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 67576973 67576973 + Missense_Mutation SNP C C A TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr8:67576973C>A c.2221G>T c.(2221-2223)Ggg>Tgg p.G741W ACC 8 67579170 67579170 + Silent SNP C C A TCGA-OR-A5J5-01A-11D-A29I-10 TCGA-OR-A5J5-10A-01D-A29L-10 g.chr8:67579170C>A c.24G>T c.(22-24)ccG>ccT p.P8P BLCA 8 67547599 67547599 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr8:67547599C>T c.2806G>A c.(2806-2808)Gat>Aat p.D936N BLCA 8 67563733 67563733 + Silent SNP C C T TCGA-XF-AAN0-01A-11D-A42E-08 TCGA-XF-AAN0-10A-01D-A42H-08 g.chr8:67563733C>T c.2757G>A c.(2755-2757)caG>caA p.Q919Q BLCA 8 67576615 67576615 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr8:67576615G>A c.2579C>T c.(2578-2580)tCt>tTt p.S860F BLCA 8 67576631 67576631 + Missense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 g.chr8:67576631C>T c.2563G>A c.(2563-2565)Gct>Act p.A855T BLCA 8 67576660 67576660 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr8:67576660C>T c.2534G>A c.(2533-2535)aGa>aAa p.R845K BLCA 8 67576939 67576939 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr8:67576939C>T c.2255G>A c.(2254-2256)cGt>cAt p.R752H BLCA 8 67577417 67577417 + Missense_Mutation SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 g.chr8:67577417G>T c.1777C>A c.(1777-1779)Cct>Act p.P593T BLCA 8 67577453 67577453 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 g.chr8:67577453C>G c.1741G>C c.(1741-1743)Gat>Cat p.D581H BLCA 8 67577613 67577613 + Silent SNP T T C TCGA-2F-A9KR-01A-11D-A38G-08 TCGA-2F-A9KR-10A-01D-A38J-08 g.chr8:67577613T>C c.1581A>G c.(1579-1581)gtA>gtG p.V527V BLCA 8 67577747 67577747 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr8:67577747C>G c.1447G>C c.(1447-1449)Gag>Cag p.E483Q BLCA 8 67578333 67578333 + Silent SNP C C T TCGA-4Z-AA7M-01A-11D-A391-08 TCGA-4Z-AA7M-10A-01D-A394-08 g.chr8:67578333C>T c.861G>A c.(859-861)ctG>ctA p.L287L BLCA 8 67578640 67578640 + Missense_Mutation SNP G G C TCGA-G2-AA3D-01A-11D-A391-08 TCGA-G2-AA3D-10A-01D-A394-08 g.chr8:67578640G>C c.554C>G c.(553-555)tCc>tGc p.S185C BLCA 8 67578989 67578989 + Missense_Mutation SNP C C G TCGA-XF-AAML-01A-11D-A42E-08 TCGA-XF-AAML-10A-01D-A42H-08 g.chr8:67578989C>G c.205G>C c.(205-207)Gag>Cag p.E69Q BLCA 8 67579087 67579087 + Missense_Mutation SNP A A G TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr8:67579087A>G c.107T>C c.(106-108)cTt>cCt p.L36P BRCA 8 67546774 67546774 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr8:67546774C>G c.3631G>C c.(3631-3633)Gag>Cag p.E1211Q BRCA 8 67546842 67546842 + Missense_Mutation SNP G G A TCGA-E9-A1RH-01A-21D-A167-09 TCGA-E9-A1RH-10A-01D-A167-09 g.chr8:67546842G>A c.3563C>T c.(3562-3564)gCc>gTc p.A1188V BRCA 8 67547063 67547063 + Silent SNP A A C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 g.chr8:67547063A>C c.3342T>G c.(3340-3342)tcT>tcG p.S1114S BRCA 8 67547342 67547342 + Silent SNP G G A TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 g.chr8:67547342G>A c.3063C>T c.(3061-3063)aaC>aaT p.N1021N BRCA 8 67547576 67547576 + Silent SNP T T C TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 g.chr8:67547576T>C c.2829A>G c.(2827-2829)ccA>ccG p.P943P BRCA 8 67563703 67563703 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr8:67563703C>T c.2787G>A c.(2785-2787)aaG>aaA p.K929K BRCA 8 67577518 67577518 + Missense_Mutation SNP T T C TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr8:67577518T>C c.1676A>G c.(1675-1677)gAt>gGt p.D559G BRCA 8 67578547 67578547 + Missense_Mutation SNP T T G TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 g.chr8:67578547T>G c.647A>C c.(646-648)gAt>gCt p.D216A BRCA 8 67578573 67578573 + Missense_Mutation SNP A A C TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 g.chr8:67578573A>C c.621T>G c.(619-621)tgT>tgG p.C207W BRCA 8 67578719 67578719 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 g.chr8:67578719C>G c.475G>C c.(475-477)Gat>Cat p.D159H BRCA 8 67578968 67578968 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 g.chr8:67578968G>C c.226C>G c.(226-228)Cgg>Ggg p.R76G BRCA 8 67579088 67579089 + Frame_Shift_Ins INS - - C TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 g.chr8:67579088_67579089insC c.105_106insG c.(103-108)gggcttfs p.L36fs BRCA 8 67579088 67579089 + Frame_Shift_Ins INS - - C TCGA-AO-A03O-01A-11W-A019-09 TCGA-AO-A03O-10A-01W-A021-09 g.chr8:67579088_67579089insC c.105_106insG c.(103-108)gggcttfs p.L36fs CESC 8 67547485 67547485 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 g.chr8:67547485C>G c.2920G>C c.(2920-2922)Gat>Cat p.D974H CESC 8 67547564 67547564 + Silent SNP G G T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 g.chr8:67547564G>T c.2841C>A c.(2839-2841)ggC>ggA p.G947G CESC 8 67576721 67576721 + Nonsense_Mutation SNP C C A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 g.chr8:67576721C>A c.2473G>T c.(2473-2475)Gag>Tag p.E825* CESC 8 67577840 67577840 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 g.chr8:67577840C>G c.1354G>C c.(1354-1356)Gaa>Caa p.E452Q CESC 8 67577872 67577872 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr8:67577872C>T c.1322G>A c.(1321-1323)aGa>aAa p.R441K CESC 8 67577894 67577894 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr8:67577894C>T c.1300G>A c.(1300-1302)Gat>Aat p.D434N CESC 8 67579043 67579043 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr8:67579043C>G c.151G>C c.(151-153)Gat>Cat p.D51H CHOL 8 67577658 67577658 + Missense_Mutation SNP C C A TCGA-ZH-A8Y6-01A-11D-A417-09 TCGA-ZH-A8Y6-10A-01D-A41A-09 g.chr8:67577658C>A c.1536G>T c.(1534-1536)ttG>ttT p.L512F COAD 8 67546804 67546804 + Missense_Mutation SNP C C T TCGA-A6-6654-01A-21D-1835-10 TCGA-A6-6654-10A-01D-1835-10 g.chr8:67546804C>T c.3601G>A c.(3601-3603)Gag>Aag p.E1201K COAD 8 67546804 67546804 + Missense_Mutation SNP C C T TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr8:67546804C>T c.3601G>A c.(3601-3603)Gag>Aag p.E1201K COAD 8 67546936 67546936 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr8:67546936A>C c.3469T>G c.(3469-3471)Ttg>Gtg p.L1157V COAD 8 67547089 67547089 + Nonsense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr8:67547089G>A c.3316C>T c.(3316-3318)Cga>Tga p.R1106* COAD 8 67547142 67547142 + Missense_Mutation SNP A A G TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr8:67547142A>G c.3263T>C c.(3262-3264)gTa>gCa p.V1088A COAD 8 67547318 67547318 + Silent SNP C C T TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr8:67547318C>T c.3087G>A c.(3085-3087)ggG>ggA p.G1029G COAD 8 67547319 67547319 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr8:67547319C>T c.3086G>A c.(3085-3087)gGg>gAg p.G1029E COAD 8 67576841 67576841 + Nonsense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr8:67576841G>A c.2353C>T c.(2353-2355)Cga>Tga p.R785* COAD 8 67577184 67577184 + Silent SNP A A G TCGA-A6-6652-01A-11D-1771-10 TCGA-A6-6652-10A-01D-1771-10 g.chr8:67577184A>G c.2010T>C c.(2008-2010)ggT>ggC p.G670G COAD 8 67577185 67577185 + Missense_Mutation SNP C C T TCGA-CA-6715-01A-21D-1835-10 TCGA-CA-6715-10A-01D-1835-10 g.chr8:67577185C>T c.2009G>A c.(2008-2010)gGt>gAt p.G670D COAD 8 67577555 67577555 + Nonsense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr8:67577555G>A c.1639C>T c.(1639-1641)Cga>Tga p.R547* COAD 8 67577644 67577644 + Missense_Mutation SNP C C G TCGA-CM-6168-01A-11D-1650-10 TCGA-CM-6168-10A-01D-1650-10 g.chr8:67577644C>G c.1550G>C c.(1549-1551)tGc>tCc p.C517S COAD 8 67577754 67577754 + Silent SNP A A G TCGA-CA-6716-01A-11D-1835-10 TCGA-CA-6716-10A-01D-1835-10 g.chr8:67577754A>G c.1440T>C c.(1438-1440)gtT>gtC p.V480V COAD 8 67577755 67577755 + Missense_Mutation SNP A A G TCGA-F4-6460-01A-11D-1771-10 TCGA-F4-6460-10B-01D-1771-10 g.chr8:67577755A>G c.1439T>C c.(1438-1440)gTt>gCt p.V480A COAD 8 67577817 67577817 + Frame_Shift_Del DEL T T - TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr8:67577817delT c.1377delA c.(1375-1377)aaafs p.K459fs COAD 8 67578477 67578477 + Silent SNP T T C TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr8:67578477T>C c.717A>G c.(715-717)agA>agG p.R239R COAD 8 67578928 67578928 + Missense_Mutation SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr8:67578928G>A c.266C>T c.(265-267)aCc>aTc p.T89I COAD 8 67579153 67579170 + In_Frame_Del DEL GGCGGCGGCAACGGAGGC GGCGGCGGCAACGGAGGC - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr8:67579153_67579170delGGCGGCGGCAACGGAGGC c.24_41delGCCTCCGTTGCCGCCGCC c.(22-42)ccgcctccgttgccgccgcca>cca p.8_14PPPLPPP>P COADREAD 8 67546804 67546804 + Missense_Mutation SNP C C T TCGA-A6-6654-01A-21D-1835-10 TCGA-A6-6654-10A-01D-1835-10 g.chr8:67546804C>T c.3601G>A c.(3601-3603)Gag>Aag p.E1201K COADREAD 8 67546804 67546804 + Missense_Mutation SNP C C T TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr8:67546804C>T c.3601G>A c.(3601-3603)Gag>Aag p.E1201K COADREAD 8 67546899 67546899 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:67546899T>G c.3506A>C c.(3505-3507)aAt>aCt p.N1169T COADREAD 8 67546936 67546936 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr8:67546936A>C c.3469T>G c.(3469-3471)Ttg>Gtg p.L1157V COADREAD 8 67547089 67547089 + Nonsense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr8:67547089G>A c.3316C>T c.(3316-3318)Cga>Tga p.R1106* COADREAD 8 67547142 67547142 + Missense_Mutation SNP A A G TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr8:67547142A>G c.3263T>C c.(3262-3264)gTa>gCa p.V1088A COADREAD 8 67547158 67547158 + Nonsense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:67547158G>A c.3247C>T c.(3247-3249)Cga>Tga p.R1083* COADREAD 8 67547318 67547318 + Silent SNP C C T TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr8:67547318C>T c.3087G>A c.(3085-3087)ggG>ggA p.G1029G COADREAD 8 67547319 67547319 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr8:67547319C>T c.3086G>A c.(3085-3087)gGg>gAg p.G1029E COADREAD 8 67576841 67576841 + Nonsense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr8:67576841G>A c.2353C>T c.(2353-2355)Cga>Tga p.R785* COADREAD 8 67577184 67577184 + Silent SNP A A G TCGA-A6-6652-01A-11D-1771-10 TCGA-A6-6652-10A-01D-1771-10 g.chr8:67577184A>G c.2010T>C c.(2008-2010)ggT>ggC p.G670G COADREAD 8 67577185 67577185 + Missense_Mutation SNP C C T TCGA-CA-6715-01A-21D-1835-10 TCGA-CA-6715-10A-01D-1835-10 g.chr8:67577185C>T c.2009G>A c.(2008-2010)gGt>gAt p.G670D COADREAD 8 67577555 67577555 + Nonsense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr8:67577555G>A c.1639C>T c.(1639-1641)Cga>Tga p.R547* COADREAD 8 67577644 67577644 + Missense_Mutation SNP C C G TCGA-CM-6168-01A-11D-1650-10 TCGA-CM-6168-10A-01D-1650-10 g.chr8:67577644C>G c.1550G>C c.(1549-1551)tGc>tCc p.C517S COADREAD 8 67577754 67577754 + Silent SNP A A G TCGA-CA-6716-01A-11D-1835-10 TCGA-CA-6716-10A-01D-1835-10 g.chr8:67577754A>G c.1440T>C c.