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 27797661 27797661 + Silent SNP T T C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 g.chr7:27797661T>C c.174T>C c.(172-174)agT>agC p.S58S BLCA 7 27797748 27797748 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr7:27797748C>T c.261C>T c.(259-261)ttC>ttT p.F87F BLCA 7 27825064 27825064 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 g.chr7:27825064G>C c.808G>C c.(808-810)Gaa>Caa p.E270Q BLCA 7 27827055 27827055 + Missense_Mutation SNP G G A TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr7:27827055G>A c.871G>A c.(871-873)Gaa>Aaa p.E291K BLCA 7 27831685 27831685 + Missense_Mutation SNP C C T TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr7:27831685C>T c.1099C>T c.(1099-1101)Cgg>Tgg p.R367W BLCA 7 27831832 27831832 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr7:27831832G>A c.1246G>A c.(1246-1248)Gct>Act p.A416T BLCA 7 27834003 27834003 + Missense_Mutation SNP C C T TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr7:27834003C>T c.1472C>T c.(1471-1473)tCa>tTa p.S491L BLCA 7 27856053 27856053 + Nonsense_Mutation SNP C C G TCGA-UY-A9PE-01A-11D-A38G-08 TCGA-UY-A9PE-10A-01D-A38J-08 g.chr7:27856053C>G c.1850C>G c.(1849-1851)tCa>tGa p.S617* BLCA 7 27856100 27856100 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr7:27856100C>G c.1897C>G c.(1897-1899)Ctg>Gtg p.L633V BLCA 7 27868398 27868398 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr7:27868398G>C c.2320G>C c.(2320-2322)Gaa>Caa p.E774Q BRCA 7 27827107 27827107 + Missense_Mutation SNP A A T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr7:27827107A>T c.923A>T c.(922-924)gAt>gTt p.D308V BRCA 7 27831635 27831636 + Frame_Shift_Ins INS - - T TCGA-E9-A1NI-01A-11W-A16H-09 TCGA-E9-A1NI-10A-01D-A17G-09 g.chr7:27831635_27831636insT c.1049_1050insT c.(1048-1053)tgttttfs p.CF350fs BRCA 7 27833979 27833979 + Missense_Mutation SNP A A T TCGA-AR-A1AR-01A-31D-A135-09 TCGA-AR-A1AR-10A-01D-A135-09 g.chr7:27833979A>T c.1448A>T c.(1447-1449)aAt>aTt p.N483I BRCA 7 27839637 27839637 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 g.chr7:27839637G>A c.1692G>A c.(1690-1692)ctG>ctA p.L564L BRCA 7 27856569 27856569 + Missense_Mutation SNP C C G TCGA-BH-A0BP-01A-11D-A10Y-09 TCGA-BH-A0BP-10A-01D-A110-09 g.chr7:27856569C>G c.1997C>G c.(1996-1998)tCt>tGt p.S666C COAD 7 27805543 27805543 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:27805543A>G c.356A>G c.(355-357)cAg>cGg p.Q119R COAD 7 27809306 27809307 + Frame_Shift_Ins INS - - A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr7:27809306_27809307insA c.465_466insA c.(466-468)aaafs p.K156fs COAD 7 27809323 27809325 + In_Frame_Del DEL AAG AAG - TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr7:27809323_27809325delAAG c.482_484delAAG c.(481-486)aaagaa>aaa p.E163del COAD 7 27809349 27809349 + Missense_Mutation SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr7:27809349G>A c.508G>A c.(508-510)Gtt>Att p.V170I COAD 7 27824863 27824863 + Missense_Mutation SNP C C A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr7:27824863C>A c.694C>A c.(694-696)Cat>Aat p.H232N COAD 7 27824919 27824919 + Silent SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr7:27824919C>T c.750C>T c.(748-750)acC>acT p.T250T COAD 7 27831636 27831636 + Frame_Shift_Del DEL T T - TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr7:27831636delT c.1050delT c.(1048-1050)tgtfs p.C350fs COAD 7 27831685 27831685 + Missense_Mutation SNP C C T TCGA-AY-4071-01A-01W-1073-09 TCGA-AY-4071-10A-01W-1073-09 g.chr7:27831685C>T c.1099C>T c.(1099-1101)Cgg>Tgg p.R367W COAD 7 27831732 27831732 + Silent SNP C C T TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr7:27831732C>T c.1146C>T c.(1144-1146)aaC>aaT p.N382N COAD 7 27831747 27831747 + Silent SNP G G A TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr7:27831747G>A c.1161G>A c.(1159-1161)acG>acA p.T387T COAD 7 27831847 27831847 + Missense_Mutation SNP C C A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr7:27831847C>A c.1261C>A c.(1261-1263)Cag>Aag p.Q421K COAD 7 27832742 27832742 + Missense_Mutation SNP C C A TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr7:27832742C>A c.1321C>A c.(1321-1323)Cgt>Agt p.R441S COAD 7 27832790 27832790 + Missense_Mutation SNP C C A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr7:27832790C>A c.1369C>A c.(1369-1371)Caa>Aaa p.Q457K COAD 7 27832790 27832790 + Nonsense_Mutation SNP C C T TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr7:27832790C>T c.1369C>T c.(1369-1371)Caa>Taa p.Q457* COAD 7 27832791 27832791 + Missense_Mutation SNP A A G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr7:27832791A>G c.1370A>G c.(1369-1371)cAa>cGa p.Q457R COAD 7 27832791 27832791 + Missense_Mutation SNP A A G TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr7:27832791A>G c.1370A>G c.(1369-1371)cAa>cGa p.Q457R COAD 7 27832792 27832792 + Silent SNP A A G TCGA-CA-5796-01A-01D-1650-10 TCGA-CA-5796-10A-01D-1650-10 g.chr7:27832792A>G c.1371A>G c.(1369-1371)caA>caG p.Q457Q COAD 7 27832792 27832792 + Silent SNP A A G TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr7:27832792A>G c.1371A>G c.(1369-1371)caA>caG p.Q457Q COAD 7 27839636 27839636 + Missense_Mutation SNP T T C TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr7:27839636T>C c.1691T>C c.(1690-1692)cTg>cCg p.L564P COAD 7 27856554 27856554 + Missense_Mutation SNP C C A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr7:27856554C>A c.1982C>A c.(1981-1983)cCt>cAt p.P661H COADREAD 7 27805543 27805543 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:27805543A>G c.356A>G c.(355-357)cAg>cGg p.Q119R COADREAD 7 27809306 27809307 + Frame_Shift_Ins INS - - A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr7:27809306_27809307insA c.465_466insA c.(466-468)aaafs p.K156fs COADREAD 7 27809319 27809319 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:27809319G>T c.478G>T c.(478-480)Gaa>Taa p.E160* COADREAD 7 27809323 27809325 + In_Frame_Del DEL AAG AAG - TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr7:27809323_27809325delAAG c.482_484delAAG c.(481-486)aaagaa>aaa p.E163del COADREAD 7 27809349 27809349 + Missense_Mutation SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr7:27809349G>A c.508G>A c.(508-510)Gtt>Att p.V170I COADREAD 7 27824863 27824863 + Missense_Mutation SNP C C A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr7:27824863C>A c.694C>A c.(694-696)Cat>Aat p.H232N COADREAD 7 27824919 27824919 + Silent SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr7:27824919C>T c.750C>T c.(748-750)acC>acT p.T250T COADREAD 7 27824920 27824920 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:27824920G>A c.751G>A c.(751-753)Gaa>Aaa p.E251K COADREAD 7 27831636 27831636 + Frame_Shift_Del DEL T T - TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr7:27831636delT c.1050delT c.(1048-1050)tgtfs p.C350fs COADREAD 7 27831685 27831685 + Missense_Mutation SNP C C T TCGA-AY-4071-01A-01W-1073-09 TCGA-AY-4071-10A-01W-1073-09 g.chr7:27831685C>T c.1099C>T c.(1099-1101)Cgg>Tgg p.R367W COADREAD 7 27831732 27831732 + Silent SNP C C T TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr7:27831732C>T c.1146C>T c.(1144-1146)aaC>aaT p.N382N COADREAD 7 27831747 27831747 + Silent SNP G G A TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr7:27831747G>A c.1161G>A c.(1159-1161)acG>acA p.T387T COADREAD 7 27831747 27831747 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:27831747G>A c.1161G>A c.(1159-1161)acG>acA p.T387T COADREAD 7 27831847 27831847 + Missense_Mutation SNP C C A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr7:27831847C>A c.1261C>A c.(1261-1263)Cag>Aag p.Q421K COADREAD 7 27832742 27832742 + Missense_Mutation SNP C C A TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr7:27832742C>A c.1321C>A c.(1321-1323)Cgt>Agt p.R441S COADREAD 7 27832790 27832790 + Missense_Mutation SNP C C A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr7:27832790C>A c.1369C>A c.(1369-1371)Caa>Aaa p.Q457K COADREAD 7 27832790 27832790 + Nonsense_Mutation SNP C C T TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr7:27832790C>T c.1369C>T c.(1369-1371)Caa>Taa p.Q457* COADREAD 7 27832791 27832791 + Missense_Mutation SNP A A G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr7:27832791A>G c.1370A>G c.(1369-1371)cAa>cGa p.Q457R COADREAD 7 27832791 27832791 + Missense_Mutation SNP A A G TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr7:27832791A>G c.1370A>G c.(1369-1371)cAa>cGa p.Q457R COADREAD 7 27832791 27832791 + Missense_Mutation SNP A A G TCGA-DC-5337-01A-01D-1657-10 TCGA-DC-5337-10A-01D-1657-10 g.chr7:27832791A>G c.1370A>G c.(1369-1371)cAa>cGa p.Q457R COADREAD 7 27832792 27832792 + Silent SNP A A G TCGA-CA-5796-01A-01D-1650-10 TCGA-CA-5796-10A-01D-1650-10 g.chr7:27832792A>G c.1371A>G c.(1369-1371)caA>caG p.Q457Q COADREAD 7 27832792 27832792 + Silent SNP A A G TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr7:27832792A>G c.1371A>G c.(1369-1371)caA>caG p.Q457Q COADREAD 7 27835788 27835788 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:27835788G>T c.1588G>T c.(1588-1590)Gaa>Taa p.E530* COADREAD 7 27839636 27839636 + Missense_Mutation SNP T T C TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr7:27839636T>C c.1691T>C c.(1690-1692)cTg>cCg p.L564P COADREAD 7 27856554 27856554 + Missense_Mutation SNP C C A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr7:27856554C>A c.1982C>A c.(1981-1983)cCt>cAt p.P661H COADREAD 7 27856611 27856611 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:27856611G>A c.2039G>A c.(2038-2040)cGa>cAa p.R680Q COADREAD 7 27868361 27868361 + Silent SNP C C T TCGA-AG-3574-01A-01W-0831-10 TCGA-AG-3574-10A-01W-0831-10 g.chr7:27868361C>T c.2283C>T c.(2281-2283)agC>agT p.S761S GBMLGG 7 27788186 27788186 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:27788186G>A c.43G>A c.(43-45)Gcc>Acc p.A15T GBMLGG 7 27831736 27831736 + Nonsense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:27831736C>T c.1150C>T c.(1150-1152)Cga>Tga p.R384* GBMLGG 7 27856589 27856589 + Missense_Mutation SNP G G A TCGA-TQ-A7RM-01A-11D-A33T-08 TCGA-TQ-A7RM-10A-01D-A33W-08 g.chr7:27856589G>A c.2017G>A c.(2017-2019)Gtt>Att p.V673I HNSC 7 27825078 27825078 + Missense_Mutation SNP G G C TCGA-D6-A6ES-01A-12D-A31L-08 TCGA-D6-A6ES-10A-01D-A31J-08 g.chr7:27825078G>C c.822G>C c.(820-822)aaG>aaC p.K274N HNSC 7 27831655 27831655 + Missense_Mutation SNP C C T TCGA-HD-7754-01A-11D-2078-08 TCGA-HD-7754-10A-01D-2078-08 g.chr7:27831655C>T c.1069C>T c.(1069-1071)Cgt>Tgt p.R357C HNSC 7 27856133 27856133 + Missense_Mutation SNP A A G TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 g.chr7:27856133A>G c.1930A>G c.(1930-1932)Aca>Gca p.T644A KICH 7 27839640 27839640 + Silent SNP A A G TCGA-KN-8436-01A-11D-2310-10 TCGA-KN-8436-11A-01D-2311-10 g.chr7:27839640A>G c.1695A>G c.(1693-1695)aaA>aaG p.K565K KIPAN 7 27788296 27788296 + Silent SNP T T G TCGA-DV-5569-01A-01D-1534-10 TCGA-DV-5569-10A-01D-1535-10 g.chr7:27788296T>G c.153T>G c.(151-153)ggT>ggG p.G51G KIPAN 7 27809433 27809433 + Missense_Mutation SNP C C A TCGA-Y8-A896-01A-11D-A35Z-10 TCGA-Y8-A896-10A-01D-A35Z-10 g.chr7:27809433C>A c.592C>A c.(592-594)Caa>Aaa p.Q198K KIPAN 7 27839640 27839640 + Silent SNP A A G TCGA-KN-8436-01A-11D-2310-10 TCGA-KN-8436-11A-01D-2311-10 g.chr7:27839640A>G c.1695A>G c.(1693-1695)aaA>aaG p.K565K KIPAN 7 27856058 27856059 + Frame_Shift_Ins INS - - A TCGA-CZ-5460-01A-01D-1501-10 TCGA-CZ-5460-11A-01D-1501-10 g.chr7:27856058_27856059insA c.1855_1856insA c.(1855-1857)caafs p.Q619fs KIPAN 7 27856087 27856087 + Silent SNP T T C TCGA-BQ-5885-01A-11D-1589-08 TCGA-BQ-5885-11A-01D-1589-08 g.chr7:27856087T>C c.1884T>C c.(1882-1884)aaT>aaC p.N628N KIPAN 7 27856559 27856559 + Nonsense_Mutation SNP A A T TCGA-B1-A47N-01A-11D-A25F-10 TCGA-B1-A47N-10A-01D-A25F-10 g.chr7:27856559A>T c.1987A>T c.(1987-1989)Aga>Tga p.R663* KIPAN 7 27868314 27868314 + Missense_Mutation SNP T T A TCGA-A3-3357-01A-02D-1421-08 TCGA-A3-3357-11A-01D-1421-08 g.chr7:27868314T>A c.2236T>A c.(2236-2238)Ttt>Att p.F746I KIRC 7 27788296 27788296 + Silent SNP T T G TCGA-DV-5569-01A-01D-1534-10 TCGA-DV-5569-10A-01D-1535-10 g.chr7:27788296T>G c.153T>G c.(151-153)ggT>ggG p.G51G KIRC 7 27856058 27856059 + Frame_Shift_Ins INS - - A TCGA-CZ-5460-01A-01D-1501-10 TCGA-CZ-5460-11A-01D-1501-10 g.chr7:27856058_27856059insA c.1855_1856insA c.(1855-1857)caafs p.Q619fs KIRC 7 27868314 27868314 + Missense_Mutation SNP T T A TCGA-A3-3357-01A-02D-1421-08 TCGA-A3-3357-11A-01D-1421-08 g.chr7:27868314T>A c.2236T>A c.(2236-2238)Ttt>Att p.F746I KIRP 7 27809433 27809433 + Missense_Mutation SNP C C A TCGA-Y8-A896-01A-11D-A35Z-10 TCGA-Y8-A896-10A-01D-A35Z-10 g.chr7:27809433C>A c.592C>A c.(592-594)Caa>Aaa p.Q198K KIRP 7 27856087 27856087 + Silent SNP T T C TCGA-BQ-5885-01A-11D-1589-08 TCGA-BQ-5885-11A-01D-1589-08 g.chr7:27856087T>C c.1884T>C c.(1882-1884)aaT>aaC p.N628N KIRP 7 27856559 27856559 + Nonsense_Mutation SNP A A T TCGA-B1-A47N-01A-11D-A25F-10 TCGA-B1-A47N-10A-01D-A25F-10 g.chr7:27856559A>T c.1987A>T c.(1987-1989)Aga>Tga p.R663* LGG 7 27788186 27788186 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:27788186G>A c.43G>A c.(43-45)Gcc>Acc p.A15T LGG 7 27831736 27831736 + Nonsense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:27831736C>T c.1150C>T c.(1150-1152)Cga>Tga p.R384* LGG 7 27856589 27856589 + Missense_Mutation SNP G G A TCGA-TQ-A7RM-01A-11D-A33T-08 TCGA-TQ-A7RM-10A-01D-A33W-08 g.chr7:27856589G>A c.2017G>A c.(2017-2019)Gtt>Att p.V673I LIHC 7 27827096 27827096 + Frame_Shift_Del DEL A A - TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr7:27827096delA c.912delA c.(910-912)ttafs p.L304fs LIHC 7 27832797 27832797 + Missense_Mutation SNP T T C TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr7:27832797T>C c.1376T>C c.(1375-1377)cTc>cCc p.L459P LIHC 7 27833956 27833956 + Silent SNP T T C TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr7:27833956T>C c.1425T>C c.(1423-1425)aaT>aaC p.N475N LUAD 7 27809349 27809349 + Missense_Mutation SNP G G A TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr7:27809349G>A c.508G>A c.(508-510)Gtt>Att p.V170I LUAD 7 27827104 27827104 + Nonsense_Mutation SNP T T A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chr7:27827104T>A c.920T>A c.(919-921)tTa>tAa p.L307* LUAD 7 27827131 27827131 + Missense_Mutation SNP C C G TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr7:27827131C>G c.947C>G c.(946-948)aCt>aGt p.T316S LUAD 7 27827145 27827145 + Nonsense_Mutation SNP G G T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr7:27827145G>T c.961G>T c.(961-963)Gag>Tag p.E321* LUAD 7 27831727 27831727 + Missense_Mutation SNP G G C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 g.chr7:27831727G>C c.1141G>C c.(1141-1143)Gtc>Ctc p.V381L LUAD 7 27831774 27831774 + Silent SNP G G A TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr7:27831774G>A c.1188G>A c.(1186-1188)ttG>ttA p.L396L LUAD 7 27832703 27832703 + Nonsense_Mutation SNP G G T TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr7:27832703G>T c.1282G>T c.(1282-1284)Gaa>Taa p.E428* LUSC 7 27833973 27833973 + Missense_Mutation SNP C C T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 g.chr7:27833973C>T c.1442C>T c.(1441-1443)aCg>aTg p.T481M LUSC 7 27868362 27868362 + Nonsense_Mutation SNP G G T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr7:27868362G>T c.2284G>T c.(2284-2286)Gag>Tag p.E762* PAAD 7 27797740 27797740 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:27797740C>T c.253C>T c.(253-255)Cta>Tta p.L85L PAAD 7 27824902 27824902 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:27824902G>T c.733G>T c.(733-735)Gca>Tca p.A245S PAAD 7 27868361 27868361 + Silent SNP C C T TCGA-US-A776-01A-13D-A33T-08 TCGA-US-A776-11A-11D-A33W-08 g.chr7:27868361C>T c.2283C>T c.(2281-2283)agC>agT p.S761S PRAD 7 27797681 27797681 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr7:27797681C>T c.194C>T c.(193-195)aCg>aTg p.T65M PRAD 7 27827122 27827122 + Missense_Mutation SNP G G T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr7:27827122G>T c.938G>T c.(937-939)aGc>aTc p.S313I PRAD 7 27831673 27831673 + Missense_Mutation SNP G G C TCGA-V1-A9OH-01A-11D-A41K-08 TCGA-V1-A9OH-10A-01D-A41N-08 g.chr7:27831673G>C c.1087G>C c.(1087-1089)Gtt>Ctt p.V363L READ 7 27809319 27809319 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:27809319G>T c.478G>T c.(478-480)Gaa>Taa p.E160* READ 7 27824920 27824920 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:27824920G>A c.751G>A c.(751-753)Gaa>Aaa p.E251K READ 7 27831747 27831747 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:27831747G>A c.1161G>A c.(1159-1161)acG>acA p.T387T READ 7 27832791 27832791 + Missense_Mutation SNP A A G TCGA-DC-5337-01A-01D-1657-10 TCGA-DC-5337-10A-01D-1657-10 g.chr7:27832791A>G c.1370A>G c.(1369-1371)cAa>cGa p.Q457R READ 7 27835788 27835788 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:27835788G>T c.1588G>T c.(1588-1590)Gaa>Taa p.E530* READ 7 27856611 27856611 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:27856611G>A c.2039G>A c.(2038-2040)cGa>cAa p.R680Q READ 7 27868361 27868361 + Silent SNP C C T TCGA-AG-3574-01A-01W-0831-10 TCGA-AG-3574-10A-01W-0831-10 g.chr7:27868361C>T c.2283C>T c.(2281-2283)agC>agT p.S761S SKCM 7 27788253 27788253 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:27788253C>T c.110C>T c.(109-111)aCc>aTc p.T37I SKCM 7 27831771 27831771 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 g.chr7:27831771C>T c.1185C>T c.(1183-1185)cgC>cgT p.R395R SKCM 7 27835784 27835784 + Silent SNP C C A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr7:27835784C>A c.1584C>A c.