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 3 167218046 167218046 + Missense_Mutation SNP G G A TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr3:167218046G>A c.1870C>T c.(1870-1872)Cct>Tct p.P624S BLCA 3 167196776 167196776 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 g.chr3:167196776C>G c.1984G>C c.(1984-1986)Gct>Cct p.A662P BLCA 3 167218047 167218047 + Silent SNP C C A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 g.chr3:167218047C>A c.1869G>T c.(1867-1869)ctG>ctT p.L623L BLCA 3 167245664 167245664 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 g.chr3:167245664C>T c.1492G>A c.(1492-1494)Gac>Aac p.D498N BLCA 3 167248966 167248966 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 g.chr3:167248966C>T c.1099G>A c.(1099-1101)Gag>Aag p.E367K BLCA 3 167249008 167249008 + Missense_Mutation SNP C C G TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 g.chr3:167249008C>G c.1057G>C c.(1057-1059)Gac>Cac p.D353H BLCA 3 167250742 167250742 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr3:167250742G>A c.922C>T c.(922-924)Cta>Tta p.L308L BLCA 3 167254660 167254660 + Missense_Mutation SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 g.chr3:167254660G>A c.896C>T c.(895-897)aCg>aTg p.T299M BLCA 3 167254787 167254787 + Splice_Site SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr3:167254787C>T c.769G>A c.(769-771)Gct>Act p.A257T BLCA 3 167277882 167277882 + Silent SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 g.chr3:167277882A>G c.621T>C c.(619-621)ctT>ctC p.L207L BLCA 3 167293719 167293719 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 g.chr3:167293719G>C c.473C>G c.(472-474)tCt>tGt p.S158C BLCA 3 167293808 167293808 + Frame_Shift_Del DEL A A - TCGA-K4-A6FZ-01A-11D-A31L-08 TCGA-K4-A6FZ-10A-01D-A31J-08 g.chr3:167293808delA c.384delT c.(382-384)aatfs p.N129fs BLCA 3 167293820 167293820 + Missense_Mutation SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr3:167293820G>T c.372C>A c.(370-372)ttC>ttA p.F124L BRCA 3 167217996 167217996 + Frame_Shift_Del DEL C C - TCGA-AR-A251-01A-12D-A167-09 TCGA-AR-A251-10A-01D-A167-09 g.chr3:167217996delC c.1920delG c.(1918-1920)aggfs p.R640fs BRCA 3 167223187 167223187 + Missense_Mutation SNP T T C TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 g.chr3:167223187T>C c.1736A>G c.(1735-1737)gAt>gGt p.D579G BRCA 3 167250737 167250737 + Missense_Mutation SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chr3:167250737C>A c.927G>T c.(925-927)tgG>tgT p.W309C BRCA 3 167277883 167277883 + Missense_Mutation SNP A A C TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr3:167277883A>C c.620T>G c.(619-621)cTt>cGt p.L207R BRCA 3 167277905 167277905 + Frame_Shift_Del DEL G G - TCGA-BH-A0AW-01A-11W-A071-09 TCGA-BH-A0AW-10A-01W-A071-09 g.chr3:167277905delG c.598delC c.(598-600)cttfs p.L200fs BRCA 3 167293918 167293918 + Nonsense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr3:167293918G>A c.274C>T c.(274-276)Caa>Taa p.Q92* BRCA 3 167320043 167320043 + Missense_Mutation SNP T T G TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 g.chr3:167320043T>G c.124A>C c.(124-126)Aaa>Caa p.K42Q CESC 3 167196719 167196719 + Missense_Mutation SNP C C A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 g.chr3:167196719C>A c.2041G>T c.(2041-2043)Gcc>Tcc p.A681S CESC 3 167217980 167217980 + Missense_Mutation SNP C C G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 g.chr3:167217980C>G c.1936G>C c.(1936-1938)Gag>Cag p.E646Q CESC 3 167293737 167293737 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 g.chr3:167293737G>A c.455C>T c.(454-456)aCt>aTt p.T152I COAD 3 167196703 167196703 + Missense_Mutation SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:167196703T>C c.2057A>G c.(2056-2058)cAa>cGa p.Q686R COAD 3 167196711 167196711 + Missense_Mutation SNP T T G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:167196711T>G c.2049A>C c.(2047-2049)caA>caC p.Q683H COAD 3 167217955 167217955 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr3:167217955G>A c.1961C>T c.(1960-1962)cCg>cTg p.P654L COAD 3 167218008 167218008 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:167218008C>A c.1908G>T c.(1906-1908)gaG>gaT p.E636D COAD 3 167218064 167218064 + Nonsense_Mutation SNP C C A TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr3:167218064C>A c.1852G>T c.(1852-1854)Gga>Tga p.G618* COAD 3 167223102 167223102 + Frame_Shift_Del DEL T T - TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr3:167223102delT c.1821delA c.(1819-1821)aaafs p.K607fs COAD 3 167223102 167223102 + Frame_Shift_Del DEL T T - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:167223102delT c.1821delA c.(1819-1821)aaafs p.K607fs COAD 3 167223102 167223102 + Frame_Shift_Del DEL T T - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr3:167223102delT c.1821delA c.(1819-1821)aaafs p.K607fs COAD 3 167223188 167223188 + Missense_Mutation SNP C C A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:167223188C>A c.1735G>T c.(1735-1737)Gat>Tat p.D579Y COAD 3 167245667 167245667 + Missense_Mutation SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr3:167245667C>T c.1489G>A c.(1489-1491)Gca>Aca p.A497T COAD 3 167246966 167246966 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:167246966C>A c.1224G>T c.(1222-1224)aaG>aaT p.K408N COAD 3 167247001 167247001 + Nonsense_Mutation SNP C C A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:167247001C>A c.1189G>T c.(1189-1191)Gga>Tga p.G397* COAD 3 167249045 167249046 + In_Frame_Ins INS - - AGA TCGA-AA-A029-01A-01W-A00E-09 TCGA-AA-A029-10A-01W-A00E-09 g.chr3:167249045_167249046insAGA c.1019_1020insTCT c.(1018-1020)ctc>ctTCTc p.340_340L>LL COAD 3 167250749 167250749 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:167250749T>G c.915A>C c.(913-915)gaA>gaC p.E305D COAD 3 167254660 167254660 + Missense_Mutation SNP G G A TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr3:167254660G>A c.896C>T c.(895-897)aCg>aTg p.T299M COAD 3 167254677 167254677 + Silent SNP A A G TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr3:167254677A>G c.879T>C c.(877-879)ccT>ccC p.P293P COAD 3 167254677 167254677 + Silent SNP A A T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr3:167254677A>T c.879T>A c.(877-879)ccT>ccA p.P293P COAD 3 167254729 167254729 + Missense_Mutation SNP C C A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr3:167254729C>A c.827G>T c.(826-828)tGg>tTg p.W276L COAD 3 167277908 167277908 + Missense_Mutation SNP C C T TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr3:167277908C>T c.595G>A c.(595-597)Gcc>Acc p.A199T COAD 3 167277926 167277926 + Missense_Mutation SNP C C T TCGA-F4-6855-01A-11D-1924-10 TCGA-F4-6855-10A-01D-1924-10 g.chr3:167277926C>T c.577G>A c.(577-579)Gca>Aca p.A193T COAD 3 167277927 167277927 + Silent SNP G G A TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr3:167277927G>A c.576C>T c.(574-576)aaC>aaT p.N192N COAD 3 167277927 167277927 + Silent SNP G G A TCGA-F4-6805-01A-11D-1835-10 TCGA-F4-6805-10A-01D-1835-10 g.chr3:167277927G>A c.576C>T c.(574-576)aaC>aaT p.N192N COAD 3 167277990 167277990 + Silent SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr3:167277990A>G c.513T>C c.(511-513)acT>acC p.T171T COAD 3 167293907 167293907 + Silent SNP C C T TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr3:167293907C>T c.285G>A c.(283-285)ctG>ctA p.L95L COAD 3 167319914 167319914 + Splice_Site SNP C C T TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr3:167319914C>T c.e3+1 COAD 3 167322116 167322116 + Missense_Mutation SNP C C A TCGA-CM-5863-01A-21D-1835-10 TCGA-CM-5863-10A-01D-1835-10 g.chr3:167322116C>A c.76G>T c.(76-78)Gat>Tat p.D26Y COAD 3 167322130 167322130 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:167322130C>T c.62G>A c.(61-63)gGc>gAc p.G21D COAD 3 167322162 167322162 + Silent SNP A A G TCGA-DM-A0X9-01A-11D-A152-10 TCGA-DM-A0X9-10A-01D-A152-10 g.chr3:167322162A>G c.30T>C c.(28-30)cgT>cgC p.R10R COAD 3 167322172 167322172 + Missense_Mutation SNP G G A TCGA-AA-3831-01A-01W-0900-09 TCGA-AA-3831-10A-01W-0900-09 g.chr3:167322172G>A c.20C>T c.(19-21)tCa>tTa p.S7L COAD 3 167322177 167322177 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:167322177C>A c.15G>T c.(13-15)gaG>gaT p.E5D COADREAD 3 167196703 167196703 + Missense_Mutation SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:167196703T>C c.2057A>G c.(2056-2058)cAa>cGa p.Q686R COADREAD 3 167196711 167196711 + Missense_Mutation SNP T T G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:167196711T>G c.2049A>C c.(2047-2049)caA>caC p.Q683H COADREAD 3 167217955 167217955 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr3:167217955G>A c.1961C>T c.(1960-1962)cCg>cTg p.P654L COADREAD 3 167218008 167218008 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:167218008C>A c.1908G>T c.(1906-1908)gaG>gaT p.E636D COADREAD 3 167218064 167218064 + Nonsense_Mutation SNP C C A TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr3:167218064C>A c.1852G>T c.(1852-1854)Gga>Tga p.G618* COADREAD 3 167223102 167223102 + Frame_Shift_Del DEL T T - TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr3:167223102delT c.1821delA c.(1819-1821)aaafs p.K607fs COADREAD 3 167223102 167223102 + Frame_Shift_Del DEL T T - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:167223102delT c.1821delA c.(1819-1821)aaafs p.K607fs COADREAD 3 167223102 167223102 + Frame_Shift_Del DEL T T - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr3:167223102delT c.1821delA c.(1819-1821)aaafs p.K607fs COADREAD 3 167223188 167223188 + Missense_Mutation SNP C C A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:167223188C>A c.1735G>T c.(1735-1737)Gat>Tat p.D579Y COADREAD 3 167245667 167245667 + Missense_Mutation SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr3:167245667C>T c.1489G>A c.(1489-1491)Gca>Aca p.A497T COADREAD 3 167245795 167245795 + Missense_Mutation SNP A A C TCGA-AH-6643-01A-11D-1826-10 TCGA-AH-6643-11A-01D-1826-10 g.chr3:167245795A>C c.1361T>G c.(1360-1362)cTt>cGt p.L454R COADREAD 3 167246966 167246966 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:167246966C>A c.1224G>T c.(1222-1224)aaG>aaT p.K408N COADREAD 3 167247001 167247001 + Nonsense_Mutation SNP C C A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:167247001C>A c.1189G>T c.(1189-1191)Gga>Tga p.G397* COADREAD 3 167248970 167248970 + Silent SNP G G A TCGA-AF-6136-01A-11D-1826-10 TCGA-AF-6136-10A-01D-1826-10 g.chr3:167248970G>A c.1095C>T c.(1093-1095)gaC>gaT p.D365D COADREAD 3 167249045 167249046 + In_Frame_Ins INS - - AGA TCGA-AA-A029-01A-01W-A00E-09 TCGA-AA-A029-10A-01W-A00E-09 g.chr3:167249045_167249046insAGA c.1019_1020insTCT c.(1018-1020)ctc>ctTCTc p.340_340L>LL COADREAD 3 167250749 167250749 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:167250749T>G c.915A>C c.(913-915)gaA>gaC p.E305D COADREAD 3 167254660 167254660 + Missense_Mutation SNP G G A TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr3:167254660G>A c.896C>T c.(895-897)aCg>aTg p.T299M COADREAD 3 167254677 167254677 + Silent SNP A A G TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr3:167254677A>G c.879T>C c.(877-879)ccT>ccC p.P293P COADREAD 3 167254677 167254677 + Silent SNP A A T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr3:167254677A>T c.879T>A c.(877-879)ccT>ccA p.P293P COADREAD 3 167254729 167254729 + Missense_Mutation SNP C C A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr3:167254729C>A c.827G>T c.(826-828)tGg>tTg p.W276L COADREAD 3 167277908 167277908 + Missense_Mutation SNP C C T TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr3:167277908C>T c.595G>A c.(595-597)Gcc>Acc p.A199T COADREAD 3 167277926 167277926 + Missense_Mutation SNP C C T TCGA-F4-6855-01A-11D-1924-10 TCGA-F4-6855-10A-01D-1924-10 g.chr3:167277926C>T c.577G>A c.(577-579)Gca>Aca p.A193T COADREAD 3 167277927 167277927 + Silent SNP G G A TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr3:167277927G>A c.576C>T c.(574-576)aaC>aaT p.N192N COADREAD 3 167277927 167277927 + Silent SNP G G A TCGA-F4-6805-01A-11D-1835-10 TCGA-F4-6805-10A-01D-1835-10 g.chr3:167277927G>A c.576C>T c.