(1438-1440)gtT>gtC p.V480V COADREAD 8 67577755 67577755 + Missense_Mutation SNP A A G TCGA-F4-6460-01A-11D-1771-10 TCGA-F4-6460-10B-01D-1771-10 g.chr8:67577755A>G c.1439T>C c.(1438-1440)gTt>gCt p.V480A COADREAD 8 67577817 67577817 + Frame_Shift_Del DEL T T - TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr8:67577817delT c.1377delA c.(1375-1377)aaafs p.K459fs COADREAD 8 67578477 67578477 + Silent SNP T T C TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr8:67578477T>C c.717A>G c.(715-717)agA>agG p.R239R COADREAD 8 67578928 67578928 + Missense_Mutation SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr8:67578928G>A c.266C>T c.(265-267)aCc>aTc p.T89I COADREAD 8 67579153 67579170 + In_Frame_Del DEL GGCGGCGGCAACGGAGGC GGCGGCGGCAACGGAGGC - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr8:67579153_67579170delGGCGGCGGCAACGGAGGC c.24_41delGCCTCCGTTGCCGCCGCC c.(22-42)ccgcctccgttgccgccgcca>cca p.8_14PPPLPPP>P DLBC 8 67577327 67577327 + Missense_Mutation SNP A A T TCGA-GS-A9TZ-01A-11D-A38X-10 TCGA-GS-A9TZ-10A-01D-A38X-10 g.chr8:67577327A>T c.1867T>A c.(1867-1869)Tac>Aac p.Y623N DLBC 8 67577531 67577531 + Missense_Mutation SNP T T C TCGA-GS-A9TZ-01A-11D-A38X-10 TCGA-GS-A9TZ-10A-01D-A38X-10 g.chr8:67577531T>C c.1663A>G c.(1663-1665)Att>Gtt p.I555V ESCA 8 67547064 67547064 + Missense_Mutation SNP G G A TCGA-IG-A50L-01A-11D-A27G-09 TCGA-IG-A50L-10A-01D-A27G-09 g.chr8:67547064G>A c.3341C>T c.(3340-3342)tCt>tTt p.S1114F ESCA 8 67576874 67576874 + Missense_Mutation SNP C C G TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 g.chr8:67576874C>G c.2320G>C c.(2320-2322)Gag>Cag p.E774Q ESCA 8 67576954 67576954 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 g.chr8:67576954G>T c.2240C>A c.(2239-2241)tCt>tAt p.S747Y GBM 8 67546807 67546807 + Nonsense_Mutation SNP C C A TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 g.chr8:67546807C>A c.3598G>T c.(3598-3600)Gag>Tag p.E1200* GBMLGG 8 67546807 67546807 + Nonsense_Mutation SNP C C A TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 g.chr8:67546807C>A c.3598G>T c.(3598-3600)Gag>Tag p.E1200* HNSC 8 67546742 67546742 + Silent SNP G G A TCGA-BA-A6DA-01A-31D-A31L-08 TCGA-BA-A6DA-10A-01D-A31J-08 g.chr8:67546742G>A c.3663C>T c.(3661-3663)caC>caT p.H1221H HNSC 8 67546882 67546882 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr8:67546882T>C c.3523A>G c.(3523-3525)Act>Gct p.T1175A HNSC 8 67547415 67547415 + Nonsense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr8:67547415G>C c.2990C>G c.(2989-2991)tCa>tGa p.S997* HNSC 8 67576729 67576729 + Missense_Mutation SNP G G C TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 g.chr8:67576729G>C c.2465C>G c.(2464-2466)cCt>cGt p.P822R HNSC 8 67577807 67577807 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 g.chr8:67577807C>G c.1387G>C c.(1387-1389)Gat>Cat p.D463H HNSC 8 67578020 67578020 + Missense_Mutation SNP C C T TCGA-P3-A5QF-01A-11D-A28R-08 TCGA-P3-A5QF-10A-01D-A28U-08 g.chr8:67578020C>T c.1174G>A c.(1174-1176)Gaa>Aaa p.E392K HNSC 8 67578144 67578144 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 g.chr8:67578144G>A c.1050C>T c.(1048-1050)tcC>tcT p.S350S HNSC 8 67578153 67578153 + Nonsense_Mutation SNP C C T TCGA-CN-A49A-01A-11D-A24D-08 TCGA-CN-A49A-10A-01D-A24F-08 g.chr8:67578153C>T c.1041G>A c.(1039-1041)tgG>tgA p.W347* HNSC 8 67578197 67578197 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr8:67578197T>C c.997A>G c.(997-999)Act>Gct p.T333A HNSC 8 67578251 67578251 + Missense_Mutation SNP A A T TCGA-CV-5432-01A-02D-1683-08 TCGA-CV-5432-10A-01D-1870-08 g.chr8:67578251A>T c.943T>A c.(943-945)Tct>Act p.S315T KIPAN 8 67546928 67546928 + Silent SNP T T C TCGA-CJ-6033-01A-11D-1669-08 TCGA-CJ-6033-11A-01D-1669-08 g.chr8:67546928T>C c.3477A>G c.(3475-3477)gaA>gaG p.E1159E KIPAN 8 67546975 67546980 + In_Frame_Del DEL CAACTT CAACTT - TCGA-B0-5075-01A-01D-1462-08 TCGA-B0-5075-11A-01D-1462-08 g.chr8:67546975_67546980delCAACTT c.3425_3430delAAGTTG c.(3424-3432)gaagttgtg>gtg p.EV1142del KIPAN 8 67546979 67546979 + Silent SNP T T C TCGA-2Z-A9JT-01A-11D-A42J-10 TCGA-2Z-A9JT-10A-01D-A42M-10 g.chr8:67546979T>C c.3426A>G c.(3424-3426)gaA>gaG p.E1142E KIPAN 8 67576661 67576661 + Silent SNP T T G TCGA-B0-4697-01A-01D-1361-10 TCGA-B0-4697-11A-01D-1361-10 g.chr8:67576661T>G c.2533A>C c.(2533-2535)Aga>Cga p.R845R KIPAN 8 67576667 67576667 + Missense_Mutation SNP C C A TCGA-2Z-A9J6-01A-11D-A382-10 TCGA-2Z-A9J6-10A-01D-A385-10 g.chr8:67576667C>A c.2527G>T c.(2527-2529)Ggc>Tgc p.G843C KIPAN 8 67577113 67577113 + Missense_Mutation SNP A A G TCGA-A4-8311-01A-11D-2396-08 TCGA-A4-8311-10A-01D-2396-08 g.chr8:67577113A>G c.2081T>C c.(2080-2082)cTt>cCt p.L694P KIPAN 8 67577722 67577722 + Frame_Shift_Del DEL A A - TCGA-2Z-A9JR-01A-12D-A42J-10 TCGA-2Z-A9JR-10A-01D-A42M-10 g.chr8:67577722delA c.1472delT c.(1471-1473)ttgfs p.L491fs KIPAN 8 67578932 67578933 + Missense_Mutation DNP CC CC AG TCGA-B0-5119-01A-02D-1421-08 TCGA-B0-5119-11A-01D-1421-08 g.chr8:67578932_67578933CC>AG c.261_262GG>CT c.(259-264)gaGGtg>gaCTtg p.87_88EV>DL KIRC 8 67546928 67546928 + Silent SNP T T C TCGA-CJ-6033-01A-11D-1669-08 TCGA-CJ-6033-11A-01D-1669-08 g.chr8:67546928T>C c.3477A>G c.(3475-3477)gaA>gaG p.E1159E KIRC 8 67546975 67546980 + In_Frame_Del DEL CAACTT CAACTT - TCGA-B0-5075-01A-01D-1462-08 TCGA-B0-5075-11A-01D-1462-08 g.chr8:67546975_67546980delCAACTT c.3425_3430delAAGTTG c.(3424-3432)gaagttgtg>gtg p.EV1142del KIRC 8 67576661 67576661 + Silent SNP T T G TCGA-B0-4697-01A-01D-1361-10 TCGA-B0-4697-11A-01D-1361-10 g.chr8:67576661T>G c.2533A>C c.(2533-2535)Aga>Cga p.R845R KIRC 8 67578932 67578933 + Missense_Mutation DNP CC CC AG TCGA-B0-5119-01A-02D-1421-08 TCGA-B0-5119-11A-01D-1421-08 g.chr8:67578932_67578933CC>AG c.261_262GG>CT c.(259-264)gaGGtg>gaCTtg p.87_88EV>DL KIRP 8 67546979 67546979 + Silent SNP T T C TCGA-2Z-A9JT-01A-11D-A42J-10 TCGA-2Z-A9JT-10A-01D-A42M-10 g.chr8:67546979T>C c.3426A>G c.(3424-3426)gaA>gaG p.E1142E KIRP 8 67576667 67576667 + Missense_Mutation SNP C C A TCGA-2Z-A9J6-01A-11D-A382-10 TCGA-2Z-A9J6-10A-01D-A385-10 g.chr8:67576667C>A c.2527G>T c.(2527-2529)Ggc>Tgc p.G843C KIRP 8 67577113 67577113 + Missense_Mutation SNP A A G TCGA-A4-8311-01A-11D-2396-08 TCGA-A4-8311-10A-01D-2396-08 g.chr8:67577113A>G c.2081T>C c.(2080-2082)cTt>cCt p.L694P KIRP 8 67577722 67577722 + Frame_Shift_Del DEL A A - TCGA-2Z-A9JR-01A-12D-A42J-10 TCGA-2Z-A9JR-10A-01D-A42M-10 g.chr8:67577722delA c.1472delT c.(1471-1473)ttgfs p.L491fs LIHC 8 67547274 67547274 + Missense_Mutation SNP C C T TCGA-DD-AADO-01A-11D-A40R-10 TCGA-DD-AADO-10A-01D-A40U-10 g.chr8:67547274C>T c.3131G>A c.(3130-3132)aGa>aAa p.R1044K LIHC 8 67578049 67578049 + Missense_Mutation SNP T T C TCGA-DD-AAD5-01A-11D-A40R-10 TCGA-DD-AAD5-10A-01D-A40U-10 g.chr8:67578049T>C c.1145A>G c.(1144-1146)cAg>cGg p.Q382R LUAD 8 67547476 67547476 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr8:67547476C>A c.2929G>T c.(2929-2931)Gat>Tat p.D977Y LUAD 8 67578433 67578433 + Missense_Mutation SNP T T A TCGA-69-8255-01A-11D-2284-08 TCGA-69-8255-10A-01D-2284-08 g.chr8:67578433T>A c.761A>T c.(760-762)cAa>cTa p.Q254L LUAD 8 67578701 67578701 + Missense_Mutation SNP C C A TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr8:67578701C>A c.493G>T c.(493-495)Gac>Tac p.D165Y LUAD 8 67579088 67579089 + Frame_Shift_Ins INS - - C TCGA-17-Z050-01A-01W-0747-08 TCGA-17-Z050-11A-01W-0747-08 g.chr8:67579088_67579089insC c.105_106insG c.(103-108)gggcttfs p.L36fs LUAD 8 67579089 67579089 + Silent SNP C C A TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr8:67579089C>A c.105G>T c.(103-105)ggG>ggT p.G35G LUSC 8 67547090 67547090 + Silent SNP C C T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 g.chr8:67547090C>T c.3315G>A c.(3313-3315)caG>caA p.Q1105Q LUSC 8 67547206 67547206 + Missense_Mutation SNP T T C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr8:67547206T>C c.3199A>G c.(3199-3201)Aca>Gca p.T1067A LUSC 8 67547217 67547217 + Missense_Mutation SNP C C A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 g.chr8:67547217C>A c.3188G>T c.(3187-3189)aGt>aTt p.S1063I LUSC 8 67547363 67547363 + Missense_Mutation SNP C C G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 g.chr8:67547363C>G c.3042G>C c.(3040-3042)aaG>aaC p.K1014N LUSC 8 67547539 67547539 + Missense_Mutation SNP C C G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 g.chr8:67547539C>G c.2866G>C c.(2866-2868)Gaa>Caa p.E956Q LUSC 8 67577946 67577946 + Silent SNP A A G TCGA-21-5784-01A-01D-1632-08 TCGA-21-5784-10A-01D-1632-08 g.chr8:67577946A>G c.1248T>C c.(1246-1248)gcT>gcC p.A416A LUSC 8 67578320 67578320 + Missense_Mutation SNP T T C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 g.chr8:67578320T>C c.874A>G c.(874-876)Ata>Gta p.I292V LUSC 8 67578502 67578502 + Missense_Mutation SNP C C T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 g.chr8:67578502C>T c.692G>A c.(691-693)cGa>cAa p.R231Q LUSC 8 67578617 67578617 + Missense_Mutation SNP C C T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 g.chr8:67578617C>T c.577G>A c.(577-579)Gac>Aac p.D193N LUSC 8 67579091 67579091 + Missense_Mutation SNP C C A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 g.chr8:67579091C>A c.103G>T c.(103-105)Ggg>Tgg p.G35W LUSC 8 67579132 67579132 + Missense_Mutation SNP G G A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 g.chr8:67579132G>A c.62C>T c.(61-63)cCa>cTa p.P21L OV 8 67577186 67577186 + Missense_Mutation SNP C C A TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 g.chr8:67577186C>A c.2008G>T c.(2008-2010)Ggt>Tgt p.G670C OV 8 67577756 67577756 + Missense_Mutation SNP C C G TCGA-25-1326-01A-01W-0492-08 TCGA-25-1326-10A-01W-0492-08 g.chr8:67577756C>G c.1438G>C c.(1438-1440)Gtt>Ctt p.V480L PAAD 8 67576841 67576841 + Nonsense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr8:67576841G>A c.2353C>T c.(2353-2355)Cga>Tga p.R785* PAAD 8 67577279 67577279 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr8:67577279C>A c.1915G>T c.(1915-1917)Ggg>Tgg p.G639W PAAD 8 67577555 67577555 + Nonsense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr8:67577555G>A c.1639C>T c.(1639-1641)Cga>Tga p.R547* PAAD 8 67577597 67577597 + Missense_Mutation SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr8:67577597T>G c.1597A>C c.(1597-1599)Agt>Cgt p.S533R PAAD 8 67577681 67577681 + Missense_Mutation SNP C C A TCGA-YB-A89D-01A-12D-A36O-08 TCGA-YB-A89D-10A-01D-A367-08 g.chr8:67577681C>A c.1513G>T c.(1513-1515)Gac>Tac p.D505Y PAAD 8 67578482 67578482 + Missense_Mutation SNP A A C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr8:67578482A>C c.712T>G c.(712-714)Tta>Gta p.L238V PAAD 8 67578760 67578760 + Missense_Mutation SNP C C A TCGA-YB-A89D-01A-12D-A36O-08 TCGA-YB-A89D-10A-01D-A367-08 g.chr8:67578760C>A c.434G>T c.(433-435)cGg>cTg p.R145L PCPG 8 67577499 67577499 + Silent SNP A A G TCGA-QR-A70I-01A-11D-A35D-08 TCGA-QR-A70I-10A-01D-A35B-08 g.chr8:67577499A>G c.1695T>C c.