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 17349573 17349573 + Missense_Mutation SNP C C A TCGA-DK-A6AV-01A-12D-A30E-08 TCGA-DK-A6AV-10A-01D-A30H-08 g.chr7:17349573C>A c.79C>A c.(79-81)Cca>Aca p.P27T BLCA 7 17349574 17349574 + Missense_Mutation SNP C C A TCGA-DK-A6AV-01A-12D-A30E-08 TCGA-DK-A6AV-10A-01D-A30H-08 g.chr7:17349574C>A c.80C>A c.(79-81)cCa>cAa p.P27Q BLCA 7 17367467 17367467 + Nonsense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 g.chr7:17367467C>T c.445C>T c.(445-447)Cag>Tag p.Q149* BLCA 7 17369593 17369593 + Silent SNP G G A TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 g.chr7:17369593G>A c.468G>A c.(466-468)caG>caA p.Q156Q BLCA 7 17369630 17369630 + Missense_Mutation SNP G G C TCGA-XF-A9SL-01A-11D-A391-08 TCGA-XF-A9SL-10A-01D-A394-08 g.chr7:17369630G>C c.505G>C c.(505-507)Gaa>Caa p.E169Q BLCA 7 17370446 17370446 + Missense_Mutation SNP C C T TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr7:17370446C>T c.641C>T c.(640-642)cCt>cTt p.P214L BLCA 7 17373573 17373573 + Missense_Mutation SNP G G C TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr7:17373573G>C c.743G>C c.(742-744)gGa>gCa p.G248A BLCA 7 17373641 17373641 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 g.chr7:17373641C>G c.811C>G c.(811-813)Cca>Gca p.P271A BLCA 7 17373647 17373647 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr7:17373647C>A c.817C>A c.(817-819)Cag>Aag p.Q273K BLCA 7 17375399 17375399 + Missense_Mutation SNP G G C TCGA-4Z-AA80-01A-11D-A391-08 TCGA-4Z-AA80-10A-01D-A394-08 g.chr7:17375399G>C c.1149G>C c.(1147-1149)caG>caC p.Q383H BLCA 7 17375399 17375399 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 g.chr7:17375399G>C c.1149G>C c.(1147-1149)caG>caC p.Q383H BLCA 7 17375399 17375399 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 g.chr7:17375399G>C c.1149G>C c.(1147-1149)caG>caC p.Q383H BLCA 7 17375399 17375399 + Missense_Mutation SNP G G C TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr7:17375399G>C c.1149G>C c.(1147-1149)caG>caC p.Q383H BLCA 7 17375399 17375399 + Missense_Mutation SNP G G C TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr7:17375399G>C c.1149G>C c.(1147-1149)caG>caC p.Q383H BLCA 7 17375399 17375399 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 g.chr7:17375399G>C c.1149G>C c.(1147-1149)caG>caC p.Q383H BLCA 7 17375399 17375399 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 g.chr7:17375399G>C c.1149G>C c.(1147-1149)caG>caC p.Q383H BLCA 7 17378626 17378626 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 g.chr7:17378626G>A c.1177G>A c.(1177-1179)Gag>Aag p.E393K BLCA 7 17378759 17378759 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 g.chr7:17378759G>C c.1310G>C c.(1309-1311)gGa>gCa p.G437A BLCA 7 17378759 17378759 + Missense_Mutation SNP G G T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 g.chr7:17378759G>T c.1310G>T c.(1309-1311)gGa>gTa p.G437V BLCA 7 17378911 17378911 + Nonsense_Mutation SNP G G T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 g.chr7:17378911G>T c.1462G>T c.(1462-1464)Gaa>Taa p.E488* BLCA 7 17378976 17378976 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 g.chr7:17378976G>A c.1527G>A c.(1525-1527)ctG>ctA p.L509L BLCA 7 17378992 17378992 + Missense_Mutation SNP G G T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 g.chr7:17378992G>T c.1543G>T c.(1543-1545)Gac>Tac p.D515Y BLCA 7 17379146 17379146 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 g.chr7:17379146T>C c.1697T>C c.(1696-1698)tTt>tCt p.F566S BLCA 7 17379440 17379440 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 g.chr7:17379440G>T c.1991G>T c.(1990-1992)tGt>tTt p.C664F BLCA 7 17379517 17379517 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 g.chr7:17379517G>A c.2068G>A c.(2068-2070)Gaa>Aaa p.E690K BLCA 7 17382605 17382605 + Nonsense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 g.chr7:17382605C>T c.2464C>T c.(2464-2466)Cag>Tag p.Q822* BLCA 7 17382607 17382607 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr7:17382607G>C c.2466G>C c.(2464-2466)caG>caC p.Q822H BLCA 7 17382623 17382623 + Nonsense_Mutation SNP C C T TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 g.chr7:17382623C>T c.2482C>T c.(2482-2484)Cag>Tag p.Q828* BRCA 7 17349613 17349613 + Missense_Mutation SNP G G C TCGA-A8-A06X-01A-21W-A019-09 TCGA-A8-A06X-10A-01W-A021-09 g.chr7:17349613G>C c.119G>C c.(118-120)aGa>aCa p.R40T BRCA 7 17378965 17378965 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chr7:17378965G>A c.1516G>A c.(1516-1518)Gat>Aat p.D506N CESC 7 17379822 17379822 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr7:17379822A>G c.2373A>G c.(2371-2373)gtA>gtG p.V791V COAD 7 17349622 17349622 + Missense_Mutation SNP T T C TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr7:17349622T>C c.128T>C c.(127-129)cTt>cCt p.L43P COAD 7 17349637 17349637 + Missense_Mutation SNP A A G TCGA-AZ-6606-01A-11D-1835-10 TCGA-AZ-6606-11A-01D-1835-10 g.chr7:17349637A>G c.143A>G c.(142-144)gAc>gGc p.D48G COAD 7 17349713 17349713 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:17349713C>T c.219C>T c.(217-219)agC>agT p.S73S COAD 7 17349714 17349714 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr7:17349714G>A c.220G>A c.(220-222)Gtc>Atc p.V74I COAD 7 17370462 17370462 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:17370462C>T c.657C>T c.(655-657)tgC>tgT p.C219C COAD 7 17374516 17374516 + Missense_Mutation SNP G G A TCGA-AA-3866-01A-01W-0995-10 TCGA-AA-3866-10A-01W-0995-10 g.chr7:17374516G>A c.914G>A c.(913-915)aGa>aAa p.R305K COAD 7 17378625 17378625 + Silent SNP A A C TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr7:17378625A>C c.1176A>C c.(1174-1176)acA>acC p.T392T COAD 7 17378828 17378828 + Missense_Mutation SNP T T G TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr7:17378828T>G c.1379T>G c.(1378-1380)aTg>aGg p.M460R COAD 7 17378922 17378922 + Missense_Mutation SNP T T A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr7:17378922T>A c.1473T>A c.(1471-1473)aaT>aaA p.N491K COAD 7 17378954 17378954 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:17378954C>T c.1505C>T c.(1504-1506)cCg>cTg p.P502L COAD 7 17382602 17382602 + Missense_Mutation SNP A A G TCGA-D5-6538-01A-11D-1719-10 TCGA-D5-6538-10A-01D-1719-10 g.chr7:17382602A>G c.2461A>G c.(2461-2463)Act>Gct p.T821A COAD 7 17382602 17382602 + Missense_Mutation SNP A A G TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr7:17382602A>G c.2461A>G c.(2461-2463)Act>Gct p.T821A COAD 7 17382604 17382604 + Silent SNP T T C TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chr7:17382604T>C c.2463T>C c.(2461-2463)acT>acC p.T821T COAD 7 17382604 17382604 + Silent SNP T T C TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr7:17382604T>C c.2463T>C c.(2461-2463)acT>acC p.T821T COAD 7 17382604 17382604 + Silent SNP T T C TCGA-CM-6172-01A-11D-1650-10 TCGA-CM-6172-10A-01D-1650-10 g.chr7:17382604T>C c.2463T>C c.(2461-2463)acT>acC p.T821T COAD 7 17382604 17382604 + Silent SNP T T C TCGA-CM-6680-01A-11D-1835-10 TCGA-CM-6680-10A-01D-1835-10 g.chr7:17382604T>C c.2463T>C c.(2461-2463)acT>acC p.T821T COADREAD 7 17349622 17349622 + Missense_Mutation SNP T T C TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr7:17349622T>C c.128T>C c.(127-129)cTt>cCt p.L43P COADREAD 7 17349637 17349637 + Missense_Mutation SNP A A G TCGA-AZ-6606-01A-11D-1835-10 TCGA-AZ-6606-11A-01D-1835-10 g.chr7:17349637A>G c.143A>G c.(142-144)gAc>gGc p.D48G COADREAD 7 17349713 17349713 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:17349713C>T c.219C>T c.(217-219)agC>agT p.S73S COADREAD 7 17349714 17349714 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr7:17349714G>A c.220G>A c.(220-222)Gtc>Atc p.V74I COADREAD 7 17369639 17369639 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:17369639C>T c.514C>T c.(514-516)Cgt>Tgt p.R172C COADREAD 7 17370462 17370462 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:17370462C>T c.657C>T c.(655-657)tgC>tgT p.C219C COADREAD 7 17374516 17374516 + Missense_Mutation SNP G G A TCGA-AA-3866-01A-01W-0995-10 TCGA-AA-3866-10A-01W-0995-10 g.chr7:17374516G>A c.914G>A c.(913-915)aGa>aAa p.R305K COADREAD 7 17378625 17378625 + Silent SNP A A C TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr7:17378625A>C c.1176A>C c.(1174-1176)acA>acC p.T392T COADREAD 7 17378642 17378642 + Missense_Mutation SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr7:17378642G>A c.1193G>A c.(1192-1194)cGa>cAa p.R398Q COADREAD 7 17378828 17378828 + Missense_Mutation SNP T T G TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr7:17378828T>G c.1379T>G c.(1378-1380)aTg>aGg p.M460R COADREAD 7 17378922 17378922 + Missense_Mutation SNP T T A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr7:17378922T>A c.1473T>A c.(1471-1473)aaT>aaA p.N491K COADREAD 7 17378954 17378954 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:17378954C>T c.1505C>T c.(1504-1506)cCg>cTg p.P502L COADREAD 7 17379658 17379658 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:17379658G>T c.2209G>T c.(2209-2211)Gat>Tat p.D737Y COADREAD 7 17382602 17382602 + Missense_Mutation SNP A A G TCGA-D5-6538-01A-11D-1719-10 TCGA-D5-6538-10A-01D-1719-10 g.chr7:17382602A>G c.2461A>G c.(2461-2463)Act>Gct p.T821A COADREAD 7 17382602 17382602 + Missense_Mutation SNP A A G TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr7:17382602A>G c.2461A>G c.(2461-2463)Act>Gct p.T821A COADREAD 7 17382604 17382604 + Silent SNP T T C TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chr7:17382604T>C c.2463T>C c.(2461-2463)acT>acC p.T821T COADREAD 7 17382604 17382604 + Silent SNP T T C TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr7:17382604T>C c.2463T>C c.(2461-2463)acT>acC p.T821T COADREAD 7 17382604 17382604 + Silent SNP T T C TCGA-CM-6172-01A-11D-1650-10 TCGA-CM-6172-10A-01D-1650-10 g.chr7:17382604T>C c.2463T>C c.(2461-2463)acT>acC p.T821T COADREAD 7 17382604 17382604 + Silent SNP T T C TCGA-CM-6680-01A-11D-1835-10 TCGA-CM-6680-10A-01D-1835-10 g.chr7:17382604T>C c.2463T>C c.(2461-2463)acT>acC p.T821T DLBC 7 17379157 17379157 + Missense_Mutation SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr7:17379157G>A c.1708G>A c.(1708-1710)Gtt>Att p.V570I GBM 7 17367444 17367444 + Missense_Mutation SNP C C A TCGA-06-0876-01A-01W-0424-08 TCGA-06-0876-10A-01W-0424-08 g.chr7:17367444C>A c.422C>A c.(421-423)aCt>aAt p.T141N GBM 7 17375305 17375305 + Missense_Mutation SNP G G A TCGA-41-2572-01A-01D-1353-08 TCGA-41-2572-10A-01D-1353-08 g.chr7:17375305G>A c.1055G>A c.(1054-1056)cGg>cAg p.R352Q GBM 7 17378648 17378648 + Missense_Mutation SNP C C T TCGA-28-5219-01A-01D-1486-08 TCGA-28-5219-10A-01D-1486-08 g.chr7:17378648C>T c.1199C>T c.(1198-1200)aCg>aTg p.T400M GBM 7 17379818 17379818 + Missense_Mutation SNP C C T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 g.chr7:17379818C>T c.2369C>T c.(2368-2370)cCa>cTa p.P790L GBMLGG 7 17367444 17367444 + Missense_Mutation SNP C C A TCGA-06-0876-01A-01W-0424-08 TCGA-06-0876-10A-01W-0424-08 g.chr7:17367444C>A c.422C>A c.(421-423)aCt>aAt p.T141N GBMLGG 7 17375305 17375305 + Missense_Mutation SNP G G A TCGA-41-2572-01A-01D-1353-08 TCGA-41-2572-10A-01D-1353-08 g.chr7:17375305G>A c.1055G>A c.(1054-1056)cGg>cAg p.R352Q GBMLGG 7 17378648 17378648 + Missense_Mutation SNP C C T TCGA-28-5219-01A-01D-1486-08 TCGA-28-5219-10A-01D-1486-08 g.chr7:17378648C>T c.1199C>T c.(1198-1200)aCg>aTg p.T400M GBMLGG 7 17379003 17379003 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:17379003G>T c.1554G>T c.(1552-1554)caG>caT p.Q518H GBMLGG 7 17379139 17379139 + Missense_Mutation SNP A A T TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 g.chr7:17379139A>T c.1690A>T c.(1690-1692)Aat>Tat p.N564Y GBMLGG 7 17379426 17379426 + Silent SNP C C T TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 g.chr7:17379426C>T c.1977C>T c.(1975-1977)ttC>ttT p.F659F GBMLGG 7 17379702 17379702 + Silent SNP A A T TCGA-S9-A6U6-01A-12D-A33T-08 TCGA-S9-A6U6-10A-01D-A33W-08 g.chr7:17379702A>T c.2253A>T c.(2251-2253)ggA>ggT p.G751G GBMLGG 7 17379818 17379818 + Missense_Mutation SNP C C T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 g.chr7:17379818C>T c.2369C>T c.(2368-2370)cCa>cTa p.P790L HNSC 7 17349613 17349613 + Missense_Mutation SNP G G C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 g.chr7:17349613G>C c.119G>C c.(118-120)aGa>aCa p.R40T HNSC 7 17379208 17379208 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 g.chr7:17379208G>C c.1759G>C c.(1759-1761)Gat>Cat p.D587H HNSC 7 17379231 17379231 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 g.chr7:17379231C>G c.1782C>G c.(1780-1782)ttC>ttG p.F594L HNSC 7 17382646 17382646 + Missense_Mutation SNP A A T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 g.chr7:17382646A>T c.2505A>T c.(2503-2505)gaA>gaT p.E835D KICH 7 17369578 17369578 + Silent SNP T T A TCGA-KN-8432-01A-11D-2310-10 TCGA-KN-8432-11A-01D-2311-10 g.chr7:17369578T>A c.453T>A c.(451-453)tcT>tcA p.S151S KIPAN 7 17362177 17362177 + Missense_Mutation SNP A A T TCGA-IZ-8196-01A-11D-2396-08 TCGA-IZ-8196-10A-01D-2396-08 g.chr7:17362177A>T c.306A>T c.(304-306)agA>agT p.R102S KIPAN 7 17369578 17369578 + Silent SNP T T A TCGA-KN-8432-01A-11D-2310-10 TCGA-KN-8432-11A-01D-2311-10 g.chr7:17369578T>A c.453T>A c.(451-453)tcT>tcA p.S151S KIPAN 7 17375399 17375399 + Missense_Mutation SNP G G C TCGA-P4-A5E7-01A-31D-A28G-10 TCGA-P4-A5E7-11A-11D-A28G-10 g.chr7:17375399G>C c.1149G>C c.(1147-1149)caG>caC p.Q383H KIPAN 7 17378783 17378783 + Missense_Mutation SNP C C T TCGA-CZ-4854-01A-01D-1373-10 TCGA-CZ-4854-11A-01D-1373-10 g.chr7:17378783C>T c.1334C>T c.(1333-1335)aCt>aTt p.T445I KIPAN 7 17379447 17379448 + Frame_Shift_Ins INS - - C TCGA-CZ-5460-01A-01D-1501-10 TCGA-CZ-5460-11A-01D-1501-10 g.chr7:17379447_17379448insC c.1998_1999insC c.