(1582-1584)acC>acA p.T528T SKCM 7 27868343 27868343 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr7:27868343G>A c.2265G>A c.(2263-2265)aaG>aaA p.K755K SKCM 7 27868344 27868344 + Missense_Mutation SNP G G C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr7:27868344G>C c.2266G>C c.(2266-2268)Gtg>Ctg p.V756L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 7 27797748 27797748 single base substitution C T 5_prime_UTR_variant BLCA-US 7 27797748 27797748 single base substitution C T exon_variant BLCA-US 7 27797748 27797748 single base substitution C T synonymous_variant F87F 261C>T BLCA-US 7 27825064 27825064 single base substitution G C 3_prime_UTR_variant BLCA-US 7 27825064 27825064 single base substitution G C missense_variant E113Q 337G>C BLCA-US 7 27825064 27825064 single base substitution G C missense_variant E270Q 808G>C BLCA-US 7 27831832 27831832 single base substitution G A 3_prime_UTR_variant BLCA-US 7 27831832 27831832 single base substitution G A missense_variant A259T 775G>A BLCA-US 7 27831832 27831832 single base substitution G A missense_variant A416T 1246G>A BLCA-US 7 27831832 27831832 single base substitution G A upstream_gene_variant BLCA-US 7 27856100 27856100 single base substitution C G intron_variant BLCA-US 7 27856100 27856100 single base substitution C G missense_variant L633V 1897C>G BLCA-US 7 27856100 27856100 single base substitution C G missense_variant L657V 1969C>G BOCA-FR 7 27810555 27810555 single base substitution G T downstream_gene_variant BOCA-FR 7 27810555 27810555 single base substitution G T intron_variant BOCA-FR 7 27872294 27872294 single base substitution T A downstream_gene_variant BOCA-FR 7 27872294 27872294 single base substitution T A intron_variant BRCA-EU 7 27773950 27773950 single base substitution A G upstream_gene_variant BRCA-EU 7 27774209 27774209 single base substitution C G upstream_gene_variant BRCA-EU 7 27774980 27774980 single base substitution G T upstream_gene_variant BRCA-EU 7 27776172 27776172 single base substitution A G upstream_gene_variant BRCA-EU 7 27776762 27776762 single base substitution T C upstream_gene_variant BRCA-EU 7 27776828 27776828 deletion of <=200bp C - upstream_gene_variant BRCA-EU 7 27782187 27782187 single base substitution A C intron_variant BRCA-EU 7 27782660 27782660 single base substitution T A intron_variant BRCA-EU 7 27782871 27782871 single base substitution C G intron_variant BRCA-EU 7 27783776 27783776 single base substitution C T intron_variant BRCA-EU 7 27785297 27785297 single base substitution C G intron_variant BRCA-EU 7 27789379 27789379 single base substitution A G intron_variant BRCA-EU 7 27790176 27790176 single base substitution G A intron_variant BRCA-EU 7 27791089 27791089 single base substitution A G intron_variant BRCA-EU 7 27791167 27791167 single base substitution C G intron_variant BRCA-EU 7 27791769 27791769 single base substitution C G intron_variant BRCA-EU 7 27792740 27792740 single base substitution G A intron_variant BRCA-EU 7 27793397 27793397 single base substitution G C intron_variant BRCA-EU 7 27793983 27793983 deletion of <=200bp A - intron_variant BRCA-EU 7 27796665 27796665 single base substitution T G intron_variant BRCA-EU 7 27798639 27798639 single base substitution C T downstream_gene_variant BRCA-EU 7 27798639 27798639 single base substitution C T intron_variant BRCA-EU 7 27798886 27798886 single base substitution T C downstream_gene_variant BRCA-EU 7 27798886 27798886 single base substitution T C intron_variant BRCA-EU 7 27800604 27800604 single base substitution A G downstream_gene_variant BRCA-EU 7 27800604 27800604 single base substitution A G intron_variant BRCA-EU 7 27800685 27800685 insertion of <=200bp - T downstream_gene_variant BRCA-EU 7 27800685 27800685 insertion of <=200bp - T intron_variant BRCA-EU 7 27802323 27802323 single base substitution T C downstream_gene_variant BRCA-EU 7 27802323 27802323 single base substitution T C intron_variant BRCA-EU 7 27803737 27803737 single base substitution G C intron_variant BRCA-EU 7 27804268 27804268 single base substitution C T intron_variant BRCA-EU 7 27805787 27805787 single base substitution C T downstream_gene_variant BRCA-EU 7 27805787 27805787 single base substitution C T intron_variant BRCA-EU 7 27805787 27805787 single base substitution C T upstream_gene_variant BRCA-EU 7 27807661 27807661 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 27807661 27807661 deletion of <=200bp A - intron_variant BRCA-EU 7 27807661 27807661 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 27808909 27808909 single base substitution T C downstream_gene_variant BRCA-EU 7 27808909 27808909 single base substitution T C intron_variant BRCA-EU 7 27808909 27808909 single base substitution T C upstream_gene_variant BRCA-EU 7 27809319 27809319 single base substitution G C 3_prime_UTR_variant BRCA-EU 7 27809319 27809319 single base substitution G C downstream_gene_variant BRCA-EU 7 27809319 27809319 single base substitution G C exon_variant BRCA-EU 7 27809319 27809319 single base substitution G C missense_variant E160Q 478G>C BRCA-EU 7 27809319 27809319 single base substitution G C missense_variant E3Q 7G>C BRCA-EU 7 27810004 27810004 single base substitution A T downstream_gene_variant BRCA-EU 7 27810004 27810004 single base substitution A T intron_variant BRCA-EU 7 27811622 27811622 single base substitution C T exon_variant BRCA-EU 7 27811622 27811622 single base substitution C T intron_variant BRCA-EU 7 27813106 27813106 single base substitution A G downstream_gene_variant BRCA-EU 7 27813106 27813106 single base substitution A G intron_variant BRCA-EU 7 27813556 27813556 single base substitution T C downstream_gene_variant BRCA-EU 7 27813556 27813556 single base substitution T C intron_variant BRCA-EU 7 27814280 27814280 single base substitution C G downstream_gene_variant BRCA-EU 7 27814280 27814280 single base substitution C G intron_variant BRCA-EU 7 27814688 27814688 single base substitution C T downstream_gene_variant BRCA-EU 7 27814688 27814688 single base substitution C T intron_variant BRCA-EU 7 27814986 27814986 single base substitution T C downstream_gene_variant BRCA-EU 7 27814986 27814986 single base substitution T C intron_variant BRCA-EU 7 27817412 27817412 single base substitution A G intron_variant BRCA-EU 7 27818924 27818924 single base substitution G C intron_variant BRCA-EU 7 27818931 27818931 single base substitution G C intron_variant BRCA-EU 7 27820462 27820462 deletion of <=200bp T - intron_variant BRCA-EU 7 27820658 27820658 deletion of <=200bp A - intron_variant BRCA-EU 7 27820735 27820735 single base substitution C G intron_variant BRCA-EU 7 27822726 27822726 deletion of <=200bp C - intron_variant BRCA-EU 7 27823016 27823016 single base substitution C T intron_variant BRCA-EU 7 27824310 27824310 single base substitution G C intron_variant BRCA-EU 7 27828317 27828317 single base substitution C T intron_variant BRCA-EU 7 27828317 27828317 single base substitution C T upstream_gene_variant BRCA-EU 7 27828759 27828759 single base substitution G A intron_variant BRCA-EU 7 27828759 27828759 single base substitution G A upstream_gene_variant BRCA-EU 7 27829353 27829353 single base substitution G T intron_variant BRCA-EU 7 27829353 27829353 single base substitution G T upstream_gene_variant BRCA-EU 7 27832412 27832412 single base substitution C G intron_variant BRCA-EU 7 27832412 27832412 single base substitution C G upstream_gene_variant BRCA-EU 7 27833377 27833377 single base substitution C A intron_variant BRCA-EU 7 27834117 27834117 single base substitution T G intron_variant BRCA-EU 7 27834595 27834595 single base substitution T C intron_variant BRCA-EU 7 27834706 27834706 single base substitution C T intron_variant BRCA-EU 7 27834756 27834756 single base substitution G C intron_variant BRCA-EU 7 27835945 27835946 deletion of <=200bp AT - intron_variant BRCA-EU 7 27838352 27838352 single base substitution C A intron_variant BRCA-EU 7 27842481 27842481 deletion of <=200bp A - intron_variant BRCA-EU 7 27843672 27843672 single base substitution C A intron_variant BRCA-EU 7 27843994 27843994 single base substitution A G intron_variant BRCA-EU 7 27844393 27844393 single base substitution C T intron_variant BRCA-EU 7 27846610 27846610 single base substitution A C intron_variant BRCA-EU 7 27848098 27848098 insertion of <=200bp - T intron_variant BRCA-EU 7 27849590 27849590 single base substitution G A intron_variant BRCA-EU 7 27849669 27849669 single base substitution G T intron_variant BRCA-EU 7 27851146 27851146 single base substitution C T intron_variant BRCA-EU 7 27851511 27851511 single base substitution C T intron_variant BRCA-EU 7 27851585 27851585 single base substitution G A intron_variant BRCA-EU 7 27851944 27851944 deletion of <=200bp T - intron_variant BRCA-EU 7 27851979 27851979 single base substitution C T intron_variant BRCA-EU 7 27852836 27852836 single base substitution G A intron_variant BRCA-EU 7 27853641 27853641 single base substitution A G intron_variant BRCA-EU 7 27853940 27853940 single base substitution A G intron_variant BRCA-EU 7 27854074 27854074 insertion of <=200bp - G intron_variant BRCA-EU 7 27855524 27855524 single base substitution G A intron_variant BRCA-EU 7 27855645 27855645 deletion of <=200bp A - intron_variant BRCA-EU 7 27855645 27855645 insertion of <=200bp - A intron_variant BRCA-EU 7 27857515 27857515 single base substitution T C intron_variant BRCA-EU 7 27859857 27859857 single base substitution C T intron_variant BRCA-EU 7 27859956 27859956 single base substitution A G intron_variant BRCA-EU 7 27861096 27861096 deletion of <=200bp A - intron_variant BRCA-EU 7 27861416 27861416 deletion of <=200bp A - intron_variant BRCA-EU 7 27862097 27862097 single base substitution G A intron_variant BRCA-EU 7 27862477 27862477 single base substitution C G intron_variant BRCA-EU 7 27862477 27862477 single base substitution C G upstream_gene_variant BRCA-EU 7 27862872 27862872 single base substitution T C intron_variant BRCA-EU 7 27862872 27862872 single base substitution T C upstream_gene_variant BRCA-EU 7 27863156 27863156 single base substitution C G intron_variant BRCA-EU 7 27863156 27863156 single base substitution C G upstream_gene_variant BRCA-EU 7 27863493 27863493 single base substitution G A intron_variant BRCA-EU 7 27863493 27863493 single base substitution G A upstream_gene_variant BRCA-EU 7 27863519 27863519 single base substitution G T intron_variant BRCA-EU 7 27863519 27863519 single base substitution G T upstream_gene_variant BRCA-EU 7 27865005 27865005 single base substitution C A intron_variant BRCA-EU 7 27865005 27865005 single base substitution C A upstream_gene_variant BRCA-EU 7 27865920 27865920 single base substitution A T intron_variant BRCA-EU 7 27865920 27865920 single base substitution A T upstream_gene_variant BRCA-EU 7 27866055 27866055 deletion of <=200bp T - intron_variant BRCA-EU 7 27866055 27866055 deletion of <=200bp T - upstream_gene_variant BRCA-EU 7 27866745 27866745 single base substitution C T intron_variant BRCA-EU 7 27866745 27866745 single base substitution C T upstream_gene_variant BRCA-EU 7 27866751 27866751 single base substitution A T intron_variant BRCA-EU 7 27866751 27866751 single base substitution A T upstream_gene_variant BRCA-EU 7 27867737 27867737 single base substitution A G intron_variant BRCA-EU 7 27867737 27867737 single base substitution A G upstream_gene_variant BRCA-EU 7 27868537 27868537 single base substitution C T 3_prime_UTR_variant BRCA-EU 7 27868537 27868537 single base substitution C T downstream_gene_variant BRCA-EU 7 27868537 27868537 single base substitution C T intron_variant BRCA-EU 7 27870777 27870777 single base substitution A G downstream_gene_variant BRCA-EU 7 27870777 27870777 single base substitution A G intron_variant BRCA-EU 7 27872062 27872062 single base substitution C G downstream_gene_variant BRCA-EU 7 27872062 27872062 single base substitution C G intron_variant BRCA-EU 7 27872233 27872233 single base substitution G A downstream_gene_variant BRCA-EU 7 27872233 27872233 single base substitution G A intron_variant BRCA-EU 7 27874916 27874916 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 27874916 27874916 deletion of <=200bp A - intron_variant BRCA-EU 7 27874980 27874980 single base substitution C G downstream_gene_variant BRCA-EU 7 27874980 27874980 single base substitution C G intron_variant BRCA-EU 7 27875443 27875443 insertion of <=200bp - A downstream_gene_variant BRCA-EU 7 27875443 27875443 insertion of <=200bp - A intron_variant BRCA-EU 7 27875910 27875910 single base substitution G C downstream_gene_variant BRCA-EU 7 27875910 27875910 single base substitution G C intron_variant BRCA-EU 7 27876144 27876144 single base substitution G A downstream_gene_variant BRCA-EU 7 27876144 27876144 single base substitution G A intron_variant BRCA-EU 7 27876689 27876689 single base substitution C G downstream_gene_variant BRCA-EU 7 27876689 27876689 single base substitution C G intron_variant BRCA-EU 7 27876868 27876868 single base substitution C T downstream_gene_variant BRCA-EU 7 27876868 27876868 single base substitution C T intron_variant BRCA-EU 7 27877452 27877452 single base substitution C T downstream_gene_variant BRCA-EU 7 27877452 27877452 single base substitution C T intron_variant BRCA-EU 7 27877492 27877492 single base substitution A C downstream_gene_variant BRCA-EU 7 27877492 27877492 single base substitution A C intron_variant BRCA-EU 7 27877685 27877685 single base substitution C G downstream_gene_variant BRCA-EU 7 27877685 27877685 single base substitution C G intron_variant BRCA-EU 7 27878736 27878736 single base substitution G C intron_variant BRCA-EU 7 27879445 27879445 deletion of <=200bp T - intron_variant BRCA-EU 7 27880159 27880159 single base substitution G A intron_variant BRCA-EU 7 27881447 27881447 single base substitution G A 3_prime_UTR_variant BRCA-EU 7 27881972 27882007 deletion of <=200bp TTCCCTCATTGCTTCCCAGCCCCCAGTGCCAGGCTC - 3_prime_UTR_variant BRCA-EU 7 27881978 27881978 single base substitution C G 3_prime_UTR_variant BRCA-EU 7 27882139 27882140 deletion of <=200bp AA - 3_prime_UTR_variant BRCA-EU 7 27886208 27886208 single base substitution G A downstream_gene_variant BRCA-EU 7 27886606 27886606 single base substitution G C downstream_gene_variant BRCA-EU 7 27888009 27888009 single base substitution G T downstream_gene_variant BRCA-EU 7 27888551 27888551 single base substitution T C downstream_gene_variant BRCA-FR 7 27774209 27774209 single base substitution C G upstream_gene_variant BRCA-FR 7 27795798 27795798 single base substitution C T intron_variant BRCA-FR 7 27797808 27797808 single base substitution G C exon_variant BRCA-FR 7 27797808 27797808 single base substitution G C intron_variant BRCA-FR 7 27804268 27804268 single base substitution C T intron_variant BRCA-FR 7 27817412 27817412 single base substitution A G intron_variant BRCA-FR 7 27865920 27865920 single base substitution A T intron_variant BRCA-FR 7 27865920 27865920 single base substitution A T upstream_gene_variant BRCA-FR 7 27867737 27867737 single base substitution A G intron_variant BRCA-FR 7 27867737 27867737 single base substitution A G upstream_gene_variant BRCA-FR 7 27872062 27872062 single base substitution C G downstream_gene_variant BRCA-FR 7 27872062 27872062 single base substitution C G intron_variant BRCA-FR 7 27878736 27878736 single base substitution G C intron_variant BRCA-FR 7 27886244 27886244 single base substitution C G downstream_gene_variant BRCA-FR 7 27886606 27886606 single base substitution G C downstream_gene_variant BRCA-UK 7 27803163 27803163 single base substitution A G intron_variant BRCA-UK 7 27888009 27888009 single base substitution G T downstream_gene_variant BRCA-UK 7 27888551 27888551 single base substitution T C downstream_gene_variant BRCA-US 7 27827107 27827107 single base substitution A T 3_prime_UTR_variant BRCA-US 7 27827107 27827107 single base substitution A T missense_variant D151V 452A>T BRCA-US 7 27827107 27827107 single base substitution A T missense_variant D308V 923A>T BRCA-US 7 27831635 27831635 insertion of <=200bp - T 3_prime_UTR_variant BRCA-US 7 27831635 27831635 insertion of <=200bp - T frameshift_variant C193L? BRCA-US 7 27831635 27831635 insertion of <=200bp - T frameshift_variant C350L? BRCA-US 7 27831635 27831635 insertion of <=200bp - T upstream_gene_variant BRCA-US 7 27833979 27833979 single base substitution A T 3_prime_UTR_variant BRCA-US 7 27833979 27833979 single base substitution A T missense_variant N326I 977A>T BRCA-US 7 27833979 27833979 single base substitution A T missense_variant N38I 113A>T BRCA-US 7 27833979 27833979 single base substitution A T missense_variant N483I 1448A>T BRCA-US 7 27839637 27839637 single base substitution G A 3_prime_UTR_variant BRCA-US 7 27839637 27839637 single base substitution G A synonymous_variant L119L 357G>A BRCA-US 7 27839637 27839637 single base substitution G A synonymous_variant L407L 1221G>A BRCA-US 7 27839637 27839637 single base substitution G A synonymous_variant L564L 1692G>A BRCA-US 7 27856569 27856569 single base substitution C G 3_prime_UTR_variant BRCA-US 7 27856569 27856569 single base substitution C G missense_variant S203C 608C>G BRCA-US 7 27856569 27856569 single base substitution C G missense_variant S467C 1400C>G BRCA-US 7 27856569 27856569 single base substitution C G missense_variant S624C 1871C>G BRCA-US 7 27856569 27856569 single base substitution C G missense_variant S666C 1997C>G BRCA-US 7 27856569 27856569 single base substitution C G missense_variant S690C 2069C>G BTCA-JP 7 27797793 27797793 single base substitution C G exon_variant BTCA-JP 