(1693-1695)tcT>tcC p.S565S PRAD 8 67577666 67577666 + Missense_Mutation SNP A A G TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 g.chr8:67577666A>G c.1528T>C c.(1528-1530)Ttt>Ctt p.F510L PRAD 8 67578194 67578195 + Frame_Shift_Ins INS - - A TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 g.chr8:67578194_67578195insA c.999_1000insT c.(997-1002)actgggfs p.G334fs PRAD 8 67578649 67578649 + Missense_Mutation SNP T T C TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 g.chr8:67578649T>C c.545A>G c.(544-546)aAg>aGg p.K182R PRAD 8 67579179 67579179 + Silent SNP C C A TCGA-KK-A6E0-01A-11D-A30X-08 TCGA-KK-A6E0-11A-11D-A30X-08 g.chr8:67579179C>A c.15G>T c.(13-15)ccG>ccT p.P5P READ 8 67546899 67546899 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:67546899T>G c.3506A>C c.(3505-3507)aAt>aCt p.N1169T READ 8 67547158 67547158 + Nonsense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:67547158G>A c.3247C>T c.(3247-3249)Cga>Tga p.R1083* SARC 8 67577245 67577245 + Missense_Mutation SNP G G C TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 g.chr8:67577245G>C c.1949C>G c.(1948-1950)aCt>aGt p.T650S SKCM 8 67547092 67547092 + Nonsense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 g.chr8:67547092G>A c.3313C>T c.(3313-3315)Cag>Tag p.Q1105* SKCM 8 67547093 67547093 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 g.chr8:67547093G>A c.3312C>T c.(3310-3312)gcC>gcT p.A1104A SKCM 8 67547158 67547158 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr8:67547158G>A c.3247C>T c.(3247-3249)Cga>Tga p.R1083* SKCM 8 67547298 67547298 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr8:67547298G>A c.3107C>T c.(3106-3108)tCt>tTt p.S1036F SKCM 8 67576730 67576730 + Missense_Mutation SNP G G A TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr8:67576730G>A c.2464C>T c.(2464-2466)Cct>Tct p.P822S SKCM 8 67577010 67577010 + Missense_Mutation SNP C C G TCGA-D3-A2JO-06A-11D-A196-08 TCGA-D3-A2JO-10A-01D-A198-08 g.chr8:67577010C>G c.2184G>C c.(2182-2184)caG>caC p.Q728H SKCM 8 67577418 67577418 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 g.chr8:67577418G>A c.1776C>T c.(1774-1776)ttC>ttT p.F592F SKCM 8 67578227 67578227 + Missense_Mutation SNP G G C TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr8:67578227G>C c.967C>G c.(967-969)Cta>Gta p.L323V SKCM 8 67578269 67578269 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr8:67578269G>A c.925C>T c.(925-927)Ctc>Ttc p.L309F SKCM 8 67578462 67578462 + Silent SNP C C T TCGA-EE-A2MH-06A-11D-A197-08 TCGA-EE-A2MH-10A-01D-A199-08 g.chr8:67578462C>T c.732G>A c.(730-732)caG>caA p.Q244Q SKCM 8 67578798 67578798 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr8:67578798G>A c.396C>T c.(394-396)ccC>ccT p.P132P

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 67578729 67578729 single base substitution G A synonymous_variant G155G 465C>T BLCA-US 8 67547599 67547599 single base substitution C T missense_variant D936N 2806G>A BLCA-US 8 67576615 67576615 single base substitution G A missense_variant S860F 2579C>T BLCA-US 8 67576660 67576660 single base substitution C T missense_variant R845K 2534G>A BLCA-US 8 67576939 67576939 single base substitution C T missense_variant R752H 2255G>A BLCA-US 8 67577466 67577466 single base substitution G A synonymous_variant F576F 1728C>T BRCA-EU 8 67535787 67535787 single base substitution G C downstream_gene_variant BRCA-EU 8 67535956 67535956 single base substitution C A downstream_gene_variant BRCA-EU 8 67536345 67536345 single base substitution A T downstream_gene_variant BRCA-EU 8 67536605 67536605 single base substitution C A downstream_gene_variant BRCA-EU 8 67537921 67537921 deletion of <=200bp A - downstream_gene_variant BRCA-EU 8 67538760 67538760 single base substitution C G downstream_gene_variant BRCA-EU 8 67540073 67540073 single base substitution T G downstream_gene_variant BRCA-EU 8 67540487 67540487 deletion of <=200bp T - downstream_gene_variant BRCA-EU 8 67542993 67542993 single base substitution C T 3_prime_UTR_variant BRCA-EU 8 67543599 67543599 single base substitution G C 3_prime_UTR_variant BRCA-EU 8 67544192 67544196 deletion of <=200bp ATAAA - 3_prime_UTR_variant BRCA-EU 8 67544937 67544937 single base substitution A G 3_prime_UTR_variant BRCA-EU 8 67545160 67545160 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 8 67545217 67545217 single base substitution C T 3_prime_UTR_variant BRCA-EU 8 67547291 67547291 single base substitution G A synonymous_variant N1038N 3114C>T BRCA-EU 8 67549102 67549102 single base substitution T A intron_variant BRCA-EU 8 67549271 67549271 single base substitution G A intron_variant BRCA-EU 8 67551206 67551206 insertion of <=200bp - TA intron_variant BRCA-EU 8 67553933 67553933 single base substitution C G intron_variant BRCA-EU 8 67554555 67554555 single base substitution T G intron_variant BRCA-EU 8 67555153 67555153 single base substitution T C intron_variant BRCA-EU 8 67557380 67557380 single base substitution G A intron_variant BRCA-EU 8 67557456 67557456 single base substitution C A intron_variant BRCA-EU 8 67557577 67557577 single base substitution C G intron_variant BRCA-EU 8 67559304 67559304 single base substitution A C intron_variant BRCA-EU 8 67559473 67559473 single base substitution G C intron_variant BRCA-EU 8 67560262 67560262 single base substitution T C intron_variant BRCA-EU 8 67560824 67560824 single base substitution C G intron_variant BRCA-EU 8 67560906 67560906 single base substitution C T intron_variant BRCA-EU 8 67561750 67561750 insertion of <=200bp - A intron_variant BRCA-EU 8 67562134 67562134 deletion of <=200bp A - intron_variant BRCA-EU 8 67562148 67562148 deletion of <=200bp T - intron_variant BRCA-EU 8 67562541 67562541 single base substitution C T intron_variant BRCA-EU 8 67563420 67563420 single base substitution C G intron_variant BRCA-EU 8 67563513 67563513 single base substitution G T intron_variant BRCA-EU 8 67564953 67564953 single base substitution T C intron_variant BRCA-EU 8 67566838 67566838 single base substitution C T intron_variant BRCA-EU 8 67567929 67567929 deletion of <=200bp A - intron_variant BRCA-EU 8 67570346 67570346 single base substitution G A intron_variant BRCA-EU 8 67570605 67570605 single base substitution G C intron_variant BRCA-EU 8 67571438 67571438 single base substitution T A intron_variant BRCA-EU 8 67572971 67572971 deletion of <=200bp T - intron_variant BRCA-EU 8 67574283 67574283 single base substitution T G intron_variant BRCA-EU 8 67574759 67574759 single base substitution G C intron_variant BRCA-EU 8 67574814 67574814 single base substitution G A intron_variant BRCA-EU 8 67574834 67574834 single base substitution G C intron_variant BRCA-EU 8 67575378 67575378 single base substitution G C intron_variant BRCA-EU 8 67576202 67576202 single base substitution T C intron_variant BRCA-EU 8 67576276 67576276 single base substitution C G intron_variant BRCA-EU 8 67577347 67577347 single base substitution G A missense_variant S616L 1847C>T BRCA-EU 8 67578843 67578843 single base substitution T C synonymous_variant V117V 351A>G BRCA-EU 8 67579880 67579880 single base substitution T C upstream_gene_variant BRCA-EU 8 67580262 67580262 single base substitution G T upstream_gene_variant BRCA-EU 8 67580729 67580729 single base substitution C G upstream_gene_variant BRCA-EU 8 67582312 67582312 single base substitution C G upstream_gene_variant BRCA-EU 8 67582521 67582521 single base substitution C T upstream_gene_variant BRCA-FR 8 67540073 67540073 single base substitution T G downstream_gene_variant BRCA-FR 8 67553933 67553933 single base substitution C G intron_variant BRCA-FR 8 67557380 67557380 single base substitution G A intron_variant BRCA-FR 8 67560501 67560501 single base substitution C G intron_variant BRCA-FR 8 67560824 67560824 single base substitution C G intron_variant BRCA-FR 8 67565922 67565922 single base substitution T C intron_variant BRCA-UK 8 67536345 67536345 single base substitution A T downstream_gene_variant BRCA-UK 8 67547532 67547532 single base substitution C T missense_variant R958K 2873G>A BRCA-UK 8 67557456 67557456 single base substitution C A intron_variant BRCA-UK 8 67576721 67576721 single base substitution C G missense_variant E825Q 2473G>C BRCA-UK 8 67577156 67577156 single base substitution G C missense_variant Q680E 2038C>G BRCA-UK 8 67578324 67578324 single base substitution G C missense_variant I290M 870C>G BRCA-US 8 67546774 67546774 single base substitution C G missense_variant E1211Q 3631G>C BRCA-US 8 67546842 67546842 single base substitution G A missense_variant A1188V 3563C>T BRCA-US 8 67547063 67547063 single base substitution A C synonymous_variant S1114S 3342T>G BRCA-US 8 67547342 67547342 single base substitution G A synonymous_variant N1021N 3063C>T BRCA-US 8 67547576 67547576 single base substitution T C synonymous_variant P943P 2829A>G BRCA-US 8 67563703 67563703 single base substitution C T synonymous_variant K929K 2787G>A BRCA-US 8 67577518 67577518 single base substitution T C missense_variant D559G 1676A>G BRCA-US 8 67578547 67578547 single base substitution T G missense_variant D216A 647A>C BRCA-US 8 67578573 67578573 single base substitution A C missense_variant C207W 621T>G BRCA-US 8 67578719 67578719 single base substitution C G missense_variant D159H 475G>C BRCA-US 8 67578968 67578968 single base substitution G C missense_variant R76G 226C>G BRCA-US 8 67579088 67579088 insertion of <=200bp - C frameshift_variant L36R? BTCA-JP 8 67578608 67578608 single base substitution C T missense_variant E196K 586G>A CESC-US 8 67547485 67547485 single base substitution C G missense_variant D974H 2920G>C CESC-US 8 67547564 67547564 single base substitution G T synonymous_variant G947G 2841C>A CESC-US 8 67576721 67576721 single base substitution C A stop_gained E825* 2473G>T CESC-US 8 67577840 67577840 single base substitution C G missense_variant E452Q 1354G>C CESC-US 8 67577872 67577872 single base substitution C T missense_variant R441K 1322G>A CESC-US 8 67577894 67577894 single base substitution C T missense_variant D434N 1300G>A CESC-US 8 67579043 67579043 single base substitution C G missense_variant D51H 151G>C CLLE-ES 8 67549798 67549798 single base substitution G T intron_variant CLLE-ES 8 67551122 67551122 single base substitution T C intron_variant CLLE-ES 8 67575284 67575284 single base substitution G A intron_variant CLLE-ES 8 67580092 67580092 single base substitution T C upstream_gene_variant CLLE-ES 8 67582731 67582731 single base substitution T G upstream_gene_variant COAD-US 8 67546936 67546936 single base substitution A C missense_variant L1157V 3469T>G COAD-US 8 67547089 67547089 single base substitution G A stop_gained R1106* 3316C>T COAD-US 8 67547142 67547142 single base substitution A G missense_variant V1088A 3263T>C