8 59571287 59571287 single base substitution C T intron_variant SKCA-BR 8 59572294 59572294 single base substitution G A 5_prime_UTR_variant SKCA-BR 8 59572294 59572294 single base substitution G A upstream_gene_variant SKCA-BR 8 59572770 59572770 single base substitution C T upstream_gene_variant SKCA-BR 8 59573696 59573696 single base substitution A T upstream_gene_variant SKCA-BR 8 59576426 59576426 single base substitution C T upstream_gene_variant SKCM-US 8 59492257 59492257 single base substitution A G downstream_gene_variant SKCM-US 8 59499059 59499059 single base substitution G A downstream_gene_variant SKCM-US 8 59499059 59499059 single base substitution G A exon_variant SKCM-US 8 59499059 59499059 single base substitution G A missense_variant P802S 2404C>T SKCM-US 8 59499059 59499059 single base substitution G A missense_variant P833S 2497C>T SKCM-US 8 59508133 59508133 single base substitution A G downstream_gene_variant SKCM-US 8 59508133 59508133 single base substitution A G exon_variant SKCM-US 8 59508133 59508133 single base substitution A G synonymous_variant Y626Y 1878T>C SKCM-US 8 59508133 59508133 single base substitution A G synonymous_variant Y657Y 1971T>C SKCM-US 8 59508133 59508133 single base substitution A G upstream_gene_variant SKCM-US 8 59509987 59509987 single base substitution G A downstream_gene_variant SKCM-US 8 59509987 59509987 single base substitution G A exon_variant SKCM-US 8 59509987 59509987 single base substitution G A missense_variant S584F 1751C>T SKCM-US 8 59509987 59509987 single base substitution G A missense_variant S615F 1844C>T SKCM-US 8 59509987 59509987 single base substitution G A upstream_gene_variant SKCM-US 8 59511825 59511825 single base substitution T C downstream_gene_variant SKCM-US 8 59511825 59511825 single base substitution T C exon_variant SKCM-US 8 59511825 59511825 single base substitution T C synonymous_variant K517K 1551A>G SKCM-US 8 59511825 59511825 single base substitution T C synonymous_variant K548K 1644A>G SKCM-US 8 59511825 59511825 single base substitution T C upstream_gene_variant SKCM-US 8 59512321 59512321 single base substitution G A downstream_gene_variant SKCM-US 8 59512321 59512321 single base substitution G A exon_variant SKCM-US 8 59512321 59512321 single base substitution G A missense_variant P481S 1441C>T SKCM-US 8 59512321 59512321 single base substitution G A missense_variant P512S 1534C>T SKCM-US 8 59512321 59512321 single base substitution G A upstream_gene_variant SKCM-US 8 59512394 59512394 single base substitution A C downstream_gene_variant SKCM-US 8 59512394 59512394 single base substitution A C exon_variant SKCM-US 8 59512394 59512394 single base substitution A C missense_variant F456L 1368T>G SKCM-US 8 59512394 59512394 single base substitution A C missense_variant F487L 1461T>G SKCM-US 8 59512394 59512394 single base substitution A C upstream_gene_variant SKCM-US 8 59515881 59515881 single base substitution G A exon_variant SKCM-US 8 59515881 59515881 single base substitution G A synonymous_variant S311S 933C>T SKCM-US 8 59515881 59515881 single base substitution G A synonymous_variant S342S 1026C>T SKCM-US 8 59515881 59515881 single base substitution G A upstream_gene_variant SKCM-US 8 59515917 59515917 single base substitution C T exon_variant SKCM-US 8 59515917 59515917 single base substitution C T synonymous_variant E299E 897G>A SKCM-US 8 59515917 59515917 single base substitution C T synonymous_variant E330E 990G>A SKCM-US 8 59515917 59515917 single base substitution C T upstream_gene_variant SKCM-US 8 59536305 59536305 single base substitution G A downstream_gene_variant SKCM-US 8 59536305 59536305 single base substitution G A missense_variant P140L 419C>T SKCM-US 8 59536305 59536305 single base substitution G A missense_variant P171L 512C>T SKCM-US 8 59536305 59536305 single base substitution G A upstream_gene_variant SKCM-US 8 59547754 59547754 single base substitution G A 3_prime_UTR_variant SKCM-US 8 59547754 59547754 single base substitution G A exon_variant SKCM-US 8 59547754 59547754 single base substitution G A synonymous_variant F109F 327C>T SKCM-US 8 59547754 59547754 single base substitution G A synonymous_variant F140F 420C>T SKCM-US 8 59548091 59548091 single base substitution G A 3_prime_UTR_variant SKCM-US 8 59548091 59548091 single base substitution G A exon_variant SKCM-US 8 59548091 59548091 single base substitution G A missense_variant S55F 164C>T SKCM-US 8 59548091 59548091 single base substitution G A missense_variant S86F 257C>T STAD-US 8 59492251 59492251 deletion of <=200bp A - downstream_gene_variant STAD-US 8 59493089 59493089 single base substitution C T downstream_gene_variant STAD-US 8 59498296 59498296 single base substitution G A downstream_gene_variant STAD-US 8 59498296 59498296 single base substitution G A exon_variant STAD-US 8 59498296 59498296 single base substitution G A synonymous_variant S858S 2574C>T STAD-US 8 59498296 59498296 single base substitution G A synonymous_variant S889S 2667C>T STAD-US 8 59502072 59502072 single base substitution A G downstream_gene_variant STAD-US 8 59502072 59502072 single base substitution A G exon_variant STAD-US 8 59502072 59502072 single base substitution A G missense_variant V717A 2150T>C STAD-US 8 59502072 59502072 single base substitution A G missense_variant V748A 2243T>C STAD-US 8 59502072 59502072 single base substitution A G upstream_gene_variant STAD-US 8 59502099 59502099 single base substitution T C downstream_gene_variant STAD-US 8 59502099 59502099 single base substitution T C exon_variant STAD-US 8 59502099 59502099 single base substitution T C missense_variant D708G 2123A>G STAD-US 8 59502099 59502099 single base substitution T C missense_variant D739G 2216A>G STAD-US 8 59502099 59502099 single base substitution T C upstream_gene_variant STAD-US 8 59502106 59502106 single base substitution G A downstream_gene_variant STAD-US 8 59502106 59502106 single base substitution G A exon_variant STAD-US 8 59502106 59502106 single base substitution G A missense_variant R706C 2116C>T STAD-US 8 59502106 59502106 single base substitution G A missense_variant R737C 2209C>T STAD-US 8 59502106 59502106 single base substitution G A upstream_gene_variant STAD-US 8 59506822 59506822 single base substitution G A downstream_gene_variant STAD-US 8 59506822 59506822 single base substitution G A exon_variant STAD-US 8 59506822 59506822 single base substitution G A synonymous_variant R640R 1920C>T STAD-US 8 59506822 59506822 single base substitution G A synonymous_variant R671R 2013C>T STAD-US 8 59506822 59506822 single base substitution G A