(1999-2001)caafs p.Q667fs KIPAN 7 17382681 17382681 + Missense_Mutation SNP T T A TCGA-BP-4170-01A-02D-1366-10 TCGA-BP-4170-11A-01D-1366-10 g.chr7:17382681T>A c.2540T>A c.(2539-2541)tTc>tAc p.F847Y KIRC 7 17378783 17378783 + Missense_Mutation SNP C C T TCGA-CZ-4854-01A-01D-1373-10 TCGA-CZ-4854-11A-01D-1373-10 g.chr7:17378783C>T c.1334C>T c.(1333-1335)aCt>aTt p.T445I KIRC 7 17379447 17379448 + Frame_Shift_Ins INS - - C TCGA-CZ-5460-01A-01D-1501-10 TCGA-CZ-5460-11A-01D-1501-10 g.chr7:17379447_17379448insC c.1998_1999insC c.(1999-2001)caafs p.Q667fs KIRC 7 17382681 17382681 + Missense_Mutation SNP T T A TCGA-BP-4170-01A-02D-1366-10 TCGA-BP-4170-11A-01D-1366-10 g.chr7:17382681T>A c.2540T>A c.(2539-2541)tTc>tAc p.F847Y KIRP 7 17362177 17362177 + Missense_Mutation SNP A A T TCGA-IZ-8196-01A-11D-2396-08 TCGA-IZ-8196-10A-01D-2396-08 g.chr7:17362177A>T c.306A>T c.(304-306)agA>agT p.R102S KIRP 7 17375399 17375399 + Missense_Mutation SNP G G C TCGA-P4-A5E7-01A-31D-A28G-10 TCGA-P4-A5E7-11A-11D-A28G-10 g.chr7:17375399G>C c.1149G>C c.(1147-1149)caG>caC p.Q383H LGG 7 17379003 17379003 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:17379003G>T c.1554G>T c.(1552-1554)caG>caT p.Q518H LGG 7 17379139 17379139 + Missense_Mutation SNP A A T TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 g.chr7:17379139A>T c.1690A>T c.(1690-1692)Aat>Tat p.N564Y LGG 7 17379426 17379426 + Silent SNP C C T TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 g.chr7:17379426C>T c.1977C>T c.(1975-1977)ttC>ttT p.F659F LGG 7 17379702 17379702 + Silent SNP A A T TCGA-S9-A6U6-01A-12D-A33T-08 TCGA-S9-A6U6-10A-01D-A33W-08 g.chr7:17379702A>T c.2253A>T c.(2251-2253)ggA>ggT p.G751G LIHC 7 17362177 17362177 + Silent SNP A A G TCGA-XR-A8TE-01A-11D-A35Z-10 TCGA-XR-A8TE-10A-01D-A35Z-10 g.chr7:17362177A>G c.306A>G c.(304-306)agA>agG p.R102R LIHC 7 17375399 17375399 + Missense_Mutation SNP G G T TCGA-RC-A6M4-01A-11D-A32G-10 TCGA-RC-A6M4-10A-01D-A32G-10 g.chr7:17375399G>T c.1149G>T c.(1147-1149)caG>caT p.Q383H LIHC 7 17379497 17379497 + Missense_Mutation SNP A A G TCGA-MI-A75I-01A-11D-A32G-10 TCGA-MI-A75I-10A-01D-A32G-10 g.chr7:17379497A>G c.2048A>G c.(2047-2049)cAa>cGa p.Q683R LIHC 7 17382597 17382597 + Missense_Mutation SNP A A C TCGA-RC-A7SK-01A-11D-A34Z-10 TCGA-RC-A7SK-10A-01D-A34Z-10 g.chr7:17382597A>C c.2456A>C c.(2455-2457)aAt>aCt p.N819T LIHC 7 17382606 17382606 + Missense_Mutation SNP A A C TCGA-RC-A7SK-01A-11D-A34Z-10 TCGA-RC-A7SK-10A-01D-A34Z-10 g.chr7:17382606A>C c.2465A>C c.(2464-2466)cAg>cCg p.Q822P LIHC 7 17382611 17382611 + Missense_Mutation SNP A A G TCGA-RC-A7SK-01A-11D-A34Z-10 TCGA-RC-A7SK-10A-01D-A34Z-10 g.chr7:17382611A>G c.2470A>G c.(2470-2472)Acc>Gcc p.T824A LUAD 7 17349607 17349607 + Missense_Mutation SNP G G C TCGA-55-8301-01A-11D-2284-08 TCGA-55-8301-10A-01D-2284-08 g.chr7:17349607G>C c.113G>C c.(112-114)cGg>cCg p.R38P LUAD 7 17349710 17349710 + Silent SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 g.chr7:17349710C>T c.216C>T c.(214-216)ctC>ctT p.L72L LUAD 7 17367416 17367416 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 g.chr7:17367416G>A c.394G>A c.(394-396)Gat>Aat p.D132N LUAD 7 17369593 17369593 + Missense_Mutation SNP G G C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 g.chr7:17369593G>C c.468G>C c.(466-468)caG>caC p.Q156H LUAD 7 17374516 17374516 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 g.chr7:17374516G>A c.914G>A c.(913-915)aGa>aAa p.R305K LUAD 7 17374587 17374587 + Missense_Mutation SNP G G A TCGA-91-6836-01A-21D-1855-08 TCGA-91-6836-11A-01D-1855-08 g.chr7:17374587G>A c.985G>A c.(985-987)Gat>Aat p.D329N LUAD 7 17375399 17375399 + Missense_Mutation SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 g.chr7:17375399G>C c.1149G>C c.(1147-1149)caG>caC p.Q383H LUAD 7 17375401 17375401 + Missense_Mutation SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 g.chr7:17375401G>A c.1151G>A c.(1150-1152)aGa>aAa p.R384K LUAD 7 17378833 17378833 + Nonsense_Mutation SNP C C T TCGA-75-5125-01A-01D-1753-08 TCGA-75-5125-10A-01D-1753-08 g.chr7:17378833C>T c.1384C>T c.(1384-1386)Caa>Taa p.Q462* LUAD 7 17378929 17378929 + Missense_Mutation SNP A A G TCGA-86-8673-01A-11D-2393-08 TCGA-86-8673-10A-01D-2393-08 g.chr7:17378929A>G c.1480A>G c.(1480-1482)Aga>Gga p.R494G LUAD 7 17378938 17378938 + Missense_Mutation SNP C C G TCGA-86-8673-01A-11D-2393-08 TCGA-86-8673-10A-01D-2393-08 g.chr7:17378938C>G c.1489C>G c.(1489-1491)Caa>Gaa p.Q497E LUAD 7 17379180 17379180 + Missense_Mutation SNP A A T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr7:17379180A>T c.1731A>T c.(1729-1731)ttA>ttT p.L577F LUAD 7 17379475 17379475 + Missense_Mutation SNP A A G TCGA-99-8028-01A-11D-2238-08 TCGA-99-8028-10A-01D-2238-08 g.chr7:17379475A>G c.2026A>G c.(2026-2028)Aca>Gca p.T676A LUAD 7 17379714 17379714 + Missense_Mutation SNP G G C TCGA-75-5125-01A-01D-1753-08 TCGA-75-5125-10A-01D-1753-08 g.chr7:17379714G>C c.2265G>C c.(2263-2265)caG>caC p.Q755H LUAD 7 17379756 17379756 + Silent SNP G G T TCGA-99-8025-01A-11D-2238-08 TCGA-99-8025-10A-01D-2238-08 g.chr7:17379756G>T c.2307G>T c.(2305-2307)gtG>gtT p.V769V LUAD 7 17382562 17382562 + Silent SNP A A G TCGA-17-Z057-01A-01W-0747-08 TCGA-17-Z057-11A-01W-0747-08 g.chr7:17382562A>G c.2421A>G c.(2419-2421)ttA>ttG p.L807L LUSC 7 17378616 17378616 + Missense_Mutation SNP G G T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 g.chr7:17378616G>T c.1167G>T c.(1165-1167)gaG>gaT p.E389D OV 7 17349604 17349604 + Missense_Mutation SNP A A C TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 g.chr7:17349604A>C c.110A>C c.(109-111)aAg>aCg p.K37T OV 7 17378784 17378784 + Silent SNP T T G TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 g.chr7:17378784T>G c.1335T>G c.(1333-1335)acT>acG p.T445T PCPG 7 17382667 17382667 + Silent SNP G G A TCGA-RT-A6YC-01A-12D-A35D-08 TCGA-RT-A6YC-10B-01D-A35B-08 g.chr7:17382667G>A c.2526G>A c.(2524-2526)ttG>ttA p.L842L PRAD 7 17379808 17379808 + Missense_Mutation SNP C C G TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 g.chr7:17379808C>G c.2359C>G c.(2359-2361)Cag>Gag p.Q787E READ 7 17369639 17369639 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:17369639C>T c.514C>T c.(514-516)Cgt>Tgt p.R172C READ 7 17378642 17378642 + Missense_Mutation SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr7:17378642G>A c.1193G>A c.(1192-1194)cGa>cAa p.R398Q READ 7 17379658 17379658 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:17379658G>T c.2209G>T c.(2209-2211)Gat>Tat p.D737Y SARC 7 17369626 17369626 + Silent SNP A A C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 g.chr7:17369626A>C c.501A>C c.(499-501)cgA>cgC p.R167R SKCM 7 17349574 17349574 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 g.chr7:17349574C>T c.80C>T c.(79-81)cCa>cTa p.P27L SKCM 7 17349706 17349706 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 g.chr7:17349706G>A c.212G>A c.(211-213)aGg>aAg p.R71K SKCM 7 17349707 17349707 + Missense_Mutation SNP G G T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 g.chr7:17349707G>T c.213G>T c.(211-213)agG>agT p.R71S SKCM 7 17370472 17370472 + Missense_Mutation SNP C C G TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 g.chr7:17370472C>G c.667C>G c.(667-669)Cgt>Ggt p.R223G SKCM 7 17373557 17373557 + Silent SNP T T C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 g.chr7:17373557T>C c.727T>C c.(727-729)Tta>Cta p.L243L SKCM 7 17378725 17378725 + Missense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr7:17378725C>T c.1276C>T c.(1276-1278)Ccc>Tcc p.P426S SKCM 7 17379639 17379639 + Silent SNP C C T TCGA-FR-A69P-06A-21D-A30X-08 TCGA-FR-A69P-10A-01D-A30X-08 g.chr7:17379639C>T c.2190C>T c.(2188-2190)ccC>ccT p.P730P SKCM 7 17379730 17379730 + Missense_Mutation SNP C C T TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr7:17379730C>T c.2281C>T c.(2281-2283)Cct>Tct p.P761S SKCM 7 17379731 17379731 + Missense_Mutation SNP C C T TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr7:17379731C>T c.2282C>T c.(2281-2283)cCt>cTt p.P761L SKCM 7 17379741 17379741 + Missense_Mutation SNP T T G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr7:17379741T>G c.2292T>G c.(2290-2292)tgT>tgG p.C764W SKCM 7 17382555 17382555 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr7:17382555G>A c.2414G>A c.(2413-2415)gGa>gAa p.G805E

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 17373691 17373691 single base substitution T C downstream_gene_variant BLCA-CN 7 17373691 17373691 single base substitution T C exon_variant BLCA-CN 7 17373691 17373691 single base substitution T C synonymous_variant F287F 861T>C BLCA-CN 7 17373691 17373691 single base substitution T C upstream_gene_variant BLCA-CN 7 17378844 17378844 single base substitution G A downstream_gene_variant BLCA-CN 7 17378844 17378844 single base substitution G A exon_variant BLCA-CN 7 17378844 17378844 single base substitution G A synonymous_variant E465E 1395G>A BLCA-CN 7 17379239 17379239 single base substitution C G downstream_gene_variant BLCA-CN 7 17379239 17379239 single base substitution C G exon_variant BLCA-CN 7 17379239 17379239 single base substitution C G stop_gained S597* 1790C>G BLCA-US 7 17373647 17373647 single base substitution C A downstream_gene_variant BLCA-US 7 17373647 17373647 single base substitution C A exon_variant BLCA-US 7 17373647 17373647 single base substitution C A missense_variant Q273K 817C>A BLCA-US 7 17373647 17373647 single base substitution C A upstream_gene_variant BLCA-US 7 17378759 17378759 single base substitution G T downstream_gene_variant BLCA-US 7 17378759 17378759 single base substitution G T exon_variant BLCA-US 7 17378759 17378759 single base substitution G T missense_variant G437V 1310G>T BLCA-US 7 17378911 17378911 single base substitution G T downstream_gene_variant BLCA-US 7 17378911 17378911 single base substitution G T exon_variant BLCA-US 7 17378911 17378911 single base substitution G T stop_gained E488* 1462G>T BLCA-US 7 17379440 17379440 single base substitution G T downstream_gene_variant BLCA-US 7 17379440 17379440 single base substitution G T exon_variant BLCA-US 7 17379440 17379440 single base substitution G T missense_variant C664F 1991G>T BLCA-US 7 17382605 17382605 single base substitution C T downstream_gene_variant BLCA-US 7 17382605 17382605 single base substitution C T exon_variant BLCA-US 7 17382605 17382605 single base substitution C T stop_gained Q822* 2464C>T BLCA-US 7 17382607 17382607 single base substitution G C downstream_gene_variant BLCA-US 7 17382607 17382607 single base substitution G C exon_variant BLCA-US 7 17382607 17382607 single base substitution G C missense_variant Q822H 2466G>C BRCA-EU 7 17333250 17333250 single base substitution G A upstream_gene_variant BRCA-EU 7 17334892 17334892 single base substitution A G upstream_gene_variant BRCA-EU 7 17334926 17334926 single base substitution A T upstream_gene_variant BRCA-EU 7 17336420 17336420 single base substitution G A upstream_gene_variant BRCA-EU 7 17340413 17340413 single base substitution T G intron_variant BRCA-EU 7 17340664 17340666 deletion of <=200bp TAT - intron_variant BRCA-EU 7 17341374 17341374 single base substitution C T intron_variant BRCA-EU 7 17341668 17341668 single base substitution A G intron_variant BRCA-EU 7 17344284 17344284 single base substitution G A intron_variant BRCA-EU 7 17344746 17344746 insertion of <=200bp - A intron_variant BRCA-EU 7 17346036 17346036 single base substitution C G intron_variant BRCA-EU 7 17346426 17346426 single base substitution C G intron_variant BRCA-EU 7 17346445 17346445 single base substitution C G intron_variant BRCA-EU 7 17346493 17346493 single base substitution C T intron_variant BRCA-EU 7 17346726 17346726 single base substitution C G intron_variant BRCA-EU 7 17347054 17347054 single base substitution C T intron_variant BRCA-EU 7 17348739 17348743 deletion of <=200bp CTTTT - intron_variant BRCA-EU 7 17349883 17349883 single base substitution G T intron_variant BRCA-EU 7 17351752 17351752 single base substitution G A intron_variant BRCA-EU 7 17352874 17352874 single base substitution G C intron_variant BRCA-EU 7 17353083 17353083 single base substitution C G intron_variant BRCA-EU 7 17354371 17354371 single base substitution G C intron_variant BRCA-EU 7 17354895 17354895 single base substitution G C intron_variant BRCA-EU 7 17355761 17355761 single base substitution A C intron_variant BRCA-EU 7 17356383 17356383 deletion of <=200bp T - intron_variant BRCA-EU 7 17356523 17356523 insertion of <=200bp - T intron_variant BRCA-EU 7 17358597 17358597 single base substitution G A intron_variant BRCA-EU 7 17358934 17358934 single base substitution C T intron_variant BRCA-EU 7 17359021 17359021 single base substitution C A intron_variant BRCA-EU 7 17361250 17361250 deletion of <=200bp A - intron_variant BRCA-EU 7 17362984 17362984 single base substitution C T intron_variant BRCA-EU 7 17363702 17363703 deletion of <=200bp AG - intron_variant BRCA-EU 7 17364680 17364680 single base substitution G C intron_variant BRCA-EU 7 17364680 17364680 single base substitution G C upstream_gene_variant BRCA-EU 7 17366204 17366204 single base substitution T C intron_variant BRCA-EU 7 17366204 17366204 single base substitution T C upstream_gene_variant BRCA-EU 7 17366897 17366897 deletion of <=200bp T - intron_variant BRCA-EU 7 17366897 17366897 deletion of <=200bp T - upstream_gene_variant BRCA-EU 7 17367037 17367037 deletion of <=200bp A - intron_variant BRCA-EU 7 17367037 17367037 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 17367888 17367888 single base substitution G A intron_variant BRCA-EU 7 17367888 17367888 single base substitution G A upstream_gene_variant BRCA-EU 7 17368221 17368221 single base substitution C G intron_variant BRCA-EU 7 