Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 7 98633248 98633248 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 g.chr7:98633248C>T c.1979G>A c.(1978-1980)cGg>cAg p.R660Q BLCA 7 98634777 98634777 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 g.chr7:98634777G>A c.1800C>T c.(1798-1800)atC>atT p.I600I BLCA 7 98638102 98638103 + Frame_Shift_Ins INS - - C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 g.chr7:98638102_98638103insC c.1526_1527insG c.(1525-1527)ggcfs p.G509fs BLCA 7 98639810 98639810 + Silent SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 g.chr7:98639810G>A c.1380C>T c.(1378-1380)taC>taT p.Y460Y BLCA 7 98645380 98645380 + Missense_Mutation SNP C C A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 g.chr7:98645380C>A c.1157G>T c.(1156-1158)aGa>aTa p.R386I BLCA 7 98645441 98645441 + Missense_Mutation SNP C C A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 g.chr7:98645441C>A c.1096G>T c.(1096-1098)Gac>Tac p.D366Y BLCA 7 98645449 98645449 + Missense_Mutation SNP G G A TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr7:98645449G>A c.1088C>T c.(1087-1089)tCt>tTt p.S363F BLCA 7 98645504 98645504 + Splice_Site SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 g.chr7:98645504G>A c.1033C>T c.(1033-1035)Cac>Tac p.H345Y BLCA 7 98649052 98649052 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr7:98649052G>C c.734C>G c.(733-735)aCa>aGa p.T245R BLCA 7 98649874 98649874 + Silent SNP C C T TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr7:98649874C>T c.675G>A c.(673-675)caG>caA p.Q225Q BLCA 7 98649958 98649958 + Silent SNP G G A TCGA-CF-A7I0-01A-22D-A34U-08 TCGA-CF-A7I0-10A-01D-A34X-08 g.chr7:98649958G>A c.591C>T c.(589-591)ttC>ttT p.F197F BLCA 7 98655043 98655043 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr7:98655043C>G c.335G>C c.(334-336)gGa>gCa p.G112A BRCA 7 98630674 98630674 + Silent SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr7:98630674C>T c.2160G>A c.(2158-2160)ccG>ccA p.P720P BRCA 7 98638117 98638117 + Missense_Mutation SNP G G T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 g.chr7:98638117G>T c.1512C>A c.(1510-1512)caC>caA p.H504Q BRCA 7 98645333 98645333 + Missense_Mutation SNP C C T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 g.chr7:98645333C>T c.1204G>A c.(1204-1206)Gaa>Aaa p.E402K BRCA 7 98648569 98648569 + Missense_Mutation SNP A A G TCGA-C8-A274-01A-11D-A16D-09 TCGA-C8-A274-10A-01D-A16D-09 g.chr7:98648569A>G c.853T>C c.(853-855)Ttc>Ctc p.F285L CESC 7 98638144 98638144 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chr7:98638144G>A c.1485C>T c.(1483-1485)atC>atT p.I495I CHOL 7 98636132 98636132 + Missense_Mutation SNP G G T TCGA-ZH-A8Y4-01A-11D-A417-09 TCGA-ZH-A8Y4-10A-01D-A41A-09 g.chr7:98636132G>T c.1645C>A c.(1645-1647)Cct>Act p.P549T COAD 7 98630732 98630732 + Missense_Mutation SNP G G A TCGA-F4-6808-01A-11D-1835-10 TCGA-F4-6808-10A-01D-1835-10 g.chr7:98630732G>A c.2102C>T c.(2101-2103)gCg>gTg p.A701V COAD 7 98643358 98643358 + Missense_Mutation SNP G G A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr7:98643358G>A c.1297C>T c.(1297-1299)Cgt>Tgt p.R433C COAD 7 98645333 98645333 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr7:98645333C>T c.1204G>A c.(1204-1206)Gaa>Aaa p.E402K COAD 7 98645414 98645414 + Missense_Mutation SNP C C T TCGA-CK-5914-01A-11D-1650-10 TCGA-CK-5914-10A-01D-1650-10 g.chr7:98645414C>T c.1123G>A c.(1123-1125)Gaa>Aaa p.E375K COAD 7 98649880 98649880 + Silent SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr7:98649880C>T c.669G>A c.(667-669)acG>acA p.T223T COAD 7 98649911 98649911 + Missense_Mutation SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr7:98649911C>T c.638G>A c.(637-639)cGa>cAa p.R213Q COAD 7 98654842 98654842 + Missense_Mutation SNP C C T TCGA-CM-4747-01A-01D-1408-10 TCGA-CM-4747-10A-01D-1408-10 g.chr7:98654842C>T c.389G>A c.(388-390)cGt>cAt p.R130H COAD 7 98658280 98658280 + Missense_Mutation SNP G G T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr7:98658280G>T c.145C>A c.(145-147)Cac>Aac p.H49N COADREAD 7 98630732 98630732 + Missense_Mutation SNP G G A TCGA-F4-6808-01A-11D-1835-10 TCGA-F4-6808-10A-01D-1835-10 g.chr7:98630732G>A c.2102C>T c.(2101-2103)gCg>gTg p.A701V COADREAD 7 98634740 98634740 + Missense_Mutation SNP C C T TCGA-AF-3913-01A-02W-1073-09 TCGA-AF-3913-11A-01W-1073-09 g.chr7:98634740C>T c.1837G>A c.(1837-1839)Gag>Aag p.E613K COADREAD 7 98643358 98643358 + Missense_Mutation SNP G G A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr7:98643358G>A c.1297C>T c.(1297-1299)Cgt>Tgt p.R433C COADREAD 7 98643392 98643392 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:98643392C>T c.1263G>A c.(1261-1263)ccG>ccA p.P421P COADREAD 7 98645333 98645333 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr7:98645333C>T c.1204G>A c.(1204-1206)Gaa>Aaa p.E402K COADREAD 7 98645414 98645414 + Missense_Mutation SNP C C T TCGA-CK-5914-01A-11D-1650-10 TCGA-CK-5914-10A-01D-1650-10 g.chr7:98645414C>T c.1123G>A c.(1123-1125)Gaa>Aaa p.E375K COADREAD 7 98647331 98647331 + Splice_Site SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:98647331C>A c.886G>T c.(886-888)Gac>Tac p.D296Y COADREAD 7 98649880 98649880 + Silent SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr7:98649880C>T c.669G>A c.(667-669)acG>acA p.T223T COADREAD 7 98649911 98649911 + Missense_Mutation SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr7:98649911C>T c.638G>A c.(637-639)cGa>cAa p.R213Q COADREAD 7 98654842 98654842 + Missense_Mutation SNP C C T TCGA-CM-4747-01A-01D-1408-10 TCGA-CM-4747-10A-01D-1408-10 g.chr7:98654842C>T c.389G>A c.(388-390)cGt>cAt p.R130H COADREAD 7 98658280 98658280 + Missense_Mutation SNP G G T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr7:98658280G>T c.145C>A c.(145-147)Cac>Aac p.H49N DLBC 7 98652487 98652487 + Splice_Site SNP G G C TCGA-GS-A9TW-01A-11D-A382-10 TCGA-GS-A9TW-10A-01D-A385-10 g.chr7:98652487G>C c.405C>G c.(403-405)gtC>gtG p.V135V ESCA 7 98636024 98636024 + Missense_Mutation SNP T T G TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 g.chr7:98636024T>G c.1753A>C c.(1753-1755)Aaa>Caa p.K585Q ESCA 7 98649881 98649881 + Missense_Mutation SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 g.chr7:98649881G>A c.668C>T c.(667-669)aCg>aTg p.T223M GBM 7 98636012 98636012 + Splice_Site SNP G G A TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 g.chr7:98636012G>A c.1765C>T c.(1765-1767)Cgg>Tgg p.R589W GBM 7 98636097 98636099 + In_Frame_Del DEL GTT GTT - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 g.chr7:98636097_98636099delGTT c.1678_1680delAAC c.(1678-1680)aacdel p.N560del GBMLGG 7 98636012 98636012 + Splice_Site SNP G G A TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 g.chr7:98636012G>A c.1765C>T c.(1765-1767)Cgg>Tgg p.R589W GBMLGG 7 98636097 98636099 + In_Frame_Del DEL GTT GTT - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 g.chr7:98636097_98636099delGTT c.1678_1680delAAC c.(1678-1680)aacdel p.N560del GBMLGG 7 98645338 98645338 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:98645338C>T c.1199G>A c.(1198-1200)cGc>cAc p.R400H GBMLGG 7 98655082 98655082 + Missense_Mutation SNP C C T TCGA-DU-A7TA-01A-11D-A33T-08 TCGA-DU-A7TA-10A-01D-A33W-08 g.chr7:98655082C>T c.296G>A c.(295-297)cGg>cAg p.R99Q HNSC 7 98636133 98636133 + Silent SNP C C A TCGA-CV-A45Y-01A-11D-A25D-08 TCGA-CV-A45Y-10A-01D-A25E-08 g.chr7:98636133C>A c.1644G>T c.(1642-1644)acG>acT p.T548T HNSC 7 98638089 98638089 + Missense_Mutation SNP A A G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 g.chr7:98638089A>G c.1540T>C c.(1540-1542)Ttc>Ctc p.F514L HNSC 7 98645385 98645385 + Silent SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 g.chr7:98645385G>A c.1152C>T c.(1150-1152)gtC>gtT p.V384V HNSC 7 98649869 98649869 + Missense_Mutation SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 g.chr7:98649869C>T c.680G>A c.(679-681)cGa>cAa p.R227Q HNSC 7 98649936 98649936 + Missense_Mutation SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 g.chr7:98649936G>C c.613C>G c.(613-615)Caa>Gaa p.Q205E HNSC 7 98655145 98655145 + Missense_Mutation SNP A A C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 g.chr7:98655145A>C c.233T>G c.(232-234)aTt>aGt p.I78S KIPAN 7 98639741 98639741 + Splice_Site SNP G G C TCGA-B0-5100-01A-01D-1421-08 TCGA-B0-5100-11A-01D-1421-08 g.chr7:98639741G>C c.1449C>G c.(1447-1449)ccC>ccG p.P483P KIRC 7 98639741 98639741 + Splice_Site SNP G G C TCGA-B0-5100-01A-01D-1421-08 TCGA-B0-5100-11A-01D-1421-08 g.chr7:98639741G>C c.1449C>G c.(1447-1449)ccC>ccG p.P483P LGG 7 98645338 98645338 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:98645338C>T c.1199G>A c.(1198-1200)cGc>cAc p.R400H LGG 7 98655082 98655082 + Missense_Mutation SNP C C T TCGA-DU-A7TA-01A-11D-A33T-08 TCGA-DU-A7TA-10A-01D-A33W-08 g.chr7:98655082C>T c.296G>A c.(295-297)cGg>cAg p.R99Q LIHC 7 98628253 98628253 + Missense_Mutation SNP T T C TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr7:98628253T>C c.2228A>G c.(2227-2229)aAg>aGg p.K743R LIHC 7 98645348 98645348 + Missense_Mutation SNP C C A TCGA-CC-A7IJ-01A-11D-A33Q-10 TCGA-CC-A7IJ-10A-01D-A33Q-10 g.chr7:98645348C>A c.1189G>T c.(1189-1191)Ggt>Tgt p.G397C LIHC 7 98645414 98645414 + Missense_Mutation SNP C C T TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr7:98645414C>T c.1123G>A c.(1123-1125)Gaa>Aaa p.E375K LIHC 7 98655111 98655111 + Frame_Shift_Del DEL T T - TCGA-EP-A12J-01A-11D-A12Z-10 TCGA-EP-A12J-10A-01D-A12Z-10 g.chr7:98655111delT c.267delA c.(265-267)aaafs p.K89fs LUAD 7 98633176 98633176 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr7:98633176G>C c.2051C>G c.(2050-2052)tCc>tGc p.S684C LUAD 7 98633231 98633231 + Missense_Mutation SNP C C T TCGA-78-8655-01A-11D-2393-08 TCGA-78-8655-10A-01D-2393-08 g.chr7:98633231C>T c.1996G>A c.(1996-1998)Gtg>Atg p.V666M LUAD 7 98633309 98633309 + Missense_Mutation SNP A A C TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr7:98633309A>C c.1918T>G c.(1918-1920)Ttg>Gtg p.L640V LUAD 7 98634711 98634711 + Silent SNP A A G TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chr7:98634711A>G c.1866T>C c.(1864-1866)ccT>ccC p.P622P LUAD 7 98638175 98638175 + Missense_Mutation SNP T T C TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr7:98638175T>C c.1454A>G c.(1453-1455)cAc>cGc p.H485R LUAD 7 98643368 98643368 + Missense_Mutation SNP C C A TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr7:98643368C>A c.1287G>T c.(1285-1287)atG>atT p.M429I LUAD 7 98645414 98645414 + Missense_Mutation SNP C C T TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr7:98645414C>T c.1123G>A c.(1123-1125)Gaa>Aaa p.E375K LUAD 7 98654860 98654860 + Nonsense_Mutation SNP G G C TCGA-69-7765-01A-11D-2167-08 TCGA-69-7765-10A-01D-2167-08 g.chr7:98654860G>C c.371C>G c.(370-372)tCa>tGa p.S124* LUAD 7 98655126 98655126 + Missense_Mutation SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 g.chr7:98655126C>G c.252G>C c.(250-252)aaG>aaC p.K84N LUSC 7 98645444 98645444 + Nonsense_Mutation SNP C C A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 g.chr7:98645444C>A c.1093G>T c.(1093-1095)Gag>Tag p.E365* LUSC 7 98645447 98645447 + Missense_Mutation SNP G G C TCGA-66-2773-01A-01D-1267-08 TCGA-66-2773-11A-01D-1267-08 g.chr7:98645447G>C c.1090C>G c.(1090-1092)Ctg>Gtg p.L364V OV 7 98636021 98636021 + Nonsense_Mutation SNP C C A TCGA-24-0970-01B-01W-0486-08 TCGA-24-0970-10A-01W-0486-08 g.chr7:98636021C>A c.1756G>T c.(1756-1758)Gaa>Taa p.E586* OV 7 98643376 98643376 + Missense_Mutation SNP G G A TCGA-13-2071-01A-02D-1526-09 TCGA-13-2071-10A-01D-1526-09 g.chr7:98643376G>A c.1279C>T c.(1279-1281)Cgg>Tgg p.R427W PRAD 7 98633252 98633252 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr7:98633252C>T c.1975G>A c.(1975-1977)Gtg>Atg p.V659M PRAD 7 98634699 98634699 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr7:98634699C>T c.1878G>A c.(1876-1878)aaG>aaA p.K626K READ 7 98634740 98634740 + Missense_Mutation SNP C C T TCGA-AF-3913-01A-02W-1073-09 TCGA-AF-3913-11A-01W-1073-09 g.chr7:98634740C>T c.1837G>A c.(1837-1839)Gag>Aag p.E613K READ 7 98643392 98643392 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:98643392C>T c.1263G>A c.(1261-1263)ccG>ccA p.P421P READ 7 98647331 98647331 + Splice_Site SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:98647331C>A c.886G>T c.(886-888)Gac>Tac p.D296Y SARC 7 98633223 98633223 + Silent SNP C C A TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 g.chr7:98633223C>A c.2004G>T c.(2002-2004)acG>acT p.T668T SKCM 7 98643359 98643359 + Silent SNP G G A TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr7:98643359G>A c.1296C>T c.(1294-1296)ttC>ttT p.F432F SKCM 7 98645495 98645495 + Nonsense_Mutation SNP G G A TCGA-D3-A5GR-06A-11D-A27K-08 TCGA-D3-A5GR-10A-01D-A27N-08 g.chr7:98645495G>A c.1042C>T c.(1042-1044)Caa>Taa p.Q348* SKCM 7 98652473 98652473 + Missense_Mutation SNP C C T TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr7:98652473C>T c.419G>A c.(418-420)cGa>cAa p.R140Q