(574-576)aaC>aaT p.N192N COADREAD 3 167277990 167277990 + Silent SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr3:167277990A>G c.513T>C c.(511-513)acT>acC p.T171T COADREAD 3 167293907 167293907 + Silent SNP C C T TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr3:167293907C>T c.285G>A c.(283-285)ctG>ctA p.L95L COADREAD 3 167293922 167293922 + Silent SNP A A G TCGA-AG-3896-01A-01W-1073-09 TCGA-AG-3896-10A-01W-1073-09 g.chr3:167293922A>G c.270T>C c.(268-270)gaT>gaC p.D90D COADREAD 3 167319914 167319914 + Splice_Site SNP C C T TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr3:167319914C>T c.e3+1 COADREAD 3 167322116 167322116 + Missense_Mutation SNP C C A TCGA-CM-5863-01A-21D-1835-10 TCGA-CM-5863-10A-01D-1835-10 g.chr3:167322116C>A c.76G>T c.(76-78)Gat>Tat p.D26Y COADREAD 3 167322130 167322130 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:167322130C>T c.62G>A c.(61-63)gGc>gAc p.G21D COADREAD 3 167322162 167322162 + Silent SNP A A G TCGA-DC-6160-01A-11D-1657-10 TCGA-DC-6160-10A-01D-1657-10 g.chr3:167322162A>G c.30T>C c.(28-30)cgT>cgC p.R10R COADREAD 3 167322162 167322162 + Silent SNP A A G TCGA-DM-A0X9-01A-11D-A152-10 TCGA-DM-A0X9-10A-01D-A152-10 g.chr3:167322162A>G c.30T>C c.(28-30)cgT>cgC p.R10R COADREAD 3 167322172 167322172 + Missense_Mutation SNP G G A TCGA-AA-3831-01A-01W-0900-09 TCGA-AA-3831-10A-01W-0900-09 g.chr3:167322172G>A c.20C>T c.(19-21)tCa>tTa p.S7L COADREAD 3 167322177 167322177 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:167322177C>A c.15G>T c.(13-15)gaG>gaT p.E5D DLBC 3 167217971 167217971 + Missense_Mutation SNP G G T TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr3:167217971G>T c.1945C>A c.(1945-1947)Caa>Aaa p.Q649K DLBC 3 167240215 167240215 + Missense_Mutation SNP C C T TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr3:167240215C>T c.1606G>A c.(1606-1608)Gtg>Atg p.V536M ESCA 3 167320043 167320043 + Missense_Mutation SNP T T C TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 g.chr3:167320043T>C c.124A>G c.(124-126)Aaa>Gaa p.K42E GBMLGG 3 167223186 167223186 + Missense_Mutation SNP A A T TCGA-E1-5322-01A-01D-1468-08 TCGA-E1-5322-10A-01D-1468-08 g.chr3:167223186A>T c.1737T>A c.(1735-1737)gaT>gaA p.D579E GBMLGG 3 167245662 167245662 + Missense_Mutation SNP G G C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:167245662G>C c.1494C>G c.(1492-1494)gaC>gaG p.D498E GBMLGG 3 167245747 167245747 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:167245747G>A c.1409C>T c.(1408-1410)tCa>tTa p.S470L GBMLGG 3 167246909 167246909 + Silent SNP A A G TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 g.chr3:167246909A>G c.1281T>C c.(1279-1281)tcT>tcC p.S427S GBMLGG 3 167248987 167248987 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:167248987G>A c.1078C>T c.(1078-1080)Cgc>Tgc p.R360C GBMLGG 3 167322149 167322149 + Missense_Mutation SNP A A G TCGA-E1-A7YU-01A-11D-A34J-08 TCGA-E1-A7YU-10A-01D-A34M-08 g.chr3:167322149A>G c.43T>C c.(43-45)Tcc>Ccc p.S15P HNSC 3 167196746 167196746 + Missense_Mutation SNP T T G TCGA-CV-7245-01A-11D-2012-08 TCGA-CV-7245-10A-01D-2013-08 g.chr3:167196746T>G c.2014A>C c.(2014-2016)Aag>Cag p.K672Q HNSC 3 167223119 167223119 + Missense_Mutation SNP C C T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 g.chr3:167223119C>T c.1804G>A c.(1804-1806)Ggt>Agt p.G602S HNSC 3 167240158 167240158 + Missense_Mutation SNP C C T TCGA-QK-A652-01A-11D-A30E-08 TCGA-QK-A652-10A-01D-A30H-08 g.chr3:167240158C>T c.1663G>A c.(1663-1665)Gac>Aac p.D555N HNSC 3 167240192 167240192 + Silent SNP T T C TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 g.chr3:167240192T>C c.1629A>G c.(1627-1629)gaA>gaG p.E543E HNSC 3 167240197 167240197 + Nonsense_Mutation SNP T T A TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 g.chr3:167240197T>A c.1624A>T c.(1624-1626)Aag>Tag p.K542* HNSC 3 167248966 167248966 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 g.chr3:167248966C>G c.1099G>C c.(1099-1101)Gag>Cag p.E367Q HNSC 3 167250747 167250747 + Missense_Mutation SNP A A T TCGA-CV-7245-01A-11D-2012-08 TCGA-CV-7245-10A-01D-2013-08 g.chr3:167250747A>T c.917T>A c.(916-918)aTt>aAt p.I306N HNSC 3 167272550 167272550 + Missense_Mutation SNP T T A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 g.chr3:167272550T>A c.688A>T c.(688-690)Aat>Tat p.N230Y HNSC 3 167272580 167272580 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 g.chr3:167272580C>T c.658G>A c.(658-660)Gac>Aac p.D220N HNSC 3 167278004 167278004 + Missense_Mutation SNP C C G TCGA-KU-A66S-01A-21D-A30E-08 TCGA-KU-A66S-10A-01D-A30H-08 g.chr3:167278004C>G c.499G>C c.(499-501)Gat>Cat p.D167H HNSC 3 167278011 167278011 + Silent SNP G G A TCGA-HD-8314-01A-11D-2394-08 TCGA-HD-8314-10A-01D-2394-08 g.chr3:167278011G>A c.492C>T c.(490-492)atC>atT p.I164I KICH 3 167245753 167245753 + Missense_Mutation SNP A A T TCGA-KN-8433-01A-11D-2310-10 TCGA-KN-8433-11A-01D-2311-10 g.chr3:167245753A>T c.1403T>A c.(1402-1404)aTa>aAa p.I468K KICH 3 167272531 167272531 + Missense_Mutation SNP G G T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr3:167272531G>T c.707C>A c.(706-708)gCt>gAt p.A236D KIPAN 3 167245753 167245753 + Missense_Mutation SNP A A T TCGA-KN-8433-01A-11D-2310-10 TCGA-KN-8433-11A-01D-2311-10 g.chr3:167245753A>T c.1403T>A c.(1402-1404)aTa>aAa p.I468K KIPAN 3 167250750 167250750 + Missense_Mutation SNP T T G TCGA-B0-4844-01A-01D-1361-10 TCGA-B0-4844-11A-01D-1361-10 g.chr3:167250750T>G c.914A>C c.(913-915)gAa>gCa p.E305A KIPAN 3 167272531 167272531 + Missense_Mutation SNP G G T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr3:167272531G>T c.707C>A c.(706-708)gCt>gAt p.A236D KIRC 3 167250750 167250750 + Missense_Mutation SNP T T G TCGA-B0-4844-01A-01D-1361-10 TCGA-B0-4844-11A-01D-1361-10 g.chr3:167250750T>G c.914A>C c.(913-915)gAa>gCa p.E305A LGG 3 167223186 167223186 + Missense_Mutation SNP A A T TCGA-E1-5322-01A-01D-1468-08 TCGA-E1-5322-10A-01D-1468-08 g.chr3:167223186A>T c.1737T>A c.(1735-1737)gaT>gaA p.D579E LGG 3 167245662 167245662 + Missense_Mutation SNP G G C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:167245662G>C c.1494C>G c.(1492-1494)gaC>gaG p.D498E LGG 3 167245747 167245747 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:167245747G>A c.1409C>T c.(1408-1410)tCa>tTa p.S470L LGG 3 167246909 167246909 + Silent SNP A A G TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 g.chr3:167246909A>G c.1281T>C c.(1279-1281)tcT>tcC p.S427S LGG 3 167248987 167248987 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:167248987G>A c.1078C>T c.(1078-1080)Cgc>Tgc p.R360C LGG 3 167322149 167322149 + Missense_Mutation SNP A A G TCGA-E1-A7YU-01A-11D-A34J-08 TCGA-E1-A7YU-10A-01D-A34M-08 g.chr3:167322149A>G c.43T>C c.(43-45)Tcc>Ccc p.S15P LIHC 3 167196762 167196762 + Missense_Mutation SNP C C A TCGA-DD-AAVV-01A-11D-A40R-10 TCGA-DD-AAVV-10A-01D-A40U-10 g.chr3:167196762C>A c.1998G>T c.(1996-1998)gaG>gaT p.E666D LIHC 3 167246878 167246878 + Missense_Mutation SNP C C T TCGA-BC-A10U-01A-11D-A12Z-10 TCGA-BC-A10U-11A-11D-A12Z-10 g.chr3:167246878C>T c.1312G>A c.(1312-1314)Gga>Aga p.G438R LIHC 3 167250760 167250760 + Missense_Mutation SNP A A C TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr3:167250760A>C c.904T>G c.(904-906)Tat>Gat p.Y302D LIHC 3 167254660 167254660 + Missense_Mutation SNP G G A TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr3:167254660G>A c.896C>T c.(895-897)aCg>aTg p.T299M LIHC 3 167277885 167277885 + Silent SNP C C T TCGA-CC-A7IG-01A-11D-A33K-10 TCGA-CC-A7IG-10A-01D-A33K-10 g.chr3:167277885C>T c.618G>A c.(616-618)cgG>cgA p.R206R LIHC 3 167277892 167277892 + Missense_Mutation SNP T T A TCGA-CC-A3M9-01A-11D-A20W-10 TCGA-CC-A3M9-10A-01D-A20W-10 g.chr3:167277892T>A c.611A>T c.(610-612)gAg>gTg p.E204V LIHC 3 167293897 167293897 + Missense_Mutation SNP T T A TCGA-DD-AADA-01A-11D-A40R-10 TCGA-DD-AADA-10A-01D-A40U-10 g.chr3:167293897T>A c.295A>T c.(295-297)Agg>Tgg p.R99W LIHC 3 167293931 167293931 + Missense_Mutation SNP T T A TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr3:167293931T>A c.261A>T c.(259-261)agA>agT p.R87S LUAD 3 167217976 167217976 + Missense_Mutation SNP C C A TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr3:167217976C>A c.1940G>T c.(1939-1941)cGt>cTt p.R647L LUAD 3 167218013 167218013 + Missense_Mutation SNP G G T TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr3:167218013G>T c.1903C>A c.(1903-1905)Cct>Act p.P635T LUAD 3 167218056 167218056 + Silent SNP C C G TCGA-MP-A4T4-01A-11D-A25L-08 TCGA-MP-A4T4-10A-01D-A25L-08 g.chr3:167218056C>G c.1860G>C c.(1858-1860)ctG>ctC p.L620L LUAD 3 167240120 167240120 + Silent SNP T T C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 g.chr3:167240120T>C c.1701A>G c.(1699-1701)aaA>aaG p.K567K LUAD 3 167240228 167240228 + Missense_Mutation SNP T T A TCGA-17-Z013-01A-01W-0746-08 TCGA-17-Z013-11A-01W-0746-08 g.chr3:167240228T>A c.1593A>T c.(1591-1593)agA>agT p.R531S LUAD 3 167240272 167240272 + Splice_Site SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr3:167240272C>A c.1549G>T c.(1549-1551)Gca>Tca p.A517S LUAD 3 167245610 167245610 + Nonsense_Mutation SNP G G A TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr3:167245610G>A c.1546C>T c.(1546-1548)Cag>Tag p.Q516* LUAD 3 167245634 167245634 + Missense_Mutation SNP T T G TCGA-55-A48X-01A-11D-A24D-08 TCGA-55-A48X-10A-01D-A24F-08 g.chr3:167245634T>G c.1522A>C c.(1522-1524)Aat>Cat p.N508H LUAD 3 167245669 167245669 + Missense_Mutation SNP G G A TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr3:167245669G>A c.1487C>T c.(1486-1488)tCt>tTt p.S496F LUAD 3 167245694 167245694 + Missense_Mutation SNP C C A TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr3:167245694C>A c.1462G>T c.(1462-1464)Ggt>Tgt p.G488C LUAD 3 167246840 167246840 + Splice_Site SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 g.chr3:167246840C>A c.1350G>T c.(1348-1350)gaG>gaT p.E450D LUAD 3 167246862 167246862 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 g.chr3:167246862C>A c.1328G>T c.(1327-1329)tGg>tTg p.W443L LUAD 3 167246875 167246875 + Missense_Mutation SNP C C A TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr3:167246875C>A c.1315G>T c.(1315-1317)Gat>Tat p.D439Y LUAD 3 167246931 167246931 + Missense_Mutation SNP C C G TCGA-17-Z057-01A-01W-0747-08 TCGA-17-Z057-11A-01W-0747-08 g.chr3:167246931C>G c.1259G>C c.(1258-1260)gGa>gCa p.G420A LUAD 3 167246938 167246938 + Missense_Mutation SNP G G C TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr3:167246938G>C c.1252C>G c.(1252-1254)Cat>Gat p.H418D LUAD 3 167247010 167247010 + Missense_Mutation SNP A A G TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 g.chr3:167247010A>G c.1180T>C c.(1180-1182)Tca>Cca p.S394P LUAD 3 167248912 167248912 + Missense_Mutation SNP C C G TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr3:167248912C>G c.1153G>C c.(1153-1155)Gca>Cca p.A385P LUAD 3 167248972 167248972 + Missense_Mutation SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 g.chr3:167248972C>T c.1093G>A c.(1093-1095)Gac>Aac p.D365N LUAD 3 167248993 167248993 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 g.chr3:167248993C>T c.1072G>A c.(1072-1074)Gga>Aga p.G358R LUAD 3 167249008 167249008 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 g.chr3:167249008C>A c.1057G>T c.(1057-1059)Gac>Tac p.D353Y LUAD 3 167249022 167249022 + Missense_Mutation SNP G G C TCGA-55-7570-01A-11D-2036-08 TCGA-55-7570-10A-01D-2036-08 g.chr3:167249022G>C c.1043C>G c.(1042-1044)tCc>tGc p.S348C LUAD 3 167250697 167250697 + Missense_Mutation SNP C C G TCGA-44-A47A-01A-21D-A24D-08 TCGA-44-A47A-10A-01D-A24F-08 g.chr3:167250697C>G c.967G>C c.(967-969)Gat>Cat p.D323H LUAD 3 167250700 167250700 + Missense_Mutation SNP G G T TCGA-50-5045-01A-01D-1625-08 TCGA-50-5045-10A-01D-1625-08 g.chr3:167250700G>T c.964C>A c.(964-966)Cct>Act p.P322T LUAD 3 167250715 167250715 + Missense_Mutation SNP G G T TCGA-55-A493-01A-11D-A24D-08 TCGA-55-A493-10A-01D-A24F-08 g.chr3:167250715G>T c.949C>A c.