upstream_gene_variant STAD-US 8 59510450 59510450 single base substitution G T downstream_gene_variant STAD-US 8 59510450 59510450 single base substitution G T exon_variant STAD-US 8 59510450 59510450 single base substitution G T missense_variant L533M 1597C>A STAD-US 8 59510450 59510450 single base substitution G T missense_variant L564M 1690C>A STAD-US 8 59510450 59510450 single base substitution G T upstream_gene_variant STAD-US 8 59512542 59512542 single base substitution G A downstream_gene_variant STAD-US 8 59512542 59512542 single base substitution G A exon_variant STAD-US 8 59512542 59512542 single base substitution G A missense_variant T440M 1319C>T STAD-US 8 59512542 59512542 single base substitution G A missense_variant T471M 1412C>T STAD-US 8 59512542 59512542 single base substitution G A upstream_gene_variant STAD-US 8 59515915 59515915 single base substitution C T exon_variant STAD-US 8 59515915 59515915 single base substitution C T missense_variant S300N 899G>A STAD-US 8 59515915 59515915 single base substitution C T missense_variant S331N 992G>A STAD-US 8 59515915 59515915 single base substitution C T upstream_gene_variant STAD-US 8 59520362 59520362 single base substitution C T exon_variant STAD-US 8 59520362 59520362 single base substitution C T missense_variant R242H 725G>A STAD-US 8 59520362 59520362 single base substitution C T missense_variant R273H 818G>A STAD-US 8 59522202 59522202 single base substitution C T exon_variant STAD-US 8 59522202 59522202 single base substitution C T synonymous_variant T216T 648G>A STAD-US 8 59522202 59522202 single base substitution C T synonymous_variant T247T 741G>A STAD-US 8 59535981 59535981 single base substitution A T downstream_gene_variant STAD-US 8 59535981 59535981 single base substitution A T splice_region_variant STAD-US 8 59535981 59535981 single base substitution A T upstream_gene_variant STAD-US 8 59548042 59548042 single base substitution G A 3_prime_UTR_variant STAD-US 8 59548042 59548042 single base substitution G A exon_variant STAD-US 8 59548042 59548042 single base substitution G A synonymous_variant S102S 306C>T STAD-US 8 59548042 59548042 single base substitution G A synonymous_variant S71S 213C>T STAD-US 8 59548060 59548060 insertion of <=200bp - A 3_prime_UTR_variant STAD-US 8 59548060 59548060 insertion of <=200bp - A exon_variant STAD-US 8 59548060 59548060 insertion of <=200bp - A frameshift_variant F65F? STAD-US 8 59548060 59548060 insertion of <=200bp - A frameshift_variant F96F? STAD-US 8 59555553 59555553 single base substitution G A exon_variant STAD-US 8 59555553 59555553 single base substitution G A missense_variant H47Y 139C>T STAD-US 8 59555553 59555553 single base substitution G A missense_variant H78Y 232C>T THCA-SA 8 59496416 59496416 single base substitution C T 3_prime_UTR_variant THCA-SA 8 59496416 59496416 single base substitution C T downstream_gene_variant THCA-SA 8 59496416 59496416 single base substitution C T exon_variant THCA-SA 8 59496490 59496490 single base substitution A G 3_prime_UTR_variant THCA-SA 8 59496490 59496490 single base substitution A G downstream_gene_variant THCA-SA 8 59496490 59496490 single base substitution A G exon_variant THCA-US 8 59511805 59511805 single base substitution A C downstream_gene_variant THCA-US 8 59511805 59511805 single base substitution A C exon_variant THCA-US 8 59511805 59511805 single base substitution A C missense_variant V524G 1571T>G THCA-US 8 59511805 59511805 single base substitution A C missense_variant V555G 1664T>G THCA-US 8 59511805 59511805 single base substitution A C upstream_gene_variant UCEC-US 8 59492280 59492280 single base substitution C A downstream_gene_variant UCEC-US 8 59496667 59496667 single base substitution A G downstream_gene_variant UCEC-US 8 59496667 59496667 single base substitution A G exon_variant UCEC-US 8 59496667 59496667 single base substitution A G stop_lost *918Q 2752T>C UCEC-US 8 59496667 59496667 single base substitution A G stop_lost *949Q 2845T>C UCEC-US 8 59500239 59500239 single base substitution C A downstream_gene_variant UCEC-US 8 59500239 59500239 single base substitution C A exon_variant UCEC-US 8 59500239 59500239 single base substitution C A stop_gained E745* 2233G>T UCEC-US 8 59500239 59500239 single base substitution C A stop_gained E776* 2326G>T UCEC-US 8 59500239 59500239 single base substitution C A upstream_gene_variant UCEC-US 8 59502600 59502600 single base substitution C T downstream_gene_variant UCEC-US 8 59502600 59502600 single base substitution C T exon_variant UCEC-US 8 59502600 59502600 single base substitution C T missense_variant A685T 2053G>A UCEC-US 8 59502600 59502600 single base substitution C T missense_variant A716T 2146G>A UCEC-US 8 59502600 59502600 single base substitution C T upstream_gene_variant UCEC-US 8 59511876 59511876 single base substitution A C downstream_gene_variant UCEC-US 8 59511876 59511876 single base substitution A C exon_variant UCEC-US 8 59511876 59511876 single base substitution A C missense_variant N500K 1500T>G UCEC-US 8 59511876 59511876 single base substitution A C missense_variant N531K 1593T>G UCEC-US 8 59511876 59511876 single base substitution A C upstream_gene_variant UCEC-US 8 59514643 59514643 single base substitution T G exon_variant UCEC-US 8 59514643 59514643 single base substitution T G missense_variant N367H 1099A>C UCEC-US 8 59514643 59514643 single base substitution T G missense_variant N398H 1192A>C UCEC-US 8 59514643 59514643 single base substitution T G upstream_gene_variant UCEC-US 8 59515852 59515852 single base substitution T C exon_variant UCEC-US 8 59515852 59515852 single base substitution T C missense_variant N321S 962A>G UCEC-US 8 59515852 59515852 single base substitution T C missense_variant N352S 1055A>G UCEC-US 8 59515852 59515852 single base substitution T C upstream_gene_variant UCEC-US 8 59520366 59520366 single base substitution G A exon_variant UCEC-US 8 59520366 59520366 single base substitution G A missense_variant R241C 721C>T UCEC-US 8 59520366 59520366 single base substitution G A missense_variant R272C 814C>T UCEC-US 8 59522169 59522169 single base substitution G C exon_variant UCEC-US 8 59522169 59522169 single base substitution G C synonymous_variant G227G 681C>G UCEC-US 8 59522169 59522169 single base substitution G C synonymous_variant G258G 774C>G UCEC-US 8 59522239 59522239 single base substitution G A exon_variant UCEC-US 8 59522239 59522239 single base substitution G A missense_variant T204M 611C>T UCEC-US 8 59522239 59522239 single base substitution G A missense_variant T235M 704C>T UCEC-US 8 59522249 59522249 single base substitution