Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 8 87437479 87437479 + Silent SNP T T G TCGA-OR-A5L9-01A-11D-A29I-10 TCGA-OR-A5L9-10B-01D-A29L-10 g.chr8:87437479T>G c.1089T>G c.(1087-1089)ggT>ggG p.G363G ACC 8 87443898 87443898 + Missense_Mutation SNP A A C TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr8:87443898A>C c.1527A>C c.(1525-1527)gaA>gaC p.E509D BLCA 8 87410627 87410627 + Missense_Mutation SNP C C G TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 g.chr8:87410627C>G c.391C>G c.(391-393)Caa>Gaa p.Q131E BLCA 8 87414422 87414422 + Silent SNP C C T TCGA-4Z-AA7M-01A-11D-A391-08 TCGA-4Z-AA7M-10A-01D-A394-08 g.chr8:87414422C>T c.714C>T c.(712-714)gcC>gcT p.A238A BLCA 8 87437544 87437544 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr8:87437544C>T c.1154C>T c.(1153-1155)cCa>cTa p.P385L BLCA 8 87439902 87439902 + Missense_Mutation SNP A A T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 g.chr8:87439902A>T c.1188A>T c.(1186-1188)agA>agT p.R396S BLCA 8 87442959 87442959 + Nonsense_Mutation SNP G G T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr8:87442959G>T c.1366G>T c.(1366-1368)Gga>Tga p.G456* BLCA 8 87479049 87479049 + Missense_Mutation SNP A A G TCGA-XF-A9SZ-01A-11D-A391-08 TCGA-XF-A9SZ-10A-01D-A394-08 g.chr8:87479049A>G c.2696A>G c.(2695-2697)tAt>tGt p.Y899C BRCA 8 87437451 87437451 + Splice_Site SNP G G A TCGA-C8-A274-01A-11D-A16D-09 TCGA-C8-A274-10A-01D-A16D-09 g.chr8:87437451G>A c.e10-1 BRCA 8 87437463 87437463 + Missense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr8:87437463G>T c.1073G>T c.(1072-1074)aGa>aTa p.R358I BRCA 8 87443920 87443920 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr8:87443920C>T c.1549C>T c.(1549-1551)Cat>Tat p.H517Y BRCA 8 87454969 87454969 + Missense_Mutation SNP C C G TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 g.chr8:87454969C>G c.1960C>G c.(1960-1962)Ctt>Gtt p.L654V BRCA 8 87460386 87460386 + Missense_Mutation SNP C C T TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 g.chr8:87460386C>T c.2008C>T c.(2008-2010)Cat>Tat p.H670Y BRCA 8 87460602 87460602 + Splice_Site SNP A A G TCGA-B6-A1KF-01A-11D-A13L-09 TCGA-B6-A1KF-10A-01W-A14R-09 g.chr8:87460602A>G c.2133A>G c.(2131-2133)agA>agG p.R711R BRCA 8 87464813 87464813 + Nonsense_Mutation SNP C C T TCGA-C8-A274-01A-11D-A16D-09 TCGA-C8-A274-10A-01D-A16D-09 g.chr8:87464813C>T c.2299C>T c.(2299-2301)Cga>Tga p.R767* CHOL 8 87454934 87454934 + Missense_Mutation SNP A A G TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr8:87454934A>G c.1925A>G c.(1924-1926)cAg>cGg p.Q642R COAD 8 87386283 87386283 + Missense_Mutation SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr8:87386283G>A c.4G>A c.(4-6)Gcc>Acc p.A2T COAD 8 87386304 87386304 + Missense_Mutation SNP G G C TCGA-DM-A0XF-01A-11D-A152-10 TCGA-DM-A0XF-10A-01D-A152-10 g.chr8:87386304G>C c.25G>C c.(25-27)Gat>Cat p.D9H COAD 8 87393738 87393738 + Missense_Mutation SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr8:87393738G>A c.214G>A c.(214-216)Gtt>Att p.V72I COAD 8 87393743 87393743 + Silent SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr8:87393743G>A c.219G>A c.(217-219)acG>acA p.T73T COAD 8 87393787 87393788 + Missense_Mutation DNP TA TA AT TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chr8:87393787_87393788TA>AT c.263_264TA>AT c.(262-264)tTA>tAT p.L88Y COAD 8 87393792 87393792 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr8:87393792G>A c.268G>A c.(268-270)Gca>Aca p.A90T COAD 8 87393817 87393817 + Missense_Mutation SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr8:87393817C>T c.293C>T c.(292-294)aCg>aTg p.T98M COAD 8 87423872 87423872 + Missense_Mutation SNP C C A TCGA-A6-3810-01A-01W-0995-10 TCGA-A6-3810-11A-01W-0995-10 g.chr8:87423872C>A c.830C>A c.(829-831)aCt>aAt p.T277N COAD 8 87424060 87424060 + Missense_Mutation SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr8:87424060C>T c.1018C>T c.(1018-1020)Cgg>Tgg p.R340W COAD 8 87437503 87437503 + Silent SNP T T C TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr8:87437503T>C c.1113T>C c.(1111-1113)aaT>aaC p.N371N COAD 8 87439994 87439994 + Missense_Mutation SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr8:87439994G>A c.1280G>A c.(1279-1281)cGg>cAg p.R427Q COAD 8 87442950 87442950 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:87442950G>T c.1357G>T c.(1357-1359)Gac>Tac p.D453Y COAD 8 87450835 87450835 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr8:87450835G>T c.1771G>T c.(1771-1773)Gac>Tac p.D591Y COAD 8 87450899 87450899 + Missense_Mutation SNP C C T TCGA-AA-A02W-01A-01W-A00E-09 TCGA-AA-A02W-10A-01W-A00E-09 g.chr8:87450899C>T c.1835C>T c.(1834-1836)gCg>gTg p.A612V COAD 8 87460618 87460618 + Nonsense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr8:87460618G>T c.2149G>T c.(2149-2151)Gaa>Taa p.E717* COAD 8 87460648 87460648 + Missense_Mutation SNP G G C TCGA-AA-3489-01A-21D-1835-10 TCGA-AA-3489-11A-01D-1835-10 g.chr8:87460648G>C c.2179G>C c.(2179-2181)Gac>Cac p.D727H COAD 8 87460711 87460711 + Missense_Mutation SNP G G A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr8:87460711G>A c.2242G>A c.(2242-2244)Gtg>Atg p.V748M COAD 8 87464805 87464805 + Missense_Mutation SNP G G A TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr8:87464805G>A c.2291G>A c.(2290-2292)cGt>cAt p.R764H COAD 8 87473456 87473456 + Missense_Mutation SNP G G A TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr8:87473456G>A c.2503G>A c.(2503-2505)Gtg>Atg p.V835M COADREAD 8 87386283 87386283 + Missense_Mutation SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr8:87386283G>A c.4G>A c.(4-6)Gcc>Acc p.A2T COADREAD 8 87386304 87386304 + Missense_Mutation SNP G G C TCGA-DM-A0XF-01A-11D-A152-10 TCGA-DM-A0XF-10A-01D-A152-10 g.chr8:87386304G>C c.25G>C c.(25-27)Gat>Cat p.D9H COADREAD 8 87393738 87393738 + Missense_Mutation SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr8:87393738G>A c.214G>A c.(214-216)Gtt>Att p.V72I COADREAD 8 87393743 87393743 + Silent SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr8:87393743G>A c.219G>A c.(217-219)acG>acA p.T73T COADREAD 8 87393787 87393788 + Missense_Mutation DNP TA TA AT TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chr8:87393787_87393788TA>AT c.263_264TA>AT c.(262-264)tTA>tAT p.L88Y COADREAD 8 87393792 87393792 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr8:87393792G>A c.268G>A c.(268-270)Gca>Aca p.A90T COADREAD 8 87393817 87393817 + Missense_Mutation SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr8:87393817C>T c.293C>T c.(292-294)aCg>aTg p.T98M COADREAD 8 87423872 87423872 + Missense_Mutation SNP C C A TCGA-A6-3810-01A-01W-0995-10 TCGA-A6-3810-11A-01W-0995-10 g.chr8:87423872C>A c.830C>A c.(829-831)aCt>aAt p.T277N COADREAD 8 87424060 87424060 + Missense_Mutation SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr8:87424060C>T c.1018C>T c.(1018-1020)Cgg>Tgg p.R340W COADREAD 8 87437503 87437503 + Silent SNP T T C TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr8:87437503T>C c.1113T>C c.(1111-1113)aaT>aaC p.N371N COADREAD 8 87437508 87437508 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:87437508G>A c.1118G>A c.(1117-1119)cGa>cAa p.R373Q COADREAD 8 87439994 87439994 + Missense_Mutation SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr8:87439994G>A c.1280G>A c.(1279-1281)cGg>cAg p.R427Q COADREAD 8 87442950 87442950 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:87442950G>T c.1357G>T c.(1357-1359)Gac>Tac p.D453Y COADREAD 8 87450835 87450835 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr8:87450835G>T c.1771G>T c.(1771-1773)Gac>Tac p.D591Y COADREAD 8 87450854 87450854 + Missense_Mutation SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:87450854A>G c.1790A>G c.(1789-1791)tAt>tGt p.Y597C COADREAD 8 87450899 87450899 + Missense_Mutation SNP C C T TCGA-AA-A02W-01A-01W-A00E-09 TCGA-AA-A02W-10A-01W-A00E-09 g.chr8:87450899C>T c.1835C>T c.(1834-1836)gCg>gTg p.A612V COADREAD 8 87454945 87454945 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:87454945G>A c.1936G>A c.(1936-1938)Gca>Aca p.A646T COADREAD 8 87460618 87460618 + Nonsense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr8:87460618G>T c.2149G>T c.(2149-2151)Gaa>Taa p.E717* COADREAD 8 87460648 87460648 + Missense_Mutation SNP G G C TCGA-AA-3489-01A-21D-1835-10 TCGA-AA-3489-11A-01D-1835-10 g.chr8:87460648G>C c.2179G>C c.(2179-2181)Gac>Cac p.D727H COADREAD 8 87460711 87460711 + Missense_Mutation SNP G G A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr8:87460711G>A c.2242G>A c.(2242-2244)Gtg>Atg p.V748M COADREAD 8 87464805 87464805 + Missense_Mutation SNP G G A TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr8:87464805G>A c.2291G>A c.(2290-2292)cGt>cAt p.R764H COADREAD 8 87473456 87473456 + Missense_Mutation SNP G G A TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr8:87473456G>A c.2503G>A c.(2503-2505)Gtg>Atg p.V835M DLBC 8 87414308 87414308 + Silent SNP A A G TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr8:87414308A>G c.600A>G c.(598-600)caA>caG p.Q200Q DLBC 8 87473473 87473473 + Silent SNP T T C TCGA-G8-6907-01A-11D-2210-10 TCGA-G8-6907-14A-01D-2210-10 g.chr8:87473473T>C c.2520T>C c.(2518-2520)aaT>aaC p.N840N ESCA 8 87393820 87393820 + Missense_Mutation SNP T T A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 g.chr8:87393820T>A c.296T>A c.(295-297)aTa>aAa p.I99K ESCA 8 87424060 87424060 + Missense_Mutation SNP C C T TCGA-2H-A9GJ-01A-11D-A37C-09 TCGA-2H-A9GJ-11A-11D-A37F-09 g.chr8:87424060C>T c.1018C>T c.(1018-1020)Cgg>Tgg p.R340W ESCA 8 87424100 87424100 + Nonsense_Mutation SNP C C G TCGA-R6-A8W5-01B-11D-A37C-09 TCGA-R6-A8W5-10A-01D-A37F-09 g.chr8:87424100C>G c.1058C>G c.(1057-1059)tCa>tGa p.S353* ESCA 8 87443634 87443635 + Splice_Site INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr8:87443634_87443635insA c.e13-1 ESCA 8 87460711 87460711 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 g.chr8:87460711G>T c.2242G>T c.(2242-2244)Gtg>Ttg p.V748L ESCA 8 87473462 87473462 + Nonsense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 g.chr8:87473462G>T c.2509G>T c.(2509-2511)Gag>Tag p.E837* GBMLGG 8 87443690 87443690 + Silent SNP A A C TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 g.chr8:87443690A>C c.1443A>C c.(1441-1443)acA>acC p.T481T GBMLGG 8 87447713 87447713 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:87447713G>A c.1634G>A c.(1633-1635)cGc>cAc p.R545H GBMLGG 8 87474066 87474066 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:87474066G>A c.2660G>A c.(2659-2661)aGc>aAc p.S887N GBMLGG 8 87479030 87479030 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:87479030C>T c.2677C>T c.(2677-2679)Cgc>Tgc p.R893C HNSC 8 87393860 87393860 + Splice_Site SNP T T A TCGA-CV-7446-01A-11D-2229-08 TCGA-CV-7446-10A-01D-2229-08 g.chr8:87393860T>A c.e5+2 HNSC 8 87414410 87414410 + Silent SNP A A G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 g.chr8:87414410A>G c.702A>G c.(700-702)gcA>gcG p.A234A HNSC 8 87423945 87423945 + Silent SNP A A G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 g.chr8:87423945A>G c.903A>G c.(901-903)gcA>gcG p.A301A HNSC 8 87454892 87454892 + Missense_Mutation SNP A A G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 g.chr8:87454892A>G c.1883A>G c.(1882-1884)tAt>tGt p.Y628C HNSC 8 87460450 87460450 + Missense_Mutation SNP T T A TCGA-BB-4224-01A-01D-1434-08 TCGA-BB-4224-10A-01D-1434-08 g.chr8:87460450T>A c.2072T>A c.(2071-2073)cTt>cAt p.L691H HNSC 8 87464814 87464814 + Missense_Mutation SNP G G A TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr8:87464814G>A c.2300G>A c.(2299-2301)cGa>cAa p.R767Q HNSC 8 87470164 87470165 + Frame_Shift_Ins INS - - A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 g.chr8:87470164_87470165insA c.2409_2410insA c.(2410-2412)atgfs p.M804fs HNSC 8 87470217 87470217 + Missense_Mutation SNP A A G TCGA-UF-A719-01A-12D-A34J-08 TCGA-UF-A719-10A-01D-A34M-08 g.chr8:87470217A>G c.2462A>G c.(2461-2463)tAt>tGt p.Y821C HNSC 8 87474017 87474017 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr8:87474017C>A c.2611C>A c.(2611-2613)Caa>Aaa p.Q871K KICH 8 87410805 87410805 + Missense_Mutation SNP A A C TCGA-KN-8433-01A-11D-2310-10 TCGA-KN-8433-11A-01D-2311-10 g.chr8:87410805A>C c.477A>C c.(475-477)gaA>gaC p.E159D KICH 8 87414376 87414376 + Frame_Shift_Del DEL G G - TCGA-KO-8407-01A-11D-2310-10 TCGA-KO-8407-11A-01D-2311-10 g.chr8:87414376delG c.668delG c.(667-669)agafs p.R223fs KIPAN 8 87410646 87410646 + Missense_Mutation SNP T T C TCGA-SX-A7SL-01A-11D-A34Z-10 TCGA-SX-A7SL-10A-01D-A34Z-10 g.chr8:87410646T>C c.410T>C c.(409-411)gTt>gCt p.V137A KIPAN 8 87410805 87410805 + Missense_Mutation SNP A A C TCGA-KN-8433-01A-11D-2310-10 TCGA-KN-8433-11A-01D-2311-10 g.chr8:87410805A>C c.477A>C c.(475-477)gaA>gaC p.E159D KIPAN 8 87414376 87414376 + Frame_Shift_Del DEL G G - TCGA-KO-8407-01A-11D-2310-10 TCGA-KO-8407-11A-01D-2311-10 g.chr8:87414376delG c.668delG c.(667-669)agafs p.R223fs KIPAN 8 87423961 87423961 + Missense_Mutation SNP G G C TCGA-HE-A5NK-01A-11D-A26P-10 TCGA-HE-A5NK-10A-01D-A26P-10 g.chr8:87423961G>C c.919G>C c.(919-921)Gct>Cct p.A307P KIPAN 8 87424056 87424056 + Silent SNP T T C TCGA-B0-4846-01A-01D-1361-10 TCGA-B0-4846-11A-01D-1361-10 g.chr8:87424056T>C c.1014T>C c.(1012-1014)ccT>ccC p.P338P KIPAN 8 87443954 87443954 + Missense_Mutation SNP G G A TCGA-F9-A4JJ-01A-11D-A25F-10 TCGA-F9-A4JJ-10A-01D-A25F-10 g.chr8:87443954G>A c.1583G>A c.(1582-1584)cGc>cAc p.R528H KIPAN 8 87447714 87447715 + Frame_Shift_Ins INS - - AATTTTT TCGA-GL-A59R-01A-11D-A26P-10 TCGA-GL-A59R-10A-01D-A26P-10 g.chr8:87447714_87447715insAATTTTT c.1635_1636insAATTTTT c.(1636-1638)ggcfs p.G546fs KIPAN 8 87447715 87447715 + Frame_Shift_Del DEL G G - TCGA-GL-A59R-01A-11D-A26P-10 TCGA-GL-A59R-10A-01D-A26P-10 g.chr8:87447715delG c.1636delG c.(1636-1638)ggcfs p.G546fs KIPAN 8 87460401 87460401 + Missense_Mutation SNP G G T TCGA-HE-A5NH-01A-11D-A26P-10 TCGA-HE-A5NH-10A-01D-A26P-10 g.chr8:87460401G>T c.2023G>T c.(2023-2025)Gat>Tat p.D675Y KIPAN 8 87464827 87464827 + Silent SNP A A G TCGA-BP-4976-01A-01D-1462-08 TCGA-BP-4976-11A-01D-1462-08 g.chr8:87464827A>G c.2313A>G c.(2311-2313)gaA>gaG p.E771E KIRC 8 87424056 87424056 + Silent SNP T T C TCGA-B0-4846-01A-01D-1361-10 TCGA-B0-4846-11A-01D-1361-10 g.chr8:87424056T>C c.1014T>C c.(1012-1014)ccT>ccC p.P338P KIRC 8 87464827 87464827 + Silent SNP A A G TCGA-BP-4976-01A-01D-1462-08 TCGA-BP-4976-11A-01D-1462-08 g.chr8:87464827A>G c.2313A>G c.(2311-2313)gaA>gaG p.E771E KIRP 8 87410646 87410646 + Missense_Mutation SNP T T C TCGA-SX-A7SL-01A-11D-A34Z-10 TCGA-SX-A7SL-10A-01D-A34Z-10 g.chr8:87410646T>C c.410T>C c.(409-411)gTt>gCt p.V137A KIRP 8 87423961 87423961 + Missense_Mutation SNP G G C TCGA-HE-A5NK-01A-11D-A26P-10 TCGA-HE-A5NK-10A-01D-A26P-10 g.chr8:87423961G>C c.919G>C c.(919-921)Gct>Cct p.A307P KIRP 8 87443954 87443954 + Missense_Mutation SNP G G A TCGA-F9-A4JJ-01A-11D-A25F-10 TCGA-F9-A4JJ-10A-01D-A25F-10 g.chr8:87443954G>A c.1583G>A c.(1582-1584)cGc>cAc p.R528H KIRP 8 87447714 87447715 + Frame_Shift_Ins INS - - AATTTTT TCGA-GL-A59R-01A-11D-A26P-10 TCGA-GL-A59R-10A-01D-A26P-10 g.chr8:87447714_87447715insAATTTTT c.1635_1636insAATTTTT c.(1636-1638)ggcfs p.G546fs KIRP 8 87447715 87447715 + Frame_Shift_Del DEL G G - TCGA-GL-A59R-01A-11D-A26P-10 TCGA-GL-A59R-10A-01D-A26P-10 g.chr8:87447715delG c.1636delG c.(1636-1638)ggcfs p.G546fs KIRP 8 87460401 87460401 + Missense_Mutation SNP G G T TCGA-HE-A5NH-01A-11D-A26P-10 TCGA-HE-A5NH-10A-01D-A26P-10 g.chr8:87460401G>T c.2023G>T c.(2023-2025)Gat>Tat p.D675Y LGG 8 87443690 87443690 + Silent SNP A A C TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 g.chr8:87443690A>C c.1443A>C c.(1441-1443)acA>acC p.T481T LGG 8 87447713 87447713 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:87447713G>A c.1634G>A c.(1633-1635)cGc>cAc p.R545H LGG 8 87474066 87474066 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:87474066G>A c.2660G>A c.(2659-2661)aGc>aAc p.S887N LGG 8 87479030 87479030 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:87479030C>T c.2677C>T c.(2677-2679)Cgc>Tgc p.R893C LIHC 8 87410810 87410810 + Missense_Mutation SNP A A G TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr8:87410810A>G c.482A>G c.(481-483)cAg>cGg p.Q161R LIHC 8 87439874 87439874 + Missense_Mutation SNP G G T TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr8:87439874G>T c.1160G>T c.(1159-1161)tGg>tTg p.W387L LIHC 8 87454970 87454970 + Frame_Shift_Del DEL T T - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr8:87454970delT c.1961delT c.(1960-1962)cttfs p.L654fs LIHC 8 87479044 87479044 + Silent SNP A A G TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr8:87479044A>G c.2691A>G c.(2689-2691)ccA>ccG p.P897P LUAD 8 87386340 87386340 + Missense_Mutation SNP C C G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 g.chr8:87386340C>G c.61C>G c.(61-63)Cag>Gag p.Q21E LUAD 8 87393038 87393038 + Missense_Mutation SNP A A G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 g.chr8:87393038A>G c.154A>G c.(154-156)Aaa>Gaa p.K52E LUAD 8 87393807 87393807 + Missense_Mutation SNP G G C TCGA-99-8028-01A-11D-2238-08 TCGA-99-8028-10A-01D-2238-08 g.chr8:87393807G>C c.283G>C c.(283-285)Gga>Cga p.G95R LUAD 8 87393808 87393808 + Missense_Mutation SNP G G T TCGA-99-8028-01A-11D-2238-08 TCGA-99-8028-10A-01D-2238-08 g.chr8:87393808G>T c.284G>T c.(283-285)gGa>gTa p.G95V LUAD 8 87414324 87414324 + Missense_Mutation SNP T T A TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr8:87414324T>A c.616T>A c.(616-618)Tat>Aat p.Y206N LUAD 8 87423799 87423799 + Missense_Mutation SNP G G T TCGA-69-8253-01A-11D-2284-08 TCGA-69-8253-10A-01D-2284-08 g.chr8:87423799G>T c.757G>T c.(757-759)Gat>Tat p.D253Y LUAD 8 87423913 87423913 + Missense_Mutation SNP G G A TCGA-17-Z058-01A-01W-0747-08 TCGA-17-Z058-11A-01W-0747-08 g.chr8:87423913G>A c.871G>A c.(871-873)Gaa>Aaa p.E291K LUAD 8 87424073 87424073 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 g.chr8:87424073G>A c.1031G>A c.(1030-1032)gGg>gAg p.G344E LUAD 8 87424098 87424098 + Silent SNP A A G TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr8:87424098A>G c.1056A>G c.(1054-1056)ccA>ccG p.P352P LUAD 8 87437524 87437524 + Missense_Mutation SNP G G T TCGA-NJ-A4YF-01A-12D-A25L-08 TCGA-NJ-A4YF-10A-01D-A25L-08 g.chr8:87437524G>T c.1134G>T c.(1132-1134)gaG>gaT p.E378D LUAD 8 87439906 87439906 + Missense_Mutation SNP T T C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 g.chr8:87439906T>C c.1192T>C c.(1192-1194)Tat>Cat p.Y398H LUAD 8 87439919 87439919 + Missense_Mutation SNP A A G TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 g.chr8:87439919A>G c.1205A>G c.(1204-1206)cAt>cGt p.H402R LUAD 8 87440021 87440021 + Missense_Mutation SNP A A C TCGA-17-Z015-01A-01W-0746-08 TCGA-17-Z015-11A-01W-0746-08 g.chr8:87440021A>C c.1307A>C c.(1306-1308)cAg>cCg p.Q436P LUAD 8 87442962 87442962 + Missense_Mutation SNP C C T TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr8:87442962C>T c.1369C>T c.(1369-1371)Cct>Tct p.P457S LUSC 8 87423845 87423845 + Missense_Mutation SNP C C T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 g.chr8:87423845C>T c.803C>T c.(802-804)gCc>gTc p.A268V LUSC 8 87423938 87423938 + Missense_Mutation SNP C C G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 g.chr8:87423938C>G c.896C>G c.(895-897)aCc>aGc p.T299S LUSC 8 87424104 87424104 + Splice_Site SNP G G T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 g.chr8:87424104G>T c.e9+1 PAAD 8 87393071 87393071 + Missense_Mutation SNP A A C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr8:87393071A>C c.187A>C c.(187-189)Aaa>Caa p.K63Q PAAD 8 87423766 87423766 + Splice_Site SNP G G T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 g.chr8:87423766G>T c.e9-1 PCPG 8 87470169 87470169 + Missense_Mutation SNP A A G TCGA-QR-A6GR-01A-11D-A35D-08 TCGA-QR-A6GR-10A-01D-A35B-08 g.chr8:87470169A>G c.2414A>G c.(2413-2415)cAg>cGg p.Q805R PRAD 8 87423858 87423858 + Missense_Mutation SNP T T G TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 g.chr8:87423858T>G c.816T>G c.(814-816)aaT>aaG p.N272K PRAD 8 87447713 87447713 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr8:87447713G>A c.1634G>A c.(1633-1635)cGc>cAc p.R545H PRAD 8 87470210 87470210 + Nonsense_Mutation SNP C C T TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 g.chr8:87470210C>T c.2455C>T c.(2455-2457)Cga>Tga p.R819* READ 8 87437508 87437508 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:87437508G>A c.1118G>A c.(1117-1119)cGa>cAa p.R373Q READ 8 87450854 87450854 + Missense_Mutation SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:87450854A>G c.1790A>G c.(1789-1791)tAt>tGt p.Y597C READ 8 87454945 87454945 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:87454945G>A c.1936G>A c.(1936-1938)Gca>Aca p.A646T SARC 8 87464902 87464902 + Missense_Mutation SNP A A T TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 g.chr8:87464902A>T c.2388A>T c.(2386-2388)gaA>gaT p.E796D SARC 8 87473537 87473537 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 g.chr8:87473537G>A c.2584G>A c.(2584-2586)Gct>Act p.A862T SKCM 8 87392992 87392992 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr8:87392992C>T c.108C>T c.(106-108)ttC>ttT p.F36F SKCM 8 87393068 87393068 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr8:87393068C>T c.184C>T c.(184-186)Cca>Tca p.P62S SKCM 8 87393069 87393069 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr8:87393069C>T c.185C>T c.(184-186)cCa>cTa p.P62L SKCM 8 87410599 87410599 + Silent SNP T T A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr8:87410599T>A c.363T>A c.(361-363)ctT>ctA p.L121L SKCM 8 87424091 87424091 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr8:87424091C>T c.1049C>T c.(1048-1050)aCc>aTc p.T350I SKCM 8 87437474 87437474 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 g.chr8:87437474C>T c.1084C>T c.(1084-1086)Cat>Tat p.H362Y SKCM 8 87439898 87439898 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 g.chr8:87439898G>A c.1184G>A c.(1183-1185)aGa>aAa p.R395K SKCM 8 87439961 87439961 + Missense_Mutation SNP C C T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 g.chr8:87439961C>T c.1247C>T c.(1246-1248)tCt>tTt p.S416F SKCM 8 87460461 87460461 + Missense_Mutation SNP G G A TCGA-EE-A3JB-06A-11D-A21A-08 TCGA-EE-A3JB-10A-01D-A21A-08 g.chr8:87460461G>A c.2083G>A c.(2083-2085)Gat>Aat p.D695N

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 8 87439902 87439902 single base substitution A T exon_variant BLCA-US 8 87439902 87439902 single base substitution A T missense_variant R178S 534A>T BLCA-US 8 87439902 87439902 single base substitution A T missense_variant R266S 798A>T BLCA-US 8 87439902 87439902 single base substitution A T missense_variant R396S 1188A>T BLCA-US 8 87442959 87442959 single base substitution G T downstream_gene_variant BLCA-US 8 87442959 87442959 single base substitution G T exon_variant BLCA-US 8 87442959 87442959 single base substitution G T stop_gained G238* 712G>T BLCA-US 8 87442959 87442959 single base substitution G T stop_gained G326* 976G>T BLCA-US 8 87442959 87442959 single base substitution G T stop_gained G456* 1366G>T BLCA-US 8 87442959 87442959 single base substitution G T upstream_gene_variant BLCA-US 8 87486538 87486538 single base substitution C T intron_variant BLCA-US 8 87486543 87486543 single base substitution C T intron_variant BOCA-FR 8 87355971 87355971 single base substitution A G intron_variant BOCA-UK 8 87410700 87410700 single base substitution C T exon_variant BOCA-UK 8 87410700 87410700 single base substitution C T intron_variant BOCA-UK 8 87410700 87410700 single base substitution C T missense_variant S155F 464C>T BRCA-EU 8 87351133 87351133 single base substitution C T upstream_gene_variant BRCA-EU 8 87352346 87352346 single base substitution C G upstream_gene_variant BRCA-EU 8 87352357 87352357 single base substitution C G upstream_gene_variant BRCA-EU 8 87352502 87352502 single base substitution A T upstream_gene_variant BRCA-EU 8 87352547 87352547 single base substitution C A upstream_gene_variant BRCA-EU 8 87353416 87353416 single base substitution C T upstream_gene_variant BRCA-EU 8 87354953 87354953 single base substitution G A upstream_gene_variant BRCA-EU 8 87355496 87355496 single base substitution T C intron_variant BRCA-EU 8 87356142 87356142 single base substitution C T intron_variant BRCA-EU 8 87358037 87358037 single base substitution A T intron_variant BRCA-EU 8 87358771 87358771 insertion of <=200bp - T intron_variant BRCA-EU 8 87360465 87360465 insertion of <=200bp - C intron_variant BRCA-EU 8 87361035 87361035 insertion of <=200bp - A intron_variant BRCA-EU 8 87361260 87361260 deletion of <=200bp T - intron_variant BRCA-EU 8 87362324 87362324 single base substitution C G intron_variant BRCA-EU 8 87362846 87362846 single base substitution T C intron_variant BRCA-EU 8 87363573 87363573 deletion of <=200bp T - intron_variant BRCA-EU 8 87365101 87365101 single base substitution C G intron_variant BRCA-EU 8 87365244 87365244 single base substitution G A intron_variant BRCA-EU 8 87365908 87365908 single base substitution C T intron_variant BRCA-EU 8 87366558 87366558 single base substitution A G intron_variant BRCA-EU 8 87368300 87368300 deletion of <=200bp T - intron_variant BRCA-EU 8 87368354 87368354 single base substitution T C intron_variant BRCA-EU 8 87368679 87368679 deletion of <=200bp T - intron_variant BRCA-EU 8 87369573 87369573 insertion of <=200bp - T intron_variant BRCA-EU 8 87371403 87371403 single base substitution C G intron_variant BRCA-EU 8 87372138 87372138 single base substitution C T intron_variant BRCA-EU 8 87372474 87372474 deletion of <=200bp T - intron_variant BRCA-EU 8 87373463 87373463 single base substitution G A intron_variant BRCA-EU 8 87374192 87374192 single base substitution A T intron_variant BRCA-EU 8 87375209 87375209 single base substitution C T intron_variant BRCA-EU 8 87375565 87375565 single base substitution C G intron_variant BRCA-EU 8 87375701 87375701 deletion of <=200bp T - intron_variant BRCA-EU 8 87377924 87377924 single base substitution G T intron_variant BRCA-EU 8 87378720 87378720 single base substitution C T intron_variant BRCA-EU 8 87379863 87379863 single base substitution T A intron_variant BRCA-EU 8 87380332 87380332 single base substitution C T intron_variant BRCA-EU 8 87380803 87380803 single base substitution C T intron_variant BRCA-EU 8 87381169 87381169 single base substitution G A splice_region_variant BRCA-EU 8 87382889 87382889 single base substitution T C intron_variant BRCA-EU 8 87382889 87382889 single base substitution T C upstream_gene_variant BRCA-EU 8 87383025 87383025 single base substitution C G intron_variant BRCA-EU 8 87383025 87383025 single base substitution C G upstream_gene_variant BRCA-EU 8 87383324 87383324 single base substitution C G intron_variant BRCA-EU 8 87383324 87383324 single base substitution C G upstream_gene_variant BRCA-EU 8 87383335 87383335 single base substitution C T intron_variant BRCA-EU 8 87383335 87383335 single base substitution C T upstream_gene_variant BRCA-EU 8 87384403 87384403 single base substitution C T intron_variant BRCA-EU 8 87384403 87384403 single base substitution C T upstream_gene_variant BRCA-EU 8 87384823 87384823 single base substitution A C intron_variant BRCA-EU 8 87384823 87384823 single base substitution A C upstream_gene_variant BRCA-EU 8 87385066 87385066 single base substitution T A intron_variant BRCA-EU 8 87385066 87385066 single base substitution T A upstream_gene_variant BRCA-EU 8 87388952 87388952 single base substitution A G intron_variant BRCA-EU 8 87388952 87388952 single base substitution A G upstream_gene_variant BRCA-EU 8 87389069 87389069 single base substitution C G intron_variant BRCA-EU 8 87389069 87389069 single base substitution C G upstream_gene_variant BRCA-EU 8 87389325 87389325 deletion of <=200bp T - intron_variant BRCA-EU 8 87389325 87389325 deletion of <=200bp T - upstream_gene_variant BRCA-EU 8 87390265 87390265 single base substitution C G intron_variant BRCA-EU 8 87390265 87390265 single base substitution C G upstream_gene_variant BRCA-EU 8 87390444 87390444 deletion of <=200bp A - intron_variant BRCA-EU 8 87390444 87390444 deletion of <=200bp A - upstream_gene_variant BRCA-EU 8 87390534 87390534 single base substitution C G intron_variant BRCA-EU 8 87390534 87390534 single base substitution C G upstream_gene_variant BRCA-EU 8 87390687 87390687 single base substitution C G intron_variant BRCA-EU 8 87390687 87390687 single base substitution C G upstream_gene_variant BRCA-EU 8 87390797 87390797 deletion of <=200bp A - intron_variant BRCA-EU 8 87390797 87390797 deletion of <=200bp A - upstream_gene_variant BRCA-EU 8 