COAD-US 8 67547565 67547565 single base substitution C T missense_variant G947D 2840G>A COAD-US 8 67577555 67577555 single base substitution G A stop_gained R547* 1639C>T COAD-US 8 67577644 67577644 single base substitution C G missense_variant C517S 1550G>C COAD-US 8 67577817 67577817 deletion of <=200bp T - frameshift_variant K459 COAD-US 8 67578477 67578477 single base substitution T C synonymous_variant R239R 717A>G COAD-US 8 67578928 67578928 single base substitution G A missense_variant T89I 266C>T COCA-CN 8 67551199 67551199 single base substitution C A intron_variant COCA-CN 8 67551201 67551201 single base substitution C A intron_variant COCA-CN 8 67551203 67551203 single base substitution C A intron_variant COCA-CN 8 67576861 67576861 single base substitution C T missense_variant R778Q 2333G>A COCA-CN 8 67577119 67577119 single base substitution A C missense_variant I692S 2075T>G COCA-CN 8 67578488 67578488 single base substitution G A missense_variant H236Y 706C>T COCA-CN 8 67581775 67581775 single base substitution G A upstream_gene_variant EOPC-DE 8 67565506 67565506 single base substitution G A intron_variant ESAD-UK 8 67537031 67537031 single base substitution G T downstream_gene_variant ESAD-UK 8 67537134 67537134 single base substitution T C downstream_gene_variant ESAD-UK 8 67539476 67539476 single base substitution T C downstream_gene_variant ESAD-UK 8 67541129 67541129 single base substitution G A 3_prime_UTR_variant ESAD-UK 8 67541719 67541719 single base substitution C G 3_prime_UTR_variant ESAD-UK 8 67544312 67544312 single base substitution A C 3_prime_UTR_variant ESAD-UK 8 67547641 67547641 single base substitution A C intron_variant ESAD-UK 8 67547807 67547807 single base substitution C T intron_variant ESAD-UK 8 67549758 67549758 single base substitution C T intron_variant ESAD-UK 8 67551202 67551202 insertion of <=200bp - TA intron_variant ESAD-UK 8 67551891 67551891 single base substitution A T intron_variant ESAD-UK 8 67552037 67552037 single base substitution G A intron_variant ESAD-UK 8 67554313 67554313 single base substitution C T intron_variant ESAD-UK 8 67555961 67555961 deletion of <=200bp A - intron_variant ESAD-UK 8 67558914 67558914 single base substitution C A intron_variant ESAD-UK 8 67559035 67559035 insertion of <=200bp - T intron_variant ESAD-UK 8 67559316 67559316 single base substitution G A intron_variant ESAD-UK 8 67561160 67561160 single base substitution C T intron_variant ESAD-UK 8 67562134 67562134 deletion of <=200bp A - intron_variant ESAD-UK 8 67564426 67564426 insertion of <=200bp - A intron_variant ESAD-UK 8 67565597 67565597 single base substitution T A intron_variant ESAD-UK 8 67566200 67566200 single base substitution G A intron_variant ESAD-UK 8 67566733 67566733 single base substitution C T intron_variant ESAD-UK 8 67569559 67569559 single base substitution A T intron_variant ESAD-UK 8 67570337 67570337 single base substitution C T intron_variant ESAD-UK 8 67570402 67570402 single base substitution C T intron_variant ESAD-UK 8 67572145 67572145 single base substitution C G intron_variant ESAD-UK 8 67572489 67572489 single base substitution C G intron_variant ESAD-UK 8 67577098 67577098 single base substitution G A missense_variant T699I 2096C>T ESAD-UK 8 67577656 67577656 single base substitution T C missense_variant N513S 1538A>G ESAD-UK 8 67578684 67578684 single base substitution T G synonymous_variant I170I 510A>C ESAD-UK 8 67579591 67579591 single base substitution A C upstream_gene_variant ESAD-UK 8 67579606 67579606 single base substitution A T upstream_gene_variant ESAD-UK 8 67579701 67579701 single base substitution T G upstream_gene_variant ESAD-UK 8 67579706 67579706 single base substitution C T upstream_gene_variant ESAD-UK 8 67580564 67580564 single base substitution G A upstream_gene_variant ESAD-UK 8 67581203 67581203 single base substitution G A upstream_gene_variant ESCA-CN 8 67576626 67576626 single base substitution T G missense_variant E856D 2568A>C ESCA-CN 8 67577137 67577137 single base substitution G A missense_variant S686F 2057C>T ESCA-CN 8 67578994 67578994 single base substitution C A missense_variant S67I 200G>T GBM-US 8 67546807 67546807 single base substitution C A stop_gained E1200* 3598G>T KIRC-US 8 67546928 67546928 single base substitution T C synonymous_variant E1159E 3477A>G KIRC-US 8 67546975 67546980 deletion of <=200bp CAACTT - disruptive_inframe_deletion EVV1142V KIRC-US 8 67576661 67576661 single base substitution T G synonymous_variant R845R 2533A>C KIRC-US 8 67578932 67578932 single base substitution C A missense_variant V88L 262G>T KIRC-US 8 67578933 67578933 single base substitution C G missense_variant E87D 261G>C KIRP-US 8 67577113 67577113 single base substitution A G missense_variant L694P 2081T>C LAML-KR 8 67537514 67537514 single base substitution C T downstream_gene_variant LICA-CN 8 67577642 67577642 single base substitution A C missense_variant S518A 1552T>G LICA-FR 8 67539830 67539830 single base substitution T C downstream_gene_variant LICA-FR 8 67543576 67543576 single base substitution C G 3_prime_UTR_variant LICA-FR 8 67558308 67558308 deletion of <=200bp T - intron_variant LICA-FR 8 67559732 67559732 single base substitution C A intron_variant LICA-FR 8 67560762 67560773 deletion of <=200bp ATCTATCTATCT - intron_variant LICA-FR 8 67577653 67577653 single base substitution T C missense_variant N514S 1541A>G LINC-JP 8 67537300 67537300 single base substitution C T downstream_gene_variant LINC-JP 8 67542906 67542906 single base substitution T C 3_prime_UTR_variant LINC-JP 8 67547592 67547592 single base substitution T C missense_variant K938R 2813A>G LINC-JP 8 67551997 67551997 single base substitution T C intron_variant LINC-JP 8 67554787 67554787 single base substitution C A intron_variant LINC-JP 8 67557994 67557994 single base substitution C A intron_variant LINC-JP 8 67566454 67566454 single base substitution T C intron_variant LINC-JP 8 67573385 67573385 insertion of <=200bp - A intron_variant LINC-JP 8 67577658 67577658 single base substitution C T synonymous_variant L512L 1536G>A LINC-JP 8 67577979 67577979 single base substitution C A missense_variant L405F 1215G>T LIRI-JP 8 67538501 67538501 single base substitution A G downstream_gene_variant LIRI-JP 8 67540043 67540043 single base substitution A G downstream_gene_variant LIRI-JP 8 67542009 67542009 single base substitution G A 3_prime_UTR_variant LIRI-JP 8 67545122 67545122 single base substitution A T 3_prime_UTR_variant LIRI-JP 8 67545593 67545593 single base substitution T C 3_prime_UTR_variant LIRI-JP 8 67545742 67545742 single base substitution G C 3_prime_UTR_variant LIRI-JP 8 67547643 67547643 single base substitution C G intron_variant LIRI-JP 8 67549743 67549743 single base substitution A T intron_variant LIRI-JP 8 67550538 67550538 single base substitution T C intron_variant LIRI-JP 8 67550813 67550813 single base substitution G T intron_variant LIRI-JP 8 67551516 67551516 single base substitution G A intron_variant LIRI-JP 8 67556566 67556566 single base substitution C T intron_variant LIRI-JP 8 67556637 67556637 single base substitution C G intron_variant LIRI-JP 8 67559824 67559824 single base substitution C A intron_variant LIRI-JP 8 67566936 67566936 single base substitution T C intron_variant LIRI-JP 8 67572200 67572200 single base substitution T C intron_variant LIRI-JP 8 67576301 67576301 single base substitution T C intron_variant LIRI-JP 8 67576742 67576742 single base substitution G A stop_gained R818* 2452C>T LIRI-JP 8 67577177 67577177 single base substitution C T missense_variant A673T 2017G>A LIRI-JP 8 67580893 67580893 single base substitution G A upstream_gene_variant LIRI-JP 8 67582270 67582270 single base substitution A G upstream_gene_variant LIRI-JP 8 67582966 67582966 single base substitution A G upstream_gene_variant LIRI-JP 8 67584220 67584220 single base substitution T G upstream_gene_variant LIRI-JP 8 67584378 67584378 single base substitution A G upstream_gene_variant LUSC-KR 8 67536377 67536377 single base substitution G A downstream_gene_variant LUSC-KR 8 67539518 67539518 single base substitution C G downstream_gene_variant LUSC-KR 8 67542603 67542603 single base substitution C T 3_prime_UTR_variant LUSC-KR 8 67548453 67548453 single base substitution C A intron_variant LUSC-KR 8 67558962 67558962 single base substitution G A intron_variant LUSC-KR 8 67559373 67559373 single base substitution C A intron_variant LUSC-KR 8 67561906 67561906 single base substitution T C intron_variant LUSC-KR 8 67565375 67565375 single base substitution C G intron_variant LUSC-KR 8 67565655 67565655 single base substitution C T intron_variant LUSC-KR 8 67565856 67565856 single base substitution C T intron_variant LUSC-KR 8 67568686 67568686 single base substitution C A intron_variant LUSC-KR 8 67572961 67572961 single base substitution T C intron_variant LUSC-KR 8 67580254 67580254 single base substitution C G upstream_gene_variant LUSC-KR 8 67580724 67580724 single base substitution C T upstream_gene_variant LUSC-KR 8 67580832 67580832 single base substitution C G upstream_gene_variant LUSC-KR 8 67581679 67581679 single base substitution C G upstream_gene_variant LUSC-KR 8 67582825 67582825 single base substitution A G upstream_gene_variant LUSC-US 8 67547090 67547090 single base substitution C T synonymous_variant Q1105Q 3315G>A LUSC-US 8 67547206 67547206 single base substitution T C missense_variant T1067A 3199A>G LUSC-US 8 67547217 67547217 single base substitution C A missense_variant S1063I 3188G>T LUSC-US 8 67547363 67547363 single base substitution C G missense_variant K1014N 3042G>C LUSC-US 8 67547539 67547539 single base substitution C G missense_variant E956Q 2866G>C LUSC-US 8 67577946 67577946 single base substitution A G synonymous_variant A416A 1248T>C LUSC-US 8 67578320 67578320 single base substitution T C missense_variant I292V 874A>G LUSC-US 8 67578502 67578502 single base substitution C T missense_variant R231Q 692G>A LUSC-US 8 67578617 67578617 single base substitution C T missense_variant D193N 577G>A LUSC-US 8 67579091 67579091 single base substitution C A missense_variant G35W 103G>T LUSC-US 8 67579132 67579132 single base substitution G A missense_variant P21L 62C>T MALY-DE 8 67538966 67538966 single base substitution G A downstream_gene_variant MALY-DE 8 67539999 67539999 single base substitution T C downstream_gene_variant MALY-DE 8 67540859 67540859 single base substitution A G 3_prime_UTR_variant MALY-DE 8 67547944 67547944 single base substitution C G intron_variant MALY-DE 8 67551201 67551201 single base substitution C A intron_variant MALY-DE 8 67551209 67551209 single base substitution A C intron_variant MELA-AU 8 67535908 67535908 single base substitution T A downstream_gene_variant MELA-AU 8 67535917 67535917 