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 7 98633160 98633160 single base substitution G A synonymous_variant L663L 1989C>T BLCA-CN 7 98633160 98633160 single base substitution G A synonymous_variant L689L 2067C>T BLCA-CN 7 98634765 98634765 single base substitution G C missense_variant F578L 1734C>G BLCA-CN 7 98634765 98634765 single base substitution G C missense_variant F604L 1812C>G BLCA-CN 7 98643400 98643400 single base substitution T C missense_variant M393V 1177A>G BLCA-CN 7 98643400 98643400 single base substitution T C missense_variant M419V 1255A>G BLCA-CN 7 98645382 98645382 single base substitution G A downstream_gene_variant BLCA-CN 7 98645382 98645382 single base substitution G A synonymous_variant L359L 1077C>T BLCA-CN 7 98645382 98645382 single base substitution G A synonymous_variant L385L 1155C>T BLCA-US 7 98634777 98634777 single base substitution G A synonymous_variant I574I 1722C>T BLCA-US 7 98634777 98634777 single base substitution G A synonymous_variant I600I 1800C>T BLCA-US 7 98638102 98638102 insertion of <=200bp - C frameshift_variant G483G? BLCA-US 7 98638102 98638102 insertion of <=200bp - C frameshift_variant G509G? BLCA-US 7 98639810 98639810 single base substitution G A synonymous_variant Y434Y 1302C>T BLCA-US 7 98639810 98639810 single base substitution G A synonymous_variant Y460Y 1380C>T BLCA-US 7 98645380 98645380 single base substitution C A downstream_gene_variant BLCA-US 7 98645380 98645380 single base substitution C A missense_variant R360I 1079G>T BLCA-US 7 98645380 98645380 single base substitution C A missense_variant R386I 1157G>T BLCA-US 7 98645441 98645441 single base substitution C A downstream_gene_variant BLCA-US 7 98645441 98645441 single base substitution C A missense_variant D340Y 1018G>T BLCA-US 7 98645441 98645441 single base substitution C A missense_variant D366Y 1096G>T BLCA-US 7 98649052 98649052 single base substitution G C downstream_gene_variant BLCA-US 7 98649052 98649052 single base substitution G C missense_variant T245R 734C>G BRCA-EU 7 98622814 98622814 single base substitution T C downstream_gene_variant BRCA-EU 7 98623002 98623002 single base substitution C G downstream_gene_variant BRCA-EU 7 98623284 98623284 insertion of <=200bp - A downstream_gene_variant BRCA-EU 7 98623627 98623627 single base substitution T C downstream_gene_variant BRCA-EU 7 98624051 98624051 single base substitution G C downstream_gene_variant BRCA-EU 7 98624836 98624836 single base substitution C T downstream_gene_variant BRCA-EU 7 98624842 98624842 single base substitution G C downstream_gene_variant BRCA-EU 7 98624963 98624963 single base substitution C T downstream_gene_variant BRCA-EU 7 98625586 98625586 single base substitution C T 3_prime_UTR_variant BRCA-EU 7 98627732 98627732 single base substitution G A 3_prime_UTR_variant BRCA-EU 7 98628914 98628914 single base substitution G A intron_variant BRCA-EU 7 98630816 98630816 single base substitution A G intron_variant BRCA-EU 7 98631370 98631370 single base substitution G C intron_variant BRCA-EU 7 98631548 98631548 single base substitution G A intron_variant BRCA-EU 7 98632179 98632179 single base substitution A G intron_variant BRCA-EU 7 98632635 98632635 single base substitution A C intron_variant BRCA-EU 7 98633149 98633149 single base substitution T C missense_variant K667R 2000A>G BRCA-EU 7 98633149 98633149 single base substitution T C missense_variant K693R 2078A>G BRCA-EU 7 98634431 98634431 single base substitution G T intron_variant BRCA-EU 7 98636806 98636806 single base substitution G C intron_variant BRCA-EU 7 98637774 98637774 single base substitution A G intron_variant BRCA-EU 7 98638050 98638050 single base substitution C G missense_variant D501H 1501G>C BRCA-EU 7 98638050 98638050 single base substitution C G missense_variant D527H 1579G>C BRCA-EU 7 98639705 98639705 single base substitution A C intron_variant BRCA-EU 7 98640231 98640231 single base substitution G A intron_variant BRCA-EU 7 98640279 98640279 deletion of <=200bp A - intron_variant BRCA-EU 7 98641143 98641143 single base substitution G T intron_variant BRCA-EU 7 98642339 98642339 single base substitution G C intron_variant BRCA-EU 7 98642484 98642484 single base substitution C T intron_variant BRCA-EU 7 98643699 98643699 single base substitution A T intron_variant BRCA-EU 7 98644406 98644406 single base substitution G C intron_variant BRCA-EU 7 98644520 98644520 single base substitution C T intron_variant BRCA-EU 7 98644700 98644700 single base substitution G C intron_variant BRCA-EU 7 98644955 98644955 single base substitution C G downstream_gene_variant BRCA-EU 7 98644955 98644955 single base substitution C G intron_variant BRCA-EU 7 98644966 98644966 single base substitution G C downstream_gene_variant BRCA-EU 7 98644966 98644966 single base substitution G C intron_variant BRCA-EU 7 98645509 98645509 single base substitution G C downstream_gene_variant BRCA-EU 7 98645509 98645509 single base substitution G C splice_region_variant BRCA-EU 7 98646014 98646014 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 98646014 98646014 deletion of <=200bp A - intron_variant BRCA-EU 7 98646363 98646363 single base substitution A G downstream_gene_variant BRCA-EU 7 98646363 98646363 single base substitution A G intron_variant BRCA-EU 7 98647063 98647063 single base substitution T G downstream_gene_variant BRCA-EU 7 98647063 98647063 single base substitution T G intron_variant BRCA-EU 7 98647628 98647628 single base substitution G A downstream_gene_variant BRCA-EU 7 98647628 98647628 single base substitution G A intron_variant BRCA-EU 7 98648426 98648426 single base substitution A C downstream_gene_variant BRCA-EU 7 98648426 98648426 single base substitution A C intron_variant BRCA-EU 7 98648820 98648820 insertion of <=200bp - C downstream_gene_variant BRCA-EU 7 98648820 98648820 insertion of <=200bp - C intron_variant BRCA-EU 7 98649507 98649507 single base substitution C G downstream_gene_variant BRCA-EU 7 98649507 98649507 single base substitution C G intron_variant BRCA-EU 7 98650126 98650126 single base substitution G A downstream_gene_variant BRCA-EU 7 98650126 98650126 single base substitution G A intron_variant BRCA-EU 7 98650417 98650417 single base substitution G A downstream_gene_variant BRCA-EU 7 98650417 98650417 single base substitution G A intron_variant BRCA-EU 7 98650559 98650559 single base substitution C T downstream_gene_variant BRCA-EU 7 98650559 98650559 single base substitution C T intron_variant BRCA-EU 7 98652844 98652844 single base substitution A G downstream_gene_variant BRCA-EU 7 98652844 98652844 single base substitution A G intron_variant BRCA-EU 7 98652992 98652992 single base substitution G C downstream_gene_variant BRCA-EU 7 98652992 98652992 single base substitution G C intron_variant BRCA-EU 7 98653146 98653146 single base substitution G C downstream_gene_variant BRCA-EU 7 98653146 98653146 single base substitution G C intron_variant BRCA-EU 7 98654167 98654167 single base substitution G C downstream_gene_variant BRCA-EU 7 98654167 98654167 single base substitution G C intron_variant BRCA-EU 7 98654551 98654551 single base substitution G A downstream_gene_variant BRCA-EU 7 98654551 98654551 single base substitution G A intron_variant BRCA-EU 7 98655475 98655475 single base substitution C T intron_variant BRCA-EU 7 98655607 98655607 single base substitution G A intron_variant BRCA-EU 7 98655765 98655765 insertion of <=200bp - T intron_variant BRCA-EU 7 98656615 98656615 single base substitution G A intron_variant BRCA-EU 7 98656963 98656963 single base substitution G C intron_variant BRCA-EU 7 98657958 98657958 single base substitution C T intron_variant BRCA-EU 7 98658473 98658473 single base substitution A G intron_variant BRCA-EU 7 98658590 98658590 single base substitution G C intron_variant BRCA-EU 7 98658733 98658733 single base substitution G A intron_variant BRCA-EU 7 98659140 98659140 single base substitution G A intron_variant BRCA-EU 7 98660606 98660606 single base substitution G C intron_variant BRCA-EU 7 98660766 98660766 single base substitution A T intron_variant BRCA-EU 7 98663173 98663173 single base substitution C T intron_variant BRCA-EU 7 98663996 98663996 single base substitution C T intron_variant BRCA-EU 7 98664564 98664564 single base substitution G A intron_variant BRCA-EU 7 98664650 98664650 single base substitution G A intron_variant BRCA-EU 7 98664722 98664722 single base substitution G A intron_variant BRCA-EU 7 98664901 98664901 single base substitution G A intron_variant BRCA-EU 7 98665491 98665491 single base substitution T C intron_variant BRCA-EU 7 98666606 98666606 deletion of <=200bp A - intron_variant BRCA-EU 7 98670740 98670740 single base substitution C A intron_variant BRCA-EU 7 98672075 98672075 single base substitution G A intron_variant BRCA-EU 7 98673446 98673446 deletion of <=200bp T - intron_variant BRCA-EU 7 98674936 98674936 deletion of <=200bp T - intron_variant BRCA-EU 7 98675580 98675580 single base substitution C T intron_variant BRCA-EU 7 98677283 98677283 deletion of <=200bp A - intron_variant BRCA-EU 7 98678608 98678608 single base substitution C T intron_variant BRCA-EU 7 98680936 98680936 single base substitution G A intron_variant BRCA-EU 7 98680936 98680936 single base substitution G A upstream_gene_variant BRCA-EU 7 98681111 98681111 single base substitution A C intron_variant BRCA-EU 7 98681111 98681111 single base substitution A C upstream_gene_variant BRCA-EU 7 98683016 98683046 deletion of <=200bp GAAAGTCTCCTGGGAGGGACCTCCTCAGAAG - intron_variant BRCA-EU 7 98683016 98683046 deletion of <=200bp GAAAGTCTCCTGGGAGGGACCTCCTCAGAAG - upstream_gene_variant BRCA-EU 7 98683577 98683577 single base substitution T C intron_variant BRCA-EU 7 98683577 98683577 single base substitution T C upstream_gene_variant BRCA-EU 7 98683974 98683974 deletion of <=200bp A - intron_variant BRCA-EU 7 98683974 98683974 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 98684352 98684352 single base substitution C A intron_variant BRCA-EU 7 98685581 98685581 single base substitution A T intron_variant BRCA-EU 7 98685963 98685963 deletion of <=200bp T - intron_variant BRCA-EU 7 98686055 98686055 single base substitution C G intron_variant BRCA-EU 7 98686834 98686834 single base substitution A G intron_variant BRCA-EU 7 98687902 98687902 single base substitution G T intron_variant BRCA-EU 7 98687950 98687950 deletion of <=200bp G - intron_variant BRCA-EU 7 98688918 98688918 single base substitution G A intron_variant BRCA-EU 7 98689326 98689326 insertion of <=200bp - T intron_variant BRCA-EU 7 98693011 98693011 single base substitution T G intron_variant BRCA-EU 7 98693479 98693479 single base substitution G C intron_variant BRCA-EU 7 98694532 98694532 single base substitution G T intron_variant BRCA-EU 7 98694679 98694679 single base substitution G A intron_variant BRCA-EU 7 98703369 98703370 deletion of <=200bp TG - intron_variant BRCA-EU 7 98703395 98703395 single base substitution G A intron_variant BRCA-EU 7 98705397 98705397 single base substitution G A intron_variant BRCA-EU 7 98705864 98705864 deletion of <=200bp G - intron_variant BRCA-EU 7 98706379 98706379 single base substitution T C intron_variant BRCA-EU 7 98706910 98706910 single base substitution C T intron_variant BRCA-EU 7 98708100 98708100 single base substitution C T intron_variant BRCA-EU 7 98708183 98708183 single base substitution C G intron_variant BRCA-EU 7 98709152 98709152 single base substitution T C intron_variant BRCA-EU 7 98712223 98712223 single base substitution T A intron_variant BRCA-EU 7 98712353 98712353 single base substitution T C intron_variant BRCA-EU 7 98713901 98713901 single base substitution C T intron_variant BRCA-EU 7 98714312 98714314 deletion of <=200bp ATT - intron_variant BRCA-EU 7 98715440 98715440 single base substitution C T intron_variant BRCA-EU 7 98716524 98716524 single base substitution A G intron_variant BRCA-EU 7 98716752 98716752 single base substitution A G intron_variant BRCA-EU 7 98716924 98716924 single base substitution T C intron_variant BRCA-EU 7 98717404 98717404 single base substitution C A intron_variant BRCA-EU 7 98718295 98718295 single base substitution C T exon_variant BRCA-EU 7 98718295 98718295 single base substitution C T intron_variant BRCA-EU 7 98718327 98718327 single base substitution C T exon_variant BRCA-EU 7 98718327 98718327 single base substitution C T intron_variant BRCA-EU 7 98718608 98718608 single base substitution G T intron_variant BRCA-EU 7 98719499 98719499 single base substitution G C intron_variant BRCA-EU 7 98722277 98722277 single base substitution A C intron_variant BRCA-EU 7 98722542 98722542 single base substitution T C intron_variant BRCA-EU 7 98723022 98723022 single base substitution T C intron_variant BRCA-EU 7 98723762 98723762 single base substitution C A intron_variant BRCA-EU 7 98724804 98724804 single base substitution G A intron_variant BRCA-EU 7 98725927 98725927 single base substitution G A intron_variant BRCA-EU 7 98728667 98728667 single base substitution G C intron_variant BRCA-EU 7 98729500 98729500 single base substitution C G intron_variant BRCA-EU 7 98729510 98729510 single base substitution C T intron_variant BRCA-EU 7 98729907 98729907 single base substitution G C intron_variant BRCA-EU 7 98730646 98730646 single base substitution G A intron_variant BRCA-EU 7 98731009 98731009 single base substitution A T intron_variant BRCA-EU 7 98731806 98731806 deletion of <=200bp T - intron_variant BRCA-EU 7 98731829 98731829 single base substitution T A intron_variant BRCA-EU 7 98733548 98733548 single base substitution C G intron_variant BRCA-EU 7 98733800 98733800 single base substitution G A intron_variant BRCA-EU 7 98734122 98734122 single base substitution G C intron_variant BRCA-EU 7 98734323 98734323 single base substitution A G intron_variant BRCA-EU 7 98734465 98734465 single base substitution C T intron_variant BRCA-EU 7 98734510 98734510 single base substitution C T intron_variant BRCA-EU 7 98735861 98735861 single base substitution G A intron_variant BRCA-EU 7 98736392 98736392 single base substitution C T intron_variant BRCA-EU 7 98736465 98736466 deletion of <=200bp TA - intron_variant BRCA-EU 7 98739467 98739467 single base substitution G C intron_variant BRCA-EU 7 98740063 98740063 single base substitution G A intron_variant BRCA-EU 7 98740455 98740455 single base substitution G C intron_variant BRCA-EU 7 98740786 98740786 single base substitution G T intron_variant BRCA-EU 7 98741141 98741141 single base substitution G C intron_variant BRCA-EU 7 98744625 98744625 single base substitution G A upstream_gene_variant BRCA-EU 7 98745943 98745943 single base substitution G A upstream_gene_variant BRCA-EU 7 98746242 98746242 single base substitution T A upstream_gene_variant BRCA-EU 7 98746643 98746643 single base substitution C T upstream_gene_variant BRCA-FR 7 98622814 98622814 single base substitution T C downstream_gene_variant BRCA-FR 7 98626116 98626116 single base substitution G A 3_prime_UTR_variant BRCA-FR 7 98626127 98626127 single base substitution G T 3_prime_UTR_variant BRCA-FR 7 98627732 98627732 single base substitution G A 3_prime_UTR_variant BRCA-FR 7 98638050 98638050 single base substitution C G missense_variant D501H 1501G>C BRCA-FR 7 98638050 98638050 single base substitution C G missense_variant D527H 1579G>C BRCA-FR 7 98642484 98642484 single base substitution C T intron_variant BRCA-FR 7 98644700 98644700 single base substitution G C intron_variant BRCA-FR 7 98655607 98655607 single base substitution G A intron_variant BRCA-FR 7 98658590 98658590 single base substitution G C intron_variant BRCA-FR 7 98663996 98663996 single base substitution C T intron_variant BRCA-FR 7 98664418 98664418 single base substitution A G intron_variant BRCA-FR 7 98680936 98680936 single base substitution G A intron_variant BRCA-FR 7 98680936 98680936 single base substitution G A upstream_gene_variant BRCA-FR 7 98725927 98725927 single base substitution G A intron_variant BRCA-FR 7 98729907 98729907 single base substitution G C intron_variant BRCA-FR 7 98732763 98732763 single base substitution G C intron_variant BRCA-FR 7 98734203 98734203 single base substitution A G intron_variant BRCA-FR 7 98740063 98740063 single base substitution G A intron_variant BRCA-UK 7 98639705 98639705 single base substitution A C intron_variant BRCA-UK 7 98652844 98652844 single base substitution A G downstream_gene_variant BRCA-UK 7 98652844 98652844 single base substitution A G intron_variant BRCA-UK 7 98681111 98681111 single base substitution A C intron_variant BRCA-UK 7 98681111 98681111 single base substitution A C upstream_gene_variant BRCA-UK 7 98686055 98686055 single base substitution C G intron_variant BRCA-UK 7 98728667 98728667 single base substitution G C intron_variant BRCA-UK 7 98731829 98731829 single base substitution