87391793 87391793 single base substitution T A intron_variant BRCA-EU 8 87391793 87391793 single base substitution T A upstream_gene_variant BRCA-EU 8 87392486 87392486 single base substitution A C intron_variant BRCA-EU 8 87392486 87392486 single base substitution A C upstream_gene_variant BRCA-EU 8 87392694 87392694 single base substitution C T intron_variant BRCA-EU 8 87392694 87392694 single base substitution C T upstream_gene_variant BRCA-EU 8 87394042 87394042 single base substitution C G intron_variant BRCA-EU 8 87394654 87394654 single base substitution G T intron_variant BRCA-EU 8 87395239 87395239 single base substitution C T intron_variant BRCA-EU 8 87395535 87395535 single base substitution T C intron_variant BRCA-EU 8 87395758 87395758 single base substitution G T intron_variant BRCA-EU 8 87396972 87396972 single base substitution G T intron_variant BRCA-EU 8 87398284 87398284 single base substitution C G intron_variant BRCA-EU 8 87398452 87398452 single base substitution G A intron_variant BRCA-EU 8 87399363 87399363 single base substitution C T downstream_gene_variant BRCA-EU 8 87399363 87399363 single base substitution C T intron_variant BRCA-EU 8 87399417 87399417 single base substitution T C downstream_gene_variant BRCA-EU 8 87399417 87399417 single base substitution T C intron_variant BRCA-EU 8 87399665 87399665 single base substitution C T downstream_gene_variant BRCA-EU 8 87399665 87399665 single base substitution C T intron_variant BRCA-EU 8 87400582 87400582 single base substitution C T downstream_gene_variant BRCA-EU 8 87400582 87400582 single base substitution C T intron_variant BRCA-EU 8 87400716 87400716 single base substitution C T downstream_gene_variant BRCA-EU 8 87400716 87400716 single base substitution C T intron_variant BRCA-EU 8 87400775 87400775 single base substitution C G downstream_gene_variant BRCA-EU 8 87400775 87400775 single base substitution C G intron_variant BRCA-EU 8 87401607 87401607 single base substitution C G downstream_gene_variant BRCA-EU 8 87401607 87401607 single base substitution C G intron_variant BRCA-EU 8 87402408 87402408 single base substitution C T downstream_gene_variant BRCA-EU 8 87402408 87402408 single base substitution C T intron_variant BRCA-EU 8 87403676 87403676 single base substitution G A downstream_gene_variant BRCA-EU 8 87403676 87403676 single base substitution G A intron_variant BRCA-EU 8 87403864 87403864 single base substitution C G downstream_gene_variant BRCA-EU 8 87403864 87403864 single base substitution C G intron_variant BRCA-EU 8 87405094 87405094 single base substitution G T intron_variant BRCA-EU 8 87405258 87405258 single base substitution C A intron_variant BRCA-EU 8 87405470 87405470 single base substitution C T intron_variant BRCA-EU 8 87406216 87406216 single base substitution T C intron_variant BRCA-EU 8 87407097 87407097 single base substitution G A intron_variant BRCA-EU 8 87408691 87408694 deletion of <=200bp TTTG - intron_variant BRCA-EU 8 87410555 87410555 single base substitution A G intron_variant BRCA-EU 8 87412254 87412254 single base substitution C G intron_variant BRCA-EU 8 87412404 87412404 deletion of <=200bp A - intron_variant BRCA-EU 8 87412404 87412404 deletion of <=200bp A - upstream_gene_variant BRCA-EU 8 87414235 87414235 deletion of <=200bp T - intron_variant BRCA-EU 8 87414235 87414235 deletion of <=200bp T - upstream_gene_variant BRCA-EU 8 87414627 87414627 single base substitution G T intron_variant BRCA-EU 8 87414627 87414627 single base substitution G T upstream_gene_variant BRCA-EU 8 87416744 87416744 single base substitution C G intron_variant BRCA-EU 8 87416744 87416744 single base substitution C G upstream_gene_variant BRCA-EU 8 87417063 87417063 single base substitution G T intron_variant BRCA-EU 8 87417063 87417063 single base substitution G T upstream_gene_variant BRCA-EU 8 87418405 87418405 single base substitution C A intron_variant BRCA-EU 8 87418441 87418441 single base substitution G C intron_variant BRCA-EU 8 87418466 87418466 single base substitution G T intron_variant BRCA-EU 8 87419505 87419505 single base substitution C G intron_variant BRCA-EU 8 87420345 87420345 single base substitution C T intron_variant BRCA-EU 8 87421151 87421151 single base substitution A T intron_variant BRCA-EU 8 87421152 87421152 single base substitution T A intron_variant BRCA-EU 8 87422624 87422624 single base substitution C G intron_variant BRCA-EU 8 87423694 87423694 single base substitution G C intron_variant BRCA-EU 8 87424168 87424168 single base substitution G T intron_variant BRCA-EU 8 87424946 87424946 single base substitution T G intron_variant BRCA-EU 8 87424946 87424946 single base substitution T G upstream_gene_variant BRCA-EU 8 87425055 87425055 single base substitution C G intron_variant BRCA-EU 8 87425055 87425055 single base substitution C G upstream_gene_variant BRCA-EU 8 87425087 87425087 single base substitution C T intron_variant BRCA-EU 8 87425087 87425087 single base substitution C T upstream_gene_variant BRCA-EU 8 87425375 87425375 single base substitution A G intron_variant BRCA-EU 8 87425375 87425375 single base substitution A G upstream_gene_variant BRCA-EU 8 87425655 87425655 single base substitution C T intron_variant BRCA-EU 8 87425655 87425655 single base substitution C T upstream_gene_variant BRCA-EU 8 87426447 87426447 single base substitution T A intron_variant BRCA-EU 8 87426447 87426447 single base substitution T A upstream_gene_variant BRCA-EU 8 87426772 87426772 single base substitution C T intron_variant BRCA-EU 8 87426772 87426772 single base substitution C T upstream_gene_variant BRCA-EU 8 87427544 87427544 single base substitution T G intron_variant BRCA-EU 8 87427544 87427544 single base substitution T G upstream_gene_variant BRCA-EU 8 87428713 87428714 deletion of <=200bp CT - intron_variant BRCA-EU 8 87428713 87428714 deletion of <=200bp CT - upstream_gene_variant BRCA-EU 8 87431177 87431177 single base substitution C T intron_variant BRCA-EU 8 87431708 87431708 insertion of <=200bp - A intron_variant BRCA-EU 8 87431872 87431873 deletion of <=200bp AG - intron_variant BRCA-EU 8 87432064 87432064 single base substitution C T intron_variant BRCA-EU 8 87433455 87433455 single base substitution G T intron_variant BRCA-EU 8 87434064 87434064 single base substitution T A intron_variant BRCA-EU 8 87434273 87434273 deletion of <=200bp A - intron_variant BRCA-EU 8 87435425 87435425 single base substitution T C intron_variant BRCA-EU 8 87436478 87436478 single base substitution C T intron_variant BRCA-EU 8 87438993 87439009 deletion of <=200bp AGTAATAAAAAGAGTTC - intron_variant BRCA-EU 8 87439229 87439229 deletion of <=200bp A - intron_variant BRCA-EU 8 87439565 87439565 single base substitution A G intron_variant BRCA-EU 8 87441082 87441082 single base substitution T G intron_variant BRCA-EU 8 87441983 87441983 single base substitution G T intron_variant BRCA-EU 8 87442178 87442178 single base substitution A T intron_variant BRCA-EU 8 87442388 87442388 deletion of <=200bp C - intron_variant BRCA-EU 8 87442688 87442688 deletion of <=200bp T - intron_variant BRCA-EU 8 87442688 87442688 deletion of <=200bp T - upstream_gene_variant BRCA-EU 8 87442731 87442731 single base substitution C A intron_variant BRCA-EU 8 87442731 87442731 single base substitution C A upstream_gene_variant BRCA-EU 8 87443807 87443807 single base substitution A G downstream_gene_variant BRCA-EU 8 87443807 87443807 single base substitution A G intron_variant BRCA-EU 8 87443807 87443807 single base substitution A G upstream_gene_variant BRCA-EU 8 87443860 87443860 deletion of <=200bp C - downstream_gene_variant BRCA-EU 8 87443860 87443860 deletion of <=200bp C - exon_variant BRCA-EU 8 87443860 87443860 deletion of <=200bp C - frameshift_variant P279 BRCA-EU 8 87443860 87443860 deletion of <=200bp C - frameshift_variant P367 BRCA-EU 8 87443860 87443860 deletion of <=200bp C - frameshift_variant P497 BRCA-EU 8 87443860 87443860 deletion of <=200bp C - upstream_gene_variant BRCA-EU 8 87445399 87445399 single base substitution C T downstream_gene_variant BRCA-EU 8 87445399 87445399 single base substitution C T intron_variant BRCA-EU 8 87445399 87445399 single base substitution C T upstream_gene_variant BRCA-EU 8 87446348 87446348 single base substitution C T downstream_gene_variant BRCA-EU 8 87446348 87446348 single base substitution C T intron_variant BRCA-EU 8 87446348 87446348 single base substitution C T upstream_gene_variant BRCA-EU 8 87446767 87446767 single base substitution T C downstream_gene_variant BRCA-EU 8 87446767 87446767 single base substitution T C intron_variant BRCA-EU 8 87446767 87446767 single base substitution T C upstream_gene_variant BRCA-EU 8 87446811 87446811 deletion of <=200bp T - downstream_gene_variant BRCA-EU 8 87446811 87446811 deletion of <=200bp T - intron_variant BRCA-EU 8 87446811 87446811 deletion of <=200bp T - upstream_gene_variant BRCA-EU 8 87447581 87447581 single base substitution G T downstream_gene_variant BRCA-EU 8 87447581 87447581 single base substitution G T intron_variant BRCA-EU 8 87447581 87447581 single base substitution G T upstream_gene_variant BRCA-EU 8 87447840 87447842 deletion of <=200bp ATG - downstream_gene_variant BRCA-EU 8 87447840 87447842 deletion of <=200bp ATG - exon_variant BRCA-EU 8 87447840 87447842 deletion of <=200bp ATG - intron_variant BRCA-EU 8 87447873 87447873 single base substitution A C downstream_gene_variant BRCA-EU 8 87447873 87447873 single base substitution A C exon_variant BRCA-EU 8 87447873 87447873 single base substitution A C synonymous_variant L27L 81A>C BRCA-EU 8 87447873 87447873 single base substitution A C synonymous_variant L345L 1035A>C BRCA-EU 8 87447873 87447873 single base substitution A C synonymous_variant L433L 1299A>C BRCA-EU 8 87447873 87447873 single base substitution A C synonymous_variant L563L 1689A>C BRCA-EU 8 87449492 87449492 single base substitution T C intron_variant BRCA-EU 8 87449775 87449775 single base substitution C A intron_variant BRCA-EU 8 87449775 87449775 single base substitution C A upstream_gene_variant BRCA-EU 8 87450413 87450413 single base substitution G T intron_variant BRCA-EU 8 87450413 87450413 single base substitution G T upstream_gene_variant BRCA-EU 8 87450416 87450416 single base substitution C A intron_variant BRCA-EU 8 87450416 87450416 single base substitution C A upstream_gene_variant BRCA-EU 8 87450417 87450417 single base substitution A C intron_variant BRCA-EU 8 87450417 87450417 single base substitution A C upstream_gene_variant BRCA-EU 8 87450418 87450418 single base substitution T A intron_variant BRCA-EU 8 87450418 87450418 single base substitution T A upstream_gene_variant BRCA-EU 8 87451415 87451415 deletion of <=200bp A - intron_variant BRCA-EU 8 87451415 87451415 deletion of <=200bp A - upstream_gene_variant BRCA-EU 8 87452187 87452187 single base substitution A G intron_variant BRCA-EU 8 87452187 87452187 single base substitution A G upstream_gene_variant BRCA-EU 8 87452792 87452792 single base substitution C A intron_variant BRCA-EU 8 87452792 87452792 single base substitution C A upstream_gene_variant BRCA-EU 8 87454853 87454853 single base substitution G A exon_variant BRCA-EU 8 87454853 87454853 single base substitution G A stop_gained W115* 344G>A BRCA-EU 8 87454853 87454853 single base substitution G A stop_gained W397* 1190G>A BRCA-EU 8 87454853 87454853 single base substitution G A stop_gained W485* 1454G>A BRCA-EU 8 87454853 87454853 single base substitution G A stop_gained W615* 1844G>A BRCA-EU 8 87455070 87455070 single base substitution T A intron_variant BRCA-EU 8 87455368 87455368 single base substitution C G intron_variant BRCA-EU 8 87458162 87458162 single base substitution T G intron_variant BRCA-EU 8 87459693 87459693 single base substitution C T intron_variant BRCA-EU 8 87460606 87460608 deletion of <=200bp AAC - exon_variant BRCA-EU 8 87460606 87460608 deletion of <=200bp AAC - inframe_deletion N213 BRCA-EU 8 87460606 87460608 deletion of <=200bp AAC - inframe_deletion N495 BRCA-EU 8 87460606 87460608 deletion of <=200bp AAC - inframe_deletion N583 BRCA-EU 8 87460606 87460608 deletion of <=200bp AAC - inframe_deletion N713 BRCA-EU 8 87461560 87461560 single base substitution C T downstream_gene_variant BRCA-EU 8 87461560 87461560 single base substitution C T intron_variant BRCA-EU 8 87462247 87462247 single base substitution A C downstream_gene_variant BRCA-EU 8 87462247 87462247 single base substitution A C intron_variant BRCA-EU 8 87463423 87463423 single base substitution C A downstream_gene_variant BRCA-EU 8 87463423 87463423 single base substitution C A intron_variant BRCA-EU 8 87464175 87464175 single base substitution T C downstream_gene_variant BRCA-EU 8 87464175 87464175 single base substitution T C intron_variant BRCA-EU 8 87465461 87465461 insertion of <=200bp - T downstream_gene_variant BRCA-EU 8 87465461 87465461 insertion of <=200bp - T intron_variant BRCA-EU 8 87465461 87465461 insertion of <=200bp - T upstream_gene_variant BRCA-EU 8 87466192 87466192 single base substitution C T downstream_gene_variant BRCA-EU 8 87466192 87466192 single base substitution C T intron_variant BRCA-EU 8 87466192 87466192 single base substitution C T upstream_gene_variant BRCA-EU 8 87466517 87466517 insertion of <=200bp - T downstream_gene_variant BRCA-EU 8 87466517 87466517 insertion of <=200bp - T intron_variant BRCA-EU 8 87466517 87466517 insertion of <=200bp - T upstream_gene_variant BRCA-EU 8 87466642 87466642 single base substitution C G downstream_gene_variant BRCA-EU 8 87466642 87466642 single base substitution C G intron_variant BRCA-EU 8 87466642 87466642 single base substitution C G upstream_gene_variant BRCA-EU 8 87467079 87467079 single base substitution C G downstream_gene_variant BRCA-EU 8 87467079 87467079 single base substitution C G intron_variant BRCA-EU 8 87467079 87467079 single base substitution C G upstream_gene_variant BRCA-EU 8 87467161 87467161 deletion of <=200bp A - downstream_gene_variant BRCA-EU 8 87467161 87467161 deletion of <=200bp A - intron_variant BRCA-EU 8 87467161 87467161 deletion of <=200bp A - upstream_gene_variant BRCA-EU 8 87467637 87467637 single base substitution C T downstream_gene_variant BRCA-EU 8 87467637 87467637 single base substitution C T intron_variant BRCA-EU 8 87467637 87467637 single base substitution C T upstream_gene_variant BRCA-EU 8 87467803 87467803 single base substitution C G downstream_gene_variant BRCA-EU 8 87467803 87467803 single base substitution C G intron_variant BRCA-EU 8 87467803 87467803 single base substitution C G upstream_gene_variant BRCA-EU 8 87470334 87470334 deletion of <=200bp T - intron_variant BRCA-EU 8 87470334 87470334 deletion of <=200bp T - upstream_gene_variant BRCA-EU 8 87470787 87470787 single base substitution T C intron_variant BRCA-EU 8 87470787 87470787 single base substitution T C upstream_gene_variant BRCA-EU 8 87471454 87471454 single base substitution G C intron_variant BRCA-EU 8 87471454 87471454 single base substitution G C upstream_gene_variant BRCA-EU 8 87471624 87471624 single base substitution C A intron_variant BRCA-EU 8 87471624 87471624 single base substitution C A upstream_gene_variant BRCA-EU 8 87476299 87476299 deletion of <=200bp A - downstream_gene_variant BRCA-EU 8 87476299 87476299 deletion of <=200bp A - intron_variant BRCA-EU 8 87480086 87480086 single base substitution A G 3_prime_UTR_variant BRCA-EU 8 87480086 87480086 single base substitution A G downstream_gene_variant BRCA-EU 8 87480086 87480086 single base substitution A G intron_variant BRCA-EU 8 87480619 87480619 single base substitution A C 3_prime_UTR_variant BRCA-EU 8 87480619 87480619 single base substitution A C downstream_gene_variant BRCA-EU 8 87480619 87480619 single base substitution A C intron_variant BRCA-EU 8 87481423 87481423 single base substitution A C downstream_gene_variant BRCA-EU 8 87481423 87481423 single base substitution A C intron_variant BRCA-EU 8 87481606 87481606 deletion of <=200bp T - downstream_gene_variant BRCA-EU 8 87481606 87481606 deletion of <=200bp T - intron_variant BRCA-EU 8 87482984 87482984 single base substitution T G downstream_gene_variant BRCA-EU 8 87482984 87482984 single base substitution T G intron_variant BRCA-EU 8 87482991 87482991 deletion of <=200bp A - downstream_gene_variant BRCA-EU 8 87482991 87482991 deletion of <=200bp A - intron_variant BRCA-EU 8 87483629 87483629 single base substitution G T downstream_gene_variant BRCA-EU 8 87483629 87483629 single base substitution G T intron_variant BRCA-EU 8 87483682 87483682 single base substitution A G downstream_gene_variant BRCA-EU 8 87483682 87483682 single base substitution A G intron_variant BRCA-EU 8 87484375 87484375 single base substitution T C downstream_gene_variant BRCA-EU 8 87484375 87484375 single base substitution T C intron_variant BRCA-EU 8 87485937 87485937 single base substitution G A intron_variant BRCA-EU 8 87486701 87486701 single base substitution T G intron_variant BRCA-EU 8 87488000 87488000 single base substitution A C intron_variant BRCA-EU 8 87489625 87489625 single base substitution C G intron_variant BRCA-EU 8 87489856 87489856 single base substitution G A intron_variant BRCA-EU 8 87491103 87491103 single base substitution C T downstream_gene_variant BRCA-EU 8 87491635 87491635 single base substitution C G downstream_gene_variant BRCA-EU 8 87491784 87491784 single base substitution G A downstream_gene_variant BRCA-EU 8 87494091 87494091 single base substitution T A downstream_gene_variant BRCA-EU 8 87494634 87494634 deletion of <=200bp A - downstream_gene_variant BRCA-FR 8 87352346 87352346 single base substitution C G upstream_gene_variant BRCA-FR 8 87362685 87362685 single base substitution A G intron_variant BRCA-FR 8 87365101 87365101 single base substitution C G intron_variant BRCA-FR 8 87365908 87365908 single base substitution C T intron_variant BRCA-FR 8 87392486 87392486 single base substitution A C intron_variant BRCA-FR 8 87392486 87392486 single base substitution A C upstream_gene_variant BRCA-FR 8 87395792 87395792 single base substitution G A intron_variant BRCA-FR 8 87395890 87395890 single base substitution G C intron_variant BRCA-FR 8 87397028 87397028 single base substitution G C intron_variant BRCA-FR 8 87400716 87400716 single base substitution C T downstream_gene_variant BRCA-FR 8 87400716 87400716 single base substitution C T intron_variant BRCA-FR 8 87400775 87400775 single base substitution C G downstream_gene_variant BRCA-FR 8 87400775 87400775 single base substitution C G intron_variant BRCA-FR 8 87405470 87405470 single base substitution C T intron_variant BRCA-FR 8 87412549 87412549 single base substitution A G intron_variant BRCA-FR 8 87412549 87412549 single base substitution A G upstream_gene_variant BRCA-FR 8 87447972 87447972 single base substitution C A downstream_gene_variant BRCA-FR 8 87447972 87447972 single base substitution C A intron_variant BRCA-FR 8 87469580 87469580 single base substitution G C downstream_gene_variant BRCA-FR 8 87469580 87469580 single base substitution G C intron_variant BRCA-FR 8 87469580 87469580 single base substitution G C upstream_gene_variant BRCA-FR 8 87483629 87483629 single base substitution G T downstream_gene_variant BRCA-FR 8 87483629 87483629 single base substitution G T intron_variant BRCA-FR 8 87483682 87483682 single base substitution A G downstream_gene_variant BRCA-FR 8 87483682 87483682 single base substitution A G intron_variant BRCA-FR 8 87489625 87489625 single base substitution C G intron_variant BRCA-FR 8 87491103 87491103 single base substitution C T downstream_gene_variant BRCA-FR 8 87494091 87494091 single base substitution T A downstream_gene_variant BRCA-UK 8 87352502 87352502 single base substitution A T upstream_gene_variant BRCA-UK 8 87380803 87380803 single base substitution C T intron_variant BRCA-UK 8 87382564 87382564 single base substitution G C intron_variant BRCA-UK 8 87382564 87382564 single base substitution G C upstream_gene_variant BRCA-UK 8 87425935 87425935 single base substitution G A intron_variant BRCA-UK 8 87425935 87425935 single base substitution G A upstream_gene_variant BRCA-UK 8 87447581 87447581 single base substitution G T downstream_gene_variant BRCA-UK 8 87447581 87447581 single base substitution G T intron_variant BRCA-UK 8 87447581 87447581 single base substitution G T upstream_gene_variant BRCA-US 8 87437451 87437451 single base substitution G A splice_acceptor_variant BRCA-US 8 87437463 87437463 single base substitution G T exon_variant BRCA-US 8 87437463 87437463 single base substitution G T missense_variant R140I 419G>T BRCA-US 8 87437463 87437463 single base substitution G T missense_variant R228I 683G>T BRCA-US 8 87437463 87437463 single base substitution G T missense_variant R358I 1073G>T BRCA-US 8 87443920 87443920 single base substitution C T downstream_gene_variant BRCA-US 8 87443920 87443920 single base substitution C T exon_variant BRCA-US 8 87443920 87443920 single base substitution C T missense_variant H299Y 895C>T BRCA-US 8 87443920 87443920 single base substitution C T missense_variant H387Y 1159C>T BRCA-US 8 87443920 87443920 single base substitution C T missense_variant H517Y 1549C>T BRCA-US 8 87443920 87443920 single base substitution C T upstream_gene_variant BRCA-US 8 87454969 87454969 single base substitution C G exon_variant BRCA-US 8 87454969 87454969 single base substitution C G missense_variant L154V 460C>G BRCA-US 8 87454969 87454969 single base substitution C G missense_variant L436V 1306C>G BRCA-US 8 87454969 87454969 single base substitution C G missense_variant L524V 1570C>G BRCA-US 8 87454969 87454969 single base substitution C G missense_variant L654V 1960C>G BRCA-US 8 87460386 87460386 single base substitution C T exon_variant BRCA-US 8 87460386 87460386 single base substitution C T missense_variant H170Y 508C>T BRCA-US 8 87460386 87460386 single base substitution C T missense_variant H452Y 1354C>T BRCA-US 8 87460386 87460386 single base substitution C T missense_variant H540Y 1618C>T BRCA-US 8 87460386 87460386 single base substitution C T missense_variant H670Y 2008C>T BRCA-US 8 87460602 87460602 single base substitution A G exon_variant BRCA-US 8 87460602 87460602 single base substitution A G splice_region_variant BRCA-US 8 87464813 87464813 single base substitution C T downstream_gene_variant BRCA-US 8 87464813 87464813 single base substitution C T exon_variant BRCA-US 8 87464813 87464813 single base substitution C T stop_gained R549* 1645C>T BRCA-US 8 87464813 87464813 single base substitution C T stop_gained R637* 1909C>T BRCA-US 8 87464813 87464813 single base substitution C T stop_gained R767* 2299C>T BRCA-US 8 87486571 87486571 single base substitution G T intron_variant BRCA-US 8 87489536 87489536 single base substitution G A intron_variant BTCA-JP 8 87392945 87392948 deletion of <=200bp TGTC - intron_variant BTCA-JP 8 87392945 87392948 deletion of <=200bp TGTC - splice_region_variant BTCA-JP 8 87392945 87392948 deletion of <=200bp TGTC - upstream_gene_variant BTCA-JP 8 87437515 87437515 single base substitution C G exon_variant BTCA-JP 8 87437515 87437515 single base substitution C G synonymous_variant T157T 471C>G BTCA-JP 8 87437515 87437515 single base substitution C G synonymous_variant T245T 735C>G BTCA-JP 8 87437515 87437515 single base substitution C G synonymous_variant T375T 1125C>G BTCA-JP 8 87440093 87440093 single base substitution G C intron_variant BTCA-JP 8 87443872 87443872 single base substitution G A downstream_gene_variant BTCA-JP 8 87443872 87443872 single base substitution G A exon_variant BTCA-JP 8 87443872 87443872 single base substitution G A missense_variant G283S 847G>A BTCA-JP 8 87443872 87443872 single base substitution G A missense_variant G371S 1111G>A BTCA-JP 8 87443872 87443872 single base substitution G A missense_variant G501S 1501G>A BTCA-JP 8 87443872 87443872 single base substitution G A upstream_gene_variant BTCA-JP 8 87464962 87464962 single base substitution A G downstream_gene_variant BTCA-JP 8 87464962 87464962 single base substitution A G intron_variant CLLE-ES 8 87364859 87364859 single base substitution A T intron_variant CLLE-ES 8 87376763 87376763 single base substitution C A intron_variant CLLE-ES 8 87386854 87386854 single base substitution C T intron_variant CLLE-ES 8 87415605 87415605 single base substitution A G intron_variant CLLE-ES 8 87415605 87415605 single base substitution A G upstream_gene_variant CLLE-ES 8 87439665 87439665 single base substitution G A intron_variant CLLE-ES 8 87441967 87441967 single base substitution T C intron_variant CLLE-ES 8 87450017 87450017 single base substitution A G intron_variant CLLE-ES 8 87450017 87450017 single base substitution A G upstream_gene_variant CLLE-ES 8 87453869 87453869 single base substitution G T intron_variant CLLE-ES 8 87453869 87453869 single base substitution G T upstream_gene_variant CLLE-ES 8 87492306 87492306 single base substitution T A downstream_gene_variant COAD-US 8 87386283 87386283 single base substitution G A exon_variant COAD-US 8 87386283 87386283 single base substitution G A missense_variant A2T 4G>A COAD-US 8 87386304 87386304 single base substitution G C exon_variant COAD-US 8 87386304 87386304 single base substitution G C missense_variant D9H 25G>C COAD-US 8 87393738 87393738 single base substitution G A exon_variant COAD-US 8 87393738 87393738 single base substitution G A intron_variant COAD-US 8 87393738 87393738 single base substitution G A missense_variant V72I 214G>A COAD-US 8 87393787 87393787 single base substitution T A exon_variant COAD-US 8 87393787 87393787 single base substitution T A intron_variant COAD-US 8 87393787 87393787 single base substitution T A stop_gained L88* 263T>A COAD-US 8 87393788 87393788 single base substitution A T exon_variant COAD-US 8 87393788 87393788 single base substitution A T intron_variant COAD-US 8 87393788 87393788 single base substitution A T missense_variant L88F 264A>T COAD-US 8 87393817 87393817 single base substitution C T exon_variant COAD-US 8 87393817 87393817 single base substitution C T intron_variant COAD-US 8 87393817 87393817 single base substitution C T missense_variant T98M 293C>T COAD-US 8 87424060 87424060 single base substitution C T exon_variant COAD-US 8 87424060 87424060 single base substitution C T missense_variant R122W 364C>T COAD-US 8 87424060 87424060 single base substitution C T missense_variant R210W 628C>T COAD-US 8 87424060 87424060 single base substitution C T missense_variant R340W 1018C>T COAD-US 8 87424079 87424079 single base substitution C T exon_variant COAD-US 8 87424079 87424079 single base substitution C T missense_variant A128V 383C>T COAD-US 8 87424079 87424079 single base substitution C T missense_variant A216V 647C>T COAD-US 8 87424079 87424079 single base substitution C T missense_variant A346V 1037C>T COAD-US 8 87439994 87439994 single base substitution G A exon_variant COAD-US 8 87439994 87439994 single base substitution G A missense_variant R209Q 626G>A COAD-US 8 87439994 87439994 single base substitution G A missense_variant R297Q 890G>A COAD-US 8 87439994 87439994 single base substitution G A missense_variant R427Q 1280G>A COAD-US 8 87442950 87442950 single base substitution G T downstream_gene_variant COAD-US 8 87442950 87442950 single base substitution G T exon_variant COAD-US 8 87442950 87442950 single base substitution G T missense_variant D235Y 703G>T COAD-US 8 87442950 87442950 single base substitution G T missense_variant D323Y 967G>T COAD-US 8 87442950 87442950 single base substitution G T missense_variant D453Y 1357G>T COAD-US 8 87442950 87442950 single base substitution G T upstream_gene_variant COAD-US 8 87460618 87460618 single base substitution G T exon_variant COAD-US 8 87460618 87460618 single base substitution G T stop_gained E217* 649G>T COAD-US 8 87460618 87460618 single base substitution G T stop_gained E499* 1495G>T COAD-US 8 87460618 87460618 single base substitution G T stop_gained E587* 1759G>T COAD-US 8 87460618 87460618 single base substitution G T stop_gained E717* 2149G>T COAD-US 8 87460648 87460648 single base substitution G C exon_variant COAD-US 8 87460648 87460648 single base substitution G C missense_variant D227H 679G>C COAD-US 8 87460648 87460648 single base substitution G C missense_variant D509H 1525G>C COAD-US 8 87460648 87460648 single base substitution G C missense_variant D597H 1789G>C COAD-US 8 87460648 87460648 single base substitution G C missense_variant D727H 2179G>C COAD-US 8 87460711 87460711 single base substitution G A downstream_gene_variant