single base substitution G A downstream_gene_variant MELA-AU 8 67535947 67535947 single base substitution T C downstream_gene_variant MELA-AU 8 67536376 67536376 single base substitution G A downstream_gene_variant MELA-AU 8 67537595 67537595 single base substitution C T downstream_gene_variant MELA-AU 8 67537776 67537776 single base substitution C T downstream_gene_variant MELA-AU 8 67538059 67538059 single base substitution A G downstream_gene_variant MELA-AU 8 67538732 67538732 single base substitution G A downstream_gene_variant MELA-AU 8 67538785 67538785 deletion of <=200bp A - downstream_gene_variant MELA-AU 8 67538886 67538886 single base substitution G A downstream_gene_variant MELA-AU 8 67538979 67538979 single base substitution C T downstream_gene_variant MELA-AU 8 67539260 67539260 single base substitution C T downstream_gene_variant MELA-AU 8 67539704 67539704 single base substitution C T downstream_gene_variant MELA-AU 8 67539723 67539723 single base substitution G A downstream_gene_variant MELA-AU 8 67540994 67540994 single base substitution G A 3_prime_UTR_variant MELA-AU 8 67542174 67542174 single base substitution G A 3_prime_UTR_variant MELA-AU 8 67542994 67542994 single base substitution G A 3_prime_UTR_variant MELA-AU 8 67543140 67543140 single base substitution G A 3_prime_UTR_variant MELA-AU 8 67543231 67543231 single base substitution A G 3_prime_UTR_variant MELA-AU 8 67543241 67543241 single base substitution G A 3_prime_UTR_variant MELA-AU 8 67543737 67543737 single base substitution G A 3_prime_UTR_variant MELA-AU 8 67544581 67544581 single base substitution A C 3_prime_UTR_variant MELA-AU 8 67546361 67546361 single base substitution G A 3_prime_UTR_variant MELA-AU 8 67546812 67546812 single base substitution G A missense_variant S1198F 3593C>T MELA-AU 8 67547158 67547158 single base substitution G A stop_gained R1083* 3247C>T MELA-AU 8 67547618 67547618 single base substitution G A intron_variant MELA-AU 8 67547692 67547692 single base substitution G A intron_variant MELA-AU 8 67548067 67548067 single base substitution G A intron_variant MELA-AU 8 67548433 67548433 single base substitution C T intron_variant MELA-AU 8 67549869 67549869 single base substitution G A intron_variant MELA-AU 8 67550435 67550435 single base substitution T C intron_variant MELA-AU 8 67550743 67550744 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 67550928 67550928 single base substitution G A intron_variant MELA-AU 8 67550958 67550958 single base substitution G T intron_variant MELA-AU 8 67551201 67551201 single base substitution C A intron_variant MELA-AU 8 67551203 67551203 single base substitution C A intron_variant MELA-AU 8 67551207 67551207 single base substitution A C intron_variant MELA-AU 8 67552035 67552035 single base substitution A C intron_variant MELA-AU 8 67552408 67552408 single base substitution G A intron_variant MELA-AU 8 67553032 67553032 single base substitution C G intron_variant MELA-AU 8 67554053 67554053 single base substitution C T intron_variant MELA-AU 8 67556666 67556666 deletion of <=200bp A - intron_variant MELA-AU 8 67556948 67556948 single base substitution G A intron_variant MELA-AU 8 67558764 67558765 multiple base substitution (>=2bp and <=200bp) TT GG intron_variant MELA-AU 8 67558868 67558868 single base substitution G A intron_variant MELA-AU 8 67559459 67559459 single base substitution C G intron_variant MELA-AU 8 67559708 67559708 single base substitution G A intron_variant MELA-AU 8 67559899 67559899 single base substitution G A intron_variant MELA-AU 8 67560064 67560064 single base substitution G A intron_variant MELA-AU 8 67560371 67560371 single base substitution G A intron_variant MELA-AU 8 67561296 67561297 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 67562562 67562562 single base substitution G A intron_variant MELA-AU 8 67564369 67564369 single base substitution G A intron_variant MELA-AU 8 67565832 67565832 single base substitution G A intron_variant MELA-AU 8 67566886 67566886 single base substitution G A intron_variant MELA-AU 8 67567070 67567070 single base substitution T G intron_variant MELA-AU 8 67567418 67567418 single base substitution T A intron_variant MELA-AU 8 67568354 67568354 single base substitution A G intron_variant MELA-AU 8 67568841 67568841 single base substitution A T intron_variant MELA-AU 8 67569897 67569897 single base substitution G A intron_variant MELA-AU 8 67570087 67570087 single base substitution C T intron_variant MELA-AU 8 67570095 67570095 single base substitution G A intron_variant MELA-AU 8 67570690 67570690 single base substitution A G intron_variant MELA-AU 8 67570960 67570960 single base substitution G A intron_variant MELA-AU 8 67571245 67571245 single base substitution A G intron_variant MELA-AU 8 67571480 67571480 single base substitution G A intron_variant MELA-AU 8 67572166 67572166 single base substitution A G intron_variant MELA-AU 8 67572498 67572498 single base substitution G A intron_variant MELA-AU 8 67573059 67573059 single base substitution C A intron_variant MELA-AU 8 67575628 67575628 single base substitution C T intron_variant MELA-AU 8 67576087 67576087 single base substitution G A intron_variant MELA-AU 8 67576763 67576763 single base substitution G A missense_variant P811S 2431C>T MELA-AU 8 67576944 67576944 single base substitution G A synonymous_variant T750T 2250C>T MELA-AU 8 67578116 67578116 single base substitution C T missense_variant G360S 1078G>A MELA-AU 8 67578462 67578462 single base substitution C T synonymous_variant Q244Q 732G>A MELA-AU 8 67579142 67579142 single base substitution G A missense_variant P18S 52C>T MELA-AU 8 67579321 67579321 single base substitution C T 5_prime_UTR_variant MELA-AU 8 67579507 67579507 single base substitution C T upstream_gene_variant MELA-AU 8 67579565 67579565 single base substitution G A upstream_gene_variant MELA-AU 8 67579566 67579566 single base substitution G A upstream_gene_variant MELA-AU 8 67579576 67579576 single base substitution C T upstream_gene_variant MELA-AU 8 67579582 67579582 single base substitution G A upstream_gene_variant MELA-AU 8 67579583 67579583 single base substitution G A upstream_gene_variant MELA-AU 8 67579613 67579613 single base substitution C T upstream_gene_variant MELA-AU 8 67579615 67579615 single base substitution G A upstream_gene_variant MELA-AU 8 67579623 67579623 single base substitution G A upstream_gene_variant MELA-AU 8 67579632 67579632 single base substitution G A upstream_gene_variant MELA-AU 8 67579635 67579635 single base substitution G A upstream_gene_variant MELA-AU 8 67579649 67579649 single base substitution G A upstream_gene_variant MELA-AU 8 67579656 67579656 single base substitution G A upstream_gene_variant MELA-AU 8 67579659 67579659 single base substitution G A upstream_gene_variant MELA-AU 8 67579677 67579677 single base substitution C T upstream_gene_variant MELA-AU 8 67579713 67579713 single base substitution C T upstream_gene_variant MELA-AU 8 67579719 67579719 single base substitution C T upstream_gene_variant MELA-AU 8 67579728 67579728 single base substitution C T upstream_gene_variant MELA-AU 8 67579731 67579731 single base substitution C T upstream_gene_variant MELA-AU 8 67579856 67579856 single base substitution T A upstream_gene_variant MELA-AU 8 67579865 67579865 single base substitution G A upstream_gene_variant MELA-AU 8 67580591 67580591 single base substitution G A upstream_gene_variant MELA-AU 8 67581390 67581390 single base substitution G A upstream_gene_variant MELA-AU 8 67582334 67582334 single base substitution C T upstream_gene_variant MELA-AU 8 67582541 67582541 single base substitution C T upstream_gene_variant MELA-AU 8 67582862 67582862 single base substitution C T upstream_gene_variant MELA-AU 8 67583162 67583162 single base substitution G A upstream_gene_variant MELA-AU 8 67583331 67583331 single base substitution T A upstream_gene_variant MELA-AU 8 67583425 67583425 single base substitution T C upstream_gene_variant MELA-AU 8 67583661 67583661 single base substitution C T upstream_gene_variant MELA-AU 8 67583859 67583859 single base substitution C T upstream_gene_variant ORCA-IN 8 67539508 67539508 single base substitution G A downstream_gene_variant ORCA-IN 8 67560802 67560802 single base substitution A G intron_variant ORCA-IN 8 67560806 67560806 single base substitution A G intron_variant ORCA-IN 8 67569676 67569676 single base substitution C G intron_variant ORCA-IN 8 67581394 67581394 single base substitution A G upstream_gene_variant OV-AU 8 67535906 67535906 single base substitution A G downstream_gene_variant OV-AU 8 67537190 67537190 single base substitution A G downstream_gene_variant OV-AU 8 67545593 67545593 single base substitution T C 3_prime_UTR_variant OV-AU 8 67547339 67547339 single base substitution T A synonymous_variant V1022V 3066A>T OV-AU 8 67555656 67555656 single base substitution G T intron_variant OV-AU 8 67556858 67556858 single base substitution C A intron_variant OV-AU 8 67559152 67559152 single base substitution C G intron_variant OV-AU 8 67562341 67562341 single base substitution C G intron_variant OV-AU 8 67567832 67567832 single base substitution A G intron_variant OV-AU 8 67570468 67570468 single base substitution C T intron_variant OV-AU 8 67574150 67574150 single base substitution C A intron_variant OV-AU 8 67575005 67575005 single base substitution C G intron_variant OV-AU 8 67579722 67579722 single base substitution C A upstream_gene_variant OV-AU 8 67581280 67581280 single base substitution C A upstream_gene_variant OV-US 8 67577186 67577186 single base substitution C A missense_variant G670C 2008G>T PACA-AU 8 67540221 67540221 single base substitution T C downstream_gene_variant PACA-AU 8 67541765 67541765 single base substitution G A 3_prime_UTR_variant PACA-AU 8 67542911 67542911 single base substitution G C 3_prime_UTR_variant PACA-AU 8 67550031 67550031 single base substitution C A intron_variant PACA-AU 8 67565627 67565627 single base substitution T G intron_variant PACA-AU 8 67571607 67571607 deletion of <=200bp A - intron_variant PACA-AU 8 67574624 67574624 single base substitution A G intron_variant PACA-AU 8 67579356 67579356 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 8 67580255 67580255 single base substitution T G upstream_gene_variant PACA-CA 8 67548932 67548932 single base substitution T A intron_variant PACA-CA 8 67550865 67550865 single base substitution T A intron_variant PACA-CA 8 67551148 67551148 single base substitution G A intron_variant PACA-CA 8 67551207 67551207 single base substitution A C intron_variant PACA-CA 8 67553272 67553272 single base substitution C T intron_variant PACA-CA 8 67554939 67554939 single base substitution G A intron_variant PACA-CA 8 67557307 67557307 single base substitution C T