17368221 17368221 single base substitution C G upstream_gene_variant BRCA-EU 7 17371432 17371432 single base substitution C T intron_variant BRCA-EU 7 17371432 17371432 single base substitution C T upstream_gene_variant BRCA-EU 7 17371912 17371912 single base substitution T A intron_variant BRCA-EU 7 17371912 17371912 single base substitution T A upstream_gene_variant BRCA-EU 7 17372636 17372636 single base substitution A G intron_variant BRCA-EU 7 17372636 17372636 single base substitution A G upstream_gene_variant BRCA-EU 7 17375460 17375460 single base substitution C G downstream_gene_variant BRCA-EU 7 17375460 17375460 single base substitution C G exon_variant BRCA-EU 7 17375460 17375460 single base substitution C G intron_variant BRCA-EU 7 17375612 17375612 single base substitution T A downstream_gene_variant BRCA-EU 7 17375612 17375612 single base substitution T A exon_variant BRCA-EU 7 17375612 17375612 single base substitution T A intron_variant BRCA-EU 7 17375787 17375787 single base substitution C G downstream_gene_variant BRCA-EU 7 17375787 17375787 single base substitution C G intron_variant BRCA-EU 7 17376438 17376438 single base substitution T A downstream_gene_variant BRCA-EU 7 17376438 17376438 single base substitution T A intron_variant BRCA-EU 7 17376635 17376635 single base substitution G A downstream_gene_variant BRCA-EU 7 17376635 17376635 single base substitution G A intron_variant BRCA-EU 7 17376894 17376894 single base substitution C G downstream_gene_variant BRCA-EU 7 17376894 17376894 single base substitution C G intron_variant BRCA-EU 7 17378859 17378859 single base substitution T C downstream_gene_variant BRCA-EU 7 17378859 17378859 single base substitution T C exon_variant BRCA-EU 7 17378859 17378859 single base substitution T C synonymous_variant Y470Y 1410T>C BRCA-EU 7 17379212 17379212 single base substitution C G downstream_gene_variant BRCA-EU 7 17379212 17379212 single base substitution C G exon_variant BRCA-EU 7 17379212 17379212 single base substitution C G missense_variant S588C 1763C>G BRCA-EU 7 17379701 17379701 single base substitution G C downstream_gene_variant BRCA-EU 7 17379701 17379701 single base substitution G C exon_variant BRCA-EU 7 17379701 17379701 single base substitution G C missense_variant G751A 2252G>C BRCA-EU 7 17381045 17381045 single base substitution T C downstream_gene_variant BRCA-EU 7 17381045 17381045 single base substitution T C intron_variant BRCA-EU 7 17381286 17381286 single base substitution A G downstream_gene_variant BRCA-EU 7 17381286 17381286 single base substitution A G intron_variant BRCA-EU 7 17383034 17383034 single base substitution C G 3_prime_UTR_variant BRCA-EU 7 17383034 17383034 single base substitution C G downstream_gene_variant BRCA-EU 7 17383580 17383580 single base substitution C T 3_prime_UTR_variant BRCA-EU 7 17383580 17383580 single base substitution C T downstream_gene_variant BRCA-EU 7 17383580 17383580 single base substitution C T intron_variant BRCA-EU 7 17385075 17385075 single base substitution G A 3_prime_UTR_variant BRCA-EU 7 17385236 17385236 single base substitution G C 3_prime_UTR_variant BRCA-EU 7 17385279 17385279 single base substitution G C 3_prime_UTR_variant BRCA-EU 7 17385290 17385290 single base substitution G C 3_prime_UTR_variant BRCA-EU 7 17385443 17385443 single base substitution C T 3_prime_UTR_variant BRCA-EU 7 17385800 17385800 single base substitution G T downstream_gene_variant BRCA-EU 7 17385847 17385847 single base substitution G C downstream_gene_variant BRCA-EU 7 17386817 17386819 deletion of <=200bp CTT - downstream_gene_variant BRCA-EU 7 17387522 17387522 single base substitution A G downstream_gene_variant BRCA-EU 7 17389000 17389000 single base substitution G C downstream_gene_variant BRCA-EU 7 17389915 17389915 single base substitution G T downstream_gene_variant BRCA-FR 7 17347076 17347076 single base substitution G A intron_variant BRCA-FR 7 17352976 17352976 single base substitution G A intron_variant BRCA-FR 7 17362223 17362223 single base substitution T A exon_variant BRCA-FR 7 17362223 17362223 single base substitution T A missense_variant L118I 352T>A BRCA-FR 7 17364907 17364907 single base substitution G A intron_variant BRCA-FR 7 17364907 17364907 single base substitution G A upstream_gene_variant BRCA-FR 7 17369630 17369630 single base substitution G A exon_variant BRCA-FR 7 17369630 17369630 single base substitution G A missense_variant E169K 505G>A BRCA-FR 7 17369630 17369630 single base substitution G A upstream_gene_variant BRCA-FR 7 17381045 17381045 single base substitution T C downstream_gene_variant BRCA-FR 7 17381045 17381045 single base substitution T C intron_variant BRCA-FR 7 17385075 17385075 single base substitution G A 3_prime_UTR_variant BRCA-FR 7 17385236 17385236 single base substitution G C 3_prime_UTR_variant BRCA-FR 7 17385847 17385847 single base substitution G C downstream_gene_variant BRCA-UK 7 17378867 17378867 single base substitution C G downstream_gene_variant BRCA-UK 7 17378867 17378867 single base substitution C G exon_variant BRCA-UK 7 17378867 17378867 single base substitution C G stop_gained S473* 1418C>G BRCA-US 7 17349613 17349613 single base substitution G C exon_variant BRCA-US 7 17349613 17349613 single base substitution G C missense_variant R40T 119G>C BRCA-US 7 17378965 17378965 single base substitution G A downstream_gene_variant BRCA-US 7 17378965 17378965 single base substitution G A exon_variant BRCA-US 7 17378965 17378965 single base substitution G A missense_variant D506N 1516G>A BTCA-JP 7 17370261 17370261 single base substitution A T intron_variant BTCA-JP 7 17370261 17370261 single base substitution A T upstream_gene_variant BTCA-JP 7 17374617 17374617 single base substitution C T downstream_gene_variant BTCA-JP 7 17374617 17374617 single base substitution C T exon_variant BTCA-JP 7 17374617 17374617 single base substitution C T stop_gained R339* 1015C>T BTCA-JP 7 17374617 17374617 single base substitution C T upstream_gene_variant CESC-US 7 17379822 17379822 single base substitution A G downstream_gene_variant CESC-US 7 17379822 17379822 single base substitution A G exon_variant CESC-US 7 17379822 17379822 single base substitution A G synonymous_variant V791V 2373A>G CLLE-ES 7 17339661 17339661 single base substitution T A intron_variant CLLE-ES 7 17342381 17342381 single base substitution C T intron_variant CLLE-ES 7 17350316 17350316 single base substitution G A intron_variant CLLE-ES 7 17351112 17351112 single base substitution C G intron_variant CLLE-ES 7 17368808 17368808 single base substitution G C intron_variant CLLE-ES 7 17368808 17368808 single base substitution G C upstream_gene_variant CLLE-ES 7 17377838 17377838 single base substitution A G downstream_gene_variant CLLE-ES 7 17377838 17377838 single base substitution A G intron_variant COAD-US 7 17349626 17349626 single base substitution T C exon_variant COAD-US 7 17349626 17349626 single base substitution T C synonymous_variant N44N 132T>C COAD-US 7 17370462 17370462 single base substitution C T exon_variant COAD-US 7 17370462 17370462 single base substitution C T synonymous_variant C219C 657C>T COAD-US 7 17370462 17370462 single base substitution C T upstream_gene_variant COAD-US 7 17378922 17378922 single base substitution T A downstream_gene_variant COAD-US 7 17378922 17378922 single base substitution T A exon_variant COAD-US 7 17378922 17378922 single base substitution T A missense_variant N491K 1473T>A COAD-US 7 17379095 17379098 deletion of <=200bp ATTT - downstream_gene_variant COAD-US 7 17379095 17379098 deletion of <=200bp ATTT - exon_variant COAD-US 7 17379095 17379098 deletion of <=200bp ATTT - frameshift_variant DF549 COCA-CN 7 17342417 17342417 single base substitution A G intron_variant COCA-CN 7 17369570 17369570 single base substitution C A exon_variant COCA-CN 7 17369570 17369570 single base substitution C A splice_region_variant COCA-CN 7 17369570 17369570 single base substitution C A upstream_gene_variant COCA-CN 7 17370522 17370522 single base substitution A C intron_variant COCA-CN 7 17370522 17370522 single base substitution A C upstream_gene_variant COCA-CN 7 17374572 17374572 single base substitution T C downstream_gene_variant COCA-CN 7 17374572 17374572 single base substitution T C exon_variant COCA-CN 7 17374572 17374572 single base substitution T C missense_variant F324L 970T>C COCA-CN 7 17374572 17374572 single base substitution T C upstream_gene_variant COCA-CN 7 17378649 17378649 single base substitution G A downstream_gene_variant COCA-CN 7 17378649 17378649 single base substitution G A exon_variant COCA-CN 7 17378649 17378649 single base substitution G A synonymous_variant T400T 1200G>A COCA-CN 7 17378911 17378911 single base substitution G A downstream_gene_variant COCA-CN 7 17378911 17378911 single base substitution G A exon_variant COCA-CN 7 17378911 17378911 single base substitution G A missense_variant E488K 1462G>A COCA-CN 7 17379131 17379131 single base substitution T G downstream_gene_variant COCA-CN 7 17379131 17379131 single base substitution T G exon_variant COCA-CN 7 17379131 17379131 single base substitution T G missense_variant F561C 1682T>G COCA-CN 7 17379681 17379681 single base substitution T C downstream_gene_variant COCA-CN 7 17379681 17379681 single base substitution T C exon_variant COCA-CN 7 17379681 17379681 single base substitution T C synonymous_variant L744L 2232T>C COCA-CN 7 17379796 17379796 single base substitution G A downstream_gene_variant COCA-CN 7 17379796 17379796 single base substitution G A exon_variant COCA-CN 7 17379796 17379796 single base substitution G A missense_variant V783M 2347G>A EOPC-DE 7 17341535 17341535 single base substitution A G intron_variant ESAD-UK 7 17334012 17334012 single base substitution T G upstream_gene_variant ESAD-UK 7 17334192 17334192 single base substitution T C upstream_gene_variant ESAD-UK 7 17336039 17336039 single base substitution C A upstream_gene_variant ESAD-UK 7 17339992 17339992 insertion of <=200bp - TAGA intron_variant ESAD-UK 7 17340578 17340578 single base substitution C T intron_variant ESAD-UK 7 17341574 17341574 single base substitution C T intron_variant ESAD-UK 7 17342435 17342435 insertion of <=200bp - T intron_variant ESAD-UK 7 17342618 17342618 single base substitution A G intron_variant ESAD-UK 7 17343531 17343531 single base substitution C T intron_variant ESAD-UK 7 17345226 17345226 single base substitution T C intron_variant ESAD-UK 7 17348007 17348007 single base substitution C T intron_variant ESAD-UK 7 17350061 17350061 single base substitution A T intron_variant ESAD-UK 7 17350275 17350275 single base substitution C T intron_variant ESAD-UK 7 17355172 17355172 single base substitution G A intron_variant ESAD-UK 7 17356820 17356820 single base substitution T G intron_variant ESAD-UK 7 17358619 17358619 single base substitution C T intron_variant ESAD-UK 7 17359398 17359398 single base substitution G C intron_variant ESAD-UK 7 17369016 17369016 single base substitution T A intron_variant ESAD-UK 7 17369016 17369016 single base substitution T A upstream_gene_variant ESAD-UK 7 17370204 17370204 single base substitution G A intron_variant ESAD-UK 7 17370204 17370204 single base substitution G A upstream_gene_variant ESAD-UK 7 17370789 17370789 single base substitution C T intron_variant ESAD-UK 7 17370789 17370789 single base substitution C T upstream_gene_variant ESAD-UK 7 17371170 17371170 single base substitution T A intron_variant ESAD-UK 7 17371170 17371170 single base substitution T A upstream_gene_variant ESAD-UK 7 17376560 17376560 single base substitution C G downstream_gene_variant ESAD-UK 7 17376560 17376560 single base substitution C G intron_variant ESAD-UK 7 17379154 17379154 single base substitution G A downstream_gene_variant ESAD-UK 7 17379154 17379154 single base substitution G A exon_variant ESAD-UK 7 17379154 17379154 single base substitution G A missense_variant E569K 1705G>A ESAD-UK 7 17379292 17379292 single base substitution G T downstream_gene_variant ESAD-UK 7 17379292 17379292 single base substitution G T exon_variant ESAD-UK 7 17379292 17379292 single base substitution G T stop_gained E615* 1843G>T ESAD-UK 7 17380307 17380307 single base substitution A T downstream_gene_variant ESAD-UK 7 17380307 17380307 single base substitution A T intron_variant ESAD-UK 7 17380521 17380521 single base substitution G C downstream_gene_variant ESAD-UK 7 17380521 17380521 single base substitution G C intron_variant ESAD-UK 7 17381028 17381028 single base substitution A G downstream_gene_variant ESAD-UK 7 17381028 17381028 single base substitution A G intron_variant ESAD-UK 7 17382502 17382502 single base substitution G A downstream_gene_variant ESAD-UK 7 17382502 17382502 single base substitution G A intron_variant ESAD-UK 7 17384350 17384350 single base substitution T C 3_prime_UTR_variant ESAD-UK 7 17384350 17384350 single base substitution T C intron_variant ESAD-UK 7 17385713 17385713 single base substitution A C 3_prime_UTR_variant ESAD-UK 7 17385721 17385721 single base substitution C T 3_prime_UTR_variant ESAD-UK 7 17387964 17387964 single base substitution A G downstream_gene_variant ESAD-UK 7 17389974 17389974 single base substitution G A downstream_gene_variant ESAD-UK 7 17390319 17390319 single base substitution G A downstream_gene_variant ESCA-CN 7 17379784 17379784 single base substitution C T downstream_gene_variant ESCA-CN 7 17379784 17379784 single base substitution C T exon_variant ESCA-CN 7 17379784 17379784 single base substitution C T stop_gained Q779* 2335C>T GBM-US 7 17367444 17367444 single base substitution C A exon_variant GBM-US 7 17367444 17367444 single base substitution C A