COAD-US 8 87460711 87460711 single base substitution G A exon_variant COAD-US 8 87460711 87460711 single base substitution G A missense_variant V530M 1588G>A COAD-US 8 87460711 87460711 single base substitution G A missense_variant V618M 1852G>A COAD-US 8 87460711 87460711 single base substitution G A missense_variant V748M 2242G>A COAD-US 8 87464805 87464805 single base substitution G A downstream_gene_variant COAD-US 8 87464805 87464805 single base substitution G A exon_variant COAD-US 8 87464805 87464805 single base substitution G A missense_variant R546H 1637G>A COAD-US 8 87464805 87464805 single base substitution G A missense_variant R634H 1901G>A COAD-US 8 87464805 87464805 single base substitution G A missense_variant R764H 2291G>A COCA-CN 8 87358918 87358918 single base substitution T C intron_variant COCA-CN 8 87367934 87367934 single base substitution T A intron_variant COCA-CN 8 87370710 87370710 single base substitution T G intron_variant COCA-CN 8 87373240 87373240 single base substitution G A intron_variant COCA-CN 8 87374654 87374654 single base substitution A G intron_variant COCA-CN 8 87381607 87381607 single base substitution A G intron_variant COCA-CN 8 87381607 87381607 single base substitution A G upstream_gene_variant COCA-CN 8 87385740 87385740 single base substitution C G intron_variant COCA-CN 8 87385740 87385740 single base substitution C G upstream_gene_variant COCA-CN 8 87386435 87386435 single base substitution G T intron_variant COCA-CN 8 87401367 87401367 single base substitution A G downstream_gene_variant COCA-CN 8 87401367 87401367 single base substitution A G intron_variant COCA-CN 8 87415594 87415594 single base substitution G A intron_variant COCA-CN 8 87415594 87415594 single base substitution G A upstream_gene_variant COCA-CN 8 87421445 87421445 single base substitution C T intron_variant COCA-CN 8 87421451 87421451 single base substitution C T intron_variant COCA-CN 8 87430042 87430042 single base substitution A C intron_variant COCA-CN 8 87436048 87436048 single base substitution C T intron_variant COCA-CN 8 87436634 87436634 single base substitution C T intron_variant COCA-CN 8 87436982 87436982 single base substitution C T intron_variant COCA-CN 8 87439901 87439901 single base substitution G T exon_variant COCA-CN 8 87439901 87439901 single base substitution G T missense_variant R178I 533G>T COCA-CN 8 87439901 87439901 single base substitution G T missense_variant R266I 797G>T COCA-CN 8 87439901 87439901 single base substitution G T missense_variant R396I 1187G>T COCA-CN 8 87445917 87445917 single base substitution A G downstream_gene_variant COCA-CN 8 87445917 87445917 single base substitution A G intron_variant COCA-CN 8 87445917 87445917 single base substitution A G upstream_gene_variant COCA-CN 8 87454994 87454994 single base substitution G A exon_variant COCA-CN 8 87454994 87454994 single base substitution G A missense_variant R162H 485G>A COCA-CN 8 87454994 87454994 single base substitution G A missense_variant R444H 1331G>A COCA-CN 8 87454994 87454994 single base substitution G A missense_variant R532H 1595G>A COCA-CN 8 87454994 87454994 single base substitution G A missense_variant R662H 1985G>A COCA-CN 8 87455070 87455070 single base substitution T A intron_variant COCA-CN 8 87464993 87464993 single base substitution A G downstream_gene_variant COCA-CN 8 87464993 87464993 single base substitution A G intron_variant COCA-CN 8 87471239 87471239 single base substitution C T intron_variant COCA-CN 8 87471239 87471239 single base substitution C T upstream_gene_variant COCA-CN 8 87473317 87473317 single base substitution T C intron_variant COCA-CN 8 87473317 87473317 single base substitution T C upstream_gene_variant COCA-CN 8 87482324 87482324 single base substitution C T downstream_gene_variant COCA-CN 8 87482324 87482324 single base substitution C T intron_variant COCA-CN 8 87484556 87484556 single base substitution A C downstream_gene_variant COCA-CN 8 87484556 87484556 single base substitution A C intron_variant COCA-CN 8 87486894 87486894 single base substitution G T intron_variant COCA-CN 8 87494091 87494091 single base substitution T A downstream_gene_variant COCA-CN 8 87494138 87494138 single base substitution C T downstream_gene_variant EOPC-DE 8 87353020 87353020 single base substitution G A upstream_gene_variant EOPC-DE 8 87404996 87404996 single base substitution C G intron_variant EOPC-DE 8 87421152 87421152 single base substitution T A intron_variant EOPC-DE 8 87423707 87423707 single base substitution T C intron_variant EOPC-DE 8 87434405 87434405 single base substitution G A intron_variant EOPC-DE 8 87475600 87475600 single base substitution A G downstream_gene_variant EOPC-DE 8 87475600 87475600 single base substitution A G intron_variant EOPC-DE 8 87479227 87479227 single base substitution C T 3_prime_UTR_variant EOPC-DE 8 87479227 87479227 single base substitution C T intron_variant ESAD-UK 8 87350117 87350117 single base substitution T C upstream_gene_variant ESAD-UK 8 87350773 87350773 single base substitution T A upstream_gene_variant ESAD-UK 8 87351684 87351684 single base substitution G A upstream_gene_variant ESAD-UK 8 87354006 87354006 single base substitution C T upstream_gene_variant ESAD-UK 8 87358063 87358063 single base substitution G A intron_variant ESAD-UK 8 87359377 87359377 single base substitution C G intron_variant ESAD-UK 8 87360196 87360196 single base substitution A G intron_variant ESAD-UK 8 87360374 87360374 single base substitution G A intron_variant ESAD-UK 8 87361059 87361059 single base substitution C T intron_variant ESAD-UK 8 87361528 87361528 single base substitution G A intron_variant ESAD-UK 8 87362126 87362126 single base substitution G A intron_variant ESAD-UK 8 87362826 87362826 single base substitution A C intron_variant ESAD-UK 8 87364376 87364376 single base substitution C T intron_variant ESAD-UK 8 87364545 87364545 single base substitution C T intron_variant ESAD-UK 8 87365568 87365568 single base substitution C G intron_variant ESAD-UK 8 87368179 87368179 single base substitution C T intron_variant ESAD-UK 8 87368268 87368268 single base substitution C T intron_variant ESAD-UK 8 87368678 87368678 single base substitution A T intron_variant ESAD-UK 8 87368680 87368680 insertion of <=200bp - A intron_variant ESAD-UK 8 87370594 87370594 single base substitution C T intron_variant ESAD-UK 8 87370708 87370708 single base substitution A G intron_variant ESAD-UK 8 87373041 87373041 single base substitution G C intron_variant ESAD-UK 8 87373788 87373788 single base substitution A C intron_variant ESAD-UK 8 87374022 87374022 single base substitution G A intron_variant ESAD-UK 8 87374960 87374960 single base substitution G C intron_variant ESAD-UK 8 87376352 87376352 single base substitution T A intron_variant ESAD-UK 8 87376568 87376568 single base substitution A G intron_variant ESAD-UK 8 87381626 87381626 single base substitution T G intron_variant ESAD-UK 8 87381626 87381626 single base substitution T G upstream_gene_variant ESAD-UK 8 87383744 87383744 single base substitution T G intron_variant ESAD-UK 8 87383744 87383744 single base substitution T G upstream_gene_variant ESAD-UK 8 87384019 87384019 single base substitution T C intron_variant ESAD-UK 8 87384019 87384019 single base substitution T C upstream_gene_variant ESAD-UK 8 87384792 87384792 single base substitution C T intron_variant ESAD-UK 8 87384792 87384792 single base substitution C T upstream_gene_variant ESAD-UK 8 87385336 87385336 single base substitution T G intron_variant ESAD-UK 8 87385336 87385336 single base substitution T G upstream_gene_variant ESAD-UK 8 87386876 87386876 single base substitution G C intron_variant ESAD-UK 8 87387118 87387118 single base substitution T A intron_variant ESAD-UK 8 87387149 87387149 single base substitution C A intron_variant ESAD-UK 8 87387921 87387921 single base substitution C T intron_variant ESAD-UK 8 87388394 87388394 single base substitution T A intron_variant ESAD-UK 8 87388394 87388394 single base substitution T A upstream_gene_variant ESAD-UK 8 87390392 87390392 single base substitution T G intron_variant ESAD-UK 8 87390392 87390392 single base substitution T G upstream_gene_variant ESAD-UK 8 87390537 87390537 single base substitution A G intron_variant ESAD-UK 8 87390537 87390537 single base substitution A G upstream_gene_variant ESAD-UK 8 87390558 87390558 insertion of <=200bp - T intron_variant ESAD-UK 8 87390558 87390558 insertion of <=200bp - T upstream_gene_variant ESAD-UK 8 87392483 87392483 single base substitution A G intron_variant ESAD-UK 8 87392483 87392483 single base substitution A G upstream_gene_variant ESAD-UK 8 87392507 87392507 single base substitution C G intron_variant ESAD-UK 8 87392507 87392507 single base substitution C G upstream_gene_variant ESAD-UK 8 87395663 87395663 single base substitution G A intron_variant ESAD-UK 8 87397169 87397169 single base substitution C T intron_variant ESAD-UK 8 87397317 87397317 single base substitution C T intron_variant ESAD-UK 8 87400751 87400751 single base substitution C T downstream_gene_variant ESAD-UK 8 87400751 87400751 single base substitution C T intron_variant ESAD-UK 8 87402149 87402149 single base substitution C T downstream_gene_variant ESAD-UK 8 87402149 87402149 single base substitution C T intron_variant ESAD-UK 8 87403815 87403815 single base substitution C T downstream_gene_variant ESAD-UK 8 87403815 87403815 single base substitution C T intron_variant ESAD-UK 8 87405493 87405493 single base substitution T A intron_variant ESAD-UK 8 87406925 87406925 single base substitution G T intron_variant ESAD-UK 8 87407442 87407442 single base substitution A G intron_variant ESAD-UK 8 87407477 87407477 single base substitution G A intron_variant ESAD-UK 8 87411103 87411103 single base substitution T A intron_variant ESAD-UK 8 87412515 87412515 single base substitution C T intron_variant ESAD-UK 8 87412515 87412515 single base substitution C T upstream_gene_variant ESAD-UK 8 87412568 87412568 deletion of <=200bp A - intron_variant ESAD-UK 8 87412568 87412568 deletion of <=200bp A - upstream_gene_variant ESAD-UK 8 87415449 87415449 single base substitution A T intron_variant ESAD-UK 8 87415449 87415449 single base substitution A T upstream_gene_variant ESAD-UK 8 87415710 87415710 single base substitution G A intron_variant ESAD-UK 8 87415710 87415710 single base substitution G A upstream_gene_variant ESAD-UK 8 87417698 87417698 single base substitution C G intron_variant ESAD-UK 8 87418089 87418089 single base substitution T G intron_variant ESAD-UK 8 87419148 87419148 single base substitution T C intron_variant ESAD-UK 8 87420840 87420840 deletion of <=200bp T - intron_variant ESAD-UK 8 87420845 87420845 single base substitution T A intron_variant ESAD-UK 8 87423423 87423423 single base substitution C T intron_variant ESAD-UK 8 87425146 87425146 single base substitution C T intron_variant ESAD-UK 8 87425146 87425146 single base substitution C T upstream_gene_variant ESAD-UK 8 87426889 87426889 single base substitution C G intron_variant ESAD-UK 8 87426889 87426889 single base substitution C G upstream_gene_variant ESAD-UK 8 87426972 87426972 single base substitution T A intron_variant ESAD-UK 8 87426972 87426972 single base substitution T A upstream_gene_variant ESAD-UK 8 87431333 87431333 single base substitution A G intron_variant ESAD-UK 8 87432993 87432993 single base substitution A T intron_variant ESAD-UK 8 87435456 87435456 single base substitution A T intron_variant ESAD-UK 8 87439267 87439267 single base substitution C A intron_variant ESAD-UK 8 87440046 87440046 single base substitution G A splice_region_variant ESAD-UK 8 87440311 87440311 single base substitution A C intron_variant ESAD-UK 8 87441083 87441083 single base substitution T C intron_variant ESAD-UK 8 87442297 87442297 single base substitution G A intron_variant ESAD-UK 8 87442443 87442443 single base substitution G A intron_variant ESAD-UK 8 87443867 87443867 single base substitution C T downstream_gene_variant ESAD-UK 8 87443867 87443867 single base substitution C T exon_variant ESAD-UK 8 87443867 87443867 single base substitution C T missense_variant P281L 842C>T ESAD-UK 8 87443867 87443867 single base substitution C T missense_variant P369L 1106C>T ESAD-UK 8 87443867 87443867 single base substitution C T missense_variant P499L 1496C>T ESAD-UK 8 87443867 87443867 single base substitution C T upstream_gene_variant ESAD-UK 8 87445073 87445073 single base substitution G T downstream_gene_variant ESAD-UK 8 87445073 87445073 single base substitution G T intron_variant ESAD-UK 8 87445073 87445073 single base substitution G T upstream_gene_variant ESAD-UK 8 87445158 87445158 single base substitution C T downstream_gene_variant ESAD-UK 8 87445158 87445158 single base substitution C T intron_variant ESAD-UK 8 87445158 87445158 single base substitution C T upstream_gene_variant ESAD-UK 8 87445507 87445507 single base substitution T C downstream_gene_variant ESAD-UK 8 87445507 87445507 single base substitution T C intron_variant ESAD-UK 8 87445507 87445507 single base substitution T C upstream_gene_variant ESAD-UK 8 87445694 87445694 single base substitution G A downstream_gene_variant ESAD-UK 8 87445694 87445694 single base substitution G A intron_variant ESAD-UK 8 87445694 87445694 single base substitution G A upstream_gene_variant ESAD-UK 8 87446215 87446215 single base substitution A G downstream_gene_variant ESAD-UK 8 87446215 87446215 single base substitution A G intron_variant ESAD-UK 8 87446215 87446215 single base substitution A G upstream_gene_variant ESAD-UK 8 87448339 87448339 single base substitution G A downstream_gene_variant ESAD-UK 8 87448339 87448339 single base substitution G A intron_variant ESAD-UK 8 87449362 87449362 single base substitution C T intron_variant ESAD-UK 8 87451730 87451734 deletion of <=200bp TTTTC - intron_variant ESAD-UK 8 87451730 87451734 deletion of <=200bp TTTTC - upstream_gene_variant ESAD-UK 8 87452371 87452371 single base substitution A T intron_variant ESAD-UK 8 87452371 87452371 single base substitution A T upstream_gene_variant ESAD-UK 8 87453097 87453097 single base substitution G A intron_variant ESAD-UK 8 87453097 87453097 single base substitution G A upstream_gene_variant ESAD-UK 8 87453388 87453388 single base substitution A T intron_variant ESAD-UK 8 87453388 87453388 single base substitution A T upstream_gene_variant ESAD-UK 8 87455467 87455467 single base substitution A T intron_variant ESAD-UK 8 87456614 87456614 single base substitution C T intron_variant ESAD-UK 8 87457627 87457627 single base substitution A C intron_variant ESAD-UK 8 87458032 87458032 single base substitution C T intron_variant ESAD-UK 8 87458924 87458924 deletion of <=200bp G - intron_variant ESAD-UK 8 87459660 87459660 single base substitution T C intron_variant ESAD-UK 8 87459701 87459701 single base substitution T G intron_variant ESAD-UK 8 87460554 87460554 single base substitution A T exon_variant ESAD-UK 8 87460554 87460554 single base substitution A T intron_variant ESAD-UK 8 87461427 87461427 single base substitution C G downstream_gene_variant ESAD-UK 8 87461427 87461427 single base substitution C G intron_variant ESAD-UK 8 87462628 87462628 single base substitution C A downstream_gene_variant ESAD-UK 8 87462628 87462628 single base substitution C A intron_variant ESAD-UK 8 87463311 87463311 single base substitution A T downstream_gene_variant ESAD-UK 8 87463311 87463311 single base substitution A T intron_variant ESAD-UK 8 87468744 87468744 single base substitution C T downstream_gene_variant ESAD-UK 8 87468744 87468744 single base substitution C T intron_variant ESAD-UK 8 87468744 87468744 single base substitution C T upstream_gene_variant ESAD-UK 8 87470251 87470251 single base substitution G T exon_variant ESAD-UK 8 87470251 87470251 single base substitution G T missense_variant W614C 1842G>T ESAD-UK 8 87470251 87470251 single base substitution G T missense_variant W702C 2106G>T ESAD-UK 8 87470251 87470251 single base substitution G T missense_variant W832C 2496G>T ESAD-UK 8 87470251 87470251 single base substitution G T upstream_gene_variant ESAD-UK 8 87470700 87470700 insertion of <=200bp - T intron_variant ESAD-UK 8 87470700 87470700 insertion of <=200bp - T upstream_gene_variant ESAD-UK 8 87472194 87472194 single base substitution T G intron_variant ESAD-UK 8 87472194 87472194 single base substitution T G upstream_gene_variant ESAD-UK 8 87473500 87473500 single base substitution C T exon_variant ESAD-UK 8 87473500 87473500 single base substitution C T synonymous_variant F15F 45C>T ESAD-UK 8 87473500 87473500 single base substitution C T synonymous_variant F631F 1893C>T ESAD-UK 8 87473500 87473500 single base substitution C T synonymous_variant F719F 2157C>T ESAD-UK 8 87473500 87473500 single base substitution C T synonymous_variant F849F 2547C>T ESAD-UK 8 87473796 87473796 single base substitution G T exon_variant ESAD-UK 8 87473796 87473796 single base substitution G T intron_variant ESAD-UK 8 87474753 87474753 single base substitution C T downstream_gene_variant ESAD-UK 8 87474753 87474753 single base substitution C T intron_variant ESAD-UK 8 87475064 87475064 single base substitution A G downstream_gene_variant ESAD-UK 8 87475064 87475064 single base substitution A G intron_variant ESAD-UK 8 87475539 87475539 insertion of <=200bp - T downstream_gene_variant ESAD-UK 8 87475539 87475539 insertion of <=200bp - T intron_variant ESAD-UK 8 87475634 87475634 single base substitution C A downstream_gene_variant ESAD-UK 8 87475634 87475634 single base substitution C A intron_variant ESAD-UK 8 87476455 87476455 single base substitution A G downstream_gene_variant ESAD-UK 8 87476455 87476455 single base substitution A G intron_variant ESAD-UK 8 87476590 87476590 deletion of <=200bp T - downstream_gene_variant ESAD-UK 8 87476590 87476590 deletion of <=200bp T - intron_variant ESAD-UK 8 87477072 87477072 single base substitution G C downstream_gene_variant ESAD-UK 8 87477072 87477072 single base substitution G C intron_variant ESAD-UK 8 87477393 87477393 single base substitution G T downstream_gene_variant ESAD-UK 8 87477393 87477393 single base substitution G T intron_variant ESAD-UK 8 87478764 87478764 deletion of <=200bp G - downstream_gene_variant ESAD-UK 8 87478764 87478764 deletion of <=200bp G - intron_variant ESAD-UK 8 87478906 87478906 single base substitution T G downstream_gene_variant ESAD-UK 8 87478906 87478906 single base substitution T G intron_variant ESAD-UK 8 87479275 87479275 single base substitution C T 3_prime_UTR_variant ESAD-UK 8 87479275 87479275 single base substitution C T intron_variant ESAD-UK 8 87479489 87479489 single base substitution T G 3_prime_UTR_variant ESAD-UK 8 87479489 87479489 single base substitution T G intron_variant ESAD-UK 8 87479606 87479606 single base substitution A T 3_prime_UTR_variant ESAD-UK 8 87479606 87479606 single base substitution A T intron_variant ESAD-UK 8 87480125 87480125 single base substitution A T 3_prime_UTR_variant ESAD-UK 8 87480125 87480125 single base substitution A T downstream_gene_variant ESAD-UK 8 87480125 87480125 single base substitution A T intron_variant ESAD-UK 8 87480350 87480350 single base substitution A T 3_prime_UTR_variant ESAD-UK 8 87480350 87480350 single base substitution A T downstream_gene_variant ESAD-UK 8 87480350 87480350 single base substitution A T intron_variant ESAD-UK 8 87480639 87480639 single base substitution G A 3_prime_UTR_variant ESAD-UK 8 87480639 87480639 single base substitution G A downstream_gene_variant ESAD-UK 8 87480639 87480639 single base substitution G A intron_variant ESAD-UK 8 87480776 87480776 single base substitution T A downstream_gene_variant ESAD-UK 8 87480776 87480776 single base substitution T A intron_variant ESAD-UK 8 87481393 87481393 deletion of <=200bp T - downstream_gene_variant ESAD-UK 8 87481393 87481393 deletion of <=200bp T - intron_variant ESAD-UK 8 87481393 87481393 insertion of <=200bp - T downstream_gene_variant ESAD-UK 8 87481393 87481393 insertion of <=200bp - T intron_variant ESAD-UK 8 87481415 87481415 insertion of <=200bp - C downstream_gene_variant ESAD-UK 8 87481415 87481415 insertion of <=200bp - C intron_variant ESAD-UK 8 87481559 87481559 single base substitution C T downstream_gene_variant ESAD-UK 8 87481559 87481559 single base substitution C T intron_variant ESAD-UK 8 87485171 87485171 single base substitution A G downstream_gene_variant ESAD-UK 8 87485171 87485171 single base substitution A G intron_variant ESAD-UK 8 87486955 87486955 single base substitution G C intron_variant ESAD-UK 8 87488089 87488089 single base substitution G A intron_variant ESAD-UK 8 87491283 87491283 single base substitution C G downstream_gene_variant ESAD-UK 8 87493432 87493432 single base substitution C A downstream_gene_variant ESAD-UK 8 87493492 87493492 single base substitution C A downstream_gene_variant ESAD-UK 8 87494091 87494091 single base substitution T A downstream_gene_variant ESAD-UK 8 87494301 87494301 single base substitution G A downstream_gene_variant ESAD-UK 8 87495621 87495621 single base substitution G A downstream_gene_variant ESCA-CN 8 87414414 87414414 single base substitution G T intron_variant ESCA-CN 8 87414414 87414414 single base substitution G T stop_gained E236* 706G>T ESCA-CN 8 87414414 87414414 single base substitution G T upstream_gene_variant ESCA-CN 8 87452934 87452934 single base substitution C T intron_variant ESCA-CN 8 87452934 87452934 single base substitution C T missense_variant P104S 310C>T ESCA-CN 8 87452934 87452934 single base substitution C T upstream_gene_variant KIRC-US 8 87424056 87424056 single base substitution T C exon_variant KIRC-US 8 87424056 87424056 single base substitution T C synonymous_variant P120P 360T>C KIRC-US 8 87424056 87424056 single base substitution T C synonymous_variant P208P 624T>C KIRC-US 8 87424056 87424056 single base substitution T C synonymous_variant P338P 1014T>C KIRC-US 8 87464827 87464827 single base substitution A G downstream_gene_variant KIRC-US 8 87464827 87464827 single base substitution A G synonymous_variant E553E 1659A>G KIRC-US 8 87464827 87464827 single base substitution A G synonymous_variant E641E 1923A>G KIRC-US 8 87464827 87464827 single base substitution A G synonymous_variant E771E 2313A>G KIRP-US 8 87423961 87423961 single base substitution G C exon_variant KIRP-US 8 87423961 87423961 single base substitution G C missense_variant A177P 529G>C KIRP-US 8 87423961 87423961 single base substitution G C missense_variant A307P 919G>C KIRP-US 8 87423961 87423961 single base substitution G C missense_variant A89P 265G>C KIRP-US 8 87443954 87443954 single base substitution G A downstream_gene_variant KIRP-US 8 87443954 87443954 single base substitution G A exon_variant KIRP-US 8 87443954 87443954 single base substitution G A missense_variant R310H 929G>A KIRP-US 8 87443954 87443954 single base substitution G A missense_variant R398H 1193G>A KIRP-US 8 87443954 87443954 single base substitution G A missense_variant R528H 1583G>A KIRP-US 8 87443954 87443954 single base substitution G A upstream_gene_variant KIRP-US 8 87447714 87447714 insertion of <=200bp - AATTTTT downstream_gene_variant KIRP-US 8 87447714 87447714 insertion of <=200bp - AATTTTT exon_variant KIRP-US 8 87447714 87447714 insertion of <=200bp - AATTTTT frameshift_variant R327RIF? KIRP-US 8 87447714 87447714 insertion of <=200bp - AATTTTT frameshift_variant R415RIF? KIRP-US 8 87447714 87447714 insertion of <=200bp - AATTTTT frameshift_variant R545RIF? KIRP-US 8 87447714 87447714 insertion of <=200bp - AATTTTT frameshift_variant R9RIF? KIRP-US 8 87447714 87447714 insertion of <=200bp - AATTTTT upstream_gene_variant LAML-KR 8 87437082 87437082 single base substitution G C intron_variant LAML-KR 8 87483393 87483393 single base substitution C T downstream_gene_variant LAML-KR 8 87483393 87483393 single base substitution C T intron_variant LGG-US 8 87443690 87443690 single base substitution A C downstream_gene_variant LGG-US 8 87443690 87443690 single base substitution A C exon_variant LGG-US 8 87443690 87443690 single base substitution A C synonymous_variant T263T 789A>C LGG-US 8 87443690 87443690 single base substitution A C synonymous_variant T351T 1053A>C LGG-US 8 87443690 87443690 single base substitution A C synonymous_variant T481T 1443A>C LGG-US 8 87443690 87443690 single base substitution A C upstream_gene_variant LICA-CN 8 87460651 87460651 single base substitution A G exon_variant LICA-CN 8 87460651 87460651 single base substitution A G missense_variant M228V 682A>G LICA-CN 8 87460651 87460651 single base substitution A G missense_variant M510V 1528A>G LICA-CN 8 87460651 87460651 single base substitution A G missense_variant M598V 1792A>G LICA-CN 8 87460651 87460651 single base substitution A G missense_variant M728V 2182A>G LICA-FR 8 87365235 87365235 single base substitution C G intron_variant LICA-FR 8 87374246 87374246 single base substitution T C intron_variant LICA-FR 8 87377257 87377257 single base substitution A G intron_variant LICA-FR 8 87381374 87381374 single base substitution A G intron_variant LICA-FR 8 87381374 87381374 single base substitution A G upstream_gene_variant LICA-FR 8 87387712 87387712 single base substitution A G intron_variant LICA-FR 8 87389482 87389482 deletion of <=200bp T - intron_variant LICA-FR 8 87389482 87389482 deletion of <=200bp T - upstream_gene_variant LICA-FR 8 87393756 87393756 single base substitution T G exon_variant LICA-FR 8 87393756 87393756 single base substitution T G intron_variant LICA-FR 8 87393756 87393756 single base substitution T G missense_variant L78V 232T>G LICA-FR 8 87393795 87393795 single base substitution G A exon_variant LICA-FR 8 87393795 87393795 single base substitution G A intron_variant LICA-FR 8 87393795 87393795 single base substitution G A missense_variant D91N 271G>A LICA-FR 8 87398408 87398410 deletion of <=200bp TAA - intron_variant LICA-FR 8 87411928 87411928 single base substitution A G intron_variant LICA-FR 8 87421456 87421456 insertion of <=200bp - T intron_variant LICA-FR 8 87434282 87434282 single base substitution A G intron_variant LICA-FR 8 87438122 87438122 single base substitution A G intron_variant LICA-FR 8 87444354 87444354 single base substitution C T downstream_gene_variant LICA-FR 8 87444354 87444354 single base substitution C T intron_variant LICA-FR 8 87444354 87444354 single base substitution C T upstream_gene_variant LICA-FR 8 87467801 87467801 single base substitution A G downstream_gene_variant LICA-FR 8 87467801 87467801 single base substitution A G intron_variant LICA-FR 8 87467801 87467801 single base substitution A G upstream_gene_variant LICA-FR 8 87475752 87475752 single base substitution C G downstream_gene_variant LICA-FR 8 87475752 87475752 single base substitution C G intron_variant LICA-FR 8 87486536 87486536 single base substitution C T intron_variant LIHC-US 8 87492510 87492510 insertion of <=200bp - A downstream_gene_variant LINC-JP 8 87374014 87374014 single base substitution A G intron_variant LINC-JP 8 87374480 87374480 single base substitution C A intron_variant LINC-JP 8 87389499 87389499 single base substitution G T intron_variant LINC-JP 8 87389499 87389499 single base substitution G T upstream_gene_variant LINC-JP 8 87393016 87393016 single base substitution A T exon_variant LINC-JP 8 87393016 87393016 single base substitution A T intron_variant LINC-JP 8 87393016 87393016 single base substitution A T synonymous_variant V44V 132A>T LINC-JP 8 87393016 87393016 single base substitution A T upstream_gene_variant LINC-JP 8 87393219 87393219 single base substitution A G intron_variant LINC-JP 8 87393308 87393308 insertion of <=200bp - CATATAGA intron_variant LINC-JP 8 87393732 87393732 single base substitution A G intron_variant LINC-JP 8 87393732 87393732 single base substitution A G splice_acceptor_variant LINC-JP 8 87393880 87393880 single base substitution T G intron_variant LINC-JP 8 87400213 87400213 single base substitution G A downstream_gene_variant LINC-JP 8 87400213 87400213 single base substitution G A intron_variant LINC-JP 8 87406681 87406681 single base substitution A G intron_variant LINC-JP 8 87410385 87410385 single base substitution A C intron_variant LINC-JP 8 87412758 87412758 single base substitution A G intron_variant LINC-JP 8 87412758 87412758 single base substitution A G upstream_gene_variant LINC-JP 8 87414393 87414393 single base substitution G A intron_variant LINC-JP 8 87414393 87414393 single base substitution G A missense_variant