7 27797793 27797793 single base substitution C G intron_variant BTCA-JP 7 27807718 27807718 single base substitution A C downstream_gene_variant BTCA-JP 7 27807718 27807718 single base substitution A C intron_variant BTCA-JP 7 27807718 27807718 single base substitution A C upstream_gene_variant BTCA-JP 7 27832808 27832808 single base substitution A T 3_prime_UTR_variant BTCA-JP 7 27832808 27832808 single base substitution A T missense_variant I18L 52A>T BTCA-JP 7 27832808 27832808 single base substitution A T missense_variant I306L 916A>T BTCA-JP 7 27832808 27832808 single base substitution A T missense_variant I463L 1387A>T BTCA-JP 7 27842733 27842733 single base substitution A G intron_variant BTCA-JP 7 27842733 27842733 single base substitution A G synonymous_variant Q145Q 435A>G BTCA-JP 7 27842733 27842733 single base substitution A G synonymous_variant Q590Q 1770A>G BTCA-JP 7 27868498 27868498 single base substitution A C 3_prime_UTR_variant BTCA-JP 7 27868498 27868498 single base substitution A C downstream_gene_variant BTCA-JP 7 27868498 27868498 single base substitution A C intron_variant BTCA-JP 7 27868499 27868499 single base substitution A C 3_prime_UTR_variant BTCA-JP 7 27868499 27868499 single base substitution A C downstream_gene_variant BTCA-JP 7 27868499 27868499 single base substitution A C intron_variant CESC-US 7 27842752 27842752 single base substitution G A intron_variant CESC-US 7 27842752 27842752 single base substitution G A missense_variant E152K 454G>A CESC-US 7 27842752 27842752 single base substitution G A missense_variant E597K 1789G>A CLLE-ES 7 27784584 27784584 single base substitution G T intron_variant CLLE-ES 7 27795378 27795378 single base substitution T G intron_variant CLLE-ES 7 27828451 27828451 single base substitution A G intron_variant CLLE-ES 7 27828451 27828451 single base substitution A G upstream_gene_variant CLLE-ES 7 27838602 27838602 single base substitution A T intron_variant COAD-US 7 27809306 27809306 insertion of <=200bp - A 3_prime_UTR_variant COAD-US 7 27809306 27809306 insertion of <=200bp - A 5_prime_UTR_variant COAD-US 7 27809306 27809306 insertion of <=200bp - A downstream_gene_variant COAD-US 7 27809306 27809306 insertion of <=200bp - A exon_variant COAD-US 7 27809306 27809306 insertion of <=200bp - A frameshift_variant E155E? COAD-US 7 27809323 27809325 deletion of <=200bp AAG - 3_prime_UTR_variant COAD-US 7 27809323 27809325 deletion of <=200bp AAG - downstream_gene_variant COAD-US 7 27809323 27809325 deletion of <=200bp AAG - exon_variant COAD-US 7 27809323 27809325 deletion of <=200bp AAG - inframe_deletion KE161K COAD-US 7 27809323 27809325 deletion of <=200bp AAG - inframe_deletion KE4K COAD-US 7 27809349 27809349 single base substitution G A 3_prime_UTR_variant COAD-US 7 27809349 27809349 single base substitution G A downstream_gene_variant COAD-US 7 27809349 27809349 single base substitution G A exon_variant COAD-US 7 27809349 27809349 single base substitution G A missense_variant V13I 37G>A COAD-US 7 27809349 27809349 single base substitution G A missense_variant V170I 508G>A COAD-US 7 27827103 27827103 single base substitution T A 3_prime_UTR_variant COAD-US 7 27827103 27827103 single base substitution T A missense_variant L150I 448T>A COAD-US 7 27827103 27827103 single base substitution T A missense_variant L307I 919T>A COAD-US 7 27831636 27831636 deletion of <=200bp T - 3_prime_UTR_variant COAD-US 7 27831636 27831636 deletion of <=200bp T - frameshift_variant C193 COAD-US 7 27831636 27831636 deletion of <=200bp T - frameshift_variant C350 COAD-US 7 27831636 27831636 deletion of <=200bp T - upstream_gene_variant COAD-US 7 27831732 27831732 single base substitution C T 3_prime_UTR_variant COAD-US 7 27831732 27831732 single base substitution C T synonymous_variant N225N 675C>T COAD-US 7 27831732 27831732 single base substitution C T synonymous_variant N382N 1146C>T COAD-US 7 27831732 27831732 single base substitution C T upstream_gene_variant COAD-US 7 27831847 27831847 single base substitution C A missense_variant Q264K 790C>A COAD-US 7 27831847 27831847 single base substitution C A missense_variant Q421K 1261C>A COAD-US 7 27831847 27831847 single base substitution C A splice_region_variant COAD-US 7 27831847 27831847 single base substitution C A upstream_gene_variant COAD-US 7 27832742 27832742 single base substitution C A 3_prime_UTR_variant COAD-US 7 27832742 27832742 single base substitution C A missense_variant R284S 850C>A COAD-US 7 27832742 27832742 single base substitution C A missense_variant R441S 1321C>A COAD-US 7 27832742 27832742 single base substitution C A upstream_gene_variant COAD-US 7 27839636 27839636 single base substitution T C 3_prime_UTR_variant COAD-US 7 27839636 27839636 single base substitution T C missense_variant L119P 356T>C COAD-US 7 27839636 27839636 single base substitution T C missense_variant L407P 1220T>C COAD-US 7 27839636 27839636 single base substitution T C missense_variant L564P 1691T>C COAD-US 7 27872543 27872543 single base substitution C T downstream_gene_variant COAD-US 7 27872543 27872543 single base substitution C T exon_variant COAD-US 7 27872543 27872543 single base substitution C T intron_variant COCA-CN 7 27779765 27779765 single base substitution G A 5_prime_UTR_variant COCA-CN 7 27779765 27779765 single base substitution G A intron_variant COCA-CN 7 27779765 27779765 single base substitution G A upstream_gene_variant COCA-CN 7 27783393 27783393 single base substitution T A intron_variant COCA-CN 7 27783410 27783410 single base substitution T A intron_variant COCA-CN 7 27785263 27785263 single base substitution A G intron_variant COCA-CN 7 27797114 27797114 single base substitution C A intron_variant COCA-CN 7 27797772 27797772 single base substitution G T exon_variant COCA-CN 7 27797772 27797772 single base substitution G T intron_variant COCA-CN 7 27803716 27803716 single base substitution T G intron_variant COCA-CN 7 27807450 27807450 single base substitution G C downstream_gene_variant COCA-CN 7 27807450 27807450 single base substitution G C intron_variant COCA-CN 7 27807450 27807450 single base substitution G C upstream_gene_variant COCA-CN 7 27807591 27807591 single base substitution C T downstream_gene_variant COCA-CN 7 27807591 27807591 single base substitution C T intron_variant COCA-CN 7 27807591 27807591 single base substitution C T upstream_gene_variant COCA-CN 7 27809403 27809403 single base substitution G T 3_prime_UTR_variant COCA-CN 7 27809403 27809403 single base substitution G T downstream_gene_variant COCA-CN 7 27809403 27809403 single base substitution G T exon_variant COCA-CN 7 27809403 27809403 single base substitution G T stop_gained E188* 562G>T COCA-CN 7 27809403 27809403 single base substitution G T stop_gained E31* 91G>T COCA-CN 7 27809807 27809807 single base substitution T A downstream_gene_variant COCA-CN 7 27809807 27809807 single base substitution T A intron_variant COCA-CN 7 27815630 27815630 single base substitution C T downstream_gene_variant COCA-CN 7 27815630 27815630 single base substitution C T intron_variant COCA-CN 7 27818479 27818479 single base substitution A T intron_variant COCA-CN 7 27824809 27824809 single base substitution A C 3_prime_UTR_variant COCA-CN 7 27824809 27824809 single base substitution A C missense_variant K214Q 640A>C COCA-CN 7 27824809 27824809 single base substitution A C missense_variant K57Q 169A>C COCA-CN 7 27824920 27824920 single base substitution G A 3_prime_UTR_variant COCA-CN 7 27824920 27824920 single base substitution G A missense_variant E251K 751G>A COCA-CN 7 27824920 27824920 single base substitution G A missense_variant E94K 280G>A COCA-CN 7 27825069 27825069 single base substitution T C 3_prime_UTR_variant COCA-CN 7 27825069 27825069 single base substitution T C synonymous_variant C114C 342T>C COCA-CN 7 27825069 27825069 single base substitution T C synonymous_variant C271C 813T>C COCA-CN 7 27826523 27826523 single base substitution G A intron_variant COCA-CN 7 27827194 27827194 single base substitution G T 3_prime_UTR_variant COCA-CN 7 27827194 27827194 single base substitution G T missense_variant R180I 539G>T COCA-CN 7 27827194 27827194 single base substitution G T missense_variant R337I 1010G>T COCA-CN 7 27827734 27827734 single base substitution G T intron_variant COCA-CN 7 27829147 27829147 single base substitution C G intron_variant COCA-CN 7 27829147 27829147 single base substitution C G upstream_gene_variant COCA-CN 7 27834112 27834112 single base substitution G A intron_variant COCA-CN 7 27835623 27835623 single base substitution G A intron_variant COCA-CN 7 27878268 27878268 single base substitution T A intron_variant ESAD-UK 7 27774016 27774016 single base substitution T C upstream_gene_variant ESAD-UK 7 27774908 27774908 single base substitution A G upstream_gene_variant ESAD-UK 7 27776791 27776791 single base substitution C T upstream_gene_variant ESAD-UK 7 27779704 27779704 single base substitution G A intron_variant ESAD-UK 7 27779704 27779704 single base substitution G A upstream_gene_variant ESAD-UK 7 27781738 27781738 single base substitution C T intron_variant ESAD-UK 7 27784033 27784033 single base substitution C G intron_variant ESAD-UK 7 27784425 27784428 deletion of <=200bp TAAC - intron_variant ESAD-UK 7 27787775 27787775 single base substitution T C intron_variant ESAD-UK 7 27791094 27791094 single base substitution C T intron_variant ESAD-UK 7 27795017 27795017 single base substitution T G intron_variant ESAD-UK 7 27795066 27795067 deletion of <=200bp TC - intron_variant ESAD-UK 7 27797480 27797480 single base substitution C T intron_variant ESAD-UK 7 27797683 27797683 deletion of <=200bp T - 5_prime_UTR_variant ESAD-UK 7 27797683 27797683 deletion of <=200bp T - exon_variant ESAD-UK 7 27797683 27797683 deletion of <=200bp T - frameshift_variant F66 ESAD-UK 7 27799107 27799107 single base substitution C T downstream_gene_variant ESAD-UK 7 27799107 27799107 single base substitution C T intron_variant ESAD-UK 7 27799347 27799347 single base substitution A C downstream_gene_variant ESAD-UK 7 27799347 27799347 single base substitution A C intron_variant ESAD-UK 7 27800121 27800121 single base substitution C T downstream_gene_variant ESAD-UK 7 27800121 27800121 single base substitution C T intron_variant ESAD-UK 7 27800179 27800179 insertion of <=200bp - T downstream_gene_variant ESAD-UK 7 27800179 27800179 insertion of <=200bp - T intron_variant ESAD-UK 7 27800754 27800754 single base substitution G T downstream_gene_variant ESAD-UK 7 27800754 27800754 single base substitution G T intron_variant ESAD-UK 7 27801928 27801928 single base substitution T A downstream_gene_variant ESAD-UK 7 27801928 27801928 single base substitution T A intron_variant ESAD-UK 7 27802928 27802928 single base substitution C G downstream_gene_variant ESAD-UK 7 27802928 27802928 single base substitution C G intron_variant ESAD-UK 7 27802928 27802928 single base substitution C T downstream_gene_variant ESAD-UK 7 27802928 27802928 single base substitution C T intron_variant ESAD-UK 7 27804201 27804201 deletion of <=200bp T - intron_variant ESAD-UK 7 27807530 27807530 single base substitution A G downstream_gene_variant ESAD-UK 7 27807530 27807530 single base substitution A G intron_variant ESAD-UK 7 27807530 27807530 single base substitution A G upstream_gene_variant ESAD-UK 7 27811132 27811132 single base substitution C T intron_variant ESAD-UK 7 27815321 27815321 single base substitution A G downstream_gene_variant ESAD-UK 7 27815321 27815321 single base substitution A G intron_variant ESAD-UK 7 27818184 27818184 single base substitution T A intron_variant ESAD-UK 7 27818678 27818678 insertion of <=200bp - T intron_variant ESAD-UK 7 27818685 27818685 single base substitution T A intron_variant ESAD-UK 7 27819574 27819574 single base substitution A G intron_variant ESAD-UK 7 27821839 27821843 deletion of <=200bp TTTTC - intron_variant ESAD-UK 7 27825912 27825912 single base substitution G A intron_variant ESAD-UK 7 27826020 27826020 single base substitution G A intron_variant ESAD-UK 7 27828158 27828158 single base substitution T A intron_variant ESAD-UK 7 27828158 27828158 single base substitution T A upstream_gene_variant ESAD-UK 7 27828443 27828443 deletion of <=200bp T - intron_variant ESAD-UK 7 27828443 27828443 deletion of <=200bp T - upstream_gene_variant ESAD-UK 7 27835450 27835450 single base substitution A C intron_variant ESAD-UK 7 27837306 27837306 single base substitution C G intron_variant ESAD-UK 7 27839225 27839225 single base substitution T A intron_variant ESAD-UK 7 27844621 27844621 single base substitution C G intron_variant ESAD-UK 7 27846561 27846561 single base substitution A G intron_variant ESAD-UK 7 27847866 27847866 single base substitution C A intron_variant ESAD-UK 7 27847903 27847903 single base substitution A C intron_variant ESAD-UK 7 27848397 27848397 single base substitution T G intron_variant ESAD-UK 7 27848665 27848665 single base substitution A G intron_variant ESAD-UK 7 27848815 27848815 single base substitution C T intron_variant ESAD-UK 7 27852440 27852440 single base substitution C T intron_variant ESAD-UK 7 27852868 27852868 single base substitution T C intron_variant ESAD-UK 7 27853256 27853256 single base substitution T C intron_variant ESAD-UK 7 27854773 27854773 single base substitution G A intron_variant ESAD-UK 7 27859658 27859658 single base substitution T G intron_variant ESAD-UK 7 27860167 27860167 single base substitution A G intron_variant ESAD-UK 7 27865792 27865792 single base substitution A C intron_variant ESAD-UK 7 27865792 27865792 single base substitution A C upstream_gene_variant ESAD-UK 7 27866970 27866970 single base substitution C T intron_variant ESAD-UK 7 27866970 27866970 single base substitution C T upstream_gene_variant ESAD-UK 7 27868227 27868227 single base substitution C A intron_variant ESAD-UK 7 27868227 27868227 single base substitution C A upstream_gene_variant ESAD-UK 7 27868268 27868268 single base substitution T C 3_prime_UTR_variant ESAD-UK 7 27868268 27868268 single base substitution T C synonymous_variant C14C 42T>C ESAD-UK 7 27868268 27868268 single base substitution T C synonymous_variant C267C 801T>C ESAD-UK 7 27868268 27868268 single base substitution T C synonymous_variant C531C 1593T>C ESAD-UK 7 27868268 27868268 single base substitution T C synonymous_variant C688C 2064T>C ESAD-UK 7 27868268 27868268 single base substitution T C synonymous_variant C730C 2190T>C ESAD-UK 7 27868268 27868268 single base substitution T C synonymous_variant C754C 2262T>C ESAD-UK 7 27868268 27868268 single base substitution T C upstream_gene_variant ESAD-UK 7 27870798 27870798 single base substitution C A downstream_gene_variant ESAD-UK 7 27870798 27870798 single base substitution C A intron_variant ESAD-UK 7 27871481 27871481 single base substitution G T downstream_gene_variant ESAD-UK 7 27871481 27871481 single base substitution G T intron_variant ESAD-UK 7 27873319 27873319 single base substitution G A downstream_gene_variant ESAD-UK 7 27873319 27873319 single base substitution G A intron_variant ESAD-UK 7 27875479 27875479 single base substitution T C downstream_gene_variant ESAD-UK 7 27875479 27875479 single base substitution T C intron_variant ESAD-UK 7 27877266 27877266 single base substitution C A downstream_gene_variant ESAD-UK 7 27877266 27877266 single base substitution C A intron_variant ESAD-UK 7 27878125 27878125 single base substitution G A intron_variant ESAD-UK 7 27880671 27880671 single base substitution C T 3_prime_UTR_variant ESAD-UK 7 27880759 27880759 single base substitution T G 3_prime_UTR_variant ESAD-UK 7 27880896 27880896 single base substitution C T 3_prime_UTR_variant ESAD-UK 7 27882411 27882411 single base substitution C G 3_prime_UTR_variant ESAD-UK 7 27887913 27887913 deletion of <=200bp T - downstream_gene_variant ESAD-UK 7 27888188 27888188 single base substitution C T downstream_gene_variant ESAD-UK 7 27888257 27888257 single base substitution C T downstream_gene_variant ESAD-UK 7 27888820 27888820 single base substitution C T downstream_gene_variant ESCA-CN 7 27788029 27788029 single base substitution A G intron_variant KIRC-US 7 27788296 27788296 single base substitution T G 5_prime_UTR_variant KIRC-US 7 27788296 27788296 single base substitution T G exon_variant KIRC-US 7 27788296 27788296 single base substitution T G synonymous_variant G51G 153T>G KIRC-US 7 27856058 27856058 insertion of <=200bp - A frameshift_variant Q619T? KIRC-US 7 27856058 27856058 insertion of <=200bp - A frameshift_variant Q643T? KIRC-US 7 27856058 27856058 insertion of <=200bp - A intron_variant KIRC-US 7 27868314 27868314 single base substitution T A 3_prime_UTR_variant KIRC-US 7 27868314 27868314 single base substitution T A missense_variant F283I 847T>A KIRC-US 7 27868314 27868314 single base substitution T A missense_variant F30I 88T>A KIRC-US 7 27868314 27868314 single base substitution T A missense_variant F547I 1639T>A KIRC-US 7 27868314 27868314 single base substitution T A missense_variant F704I 2110T>A KIRC-US 7 27868314 27868314 single base substitution T A missense_variant F746I 2236T>A KIRC-US 7 27868314 27868314 single base substitution T A missense_variant F770I 2308T>A KIRC-US 7 27868314 27868314 single base substitution T A upstream_gene_variant KIRP-US 7 27856087 27856087 single base substitution T C intron_variant KIRP-US 7 27856087 27856087 single base substitution T C synonymous_variant N628N 1884T>C KIRP-US 7 27856087 27856087 single base substitution T C synonymous_variant N652N 1956T>C KIRP-US 7 27856559 27856559 single base substitution A T 