(949-951)Cac>Aac p.H317N LUAD 3 167254657 167254657 + Splice_Site SNP C C A TCGA-95-7562-01A-11D-2238-08 TCGA-95-7562-10B-01D-2238-08 g.chr3:167254657C>A c.e7+1 LUAD 3 167254714 167254714 + Missense_Mutation SNP T T A TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr3:167254714T>A c.842A>T c.(841-843)cAg>cTg p.Q281L LUAD 3 167254771 167254771 + Missense_Mutation SNP C C G TCGA-97-A4M1-01A-11D-A24P-08 TCGA-97-A4M1-10A-01D-A24P-08 g.chr3:167254771C>G c.785G>C c.(784-786)cGa>cCa p.R262P LUAD 3 167272470 167272470 + Splice_Site SNP C C A TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr3:167272470C>A c.e6+1 LUAD 3 167272471 167272471 + Splice_Site SNP C C A TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr3:167272471C>A c.767G>T c.(766-768)aGg>aTg p.R256M LUAD 3 167272528 167272528 + Missense_Mutation SNP A A T TCGA-17-Z062-01A-01W-0747-08 TCGA-17-Z062-11A-01W-0747-08 g.chr3:167272528A>T c.710T>A c.(709-711)gTg>gAg p.V237E LUAD 3 167272542 167272542 + Silent SNP C C A TCGA-55-8511-01A-11D-2393-08 TCGA-55-8511-10A-01D-2393-08 g.chr3:167272542C>A c.696G>T c.(694-696)ggG>ggT p.G232G LUAD 3 167277872 167277872 + Missense_Mutation SNP T T A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 g.chr3:167277872T>A c.631A>T c.(631-633)Agc>Tgc p.S211C LUAD 3 167277909 167277909 + Missense_Mutation SNP C C G TCGA-55-8208-01A-11D-2238-08 TCGA-55-8208-10A-01D-2238-08 g.chr3:167277909C>G c.594G>C c.(592-594)atG>atC p.M198I LUAD 3 167277997 167277997 + Missense_Mutation SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 g.chr3:167277997C>T c.506G>A c.(505-507)gGg>gAg p.G169E LUAD 3 167293709 167293710 + In_Frame_Ins INS - - TTCAAGATA TCGA-73-4670-01A-01D-1265-08 TCGA-73-4670-11A-01D-1265-08 g.chr3:167293709_167293710insTTCAAGATA c.482_483insTATCTTGAA c.(481-483)aag>aaTATCTTGAAg p.160_161insNIL LUAD 3 167319990 167319990 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr3:167319990C>A c.177G>T c.(175-177)tgG>tgT p.W59C LUAD 3 167322097 167322097 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 g.chr3:167322097T>C c.95A>G c.(94-96)aAt>aGt p.N32S LUAD 3 167322098 167322098 + Missense_Mutation SNP T T A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 g.chr3:167322098T>A c.94A>T c.(94-96)Aat>Tat p.N32Y LUAD 3 167322121 167322121 + Missense_Mutation SNP G G C TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr3:167322121G>C c.71C>G c.(70-72)gCt>gGt p.A24G LUAD 3 167322164 167322164 + Missense_Mutation SNP G G T TCGA-55-A492-01A-11D-A24D-08 TCGA-55-A492-10A-01D-A24F-08 g.chr3:167322164G>T c.28C>A c.(28-30)Cgt>Agt p.R10S LUSC 3 167223158 167223158 + Missense_Mutation SNP T T C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 g.chr3:167223158T>C c.1765A>G c.(1765-1767)Aga>Gga p.R589G LUSC 3 167240178 167240178 + Missense_Mutation SNP G G A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 g.chr3:167240178G>A c.1643C>T c.(1642-1644)tCt>tTt p.S548F LUSC 3 167245649 167245649 + Missense_Mutation SNP C C A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 g.chr3:167245649C>A c.1507G>T c.(1507-1509)Gtg>Ttg p.V503L LUSC 3 167245807 167245807 + Splice_Site SNP T T C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 g.chr3:167245807T>C c.e11-2 LUSC 3 167246922 167246922 + Missense_Mutation SNP G G C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 g.chr3:167246922G>C c.1268C>G c.(1267-1269)tCg>tGg p.S423W LUSC 3 167248946 167248946 + Missense_Mutation SNP C C A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 g.chr3:167248946C>A c.1119G>T c.(1117-1119)atG>atT p.M373I LUSC 3 167248976 167248976 + Silent SNP C C T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 g.chr3:167248976C>T c.1089G>A c.(1087-1089)gaG>gaA p.E363E LUSC 3 167254726 167254726 + Missense_Mutation SNP T T A TCGA-60-2711-01A-01D-1522-08 TCGA-60-2711-11A-01D-1522-08 g.chr3:167254726T>A c.830A>T c.(829-831)aAa>aTa p.K277I LUSC 3 167272570 167272570 + Missense_Mutation SNP C C A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr3:167272570C>A c.668G>T c.(667-669)gGa>gTa p.G223V LUSC 3 167293742 167293742 + Silent SNP T T A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 g.chr3:167293742T>A c.450A>T c.(448-450)gcA>gcT p.A150A OV 3 167223147 167223147 + Silent SNP G G A TCGA-09-1672-01A-01W-0633-09 TCGA-09-1672-10A-01W-0633-09 g.chr3:167223147G>A c.1776C>T c.(1774-1776)tgC>tgT p.C592C OV 3 167246840 167246840 + Splice_Site SNP C C A TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 g.chr3:167246840C>A c.1350G>T c.(1348-1350)gaG>gaT p.E450D OV 3 167250750 167250750 + Missense_Mutation SNP T T G TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 g.chr3:167250750T>G c.914A>C c.(913-915)gAa>gCa p.E305A OV 3 167254678 167254678 + Missense_Mutation SNP G G T TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 g.chr3:167254678G>T c.878C>A c.(877-879)cCt>cAt p.P293H OV 3 167293809 167293809 + Missense_Mutation SNP T T C TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 g.chr3:167293809T>C c.383A>G c.(382-384)aAt>aGt p.N128S PAAD 3 167246892 167246892 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:167246892C>T c.1298G>A c.(1297-1299)cGa>cAa p.R433Q PAAD 3 167293928 167293928 + Silent SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:167293928G>T c.264C>A c.(262-264)ctC>ctA p.L88L PRAD 3 167217986 167217986 + Nonsense_Mutation SNP C C A TCGA-J4-A67S-01A-11D-A30E-08 TCGA-J4-A67S-10A-01D-A30H-08 g.chr3:167217986C>A c.1930G>T c.(1930-1932)Gag>Tag p.E644* PRAD 3 167249006 167249006 + Missense_Mutation SNP G G C TCGA-M7-A725-01A-12D-A32B-08 TCGA-M7-A725-10A-01D-A329-08 g.chr3:167249006G>C c.1059C>G c.(1057-1059)gaC>gaG p.D353E PRAD 3 167277926 167277926 + Missense_Mutation SNP C C T TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 g.chr3:167277926C>T c.577G>A c.(577-579)Gca>Aca p.A193T PRAD 3 167293928 167293928 + Silent SNP G G T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:167293928G>T c.264C>A c.(262-264)ctC>ctA p.L88L PRAD 3 167319938 167319938 + Missense_Mutation SNP G G T TCGA-HC-7231-01A-11D-2114-08 TCGA-HC-7231-10A-01D-2115-08 g.chr3:167319938G>T c.229C>A c.(229-231)Ctt>Att p.L77I READ 3 167245795 167245795 + Missense_Mutation SNP A A C TCGA-AH-6643-01A-11D-1826-10 TCGA-AH-6643-11A-01D-1826-10 g.chr3:167245795A>C c.1361T>G c.(1360-1362)cTt>cGt p.L454R READ 3 167248970 167248970 + Silent SNP G G A TCGA-AF-6136-01A-11D-1826-10 TCGA-AF-6136-10A-01D-1826-10 g.chr3:167248970G>A c.1095C>T c.(1093-1095)gaC>gaT p.D365D READ 3 167293922 167293922 + Silent SNP A A G TCGA-AG-3896-01A-01W-1073-09 TCGA-AG-3896-10A-01W-1073-09 g.chr3:167293922A>G c.270T>C c.(268-270)gaT>gaC p.D90D READ 3 167322162 167322162 + Silent SNP A A G TCGA-DC-6160-01A-11D-1657-10 TCGA-DC-6160-10A-01D-1657-10 g.chr3:167322162A>G c.30T>C c.(28-30)cgT>cgC p.R10R SARC 3 167248902 167248902 + Splice_Site SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 g.chr3:167248902C>T c.e9+1 SARC 3 167277889 167277889 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr3:167277889G>A c.614C>T c.(613-615)aCt>aTt p.T205I SKCM 3 167196684 167196684 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr3:167196684C>T c.2076G>A c.(2074-2076)gtG>gtA p.V692V SKCM 3 167196724 167196724 + Missense_Mutation SNP C C T TCGA-EE-A2MU-06A-21D-A196-08 TCGA-EE-A2MU-10A-01D-A198-08 g.chr3:167196724C>T c.2036G>A c.(2035-2037)cGa>cAa p.R679Q SKCM 3 167196724 167196724 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr3:167196724C>T c.2036G>A c.(2035-2037)cGa>cAa p.R679Q SKCM 3 167196728 167196728 + Missense_Mutation SNP C C T TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr3:167196728C>T c.2032G>A c.(2032-2034)Gaa>Aaa p.E678K SKCM 3 167196743 167196743 + Missense_Mutation SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr3:167196743C>T c.2017G>A c.(2017-2019)Gaa>Aaa p.E673K SKCM 3 167217983 167217983 + Missense_Mutation SNP C C T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr3:167217983C>T c.1933G>A c.(1933-1935)Gaa>Aaa p.E645K SKCM 3 167217996 167217996 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr3:167217996C>T c.1920G>A c.(1918-1920)agG>agA p.R640R SKCM 3 167218000 167218000 + Missense_Mutation SNP A A T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr3:167218000A>T c.1916T>A c.(1915-1917)tTt>tAt p.F639Y SKCM 3 167218007 167218007 + Missense_Mutation SNP T T C TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr3:167218007T>C c.1909A>G c.(1909-1911)Aaa>Gaa p.K637E SKCM 3 167218038 167218038 + Silent SNP C C T TCGA-FS-A1ZP-06A-11D-A197-08 TCGA-FS-A1ZP-10A-01D-A199-08 g.chr3:167218038C>T c.1878G>A c.(1876-1878)gtG>gtA p.V626V SKCM 3 167223161 167223161 + Missense_Mutation SNP C C T TCGA-D3-A5GS-06A-11D-A27K-08 TCGA-D3-A5GS-10A-01D-A27N-08 g.chr3:167223161C>T c.1762G>A c.(1762-1764)Gaa>Aaa p.E588K SKCM 3 167223161 167223161 + Missense_Mutation SNP C C T TCGA-FS-A1ZP-06A-11D-A197-08 TCGA-FS-A1ZP-10A-01D-A199-08 g.chr3:167223161C>T c.1762G>A c.(1762-1764)Gaa>Aaa p.E588K SKCM 3 167223193 167223193 + Missense_Mutation SNP G G A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr3:167223193G>A c.1730C>T c.(1729-1731)tCa>tTa p.S577L SKCM 3 167240187 167240187 + Missense_Mutation SNP G G A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr3:167240187G>A c.1634C>T c.(1633-1635)tCt>tTt p.S545F SKCM 3 167240194 167240194 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr3:167240194C>T c.1627G>A c.(1627-1629)Gaa>Aaa p.E543K SKCM 3 167240194 167240194 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:167240194C>T c.1627G>A c.(1627-1629)Gaa>Aaa p.E543K SKCM 3 167240194 167240194 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr3:167240194C>T c.1627G>A c.(1627-1629)Gaa>Aaa p.E543K SKCM 3 167240235 167240235 + Missense_Mutation SNP G G A TCGA-EE-A3AD-06A-11D-A196-08 TCGA-EE-A3AD-10A-01D-A198-08 g.chr3:167240235G>A c.1586C>T c.(1585-1587)cCt>cTt p.P529L SKCM 3 167240236 167240236 + Missense_Mutation SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr3:167240236G>A c.1585C>T c.(1585-1587)Cct>Tct p.P529S SKCM 3 167240254 167240254 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:167240254C>T c.1567G>A c.(1567-1569)Gaa>Aaa p.E523K SKCM 3 167245717 167245717 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 g.chr3:167245717G>A c.1439C>T c.(1438-1440)tCc>tTc p.S480F SKCM 3 167245747 167245747 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 g.chr3:167245747G>A c.1409C>T c.(1408-1410)tCa>tTa p.S470L SKCM 3 167245759 167245759 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr3:167245759G>A c.1397C>T c.(1396-1398)aCt>aTt p.T466I SKCM 3 167245782 167245782 + Silent SNP C C T TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chr3:167245782C>T c.1374G>A c.(1372-1374)aaG>aaA p.K458K SKCM 3 167245788 167245788 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 g.chr3:167245788G>A c.1368C>T c.(1366-1368)tcC>tcT p.S456S SKCM 3 167246850 167246850 + Nonsense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr3:167246850C>T c.1340G>A c.(1339-1341)tGg>tAg p.W447* SKCM 3 167246892 167246892 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 g.chr3:167246892C>T c.1298G>A c.(1297-1299)cGa>cAa p.R433Q SKCM 3 167246922 167246922 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 g.chr3:167246922G>A c.1268C>T c.(1267-1269)tCg>tTg p.S423L SKCM 3 167246922 167246922 + Missense_Mutation SNP G G A TCGA-EE-A180-06A-11D-A21A-08 TCGA-EE-A180-10B-01D-A21A-08 g.chr3:167246922G>A c.1268C>T c.(1267-1269)tCg>tTg p.S423L SKCM 3 167246928 167246928 + Missense_Mutation SNP A A G TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr3:167246928A>G c.1262T>C c.(1261-1263)gTt>gCt p.V421A SKCM 3 167246950 167246950 + Missense_Mutation SNP C C T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr3:167246950C>T c.1240G>A c.(1240-1242)Gaa>Aaa p.E414K SKCM 3 167246977 167246977 + Missense_Mutation SNP C C T TCGA-EE-A3AH-06A-11D-A196-08 TCGA-EE-A3AH-10A-01D-A198-08 g.chr3:167246977C>T c.1213G>A c.(1213-1215)Gat>Aat p.D405N SKCM 3 167247009 167247009 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:167247009G>A c.1181C>T c.