A229T 685G>A LINC-JP 8 87414393 87414393 single base substitution G A upstream_gene_variant LINC-JP 8 87421294 87421294 single base substitution A G intron_variant LINC-JP 8 87424017 87424017 single base substitution A T exon_variant LINC-JP 8 87424017 87424017 single base substitution A T missense_variant E107D 321A>T LINC-JP 8 87424017 87424017 single base substitution A T missense_variant E195D 585A>T LINC-JP 8 87424017 87424017 single base substitution A T missense_variant E325D 975A>T LINC-JP 8 87428124 87428124 single base substitution C T intron_variant LINC-JP 8 87428124 87428124 single base substitution C T upstream_gene_variant LINC-JP 8 87429330 87429330 single base substitution A G intron_variant LINC-JP 8 87429330 87429330 single base substitution A G upstream_gene_variant LINC-JP 8 87433096 87433096 single base substitution A G intron_variant LINC-JP 8 87439789 87439789 single base substitution A T intron_variant LINC-JP 8 87442125 87442125 single base substitution A G intron_variant LINC-JP 8 87445478 87445478 single base substitution G T downstream_gene_variant LINC-JP 8 87445478 87445478 single base substitution G T intron_variant LINC-JP 8 87445478 87445478 single base substitution G T upstream_gene_variant LINC-JP 8 87455086 87455086 single base substitution G A intron_variant LINC-JP 8 87473768 87473768 single base substitution A G exon_variant LINC-JP 8 87473768 87473768 single base substitution A G intron_variant LINC-JP 8 87477160 87477160 single base substitution G A downstream_gene_variant LINC-JP 8 87477160 87477160 single base substitution G A intron_variant LINC-JP 8 87481930 87481930 single base substitution A G downstream_gene_variant LINC-JP 8 87481930 87481930 single base substitution A G intron_variant LINC-JP 8 87483108 87483108 single base substitution G A downstream_gene_variant LINC-JP 8 87483108 87483108 single base substitution G A intron_variant LINC-JP 8 87483718 87483718 single base substitution A C downstream_gene_variant LINC-JP 8 87483718 87483718 single base substitution A C intron_variant LINC-JP 8 87488576 87488576 single base substitution C T intron_variant LINC-JP 8 87489443 87489443 single base substitution T G intron_variant LINC-JP 8 87489456 87489456 single base substitution T G intron_variant LINC-JP 8 87491170 87491170 single base substitution A T downstream_gene_variant LIRI-JP 8 87350138 87350138 single base substitution T C upstream_gene_variant LIRI-JP 8 87351170 87351170 single base substitution A T upstream_gene_variant LIRI-JP 8 87353221 87353221 single base substitution T G upstream_gene_variant LIRI-JP 8 87353493 87353493 single base substitution C T upstream_gene_variant LIRI-JP 8 87354533 87354533 single base substitution G T upstream_gene_variant LIRI-JP 8 87356212 87356212 single base substitution C A intron_variant LIRI-JP 8 87358205 87358205 single base substitution T C intron_variant LIRI-JP 8 87358578 87358578 single base substitution G A intron_variant LIRI-JP 8 87360738 87360738 single base substitution C T intron_variant LIRI-JP 8 87362446 87362446 single base substitution A G intron_variant LIRI-JP 8 87364149 87364149 single base substitution A G intron_variant LIRI-JP 8 87364970 87365030 deletion of <=200bp TTAAAACAGCCTAAGATAATTGCCAAGGACTTGATCCAAACAAACTCTAGAAACTTGATAC - intron_variant LIRI-JP 8 87365452 87365452 single base substitution C G intron_variant LIRI-JP 8 87365533 87365533 single base substitution A C intron_variant LIRI-JP 8 87366153 87366153 single base substitution A G intron_variant LIRI-JP 8 87366650 87366650 single base substitution T G intron_variant LIRI-JP 8 87367109 87367109 single base substitution G A intron_variant LIRI-JP 8 87367383 87367383 single base substitution A G intron_variant LIRI-JP 8 87369188 87369188 single base substitution A G intron_variant LIRI-JP 8 87369681 87369681 single base substitution A G intron_variant LIRI-JP 8 87369852 87369852 single base substitution A C intron_variant LIRI-JP 8 87370076 87370076 single base substitution A G intron_variant LIRI-JP 8 87370845 87370845 single base substitution G T intron_variant LIRI-JP 8 87371641 87371641 single base substitution T G intron_variant LIRI-JP 8 87373396 87373396 single base substitution G T intron_variant LIRI-JP 8 87373775 87373775 single base substitution A G intron_variant LIRI-JP 8 87374441 87374444 deletion of <=200bp TTCA - intron_variant LIRI-JP 8 87377180 87377180 single base substitution A G intron_variant LIRI-JP 8 87378757 87378757 single base substitution A G intron_variant LIRI-JP 8 87380030 87380030 single base substitution A T intron_variant LIRI-JP 8 87380474 87380474 single base substitution T G intron_variant LIRI-JP 8 87381699 87381699 insertion of <=200bp - T intron_variant LIRI-JP 8 87381699 87381699 insertion of <=200bp - T upstream_gene_variant LIRI-JP 8 87382362 87382362 single base substitution A G intron_variant LIRI-JP 8 87382362 87382362 single base substitution A G upstream_gene_variant LIRI-JP 8 87383120 87383120 single base substitution A G intron_variant LIRI-JP 8 87383120 87383120 single base substitution A G upstream_gene_variant LIRI-JP 8 87387606 87387606 single base substitution G A intron_variant LIRI-JP 8 87388871 87388871 single base substitution T A intron_variant LIRI-JP 8 87388871 87388871 single base substitution T A upstream_gene_variant LIRI-JP 8 87388891 87388891 single base substitution C T intron_variant LIRI-JP 8 87388891 87388891 single base substitution C T upstream_gene_variant LIRI-JP 8 87389038 87389038 single base substitution A C intron_variant LIRI-JP 8 87389038 87389038 single base substitution A C upstream_gene_variant LIRI-JP 8 87389340 87389340 single base substitution A G intron_variant LIRI-JP 8 87389340 87389340 single base substitution A G upstream_gene_variant LIRI-JP 8 87390592 87390592 single base substitution T G intron_variant LIRI-JP 8 87390592 87390592 single base substitution T G upstream_gene_variant LIRI-JP 8 87391580 87391580 single base substitution C A intron_variant LIRI-JP 8 87391580 87391580 single base substitution C A upstream_gene_variant LIRI-JP 8 87391961 87391961 single base substitution A G intron_variant LIRI-JP 8 87391961 87391961 single base substitution A G upstream_gene_variant LIRI-JP 8 87392070 87392070 single base substitution A G intron_variant LIRI-JP 8 87392070 87392070 single base substitution A G upstream_gene_variant LIRI-JP 8 87393118 87393118 deletion of <=200bp A - intron_variant LIRI-JP 8 87393599 87393599 single base substitution A G intron_variant LIRI-JP 8 87393800 87393800 insertion of <=200bp - T exon_variant LIRI-JP 8 87393800 87393800 insertion of <=200bp - T frameshift_variant A92A? LIRI-JP 8 87393800 87393800 insertion of <=200bp - T intron_variant LIRI-JP 8 87394087 87394087 single base substitution A G intron_variant LIRI-JP 8 87394434 87394434 single base substitution A G intron_variant LIRI-JP 8 87395771 87395771 single base substitution G T intron_variant LIRI-JP 8 87396345 87396345 single base substitution T G intron_variant LIRI-JP 8 87398000 87398000 single base substitution C T intron_variant LIRI-JP 8 87398450 87398450 single base substitution G T intron_variant LIRI-JP 8 87398935 87398935 single base substitution A G intron_variant LIRI-JP 8 87399257 87399257 single base substitution C T downstream_gene_variant LIRI-JP 8 87399257 87399257 single base substitution C T intron_variant LIRI-JP 8 87399424 87399424 single base substitution A G downstream_gene_variant LIRI-JP 8 87399424 87399424 single base substitution A G intron_variant LIRI-JP 8 87400557 87400557 single base substitution T C downstream_gene_variant LIRI-JP 8 87400557 87400557 single base substitution T C intron_variant LIRI-JP 8 87406932 87406932 single base substitution A G intron_variant LIRI-JP 8 87407559 87407559 single base substitution T G intron_variant LIRI-JP 8 87408170 87408170 single base substitution A T intron_variant LIRI-JP 8 87408441 87408441 single base substitution C T intron_variant LIRI-JP 8 87409028 87409028 single base substitution T G intron_variant LIRI-JP 8 87409274 87409274 single base substitution C T intron_variant LIRI-JP 8 87411251 87411251 single base substitution A G intron_variant LIRI-JP 8 87411432 87411432 single base substitution A G intron_variant LIRI-JP 8 87412619 87412619 single base substitution A G intron_variant LIRI-JP 8 87412619 87412619 single base substitution A G upstream_gene_variant LIRI-JP 8 87412913 87412913 single base substitution A G intron_variant LIRI-JP 8 87412913 87412913 single base substitution A G upstream_gene_variant LIRI-JP 8 87413430 87413430 single base substitution A G intron_variant LIRI-JP 8 87413430 87413430 single base substitution A G upstream_gene_variant LIRI-JP 8 87413708 87413708 single base substitution G A intron_variant LIRI-JP 8 87413708 87413708 single base substitution G A upstream_gene_variant LIRI-JP 8 87413717 87413717 single base substitution A C intron_variant LIRI-JP 8 87413717 87413717 single base substitution A C upstream_gene_variant LIRI-JP 8 87413738 87413738 single base substitution A G intron_variant LIRI-JP 8 87413738 87413738 single base substitution A G upstream_gene_variant LIRI-JP 8 87413882 87413882 single base substitution A G intron_variant LIRI-JP 8 87413882 87413882 single base substitution A G upstream_gene_variant LIRI-JP 8 87416917 87416917 single base substitution A G intron_variant LIRI-JP 8 87416917 87416917 single base substitution A G upstream_gene_variant LIRI-JP 8 87417148 87417148 single base substitution T C intron_variant LIRI-JP 8 87417148 87417148 single base substitution T C upstream_gene_variant LIRI-JP 8 87417718 87417718 single base substitution T A intron_variant LIRI-JP 8 87419611 87419611 single base substitution G T intron_variant LIRI-JP 8 87420800 87420800 single base substitution G T intron_variant LIRI-JP 8 87423302 87423302 single base substitution A G intron_variant LIRI-JP 8 87423824 87423824 single base substitution C T exon_variant LIRI-JP 8 87423824 87423824 single base substitution C T missense_variant P131L 392C>T LIRI-JP 8 87423824 87423824 single base substitution C T missense_variant P261L 782C>T LIRI-JP 8 87423824 87423824 single base substitution C T missense_variant P43L 128C>T LIRI-JP 8 87428051 87428051 single base substitution C A intron_variant LIRI-JP 8 87428051 87428051 single base substitution C A upstream_gene_variant LIRI-JP 8 87429517 87429517 single base substitution C T intron_variant LIRI-JP 8 87431508 87431508 single base substitution A T intron_variant LIRI-JP 8 87437193 87437194 deletion of <=200bp TT - intron_variant LIRI-JP 8 87439942 87439942 deletion of <=200bp C - exon_variant LIRI-JP 8 87439942 87439942 deletion of <=200bp C - frameshift_variant Q192 LIRI-JP 8 87439942 87439942 deletion of <=200bp C - frameshift_variant Q280 LIRI-JP 8 87439942 87439942 deletion of <=200bp C - frameshift_variant Q410 LIRI-JP 8 87439971 87439971 single base substitution T G exon_variant LIRI-JP 8 87439971 87439971 single base substitution T G missense_variant N201K 603T>G LIRI-JP 8 87439971 87439971 single base substitution T G missense_variant N289K 867T>G LIRI-JP 8 87439971 87439971 single base substitution T G missense_variant N419K 1257T>G LIRI-JP 8 87440862 87440862 single base substitution A T intron_variant LIRI-JP 8 87441405 87441405 single base substitution G A intron_variant LIRI-JP 8 87441517 87441517 single base substitution T C intron_variant LIRI-JP 8 87441749 87441749 single base substitution T C intron_variant LIRI-JP 8 87442004 87442004 single base substitution C T intron_variant LIRI-JP 8 87443514 87443514 single base substitution T G downstream_gene_variant LIRI-JP 8 87443514 87443514 single base substitution T G intron_variant LIRI-JP 8 87443514 87443514 single base substitution T G upstream_gene_variant LIRI-JP 8 87443629 87443629 insertion of <=200bp - T downstream_gene_variant LIRI-JP 8 87443629 87443629 insertion of <=200bp - T splice_region_variant LIRI-JP 8 87443629 87443629 insertion of <=200bp - T upstream_gene_variant LIRI-JP 8 87444349 87444349 single base substitution T C downstream_gene_variant LIRI-JP 8 87444349 87444349 single base substitution T C intron_variant LIRI-JP 8 87444349 87444349 single base substitution T C upstream_gene_variant LIRI-JP 8 87444558 87444558 single base substitution A G downstream_gene_variant LIRI-JP 8 87444558 87444558 single base substitution A G intron_variant LIRI-JP 8 87444558 87444558 single base substitution A G upstream_gene_variant LIRI-JP 8 87446984 87446984 single base substitution A G downstream_gene_variant LIRI-JP 8 87446984 87446984 single base substitution A G intron_variant LIRI-JP 8 87446984 87446984 single base substitution A G upstream_gene_variant LIRI-JP 8 87447551 87447551 single base substitution A G downstream_gene_variant LIRI-JP 8 87447551 87447551 single base substitution A G intron_variant LIRI-JP 8 87447551 87447551 single base substitution A G upstream_gene_variant LIRI-JP 8 87447823 87447823 single base substitution A G downstream_gene_variant LIRI-JP 8 87447823 87447823 single base substitution A G intron_variant LIRI-JP 8 87447823 87447823 single base substitution A G upstream_gene_variant LIRI-JP 8 87447844 87447846 deletion of <=200bp TAT - downstream_gene_variant LIRI-JP 8 87447844 87447846 deletion of <=200bp TAT - exon_variant LIRI-JP 8 87447844 87447846 deletion of <=200bp TAT - intron_variant LIRI-JP 8 87448668 87448668 single base substitution C G downstream_gene_variant LIRI-JP 8 87448668 87448668 single base substitution C G intron_variant LIRI-JP 8 87450276 87450276 single base substitution G T intron_variant LIRI-JP 8 87450276 87450276 single base substitution G T upstream_gene_variant LIRI-JP 8 87450862 87450862 single base substitution T G exon_variant LIRI-JP 8 87450862 87450862 single base substitution T G missense_variant F382V 1144T>G LIRI-JP 8 87450862 87450862 single base substitution T G missense_variant F470V 1408T>G LIRI-JP 8 87450862 87450862 single base substitution T G missense_variant F600V 1798T>G LIRI-JP 8 87450862 87450862 single base substitution T G missense_variant F64V 190T>G LIRI-JP 8 87450862 87450862 single base substitution T G upstream_gene_variant LIRI-JP 8 87452043 87452043 single base substitution A G intron_variant LIRI-JP 8 87452043 87452043 single base substitution A G upstream_gene_variant LIRI-JP 8 87452489 87452489 single base substitution A G intron_variant LIRI-JP 8 87452489 87452489 single base substitution A G upstream_gene_variant LIRI-JP 8 87454897 87454897 single base substitution T A exon_variant LIRI-JP 8 87454897 87454897 single base substitution T A missense_variant L130I 388T>A LIRI-JP 8 87454897 87454897 single base substitution T A missense_variant L412I 1234T>A LIRI-JP 8 87454897 87454897 single base substitution T A missense_variant L500I 1498T>A LIRI-JP 8 87454897 87454897 single base substitution T A missense_variant L630I 1888T>A LIRI-JP 8 87455200 87455200 single base substitution T C intron_variant LIRI-JP 8 87455635 87455635 single base substitution T A intron_variant LIRI-JP 8 87458720 87458720 single base substitution C A intron_variant LIRI-JP 8 87461339 87461339 single base substitution G C downstream_gene_variant LIRI-JP 8 87461339 87461339 single base substitution G C intron_variant LIRI-JP 8 87461858 87461858 single base substitution G A downstream_gene_variant LIRI-JP 8 87461858 87461858 single base substitution G A intron_variant LIRI-JP 8 87462266 87462266 single base substitution T G downstream_gene_variant LIRI-JP 8 87462266 87462266 single base substitution T G intron_variant LIRI-JP 8 87462335 87462335 single base substitution T C downstream_gene_variant LIRI-JP 8 87462335 87462335 single base substitution T C intron_variant LIRI-JP 8 87463272 87463272 single base substitution C G downstream_gene_variant LIRI-JP 8 87463272 87463272 single base substitution C G intron_variant LIRI-JP 8 87463857 87463857 single base substitution A G downstream_gene_variant LIRI-JP 8 87463857 87463857 single base substitution A G intron_variant LIRI-JP 8 87465062 87465062 single base substitution G A downstream_gene_variant LIRI-JP 8 87465062 87465062 single base substitution G A intron_variant LIRI-JP 8 87465407 87465407 single base substitution A G downstream_gene_variant LIRI-JP 8 87465407 87465407 single base substitution A G intron_variant LIRI-JP 8 87465407 87465407 single base substitution A G upstream_gene_variant LIRI-JP 8 87465657 87465657 single base substitution T C downstream_gene_variant LIRI-JP 8 87465657 87465657 single base substitution T C intron_variant LIRI-JP 8 87465657 87465657 single base substitution T C upstream_gene_variant LIRI-JP 8 87466143 87466143 single base substitution A G downstream_gene_variant LIRI-JP 8 87466143 87466143 single base substitution A G intron_variant LIRI-JP 8 87466143 87466143 single base substitution A G upstream_gene_variant LIRI-JP 8 87466320 87466320 single base substitution A T downstream_gene_variant LIRI-JP 8 87466320 87466320 single base substitution A T intron_variant LIRI-JP 8 87466320 87466320 single base substitution A T upstream_gene_variant LIRI-JP 8 87470565 87470565 single base substitution G C intron_variant LIRI-JP 8 87470565 87470565 single base substitution G C upstream_gene_variant LIRI-JP 8 87471003 87471020 deletion of <=200bp ATGTATGTTGTGAGTTTA - intron_variant LIRI-JP 8 87471003 87471020 deletion of <=200bp ATGTATGTTGTGAGTTTA - upstream_gene_variant LIRI-JP 8 87473798 87473801 deletion of <=200bp AGAG - exon_variant LIRI-JP 8 87473798 87473801 deletion of <=200bp AGAG - intron_variant LIRI-JP 8 87474201 87474201 single base substitution G A downstream_gene_variant LIRI-JP 8 87474201 87474201 single base substitution G A intron_variant LIRI-JP 8 87474925 87474925 single base substitution A T downstream_gene_variant LIRI-JP 8 87474925 87474925 single base substitution A T intron_variant LIRI-JP 8 87475875 87475875 single base substitution A T downstream_gene_variant LIRI-JP 8 87475875 87475875 single base substitution A T intron_variant LIRI-JP 8 87478764 87478764 deletion of <=200bp G - downstream_gene_variant LIRI-JP 8 87478764 87478764 deletion of <=200bp G - intron_variant LIRI-JP 8 87480989 87480989 single base substitution T G downstream_gene_variant LIRI-JP 8 87480989 87480989 single base substitution T G intron_variant LIRI-JP 8 87481002 87481002 single base substitution T G downstream_gene_variant LIRI-JP 8 87481002 87481002 single base substitution T G intron_variant LIRI-JP 8 87481342 87481342 single base substitution C A downstream_gene_variant LIRI-JP 8 87481342 87481342 single base substitution C A intron_variant LIRI-JP 8 87482580 87482580 single base substitution G T downstream_gene_variant LIRI-JP 8 87482580 87482580 single base substitution G T intron_variant LIRI-JP 8 87482662 87482662 single base substitution C A downstream_gene_variant LIRI-JP 8 87482662 87482662 single base substitution C A intron_variant LIRI-JP 8 87483180 87483180 single base substitution A C downstream_gene_variant LIRI-JP 8 87483180 87483180 single base substitution A C intron_variant LIRI-JP 8 87483533 87483533 single base substitution T C downstream_gene_variant LIRI-JP 8 87483533 87483533 single base substitution T C intron_variant LIRI-JP 8 87483728 87483728 single base substitution T C downstream_gene_variant LIRI-JP 8 87483728 87483728 single base substitution T C intron_variant LIRI-JP 8 87484003 87484003 single base substitution C A downstream_gene_variant LIRI-JP 8 87484003 87484003 single base substitution C A intron_variant LIRI-JP 8 87484007 87484007 single base substitution G A downstream_gene_variant LIRI-JP 8 87484007 87484007 single base substitution G A intron_variant LIRI-JP 8 87484031 87484031 insertion of <=200bp - CAGTTCC downstream_gene_variant LIRI-JP 8 87484031 87484031 insertion of <=200bp - CAGTTCC intron_variant LIRI-JP 8 87484249 87484249 single base substitution T C downstream_gene_variant LIRI-JP 8 87484249 87484249 single base substitution T C intron_variant LIRI-JP 8 87484526 87484526 single base substitution C T downstream_gene_variant LIRI-JP 8 87484526 87484526 single base substitution C T intron_variant LIRI-JP 8 87484684 87484684 single base substitution T C downstream_gene_variant LIRI-JP 8 87484684 87484684 single base substitution T C intron_variant LIRI-JP 8 87484741 87484741 single base substitution T C downstream_gene_variant LIRI-JP 8 87484741 87484741 single base substitution T C intron_variant LIRI-JP 8 87485124 87485124 single base substitution A C downstream_gene_variant LIRI-JP 8 87485124 87485124 single base substitution A C intron_variant LIRI-JP 8 87486240 87486240 single base substitution T C intron_variant LIRI-JP 8 87486891 87486891 single base substitution A G intron_variant LIRI-JP 8 87487294 87487294 single base substitution A T intron_variant LIRI-JP 8 87487530 87487530 single base substitution A G intron_variant LIRI-JP 8 87488356 87488356 single base substitution T G intron_variant LIRI-JP 8 87488377 87488377 single base substitution A C intron_variant LIRI-JP 8 87488438 87488438 single base substitution A C intron_variant LIRI-JP 8 87488913 87488913 insertion of <=200bp - A intron_variant LIRI-JP 8 87489268 87489268 deletion of <=200bp A - intron_variant LIRI-JP 8 87489388 87489388 single base substitution A C intron_variant LIRI-JP 8 87491487 87491487 single base substitution T C downstream_gene_variant LIRI-JP 8 87493718 87493718 single base substitution T G downstream_gene_variant LIRI-JP 8 87494167 87494167 single base substitution A G downstream_gene_variant LIRI-JP 8 87494863 87494863 single base substitution T A downstream_gene_variant LIRI-JP 8 87494955 87494979 deletion of <=200bp AATGTGTCAAGCAGGTGGCGCCATA - downstream_gene_variant LIRI-JP 8 87495336 87495336 single base substitution C G downstream_gene_variant LUSC-KR 8 87350494 87350494 single base substitution C A upstream_gene_variant LUSC-KR 8 87352338 87352338 single base substitution G A upstream_gene_variant LUSC-KR 8 87353713 87353713 single base substitution C T upstream_gene_variant LUSC-KR 8 87354312 87354312 single base substitution A T upstream_gene_variant LUSC-KR 8 87356275 87356275 single base substitution T C intron_variant LUSC-KR 8 87373570 87373570 single base substitution G C intron_variant LUSC-KR 8 87374642 87374642 single base substitution G A intron_variant LUSC-KR 8 87374860 87374860 single base substitution G T intron_variant LUSC-KR 8 87378061 87378061 single base substitution G T intron_variant LUSC-KR 8 87380312 87380312 single base substitution C T intron_variant LUSC-KR 8 87383307 87383307 single base substitution A C intron_variant LUSC-KR 8 87383307 87383307 single base substitution A C upstream_gene_variant LUSC-KR 8 87384451 87384451 single base substitution C T intron_variant LUSC-KR 8 87384451 87384451 single base substitution C T upstream_gene_variant LUSC-KR 8 87384498 87384498 single base substitution G T intron_variant LUSC-KR 8 87384498 87384498 single base substitution G T upstream_gene_variant LUSC-KR 8 87389537 87389537 single base substitution G C intron_variant LUSC-KR 8 87389537 87389537 single base substitution G C upstream_gene_variant LUSC-KR 8 87389557 87389557 single base substitution C G intron_variant LUSC-KR 8 87389557 87389557 single base substitution C G upstream_gene_variant LUSC-KR 8 87389618 87389618 single base substitution G C intron_variant LUSC-KR 8 87389618 87389618 single base substitution G C upstream_gene_variant LUSC-KR 8 87393990 87393990 single base substitution A G intron_variant LUSC-KR 8 87395479 87395479 single base substitution A G intron_variant LUSC-KR 8 87397859 87397859 single base substitution A G intron_variant LUSC-KR 8 87397971 87397971 single base substitution C T intron_variant LUSC-KR 8 87401737 87401737 single base substitution G C downstream_gene_variant LUSC-KR 8 87401737 87401737 single base substitution G C intron_variant LUSC-KR 8 87402960 87402960 single base substitution A G downstream_gene_variant LUSC-KR 8 87402960 87402960 single base substitution A G intron_variant LUSC-KR 8 87403734 87403734 single base substitution A G downstream_gene_variant LUSC-KR 8 87403734 87403734 single base substitution A G intron_variant LUSC-KR 8 87404115 87404115 single base substitution G T downstream_gene_variant LUSC-KR 8 87404115 87404115 single base substitution G T intron_variant LUSC-KR 8 87404122 87404122 single base substitution G C downstream_gene_variant LUSC-KR 8 87404122 87404122 single base substitution G C intron_variant LUSC-KR 8 87405611 87405611 single base substitution G C intron_variant LUSC-KR 8 87407195 87407195 single base substitution G A intron_variant LUSC-KR 8 87409163 87409163 single base substitution G A intron_variant LUSC-KR 8 87410959 87410959 single base substitution G T intron_variant LUSC-KR 8 87411952 87411952 single base substitution C A intron_variant LUSC-KR 8 87412678 87412678 single base substitution A C intron_variant LUSC-KR 8 87412678 87412678 single base substitution A C upstream_gene_variant LUSC-KR 8 87414557 87414557 single base substitution C T intron_variant LUSC-KR 8 87414557 87414557 single base substitution C T upstream_gene_variant LUSC-KR 8 87417496 87417496 single base substitution A T intron_variant LUSC-KR 8 87418417 87418417 single base substitution G C intron_variant LUSC-KR 8 87421935 87421935 single base substitution G T intron_variant LUSC-KR 8 87423886 87423886 single base substitution C A exon_variant LUSC-KR 8 87423886 87423886 single base substitution C A missense_variant P152T 454C>A LUSC-KR 8 87423886 87423886 single base substitution C A missense_variant P282T 844C>A LUSC-KR 8 87423886 87423886 single base substitution C A missense_variant P64T 190C>A LUSC-KR 8 87426254 87426254 single base substitution G T intron_variant LUSC-KR 8 87426254 87426254 single base substitution G T upstream_gene_variant LUSC-KR 8 87431106 87431106 single base substitution C T intron_variant LUSC-KR 8 87432344 87432344 single base substitution A G intron_variant LUSC-KR 8 87432755 87432755 single base substitution G C intron_variant LUSC-KR 8 87434078 87434078 single base substitution A G intron_variant LUSC-KR 8 87435937 87435937 single base substitution A G intron_variant LUSC-KR 8 87437647 87437647 single base substitution A G intron_variant LUSC-KR 8 87439263 87439263 single base substitution G A intron_variant LUSC-KR 8 87439963 87439963 single base substitution G T exon_variant LUSC-KR 8 87439963 87439963 single base substitution G T missense_variant V199F 595G>T LUSC-KR 8 87439963 87439963 single base substitution G T missense_variant V287F 859G>T LUSC-KR 8 87439963 87439963 single base substitution G T missense_variant V417F 1249G>T LUSC-KR 8 87440818 87440818 single base substitution C A intron_variant LUSC-KR 8 87449275 87449275 single base substitution G C intron_variant LUSC-KR 8 87452547 87452547 single base substitution A T intron_variant LUSC-KR 8 87452547 87452547 single base substitution A T upstream_gene_variant LUSC-KR 8 87454142 87454142 single base substitution C A intron_variant LUSC-KR 8 87454142 87454142 single base substitution C A upstream_gene_variant LUSC-KR 8 87455819 87455819 single base substitution C G intron_variant LUSC-KR 8 87457537 87457537 single base substitution C A intron_variant LUSC-KR 8 87460085 87460085 single base substitution C A intron_variant LUSC-KR 8 87462017 87462017 single base substitution G C downstream_gene_variant LUSC-KR 8 87462017 87462017 single base substitution G C intron_variant LUSC-KR 8 87463312 87463312 single base substitution A G downstream_gene_variant LUSC-KR 8 87463312 87463312 single base substitution A G intron_variant LUSC-KR 8 87463424 87463424 single base substitution G A downstream_gene_variant LUSC-KR 8 87463424 87463424 single base substitution G A intron_variant LUSC-KR 8 87466236 87466236 single base substitution T A downstream_gene_variant LUSC-KR 8 87466236 87466236 single base substitution T A intron_variant LUSC-KR 8 87466236 87466236 single base substitution T A upstream_gene_variant LUSC-KR 8 87471465 87471465 single base substitution A G intron_variant LUSC-KR 8 87471465 87471465 single base substitution A G upstream_gene_variant LUSC-KR 8 87471919 87471919 single base substitution A G intron_variant LUSC-KR 8 87471919 87471919 single base substitution A G upstream_gene_variant LUSC-KR 8 87475895 87475895 single base substitution A G downstream_gene_variant LUSC-KR 8 87475895 87475895 single base substitution A G intron_variant LUSC-KR 8 87483677 87483677 single