3_prime_UTR_variant KIRP-US 7 27856559 27856559 single base substitution A T stop_gained R200* 598A>T KIRP-US 7 27856559 27856559 single base substitution A T stop_gained R464* 1390A>T KIRP-US 7 27856559 27856559 single base substitution A T stop_gained R621* 1861A>T KIRP-US 7 27856559 27856559 single base substitution A T stop_gained R663* 1987A>T KIRP-US 7 27856559 27856559 single base substitution A T stop_gained R687* 2059A>T LGG-US 7 27880436 27880436 single base substitution C G synonymous_variant L91L 273C>G LGG-US 7 27880439 27880439 single base substitution C T synonymous_variant I92I 276C>T LGG-US 7 27880445 27880445 single base substitution C T synonymous_variant V94V 282C>T LICA-FR 7 27807883 27807883 single base substitution A G downstream_gene_variant LICA-FR 7 27807883 27807883 single base substitution A G intron_variant LICA-FR 7 27807883 27807883 single base substitution A G upstream_gene_variant LICA-FR 7 27822720 27822720 single base substitution A C intron_variant LICA-FR 7 27827106 27827106 single base substitution G C 3_prime_UTR_variant LICA-FR 7 27827106 27827106 single base substitution G C missense_variant D151H 451G>C LICA-FR 7 27827106 27827106 single base substitution G C missense_variant D308H 922G>C LICA-FR 7 27837691 27837706 deletion of <=200bp CTTTTAGACAATTTTA - intron_variant LICA-FR 7 27839027 27839027 single base substitution A G intron_variant LICA-FR 7 27855381 27855381 single base substitution G A intron_variant LICA-FR 7 27857469 27857469 single base substitution T C intron_variant LICA-FR 7 27861254 27861254 deletion of <=200bp A - intron_variant LICA-FR 7 27861534 27861534 single base substitution A C intron_variant LICA-FR 7 27879037 27879037 single base substitution G T intron_variant LICA-FR 7 27879038 27879038 single base substitution C T intron_variant LICA-FR 7 27882745 27882745 single base substitution G T 3_prime_UTR_variant LIHC-US 7 27831697 27831697 single base substitution G A 3_prime_UTR_variant LIHC-US 7 27831697 27831697 single base substitution G A missense_variant V214I 640G>A LIHC-US 7 27831697 27831697 single base substitution G A missense_variant V371I 1111G>A LIHC-US 7 27831697 27831697 single base substitution G A upstream_gene_variant LIHC-US 7 27833956 27833956 single base substitution T C 3_prime_UTR_variant LIHC-US 7 27833956 27833956 single base substitution T C synonymous_variant N30N 90T>C LIHC-US 7 27833956 27833956 single base substitution T C synonymous_variant N318N 954T>C LIHC-US 7 27833956 27833956 single base substitution T C synonymous_variant N475N 1425T>C LINC-JP 7 27800662 27800662 single base substitution C G downstream_gene_variant LINC-JP 7 27800662 27800662 single base substitution C G intron_variant LINC-JP 7 27809430 27809430 single base substitution G A 3_prime_UTR_variant LINC-JP 7 27809430 27809430 single base substitution G A downstream_gene_variant LINC-JP 7 27809430 27809430 single base substitution G A exon_variant LINC-JP 7 27809430 27809430 single base substitution G A missense_variant D197N 589G>A LINC-JP 7 27809430 27809430 single base substitution G A missense_variant D40N 118G>A LINC-JP 7 27817140 27817140 single base substitution C A downstream_gene_variant LINC-JP 7 27817140 27817140 single base substitution C A intron_variant LINC-JP 7 27828991 27828991 single base substitution A G intron_variant LINC-JP 7 27828991 27828991 single base substitution A G upstream_gene_variant LINC-JP 7 27834007 27834007 single base substitution A G 3_prime_UTR_variant LINC-JP 7 27834007 27834007 single base substitution A G synonymous_variant V335V 1005A>G LINC-JP 7 27834007 27834007 single base substitution A G synonymous_variant V47V 141A>G LINC-JP 7 27834007 27834007 single base substitution A G synonymous_variant V492V 1476A>G LINC-JP 7 27835527 27835527 single base substitution T A intron_variant LINC-JP 7 27835800 27835800 single base substitution A G 3_prime_UTR_variant LINC-JP 7 27835800 27835800 single base substitution A G missense_variant K377E 1129A>G LINC-JP 7 27835800 27835800 single base substitution A G missense_variant K534E 1600A>G LINC-JP 7 27835800 27835800 single base substitution A G missense_variant K89E 265A>G LINC-JP 7 27843888 27843888 single base substitution T A intron_variant LINC-JP 7 27849827 27849827 deletion of <=200bp T - intron_variant LINC-JP 7 27868500 27868500 single base substitution A C 3_prime_UTR_variant LINC-JP 7 27868500 27868500 single base substitution A C downstream_gene_variant LINC-JP 7 27868500 27868500 single base substitution A C intron_variant LINC-JP 7 27868501 27868501 single base substitution C A 3_prime_UTR_variant LINC-JP 7 27868501 27868501 single base substitution C A downstream_gene_variant LINC-JP 7 27868501 27868501 single base substitution C A intron_variant LINC-JP 7 27869258 27869258 single base substitution T C downstream_gene_variant LINC-JP 7 27869258 27869258 single base substitution T C intron_variant LINC-JP 7 27880111 27880111 single base substitution G A intron_variant LINC-JP 7 27885960 27885960 single base substitution A G downstream_gene_variant LIRI-JP 7 27775762 27775762 single base substitution A C upstream_gene_variant LIRI-JP 7 27779619 27779619 single base substitution G A intron_variant LIRI-JP 7 27779619 27779619 single base substitution G A upstream_gene_variant LIRI-JP 7 27780063 27780063 single base substitution G T intron_variant LIRI-JP 7 27780530 27780530 single base substitution G A intron_variant LIRI-JP 7 27782706 27782706 single base substitution A T intron_variant LIRI-JP 7 27784583 27784583 single base substitution A T intron_variant LIRI-JP 7 27784808 27784808 single base substitution A G intron_variant LIRI-JP 7 27788717 27788717 single base substitution A T intron_variant LIRI-JP 7 27790686 27790686 single base substitution A G intron_variant LIRI-JP 7 27791863 27791863 single base substitution G A intron_variant LIRI-JP 7 27793914 27793914 single base substitution C T intron_variant LIRI-JP 7 27795016 27795016 single base substitution C A intron_variant LIRI-JP 7 27797476 27797476 single base substitution T C intron_variant LIRI-JP 7 27798393 27798393 single base substitution A G downstream_gene_variant LIRI-JP 7 27798393 27798393 single base substitution A G intron_variant LIRI-JP 7 27798742 27798742 single base substitution T C downstream_gene_variant LIRI-JP 7 27798742 27798742 single base substitution T C intron_variant LIRI-JP 7 27799205 27799205 single base substitution T G downstream_gene_variant LIRI-JP 7 27799205 27799205 single base substitution T G intron_variant LIRI-JP 7 27801263 27801263 single base substitution G A downstream_gene_variant LIRI-JP 7 27801263 27801263 single base substitution G A intron_variant LIRI-JP 7 27803380 27803380 single base substitution C A intron_variant LIRI-JP 7 27804406 27804406 single base substitution C A intron_variant LIRI-JP 7 27804406 27804406 single base substitution C A upstream_gene_variant LIRI-JP 7 27804965 27804965 single base substitution C T intron_variant LIRI-JP 7 27804965 27804965 single base substitution C T upstream_gene_variant LIRI-JP 7 27805584 27805584 single base substitution G C downstream_gene_variant LIRI-JP 7 27805584 27805584 single base substitution G C intron_variant LIRI-JP 7 27805584 27805584 single base substitution G C missense_variant E133Q 397G>C LIRI-JP 7 27805584 27805584 single base substitution G C upstream_gene_variant LIRI-JP 7 27806230 27806230 single base substitution G A downstream_gene_variant LIRI-JP 7 27806230 27806230 single base substitution G A intron_variant LIRI-JP 7 27806230 27806230 single base substitution G A upstream_gene_variant LIRI-JP 7 27807090 27807090 single base substitution A G downstream_gene_variant LIRI-JP 7 27807090 27807090 single base substitution A G intron_variant LIRI-JP 7 27807090 27807090 single base substitution A G upstream_gene_variant LIRI-JP 7 27808346 27808346 single base substitution A T downstream_gene_variant LIRI-JP 7 27808346 27808346 single base substitution A T intron_variant LIRI-JP 7 27808346 27808346 single base substitution A T upstream_gene_variant LIRI-JP 7 27811239 27811239 single base substitution G A intron_variant LIRI-JP 7 27811398 27811398 single base substitution T C intron_variant LIRI-JP 7 27812132 27812132 single base substitution A G exon_variant LIRI-JP 7 27812132 27812132 single base substitution A G intron_variant LIRI-JP 7 27814289 27814289 single base substitution T C downstream_gene_variant LIRI-JP 7 27814289 27814289 single base substitution T C intron_variant LIRI-JP 7 27815794 27815794 single base substitution G A downstream_gene_variant LIRI-JP 7 27815794 27815794 single base substitution G A intron_variant LIRI-JP 7 27816472 27816472 single base substitution C T downstream_gene_variant LIRI-JP 7 27816472 27816472 single base substitution C T intron_variant LIRI-JP 7 27816512 27816512 single base substitution A T downstream_gene_variant LIRI-JP 7 27816512 27816512 single base substitution A T intron_variant LIRI-JP 7 27816907 27816907 single base substitution G T downstream_gene_variant LIRI-JP 7 27816907 27816907 single base substitution G T intron_variant LIRI-JP 7 27820347 27820347 single base substitution T C intron_variant LIRI-JP 7 27821828 27821828 single base substitution A G intron_variant LIRI-JP 7 27823843 27823843 single base substitution A G intron_variant LIRI-JP 7 27825646 27825646 single base substitution T C intron_variant LIRI-JP 7 27825846 27825846 single base substitution G T intron_variant LIRI-JP 7 27826481 27826481 single base substitution A G intron_variant LIRI-JP 7 27826742 27826742 single base substitution C T intron_variant LIRI-JP 7 27827340 27827340 single base substitution A G intron_variant LIRI-JP 7 27833125 27833131 deletion of <=200bp TACTTAT - intron_variant LIRI-JP 7 27833269 27833269 single base substitution G T intron_variant LIRI-JP 7 27833733 27833733 single base substitution A G intron_variant LIRI-JP 7 27834015 27834015 single base substitution A C 3_prime_UTR_variant LIRI-JP 7 27834015 27834015 single base substitution A C missense_variant D338A 1013A>C LIRI-JP 7 27834015 27834015 single base substitution A C missense_variant D495A 1484A>C LIRI-JP 7 27834015 27834015 single base substitution A C missense_variant D50A 149A>C LIRI-JP 7 27836593 27836593 single base substitution T C intron_variant LIRI-JP 7 27837210 27837210 single base substitution A G intron_variant LIRI-JP 7 27838698 27838698 single base substitution C G intron_variant LIRI-JP 7 27840059 27840059 single base substitution G A intron_variant LIRI-JP 7 27841588 27841588 single base substitution C T intron_variant LIRI-JP 7 27843908 27843908 single base substitution A C intron_variant LIRI-JP 7 27844714 27844714 single base substitution A T intron_variant LIRI-JP 7 27845052 27845052 single base substitution A G intron_variant LIRI-JP 7 27851666 27851666 single base substitution T C intron_variant LIRI-JP 7 27851915 27851915 single base substitution T C intron_variant LIRI-JP 7 27852416 27852416 single base substitution G A intron_variant LIRI-JP 7 27853539 27853539 single base substitution G T intron_variant LIRI-JP 7 27857528 27857528 single base substitution G T intron_variant LIRI-JP 7 27861637 27861637 single base substitution T G intron_variant LIRI-JP 7 27862219 27862219 single base substitution T C intron_variant LIRI-JP 7 27862718 27862721 deletion of <=200bp TAGA - intron_variant LIRI-JP 7 27862718 27862721 deletion of <=200bp TAGA - upstream_gene_variant LIRI-JP 7 27869611 27869611 single base substitution A C downstream_gene_variant LIRI-JP 7 27869611 27869611 single base substitution A C intron_variant LIRI-JP 7 27869619 27869619 insertion of <=200bp - G downstream_gene_variant LIRI-JP 7 27869619 27869619 insertion of <=200bp - G intron_variant LIRI-JP 7 27870009 27870009 single base substitution T G downstream_gene_variant LIRI-JP 7 27870009 27870009 single base substitution T G intron_variant LIRI-JP 7 27871030 27871030 single base substitution T C downstream_gene_variant LIRI-JP 7 27871030 27871030 single base substitution T C intron_variant LIRI-JP 7 27872858 27872858 single base substitution T G downstream_gene_variant LIRI-JP 7 27872858 27872858 single base substitution T G intron_variant LIRI-JP 7 27872947 27872947 single base substitution T G downstream_gene_variant LIRI-JP 7 27872947 27872947 single base substitution T G intron_variant LIRI-JP 7 27873011 27873011 single base substitution T G downstream_gene_variant LIRI-JP 7 27873011 27873011 single base substitution T G intron_variant LIRI-JP 7 27873279 27873279 insertion of <=200bp - TTT downstream_gene_variant LIRI-JP 7 27873279 27873279 insertion of <=200bp - TTT intron_variant LIRI-JP 7 27874317 27874317 single base substitution G T downstream_gene_variant LIRI-JP 7 27874317 27874317 single base substitution G T intron_variant LIRI-JP 7 27878067 27878067 single base substitution T C intron_variant LIRI-JP 7 27879635 27879635 single base substitution A G intron_variant LIRI-JP 7 27881438 27881438 single base substitution A C 3_prime_UTR_variant LIRI-JP 7 27881464 27881464 single base substitution A C 3_prime_UTR_variant LIRI-JP 7 27881828 27881828 single base substitution C T 3_prime_UTR_variant LIRI-JP 7 27884904 27884904 single base substitution C T downstream_gene_variant LUSC-KR 7 27777799 27777799 single base substitution G A upstream_gene_variant LUSC-KR 7 27779601 27779601 single base substitution T C intron_variant LUSC-KR 7 27779601 27779601 single base substitution T C upstream_gene_variant LUSC-KR 7 27779656 27779656 single base substitution G C intron_variant LUSC-KR 7 27779656 27779656 single base substitution G C upstream_gene_variant LUSC-KR 7 27781183 27781183 single base substitution G T intron_variant LUSC-KR 7 27786815 27786815 single base substitution A G intron_variant LUSC-KR 7 27792597 27792597 single base substitution G T intron_variant LUSC-KR 7 27794410 27794410 single base substitution G C intron_variant LUSC-KR 7 27796334 27796334 single base substitution A G intron_variant LUSC-KR 7 27801804 27801804 single base substitution G T downstream_gene_variant LUSC-KR 7 27801804 27801804 single base substitution G T intron_variant LUSC-KR 7 27805541 27805541 single base substitution C G downstream_gene_variant LUSC-KR 7 27805541 27805541 single base substitution C G intron_variant LUSC-KR 7 27805541 27805541 single base substitution C G missense_variant F118L 354C>G LUSC-KR 7 27805541 27805541 single base substitution C G upstream_gene_variant LUSC-KR 7 27810888 27810888 single base substitution A T intron_variant LUSC-KR 7 27812712 27812712 single base substitution C T downstream_gene_variant LUSC-KR 7 27812712 27812712 single base substitution C T intron_variant LUSC-KR 7 27814576 27814576 single base substitution G A downstream_gene_variant LUSC-KR 7 27814576 27814576 single base substitution G A intron_variant LUSC-KR 7 27826923 27826923 single base substitution A G intron_variant LUSC-KR 7 27830551 27830551 single base substitution G T intron_variant LUSC-KR 7 27830551 27830551 single base substitution G T upstream_gene_variant LUSC-KR 7 27832303 27832303 single base substitution G T intron_variant LUSC-KR 7 27832303 27832303 single base substitution G T upstream_gene_variant LUSC-KR 7 27834830 27834830 single base substitution G A intron_variant LUSC-KR 7 27836647 27836647 single base substitution C T intron_variant LUSC-KR 7 27843627 27843627 single base substitution A T intron_variant LUSC-KR 7 27845423 27845423 single base substitution C G intron_variant LUSC-KR 7 27847619 27847619 single base substitution T A intron_variant LUSC-KR 7 27859007 27859007 single base substitution G C intron_variant LUSC-KR 7 27867038 27867038 single base substitution T A intron_variant LUSC-KR 7 27867038 27867038 single base substitution T A upstream_gene_variant LUSC-KR 7 27870203 27870203 single base substitution G T downstream_gene_variant LUSC-KR 7 27870203 27870203 single base substitution G T intron_variant LUSC-KR 7 27870343 27870343 single base substitution A G downstream_gene_variant LUSC-KR 7 27870343 27870343 single base substitution A G intron_variant LUSC-KR 7 27875868 27875868 single base substitution G T downstream_gene_variant LUSC-KR 7 27875868 27875868 single base substitution G T intron_variant LUSC-KR 7 27880131 27880131 single base substitution G A intron_variant LUSC-KR 7 27880377 27880377 single base substitution C T missense_variant H72Y 214C>T LUSC-KR 7 27880849 27880849 single base substitution T A 3_prime_UTR_variant LUSC-KR 7 27880850 27880850 single base substitution C A 3_prime_UTR_variant LUSC-KR 7 27884674 27884674 single base substitution C T downstream_gene_variant LUSC-KR 7 27885315 27885315 single base substitution C A downstream_gene_variant LUSC-KR 7 27886758 27886758 single base substitution C A downstream_gene_variant LUSC-US 7 27833973 27833973 single base substitution C T 3_prime_UTR_variant LUSC-US 7 27833973 27833973 single base substitution C T missense_variant T324M 971C>T LUSC-US 7 27833973 27833973 single base substitution C T missense_variant T36M 107C>T LUSC-US 7 27833973 27833973 single base substitution C T missense_variant T481M 1442C>T LUSC-US 7 27868362 27868362 single base substitution G T 3_prime_UTR_variant LUSC-US 7 27868362 27868362 single base substitution G T exon_variant LUSC-US 7 27868362 27868362 single base substitution G T stop_gained E299* 895G>T LUSC-US 7 27868362 27868362 single base substitution G T stop_gained E46* 136G>T LUSC-US 7 27868362 27868362 single base substitution G T stop_gained E563* 1687G>T LUSC-US 7 27868362 27868362 single base