missense_variant T141N 422C>A GBM-US 7 17367444 17367444 single base substitution C A upstream_gene_variant GBM-US 7 17375305 17375305 single base substitution G A downstream_gene_variant GBM-US 7 17375305 17375305 single base substitution G A exon_variant GBM-US 7 17375305 17375305 single base substitution G A missense_variant R352Q 1055G>A GBM-US 7 17378648 17378648 single base substitution C T downstream_gene_variant GBM-US 7 17378648 17378648 single base substitution C T exon_variant GBM-US 7 17378648 17378648 single base substitution C T missense_variant T400M 1199C>T KIRC-US 7 17378783 17378783 single base substitution C T downstream_gene_variant KIRC-US 7 17378783 17378783 single base substitution C T exon_variant KIRC-US 7 17378783 17378783 single base substitution C T missense_variant T445I 1334C>T KIRC-US 7 17379447 17379447 insertion of <=200bp - C downstream_gene_variant KIRC-US 7 17379447 17379447 insertion of <=200bp - C exon_variant KIRC-US 7 17379447 17379447 insertion of <=200bp - C frameshift_variant Q666H? KIRC-US 7 17382681 17382681 single base substitution T A downstream_gene_variant KIRC-US 7 17382681 17382681 single base substitution T A exon_variant KIRC-US 7 17382681 17382681 single base substitution T A missense_variant F847Y 2540T>A KIRP-US 7 17362177 17362177 single base substitution A T exon_variant KIRP-US 7 17362177 17362177 single base substitution A T missense_variant R102S 306A>T KIRP-US 7 17375399 17375399 single base substitution G C downstream_gene_variant KIRP-US 7 17375399 17375399 single base substitution G C exon_variant KIRP-US 7 17375399 17375399 single base substitution G C missense_variant Q383H 1149G>C LAML-KR 7 17338219 17338219 single base substitution C G upstream_gene_variant LGG-US 7 17379139 17379139 single base substitution A T downstream_gene_variant LGG-US 7 17379139 17379139 single base substitution A T exon_variant LGG-US 7 17379139 17379139 single base substitution A T missense_variant N564Y 1690A>T LICA-FR 7 17338941 17338941 single base substitution C T exon_variant LICA-FR 7 17338941 17338941 single base substitution C T missense_variant P18L 53C>T LICA-FR 7 17342358 17342358 single base substitution C T intron_variant LICA-FR 7 17347974 17347974 single base substitution A G intron_variant LICA-FR 7 17367470 17367470 single base substitution C A missense_variant Q150K 448C>A LICA-FR 7 17367470 17367470 single base substitution C A splice_region_variant LICA-FR 7 17367470 17367470 single base substitution C A upstream_gene_variant LICA-FR 7 17370486 17370486 single base substitution G T exon_variant LICA-FR 7 17370486 17370486 single base substitution G T synonymous_variant L227L 681G>T LICA-FR 7 17370486 17370486 single base substitution G T upstream_gene_variant LICA-FR 7 17374553 17374553 single base substitution G A downstream_gene_variant LICA-FR 7 17374553 17374553 single base substitution G A exon_variant LICA-FR 7 17374553 17374553 single base substitution G A synonymous_variant T317T 951G>A LICA-FR 7 17374553 17374553 single base substitution G A upstream_gene_variant LIHC-US 7 17379497 17379497 single base substitution A G downstream_gene_variant LIHC-US 7 17379497 17379497 single base substitution A G exon_variant LIHC-US 7 17379497 17379497 single base substitution A G missense_variant Q683R 2048A>G LIHC-US 7 17382597 17382597 single base substitution A C downstream_gene_variant LIHC-US 7 17382597 17382597 single base substitution A C exon_variant LIHC-US 7 17382597 17382597 single base substitution A C missense_variant N819T 2456A>C LIHC-US 7 17382606 17382606 single base substitution A C downstream_gene_variant LIHC-US 7 17382606 17382606 single base substitution A C exon_variant LIHC-US 7 17382606 17382606 single base substitution A C missense_variant Q822P 2465A>C LIHC-US 7 17382611 17382611 single base substitution A G downstream_gene_variant LIHC-US 7 17382611 17382611 single base substitution A G exon_variant LIHC-US 7 17382611 17382611 single base substitution A G missense_variant T824A 2470A>G LINC-JP 7 17338027 17338032 deletion of <=200bp CTTTGT - upstream_gene_variant LINC-JP 7 17344867 17344867 single base substitution T G intron_variant LINC-JP 7 17344879 17344879 single base substitution T C intron_variant LINC-JP 7 17359430 17359430 insertion of <=200bp - G intron_variant LINC-JP 7 17373440 17373440 single base substitution A G intron_variant LINC-JP 7 17373440 17373440 single base substitution A G upstream_gene_variant LINC-JP 7 17382368 17382368 single base substitution A G downstream_gene_variant LINC-JP 7 17382368 17382368 single base substitution A G intron_variant LIRI-JP 7 17334659 17334659 single base substitution T G upstream_gene_variant LIRI-JP 7 17336305 17336305 single base substitution A G upstream_gene_variant LIRI-JP 7 17337431 17337431 single base substitution C T upstream_gene_variant LIRI-JP 7 17339067 17339067 single base substitution C T intron_variant LIRI-JP 7 17339795 17339795 single base substitution T A intron_variant LIRI-JP 7 17340302 17340302 single base substitution A C intron_variant LIRI-JP 7 17340499 17340499 single base substitution C A intron_variant LIRI-JP 7 17340580 17340580 single base substitution A G intron_variant LIRI-JP 7 17341371 17341371 single base substitution A C intron_variant LIRI-JP 7 17341538 17341538 single base substitution A G intron_variant LIRI-JP 7 17341890 17341890 insertion of <=200bp - G intron_variant LIRI-JP 7 17342528 17342528 single base substitution A G intron_variant LIRI-JP 7 17343228 17343228 single base substitution A G intron_variant LIRI-JP 7 17344342 17344342 single base substitution A C intron_variant LIRI-JP 7 17345941 17345941 single base substitution T G intron_variant LIRI-JP 7 17346165 17346165 single base substitution T C intron_variant LIRI-JP 7 17346524 17346524 single base substitution A G intron_variant LIRI-JP 7 17346569 17346569 single base substitution T C intron_variant LIRI-JP 7 17346797 17346797 single base substitution A G intron_variant LIRI-JP 7 17346805 17346805 single base substitution A G intron_variant LIRI-JP 7 17348313 17348316 deletion of <=200bp ATAC - intron_variant LIRI-JP 7 17349024 17349024 single base substitution G T intron_variant LIRI-JP 7 17349326 17349327 deletion of <=200bp AT - intron_variant LIRI-JP 7 17350831 17350831 single base substitution A G intron_variant LIRI-JP 7 17353591 17353591 single base substitution A G intron_variant LIRI-JP 7 17354767 17354770 deletion of <=200bp AATA - intron_variant LIRI-JP 7 17355922 17355922 single base substitution T G intron_variant LIRI-JP 7 17355990 17355990 single base substitution C A intron_variant LIRI-JP 7 17359097 17359097 single base substitution C T intron_variant LIRI-JP 7 17359680 17359680 single base substitution T G intron_variant LIRI-JP 7 17359999 17359999 single base substitution A C intron_variant LIRI-JP 7 17360055 17360055 single base substitution T C intron_variant LIRI-JP 7 17360274 17360274 single base substitution T C intron_variant LIRI-JP 7 17360551 17360551 single base substitution A G intron_variant LIRI-JP 7 17360852 17360852 single base substitution A G intron_variant LIRI-JP 7 17364200 17364200 single base substitution G A intron_variant LIRI-JP 7 17364737 17364737 single base substitution A T intron_variant LIRI-JP 7 17364737 17364737 single base substitution A T upstream_gene_variant LIRI-JP 7 17366260 17366260 single base substitution A G intron_variant LIRI-JP 7 17366260 17366260 single base substitution A G upstream_gene_variant LIRI-JP 7 17369126 17369126 single base substitution G A intron_variant LIRI-JP 7 17369126 17369126 single base substitution G A upstream_gene_variant LIRI-JP 7 17369703 17369703 single base substitution A C intron_variant LIRI-JP 7 17369703 17369703 single base substitution A C splice_region_variant LIRI-JP 7 17369703 17369703 single base substitution A C upstream_gene_variant LIRI-JP 7 17369952 17369952 single base substitution A T intron_variant LIRI-JP 7 17369952 17369952 single base substitution A T upstream_gene_variant LIRI-JP 7 17369987 17369987 single base substitution A G intron_variant LIRI-JP 7 17369987 17369987 single base substitution A G upstream_gene_variant LIRI-JP 7 17371539 17371539 single base substitution T G intron_variant LIRI-JP 7 17371539 17371539 single base substitution T G upstream_gene_variant LIRI-JP 7 17372683 17372683 single base substitution A G intron_variant LIRI-JP 7 17372683 17372683 single base substitution A G upstream_gene_variant LIRI-JP 7 17372758 17372758 single base substitution A G intron_variant LIRI-JP 7 17372758 17372758 single base substitution A G upstream_gene_variant LIRI-JP 7 17373580 17373580 single base substitution A G downstream_gene_variant LIRI-JP 7 17373580 17373580 single base substitution A G exon_variant LIRI-JP 7 17373580 17373580 single base substitution A G synonymous_variant K250K 750A>G LIRI-JP 7 17373580 17373580 single base substitution A G upstream_gene_variant LIRI-JP 7 17376024 17376024 single base substitution A C downstream_gene_variant LIRI-JP 7 17376024 17376024 single base substitution A C intron_variant LIRI-JP 7 17378901 17378901 single base substitution C G downstream_gene_variant LIRI-JP 7 17378901 17378901 single base substitution C G exon_variant LIRI-JP 7 17378901 17378901 single base substitution C G missense_variant N484K 1452C>G LIRI-JP 7 17383281 17383281 single base substitution A G 3_prime_UTR_variant LIRI-JP 7 17383281 17383281 single base substitution A G downstream_gene_variant LIRI-JP 7 17385579 17385579 single base substitution C G 3_prime_UTR_variant LIRI-JP 7 17386093 17386093 single base substitution A G downstream_gene_variant LIRI-JP 7 17386109 17386109 single base substitution G A downstream_gene_variant LIRI-JP 7 17386353 17386353 single base substitution A G downstream_gene_variant LIRI-JP 7 17386526 17386526 single base substitution G C downstream_gene_variant LIRI-JP 7 17386967 17386967 single base substitution C G downstream_gene_variant LIRI-JP 7 17387301 17387301 single base substitution G A downstream_gene_variant LIRI-JP 7 17389263 17389263 single base substitution G A downstream_gene_variant LIRI-JP 7 17389430 17389430 single base substitution A G downstream_gene_variant LIRI-JP 7 17390481 17390481 single base substitution G C downstream_gene_variant LUSC-KR 7 17340754 17340754 single base substitution T A intron_variant LUSC-KR 7 17345098 17345098 single base substitution G C intron_variant LUSC-KR 7 17349626 17349626 single base substitution T C exon_variant LUSC-KR 7 17349626 17349626 single base substitution T C synonymous_variant N44N 132T>C LUSC-KR 7 17352069 17352069 single base substitution G C intron_variant LUSC-KR 7 17353370 17353370 single base substitution T G intron_variant LUSC-KR 7 17354281 17354281 single base substitution G A intron_variant LUSC-KR 7 17359415 17359415 single base substitution G C intron_variant LUSC-KR 7 17361882 17361882 single base substitution A G intron_variant LUSC-KR 7 17370751 17370751 single base substitution G T intron_variant LUSC-KR 7 17370751 17370751 single base substitution G T upstream_gene_variant LUSC-KR 7 17373641 17373641 single base substitution C G downstream_gene_variant LUSC-KR 7 17373641 17373641 single base substitution C G exon_variant LUSC-KR 7 17373641 17373641 single base substitution C G missense_variant P271A 811C>G LUSC-KR 7 17373641 17373641 single base substitution C G upstream_gene_variant LUSC-KR 7 17373783 17373783 single base substitution G A downstream_gene_variant LUSC-KR 7 17373783 17373783 single base substitution G A intron_variant LUSC-KR 7 17373783 17373783 single base substitution G A upstream_gene_variant LUSC-KR 7 17378564 17378564 single base substitution T A downstream_gene_variant LUSC-KR 7 17378564 17378564 single base substitution T A intron_variant LUSC-KR 7 17381066 17381066 single base substitution G T downstream_gene_variant LUSC-KR 7 17381066 17381066 single base substitution G T intron_variant LUSC-KR 7 17382425 17382425 single base substitution G T downstream_gene_variant LUSC-KR 7 17382425 17382425 single base substitution G T intron_variant LUSC-KR 7 17386045 17386045 single base substitution C T downstream_gene_variant LUSC-KR 7 17387350 17387350 single base substitution A T downstream_gene_variant LUSC-US 7 17378616 17378616 single base substitution G T downstream_gene_variant LUSC-US 7 17378616 17378616 single base substitution G T exon_variant LUSC-US 7 17378616 17378616 single base substitution G T missense_variant E389D 1167G>T MALY-DE 7 17338593 17338593 single base substitution G T 5_prime_UTR_variant MALY-DE 7 17338679 17338679 single base substitution C G 5_prime_UTR_variant MALY-DE 7 17338689 17338689 single base substitution C G 5_prime_UTR_variant MALY-DE 7 17338757 17338757 single base substitution G C 5_prime_UTR_variant MALY-DE 7 17338799 17338799 single base substitution C T 5_prime_UTR_variant MALY-DE 7 17338818 17338818 single base substitution C A 5_prime_UTR_variant MALY-DE 7 17338879 17338879 single base substitution G A 5_prime_UTR_variant MALY-DE 7 17338891 17338891 single base substitution G A exon_variant MALY-DE 7 17338891 17338891 single base substitution G A start_lost M1I 3G>A MALY-DE 7 17338974 17338974 single base substitution C T intron_variant MALY-DE 7 17338983 17338983 single base substitution G T intron_variant MALY-DE 7 17339126 17339126 single base substitution C T intron_variant MALY-DE 7 17339196 17339196 single base substitution C G intron_variant MALY-DE 7 17339412 17339412 single base substitution C T intron_variant MALY-DE 7 17339429 17339429 single base substitution G A intron_variant MALY-DE 7 17339557 17339557 single base substitution G A