(1180-1182)tCa>tTa p.S394L SKCM 3 167247019 167247019 + Missense_Mutation SNP T T C TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr3:167247019T>C c.1171A>G c.(1171-1173)Aac>Gac p.N391D SKCM 3 167247024 167247024 + Missense_Mutation SNP C C T TCGA-FS-A1ZC-06A-11D-A197-08 TCGA-FS-A1ZC-10A-01D-A199-08 g.chr3:167247024C>T c.1166G>A c.(1165-1167)gGa>gAa p.G389E SKCM 3 167248902 167248902 + Splice_Site SNP C C T TCGA-EE-A2GT-06A-12D-A197-08 TCGA-EE-A2GT-10A-01D-A199-08 g.chr3:167248902C>T c.e9+1 SKCM 3 167249024 167249024 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 g.chr3:167249024G>A c.1041C>T c.(1039-1041)ccC>ccT p.P347P SKCM 3 167249033 167249033 + Silent SNP T T C TCGA-EE-A3J4-06A-11D-A20D-08 TCGA-EE-A3J4-10A-01D-A20D-08 g.chr3:167249033T>C c.1032A>G c.(1030-1032)agA>agG p.R344R SKCM 3 167250699 167250699 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 g.chr3:167250699G>A c.965C>T c.(964-966)cCt>cTt p.P322L SKCM 3 167250754 167250754 + Missense_Mutation SNP C C T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr3:167250754C>T c.910G>A c.(910-912)Gga>Aga p.G304R SKCM 3 167254669 167254669 + Missense_Mutation SNP G G A TCGA-ER-A2NC-06A-11D-A197-08 TCGA-ER-A2NC-10A-01D-A199-08 g.chr3:167254669G>A c.887C>T c.(886-888)aCt>aTt p.T296I SKCM 3 167254736 167254736 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr3:167254736C>T c.820G>A c.(820-822)Gaa>Aaa p.E274K SKCM 3 167254743 167254743 + Silent SNP G G A TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr3:167254743G>A c.813C>T c.(811-813)atC>atT p.I271I SKCM 3 167272581 167272581 + Nonsense_Mutation SNP C C T TCGA-D3-A2JO-06A-11D-A196-08 TCGA-D3-A2JO-10A-01D-A198-08 g.chr3:167272581C>T c.657G>A c.(655-657)tgG>tgA p.W219* SKCM 3 167272581 167272581 + Nonsense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:167272581C>T c.657G>A c.(655-657)tgG>tgA p.W219* SKCM 3 167277918 167277918 + Silent SNP G G A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr3:167277918G>A c.585C>T c.(583-585)atC>atT p.I195I SKCM 3 167277932 167277932 + Missense_Mutation SNP C C T TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr3:167277932C>T c.571G>A c.(571-573)Ggc>Agc p.G191S SKCM 3 167277998 167277998 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr3:167277998C>T c.505G>A c.(505-507)Ggg>Agg p.G169R SKCM 3 167293710 167293710 + Missense_Mutation SNP T T C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr3:167293710T>C c.482A>G c.(481-483)aAg>aGg p.K161R SKCM 3 167293760 167293760 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr3:167293760C>T c.432G>A c.(430-432)gtG>gtA p.V144V SKCM 3 167293777 167293777 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:167293777C>T c.415G>A c.(415-417)Gaa>Aaa p.E139K SKCM 3 167319957 167319957 + Silent SNP G G A TCGA-EE-A29P-06A-11D-A197-08 TCGA-EE-A29P-10A-01D-A199-08 g.chr3:167319957G>A c.210C>T c.(208-210)ttC>ttT p.F70F SKCM 3 167319987 167319987 + Silent SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr3:167319987G>A c.180C>T c.(178-180)ggC>ggT p.G60G SKCM 3 167320025 167320025 + Missense_Mutation SNP G G A TCGA-EE-A2GM-06B-11D-A196-08 TCGA-EE-A2GM-10A-01D-A198-08 g.chr3:167320025G>A c.142C>T c.(142-144)Ccc>Tcc p.P48S

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 3 167196776 167196776 single base substitution C G 3_prime_UTR_variant BLCA-US 3 167196776 167196776 single base substitution C G missense_variant A487P 1459G>C BLCA-US 3 167196776 167196776 single base substitution C G missense_variant A627P 1879G>C BLCA-US 3 167196776 167196776 single base substitution C G missense_variant A638P 1912G>C BLCA-US 3 167196776 167196776 single base substitution C G missense_variant A662P 1984G>C BLCA-US 3 167245664 167245664 single base substitution C T intron_variant BLCA-US 3 167245664 167245664 single base substitution C T missense_variant D323N 967G>A BLCA-US 3 167245664 167245664 single base substitution C T missense_variant D498N 1492G>A BLCA-US 3 167248966 167248966 single base substitution C T downstream_gene_variant BLCA-US 3 167248966 167248966 single base substitution C T intron_variant BLCA-US 3 167248966 167248966 single base substitution C T missense_variant E192K 574G>A BLCA-US 3 167248966 167248966 single base substitution C T missense_variant E367K 1099G>A BLCA-US 3 167248966 167248966 single base substitution C T missense_variant E431K 1291G>A BLCA-US 3 167248966 167248966 single base substitution C T missense_variant E442K 1324G>A BLCA-US 3 167248966 167248966 single base substitution C T missense_variant E4K 10G>A BLCA-US 3 167249008 167249008 single base substitution C G downstream_gene_variant BLCA-US 3 167249008 167249008 single base substitution C G intron_variant BLCA-US 3 167249008 167249008 single base substitution C G missense_variant D178H 532G>C BLCA-US 3 167249008 167249008 single base substitution C G missense_variant D353H 1057G>C BLCA-US 3 167249008 167249008 single base substitution C G missense_variant D417H 1249G>C BLCA-US 3 167249008 167249008 single base substitution C G missense_variant D428H 1282G>C BLCA-US 3 167249008 167249008 single base substitution C G upstream_gene_variant BLCA-US 3 167254660 167254660 single base substitution G A intron_variant BLCA-US 3 167254660 167254660 single base substitution G A missense_variant T124M 371C>T BLCA-US 3 167254660 167254660 single base substitution G A missense_variant T299M 896C>T BLCA-US 3 167254660 167254660 single base substitution G A missense_variant T363M 1088C>T BLCA-US 3 167254660 167254660 single base substitution G A missense_variant T374M 1121C>T BLCA-US 3 167254660 167254660 single base substitution G A splice_region_variant BLCA-US 3 167277882 167277882 single base substitution A G intron_variant BLCA-US 3 167277882 167277882 single base substitution A G synonymous_variant L100L 300T>C BLCA-US 3 167277882 167277882 single base substitution A G synonymous_variant L207L 621T>C BLCA-US 3 167277882 167277882 single base substitution A G synonymous_variant L260L 780T>C BLCA-US 3 167277882 167277882 single base substitution A G synonymous_variant L271L 813T>C BLCA-US 3 167277882 167277882 single base substitution A G synonymous_variant L32L 96T>C BOCA-FR 3 167292663 167292663 single base substitution C A intron_variant BOCA-FR 3 167339776 167339776 single base substitution C A intron_variant BOCA-FR 3 167339776 167339776 single base substitution C A upstream_gene_variant BOCA-FR 3 167367987 167367987 single base substitution C T intron_variant BRCA-EU 3 167191700 167191700 single base substitution T C downstream_gene_variant BRCA-EU 3 167192095 167192095 single base substitution G A downstream_gene_variant BRCA-EU 3 167192111 167192111 single base substitution G A downstream_gene_variant BRCA-EU 3 167193057 167193057 single base substitution C T downstream_gene_variant BRCA-EU 3 167193512 167193512 single base substitution G A downstream_gene_variant BRCA-EU 3 167193516 167193516 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 167194345 167194345 single base substitution C A downstream_gene_variant BRCA-EU 3 167194930 167194930 single base substitution T A downstream_gene_variant BRCA-EU 3 167196968 167196968 single base substitution A G intron_variant BRCA-EU 3 167197892 167197892 single base substitution G T intron_variant BRCA-EU 3 167197985 167197985 single base substitution C T intron_variant BRCA-EU 3 167199311 167199311 single base substitution T A intron_variant BRCA-EU 3 167199426 167199426 deletion of <=200bp G - intron_variant BRCA-EU 3 167199509 167199509 single base substitution G A intron_variant BRCA-EU 3 167199632 167199632 single base substitution C A intron_variant BRCA-EU 3 167200360 167200360 single base substitution G A intron_variant BRCA-EU 3 167200878 167200878 single base substitution G A intron_variant BRCA-EU 3 167202237 167202237 insertion of <=200bp - AT intron_variant BRCA-EU 3 167202237 167202238 deletion of <=200bp AT - intron_variant BRCA-EU 3 167203325 167203340 deletion of <=200bp AGCTGAAATATTAAAT - intron_variant BRCA-EU 3 167203961 167203961 deletion of <=200bp A - intron_variant BRCA-EU 3 167204237 167204237 single base substitution C T intron_variant BRCA-EU 3 167205598 167205598 single base substitution T G intron_variant BRCA-EU 3 167209769 167209774 deletion of <=200bp GACATT - intron_variant BRCA-EU 3 167210903 167210903 single base substitution C A intron_variant BRCA-EU 3 167211202 167211202 single base substitution G A intron_variant BRCA-EU 3 167211486 167211486 single base substitution G C intron_variant BRCA-EU 3 167211555 167211555 single base substitution T G intron_variant BRCA-EU 3 167211945 167211945 single base substitution A T intron_variant BRCA-EU 3 167212199 167212199 single base substitution T A intron_variant BRCA-EU 3 167213104 167213104 single base substitution A C intron_variant BRCA-EU 3 167213405 167213405 single base substitution A G intron_variant BRCA-EU 3 167213511 167213511 single base substitution A C intron_variant BRCA-EU 3 167215479 167215479 single base substitution T C intron_variant BRCA-EU 3 167216456 167216456 single base substitution A C intron_variant BRCA-EU 3 167216806 167216806 single base substitution G A intron_variant BRCA-EU 3 167217295 167217295 single base substitution G A intron_variant BRCA-EU 3 167217612 167217612 single base substitution C T intron_variant BRCA-EU 3 167217822 167217822 single base substitution T A intron_variant BRCA-EU 3 167220403 167220403 single base substitution G T intron_variant BRCA-EU 3 167221354 167221354 single base substitution C T intron_variant BRCA-EU 3 167222071 167222071 single base substitution G C intron_variant BRCA-EU 3 167222921 167222921 single base substitution G C intron_variant BRCA-EU 3 167224358 167224358 single base substitution C T intron_variant BRCA-EU 3 167224566 167224566 single base substitution G T intron_variant BRCA-EU 3 167225108 167225108 single base substitution G A intron_variant BRCA-EU 3 167225161 167225161 single base substitution C G intron_variant BRCA-EU 3 167225731 167225731 deletion of <=200bp G - intron_variant BRCA-EU 3 167225762 167225762 single base substitution A G intron_variant BRCA-EU 3 167225792 167225792 single base substitution T G intron_variant BRCA-EU 3 167225959 167225959 single base substitution A T intron_variant BRCA-EU 3 167226233 167226233 single base substitution T C intron_variant BRCA-EU 3 167226388 167226388 single base substitution C A intron_variant BRCA-EU 3 167226586 167226586 single base substitution G C intron_variant BRCA-EU 3 167226591 167226591 single base substitution C G intron_variant BRCA-EU 3 167226598 167226598 single base substitution G T intron_variant BRCA-EU 3 167227516 167227516 single base substitution C T intron_variant BRCA-EU 3 167228203 167228203 deletion of <=200bp T - intron_variant BRCA-EU 3 167228203 167228203 insertion of <=200bp - T intron_variant BRCA-EU 3 167228415 167228415 single base substitution A C intron_variant BRCA-EU 3 167229784 167229784 single base substitution T A intron_variant BRCA-EU 3 167229814 167229814 single base substitution C T intron_variant BRCA-EU 3 167230005 167230005 single base substitution C T intron_variant BRCA-EU 3 167231846 167231846 single base substitution G C intron_variant BRCA-EU 3 167232058 167232058 single base substitution G T intron_variant BRCA-EU 3 167232209 167232209 single base substitution C T intron_variant BRCA-EU 3 167232564 167232564 single base substitution T C intron_variant BRCA-EU 3 167234047 167234047 single base substitution C T intron_variant BRCA-EU 3 167234356 167234356 single base substitution A C intron_variant BRCA-EU 3 167234575 167234575 single base substitution G A intron_variant BRCA-EU 3 167235477 167235477 single base substitution G A downstream_gene_variant BRCA-EU 3 167235477 167235477 single base substitution G A intron_variant BRCA-EU 3 167235778 167235778 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 167235778 167235778 deletion of <=200bp T - intron_variant BRCA-EU 3 167236054 167236054 single base substitution G A downstream_gene_variant