substitution G T stop_gained E720* 2158G>T LUSC-US 7 27868362 27868362 single base substitution G T stop_gained E762* 2284G>T LUSC-US 7 27868362 27868362 single base substitution G T stop_gained E786* 2356G>T LUSC-US 7 27872493 27872493 single base substitution G C downstream_gene_variant LUSC-US 7 27872493 27872493 single base substitution G C exon_variant LUSC-US 7 27872493 27872493 single base substitution G C intron_variant MALY-DE 7 27780675 27780675 single base substitution T C intron_variant MALY-DE 7 27795905 27795905 single base substitution C A intron_variant MALY-DE 7 27797147 27797147 single base substitution G T intron_variant MALY-DE 7 27805561 27805561 single base substitution C T downstream_gene_variant MALY-DE 7 27805561 27805561 single base substitution C T intron_variant MALY-DE 7 27805561 27805561 single base substitution C T missense_variant P125L 374C>T MALY-DE 7 27805561 27805561 single base substitution C T upstream_gene_variant MALY-DE 7 27810079 27810079 single base substitution A T downstream_gene_variant MALY-DE 7 27810079 27810079 single base substitution A T intron_variant MALY-DE 7 27815908 27815908 single base substitution T C downstream_gene_variant MALY-DE 7 27815908 27815908 single base substitution T C intron_variant MALY-DE 7 27820781 27820781 single base substitution C T intron_variant MALY-DE 7 27835547 27835547 single base substitution A G intron_variant MALY-DE 7 27836628 27836628 single base substitution T A intron_variant MALY-DE 7 27838365 27838365 single base substitution A T intron_variant MALY-DE 7 27839808 27839808 single base substitution T G intron_variant MALY-DE 7 27846000 27846000 deletion of <=200bp T - intron_variant MALY-DE 7 27851025 27851025 single base substitution G A intron_variant MALY-DE 7 27856979 27856979 single base substitution T C intron_variant MALY-DE 7 27861093 27861093 single base substitution T C intron_variant MALY-DE 7 27866107 27866107 single base substitution T C intron_variant MALY-DE 7 27866107 27866107 single base substitution T C upstream_gene_variant MALY-DE 7 27870620 27870620 insertion of <=200bp - T downstream_gene_variant MALY-DE 7 27870620 27870620 insertion of <=200bp - T intron_variant MALY-DE 7 27870895 27870895 single base substitution T C downstream_gene_variant MALY-DE 7 27870895 27870895 single base substitution T C intron_variant MALY-DE 7 27873269 27873269 single base substitution T A downstream_gene_variant MALY-DE 7 27873269 27873269 single base substitution T A intron_variant MALY-DE 7 27873327 27873327 single base substitution T C downstream_gene_variant MALY-DE 7 27873327 27873327 single base substitution T C intron_variant MALY-DE 7 27873360 27873360 single base substitution T C downstream_gene_variant MALY-DE 7 27873360 27873360 single base substitution T C intron_variant MALY-DE 7 27873474 27873474 single base substitution T A downstream_gene_variant MALY-DE 7 27873474 27873474 single base substitution T A intron_variant MALY-DE 7 27873652 27873652 single base substitution T C downstream_gene_variant MALY-DE 7 27873652 27873652 single base substitution T C intron_variant MALY-DE 7 27887955 27887955 deletion of <=200bp T - downstream_gene_variant MELA-AU 7 27773966 27773966 single base substitution G A upstream_gene_variant MELA-AU 7 27774065 27774065 single base substitution G A upstream_gene_variant MELA-AU 7 27774174 27774174 single base substitution G A upstream_gene_variant MELA-AU 7 27774175 27774175 single base substitution G A upstream_gene_variant MELA-AU 7 27774308 27774308 single base substitution C T upstream_gene_variant MELA-AU 7 27774353 27774353 single base substitution G A upstream_gene_variant MELA-AU 7 27774474 27774474 single base substitution G A upstream_gene_variant MELA-AU 7 27774666 27774666 single base substitution T A upstream_gene_variant MELA-AU 7 27775307 27775307 single base substitution A G upstream_gene_variant MELA-AU 7 27775342 27775342 single base substitution G A upstream_gene_variant MELA-AU 7 27775509 27775509 single base substitution G A upstream_gene_variant MELA-AU 7 27775523 27775523 single base substitution G A upstream_gene_variant MELA-AU 7 27775676 27775676 single base substitution G A upstream_gene_variant MELA-AU 7 27775684 27775684 single base substitution G A upstream_gene_variant MELA-AU 7 27776196 27776196 single base substitution G A upstream_gene_variant MELA-AU 7 27776243 27776243 single base substitution G A upstream_gene_variant MELA-AU 7 27776604 27776604 single base substitution C T upstream_gene_variant MELA-AU 7 27776605 27776605 single base substitution C A upstream_gene_variant MELA-AU 7 27776614 27776614 single base substitution C T upstream_gene_variant MELA-AU 7 27777127 27777127 single base substitution G A upstream_gene_variant MELA-AU 7 27779701 27779702 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 27779701 27779702 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 27779714 27779714 single base substitution G A 5_prime_UTR_variant MELA-AU 7 27779714 27779714 single base substitution G A intron_variant MELA-AU 7 27779714 27779714 single base substitution G A upstream_gene_variant MELA-AU 7 27779715 27779715 single base substitution G A 5_prime_UTR_variant MELA-AU 7 27779715 27779715 single base substitution G A intron_variant MELA-AU 7 27779715 27779715 single base substitution G A upstream_gene_variant MELA-AU 7 27779718 27779718 single base substitution G A 5_prime_UTR_variant MELA-AU 7 27779718 27779718 single base substitution G A intron_variant MELA-AU 7 27779718 27779718 single base substitution G A upstream_gene_variant MELA-AU 7 27779720 27779720 single base substitution G A 5_prime_UTR_variant MELA-AU 7 27779720 27779720 single base substitution G A intron_variant MELA-AU 7 27779720 27779720 single base substitution G A upstream_gene_variant MELA-AU 7 27779736 27779736 single base substitution G A 5_prime_UTR_variant MELA-AU 7 27779736 27779736 single base substitution G A intron_variant MELA-AU 7 27779736 27779736 single base substitution G A upstream_gene_variant MELA-AU 7 27779745 27779745 single base substitution C A 5_prime_UTR_variant MELA-AU 7 27779745 27779745 single base substitution C A intron_variant MELA-AU 7 27779745 27779745 single base substitution C A upstream_gene_variant MELA-AU 7 27781415 27781415 single base substitution T G intron_variant MELA-AU 7 27781880 27781880 single base substitution C A intron_variant MELA-AU 7 27784401 27784401 single base substitution C T intron_variant MELA-AU 7 27786216 27786216 single base substitution C T intron_variant MELA-AU 7 27786942 27786942 single base substitution C T intron_variant MELA-AU 7 27787287 27787287 single base substitution G A intron_variant MELA-AU 7 27787796 27787796 single base substitution T C intron_variant MELA-AU 7 27788333 27788333 single base substitution C T intron_variant MELA-AU 7 27788559 27788559 single base substitution C T intron_variant MELA-AU 7 27789355 27789355 single base substitution C T intron_variant MELA-AU 7 27789421 27789421 single base substitution T C intron_variant MELA-AU 7 27789837 27789837 single base substitution G T intron_variant MELA-AU 7 27790530 27790531 deletion of <=200bp TC - intron_variant MELA-AU 7 27790732 27790732 single base substitution C T intron_variant MELA-AU 7 27791061 27791061 single base substitution T A intron_variant MELA-AU 7 27791446 27791446 single base substitution T A intron_variant MELA-AU 7 27791930 27791930 single base substitution G A intron_variant MELA-AU 7 27792457 27792457 single base substitution C T intron_variant MELA-AU 7 27794089 27794089 single base substitution C T intron_variant MELA-AU 7 27794139 27794139 single base substitution C T intron_variant MELA-AU 7 27794723 27794723 single base substitution C T intron_variant MELA-AU 7 27794846 27794846 single base substitution C T intron_variant MELA-AU 7 27795245 27795245 single base substitution C T intron_variant MELA-AU 7 27795271 27795271 single base substitution C T intron_variant MELA-AU 7 27795280 27795280 single base substitution C T intron_variant MELA-AU 7 27795730 27795730 single base substitution C T intron_variant MELA-AU 7 27795941 27795941 single base substitution C T intron_variant MELA-AU 7 27796242 27796242 single base substitution G A intron_variant MELA-AU 7 27796518 27796518 single base substitution C T intron_variant MELA-AU 7 27796681 27796681 single base substitution C T intron_variant MELA-AU 7 27796726 27796726 single base substitution C T intron_variant MELA-AU 7 27796933 27796933 single base substitution G T intron_variant MELA-AU 7 27799009 27799009 single base substitution C T downstream_gene_variant MELA-AU 7 27799009 27799009 single base substitution C T intron_variant MELA-AU 7 27799107 27799107 single base substitution C T downstream_gene_variant MELA-AU 7 27799107 27799107 single base substitution C T intron_variant MELA-AU 7 27799249 27799249 single base substitution C T downstream_gene_variant MELA-AU 7 27799249 27799249 single base substitution C T intron_variant MELA-AU 7 27800805 27800805 single base substitution T C downstream_gene_variant MELA-AU 7 27800805 27800805 single base substitution T C intron_variant MELA-AU 7 27801086 27801086 single base substitution C T downstream_gene_variant MELA-AU 7 27801086 27801086 single base substitution C T intron_variant MELA-AU 7 27801747 27801747 single base substitution C T downstream_gene_variant MELA-AU 7 27801747 27801747 single base substitution C T intron_variant MELA-AU 7 27802414 27802414 single base substitution C T downstream_gene_variant MELA-AU 7 27802414 27802414 single base substitution C T intron_variant MELA-AU 7 27802679 27802679 single base substitution C T downstream_gene_variant MELA-AU 7 27802679 27802679 single base substitution C T intron_variant MELA-AU 7 27803214 27803214 single base substitution C T intron_variant MELA-AU 7 27805751 27805751 single base substitution A T downstream_gene_variant MELA-AU 7 27805751 27805751 single base substitution A T intron_variant MELA-AU 7 27805751 27805751 single base substitution A T upstream_gene_variant MELA-AU 7 27805835 27805835 single base substitution C T downstream_gene_variant MELA-AU 7 27805835 27805835 single base substitution C T intron_variant MELA-AU 7 27805835 27805835 single base substitution C T upstream_gene_variant MELA-AU 7 27805933 27805934 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 27805933 27805934 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 27805933 27805934 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 27805936 27805936 single base substitution G A downstream_gene_variant MELA-AU 7 27805936 27805936 single base substitution G A intron_variant MELA-AU 7 27805936 27805936 single base substitution G A upstream_gene_variant MELA-AU 7 27805993 27805993 single base substitution C T downstream_gene_variant MELA-AU 7 27805993 27805993 single base substitution C T intron_variant MELA-AU 7 27805993 27805993 single base substitution C T upstream_gene_variant MELA-AU 7 27807140 27807140 single base substitution A G downstream_gene_variant MELA-AU 7 27807140 27807140 single base substitution A G intron_variant MELA-AU 7 27807140 27807140 single base substitution A G upstream_gene_variant MELA-AU 7 27807748 27807748 single base substitution A T downstream_gene_variant MELA-AU 7 27807748 27807748 single base substitution A T intron_variant MELA-AU 7 27807748 27807748 single base substitution A T upstream_gene_variant MELA-AU 7 27808125 27808125 single base substitution G A downstream_gene_variant MELA-AU 7 27808125 27808125 single base substitution G A intron_variant MELA-AU 7 27808125 27808125 single base substitution G A upstream_gene_variant MELA-AU 7 27809106 27809106 single base substitution A T downstream_gene_variant MELA-AU 7 27809106 27809106 single base substitution A T intron_variant MELA-AU 7 27809106 27809106 single base substitution A T upstream_gene_variant MELA-AU 7 27810696 27810696 single base substitution G A intron_variant MELA-AU 7 27810745 27810745 single base substitution T G intron_variant MELA-AU 7 27811669 27811669 single base substitution C T exon_variant MELA-AU 7 27811669 27811669 single base substitution C T intron_variant MELA-AU 7 27811929 27811929 single base substitution C T exon_variant MELA-AU 7 27811929 27811929 single base substitution C T intron_variant MELA-AU 7 27812971 27812971 single base substitution T C downstream_gene_variant MELA-AU 7 27812971 27812971 single base substitution T C intron_variant MELA-AU 7 27813021 27813021 single base substitution C T downstream_gene_variant MELA-AU 7 27813021 27813021 single base substitution C T intron_variant MELA-AU 7 27813548 27813548 single base substitution T A downstream_gene_variant MELA-AU 7 27813548 27813548 single base substitution T A intron_variant MELA-AU 7 27814259 27814259 single base substitution A G downstream_gene_variant MELA-AU 7 27814259 27814259 single base substitution A G intron_variant MELA-AU 7 27814407 27814407 single base substitution C T downstream_gene_variant MELA-AU 7 27814407 27814407 single base substitution C T intron_variant MELA-AU 7 27815909 27815909 single base substitution C T downstream_gene_variant MELA-AU 7 27815909 27815909 single base substitution C T intron_variant MELA-AU 7 27816093 27816093 single base substitution C T downstream_gene_variant MELA-AU 7 27816093 27816093 single base substitution C T intron_variant MELA-AU 7 27816144 27816144 single base substitution C T downstream_gene_variant MELA-AU 7 27816144 27816144 single base substitution C T intron_variant MELA-AU 7 27816553 27816553 single base substitution C T downstream_gene_variant MELA-AU 7 27816553 27816553 single base substitution C T intron_variant MELA-AU 7 27816818 27816818 single base substitution T A downstream_gene_variant MELA-AU 7 27816818 27816818 single base substitution T A intron_variant MELA-AU 7 27817115 27817115 single base substitution C T downstream_gene_variant MELA-AU 7 27817115 27817115 single base substitution C T intron_variant MELA-AU 7 27818259 27818259 single base substitution G A intron_variant MELA-AU 7 27818656 27818656 single base substitution T C intron_variant MELA-AU 7 27819970 27819970 single base substitution C T intron_variant MELA-AU 7 27820470 27820470 single base substitution C T intron_variant MELA-AU 7 27820530 27820530 single base substitution C T intron_variant MELA-AU 7 27820621 27820621 single base substitution C T intron_variant MELA-AU 7 27820705 27820705 single base substitution T C intron_variant MELA-AU 7 27821315 27821315 single base substitution T C intron_variant MELA-AU 7 27821592 27821592 single base substitution C T intron_variant MELA-AU 7 27821807 27821807 single base substitution C T intron_variant MELA-AU 7 27822114 27822115 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 27822437 27822437 single base substitution C T intron_variant MELA-AU 7 27823725 27823725 single base substitution C T intron_variant MELA-AU 7 27824708 27824708 single base substitution C G intron_variant MELA-AU 7 27824772 27824772 single base substitution C T intron_variant MELA-AU 7 27824960 27824960 single base substitution C T intron_variant MELA-AU 7 27825243 27825243 single base substitution C G intron_variant MELA-AU 7 27825685 27825685 single base substitution C G intron_variant MELA-AU 7 27825713 27825713 single base substitution C G intron_variant MELA-AU 7 27825819 27825819 single base substitution C T intron_variant MELA-AU 7 27826099 27826099 single base substitution C T intron_variant MELA-AU 7 27826169 27826169 single base substitution C T intron_variant MELA-AU 7 27826183 27826183 single base substitution T C intron_variant MELA-AU 7 27827266 27827266 single base substitution C T intron_variant MELA-AU 7 27829095 27829095 single base substitution C T intron_variant MELA-AU 7 27829095 27829095 single base substitution C T upstream_gene_variant MELA-AU 7 27829704 27829704 single base substitution C T intron_variant MELA-AU 7 27829704 27829704 single base substitution C T upstream_gene_variant MELA-AU 7 27829740 27829740 single base substitution A T intron_variant MELA-AU 7 27829740 27829740 single base substitution A T upstream_gene_variant MELA-AU 7 27831972 27831972 single base substitution C T intron_variant MELA-AU 7 27831972 27831972 single base substitution C T upstream_gene_variant MELA-AU 7 27831977 27831977 single base substitution C T intron_variant MELA-AU 7 27831977 27831977 single base substitution C T upstream_gene_variant MELA-AU 7 27832125 27832125 single base substitution C T intron_variant MELA-AU 7 27832125 27832125 single base substitution C T upstream_gene_variant MELA-AU 7 27832337 27832337 single base substitution T G intron_variant MELA-AU 7 27832337 27832337 single base substitution T G upstream_gene_variant MELA-AU 7 27832586 27832587 multiple base substitution (>=2bp and <=200bp) CA TT intron_variant MELA-AU 7 27832586 27832587 multiple base substitution (>=2bp and <=200bp) CA TT upstream_gene_variant MELA-AU 7 27832982 27832982 single base substitution T C intron_variant MELA-AU 7 27833084 27833084 single base substitution C T intron_variant MELA-AU 7 27834477 27834477 single base substitution C T intron_variant MELA-AU 7 27834733 27834733 single base substitution C T intron_variant MELA-AU 7 27835525 27835525 single base substitution A G intron_variant MELA-AU 7 27836592 27836592 single base substitution G A intron_variant MELA-AU 7 27837284 27837284 single base substitution C T intron_variant MELA-AU 7 27837332 27837332 single base substitution T C intron_variant MELA-AU 7 27837822 27837822 single base substitution