T A intron_variant BRCA-UK 7 98739445 98739445 single base substitution C T intron_variant BRCA-UK 7 98741498 98741498 single base substitution C G 5_prime_UTR_variant BRCA-UK 7 98741498 98741498 single base substitution C G exon_variant BRCA-US 7 98630674 98630674 single base substitution C T synonymous_variant P694P 2082G>A BRCA-US 7 98630674 98630674 single base substitution C T synonymous_variant P720P 2160G>A BRCA-US 7 98638117 98638117 single base substitution G T missense_variant H478Q 1434C>A BRCA-US 7 98638117 98638117 single base substitution G T missense_variant H504Q 1512C>A BRCA-US 7 98645333 98645333 single base substitution C T downstream_gene_variant BRCA-US 7 98645333 98645333 single base substitution C T missense_variant E376K 1126G>A BRCA-US 7 98645333 98645333 single base substitution C T missense_variant E402K 1204G>A BRCA-US 7 98648569 98648569 single base substitution A G downstream_gene_variant BRCA-US 7 98648569 98648569 single base substitution A G intron_variant BRCA-US 7 98648569 98648569 single base substitution A G missense_variant F285L 853T>C BTCA-JP 7 98630588 98630588 deletion of <=200bp A - intron_variant BTCA-JP 7 98630681 98630681 single base substitution T C missense_variant N692S 2075A>G BTCA-JP 7 98630681 98630681 single base substitution T C missense_variant N718S 2153A>G BTCA-JP 7 98637907 98637907 single base substitution T A intron_variant BTCA-JP 7 98637909 98637909 single base substitution C T intron_variant BTCA-JP 7 98643193 98643193 single base substitution G A intron_variant BTCA-JP 7 98652506 98652506 single base substitution G A downstream_gene_variant BTCA-JP 7 98652506 98652506 single base substitution G A intron_variant BTCA-JP 7 98741212 98741212 single base substitution G C intron_variant BTCA-JP 7 98741503 98741503 single base substitution C A 5_prime_UTR_variant BTCA-JP 7 98741503 98741503 single base substitution C A exon_variant CESC-US 7 98633342 98633342 single base substitution G A splice_region_variant CESC-US 7 98638144 98638144 single base substitution G A synonymous_variant I469I 1407C>T CESC-US 7 98638144 98638144 single base substitution G A synonymous_variant I495I 1485C>T CLLE-ES 7 98624840 98624840 single base substitution A C downstream_gene_variant CLLE-ES 7 98636012 98636012 single base substitution G A missense_variant R563W 1687C>T CLLE-ES 7 98636012 98636012 single base substitution G A missense_variant R589W 1765C>T CLLE-ES 7 98692378 98692378 single base substitution A G intron_variant CLLE-ES 7 98695069 98695069 insertion of <=200bp - A intron_variant COAD-US 7 98630731 98630731 single base substitution C T synonymous_variant A675A 2025G>A COAD-US 7 98630731 98630731 single base substitution C T synonymous_variant A701A 2103G>A COAD-US 7 98630732 98630732 single base substitution G A missense_variant A675V 2024C>T COAD-US 7 98630732 98630732 single base substitution G A missense_variant A701V 2102C>T COAD-US 7 98645333 98645333 single base substitution C T downstream_gene_variant COAD-US 7 98645333 98645333 single base substitution C T missense_variant E376K 1126G>A COAD-US 7 98645333 98645333 single base substitution C T missense_variant E402K 1204G>A COAD-US 7 98645414 98645414 single base substitution C T downstream_gene_variant COAD-US 7 98645414 98645414 single base substitution C T missense_variant E349K 1045G>A COAD-US 7 98645414 98645414 single base substitution C T missense_variant E375K 1123G>A COAD-US 7 98649911 98649911 single base substitution C T downstream_gene_variant COAD-US 7 98649911 98649911 single base substitution C T exon_variant COAD-US 7 98649911 98649911 single base substitution C T missense_variant R213Q 638G>A COAD-US 7 98650051 98650051 single base substitution G C downstream_gene_variant COAD-US 7 98650051 98650051 single base substitution G C exon_variant COAD-US 7 98650051 98650051 single base substitution G C synonymous_variant S166S 498C>G COAD-US 7 98654842 98654842 single base substitution C T exon_variant COAD-US 7 98654842 98654842 single base substitution C T missense_variant R130H 389G>A COCA-CN 7 98628334 98628334 insertion of <=200bp - A intron_variant COCA-CN 7 98637916 98637916 single base substitution A G intron_variant COCA-CN 7 98638091 98638091 single base substitution G T missense_variant P487H 1460C>A COCA-CN 7 98638091 98638091 single base substitution G T missense_variant P513H 1538C>A COCA-CN 7 98647290 98647290 single base substitution C T downstream_gene_variant COCA-CN 7 98647290 98647290 single base substitution C T synonymous_variant P283P 849G>A COCA-CN 7 98647290 98647290 single base substitution C T synonymous_variant P309P 927G>A COCA-CN 7 98648853 98648853 single base substitution G A downstream_gene_variant COCA-CN 7 98648853 98648853 single base substitution G A intron_variant COCA-CN 7 98649004 98649004 single base substitution G A downstream_gene_variant COCA-CN 7 98649004 98649004 single base substitution G A missense_variant T261M 782C>T COCA-CN 7 98650051 98650051 single base substitution G C downstream_gene_variant COCA-CN 7 98650051 98650051 single base substitution G C exon_variant COCA-CN 7 98650051 98650051 single base substitution G C synonymous_variant S166S 498C>G COCA-CN 7 98652505 98652505 single base substitution C T downstream_gene_variant COCA-CN 7 98652505 98652505 single base substitution C T intron_variant COCA-CN 7 98653004 98653004 single base substitution T C downstream_gene_variant COCA-CN 7 98653004 98653004 single base substitution T C intron_variant COCA-CN 7 98653905 98653905 single base substitution C A downstream_gene_variant COCA-CN 7 98653905 98653905 single base substitution C A intron_variant COCA-CN 7 98655069 98655069 single base substitution A G exon_variant COCA-CN 7 98655069 98655069 single base substitution A G synonymous_variant N103N 309T>C COCA-CN 7 98655153 98655153 single base substitution C T exon_variant COCA-CN 7 98655153 98655153 single base substitution C T synonymous_variant S75S 225G>A COCA-CN 7 98655225 98655225 single base substitution T G intron_variant COCA-CN 7 98655228 98655228 single base substitution G T intron_variant COCA-CN 7 98655232 98655232 single base substitution T G intron_variant COCA-CN 7 98655235 98655235 single base substitution T G intron_variant COCA-CN 7 98655236 98655236 single base substitution T G intron_variant COCA-CN 7 98657030 98657030 single base substitution T A intron_variant COCA-CN 7 98685836 98685836 single base substitution G A intron_variant COCA-CN 7 98691145 98691145 single base substitution A C intron_variant COCA-CN 7 98706259 98706259 single base substitution G A intron_variant COCA-CN 7 98731015 98731015 single base substitution G A intron_variant EOPC-DE 7 98654621 98654621 single base substitution A G downstream_gene_variant EOPC-DE 7 98654621 98654621 single base substitution A G intron_variant ESAD-UK 7 98622856 98622856 single base substitution G A downstream_gene_variant ESAD-UK 7 98625360 98625360 single base substitution A C 3_prime_UTR_variant ESAD-UK 7 98626318 98626318 single base substitution G T 3_prime_UTR_variant ESAD-UK 7 98627363 98627363 single base substitution G C 3_prime_UTR_variant ESAD-UK 7 98631114 98631114 single base substitution G A intron_variant ESAD-UK 7 98633853 98633853 single base substitution C T intron_variant ESAD-UK 7 98634616 98634616 single base substitution G A intron_variant ESAD-UK 7 98634870 98634870 insertion of <=200bp - T intron_variant ESAD-UK 7 98635412 98635412 single base substitution G A intron_variant ESAD-UK 7 98637917 98637922 deletion of <=200bp CGCGCG - intron_variant ESAD-UK 7 98638186 98638186 single base substitution G A splice_region_variant ESAD-UK 7 98640279 98640279 deletion of <=200bp A - intron_variant ESAD-UK 7 98640348 98640348 single base substitution C T intron_variant ESAD-UK 7 98644176 98644176 deletion of <=200bp C - intron_variant ESAD-UK 7 98645809 98645809 single base substitution G C downstream_gene_variant ESAD-UK 7 98645809 98645809 single base substitution G C intron_variant ESAD-UK 7 98645832 98645832 single base substitution G A downstream_gene_variant ESAD-UK 7 98645832 98645832 single base substitution G A intron_variant ESAD-UK 7 98652497 98652497 single base substitution G C downstream_gene_variant ESAD-UK 7 98652497 98652497 single base substitution G C intron_variant ESAD-UK 7 98655232 98655232 single base substitution T G intron_variant ESAD-UK 7 98655469 98655469 single base substitution C T intron_variant ESAD-UK 7 98655777 98655777 single base substitution G A intron_variant ESAD-UK 7 98657131 98657131 single base substitution A C intron_variant ESAD-UK 7 98657299 98657299 single base substitution G A intron_variant ESAD-UK 7 98657628 98657628 deletion of <=200bp T - intron_variant ESAD-UK 7 98659171 98659171 insertion of <=200bp - A intron_variant ESAD-UK 7 98659231 98659231 single base substitution G A intron_variant ESAD-UK 7 98659580 98659580 single base substitution T C intron_variant ESAD-UK 7 98662569 98662569 single base substitution C A intron_variant ESAD-UK 7 98663539 98663539 single base substitution C T intron_variant ESAD-UK 7 98664936 98664936 single base substitution T A intron_variant ESAD-UK 7 98665668 98665668 single base substitution A T intron_variant ESAD-UK 7 98667382 98667382 single base substitution G T intron_variant ESAD-UK 7 98668979 98668979 single base substitution G A intron_variant ESAD-UK 7 98669198 98669198 single base substitution T C intron_variant ESAD-UK 7 98673866 98673866 single base substitution T C intron_variant ESAD-UK 7 98674898 98674898 single base substitution G C intron_variant ESAD-UK 7 98678123 98678123 single base substitution T G intron_variant ESAD-UK 7 98679211 98679211 single base substitution C T intron_variant ESAD-UK 7 98679211 98679211 single base substitution C T upstream_gene_variant ESAD-UK 7 98680029 98680029 single base substitution A G intron_variant ESAD-UK 7 98680029 98680029 single base substitution A G upstream_gene_variant ESAD-UK 7 98680731 98680731 single base substitution T C intron_variant ESAD-UK 7 98680731 98680731 single base substitution T C upstream_gene_variant ESAD-UK 7 98680905 98680905 single base substitution C G intron_variant ESAD-UK 7 98680905 98680905 single base substitution C G upstream_gene_variant ESAD-UK 7 98680934 98680934 single base substitution C G intron_variant ESAD-UK 7 98680934 98680934 single base substitution C G upstream_gene_variant ESAD-UK 7 98681802 98681802 single base substitution A C intron_variant ESAD-UK 7 98681802 98681802 single base substitution A C upstream_gene_variant ESAD-UK 7 98683346 98683346 single base substitution C T intron_variant ESAD-UK 7 98683346 98683346 single base substitution C T upstream_gene_variant ESAD-UK 7 98685580 98685580 single base substitution T A intron_variant ESAD-UK 7 98687495 98687495 single base substitution A G intron_variant ESAD-UK 7 98687882 98687882 single base substitution G A intron_variant ESAD-UK 7 98692647 98692647 single base substitution C G intron_variant ESAD-UK 7 98693494 98693494 single base substitution G T intron_variant ESAD-UK 7 98696592 98696592 single base substitution G A intron_variant ESAD-UK 7 98701661 98701661 single base substitution C A intron_variant ESAD-UK 7 98704089 98704089 single base substitution A T intron_variant ESAD-UK 7 98709293 98709293 single base substitution G A intron_variant ESAD-UK 7 98713945 98713945 deletion of <=200bp T - intron_variant ESAD-UK 7 98715011 98715011 single base substitution G A intron_variant ESAD-UK 7 98716532 98716532 single base substitution T A intron_variant ESAD-UK 7 98718590 98718590 single base substitution A C intron_variant ESAD-UK 7 98718684 98718684 single base substitution G A intron_variant ESAD-UK 7 98721785 98721785 single base substitution G A intron_variant ESAD-UK 7 98723062 98723062 single base substitution A G intron_variant ESAD-UK 7 98723933 98723933 single base substitution C T intron_variant ESAD-UK 7 98724744 98724744 single base substitution T C intron_variant ESAD-UK 7 98726386 98726386 single base substitution G C intron_variant ESAD-UK 7 98726658 98726658 single base substitution T A intron_variant ESAD-UK 7 98727847 98727847 single base substitution G A intron_variant ESAD-UK 7 98730562 98730562 single base substitution G A intron_variant ESAD-UK 7 98733646 98733646 single base substitution A T intron_variant ESAD-UK 7 98736570 98736570 single base substitution G C intron_variant ESAD-UK 7 98743823 98743823 single base substitution A G upstream_gene_variant ESAD-UK 7 98744089 98744089 single base substitution C A upstream_gene_variant ESAD-UK 7 98744965 98744965 single base substitution A G upstream_gene_variant ESAD-UK 7 98746577 98746577 single base substitution G A upstream_gene_variant ESCA-CN 7 98643413 98643413 single base substitution G C synonymous_variant R388R 1164C>G ESCA-CN 7 98643413 98643413 single base substitution G C synonymous_variant R414R 1242C>G ESCA-CN 7 98645418 98645418 single base substitution T C downstream_gene_variant ESCA-CN 7 98645418 98645418 single base substitution T C synonymous_variant R347R 1041A>G ESCA-CN 7 98645418 98645418 single base substitution T C synonymous_variant R373R 1119A>G ESCA-CN 7 98648518 98648518 deletion of <=200bp G - downstream_gene_variant ESCA-CN 7 98648518 98648518 deletion of <=200bp G - intron_variant ESCA-CN 7 98649006 98649006 single base substitution G A downstream_gene_variant ESCA-CN 7 98649006 98649006 single base substitution G A synonymous_variant S260S 780C>T ESCA-CN 7 98652252 98652252 single base substitution C A downstream_gene_variant ESCA-CN 7 98652252 98652252 single base substitution C A intron_variant ESCA-CN 7 98654655 98654655 single base substitution T A downstream_gene_variant ESCA-CN 7 98654655 98654655 single base substitution T A intron_variant ESCA-CN 7 98655228 98655228 single base substitution G T intron_variant GBM-US 7 98636012 98636012 single base substitution G A missense_variant R563W 1687C>T GBM-US 7 98636012 98636012 single base substitution G A missense_variant R589W 1765C>T GBM-US 7 98636097 98636099 deletion of <=200bp GTT - inframe_deletion N534 GBM-US 7 98636097 98636099 deletion of <=200bp GTT - inframe_deletion N560 KIRC-US 7 98639741 98639741 single base substitution G C splice_region_variant LAML-KR 7 98663975 98663975 single base substitution A T intron_variant LAML-KR 7 98745977 98745977 single base substitution G A upstream_gene_variant LICA-FR 7 98626599 98626599 single base substitution T C 3_prime_UTR_variant LICA-FR 7 98650192 98650192 single base substitution C T downstream_gene_variant LICA-FR 7 98650192 98650192 single base substitution C T intron_variant LICA-FR 7 98672172 98672172 single base substitution G A intron_variant LICA-FR 7 98731721 98731722 deletion of <=200bp TT - intron_variant LICA-FR 7 98733050 98733050 single base substitution T C intron_variant LICA-FR 7 98740465 98740465 