base substitution A T downstream_gene_variant LUSC-KR 8 87483677 87483677 single base substitution A T intron_variant LUSC-KR 8 87489598 87489598 single base substitution G A intron_variant LUSC-KR 8 87490048 87490048 single base substitution G T intron_variant LUSC-KR 8 87491281 87491281 single base substitution T C downstream_gene_variant LUSC-KR 8 87491514 87491514 single base substitution G C downstream_gene_variant LUSC-US 8 87423845 87423845 single base substitution C T exon_variant LUSC-US 8 87423845 87423845 single base substitution C T missense_variant A138V 413C>T LUSC-US 8 87423845 87423845 single base substitution C T missense_variant A268V 803C>T LUSC-US 8 87423845 87423845 single base substitution C T missense_variant A50V 149C>T LUSC-US 8 87423938 87423938 single base substitution C G exon_variant LUSC-US 8 87423938 87423938 single base substitution C G missense_variant T169S 506C>G LUSC-US 8 87423938 87423938 single base substitution C G missense_variant T299S 896C>G LUSC-US 8 87423938 87423938 single base substitution C G missense_variant T81S 242C>G LUSC-US 8 87424104 87424104 single base substitution G T splice_donor_variant MALY-DE 8 87350573 87350573 single base substitution A T upstream_gene_variant MALY-DE 8 87353810 87353810 single base substitution T C upstream_gene_variant MALY-DE 8 87355713 87355713 single base substitution A G intron_variant MALY-DE 8 87363989 87363989 single base substitution C T intron_variant MALY-DE 8 87372449 87372449 single base substitution T A intron_variant MALY-DE 8 87382145 87382145 single base substitution A C intron_variant MALY-DE 8 87382145 87382145 single base substitution A C upstream_gene_variant MALY-DE 8 87383953 87383953 single base substitution T G intron_variant MALY-DE 8 87383953 87383953 single base substitution T G upstream_gene_variant MALY-DE 8 87389731 87389731 insertion of <=200bp - T intron_variant MALY-DE 8 87389731 87389731 insertion of <=200bp - T upstream_gene_variant MALY-DE 8 87406993 87406993 single base substitution T A intron_variant MALY-DE 8 87416937 87416937 single base substitution C G intron_variant MALY-DE 8 87416937 87416937 single base substitution C G upstream_gene_variant MALY-DE 8 87418676 87418676 single base substitution A G intron_variant MALY-DE 8 87424810 87424810 single base substitution C A intron_variant MALY-DE 8 87424810 87424810 single base substitution C A upstream_gene_variant MALY-DE 8 87429392 87429392 single base substitution G T intron_variant MALY-DE 8 87429392 87429392 single base substitution G T upstream_gene_variant MALY-DE 8 87433824 87433824 single base substitution C T intron_variant MALY-DE 8 87437330 87437330 single base substitution T C intron_variant MALY-DE 8 87437986 87437986 single base substitution T G intron_variant MALY-DE 8 87440399 87440399 single base substitution T C intron_variant MALY-DE 8 87440870 87440870 single base substitution C T intron_variant MALY-DE 8 87445480 87445480 single base substitution T C downstream_gene_variant MALY-DE 8 87445480 87445480 single base substitution T C intron_variant MALY-DE 8 87445480 87445480 single base substitution T C upstream_gene_variant MALY-DE 8 87452318 87452318 single base substitution C T intron_variant MALY-DE 8 87452318 87452318 single base substitution C T upstream_gene_variant MALY-DE 8 87454191 87454191 single base substitution G A intron_variant MALY-DE 8 87454191 87454191 single base substitution G A upstream_gene_variant MALY-DE 8 87454660 87454660 single base substitution G A exon_variant MALY-DE 8 87454660 87454660 single base substitution G A intron_variant MALY-DE 8 87456009 87456009 single base substitution G A intron_variant MALY-DE 8 87463295 87463295 single base substitution T A downstream_gene_variant MALY-DE 8 87463295 87463295 single base substitution T A intron_variant MALY-DE 8 87469048 87469048 single base substitution A C downstream_gene_variant MALY-DE 8 87469048 87469048 single base substitution A C intron_variant MALY-DE 8 87469048 87469048 single base substitution A C upstream_gene_variant MALY-DE 8 87472273 87472273 single base substitution T C intron_variant MALY-DE 8 87472273 87472273 single base substitution T C upstream_gene_variant MALY-DE 8 87475142 87475142 single base substitution A C downstream_gene_variant MALY-DE 8 87475142 87475142 single base substitution A C intron_variant MALY-DE 8 87475697 87475697 single base substitution A G downstream_gene_variant MALY-DE 8 87475697 87475697 single base substitution A G intron_variant MALY-DE 8 87476931 87476931 single base substitution G A downstream_gene_variant MALY-DE 8 87476931 87476931 single base substitution G A intron_variant MALY-DE 8 87478970 87478970 single base substitution A C downstream_gene_variant MALY-DE 8 87478970 87478970 single base substitution A C intron_variant MALY-DE 8 87480525 87480525 single base substitution C T 3_prime_UTR_variant MALY-DE 8 87480525 87480525 single base substitution C T downstream_gene_variant MALY-DE 8 87480525 87480525 single base substitution C T intron_variant MALY-DE 8 87483110 87483110 single base substitution G A downstream_gene_variant MALY-DE 8 87483110 87483110 single base substitution G A intron_variant MALY-DE 8 87490095 87490095 single base substitution T G intron_variant MELA-AU 8 87350008 87350008 single base substitution G A upstream_gene_variant MELA-AU 8 87350028 87350028 single base substitution G A upstream_gene_variant MELA-AU 8 87350083 87350083 single base substitution C T upstream_gene_variant MELA-AU 8 87350087 87350087 single base substitution C T upstream_gene_variant MELA-AU 8 87350131 87350131 single base substitution G A upstream_gene_variant MELA-AU 8 87350228 87350228 single base substitution C T upstream_gene_variant MELA-AU 8 87350244 87350244 single base substitution T C upstream_gene_variant MELA-AU 8 87350310 87350311 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 8 87350481 87350481 single base substitution G A upstream_gene_variant MELA-AU 8 87350732 87350732 single base substitution C T upstream_gene_variant MELA-AU 8 87351396 87351396 single base substitution G A upstream_gene_variant MELA-AU 8 87351485 87351485 single base substitution G A upstream_gene_variant MELA-AU 8 87351717 87351717 single base substitution A G upstream_gene_variant MELA-AU 8 87351832 87351832 single base substitution G A upstream_gene_variant MELA-AU 8 87352343 87352343 single base substitution G A upstream_gene_variant MELA-AU 8 87352494 87352494 single base substitution G A upstream_gene_variant MELA-AU 8 87352525 87352525 single base substitution G A upstream_gene_variant MELA-AU 8 87352734 87352734 single base substitution C T upstream_gene_variant MELA-AU 8 87353596 87353596 single base substitution G A upstream_gene_variant MELA-AU 8 87353984 87353984 single base substitution G A upstream_gene_variant MELA-AU 8 87354372 87354372 single base substitution G A upstream_gene_variant MELA-AU 8 87354381 87354381 deletion of <=200bp A - upstream_gene_variant MELA-AU 8 87354636 87354636 single base substitution C T upstream_gene_variant MELA-AU 8 87355303 87355303 single base substitution C T intron_variant MELA-AU 8 87355525 87355525 single base substitution G A intron_variant MELA-AU 8 87355918 87355919 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 87357271 87357271 single base substitution G A intron_variant MELA-AU 8 87357545 87357545 single base substitution C T intron_variant MELA-AU 8 87357616 87357616 single base substitution C T intron_variant MELA-AU 8 87357678 87357678 single base substitution C T intron_variant MELA-AU 8 87357934 87357934 single base substitution C T intron_variant MELA-AU 8 87358119 87358119 single base substitution C T intron_variant MELA-AU 8 87358336 87358336 single base substitution C T intron_variant MELA-AU 8 87358911 87358911 single base substitution G A intron_variant MELA-AU 8 87359358 87359358 single base substitution T G intron_variant MELA-AU 8 87359478 87359478 single base substitution G A intron_variant MELA-AU 8 87359760 87359760 single base substitution C T intron_variant MELA-AU 8 87360826 87360826 single base substitution G C intron_variant MELA-AU 8 87361116 87361116 single base substitution T C intron_variant MELA-AU 8 87361245 87361245 single base substitution A G intron_variant MELA-AU 8 87362291 87362291 single base substitution C T intron_variant MELA-AU 8 87362325 87362325 single base substitution T G intron_variant MELA-AU 8 87362729 87362729 single base substitution C T intron_variant MELA-AU 8 87363198 87363198 single base substitution C T intron_variant MELA-AU 8 87363203 87363203 single base substitution C T intron_variant MELA-AU 8 87363807 87363807 single base substitution C T intron_variant MELA-AU 8 87364776 87364776 single base substitution A G intron_variant MELA-AU 8 87364835 87364835 single base substitution C T intron_variant MELA-AU 8 87365279 87365279 single base substitution A G intron_variant MELA-AU 8 87365910 87365910 single base substitution C T intron_variant MELA-AU 8 87366222 87366222 single base substitution C T intron_variant MELA-AU 8 87366240 87366240 single base substitution C T intron_variant MELA-AU 8 87366383 87366383 single base substitution A C intron_variant MELA-AU 8 87367087 87367087 single base substitution T C intron_variant MELA-AU 8 87367141 87367141 single base substitution C T intron_variant MELA-AU 8 87367388 87367388 single base substitution C T intron_variant MELA-AU 8 87367537 87367537 single base substitution T C intron_variant MELA-AU 8 87368084 87368084 single base substitution G A intron_variant MELA-AU 8 87368124 87368124 single base substitution T A intron_variant MELA-AU 8 87368212 87368212 single base substitution G T intron_variant MELA-AU 8 87368680 87368680 single base substitution T A intron_variant MELA-AU 8 87368804 87368804 single base substitution C T intron_variant MELA-AU 8 87368962 87368962 single base substitution C T intron_variant MELA-AU 8 87372315 87372315 single base substitution C T intron_variant MELA-AU 8 87372450 87372450 single base substitution C T intron_variant MELA-AU 8 87372516 87372516 single base substitution C T intron_variant MELA-AU 8 87372798 87372798 single base substitution T A intron_variant MELA-AU 8 87372892 87372893 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 87373155 87373155 single base substitution G A intron_variant MELA-AU 8 87373329 87373329 single base substitution C T intron_variant MELA-AU 8 87373854 87373854 single base substitution C T intron_variant MELA-AU 8 87374302 87374302 single base substitution C T intron_variant MELA-AU 8 87377066 87377066 single base substitution G A intron_variant MELA-AU 8 87377492 87377492 single base substitution G A intron_variant MELA-AU 8 87378031 87378031 single base substitution T C intron_variant MELA-AU 8 87378315 87378315 single base substitution C T intron_variant MELA-AU 8 87378806 87378806 single base substitution C T intron_variant MELA-AU 8 87380482 87380482 single base substitution G A intron_variant MELA-AU 8 87380685 87380685 single base substitution T C intron_variant MELA-AU 8 87380772 87380772 single base substitution A C intron_variant MELA-AU 8 87381060 87381060 single base substitution C T intron_variant MELA-AU 8 87381457 87381457 single base substitution A T intron_variant MELA-AU 8 87381457 87381457 single base substitution A T upstream_gene_variant MELA-AU 8 87382679 87382679 single base substitution C T intron_variant MELA-AU 8 87382679 87382679 single base substitution C T upstream_gene_variant MELA-AU 8 87383359 87383359 single base substitution C T intron_variant MELA-AU 8 87383359 87383359 single base substitution C T upstream_gene_variant MELA-AU 8 87383432 87383432 single base substitution C T intron_variant MELA-AU 8 87383432 87383432 single base substitution C T upstream_gene_variant MELA-AU 8 87383927 87383927 single base substitution T C intron_variant MELA-AU 8 87383927 87383927 single base substitution T C upstream_gene_variant MELA-AU 8 87384105 87384105 single base substitution C T intron_variant MELA-AU 8 87384105 87384105 single base substitution C T upstream_gene_variant MELA-AU 8 87384856 87384856 single base substitution C T intron_variant MELA-AU 8 87384856 87384856 single base substitution C T upstream_gene_variant MELA-AU 8 87384867 87384867 single base substitution T C intron_variant MELA-AU 8 87384867 87384867 single base substitution T C upstream_gene_variant MELA-AU 8 87384908 87384908 single base substitution C T intron_variant MELA-AU 8 87384908 87384908 single base substitution C T upstream_gene_variant MELA-AU 8 87385075 87385075 single base substitution C T intron_variant MELA-AU 8 87385075 87385075 single base substitution C T upstream_gene_variant MELA-AU 8 87385410 87385410 single base substitution T C intron_variant MELA-AU 8 87385410 87385410 single base substitution T C upstream_gene_variant MELA-AU 8 87385987 87385987 single base substitution C T intron_variant MELA-AU 8 87385987 87385987 single base substitution C T upstream_gene_variant MELA-AU 8 87386151 87386151 single base substitution C T intron_variant MELA-AU 8 87386151 87386151 single base substitution C T upstream_gene_variant MELA-AU 8 87386266 87386266 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 8 87386266 87386266 single base substitution C T exon_variant MELA-AU 8 87386266 87386266 single base substitution C T upstream_gene_variant MELA-AU 8 87386511 87386511 single base substitution A G intron_variant MELA-AU 8 87386963 87386963 single base substitution G A intron_variant MELA-AU 8 87387011 87387011 single base substitution T A intron_variant MELA-AU 8 87387013 87387013 single base substitution C T intron_variant MELA-AU 8 87387074 87387074 single base substitution G A intron_variant MELA-AU 8 87387305 87387305 single base substitution T C intron_variant MELA-AU 8 87387741 87387741 single base substitution C G intron_variant MELA-AU 8 87387746 87387746 single base substitution C T intron_variant MELA-AU 8 87388902 87388902 single base substitution A T intron_variant MELA-AU 8 87388902 87388902 single base substitution A T upstream_gene_variant MELA-AU 8 87389568 87389568 single base substitution C T intron_variant MELA-AU 8 87389568 87389568 single base substitution C T upstream_gene_variant MELA-AU 8 87389722 87389722 single base substitution C T intron_variant MELA-AU 8 87389722 87389722 single base substitution C T upstream_gene_variant MELA-AU 8 87391510 87391510 single base substitution T C intron_variant MELA-AU 8 87391510 87391510 single base substitution T C upstream_gene_variant MELA-AU 8 87391551 87391551 single base substitution G A intron_variant MELA-AU 8 87391551 87391551 single base substitution G A upstream_gene_variant MELA-AU 8 87392879 87392879 single base substitution C T intron_variant MELA-AU 8 87392879 87392879 single base substitution C T upstream_gene_variant MELA-AU 8 87393068 87393068 single base substitution C T exon_variant MELA-AU 8 87393068 87393068 single base substitution C T intron_variant MELA-AU 8 87393068 87393068 single base substitution C T missense_variant P62S 184C>T MELA-AU 8 87393920 87393920 single base substitution C T intron_variant MELA-AU 8 87394531 87394531 single base substitution C T intron_variant MELA-AU 8 87394657 87394657 single base substitution G A intron_variant MELA-AU 8 87395853 87395853 single base substitution C T intron_variant MELA-AU 8 87396333 87396333 single base substitution C T intron_variant MELA-AU 8 87397367 87397367 single base substitution C T intron_variant MELA-AU 8 87397580 87397580 single base substitution C T intron_variant MELA-AU 8 87398244 87398244 single base substitution A G intron_variant MELA-AU 8 87399134 87399134 single base substitution T C exon_variant MELA-AU 8 87399134 87399134 single base substitution T C intron_variant MELA-AU 8 87399252 87399252 single base substitution C T exon_variant MELA-AU 8 87399252 87399252 single base substitution C T intron_variant MELA-AU 8 87399253 87399253 single base substitution C T exon_variant MELA-AU 8 87399253 87399253 single base substitution C T intron_variant MELA-AU 8 87399284 87399284 single base substitution T C downstream_gene_variant MELA-AU 8 87399284 87399284 single base substitution T C intron_variant MELA-AU 8 87399390 87399390 single base substitution T A downstream_gene_variant MELA-AU 8 87399390 87399390 single base substitution T A intron_variant MELA-AU 8 87399458 87399458 single base substitution C T downstream_gene_variant MELA-AU 8 87399458 87399458 single base substitution C T intron_variant MELA-AU 8 87399743 87399743 single base substitution C T downstream_gene_variant MELA-AU 8 87399743 87399743 single base substitution C T intron_variant MELA-AU 8 87400413 87400413 single base substitution C T downstream_gene_variant MELA-AU 8 87400413 87400413 single base substitution C T intron_variant MELA-AU 8 87400796 87400796 single base substitution C T downstream_gene_variant MELA-AU 8 87400796 87400796 single base substitution C T intron_variant MELA-AU 8 87401513 87401514 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 87401513 87401514 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 87401649 87401649 single base substitution C T downstream_gene_variant MELA-AU 8 87401649 87401649 single base substitution C T intron_variant MELA-AU 8 87402427 87402427 single base substitution C T downstream_gene_variant MELA-AU 8 87402427 87402427 single base substitution C T intron_variant MELA-AU 8 87403262 87403262 single base substitution C T downstream_gene_variant MELA-AU 8 87403262 87403262 single base substitution C T intron_variant MELA-AU 8 87406050 87406050 single base substitution C T intron_variant MELA-AU 8 87406592 87406592 single base substitution C T intron_variant MELA-AU 8 87407139 87407139 single base substitution A C intron_variant MELA-AU 8 87407141 87407141 single base substitution A G intron_variant MELA-AU 8 87408162 87408163 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 8 87408316 87408316 single base substitution C T intron_variant MELA-AU 8 87408506 87408506 single base substitution T A intron_variant MELA-AU 8 87409431 87409431 single base substitution G T intron_variant MELA-AU 8 87410130 87410130 single base substitution C T intron_variant MELA-AU 8 87410449 87410449 single base substitution T G intron_variant MELA-AU 8 87410497 87410497 single base substitution G C intron_variant MELA-AU 8 87410601 87410601 single base substitution C T exon_variant MELA-AU 8 87410601 87410601 single base substitution C T intron_variant MELA-AU 8 87410601 87410601 single base substitution C T missense_variant S122F 365C>T MELA-AU 8 87411394 87411394 single base substitution C T intron_variant MELA-AU 8 87411565 87411565 single base substitution C T intron_variant MELA-AU 8 87411650 87411650 single base substitution C T intron_variant MELA-AU 8 87411707 87411707 single base substitution C T intron_variant MELA-AU 8 87411776 87411776 single base substitution C T intron_variant MELA-AU 8 87411966 87411966 single base substitution G A intron_variant MELA-AU 8 87412385 87412385 single base substitution C T intron_variant MELA-AU 8 87412385 87412385 single base substitution C T upstream_gene_variant MELA-AU 8 87412556 87412556 single base substitution C T intron_variant MELA-AU 8 87412556 87412556 single base substitution C T upstream_gene_variant MELA-AU 8 87414133 87414146 deletion of <=200bp AAAAAAGAAATAAC - intron_variant MELA-AU 8 87414133 87414146 deletion of <=200bp AAAAAAGAAATAAC - upstream_gene_variant MELA-AU 8 87415257 87415257 single base substitution C T intron_variant MELA-AU 8 87415257 87415257 single base substitution C T upstream_gene_variant MELA-AU 8 87416133 87416133 single base substitution C T intron_variant MELA-AU 8 87416133 87416133 single base substitution C T upstream_gene_variant MELA-AU 8 87416306 87416306 single base substitution C T intron_variant MELA-AU 8 87416306 87416306 single base substitution C T upstream_gene_variant MELA-AU 8 87417564 87417564 single base substitution T A intron_variant MELA-AU 8 87417882 87417883 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 87418020 87418020 single base substitution C T intron_variant MELA-AU 8 87418256 87418256 single base substitution C T intron_variant MELA-AU 8 87418374 87418374 single base substitution G A intron_variant MELA-AU 8 87418514 87418514 single base substitution C T intron_variant MELA-AU 8 87418828 87418828 single base substitution G A intron_variant MELA-AU 8 87419305 87419305 single base substitution G A intron_variant MELA-AU 8 87419678 87419678 single base substitution G A intron_variant MELA-AU 8 87420034 87420034 single base substitution C T intron_variant MELA-AU 8 87420037 87420037 single base substitution C T intron_variant MELA-AU 8 87420342 87420342 single base substitution T C intron_variant MELA-AU 8 87421410 87421410 single base substitution C T intron_variant MELA-AU 8 87421798 87421798 single base substitution C T intron_variant MELA-AU 8 87421922 87421922 single base substitution C T intron_variant MELA-AU 8 87422568 87422568 single base substitution C T intron_variant MELA-AU 8 87422569 87422569 single base substitution C T intron_variant MELA-AU 8 87422724 87422724 single base substitution C T intron_variant MELA-AU 8 87422746 87422746 single base substitution C T intron_variant MELA-AU 8 87422796 87422796 single base substitution C T intron_variant MELA-AU 8 87422902 87422902 single base substitution C T intron_variant MELA-AU 8 87423366 87423366 single base substitution C T intron_variant MELA-AU 8 87423511 87423511 single base substitution C T intron_variant MELA-AU 8 87423793 87423793 single base substitution C T exon_variant MELA-AU 8 87423793 87423793 single base substitution C T missense_variant P121S 361C>T MELA-AU 8 87423793 87423793 single base substitution C T missense_variant P251S 751C>T MELA-AU 8 87423793 87423793 single base substitution C T missense_variant P33S 97C>T MELA-AU 8 87424538 87424538 single base substitution T A intron_variant MELA-AU 8 87424538 87424538 single base substitution T A upstream_gene_variant MELA-AU 8 87426752 87426752 single base substitution C T intron_variant MELA-AU 8 87426752 87426752 single base substitution C T upstream_gene_variant MELA-AU 8 87427054 87427054 single base substitution G T intron_variant MELA-AU 8 87427054 87427054 single base substitution G T upstream_gene_variant MELA-AU 8 87428141 87428141 single base substitution C T intron_variant MELA-AU 8 87428141 87428141 single base substitution C T upstream_gene_variant MELA-AU 8 87429151 87429151 single base substitution C T intron_variant MELA-AU 8 87429151 87429151 single base substitution C T upstream_gene_variant MELA-AU 8 87429856 87429856 single base substitution T C intron_variant MELA-AU 8 87430160 87430160 single base substitution G A intron_variant MELA-AU 8 87430718 87430718 single base substitution G A intron_variant MELA-AU 8 87431062 87431062 single base substitution C T intron_variant MELA-AU 8 87431529 87431529 single base substitution C T intron_variant MELA-AU 8 87431747 87431747 single base substitution C T intron_variant MELA-AU 8 87431843 87431843 single base substitution C T intron_variant MELA-AU 8 87431863 87431863 deletion of <=200bp G - intron_variant MELA-AU 8 87433282 87433282 single base substitution T A intron_variant MELA-AU 8 87433746 87433747 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 87433820 87433820 single base substitution G A intron_variant MELA-AU 8 87434590 87434590 single base substitution A T intron_variant MELA-AU 8 87434712 87434712 single base substitution C T intron_variant MELA-AU 8 87435048 87435048 single base substitution G A intron_variant MELA-AU 8 87435171 87435171 single base substitution C T intron_variant MELA-AU 8 87435468 87435468 single base substitution T A intron_variant MELA-AU 8 87435813 87435813 single base substitution C T intron_variant MELA-AU 8 87436504 87436504 single base substitution C T intron_variant MELA-AU 8 87437949 87437949 single base substitution C T intron_variant MELA-AU 8 87438174 87438175 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 8 87438479 87438479 single base substitution G A intron_variant MELA-AU 8 87438495 87438495 single base substitution C T intron_variant MELA-AU 8 87438636 87438636 single base substitution C T intron_variant MELA-AU 8 87439247 87439247 single base substitution C G intron_variant MELA-AU 8 87440120 87440120 single base substitution C T intron_variant MELA-AU 8 87440513 87440513 single base substitution C G intron_variant MELA-AU 8 87440747 87440747 single base substitution G A intron_variant MELA-AU 8 87441285 87441285 single base substitution C T intron_variant MELA-AU 8 87441485 87441486 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 8 87442262 87442262 single base substitution T A intron_variant MELA-AU 8 87442687 87442687 single base substitution A T intron_variant MELA-AU 8 87442687 87442687 single base substitution A T upstream_gene_variant MELA-AU 8 87443893 87443893 single base substitution C T downstream_gene_variant MELA-AU 8 87443893 87443893 single base substitution C T exon_variant MELA-AU 8 87443893 87443893 single base substitution C T missense_variant R290C 868C>T MELA-AU 8 87443893 87443893 single base substitution C T missense_variant R378C 1132C>T MELA-AU 8 87443893 87443893 single base substitution C T missense_variant R508C 1522C>T MELA-AU 8 87443893 87443893 single base substitution C T upstream_gene_variant MELA-AU 8 87444127 87444127 single base substitution T C downstream_gene_variant MELA-AU 8 87444127 87444127 single base substitution T C intron_variant MELA-AU 8 87444127 87444127 single base substitution T C upstream_gene_variant MELA-AU 8 87444589 87444589 single base substitution C T downstream_gene_variant MELA-AU 8 87444589 87444589 single base substitution C T intron_variant MELA-AU 8 87444589 87444589 single base substitution C T upstream_gene_variant MELA-AU 8 87444696 87444697 multiple base substitution (>=2bp and <=200bp) AC TT downstream_gene_variant MELA-AU 8 87444696 87444697 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 8 87444696 87444697 multiple base substitution (>=2bp and <=200bp) AC TT upstream_gene_variant MELA-AU 8 87444710 87444710 single base substitution T C downstream_gene_variant MELA-AU 8 87444710 87444710 single base substitution T C intron_variant MELA-AU 8 87444710 87444710 single base substitution T C upstream_gene_variant MELA-AU 8 87444841 87444841 single base substitution T C downstream_gene_variant MELA-AU 8 87444841 87444841 single base substitution T C intron_variant MELA-AU 8 87444841 87444841 single base substitution T C upstream_gene_variant MELA-AU 8 87444866 87444866 single base substitution C T downstream_gene_variant MELA-AU 8 87444866 87444866 single base substitution C T intron_variant MELA-AU 8 87444866 87444866 single base substitution C T upstream_gene_variant MELA-AU 8 87445159 87445159 single base substitution C T downstream_gene_variant MELA-AU 8 87445159 87445159 single base substitution C T intron_variant MELA-AU 8 87445159 87445159 single base substitution C T upstream_gene_variant MELA-AU 8 87445232 87445232 single base substitution G A downstream_gene_variant MELA-AU 8 87445232 87445232 single base substitution G A intron_variant MELA-AU 8 87445232 87445232 single base substitution G A upstream_gene_variant MELA-AU 8 87446960 87446961 multiple base substitution (>=2bp and <=200bp) CT TC downstream_gene_variant MELA-AU 8 87446960 87446961 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 8 87446960 87446961 multiple base substitution (>=2bp and <=200bp) CT TC upstream_gene_variant MELA-AU 8 87447644 87447644 single base substitution T A downstream_gene_variant MELA-AU 8 87447644 87447644 single base substitution T A intron_variant MELA-AU 8 87447644 87447644 single base substitution T A upstream_gene_variant MELA-AU 8 87447672 87447672 single base substitution T A downstream_gene_variant MELA-AU 8 87447672 87447672 single base substitution T A intron_variant MELA-AU 8 87447672 87447672 single base substitution T A upstream_gene_variant MELA-AU 8 87447919 87447919 single base substitution G A downstream_gene_variant MELA-AU 8 87447919 87447919 single base substitution G A exon_variant MELA-AU 8 87447919 87447919 single base substitution G A missense_variant D361N 1081G>A MELA-AU 8 87447919 87447919 single base substitution G A missense_variant D43N 127G>A MELA-AU 8 87447919 87447919 single base substitution G A missense_variant D449N 1345G>A MELA-AU 