C T intron_variant MELA-AU 7 27838166 27838166 single base substitution C T intron_variant MELA-AU 7 27838737 27838737 single base substitution C T intron_variant MELA-AU 7 27838951 27838951 single base substitution C T intron_variant MELA-AU 7 27840506 27840506 single base substitution G A intron_variant MELA-AU 7 27841029 27841029 single base substitution C T intron_variant MELA-AU 7 27841106 27841106 single base substitution G A intron_variant MELA-AU 7 27841496 27841496 single base substitution C T intron_variant MELA-AU 7 27841577 27841577 single base substitution C T intron_variant MELA-AU 7 27841626 27841626 single base substitution A G intron_variant MELA-AU 7 27842101 27842101 single base substitution A G intron_variant MELA-AU 7 27842849 27842849 single base substitution T G intron_variant MELA-AU 7 27843223 27843223 single base substitution T C intron_variant MELA-AU 7 27844973 27844973 single base substitution C T intron_variant MELA-AU 7 27844974 27844975 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 27845110 27845110 single base substitution T C intron_variant MELA-AU 7 27846244 27846244 single base substitution G A intron_variant MELA-AU 7 27846552 27846552 single base substitution A G intron_variant MELA-AU 7 27846571 27846571 single base substitution C T intron_variant MELA-AU 7 27846989 27846989 single base substitution G T intron_variant MELA-AU 7 27847153 27847153 single base substitution A G intron_variant MELA-AU 7 27847443 27847443 single base substitution C T intron_variant MELA-AU 7 27848360 27848360 single base substitution C T intron_variant MELA-AU 7 27848528 27848528 single base substitution C T intron_variant MELA-AU 7 27848578 27848579 deletion of <=200bp AA - intron_variant MELA-AU 7 27849144 27849144 single base substitution C A intron_variant MELA-AU 7 27849926 27849926 single base substitution C T intron_variant MELA-AU 7 27849969 27849969 single base substitution A T intron_variant MELA-AU 7 27850586 27850586 single base substitution C T intron_variant MELA-AU 7 27850625 27850625 single base substitution G A intron_variant MELA-AU 7 27850671 27850671 single base substitution C G intron_variant MELA-AU 7 27851340 27851340 single base substitution C T intron_variant MELA-AU 7 27851394 27851394 single base substitution C T intron_variant MELA-AU 7 27851640 27851640 single base substitution G A intron_variant MELA-AU 7 27851823 27851823 single base substitution A G intron_variant MELA-AU 7 27852915 27852915 single base substitution T C intron_variant MELA-AU 7 27853653 27853653 single base substitution G A intron_variant MELA-AU 7 27854737 27854737 single base substitution C T intron_variant MELA-AU 7 27854807 27854807 single base substitution C A intron_variant MELA-AU 7 27856298 27856298 single base substitution T C intron_variant MELA-AU 7 27856737 27856737 single base substitution A T intron_variant MELA-AU 7 27857285 27857285 single base substitution T A intron_variant MELA-AU 7 27857325 27857325 single base substitution C T intron_variant MELA-AU 7 27859279 27859279 single base substitution G A intron_variant MELA-AU 7 27859778 27859778 single base substitution C A intron_variant MELA-AU 7 27859970 27859970 single base substitution T C intron_variant MELA-AU 7 27860669 27860669 single base substitution C T intron_variant MELA-AU 7 27861140 27861140 single base substitution G T intron_variant MELA-AU 7 27862329 27862329 single base substitution A G intron_variant MELA-AU 7 27863412 27863412 single base substitution C T intron_variant MELA-AU 7 27863412 27863412 single base substitution C T upstream_gene_variant MELA-AU 7 27863989 27863989 single base substitution C T intron_variant MELA-AU 7 27863989 27863989 single base substitution C T upstream_gene_variant MELA-AU 7 27866746 27866746 single base substitution G A intron_variant MELA-AU 7 27866746 27866746 single base substitution G A upstream_gene_variant MELA-AU 7 27867084 27867084 single base substitution A G intron_variant MELA-AU 7 27867084 27867084 single base substitution A G upstream_gene_variant MELA-AU 7 27867209 27867209 single base substitution T G intron_variant MELA-AU 7 27867209 27867209 single base substitution T G upstream_gene_variant MELA-AU 7 27867621 27867621 single base substitution G A intron_variant MELA-AU 7 27867621 27867621 single base substitution G A upstream_gene_variant MELA-AU 7 27867695 27867695 single base substitution C T intron_variant MELA-AU 7 27867695 27867695 single base substitution C T upstream_gene_variant MELA-AU 7 27868357 27868357 single base substitution G A 3_prime_UTR_variant MELA-AU 7 27868357 27868357 single base substitution G A exon_variant MELA-AU 7 27868357 27868357 single base substitution G A missense_variant C297Y 890G>A MELA-AU 7 27868357 27868357 single base substitution G A missense_variant C44Y 131G>A MELA-AU 7 27868357 27868357 single base substitution G A missense_variant C561Y 1682G>A MELA-AU 7 27868357 27868357 single base substitution G A missense_variant C718Y 2153G>A MELA-AU 7 27868357 27868357 single base substitution G A missense_variant C760Y 2279G>A MELA-AU 7 27868357 27868357 single base substitution G A missense_variant C784Y 2351G>A MELA-AU 7 27870612 27870612 single base substitution C T downstream_gene_variant MELA-AU 7 27870612 27870612 single base substitution C T intron_variant MELA-AU 7 27871317 27871317 single base substitution C T downstream_gene_variant MELA-AU 7 27871317 27871317 single base substitution C T intron_variant MELA-AU 7 27872661 27872661 single base substitution C T downstream_gene_variant MELA-AU 7 27872661 27872661 single base substitution C T exon_variant MELA-AU 7 27872661 27872661 single base substitution C T intron_variant MELA-AU 7 27873340 27873340 single base substitution C T downstream_gene_variant MELA-AU 7 27873340 27873340 single base substitution C T intron_variant MELA-AU 7 27873416 27873416 single base substitution C T downstream_gene_variant MELA-AU 7 27873416 27873416 single base substitution C T intron_variant MELA-AU 7 27873782 27873782 single base substitution C T downstream_gene_variant MELA-AU 7 27873782 27873782 single base substitution C T intron_variant MELA-AU 7 27874073 27874073 single base substitution G T downstream_gene_variant MELA-AU 7 27874073 27874073 single base substitution G T intron_variant MELA-AU 7 27874704 27874704 single base substitution A T downstream_gene_variant MELA-AU 7 27874704 27874704 single base substitution A T intron_variant MELA-AU 7 27876491 27876491 single base substitution G A downstream_gene_variant MELA-AU 7 27876491 27876491 single base substitution G A intron_variant MELA-AU 7 27877381 27877381 single base substitution G C downstream_gene_variant MELA-AU 7 27877381 27877381 single base substitution G C intron_variant MELA-AU 7 27877826 27877826 single base substitution C T intron_variant MELA-AU 7 27878071 27878071 single base substitution G A intron_variant MELA-AU 7 27878183 27878183 single base substitution A G intron_variant MELA-AU 7 27878877 27878877 single base substitution T A intron_variant MELA-AU 7 27880360 27880360 single base substitution T C missense_variant L66P 197T>C MELA-AU 7 27881273 27881273 single base substitution G A 3_prime_UTR_variant MELA-AU 7 27881371 27881371 single base substitution G A 3_prime_UTR_variant MELA-AU 7 27882507 27882507 single base substitution G A 3_prime_UTR_variant MELA-AU 7 27882942 27882942 single base substitution G A 3_prime_UTR_variant MELA-AU 7 27883733 27883733 single base substitution G A 3_prime_UTR_variant MELA-AU 7 27884307 27884307 single base substitution G A downstream_gene_variant MELA-AU 7 27884472 27884472 single base substitution G A downstream_gene_variant MELA-AU 7 27884486 27884486 single base substitution G A downstream_gene_variant MELA-AU 7 27884498 27884498 single base substitution G A downstream_gene_variant MELA-AU 7 27885636 27885636 single base substitution C T downstream_gene_variant MELA-AU 7 27886008 27886008 single base substitution A G downstream_gene_variant MELA-AU 7 27886011 27886011 single base substitution C T downstream_gene_variant MELA-AU 7 27887385 27887385 single base substitution C T downstream_gene_variant MELA-AU 7 27887422 27887422 single base substitution G A downstream_gene_variant MELA-AU 7 27887470 27887470 single base substitution G A downstream_gene_variant MELA-AU 7 27887743 27887743 single base substitution T C downstream_gene_variant MELA-AU 7 27887785 27887785 single base substitution A G downstream_gene_variant MELA-AU 7 27888580 27888581 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 27888651 27888651 single base substitution G A downstream_gene_variant ORCA-IN 7 27778053 27778053 single base substitution C T upstream_gene_variant ORCA-IN 7 27784731 27784731 single base substitution G A intron_variant ORCA-IN 7 27805448 27805448 single base substitution C T intron_variant ORCA-IN 7 27805448 27805448 single base substitution C T splice_region_variant ORCA-IN 7 27805448 27805448 single base substitution C T upstream_gene_variant ORCA-IN 7 27820856 27820856 single base substitution C T intron_variant ORCA-IN 7 27832784 27832784 single base substitution G A 3_prime_UTR_variant ORCA-IN 7 27832784 27832784 single base substitution G A missense_variant E10K 28G>A ORCA-IN 7 27832784 27832784 single base substitution G A missense_variant E298K 892G>A ORCA-IN 7 27832784 27832784 single base substitution G A missense_variant E455K 1363G>A ORCA-IN 7 27841627 27841627 single base substitution G A intron_variant ORCA-IN 7 27858751 27858751 single base substitution A C intron_variant ORCA-IN 7 27864763 27864763 single base substitution G C intron_variant ORCA-IN 7 27864763 27864763 single base substitution G C upstream_gene_variant OV-AU 7 27777689 27777689 single base substitution G T upstream_gene_variant OV-AU 7 27792712 27792712 single base substitution A C intron_variant OV-AU 7 27793993 27793993 single base substitution T A intron_variant OV-AU 7 27802750 27802750 single base substitution G C downstream_gene_variant OV-AU 7 27802750 27802750 single base substitution G C intron_variant OV-AU 7 27802932 27802932 single base substitution A T downstream_gene_variant OV-AU 7 27802932 27802932 single base substitution A T intron_variant OV-AU 7 27817916 27817916 single base substitution T C intron_variant OV-AU 7 27824977 27824977 single base substitution C A intron_variant OV-AU 7 27826058 27826058 single base substitution T C intron_variant OV-AU 7 27829067 27829067 single base substitution C G intron_variant OV-AU 7 27829067 27829067 single base substitution C G upstream_gene_variant OV-AU 7 27829821 27829821 single base substitution C T intron_variant OV-AU 7 27829821 27829821 single base substitution C T upstream_gene_variant OV-AU 7 27832251 27832251 single base substitution C G intron_variant OV-AU 7 27832251 27832251 single base substitution C G upstream_gene_variant OV-AU 7 27837951 27837951 single base substitution G T intron_variant OV-AU 7 27847488 27847488 single base substitution T C intron_variant OV-AU 7 27854235 27854235 single base substitution A G intron_variant OV-AU 7 27869293 27869293 single base substitution C G downstream_gene_variant OV-AU 7 27869293 27869293 single base substitution C G intron_variant OV-AU 7 27880552 27880552 single base substitution C T missense_variant T130I 389C>T OV-AU 7 27882421 27882421 single base substitution G T 3_prime_UTR_variant PACA-AU 7 27774148 27774148 insertion of <=200bp - A upstream_gene_variant PACA-AU 7 27787107 27787108 deletion of <=200bp AA - intron_variant PACA-AU 7 27792154 27792154 single base substitution G T intron_variant PACA-AU 7 27792155 27792155 single base substitution G A intron_variant PACA-AU 7 27792912 27792912 single base substitution C T intron_variant PACA-AU 7 27793641 27793641 single base substitution T G intron_variant PACA-AU 7 27799472 27799472 single base substitution A T downstream_gene_variant PACA-AU 7 27799472 27799472 single base substitution A T intron_variant PACA-AU 7 27800685 27800685 deletion of <=200bp T - downstream_gene_variant PACA-AU 7 27800685 27800685 deletion of <=200bp T - intron_variant PACA-AU 7 27801126 27801126 deletion of <=200bp A - downstream_gene_variant PACA-AU 7 27801126 27801126 deletion of <=200bp A - intron_variant PACA-AU 7 27801386 27801432 deletion of <=200bp AAATAATGCTGCAATAAACACTCTTGTGCAAGTTTTTGTGTGGATGT - downstream_gene_variant PACA-AU 7 27801386 27801432 deletion of <=200bp AAATAATGCTGCAATAAACACTCTTGTGCAAGTTTTTGTGTGGATGT - intron_variant PACA-AU 7 27806453 27806453 single base substitution G A downstream_gene_variant PACA-AU 7 27806453 27806453 single base substitution G A intron_variant PACA-AU 7 27806453 27806453 single base substitution G A upstream_gene_variant PACA-AU 7 27808528 27808528 single base substitution A G downstream_gene_variant PACA-AU 7 27808528 27808528 single base substitution A G intron_variant PACA-AU 7 27808528 27808528 single base substitution A G upstream_gene_variant PACA-AU 7 27813488 27813488 single base substitution T G downstream_gene_variant PACA-AU 7 27813488 27813488 single base substitution T G intron_variant PACA-AU 7 27813564 27813564 single base substitution T A downstream_gene_variant PACA-AU 7 27813564 27813564 single base substitution T A intron_variant PACA-AU 7 27814216 27814216 single base substitution G A downstream_gene_variant PACA-AU 7 27814216 27814216 single base substitution G A intron_variant PACA-AU 7 27815006 27815006 single base substitution A G downstream_gene_variant PACA-AU 7 27815006 27815006 single base substitution A G intron_variant PACA-AU 7 27815139 27815139 single base substitution A T downstream_gene_variant PACA-AU 7 27815139 27815139 single base substitution A T intron_variant PACA-AU 7 27815197 27815197 single base substitution T A downstream_gene_variant PACA-AU 7 27815197 27815197 single base substitution T A intron_variant PACA-AU 7 27820835 27820835 single base substitution C T intron_variant PACA-AU 7 27824049 27824049 single base substitution T G intron_variant PACA-AU 7 27824793 27824793 single base substitution A G 3_prime_UTR_variant PACA-AU 7 27824793 27824793 single base substitution A G synonymous_variant E208E 624A>G PACA-AU 7 27824793 27824793 single base substitution A G synonymous_variant E51E 153A>G PACA-AU 7 27825893 27825893 single base substitution G A intron_variant PACA-AU 7 27830910 27830910 single base substitution T A intron_variant PACA-AU 7 27830910 27830910 single base substitution T A upstream_gene_variant PACA-AU 7 27842667 27842667 single base substitution A C intron_variant PACA-AU 7 27844967 27844967 single base substitution A G intron_variant PACA-AU 7 27846692 27846692 single base substitution T G intron_variant PACA-AU 7 27848008 27848008 single base substitution C G intron_variant PACA-AU 7 27851584 27851584 single base substitution C T intron_variant PACA-AU 7 27860129 27860129 single base substitution A G intron_variant PACA-AU 7 27860631 27860631 single base substitution C G intron_variant PACA-AU 7 27861515 27861515 single base substitution G A intron_variant PACA-AU 7 27876561 27876561 insertion of <=200bp - T downstream_gene_variant PACA-AU 7 27876561 27876561 insertion of <=200bp - T intron_variant PACA-AU 7 27880226 27880226 single base substitution G A intron_variant PACA-AU 7 27884067 27884067 single base substitution G A 3_prime_UTR_variant PACA-AU 7 27886673 27886673 single base substitution C T downstream_gene_variant PACA-AU 7 27888830 27888830 single base substitution G A downstream_gene_variant PACA-CA 7 27779513 27779513 single base substitution T C intron_variant PACA-CA 7 27779513 27779513 single base substitution T C upstream_gene_variant PACA-CA 7 27779867 27779867 single base substitution G T 5_prime_UTR_variant PACA-CA 7 27779867 27779867 single base substitution G T exon_variant PACA-CA 7 27779867 27779867 single base substitution G T intron_variant PACA-CA 7 27787498 27787498 single base substitution A T intron_variant PACA-CA 7 27789882 27789905 deletion of <=200bp AAAATCTAAAATCTGAAATGCTTT - intron_variant PACA-CA 7 27804585 27804585 single base substitution C G intron_variant PACA-CA 7 27804585 27804585 single base substitution C G upstream_gene_variant PACA-CA 7 27807633 27807633 single base substitution C A downstream_gene_variant PACA-CA 7 27807633 27807633 single base substitution C A intron_variant PACA-CA 7 27807633 27807633 single base substitution C A upstream_gene_variant PACA-CA 7 27807864 27807864 single base substitution C T downstream_gene_variant PACA-CA 7 27807864 27807864 single base substitution C T intron_variant PACA-CA 7 27807864 27807864 single base substitution C T upstream_gene_variant PACA-CA 7 27812343 27812343 single base substitution C G downstream_gene_variant PACA-CA 7 27812343 27812343 single base substitution C G intron_variant PACA-CA 7 27812892 27812892 single base substitution T A downstream_gene_variant PACA-CA 7 27812892 27812892 single base substitution T A intron_variant PACA-CA 7 27815212 27815212 single base substitution G C downstream_gene_variant PACA-CA 7 27815212 27815212 single base substitution G C intron_variant PACA-CA 7 27825610 27825610 insertion of <=200bp - AT intron_variant PACA-CA 7 27826528 27826528 single base substitution A C intron_variant PACA-CA 7 27832216 27832216 single base substitution G T intron_variant PACA-CA 7 27832216 27832216 single base substitution G T upstream_gene_variant PACA-CA 7 27835613 27835613 single base substitution C A intron_variant PACA-CA 7 27840230 27840230 insertion of <=200bp - T intron_variant PACA-CA 7 27841484 27841485 deletion of <=200bp