single base substitution A G intron_variant LIHC-US 7 98645348 98645348 single base substitution C A downstream_gene_variant LIHC-US 7 98645348 98645348 single base substitution C A missense_variant G371C 1111G>T LIHC-US 7 98645348 98645348 single base substitution C A missense_variant G397C 1189G>T LIHC-US 7 98655111 98655111 deletion of <=200bp T - exon_variant LIHC-US 7 98655111 98655111 deletion of <=200bp T - frameshift_variant K89 LINC-JP 7 98626014 98626014 single base substitution A C 3_prime_UTR_variant LINC-JP 7 98627274 98627274 single base substitution A C 3_prime_UTR_variant LINC-JP 7 98628308 98628308 single base substitution T A splice_acceptor_variant LINC-JP 7 98633083 98633083 single base substitution T C intron_variant LINC-JP 7 98633325 98633325 single base substitution G A synonymous_variant G608G 1824C>T LINC-JP 7 98633325 98633325 single base substitution G A synonymous_variant G634G 1902C>T LINC-JP 7 98633716 98633716 single base substitution T C intron_variant LINC-JP 7 98635991 98635991 single base substitution T G intron_variant LINC-JP 7 98639704 98639704 single base substitution A C intron_variant LINC-JP 7 98641570 98641570 single base substitution A T intron_variant LINC-JP 7 98648526 98648526 single base substitution G A downstream_gene_variant LINC-JP 7 98648526 98648526 single base substitution G A intron_variant LINC-JP 7 98649554 98649554 single base substitution T A downstream_gene_variant LINC-JP 7 98649554 98649554 single base substitution T A intron_variant LINC-JP 7 98651845 98651845 single base substitution T C downstream_gene_variant LINC-JP 7 98651845 98651845 single base substitution T C intron_variant LINC-JP 7 98667152 98667152 single base substitution T G intron_variant LINC-JP 7 98679199 98679199 single base substitution C A intron_variant LINC-JP 7 98679199 98679199 single base substitution C A upstream_gene_variant LINC-JP 7 98684465 98684465 single base substitution C T intron_variant LINC-JP 7 98688842 98688842 single base substitution A G intron_variant LINC-JP 7 98690338 98690338 single base substitution T C intron_variant LINC-JP 7 98722276 98722277 deletion of <=200bp AA - intron_variant LINC-JP 7 98736285 98736285 single base substitution T C intron_variant LIRI-JP 7 98625197 98625197 single base substitution A C 3_prime_UTR_variant LIRI-JP 7 98626329 98626329 single base substitution C A 3_prime_UTR_variant LIRI-JP 7 98626330 98626330 single base substitution A C 3_prime_UTR_variant LIRI-JP 7 98630019 98630019 single base substitution T C intron_variant LIRI-JP 7 98632562 98632562 single base substitution T A intron_variant LIRI-JP 7 98633493 98633493 single base substitution C T intron_variant LIRI-JP 7 98634344 98634344 single base substitution A G intron_variant LIRI-JP 7 98634347 98634347 single base substitution A G intron_variant LIRI-JP 7 98634482 98634482 single base substitution C A intron_variant LIRI-JP 7 98635226 98635226 single base substitution G T intron_variant LIRI-JP 7 98635702 98635702 deletion of <=200bp C - intron_variant LIRI-JP 7 98636521 98636521 single base substitution A G intron_variant LIRI-JP 7 98636580 98636580 single base substitution A G intron_variant LIRI-JP 7 98637524 98637524 single base substitution A T intron_variant LIRI-JP 7 98638028 98638028 single base substitution T A missense_variant E508V 1523A>T LIRI-JP 7 98638028 98638028 single base substitution T A missense_variant E534V 1601A>T LIRI-JP 7 98640747 98640747 single base substitution A C intron_variant LIRI-JP 7 98640784 98640784 single base substitution G T intron_variant LIRI-JP 7 98644940 98644940 single base substitution A C downstream_gene_variant LIRI-JP 7 98644940 98644940 single base substitution A C intron_variant LIRI-JP 7 98647673 98647673 single base substitution T C downstream_gene_variant LIRI-JP 7 98647673 98647673 single base substitution T C intron_variant LIRI-JP 7 98648340 98648340 single base substitution T G downstream_gene_variant LIRI-JP 7 98648340 98648340 single base substitution T G intron_variant LIRI-JP 7 98649215 98649215 single base substitution C T downstream_gene_variant LIRI-JP 7 98649215 98649215 single base substitution C T intron_variant LIRI-JP 7 98649438 98649438 single base substitution T C downstream_gene_variant LIRI-JP 7 98649438 98649438 single base substitution T C intron_variant LIRI-JP 7 98651578 98651578 single base substitution G A downstream_gene_variant LIRI-JP 7 98651578 98651578 single base substitution G A intron_variant LIRI-JP 7 98652684 98652684 single base substitution T G downstream_gene_variant LIRI-JP 7 98652684 98652684 single base substitution T G intron_variant LIRI-JP 7 98652745 98652745 single base substitution A G downstream_gene_variant LIRI-JP 7 98652745 98652745 single base substitution A G intron_variant LIRI-JP 7 98655385 98655385 single base substitution T C intron_variant LIRI-JP 7 98658778 98658778 single base substitution T C intron_variant LIRI-JP 7 98658868 98658868 single base substitution A C intron_variant LIRI-JP 7 98660576 98660576 single base substitution G A intron_variant LIRI-JP 7 98661587 98661587 single base substitution T C intron_variant LIRI-JP 7 98665282 98665282 single base substitution A C intron_variant LIRI-JP 7 98665499 98665499 single base substitution T A intron_variant LIRI-JP 7 98666204 98666204 single base substitution T C intron_variant LIRI-JP 7 98667452 98667452 single base substitution T C intron_variant LIRI-JP 7 98667673 98667673 single base substitution A G intron_variant LIRI-JP 7 98668587 98668587 single base substitution G T intron_variant LIRI-JP 7 98671668 98671668 single base substitution C A intron_variant LIRI-JP 7 98672110 98672110 single base substitution T C intron_variant LIRI-JP 7 98676500 98676500 single base substitution T A intron_variant LIRI-JP 7 98677383 98677383 single base substitution T C intron_variant LIRI-JP 7 98678217 98678217 single base substitution C T intron_variant LIRI-JP 7 98679177 98679177 single base substitution A C intron_variant LIRI-JP 7 98679177 98679177 single base substitution A C upstream_gene_variant LIRI-JP 7 98680150 98680150 single base substitution T C intron_variant LIRI-JP 7 98680150 98680150 single base substitution T C upstream_gene_variant LIRI-JP 7 98680453 98680453 single base substitution T C intron_variant LIRI-JP 7 98680453 98680453 single base substitution T C upstream_gene_variant LIRI-JP 7 98681111 98681111 single base substitution A T intron_variant LIRI-JP 7 98681111 98681111 single base substitution A T upstream_gene_variant LIRI-JP 7 98681112 98681112 single base substitution A C intron_variant LIRI-JP 7 98681112 98681112 single base substitution A C upstream_gene_variant LIRI-JP 7 98681226 98681226 single base substitution T C intron_variant LIRI-JP 7 98681226 98681226 single base substitution T C upstream_gene_variant LIRI-JP 7 98681842 98681842 single base substitution C G intron_variant LIRI-JP 7 98681842 98681842 single base substitution C G upstream_gene_variant LIRI-JP 7 98683940 98683940 single base substitution G C intron_variant LIRI-JP 7 98683940 98683940 single base substitution G C upstream_gene_variant LIRI-JP 7 98684986 98684986 single base substitution C A intron_variant LIRI-JP 7 98685698 98685698 single base substitution A T intron_variant LIRI-JP 7 98686313 98686316 deletion of <=200bp TAGT - intron_variant LIRI-JP 7 98688012 98688012 single base substitution C T intron_variant LIRI-JP 7 98688413 98688413 single base substitution C T intron_variant LIRI-JP 7 98689525 98689525 single base substitution C A intron_variant LIRI-JP 7 98693719 98693719 single base substitution C T intron_variant LIRI-JP 7 98695923 98695923 single base substitution C A intron_variant LIRI-JP 7 98696157 98696185 deletion of <=200bp ATTGACTCATATTTCTTCCCCATTGCAAC - intron_variant LIRI-JP 7 98696475 98696475 single base substitution A G intron_variant LIRI-JP 7 98696754 98696754 single base substitution C G intron_variant LIRI-JP 7 98697803 98697803 single base substitution T C intron_variant LIRI-JP 7 98700172 98700172 single base substitution T C intron_variant LIRI-JP 7 98704407 98704407 single base substitution A G intron_variant LIRI-JP 7 98704450 98704450 single base substitution A T intron_variant LIRI-JP 7 98704459 98704459 single base substitution A G intron_variant LIRI-JP 7 98705954 98705954 single base substitution C T intron_variant LIRI-JP 7 98710529 98710529 single base substitution T A intron_variant LIRI-JP 7 98712544 98712544 single base substitution T C intron_variant LIRI-JP 7 98713320 98713320 single base substitution T C intron_variant LIRI-JP 7 98713706 98713706 single base substitution T C intron_variant LIRI-JP 7 98713950 98713950 single base substitution T C intron_variant LIRI-JP 7 98715876 98715876 single base substitution A C intron_variant LIRI-JP 7 98715879 98715879 single base substitution T G intron_variant LIRI-JP 7 98716698 98716698 single base substitution T C intron_variant LIRI-JP 7 98718378 98718378 single base substitution G A exon_variant LIRI-JP 7 98718378 98718378 single base substitution G A intron_variant LIRI-JP 7 98720467 98720467 single base substitution A C intron_variant LIRI-JP 7 98721362 98721362 single base substitution T C intron_variant LIRI-JP 7 98721961 98721961 single base substitution T C intron_variant LIRI-JP 7 98722968 98722968 single base substitution C T intron_variant LIRI-JP 7 98724792 98724792 single base substitution G T intron_variant LIRI-JP 7 98726620 98726620 single base substitution A C intron_variant LIRI-JP 7 98729309 98729309 single base substitution C A intron_variant LIRI-JP 7 98729462 98729462 single base substitution G A intron_variant LIRI-JP 7 98729744 98729744 single base substitution T C intron_variant LIRI-JP 7 98731483 98731483 single base substitution T C intron_variant LIRI-JP 7 98731715 98731715 deletion of <=200bp A - intron_variant LIRI-JP 7 98731905 98731905 single base substitution A T intron_variant LIRI-JP 7 98732458 98732458 single base substitution G A intron_variant LIRI-JP 7 98734067 98734067 single base substitution T C intron_variant LIRI-JP 7 98734705 98734705 single base substitution T C intron_variant LIRI-JP 7 98734755 98734755 single base substitution T C intron_variant LIRI-JP 7 98734859 98734859 single base substitution T C intron_variant LIRI-JP 7 98734905 98734905 single base substitution T C intron_variant LIRI-JP 7 98735255 98735255 single base substitution G A intron_variant LIRI-JP 7 98736477 98736477 single base substitution T A intron_variant LIRI-JP 7 98736799 98736799 single base substitution C G intron_variant LIRI-JP 7 98736892 98736892 single base substitution G C intron_variant LIRI-JP 7 98739148 98739148 single base substitution A G intron_variant LIRI-JP 7 98739324 98739324 single base substitution G A intron_variant LIRI-JP 7 98739447 98739455 deletion of <=200bp TTCTCTCTT - intron_variant LIRI-JP 7 98739593 98739593 single base substitution T C intron_variant LIRI-JP 7 98739620 98739620 single base substitution T C intron_variant LIRI-JP 7 98742254 98742254 single base substitution C G upstream_gene_variant LIRI-JP 7 98745370 98745370 single base substitution C T upstream_gene_variant LIRI-JP 7 98745716 98745716 single base substitution T A upstream_gene_variant LUSC-KR 7 98636987 98636987 single base substitution G C intron_variant LUSC-KR 7 98644433 98644433 single base substitution G A intron_variant LUSC-KR 7 98644606 98644606 single base substitution G A intron_variant LUSC-KR 7 98645517 98645517 single base substitution G A downstream_gene_variant LUSC-KR 7 98645517 98645517 single base substitution G A intron_variant LUSC-KR 7 98645565 98645565 single base substitution C G downstream_gene_variant LUSC-KR 7 98645565 98645565 single base substitution C G intron_variant LUSC-KR 7 98647139 98647139 single base substitution C T downstream_gene_variant LUSC-KR 7 98647139 98647139 single base substitution C T intron_variant LUSC-KR 7 98648365 98648365 single base substitution C G downstream_gene_variant LUSC-KR 7 98648365 98648365 single base substitution C G intron_variant LUSC-KR 7 98650099 98650099 single base substitution T C downstream_gene_variant LUSC-KR 7 98650099 98650099 single base substitution T C intron_variant LUSC-KR 7 98650144 98650144 single base substitution C G downstream_gene_variant LUSC-KR 7 98650144 98650144 single base substitution C G intron_variant LUSC-KR 7 98653248 98653248 single base substitution G A downstream_gene_variant LUSC-KR 7 98653248 98653248 single base substitution G A intron_variant LUSC-KR 7 98654545 98654545 single base substitution G C downstream_gene_variant LUSC-KR 7 98654545 98654545 single base substitution G C intron_variant LUSC-KR 7 98655223 98655223 single base substitution G T intron_variant LUSC-KR 7 98655232 98655232 single base substitution T G intron_variant LUSC-KR 7 98660457 98660457 single base substitution C A intron_variant LUSC-KR 7 98674854 98674854 single base substitution A G intron_variant LUSC-KR 7 98676195 98676195 single base substitution C T intron_variant LUSC-KR 7 98688153 98688153 single base substitution C A intron_variant LUSC-KR 7 98691801 98691801 single base substitution A G intron_variant LUSC-KR 7 98692892 98692892 single base substitution G T intron_variant LUSC-KR 7 98701478 98701478 single base substitution T C intron_variant LUSC-KR 7 98711443 98711443 single base substitution C A intron_variant LUSC-KR 7 98719511 98719511 single base substitution G C intron_variant LUSC-KR 7 98724516 98724516 single base substitution G C intron_variant LUSC-KR 7 98726444 98726444 single base substitution G C intron_variant LUSC-KR 7 98726593 98726593 single base substitution G T intron_variant LUSC-KR 7 98727072 98727072 single base substitution T G intron_variant LUSC-KR 7 98728048 98728048 single base substitution C A intron_variant LUSC-KR 7 98728121 98728121 single base substitution C A intron_variant LUSC-KR 7 98736945 98736945 single base substitution T C intron_variant LUSC-KR 7 98737928 98737928 single base substitution G T intron_variant LUSC-KR 7 98742960 98742960 single base substitution C T upstream_gene_variant LUSC-KR 7 98743481 98743481 single base substitution A C upstream_gene_variant LUSC-US 7 98645444 98645444 single base substitution C A downstream_gene_variant LUSC-US 7 98645444 98645444 single base substitution C A stop_gained E339* 1015G>T LUSC-US 7 98645444 98645444 single base substitution C A stop_gained E365* 1093G>T LUSC-US 7 98645447 98645447 single base substitution G C downstream_gene_variant LUSC-US 7 98645447 98645447 single base substitution G C missense_variant L338V 1012C>G LUSC-US 7 98645447 98645447 single base substitution G C missense_variant L364V 1090C>G MALY-DE 7 98629454 98629454 single base substitution C T intron_variant MALY-DE 7 98637355 98637355 single base substitution G A intron_variant MALY-DE 7 98643030 98643030 