intron_variant MALY-DE 7 17339682 17339682 single base substitution C A intron_variant MALY-DE 7 17341723 17341723 single base substitution T C intron_variant MALY-DE 7 17342434 17342434 single base substitution A T intron_variant MALY-DE 7 17343334 17343334 insertion of <=200bp - G intron_variant MALY-DE 7 17346662 17346662 single base substitution A C intron_variant MALY-DE 7 17346961 17346961 single base substitution A G intron_variant MALY-DE 7 17347931 17347931 single base substitution T G intron_variant MALY-DE 7 17348325 17348326 deletion of <=200bp AC - intron_variant MALY-DE 7 17348422 17348422 single base substitution A C intron_variant MALY-DE 7 17351421 17351421 single base substitution C T intron_variant MALY-DE 7 17361466 17361466 single base substitution G T intron_variant MALY-DE 7 17362451 17362451 single base substitution C T intron_variant MALY-DE 7 17370278 17370279 deletion of <=200bp AC - intron_variant MALY-DE 7 17370278 17370279 deletion of <=200bp AC - upstream_gene_variant MALY-DE 7 17379998 17379998 deletion of <=200bp T - downstream_gene_variant MALY-DE 7 17379998 17379998 deletion of <=200bp T - intron_variant MALY-DE 7 17389430 17389430 single base substitution A T downstream_gene_variant MELA-AU 7 17333839 17333839 single base substitution C T upstream_gene_variant MELA-AU 7 17333849 17333849 single base substitution A T upstream_gene_variant MELA-AU 7 17333976 17333977 multiple base substitution (>=2bp and <=200bp) TT AA upstream_gene_variant MELA-AU 7 17334038 17334038 single base substitution C T upstream_gene_variant MELA-AU 7 17334183 17334183 single base substitution G A upstream_gene_variant MELA-AU 7 17334199 17334199 single base substitution G A upstream_gene_variant MELA-AU 7 17334500 17334500 single base substitution G A upstream_gene_variant MELA-AU 7 17335051 17335051 single base substitution G A upstream_gene_variant MELA-AU 7 17335353 17335353 single base substitution C T upstream_gene_variant MELA-AU 7 17335811 17335811 single base substitution G A upstream_gene_variant MELA-AU 7 17336052 17336052 single base substitution A C upstream_gene_variant MELA-AU 7 17336601 17336601 single base substitution C T upstream_gene_variant MELA-AU 7 17336785 17336785 single base substitution G A upstream_gene_variant MELA-AU 7 17337063 17337063 single base substitution T A upstream_gene_variant MELA-AU 7 17337599 17337599 single base substitution T C upstream_gene_variant MELA-AU 7 17339361 17339361 single base substitution A T intron_variant MELA-AU 7 17339432 17339432 single base substitution G A intron_variant MELA-AU 7 17339718 17339718 single base substitution C T intron_variant MELA-AU 7 17340167 17340167 single base substitution G A intron_variant MELA-AU 7 17340582 17340582 single base substitution A G intron_variant MELA-AU 7 17341422 17341422 single base substitution C T intron_variant MELA-AU 7 17341591 17341591 single base substitution G A intron_variant MELA-AU 7 17341646 17341646 single base substitution T C intron_variant MELA-AU 7 17343167 17343167 single base substitution C T intron_variant MELA-AU 7 17343275 17343275 single base substitution C T intron_variant MELA-AU 7 17343332 17343332 single base substitution C T intron_variant MELA-AU 7 17343382 17343382 single base substitution C T intron_variant MELA-AU 7 17345657 17345657 single base substitution C T intron_variant MELA-AU 7 17346417 17346417 single base substitution C T intron_variant MELA-AU 7 17346656 17346656 single base substitution T C intron_variant MELA-AU 7 17347136 17347136 single base substitution T C intron_variant MELA-AU 7 17347469 17347469 single base substitution A G intron_variant MELA-AU 7 17348765 17348765 single base substitution C T intron_variant MELA-AU 7 17349369 17349369 single base substitution G A intron_variant MELA-AU 7 17349386 17349386 single base substitution C T intron_variant MELA-AU 7 17350149 17350149 single base substitution A G intron_variant MELA-AU 7 17350414 17350414 single base substitution C T intron_variant MELA-AU 7 17351146 17351146 single base substitution C T intron_variant MELA-AU 7 17352280 17352280 single base substitution T C intron_variant MELA-AU 7 17352778 17352778 single base substitution T A intron_variant MELA-AU 7 17352947 17352947 single base substitution C T intron_variant MELA-AU 7 17353655 17353655 single base substitution T A intron_variant MELA-AU 7 17353732 17353732 single base substitution C T intron_variant MELA-AU 7 17355218 17355218 single base substitution A C intron_variant MELA-AU 7 17355474 17355474 single base substitution A G intron_variant MELA-AU 7 17355627 17355627 single base substitution A G intron_variant MELA-AU 7 17355990 17355990 single base substitution C T intron_variant MELA-AU 7 17358089 17358089 single base substitution C T intron_variant MELA-AU 7 17358195 17358195 single base substitution T C intron_variant MELA-AU 7 17358361 17358361 single base substitution T G intron_variant MELA-AU 7 17359626 17359626 single base substitution G A intron_variant MELA-AU 7 17359809 17359809 single base substitution T C intron_variant MELA-AU 7 17360296 17360296 single base substitution C T intron_variant MELA-AU 7 17360351 17360351 single base substitution T A intron_variant MELA-AU 7 17360675 17360675 single base substitution A G intron_variant MELA-AU 7 17360982 17360982 deletion of <=200bp A - intron_variant MELA-AU 7 17361254 17361254 single base substitution A G intron_variant MELA-AU 7 17362146 17362146 single base substitution C T exon_variant MELA-AU 7 17362146 17362146 single base substitution C T missense_variant T92I 275C>T MELA-AU 7 17362933 17362933 single base substitution C T intron_variant MELA-AU 7 17363495 17363495 single base substitution G A intron_variant MELA-AU 7 17363898 17363898 single base substitution T C intron_variant MELA-AU 7 17364058 17364059 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 17364093 17364093 single base substitution C T intron_variant MELA-AU 7 17364308 17364308 single base substitution C T intron_variant MELA-AU 7 17364475 17364475 single base substitution T G intron_variant MELA-AU 7 17364479 17364479 single base substitution A G intron_variant MELA-AU 7 17364622 17364622 single base substitution C T intron_variant MELA-AU 7 17364622 17364622 single base substitution C T upstream_gene_variant MELA-AU 7 17364901 17364901 single base substitution T C intron_variant MELA-AU 7 17364901 17364901 single base substitution T C upstream_gene_variant MELA-AU 7 17365890 17365890 single base substitution C T intron_variant MELA-AU 7 17365890 17365890 single base substitution C T upstream_gene_variant MELA-AU 7 17366274 17366274 single base substitution T C intron_variant MELA-AU 7 17366274 17366274 single base substitution T C upstream_gene_variant MELA-AU 7 17366285 17366285 single base substitution G C intron_variant MELA-AU 7 17366285 17366285 single base substitution G C upstream_gene_variant MELA-AU 7 17366587 17366587 single base substitution T C intron_variant MELA-AU 7 17366587 17366587 single base substitution T C upstream_gene_variant MELA-AU 7 17367645 17367645 single base substitution C T intron_variant MELA-AU 7 17367645 17367645 single base substitution C T upstream_gene_variant MELA-AU 7 17367689 17367689 single base substitution C T intron_variant MELA-AU 7 17367689 17367689 single base substitution C T upstream_gene_variant MELA-AU 7 17367811 17367811 single base substitution G A intron_variant MELA-AU 7 17367811 17367811 single base substitution G A upstream_gene_variant MELA-AU 7 17367845 17367845 single base substitution C T intron_variant MELA-AU 7 17367845 17367845 single base substitution C T upstream_gene_variant MELA-AU 7 17368278 17368278 single base substitution C T intron_variant MELA-AU 7 17368278 17368278 single base substitution C T upstream_gene_variant MELA-AU 7 17368705 17368705 single base substitution C T intron_variant MELA-AU 7 17368705 17368705 single base substitution C T upstream_gene_variant MELA-AU 7 17368931 17368931 single base substitution C T intron_variant MELA-AU 7 17368931 17368931 single base substitution C T upstream_gene_variant MELA-AU 7 17369555 17369555 single base substitution C T exon_variant MELA-AU 7 17369555 17369555 single base substitution C T intron_variant MELA-AU 7 17369555 17369555 single base substitution C T upstream_gene_variant MELA-AU 7 17369663 17369663 single base substitution C T exon_variant MELA-AU 7 17369663 17369663 single base substitution C T missense_variant P180S 538C>T MELA-AU 7 17369663 17369663 single base substitution C T upstream_gene_variant MELA-AU 7 17372200 17372200 single base substitution A T intron_variant MELA-AU 7 17372200 17372200 single base substitution A T upstream_gene_variant MELA-AU 7 17374069 17374069 single base substitution C T downstream_gene_variant MELA-AU 7 17374069 17374069 single base substitution C T intron_variant MELA-AU 7 17374069 17374069 single base substitution C T upstream_gene_variant MELA-AU 7 17374182 17374182 single base substitution C T downstream_gene_variant MELA-AU 7 17374182 17374182 single base substitution C T intron_variant MELA-AU 7 17374182 17374182 single base substitution C T upstream_gene_variant MELA-AU 7 17374635 17374635 single base substitution C T downstream_gene_variant MELA-AU 7 17374635 17374635 single base substitution C T intron_variant MELA-AU 7 17374635 17374635 single base substitution C T upstream_gene_variant MELA-AU 7 17375641 17375641 single base substitution A G downstream_gene_variant MELA-AU 7 17375641 17375641 single base substitution A G exon_variant MELA-AU 7 17375641 17375641 single base substitution A G intron_variant MELA-AU 7 17375864 17375864 single base substitution C T downstream_gene_variant MELA-AU 7 17375864 17375864 single base substitution C T intron_variant MELA-AU 7 17376242 17376242 single base substitution C T downstream_gene_variant MELA-AU 7 17376242 17376242 single base substitution C T intron_variant MELA-AU 7 17376999 17376999 single base substitution A G downstream_gene_variant MELA-AU 7 17376999 17376999 single base substitution A G intron_variant MELA-AU 7 17377246 17377246 single base substitution C T downstream_gene_variant MELA-AU 7 17377246 17377246 single base substitution C T intron_variant MELA-AU 7 17377858 17377858 single base substitution A G downstream_gene_variant MELA-AU 7 17377858 17377858 single base substitution A G intron_variant MELA-AU 7 17378205 17378205 single base substitution C T downstream_gene_variant MELA-AU 7 17378205 17378205 single base substitution C T intron_variant MELA-AU 7 17378879 17378879 single base substitution G A downstream_gene_variant MELA-AU 7 17378879 17378879 single base substitution G A exon_variant MELA-AU 7 17378879 17378879 single base substitution G A missense_variant S477N 1430G>A MELA-AU 7 17379226 17379226 single base substitution C T downstream_gene_variant MELA-AU 7 17379226 17379226 single base substitution C T exon_variant MELA-AU 7 17379226 17379226 single base substitution C T missense_variant P593S 1777C>T MELA-AU 7 17379749 17379749 single base substitution G C downstream_gene_variant MELA-AU 7 17379749 17379749 single base substitution G C exon_variant MELA-AU 7 17379749 17379749 single base substitution G C missense_variant G767A 2300G>C MELA-AU 7 17381421 17381421 single base substitution A T downstream_gene_variant MELA-AU 7 17381421 17381421 single base substitution A T intron_variant MELA-AU 7 17381741 17381741 single base substitution A G downstream_gene_variant MELA-AU 7 17381741 17381741 single base substitution A G intron_variant MELA-AU 7 17381797 17381797 single base substitution A G downstream_gene_variant MELA-AU 7 17381797 17381797 single base substitution A G intron_variant MELA-AU 7 17381870 17381870 single base substitution C T downstream_gene_variant MELA-AU 7 17381870 17381870 single base substitution C T intron_variant MELA-AU 7 17381972 17381972 single base substitution T C downstream_gene_variant MELA-AU 7 17381972 17381972 single base substitution T C intron_variant MELA-AU 7 17382047 17382047 single base substitution C T downstream_gene_variant MELA-AU 7 17382047 17382047 single base substitution C T intron_variant MELA-AU 7 17382196 17382196 single base substitution T G downstream_gene_variant MELA-AU 7 17382196 17382196 single base substitution T G intron_variant MELA-AU 7 17383127 17383127 single base substitution C A 3_prime_UTR_variant MELA-AU 7 17383127 17383127 single base substitution C A downstream_gene_variant MELA-AU 7 17383253 17383253 single base substitution C T 3_prime_UTR_variant MELA-AU 7 17383253 17383253 single base substitution C T downstream_gene_variant MELA-AU 7 17383792 17383792 single base substitution C T 3_prime_UTR_variant MELA-AU 7 17383792 17383792 single base substitution C T downstream_gene_variant MELA-AU 7 17383792 17383792 single base substitution C T intron_variant MELA-AU 7 17383826 17383826 single base substitution C T 3_prime_UTR_variant MELA-AU 7 17383826 17383826 single base substitution C T downstream_gene_variant MELA-AU 7 17383826 17383826 single base substitution C T intron_variant MELA-AU 7 17383902 17383902 single base substitution T C 3_prime_UTR_variant MELA-AU 7 17383902 17383902 single base substitution T C downstream_gene_variant MELA-AU 7 17383902 17383902 single base substitution T C intron_variant MELA-AU 7 17383957 17383957 single base substitution A G 3_prime_UTR_variant MELA-AU 7 17383957 17383957 single base substitution A G downstream_gene_variant MELA-AU 7 17383957 17383957 single base substitution A G intron_variant MELA-AU 7 17384000 17384000 single base substitution C T 3_prime_UTR_variant MELA-AU 7 17384000 17384000 single base substitution