TG - intron_variant PACA-CA 7 27842016 27842016 single base substitution G T intron_variant PACA-CA 7 27845854 27845854 single base substitution G A intron_variant PACA-CA 7 27846048 27846048 single base substitution C T intron_variant PACA-CA 7 27846765 27846765 single base substitution C G intron_variant PACA-CA 7 27847432 27847432 single base substitution T G intron_variant PACA-CA 7 27849636 27849642 deletion of <=200bp CCTGCTG - intron_variant PACA-CA 7 27853133 27853133 single base substitution C T intron_variant PACA-CA 7 27854073 27854073 insertion of <=200bp - G intron_variant PACA-CA 7 27856496 27856496 single base substitution A T intron_variant PACA-CA 7 27858123 27858123 single base substitution C A intron_variant PACA-CA 7 27860529 27860529 single base substitution C T intron_variant PACA-CA 7 27876446 27876446 single base substitution C T downstream_gene_variant PACA-CA 7 27876446 27876446 single base substitution C T intron_variant PACA-CA 7 27877702 27877702 single base substitution C G downstream_gene_variant PACA-CA 7 27877702 27877702 single base substitution C G intron_variant PACA-CA 7 27878624 27878624 single base substitution G A intron_variant PACA-CA 7 27887710 27887710 single base substitution C T downstream_gene_variant PAEN-AU 7 27803853 27803853 single base substitution C A intron_variant PAEN-AU 7 27828173 27828173 single base substitution C T intron_variant PAEN-AU 7 27828173 27828173 single base substitution C T upstream_gene_variant PAEN-AU 7 27837586 27837586 single base substitution A G intron_variant PAEN-IT 7 27827783 27827783 single base substitution G T intron_variant PAEN-IT 7 27827783 27827783 single base substitution G T upstream_gene_variant PAEN-IT 7 27863328 27863328 single base substitution C T intron_variant PAEN-IT 7 27863328 27863328 single base substitution C T upstream_gene_variant PAEN-IT 7 27884707 27884707 single base substitution A T downstream_gene_variant PBCA-DE 7 27780589 27780590 deletion of <=200bp GC - intron_variant PBCA-DE 7 27789545 27789545 single base substitution G A intron_variant PBCA-DE 7 27801452 27801452 single base substitution G C downstream_gene_variant PBCA-DE 7 27801452 27801452 single base substitution G C intron_variant PBCA-DE 7 27809579 27809579 single base substitution C T downstream_gene_variant PBCA-DE 7 27809579 27809579 single base substitution C T intron_variant PBCA-DE 7 27814257 27814257 single base substitution A G downstream_gene_variant PBCA-DE 7 27814257 27814257 single base substitution A G intron_variant PBCA-DE 7 27826349 27826349 single base substitution T C intron_variant PBCA-DE 7 27841113 27841113 single base substitution T G intron_variant PBCA-DE 7 27879445 27879445 insertion of <=200bp - T intron_variant PBCA-DE 7 27882979 27882979 single base substitution G T 3_prime_UTR_variant PRAD-CA 7 27786006 27786006 single base substitution C T intron_variant PRAD-CA 7 27787368 27787368 single base substitution A G intron_variant PRAD-CA 7 27866698 27866698 single base substitution C G intron_variant PRAD-CA 7 27866698 27866698 single base substitution C G upstream_gene_variant PRAD-CA 7 27868710 27868710 single base substitution G C 3_prime_UTR_variant PRAD-CA 7 27868710 27868710 single base substitution G C downstream_gene_variant PRAD-CA 7 27868710 27868710 single base substitution G C intron_variant PRAD-CA 7 27886024 27886024 single base substitution A G downstream_gene_variant PRAD-UK 7 27774852 27774852 single base substitution T G upstream_gene_variant PRAD-UK 7 27778297 27778297 single base substitution T A upstream_gene_variant PRAD-UK 7 27801749 27801753 deletion of <=200bp TTCTG - downstream_gene_variant PRAD-UK 7 27801749 27801753 deletion of <=200bp TTCTG - intron_variant PRAD-UK 7 27817948 27817948 single base substitution T C intron_variant PRAD-UK 7 27843408 27843408 single base substitution A T intron_variant PRAD-UK 7 27854074 27854074 insertion of <=200bp - G intron_variant PRAD-UK 7 27869714 27869714 single base substitution T G downstream_gene_variant PRAD-UK 7 27869714 27869714 single base substitution T G intron_variant PRAD-UK 7 27888470 27888470 single base substitution T G downstream_gene_variant RECA-EU 7 27797031 27797031 single base substitution A C intron_variant RECA-EU 7 27809809 27809809 single base substitution A T downstream_gene_variant RECA-EU 7 27809809 27809809 single base substitution A T intron_variant RECA-EU 7 27819797 27819797 single base substitution A T intron_variant RECA-EU 7 27829398 27829398 single base substitution C T intron_variant RECA-EU 7 27829398 27829398 single base substitution C T upstream_gene_variant RECA-EU 7 27833647 27833647 single base substitution T G intron_variant RECA-EU 7 27845372 27845372 single base substitution T G intron_variant RECA-EU 7 27847551 27847551 single base substitution T C intron_variant RECA-EU 7 27849467 27849467 single base substitution T C intron_variant RECA-EU 7 27849776 27849776 single base substitution T G intron_variant RECA-EU 7 27851047 27851047 single base substitution C T intron_variant RECA-EU 7 27851061 27851061 single base substitution T G intron_variant RECA-EU 7 27862570 27862570 single base substitution T G intron_variant RECA-EU 7 27862570 27862570 single base substitution T G upstream_gene_variant RECA-EU 7 27874434 27874434 single base substitution C T downstream_gene_variant RECA-EU 7 27874434 27874434 single base substitution C T intron_variant RECA-EU 7 27878631 27878631 single base substitution G A intron_variant RECA-EU 7 27880974 27880974 single base substitution T A 3_prime_UTR_variant RECA-EU 7 27882718 27882718 single base substitution T A 3_prime_UTR_variant SKCA-BR 7 27775955 27775955 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 7 27779718 27779718 single base substitution G A 5_prime_UTR_variant SKCA-BR 7 27779718 27779718 single base substitution G A intron_variant SKCA-BR 7 27779718 27779718 single base substitution G A upstream_gene_variant SKCA-BR 7 27780506 27780506 single base substitution A C intron_variant SKCA-BR 7 27780552 27780552 single base substitution C T intron_variant SKCA-BR 7 27785993 27785993 insertion of <=200bp - GT intron_variant SKCA-BR 7 27787547 27787547 single base substitution C T intron_variant SKCA-BR 7 27792981 27792981 single base substitution T C intron_variant SKCA-BR 7 27796444 27796444 single base substitution C T intron_variant SKCA-BR 7 27798458 27798458 single base substitution T A downstream_gene_variant SKCA-BR 7 27798458 27798458 single base substitution T A intron_variant SKCA-BR 7 27798511 27798511 single base substitution T A downstream_gene_variant SKCA-BR 7 27798511 27798511 single base substitution T A intron_variant SKCA-BR 7 27801460 27801460 single base substitution C T downstream_gene_variant SKCA-BR 7 27801460 27801460 single base substitution C T intron_variant SKCA-BR 7 27801922 27801922 single base substitution C T downstream_gene_variant SKCA-BR 7 27801922 27801922 single base substitution C T intron_variant SKCA-BR 7 27806558 27806558 single base substitution T C downstream_gene_variant SKCA-BR 7 27806558 27806558 single base substitution T C intron_variant SKCA-BR 7 27806558 27806558 single base substitution T C upstream_gene_variant SKCA-BR 7 27807096 27807096 single base substitution C T downstream_gene_variant SKCA-BR 7 27807096 27807096 single base substitution C T intron_variant SKCA-BR 7 27807096 27807096 single base substitution C T upstream_gene_variant SKCA-BR 7 27807441 27807441 single base substitution G A downstream_gene_variant SKCA-BR 7 27807441 27807441 single base substitution G A intron_variant SKCA-BR 7 27807441 27807441 single base substitution G A upstream_gene_variant SKCA-BR 7 27808726 27808759 deletion of <=200bp CTAAAATTTGTATTTTTACTTATGAAGAGTGTTT - downstream_gene_variant SKCA-BR 7 27808726 27808759 deletion of <=200bp CTAAAATTTGTATTTTTACTTATGAAGAGTGTTT - intron_variant SKCA-BR 7 27808726 27808759 deletion of <=200bp CTAAAATTTGTATTTTTACTTATGAAGAGTGTTT - upstream_gene_variant SKCA-BR 7 27811771 27811771 insertion of <=200bp - GT exon_variant SKCA-BR 7 27811771 27811771 insertion of <=200bp - GT intron_variant SKCA-BR 7 27815586 27815586 single base substitution C T downstream_gene_variant SKCA-BR 7 27815586 27815586 single base substitution C T intron_variant SKCA-BR 7 27826605 27826605 single base substitution C T intron_variant SKCA-BR 7 27831250 27831250 single base substitution G A intron_variant SKCA-BR 7 27831250 27831250 single base substitution G A upstream_gene_variant SKCA-BR 7 27831655 27831655 single base substitution C T 3_prime_UTR_variant SKCA-BR 7 27831655 27831655 single base substitution C T missense_variant R200C 598C>T SKCA-BR 7 27831655 27831655 single base substitution C T missense_variant R357C 1069C>T SKCA-BR 7 27831655 27831655 single base substitution C T upstream_gene_variant SKCA-BR 7 27840309 27840309 single base substitution T G intron_variant SKCA-BR 7 27843474 27843474 single base substitution T A intron_variant SKCA-BR 7 27844435 27844435 single base substitution A G intron_variant SKCA-BR 7 27845879 27845879 single base substitution A T intron_variant SKCA-BR 7 27845999 27845999 insertion of <=200bp - GT intron_variant SKCA-BR 7 27850960 27850960 single base substitution T G intron_variant SKCA-BR 7 27851204 27851204 insertion of <=200bp - AT intron_variant SKCA-BR 7 27851486 27851486 single base substitution C T intron_variant SKCA-BR 7 27852787 27852787 single base substitution C T intron_variant SKCA-BR 7 27853966 27853966 insertion of <=200bp - CTATT intron_variant SKCA-BR 7 27858681 27858681 single base substitution C T intron_variant SKCA-BR 7 27859801 27859801 single base substitution T G intron_variant SKCA-BR 7 27873190 27873190 single base substitution T C downstream_gene_variant SKCA-BR 7 27873190 27873190 single base substitution T C intron_variant SKCA-BR 7 27876569 27876569 insertion of <=200bp - TAC downstream_gene_variant SKCA-BR 7 27876569 27876569 insertion of <=200bp - TAC intron_variant SKCA-BR 7 27886011 27886011 insertion of <=200bp - CATATACGTATACGTGTAT downstream_gene_variant SKCM-US 7 27788253 27788253 single base substitution C T 5_prime_UTR_variant SKCM-US 7 27788253 27788253 single base substitution C T exon_variant SKCM-US 7 27788253 27788253 single base substitution C T missense_variant T37I 110C>T SKCM-US 7 27831771 27831771 single base substitution C T 3_prime_UTR_variant SKCM-US 7 27831771 27831771 single base substitution C T synonymous_variant R238R 714C>T SKCM-US 7 27831771 27831771 single base substitution C T synonymous_variant R395R 1185C>T SKCM-US 7 27831771 27831771 single base substitution C T upstream_gene_variant SKCM-US 7 27880369 27880369 single base substitution C T missense_variant P69L 206C>T SKCM-US 7 27880461 27880461 single base substitution C T missense_variant H100Y 298C>T STAD-US 7 27805503 27805503 single base substitution A G downstream_gene_variant STAD-US 7 27805503 27805503 single base substitution A G intron_variant STAD-US 7 27805503 27805503 single base substitution A G missense_variant T106A 316A>G STAD-US 7 27805503 27805503 single base substitution A G upstream_gene_variant STAD-US 7 27824919 27824919 single base substitution C T 3_prime_UTR_variant STAD-US 7 27824919 27824919 single base substitution C T synonymous_variant T250T 750C>T STAD-US 7 27824919 27824919 single base substitution C T synonymous_variant T93T 279C>T STAD-US 7 27825103 27825103 single base substitution T C 3_prime_UTR_variant STAD-US 7 27825103 27825103 single base substitution T C missense_variant Y126H 376T>C STAD-US 7 27825103 27825103 single base substitution T C missense_variant Y283H 847T>C STAD-US 7 27831686 27831686 single base substitution G A 3_prime_UTR_variant STAD-US 7 27831686 27831686 single base substitution G A missense_variant R210Q 629G>A STAD-US 7 27831686 27831686 single base substitution G A missense_variant R367Q 1100G>A STAD-US 7 27831686 27831686 single base substitution G A upstream_gene_variant STAD-US 7 27831706 27831706 single base substitution G A 3_prime_UTR_variant STAD-US 7 27831706 27831706 single base substitution G A missense_variant A217T 649G>A STAD-US 7 27831706 27831706 single base substitution G A missense_variant A374T 1120G>A STAD-US 7 27831706 27831706 single base substitution G A upstream_gene_variant STAD-US 7 27832693 27832693 single base substitution T C 3_prime_UTR_variant STAD-US 7 27832693 27832693 single base substitution T C synonymous_variant T267T 801T>C STAD-US 7 27832693 27832693 single base substitution T C synonymous_variant T424T 1272T>C STAD-US 7 27832693 27832693 single base substitution T C upstream_gene_variant STAD-US 7 27832746 27832746 single base substitution T G 3_prime_UTR_variant STAD-US 7 27832746 27832746 single base substitution T G missense_variant L285R 854T>G STAD-US 7 27832746 27832746 single base substitution T G missense_variant L442R 1325T>G STAD-US 7 27832746 27832746 single base substitution T G upstream_gene_variant STAD-US 7 27839705 27839705 single base substitution A G 3_prime_UTR_variant STAD-US 7 27839705 27839705 single base substitution A G missense_variant Y142C 425A>G STAD-US 7 27839705 27839705 single base substitution A G missense_variant Y430C 1289A>G STAD-US 7 27839705 27839705 single base substitution A G missense_variant Y587C 1760A>G STAD-US 7 27839705 27839705 single base substitution A T 3_prime_UTR_variant STAD-US 7 27839705 27839705 single base substitution A T missense_variant Y142F 425A>T STAD-US 7 27839705 27839705 single base substitution A T missense_variant Y430F 1289A>T STAD-US 7 27839705 27839705 single base substitution A T missense_variant Y587F 1760A>T STAD-US 7 27855995 27855995 single base substitution G A 3_prime_UTR_variant STAD-US 7 27855995 27855995 single base substitution G A missense_variant A177T 529G>A STAD-US 7 27855995 27855995 single base substitution G A missense_variant A441T 1321G>A STAD-US 7 27855995 27855995 single base substitution G A missense_variant A598T 1792G>A STAD-US 7 27855995 27855995 single base substitution G A missense_variant A622T 1864G>A STAD-US 7 27868391 27868391 single base substitution G A 3_prime_UTR_variant STAD-US 7 27868391 27868391 single base substitution G A exon_variant STAD-US 7 27868391 27868391 single base substitution G A synonymous_variant Q308Q 924G>A STAD-US 7 27868391 27868391 single base substitution G A synonymous_variant Q55Q 165G>A STAD-US 7 27868391 27868391 single base substitution G A synonymous_variant Q572Q 1716G>A STAD-US 7 27868391 27868391 single base substitution G A synonymous_variant Q729Q 2187G>A STAD-US 7 27868391 27868391 single base substitution G A synonymous_variant Q771Q 2313G>A STAD-US 7 27868391 27868391 single base substitution G A synonymous_variant Q795Q 2385G>A STAD-US 7 27872467 27872470 deletion of <=200bp ATTG - downstream_gene_variant STAD-US 7 27872467 27872470 deletion of <=200bp ATTG - exon_variant STAD-US 7 27872467 27872470 deletion of <=200bp ATTG - intron_variant STAD-US 7 27880399 27880399 single base substitution G A missense_variant G79D 236G>A THCA-US 7 27856087 27856087 single base substitution T A intron_variant THCA-US 7 27856087 27856087 single base substitution T A missense_variant N628K 1884T>A THCA-US 7 27856087 27856087 single base substitution T A missense_variant N652K 1956T>A THCA-US 7 27856612 27856612 single base substitution A T 3_prime_UTR_variant THCA-US 7 27856612 27856612 single base substitution A T synonymous_variant R217R 651A>T THCA-US 7 27856612 27856612 single base substitution A T synonymous_variant R481R 1443A>T THCA-US 7 27856612 27856612 single base substitution A T synonymous_variant R638R 1914A>T THCA-US 7 27856612 27856612 single base substitution A T synonymous_variant R680R 2040A>T THCA-US 7 27856612 27856612 single base substitution A T synonymous_variant R704R 2112A>T UCEC-US 7 27788285 27788285 single base substitution G T 5_prime_UTR_variant UCEC-US 7 27788285 27788285 single base substitution G T exon_variant UCEC-US 7 27788285 27788285 single base substitution G T missense_variant D48Y 142G>T UCEC-US 7 27797748 27797748 single base substitution C A 5_prime_UTR_variant UCEC-US 7 27797748 27797748 single base substitution C A exon_variant UCEC-US 7 27797748 27797748 single base substitution C A missense_variant F87L 261C>A UCEC-US 7 27809446 27809446 single base substitution A G 3_prime_UTR_variant UCEC-US 7 27809446 27809446 single base substitution A G downstream_gene_variant UCEC-US 7 27809446 27809446 single base substitution A G exon_variant UCEC-US 7 27809446 27809446 single base substitution A G missense_variant E202G 605A>G UCEC-US 7 27809446 27809446 single base substitution A G missense_variant E45G 134A>G UCEC-US 7 27827194 27827194 single base substitution G T 3_prime_UTR_variant UCEC-US 7 27827194 27827194 single base substitution G T missense_variant R180I 539G>T UCEC-US 7 27827194 27827194 single base substitution G T missense_variant R337I 1010G>T UCEC-US 7 27831733 27831733 single base substitution G T 3_prime_UTR_variant UCEC-US 7 27831733 27831733 single base substitution G T missense_variant V226L 676G>T UCEC-US 7 27831733 27831733 single base substitution G T missense_variant V383L 1147G>T UCEC-US 7 27831733 27831733 single base substitution G T upstream_gene_variant UCEC-US 7 27832691 27832691 single base substitution A C 3_prime_UTR_variant UCEC-US 7 27832691 27832691 single base substitution A C missense_variant T267P 799A>C UCEC-US 7 27832691 27832691 single base substitution A C missense_variant T424P 1270A>C UCEC-US 7 27832691 27832691 single base substitution A C upstream_gene_variant UCEC-US 7 