BRCA-EU 3 167236054 167236054 single base substitution G A intron_variant BRCA-EU 3 167236265 167236265 single base substitution A G downstream_gene_variant BRCA-EU 3 167236265 167236265 single base substitution A G intron_variant BRCA-EU 3 167238471 167238471 single base substitution C A downstream_gene_variant BRCA-EU 3 167238471 167238471 single base substitution C A intron_variant BRCA-EU 3 167238491 167238491 single base substitution T C downstream_gene_variant BRCA-EU 3 167238491 167238491 single base substitution T C intron_variant BRCA-EU 3 167239065 167239065 single base substitution G A downstream_gene_variant BRCA-EU 3 167239065 167239065 single base substitution G A intron_variant BRCA-EU 3 167239436 167239436 single base substitution C G downstream_gene_variant BRCA-EU 3 167239436 167239436 single base substitution C G intron_variant BRCA-EU 3 167240311 167240311 single base substitution T C intron_variant BRCA-EU 3 167241421 167241421 single base substitution G T intron_variant BRCA-EU 3 167241694 167241694 single base substitution A G intron_variant BRCA-EU 3 167241930 167241930 single base substitution G A intron_variant BRCA-EU 3 167242083 167242083 single base substitution T A intron_variant BRCA-EU 3 167242503 167242503 single base substitution T C intron_variant BRCA-EU 3 167242784 167242784 single base substitution C T intron_variant BRCA-EU 3 167243099 167243099 single base substitution G C intron_variant BRCA-EU 3 167243295 167243295 single base substitution T C intron_variant BRCA-EU 3 167243430 167243430 single base substitution A T intron_variant BRCA-EU 3 167244674 167244674 single base substitution C A intron_variant BRCA-EU 3 167245058 167245058 single base substitution C A intron_variant BRCA-EU 3 167245588 167245588 single base substitution T G intron_variant BRCA-EU 3 167246145 167246145 single base substitution C T downstream_gene_variant BRCA-EU 3 167246145 167246145 single base substitution C T intron_variant BRCA-EU 3 167246251 167246251 single base substitution T A downstream_gene_variant BRCA-EU 3 167246251 167246251 single base substitution T A intron_variant BRCA-EU 3 167246520 167246520 single base substitution A C downstream_gene_variant BRCA-EU 3 167246520 167246520 single base substitution A C intron_variant BRCA-EU 3 167246581 167246581 single base substitution G T downstream_gene_variant BRCA-EU 3 167246581 167246581 single base substitution G T intron_variant BRCA-EU 3 167247149 167247149 single base substitution T C downstream_gene_variant BRCA-EU 3 167247149 167247149 single base substitution T C intron_variant BRCA-EU 3 167247374 167247374 single base substitution T C downstream_gene_variant BRCA-EU 3 167247374 167247374 single base substitution T C intron_variant BRCA-EU 3 167247549 167247549 single base substitution C A downstream_gene_variant BRCA-EU 3 167247549 167247549 single base substitution C A intron_variant BRCA-EU 3 167247822 167247822 single base substitution A T downstream_gene_variant BRCA-EU 3 167247822 167247822 single base substitution A T intron_variant BRCA-EU 3 167247836 167247836 single base substitution G A downstream_gene_variant BRCA-EU 3 167247836 167247836 single base substitution G A intron_variant BRCA-EU 3 167248096 167248096 single base substitution T C downstream_gene_variant BRCA-EU 3 167248096 167248096 single base substitution T C intron_variant BRCA-EU 3 167249198 167249198 single base substitution C G downstream_gene_variant BRCA-EU 3 167249198 167249198 single base substitution C G intron_variant BRCA-EU 3 167249198 167249198 single base substitution C G upstream_gene_variant BRCA-EU 3 167249239 167249239 single base substitution G C downstream_gene_variant BRCA-EU 3 167249239 167249239 single base substitution G C intron_variant BRCA-EU 3 167249239 167249239 single base substitution G C upstream_gene_variant BRCA-EU 3 167249696 167249696 single base substitution A G downstream_gene_variant BRCA-EU 3 167249696 167249696 single base substitution A G intron_variant BRCA-EU 3 167249696 167249696 single base substitution A G upstream_gene_variant BRCA-EU 3 167249826 167249828 deletion of <=200bp ATT - downstream_gene_variant BRCA-EU 3 167249826 167249828 deletion of <=200bp ATT - intron_variant BRCA-EU 3 167249826 167249828 deletion of <=200bp ATT - upstream_gene_variant BRCA-EU 3 167250254 167250254 single base substitution G A downstream_gene_variant BRCA-EU 3 167250254 167250254 single base substitution G A intron_variant BRCA-EU 3 167250254 167250254 single base substitution G A upstream_gene_variant BRCA-EU 3 167250377 167250377 insertion of <=200bp - A downstream_gene_variant BRCA-EU 3 167250377 167250377 insertion of <=200bp - A intron_variant BRCA-EU 3 167250377 167250377 insertion of <=200bp - A upstream_gene_variant BRCA-EU 3 167250813 167250813 single base substitution G C intron_variant BRCA-EU 3 167250813 167250813 single base substitution G C upstream_gene_variant BRCA-EU 3 167251535 167251535 single base substitution G A intron_variant BRCA-EU 3 167251535 167251535 single base substitution G A upstream_gene_variant BRCA-EU 3 167251561 167251561 single base substitution G A intron_variant BRCA-EU 3 167251561 167251561 single base substitution G A upstream_gene_variant BRCA-EU 3 167253245 167253245 single base substitution G C intron_variant BRCA-EU 3 167253245 167253245 single base substitution G C upstream_gene_variant BRCA-EU 3 167253376 167253376 single base substitution C G intron_variant BRCA-EU 3 167253376 167253376 single base substitution C G upstream_gene_variant BRCA-EU 3 167253967 167253967 single base substitution T A intron_variant BRCA-EU 3 167253967 167253967 single base substitution T A upstream_gene_variant BRCA-EU 3 167254709 167254709 single base substitution G C 3_prime_UTR_variant BRCA-EU 3 167254709 167254709 single base substitution G C intron_variant BRCA-EU 3 167254709 167254709 single base substitution G C missense_variant H108D 322C>G BRCA-EU 3 167254709 167254709 single base substitution G C missense_variant H283D 847C>G BRCA-EU 3 167254709 167254709 single base substitution G C missense_variant H347D 1039C>G BRCA-EU 3 167254709 167254709 single base substitution G C missense_variant H358D 1072C>G BRCA-EU 3 167254794 167254794 deletion of <=200bp A - intron_variant BRCA-EU 3 167254794 167254794 deletion of <=200bp A - splice_region_variant BRCA-EU 3 167254914 167254914 single base substitution A T intron_variant BRCA-EU 3 167255640 167255640 single base substitution T C intron_variant BRCA-EU 3 167256217 167256217 single base substitution C G intron_variant BRCA-EU 3 167256431 167256431 single base substitution T C intron_variant BRCA-EU 3 167256646 167256652 deletion of <=200bp GATAAAA - intron_variant BRCA-EU 3 167256791 167256807 deletion of <=200bp TTCTTCTATCCTTGCTT - intron_variant BRCA-EU 3 167257667 167257667 single base substitution T G intron_variant BRCA-EU 3 167258563 167258563 single base substitution G A intron_variant BRCA-EU 3 167258803 167258803 deletion of <=200bp A - intron_variant BRCA-EU 3 167259478 167259478 single base substitution T C intron_variant BRCA-EU 3 167260001 167260001 single base substitution C A intron_variant BRCA-EU 3 167260106 167260106 single base substitution A C intron_variant BRCA-EU 3 167260488 167260488 single base substitution A G intron_variant BRCA-EU 3 167260610 167260610 deletion of <=200bp A - intron_variant BRCA-EU 3 167260705 167260705 single base substitution G A intron_variant BRCA-EU 3 167261710 167261710 single base substitution T A intron_variant BRCA-EU 3 167261827 167261827 single base substitution G T intron_variant BRCA-EU 3 167262412 167262412 single base substitution G T intron_variant BRCA-EU 3 167262780 167262780 single base substitution G T intron_variant BRCA-EU 3 167262785 167262785 deletion of <=200bp A - intron_variant BRCA-EU 3 167262794 167262794 single base substitution T A intron_variant BRCA-EU 3 167263013 167263013 single base substitution G T intron_variant BRCA-EU 3 167263367 167263367 single base substitution G A intron_variant BRCA-EU 3 167264614 167264614 single base substitution G T intron_variant BRCA-EU 3 167264627 167264627 single base substitution T G intron_variant BRCA-EU 3 167265709 167265709 single base substitution C A intron_variant BRCA-EU 3 167266909 167266909 single base substitution T C intron_variant BRCA-EU 3 167267009 167267009 single base substitution C A intron_variant BRCA-EU 3 167267288 167267288 single base substitution A C intron_variant BRCA-EU 3 167268746 167268746 single base substitution T A downstream_gene_variant BRCA-EU 3 167268746 167268746 single base substitution T A intron_variant BRCA-EU 3 167269976 167269976 single base substitution G A downstream_gene_variant BRCA-EU 3 167269976 167269976 single base substitution G A intron_variant BRCA-EU 3 167270598 167270598 single base substitution T G downstream_gene_variant BRCA-EU 3 167270598 167270598 single base substitution T G intron_variant BRCA-EU 3 167270806 167270806 single base substitution C A downstream_gene_variant BRCA-EU 3 167270806 167270806 single base substitution C A intron_variant BRCA-EU 3 167271916 167271916 insertion of <=200bp - A downstream_gene_variant BRCA-EU 3 167271916 167271916 insertion of <=200bp - A intron_variant BRCA-EU 3 167272857 167272857 single base substitution C T intron_variant BRCA-EU 3 167273065 167273065 single base substitution C T intron_variant BRCA-EU 3 167273193 167273193 single base substitution A T intron_variant BRCA-EU 3 167274440 167274440 single base substitution G A intron_variant BRCA-EU 3 167275010 167275010 single base substitution G C intron_variant BRCA-EU 3 167275316 167275316 single base substitution T A intron_variant BRCA-EU 3 167275718 167275718 single base substitution A G intron_variant BRCA-EU 3 167275818 167275818 single base substitution G A intron_variant BRCA-EU 3 167276410 167276410 single base substitution T A intron_variant BRCA-EU 3 167276510 167276510 single base substitution C T intron_variant BRCA-EU 3 167276607 167276607 single base substitution C T intron_variant BRCA-EU 3 167277631 167277631 single base substitution C G intron_variant BRCA-EU 3 167279354 167279354 single base substitution T A intron_variant BRCA-EU 3 167280099 167280099 single base substitution G A intron_variant BRCA-EU 3 167280962 167280962 single base substitution G A intron_variant BRCA-EU 3 167281819 167281819 single base substitution C G intron_variant BRCA-EU 3 167281882 167281882 single base substitution C G intron_variant BRCA-EU 3 167282008 167282008 single base substitution G A intron_variant BRCA-EU 3 167282217 167282217 single base substitution A G intron_variant BRCA-EU 3 167282232 167282232 single base substitution C G intron_variant BRCA-EU 3 167282251 167282251 single base substitution G C intron_variant BRCA-EU 3 167282409 167282409 single base substitution G C intron_variant BRCA-EU 3 167282426 167282426 single base substitution G C intron_variant BRCA-EU 3 167283782 167283782 single base substitution C G intron_variant BRCA-EU 3 167283952 167283952 single base substitution A T intron_variant BRCA-EU 3 167284042 167284042 single base substitution A G intron_variant BRCA-EU 3 167284107 167284107 single base substitution C A intron_variant BRCA-EU 3 167284440 167284440 deletion of <=200bp A - intron_variant BRCA-EU 3 167284728 167284728 single base substitution A T intron_variant BRCA-EU 3 167284832 167284832 single base substitution C G intron_variant BRCA-EU 3 167284842 167284842 single base substitution T C intron_variant BRCA-EU 3 167284843 167284843 single base substitution T C intron_variant BRCA-EU 3 167284921 167284921 single base substitution G A intron_variant BRCA-EU 3 167286252 167286252 single base substitution A G intron_variant BRCA-EU 3 167286397 167286397 single base substitution A C intron_variant BRCA-EU 3 167286486 167286486 single base substitution G T intron_variant BRCA-EU 3 167286847 167286847 single base substitution C T intron_variant BRCA-EU 3 