single base substitution A G intron_variant MALY-DE 7 98649157 98649157 single base substitution A G downstream_gene_variant MALY-DE 7 98649157 98649157 single base substitution A G intron_variant MALY-DE 7 98657557 98657557 single base substitution A T intron_variant MALY-DE 7 98661936 98661936 single base substitution C T intron_variant MALY-DE 7 98665270 98665270 single base substitution A T intron_variant MALY-DE 7 98671217 98671217 single base substitution G A intron_variant MALY-DE 7 98673287 98673287 single base substitution A T intron_variant MALY-DE 7 98676817 98676817 single base substitution C A intron_variant MALY-DE 7 98684275 98684275 single base substitution G A intron_variant MALY-DE 7 98685280 98685280 single base substitution C T intron_variant MALY-DE 7 98686847 98686847 single base substitution C A intron_variant MALY-DE 7 98689325 98689325 single base substitution A C intron_variant MALY-DE 7 98693678 98693678 single base substitution T G intron_variant MALY-DE 7 98693786 98693786 single base substitution C T intron_variant MALY-DE 7 98704412 98704412 deletion of <=200bp T - intron_variant MALY-DE 7 98705827 98705827 single base substitution G A intron_variant MALY-DE 7 98711915 98711915 single base substitution C A intron_variant MALY-DE 7 98713278 98713278 single base substitution A G intron_variant MALY-DE 7 98713505 98713505 single base substitution T A intron_variant MALY-DE 7 98725516 98725516 single base substitution C T intron_variant MALY-DE 7 98730323 98730324 deletion of <=200bp AC - intron_variant MALY-DE 7 98735269 98735269 single base substitution G A intron_variant MELA-AU 7 98620149 98620149 single base substitution G T downstream_gene_variant MELA-AU 7 98620464 98620464 single base substitution G A downstream_gene_variant MELA-AU 7 98620480 98620480 single base substitution G A downstream_gene_variant MELA-AU 7 98620648 98620648 single base substitution A T downstream_gene_variant MELA-AU 7 98620841 98620841 single base substitution T A downstream_gene_variant MELA-AU 7 98621222 98621222 single base substitution G A downstream_gene_variant MELA-AU 7 98621718 98621718 single base substitution A G downstream_gene_variant MELA-AU 7 98622274 98622274 single base substitution A T downstream_gene_variant MELA-AU 7 98624069 98624069 single base substitution T A downstream_gene_variant MELA-AU 7 98624080 98624080 single base substitution A G downstream_gene_variant MELA-AU 7 98624786 98624786 single base substitution C T downstream_gene_variant MELA-AU 7 98625331 98625331 single base substitution G A 3_prime_UTR_variant MELA-AU 7 98625704 98625704 single base substitution G A 3_prime_UTR_variant MELA-AU 7 98627283 98627283 single base substitution C T 3_prime_UTR_variant MELA-AU 7 98627450 98627450 single base substitution A G 3_prime_UTR_variant MELA-AU 7 98627828 98627828 single base substitution C T 3_prime_UTR_variant MELA-AU 7 98628353 98628353 single base substitution G A intron_variant MELA-AU 7 98628836 98628836 single base substitution G A intron_variant MELA-AU 7 98628949 98628949 single base substitution T C intron_variant MELA-AU 7 98629662 98629662 single base substitution G A intron_variant MELA-AU 7 98629679 98629679 single base substitution G A intron_variant MELA-AU 7 98629821 98629821 single base substitution A G intron_variant MELA-AU 7 98634920 98634920 single base substitution G A intron_variant MELA-AU 7 98635472 98635472 single base substitution G A intron_variant MELA-AU 7 98636854 98636855 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 98637916 98637916 single base substitution A G intron_variant MELA-AU 7 98639345 98639345 single base substitution G A intron_variant MELA-AU 7 98640413 98640413 single base substitution C T intron_variant MELA-AU 7 98641058 98641058 single base substitution G A intron_variant MELA-AU 7 98642955 98642955 single base substitution T G intron_variant MELA-AU 7 98643296 98643296 single base substitution G C intron_variant MELA-AU 7 98643505 98643505 single base substitution G A intron_variant MELA-AU 7 98643642 98643642 single base substitution G A intron_variant MELA-AU 7 98644138 98644138 single base substitution G A intron_variant MELA-AU 7 98644785 98644785 single base substitution G A intron_variant MELA-AU 7 98645442 98645442 single base substitution C T downstream_gene_variant MELA-AU 7 98645442 98645442 single base substitution C T synonymous_variant E339E 1017G>A MELA-AU 7 98645442 98645442 single base substitution C T synonymous_variant E365E 1095G>A MELA-AU 7 98645938 98645938 single base substitution G A downstream_gene_variant MELA-AU 7 98645938 98645938 single base substitution G A intron_variant MELA-AU 7 98646920 98646920 single base substitution C T downstream_gene_variant MELA-AU 7 98646920 98646920 single base substitution C T intron_variant MELA-AU 7 98647291 98647291 single base substitution G A downstream_gene_variant MELA-AU 7 98647291 98647291 single base substitution G A missense_variant P283L 848C>T MELA-AU 7 98647291 98647291 single base substitution G A missense_variant P309L 926C>T MELA-AU 7 98648338 98648338 single base substitution G A downstream_gene_variant MELA-AU 7 98648338 98648338 single base substitution G A intron_variant MELA-AU 7 98648922 98648922 single base substitution G A downstream_gene_variant MELA-AU 7 98648922 98648922 single base substitution G A intron_variant MELA-AU 7 98648957 98648957 single base substitution G A downstream_gene_variant MELA-AU 7 98648957 98648957 single base substitution G A intron_variant MELA-AU 7 98649373 98649373 single base substitution G C downstream_gene_variant MELA-AU 7 98649373 98649373 single base substitution G C intron_variant MELA-AU 7 98649590 98649590 single base substitution G A downstream_gene_variant MELA-AU 7 98649590 98649590 single base substitution G A intron_variant MELA-AU 7 98651065 98651065 single base substitution A T downstream_gene_variant MELA-AU 7 98651065 98651065 single base substitution A T intron_variant MELA-AU 7 98651067 98651067 single base substitution A G downstream_gene_variant MELA-AU 7 98651067 98651067 single base substitution A G intron_variant MELA-AU 7 98652522 98652522 single base substitution C T downstream_gene_variant MELA-AU 7 98652522 98652522 single base substitution C T intron_variant MELA-AU 7 98653018 98653018 single base substitution G A downstream_gene_variant MELA-AU 7 98653018 98653018 single base substitution G A intron_variant MELA-AU 7 98653379 98653379 single base substitution G A downstream_gene_variant MELA-AU 7 98653379 98653379 single base substitution G A intron_variant MELA-AU 7 98653713 98653713 single base substitution T A downstream_gene_variant MELA-AU 7 98653713 98653713 single base substitution T A intron_variant MELA-AU 7 98655154 98655154 single base substitution G A exon_variant MELA-AU 7 98655154 98655154 single base substitution G A missense_variant S75L 224C>T MELA-AU 7 98655232 98655232 single base substitution T G intron_variant MELA-AU 7 98656502 98656502 single base substitution G A intron_variant MELA-AU 7 98657090 98657090 single base substitution T A intron_variant MELA-AU 7 98657158 98657158 single base substitution A C intron_variant MELA-AU 7 98657792 98657792 single base substitution G A intron_variant MELA-AU 7 98658163 98658163 single base substitution A T intron_variant MELA-AU 7 98658870 98658870 single base substitution T C intron_variant MELA-AU 7 98659659 98659659 single base substitution A G intron_variant MELA-AU 7 98660152 98660152 single base substitution A G intron_variant MELA-AU 7 98660363 98660363 single base substitution C T intron_variant MELA-AU 7 98662015 98662015 single base substitution G A intron_variant MELA-AU 7 98662963 98662963 single base substitution G A intron_variant MELA-AU 7 98663080 98663080 single base substitution T C intron_variant MELA-AU 7 98663282 98663282 single base substitution C T intron_variant MELA-AU 7 98663339 98663339 single base substitution G A intron_variant MELA-AU 7 98663546 98663546 deletion of <=200bp G - intron_variant MELA-AU 7 98663843 98663843 single base substitution G A intron_variant MELA-AU 7 98664049 98664049 single base substitution G A intron_variant MELA-AU 7 98665586 98665586 single base substitution A C intron_variant MELA-AU 7 98665710 98665710 single base substitution G A intron_variant MELA-AU 7 98665887 98665887 single base substitution G A intron_variant MELA-AU 7 98666032 98666032 single base substitution G A intron_variant MELA-AU 7 98666645 98666645 single base substitution G A intron_variant MELA-AU 7 98666984 98666984 single base substitution C T intron_variant MELA-AU 7 98667994 98667994 single base substitution G A intron_variant MELA-AU 7 98669057 98669057 single base substitution G A intron_variant MELA-AU 7 98669066 98669066 single base substitution G A intron_variant MELA-AU 7 98670050 98670050 single base substitution T C intron_variant MELA-AU 7 98670333 98670334 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 7 98670661 98670661 single base substitution A G intron_variant MELA-AU 7 98671207 98671207 single base substitution G A intron_variant MELA-AU 7 98671520 98671520 single base substitution C T intron_variant MELA-AU 7 98672268 98672268 single base substitution A T intron_variant MELA-AU 7 98673103 98673103 single base substitution C T intron_variant MELA-AU 7 98673957 98673957 single base substitution C T intron_variant MELA-AU 7 98674918 98674918 single base substitution G A intron_variant MELA-AU 7 98676518 98676518 single base substitution G A intron_variant MELA-AU 7 98676611 98676611 single base substitution G T intron_variant MELA-AU 7 98677387 98677387 single base substitution A T intron_variant MELA-AU 7 98677596 98677596 single base substitution G T intron_variant MELA-AU 7 98677806 98677806 single base substitution A C intron_variant MELA-AU 7 98678360 98678360 single base substitution G A intron_variant MELA-AU 7 98678645 98678645 deletion of <=200bp C - intron_variant MELA-AU 7 98679490 98679490 single base substitution G A intron_variant MELA-AU 7 98679490 98679490 single base substitution G A upstream_gene_variant MELA-AU 7 98680532 98680532 single base substitution G A intron_variant MELA-AU 7 98680532 98680532 single base substitution G A upstream_gene_variant MELA-AU 7 98680560 98680560 single base substitution C G intron_variant MELA-AU 7 98680560 98680560 single base substitution C G upstream_gene_variant MELA-AU 7 98680683 98680683 single base substitution G A intron_variant MELA-AU 7 98680683 98680683 single base substitution G A upstream_gene_variant MELA-AU 7 98680727 98680727 single base substitution C T intron_variant MELA-AU 7 98680727 98680727 single base substitution C T upstream_gene_variant MELA-AU 7 98682029 98682029 single base substitution G A intron_variant MELA-AU 7 98682029 98682029 single base substitution G A upstream_gene_variant MELA-AU 7 98682689 98682701 deletion of <=200bp GGTGGCCGGGCAC - intron_variant MELA-AU 7 98682689 98682701 deletion of <=200bp GGTGGCCGGGCAC - upstream_gene_variant MELA-AU 7 98683336 98683336 single base substitution G A intron_variant MELA-AU 7 98683336 98683336 single base substitution G A upstream_gene_variant MELA-AU 7 98683499 98683499 single base substitution C T intron_variant MELA-AU 7 98683499 98683499 single base substitution C T upstream_gene_variant MELA-AU 7 98683735 98683735 single base substitution G A intron_variant MELA-AU 7 98683735 98683735 single base substitution G A upstream_gene_variant MELA-AU 7 98684111 98684112 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 98684423 98684423 single base substitution G A intron_variant MELA-AU 7 98684539 98684539 single base substitution G A intron_variant MELA-AU 7 98684763 98684763 single base substitution G A intron_variant MELA-AU 7 98685281 98685281 single base substitution G A intron_variant MELA-AU 7 98686383 98686383 single base substitution A T intron_variant MELA-AU 7 98686481 98686481 single base substitution A G intron_variant MELA-AU 7 98687190 98687190 single base substitution G A intron_variant MELA-AU 7 98687481 98687481 single base substitution G A intron_variant MELA-AU 7 98687818 98687818 single base substitution G C intron_variant MELA-AU 7 98688149 98688149 single base substitution G A intron_variant MELA-AU 7 98688807 98688807 single base substitution G A intron_variant MELA-AU 7 98689930 98689930 single base substitution G A intron_variant MELA-AU 7 98690329 98690329 single base substitution G A intron_variant MELA-AU 7 98690640 98690640 single base substitution G A intron_variant MELA-AU 7 98691342 98691342 single base substitution A G intron_variant MELA-AU 7 98691901 98691901 single base substitution G A intron_variant MELA-AU 7 98692257 98692257 single base substitution G A intron_variant MELA-AU 7 98692684 98692684 single base substitution T A intron_variant MELA-AU 7 98693544 98693544 single base substitution G A intron_variant MELA-AU 7 98693596 98693597 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 98694297 98694297 single base substitution T G intron_variant MELA-AU 7 98694570 98694570 single base substitution G A intron_variant MELA-AU 7 98695362 98695362 single base substitution C T intron_variant MELA-AU 7 98695556 98695556 single base substitution T G intron_variant MELA-AU 7 98695711 98695711 single base substitution G A intron_variant MELA-AU 7 98696025 98696025 single base substitution T C intron_variant MELA-AU 7 98696127 98696127 single base substitution G A intron_variant MELA-AU 7 98696468 98696468 single base substitution C A intron_variant MELA-AU 7 98696908 98696908 single base substitution G T intron_variant MELA-AU 7 98698549 98698549 single base substitution G A intron_variant MELA-AU 7 98699855 98699855 single base substitution G T intron_variant MELA-AU 7 98700213 98700213 single base substitution G A intron_variant MELA-AU 7 98700438 98700438 deletion of <=200bp T - intron_variant MELA-AU 7 98700530 98700530 single base substitution G A intron_variant MELA-AU 7 98700785 98700785 single base substitution G A intron_variant MELA-AU 7 98701253 98701254 deletion of <=200bp CA - intron_variant MELA-AU 7 98701497 98701497 single base substitution G A intron_variant MELA-AU 7 98703134 98703134 single base substitution A T intron_variant MELA-AU 7 98703911 98703911 single base substitution G A intron_variant MELA-AU 7 98704371 98704371 single base substitution G A intron_variant MELA-AU 7 98705065 98705065 single base substitution T A intron_variant MELA-AU 7 98706025 98706025 single base substitution G A intron_variant MELA-AU 7 98707845 98707845 single base substitution A T intron_variant MELA-AU 7 98708083 98708083 single base substitution G T intron_variant MELA-AU 7 98709710 98709710 single base substitution G A intron_variant MELA-AU 7 98710720 98710720 single base substitution G A intron_variant MELA-AU 7 98710861 98710861 single base