C A exon_variant UCEC-US 8 59522249 59522249 single base substitution C A stop_gained E201* 601G>T UCEC-US 8 59522249 59522249 single base substitution C A stop_gained E232* 694G>T UCEC-US 8 59522267 59522267 single base substitution G A exon_variant UCEC-US 8 59522267 59522267 single base substitution G A missense_variant H195Y 583C>T UCEC-US 8 59522267 59522267 single base substitution G A missense_variant H226Y 676C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SNUH_G16_S1 COSM3685400 c.2550G>T p.R850S Substitution - Missense 8:58585761-58585761 - TCGA-D1-A177-01 COSM1155008 c.2326G>T p.E776* Substitution - Nonsense 8:58587680-58587680 - TCGA-34-5231-01 COSM1151136 c.1271C>G p.S424C Substitution - Missense 8:58601483-58601483 - UM-SCC-4 COSM454713 c.50T>G p.I17S Substitution - Missense 8:58659297-58659297 - TCGA-DI-A0WH-01 COSM1155006 c.2516T>C p.V839A Substitution - Missense 8:58586481-58586481 - RK025_C01 COSM1635832 c.2277G>T p.E759D Substitution - Missense 8:58587636-58587636 - TCGA-06-0939-01 COSM2152432 c.278C>T p.S93L Substitution - Missense 8:58635511-58635511 - TCGA-MU-A5YI-01 COSM4855392 c.1473G>T p.Q491H Substitution - Missense 8:58599344-58599344 - SJLGG010 COSM1716228 c.2701G>A p.V901I Substitution - Missense 8:58585703-58585703 - TCGA-EE-A29R-06 COSM2719856 c.327C>T p.F109F Substitution - coding silent 8:58635195-58635195 - BHY COSM454713 c.50T>G p.I17S Substitution - Missense 8:58659297-58659297 - TCGA-EK-A2R8-01 COSM4822608 c.377G>C p.R126T Substitution - Missense 8:58635317-58635317 - 722_T COSM3951744 c.1494G>C p.K498N Substitution - Missense 8:58599802-58599802 - TCGA-18-3419-01 COSM1151137 c.1143G>T p.L381F Substitution - Missense 8:58602133-58602133 - I2L-P24Ta-Tumor-Biopsy COSM1597740 c.814C>T p.R272C Substitution - Missense 8:58607807-58607807 - RK025_C COSM1635831 c.2370G>T p.E790D Substitution - Missense 8:58587636-58587636 - TCGA-EE-A3AA-06 COSM3650042 c.419C>T p.P140L Substitution - Missense 8:58623746-58623746 - PR-01-2554 COSM246119 c.1702T>G p.F568V Substitution - Missense 8:58597477-58597477 - 8044826 COSM1158171 c.2450G>A p.S817N Substitution - Missense 8:58585997-58585997 - SNUH_G16_S1 COSM3685399 c.2643G>T p.R881S Substitution - Missense 8:58585761-58585761 - NPC15F COSM313376 c.725G>A p.R242H Substitution - Missense 8:58607803-58607803 - TCGA-B5-A11G-01 COSM1597740 c.814C>T p.R272C Substitution - Missense 8:58607807-58607807 - TCGA-EE-A29E-06 COSM3650044 c.164C>T p.S55F Substitution - Missense 8:58635532-58635532 - TCGA-B0-5713-01 COSM486555 c.1951+1G>C p.? Unknown 8:58594231-58594231 - EGC3 COSM1457656 c.591C>T p.T197T Substitution - coding silent 8:58623383-58623383 - SNUH_G64_S1 COSM3685399 c.2643G>T p.R881S Substitution - Missense 8:58585761-58585761 - SNUH_G33_S1 COSM3685401 c.2643G>A p.R881R Substitution - coding silent 8:58585761-58585761 - SNUH_G25_S1 COSM3685400 c.2550G>T p.R850S Substitution - Missense 8:58585761-58585761 - PT36 COSM5915796 c.1880C>T p.S627F Substitution - Missense 8:58597392-58597392 - TCGA-A3-3346-01 COSM1496875 c.1948C>T p.Q650* Substitution - Nonsense 8:58594235-58594235 - TCGA-GV-A3JX-01 COSM1314125 c.667C>T p.Q223* Substitution - Nonsense 8:58609624-58609624 - Gp2D COSM2719776 c.2152G>A p.V718I Substitution - Missense 8:58590035-58590035 - T3152 COSM4524534 c.1278G>A p.P426P Substitution - coding silent 8:58601476-58601476 - DLD1 COSM2719813 c.1413G>A p.T471T Substitution - coding silent 8:58599982-58599982 - 268T COSM1727284 c.1499A>C p.N500T Substitution - Missense 8:58599318-58599318 - SNUH_G15_S1 COSM3685400 c.2550G>T p.R850S Substitution - Missense 8:58585761-58585761 - BD72T COSM5512488 c.1223G>A p.R408H Substitution - Missense 8:58601531-58601531 - TCGA-BM-6198-01 COSM3432488 c.879T>C p.D293D Substitution - coding silent 8:58606009-58606009 - CRC-09T COSM5452921 c.1459G>A p.E487K Substitution - Missense 8:58599358-58599358 - ESO-632 COSM1259606 c.355C>T p.H119Y Substitution - Missense 8:58635339-58635339 - B66-Tumor COSM1755763 c.990C>G p.L330L Substitution - coding silent 8:58603265-58603265 - Gp5D COSM2719777 c.2059G>A p.V687I Substitution - Missense 8:58590035-58590035 - TCGA-CG-5728-01 COSM2719816 c.1319C>T p.T440M Substitution - Missense 8:58599983-58599983 - PD6415a COSM5774700 c.1418T>C p.M473T Substitution - Missense 8:58599785-58599785 - TCGA-G4-6628-01 COSM1457658 c.403G>T p.G135C Substitution - Missense 8:58635212-58635212 - TCGA-DC-6682-01 COSM1569596 c.2366C>T p.A789V Substitution - Missense 8:58587640-58587640 - LUAD-S00484 COSM343143 c.1574G>T p.G525V Substitution - Missense 8:58599243-58599243 - 19 COSM5746871 c.2794A>G p.I932V Substitution - Missense 8:58584159-58584159 - 26 COSM5748674 c.1067G>A p.R356H Substitution - Missense 8:58603281-58603281 - SNUH_G34_S1 COSM3685402 c.2550G>A p.R850R Substitution - coding silent 8:58585761-58585761 - TCGA-AG-3731-01 COSM3432487 c.1283T>C p.I428T Substitution - Missense 8:58600019-58600019 - 824_T COSM3951747 c.442G>T p.E148* Substitution - Nonsense 8:58623723-58623723 - TCGA-EE-A29E-06 COSM3650043 c.257C>T p.S86F Substitution - Missense 8:58635532-58635532 - TCGA-DM-A28H-01 COSM1457651 c.1383G>A p.L461L Substitution - coding silent 8:58599820-58599820 - TCGA-AX-A0J1-01 COSM1100733 c.962A>G p.N321S Substitution - Missense 8:58603293-58603293 - TCGA-AA-A00N-01 COSM276404 c.261G>A p.K87K Substitution - coding silent 8:58635340-58635340 - TCGA-B8-5164-01 COSM1137889 c.1219-2A>G p.? Unknown 8:58601537-58601537 - TCGA-D5-6535-01 COSM1457643 c.1842G>A p.W614* Substitution - Nonsense 8:58595610-58595610 - pfg008T COSM1643617 c.1374-10delT p.? Unknown 8:58600031-58600031 - TCGA-B5-A11G-01 COSM1100734 c.721C>T p.R241C Substitution - Missense 8:58607807-58607807 - TCGA-G4-6628-01 COSM1457640 c.2344delA p.R782fs*16 Deletion - Frameshift 8:58587662-58587662 - SNUH_G31_S1 COSM3685400 c.2550G>T p.R850S Substitution - Missense 8:58585761-58585761 - C608 COSM2719815 c.1412C>T p.T471M Substitution - Missense 8:58599983-58599983 - BD72T COSM5512486 c.2433C>T p.S811S Substitution - coding silent 8:58586564-58586564 - 1_RESISTANT COSM1719718 c.1217-2A>T p.? Unknown 8:58601350-58601350 - TCGA-D1-A177-01 COSM1100728 c.2233G>T p.E745* Substitution - Nonsense 8:58587680-58587680 - ESOSCC155T COSM1173416 c.1450G>C p.D484H Substitution - Missense 8:58599846-58599846 - ESCC_32 COSM5628156 c.398C>T p.S133F Substitution - Missense 8:58635217-58635217 - B80-5-Tumor COSM1755760 c.2796C>G p.I932M Substitution - Missense 8:58584157-58584157 - 400 COSM4429524 c.1783G>C p.D595H Substitution - Missense 8:58597396-58597396 - TCGA-CD-8528-01 COSM3900829 c.459T>A p.L153L Substitution - coding silent 