8 87447919 87447919 single base substitution G A missense_variant D579N 1735G>A MELA-AU 8 87448146 87448146 single base substitution C T downstream_gene_variant MELA-AU 8 87448146 87448146 single base substitution C T intron_variant MELA-AU 8 87448284 87448284 single base substitution C T downstream_gene_variant MELA-AU 8 87448284 87448284 single base substitution C T intron_variant MELA-AU 8 87448329 87448329 single base substitution C T downstream_gene_variant MELA-AU 8 87448329 87448329 single base substitution C T intron_variant MELA-AU 8 87448345 87448345 single base substitution C T downstream_gene_variant MELA-AU 8 87448345 87448345 single base substitution C T intron_variant MELA-AU 8 87448561 87448561 single base substitution C T downstream_gene_variant MELA-AU 8 87448561 87448561 single base substitution C T intron_variant MELA-AU 8 87449249 87449249 single base substitution G A intron_variant MELA-AU 8 87449421 87449421 single base substitution G A intron_variant MELA-AU 8 87449885 87449885 single base substitution G C intron_variant MELA-AU 8 87449885 87449885 single base substitution G C upstream_gene_variant MELA-AU 8 87450049 87450049 single base substitution G T intron_variant MELA-AU 8 87450049 87450049 single base substitution G T upstream_gene_variant MELA-AU 8 87450594 87450595 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 87450594 87450595 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 8 87452115 87452115 single base substitution G A intron_variant MELA-AU 8 87452115 87452115 single base substitution G A upstream_gene_variant MELA-AU 8 87452780 87452780 single base substitution C T intron_variant MELA-AU 8 87452780 87452780 single base substitution C T upstream_gene_variant MELA-AU 8 87453159 87453159 single base substitution C T intron_variant MELA-AU 8 87453159 87453159 single base substitution C T upstream_gene_variant MELA-AU 8 87453465 87453465 single base substitution C T intron_variant MELA-AU 8 87453465 87453465 single base substitution C T upstream_gene_variant MELA-AU 8 87453581 87453581 single base substitution C T intron_variant MELA-AU 8 87453581 87453581 single base substitution C T upstream_gene_variant MELA-AU 8 87453818 87453818 single base substitution C T intron_variant MELA-AU 8 87453818 87453818 single base substitution C T upstream_gene_variant MELA-AU 8 87453954 87453955 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 87453954 87453955 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 8 87455032 87455032 single base substitution T A intron_variant MELA-AU 8 87455424 87455424 single base substitution C T intron_variant MELA-AU 8 87455812 87455812 single base substitution T C intron_variant MELA-AU 8 87455891 87455891 single base substitution T A intron_variant MELA-AU 8 87456331 87456331 single base substitution C T intron_variant MELA-AU 8 87456652 87456652 single base substitution T C intron_variant MELA-AU 8 87457149 87457149 single base substitution G T intron_variant MELA-AU 8 87457575 87457575 single base substitution C T intron_variant MELA-AU 8 87458087 87458087 single base substitution G A intron_variant MELA-AU 8 87458124 87458124 single base substitution C T intron_variant MELA-AU 8 87458414 87458414 single base substitution T C intron_variant MELA-AU 8 87459047 87459047 single base substitution G A intron_variant MELA-AU 8 87460159 87460159 single base substitution G A intron_variant MELA-AU 8 87460239 87460239 single base substitution T G intron_variant MELA-AU 8 87461182 87461182 single base substitution C T downstream_gene_variant MELA-AU 8 87461182 87461182 single base substitution C T intron_variant MELA-AU 8 87462119 87462119 single base substitution G C downstream_gene_variant MELA-AU 8 87462119 87462119 single base substitution G C intron_variant MELA-AU 8 87463787 87463788 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 8 87463787 87463788 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 87464206 87464206 single base substitution C T downstream_gene_variant MELA-AU 8 87464206 87464206 single base substitution C T intron_variant MELA-AU 8 87465059 87465059 single base substitution C A downstream_gene_variant MELA-AU 8 87465059 87465059 single base substitution C A intron_variant MELA-AU 8 87465257 87465257 single base substitution T A downstream_gene_variant MELA-AU 8 87465257 87465257 single base substitution T A intron_variant MELA-AU 8 87465257 87465257 single base substitution T A upstream_gene_variant MELA-AU 8 87465460 87465460 single base substitution C T downstream_gene_variant MELA-AU 8 87465460 87465460 single base substitution C T intron_variant MELA-AU 8 87465460 87465460 single base substitution C T upstream_gene_variant MELA-AU 8 87465573 87465573 single base substitution C T downstream_gene_variant MELA-AU 8 87465573 87465573 single base substitution C T intron_variant MELA-AU 8 87465573 87465573 single base substitution C T upstream_gene_variant MELA-AU 8 87465619 87465619 single base substitution A T downstream_gene_variant MELA-AU 8 87465619 87465619 single base substitution A T intron_variant MELA-AU 8 87465619 87465619 single base substitution A T upstream_gene_variant MELA-AU 8 87467268 87467268 single base substitution T A downstream_gene_variant MELA-AU 8 87467268 87467268 single base substitution T A intron_variant MELA-AU 8 87467268 87467268 single base substitution T A upstream_gene_variant MELA-AU 8 87469093 87469093 single base substitution C T downstream_gene_variant MELA-AU 8 87469093 87469093 single base substitution C T intron_variant MELA-AU 8 87469093 87469093 single base substitution C T upstream_gene_variant MELA-AU 8 87469550 87469550 single base substitution A T downstream_gene_variant MELA-AU 8 87469550 87469550 single base substitution A T intron_variant MELA-AU 8 87469550 87469550 single base substitution A T upstream_gene_variant MELA-AU 8 87470171 87470171 single base substitution G A missense_variant E588K 1762G>A MELA-AU 8 87470171 87470171 single base substitution G A missense_variant E676K 2026G>A MELA-AU 8 87470171 87470171 single base substitution G A missense_variant E806K 2416G>A MELA-AU 8 87470171 87470171 single base substitution G A upstream_gene_variant MELA-AU 8 87470499 87470499 single base substitution A G intron_variant MELA-AU 8 87470499 87470499 single base substitution A G upstream_gene_variant MELA-AU 8 87474179 87474179 single base substitution G A downstream_gene_variant MELA-AU 8 87474179 87474179 single base substitution G A intron_variant MELA-AU 8 87474244 87474244 single base substitution T C downstream_gene_variant MELA-AU 8 87474244 87474244 single base substitution T C intron_variant MELA-AU 8 87476830 87476830 single base substitution A G downstream_gene_variant MELA-AU 8 87476830 87476830 single base substitution A G intron_variant MELA-AU 8 87477045 87477045 single base substitution G A downstream_gene_variant MELA-AU 8 87477045 87477045 single base substitution G A intron_variant MELA-AU 8 87477080 87477080 single base substitution T C downstream_gene_variant MELA-AU 8 87477080 87477080 single base substitution T C intron_variant MELA-AU 8 87479818 87479818 single base substitution G A 3_prime_UTR_variant MELA-AU 8 87479818 87479818 single base substitution G A downstream_gene_variant MELA-AU 8 87479818 87479818 single base substitution G A intron_variant MELA-AU 8 87480849 87480849 single base substitution G A downstream_gene_variant MELA-AU 8 87480849 87480849 single base substitution G A intron_variant MELA-AU 8 87480961 87480961 single base substitution T C downstream_gene_variant MELA-AU 8 87480961 87480961 single base substitution T C intron_variant MELA-AU 8 87482428 87482428 single base substitution C A downstream_gene_variant MELA-AU 8 87482428 87482428 single base substitution C A intron_variant MELA-AU 8 87482571 87482571 single base substitution C T downstream_gene_variant MELA-AU 8 87482571 87482571 single base substitution C T intron_variant MELA-AU 8 87482640 87482640 single base substitution C T downstream_gene_variant MELA-AU 8 87482640 87482640 single base substitution C T intron_variant MELA-AU 8 87482909 87482909 single base substitution C T downstream_gene_variant MELA-AU 8 87482909 87482909 single base substitution C T intron_variant MELA-AU 8 87483702 87483702 single base substitution T C downstream_gene_variant MELA-AU 8 87483702 87483702 single base substitution T C intron_variant MELA-AU 8 87483786 87483786 single base substitution A T downstream_gene_variant MELA-AU 8 87483786 87483786 single base substitution A T intron_variant MELA-AU 8 87484068 87484068 single base substitution G A downstream_gene_variant MELA-AU 8 87484068 87484068 single base substitution G A intron_variant MELA-AU 8 87484608 87484608 single base substitution C T downstream_gene_variant MELA-AU 8 87484608 87484608 single base substitution C T intron_variant MELA-AU 8 87485778 87485778 single base substitution T G intron_variant MELA-AU 8 87486334 87486334 single base substitution G A intron_variant MELA-AU 8 87487057 87487057 single base substitution C T intron_variant MELA-AU 8 87488452 87488452 single base substitution T C intron_variant MELA-AU 8 87488471 87488471 single base substitution C T intron_variant MELA-AU 8 87490535 87490536 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 8 87491296 87491296 single base substitution G C downstream_gene_variant MELA-AU 8 87492817 87492817 single base substitution A C downstream_gene_variant MELA-AU 8 87492964 87492964 single base substitution C T downstream_gene_variant MELA-AU 8 87493634 87493634 single base substitution A T downstream_gene_variant MELA-AU 8 87493685 87493686 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 87494004 87494004 single base substitution C T downstream_gene_variant MELA-AU 8 87494857 87494857 single base substitution G A downstream_gene_variant ORCA-IN 8 87353714 87353714 single base substitution A G upstream_gene_variant ORCA-IN 8 87366540 87366540 single base substitution G A intron_variant ORCA-IN 8 87369320 87369320 single base substitution T A intron_variant ORCA-IN 8 87399386 87399386 single base substitution A G downstream_gene_variant ORCA-IN 8 87399386 87399386 single base substitution A G intron_variant ORCA-IN 8 87415281 87415281 single base substitution C G intron_variant ORCA-IN 8 87415281 87415281 single base substitution C G upstream_gene_variant ORCA-IN 8 87493700 87493700 single base substitution G T downstream_gene_variant OV-AU 8 87356538 87356538 single base substitution G C intron_variant OV-AU 8 87357331 87357331 single base substitution C T intron_variant OV-AU 8 87361037 87361037 single base substitution G C intron_variant OV-AU 8 87372382 87372382 single base substitution C A intron_variant OV-AU 8 87384822 87384822 single base substitution G A intron_variant OV-AU 8 87384822 87384822 single base substitution G A upstream_gene_variant OV-AU 8 87386317 87386317 single base substitution A G exon_variant OV-AU 8 87386317 87386317 single base substitution A G missense_variant N13S 38A>G OV-AU 8 87386985 87386985 single base substitution C T intron_variant OV-AU 8 87387611 87387611 single base substitution G T intron_variant OV-AU 8 87392352 87392352 single base substitution A C intron_variant OV-AU 8 87392352 87392352 single base substitution A C upstream_gene_variant OV-AU 8 87393958 87393958 single base substitution A G intron_variant OV-AU 8 87401123 87401123 single base substitution A G downstream_gene_variant OV-AU 8 87401123 87401123 single base substitution A G intron_variant OV-AU 8 87402099 87402099 single base substitution G T downstream_gene_variant OV-AU 8 87402099 87402099 single base substitution G T intron_variant OV-AU 8 87402703 87402703 single base substitution C T downstream_gene_variant OV-AU 8 87402703 87402703 single base substitution C T intron_variant OV-AU 8 87413932 87413932 single base substitution T G intron_variant OV-AU 8 87413932 87413932 single base substitution T G upstream_gene_variant OV-AU 8 87415166 87415166 single base substitution C T intron_variant OV-AU 8 87415166 87415166 single base substitution C T upstream_gene_variant OV-AU 8 87422053 87422053 single base substitution C T intron_variant OV-AU 8 87424526 87424526 single base substitution G T intron_variant OV-AU 8 87424526 87424526 single base substitution G T upstream_gene_variant OV-AU 8 87425692 87425692 single base substitution T C intron_variant OV-AU 8 87425692 87425692 single base substitution T C upstream_gene_variant OV-AU 8 87425895 87425895 single base substitution G C intron_variant OV-AU 8 87425895 87425895 single base substitution G C upstream_gene_variant OV-AU 8 87438938 87438938 single base substitution T C intron_variant OV-AU 8 87439647 87439647 single base substitution C A intron_variant OV-AU 8 87442845 87442845 single base substitution C T intron_variant OV-AU 8 87442845 87442845 single base substitution C T upstream_gene_variant OV-AU 8 87446306 87446306 single base substitution T C downstream_gene_variant OV-AU 8 87446306 87446306 single base substitution T C intron_variant OV-AU 8 87446306 87446306 single base substitution T C upstream_gene_variant OV-AU 8 87447376 87447376 single base substitution A T downstream_gene_variant OV-AU 8 87447376 87447376 single base substitution A T intron_variant OV-AU 8 87447376 87447376 single base substitution A T upstream_gene_variant OV-AU 8 87450981 87450981 single base substitution T C intron_variant OV-AU 8 87450981 87450981 single base substitution T C upstream_gene_variant OV-AU 8 87453846 87453846 single base substitution G C intron_variant OV-AU 8 87453846 87453846 single base substitution G C upstream_gene_variant OV-AU 8 87454960 87454960 single base substitution C G exon_variant OV-AU 8 87454960 87454960 single base substitution C G missense_variant P151A 451C>G OV-AU 8 87454960 87454960 single base substitution C G missense_variant P433A 1297C>G OV-AU 8 87454960 87454960 single base substitution C G missense_variant P521A 1561C>G OV-AU 8 87454960 87454960 single base substitution C G missense_variant P651A 1951C>G OV-AU 8 87455250 87455250 single base substitution A G intron_variant OV-AU 8 87458732 87458732 single base substitution T G intron_variant OV-AU 8 87459946 87459946 single base substitution G C intron_variant OV-AU 8 87463343 87463343 single base substitution G A downstream_gene_variant OV-AU 8 87463343 87463343 single base substitution G A intron_variant OV-AU 8 87468800 87468800 single base substitution A G downstream_gene_variant OV-AU 8 87468800 87468800 single base substitution A G intron_variant OV-AU 8 87468800 87468800 single base substitution A G upstream_gene_variant OV-AU 8 87468989 87468989 single base substitution T G downstream_gene_variant OV-AU 8 87468989 87468989 single base substitution T G intron_variant OV-AU 8 87468989 87468989 single base substitution T G upstream_gene_variant OV-AU 8 87471707 87471707 single base substitution G C intron_variant OV-AU 8 87471707 87471707 single base substitution G C upstream_gene_variant OV-AU 8 87473872 87473872 single base substitution C A exon_variant OV-AU 8 87473872 87473872 single base substitution C A intron_variant OV-AU 8 87473874 87473874 single base substitution G A exon_variant OV-AU 8 87473874 87473874 single base substitution G A intron_variant OV-AU 8 87473875 87473875 single base substitution C A exon_variant OV-AU 8 87473875 87473875 single base substitution C A intron_variant OV-AU 8 87476603 87476603 single base substitution T C downstream_gene_variant OV-AU 8 87476603 87476603 single base substitution T C intron_variant OV-AU 8 87479893 87479893 single base substitution A C 3_prime_UTR_variant OV-AU 8 87479893 87479893 single base substitution A C downstream_gene_variant OV-AU 8 87479893 87479893 single base substitution A C intron_variant OV-AU 8 87481105 87481105 single base substitution T C downstream_gene_variant OV-AU 8 87481105 87481105 single base substitution T C intron_variant OV-AU 8 87484662 87484662 single base substitution A T downstream_gene_variant OV-AU 8 87484662 87484662 single base substitution A T intron_variant OV-AU 8 87491247 87491247 single base substitution G T downstream_gene_variant PACA-AU 8 87350909 87350909 single base substitution G A upstream_gene_variant PACA-AU 8 87351262 87351262 single base substitution C A upstream_gene_variant PACA-AU 8 87356298 87356298 single base substitution G A intron_variant PACA-AU 8 87358491 87358491 insertion of <=200bp - A intron_variant PACA-AU 8 87362002 87362002 single base substitution G A intron_variant PACA-AU 8 87365455 87365461 deletion of <=200bp TAACTGT - intron_variant PACA-AU 8 87365970 87365970 single base substitution C T intron_variant PACA-AU 8 87368270 87368270 single base substitution C G intron_variant PACA-AU 8 87368680 87368680 single base substitution T A intron_variant PACA-AU 8 87368917 87368917 single base substitution G T intron_variant PACA-AU 8 87369442 87369442 single base substitution G A intron_variant PACA-AU 8 87371723 87371723 single base substitution G A intron_variant PACA-AU 8 87372278 87372284 deletion of <=200bp AAAAACA - intron_variant PACA-AU 8 87374222 87374222 single base substitution C T intron_variant PACA-AU 8 87377036 87377039 deletion of <=200bp GAAA - intron_variant PACA-AU 8 87377063 87377063 insertion of <=200bp - AG intron_variant PACA-AU 8 87377796 87377796 single base substitution C T intron_variant PACA-AU 8 87378559 87378559 single base substitution T C intron_variant PACA-AU 8 87378889 87378889 single base substitution T G intron_variant PACA-AU 8 87379406 87379406 single base substitution C T intron_variant PACA-AU 8 87379479 87379479 single base substitution T A intron_variant PACA-AU 8 87382392 87382392 single base substitution C A intron_variant PACA-AU 8 87382392 87382392 single base substitution C A upstream_gene_variant PACA-AU 8 87384568 87384568 single base substitution T A intron_variant PACA-AU 8 87384568 87384568 single base substitution T A upstream_gene_variant PACA-AU 8 87385067 87385067 single base substitution T G intron_variant PACA-AU 8 87385067 87385067 single base substitution T G upstream_gene_variant PACA-AU 8 87385381 87385381 single base substitution G A intron_variant PACA-AU 8 87385381 87385381 single base substitution G A upstream_gene_variant PACA-AU 8 87391209 87391209 single base substitution T C intron_variant PACA-AU 8 87391209 87391209 single base substitution T C upstream_gene_variant PACA-AU 8 87397352 87397352 deletion of <=200bp T - intron_variant PACA-AU 8 87402708 87402708 single base substitution G A downstream_gene_variant PACA-AU 8 87402708 87402708 single base substitution G A intron_variant PACA-AU 8 87405179 87405188 deletion of <=200bp AACGTAGCGT - intron_variant PACA-AU 8 87412568 87412568 deletion of <=200bp A - intron_variant PACA-AU 8 87412568 87412568 deletion of <=200bp A - upstream_gene_variant PACA-AU 8 87421177 87421177 single base substitution A G intron_variant PACA-AU 8 87426482 87426482 single base substitution G A intron_variant PACA-AU 8 87426482 87426482 single base substitution G A upstream_gene_variant PACA-AU 8 87428102 87428102 single base substitution T C intron_variant PACA-AU 8 87428102 87428102 single base substitution T C upstream_gene_variant PACA-AU 8 87434356 87434356 single base substitution C T intron_variant PACA-AU 8 87434595 87434595 single base substitution T A intron_variant PACA-AU 8 87436940 87436940 single base substitution G A intron_variant PACA-AU 8 87440272 87440272 single base substitution C T intron_variant PACA-AU 8 87451140 87451140 deletion of <=200bp T - intron_variant PACA-AU 8 87451140 87451140 deletion of <=200bp T - upstream_gene_variant PACA-AU 8 87453942 87453942 single base substitution G T intron_variant PACA-AU 8 87453942 87453942 single base substitution G T upstream_gene_variant PACA-AU 8 87454232 87454232 single base substitution T C intron_variant PACA-AU 8 87454232 87454232 single base substitution T C upstream_gene_variant PACA-AU 8 87454307 87454307 single base substitution G T intron_variant PACA-AU 8 87454307 87454307 single base substitution G T upstream_gene_variant PACA-AU 8 87458144 87458144 single base substitution G A intron_variant PACA-AU 8 87458210 87458210 single base substitution T C intron_variant PACA-AU 8 87458213 87458213 single base substitution T C intron_variant PACA-AU 8 87458318 87458318 single base substitution C T intron_variant PACA-AU 8 87459643 87459643 single base substitution G A intron_variant PACA-AU 8 87463304 87463304 single base substitution T A downstream_gene_variant PACA-AU 8 87463304 87463304 single base substitution T A intron_variant PACA-AU 8 87464747 87464747 single base substitution C T downstream_gene_variant PACA-AU 8 87464747 87464747 single base substitution C T intron_variant PACA-AU 8 87465458 87465458 single base substitution T C downstream_gene_variant PACA-AU 8 87465458 87465458 single base substitution T C intron_variant PACA-AU 8 87465458 87465458 single base substitution T C upstream_gene_variant PACA-AU 8 87471881 87471881 single base substitution T C intron_variant PACA-AU 8 87471881 87471881 single base substitution T C upstream_gene_variant PACA-AU 8 87472877 87472877 single base substitution C A intron_variant PACA-AU 8 87472877 87472877 single base substitution C A upstream_gene_variant PACA-AU 8 87474864 87474864 single base substitution G A downstream_gene_variant PACA-AU 8 87474864 87474864 single base substitution G A intron_variant PACA-AU 8 87481526 87481526 single base substitution T A downstream_gene_variant PACA-AU 8 87481526 87481526 single base substitution T A intron_variant PACA-AU 8 87484519 87484519 single base substitution A C downstream_gene_variant PACA-AU 8 87484519 87484519 single base substitution A C intron_variant PACA-AU 8 87485220 87485220 single base substitution A G downstream_gene_variant PACA-AU 8 87485220 87485220 single base substitution A G intron_variant PACA-AU 8 87486022 87486022 deletion of <=200bp T - intron_variant PACA-AU 8 87490917 87490917 single base substitution G T downstream_gene_variant PACA-AU 8 87493550 87493550 single base substitution T C downstream_gene_variant PACA-AU 8 87495510 87495510 single base substitution T A downstream_gene_variant PACA-AU 8 87495518 87495518 single base substitution A T downstream_gene_variant PACA-CA 8 87358248 87358248 single base substitution T C intron_variant PACA-CA 8 87362674 87362674 single base substitution C T intron_variant PACA-CA 8 87363684 87363684 single base substitution C T intron_variant PACA-CA 8 87364452 87364452 single base substitution T C intron_variant PACA-CA 8 87369013 87369013 single base substitution A T intron_variant PACA-CA 8 87371206 87371206 single base substitution C T intron_variant PACA-CA 8 87373717 87373717 single base substitution A G intron_variant PACA-CA 8 87375074 87375074 single base substitution C T intron_variant PACA-CA 8 87375901 87375901 single base substitution T C intron_variant PACA-CA 8 87378414 87378414 single base substitution G C intron_variant PACA-CA 8 87383254 87383254 single base substitution C G intron_variant PACA-CA 8 87383254 87383254 single base substitution C G upstream_gene_variant PACA-CA 8 87389324 87389324 insertion of <=200bp - T intron_variant PACA-CA 8 87389324 87389324 insertion of <=200bp - T upstream_gene_variant PACA-CA 8 87389325 87389325 deletion of <=200bp T - intron_variant PACA-CA 8 87389325 87389325 deletion of <=200bp T - upstream_gene_variant PACA-CA 8 87390084 87390084 single base substitution A G intron_variant PACA-CA 8 87390084 87390084 single base substitution A G upstream_gene_variant PACA-CA 8 87390089 87390089 single base substitution A T intron_variant PACA-CA 8 87390089 87390089 single base substitution A T upstream_gene_variant PACA-CA 8 87392905 87392905 single base substitution G A intron_variant PACA-CA 8 87392905 87392905 single base substitution G A upstream_gene_variant PACA-CA 8 87393328 87393328 single base substitution G C intron_variant PACA-CA 8 87393693 87393693 single base substitution C T intron_variant PACA-CA 8 87396433 87396433 single base substitution C T intron_variant PACA-CA 8 87396603 87396603 single base substitution C A intron_variant PACA-CA 8 87398479 87398479 single base substitution A T intron_variant PACA-CA 8 87398933 87398933 single base substitution A C intron_variant PACA-CA 8 87400821 87400821 single base substitution C G downstream_gene_variant PACA-CA 8 87400821 87400821 single base substitution C G intron_variant PACA-CA 8 87411408 87411408 single base substitution A G intron_variant PACA-CA 8 87412568 87412568 deletion of <=200bp A - intron_variant PACA-CA 8 87412568 87412568 deletion of <=200bp A - upstream_gene_variant PACA-CA 8 87414622 87414622 deletion of <=200bp C - intron_variant PACA-CA 8 87414622 87414622 deletion of <=200bp C - upstream_gene_variant PACA-CA 8 87415379 87415379 single base substitution G A intron_variant PACA-CA 8 87415379 87415379 single base substitution G A upstream_gene_variant PACA-CA 8 87415994 87415994 single base substitution A T intron_variant PACA-CA 8 87415994 87415994 single base substitution A T upstream_gene_variant PACA-CA 8 87419737 87419737 single base substitution C T intron_variant PACA-CA 8 87419782 87419783 deletion of <=200bp TT - intron_variant PACA-CA 8 87420540 87420540 single base substitution A G intron_variant PACA-CA 8 87421600 87421600 single base substitution T C intron_variant PACA-CA 8 87422489 87422489 single base substitution G C intron_variant PACA-CA 8 87426794 87426794 single base substitution T G intron_variant PACA-CA 8 87426794 87426794 single base substitution T G upstream_gene_variant PACA-CA 8 87433561 87433561 single base substitution G A intron_variant PACA-CA 8 87437586 87437586 single base substitution A T intron_variant PACA-CA 8 87442190 87442190 single base substitution G C intron_variant PACA-CA 8 87445295 87445295 single base substitution T C downstream_gene_variant PACA-CA 8 87445295 87445295 single base substitution T C intron_variant PACA-CA 8 87445295 87445295 single base substitution T C upstream_gene_variant PACA-CA 8 87445484 87445484 single base substitution T C downstream_gene_variant PACA-CA 8 87445484 87445484 single base substitution T C intron_variant PACA-CA 8 87445484 87445484 single base substitution T C upstream_gene_variant PACA-CA 8 87446529 87446529 single base substitution C G downstream_gene_variant PACA-CA 8 87446529 87446529 single base substitution C G intron_variant PACA-CA 8 87446529 87446529 single base substitution C G upstream_gene_variant PACA-CA 8 87447149 87447149 single base substitution C G downstream_gene_variant PACA-CA 8 87447149 87447149 single base substitution C G intron_variant PACA-CA 8 87447149 87447149 single base substitution C G upstream_gene_variant PACA-CA 8 87448606 87448606 single base substitution C G downstream_gene_variant PACA-CA 8 87448606 87448606 single base substitution C G intron_variant PACA-CA 8 87459895 87459895 single base substitution A T intron_variant PACA-CA 8 87463311 87463311 single base substitution A T downstream_gene_variant PACA-CA 8 87463311 87463311 single base substitution A T intron_variant PACA-CA 8 87468073 87468073 single base substitution A T downstream_gene_variant PACA-CA 8 87468073 87468073 single base substitution A T intron_variant PACA-CA 8 87468073 87468073 single base substitution A T upstream_gene_variant PACA-CA 8 87469655 87469662 deletion of <=200bp TCTGTCTA - downstream_gene_variant PACA-CA 8 87469655 87469662 deletion of <=200bp TCTGTCTA - intron_variant PACA-CA 8 87469655 87469662 deletion of <=200bp TCTGTCTA - upstream_gene_variant PACA-CA 8 87471621 87471621 single base substitution A T intron_variant PACA-CA 8 87471621 87471621 single base substitution A T upstream_gene_variant PACA-CA 8 87474044 87474045 deletion of <=200bp AA - downstream_gene_variant PACA-CA 8 87474044 87474045 deletion of <=200bp AA - frameshift_variant K46 PACA-CA 8 87474044 87474045 deletion of <=200bp AA - frameshift_variant K662 PACA-CA 8 87474044 87474045 deletion of <=200bp AA - frameshift_variant K750 PACA-CA 8 87474044 87474045 deletion of <=200bp AA - frameshift_variant K880 PACA-CA 8 87474553 87474553 single base substitution G A downstream_gene_variant PACA-CA 8 87474553 87474553 single base substitution G A intron_variant PACA-CA 8 87476391 87476391 single base substitution G T downstream_gene_variant PACA-CA 8 87476391 87476391 single base substitution G T intron_variant PACA-CA 8 87476778 87476778 single base substitution T G downstream_gene_variant