C T downstream_gene_variant MELA-AU 7 17384000 17384000 single base substitution C T intron_variant MELA-AU 7 17384449 17384449 single base substitution C T 3_prime_UTR_variant MELA-AU 7 17384449 17384449 single base substitution C T intron_variant MELA-AU 7 17385056 17385056 single base substitution C T 3_prime_UTR_variant MELA-AU 7 17386097 17386097 single base substitution C T downstream_gene_variant MELA-AU 7 17386856 17386856 single base substitution C T downstream_gene_variant MELA-AU 7 17386860 17386860 single base substitution G A downstream_gene_variant MELA-AU 7 17387160 17387160 single base substitution C A downstream_gene_variant MELA-AU 7 17387589 17387589 single base substitution G A downstream_gene_variant MELA-AU 7 17388606 17388606 single base substitution C T downstream_gene_variant MELA-AU 7 17388790 17388790 single base substitution C T downstream_gene_variant MELA-AU 7 17388905 17388905 single base substitution C T downstream_gene_variant MELA-AU 7 17388909 17388910 multiple base substitution (>=2bp and <=200bp) GG AC downstream_gene_variant MELA-AU 7 17389442 17389442 single base substitution G C downstream_gene_variant MELA-AU 7 17389505 17389505 single base substitution C T downstream_gene_variant MELA-AU 7 17389538 17389538 single base substitution C T downstream_gene_variant MELA-AU 7 17390076 17390076 single base substitution C T downstream_gene_variant MELA-AU 7 17390142 17390142 single base substitution C A downstream_gene_variant MELA-AU 7 17390204 17390204 single base substitution C T downstream_gene_variant OV-AU 7 17337526 17337526 single base substitution G C upstream_gene_variant OV-AU 7 17338148 17338148 single base substitution G C upstream_gene_variant OV-AU 7 17340826 17340826 single base substitution C A intron_variant OV-AU 7 17340843 17340843 single base substitution G T intron_variant OV-AU 7 17343640 17343640 single base substitution C A intron_variant OV-AU 7 17343718 17343718 single base substitution C A intron_variant OV-AU 7 17346883 17346883 single base substitution A G intron_variant OV-AU 7 17349115 17349115 single base substitution G C intron_variant OV-AU 7 17356270 17356270 single base substitution G T intron_variant OV-AU 7 17358635 17358635 single base substitution G A intron_variant OV-AU 7 17359679 17359679 single base substitution A G intron_variant OV-AU 7 17369886 17369886 single base substitution G A intron_variant OV-AU 7 17369886 17369886 single base substitution G A upstream_gene_variant OV-AU 7 17379159 17379159 single base substitution T G downstream_gene_variant OV-AU 7 17379159 17379159 single base substitution T G exon_variant OV-AU 7 17379159 17379159 single base substitution T G synonymous_variant V570V 1710T>G OV-AU 7 17385086 17385086 single base substitution T A 3_prime_UTR_variant OV-AU 7 17388373 17388373 single base substitution C A downstream_gene_variant OV-AU 7 17389864 17389864 single base substitution G A downstream_gene_variant PACA-AU 7 17338321 17338321 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 7 17338509 17338509 single base substitution T A 5_prime_UTR_variant PACA-AU 7 17338898 17338898 single base substitution A G exon_variant PACA-AU 7 17338898 17338898 single base substitution A G missense_variant S4G 10A>G PACA-AU 7 17341538 17341538 single base substitution A C intron_variant PACA-AU 7 17342436 17342436 single base substitution T A intron_variant PACA-AU 7 17342691 17342691 single base substitution T G intron_variant PACA-AU 7 17346938 17346938 single base substitution C A intron_variant PACA-AU 7 17356743 17356743 single base substitution T G intron_variant PACA-AU 7 17361575 17361575 single base substitution T C intron_variant PACA-AU 7 17364869 17364869 single base substitution T G intron_variant PACA-AU 7 17364869 17364869 single base substitution T G upstream_gene_variant PACA-AU 7 17365793 17365793 insertion of <=200bp - A intron_variant PACA-AU 7 17365793 17365793 insertion of <=200bp - A upstream_gene_variant PACA-AU 7 17366260 17366260 single base substitution A G intron_variant PACA-AU 7 17366260 17366260 single base substitution A G upstream_gene_variant PACA-AU 7 17369420 17369420 single base substitution G T intron_variant PACA-AU 7 17369420 17369420 single base substitution G T upstream_gene_variant PACA-AU 7 17375040 17375055 deletion of <=200bp TACTAGAATTGTTTGG - downstream_gene_variant PACA-AU 7 17375040 17375055 deletion of <=200bp TACTAGAATTGTTTGG - intron_variant PACA-AU 7 17375040 17375055 deletion of <=200bp TACTAGAATTGTTTGG - upstream_gene_variant PACA-AU 7 17377846 17377846 single base substitution G A downstream_gene_variant PACA-AU 7 17377846 17377846 single base substitution G A intron_variant PACA-AU 7 17378151 17378151 single base substitution T A downstream_gene_variant PACA-AU 7 17378151 17378151 single base substitution T A intron_variant PACA-AU 7 17380137 17380137 single base substitution A G downstream_gene_variant PACA-AU 7 17380137 17380137 single base substitution A G intron_variant PACA-AU 7 17382883 17382883 single base substitution A G 3_prime_UTR_variant PACA-AU 7 17382883 17382883 single base substitution A G downstream_gene_variant PACA-AU 7 17388054 17388054 single base substitution G A downstream_gene_variant PACA-CA 7 17333610 17333610 insertion of <=200bp - TA upstream_gene_variant PACA-CA 7 17333623 17333628 deletion of <=200bp TGTGTG - upstream_gene_variant PACA-CA 7 17333624 17333624 single base substitution G A upstream_gene_variant PACA-CA 7 17333651 17333651 single base substitution C T upstream_gene_variant PACA-CA 7 17339114 17339114 single base substitution A G intron_variant PACA-CA 7 17342013 17342013 single base substitution T C intron_variant PACA-CA 7 17343073 17343073 single base substitution T G intron_variant PACA-CA 7 17343468 17343468 single base substitution G A intron_variant PACA-CA 7 17345771 17345786 deletion of <=200bp AAACAGGCTTTTCCTT - intron_variant PACA-CA 7 17346167 17346167 single base substitution G T intron_variant PACA-CA 7 17347715 17347715 insertion of <=200bp - T intron_variant PACA-CA 7 17348703 17348703 single base substitution A G intron_variant PACA-CA 7 17350061 17350061 single base substitution A G intron_variant PACA-CA 7 17351129 17351129 single base substitution C T intron_variant PACA-CA 7 17352786 17352786 single base substitution A T intron_variant PACA-CA 7 17357053 17357053 single base substitution C T intron_variant PACA-CA 7 17362872 17362872 single base substitution C T intron_variant PACA-CA 7 17363161 17363161 single base substitution A G intron_variant PACA-CA 7 17364002 17364002 single base substitution C T intron_variant PACA-CA 7 17371095 17371095 single base substitution G T intron_variant PACA-CA 7 17371095 17371095 single base substitution G T upstream_gene_variant PACA-CA 7 17373334 17373334 single base substitution A T intron_variant PACA-CA 7 17373334 17373334 single base substitution A T upstream_gene_variant PACA-CA 7 17373630 17373630 single base substitution C T downstream_gene_variant PACA-CA 7 17373630 17373630 single base substitution C T exon_variant PACA-CA 7 17373630 17373630 single base substitution C T missense_variant A267V 800C>T PACA-CA 7 17373630 17373630 single base substitution C T upstream_gene_variant PACA-CA 7 17376032 17376032 single base substitution A G downstream_gene_variant PACA-CA 7 17376032 17376032 single base substitution A G intron_variant PACA-CA 7 17376455 17376455 single base substitution T C downstream_gene_variant PACA-CA 7 17376455 17376455 single base substitution T C intron_variant PACA-CA 7 17378780 17378782 deletion of <=200bp CCA - disruptive_inframe_deletion ST444S PACA-CA 7 17378780 17378782 deletion of <=200bp CCA - downstream_gene_variant PACA-CA 7 17378780 17378782 deletion of <=200bp CCA - exon_variant PACA-CA 7 17381471 17381471 single base substitution T C downstream_gene_variant PACA-CA 7 17381471 17381471 single base substitution T C intron_variant PACA-CA 7 17384039 17384039 single base substitution T A 3_prime_UTR_variant PACA-CA 7 17384039 17384039 single base substitution T A downstream_gene_variant PACA-CA 7 17384039 17384039 single base substitution T A intron_variant PACA-CA 7 17384964 17384964 single base substitution T C 3_prime_UTR_variant PACA-CA 7 17384981 17384981 single base substitution T G 3_prime_UTR_variant PAEN-AU 7 17334327 17334327 single base substitution G T upstream_gene_variant PAEN-AU 7 17363892 17363892 single base substitution T C intron_variant PBCA-DE 7 17333624 17333624 single base substitution G A upstream_gene_variant PBCA-DE 7 17341791 17341791 single base substitution A G intron_variant PBCA-DE 7 17348294 17348294 single base substitution C A intron_variant PBCA-DE 7 17348325 17348326 deletion of <=200bp AC - intron_variant PBCA-DE 7 17348325 17348330 deletion of <=200bp ACACAC - intron_variant PBCA-DE 7 17355888 17355888 single base substitution T C intron_variant PBCA-DE 7 17361903 17361903 single base substitution C T intron_variant PBCA-DE 7 17367766 17367766 deletion of <=200bp T - intron_variant PBCA-DE 7 17367766 17367766 deletion of <=200bp T - upstream_gene_variant PBCA-DE 7 17369299 17369299 single base substitution G A intron_variant PBCA-DE 7 17369299 17369299 single base substitution G A upstream_gene_variant PBCA-DE 7 17371117 17371117 single base substitution A T intron_variant PBCA-DE 7 17371117 17371117 single base substitution A T upstream_gene_variant PBCA-DE 7 17381870 17381870 single base substitution C A downstream_gene_variant PBCA-DE 7 17381870 17381870 single base substitution C A intron_variant PBCA-DE 7 17387206 17387208 deletion of <=200bp AAG - downstream_gene_variant PRAD-CA 7 17335205 17335205 single base substitution A C upstream_gene_variant PRAD-CA 7 17345843 17345843 single base substitution A G intron_variant PRAD-CA 7 17350061 17350061 single base substitution A T intron_variant PRAD-CA 7 17368420 17368420 single base substitution T C intron_variant PRAD-CA 7 17368420 17368420 single base substitution T C upstream_gene_variant PRAD-UK 7 17349150 17349150 single base substitution G A intron_variant PRAD-UK 7 17357512 17357512 single base substitution C T intron_variant PRAD-UK 7 17362343 17362343 single base substitution G A intron_variant PRAD-UK 7 17363157 17363167 deletion of <=200bp AAAGATAGAAT - intron_variant PRAD-UK 7 17367126 17367126 single base substitution A G intron_variant PRAD-UK 7 17367126 17367126 single base substitution A G upstream_gene_variant PRAD-UK 7 17367817 17367817 single base substitution G A intron_variant PRAD-UK 7 17367817 17367817 single base substitution G A upstream_gene_variant PRAD-UK 7 17378438 17378438 single base substitution A C downstream_gene_variant PRAD-UK 7 17378438 17378438 single base substitution A C intron_variant PRAD-UK 7 17382293 17382296 deletion of <=200bp TCAC - downstream_gene_variant PRAD-UK 7 17382293 17382296 deletion of <=200bp TCAC - intron_variant PRAD-UK 7 17383355 17383355 single base substitution C T 3_prime_UTR_variant PRAD-UK 7 17383355 17383355 single base substitution C T downstream_gene_variant READ-US 7 17378649 17378649 single base substitution G A downstream_gene_variant READ-US 7 17378649 17378649 single base substitution G A exon_variant READ-US 7 17378649 17378649 single base substitution G A synonymous_variant T400T 1200G>A READ-US 7 17378782 17378782 single base substitution A G downstream_gene_variant READ-US 7 17378782 17378782 single base substitution A G exon_variant READ-US 7 17378782 17378782 single base substitution A G missense_variant T445A 1333A>G RECA-EU 7 17338517 17338517 single base substitution C A 5_prime_UTR_variant RECA-EU 7 17350846 17350846 single base substitution C A intron_variant RECA-EU 7 17378911 17378911 single base substitution G A downstream_gene_variant RECA-EU 7 17378911 17378911 single base substitution G A exon_variant RECA-EU 7 17378911 17378911 single base substitution G A missense_variant E488K 1462G>A RECA-EU 7 17388599 17388599 single base substitution T A downstream_gene_variant RECA-EU 7 17388655 17388655 single base substitution A C downstream_gene_variant SKCA-BR 7 17333628 17333628 insertion of <=200bp - GTGTATATATA upstream_gene_variant SKCA-BR 7 17338791 17338791 single base substitution A C 5_prime_UTR_variant SKCA-BR 7 17339301 17339301 single base substitution G A intron_variant SKCA-BR 7 17341796 17341796 single base substitution A G intron_variant SKCA-BR 7 17342764 17342764 single base substitution G C intron_variant SKCA-BR 7 17349913 17349913 single base substitution A G intron_variant SKCA-BR 7 17351919 17351919 single base substitution G A intron_variant SKCA-BR 7 17368859 17368859 single base substitution G A intron_variant SKCA-BR 7 17368859 17368859 single base substitution G A upstream_gene_variant SKCA-BR 7 17378709 17378709 single base substitution T C downstream_gene_variant SKCA-BR 7 17378709 17378709 single base substitution T C exon_variant SKCA-BR 7 17378709 17378709 single base substitution T C synonymous_variant F420F 1260T>C SKCA-BR 7 17380999 17380999 single base substitution C T downstream_gene_variant SKCA-BR 7 17380999 17380999 single base substitution C T intron_variant SKCA-BR 7 17386963 17386963 single base substitution C T downstream_gene_variant SKCA-BR 7 17387263 17387263 single base substitution C T downstream_gene_variant SKCM-US 7 17349574 17349574 single base substitution C T exon_variant SKCM-US 7 17349574 17349574 single base substitution C T missense_variant P27L 80C>T SKCM-US 7 17370472 17370472 single base substitution C G exon_variant SKCM-US 7 17370472 17370472 single base substitution C G missense_variant R223G 667C>G SKCM-US 7 17370472 17370472 single base substitution C G