substitution T C intron_variant MELA-AU 7 98711116 98711116 single base substitution T C intron_variant MELA-AU 7 98711369 98711369 single base substitution G A intron_variant MELA-AU 7 98711473 98711473 single base substitution A T intron_variant MELA-AU 7 98711531 98711531 single base substitution G C intron_variant MELA-AU 7 98712007 98712007 single base substitution C T intron_variant MELA-AU 7 98712055 98712055 single base substitution G A intron_variant MELA-AU 7 98712886 98712886 single base substitution G A intron_variant MELA-AU 7 98712893 98712893 single base substitution G A intron_variant MELA-AU 7 98712992 98712992 single base substitution G A intron_variant MELA-AU 7 98713304 98713304 single base substitution G A intron_variant MELA-AU 7 98713909 98713910 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 98714590 98714590 single base substitution A T intron_variant MELA-AU 7 98715056 98715056 single base substitution C T intron_variant MELA-AU 7 98715367 98715367 single base substitution G A intron_variant MELA-AU 7 98715478 98715479 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 98717345 98717345 single base substitution G A intron_variant MELA-AU 7 98718607 98718607 single base substitution G A intron_variant MELA-AU 7 98719516 98719516 single base substitution C T intron_variant MELA-AU 7 98720456 98720456 single base substitution G A intron_variant MELA-AU 7 98720552 98720552 single base substitution C T intron_variant MELA-AU 7 98722321 98722321 single base substitution G A intron_variant MELA-AU 7 98723318 98723318 single base substitution G A intron_variant MELA-AU 7 98725141 98725141 single base substitution C T intron_variant MELA-AU 7 98725536 98725536 single base substitution G A intron_variant MELA-AU 7 98725844 98725844 single base substitution C T intron_variant MELA-AU 7 98726179 98726179 single base substitution C T intron_variant MELA-AU 7 98728354 98728355 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 98729080 98729080 single base substitution G A intron_variant MELA-AU 7 98729404 98729404 single base substitution A G intron_variant MELA-AU 7 98731114 98731114 single base substitution G A intron_variant MELA-AU 7 98731170 98731170 single base substitution A G intron_variant MELA-AU 7 98732553 98732553 single base substitution G A intron_variant MELA-AU 7 98733565 98733565 single base substitution G A intron_variant MELA-AU 7 98733971 98733971 single base substitution G A intron_variant MELA-AU 7 98734390 98734390 single base substitution G A intron_variant MELA-AU 7 98734690 98734690 single base substitution G A intron_variant MELA-AU 7 98736019 98736019 single base substitution C T intron_variant MELA-AU 7 98736349 98736349 single base substitution G A intron_variant MELA-AU 7 98738236 98738236 single base substitution G A intron_variant MELA-AU 7 98738513 98738513 single base substitution G A intron_variant MELA-AU 7 98738718 98738718 single base substitution G A intron_variant MELA-AU 7 98738873 98738873 single base substitution C T intron_variant MELA-AU 7 98739447 98739447 single base substitution T A intron_variant MELA-AU 7 98739524 98739524 single base substitution G A intron_variant MELA-AU 7 98739603 98739603 single base substitution C T intron_variant MELA-AU 7 98740124 98740124 single base substitution T A intron_variant MELA-AU 7 98740199 98740199 single base substitution G A intron_variant MELA-AU 7 98740203 98740203 single base substitution G A intron_variant MELA-AU 7 98740499 98740499 single base substitution G A intron_variant MELA-AU 7 98740529 98740529 single base substitution G A intron_variant MELA-AU 7 98741014 98741014 single base substitution G A intron_variant MELA-AU 7 98741885 98741885 single base substitution C T upstream_gene_variant MELA-AU 7 98743359 98743359 single base substitution G A upstream_gene_variant MELA-AU 7 98743865 98743865 single base substitution C T upstream_gene_variant MELA-AU 7 98743903 98743903 single base substitution C T upstream_gene_variant MELA-AU 7 98743938 98743938 single base substitution T G upstream_gene_variant MELA-AU 7 98744322 98744322 single base substitution G A upstream_gene_variant MELA-AU 7 98744461 98744461 single base substitution C T upstream_gene_variant MELA-AU 7 98744681 98744681 single base substitution G A upstream_gene_variant MELA-AU 7 98744988 98744988 single base substitution G A upstream_gene_variant MELA-AU 7 98746093 98746093 single base substitution C T upstream_gene_variant MELA-AU 7 98746300 98746300 single base substitution G A upstream_gene_variant MELA-AU 7 98746590 98746590 single base substitution C T upstream_gene_variant MELA-AU 7 98746617 98746617 single base substitution C T upstream_gene_variant MELA-AU 7 98746709 98746709 single base substitution G A upstream_gene_variant ORCA-IN 7 98638134 98638134 single base substitution C A missense_variant A473S 1417G>T ORCA-IN 7 98638134 98638134 single base substitution C A missense_variant A499S 1495G>T ORCA-IN 7 98648555 98648555 single base substitution G T downstream_gene_variant ORCA-IN 7 98648555 98648555 single base substitution G T intron_variant ORCA-IN 7 98648555 98648555 single base substitution G T synonymous_variant G289G 867C>A ORCA-IN 7 98649894 98649894 single base substitution C A downstream_gene_variant ORCA-IN 7 98649894 98649894 single base substitution C A exon_variant ORCA-IN 7 98649894 98649894 single base substitution C A missense_variant G219C 655G>T ORCA-IN 7 98649912 98649912 single base substitution G A downstream_gene_variant ORCA-IN 7 98649912 98649912 single base substitution G A exon_variant ORCA-IN 7 98649912 98649912 single base substitution G A stop_gained R213* 637C>T ORCA-IN 7 98655840 98655840 single base substitution T C intron_variant ORCA-IN 7 98660612 98660612 single base substitution G A intron_variant ORCA-IN 7 98679142 98679142 single base substitution G C intron_variant ORCA-IN 7 98679142 98679142 single base substitution G C upstream_gene_variant ORCA-IN 7 98714277 98714277 single base substitution C A intron_variant OV-AU 7 98622174 98622174 single base substitution T C downstream_gene_variant OV-AU 7 98631014 98631014 single base substitution A G intron_variant OV-AU 7 98635109 98635109 single base substitution G A intron_variant OV-AU 7 98636689 98636689 single base substitution G A intron_variant OV-AU 7 98644385 98644385 single base substitution A T intron_variant OV-AU 7 98644675 98644675 single base substitution A G intron_variant OV-AU 7 98649569 98649569 single base substitution G T downstream_gene_variant OV-AU 7 98649569 98649569 single base substitution G T intron_variant OV-AU 7 98653523 98653523 single base substitution A G downstream_gene_variant OV-AU 7 98653523 98653523 single base substitution A G intron_variant OV-AU 7 98653952 98653952 single base substitution G C downstream_gene_variant OV-AU 7 98653952 98653952 single base substitution G C intron_variant OV-AU 7 98662040 98662040 single base substitution G C intron_variant OV-AU 7 98662195 98662195 single base substitution C G intron_variant OV-AU 7 98662923 98662923 single base substitution C T intron_variant OV-AU 7 98667906 98667906 single base substitution C G intron_variant OV-AU 7 98670892 98670892 single base substitution C G intron_variant OV-AU 7 98674824 98674824 single base substitution A G intron_variant OV-AU 7 98680815 98680815 single base substitution T C intron_variant OV-AU 7 98680815 98680815 single base substitution T C upstream_gene_variant OV-AU 7 98685252 98685252 single base substitution G C intron_variant OV-AU 7 98685711 98685711 single base substitution C G intron_variant OV-AU 7 98687367 98687367 single base substitution G T intron_variant OV-AU 7 98704350 98704350 single base substitution T C intron_variant OV-AU 7 98705058 98705058 single base substitution A C intron_variant OV-AU 7 98715035 98715035 single base substitution G T intron_variant OV-AU 7 98718473 98718473 single base substitution T C intron_variant OV-AU 7 98721734 98721734 single base substitution C G intron_variant OV-AU 7 98725408 98725408 single base substitution T C intron_variant OV-AU 7 98728072 98728072 single base substitution G C intron_variant OV-AU 7 98739320 98739320 single base substitution G C intron_variant OV-AU 7 98741906 98741906 single base substitution C G upstream_gene_variant PACA-AU 7 98637139 98637139 single base substitution T A intron_variant PACA-AU 7 98644529 98644529 single base substitution A G intron_variant PACA-AU 7 98652931 98652931 single base substitution A C downstream_gene_variant PACA-AU 7 98652931 98652931 single base substitution A C intron_variant PACA-AU 7 98657307 98657307 single base substitution T G intron_variant PACA-AU 7 98658201 98658201 single base substitution C T intron_variant PACA-AU 7 98661017 98661017 single base substitution G T intron_variant PACA-AU 7 98662053 98662053 single base substitution A T intron_variant PACA-AU 7 98669696 98669696 single base substitution C T intron_variant PACA-AU 7 98670216 98670216 single base substitution A C intron_variant PACA-AU 7 98673269 98673269 single base substitution A C intron_variant PACA-AU 7 98675499 98675499 single base substitution A G intron_variant PACA-AU 7 98675927 98675927 single base substitution A C intron_variant PACA-AU 7 98682203 98682203 single base substitution G A intron_variant PACA-AU 7 98682203 98682203 single base substitution G A upstream_gene_variant PACA-AU 7 98690093 98690093 single base substitution A G intron_variant PACA-AU 7 98691070 98691070 single base substitution C A intron_variant PACA-AU 7 98694706 98694706 single base substitution A C intron_variant PACA-AU 7 98695126 98695126 single base substitution T A intron_variant PACA-AU 7 98695749 98695749 single base substitution A G intron_variant PACA-AU 7 98704580 98704580 single base substitution T C intron_variant PACA-AU 7 98706079 98706081 deletion of <=200bp AAA - intron_variant PACA-AU 7 98710636 98710636 single base substitution G C intron_variant PACA-AU 7 98714106 98714106 single base substitution A C intron_variant PACA-AU 7 98714137 98714137 single base substitution G A intron_variant PACA-AU 7 98715422 98715422 single base substitution G C intron_variant PACA-AU 7 98718445 98718445 single base substitution C A intron_variant PACA-AU 7 98722241 98722241 single base substitution G A intron_variant PACA-AU 7 98724928 98724928 single base substitution G T intron_variant PACA-AU 7 98724936 98724936 single base substitution C T intron_variant PACA-AU 7 98726500 98726500 single base substitution C T intron_variant PACA-AU 7 98730738 98730738 single base substitution A C intron_variant PACA-AU 7 98730741 98730741 single base substitution C A intron_variant PACA-AU 7 98734747 98734747 single base substitution C A intron_variant PACA-AU 7 98735419 98735419 deletion of <=200bp T - intron_variant PACA-AU 7 98738713 98738718 deletion of <=200bp GAAAGG - intron_variant PACA-AU 7 98740179 98740179 single base substitution G A intron_variant PACA-AU 7 98741660 98741660 single base substitution G T 5_prime_UTR_variant PACA-AU 7 98741660 98741660 single base substitution G T upstream_gene_variant PACA-AU 7 98743166 98743166 single base substitution C T upstream_gene_variant PACA-AU 7 98746526 98746526 single base substitution T G upstream_gene_variant PACA-CA 7 98620590 98620590 single base substitution C G downstream_gene_variant PACA-CA 7 98621048 98621048 single base substitution C G downstream_gene_variant PACA-CA 7 98621161 98621161 single base substitution C G downstream_gene_variant PACA-CA 7 98621200 98621200 single base substitution C A downstream_gene_variant PACA-CA 7 98621262 98621262 single base substitution C G downstream_gene_variant PACA-CA 7 98621493 98621493 single base substitution C T downstream_gene_variant PACA-CA 7 98622602 98622602 single base substitution C A downstream_gene_variant PACA-CA 7 98624816 98624816 single base substitution A G downstream_gene_variant PACA-CA 7 98631358 98631358 single base substitution C G intron_variant PACA-CA 7 98635105 98635105 single base substitution G A intron_variant PACA-CA 7 98636215 98636215 single base substitution G A intron_variant PACA-CA 7 98637077 98637077 single base substitution T G intron_variant PACA-CA 7 98638353 98638353 single base substitution G A intron_variant PACA-CA 7 98647350 98647350 single base substitution A G downstream_gene_variant PACA-CA 7 98647350 98647350 single base substitution A G intron_variant PACA-CA 7 98655870 98655870 single base substitution A G intron_variant PACA-CA 7 98662732 98662732 single base substitution C T intron_variant PACA-CA 7 98664418 98664418 single base substitution A G intron_variant PACA-CA 7 98666464 98666464 single base substitution A T intron_variant PACA-CA 7 98666732 98666732 single base substitution A G intron_variant PACA-CA 7 98668569 98668569 insertion of <=200bp - AT intron_variant PACA-CA 7 98672051 98672051 deletion of <=200bp A - intron_variant PACA-CA 7 98673894 98673894 single base substitution A G intron_variant PACA-CA 7 98674525 98674525 single base substitution T G intron_variant PACA-CA 7 98674918 98674918 single base substitution G A intron_variant PACA-CA 7 98674919 98674919 single base substitution G A intron_variant PACA-CA 7 98677370 98677370 single base substitution G C intron_variant PACA-CA 7 98677402 98677402 single base substitution C T intron_variant PACA-CA 7 98677406 98677406 single base substitution C T intron_variant PACA-CA 7 98684276 98684276 single base substitution A G intron_variant PACA-CA 7 98699038 98699038 single base substitution G T intron_variant PACA-CA 7 98701654 98701654 single base substitution C T intron_variant PACA-CA 7 98705874 98705874 single base substitution T G intron_variant PACA-CA 7 98707429 98707429 single base substitution A G intron_variant PACA-CA 7 98708752 98708752 single base substitution A G intron_variant PACA-CA 7 98710888 98710888 single base substitution C A intron_variant PACA-CA 7 98712055 98712055 single base substitution G A intron_variant PACA-CA 7 98715333 98715333 single base substitution C T intron_variant PACA-CA 7 98720082 98720082 single base substitution C A intron_variant PACA-CA 7 98726604 98726617 deletion of <=200bp CAATGTTAAGTTTA - intron_variant PACA-CA 7 98736876 98736876 single base substitution C T intron_variant PACA-CA 7 98736984 98736984 single base substitution C T intron_variant PACA-CA 7 98740419 98740419 single base substitution G T intron_variant PAEN-AU 7 98631161 98631161 single base substitution A C intron_variant PAEN-AU 7 98648528 98648528 single base substitution T C downstream_gene_variant PAEN-AU 7 98648528 98648528 single base substitution T C intron_variant PAEN-AU 7 98668230 98668230 single base substitution A T intron_variant PAEN-AU 7 98671118 98671118 single base substitution T G intron_variant PAEN-AU 7 98687663 98687663 single base substitution C A intron_variant