167287112 167287112 single base substitution G C intron_variant BRCA-EU 3 167287249 167287249 single base substitution A G intron_variant BRCA-EU 3 167288475 167288475 single base substitution T A intron_variant BRCA-EU 3 167288547 167288547 single base substitution C T intron_variant BRCA-EU 3 167288668 167288668 single base substitution G A intron_variant BRCA-EU 3 167288948 167288948 single base substitution G A intron_variant BRCA-EU 3 167289606 167289606 single base substitution T G intron_variant BRCA-EU 3 167290250 167290250 single base substitution T C intron_variant BRCA-EU 3 167290663 167290663 single base substitution A G intron_variant BRCA-EU 3 167290764 167290764 single base substitution A C intron_variant BRCA-EU 3 167290858 167290858 single base substitution A G intron_variant BRCA-EU 3 167291499 167291499 single base substitution A G intron_variant BRCA-EU 3 167291694 167291694 deletion of <=200bp A - intron_variant BRCA-EU 3 167292591 167292591 single base substitution G T intron_variant BRCA-EU 3 167293111 167293111 single base substitution C A intron_variant BRCA-EU 3 167293111 167293111 single base substitution C A upstream_gene_variant BRCA-EU 3 167293715 167293715 single base substitution G C 3_prime_UTR_variant BRCA-EU 3 167293715 167293715 single base substitution G C intron_variant BRCA-EU 3 167293715 167293715 single base substitution G C missense_variant I159M 477C>G BRCA-EU 3 167293715 167293715 single base substitution G C missense_variant I212M 636C>G BRCA-EU 3 167293715 167293715 single base substitution G C missense_variant I223M 669C>G BRCA-EU 3 167293715 167293715 single base substitution G C missense_variant I500M 1500C>G BRCA-EU 3 167293715 167293715 single base substitution G C upstream_gene_variant BRCA-EU 3 167293928 167293928 single base substitution G C 3_prime_UTR_variant BRCA-EU 3 167293928 167293928 single base substitution G C intron_variant BRCA-EU 3 167293928 167293928 single base substitution G C synonymous_variant L141L 423C>G BRCA-EU 3 167293928 167293928 single base substitution G C synonymous_variant L152L 456C>G BRCA-EU 3 167293928 167293928 single base substitution G C synonymous_variant L429L 1287C>G BRCA-EU 3 167293928 167293928 single base substitution G C synonymous_variant L88L 264C>G BRCA-EU 3 167293928 167293928 single base substitution G C upstream_gene_variant BRCA-EU 3 167294110 167294117 deletion of <=200bp TGTTTAAA - intron_variant BRCA-EU 3 167294110 167294117 deletion of <=200bp TGTTTAAA - upstream_gene_variant BRCA-EU 3 167294922 167294922 single base substitution G T intron_variant BRCA-EU 3 167294922 167294922 single base substitution G T upstream_gene_variant BRCA-EU 3 167295372 167295372 single base substitution A C intron_variant BRCA-EU 3 167295372 167295372 single base substitution A C upstream_gene_variant BRCA-EU 3 167296802 167296802 single base substitution G T intron_variant BRCA-EU 3 167296802 167296802 single base substitution G T upstream_gene_variant BRCA-EU 3 167299241 167299241 single base substitution A G intron_variant BRCA-EU 3 167299523 167299523 deletion of <=200bp A - intron_variant BRCA-EU 3 167299733 167299733 single base substitution T C intron_variant BRCA-EU 3 167300967 167300967 single base substitution T C intron_variant BRCA-EU 3 167301400 167301400 deletion of <=200bp A - intron_variant BRCA-EU 3 167301645 167301645 single base substitution G A intron_variant BRCA-EU 3 167301823 167301823 single base substitution A G intron_variant BRCA-EU 3 167301871 167301871 single base substitution A C intron_variant BRCA-EU 3 167302015 167302015 single base substitution G A intron_variant BRCA-EU 3 167303067 167303067 single base substitution C A intron_variant BRCA-EU 3 167303789 167303789 single base substitution G A intron_variant BRCA-EU 3 167304660 167304660 single base substitution C T intron_variant BRCA-EU 3 167304662 167304662 single base substitution G T intron_variant BRCA-EU 3 167304987 167304987 single base substitution C G intron_variant BRCA-EU 3 167306047 167306047 single base substitution C A intron_variant BRCA-EU 3 167307610 167307610 single base substitution G C intron_variant BRCA-EU 3 167307686 167307686 single base substitution C T intron_variant BRCA-EU 3 167308782 167308782 single base substitution G C intron_variant BRCA-EU 3 167308806 167308806 single base substitution G A intron_variant BRCA-EU 3 167309026 167309026 single base substitution G T intron_variant BRCA-EU 3 167309136 167309136 single base substitution T A intron_variant BRCA-EU 3 167310142 167310142 single base substitution T C intron_variant BRCA-EU 3 167310560 167310560 single base substitution G T intron_variant BRCA-EU 3 167310923 167310923 single base substitution G C intron_variant BRCA-EU 3 167311315 167311315 single base substitution C A intron_variant BRCA-EU 3 167311319 167311319 single base substitution G C intron_variant BRCA-EU 3 167311717 167311717 single base substitution G A intron_variant BRCA-EU 3 167312188 167312188 single base substitution G A intron_variant BRCA-EU 3 167312387 167312387 single base substitution A C intron_variant BRCA-EU 3 167312517 167312517 single base substitution G C intron_variant BRCA-EU 3 167313005 167313005 single base substitution G C intron_variant BRCA-EU 3 167314245 167314245 single base substitution C T intron_variant BRCA-EU 3 167314249 167314249 single base substitution G A intron_variant BRCA-EU 3 167314881 167314881 single base substitution G A intron_variant BRCA-EU 3 167315338 167315338 single base substitution A G intron_variant BRCA-EU 3 167315464 167315464 single base substitution C A intron_variant BRCA-EU 3 167317077 167317077 single base substitution C G intron_variant BRCA-EU 3 167317766 167317766 single base substitution T C intron_variant BRCA-EU 3 167317948 167317948 single base substitution G A intron_variant BRCA-EU 3 167318461 167318461 single base substitution C T intron_variant BRCA-EU 3 167319396 167319396 insertion of <=200bp - T intron_variant BRCA-EU 3 167319883 167319883 single base substitution A G intron_variant BRCA-EU 3 167319944 167319944 single base substitution T G 3_prime_UTR_variant BRCA-EU 3 167319944 167319944 single base substitution T G intron_variant BRCA-EU 3 167319944 167319944 single base substitution T G missense_variant K128Q 382A>C BRCA-EU 3 167319944 167319944 single base substitution T G missense_variant K139Q 415A>C BRCA-EU 3 167319944 167319944 single base substitution T G missense_variant K416Q 1246A>C BRCA-EU 3 167319944 167319944 single base substitution T G missense_variant K75Q 223A>C BRCA-EU 3 167320548 167320548 single base substitution C G intron_variant BRCA-EU 3 167320748 167320748 single base substitution A G intron_variant BRCA-EU 3 167323166 167323166 single base substitution G C intron_variant BRCA-EU 3 167324435 167324435 single base substitution G A intron_variant BRCA-EU 3 167324762 167324762 single base substitution G A intron_variant BRCA-EU 3 167325121 167325121 single base substitution C T intron_variant BRCA-EU 3 167327075 167327075 single base substitution G C intron_variant BRCA-EU 3 167327075 167327075 single base substitution G T intron_variant BRCA-EU 3 167327091 167327091 deletion of <=200bp A - intron_variant BRCA-EU 3 167327091 167327091 insertion of <=200bp - A intron_variant BRCA-EU 3 167327352 167327352 single base substitution G C intron_variant BRCA-EU 3 167327453 167327453 single base substitution G T intron_variant BRCA-EU 3 167327968 167327968 single base substitution C T intron_variant BRCA-EU 3 167328989 167328989 single base substitution C T intron_variant BRCA-EU 3 167329554 167329554 single base substitution G T intron_variant BRCA-EU 3 167330054 167330054 single base substitution G T intron_variant BRCA-EU 3 167331267 167331267 single base substitution G T intron_variant BRCA-EU 3 167332934 167332934 single base substitution G C intron_variant BRCA-EU 3 167333129 167333129 single base substitution G A intron_variant BRCA-EU 3 167333348 167333348 single base substitution T A intron_variant BRCA-EU 3 167333371 167333371 single base substitution A G intron_variant BRCA-EU 3 167333379 167333379 deletion of <=200bp T - intron_variant BRCA-EU 3 167336026 167336026 single base substitution A G downstream_gene_variant BRCA-EU 3 167336026 167336026 single base substitution A G intron_variant BRCA-EU 3 167336713 167336713 single base substitution G T downstream_gene_variant BRCA-EU 3 167336713 167336713 single base substitution G T intron_variant BRCA-EU 3 167337103 167337103 single base substitution A T downstream_gene_variant BRCA-EU 3 167337103 167337103 single base substitution A T intron_variant BRCA-EU 3 167337504 167337504 single base substitution C G downstream_gene_variant BRCA-EU 3 167337504 167337504 single base substitution C G intron_variant BRCA-EU 3 167337525 167337525 single base substitution G C downstream_gene_variant BRCA-EU 3 167337525 167337525 single base substitution G C intron_variant BRCA-EU 3 167340551 167340551 single base substitution T G downstream_gene_variant BRCA-EU 3 167340551 167340551 single base substitution T G intron_variant BRCA-EU 3 167340551 167340551 single base substitution T G upstream_gene_variant BRCA-EU 3 167341680 167341680 single base substitution T A downstream_gene_variant BRCA-EU 3 167341680 167341680 single base substitution T A intron_variant BRCA-EU 3 167341680 167341680 single base substitution T A upstream_gene_variant BRCA-EU 3 167341844 167341844 deletion of <=200bp A - downstream_gene_variant BRCA-EU 3 167341844 167341844 deletion of <=200bp A - intron_variant BRCA-EU 3 167341844 167341844 deletion of <=200bp A - upstream_gene_variant BRCA-EU 3 167343412 167343412 single base substitution A T downstream_gene_variant BRCA-EU 3 167343412 167343412 single base substitution A T intron_variant BRCA-EU 3 167344040 167344040 single base substitution A C downstream_gene_variant BRCA-EU 3 167344040 167344040 single base substitution A C intron_variant BRCA-EU 3 167344226 167344226 single base substitution G A downstream_gene_variant BRCA-EU 3 167344226 167344226 single base substitution G A intron_variant BRCA-EU 3 167345163 167345163 single base substitution G A intron_variant BRCA-EU 3 167345429 167345429 single base substitution G T intron_variant BRCA-EU 3 167346941 167346941 single base substitution G C intron_variant BRCA-EU 3 167347255 167347255 single base substitution A G intron_variant BRCA-EU 3 167347562 167347562 single base substitution C T intron_variant BRCA-EU 3 167347668 167347668 single base substitution C T intron_variant BRCA-EU 3 167348759 167348759 single base substitution C G intron_variant BRCA-EU 3 167349960 167349960 single base substitution C A intron_variant BRCA-EU 3 167351321 167351321 single base substitution C A intron_variant BRCA-EU 3 167351321 167351321 single base substitution C A splice_acceptor_variant BRCA-EU 3 167351322 167351322 single base substitution T A intron_variant BRCA-EU 3 167351322 167351322 single base substitution T A splice_acceptor_variant BRCA-EU 3 167351324 167351324 single base substitution G A intron_variant BRCA-EU 3 167351324 167351324 single base substitution G A splice_region_variant BRCA-EU 3 167351819 167351819 single base substitution T G intron_variant BRCA-EU 3 167353430 167353430 single base substitution G T intron_variant BRCA-EU 3 167353686 167353686 single base substitution C T intron_variant BRCA-EU 3 167353754 167353754 single base substitution T A intron_variant BRCA-EU 3 167354362 167354362 single base substitution T G intron_variant BRCA-EU 3 167355038 167355038 single base substitution G A intron_variant BRCA-EU 3 167355906 167355906 single base substitution T A intron_variant BRCA-EU 3 167356099 167356099 single base substitution G C intron_variant BRCA-EU 3 167357310 167357310 single base substitution A C intron_variant BRCA-EU 3 167358082 167358082 single base substitution C G intron_variant BRCA-EU 3 167358909 167358909 single base substitution G T intron_variant BRCA-EU 3 167360382 