upstream_gene_variant SKCM-US 7 17373557 17373557 single base substitution T C exon_variant SKCM-US 7 17373557 17373557 single base substitution T C synonymous_variant L243L 727T>C SKCM-US 7 17373557 17373557 single base substitution T C upstream_gene_variant SKCM-US 7 17378725 17378725 single base substitution C T downstream_gene_variant SKCM-US 7 17378725 17378725 single base substitution C T exon_variant SKCM-US 7 17378725 17378725 single base substitution C T missense_variant P426S 1276C>T SKCM-US 7 17379639 17379639 single base substitution C T downstream_gene_variant SKCM-US 7 17379639 17379639 single base substitution C T exon_variant SKCM-US 7 17379639 17379639 single base substitution C T synonymous_variant P730P 2190C>T SKCM-US 7 17379647 17379647 single base substitution C T downstream_gene_variant SKCM-US 7 17379647 17379647 single base substitution C T exon_variant SKCM-US 7 17379647 17379647 single base substitution C T missense_variant S733F 2198C>T SKCM-US 7 17379741 17379741 single base substitution T G downstream_gene_variant SKCM-US 7 17379741 17379741 single base substitution T G exon_variant SKCM-US 7 17379741 17379741 single base substitution T G missense_variant C764W 2292T>G SKCM-US 7 17382555 17382555 single base substitution G A downstream_gene_variant SKCM-US 7 17382555 17382555 single base substitution G A exon_variant SKCM-US 7 17382555 17382555 single base substitution G A missense_variant G805E 2414G>A STAD-US 7 17373617 17373617 single base substitution T C downstream_gene_variant STAD-US 7 17373617 17373617 single base substitution T C exon_variant STAD-US 7 17373617 17373617 single base substitution T C synonymous_variant L263L 787T>C STAD-US 7 17373617 17373617 single base substitution T C upstream_gene_variant STAD-US 7 17374530 17374530 single base substitution T C downstream_gene_variant STAD-US 7 17374530 17374530 single base substitution T C exon_variant STAD-US 7 17374530 17374530 single base substitution T C missense_variant Y310H 928T>C STAD-US 7 17374530 17374530 single base substitution T C upstream_gene_variant STAD-US 7 17375352 17375352 single base substitution C T downstream_gene_variant STAD-US 7 17375352 17375352 single base substitution C T exon_variant STAD-US 7 17375352 17375352 single base substitution C T missense_variant R368C 1102C>T STAD-US 7 17378642 17378642 single base substitution G A downstream_gene_variant STAD-US 7 17378642 17378642 single base substitution G A exon_variant STAD-US 7 17378642 17378642 single base substitution G A missense_variant R398Q 1193G>A STAD-US 7 17379187 17379187 single base substitution G T downstream_gene_variant STAD-US 7 17379187 17379187 single base substitution G T exon_variant STAD-US 7 17379187 17379187 single base substitution G T stop_gained E580* 1738G>T STAD-US 7 17379566 17379566 single base substitution C T downstream_gene_variant STAD-US 7 17379566 17379566 single base substitution C T exon_variant STAD-US 7 17379566 17379566 single base substitution C T missense_variant P706L 2117C>T STAD-US 7 17379636 17379636 deletion of <=200bp C - downstream_gene_variant STAD-US 7 17379636 17379636 deletion of <=200bp C - exon_variant STAD-US 7 17379636 17379636 deletion of <=200bp C - frameshift_variant Y729 STAD-US 7 17379837 17379837 single base substitution G T downstream_gene_variant STAD-US 7 17379837 17379837 single base substitution G T exon_variant STAD-US 7 17379837 17379837 single base substitution G T missense_variant Q796H 2388G>T THCA-US 7 17370506 17370506 single base substitution T A exon_variant THCA-US 7 17370506 17370506 single base substitution T A missense_variant F234Y 701T>A THCA-US 7 17370506 17370506 single base substitution T A upstream_gene_variant UCEC-US 7 17349713 17349713 single base substitution C T exon_variant UCEC-US 7 17349713 17349713 single base substitution C T synonymous_variant S73S 219C>T UCEC-US 7 17362185 17362185 single base substitution A C exon_variant UCEC-US 7 17362185 17362185 single base substitution A C missense_variant N105T 314A>C UCEC-US 7 17367383 17367383 single base substitution G A missense_variant A121T 361G>A UCEC-US 7 17367383 17367383 single base substitution G A splice_region_variant UCEC-US 7 17367383 17367383 single base substitution G A upstream_gene_variant UCEC-US 7 17373564 17373564 single base substitution A G exon_variant UCEC-US 7 17373564 17373564 single base substitution A G missense_variant Y245C 734A>G UCEC-US 7 17373564 17373564 single base substitution A G upstream_gene_variant UCEC-US 7 17373696 17373696 single base substitution C T downstream_gene_variant UCEC-US 7 17373696 17373696 single base substitution C T exon_variant UCEC-US 7 17373696 17373696 single base substitution C T missense_variant T289I 866C>T UCEC-US 7 17373696 17373696 single base substitution C T upstream_gene_variant UCEC-US 7 17375410 17375410 single base substitution C T downstream_gene_variant UCEC-US 7 17375410 17375410 single base substitution C T exon_variant UCEC-US 7 17375410 17375410 single base substitution C T missense_variant T387I 1160C>T UCEC-US 7 17375410 17375410 single base substitution C T splice_region_variant UCEC-US 7 17378911 17378911 single base substitution G A downstream_gene_variant UCEC-US 7 17378911 17378911 single base substitution G A exon_variant UCEC-US 7 17378911 17378911 single base substitution G A missense_variant E488K 1462G>A UCEC-US 7 17378960 17378960 single base substitution G A downstream_gene_variant UCEC-US 7 17378960 17378960 single base substitution G A exon_variant UCEC-US 7 17378960 17378960 single base substitution G A missense_variant G504E 1511G>A UCEC-US 7 17379527 17379527 single base substitution C A downstream_gene_variant UCEC-US 7 17379527 17379527 single base substitution C A exon_variant UCEC-US 7 17379527 17379527 single base substitution C A missense_variant S693Y 2078C>A UCEC-US 7 17379548 17379548 single base substitution T G downstream_gene_variant UCEC-US 7 17379548 17379548 single base substitution T G exon_variant UCEC-US 7 17379548 17379548 single base substitution T G missense_variant F700C 2099T>G UCEC-US 7 17379554 17379554 single base substitution C A downstream_gene_variant UCEC-US 7 17379554 17379554 single base substitution C A exon_variant UCEC-US 7 17379554 17379554 single base substitution C A missense_variant S702Y 2105C>A UCEC-US 7 17379759 17379759 single base substitution G A downstream_gene_variant UCEC-US 7 17379759 17379759 single base substitution G A exon_variant UCEC-US 7 17379759 17379759 single base substitution G A synonymous_variant S770S 2310G>A UCEC-US 7 17379836 17379836 single base substitution A C downstream_gene_variant UCEC-US 7 17379836 17379836 single base substitution A C exon_variant UCEC-US 7 17379836 17379836 single base substitution A C missense_variant Q796P 2387A>C UCEC-US 7 17382550 17382550 single base substitution G T downstream_gene_variant UCEC-US 7 17382550 17382550 single base substitution G T exon_variant UCEC-US 7 17382550 17382550 single base substitution G T missense_variant Q803H 2409G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand T3724 COSM4660612 c.1520C>T p.T507I Substitution - Missense 7:17339345-17339345 + TCGA-AA-3715-01 COSM268624 c.1379T>G p.M460R Substitution - Missense 7:17339204-17339204 + B70-Tumor COSM1755200 c.1395G>A p.E465E Substitution - coding silent 7:17339220-17339220 + TCGA-13-2059-01 COSM1329912 c.1335T>G p.T445T Substitution - coding silent 7:17339160-17339160 + sysucc-274T COSM5476752 c.2347G>A p.V783M Substitution - Missense 7:17340172-17340172 + TCGA-FU-A3HZ-01 COSM4840469 c.2373A>G p.V791V Substitution - coding silent 7:17340198-17340198 + DLD1 COSM1673038 c.1015C>T p.R339* Substitution - Nonsense 7:17334993-17334993 + TCGA-AA-3715-01 COSM268623 c.1176A>C p.T392T Substitution - coding silent 7:17339001-17339001 + CHC1065T COSM3306704 c.951G>A p.T317T Substitution - coding silent 7:17334929-17334929 + LY3 COSM1582031 c.1352_1353delTC p.L451fs*3 Deletion - Frameshift 7:17339177-17339178 + 585223 COSM318606 c.194A>G p.D65G Substitution - Missense 7:17310064-17310064 + TCGA-ET-A39K-01 COSM3374585 c.701T>A p.F234Y Substitution - Missense 7:17330882-17330882 + CSCC-29-T COSM4481525 c.2518C>T p.P840S Substitution - Missense 7:17343035-17343035 + 585208 COSM324683 c.940G>C p.E314Q Substitution - Missense 7:17334918-17334918 + TCGA-D7-8576-01 COSM3879947 c.2117C>T p.P706L Substitution - Missense 7:17339942-17339942 + ESCC_127 COSM5641559 c.2061C>A p.Y687* Substitution - Nonsense 7:17339886-17339886 + RMS77_ COSM4984853 c.1661G>A p.R554K Substitution - Missense 7:17339486-17339486 + TCGA-AA-3811-01 COSM5109825 c.1912C>T p.L638L Substitution - coding silent 7:17339737-17339737 + TCGA-CZ-4854-01 COSM3366873 c.1334C>T p.T445I Substitution - Missense 7:17339159-17339159 + PD12803a COSM3769998 c.989T>C p.M330T Substitution - Missense 7:17334967-17334967 + PTC-7C COSM4162068 c.1708G>A p.V570I Substitution - Missense 7:17339533-17339533 + TCGA-B5-A11E-01 COSM1088085 c.866C>T p.T289I Substitution - Missense 7:17334072-17334072 + ESO-913 COSM1244693 c.1748C>T p.T583M Substitution - Missense 7:17339573-17339573 + Au3 COSM5600994 c.183T>C p.I61I Substitution - coding silent 7:17310053-17310053 + CHC1743T COSM4805720 c.53C>T p.P18L Substitution - Missense 7:17299317-17299317 + TCGA-06-0876-01 COSM2152121 c.422C>A p.T141N Substitution - Missense 7:17327820-17327820 + Pat_41_B COSM5872388 c.2434C>T p.P812S Substitution - Missense 7:17342951-17342951 + TCGA-P4-A5E7-01 COSM600382 c.1149G>C p.Q383H Substitution - Missense 7:17335775-17335775 + TCGA-AA-A010-01 COSM278723 c.1505C>T p.P502L Substitution - Missense 7:17339330-17339330 + SC_9081 COSM1241978 c.1905G>A p.Q635Q Substitution - coding silent 7:17339730-17339730 + PD2219a COSM26606 c.2461A>T p.T821S Substitution - Missense 7:17342978-17342978 + TCGA-AP-A05A-01 COSM1088089 c.1734G>A p.T578T Substitution - coding silent 7:17339559-17339559 + ESCC_24 COSM5626501 c.131A>G p.N44S Substitution - Missense 7:17310001-17310001 + TCGA-EJ-7125-01 COSM3674890 c.1015C>A p.R339R Substitution - coding silent 7:17334993-17334993 + TCGA-A5-A0GH-01 COSM1088094 c.2387A>C p.Q796P Substitution - Missense 7:17340212-17340212 + CSCC-6-T COSM174478 c.1193G>A p.R398Q Substitution - Missense 7:17339018-17339018 + PT23_2 COSM5903624 c.1720G>A p.D574N Substitution - Missense 7:17339545-17339545 + ESCC-D13 COSM5045341 c.1474G>C p.E492Q Substitution - Missense 7:17339299-17339299 + B80 COSM1755201 c.1790C>G p.S597* Substitution - Nonsense 7:17339615-17339615 + ESO-717 COSM1241978 c.1905G>A p.Q635Q Substitution - coding silent 7:17339730-17339730 + TCGA-06-0876 COSM2152121 c.422C>A p.T141N Substitution - Missense 7:17327820-17327820 + TCGA-FR-A69P-06 COSM3636926 c.2190C>T p.P730P Substitution - coding silent 7:17340015-17340015 + TCGA-D9-A3Z1-06 COSM3636923 c.80C>T p.P27L Substitution - Missense 7:17309950-17309950 + ESCC_143 COSM5644414 c.1083T>C p.T361T Substitution - coding silent 7:17335709-17335709 + CSCC-31-T COSM4483643 c.271C>T p.P91S Substitution - Missense 7:17322518-17322518 + TCGA-MI-A75I-01 COSM4930256 c.2048A>G p.Q683R Substitution - Missense 7:17339873-17339873 + LUAD_E00623 COSM354577 c.2365A>C p.N789H Substitution - Missense 7:17340190-17340190 + TCGA-AZ-6599-01 COSM5141847 c.286G>A p.G96R Substitution - Missense 7:17322533-17322533 + TCGA-BS-A0UV-01 COSM1088088 c.1511G>A p.G504E Substitution - Missense 7:17339336-17339336 + TCGA-D1-A177-01 COSM1088083 c.513G>A p.Q171Q Substitution - coding silent 7:17330014-17330014 + NB-2074 COSM1283338 c.1384C>A p.Q462K Substitution - Missense 7:17339209-17339209 + ESCC_91 COSM5636957 c.1149G>T p.Q383H Substitution - Missense 7:17335775-17335775 + TCGA-AX-A05Z-01 COSM1088091 c.2099T>G p.F700C Substitution - Missense 7:17339924-17339924 + ESCC_12 COSM5624951 c.1260T>C p.F420F Substitution - coding silent 7:17339085-17339085 + RKO COSM3306746 c.2528C>A p.T843K Substitution - Missense 7:17343045-17343045 + TCGA-BR-4362-01 COSM3879945 c.928T>C p.Y310H Substitution - Missense 7:17334906-17334906 + TCGA-BR-8680-01 COSM174478 c.1193G>A p.R398Q Substitution - Missense 7:17339018-17339018 + CSCC-37-T COSM351582 c.318C>T p.F106F Substitution - coding silent 7:17322565-17322565 + C058 COSM5524566 c.769T>C p.S257P Substitution - Missense 7:17333975-17333975 + TCGA-AZ-4315-01 COSM1449763 c.657C>T p.C219C Substitution - coding silent 7:17330838-17330838 + T2269 COSM4660608 c.595A>C p.T199P Substitution - Missense 7:17330776-17330776 + 1002 COSM5730302 c.1430G>A p.S477N Substitution - Missense 7:17339255-17339255 + DN1401F COSM5961188 c.505G>A p.E169K Substitution - Missense 7:17330006-17330006 + pfg053T COSM4750493 c.149T>C p.L50S Substitution - Missense 7:17310019-17310019 + TCGA-AA-A010-01 COSM278722 c.219C>T p.S73S Substitution - coding silent 7:17310089-17310089 + ESO-866 COSM1244692 c.1225G>A p.G409R Substitution - Missense 7:17339050-17339050 + Pa07C COSM85028 c.1668G>T p.M556I Substitution - Missense 7:17339493-17339493 + TCGA-D1-A17Q-01 COSM1088095 c.2409G>T p.Q803H Substitution - Missense 7:17342926-17342926 + B70 COSM1755200 c.1395G>A p.E465E Substitution - coding silent 7:17339220-17339220 + TCGA-AA-3866-01 COSM296071 c.914G>A p.R305K Substitution - Missense 7:17334892-17334892 + B104-0-Tumor COSM4006676 c.861T>C p.F287F Substitution - coding silent 7:17334067-17334067 + TCGA-B2-5635-01 COSM485155 c.377T>C p.V126A Substitution - Missense 7:17327775-17327775 + RMS106_ COSM4984853 c.1661G>A p.R554K Substitution - Missense 7:17339486-17339486 + RH18C COSM4162068 c.1708G>A p.V570I Substitution - Missense 7:17339533-17339533 + TCGA-AA-3715-01 COSM5106607 c.1681delT p.F562fs*16 Deletion - Frameshift 7:17339506-17339506 + SW620 COSM3306736 c.2166G>A p.G722G