8:58623422-58623422 - pfg122T COSM4756169 c.280G>A p.V94M Substitution - Missense 8:58635509-58635509 - TCGA-B7-5816-01 COSM2719868 c.213C>T p.S71S Substitution - coding silent 8:58635483-58635483 - Pat_26_A COSM5874855 c.1795G>A p.E599K Substitution - Missense 8:58595657-58595657 - SNUH_G33_S1 COSM3685402 c.2550G>A p.R850R Substitution - coding silent 8:58585761-58585761 - Pat_26_A COSM5874854 c.1888G>A p.E630K Substitution - Missense 8:58595657-58595657 - 61 COSM5738345 c.650G>A p.R217K Substitution - Missense 8:58623220-58623220 - PACA46 COSM1158171 c.2450G>A p.S817N Substitution - Missense 8:58585997-58585997 - ME009T COSM223266 c.1789C>T p.P597S Substitution - Missense 8:58597390-58597390 - TCGA-43-6770-01 COSM751103 c.2087T>C p.V696A Substitution - Missense 8:58590007-58590007 - Gp5D COSM2719776 c.2152G>A p.V718I Substitution - Missense 8:58590035-58590035 - TCGA-06-0939 COSM2152433 c.185C>T p.S62L Substitution - Missense 8:58635511-58635511 - TCGA-H2-A421-01 COSM3374961 c.1664T>G p.V555G Substitution - Missense 8:58599246-58599246 - BD72T COSM5512487 c.2340C>T p.S780S Substitution - coding silent 8:58586564-58586564 - MINO COSM1739504 c.2098T>A p.S700T Substitution - Missense 8:58590881-58590881 - BK0043 COSM4187467 c.2618T>A p.L873H Substitution - Missense 8:58585693-58585693 - SH-0622 COSM5018335 c.1790delC p.P597fs*9 Deletion - Frameshift 8:58597389-58597389 - 174-01-3TD COSM5417122 c.757C>T p.L253L Substitution - coding silent 8:58607771-58607771 - TCGA-GC-A3YS-01 COSM3779294 c.1986-1G>C p.? Unknown 8:58594291-58594291 - TCGA-H2-A421-01 COSM3374962 c.1571T>G p.V524G Substitution - Missense 8:58599246-58599246 - TCGA-F5-6814-01 COSM3432483 c.2694T>C p.C898C Substitution - coding silent 8:58584166-58584166 - TCGA-A4-8515-01 COSM3996092 c.2720C>A p.A907E Substitution - Missense 8:58585684-58585684 - TCGA-AG-3896-01 COSM288891 c.804C>A p.I268I Substitution - coding silent 8:58605991-58605991 - sysucc-1397T COSM5475189 c.52C>T p.R18W Substitution - Missense 8:58659295-58659295 - T388 COSM4708373 c.1307T>C p.L436P Substitution - Missense 8:58599995-58599995 - TCGA-B8-5164-01 COSM486557 c.1126-2A>G p.? Unknown 8:58601537-58601537 - TCGA-G4-6628-01 COSM1457641 c.2251delA p.R751fs*16 Deletion - Frameshift 8:58587662-58587662 - LS411 COSM2719802 c.1665G>T p.T555T Substitution - coding silent 8:58597514-58597514 - T55 COSM4708370 c.2534G>A p.S845N Substitution - Missense 8:58586463-58586463 - 61 COSM5738346 c.557G>A p.R186K Substitution - Missense 8:58623220-58623220 - TCGA-22-5473-01 COSM751100 c.1701A>G p.L567L Substitution - coding silent 8:58597478-58597478 - 824_T COSM3951746 c.535G>T p.E179* Substitution - Nonsense 8:58623723-58623723 - TCGA-UB-A7MB-01 COSM4931218 c.2583T>C p.N861N Substitution - coding silent 8:58585957-58585957 - T55 COSM4708371 c.2441G>A p.S814N Substitution - Missense 8:58586463-58586463 - TCGA-CG-5728-01 COSM2719815 c.1412C>T p.T471M Substitution - Missense 8:58599983-58599983 - TCGA-B5-A0JY-01 COSM1100738 c.583C>T p.H195Y Substitution - Missense 8:58609708-58609708 - TCGA-33-4532-01 COSM751102 c.1947C>T p.S649S Substitution - coding silent 8:58594236-58594236 - TCGA-B0-4707-01 COSM3367381 c.1073G>A p.C358Y Substitution - Missense 8:58603275-58603275 - TCGA-CM-4743-01 COSM1457638 c.2546G>A p.R849H Substitution - Missense 8:58585994-58585994 - ESCC_13 COSM5625366 c.1591C>T p.H531Y Substitution - Missense 8:58597897-58597897 - TCGA-HU-A4G9-01 COSM3900823 c.1597C>A p.L533M Substitution - Missense 8:58597891-58597891 - TCGA-BR-4362-01 COSM2719774 c.2209C>T p.R737C Substitution - Missense 8:58589547-58589547 - TCGA-EE-A3AD-06 COSM3650037 c.1026C>T p.S342S Substitution - coding silent 8:58603322-58603322 - TCGA-D5-6537-01 COSM1457654 c.763C>A p.P255T Substitution - Missense 8:58609621-58609621 - TCGA-33-4532-01 COSM1151132 c.2040C>T p.S680S Substitution - coding silent 8:58594236-58594236 - SNUH_G15_S1 COSM3685399 c.2643G>T p.R881S Substitution - Missense 8:58585761-58585761 - HX27T COSM3663815 c.2707G>A p.D903N Substitution - Missense 8:58585697-58585697 - ESCC_13 COSM5625365 c.1684C>T p.H562Y Substitution - Missense 8:58597897-58597897 - TCGA-CM-4743-01 COSM1457639 c.2453G>A p.R818H Substitution - Missense 8:58585994-58585994 - TCGA-DK-A1AC-01 COSM1314127 c.100G>T p.E34* Substitution - Nonsense 8:58643033-58643033 - TCGA-39-5039-01 COSM751096 c.1036T>C p.S346P Substitution - Missense 8:58603219-58603219 - TCGA-AX-A0J1-01 COSM1597741 c.1055A>G p.N352S Substitution - Missense 8:58603293-58603293 - SNUH_G19_S1 COSM3685399 c.2643G>T p.R881S Substitution - Missense 8:58585761-58585761 - SNUH_G12_S1 COSM3685399 c.2643G>T p.R881S Substitution - Missense 8:58585761-58585761 - HCC058T COSM5804725 c.249A>T p.I83I Substitution - coding silent 8:58635352-58635352 - TCGA-B0-4707-01 COSM3367382 c.980G>A p.C327Y Substitution - Missense 8:58603275-58603275 - TCGA-CM-6162-01 COSM1457656 c.591C>T p.T197T Substitution - coding silent 8:58623383-58623383 - SNUH_G13_S1 COSM3685400 c.2550G>T p.R850S Substitution - Missense 8:58585761-58585761 - 587376 COSM1217952 c.658A>C p.N220H Substitution - Missense 8:58609726-58609726 - TCGA-22-5473-01 COSM1151134 c.1794A>G p.L598L Substitution - coding silent 8:58597478-58597478 - CSCC-20-T COSM4367701 c.1339C>T p.P447S Substitution - Missense 8:58599864-58599864 - TCGA-CD-8528-01 COSM3900828 c.552T>A p.L184L Substitution - coding silent 8:58623422-58623422 - TCGA-B5-A0JY-01 COSM1597737 c.676C>T p.H226Y Substitution - Missense 8:58609708-58609708 - TCGA-BG-A0LX-01 COSM1155009 c.2146G>A p.A716T Substitution - Missense 8:58590041-58590041 - HCT8 COSM2719814 c.1320G>A p.T440T Substitution - coding silent 8:58599982-58599982 - SH-0622 COSM5018336 c.1690delC p.L564fs*1 Deletion - Frameshift 8:58597891-58597891 - TCGA-HU-A4GX-01 COSM2719841 c.818G>A p.R273H Substitution - Missense 8:58607803-58607803 - TCGA-AY-6386-01 COSM454713 c.50T>G p.I17S Substitution - Missense 8:58659297-58659297 - CSCC-7-T COSM4449670 c.297-1G>A p.? Unknown 8:58635226-58635226 - TCGA-EE-A2MT-06 COSM3650025 c.1971T>C p.Y657Y Substitution - coding silent 8:58595574-58595574 - HX28T COSM1624104 c.2388C>G p.T796T Substitution - coding silent 8:58586516-58586516 - BN44T COSM3663818 c.1812C>T p.D604D Substitution - coding silent 8:58595640-58595640 - B66-Tumor COSM1755762 c.1083C>G p.L361L Substitution - coding silent 8:58603265-58603265 - TCGA-EE-A3AA-06 COSM3650041 c.512C>T p.P171L Substitution - Missense 8:58623746-58623746 - TCGA-AM-5820-01 COSM3699123 c.1279G>A p.G427S Substitution - Missense 8:58601475-58601475 - TCGA-D1-A101-01 COSM1155007 c.2414C>T p.A805V Substitution - Missense 8:58586583-58586583 - TCGA-BR-6452-01 COSM3900820 c.2013C>T p.R671R Substitution - coding silent 8:58594263-58594263 - B80-5-Tumor COSM1755761 c.2703C>G p.I901M Substitution - Missense 8:58584157-58584157 - LC_C18 COSM1190800 c.1155delA p.T386fs*9 Deletion - Frameshift 8:58602121-58602121 - EOPC-057_tumor_01 COSM5950986 c.1887C>T p.H629H Substitution - coding silent 8:58595565-58595565 - Gp2D COSM2719777 c.2059G>A p.V687I Substitution - Missense 8:58590035-58590035 - TCGA-EE-A29G-06 COSM3650032 c.1441C>T p.P481S Substitution - Missense 8:58599762-58599762 - TCGA-34-5231-01 COSM751098 c.1178C>G p.S393C Substitution - Missense 8:58601483-58601483 - 587222 COSM1217950 c.1915G>T p.E639* Substitution - Nonsense 8:58595630-58595630 - CSCC-16-T COSM4572297 c.608T>C p.V203A Substitution - Missense 8:58609683-58609683 - TCGA-BR-4184-01 COSM3900830 c.232C>T p.H78Y Substitution - Missense 8:58642994-58642994 - YUPAER COSM5409740 c.317C>T p.S106L Substitution - Missense 8:58635205-58635205 - CSCC-7-T COSM4449669 c.390-1G>A p.? Unknown 8:58635226-58635226 - SNUH_G09_S1 COSM3685399 c.2643G>T p.R881S Substitution - Missense 8:58585761-58585761 - 40M COSM5584520 c.12G>A p.Q4Q Substitution - coding silent 8:58659335-58659335 - TCGA-28-2513-01 COSM3413080 c.1281-1G>A p.? Unknown 8:58600022-58600022 - KPOPBR-03-T COSM5965375 c.2296-2A>G p.? Unknown 8:58586610-58586610 - TCGA-D9-A4Z6-01 COSM3650036 c.1216+1G>C p.? Unknown 8:58601444-58601444 - PAKVKK COSM1169332 c.815G>A p.R272H Substitution - Missense 8:58607806-58607806 - TCGA-BR-4362-01 COSM2719775 c.2116C>T p.R706C Substitution - Missense 8:58589547-58589547 - cSCCP1 COSM134248 c.1997G>A p.R666K Substitution - Missense 8:58590889-58590889 - HCC2998 COSM2719866 c.250A>C p.K84Q Substitution - Missense 8:58635351-58635351 - Pat_41_B COSM5874852 c.2328G>T p.E776D Substitution - Missense 8:58587678-58587678 - SJHGG034_D COSM4970496 c.891C>T p.S297S Substitution - coding silent 8:58605997-58605997 - LUAD-NYU259 COSM372028 c.1114G>T p.E372* Substitution - Nonsense 8:58602069-58602069 - TCGA-AG-4022-01 COSM454713 c.50T>G p.I17S Substitution - Missense 8:58659297-58659297 - PAKVKK COSM1169333 c.722G>A p.R241H Substitution - Missense 8:58607806-58607806 - B66 COSM1755763 c.990C>G p.L330L Substitution - coding silent 8:58603265-58603265 - T388 COSM4708372 c.1400T>C p.L467P Substitution - Missense 8:58599995-58599995 - I2L-P24Tb-Tumor-Biopsy COSM1100734 c.721C>T p.R241C Substitution - Missense 8:58607807-58607807 - S02255 COSM5680986 c.2453G>T p.R818L Substitution - Missense 8:58585994-58585994 - TCGA-D5-6537-01 COSM1457655 c.670C>A p.P224T Substitution - Missense 8:58609621-58609621 - TCGA-D1-A103-01 COSM1100725 c.2752T>C p.*918Q Nonstop extension 8:58584108-58584108 - TCGA-D5-6932-01 COSM1457648 c.1757C>G p.T586R Substitution - Missense 8:58597515-58597515 - RK025_C01 COSM1635831 c.2370G>T p.E790D Substitution - Missense 8:58587636-58587636 - CSCC-16-T COSM4470606 c.1578C>T p.A526A Substitution - coding silent 8:58599239-58599239 - TCGA-D5-6932-01 COSM1457649 c.1664C>G p.T555R Substitution - Missense 8:58597515-58597515 - DLD1 COSM2719814 c.1320G>A p.T440T Substitution - coding silent 8:58599982-58599982 - TCGA-D1-A0ZS-01 COSM1100735 c.681C>G p.G227G Substitution - coding silent 8:58609610-58609610 - 400 COSM4429523 c.1876G>C p.D626H Substitution - Missense 8:58597396-58597396 - TCGA-AP-A0LM-01 COSM1597739 c.704C>T p.T235M Substitution - Missense 8:58609680-58609680 - 587376 COSM1217953 c.565A>C p.N189H Substitution - Missense 8:58609726-58609726 - TCGA-CG-4442-01 COSM3900816 c.2243T>C p.V748A Substitution - Missense 8:58589513-58589513 - HCA7 COSM4631323 c.746G>A p.G249D Substitution - Missense 8:58607782-58607782 - SNUH_G29_S1 COSM3685399 c.2643G>T p.R881S Substitution - Missense 8:58585761-58585761 - 8044826 COSM1158170 c.2543G>A p.S848N Substitution - Missense 8:58585997-58585997 - SJLGG010 COSM1716229 c.2608G>A p.V870I Substitution - Missense 8:58585703-58585703 - SNUH_G76_S1 COSM4418820 c.1877A>G p.Y626C Substitution - Missense 8:58595575-58595575 - TCGA-MI-A75E-01 COSM4939801 c.492T>C p.Y164Y Substitution - coding silent 8:58623766-58623766 - ESO-859 COSM1239638 c.619C>T p.R207C Substitution - Missense 8:58623251-58623251 - CSCC-16-T COSM4524534 c.1278G>A p.P426P Substitution - coding silent 8:58601476-58601476 - S02245 COSM5260046 c.696G>T p.V232V Substitution - coding silent 8:58607832-58607832 - TCGA-FU-A3EO-01 COSM2719841 c.818G>A p.R273H Substitution - Missense 8:58607803-58607803 - T3152 COSM4524535 c.1185G>A p.P395P Substitution - coding silent 8:58601476-58601476 - TCGA-BR-6452-01 COSM3900824 c.992G>A p.S331N Substitution - Missense 8:58603356-58603356 - TCGA-EE-A3AB-06 COSM3650030 c.1551A>G p.K517K Substitution - coding silent 8:58599266-58599266 - BN44 COSM3663817 c.1905C>T p.D635D Substitution - coding silent 8:58595640-58595640 - TCGA-66-2766-01 COSM751099 c.1647G>A p.E549E Substitution - coding silent 8:58597532-58597532 - SNUH_G08_S1 COSM3685399 c.2643G>T p.R881S Substitution - Missense 8:58585761-58585761 - 26 COSM5748675 c.974G>A p.R325H Substitution - Missense 8:58603281-58603281 - TCGA-D3-A51G-06 COSM3650027 c.1844C>T p.S615F Substitution - Missense 8:58597428-58597428 - HCC2998 COSM2719865 c.343A>C p.K115Q Substitution - Missense 8:58635351-58635351 - I2L-P24Tb-Tumor-Organoid COSM1100734 c.721C>T p.R241C Substitution - Missense 8:58607807-58607807 - TCGA-AX-A05Z-01 COSM1597742 c.1192A>C p.N398H Substitution - Missense 8:58602084-58602084 - TCGA-EE-A29R-06 COSM2719855 c.420C>T p.F140F Substitution - coding silent 8:58635195-58635195 - TCGA-CG-5721-01 COSM3900818 c.2216A>G p.D739G Substitution - Missense 8:58589540-58589540 - CSCC-16-T COSM4524535 c.1185G>A p.P395P Substitution - coding silent 8:58601476-58601476 - TCGA-IR-A3LL-01 COSM4849730 c.826C>G p.Q276E Substitution - Missense 8:58605969-58605969 - HCT15 COSM2719813 c.1413G>A p.T471T Substitution - coding silent 8:58599982-58599982 - TCGA-CJ-5679-01 COSM1137888 c.1917A>G p.E639E Substitution - coding silent 8:58595628-58595628 - LUAD-F00018 COSM339255 c.1329A>T p.K443N Substitution - Missense 8:58599973-58599973 - TCGA-D3-A51G-06 COSM3650028 c.1751C>T p.S584F Substitution - Missense 8:58597428-58597428 - SH-0622 COSM5018334 c.1883delC p.P628fs*9 Deletion - Frameshift 8:58597389-58597389 - OSCC-GB_01010111 COSM4882341 c.1256A>C p.D419A Substitution - Missense 8:58601309-58601309 - TCGA-AX-A05Z-01 COSM1100731 c.1099A>C p.N367H Substitution - Missense 8:58602084-58602084 - Gp5D COSM2719870 c.210A>G p.I70M Substitution - Missense 8:58635486-58635486 - I2L-P24Ta-Tumor-Organoid COSM1597740 c.814C>T p.R272C Substitution - Missense 8:58607807-58607807 - TCGA-FS-A4F0-06 COSM3650033 c.1461T>G p.F487L Substitution - Missense 8:58599835-58599835 - TCGA-EE-A2MT-06 COSM3650026 c.1878T>C p.Y626Y Substitution - coding silent 8:58595574-58595574 - CRC-09T COSM5452920 c.1552G>A p.E518K Substitution - Missense 8:58599358-58599358 - TCGA-DM-A28H-01 COSM1457650 c.1476G>A p.L492L Substitution - coding silent 8:58599820-58599820 - UM-SCC-47 COSM454713 c.50T>G p.I17S Substitution - Missense 8:58659297-58659297 - TCGA-CM-6162-01 COSM1457657 c.498C>T p.T166T Substitution - coding silent 8:58623383-58623383 - TCGA-36-1574-01 COSM78205 c.1832C>T p.T611I Substitution - Missense 8:58595620-58595620 - YUDON COSM5409737 c.770A>G p.N257S Substitution - Missense 8:58609614-58609614 - Pat_05_A COSM5874857 c.1707delG p.T570fs*36 Deletion - Frameshift 8:58597472-58597472 - SNUH_G34_S1 COSM3685401 c.2643G>A p.R881R Substitution - coding silent 8:58585761-58585761 - TCGA-D1-A163-01 COSM1155010 c.1163G>A p.R388Q Substitution - Missense 8:58602113-58602113 - HCC058T COSM5804724 c.342A>T p.I114I Substitution - coding silent 8:58635352-58635352 - SNUH_G19_S1 COSM3685400 c.2550G>T p.R850S Substitution - Missense 8:58585761-58585761 - TCGA-BS-A0UF-01 COSM1100737 c.601G>T p.E201* Substitution - Nonsense 8:58609690-58609690 - TCGA-06-0939-01 COSM2152433 c.185C>T p.S62L Substitution - Missense 8:58635511-58635511 - TCGA-HU-A4G9-01 COSM3900822 c.1690C>A p.L564M Substitution - Missense 8:58597891-58597891 - TCGA-D1-A0ZS-01 COSM1155011 c.774C>G p.G258G Substitution - coding silent 8:58609610-58609610 - TCGA-AM-5820-01 COSM3699124 c.1186G>A p.G396S Substitution - Missense 8:58601475-58601475 - TCGA-AP-A056-01 COSM1100730 c.1500T>G p.N500K Substitution - Missense 8:58599317-58599317 - CSCC-16-T COSM4470605 c.1671C>T p.A557A Substitution - coding silent 8:58599239-58599239 - CSCC-20-T COSM4367700 c.1432C>T p.P478S Substitution - Missense 8:58599864-58599864 - YUOTHO COSM5409735 c.1751_1760del10 p.M584fs*14 Deletion - Frameshift 8:58597512-58597521 - TCGA-BM-6198-01 COSM3432489 c.786T>C p.D262D Substitution - coding silent 8:58606009-58606009 - MD-325 COSM302777 c.1919G>A p.R640H Substitution - Missense 8:58594264-58594264 - S02255 COSM5680985 c.2546G>T p.R849L Substitution - Missense 8:58585994-58585994 - RK001_C01 COSM1635829 c.2587A>G p.I863V Substitution - Missense 8:58585953-58585953 - TCGA-43-6770-01 COSM1151131 c.2180T>C p.V727A Substitution - Missense 8:58590007-58590007 - TCGA-A8-A076-01 COSM454712 c.2069C>A p.S690Y Substitution - Missense 8:58590025-58590025 - TCGA-D1-A103-01 COSM1597744 c.2845T>C p.*949Q Nonstop extension 8:58584108-58584108 - PACA46 COSM1158170 c.2543G>A p.S848N Substitution - Missense 8:58585997-58585997 - SNUH_G29_S1 COSM3685400 c.2550G>T p.R850S Substitution - Missense 8:58585761-58585761 - YUDON COSM5409738 c.677A>G p.N226S Substitution - Missense 8:58609614-58609614 - TCGA-CG-5733-01 COSM3900814 c.2667C>T p.S889S Substitution - coding silent 8:58585737-58585737 - TCGA-EE-A3AD-06 COSM3650040 c.897G>A p.E299E Substitution - coding silent 8:58603358-58603358 - HCA7 COSM4631322 c.839G>A p.G280D Substitution - Missense 8:58607782-58607782 - S00936 COSM313376 c.725G>A p.R242H Substitution - Missense 8:58607803-58607803 - TCGA-BR-4184-01 COSM3900831 c.139C>T p.H47Y Substitution - Missense 8:58642994-58642994 - I2L-P24Ta-Tumor-Biopsy COSM1100734 c.721C>T p.R241C Substitution - Missense 8:58607807-58607807 - SNU-175 COSM2719841 c.818G>A p.R273H Substitution - Missense 8:58607803-58607803 - TCGA-EE-A3AB-06 COSM3650029 c.1644A>G p.K548K Substitution - coding silent 8:58599266-58599266 - BD242T COSM5495857 c.792G>A p.L264L Substitution - coding silent 8:58606003-58606003 - Pat_26_B COSM5874854 c.1888G>A p.E630K Substitution - Missense 8:58595657-58595657 - pfg016T COSM1643618 c.1281-10delT p.? Unknown 8:58600031-58600031 - LS411 COSM2719801 c.1758G>T p.T586T Substitution - coding silent 8:58597514-58597514 - PD6415a COSM5774699 c.1511T>C p.M504T Substitution - Missense 8:58599785-58599785 - PT14_1 COSM1239639 c.526C>T p.R176C Substitution - Missense 8:58623251-58623251 - TCGA-A4-8515-01 COSM3996093 c.2627C>A p.A876E Substitution - Missense 8:58585684-58585684 - HX27T COSM3663816 c.2614G>A p.D872N Substitution - Missense 8:58585697-58585697 - I2L-P24Tb-Tumor-Organoid COSM1597740 c.814C>T p.R272C Substitution - Missense 8:58607807-58607807 - TCGA-GV-A3JX-01 COSM1314124 c.760C>T p.Q254* Substitution - Nonsense 8:58609624-58609624 - RK001_C01 COSM1635830 c.2494A>G p.I832V Substitution - Missense 8:58585953-58585953 - S02348 COSM5694498 c.445A>G p.T149A Substitution - Missense 8:58623720-58623720 - SNUH_G12_S1 COSM3685400 c.2550G>T p.R850S Substitution - Missense 8:58585761-58585761 - B80-5 COSM1755760 c.2796C>G p.I932M Substitution - Missense 8:58584157-58584157 - TCGA-F5-6814-01 COSM3432482 c.2787T>C p.C929C Substitution - coding silent 8:58584166-58584166 - TCGA-28-2513-01 COSM3413079 c.1374-1G>A p.? Unknown 8:58600022-58600022 - 19 COSM5746872 c.2701A>G p.I901V Substitution - Missense 8:58584159-58584159 - TCGA-EE-A29G-06 COSM3650031 c.1534C>T p.P512S Substitution - Missense 8:58599762-58599762 - BD72T COSM5512489 c.1130G>A p.R377H Substitution - Missense 8:58601531-58601531 - Pat_15_B COSM5874851 c.2693G>C p.C898S Substitution - Missense 8:58584167-58584167 - TCGA-EJ-5512-01 COSM4876224 c.976G>A p.E326K Substitution - Missense 8:58603372-58603372 - TCGA-AG-A002-01 COSM262476 c.241G>T p.D81Y Substitution - Missense 8:58635360-58635360 - 1_PRE-TREATMENT COSM1719717 c.1310-2A>T p.? Unknown 8:58601350-58601350 - NPC15F COSM2719841 c.818G>A p.R273H Substitution - Missense 8:58607803-58607803 - S02348 COSM5694497 c.538A>G p.T180A Substitution - Missense 8:58623720-58623720 - SNUH_G13_S1 COSM3685399 c.2643G>T p.R881S Substitution - Missense 8:58585761-58585761 - TCGA-EK-A2R8-01 COSM4822609 c.284G>C p.R95T Substitution - Missense 8:58635317-58635317 - YUOTHO COSM5409736 c.1658_1667del10 p.M553fs*14 Deletion - Frameshift 8:58597512-58597521 - TCGA-BR-6452-01 COSM3900821 c.1920C>T p.R640R Substitution - coding silent 8:58594263-58594263 - 18 COSM5745008 c.172delA p.I58fs*6 Deletion - Frameshift 8:58635524-58635524 - TCGA-EI-6917-01 COSM3432484 c.1519G>A p.D507N Substitution - Missense 8:58599777-58599777 - TCGA-BS-A0UF-01 COSM1597738 c.694G>T p.E232* Substitution - Nonsense 8:58609690-58609690 - ESO-632 COSM1259607 c.262C>T p.H88Y Substitution - Missense 8:58635339-58635339 - TCGA-AA-3697-01 COSM454713 c.50T>G p.I17S Substitution - Missense 8:58659297-58659297 - U2940 COSM5621406 c.1863T>A p.N621K Substitution - Missense 8:58597409-58597409 - SNU-175 COSM313376 c.725G>A p.R242H