167360382 single base substitution G C intron_variant BRCA-EU 3 167361013 167361013 single base substitution G C intron_variant BRCA-EU 3 167361024 167361024 single base substitution T C intron_variant BRCA-EU 3 167361410 167361410 single base substitution A G intron_variant BRCA-EU 3 167361511 167361539 deletion of <=200bp TAACTGACACAGGGTAGACATTCAATAAA - intron_variant BRCA-EU 3 167362343 167362343 single base substitution A C intron_variant BRCA-EU 3 167362435 167362435 single base substitution T A intron_variant BRCA-EU 3 167363849 167363849 single base substitution T A intron_variant BRCA-EU 3 167365041 167365041 single base substitution C A intron_variant BRCA-EU 3 167365283 167365283 single base substitution T C intron_variant BRCA-EU 3 167365389 167365389 single base substitution G A intron_variant BRCA-EU 3 167365733 167365733 single base substitution G T intron_variant BRCA-EU 3 167366062 167366062 single base substitution T C intron_variant BRCA-EU 3 167366354 167366354 single base substitution G C intron_variant BRCA-EU 3 167367753 167367753 single base substitution C T intron_variant BRCA-EU 3 167369044 167369044 single base substitution T C intron_variant BRCA-EU 3 167372816 167372816 single base substitution G C upstream_gene_variant BRCA-EU 3 167373152 167373152 single base substitution G A upstream_gene_variant BRCA-EU 3 167373310 167373310 single base substitution C T upstream_gene_variant BRCA-EU 3 167374816 167374816 single base substitution A G upstream_gene_variant BRCA-EU 3 167375179 167375179 single base substitution A T upstream_gene_variant BRCA-EU 3 167375411 167375411 single base substitution C A upstream_gene_variant BRCA-EU 3 167376605 167376605 single base substitution C G upstream_gene_variant BRCA-FR 3 167193057 167193057 single base substitution C T downstream_gene_variant BRCA-FR 3 167195251 167195251 single base substitution T A downstream_gene_variant BRCA-FR 3 167198416 167198416 single base substitution G A intron_variant BRCA-FR 3 167228966 167228966 single base substitution A G intron_variant BRCA-FR 3 167229814 167229814 single base substitution C T intron_variant BRCA-FR 3 167230005 167230005 single base substitution C T intron_variant BRCA-FR 3 167231846 167231846 single base substitution G C intron_variant BRCA-FR 3 167234047 167234047 single base substitution C T intron_variant BRCA-FR 3 167246251 167246251 single base substitution T A downstream_gene_variant BRCA-FR 3 167246251 167246251 single base substitution T A intron_variant BRCA-FR 3 167247374 167247374 single base substitution T C downstream_gene_variant BRCA-FR 3 167247374 167247374 single base substitution T C intron_variant BRCA-FR 3 167247549 167247549 single base substitution C A downstream_gene_variant BRCA-FR 3 167247549 167247549 single base substitution C A intron_variant BRCA-FR 3 167250038 167250038 single base substitution G T downstream_gene_variant BRCA-FR 3 167250038 167250038 single base substitution G T intron_variant BRCA-FR 3 167250038 167250038 single base substitution G T upstream_gene_variant BRCA-FR 3 167250813 167250813 single base substitution G C intron_variant BRCA-FR 3 167250813 167250813 single base substitution G C upstream_gene_variant BRCA-FR 3 167253245 167253245 single base substitution G C intron_variant BRCA-FR 3 167253245 167253245 single base substitution G C upstream_gene_variant BRCA-FR 3 167256431 167256431 single base substitution T C intron_variant BRCA-FR 3 167260134 167260134 single base substitution C T intron_variant BRCA-FR 3 167261366 167261366 single base substitution C A intron_variant BRCA-FR 3 167266057 167266057 single base substitution C G intron_variant BRCA-FR 3 167272857 167272857 single base substitution C T intron_variant BRCA-FR 3 167281961 167281961 single base substitution T A intron_variant BRCA-FR 3 167281977 167281977 single base substitution G A intron_variant BRCA-FR 3 167286893 167286893 single base substitution C A intron_variant BRCA-FR 3 167292591 167292591 single base substitution G T intron_variant BRCA-FR 3 167301465 167301465 single base substitution A G intron_variant BRCA-FR 3 167311319 167311319 single base substitution G C intron_variant BRCA-FR 3 167311717 167311717 single base substitution G A intron_variant BRCA-FR 3 167312188 167312188 single base substitution G A intron_variant BRCA-FR 3 167312517 167312517 single base substitution G C intron_variant BRCA-FR 3 167312584 167312584 single base substitution G A intron_variant BRCA-FR 3 167313005 167313005 single base substitution G C intron_variant BRCA-FR 3 167329753 167329753 single base substitution T C intron_variant BRCA-FR 3 167337822 167337822 single base substitution C A downstream_gene_variant BRCA-FR 3 167337822 167337822 single base substitution C A intron_variant BRCA-FR 3 167348759 167348759 single base substitution C G intron_variant BRCA-FR 3 167358163 167358163 single base substitution T C intron_variant BRCA-FR 3 167359463 167359463 single base substitution C G intron_variant BRCA-FR 3 167361013 167361013 single base substitution G C intron_variant BRCA-FR 3 167361024 167361024 single base substitution T C intron_variant BRCA-FR 3 167363494 167363494 single base substitution G A intron_variant BRCA-FR 3 167367305 167367305 single base substitution C A intron_variant BRCA-KR 3 167196641 167196641 single base substitution A T 3_prime_UTR_variant BRCA-UK 3 167198382 167198382 single base substitution G A intron_variant BRCA-UK 3 167208721 167208721 insertion of <=200bp - T intron_variant BRCA-UK 3 167234356 167234356 single base substitution A C intron_variant BRCA-UK 3 167242083 167242083 single base substitution T A intron_variant BRCA-UK 3 167244674 167244674 single base substitution C A intron_variant BRCA-UK 3 167248986 167248986 single base substitution C T downstream_gene_variant BRCA-UK 3 167248986 167248986 single base substitution C T intron_variant BRCA-UK 3 167248986 167248986 single base substitution C T missense_variant R185H 554G>A BRCA-UK 3 167248986 167248986 single base substitution C T missense_variant R360H 1079G>A BRCA-UK 3 167248986 167248986 single base substitution C T missense_variant R424H 1271G>A BRCA-UK 3 167248986 167248986 single base substitution C T missense_variant R435H 1304G>A BRCA-UK 3 167248986 167248986 single base substitution C T upstream_gene_variant BRCA-UK 3 167251884 167251884 single base substitution G A intron_variant BRCA-UK 3 167251884 167251884 single base substitution G A upstream_gene_variant BRCA-UK 3 167262794 167262794 single base substitution T A intron_variant BRCA-UK 3 167275818 167275818 single base substitution G A intron_variant BRCA-UK 3 167281882 167281882 single base substitution C G intron_variant BRCA-UK 3 167287249 167287249 single base substitution A G intron_variant BRCA-UK 3 167291117 167291117 single base substitution G T intron_variant BRCA-UK 3 167296802 167296802 single base substitution G T intron_variant BRCA-UK 3 167296802 167296802 single base substitution G T upstream_gene_variant BRCA-UK 3 167324762 167324762 single base substitution G A intron_variant BRCA-UK 3 167325121 167325121 single base substitution C T intron_variant BRCA-UK 3 167327281 167327281 single base substitution G A intron_variant BRCA-UK 3 167346941 167346941 single base substitution G C intron_variant BRCA-UK 3 167373310 167373310 single base substitution C T upstream_gene_variant BRCA-US 3 167217996 167217996 deletion of <=200bp C - frameshift_variant R465 BRCA-US 3 167217996 167217996 deletion of <=200bp C - frameshift_variant R605 BRCA-US 3 167217996 167217996 deletion of <=200bp C - frameshift_variant R616 BRCA-US 3 167217996 167217996 deletion of <=200bp C - frameshift_variant R640 BRCA-US 3 167217996 167217996 deletion of <=200bp C - intron_variant BRCA-US 3 167223187 167223187 single base substitution T C intron_variant BRCA-US 3 167223187 167223187 single base substitution T C missense_variant D404G 1211A>G BRCA-US 3 167223187 167223187 single base substitution T C missense_variant D544G 1631A>G BRCA-US 3 167223187 167223187 single base substitution T C missense_variant D555G 1664A>G BRCA-US 3 167223187 167223187 single base substitution T C missense_variant D579G 1736A>G BRCA-US 3 167250737 167250737 single base substitution C A 3_prime_UTR_variant BRCA-US 3 167250737 167250737 single base substitution C A intron_variant BRCA-US 3 167250737 167250737 single base substitution C A missense_variant W134C 402G>T BRCA-US 3 167250737 167250737 single base substitution C A missense_variant W309C 927G>T BRCA-US 3 167250737 167250737 single base substitution C A missense_variant W373C 1119G>T BRCA-US 3 167250737 167250737 single base substitution C A missense_variant W384C 1152G>T BRCA-US 3 167250737 167250737 single base substitution C A upstream_gene_variant BRCA-US 3 167277883 167277883 single base substitution A C intron_variant BRCA-US 3 167277883 167277883 single base substitution A C missense_variant L100R 299T>G BRCA-US 3 167277883 167277883 single base substitution A C missense_variant L207R 620T>G BRCA-US 3 167277883 167277883 single base substitution A C missense_variant L260R 779T>G BRCA-US 3 167277883 167277883 single base substitution A C missense_variant L271R 812T>G BRCA-US 3 167277883 167277883 single base substitution A C missense_variant L32R 95T>G BRCA-US 3 167277905 167277905 deletion of <=200bp G - frameshift_variant L200 BRCA-US 3 167277905 167277905 deletion of <=200bp G - frameshift_variant L25 BRCA-US 3 167277905 167277905 deletion of <=200bp G - frameshift_variant L253 BRCA-US 3 167277905 167277905 deletion of <=200bp G - frameshift_variant L264 BRCA-US 3 167277905 167277905 deletion of <=200bp G - frameshift_variant L93 BRCA-US 3 167277905 167277905 deletion of <=200bp G - intron_variant BRCA-US 3 167293918 167293918 single base substitution G A 3_prime_UTR_variant BRCA-US 3 167293918 167293918 single base substitution G A intron_variant BRCA-US 3 167293918 167293918 single base substitution G A stop_gained Q145* 433C>T BRCA-US 3 167293918 167293918 single base substitution G A stop_gained Q156* 466C>T BRCA-US 3 167293918 167293918 single base substitution G A stop_gained Q433* 1297C>T BRCA-US 3 167293918 167293918 single base substitution G A stop_gained Q92* 274C>T BRCA-US 3 167293918 167293918 single base substitution G A upstream_gene_variant BRCA-US 3 167320043 167320043 single base substitution T G 3_prime_UTR_variant BRCA-US 3 167320043 167320043 single base substitution T G intron_variant BRCA-US 3 167320043 167320043 single base substitution T G missense_variant K106Q 316A>C BRCA-US 3 167320043 167320043 single base substitution T G missense_variant K383Q 1147A>C BRCA-US 3 167320043 167320043 single base substitution T G missense_variant K42Q 124A>C BRCA-US 3 167320043 167320043 single base substitution T G missense_variant K95Q 283A>C BRCA-US 3 167339312 167339312 single base substitution C A intron_variant BRCA-US 3 167339312 167339312 single base substitution C A missense_variant W242C 726G>T BRCA-US 3 167339312 167339312 single base substitution C A missense_variant W95C 285G>T BRCA-US 3 167339312 167339312 single base substitution C A upstream_gene_variant BTCA-JP 3 167218188 167218188 single base substitution A T intron_variant BTCA-JP 3 167250669 167250669 single base substitution A T downstream_gene_variant BTCA-JP 3 167250669 167250669 single base substitution A T intron_variant BTCA-JP 3 167250669 167250669 single base substitution A T stop_gained L157* 470T>A BTCA-JP 3 167250669 167250669 single base substitution A T stop_gained L332* 995T>A BTCA-JP 3 167250669 167250669 single base substitution A T stop_gained L396* 1187T>A BTCA-JP 3 167250669 167250669 single base substitution A T stop_gained L407* 1220T>A BTCA-JP 3 167250669 167250669 single base substitution A T upstream_gene_variant BTCA-JP 3 167254544 167254544 single base substitution C T intron_variant BTCA-JP 3 167254546 167254546 single base substitution T C intron_variant BTCA-JP 3 167293860 167293860 single base