27832800 27832800 single base substitution A G 3_prime_UTR_variant UCEC-US 7 27832800 27832800 single base substitution A G missense_variant Q15R 44A>G UCEC-US 7 27832800 27832800 single base substitution A G missense_variant Q303R 908A>G UCEC-US 7 27832800 27832800 single base substitution A G missense_variant Q460R 1379A>G UCEC-US 7 27856094 27856094 single base substitution C T intron_variant UCEC-US 7 27856094 27856094 single base substitution C T missense_variant P631S 1891C>T UCEC-US 7 27856094 27856094 single base substitution C T missense_variant P655S 1963C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HCT15 COSM3027543 c.984T>C p.C328C Substitution - coding silent 7:27787549-27787549 + 258 COSM3732471 c.361C>T p.R121* Substitution - Nonsense 7:27765929-27765929 + TCGA-85-6561-01 COSM746287 c.2284G>T p.E762* Substitution - Nonsense 7:27828743-27828743 + TCGA-AZ-6598-01 COSM1450226 c.1691T>C p.L564P Substitution - Missense 7:27800017-27800017 + TCGA-AP-A056-01 COSM1088921 c.1379A>G p.Q460R Substitution - Missense 7:27793181-27793181 + pfg008T COSM1643320 c.924T>C p.D308D Substitution - coding silent 7:27787489-27787489 + YUKAT COSM5407292 c.349C>T p.P117S Substitution - Missense 7:27765917-27765917 + TCGA-A3-3357-01 COSM485248 c.2236T>A p.F746I Substitution - Missense 7:27828695-27828695 + CSCC-10-T COSM4469990 c.1632C>T p.L544L Substitution - coding silent 7:27796213-27796213 + TCGA-AM-5820-01 COSM3762611 c.919T>A p.L307I Substitution - Missense 7:27787484-27787484 + HDC54 COSM4636505 c.2077G>C p.D693H Substitution - Missense 7:27817030-27817030 + S02289 COSM5686246 c.1977G>A p.R659R Substitution - coding silent 7:27816930-27816930 + TCGA-CG-4465-01 COSM3880447 c.2313G>A p.Q771Q Substitution - coding silent 7:27828772-27828772 + TCGA-AZ-6598-01 COSM1450215 c.465_466insA p.T157fs*34 Insertion - Frameshift 7:27769687-27769688 + TCGA-BR-4256-01 COSM3880446 c.1792G>A p.A598T Substitution - Missense 7:27816376-27816376 + TCGA-D1-A174-01 COSM1088913 c.213G>T p.M71I Substitution - Missense 7:27758081-27758081 + OSCC-GB_01380111 COSM5953786 c.266-5C>T p.? Unknown 7:27765829-27765829 + HCC171 COSM3663129 c.589G>A p.D197N Substitution - Missense 7:27769811-27769811 + ATL045 COSM5710530 c.2122A>C p.S708R Substitution - Missense 7:27827774-27827774 + T2940 COSM4732253 c.2038C>T p.R680* Substitution - Nonsense 7:27816991-27816991 + Region-11 COSM5748900 c.1263+1G>T p.? Unknown 7:27792231-27792231 + H522 COSM1197073 c.2003G>T p.G668V Substitution - Missense 7:27816956-27816956 + BK0059 COSM4188330 c.416A>G p.D139G Substitution - Missense 7:27765984-27765984 + TCGA-EE-A17X-06 COSM3637771 c.1185C>T p.R395R Substitution - coding silent 7:27792152-27792152 + HCC50 COSM1622752 c.1600A>G p.K534E Substitution - Missense 7:27796181-27796181 + PT14_1 COSM5896895 c.890T>C p.L297P Substitution - Missense 7:27787455-27787455 + TCGA-AN-A0AK-01 COSM3027541 c.923A>T p.D308V Substitution - Missense 7:27787488-27787488 + 587222 COSM173704 c.2039G>A p.R680Q Substitution - Missense 7:27816992-27816992 + sysucc-834T COSM5486622 c.813T>C p.C271C Substitution - coding silent 7:27785450-27785450 + TCGA-DI-A0WH-01 COSM1088912 c.187T>C p.Y63H Substitution - Missense 7:27758055-27758055 + TCGA-DJ-A3VA-01 COSM3374606 c.2040A>T p.R680R Substitution - coding silent 7:27816993-27816993 + BCB151T COSM4951468 c.922G>C p.D308H Substitution - Missense 7:27787487-27787487 + HCC159T COSM3663130 c.1476A>G p.V492V Substitution - coding silent 7:27794388-27794388 + Region-15 COSM5748900 c.1263+1G>T p.? Unknown 7:27792231-27792231 + HCC171T COSM3663129 c.589G>A p.D197N Substitution - Missense 7:27769811-27769811 + Region-12 COSM5748900 c.1263+1G>T p.? Unknown 7:27792231-27792231 + Region-29 COSM5748900 c.1263+1G>T p.? Unknown 7:27792231-27792231 + Region-24 COSM5748900 c.1263+1G>T p.? Unknown 7:27792231-27792231 + Region-7 COSM5748900 c.1263+1G>T p.? Unknown 7:27792231-27792231 + Region-3 COSM5748900 c.1263+1G>T p.? Unknown 7:27792231-27792231 + OSCC-GB_00410111 COSM3715638 c.1363G>A p.E455K Substitution - Missense 7:27793165-27793165 + Region-23 COSM5748900 c.1263+1G>T p.? Unknown 7:27792231-27792231 + HCC159 COSM3663130 c.1476A>G p.V492V Substitution - coding silent 7:27794388-27794388 + sysucc-311T COSM263975 c.751G>A p.E251K Substitution - Missense 7:27785301-27785301 + TCGA-BK-A0CC-01 COSM1088915 c.313G>A p.V105I Substitution - Missense 7:27765881-27765881 + TCGA-GV-A3JZ-01 COSM1313006 c.808G>C p.E270Q Substitution - Missense 7:27785445-27785445 + TCGA-G3-A25Y-01 COSM4917846 c.1111G>A p.V371I Substitution - Missense 7:27792078-27792078 + TCGA-DK-A1A3-01 COSM421482 c.261C>T p.F87F Substitution - coding silent 7:27758129-27758129 + Pat_32_B COSM5872555 c.1664A>G p.Y555C Substitution - Missense 7:27799990-27799990 + PT37 COSM4528097 c.1510G>A p.D504N Substitution - Missense 7:27794422-27794422 + RK048_C01 COSM1635263 c.397G>C p.E133Q Substitution - Missense 7:27765965-27765965 + TCGA-DK-A2I4-01 COSM3778359 c.1897C>G p.L633V Substitution - Missense 7:27816481-27816481 + 61 COSM5737892 c.67G>A p.A23T Substitution - Missense 7:27748591-27748591 + NB-3264 COSM1288350 c.969C>A p.G323G Substitution - coding silent 7:27787534-27787534 + WA37 COSM241849 c.181C>G p.R61G Substitution - Missense 7:27758049-27758049 + TCGA-AR-A1AR-01 COSM452925 c.1448A>T p.N483I Substitution - Missense 7:27794360-27794360 + T3351 COSM1450217 c.508G>A p.V170I Substitution - Missense 7:27769730-27769730 + TBR01 COSM4168155 c.1038+5G>C p.? Unknown 7:27787608-27787608 + TCGA-BH-A0BP-01 COSM452927 c.1997C>G p.S666C Substitution - Missense 7:27816950-27816950 + Region-13 COSM5748900 c.1263+1G>T p.? Unknown 7:27792231-27792231 + TCGA-D5-6927-01 COSM1450222 c.1321C>A p.R441S Substitution - Missense 7:27793123-27793123 + ESCC-F58 COSM5048134 c.290G>A p.G97E Substitution - Missense 7:27765858-27765858 + TCGA-BR-8589-01 COSM3880443 c.1325T>G p.L442R Substitution - Missense 7:27793127-27793127 + TCGA-BR-8680-01 COSM3880440 c.1100G>A p.R367Q Substitution - Missense 7:27792067-27792067 + Region-10 COSM5748900 c.1263+1G>T p.? Unknown 7:27792231-27792231 + Region-6 COSM5748900 c.1263+1G>T p.? Unknown 7:27792231-27792231 + TCGA-DI-A0WH-01 COSM1088917 c.884C>T p.T295I Substitution - Missense 7:27787449-27787449 + PM-6 COSM5620119 c.887A>T p.K296M Substitution - Missense 7:27787452-27787452 + S00935 COSM315798 c.864G>T p.K288N Substitution - Missense 7:27787429-27787429 + TCGA-HU-A4GY-01 COSM3880441 c.1120G>A p.A374T Substitution - Missense 7:27792087-27792087 + Region-25 COSM5748900 c.1263+1G>T p.? Unknown 7:27792231-27792231 + 8061185 COSM3394702 c.624A>G p.E208E Substitution - coding silent 7:27785174-27785174 + NCI-H522 COSM1197073 c.2003G>T p.G668V Substitution - Missense 7:27816956-27816956 + T263 COSM4732251 c.1156A>T p.R386* Substitution - Nonsense 7:27792123-27792123 + HN_00190 COSM127195 c.266-1G>T p.? Unknown 7:27765833-27765833 + HCC2218 COSM32234 c.1370A>G p.Q457R Substitution - Missense 7:27793172-27793172 + TCGA-AG-A002-01 COSM263975 c.751G>A p.E251K Substitution - Missense 7:27785301-27785301 + Region-22 COSM5748900 c.1263+1G>T p.? Unknown 7:27792231-27792231 + T578 COSM4732249 c.958G>T p.E320* Substitution - Nonsense 7:27787523-27787523 + MO_1013 COSM5556241 c.321T>G p.H107Q Substitution - Missense 7:27765889-27765889 + PT19_2 COSM5900102 c.1922C>T p.S641F Substitution - Missense 7:27816506-27816506 + RK049_C01 COSM1635264 c.1484A>C p.D495A Substitution - Missense 7:27794396-27794396 + TCGA-D1-A103-01 COSM1088920 c.1270A>C p.T424P Substitution - Missense 7:27793072-27793072 + YUKAT COSM5407293 c.2077G>A p.D693N Substitution - Missense 7:27817030-27817030 + Region-30 COSM5748900 c.1263+1G>T p.? Unknown 7:27792231-27792231 + H322T COSM1194923 c.2296C>T p.P766S Substitution - Missense 7:27828755-27828755 + Region-28 COSM5748900 c.1263+1G>T p.? Unknown 7:27792231-27792231 + TCGA-DK-A3X1-01 COSM3778358 c.1246G>A p.A416T Substitution - Missense 7:27792213-27792213 + HCC50T COSM1622752 c.1600A>G p.K534E Substitution - Missense 7:27796181-27796181 + Region-4 COSM5748900 c.1263+1G>T p.? Unknown 7:27792231-27792231 + Region-16 COSM5748900 c.1263+1G>T p.? Unknown 7:27792231-27792231 + T3090 COSM4732252 c.1377C>T p.L459L Substitution - coding silent 7:27793179-27793179 + PT08_1 COSM173704 c.2039G>A p.R680Q Substitution - Missense 7:27816992-27816992 + pfg019T COSM1643319 c.792T>C p.H264H Substitution - coding silent 7:27785429-27785429 + H1155 COSM1195154 c.1622G>A p.C541Y Substitution - Missense 7:27796203-27796203 + TCGA-DV-5569-01 COSM3366903 c.153T>G p.G51G Substitution - coding silent 7:27748677-27748677 + 2951_CLM COSM5757039 c.2114A>T p.D705V Substitution - Missense 7:27827766-27827766 + BCB151T COSM4951468 c.922G>C p.D308H Substitution - Missense 7:27787487-27787487 + UPCI:SCC090 COSM3027536 c.832G>C p.D278H Substitution - Missense 7:27785469-27785469 + LOVO COSM3027549 c.1221T>C p.D407D Substitution - coding silent 7:27792188-27792188 + TCGA-BR-4366-01 COSM3880442 c.1272T>C p.T424T Substitution - coding silent 7:27793074-27793074 + Region-26 COSM5748900 c.1263+1G>T p.? Unknown 7:27792231-27792231 + PT08_2 COSM173704 c.2039G>A p.R680Q Substitution - Missense 7:27816992-27816992 + Pat_50_A COSM5872554 c.793G>A p.E265K Substitution - Missense 7:27785430-27785430 + CSCC-15-T COSM4572834 c.87T>G p.N29K Substitution - Missense 7:27748611-27748611 + C086 COSM5540125 c.2116C>T p.P706S Substitution - Missense 7:27827768-27827768 + 41T COSM3715638 c.1363G>A p.E455K Substitution - Missense 7:27793165-27793165 + TCGA-AA-A010-01 COSM285590 c.356A>G p.Q119R Substitution - Missense 7:27765924-27765924 + STC252 COSM5062409 c.1502C>T p.S501F Substitution - Missense 7:27794414-27794414 + TCGA-B2-4099-01 COSM485247 c.1427T>C p.V476A Substitution - Missense 7:27794339-27794339 + RK048_C COSM1635263 c.397G>C p.E133Q Substitution - Missense 7:27765965-27765965 + T3225 COSM4732250 c.1147G>A p.V383I Substitution - Missense 7:27792114-27792114 + TCGA-BQ-5885-01 COSM3995533 c.1884T>C p.N628N Substitution - coding silent 7:27816468-27816468 + Region-5 COSM5748900 c.1263+1G>T p.? Unknown 7:27792231-27792231 + LUAD-S01315 COSM345963 c.1633T>C p.L545L Substitution - coding silent 7:27796214-27796214 + TCGA-F4-6703-01 COSM1450220 c.1146C>T p.N382N Substitution - coding silent 7:27792113-27792113 + TCGA-FP-A4BE-01 COSM3880438 c.316A>G p.T106A Substitution - Missense 7:27765884-27765884 + TCGA-B5-A0K4-01 COSM1088919 c.1147G>T p.V383L Substitution - Missense 7:27792114-27792114 + TCGA-AG-A002-01 COSM184500 c.1161G>A p.T387T Substitution - coding silent 7:27792128-27792128 + S00935 COSM315798 c.864G>T p.K288N Substitution - Missense 7:27787429-27787429 + TCGA-B8-5551-01 COSM485246 c.668G>C p.R223T Substitution - Missense 7:27785218-27785218 + Region-14 COSM5748900 c.1263+1G>T p.? Unknown 7:27792231-27792231 + Region-2 COSM5748900 c.1263+1G>T p.? Unknown 7:27792231-27792231 + TCGA-FW-A3R5-06 COSM3923453 c.110C>T p.T37I Substitution - Missense 7:27748634-27748634 + 260211 COSM3725790 c.852+3A>T p.? Unknown 7:27785492-27785492 + TCGA-CM-4743-01 COSM1450217 c.508G>A p.V170I Substitution - Missense 7:27769730-27769730 + TCGA-BH-A0DZ-01 COSM452926 c.1692G>A p.L564L Substitution - coding silent 7:27800018-27800018 + TCGA-E9-A1NI-01 COSM1488502 c.1049_1050insT p.L352fs*7 Insertion - Frameshift 7:27792016-27792017 + 699_T COSM3950381 c.1668T>A p.A556A Substitution - coding silent 7:27799994-27799994 + TCGA-AG-3574-01 COSM287834 c.2283C>T p.S761S Substitution - coding silent 7:27828742-27828742 + Region-1 COSM5748900 c.1263+1G>T p.? Unknown 7:27792231-27792231 + U87 COSM3027542 c.962A>T p.E321V Substitution - Missense 7:27787527-27787527 + Gp5D COSM3027558 c.1506T>A p.T502T Substitution - coding silent 7:27794418-27794418 + TCGA-AP-A059-01 COSM1088911 c.142G>T p.D48Y Substitution - Missense 7:27748666-27748666 + TCGA-D1-A17Q-01 COSM1088916 c.605A>G p.E202G Substitution - Missense 7:27769827-27769827 + Region-18 COSM5748900 c.1263+1G>T p.? Unknown 7:27792231-27792231 + 9642_PT COSM5757038 c.1288G>A p.E430K Substitution - Missense 7:27793090-27793090 + CSCC-62-T COSM4521239 c.1100G>C p.R367P Substitution - Missense 7:27792067-27792067 + TCGA-BR-8361-01 COSM1450218 c.750C>T p.T250T Substitution - coding silent 7:27785300-27785300 + TCGA-66-2759-01 COSM746288 c.1442C>T p.T481M Substitution - Missense 7:27794354-27794354 + TCGA-AX-A05Z-01 COSM1088914 c.261C>A p.F87L Substitution - Missense 7:27758129-27758129 + TCGA-B5-A0JY-01 COSM1088918 c.1010G>T p.R337I Substitution - Missense 7:27787575-27787575 + BD114T COSM5503223 c.1387A>T p.I463L Substitution - Missense 7:27793189-27793189 + TCGA-CD-A4MI-01 COSM3880445 c.1760A>T p.Y587F Substitution - Missense 7:27800086-27800086 + Gp2D COSM3027558 c.1506T>A p.T502T Substitution - coding silent 7:27794418-27794418 + CSCC-32-T COSM4528097 c.1510G>A p.D504N Substitution - Missense 7:27794422-27794422 + TCGA-BJ-A0Z9-01 COSM3374605 c.1884T>A p.N628K Substitution - Missense 7:27816468-27816468 + Region-27 COSM5748900 c.1263+1G>T p.? Unknown 7:27792231-27792231 + 49M COSM5593382 c.448C>T p.L150F Substitution - Missense 7:27766016-27766016 + LP6007409-DNA_A01 COSM5953342 c.2190T>C p.C730C Substitution - coding silent 7:27828649-27828649 + TCGA-HU-A4GF-01 COSM3880444 c.1760A>G p.Y587C Substitution - Missense 7:27800086-27800086 + ESCC-F40 COSM5047713 c.2119C>T p.P707S Substitution - Missense 7:27827771-27827771 + LC_C15 COSM1187275 c.2123G>C p.S708T Substitution - Missense 7:27827775-27827775 + Region-19 COSM5748900 c.1263+1G>T p.? Unknown 7:27792231-27792231 + 12-P616 COSM4587343 c.365_367delCTT p.S124delS Deletion - In frame 7:27765933-27765935 + Bulk-T COSM5748900 c.1263+1G>T p.? Unknown 7:27792231-27792231 + TCGA-CD-8529-01 COSM3880439 c.847T>C p.Y283H Substitution - Missense 7:27785484-27785484 + TCGA-CK-5916-01 COSM1450216 c.482_484delAAG p.E163delE Deletion - In frame 7:27769704-27769706 + HN_62493 COSM121135 c.354C>T p.F118F Substitution - coding silent 7:27765922-27765922 + TCGA-AZ-6601-01 COSM1450219 c.1050delT p.L352fs*1 Deletion - Frameshift 7:27792017-27792017 + SB_07 COSM5753337 c.1449_1452TCAG>AATGA p.N483fs*7 Complex - frameshift 7:27794361-27794364 + Region-17 COSM5748900 c.1263+1G>T p.? Unknown 7:27792231-27792231 + TCGA-UB-A7MB-01 COSM4931144 c.1425T>C p.N475N Substitution - coding silent 7:27794337-27794337 + WSU-HN6 COSM3778359 c.1897C>G p.L633V Substitution - Missense 7:27816481-27816481 + TCGA-B1-A47N-01 COSM4414347 c.1987A>T p.R663* Substitution - Nonsense 7:27816940-27816940 + HT115 COSM3027552 c.1351G>T p.E451* Substitution - Nonsense 7:27793153-27793153 + ESCC-D7 COSM5046403 c.949C>G p.H317D Substitution - Missense 7:27787514-27787514 + TCGA-D5-6540-01 COSM1450221 c.1261C>A p.Q421K Substitution - Missense 7:27792228-27792228 + TCGA-AP-A059-01 COSM1088922 c.1891C>T p.P631S Substitution - Missense 7:27816475-27816475 + 9642_CLM COSM5757038 c.1288G>A p.E430K Substitution - Missense 7:27793090-27793090 + Region-20 COSM5748900 c.1263+1G>T p.? Unknown 7:27792231-27792231 + TCGA-AY-4071-01 COSM287688 c.1099C>T p.R367W Substitution - Missense 7:27792066-27792066 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.34576 7p15 605326 2444074|CGAP|BC050358|C/T|coding|Leu130Leu|456|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - A Frameshift p.N620Kfs*18 c.1859dupA 7 27856059 RCCC A G Missense p.Q457R c.1370A>G 7 27832791 BRCA A T Missense p.N483I c.1448A>T 7 27833979 BRCA C A Missense p.P46Q c.137C>A 7 27788280 CM C A Missense p.Q88K c.262C>A 7 27797749 CM C A Synonymous p.G323G c.969C>A 7 27827153 NB C A Synonymous p.T528T c.1584C>A 7 27835784 CM CC AA Missense p.H107N c.318_319delinsAA 7 27805505 CM CC AA Missense p.H780N c.2337_2338delinsAA 7 27868415 CM CC AA Missense p.P70N c.208_209delinsAA 7 27797695 CM CC AA Missense p.P70T c.207_208delinsAA 7 27797694 CM CC AA Missense p.Q608K c.1821_1822delinsAA 7 27856024 CM CG AT Missense p.P758H c.2273_2274delinsAT 7 27868351 CM C G Missense p.L633V c.1897C>G 7 27856100 BLCA C G Missense p.S666C c.1997C>G 7 27856569 BRCA C G Missense p.T316S c.947C>G 7 27827131 LUAD C T Missense p.R357C c.1069C>T 7 27831655 HNSC C T Missense p.R367W c.1099C>T 7 27831685 COREAD C T Missense p.T481M c.1442C>T 7 27833973 LUSC C T Synonymous p.F118F c.354C>T 7 27805541 HNSC C T Synonymous p.F53F c.159C>T 7 27788302 CM C T Synonymous p.F87F c.261C>T 7 27797748 BLCA C T Synonymous p.R395R c.1185C>T 7 27831771 CM C T Synonymous p.S761S c.2283C>T 7 27868361 COREAD G A Missense p.A598T c.1792G>A 7 27855995 STAD G A Missense p.V105I c.313G>A 7 27805500 UCEC G A Synonymous p.K221K c.663G>A 7 27824832 CM G A Synonymous p.L152L c.456G>A 7 27809297 LUAD G A Synonymous p.L396L c.1188G>A 7 27831774 LUAD G A Synonymous p.Q771Q c.2313G>A 7 27868391 STAD G C Missense p.E133Q c.397G>C 7 27805584 HC G C Missense p.E270Q c.808G>C 7 27825064 BLCA GG TT Missense p.A23S c.66_67delinsTT 7 27788209 CM GG TT Missense p.W68F c.203_204delinsTT 7 27797690 CM G T Missense p.K288N c.864G>T 7 27827048 SCLC G T Missense p.V383L c.1147G>T 7 27831733 UCEC G T Missense p.W57L c.170G>T 7 27797657 CM G T Nonsense p.E321* c.961G>T 7 27827145 LUAD G T Nonsense p.E734* c.2200G>T 7 27868278 CM G T Nonsense p.E762* c.2284G>T 7 27868362 LUSC G T SpliceAcceptorSNV . c.266-1G>T 7 27805452 HNSC G T SpliceAcceptorSNV . c.853-1G>T 7 27827036 CM T A Missense p.F746I c.2236T>A 7 27868314 RCCC T A Missense p.N628K c.1884T>A 7 27856087 THCA T C IntronicSNV . c.1410+27T>C 7 27832858 STAD T C Synonymous p.D308D c.924T>C 7 27827108 STAD T C Synonymous p.H264H c.792T>C 7 27825048 STAD T C Synonymous p.T424T c.1272T>C 7 27832693 STAD - T Frameshift p.L352Ffs*7 c.1055dupT 7 27831636 BRCA T G Synonymous p.G51G c.153T>G 7 27788296 RCCC