intron_variant PACA-CA 8 67558755 67558755 single base substitution G T intron_variant PACA-CA 8 67564646 67564646 single base substitution C G intron_variant PACA-CA 8 67567670 67567670 single base substitution T C intron_variant PACA-CA 8 67568096 67568096 single base substitution A G intron_variant PACA-CA 8 67572979 67572979 single base substitution T A intron_variant PACA-CA 8 67573608 67573608 single base substitution C T intron_variant PACA-CA 8 67575879 67575879 single base substitution C T intron_variant PACA-CA 8 67578495 67578495 single base substitution G A synonymous_variant L233L 699C>T PACA-CA 8 67579520 67579520 single base substitution T C upstream_gene_variant PACA-CA 8 67580127 67580127 single base substitution A G upstream_gene_variant PACA-CA 8 67580725 67580725 single base substitution A T upstream_gene_variant PAEN-AU 8 67549754 67549754 single base substitution A G intron_variant PBCA-DE 8 67546638 67546638 single base substitution C T 3_prime_UTR_variant PBCA-DE 8 67555649 67555649 single base substitution T A intron_variant PBCA-DE 8 67565451 67565451 single base substitution A G intron_variant PBCA-DE 8 67568281 67568281 single base substitution G C intron_variant PBCA-DE 8 67583826 67583826 single base substitution G A upstream_gene_variant PRAD-CA 8 67549404 67549404 single base substitution T A intron_variant PRAD-CA 8 67551203 67551203 single base substitution C A intron_variant PRAD-CA 8 67551205 67551205 single base substitution C A intron_variant PRAD-CA 8 67558967 67558967 single base substitution A G intron_variant PRAD-CA 8 67571335 67571335 single base substitution C T intron_variant PRAD-CA 8 67575349 67575349 single base substitution G A intron_variant PRAD-UK 8 67545857 67545857 deletion of <=200bp A - 3_prime_UTR_variant PRAD-UK 8 67551677 67551680 deletion of <=200bp CCTC - intron_variant PRAD-UK 8 67566730 67566730 single base substitution T C intron_variant PRAD-US 8 67577666 67577666 single base substitution A G missense_variant F510L 1528T>C PRAD-US 8 67578194 67578194 insertion of <=200bp - A frameshift_variant G334V? PRAD-US 8 67578649 67578649 single base substitution T C missense_variant K182R 545A>G PRAD-US 8 67579179 67579179 single base substitution C A synonymous_variant P5P 15G>T READ-US 8 67547158 67547158 single base substitution G A stop_gained R1083* 3247C>T READ-US 8 67577817 67577817 deletion of <=200bp T - frameshift_variant K459 READ-US 8 67579047 67579047 single base substitution G A synonymous_variant C49C 147C>T RECA-EU 8 67541052 67541052 single base substitution T C 3_prime_UTR_variant RECA-EU 8 67546954 67546954 single base substitution C T missense_variant G1151R 3451G>A RECA-EU 8 67549463 67549463 single base substitution A G intron_variant RECA-EU 8 67567810 67567810 single base substitution G C intron_variant RECA-EU 8 67581102 67581102 single base substitution T C upstream_gene_variant SKCA-BR 8 67535935 67535935 single base substitution C T downstream_gene_variant SKCA-BR 8 67544319 67544319 single base substitution C A 3_prime_UTR_variant SKCA-BR 8 67547861 67547861 single base substitution G A intron_variant SKCA-BR 8 67550572 67550572 single base substitution A T intron_variant SKCA-BR 8 67550789 67550789 single base substitution T G intron_variant SKCA-BR 8 67551205 67551205 single base substitution C A intron_variant SKCA-BR 8 67558071 67558071 single base substitution T G intron_variant SKCA-BR 8 67560761 67560761 insertion of <=200bp - AATCT intron_variant SKCA-BR 8 67564337 67564337 single base substitution A G intron_variant SKCA-BR 8 67564354 67564354 single base substitution A G intron_variant SKCA-BR 8 67564862 67564862 single base substitution G A intron_variant SKCA-BR 8 67569615 67569615 single base substitution T C intron_variant SKCA-BR 8 67570706 67570706 single base substitution C T intron_variant SKCA-BR 8 67573535 67573537 deletion of <=200bp GAT - intron_variant SKCA-BR 8 67574594 67574594 single base substitution G A intron_variant SKCA-BR 8 67576424 67576424 single base substitution G A intron_variant SKCA-BR 8 67579576 67579576 single base substitution C T upstream_gene_variant SKCA-BR 8 67579583 67579583 single base substitution G A upstream_gene_variant SKCA-BR 8 67579659 67579659 single base substitution G A upstream_gene_variant SKCA-BR 8 67579715 67579715 single base substitution C T upstream_gene_variant SKCA-BR 8 67581593 67581593 single base substitution T A upstream_gene_variant SKCA-BR 8 67582502 67582502 single base substitution T A upstream_gene_variant SKCM-US 8 67546931 67546931 single base substitution A G synonymous_variant P1158P 3474T>C SKCM-US 8 67547092 67547092 single base substitution G A stop_gained Q1105* 3313C>T SKCM-US 8 67547093 67547093 single base substitution G A synonymous_variant A1104A 3312C>T SKCM-US 8 67547158 67547158 single base substitution G A stop_gained R1083* 3247C>T SKCM-US 8 67547298 67547298 single base substitution G A missense_variant S1036F 3107C>T SKCM-US 8 67576730 67576730 single base substitution G A missense_variant P822S 2464C>T SKCM-US 8 67577010 67577010 single base substitution C G missense_variant Q728H 2184G>C SKCM-US 8 67577418 67577418 single base substitution G A synonymous_variant F592F 1776C>T SKCM-US 8 67578227 67578227 single base substitution G C missense_variant L323V 967C>G SKCM-US 8 67578269 67578269 single base substitution G A missense_variant L309F 925C>T SKCM-US 8 67578462 67578462 single base substitution C T synonymous_variant Q244Q 732G>A SKCM-US 8 67578798 67578798 single base substitution G A synonymous_variant P132P 396C>T STAD-US 8 67546767 67546767 single base substitution G T missense_variant T1213N 3638C>A STAD-US 8 67547088 67547088 single base substitution C T missense_variant R1106Q 3317G>A STAD-US 8 67547095 67547095 single base substitution C T missense_variant A1104T 3310G>A STAD-US 8 67547317 67547317 single base substitution G C missense_variant H1030D 3088C>G STAD-US 8 67563711 67563711 single base substitution T A missense_variant I927F 2779A>T STAD-US 8 67577032 67577032 single base substitution G A missense_variant T721M 2162C>T STAD-US 8 67577294 67577294 single base substitution A C missense_variant F634V 1900T>G STAD-US 8 67577516 67577516 single base substitution C T missense_variant G560R 1678G>A STAD-US 8 67577533 67577533 single base substitution G C missense_variant S554C 1661C>G STAD-US 8 67577678 67577678 single base substitution T C missense_variant K506E 1516A>G STAD-US 8 67577705 67577705 single base substitution T C missense_variant S497G 1489A>G STAD-US 8 67578033 67578033 single base substitution C T synonymous_variant K387K 1161G>A STAD-US 8 67578046 67578046 single base substitution T C missense_variant D383G 1148A>G STAD-US 8 67578127 67578127 single base substitution A G missense_variant I356T 1067T>C STAD-US 8 67578740 67578740 single base substitution T A missense_variant M152L 454A>T STAD-US 8 67578876 67578876 single base substitution A G synonymous_variant V106V 318T>C THCA-US 8 67579177 67579177 single base substitution G A missense_variant P6L 17C>T UCEC-US 8 67546885 67546885 single base substitution T C missense_variant T1174A 3520A>G UCEC-US 8 67546968 67546968 single base substitution G A missense_variant S1146F 3437C>T UCEC-US 8 67546968 67546968 single base substitution G T missense_variant S1146Y 3437C>A UCEC-US 8 67547428 67547428 single base substitution T G synonymous_variant R993R 2977A>C UCEC-US 8 67576551 67576551 single base substitution T C synonymous_variant S881S 2643A>G UCEC-US 8 67576599 67576599 single base substitution T C synonymous_variant S865S 2595A>G UCEC-US 8 67576776 67576776 single base substitution T C synonymous_variant R806R 2418A>G UCEC-US 8 67577001 67577001 single base substitution T C synonymous_variant K731K 2193A>G UCEC-US 8 67577076 67577078 deletion of <=200bp CTC - inframe_deletion E706 UCEC-US 8 67577214 67577214 single base substitution G A synonymous_variant P660P 1980C>T UCEC-US 8 67577309 67577309 single base substitution G T missense_variant L629I 1885C>A UCEC-US 8 67577312 67577312 single base substitution T C missense_variant K628E 1882A>G UCEC-US 8 67577454 67577454 single base substitution C A missense_variant W580C 1740G>T UCEC-US 8 67577571 67577571 single base substitution G A synonymous_variant C541C 1623C>T UCEC-US 8 67577934 67577934 single base substitution G T synonymous_variant V420V 1260C>A UCEC-US 8 67577963 67577963 single base substitution G T missense_variant L411I 1231C>A UCEC-US 8 67578218 67578218 single base substitution G A missense_variant L326F 976C>T UCEC-US 8 67578664 67578664 single base substitution G A missense_variant T177I 530C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-21-1081-01 COSM750960 c.3188G>T p.S1063I Substitution - Missense 8:66634982-66634982 - 1946219 COSM96282 c.567G>C p.L189L Substitution - coding silent 8:66666392-66666392 - TCGA-D3-A2JO-06 COSM3650292 c.2184G>C p.Q728H Substitution - Missense 8:66664775-66664775 - TCGA-KK-A6E0-01 COSM4876802 c.15G>T p.P5P Substitution - coding silent 8:66666944-66666944 - TCGA-DK-A2I4-01 COSM3779311 c.2806G>A p.D936N Substitution - Missense 8:66635364-66635364 - TCGA-DK-A1AC-01 COSM1314151 c.1728C>T p.F576F Substitution - coding silent 8:66665231-66665231 - TCGA-AA-A01D-01 COSM5121414 c.1729A>T p.K577* Substitution - Nonsense 8:66665230-66665230 - TCGA-13-0924-01 COSM76987 c.2008G>T p.G670C Substitution - Missense 8:66664951-66664951 - TCGA-B0-4697-01 COSM3367393 c.2533A>C p.R845R Substitution - coding silent 8:66664426-66664426 - CHC1597T COSM4787755 c.1541A>G p.N514S Substitution - Missense 8:66665418-66665418 - TCGA-AO-A03O-01 COSM4612230 c.105_106insG p.L36fs*51 Insertion - Frameshift 8:66666853-66666854 - BN40 COSM1624137 c.1536G>A p.L512L Substitution - coding silent 8:66665423-66665423 - TCGA-GN-A266-06 COSM3650290 c.3107C>T p.S1036F Substitution - Missense 8:66635063-66635063 - TCGA-CG-5723-01 COSM3901058 c.3317G>A p.R1106Q Substitution - Missense 8:66634853-66634853 - MCF7 COSM1673939 c.1043G>T p.S348I Substitution - Missense 8:66665916-66665916 - TCGA-BH-A0B6-01 COSM3834919 c.2787G>A p.K929K Substitution - coding silent 8:66651468-66651468 - T351 COSM4740256 c.2282C>T p.T761I Substitution - Missense 8:66664677-66664677 - TCGA-EE-A29B-06 COSM3650289 c.3312C>T p.A1104A Substitution - coding silent 8:66634858-66634858 - TCGA-A2-A3Y0-01 COSM3834918 c.3342T>G p.S1114S Substitution - coding silent 8:66634828-66634828 - HX35T COSM1624136 c.2813A>G p.K938R Substitution - Missense 8:66635357-66635357 - TCGA-60-2722-01 COSM750951 c.62C>T p.P21L Substitution - Missense 8:66666897-66666897 - sysucc-1397T COSM5475191 c.706C>T p.H236Y Substitution - Missense 8:66666253-66666253 - ATL054 COSM5710997 c.1366G>A p.A456T Substitution - Missense 8:66665593-66665593 - HN_62506 COSM95507 c.1111A>G