PAEN-AU 7 98726398 98726398 single base substitution T C intron_variant PAEN-AU 7 98742818 98742818 single base substitution A G upstream_gene_variant PAEN-IT 7 98626476 98626476 single base substitution G C 3_prime_UTR_variant PAEN-IT 7 98640177 98640177 single base substitution C T intron_variant PAEN-IT 7 98672985 98672985 single base substitution T G intron_variant PAEN-IT 7 98719675 98719675 single base substitution G A intron_variant PAEN-IT 7 98724989 98724989 single base substitution A G intron_variant PAEN-IT 7 98745134 98745134 single base substitution C T upstream_gene_variant PBCA-DE 7 98632700 98632701 deletion of <=200bp AG - intron_variant PBCA-DE 7 98645338 98645338 single base substitution C T downstream_gene_variant PBCA-DE 7 98645338 98645338 single base substitution C T missense_variant R374H 1121G>A PBCA-DE 7 98645338 98645338 single base substitution C T missense_variant R400H 1199G>A PBCA-DE 7 98654557 98654557 single base substitution C T downstream_gene_variant PBCA-DE 7 98654557 98654557 single base substitution C T intron_variant PBCA-DE 7 98677146 98677146 single base substitution G A intron_variant PBCA-DE 7 98684183 98684183 single base substitution G T intron_variant PBCA-DE 7 98728377 98728377 single base substitution T A intron_variant PBCA-DE 7 98730323 98730324 deletion of <=200bp AC - intron_variant PBCA-DE 7 98730458 98730458 single base substitution T C intron_variant PRAD-CA 7 98640783 98640783 single base substitution C G intron_variant PRAD-CA 7 98651909 98651909 single base substitution G A downstream_gene_variant PRAD-CA 7 98651909 98651909 single base substitution G A intron_variant PRAD-CA 7 98657035 98657035 single base substitution T A intron_variant PRAD-CA 7 98670771 98670771 single base substitution C T intron_variant PRAD-CA 7 98679892 98679892 single base substitution C T intron_variant PRAD-CA 7 98679892 98679892 single base substitution C T upstream_gene_variant PRAD-CA 7 98684841 98684841 single base substitution A T intron_variant PRAD-CA 7 98709493 98709493 single base substitution T A intron_variant PRAD-CA 7 98737713 98737713 single base substitution T C intron_variant PRAD-CA 7 98745338 98745338 single base substitution C T upstream_gene_variant PRAD-UK 7 98620575 98620579 deletion of <=200bp GAAAA - downstream_gene_variant PRAD-UK 7 98662273 98662273 single base substitution T A intron_variant PRAD-UK 7 98701519 98701519 insertion of <=200bp - C intron_variant PRAD-UK 7 98724510 98724510 single base substitution C G intron_variant PRAD-UK 7 98727387 98727387 single base substitution G A intron_variant PRAD-UK 7 98731527 98731527 single base substitution G A intron_variant RECA-EU 7 98647109 98647109 single base substitution T G downstream_gene_variant RECA-EU 7 98647109 98647109 single base substitution T G intron_variant RECA-EU 7 98647247 98647247 single base substitution A C downstream_gene_variant RECA-EU 7 98647247 98647247 single base substitution A C missense_variant F298V 892T>G RECA-EU 7 98647247 98647247 single base substitution A C missense_variant F324V 970T>G RECA-EU 7 98650113 98650113 single base substitution A T downstream_gene_variant RECA-EU 7 98650113 98650113 single base substitution A T intron_variant RECA-EU 7 98679008 98679008 single base substitution T A exon_variant RECA-EU 7 98679008 98679008 single base substitution T A intron_variant RECA-EU 7 98679651 98679651 single base substitution G C intron_variant RECA-EU 7 98679651 98679651 single base substitution G C upstream_gene_variant RECA-EU 7 98697162 98697162 single base substitution C T intron_variant RECA-EU 7 98705504 98705504 single base substitution G T intron_variant RECA-EU 7 98705509 98705509 single base substitution C A intron_variant RECA-EU 7 98713965 98713965 single base substitution T C intron_variant RECA-EU 7 98716973 98716973 single base substitution C T intron_variant RECA-EU 7 98718569 98718569 single base substitution A G intron_variant RECA-EU 7 98725400 98725400 single base substitution T G intron_variant RECA-EU 7 98733091 98733091 single base substitution T G intron_variant RECA-EU 7 98737425 98737425 single base substitution T C intron_variant RECA-EU 7 98738100 98738100 single base substitution G A intron_variant SKCA-BR 7 98620104 98620104 single base substitution T G downstream_gene_variant SKCA-BR 7 98620728 98620729 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 7 98622430 98622430 single base substitution T C downstream_gene_variant SKCA-BR 7 98624581 98624581 single base substitution T G downstream_gene_variant SKCA-BR 7 98624586 98624586 single base substitution A G downstream_gene_variant SKCA-BR 7 98624643 98624643 single base substitution T A downstream_gene_variant SKCA-BR 7 98624832 98624832 single base substitution G A downstream_gene_variant SKCA-BR 7 98630587 98630587 insertion of <=200bp - CA intron_variant SKCA-BR 7 98634817 98634817 single base substitution G A splice_region_variant SKCA-BR 7 98638041 98638041 single base substitution A G missense_variant S504P 1510T>C SKCA-BR 7 98638041 98638041 single base substitution A G missense_variant S530P 1588T>C SKCA-BR 7 98638320 98638320 single base substitution C T intron_variant SKCA-BR 7 98638559 98638559 single base substitution C T intron_variant SKCA-BR 7 98641315 98641315 single base substitution C A intron_variant SKCA-BR 7 98644388 98644388 single base substitution T A intron_variant SKCA-BR 7 98648184 98648184 single base substitution T A downstream_gene_variant SKCA-BR 7 98648184 98648184 single base substitution T A intron_variant SKCA-BR 7 98654600 98654600 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 7 98654600 98654600 insertion of <=200bp - CA intron_variant SKCA-BR 7 98654615 98654616 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 7 98654615 98654616 deletion of <=200bp CA - intron_variant SKCA-BR 7 98657030 98657030 single base substitution T A intron_variant SKCA-BR 7 98657241 98657241 single base substitution G A intron_variant SKCA-BR 7 98660866 98660866 single base substitution A T intron_variant SKCA-BR 7 98663066 98663066 single base substitution C T intron_variant SKCA-BR 7 98663387 98663387 single base substitution G A intron_variant SKCA-BR 7 98667168 98667168 single base substitution G A intron_variant SKCA-BR 7 98669469 98669469 single base substitution G A intron_variant SKCA-BR 7 98671082 98671082 single base substitution T G intron_variant SKCA-BR 7 98671116 98671116 single base substitution A T intron_variant SKCA-BR 7 98671511 98671511 single base substitution C T intron_variant SKCA-BR 7 98671827 98671827 single base substitution C A intron_variant SKCA-BR 7 98680587 98680587 single base substitution C T intron_variant SKCA-BR 7 98680587 98680587 single base substitution C T upstream_gene_variant SKCA-BR 7 98681075 98681075 single base substitution G A intron_variant SKCA-BR 7 98681075 98681075 single base substitution G A upstream_gene_variant SKCA-BR 7 98682343 98682343 single base substitution C T intron_variant SKCA-BR 7 98682343 98682343 single base substitution C T upstream_gene_variant SKCA-BR 7 98686924 98686924 single base substitution A T intron_variant SKCA-BR 7 98686925 98686925 single base substitution A C intron_variant SKCA-BR 7 98687353 98687353 single base substitution A C intron_variant SKCA-BR 7 98691133 98691143 deletion of <=200bp CACTCTATAAT - intron_variant SKCA-BR 7 98691145 98691145 single base substitution A C intron_variant SKCA-BR 7 98697731 98697733 deletion of <=200bp TAA - intron_variant SKCA-BR 7 98699029 98699029 single base substitution A C intron_variant SKCA-BR 7 98701812 98701812 single base substitution G A intron_variant SKCA-BR 7 98705185 98705185 single base substitution T C intron_variant SKCA-BR 7 98706234 98706234 insertion of <=200bp - CA intron_variant SKCA-BR 7 98708843 98708843 single base substitution A G intron_variant SKCA-BR 7 98714679 98714679 insertion of <=200bp - AT intron_variant SKCA-BR 7 98719565 98719565 single base substitution A G intron_variant SKCA-BR 7 98725552 98725552 single base substitution G A intron_variant SKCA-BR 7 98729805 98729827 deletion of <=200bp CAACCTGTAATTGCTTGATCTCT - intron_variant SKCA-BR 7 98730322 98730322 insertion of <=200bp - GACAC intron_variant SKCA-BR 7 98730738 98730738 insertion of <=200bp - ACACC intron_variant SKCA-BR 7 98735340 98735340 single base substitution G A intron_variant SKCA-BR 7 98737904 98737904 single base substitution C T intron_variant SKCA-BR 7 98738872 98738872 single base substitution C T intron_variant SKCA-BR 7 98739874 98739874 insertion of <=200bp - CT intron_variant SKCA-BR 7 98742561 98742561 single base substitution T C upstream_gene_variant SKCA-BR 7 98742711 98742715 deletion of <=200bp AACAC - upstream_gene_variant SKCA-BR 7 98744405 98744405 single base substitution C T upstream_gene_variant SKCA-BR 7 98744814 98744814 single base substitution G A upstream_gene_variant SKCA-BR 7 98745642 98745642 insertion of <=200bp - TA upstream_gene_variant SKCA-BR 7 98746089 98746089 single base substitution C T upstream_gene_variant SKCM-US 7 98643359 98643359 single base substitution G A synonymous_variant F406F 1218C>T SKCM-US 7 98643359 98643359 single base substitution G A synonymous_variant F432F 1296C>T SKCM-US 7 98645495 98645495 single base substitution G A downstream_gene_variant SKCM-US 7 98645495 98645495 single base substitution G A stop_gained Q322* 964C>T SKCM-US 7 98645495 98645495 single base substitution G A stop_gained Q348* 1042C>T SKCM-US 7 98652473 98652473 single base substitution C T downstream_gene_variant SKCM-US 7 98652473 98652473 single base substitution C T exon_variant SKCM-US 7 98652473 98652473 single base substitution C T missense_variant R140Q 419G>A STAD-US 7 98636091 98636091 single base substitution G A synonymous_variant F536F 1608C>T STAD-US 7 98636091 98636091 single base substitution G A synonymous_variant F562F 1686C>T STAD-US 7 98638150 98638150 single base substitution C T synonymous_variant G467G 1401G>A STAD-US 7 98638150 98638150 single base substitution C T synonymous_variant G493G 1479G>A STAD-US 7 98647228 98647228 single base substitution C T downstream_gene_variant STAD-US 7 98647228 98647228 single base substitution C T missense_variant R304Q 911G>A STAD-US 7 98647228 98647228 single base substitution C T missense_variant R330Q 989G>A STAD-US 7 98649829 98649829 single base substitution G A downstream_gene_variant STAD-US 7 98649829 98649829 single base substitution G A splice_region_variant STAD-US 7 98649848 98649848 single base substitution G A downstream_gene_variant STAD-US 7 98649848 98649848 single base substitution G A exon_variant STAD-US 7 98649848 98649848 single base substitution G A missense_variant P234L 701C>T STAD-US 7 98655043 98655043 single base substitution C T missense_variant G112E 335G>A STAD-US 7 98655043 98655043 single base substitution C T splice_region_variant STAD-US 7 98655069 98655069 single base substitution A C exon_variant STAD-US 7 98655069 98655069 single base substitution A C missense_variant N103K 309T>G STAD-US 7 98655080 98655080 single base substitution G A exon_variant STAD-US 7 98655080 98655080 single base substitution G A synonymous_variant L100L 298C>T STAD-US 7 98655120 98655120 single base substitution A T exon_variant STAD-US 7 98655120 98655120 single base substitution A T synonymous_variant I86I 258T>A STAD-US 7 98655153 98655153 single base substitution C T exon_variant STAD-US 7 98655153 98655153 single base substitution C T synonymous_variant S75S 225G>A STAD-US 7 98658259 98658259 single base substitution T C exon_variant STAD-US 7 98658259 98658259 single base substitution T C missense_variant N56D 166A>G UCEC-US 7 98633220 98633220 single base substitution G A synonymous_variant F643F 1929C>T UCEC-US 7 98633220 98633220 single base substitution G A synonymous_variant F669F 2007C>T UCEC-US 7 98633233 98633233 single base substitution G A missense_variant A639V 1916C>T UCEC-US 7 98633233 98633233 single base substitution G A missense_variant A665V 1994C>T UCEC-US 7 98633252 98633252 single base substitution C T missense_variant V633M 1897G>A UCEC-US 7 98633252 98633252 single base substitution C T missense_variant V659M 1975G>A UCEC-US 7 98636096 98636096 single base substitution C T missense_variant A535T 1603G>A UCEC-US 7 98636096 98636096 single base substitution C T missense_variant A561T 1681G>A UCEC-US 7 98638148 98638148 single base substitution C T missense_variant R468Q 1403G>A UCEC-US 7 98638148 98638148 single base substitution C T missense_variant R494Q 1481G>A UCEC-US 7 98645350 98645350 single base substitution G A downstream_gene_variant UCEC-US 7 98645350 98645350 single base substitution G A missense_variant A370V 1109C>T UCEC-US 7 98645350 98645350 single base substitution G A missense_variant A396V 1187C>T UCEC-US 7 98645367 98645367 single base substitution C T downstream_gene_variant UCEC-US 7 98645367 98645367 single base substitution C T synonymous_variant S364S 1092G>A UCEC-US 7 98645367 98645367 single base substitution C T synonymous_variant S390S 1170G>A UCEC-US 7 98645408 98645408 single base substitution C A downstream_gene_variant UCEC-US 7 98645408 98645408 single base substitution C A missense_variant D351Y 1051G>T UCEC-US 7 98645408 98645408 single base substitution C A missense_variant D377Y 1129G>T UCEC-US 7 98645414 98645414 single base substitution C T downstream_gene_variant UCEC-US 7 98645414 98645414 single base substitution C T missense_variant E349K 1045G>A UCEC-US 7 98645414 98645414 single base substitution C T missense_variant E375K 1123G>A UCEC-US 7 98648572 98648572 single base substitution C T downstream_gene_variant UCEC-US 7 98648572 98648572 single base substitution C T intron_variant UCEC-US 7 98648572 98648572 single base substitution C T missense_variant E284K 850G>A UCEC-US 7 98648573 98648573 single base substitution G A downstream_gene_variant UCEC-US 7 98648573 98648573 single base substitution G A intron_variant UCEC-US 7 98648573 98648573 single base substitution G A synonymous_variant Y283Y 849C>T UCEC-US 7 98649053 98649053 single base substitution T C downstream_gene_variant UCEC-US 7 98649053 98649053 single base substitution T C missense_variant T245A 733A>G UCEC-US 7 98649896 98649896 single base substitution C T downstream_gene_variant UCEC-US 7 98649896 98649896 single base substitution C T exon_variant UCEC-US 7 98649896 98649896 single base substitution C T missense_variant R218Q 653G>A UCEC-US 7 98649897 98649897 single base substitution G A downstream_gene_variant UCEC-US 7 98649897 98649897 single base substitution G A exon_variant UCEC-US 7 98649897 98649897 single base substitution G A stop_gained R218* 652C>T UCEC-US 7 98655050 98655050 single base substitution C A exon_variant UCEC-US 7 98655050 98655050 single base substitution C A missense_variant D110Y 328G>T UCEC-US 7 98655066 98655066 single base