Substitution - Missense 8:58607803-58607803 - TCGA-BR-4361-01 COSM3900827 c.648G>A p.T216T Substitution - coding silent 8:58609643-58609643 - pfg008T COSM1643618 c.1281-10delT p.? Unknown 8:58600031-58600031 - 18 COSM5745007 c.265delA p.I89fs*6 Deletion - Frameshift 8:58635524-58635524 - HCC24 COSM1624104 c.2388C>G p.T796T Substitution - coding silent 8:58586516-58586516 - TCGA-EE-A3AD-06 COSM3650039 c.990G>A p.E330E Substitution - coding silent 8:58603358-58603358 - TCGA-BH-A0B6-01 COSM3834868 c.2233G>C p.E745Q Substitution - Missense 8:58587680-58587680 - TCGA-FS-A4F0-06 COSM3650034 c.1368T>G p.F456L Substitution - Missense 8:58599835-58599835 - SNUH_G76_S1 COSM4418819 c.1970A>G p.Y657C Substitution - Missense 8:58595575-58595575 - EGC3 COSM1457657 c.498C>T p.T166T Substitution - coding silent 8:58623383-58623383 - TCGA-HU-A4GX-01 COSM313376 c.725G>A p.R242H Substitution - Missense 8:58607803-58607803 - ME009T COSM223267 c.1292C>T p.T431I Substitution - Missense 8:58600010-58600010 - RK025_C COSM1635832 c.2277G>T p.E759D Substitution - Missense 8:58587636-58587636 - TCGA-IR-A3LL-01 COSM4849729 c.919C>G p.Q307E Substitution - Missense 8:58605969-58605969 - ESOSCC155T COSM1173417 c.1357G>C p.D453H Substitution - Missense 8:58599846-58599846 - HCC24 COSM1624103 c.2481C>G p.T827T Substitution - coding silent 8:58586516-58586516 - C608 COSM2719816 c.1319C>T p.T440M Substitution - Missense 8:58599983-58599983 - LC_C18 COSM1191128 c.1061delG p.G354fs*10 Deletion - Frameshift 8:58602122-58602122 - TCGA-D5-6535-01 COSM1457642 c.1935G>A p.W645* Substitution - Nonsense 8:58595610-58595610 - 587222 COSM1217951 c.1822G>T p.E608* Substitution - Nonsense 8:58595630-58595630 - MINO COSM1739505 c.2005T>A p.S669T Substitution - Missense 8:58590881-58590881 - LC_C18 COSM1191127 c.1154delG p.G385fs*10 Deletion - Frameshift 8:58602122-58602122 - BD57T COSM5510304 c.1817C>T p.T606I Substitution - Missense 8:58595635-58595635 - Pat_15_B COSM5874850 c.2786G>C p.C929S Substitution - Missense 8:58584167-58584167 - BD57T COSM5510303 c.1910C>T p.T637I Substitution - Missense 8:58595635-58595635 - ccRCC-85 COSM1660017 c.1293T>G p.T431T Substitution - coding silent 8:58600009-58600009 - TCGA-BT-A20N-01 COSM1133834 c.2075C>T p.S692L Substitution - Missense 8:58590904-58590904 - TCGA-G4-6628-01 COSM1457659 c.310G>T p.G104C Substitution - Missense 8:58635212-58635212 - KPOPBR-03-T COSM5965374 c.2389-2A>G p.? Unknown 8:58586610-58586610 - TCGA-CJ-5679-01 COSM486556 c.1824A>G p.E608E Substitution - coding silent 8:58595628-58595628 - ccRCC-85 COSM1660016 c.1386T>G p.T462T Substitution - coding silent 8:58600009-58600009 - CSCC-35-T COSM4572829 c.879T>G p.D293E Substitution - Missense 8:58606009-58606009 - TCGA-AG-3731-01 COSM3432486 c.1376T>C p.I459T Substitution - Missense 8:58600019-58600019 - TCGA-BG-A0LX-01 COSM1100729 c.2053G>A p.A685T Substitution - Missense 8:58590041-58590041 - PT36 COSM5915797 c.1787C>T p.S596F Substitution - Missense 8:58597392-58597392 - TCGA-DC-6682-01 COSM1569597 c.2273C>T p.A758V Substitution - Missense 8:58587640-58587640 - HCC24T COSM1624103 c.2481C>G p.T827T Substitution - coding silent 8:58586516-58586516 - TCGA-CG-5733-01 COSM3900815 c.2574C>T p.S858S Substitution - coding silent 8:58585737-58585737 - OSCC-GB_01010111 COSM4882340 c.1349A>C p.D450A Substitution - Missense 8:58601309-58601309 - TCGA-B7-5816-01 COSM2719867 c.306C>T p.S102S Substitution - coding silent 8:58635483-58635483 - Capan-1 COSM328231 c.150-5C>T p.? Unknown 8:58635551-58635551 - 722_T COSM3951745 c.1401G>C p.K467N Substitution - Missense 8:58599802-58599802 - TCGA-DK-A1AC-01 COSM1314126 c.193G>T p.E65* Substitution - Nonsense 8:58643033-58643033 - HX28T COSM1624103 c.2481C>G p.T827T Substitution - coding silent 8:58586516-58586516 - SNUH_G08_S1 COSM3685400 c.2550G>T p.R850S Substitution - Missense 8:58585761-58585761 - CSCC-44-T COSM4485986 c.299C>T p.S100L Substitution - Missense 8:58635490-58635490 - CSCC-27-T COSM4477417 c.2057C>T p.T686I Substitution - Missense 8:58590037-58590037 - T3204 COSM4708374 c.529G>A p.V177I Substitution - Missense 8:58623729-58623729 - SNUH_G64_S1 COSM3685400 c.2550G>T p.R850S Substitution - Missense 8:58585761-58585761 - TCGA-B0-5713-01 COSM1137887 c.2044+1G>C p.? Unknown 8:58594231-58594231 - TCGA-EE-A2A2-06 COSM3650024 c.2404C>T p.P802S Substitution - Missense 8:58586500-58586500 - TCGA-BR-6452-01 COSM3900825 c.899G>A p.S300N Substitution - Missense 8:58603356-58603356 - SJHGG034_D COSM4970497 c.798C>T p.S266S Substitution - coding silent 8:58605997-58605997 - TCGA-D9-A4Z6-01 COSM3650035 c.1309+1G>C p.? Unknown 8:58601444-58601444 - PD9539a COSM5789478 c.426+9A>G p.? Unknown 8:58635180-58635180 - TCGA-D8-A1J8-01 COSM3834865 c.2540-1G>C p.? Unknown 8:58586001-58586001 - SJLGG010_D COSM1716229 c.2608G>A p.V870I Substitution - Missense 8:58585703-58585703 - B80-5 COSM1755761 c.2703C>G p.I901M Substitution - Missense 8:58584157-58584157 - TCGA-BR-4361-01 COSM3900826 c.741G>A p.T247T Substitution - coding silent 8:58609643-58609643 - TCGA-06-0939 COSM2152432 c.278C>T p.S93L Substitution - Missense 8:58635511-58635511 - TCGA-39-5039-01 COSM1151138 c.1129T>C p.S377P Substitution - Missense 8:58603219-58603219 - Pat_41_B COSM5874853 c.2235G>T p.E745D Substitution - Missense 8:58587678-58587678 - TCGA-EI-6917-01 COSM3432485 c.1426G>A p.D476N Substitution - Missense 8:58599777-58599777 - TCGA-CG-4442-01 COSM3900817 c.2150T>C p.V717A Substitution - Missense 8:58589513-58589513 - WSU-HN30 COSM454713 c.50T>G p.I17S Substitution - Missense 8:58659297-58659297 - N598T COSM236509 c.549C>A p.D183E Substitution - Missense 8:58623228-58623228 - B66 COSM1755762 c.1083C>G p.L361L Substitution - coding silent 8:58603265-58603265 - SJLGG010_D COSM1716228 c.2701G>A p.V901I Substitution - Missense 8:58585703-58585703 - TCGA-BH-A0B6-01 COSM3834867 c.2326G>C p.E776Q Substitution - Missense 8:58587680-58587680 - PD9539a COSM5789479 c.333+9A>G p.? Unknown 8:58635180-58635180 - LC_C18 COSM1190801 c.1062delA p.T355fs*9 Deletion - Frameshift 8:58602121-58602121 - TCGA-A8-A076-01 COSM1489355 c.2162C>A p.S721Y Substitution - Missense 8:58590025-58590025 - YUPAER COSM5409739 c.410C>T p.S137L Substitution - Missense 8:58635205-58635205 - TCGA-MI-A75E-01 COSM4939802 c.399T>C p.Y133Y Substitution - coding silent 8:58623766-58623766 - CSCC-35-T COSM4572830 c.786T>G p.D262E Substitution - Missense 8:58606009-58606009 - Pat_05_A COSM5874856 c.1800delG p.T601fs*36 Deletion - Frameshift 8:58597472-58597472 - TCGA-GC-A3YS-01 COSM3779295 c.1893-1G>C p.? Unknown 8:58594291-58594291 - TCGA-A3-3346-01 COSM1496874 c.2041C>T p.Q681* Substitution - Nonsense 