PACA-CA 8 87476778 87476778 single base substitution T G intron_variant PACA-CA 8 87481392 87481392 insertion of <=200bp - T downstream_gene_variant PACA-CA 8 87481392 87481392 insertion of <=200bp - T intron_variant PACA-CA 8 87484844 87484844 single base substitution C A downstream_gene_variant PACA-CA 8 87484844 87484844 single base substitution C A intron_variant PACA-CA 8 87491515 87491515 single base substitution A G downstream_gene_variant PACA-CA 8 87492000 87492000 single base substitution T C downstream_gene_variant PACA-CA 8 87492067 87492067 single base substitution C A downstream_gene_variant PACA-CA 8 87493602 87493602 single base substitution C G downstream_gene_variant PAEN-AU 8 87401228 87401228 single base substitution A G downstream_gene_variant PAEN-AU 8 87401228 87401228 single base substitution A G intron_variant PAEN-AU 8 87405545 87405545 single base substitution C A intron_variant PAEN-AU 8 87429827 87429827 single base substitution G A intron_variant PAEN-AU 8 87430338 87430338 single base substitution A T intron_variant PAEN-IT 8 87351175 87351175 single base substitution C A upstream_gene_variant PAEN-IT 8 87369849 87369849 single base substitution G T intron_variant PAEN-IT 8 87383085 87383085 single base substitution T A intron_variant PAEN-IT 8 87383085 87383085 single base substitution T A upstream_gene_variant PAEN-IT 8 87389030 87389030 single base substitution G T intron_variant PAEN-IT 8 87389030 87389030 single base substitution G T upstream_gene_variant PAEN-IT 8 87419705 87419705 single base substitution A C intron_variant PAEN-IT 8 87476709 87476709 single base substitution A G downstream_gene_variant PAEN-IT 8 87476709 87476709 single base substitution A G intron_variant PBCA-DE 8 87358652 87358652 deletion of <=200bp A - intron_variant PBCA-DE 8 87362260 87362260 single base substitution G A intron_variant PBCA-DE 8 87369369 87369369 single base substitution T A intron_variant PBCA-DE 8 87386631 87386631 single base substitution A G intron_variant PBCA-DE 8 87390058 87390058 single base substitution A T intron_variant PBCA-DE 8 87390058 87390058 single base substitution A T upstream_gene_variant PBCA-DE 8 87408495 87408495 deletion of <=200bp T - intron_variant PBCA-DE 8 87410232 87410232 single base substitution C T intron_variant PBCA-DE 8 87412534 87412534 deletion of <=200bp T - intron_variant PBCA-DE 8 87412534 87412534 deletion of <=200bp T - upstream_gene_variant PBCA-DE 8 87414749 87414749 single base substitution G A intron_variant PBCA-DE 8 87414749 87414749 single base substitution G A upstream_gene_variant PBCA-DE 8 87422726 87422726 single base substitution G T intron_variant PBCA-DE 8 87427132 87427132 single base substitution G C intron_variant PBCA-DE 8 87427132 87427132 single base substitution G C upstream_gene_variant PBCA-DE 8 87428807 87428807 insertion of <=200bp - T intron_variant PBCA-DE 8 87428807 87428807 insertion of <=200bp - T upstream_gene_variant PBCA-DE 8 87433050 87433050 single base substitution G A intron_variant PBCA-DE 8 87434063 87434063 single base substitution A T intron_variant PBCA-DE 8 87444084 87444084 single base substitution A G downstream_gene_variant PBCA-DE 8 87444084 87444084 single base substitution A G intron_variant PBCA-DE 8 87444084 87444084 single base substitution A G upstream_gene_variant PBCA-DE 8 87450023 87450023 single base substitution A T intron_variant PBCA-DE 8 87450023 87450023 single base substitution A T upstream_gene_variant PBCA-DE 8 87451151 87451151 single base substitution G A intron_variant PBCA-DE 8 87451151 87451151 single base substitution G A upstream_gene_variant PBCA-DE 8 87469658 87469658 single base substitution G A downstream_gene_variant PBCA-DE 8 87469658 87469658 single base substitution G A intron_variant PBCA-DE 8 87469658 87469658 single base substitution G A upstream_gene_variant PBCA-DE 8 87471233 87471233 deletion of <=200bp C - intron_variant PBCA-DE 8 87471233 87471233 deletion of <=200bp C - upstream_gene_variant PBCA-DE 8 87485079 87485090 deletion of <=200bp ATGGTTCAAGGT - downstream_gene_variant PBCA-DE 8 87485079 87485090 deletion of <=200bp ATGGTTCAAGGT - intron_variant PBCA-DE 8 87493672 87493672 deletion of <=200bp T - downstream_gene_variant PRAD-CA 8 87368564 87368564 single base substitution A G intron_variant PRAD-CA 8 87374276 87374276 single base substitution C T intron_variant PRAD-CA 8 87377372 87377372 single base substitution T C intron_variant PRAD-CA 8 87377373 87377373 single base substitution A T intron_variant PRAD-CA 8 87392240 87392240 single base substitution A G intron_variant PRAD-CA 8 87392240 87392240 single base substitution A G upstream_gene_variant PRAD-CA 8 87488597 87488597 single base substitution T A intron_variant PRAD-UK 8 87352565 87352565 single base substitution G T upstream_gene_variant PRAD-UK 8 87358248 87358248 insertion of <=200bp - AG intron_variant PRAD-UK 8 87360533 87360533 single base substitution C T intron_variant PRAD-UK 8 87361789 87361789 single base substitution T C intron_variant PRAD-UK 8 87367360 87367360 single base substitution C T intron_variant PRAD-UK 8 87368738 87368738 single base substitution A G intron_variant PRAD-UK 8 87410483 87410483 single base substitution T G intron_variant PRAD-UK 8 87421265 87421265 single base substitution T A intron_variant PRAD-UK 8 87423417 87423417 single base substitution A C intron_variant PRAD-UK 8 87423456 87423456 single base substitution A G intron_variant PRAD-UK 8 87423514 87423514 single base substitution A C intron_variant PRAD-UK 8 87423581 87423581 single base substitution A C intron_variant PRAD-UK 8 87423603 87423603 single base substitution A C intron_variant PRAD-UK 8 87423768 87423768 single base substitution T A missense_variant F112L 336T>A PRAD-UK 8 87423768 87423768 single base substitution T A splice_region_variant PRAD-UK 8 87423786 87423786 single base substitution A C exon_variant PRAD-UK 8 87423786 87423786 single base substitution A C synonymous_variant S118S 354A>C PRAD-UK 8 87423786 87423786 single base substitution A C synonymous_variant S248S 744A>C PRAD-UK 8 87423786 87423786 single base substitution A C synonymous_variant S30S 90A>C PRAD-UK 8 87424239 87424239 single base substitution A C intron_variant PRAD-UK 8 87424322 87424322 deletion of <=200bp G - intron_variant PRAD-UK 8 87435130 87435130 single base substitution C G intron_variant PRAD-UK 8 87465853 87465853 single base substitution A G downstream_gene_variant PRAD-UK 8 87465853 87465853 single base substitution A G intron_variant PRAD-UK 8 87465853 87465853 single base substitution A G upstream_gene_variant PRAD-UK 8 87494730 87494730 single base substitution T G downstream_gene_variant PRAD-US 8 87423858 87423858 single base substitution T G exon_variant PRAD-US 8 87423858 87423858 single base substitution T G missense_variant N142K 426T>G PRAD-US 8 87423858 87423858 single base substitution T G missense_variant N272K 816T>G PRAD-US 8 87423858 87423858 single base substitution T G missense_variant N54K 162T>G PRAD-US 8 87470210 87470210 single base substitution C T stop_gained R601* 1801C>T PRAD-US 8 87470210 87470210 single base substitution C T stop_gained R689* 2065C>T PRAD-US 8 87470210 87470210 single base substitution C T stop_gained R819* 2455C>T PRAD-US 8 87470210 87470210 single base substitution C T upstream_gene_variant READ-US 8 87442935 87442935 single base substitution T C downstream_gene_variant READ-US 8 87442935 87442935 single base substitution T C exon_variant READ-US 8 87442935 87442935 single base substitution T C synonymous_variant L230L 688T>C READ-US 8 87442935 87442935 single base substitution T C synonymous_variant L318L 952T>C READ-US 8 87442935 87442935 single base substitution T C synonymous_variant L448L 1342T>C READ-US 8 87442935 87442935 single base substitution T C upstream_gene_variant READ-US 8 87443894 87443894 single base substitution G A downstream_gene_variant READ-US 8 87443894 87443894 single base substitution G A exon_variant READ-US 8 87443894 87443894 single base substitution G A missense_variant R290H 869G>A READ-US 8 87443894 87443894 single base substitution G A missense_variant R378H 1133G>A READ-US 8 87443894 87443894 single base substitution G A missense_variant R508H 1523G>A READ-US 8 87443894 87443894 single base substitution G A upstream_gene_variant READ-US 8 87464850 87464850 single base substitution G A downstream_gene_variant READ-US 8 87464850 87464850 single base substitution G A missense_variant G561D 1682G>A READ-US 8 87464850 87464850 single base substitution G A missense_variant G649D 1946G>A READ-US 8 87464850 87464850 single base substitution G A missense_variant G779D 2336G>A RECA-EU 8 87358494 87358494 single base substitution A G intron_variant RECA-EU 8 87373824 87373824 single base substitution T C intron_variant RECA-EU 8 87385630 87385630 single base substitution G A intron_variant RECA-EU 8 87385630 87385630 single base substitution G A upstream_gene_variant RECA-EU 8 87389835 87389835 single base substitution C T intron_variant RECA-EU 8 87389835 87389835 single base substitution C T upstream_gene_variant RECA-EU 8 87396676 87396676 single base substitution A G intron_variant RECA-EU 8 87409421 87409421 single base substitution C A intron_variant RECA-EU 8 87447029 87447029 single base substitution T C downstream_gene_variant RECA-EU 8 87447029 87447029 single base substitution T C intron_variant RECA-EU 8 87447029 87447029 single base substitution T C upstream_gene_variant RECA-EU 8 87447798 87447798 single base substitution C A downstream_gene_variant RECA-EU 8 87447798 87447798 single base substitution C A intron_variant RECA-EU 8 87447798 87447798 single base substitution C A upstream_gene_variant RECA-EU 8 87457286 87457286 single base substitution C T intron_variant RECA-EU 8 87458210 87458210 single base substitution T C intron_variant RECA-EU 8 87458690 87458690 single base substitution T G intron_variant RECA-EU 8 87470059 87470059 single base substitution C T intron_variant RECA-EU 8 87470059 87470059 single base substitution C T upstream_gene_variant RECA-EU 8 87472204 87472204 single base substitution T A intron_variant RECA-EU 8 87472204 87472204 single base substitution T A upstream_gene_variant RECA-EU 8 87474748 87474748 single base substitution G A downstream_gene_variant RECA-EU 8 87474748 87474748 single base substitution G A intron_variant RECA-EU 8 87486497 87486497 single base substitution A T intron_variant RECA-EU 8 87488989 87488989 single base substitution A G intron_variant SKCA-BR 8 87351890 87351890 single base substitution C T upstream_gene_variant SKCA-BR 8 87353539 87353539 single base substitution G A upstream_gene_variant SKCA-BR 8 87354843 87354843 single base substitution A G upstream_gene_variant SKCA-BR 8 87355688 87355688 single base substitution T C intron_variant SKCA-BR 8 87356118 87356118 single base substitution C T intron_variant SKCA-BR 8 87361561 87361561 single base substitution T A intron_variant SKCA-BR 8 87363528 87363528 single base substitution C T intron_variant SKCA-BR 8 87364274 87364274 single base substitution T G intron_variant SKCA-BR 8 87366092 87366092 single base substitution T A intron_variant SKCA-BR 8 87366240 87366240 single base substitution C T intron_variant SKCA-BR 8 87366913 87366913 single base substitution C T intron_variant SKCA-BR 8 87368650 87368650 single base substitution A G intron_variant SKCA-BR 8 87370707 87370708 deletion of <=200bp GA - intron_variant SKCA-BR 8 87370708 87370708 single base substitution A G intron_variant SKCA-BR 8 87370710 87370710 single base substitution T G intron_variant SKCA-BR 8 87373404 87373404 single base substitution A G intron_variant SKCA-BR 8 87377056 87377056 insertion of <=200bp - GAC intron_variant SKCA-BR 8 87381314 87381314 single base substitution C T intron_variant SKCA-BR 8 87381314 87381314 single base substitution C T upstream_gene_variant SKCA-BR 8 87384246 87384247 deletion of <=200bp AT - intron_variant SKCA-BR 8 87384246 87384247 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 8 87384283 87384283 single base substitution C T intron_variant SKCA-BR 8 87384283 87384283 single base substitution C T upstream_gene_variant SKCA-BR 8 87384618 87384618 single base substitution A C intron_variant SKCA-BR 8 87384618 87384618 single base substitution A C upstream_gene_variant SKCA-BR 8 87384706 87384706 single base substitution C T intron_variant SKCA-BR 8 87384706 87384706 single base substitution C T upstream_gene_variant SKCA-BR 8 87385299 87385300 deletion of <=200bp TG - intron_variant SKCA-BR 8 87385299 87385300 deletion of <=200bp TG - upstream_gene_variant SKCA-BR 8 87386197 87386197 single base substitution A T intron_variant SKCA-BR 8 87386197 87386197 single base substitution A T upstream_gene_variant SKCA-BR 8 87387427 87387427 single base substitution C T intron_variant SKCA-BR 8 87388502 87388502 single base substitution A T intron_variant SKCA-BR 8 87388502 87388502 single base substitution A T upstream_gene_variant SKCA-BR 8 87389481 87389482 deletion of <=200bp AT - intron_variant SKCA-BR 8 87389481 87389482 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 8 87401987 87401987 single base substitution T C downstream_gene_variant SKCA-BR 8 87401987 87401987 single base substitution T C intron_variant SKCA-BR 8 87403137 87403137 single base substitution T C downstream_gene_variant SKCA-BR 8 87403137 87403137 single base substitution T C intron_variant SKCA-BR 8 87403587 87403587 single base substitution G C downstream_gene_variant SKCA-BR 8 87403587 87403587 single base substitution G C intron_variant SKCA-BR 8 87406258 87406258 single base substitution T C intron_variant SKCA-BR 8 87407208 87407208 single base substitution T A intron_variant SKCA-BR 8 87407808 87407808 single base substitution C T intron_variant SKCA-BR 8 87408561 87408561 single base substitution C T intron_variant SKCA-BR 8 87411190 87411190 single base substitution A C intron_variant SKCA-BR 8 87412556 87412556 single base substitution C T intron_variant SKCA-BR 8 87412556 87412556 single base substitution C T upstream_gene_variant SKCA-BR 8 87413435 87413435 single base substitution C T intron_variant SKCA-BR 8 87413435 87413435 single base substitution C T upstream_gene_variant SKCA-BR 8 87421566 87421566 single base substitution A C intron_variant SKCA-BR 8 87422933 87422933 insertion of <=200bp - CT intron_variant SKCA-BR 8 87423935 87423935 single base substitution C T exon_variant SKCA-BR 8 87423935 87423935 single base substitution C T missense_variant S168F 503C>T SKCA-BR 8 87423935 87423935 single base substitution C T missense_variant S298F 893C>T SKCA-BR 8 87423935 87423935 single base substitution C T missense_variant S80F 239C>T SKCA-BR 8 87424928 87424928 insertion of <=200bp - GT intron_variant SKCA-BR 8 87424928 87424928 insertion of <=200bp - GT upstream_gene_variant SKCA-BR 8 87427375 87427375 single base substitution G A intron_variant SKCA-BR 8 87427375 87427375 single base substitution G A upstream_gene_variant SKCA-BR 8 87434548 87434564 deletion of <=200bp GTATTTATTTATTTATT - intron_variant SKCA-BR 8 87435534 87435534 single base substitution G A intron_variant SKCA-BR 8 87436050 87436050 single base substitution C G intron_variant SKCA-BR 8 87436057 87436057 single base substitution C T intron_variant SKCA-BR 8 87442071 87442071 single base substitution C T intron_variant SKCA-BR 8 87443390 87443394 deletion of <=200bp ATATT - downstream_gene_variant SKCA-BR 8 87443390 87443394 deletion of <=200bp ATATT - intron_variant SKCA-BR 8 87443390 87443394 deletion of <=200bp ATATT - upstream_gene_variant SKCA-BR 8 87446893 87446893 single base substitution C T downstream_gene_variant SKCA-BR 8 87446893 87446893 single base substitution C T intron_variant SKCA-BR 8 87446893 87446893 single base substitution C T upstream_gene_variant SKCA-BR 8 87448541 87448541 single base substitution A G downstream_gene_variant SKCA-BR 8 87448541 87448541 single base substitution A G intron_variant SKCA-BR 8 87450487 87450487 single base substitution G T intron_variant SKCA-BR 8 87450487 87450487 single base substitution G T upstream_gene_variant SKCA-BR 8 87452780 87452780 single base substitution C T intron_variant SKCA-BR 8 87452780 87452780 single base substitution C T upstream_gene_variant SKCA-BR 8 87453603 87453603 single base substitution T A intron_variant SKCA-BR 8 87453603 87453603 single base substitution T A upstream_gene_variant SKCA-BR 8 87454400 87454400 single base substitution C T intron_variant SKCA-BR 8 87454400 87454400 single base substitution C T upstream_gene_variant SKCA-BR 8 87454659 87454659 single base substitution C T exon_variant SKCA-BR 8 87454659 87454659 single base substitution C T intron_variant SKCA-BR 8 87458178 87458178 insertion of <=200bp - GTCTTT intron_variant SKCA-BR 8 87458210 87458210 single base substitution T C intron_variant SKCA-BR 8 87458744 87458744 insertion of <=200bp - TGCAATTCTTTTGA intron_variant SKCA-BR 8 87463638 87463638 single base substitution T G downstream_gene_variant SKCA-BR 8 87463638 87463638 single base substitution T G intron_variant SKCA-BR 8 87464817 87464817 single base substitution G A downstream_gene_variant SKCA-BR 8 87464817 87464817 single base substitution G A exon_variant SKCA-BR 8 87464817 87464817 single base substitution G A missense_variant G550E 1649G>A SKCA-BR 8 87464817 87464817 single base substitution G A missense_variant G638E 1913G>A SKCA-BR 8 87464817 87464817 single base substitution G A missense_variant G768E 2303G>A SKCA-BR 8 87471239 87471239 single base substitution C T intron_variant SKCA-BR 8 87471239 87471239 single base substitution C T upstream_gene_variant SKCA-BR 8 87476323 87476323 single base substitution A G downstream_gene_variant SKCA-BR 8 87476323 87476323 single base substitution A G intron_variant SKCA-BR 8 87477736 87477736 single base substitution T C downstream_gene_variant SKCA-BR 8 87477736 87477736 single base substitution T C intron_variant SKCA-BR 8 87480197 87480197 single base substitution C T 3_prime_UTR_variant SKCA-BR 8 87480197 87480197 single base substitution C T downstream_gene_variant SKCA-BR 8 87480197 87480197 single base substitution C T intron_variant SKCA-BR 8 87482244 87482244 single base substitution T C downstream_gene_variant SKCA-BR 8 87482244 87482244 single base substitution T C intron_variant SKCA-BR 8 87493789 87493790 deletion of <=200bp CT - downstream_gene_variant SKCM-US 8 87392992 87392992 single base substitution C T exon_variant SKCM-US 8 87392992 87392992 single base substitution C T intron_variant SKCM-US 8 87392992 87392992 single base substitution C T synonymous_variant F36F 108C>T SKCM-US 8 87392992 87392992 single base substitution C T upstream_gene_variant SKCM-US 8 87410599 87410599 single base substitution T A exon_variant SKCM-US 8 87410599 87410599 single base substitution T A intron_variant SKCM-US 8 87410599 87410599 single base substitution T A synonymous_variant L121L 363T>A SKCM-US 8 87424091 87424091 single base substitution C T exon_variant SKCM-US 8 87424091 87424091 single base substitution C T missense_variant T132I 395C>T SKCM-US 8 87424091 87424091 single base substitution C T missense_variant T220I 659C>T SKCM-US 8 87424091 87424091 single base substitution C T missense_variant T350I 1049C>T SKCM-US 8 87439898 87439898 single base substitution G A exon_variant SKCM-US 8 87439898 87439898 single base substitution G A missense_variant R177K 530G>A SKCM-US 8 87439898 87439898 single base substitution G A missense_variant R265K 794G>A SKCM-US 8 87439898 87439898 single base substitution G A missense_variant R395K 1184G>A SKCM-US 8 87439961 87439961 single base substitution C T exon_variant SKCM-US 8 87439961 87439961 single base substitution C T missense_variant S198F 593C>T SKCM-US 8 87439961 87439961 single base substitution C T missense_variant S286F 857C>T SKCM-US 8 87439961 87439961 single base substitution C T missense_variant S416F 1247C>T SKCM-US 8 87460461 87460461 single base substitution G A exon_variant SKCM-US 8 87460461 87460461 single base substitution G A missense_variant D195N 583G>A SKCM-US 8 87460461 87460461 single base substitution G A missense_variant D477N 1429G>A SKCM-US 8 87460461 87460461 single base substitution G A missense_variant D565N 1693G>A SKCM-US 8 87460461 87460461 single base substitution G A missense_variant D695N 2083G>A STAD-US 8 87393036 87393036 single base substitution C T exon_variant STAD-US 8 87393036 87393036 single base substitution C T intron_variant STAD-US 8 87393036 87393036 single base substitution C T missense_variant T51M 152C>T STAD-US 8 87393036 87393036 single base substitution C T upstream_gene_variant STAD-US 8 87393047 87393047 single base substitution A C exon_variant STAD-US 8 87393047 87393047 single base substitution A C intron_variant STAD-US 8 87393047 87393047 single base substitution A C missense_variant K55Q 163A>C STAD-US 8 87393781 87393781 single base substitution G A exon_variant STAD-US 8 87393781 87393781 single base substitution G A intron_variant STAD-US 8 87393781 87393781 single base substitution G A missense_variant R86H 257G>A STAD-US 8 87410844 87410844 single base substitution G A exon_variant STAD-US 8 87410844 87410844 single base substitution G A intron_variant STAD-US 8 87410844 87410844 single base substitution G A synonymous_variant E172E 516G>A STAD-US 8 87424021 87424021 single base substitution G A exon_variant STAD-US 8 87424021 87424021 single base substitution G A missense_variant A109T 325G>A STAD-US 8 87424021 87424021 single base substitution G A missense_variant A197T 589G>A STAD-US 8 87424021 87424021 single base substitution G A missense_variant A327T 979G>A STAD-US 8 87424099 87424099 single base substitution T G exon_variant STAD-US 8 87424099 87424099 single base substitution T G missense_variant S135A 403T>G STAD-US 8 87424099 87424099 single base substitution T G missense_variant S223A 667T>G STAD-US 8 87424099 87424099 single base substitution T G missense_variant S353A 1057T>G STAD-US 8 87443720 87443720 single base substitution G T downstream_gene_variant STAD-US 8 87443720 87443720 single base substitution G T splice_donor_variant STAD-US 8 87443720 87443720 single base substitution G T upstream_gene_variant STAD-US 8 87447904 87447904 single base substitution C T downstream_gene_variant STAD-US 8 87447904 87447904 single base substitution C T exon_variant STAD-US 8 87447904 87447904 single base substitution C T stop_gained Q356* 1066C>T STAD-US 8 87447904 87447904 single base substitution C T stop_gained Q38* 112C>T STAD-US 8 87447904 87447904 single base substitution C T stop_gained Q444* 1330C>T STAD-US 8 87447904 87447904 single base substitution C T stop_gained Q574* 1720C>T STAD-US 8 87454884 87454884 single base substitution C A exon_variant STAD-US 8 87454884 87454884 single base substitution C A missense_variant N125K 375C>A STAD-US 8 87454884 87454884 single base substitution C A missense_variant N407K 1221C>A STAD-US 8 87454884 87454884 single base substitution C A missense_variant N495K 1485C>A STAD-US 8 87454884 87454884 single base substitution C A missense_variant N625K 1875C>A STAD-US 8 87454932 87454932 single base substitution G A exon_variant STAD-US 8 87454932 87454932 single base substitution G A synonymous_variant L141L 423G>A STAD-US 8 87454932 87454932 single base substitution G A synonymous_variant L423L 1269G>A STAD-US 8 87454932 87454932 single base substitution G A synonymous_variant L511L 1533G>A STAD-US 8 87454932 87454932 single base substitution G A synonymous_variant L641L 1923G>A STAD-US 8 87455005 87455005 single base substitution A G missense_variant M166V 496A>G STAD-US 8 87455005 87455005 single base substitution A G missense_variant M448V 1342A>G STAD-US 8 87455005 87455005 single base substitution A G missense_variant M536V 1606A>G STAD-US 8 87455005 87455005 single base substitution A G missense_variant M666V 1996A>G STAD-US 8 87455005 87455005 single base substitution A G splice_region_variant STAD-US 8 87464854 87464854 single base substitution T C downstream_gene_variant STAD-US 8 87464854 87464854 single base substitution T C synonymous_variant F562F 1686T>C STAD-US 8 87464854 87464854 single base substitution T C synonymous_variant F650F 1950T>C STAD-US 8 87464854 87464854 single base substitution T C synonymous_variant F780F 2340T>C STAD-US 8 87470223 87470223 single base substitution G A exon_variant STAD-US 8 87470223 87470223 single base substitution G A missense_variant R605K 1814G>A STAD-US 8 87470223 87470223 single base substitution G A missense_variant R693K 2078G>A STAD-US 8 87470223 87470223 single base substitution G A missense_variant R823K 2468G>A STAD-US 8 87470223 87470223 single base substitution G A upstream_gene_variant STAD-US 8 87473498 87473498 single base substitution T C exon_variant STAD-US 8 87473498 87473498 single base substitution T C missense_variant F15L 43T>C STAD-US 8 87473498 87473498 single base substitution T C missense_variant F631L 1891T>C STAD-US 8 87473498 87473498 single base substitution T C missense_variant F719L 2155T>C STAD-US 8 87473498 87473498 single base substitution T C missense_variant F849L 2545T>C STAD-US 8 87473501 87473501 single base substitution G C exon_variant STAD-US 8 87473501 87473501 single base substitution G C missense_variant V16L 46G>C STAD-US 8 87473501 87473501 single base substitution G C missense_variant V632L 1894G>C STAD-US 8 87473501 87473501 single base substitution G C missense_variant V720L 2158G>C STAD-US 8 87473501 87473501 single base substitution G C missense_variant V850L 2548G>C STAD-US 8 87487047 87487047 single base substitution A G intron_variant STAD-US 8 87487103 87487105 deletion of <=200bp AGC - intron_variant STAD-US 8 87491204 87491204 single base substitution C T downstream_gene_variant UCEC-US 8 87393047 87393047 single base substitution A C exon_variant UCEC-US 8 87393047 87393047 single base substitution A C intron_variant UCEC-US 8 87393047 87393047 single base substitution A C missense_variant K55Q 163A>C UCEC-US 8 87393753 87393753 single base substitution A G exon_variant UCEC-US 8 87393753 87393753 single base substitution A G intron_variant UCEC-US 8 87393753 87393753 single base substitution A G missense_variant T77A 229A>G UCEC-US 8 87410585 87410585 single base substitution G T exon_variant UCEC-US 8 87410585 87410585 single base substitution G T intron_variant UCEC-US 8 87410585 87410585 single base substitution G T stop_gained E117* 349G>T UCEC-US 8 87414286 87414286 single base substitution T C intron_variant UCEC-US 8 87414286 87414286 single base substitution T C missense_variant V193A 578T>C UCEC-US 8 87414286 87414286 single base substitution T C upstream_gene_variant UCEC-US 8 87423902 87423902 single base substitution T C exon_variant UCEC-US 8 87423902 87423902 single base substitution T C missense_variant L157P 470T>C UCEC-US 8 87423902 87423902 single base substitution T C missense_variant L287P 860T>C UCEC-US 8 87423902 87423902 single base substitution T C missense_variant L69P 206T>C UCEC-US 8 87423953 87423957 deletion of <=200bp AATCT - exon_variant UCEC-US 8 87423953 87423957 deletion of <=200bp AATCT - frameshift_variant ES174 UCEC-US 8 87423953 87423957 deletion of <=200bp AATCT - frameshift_variant ES304 UCEC-US 8 87423953 87423957 deletion of <=200bp AATCT - frameshift_variant ES86 UCEC-US 8 87423968 87423968 single base substitution G T exon_variant UCEC-US 8 87423968 87423968 single base substitution G T missense_variant S179I 536G>T UCEC-US 8 87423968 87423968 single base substitution G T missense_variant S309I 926G>T UCEC-US 8 87423968 87423968 single base substitution G T missense_variant S91I 272G>T UCEC-US 8 87424036 87424036 single base substitution C A exon_variant UCEC-US 8 87424036 87424036 single base substitution C A missense_variant P114T 340C>A UCEC-US 8 87424036 87424036 single base substitution C A missense_variant P202T 604C>A UCEC-US 8 87424036 87424036 single base substitution C A missense_variant P332T 994C>A UCEC-US 8 87437463 87437463 single base substitution G T exon_variant UCEC-US 8 87437463 87437463 single base substitution G T missense_variant R140I 419G>T UCEC-US 8 87437463 87437463 single base substitution G T missense_variant R228I 683G>T UCEC-US 8 87437463 87437463 single base substitution G T missense_variant R358I 1073G>T UCEC-US 8 87437508 87437508 single base substitution G A exon_variant UCEC-US 8 87437508 87437508 single base substitution