substitution G A exon_variant UCEC-US 7 98655066 98655066 single base substitution G A synonymous_variant A104A 312C>T UCEC-US 7 98658236 98658236 single base substitution G A exon_variant UCEC-US 7 98658236 98658236 single base substitution G A synonymous_variant N63N 189C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HCT15 COSM2866959 c.738C>A p.V246V Substitution - coding silent 7:99051425-99051425 - TCGA-AP-A051-01 COSM1093750 c.1681G>A p.A561T Substitution - Missense 7:99038473-99038473 - TCGA-AM-5820-01 COSM3762914 c.498C>G p.S166S Substitution - coding silent 7:99052428-99052428 - HCC90T COSM1623366 c.2175-2A>T p.? Unknown 7:99030685-99030685 - TCGA-D3-A5GR-06 COSM3642853 c.1042C>T p.Q348* Substitution - Nonsense 7:99047872-99047872 - RMS66_ COSM2866935 c.1979G>A p.R660Q Substitution - Missense 7:99035625-99035625 - SC_9100 COSM5556409 c.687C>T p.H229H Substitution - coding silent 7:99052239-99052239 - TCGA-EE-A29S-06 COSM3642854 c.419G>A p.R140Q Substitution - Missense 7:99054850-99054850 - YUKLAB COSM1698987 c.1782G>A p.W594* Substitution - Nonsense 7:99037172-99037172 - 19 COSM5746764 c.2267T>C p.V756A Substitution - Missense 7:99030591-99030591 - PD5934a COSM5771801 c.2078A>G p.K693R Substitution - Missense 7:99035526-99035526 - HCT116 COSM2866964 c.548C>T p.T183I Substitution - Missense 7:99052378-99052378 - BD119T COSM5520880 c.2153A>G p.N718S Substitution - Missense 7:99033058-99033058 - HCC90 COSM1623366 c.2175-2A>T p.? Unknown 7:99030685-99030685 - ATL015 COSM5710770 c.1241G>A p.R414H Substitution - Missense 7:99045791-99045791 - TCGA-CM-4747-01 COSM1453243 c.389G>A p.R130H Substitution - Missense 7:99057219-99057219 - LIM1899 COSM4640820 c.2264C>A p.A755D Substitution - Missense 7:99030594-99030594 - HCT15 COSM2866934 c.2004G>A p.T668T Substitution - coding silent 7:99035600-99035600 - TCGA-B5-A11N-01 COSM1093761 c.328G>T p.D110Y Substitution - Missense 7:99057427-99057427 - sysucc-880T COSM5463674 c.1538C>A p.P513H Substitution - Missense 7:99040468-99040468 - TCGA-AX-A063-01 COSM1093763 c.189C>T p.N63N Substitution - coding silent 7:99060613-99060613 - PT38 COSM5922651 c.204-3C>T p.? Unknown 7:99057554-99057554 - sysucc-912T COSM3762914 c.498C>G p.S166S Substitution - coding silent 7:99052428-99052428 - CHOL27 COSM1744425 c.1380C>G p.Y460* Substitution - Nonsense 7:99042187-99042187 - ESCC-231T COSM3942422 c.1242C>G p.R414R Substitution - coding silent 7:99045790-99045790 - SJHGG034_D COSM4970593 c.1668C>T p.C556C Substitution - coding silent 7:99038486-99038486 - B66-Tumor COSM1755454 c.1155C>T p.L385L Substitution - coding silent 7:99047759-99047759 - C84 COSM4620244 c.1500G>T p.V500V Substitution - coding silent 7:99040506-99040506 - 112415 COSM95734 c.56-2A>G p.? Unknown 7:99061839-99061839 - 61 COSM5738035 c.712G>A p.E238K Substitution - Missense 7:99052214-99052214 - 587278 COSM1226912 c.55+2T>C p.? Unknown 7:99143724-99143724 - TCGA-G4-6302-01 COSM3698636 c.2103G>A p.A701A Substitution - coding silent 7:99033108-99033108 - Pat_53_A COSM5873501 c.443C>T p.S148L Substitution - Missense 7:99054826-99054826 - TCGA-AN-A046-01 COSM3833591 c.2160G>A p.P720P Substitution - coding silent 7:99033051-99033051 - TCGA-13-2071-01 COSM1330431 c.1279C>T p.R427W Substitution - Missense 7:99045753-99045753 - TCGA-66-2773-01 COSM748311 c.1090C>G p.L364V Substitution - Missense 7:99047824-99047824 - T578 COSM4728602 c.1122C>T p.Y374Y Substitution - coding silent 7:99047792-99047792 - OSCC-GB_00410111 COSM3718682 c.637C>T p.R213* Substitution - Nonsense 7:99052289-99052289 - 43T COSM106707 c.1267G>T p.D423Y Substitution - Missense 7:99045765-99045765 - 545 COSM174112 c.1263G>A p.P421P Substitution - coding silent 7:99045769-99045769 - TCGA-DI-A0WH-01 COSM1093764 c.177C>T p.D59D Substitution - coding silent 7:99060625-99060625 - TCGA-BR-8081-01 COSM3883790 c.701C>T p.P234L Substitution - Missense 7:99052225-99052225 - 1N48-VS-1T48 COSM4976377 c.1899C>T p.G633G Substitution - coding silent 7:99035705-99035705 - ESO-037 COSM1266313 c.2158C>A p.P720T Substitution - Missense 7:99033053-99033053 - TCGA-A7-A4SD-01 COSM1453241 c.1204G>A p.E402K Substitution - Missense 7:99047710-99047710 - TCGA-BR-4362-01 COSM3883789 c.720C>T p.Y240Y Substitution - coding silent 7:99052206-99052206 - T3091 COSM4364481 c.438C>T p.G146G Substitution - coding silent 7:99054831-99054831 - PT37 COSM5919447 c.1207G>A p.V403M Substitution - Missense 7:99047707-99047707 - T407 COSM4728603 c.592G>A p.V198M Substitution - Missense 7:99052334-99052334 - TCGA-AX-A0J1-01 COSM1093762 c.312C>T p.A104A Substitution - coding silent 7:99057443-99057443 - TCGA-D1-A167-01 COSM1093757 c.849C>T p.Y283Y Substitution - coding silent 7:99050950-99050950 - 101 COSM5014712 c.1973T>C p.I658T Substitution - Missense 7:99035631-99035631 - TCGA-C8-A274-01 COSM1488826 c.853T>C p.F285L Substitution - Missense 7:99050946-99050946 - CRC-06T COSM5457362 c.782C>T p.T261M Substitution - Missense 7:99051381-99051381 - 8068585 COSM4406545 c.884+10A>G p.? Unknown 7:99050905-99050905 - ESCC-057T COSM3942424 c.780C>T p.S260S Substitution - coding silent 7:99051383-99051383 - DLD1 COSM2866934 c.2004G>A p.T668T Substitution - coding silent 7:99035600-99035600 - CRC-03T COSM2866969 c.309T>C p.N103N Substitution - coding silent 7:99057446-99057446 - TCGA-DK-A2I2-01 COSM1313472 c.1380C>T p.Y460Y Substitution - coding silent 7:99042187-99042187 - TCGA-AP-A056-01 COSM1093756 c.850G>A p.E284K Substitution - Missense 7:99050949-99050949 - Pat_41_B COSM5873499 c.1325G>A p.G442D Substitution - Missense 7:99045707-99045707 - TCGA-CK-5914-01 COSM1093755 c.1123G>A p.E375K Substitution - Missense 7:99047791-99047791 - TCGA-28-5214-01 COSM3412553 c.1765C>T p.R589W Substitution - Missense 7:99038389-99038389 - YUKAT COSM5408368 c.1565C>T p.P522L Substitution - Missense 7:99040441-99040441 - ESCC_46 COSM5650018 c.2123_2125delCCA p.T708delT Deletion - In frame 7:99033086-99033088 - 4132_T COSM3951016 c.1155C>G p.L385L Substitution - coding silent 7:99047759-99047759 - TCGA-AX-A05Z-01 COSM1093751 c.1481G>A p.R494Q Substitution - Missense 7:99040525-99040525 - TCGA-CG-4465-01 COSM3883793 c.298C>T p.L100L Substitution - coding silent 7:99057457-99057457 - TCGA-12-0691 COSM2153977 c.2165C>G p.A722G Substitution - Missense 7:99033046-99033046 - TCGA-F4-6808-01 COSM1453239 c.2102C>T p.A701V Substitution - Missense 7:99033109-99033109 - B80-0 COSM1755453 c.1255A>G p.M419V Substitution - Missense 7:99045777-99045777 - TCGA-CC-A7IJ-01 COSM4924445 c.1189G>T p.G397C Substitution - Missense 7:99047725-99047725 - 57 COSM5014713 c.1382G>T p.G461V Substitution - Missense 7:99042185-99042185 - B104-0 COSM1757215 c.1812C>G p.F604L Substitution - Missense 7:99037142-99037142 - 255 COSM3732125 c.1064C>A p.P355Q Substitution - Missense 7:99047850-99047850 - TCGA-BR-8487-01 COSM3883796 c.166A>G p.N56D Substitution - Missense 7:99060636-99060636 - TCGA-EK-A2PG-01 COSM4819552 c.1485C>T p.I495I Substitution - coding silent 7:99040521-99040521 - TCGA-BR-8680-01 COSM3883795 c.225G>A p.S75S Substitution - coding silent 7:99057530-99057530 - TCGA-D7-A4YY-01 COSM3883787 c.1479G>A p.G493G Substitution - coding silent 7:99040527-99040527 - 880-01-8TD COSM3412553 c.1765C>T p.R589W Substitution - Missense 7:99038389-99038389 - TCGA-BS-A0UF-01 COSM1093755 c.1123G>A p.E375K Substitution - Missense 7:99047791-99047791 - TCGA-BR-6452-01 COSM3883794 c.258T>A p.I86I Substitution - coding silent 7:99057497-99057497 - HT115 COSM2866930 c.2188G>A p.D730N Substitution - Missense 7:99030670-99030670 - TCGA-AP-A0LM-01 COSM1093753 c.1170G>A p.S390S Substitution - coding silent 7:99047744-99047744 - B80-0-Tumor COSM1755453 c.1255A>G p.M419V Substitution - Missense 7:99045777-99045777 - HCT8 COSM2866934 c.2004G>A p.T668T Substitution - coding silent 7:99035600-99035600 - M025 COSM1739327 c.130G>A p.G44R Substitution - Missense 7:99060672-99060672 - T3021 COSM4728601 c.1198C>T p.R400C Substitution - Missense 7:99047716-99047716 - LUAD-S01356 COSM398372 c.1309G>C p.G437R Substitution - Missense 7:99045723-99045723 - SNU-C2B COSM4364481 c.438C>T p.G146G Substitution - coding silent 7:99054831-99054831 - B104-0-Tumor COSM1757215 c.1812C>G p.F604L Substitution - Missense 7:99037142-99037142 - 50 COSM5734516 c.1619T>C p.V540A Substitution - Missense 7:99040387-99040387 - TCGA-D1-A167-01 COSM1093749 c.1975G>A p.V659M Substitution - Missense 7:99035629-99035629 - TCGA-B5-A0K6-01 COSM1093747 c.2007C>T p.F669F Substitution - coding silent 7:99035597-99035597 - T3225 COSM3642854 c.419G>A p.R140Q Substitution - Missense 7:99054850-99054850 - TCGA-BR-4184-01 COSM3883791 c.335G>A p.G112E Substitution - Missense 7:99057420-99057420 - 41T COSM3718682 c.637C>T p.R213* Substitution - Nonsense 7:99052289-99052289 - 3N29-VS-3T29 COSM4980508 c.2101G>A p.A701T Substitution - Missense 7:99033110-99033110 - Gp2D COSM4628684 c.48T>C p.R16R Substitution - coding silent 7:99143733-99143733 - DLD1 COSM2866959 c.738C>A p.V246V Substitution - coding silent 7:99051425-99051425 - TCGA-AZ-6598-01 COSM1453242 c.638G>A p.R213Q Substitution - Missense 7:99052288-99052288 - TCGA-12-0691 COSM2153976 c.2166C>G p.A722A Substitution - coding silent 7:99033045-99033045 - 22T COSM108641 c.282C>T p.F94F Substitution - coding silent 7:99057473-99057473 - TCGA-CA-6717-01 COSM1453241 c.1204G>A p.E402K Substitution - Missense 7:99047710-99047710 - TCGA-AP-A0LM-01 COSM1093759 c.653G>A p.R218Q Substitution - Missense 7:99052273-99052273 - TCGA-BG-A0VX-01 COSM1093758 c.733A>G p.T245A Substitution - Missense 7:99051430-99051430 - TCGA-BR-A4QL-01 COSM3883792 c.309T>G p.N103K Substitution - Missense 7:99057446-99057446 - 19M COSM5579624 c.466T>C p.L156L Substitution - coding silent 7:99054803-99054803 - B74 COSM1757214 c.2067C>T p.L689L Substitution - coding silent 7:99035537-99035537 - TCGA-B0-5100-01 COSM485796 c.1449C>G p.P483P Substitution - coding silent 7:99042118-99042118 - HX20T COSM3663432 c.1902C>T p.G634G Substitution - coding silent 7:99035702-99035702 - OSCC-GB_00810111 COSM4891257 c.1495G>T p.A499S Substitution - Missense 7:99040511-99040511 - sysucc-274T COSM5476781 c.927G>A p.P309P Substitution - coding silent 7:99049667-99049667 - TCGA-BS-A0UA-01 COSM1093748 c.1994C>T p.A665V Substitution - Missense 7:99035610-99035610 - OSCC-GB_01370111 COSM5955776 c.867C>A p.G289G Substitution - coding silent 7:99050932-99050932 - ESO-0292 COSM1241764 c.1784G>T p.R595M Substitution - Missense 7:99037170-99037170 - CSCC-41-T COSM2866937 c.1923C>T p.N641N Substitution - coding silent 7:99035681-99035681 - 227_T COSM3951015 c.1629-2A>G p.? Unknown 7:99038527-99038527 - TCGA-E9-A1RF-01 COSM1488825 c.1512C>A p.H504Q Substitution - Missense 7:99040494-99040494 - TCGA-G2-A2EO-01 COSM1313473 c.734C>G p.T245R Substitution - Missense 7:99051429-99051429 - TCGA-AX-A063-01 COSM1093760 c.652C>T p.R218* Substitution - Nonsense 7:99052274-99052274 - YUCHIME COSM1698986 c.2077A>G p.K693E Substitution - Missense 7:99035527-99035527 - TCGA-B2-4099-01 COSM485797 c.370T>C p.S124P Substitution - Missense 7:99057238-99057238 - 1920_T COSM3951017 c.97C>T p.L33F Substitution - Missense 7:99060705-99060705 - OSCC-GB_01060111 COSM4882632 c.655G>T p.G219C Substitution - Missense 7:99052271-99052271 - Pat_41_B COSM5873500 c.1135G>A p.V379I Substitution - Missense 7:99047779-99047779 - Pat_41_B COSM5873502 c.392G>A p.G131D Substitution - Missense 7:99057216-99057216 - TCGA-24-0970-01 COSM79058 c.1756G>T p.E586* Substitution - Nonsense 7:99038398-99038398 - TCGA-AF-3913-01 COSM287810 c.1837G>A p.E613K Substitution - Missense 7:99037117-99037117 - TCGA-B5-A0JY-01 COSM1093754 c.1129G>T p.D377Y Substitution - Missense 7:99047785-99047785 - TCGA-EE-A2A2-06 COSM3642852 c.1296C>T p.F432F Substitution - coding silent 7:99045736-99045736 - T3021 COSM4728600 c.1240C>T p.R414C Substitution - Missense 7:99045792-99045792 - RK208_C01 COSM1635519 c.1601A>T p.E534V Substitution - Missense 7:99040405-99040405 - 410 COSM4430889 c.60A>T p.L20F Substitution - Missense 7:99061833-99061833 - TCGA-IR-A3LH-01 COSM4832417 c.1888-3C>T p.? Unknown 7:99035719-99035719 - TCGA-GC-A3YS-01 COSM3778727 c.1157G>T p.R386I Substitution - Missense 7:99047757-99047757 - TCGA-AP-A051-01 COSM1093752 c.1187C>T p.A396V Substitution - Missense 7:99047727-99047727 - C0007T COSM4153125 c.970T>G p.F324V Substitution - Missense 7:99049624-99049624 - TCGA-BR-A4QL-01 COSM3883786 c.1686C>T p.F562F Substitution - coding silent 7:99038468-99038468 - TCGA-BT-A3PH-01 COSM1313471 c.1800C>T p.I600I Substitution - coding silent 7:99037154-99037154 - TCGA-GC-A3YS-01 COSM3778728 c.1096G>T p.D366Y Substitution - Missense 7:99047818-99047818 - TCGA-FP-A4BE-01 COSM3883788 c.989G>A p.R330Q Substitution - Missense 7:99049605-99049605 - B66 COSM1755454 c.1155C>T p.L385L Substitution - coding silent 7:99047759-99047759 - B74-Tumor COSM1757214 c.2067C>T p.L689L Substitution - coding silent 7:99035537-99035537 - ESCC-243T COSM3942423 c.1119A>G p.R373R Substitution - coding silent 7:99047795-99047795 - TCGA-66-2795-01 COSM748312 c.1093G>T p.E365* Substitution - Nonsense 7:99047821-99047821 - BICR_22 COSM2866939 c.1790T>C p.M597T Substitution - Missense 7:99037164-99037164 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.189329 7q22.1 605568

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.I78S c.233T>G 7 98655145 HNSC A C Missense p.L640V c.1918T>G 7 98633309 LUAD A G Missense p.F285L c.853T>C 7 98648569 BRCA A G Missense p.F514L c.1540T>C 7 98638089 HNSC A G Synonymous p.P622P c.1866T>C 7 98634711 CM C A Missense p.M429I c.1287G>T 7 98643368 LUAD C A Missense p.S79I c.236G>T 7 98655142 MM C A Nonsense p.E365* c.1093G>T 7 98645444 LUSC C A Nonsense p.E586* c.1756G>T 7 98636021 OV C A Synonymous p.V134V c.402G>T 7 98654829 CM C T 3-UTRSNV . c.2271+117G>A 7 98628093 CM C T Missense p.D642N c.1924G>A 7 98633303 STAD C T Missense p.E613K c.1837G>A 7 98634740 COREAD C T Missense p.R140Q c.419G>A 7 98652473 CM C T Synonymous p.Q208Q c.624G>A 7 98649925 CM G A 3-UTRSNV . c.2271+164C>T 7 98628046 CM G A Missense p.A665V c.1994C>T 7 98633233 UCEC G A Missense p.P265S c.793C>T 7 98648993 CM G A Missense p.R589W c.1765C>T 7 98636012 GBM G A Nonsense p.R218* c.652C>T 7 98649897 UCEC G A Synonymous p.C399C c.1197C>T 7 98645340 CM G A Synonymous p.F432F c.1296C>T 7 98643359 CM G A Synonymous p.F669F c.2007C>T 7 98633220 UCEC G A Synonymous p.L100L c.298C>T 7 98655080 STAD G A Synonymous p.N63N c.189C>T 7 98658236 UCEC G A Synonymous p.V384V c.1152C>T 7 98645385 HNSC G A Synonymous p.Y460Y c.1380C>T 7 98639810 BLCA G C Missense p.L364V c.1090C>G 7 98645447 LUSC G C Missense p.T245R c.734C>G 7 98649052 BLCA G C Synonymous p.P483P c.1449C>G 7 98639741 RCCC G T IntronicSNV . c.1032-153C>A 7 98645658 CM G T Missense p.H504Q c.1512C>A 7 98638117 BRCA G T Missense p.P720T c.2158C>A 7 98630676 ESCA G T Synonymous p.R330R c.988C>A 7 98647229 CM GTT - InFrameDeletion p.N560delN c.1678_1680delAAC 7 98636097 GBM T C Missense p.T245A c.733A>G 7 98649053 UCEC