p.M371V Substitution - Missense 8:66665848-66665848 - 112479 COSM95507 c.1111A>G p.M371V Substitution - Missense 8:66665848-66665848 - TCGA-BJ-A45E-01 COSM3374966 c.17C>T p.P6L Substitution - Missense 8:66666942-66666942 - TCGA-AZ-4315-01 COSM1457866 c.3316C>T p.R1106* Substitution - Nonsense 8:66634854-66634854 - ESCC_125 COSM5641180 c.1251G>A p.M417I Substitution - Missense 8:66665708-66665708 - TCGA-IN-8663-01 COSM3901067 c.1489A>G p.S497G Substitution - Missense 8:66665470-66665470 - cSCCP5 COSM137956 c.2297C>T p.P766L Substitution - Missense 8:66664662-66664662 - TCGA-AZ-4315-01 COSM1457865 c.3469T>G p.L1157V Substitution - Missense 8:66634701-66634701 - TCGA-BR-4361-01 COSM3901070 c.1067T>C p.I356T Substitution - Missense 8:66665892-66665892 - LB1047-RCC COSM25287 c.106_107insG p.L36fs*51 Insertion - Frameshift 8:66666852-66666853 - TCGA-AP-A051-01 COSM1101108 c.1882A>G p.K628E Substitution - Missense 8:66665077-66665077 - CSCC-62-T COSM4468214 c.1532C>T p.P511L Substitution - Missense 8:66665427-66665427 - H650 COSM1194798 c.1118T>C p.L373S Substitution - Missense 8:66665841-66665841 - ESO-021 COSM1270183 c.773A>G p.H258R Substitution - Missense 8:66666186-66666186 - TCGA-BS-A0UF-01 COSM1101112 c.1231C>A p.L411I Substitution - Missense 8:66665728-66665728 - TCGA-A4-8311-01 COSM3996105 c.2081T>C p.L694P Substitution - Missense 8:66664878-66664878 - TCGA-HU-8602-01 COSM3901060 c.3088C>G p.H1030D Substitution - Missense 8:66635082-66635082 - T2959 COSM4740257 c.1999A>C p.N667H Substitution - Missense 8:66664960-66664960 - 4760_PT COSM5757238 c.1160A>G p.K387R Substitution - Missense 8:66665799-66665799 - TCGA-BR-8081-01 COSM3901066 c.1516A>G p.K506E Substitution - Missense 8:66665443-66665443 - ATL017 COSM5710998 c.794A>G p.E265G Substitution - Missense 8:66666165-66666165 - TCGA-BR-4363-01 COSM3901059 c.3310G>A p.A1104T Substitution - Missense 8:66634860-66634860 - T3021 COSM4740255 c.2945C>T p.A982V Substitution - Missense 8:66635225-66635225 - TCGA-LP-A4AW-01 COSM4829697 c.2473G>T p.E825* Substitution - Nonsense 8:66664486-66664486 - 587332 COSM278073 c.2353C>T p.R785* Substitution - Nonsense 8:66664606-66664606 - TCGA-CD-8536-01 COSM3901069 c.1148A>G p.D383G Substitution - Missense 8:66665811-66665811 - TCGA-60-2698-01 COSM750961 c.3199A>G p.T1067A Substitution - Missense 8:66634971-66634971 - TCGA-D1-A0ZS-01 COSM1101105 c.2116_2118delGAG p.E706delE Deletion - In frame 8:66664841-66664843 - 107049 COSM95506 c.1429G>A p.E477K Substitution - Missense 8:66665530-66665530 - WA60 COSM242218 c.1156A>T p.K386* Substitution - Nonsense 8:66665803-66665803 - PT52 COSM5939879 c.2398C>T p.L800F Substitution - Missense 8:66664561-66664561 - TCGA-EA-A50E-01 COSM4822148 c.2841C>A p.G947G Substitution - coding silent 8:66635329-66635329 - TCGA-21-5786-01 COSM750952 c.103G>T p.G35W Substitution - Missense 8:66666856-66666856 - TCGA-EB-A4OZ-01 COSM3650287 c.3474T>C p.P1158P Substitution - coding silent 8:66634696-66634696 - HCC1 COSM1624138 c.1215G>T p.L405F Substitution - Missense 8:66665744-66665744 - Pat_41_B COSM5874891 c.988G>A p.E330K Substitution - Missense 8:66665971-66665971 - ESCC_10 COSM5624034 c.2542A>G p.I848V Substitution - Missense 8:66664417-66664417 - TCGA-34-2596-01 COSM750962 c.3315G>A p.Q1105Q Substitution - coding silent 8:66634855-66634855 - ESCC-183T COSM3942712 c.2568A>C p.E856D Substitution - Missense 8:66664391-66664391 - TCGA-EK-A3GJ-01 COSM4852351 c.2920G>C p.D974H Substitution - Missense 8:66635250-66635250 - PD4937a COSM165479 c.2038C>G p.Q680E Substitution - Missense 8:66664921-66664921 - B10-Tumor COSM253883 c.465C>T p.G155G Substitution - coding silent 8:66666494-66666494 - TCGA-AP-A0LM-01 COSM1101111 c.1260C>A p.V420V Substitution - coding silent 8:66665699-66665699 - CSCC-31-T COSM4532292 c.1870G>T p.D624Y Substitution - Missense 8:66665089-66665089 - HCC019T COSM5820357 c.1552T>G p.S518A Substitution - Missense 8:66665407-66665407 - Br27P COSM40744 c.3601G>A p.E1201K Substitution - Missense 8:66634569-66634569 - QC2-42-T2 COSM5656223 c.516A>T p.P172P Substitution - coding silent 8:66666443-66666443 - TCGA-25-1326-01 COSM73250 c.1438G>C p.V480L Substitution - Missense 8:66665521-66665521 - TCGA-FW-A3R5-06 COSM3925475 c.396C>T p.P132P Substitution - coding silent 8:66666563-66666563 - TCGA-AX-A0J0-01 COSM1101097 c.3437C>A p.S1146Y Substitution - Missense 8:66634733-66634733 - TCGA-AP-A051-01 COSM1101109 c.1740G>T p.W580C Substitution - Missense 8:66665219-66665219 - TCGA-DK-A3WW-01 COSM3779313 c.2534G>A p.R845K Substitution - Missense 8:66664425-66664425 - TCGA-39-5031-01 COSM750959 c.3042G>C p.K1014N Substitution - Missense 8:66635128-66635128 - 587376 COSM1232242 c.2772C>A p.F924L Substitution - Missense 8:66651483-66651483 - SC_9096 COSM5555606 c.1462G>C p.G488R Substitution - Missense 8:66665497-66665497 - ESCC-190T COSM3942714 c.200G>T p.S67I Substitution - Missense 8:66666759-66666759 - 587376 COSM1232243 c.2519T>G p.L840* Substitution - Nonsense 8:66664440-66664440 - ESCC-D21 COSM5046072 c.692G>C p.R231P Substitution - Missense 8:66666267-66666267 - TCGA-B6-A0I9-01 COSM454757 c.3063C>T p.N1021N Substitution - coding silent 8:66635107-66635107 - 85 COSM5014797 c.71C>T p.P24L Substitution - Missense 8:66666888-66666888 - PD4937a COSM165480 c.870C>G p.I290M Substitution - Missense 8:66666089-66666089 - sysucc-311T COSM5467481 c.2333G>A p.R778Q Substitution - Missense 8:66664626-66664626 - 2290930 COSM4440165 c.325delG p.A109fs*9 Deletion - Frameshift 8:66666634-66666634 - TCGA-60-2712-01 COSM750954 c.692G>A p.R231Q Substitution - Missense 8:66666267-66666267 - TCGA-NH-A5IV-01 COSM4740256 c.2282C>T p.T761I Substitution - Missense 8:66664677-66664677 - TCGA-B5-A11E-01 COSM1101107 c.1885C>A p.L629I Substitution - Missense 8:66665074-66665074 - TCGA-B0-5119-01 COSM1137892 c.261_262GG>CT p.E87_V88>DL Complex - compound substitution 8:66666697-66666698 - PD8973a COSM5799101 c.1847C>T p.S616L Substitution - Missense 8:66665112-66665112 - T3094 COSM4740260 c.458A>G p.N153S Substitution - Missense 8:66666501-66666501 - HCC1T COSM1624138 c.1215G>T p.L405F Substitution - Missense 8:66665744-66665744 - 61 COSM5738350 c.3433A>G p.S1145G Substitution - Missense 8:66634737-66634737 - RK308_C01 COSM3745645 c.2017G>A p.A673T Substitution - Missense 8:66664942-66664942 - TCGA-CM-6168-01 COSM1457872 c.1550G>C p.C517S Substitution - Missense 8:66665409-66665409 - TCGA-CK-5913-01 COSM1457876 c.717A>G p.R239R Substitution - coding silent 8:66666242-66666242 - CHC1597T COSM4787755 c.1541A>G p.N514S Substitution - Missense 8:66665418-66665418 - TCGA-21-5784-01 COSM750956 c.1248T>C p.A416A Substitution - coding silent 8:66665711-66665711 - PTC-7C COSM4163043 c.2016C>T p.H672H Substitution - coding silent 8:66664943-66664943 - TCGA-FS-A1ZK-06 COSM170491 c.3247C>T p.R1083* Substitution - Nonsense 8:66634923-66634923 - TCGA-D8-A1JT-01 COSM1489379 c.621T>G p.C207W Substitution - Missense 8:66666338-66666338 - 2318491 COSM4776812 c.1634C>G p.S545C Substitution - Missense 8:66665325-66665325 - ESCC-F27 COSM5047441 c.1436A>T p.H479L Substitution - Missense 8:66665523-66665523 - TCGA-AN-A0AR-01 COSM454758 c.2829A>G p.P943P Substitution - coding silent 8:66635341-66635341 - KM12 COSM4612230 c.105_106insG p.L36fs*51 Insertion - Frameshift 8:66666853-66666854 - B10 COSM253883 c.465C>T p.G155G Substitution - coding silent 8:66666494-66666494 - TCGA-BR-8680-01 COSM3901072 c.318T>C p.V106V Substitution - coding silent 8:66666641-66666641 - CSCC-44-T COSM4453511 c.3054A>T p.Q1018H Substitution - Missense 8:66635116-66635116 - LS513 COSM4646953 c.8A>G p.Q3R Substitution - Missense 8:66666951-66666951 - TCGA-DR-A0ZM-01 COSM461410 c.1322G>A p.R441K Substitution - Missense 8:66665637-66665637 - WSU-HN8 COSM4603289 c.27_28insGCC p.P9_P10insA Insertion - In frame 8:66666931-66666932 - MZ7-mel COSM21779 c.3087G>A p.G1029G Substitution - coding silent 8:66635083-66635083 - PD4137a COSM165477 c.2873G>A p.R958K Substitution - Missense 8:66635297-66635297 - TCGA-UC-A7PF-01 COSM4830401 c.1354G>C p.E452Q Substitution - Missense 8:66665605-66665605 - TCGA-DR-A0ZM-01 COSM461409 c.1300G>A p.D434N Substitution - Missense 8:66665659-66665659 - TCGA-66-2770-01 COSM750953 c.577G>A p.D193N Substitution - Missense 8:66666382-66666382 - TCGA-G4-6294-01 COSM5174071 c.1640G>C p.R547P Substitution - Missense 8:66665319-66665319 - TCGA-B5-A11E-01 COSM1101099 c.2977A>C p.R993R Substitution - coding silent 8:66635193-66635193 - TCGA-EE-A2GS-06 COSM3925474 c.1776C>T p.F592F Substitution - coding silent 8:66665183-66665183 - TCGA-EI-6882-01 COSM1457875 c.1377delA p.A460fs*2 Deletion - Frameshift 8:66665582-66665582 - SC_9109 COSM5556683 c.1945C>T p.H649Y Substitution - Missense 8:66665014-66665014 - 406 COSM4430258 c.3399A>G p.P1133P Substitution - coding silent 8:66634771-66634771 - ESCC_13 COSM5625367 c.764C>T p.A255V Substitution - Missense 8:66666195-66666195 - pfg008T COSM1643622 c.833T>C p.V278A Substitution - Missense 8:66666126-66666126 - WSU-HN8 COSM4602513 c.241_248delCAGCTGCT p.Q81fs*3 Deletion - Frameshift 8:66666711-66666718 - PA285 COSM1163514 c.3562G>A p.A1188T Substitution - Missense 8:66634608-66634608 - S02286 COSM5685488 c.2481G>T p.M827I Substitution - Missense 8:66664478-66664478 - TCGA-A8-A09Z-01 COSM3834920 c.1676A>G p.D559G Substitution - Missense 8:66665283-66665283 - TCGA-AA-A00N-01 COSM278073 c.2353C>T p.R785* Substitution - Nonsense 8:66664606-66664606 - ESCC_110 COSM5650080 c.564_566delCCT p.L189delL Deletion - In frame 8:66666393-66666395 - TCGA-AP-A0LM-01 COSM1101095 c.3520A>G p.T1174A Substitution - Missense 8:66634650-66634650 - TCGA-AP-A059-01 COSM1101101 c.2595A>G p.S865S Substitution - coding silent 8:66664364-66664364 - STC252 COSM5063295 c.1589A>G p.Y530C Substitution - Missense 8:66665370-66665370 - 61 COSM5738352 c.38C>T p.P13L Substitution - Missense 8:66666921-66666921 - TCGA-EI-6917-01 COSM170491 c.3247C>T p.R1083* Substitution - Nonsense 8:66634923-66634923 - TCGA-D8-A27G-01 COSM3834917 c.3631G>C p.E1211Q Substitution - Missense 8:66634539-66634539 - T3091 COSM4740258 c.1857T>C p.N619N Substitution - coding silent 8:66665102-66665102 - TCGA-CG-5721-01 COSM3901068 c.1161G>A p.K387K Substitution - coding silent 8:66665798-66665798 - TCGA-BS-A0UJ-01 COSM1101102 c.2418A>G p.R806R Substitution - coding silent 8:66664541-66664541 - PT53 COSM5941302 c.1208G>A p.R403K Substitution - Missense 8:66665751-66665751 - TCGA-FS-A4F5-06 COSM3650288 c.3313C>T p.Q1105* Substitution - Nonsense 8:66634857-66634857 - T3527 COSM4740261 c.422A>G p.K141R Substitution - Missense 8:66666537-66666537 - BN40T COSM1624137 c.1536G>A p.L512L Substitution - coding silent 8:66665423-66665423 - PD4137a COSM165478 c.2473G>C p.E825Q Substitution - Missense 8:66664486-66664486 - 2530678 COSM5885952 c.2925_2926delTG p.E976fs*4 Deletion - Frameshift 8:66635244-66635245 - TCGA-EI-6917-01 COSM3432500 c.147C>T p.C49C Substitution - coding silent 8:66666812-66666812 - TCGA-EJ-8472-01 COSM3784161 c.545A>G p.K182R Substitution - Missense 8:66666414-66666414 - C0068T COSM4138727 c.3451G>A p.G1151R Substitution - Missense 8:66634719-66634719 - ESCC-F66 COSM5048273 c.2002A>G p.I668V Substitution - Missense 8:66664957-66664957 - TCGA-C8-A1HM-01 COSM454761 c.226C>G p.R76G Substitution - Missense 8:66666733-66666733 - TCGA-EE-A2GI-06 COSM3650294 c.925C>T p.L309F Substitution - Missense 8:66666034-66666034 - TCGA-HU-A4GU-01 COSM3901057 c.3638C>A p.T1213N Substitution - Missense 8:66634532-66634532 - TCGA-DA-A1HV-06 COSM3650293 c.967C>G p.L323V Substitution - Missense 8:66665992-66665992 - T2269 COSM4740259 c.1384A>C p.M462L Substitution - Missense 8:66665575-66665575 - TCGA-G4-6309-01 COSM1457875 c.1377delA p.A460fs*2 Deletion - Frameshift 8:66665582-66665582 - HCC28 COSM1624136 c.2813A>G p.K938R Substitution - Missense 8:66635357-66635357 - RK130_C01 COSM1635844 c.2452C>T p.R818* Substitution - Nonsense 8:66664507-66664507 - TCGA-12-0615 COSM2153480 c.3598G>T p.E1200* Substitution - Nonsense 8:66634572-66634572 - TCGA-EE-A3J5-06 COSM3650291 c.2464C>T p.P822S Substitution - Missense 8:66664495-66664495 - pfg008T COSM1643622 c.833T>C p.V278A Substitution - Missense 8:66666126-66666126 - LUAD-RT-S01769 COSM381099 c.1974G>C p.K658N Substitution - Missense 8:66664985-66664985 - Pat_50_A COSM5874890 c.2674G>A p.E892K Substitution - Missense 8:66664285-66664285 - RKO COSM4615020 c.260_262delAGG p.E87delE Deletion - In frame 8:66666697-66666699 - 61 COSM5738351 c.2417G>T p.R806I Substitution - Missense 8:66664542-66664542 - TCGA-D8-A1J8-01 COSM3834921 c.475G>C p.D159H Substitution - Missense 8:66666484-66666484 - TCGA-CJ-6033-01 COSM486602 c.3477A>G p.E1159E Substitution - coding silent 8:66634693-66634693 - STC291 COSM5063294 c.3204G>A p.E1068E Substitution - coding silent 8:66634966-66634966 - ESO-021 COSM1270182 c.2682C>T p.Y894Y Substitution - coding silent 8:66664277-66664277 - PD11343a COSM5793122 c.351A>G p.V117V Substitution - coding silent 8:66666608-66666608 - TCGA-EQ-5647-01 COSM3901065 c.1661C>G p.S554C Substitution - Missense 8:66665298-66665298 - CSCC-40-T COSM4464564 c.133C>T p.L45F Substitution - Missense 8:66666826-66666826 - 112527 COSM96282 c.567G>C p.L189L Substitution - coding silent 8:66666392-66666392 - MD-323 COSM303543 c.3451G>T p.G1151W Substitution - Missense 8:66634719-66634719 - TCGA-AK-3429-01 COSM486601 c.3559T>C p.F1187L Substitution - Missense 8:66634611-66634611 - TCGA-A6-3809-01 COSM4612230 c.105_106insG p.L36fs*51 Insertion - Frameshift 8:66666853-66666854 - TCGA-B5-A11E-01 COSM1101104 c.2193A>G p.K731K Substitution - coding silent 8:66664766-66664766 - LB1047-RCC COSM25287 c.106_107insG p.L36fs*51 Insertion - Frameshift 8:66666852-66666853 - KYSE110 COSM5049461 c.2506G>A p.E836K Substitution - Missense 8:66664453-66664453 - TCGA-HU-A4H8-01 COSM3901062 c.2162C>T p.T721M Substitution - Missense 8:66664797-66664797 - TCGA-B5-A11U-01 COSM1101100 c.2643A>G p.S881S Substitution - coding silent 8:66664316-66664316 - LUAD-NYU201 COSM371492 c.74C>T p.S25L Substitution - Missense 8:66666885-66666885 - TCGA-EJ-7782-01 COSM3784160 c.1528T>C p.F510L Substitution - Missense 8:66665431-66665431 - 392 COSM4428347 c.1396C>T p.L466F Substitution - Missense 8:66665563-66665563 - LUAD-CHTN-3090416 COSM357669 c.3612G>C p.E1204D Substitution - Missense 8:66634558-66634558 - HN_62756 COSM130149 c.3031G>T p.V1011L Substitution - Missense 8:66635139-66635139 - TCGA-AP-A059-01 COSM1101096 c.3437C>T p.S1146F Substitution - Missense 8:66634733-66634733 - B10 COSM253883 c.465C>T p.G155G Substitution - coding silent 8:66666494-66666494 - Pat_40_B COSM5874892 c.33G>T p.L11F Substitution - Missense 8:66666926-66666926 - TCGA-BR-6452-01 COSM3901064 c.1678G>A p.G560R Substitution - Missense 8:66665281-66665281 - 022T COSM1728035 c.194C>G p.S65C Substitution - Missense 8:66666765-66666765 - TCGA-B0-5119-01 COSM486603 c.262G>T p.V88L Substitution - Missense 8:66666697-66666697 - ESCC-246T COSM3942713 c.2057C>T p.S686F Substitution - Missense 8:66664902-66664902 - TCGA-E9-A1RH-01 COSM1489377 c.3563C>T p.A1188V Substitution - Missense 8:66634607-66634607 - TCGA-12-0615-01 COSM2153480 c.3598G>T p.E1200* Substitution - Nonsense 8:66634572-66634572 - TCGA-A8-A07U-01 COSM4612230 c.105_106insG p.L36fs*51 Insertion - Frameshift 8:66666853-66666854 - TCGA-AZ-4315-01 COSM1457871 c.1639C>T p.R547* Substitution - Nonsense 8:66665320-66665320 - TCGA-22-5489-01 COSM750958 c.2866G>C p.E956Q Substitution - Missense 8:66635304-66635304 - TCGA-DK-A1AC-01 COSM1314150 c.2255G>A p.R752H Substitution - Missense 8:66664704-66664704 - HCA7 COSM4612230 c.105_106insG p.L36fs*51 Insertion - Frameshift 8:66666853-66666854 - TCGA-CD-5804-01 COSM3901071 c.454A>T p.M152L Substitution - Missense 8:66666505-66666505 - TCGA-CM-5861-01 COSM1457867 c.3263T>C p.V1088A Substitution - Missense 8:66634907-66634907 - MZ7-mel COSM21779 c.3087G>A p.G1029G Substitution - coding silent 8:66635083-66635083 - TCGA-D1-A17H-01 COSM1101113 c.976C>T p.L326F Substitution - Missense 8:66665983-66665983 - ESCC_36 COSM5628852 c.2223G>A p.G741G Substitution - coding silent 8:66664736-66664736 - TCGA-37-3783-01 COSM750955 c.874A>G p.I292V Substitution - Missense 8:66666085-66666085 - HCC28T COSM1624136 c.2813A>G p.K938R Substitution - Missense 8:66635357-66635357 - TCGA-B6-A1KN-01 COSM1489378 c.647A>C p.D216A Substitution - Missense 8:66666312-66666312 - TCGA-AA-3663-01 COSM2721033 c.3279C>T p.D1093D Substitution - coding silent 8:66634891-66634891 - YUKAT COSM5409772 c.453C>T p.D151D Substitution - coding silent 8:66666506-66666506 - AOCS-162-1-1 COSM4151556 c.3066A>T p.V1022V Substitution - coding silent 8:66635104-66635104 - TCGA-EE-A2MH-06 COSM3650295 c.732G>A p.Q244Q Substitution - coding silent 8:66666227-66666227 - TCGA-BR-4280-01 COSM3901063 c.1900T>G p.F634V Substitution - Missense 8:66665059-66665059 - BD25T COSM5509016 c.586G>A p.E196K Substitution - Missense 8:66666373-66666373 - TCGA-DK-A3IU-01 COSM3779312 c.2579C>T p.S860F Substitution - Missense 8:66664380-66664380 - TCGA-AP-A0LM-01 COSM1101114 c.530C>T p.T177I Substitution - Missense 8:66666429-66666429 - ESCC_4 COSM5623005 c.28C>G p.P10A Substitution - Missense 8:66666931-66666931 - TCGA-A5-A0G9-01 COSM1101103 c.2351G>A p.G784E Substitution - Missense 8:66664608-66664608 - LUAD-S01357 COSM387897 c.1219G>C p.D407H Substitution - Missense 8:66665740-66665740 - TCGA-AA-3713-01 COSM1457877 c.266C>T p.T89I Substitution - Missense 8:66666693-66666693 - TCGA-BR-8487-01 COSM3901061 c.2779A>T p.I927F Substitution - Missense 8:66651476-66651476 - TCGA-CM-5341-01 COSM5157330 c.2645C>G p.S882C Substitution - Missense 8:66664314-66664314 - TCGA-BG-A0MC-01 COSM1101098 c.3248G>A p.R1083Q Substitution - Missense 8:66634922-66634922 - TCGA-B0-5119-01 COSM486605 c.261G>C p.E87D Substitution - Missense 8:66666698-66666698 - TCGA-BS-A0UV-01 COSM1101106 c.1980C>T p.P660P Substitution - coding silent 8:66664979-66664979 - TCGA-D1-A103-01 COSM1101110 c.1623C>T p.C541C Substitution - coding silent 8:66665336-66665336 - ESO-077 COSM1270184 c.403G>T p.A135S Substitution - Missense 8:66666556-66666556 - LUAD-S00484 COSM343145 c.2900G>C p.G967A Substitution - Missense 8:66635270-66635270 - TCGA-JW-A5VL-01 COSM4848003 c.151G>C p.D51H Substitution - Missense 8:66666808-66666808 - TCGA-G4-6302-01 COSM3699141 c.2840G>A p.G947D Substitution - Missense 8:66635330-66635330 - CSCC-44-T COSM4484634 c.2833C>T p.L945L Substitution - coding silent 8:66635337-66635337 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.632066 8q13 611745

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.C207W c.621T>G 8 67578573 BRCA A C Missense p.F634V c.1900T>G 8 67577294 STAD A C Missense p.I356S c.1067T>G 8 67578127 BRCA - A Frameshift p.G334Wfs*19 c.999dupT 8 67578195 PRAD A G Missense p.V278A c.833T>C 8 67578361 STAD A G Synonymous p.A416A c.1248T>C 8 67577946 LUSC A G Synonymous p.L306L c.916T>C 8 67578278 BRCA ATCGAACAG - InFrameDeletion p.L157_D159delLFD c.469_477delCTGTTCGAT 8 67578717 BRCA A T Missense p.S315T c.943T>A 8 67578251 HNSC CAACTT - InFrameDeletion p.E1142_V1143delEV c.3425_3430delAAGTTG 8 67546975 RCCC C A Missense p.A135S c.403G>T 8 67578791 ESCA C A Missense p.G35W c.103G>T 8 67579091 LUSC C A Missense p.G670C c.2008G>T 8 67577186 OV C A Missense p.G820W c.2458G>T 8 67576736 CM C A Missense p.S1063I c.3188G>T 8 67547217 LUSC C A Missense p.V1011L c.3031G>T 8 67547374 HNSC C A Missense p.V88L c.262G>T 8 67578932 RCCC C A Nonsense p.E1200* c.3598G>T 8 67546807 GBM C A Synonymous p.P5P c.15G>T 8 67579179 PRAD - C Frameshift p.L36Afs*51 c.105dupG 8 67579089 LUAD C G Missense p.D463H c.1387G>C 8 67577807 HNSC C G Missense p.E825Q c.2473G>C 8 67576721 BRCA C G Missense p.E87D c.261G>C 8 67578933 RCCC C G Missense p.E956Q c.2866G>C 8 67547539 LUSC C G Missense p.K1014N c.3042G>C 8 67547363 LUSC C G Missense p.Q728H c.2184G>C 8 67577010 CM C G Missense p.R675T c.2024G>C 8 67577170 LUAD C G Missense p.V480L c.1438G>C 8 67577756 OV CTC - InFrameDeletion p.E706delE c.2116_2118delGAG 8 67577076 UCEC C T Missense p.A1104T c.3310G>A 8 67547095 STAD C T Missense p.D193N c.577G>A 8 67578617 LUSC C T Missense p.D936N c.2806G>A 8 67547599 BLCA C T Missense p.R231Q c.692G>A 8 67578502 LUSC C T Missense p.R958K c.2873G>A 8 67547532 BRCA C T Synonymous p.Q1105Q c.3315G>A 8 67547090 LUSC C T Synonymous p.Q244Q c.732G>A 8 67578462 CM G A Missense p.A1188V c.3563C>T 8 67546842 BRCA G A Missense p.L309F c.925C>T 8 67578269 CM G A Missense p.L326F c.976C>T 8 67578218 UCEC G A Missense p.P21L c.62C>T 8 67579132 LUSC G A Missense p.P822S c.2464C>T 8 67576730 CM G A Missense p.S860F c.2579C>T 8 67576615 BLCA G A Nonsense p.R1083* c.3247C>T 8 67547158 CM G A Nonsense p.R818* c.2452C>T 8 67576742 HC G A Synonymous p.A1104A c.3312C>T 8 67547093 CM G A Synonymous p.D41D c.123C>T 8 67579071 BRCA G A Synonymous p.F592F c.1776C>T 8 67577418 CM G A Synonymous p.N1021N c.3063C>T 8 67547342 BRCA G A Synonymous p.S350S c.1050C>T 8 67578144 HNSC G A Synonymous p.Y894Y c.2682C>T 8 67576512 ESCA G C Missense p.I290M c.870C>G 8 67578324 BRCA G C Missense p.L323V c.967C>G 8 67578227 CM G C Missense p.P822R c.2465C>G 8 67576729 HNSC G C Missense p.Q680E c.2038C>G 8 67577156 BRCA G C Missense p.S554C c.1661C>G 8 67577533 STAD G T Synonymous p.V420V c.1260C>A 8 67577934 CM T C 3-UTRSNV . c.3666+1146A>G 8 67545593 HC T C Missense p.H258R c.773A>G 8 67578421 ESCA T C Missense p.I292V c.874A>G 8 67578320 LUSC T C Missense p.M371V c.1111A>G 8 67578083 HNSC T C Synonymous p.E1159E c.3477A>G 8 67546928 RCCC T C Synonymous p.P943P c.2829A>G 8 67547576 BRCA T C Synonymous p.S881S c.2643A>G 8 67576551 UCEC T G Missense p.D216A c.647A>C 8 67578547 BRCA T G Synonymous p.R845R c.2533A>C 8 67576661 RCCC