G A missense_variant R155Q 464G>A UCEC-US 8 87437508 87437508 single base substitution G A missense_variant R243Q 728G>A UCEC-US 8 87437508 87437508 single base substitution G A missense_variant R373Q 1118G>A UCEC-US 8 87439886 87439886 single base substitution T C exon_variant UCEC-US 8 87439886 87439886 single base substitution T C missense_variant V173A 518T>C UCEC-US 8 87439886 87439886 single base substitution T C missense_variant V261A 782T>C UCEC-US 8 87439886 87439886 single base substitution T C missense_variant V391A 1172T>C UCEC-US 8 87442975 87442975 single base substitution G A downstream_gene_variant UCEC-US 8 87442975 87442975 single base substitution G A exon_variant UCEC-US 8 87442975 87442975 single base substitution G A missense_variant G243D 728G>A UCEC-US 8 87442975 87442975 single base substitution G A missense_variant G331D 992G>A UCEC-US 8 87442975 87442975 single base substitution G A missense_variant G461D 1382G>A UCEC-US 8 87442975 87442975 single base substitution G A upstream_gene_variant UCEC-US 8 87443710 87443710 single base substitution G T downstream_gene_variant UCEC-US 8 87443710 87443710 single base substitution G T exon_variant UCEC-US 8 87443710 87443710 single base substitution G T missense_variant R270I 809G>T UCEC-US 8 87443710 87443710 single base substitution G T missense_variant R358I 1073G>T UCEC-US 8 87443710 87443710 single base substitution G T missense_variant R488I 1463G>T UCEC-US 8 87443710 87443710 single base substitution G T upstream_gene_variant UCEC-US 8 87443954 87443954 single base substitution G A downstream_gene_variant UCEC-US 8 87443954 87443954 single base substitution G A exon_variant UCEC-US 8 87443954 87443954 single base substitution G A missense_variant R310H 929G>A UCEC-US 8 87443954 87443954 single base substitution G A missense_variant R398H 1193G>A UCEC-US 8 87443954 87443954 single base substitution G A missense_variant R528H 1583G>A UCEC-US 8 87443954 87443954 single base substitution G A upstream_gene_variant UCEC-US 8 87447713 87447713 single base substitution G A downstream_gene_variant UCEC-US 8 87447713 87447713 single base substitution G A exon_variant UCEC-US 8 87447713 87447713 single base substitution G A missense_variant R327H 980G>A UCEC-US 8 87447713 87447713 single base substitution G A missense_variant R415H 1244G>A UCEC-US 8 87447713 87447713 single base substitution G A missense_variant R545H 1634G>A UCEC-US 8 87447713 87447713 single base substitution G A missense_variant R9H 26G>A UCEC-US 8 87447713 87447713 single base substitution G A upstream_gene_variant UCEC-US 8 87447886 87447886 single base substitution A C downstream_gene_variant UCEC-US 8 87447886 87447886 single base substitution A C exon_variant UCEC-US 8 87447886 87447886 single base substitution A C missense_variant K32Q 94A>C UCEC-US 8 87447886 87447886 single base substitution A C missense_variant K350Q 1048A>C UCEC-US 8 87447886 87447886 single base substitution A C missense_variant K438Q 1312A>C UCEC-US 8 87447886 87447886 single base substitution A C missense_variant K568Q 1702A>C UCEC-US 8 87450848 87450848 single base substitution G A exon_variant UCEC-US 8 87450848 87450848 single base substitution G A missense_variant R377H 1130G>A UCEC-US 8 87450848 87450848 single base substitution G A missense_variant R465H 1394G>A UCEC-US 8 87450848 87450848 single base substitution G A missense_variant R595H 1784G>A UCEC-US 8 87450848 87450848 single base substitution G A missense_variant R59H 176G>A UCEC-US 8 87450848 87450848 single base substitution G A upstream_gene_variant UCEC-US 8 87460401 87460401 single base substitution G A exon_variant UCEC-US 8 87460401 87460401 single base substitution G A missense_variant D175N 523G>A UCEC-US 8 87460401 87460401 single base substitution G A missense_variant D457N 1369G>A UCEC-US 8 87460401 87460401 single base substitution G A missense_variant D545N 1633G>A UCEC-US 8 87460401 87460401 single base substitution G A missense_variant D675N 2023G>A UCEC-US 8 87460686 87460686 single base substitution G A downstream_gene_variant UCEC-US 8 87460686 87460686 single base substitution G A exon_variant UCEC-US 8 87460686 87460686 single base substitution G A synonymous_variant L521L 1563G>A UCEC-US 8 87460686 87460686 single base substitution G A synonymous_variant L609L 1827G>A UCEC-US 8 87460686 87460686 single base substitution G A synonymous_variant L739L 2217G>A UCEC-US 8 87473462 87473462 single base substitution G T exon_variant UCEC-US 8 87473462 87473462 single base substitution G T stop_gained E3* 7G>T UCEC-US 8 87473462 87473462 single base substitution G T stop_gained E619* 1855G>T UCEC-US 8 87473462 87473462 single base substitution G T stop_gained E707* 2119G>T UCEC-US 8 87473462 87473462 single base substitution G T stop_gained E837* 2509G>T UCEC-US 8 87473500 87473500 single base substitution C T exon_variant UCEC-US 8 87473500 87473500 single base substitution C T synonymous_variant F15F 45C>T UCEC-US 8 87473500 87473500 single base substitution C T synonymous_variant F631F 1893C>T UCEC-US 8 87473500 87473500 single base substitution C T synonymous_variant F719F 2157C>T UCEC-US 8 87473500 87473500 single base substitution C T synonymous_variant F849F 2547C>T UCEC-US 8 87487150 87487150 single base substitution G T intron_variant UCEC-US 8 87492534 87492534 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AP-A051-01 COSM1102164 c.994C>A p.P332T Substitution - Missense 8:86411807-86411807 + T2417 COSM4741554 c.764C>T p.A255V Substitution - Missense 8:86411577-86411577 + C608 COSM4443099 c.1117C>T p.R373* Substitution - Nonsense 8:86425278-86425278 + Gp5D COSM2789685 c.2216T>C p.L739P Substitution - Missense 8:86448456-86448456 + TCGA-F4-6569-01 COSM5171482 c.439G>C p.E147Q Substitution - Missense 8:86398446-86398446 + TCGA-AC-A23H-01 COSM3835086 c.1549C>T p.H517Y Substitution - Missense 8:86431691-86431691 + ESCC_4 COSM5623007 c.584C>G p.T195R Substitution - Missense 8:86402063-86402063 + LUAD-B01811 COSM334879 c.1472+1G>A p.? Unknown 8:86431491-86431491 + TCGA-EE-A3JB-06 COSM4898478 c.2083G>A p.D695N Substitution - Missense 8:86448232-86448232 + TCGA-AN-A046-01 COSM1102165 c.1073G>T p.R358I Substitution - Missense 8:86425234-86425234 + TCGA-CM-5864-01 COSM1458465 c.264A>T p.L88F Substitution - Missense 8:86381559-86381559 + TCGA-D5-6540-01 COSM1458473 c.2242G>A p.V748M Substitution - Missense 8:86448482-86448482 + TCGA-AZ-6598-01 COSM1458467 c.1018C>T p.R340W Substitution - Missense 8:86411831-86411831 + TCGA-CD-A487-01 COSM3901863 c.2548G>C p.V850L Substitution - Missense 8:86461272-86461272 + EGC15 COSM2789699 c.2533C>T p.R845* Substitution - Nonsense 8:86461257-86461257 + TCGA-DK-A1A5-01 COSM422048 c.1188A>T p.R396S Substitution - Missense 8:86427673-86427673 + SC_9107 COSM5329784 c.283G>C p.G95R Substitution - Missense 8:86381578-86381578 + 2492730 COSM5728896 c.2544G>A p.Q848Q Substitution - coding silent 8:86461268-86461268 + TCGA-HE-A5NK-01 COSM4908513 c.919G>C p.A307P Substitution - Missense 8:86411732-86411732 + U251 COSM1673990 c.1243G>T p.E415* Substitution - Nonsense 8:86427728-86427728 + TCGA-A6-3810-01 COSM291442 c.830C>A p.T277N Substitution - Missense 8:86411643-86411643 + TCGA-BR-4184-01 COSM3901856 c.1720C>T p.Q574* Substitution - Nonsense 8:86435675-86435675 + Pat_45_B COSM5875071 c.422G>A p.G141E Substitution - Missense 8:86398429-86398429 + TCGA-CG-5730-01 COSM3901861 c.2468G>A p.R823K Substitution - Missense 8:86457994-86457994 + 9227_T COSM5039722 c.421G>A p.G141R Substitution - Missense 8:86398428-86398428 + TCGA-AP-A0LM-01 COSM1102165 c.1073G>T p.R358I Substitution - Missense 8:86425234-86425234 + TCGA-A6-6653-01 COSM1458466 c.293C>T p.T98M Substitution - Missense 8:86381588-86381588 + SC_9107 COSM5552271 c.139G>C p.D47H Substitution - Missense 8:86380794-86380794 + TCGA-AA-3489-01 COSM1458472 c.2179G>C p.D727H Substitution - Missense 8:86448419-86448419 + LPJ108 COSM1316328 c.2470A>G p.N824D Substitution - Missense 8:86457996-86457996 + TCGA-CG-4442-01 COSM3901851 c.152C>T p.T51M Substitution - Missense 8:86380807-86380807 + AA COSM5414931 c.644C>T p.S215L Substitution - Missense 8:86402123-86402123 + Pat_44_B COSM5875075 c.2596G>A p.G866R Substitution - Missense 8:86461320-86461320 + S0055 COSM5884742 c.1657C>T p.H553Y Substitution - Missense 8:86435507-86435507 + H COSM5414931 c.644C>T p.S215L Substitution - Missense 8:86402123-86402123 + SJOS006_D COSM5024215 c.2678G>C p.R893P Substitution - Missense 8:86466802-86466802 + ESOSCC164T COSM1173429 c.2453A>G p.Y818C Substitution - Missense 8:86457979-86457979 + T166 COSM307594 c.1797_1801delATTTA p.I599fs*7 Deletion - Frameshift 8:86438632-86438636 + TCGA-AX-A060-01 COSM1102162 c.911_915delAATCT p.E304fs*3 Deletion - Frameshift 8:86411724-86411728 + LUAD-S01331 COSM396646 c.223C>T p.Q75* Substitution - Nonsense 8:86381518-86381518 + 2492722 COSM5721226 c.965C>T p.S322F Substitution - Missense 8:86411778-86411778 + TCGA-AA-3715-01 COSM270560 c.219G>A p.T73T Substitution - coding silent 8:86381514-86381514 + 326_PT COSM5757258 c.1387G>A p.E463K Substitution - Missense 8:86430751-86430751 + HC7-1 COSM307314 c.1798T>G p.F600V Substitution - Missense 8:86438633-86438633 + TCGA-B5-A11E-01 COSM1102159 c.578T>C p.V193A Substitution - Missense 8:86402057-86402057 + HCT8 COSM2789691 c.2365C>A p.L789I Substitution - Missense 8:86452650-86452650 + 587224 COSM1232880 c.1279C>T p.R427W Substitution - Missense 8:86427764-86427764 + TCGA-EI-6917-01 COSM3432590 c.1523G>A p.R508H Substitution - Missense 8:86431665-86431665 + TCGA-HT-7873-01 COSM3929654 c.1443A>C p.T481T Substitution - coding silent 8:86431461-86431461 + T3535 COSM4741555 c.951T>C p.N317N Substitution - coding silent 8:86411764-86411764 + TCGA-BG-A0YV-01 COSM1102157 c.229A>G p.T77A Substitution - Missense 8:86381524-86381524 + LP6007523-DNA_A01 COSM5035772 c.1332G>A p.S444S Substitution - coding silent 8:86427817-86427817 + TCGA-HC-8266-01 COSM4392812 c.2455C>T p.R819* Substitution - Nonsense 8:86457981-86457981 + TCGA-AX-A0J0-01 COSM170354 c.1118G>A p.R373Q Substitution - Missense 8:86425279-86425279 + T3174 COSM2789685 c.2216T>C p.L739P Substitution - Missense 8:86448456-86448456 + TCGA-DM-A0XF-01 COSM1458462 c.25G>C p.D9H Substitution - Missense 8:86374075-86374075 + TCGA-EE-A2MR-06 COSM3651500 c.363T>A p.L121L Substitution - coding silent 8:86398370-86398370 + S00935 COSM316581 c.1200G>T p.V400V Substitution - coding silent 8:86427685-86427685 + TCGA-CA-6717-01 COSM1458470 c.1357G>T p.D453Y Substitution - Missense 8:86430721-86430721 + TCGA-F4-6570-01 COSM248363 c.4G>A p.A2T Substitution - Missense 8:86374054-86374054 + TCGA-D1-A17Q-01 COSM1102171 c.1702A>C p.K568Q Substitution - Missense 8:86435657-86435657 + MEL-JWCI-WGS-1 COSM1167530 c.2718delG p.E907fs*7 Deletion - Frameshift 8:86466842-86466842 + 255 COSM3732134 c.2030G>A p.G677D Substitution - Missense 8:86448179-86448179 + CHC1626T COSM4791645 c.232T>G p.L78V Substitution - Missense 8:86381527-86381527 + LIM2551 COSM316582 c.257G>A p.R86H Substitution - Missense 8:86381552-86381552 + RK035_C01 COSM1635887 c.1888T>A p.L630I Substitution - Missense 8:86442668-86442668 + TARGET-30-PARDYU COSM1288979 c.1985G>A p.R662H Substitution - Missense 8:86442765-86442765 + AOCS-090-1-0 COSM4151912 c.1951C>G p.P651A Substitution - Missense 8:86442731-86442731 + CSCC-27-T COSM4503844 c.649C>T p.P217S Substitution - Missense 8:86402128-86402128 + S02344 COSM5693868 c.1001G>C p.G334A Substitution - Missense 8:86411814-86411814 + LUAD-NYU669 COSM375902 c.1038C>T p.A346A Substitution - coding silent 8:86411851-86411851 + TCGA-AH-6903-01 COSM3432591 c.2336G>A p.G779D Substitution - Missense 8:86452621-86452621 + PTC-46C COSM4163100 c.1475T>G p.L492* Substitution - Nonsense 8:86431617-86431617 + TCGA-BR-8680-01 COSM1102156 c.163A>C p.K55Q Substitution - Missense 8:86380818-86380818 + LUAD-CHTN-3090415 COSM357424 c.354A>G p.Q118Q Substitution - coding silent 8:86398361-86398361 + TCGA-AP-A056-01 COSM1102176 c.2547C>T p.F849F Substitution - coding silent 8:86461271-86461271 + AOCS-086-1-5 COSM4151911 c.38A>G p.N13S Substitution - Missense 8:86374088-86374088 + RK001_C01 COSM307315 c.1228delC p.Q410fs*39 Deletion - Frameshift 8:86427713-86427713 + TCGA-BR-6452-01 COSM3901855 c.1472+1G>T p.? Unknown 8:86431491-86431491 + TCGA-D1-A17D-01 COSM1102174 c.2217G>A p.L739L Substitution - coding silent 8:86448457-86448457 + AOCS-086-3-2 COSM4151911 c.38A>G p.N13S Substitution - Missense 8:86374088-86374088 + SNU-C2B COSM2789641 c.315G>A p.L105L Substitution - coding silent 8:86381610-86381610 + CSCC-49-T COSM4453210 c.265A>G p.K89E Substitution - Missense 8:86381560-86381560 + TCGA-HU-A4HD-01 COSM3901860 c.2340T>C p.F780F Substitution - coding silent 8:86452625-86452625 + PD8964a COSM5782138 c.1844G>A p.W615* Substitution - Nonsense 8:86442624-86442624 + KM12 COSM2789655 c.810T>A p.S270S Substitution - coding silent 8:86411623-86411623 + Pat_59_B COSM5875070 c.361C>T p.L121F Substitution - Missense 8:86398368-86398368 + TCGA-CM-6674-01 COSM1458474 c.2291G>A p.R764H Substitution - Missense 8:86452576-86452576 + TCGA-B5-A11E-01 COSM1102170 c.1634G>A p.R545H Substitution - Missense 8:86435484-86435484 + YULOCUS COSM5409921 c.1342T>A p.L448I Substitution - Missense 8:86430706-86430706 + TCGA-FW-A3R5-06 COSM3651499 c.108C>T p.F36F Substitution - coding silent 8:86380763-86380763 + HCC162 COSM3663908 c.132A>T p.V44V Substitution - coding silent 8:86380787-86380787 + 16 COSM3735775 c.2207C>A p.S736* Substitution - Nonsense 8:86448447-86448447 + J54_T COSM3951998 c.844C>A p.P282T Substitution - Missense 8:86411657-86411657 + HCC22 COSM3663909 c.210-2A>G p.? Unknown 8:86381503-86381503 + CHEWS018 COSM2789698 c.2520T>C p.N840N Substitution - coding silent 8:86461244-86461244 + Pat_41_B COSM5875073 c.1124C>T p.T375I Substitution - Missense 8:86425285-86425285 + TCGA-CG-5733-01 COSM3901854 c.1057T>G p.S353A Substitution - Missense 8:86411870-86411870 + HC2 COSM307316 c.276_277insT p.L93fs*18 Insertion - Frameshift 8:86381571-86381572 + TCGA-D5-6530-01 COSM316582 c.257G>A p.R86H Substitution - Missense 8:86381552-86381552 + TCGA-BR-8680-01 COSM3901852 c.516G>A p.E172E Substitution - coding silent 8:86398615-86398615 + TCGA-EQ-A4SO-01 COSM3901857 c.1875C>A p.N625K Substitution - Missense 8:86442655-86442655 + C086 COSM5541815 c.841C>T p.P281S Substitution - Missense 8:86411654-86411654 + TCGA-FS-A1ZQ-06 COSM3651502 c.1184G>A p.R395K Substitution - Missense 8:86427669-86427669 + pfg122T COSM4747593 c.2725_2727delCTT p.L910delL Deletion - In frame 8:86466849-86466851 + U373 COSM1673990 c.1243G>T p.E415* Substitution - Nonsense 8:86427728-86427728 + TCGA-BP-4976-01 COSM486722 c.2313A>G p.E771E Substitution - coding silent 8:86452598-86452598 + TCGA-AA-A02W-01 COSM287598 c.1835C>T p.A612V Substitution - Missense 8:86438670-86438670 + TCGA-A8-A093-01 COSM454908 c.2008C>T p.H670Y Substitution - Missense 8:86448157-86448157 + HCC22T COSM3663909 c.210-2A>G p.? Unknown 8:86381503-86381503 + BD55T COSM5509432 c.1501G>A p.G501S Substitution - Missense 8:86431643-86431643 + C008 COSM5524209 c.241C>T p.Q81* Substitution - Nonsense 8:86381536-86381536 + TCGA-C8-A274-01 COSM1489457 c.1062-1G>A p.? Unknown 8:86425222-86425222 + 441 COSM4434549 c.947C>G p.S316C Substitution - Missense 8:86411760-86411760 + BD55T COSM5509431 c.1125C>G p.T375T Substitution - coding silent 8:86425286-86425286 + TCGA-D1-A101-01 COSM1102160 c.611G>A p.C204Y Substitution - Missense 8:86402090-86402090 + BN40 COSM3663910 c.685G>A p.A229T Substitution - Missense 8:86402164-86402164 + 2492723 COSM5721226 c.965C>T p.S322F Substitution - Missense 8:86411778-86411778 + 19M COSM5580008 c.650C>T p.P217L Substitution - Missense 8:86402129-86402129 + TCGA-B5-A0JY-01 COSM1102156 c.163A>C p.K55Q Substitution - Missense 8:86380818-86380818 + TCGA-AA-A010-01 COSM286551 c.1771G>T p.D591Y Substitution - Missense 8:86438606-86438606 + TCGA-CM-5864-01 COSM1458464 c.263T>A p.L88* Substitution - Nonsense 8:86381558-86381558 + P09-1372 COSM248363 c.4G>A p.A2T Substitution - Missense 8:86374054-86374054 + TCGA-GM-A2DO-01 COSM3835087 c.1960C>G p.L654V Substitution - Missense 8:86442740-86442740 + Pat_45_B COSM5875074 c.2490G>A p.W830* Substitution - Nonsense 8:86458016-86458016 + HB1 COSM307315 c.1228delC p.Q410fs*39 Deletion - Frameshift 8:86427713-86427713 + TCGA-BR-4184-01 COSM316582 c.257G>A p.R86H Substitution - Missense 8:86381552-86381552 + YUSCA COSM5409922 c.1739C>T p.S580F Substitution - Missense 8:86435694-86435694 + TCGA-CG-5728-01 COSM3901862 c.2545T>C p.F849L Substitution - Missense 8:86461269-86461269 + ESCC_149 COSM5644912 c.1883A>G p.Y628C Substitution - Missense 8:86442663-86442663 + CHC1626T COSM4791645 c.232T>G p.L78V Substitution - Missense 8:86381527-86381527 + sysucc-311T COSM5467505 c.1187G>T p.R396I Substitution - Missense 8:86427672-86427672 + TCGA-C8-A274-01 COSM1489459 c.2299C>T p.R767* Substitution - Nonsense 8:86452584-86452584 + TCGA-BS-A0UA-01 COSM1102172 c.1784G>A p.R595H Substitution - Missense 8:86438619-86438619 + Pat_76_B COSM5875069 c.179_180CT>TC p.S60F Substitution - Missense 8:86380834-86380835 + NYU587 COSM4771003 c.984A>C p.K328N Substitution - Missense 8:86411797-86411797 + TCGA-BS-A0UF-01 COSM1102175 c.2509G>T p.E837* Substitution - Nonsense 8:86461233-86461233 + YUROG COSM5409924 c.2089G>A p.E697K Substitution - Missense 8:86448238-86448238 + pfg122T COSM4758502 c.1840G>A p.E614K Substitution - Missense 8:86442620-86442620 + TCGA-D3-A5GU-06 COSM3651503 c.1247C>T p.S416F Substitution - Missense 8:86427732-86427732 + HCC77T COSM1624227 c.975A>T p.E325D Substitution - Missense 8:86411788-86411788 + 587222 COSM1232881 c.99G>T p.K33N Substitution - Missense 8:86380754-86380754 + S00936 COSM316582 c.257G>A p.R86H Substitution - Missense 8:86381552-86381552 + HCT15 COSM2789691 c.2365C>A p.L789I Substitution - Missense 8:86452650-86452650 + BCM671T COSM4955559 c.271G>A p.D91N Substitution - Missense 8:86381566-86381566 + S01366 COSM316583 c.1163A>G p.E388G Substitution - Missense 8:86427648-86427648 + C467 COSM4442257 c.249G>T p.W83C Substitution - Missense 8:86381544-86381544 + 587284 COSM1232882 c.1829G>A p.G610D Substitution - Missense 8:86438664-86438664 + BN40T COSM3663910 c.685G>A p.A229T Substitution - Missense 8:86402164-86402164 + TCGA-D1-A15X-01 COSM1102161 c.860T>C p.L287P Substitution - Missense 8:86411673-86411673 + TCGA-B0-4846-01 COSM3367415 c.1014T>C p.P338P Substitution - coding silent 8:86411827-86411827 + TCGA-BT-A2LB-01 COSM3779392 c.1366G>T p.G456* Substitution - Nonsense 8:86430730-86430730 + RK046_C01 COSM307314 c.1798T>G p.F600V Substitution - Missense 8:86438633-86438633 + S02093 COSM5673288 c.290C>T p.A97V Substitution - Missense 8:86381585-86381585 + TCGA-66-2787-01 COSM751572 c.896C>G p.T299S Substitution - Missense 8:86411709-86411709 + 103591 COSM95537 c.2098G>A p.D700N Substitution - Missense 8:86448247-86448247 + 470 COSM4437748 c.153G>A p.T51T Substitution - coding silent 8:86380808-86380808 + TCGA-AA-A00N-01 COSM278149 c.268G>A p.A90T Substitution - Missense 8:86381563-86381563 + SC_9107 COSM5555414 c.110G>A p.G37E Substitution - Missense 8:86380765-86380765 + TCGA-BR-8680-01 COSM3901853 c.979G>A p.A327T Substitution - Missense 8:86411792-86411792 + 1428_T COSM3952001 c.1413G>T p.R471S Substitution - Missense 8:86431431-86431431 + TCGA-F5-6814-01 COSM3432589 c.1342T>C p.L448L Substitution - coding silent 8:86430706-86430706 + AB COSM5414931 c.644C>T p.S215L Substitution - Missense 8:86402123-86402123 + HCC77 COSM1624227 c.975A>T p.E325D Substitution - Missense 8:86411788-86411788 + TCGA-B6-A1KF-01 COSM1489458 c.2133A>G p.R711R Substitution - coding silent 8:86448373-86448373 + TCGA-06-0192 COSM2150642 c.708G>C p.E236D Substitution - Missense 8:86402187-86402187 + TCGA-EB-A3Y7-01 COSM3651499 c.108C>T p.F36F Substitution - coding silent 8:86380763-86380763 + 417 COSM4431782 c.179C>G p.S60C Substitution - Missense 8:86380834-86380834 + WSU-HN8 COSM4602566 c.2701A>G p.S901G Substitution - Missense 8:86466825-86466825 + Pat_76_A COSM5875069 c.179_180CT>TC p.S60F Substitution - Missense 8:86380834-86380835 + 587234 COSM1232883 c.1180C>T p.R394C Substitution - Missense 8:86427665-86427665 + HCC162T COSM3663908 c.132A>T p.V44V Substitution - coding silent 8:86380787-86380787 + SNB19 COSM1673990 c.1243G>T p.E415* Substitution - Nonsense 8:86427728-86427728 + HCC2998 COSM170354 c.1118G>A p.R373Q Substitution - Missense 8:86425279-86425279 + TCGA-F9-A4JJ-01 COSM1102169 c.1583G>A p.R528H Substitution - Missense 8:86431725-86431725 + S00935 COSM316581 c.1200G>T p.V400V Substitution - coding silent 8:86427685-86427685 + 2492721 COSM5721226 c.965C>T p.S322F Substitution - Missense 8:86411778-86411778 + 2492720 COSM5721226 c.965C>T p.S322F Substitution - Missense 8:86411778-86411778 + HCC127T COSM5822816 c.2182A>G p.M728V Substitution - Missense 8:86448422-86448422 + RK003_C01 COSM1635885 c.275_276insT p.L93fs*18 Insertion - Frameshift 8:86381570-86381571 + T3088 COSM4741553 c.299A>T p.D100V Substitution - Missense 8:86381594-86381594 + ESCC_BICR_069T COSM5444764 c.706G>T p.E236* Substitution - Nonsense 8:86402185-86402185 + P161 COSM1737777 c.1981G>A p.G661S Substitution - Missense 8:86442761-86442761 + 0067_CRUK_PC_0067_T1_DNA COSM4421078 c.726T>A p.V242V Substitution - coding silent 8:86411539-86411539 + TCGA-AA-3821-01 COSM294955 c.2503G>A p.V835M Substitution - Missense 8:86461227-86461227 + TCGA-WS-AB45-01 COSM5191841 c.1633C>T p.R545C Substitution - Missense 8:86435483-86435483 + YUFOLD COSM1700311 c.806T>G p.L269W Substitution - Missense 8:86411619-86411619 + TCGA-AP-A051-01 COSM1102163 c.926G>T p.S309I Substitution - Missense 8:86411739-86411739 + TCGA-D1-A15X-01 COSM1102166 c.1172T>C p.V391A Substitution - Missense 8:86427657-86427657 + TCGA-AX-A05Z-01 COSM1102173 c.2023G>A p.D675N Substitution - Missense 8:86448172-86448172 + YUBER COSM1700310 c.614C>T p.S205L Substitution - Missense 8:86402093-86402093 + TCGA-22-4613-01 COSM751571 c.1061+1G>T p.? Unknown 8:86411875-86411875 + 0067_CRUK_PC_0067_T1_DNA COSM4421054 c.744A>C p.S248S Substitution - coding silent 8:86411557-86411557 + PD11326a COSM5789742 c.1689A>C p.L563L Substitution - coding silent 8:86435644-86435644 + T2284 COSM316582 c.257G>A p.R86H Substitution - Missense 8:86381552-86381552 + CHEWS007 COSM4588235 c.2358T>C p.L786L Substitution - coding silent 8:86452643-86452643 + TCGA-D1-A17Q-01 COSM1102167 c.1382G>A p.G461D Substitution - Missense 8:86430746-86430746 + 202_T COSM3952000 c.1243G>A p.E415K Substitution - Missense 8:86427728-86427728 + TCGA-AZ-4615-01 COSM3699193 c.1037C>T p.A346V Substitution - Missense 8:86411850-86411850 + TCGA-D3-A51T-06 COSM3651501 c.1049C>T p.T350I Substitution - Missense 8:86411862-86411862 + GC_342T_a-GC_342N COSM4771909 c.1635C>T p.R545R Substitution - coding silent 8:86435485-86435485 + HT115 COSM2789680 c.2034C>A p.F678L Substitution - Missense 8:86448183-86448183 + S01366 COSM316583 c.1163A>G p.E388G Substitution - Missense 8:86427648-86427648 + TCGA-CK-4951-01 COSM5146291 c.1388delA p.R465fs*11 Deletion - Frameshift 8:86431406-86431406 + TCGA-AD-6964-01 COSM1458463 c.214G>A p.V72I Substitution - Missense 8:86381509-86381509 + ATL019 COSM5711035 c.212A>G p.N71S Substitution - Missense 8:86381507-86381507 + UM-SCC-17B COSM4599165 c.1257T>G p.N419K Substitution - Missense 8:86427742-86427742 + 01-P8014 COSM4588234 c.178T>G p.S60A Substitution - Missense 8:86380833-86380833 + YUVEME COSM5409923 c.1952C>T p.P651L Substitution - Missense 8:86442732-86442732 + TCGA-B5-A11E-01 COSM1102169 c.1583G>A p.R528H Substitution - Missense 8:86431725-86431725 + 205T COSM1726858 c.2456G>C p.R819P Substitution - Missense 8:86457982-86457982 + DLD1 COSM2789691 c.2365C>A p.L789I Substitution - Missense 8:86452650-86452650 + Gp2D COSM2789685 c.2216T>C p.L739P Substitution - Missense 8:86448456-86448456 + TCGA-AX-A0J0-01 COSM1102168 c.1463G>T p.R488I Substitution - Missense 8:86431481-86431481 + PD6722a COSM5802452 c.2137_2139delAAC p.N714delN Deletion - In frame 8:86448377-86448379 + TCGA-85-6560-01 COSM751573 c.803C>T p.A268V Substitution - Missense 8:86411616-86411616 + PR-00-1165 COSM248362 c.1331C>T p.S444L Substitution - Missense 8:86427816-86427816 + TCGA-AG-A002-01 COSM264714 c.1790A>G p.Y597C Substitution - Missense 8:86438625-86438625 + HT115 COSM2789694 c.2456G>A p.R819Q Substitution - Missense 8:86457982-86457982 + PD6749a COSM1637657 c.464C>T p.S155F Substitution - Missense 8:86398471-86398471 + LPJ108 COSM1316327 c.2468G>C p.R823T Substitution - Missense 8:86457994-86457994 + LUAD-S01373 COSM388179 c.1100A>T p.Y367F Substitution - Missense 8:86425261-86425261 + TCGA-A6-5661-01 COSM1458469 c.1280G>A p.R427Q Substitution - Missense 8:86427765-86427765 + BK0098 COSM4189010 c.2167_2182del16 p.Y723fs*12 Deletion - Frameshift 8:86448407-86448422 + Pat_51_A COSM5875072 c.599A>G p.Q200R Substitution - Missense 8:86402078-86402078 + TCGA-AP-A056-01 COSM1102158 c.349G>T p.E117* Substitution - Nonsense 8:86398356-86398356 + PDA_071 COSM5001745 c.2351T>C p.V784A Substitution - Missense 8:86452636-86452636 + T3535 COSM4741556 c.1431T>C p.H477H Substitution - coding silent 8:86431449-86431449 + sysucc-1397T COSM1288979 c.1985G>A p.R662H Substitution - Missense 8:86442765-86442765 + TCGA-CD-A4MJ-01 COSM3901858 c.1923G>A p.L641L Substitution - coding silent 8:86442703-86442703 + SC_9047 COSM5573291 c.1998+2T>C p.? Unknown 8:86442780-86442780 + 202_T COSM3951999 c.1242G>T p.M414I Substitution - Missense 8:86427727-86427727 + BCM671T COSM4955559 c.271G>A p.D91N Substitution - Missense 8:86381566-86381566 + BD124T COSM5492399 c.71-10_71-7delTGTC p.? Unknown 8:86380716-86380719 + TCGA-AZ-4315-01 COSM1458471 c.2149G>T p.E717* Substitution - Nonsense 8:86448389-86448389 + TCGA-HU-A4HD-01 COSM3901859 c.1996A>G p.M666V Substitution - Missense 8:86442776-86442776 + YUDUTY COSM1700309 c.590C>T p.T197I Substitution - Missense 8:86402069-86402069 + RK098_C01 COSM1635886 c.782C>T p.P261L Substitution - Missense 8:86411595-86411595 + TCGA-EJ-8474-01 COSM3784173 c.816T>G p.N272K Substitution - Missense 8:86411629-86411629 + S02234 COSM1102157 c.229A>G p.T77A Substitution - Missense 8:86381524-86381524 + LUAD-NYU1101 COSM369367 c.751C>G p.P251A Substitution - Missense 8:86411564-86411564 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.655185;Hs.655186;Hs.655187;Hs.655188;Hs.655189 8q21 602307 2415936|CGAP|BC036065|C/T|non-coding||3740|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AATCT - Frameshift p.E304Gfs*3 c.911_915delAATCT 8 87423953 UCEC - A Frameshift p.M804Nfs*5 c.2410dupA 8 87470165 HNSC A G Missense p.E388G c.1163A>G 8 87439877 SCLC A G Missense p.T77A c.229A>G 8 87393753 UCEC A G Missense p.Y628C c.1883A>G 8 87454892 HNSC A G Synonymous p.A234A c.702A>G 8 87414410 HNSC A G Synonymous p.A301A c.903A>G 8 87423945 HNSC A G Synonymous p.E771E c.2313A>G 8 87464827 RCCC A G Synonymous p.P352P c.1056A>G 8 87424098 LUAD A G Synonymous p.R711R c.2133A>G 8 87460602 BRCA A T IntronicSNV . c.209+37A>T 8 87393130 NSCLC A T Missense p.R396S c.1188A>T 8 87439902 BLCA C A Missense p.T277N c.830C>A 8 87423872 COREAD CC TT Missense p.P62L c.184_185delinsTT 8 87393068 CM C - Frameshift p.W409Cfs*40 c.1227delG 8 87439941 HC C G Missense p.T299S c.896C>G 8 87423938 LUSC C T Missense p.A268V c.803C>T 8 87423845 LUSC C T Missense p.A612V c.1835C>T 8 87450899 COREAD C T Missense p.H670Y c.2008C>T 8 87460386 BRCA C T Missense p.P261L c.782C>T 8 87423824 HC C T Nonsense p.R767* c.2299C>T 8 87464813 BRCA G A IntronicSNV . c.1158-207G>A 8 87439665 CLL G A Missense p.D695N c.2083G>A 8 87460461 CM G A Missense p.E291K c.871G>A 8 87423913 LUAD G A Missense p.R395K c.1184G>A 8 87439898 CM G A Missense p.R595H c.1784G>A 8 87450848 UCEC G A Missense p.R662H c.1985G>A 8 87454994 NB G A Missense p.R823K c.2468G>A 8 87470223 STAD G A Missense p.R86H c.257G>A 8 87393781 SCLC G A SpliceAcceptorSNV . c.1062-1G>A 8 87437451 BRCA G A Synonymous p.L739L c.2217G>A 8 87460686 UCEC G C Missense p.R505T c.1514G>C 8 87443885 THCA G - Frameshift p.E907Kfs*7 c.2719delG 8 87479071 CM G T Nonsense p.G456* c.1366G>T 8 87442959 BLCA G T SpliceDonorSNV . c.1061+1G>T 8 87424104 LUSC G T Synonymous p.V400V c.1200G>T 8 87439914 SCLC T A Missense p.L630I c.1888T>A 8 87454897 HC T A Missense p.L691H c.2072T>A 8 87460450 HNSC T C Missense p.F849L c.2545T>C 8 87473498 STAD T C Synonymous p.P338P c.1014T>C 8 87424056 RCCC - T Frameshift p.L93Ffs*18 c.278dupT 8 87393800 HC T G Missense p.F600V c.1798T>G 8 87450862 HC T G Missense p.N272K c.816T>G 8 87423858 PRAD T G Missense p.S353A c.1057T>G 8 87424099 STAD - T IntronicInsertion . c.1061+835dupT 8 87424929 CM