Substitution - coding silent 7:17339991-17339991 + TCGA-AA-3502-01 COSM5098299 c.1110T>G p.L370L Substitution - coding silent 7:17335736-17335736 + LUAD-B02077 COSM335258 c.2184A>G p.P728P Substitution - coding silent 7:17340009-17340009 + Ly10 COSM1582031 c.1352_1353delTC p.L451fs*3 Deletion - Frameshift 7:17339177-17339178 + TCGA-EB-A1NK-01 COSM3636927 c.2198C>T p.S733F Substitution - Missense 7:17340023-17340023 + DLBCL794 COSM1580448 c.275C>A p.T92N Substitution - Missense 7:17322522-17322522 + RH18C COSM4984853 c.1661G>A p.R554K Substitution - Missense 7:17339486-17339486 + T3091 COSM3306713 c.1102C>T p.R368C Substitution - Missense 7:17335728-17335728 + TCGA-28-5219-01 COSM3411877 c.1199C>T p.T400M Substitution - Missense 7:17339024-17339024 + PT32 COSM5907437 c.2066C>T p.S689F Substitution - Missense 7:17339891-17339891 + LB831-BLC COSM22010 c.142G>A p.D48N Substitution - Missense 7:17310012-17310012 + TCGA-AP-A056-01 COSM1088084 c.734A>G p.Y245C Substitution - Missense 7:17333940-17333940 + ESCC_BICR_049T COSM5433347 c.2335C>T p.Q779* Substitution - Nonsense 7:17340160-17340160 + S02234 COSM5676283 c.2164G>T p.G722W Substitution - Missense 7:17339989-17339989 + LS411 COSM3306731 c.1936C>T p.Q646* Substitution - Nonsense 7:17339761-17339761 + TCGA-D1-A17Q-01 COSM1088093 c.2310G>A p.S770S Substitution - coding silent 7:17340135-17340135 + TCGA-HU-A4G8-01 COSM3306713 c.1102C>T p.R368C Substitution - Missense 7:17335728-17335728 + LUAD-YINHD COSM351582 c.318C>T p.F106F Substitution - coding silent 7:17322565-17322565 + KYSE-150 COSM3306723 c.1413T>C p.P471P Substitution - coding silent 7:17339238-17339238 + CH-54-T2 COSM5650993 c.1420A>G p.S474G Substitution - Missense 7:17339245-17339245 + LP6005334-DNA_A04 COSM4412178 c.1705G>A p.E569K Substitution - Missense 7:17339530-17339530 + LUAD-LIP77 COSM342572 c.959C>G p.S320* Substitution - Nonsense 7:17334937-17334937 + TCGA-AA-3811-01 COSM5109826 c.2250T>C p.H750H Substitution - coding silent 7:17340075-17340075 + PT09_2 COSM5894859 c.932C>T p.T311I Substitution - Missense 7:17334910-17334910 + CHC1545T COSM4787547 c.448C>A p.Q150K Substitution - Missense 7:17327846-17327846 + TCGA-BS-A0UF-01 COSM1088092 c.2105C>A p.S702Y Substitution - Missense 7:17339930-17339930 + RK152_C01 COSM3703192 c.750A>G p.K250K Substitution - coding silent 7:17333956-17333956 + TCGA-IZ-8196-01 COSM3995486 c.306A>T p.R102S Substitution - Missense 7:17322553-17322553 + TCGA-RC-A7SK-01 COSM4918585 c.2465A>C p.Q822P Substitution - Missense 7:17342982-17342982 + TCGA-BR-8680-01 COSM3879946 c.1738G>T p.E580* Substitution - Nonsense 7:17339563-17339563 + BD57T COSM1673038 c.1015C>T p.R339* Substitution - Nonsense 7:17334993-17334993 + TCGA-RC-A7SK-01 COSM4918597 c.2456A>C p.N819T Substitution - Missense 7:17342973-17342973 + B80-Tumor COSM1755201 c.1790C>G p.S597* Substitution - Nonsense 7:17339615-17339615 + DLBCL891 COSM1580450 c.1489C>G p.Q497E Substitution - Missense 7:17339314-17339314 + Esp66 COSM600382 c.1149G>C p.Q383H Substitution - Missense 7:17335775-17335775 + TCGA-AZ-6601-01 COSM1449762 c.220G>A p.V74I Substitution - Missense 7:17310090-17310090 + CHC1743T COSM4805720 c.53C>T p.P18L Substitution - Missense 7:17299317-17299317 + TCGA-D5-6540-01 COSM1449764 c.1473T>A p.N491K Substitution - Missense 7:17339298-17339298 + TCGA-F5-6814-01 COSM3750016 c.1333A>G p.T445A Substitution - Missense 7:17339158-17339158 + 95 COSM5016173 c.74_75insA p.I26fs*4 Insertion - Frameshift 7:17309944-17309945 + TCGA-D1-A103-01 COSM1088086 c.1160C>T p.T387I Substitution - Missense 7:17335786-17335786 + LP6007438-DNA_A01 COSM4408078 c.1843G>T p.E615* Substitution - Nonsense 7:17339668-17339668 + TCGA-GD-A3OP-01 COSM1312932 c.2464C>T p.Q822* Substitution - Nonsense 7:17342981-17342981 + RK042_C01 COSM1635222 c.574+4A>C p.? Unknown 7:17330079-17330079 + TCGA-B2-5641-01 COSM485156 c.417T>C p.S139S Substitution - coding silent 7:17327815-17327815 + YUDEXA COSM1698378 c.1939G>A p.V647I Substitution - Missense 7:17339764-17339764 + RMS112_ COSM4984853 c.1661G>A p.R554K Substitution - Missense 7:17339486-17339486 + TCGA-AM-5821-01 COSM3762551 c.132T>C p.N44N Substitution - coding silent 7:17310002-17310002 + CHC1545T COSM4787547 c.448C>A p.Q150K Substitution - Missense 7:17327846-17327846 + T3111 COSM4660610 c.850A>C p.N284H Substitution - Missense 7:17334056-17334056 + TCGA-41-2572-01 COSM3306710 c.1055G>A p.R352Q Substitution - Missense 7:17335681-17335681 + CHC1065T COSM3306704 c.951G>A p.T317T Substitution - coding silent 7:17334929-17334929 + STC246 COSM5062352 c.2270C>T p.A757V Substitution - Missense 7:17340095-17340095 + YUWIA COSM5407129 c.575-1G>A p.? Unknown 7:17330755-17330755 + HDC87 COSM4637175 c.842G>T p.R281L Substitution - Missense 7:17334048-17334048 + MD-289 COSM301653 c.730A>T p.K244* Substitution - Nonsense 7:17333936-17333936 + 461 COSM485157 c.2499G>A p.P833P Substitution - coding silent 7:17343016-17343016 + TCGA-DK-A3IU-01 COSM3778304 c.2466G>C p.Q822H Substitution - Missense 7:17342983-17342983 + TCGA-24-1845-01 COSM1329913 c.110A>C p.K37T Substitution - Missense 7:17309980-17309980 + TCGA-DK-A3X1-01 COSM3778302 c.817C>A p.Q273K Substitution - Missense 7:17334023-17334023 + 9087_T COSM5041401 c.1855C>G p.L619V Substitution - Missense 7:17339680-17339680 + TCGA-BP-4170-01 COSM3366874 c.2540T>A p.F847Y Substitution - Missense 7:17343057-17343057 + RMS66_ COSM4984853 c.1661G>A p.R554K Substitution - Missense 7:17339486-17339486 + TCGA-EI-6917-01 COSM3431449 c.1200G>A p.T400T Substitution - coding silent 7:17339025-17339025 + TCGA-B5-A0JY-01 COSM1088081 c.314A>C p.N105T Substitution - Missense 7:17322561-17322561 + RK086_C01 COSM1635223 c.1452C>G p.N484K Substitution - Missense 7:17339277-17339277 + CSCC-44-T COSM3306691 c.145C>T p.R49C Substitution - Missense 7:17310015-17310015 + TCGA-D9-A1JW-06 COSM3306738 c.2292T>G p.C764W Substitution - Missense 7:17340117-17340117 + TCGA-FJ-A3ZE-01 COSM3778303 c.1991G>T p.C664F Substitution - Missense 7:17339816-17339816 + TCGA-19-5959-01 COSM3411878 c.2369C>T p.P790L Substitution - Missense 7:17340194-17340194 + TCGA-DK-A1AB-01 COSM421512 c.1462G>T p.E488* Substitution - Nonsense 7:17339287-17339287 + TCGA-HT-7881-01 COSM3928951 c.1690A>T p.N564Y Substitution - Missense 7:17339515-17339515 + RK042_C COSM1635222 c.574+4A>C p.? Unknown 7:17330079-17330079 + DLBCL833 COSM1580449 c.1427C>G p.S476* Substitution - Nonsense 7:17339252-17339252 + TCGA-EE-A29E-06 COSM3306719 c.1276C>T p.P426S Substitution - Missense 7:17339101-17339101 + sysucc-311T COSM3431449 c.1200G>A p.T400T Substitution - coding silent 7:17339025-17339025 + HCT15 COSM1673038 c.1015C>T p.R339* Substitution - Nonsense 7:17334993-17334993 + TCGA-A8-A06X-01 COSM452810 c.119G>C p.R40T Substitution - Missense 7:17309989-17309989 + 8016470 COSM3394648 c.10A>G p.S4G Substitution - Missense 7:17299274-17299274 + 23_tFL COSM4171653 c.2526delG p.T843fs*>6 Deletion - Frameshift 7:17343043-17343043 + AOCS-139-1-5 COSM4164246 c.1710T>G p.V570V Substitution - coding silent 7:17339535-17339535 + TCGA-37-3789-01 COSM745660 c.1167G>T p.E389D Substitution - Missense 7:17338992-17338992 + Pat_06_A COSM5872387 c.784C>A p.Q262K Substitution - Missense 7:17333990-17333990 + T3202 COSM4660609 c.779C>T p.P260L Substitution - Missense 7:17333985-17333985 + T2950 COSM4660607 c.360G>T p.Q120H Substitution - Missense 7:17322607-17322607 + CSCC-44-T COSM4571224 c.409T>C p.Y137H Substitution - Missense 7:17327807-17327807 + PT09_1 COSM5894859 c.932C>T p.T311I Substitution - Missense 7:17334910-17334910 + NB-0495 COSM1283340 c.2526G>T p.L842F Substitution - Missense 7:17343043-17343043 + TCGA-D1-A16X-01 COSM1088090 c.2078C>A p.S693Y Substitution - Missense 7:17339903-17339903 + P160 COSM1737745 c.2222G>T p.C741F Substitution - Missense 7:17340047-17340047 + TCGA-G4-6320-01 COSM5177184 c.1646_1649delATTT p.D549fs*28 Deletion - Frameshift 7:17339471-17339474 + T2974 COSM4660611 c.1514A>G p.N505S Substitution - Missense 7:17339339-17339339 + HCT-15 COSM1673038 c.1015C>T p.R339* Substitution - Nonsense 7:17334993-17334993 + CHC2206T COSM4956945 c.681G>T p.L227L Substitution - coding silent 7:17330862-17330862 + TCGA-G4-6304-01 COSM1449760 c.128T>C p.L43P Substitution - Missense 7:17309998-17309998 + TCGA-A5-A0VP-01 COSM1088082 c.361G>A p.A121T Substitution - Missense 7:17327759-17327759 + C0014T COSM1088087 c.1462G>A p.E488K Substitution - Missense 7:17339287-17339287 + TCGA-AP-A051-01 COSM278722 c.219C>T p.S73S Substitution - coding silent 7:17310089-17310089 + TCGA-RC-A7SK-01 COSM4918603 c.2470A>G p.T824A Substitution - Missense 7:17342987-17342987 + TCGA-AX-A05Z-01 COSM1088087 c.1462G>A p.E488K Substitution - Missense 7:17339287-17339287 + CHC2206T COSM4956945 c.681G>T p.L227L Substitution - coding silent 7:17330862-17330862 + TCGA-ER-A19F-06 COSM3636928 c.2414G>A p.G805E Substitution - Missense 7:17342931-17342931 + HCC2998 COSM3306743 c.2449A>C p.N817H Substitution - Missense 7:17342966-17342966 + PCSI_0081_Pa_P_526 COSM4963174 c.800C>T p.A267V Substitution - Missense 7:17334006-17334006 + LUAD-F00057 COSM391621 c.2490_2492delTCA p.H832delH Deletion - In frame 7:17343007-17343009 + 587342 COSM1182305 c.1042A>G p.M348V Substitution - Missense 7:17335668-17335668 + TARGET-30-PASYPX COSM1283339 c.1600A>T p.S534C Substitution - Missense 7:17339425-17339425 + TCGA-HU-A4H4-01 COSM3879944 c.787T>C p.L263L Substitution - coding silent 7:17333993-17333993 + TCGA-B0-4852-01 COSM485157 c.2499G>A p.P833P Substitution - coding silent 7:17343016-17343016 + B74 COSM1745504 c.2081_2082insTAG p.M694>IR Complex - insertion inframe 7:17339906-17339907 + TCGA-C4-A0F0-01 COSM421513 c.1310G>T p.G437V Substitution - Missense 7:17339135-17339135 + Pat_76_B COSM5872386 c.253+1G>A p.? Unknown 7:17310124-17310124 + KM12 COSM3306717 c.1147C>T p.Q383* Substitution - Nonsense 7:17335773-17335773 + T578 COSM174478 c.1193G>A p.R398Q Substitution - Missense 7:17339018-17339018 + PT23_2 COSM5903625 c.361-7C>T p.? Unknown 7:17327752-17327752 + ESO-165 COSM1244691 c.1645G>C p.D549H Substitution - Missense 7:17339470-17339470 + 234 COSM3731405 c.587_588insC p.Q198fs*7 Insertion - Frameshift 7:17330768-17330769 + TCGA-61-2104-01 COSM116178 c.2047C>G p.Q683E Substitution - Missense 7:17339872-17339872 + PD4203a COSM158978 c.1418C>G p.S473* Substitution - Nonsense 7:17339243-17339243 + TCGA-C8-A26Y-01 COSM3832445 c.1516G>A p.D506N Substitution - Missense 7:17339341-17339341 + TCGA-BR-4368-01 COSM3879948 c.2388G>T p.Q796H Substitution - Missense 7:17340213-17340213 + SC_9103 COSM5571857 c.2305G>A p.V769M Substitution - Missense 7:17340130-17340130 + 587338 COSM1182304 c.1978G>A p.V660M Substitution - Missense 7:17339803-17339803 + TCGA-FS-A1ZM-06 COSM3636925 c.727T>C p.L243L Substitution - coding silent 7:17333933-17333933 + PTC-7C COSM4162067 c.1468A>G p.M490V Substitution - Missense 7:17339293-17339293 + TCGA-FS-A4FC-06 COSM3636924 c.667C>G p.R223G Substitution - Missense 7:17330848-17330848 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.171186;Hs.171189 7p15 600253

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.Q796P c.2387A>C 7 17379836 UCEC A C Missense p.T715P c.2143A>C 7 17379592 CM A G Missense p.D65G c.194A>G 7 17349688 SCLC A G Synonymous p.L807L c.2421A>G 7 17382562 LUAD A T Missense p.E835D c.2505A>T 7 17382646 HNSC A T Missense p.S534C c.1600A>T 7 17379049 NB C A Missense p.Q462K c.1384C>A 7 17378833 NB C A Missense p.T141N c.422C>A 7 17367444 GBM CC TT Missense p.P761F c.2281_2282delinsTT 7 17379730 CM - C Frameshift p.Q667Pfs*7 c.1999dupC 7 17379448 RCCC C G Missense p.F594L c.1782C>G 7 17379231 HNSC C G Missense p.N484K c.1452C>G 7 17378901 HC C G Missense p.Q683E c.2047C>G 7 17379496 OV C G Nonsense p.S473* c.1418C>G 7 17378867 BRCA C T Missense p.P686S c.2056C>T 7 17379505 CM C T Missense p.P790L c.2369C>T 7 17379818 GBM C T Missense p.S466F c.1397C>T 7 17378846 CM C T Missense p.S733F c.2198C>T 7 17379647 CM C T Missense p.T400M c.1199C>T 7 17378648 GBM C T Missense p.T445I c.1334C>T 7 17378783 RCCC C T Missense p.T583M c.1748C>T 7 17379197 ESCA C T Nonsense p.Q462* c.1384C>T 7 17378833 LUAD C T Nonsense p.Q822* c.2464C>T 7 17382605 BLCA G A IntronicSNV . c.253+569G>A 7 17350316 CLL G A IntronicSNV . c.360+42G>A 7 17362273 PIA G A Missense p.A121T c.361G>A 7 17367383 UCEC G A Missense p.D329N c.985G>A 7 17374587 LUAD G A Missense p.E389K c.1165G>A 7 17378614 LUAD G A Missense p.G409R c.1225G>A 7 17378674 ESCA G A Missense p.G805E c.2414G>A 7 17382555 CM G A Missense p.R305K c.914G>A 7 17374516 COREAD G A Missense p.R305K c.914G>A 7 17374516 LUAD G A Missense p.R352Q c.1055G>A 7 17375305 GBM G A Missense p.R384K c.1151G>A 7 17375401 LUAD G C Missense p.D549H c.1645G>C 7 17379094 ESCA G C Missense p.E314Q c.940G>C 7 17374542 SCLC G C Missense p.Q383H c.1149G>C 7 17375399 LUAD G C Missense p.Q755H c.2265G>C 7 17379714 LUAD G C Missense p.Q822H c.2466G>C 7 17382607 BLCA G C Missense p.R40T c.119G>C 7 17349613 BRCA G C Missense p.R40T c.119G>C 7 17349613 HNSC G T Missense p.E389D c.1167G>T 7 17378616 LUSC G T Missense p.G437V c.1310G>T 7 17378759 BLCA G T Missense p.L842F c.2526G>T 7 17382667 NB G T Missense p.M556I c.1668G>T 7 17379117 PAAD G T Missense p.Q796H c.2388G>T 7 17379837 STAD G T Nonsense p.E488* c.1462G>T 7 17378911 BLCA G T Synonymous p.V660V c.1980G>T 7 17379429 CM T A IntronicSNV . c.65+708T>A 7 17339661 CLL T A Missense p.D132E c.396T>A 7 17367418 CLL T A Missense p.F234Y c.701T>A 7 17370506 THCA T A Missense p.F847Y c.2540T>A 7 17382681 RCCC T A Missense p.I154K c.461T>A 7 17369586 CM T C Synonymous p.L243L c.727T>C 7 17373557 CM T G Missense p.C764W c.2292T>G 7 17379741 CM T - IntronicDeletion . c.66-24delT 7 17349531 ESCA TT - 3-UTRDeletion . c.2544+435_2544+436delGT 7 17383120 HC