8:58594235-58594235 - CSCC-27-T COSM4477416 c.2150C>T p.T717I Substitution - Missense 8:58590037-58590037 - BD242T COSM5495856 c.885G>A p.L295L Substitution - coding silent 8:58606003-58606003 - HCT15 COSM2719814 c.1320G>A p.T440T Substitution - coding silent 8:58599982-58599982 - 268T COSM1727283 c.1592A>C p.N531T Substitution - Missense 8:58599318-58599318 - UM-SCC-11B COSM454713 c.50T>G p.I17S Substitution - Missense 8:58659297-58659297 - HCT8 COSM2719813 c.1413G>A p.T471T Substitution - coding silent 8:58599982-58599982 - 174-01-3TD COSM5417121 c.850C>T p.L284L Substitution - coding silent 8:58607771-58607771 - CSCC-44-T COSM4485987 c.206C>T p.S69L Substitution - Missense 8:58635490-58635490 - TCGA-AP-A056-01 COSM1597743 c.1593T>G p.N531K Substitution - Missense 8:58599317-58599317 - ESO-859 COSM1239639 c.526C>T p.R176C Substitution - Missense 8:58623251-58623251 - pfg016T COSM1643617 c.1374-10delT p.? Unknown 8:58600031-58600031 - S02245 COSM5260045 c.789G>T p.V263V Substitution - coding silent 8:58607832-58607832 - TCGA-FU-A3EO-01 COSM313376 c.725G>A p.R242H Substitution - Missense 8:58607803-58607803 - BN44 COSM3663818 c.1812C>T p.D604D Substitution - coding silent 8:58595640-58595640 - TCGA-AP-A0LM-01 COSM1100736 c.611C>T p.T204M Substitution - Missense 8:58609680-58609680 - TCGA-EE-A3AD-06 COSM3650038 c.933C>T p.S311S Substitution - coding silent 8:58603322-58603322 - SH-0622 COSM5018337 c.1597delC p.L533fs*1 Deletion - Frameshift 8:58597891-58597891 - 1_PRE-TREATMENT COSM1719718 c.1217-2A>T p.? Unknown 8:58601350-58601350 - PT14_1 COSM1239638 c.619C>T p.R207C Substitution - Missense 8:58623251-58623251 - SNUH_G09_S1 COSM3685400 c.2550G>T p.R850S Substitution - Missense 8:58585761-58585761 - TCGA-EJ-5512-01 COSM1132721 c.883G>A p.E295K Substitution - Missense 8:58603372-58603372 - I2L-P24Ta-Tumor-Organoid COSM1100734 c.721C>T p.R241C Substitution - Missense 8:58607807-58607807 - TCGA-BT-A20N-01 COSM422094 c.1982C>T p.S661L Substitution - Missense 8:58590904-58590904 - TCGA-18-3419-01 COSM751097 c.1050G>T p.L350F Substitution - Missense 8:58602133-58602133 - TCGA-UB-A7MB-01 COSM4931219 c.2490T>C p.N830N Substitution - coding silent 8:58585957-58585957 - TCGA-EE-A2A2-06 COSM3650023 c.2497C>T p.P833S Substitution - Missense 8:58586500-58586500 - EOPC-057_tumor_01 COSM5950985 c.1980C>T p.H660H Substitution - coding silent 8:58595565-58595565 - I2L-P24Tb-Tumor-Biopsy COSM1597740 c.814C>T p.R272C Substitution - Missense 8:58607807-58607807 - BN44T COSM3663817 c.1905C>T p.D635D Substitution - coding silent 8:58595640-58595640 - TCGA-66-2766-01 COSM1151135 c.1740G>A p.E580E Substitution - coding silent 8:58597532-58597532 - SNUH_G31_S1 COSM3685399 c.2643G>T p.R881S Substitution - Missense 8:58585761-58585761 - Gp5D COSM2719869 c.303A>G p.I101M Substitution - Missense 8:58635486-58635486 - Pat_26_B COSM5874855 c.1795G>A p.E599K Substitution - Missense 8:58595657-58595657 - 1_RESISTANT COSM1719717 c.1310-2A>T p.? Unknown 8:58601350-58601350 - BK0043 COSM4187466 c.2711T>A p.L904H Substitution - Missense 8:58585693-58585693 - CSCC-16-T COSM4572296 c.701T>C p.V234A Substitution - Missense 8:58609683-58609683 - HCC24T COSM1624104 c.2388C>G p.T796T Substitution - coding silent 8:58586516-58586516 - pfg122T COSM4756170 c.187G>A p.V63M Substitution - Missense 8:58635509-58635509 - SNUH_G25_S1 COSM3685399 c.2643G>T p.R881S Substitution - Missense 8:58585761-58585761 - TCGA-CG-5721-01 COSM3900819 c.2123A>G p.D708G Substitution - Missense 8:58589540-58589540 - U2940 COSM5621407 c.1770T>A p.N590K Substitution - Missense 8:58597409-58597409 - TCGA-MU-A5YI-01 COSM4855391 c.1566G>T p.Q522H Substitution - Missense 8:58599344-58599344 - ESCC_32 COSM5628157 c.305C>T p.S102F Substitution - Missense 8:58635217-58635217 - T3204 COSM4708375 c.436G>A p.V146I Substitution - Missense 8:58623729-58623729 - TCGA-D8-A1J8-01 COSM3834866 c.2447-1G>C p.? Unknown 8:58586001-58586001 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.371989;Hs.372000 8q12-q13 603043

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.S377P c.1129T>C 8 59515778 LUSC A G Missense p.V727A c.2180T>C 8 59502566 LUSC A G Synonymous p.Y657Y c.1971T>C 8 59508133 CM A - IntronicDeletion . c.1374-10delT 8 59512590 STAD - A IntronicInsertion . c.781-78dupT 8 59520477 CM A T Missense p.H793Q c.2379T>A 8 59500186 BRCA C A IntronicSNV . c.243-1810G>T 8 59549915 HC C A Missense p.E790D c.2370G>T 8 59500195 HC C A Missense p.G395W c.1183G>T 8 59514652 CM C A Missense p.L381F c.1143G>T 8 59514692 LUSC C A Missense p.R277S c.831G>T 8 59520349 STAD C A Missense p.R401L c.1202G>T 8 59514633 HNSC C A Nonsense p.E776* c.2326G>T 8 59500239 UCEC C G Missense p.W540C c.1620G>C 8 59511849 LUAD C G SpliceDonorSNV . c.2044+1G>C 8 59506790 RCCC C T Missense p.A716T c.2146G>A 8 59502600 UCEC C T Missense p.C358Y c.1073G>A 8 59515834 RCCC C T Missense p.E326K c.976G>A 8 59515931 PRAD C T Missense p.E475K c.1423G>A 8 59512531 LUAD C T Missense p.R273H c.818G>A 8 59520362 SCLC C T SpliceAcceptorSNV . c.1374-1G>A 8 59512581 GBM C T Synonymous p.E330E c.990G>A 8 59515917 CM C T Synonymous p.E580E c.1740G>A 8 59510091 LUSC C T Synonymous p.Q445Q c.1335G>A 8 59513882 CM G A IntronicSNV . c.650+708C>T 8 59535071 PIA G A Missense p.H119Y c.355C>T 8 59547898 ESCA G A Missense p.P171L c.512C>T 8 59536305 CM G A Missense p.P512S c.1534C>T 8 59512321 CM G A Missense p.P628S c.1882C>T 8 59509949 CM G A Missense p.P833S c.2497C>T 8 59499059 CM G A Missense p.S692L c.2075C>T 8 59503463 BLCA G A Missense p.S93L c.278C>T 8 59548070 GBM G A Missense p.T462I c.1385C>T 8 59512569 CM G A Missense p.T471M c.1412C>T 8 59512542 STAD G A Missense p.T642I c.1925C>T 8 59508179 OV G A Nonsense p.Q254* c.760C>T 8 59522183 BLCA G A Nonsense p.Q363* c.1087C>T 8 59515820 STAD G A Synonymous p.F140F c.420C>T 8 59547754 CM G A Synonymous p.S102S c.306C>T 8 59548042 STAD G A Synonymous p.S342S c.1026C>T 8 59515881 CM G A Synonymous p.S680S c.2040C>T 8 59506795 LUSC G A Synonymous p.S889S c.2667C>T 8 59498296 STAD G C Missense p.I106M c.318C>G 8 59548030 HNSC G C Missense p.S424C c.1271C>G 8 59514042 LUSC G C Synonymous p.G258G c.774C>G 8 59522169 UCEC G T Missense p.S721Y c.2162C>A 8 59502584 BRCA G T Synonymous p.A354A c.1062C>A 8 59515845 CM G T Synonymous p.I299I c.897C>A 8 59518550 COREAD T C Missense p.I863V c.2587A>G 8 59498512 HC T C Missense p.S530G c.1588A>G 8 59511881 HNSC T C SpliceAcceptorSNV . c.1219-2A>G 8 59514096 RCCC T C Synonymous p.K230K c.690A>G 8 59522253 HNSC T C Synonymous p.K548K c.1644A>G 8 59511825 CM T C Synonymous p.L598L c.1794A>G 8 59510037 LUSC T C Synonymous p.T211T c.633A>G 8 59535796 COREAD