substitution C T 3_prime_UTR_variant BTCA-JP 3 167293860 167293860 single base substitution C T intron_variant BTCA-JP 3 167293860 167293860 single base substitution C T missense_variant R111K 332G>A BTCA-JP 3 167293860 167293860 single base substitution C T missense_variant R164K 491G>A BTCA-JP 3 167293860 167293860 single base substitution C T missense_variant R175K 524G>A BTCA-JP 3 167293860 167293860 single base substitution C T missense_variant R452K 1355G>A BTCA-JP 3 167293860 167293860 single base substitution C T upstream_gene_variant BTCA-JP 3 167338326 167338326 single base substitution T G 5_prime_UTR_variant BTCA-JP 3 167338326 167338326 single base substitution T G downstream_gene_variant BTCA-JP 3 167338326 167338326 single base substitution T G intron_variant BTCA-JP 3 167338326 167338326 single base substitution T G missense_variant E283D 849A>C BTCA-JP 3 167338326 167338326 single base substitution T G missense_variant E6D 18A>C BTCA-JP 3 167338346 167338346 single base substitution G A downstream_gene_variant BTCA-JP 3 167338346 167338346 single base substitution G A intron_variant BTCA-JP 3 167338346 167338346 single base substitution G A missense_variant R277W 829C>T BTCA-JP 3 167338346 167338346 single base substitution G A upstream_gene_variant BTCA-JP 3 167345001 167345001 single base substitution G A exon_variant BTCA-JP 3 167345001 167345001 single base substitution G A intron_variant BTCA-JP 3 167345001 167345001 single base substitution G A missense_variant T82M 245C>T CESC-US 3 167196719 167196719 single base substitution C A 3_prime_UTR_variant CESC-US 3 167196719 167196719 single base substitution C A missense_variant A506S 1516G>T CESC-US 3 167196719 167196719 single base substitution C A missense_variant A646S 1936G>T CESC-US 3 167196719 167196719 single base substitution C A missense_variant A657S 1969G>T CESC-US 3 167196719 167196719 single base substitution C A missense_variant A681S 2041G>T CESC-US 3 167217980 167217980 single base substitution C G intron_variant CESC-US 3 167217980 167217980 single base substitution C G missense_variant E471Q 1411G>C CESC-US 3 167217980 167217980 single base substitution C G missense_variant E611Q 1831G>C CESC-US 3 167217980 167217980 single base substitution C G missense_variant E622Q 1864G>C CESC-US 3 167217980 167217980 single base substitution C G missense_variant E646Q 1936G>C CESC-US 3 167293737 167293737 single base substitution G A 3_prime_UTR_variant CESC-US 3 167293737 167293737 single base substitution G A intron_variant CESC-US 3 167293737 167293737 single base substitution G A missense_variant T152I 455C>T CESC-US 3 167293737 167293737 single base substitution G A missense_variant T205I 614C>T CESC-US 3 167293737 167293737 single base substitution G A missense_variant T216I 647C>T CESC-US 3 167293737 167293737 single base substitution G A missense_variant T493I 1478C>T CESC-US 3 167293737 167293737 single base substitution G A upstream_gene_variant CLLE-ES 3 167195048 167195048 single base substitution C A downstream_gene_variant CLLE-ES 3 167199464 167199464 single base substitution G T intron_variant CLLE-ES 3 167200661 167200661 single base substitution A G intron_variant CLLE-ES 3 167213258 167213258 single base substitution C A intron_variant CLLE-ES 3 167216292 167216292 single base substitution A C intron_variant CLLE-ES 3 167217959 167217959 single base substitution C A intron_variant CLLE-ES 3 167217959 167217959 single base substitution C A missense_variant A478S 1432G>T CLLE-ES 3 167217959 167217959 single base substitution C A missense_variant A618S 1852G>T CLLE-ES 3 167217959 167217959 single base substitution C A missense_variant A629S 1885G>T CLLE-ES 3 167217959 167217959 single base substitution C A missense_variant A653S 1957G>T CLLE-ES 3 167226054 167226054 single base substitution T A intron_variant CLLE-ES 3 167259488 167259488 single base substitution C T intron_variant CLLE-ES 3 167272795 167272795 single base substitution T C intron_variant CLLE-ES 3 167283819 167283819 single base substitution T A intron_variant CLLE-ES 3 167286821 167286821 single base substitution C T intron_variant CLLE-ES 3 167307657 167307657 single base substitution A T intron_variant CLLE-ES 3 167307725 167307725 single base substitution A G intron_variant CLLE-ES 3 167327032 167327032 single base substitution T A intron_variant CLLE-ES 3 167329345 167329345 single base substitution C T intron_variant CLLE-ES 3 167333179 167333179 single base substitution C T intron_variant CLLE-ES 3 167334417 167334417 single base substitution A G downstream_gene_variant CLLE-ES 3 167334417 167334417 single base substitution A G intron_variant CLLE-ES 3 167338519 167338519 single base substitution G T downstream_gene_variant CLLE-ES 3 167338519 167338519 single base substitution G T intron_variant CLLE-ES 3 167338519 167338519 single base substitution G T upstream_gene_variant CLLE-ES 3 167361673 167361673 single base substitution A T intron_variant CLLE-ES 3 167362677 167362677 single base substitution G T intron_variant COAD-US 3 167196703 167196703 single base substitution T C 3_prime_UTR_variant COAD-US 3 167196703 167196703 single base substitution T C missense_variant Q511R 1532A>G COAD-US 3 167196703 167196703 single base substitution T C missense_variant Q651R 1952A>G COAD-US 3 167196703 167196703 single base substitution T C missense_variant Q662R 1985A>G COAD-US 3 167196703 167196703 single base substitution T C missense_variant Q686R 2057A>G COAD-US 3 167196711 167196711 single base substitution T G 3_prime_UTR_variant COAD-US 3 167196711 167196711 single base substitution T G missense_variant Q508H 1524A>C COAD-US 3 167196711 167196711 single base substitution T G missense_variant Q648H 1944A>C COAD-US 3 167196711 167196711 single base substitution T G missense_variant Q659H 1977A>C COAD-US 3 167196711 167196711 single base substitution T G missense_variant Q683H 2049A>C COAD-US 3 167217955 167217955 single base substitution G A intron_variant COAD-US 3 167217955 167217955 single base substitution G A missense_variant P479L 1436C>T COAD-US 3 167217955 167217955 single base substitution G A missense_variant P619L 1856C>T COAD-US 3 167217955 167217955 single base substitution G A missense_variant P630L 1889C>T COAD-US 3 167217955 167217955 single base substitution G A missense_variant P654L 1961C>T COAD-US 3 167217964 167217964 single base substitution A G intron_variant COAD-US 3 167217964 167217964 single base substitution A G missense_variant L476P 1427T>C COAD-US 3 167217964 167217964 single base substitution A G missense_variant L616P 1847T>C COAD-US 3 167217964 167217964 single base substitution A G missense_variant L627P 1880T>C COAD-US 3 167217964 167217964 single base substitution A G missense_variant L651P 1952T>C COAD-US 3 167218008 167218008 single base substitution C A intron_variant COAD-US 3 167218008 167218008 single base substitution C A missense_variant E461D 1383G>T COAD-US 3 167218008 167218008 single base substitution C A missense_variant E601D 1803G>T COAD-US 3 167218008 167218008 single base substitution C A missense_variant E612D 1836G>T COAD-US 3 167218008 167218008 single base substitution C A missense_variant E636D 1908G>T COAD-US 3 167218064 167218064 single base substitution C A intron_variant COAD-US 3 167218064 167218064 single base substitution C A stop_gained G443* 1327G>T COAD-US 3 167218064 167218064 single base substitution C A stop_gained G583* 1747G>T COAD-US 3 167218064 167218064 single base substitution C A stop_gained G594* 1780G>T COAD-US 3 167218064 167218064 single base substitution C A stop_gained G618* 1852G>T COAD-US 3 167223102 167223102 deletion of <=200bp T - frameshift_variant K432 COAD-US 3 167223102 167223102 deletion of <=200bp T - frameshift_variant K572 COAD-US 3 167223102 167223102 deletion of <=200bp T - frameshift_variant K583 COAD-US 3 167223102 167223102 deletion of <=200bp T - frameshift_variant K607 COAD-US 3 167223102 167223102 deletion of <=200bp T - intron_variant COAD-US 3 167245667 167245667 single base substitution C T intron_variant COAD-US 3 167245667 167245667 single base substitution C T missense_variant A322T 964G>A COAD-US 3 167245667 167245667 single base substitution C T missense_variant A497T 1489G>A COAD-US 3 167247001 167247001 single base substitution C A downstream_gene_variant COAD-US 3 167247001 167247001 single base substitution C A intron_variant COAD-US 3 167247001 167247001 single base substitution C A stop_gained G222* 664G>T COAD-US 3 167247001 167247001 single base substitution C A stop_gained G34* 100G>T COAD-US 3 167247001 167247001 single base substitution C A stop_gained G397* 1189G>T COAD-US 3 167247001 167247001 single base substitution C A stop_gained G461* 1381G>T COAD-US 3 167247001 167247001 single base substitution C A stop_gained G472* 1414G>T COAD-US 3 167250749 167250749 single base substitution T G 3_prime_UTR_variant COAD-US 3 167250749 167250749 single base substitution T G intron_variant COAD-US 3 167250749 167250749 single base substitution T G missense_variant E130D 390A>C COAD-US 3 167250749 167250749 single base substitution T G missense_variant E305D 915A>C COAD-US 3 167250749 167250749 single base substitution T G missense_variant E369D 1107A>C COAD-US 3 167250749 167250749 single base substitution T G missense_variant E380D 1140A>C COAD-US 3 167250749 167250749 single base substitution T G upstream_gene_variant COAD-US 3 167254729 167254729 single base substitution C A 3_prime_UTR_variant COAD-US 3 167254729 167254729 single base substitution C A intron_variant COAD-US 3 167254729 167254729 single base substitution C A missense_variant W101L 302G>T COAD-US 3 167254729 167254729 single base substitution C A missense_variant W276L 827G>T COAD-US 3 167254729 167254729 single base substitution C A missense_variant W340L 1019G>T COAD-US 3 167254729 167254729 single base substitution C A missense_variant W351L 1052G>T COAD-US 3 167272587 167272587 single base substitution C T intron_variant COAD-US 3 167272587 167272587 single base substitution C T splice_acceptor_variant COAD-US 3 167277926 167277926 single base substitution C T intron_variant COAD-US 3 167277926 167277926 single base substitution C T missense_variant A18T 52G>A COAD-US 3 167277926 167277926 single base substitution C T missense_variant A193T 577G>A COAD-US 3 167277926 167277926 single base substitution C T missense_variant A246T 736G>A COAD-US 3 167277926 167277926 single base substitution C T missense_variant A257T 769G>A COAD-US 3 167277926 167277926 single base substitution C T missense_variant A86T 256G>A COAD-US 3 167277927 167277927 single base substitution G A intron_variant COAD-US 3 167277927 167277927 single base substitution G A synonymous_variant N17N 51C>T COAD-US 3 167277927 167277927 single base substitution G A synonymous_variant N192N 576C>T COAD-US 3 167277927 167277927 single base substitution G A synonymous_variant N245N 735C>T COAD-US 3 167277927 167277927 single base substitution G A synonymous_variant N256N 768C>T COAD-US 3 167277927 167277927 single base substitution G A synonymous_variant N85N 255C>T COAD-US 3 167293907 167293907 single base substitution C T 3_prime_UTR_variant COAD-US 3 167293907 167293907 single base substitution C T intron_variant COAD-US 3 167293907 167293907 single base substitution C T synonymous_variant L148L 444G>A COAD-US 3 167293907 167293907 single base substitution C T synonymous_variant L159L 477G>A COAD-US 3 167293907 167293907 single base substitution C T synonymous_variant L436L 1308G>A COAD-US 3 167293907 167293907 single base substitution C T synonymous_variant L95L 285G>A COAD-US 3 167293907 167293907 single base substitution C T upstream_gene_variant COAD-US 3 167319914 167319914 single base substitution C T intron_variant COAD-US 3 167319914 167319914 single base substitution C T splice_donor_variant COAD-US 3 167322116 167322116 single base substitution C A 3_prime_UTR_variant COAD-US 3 167322116 167322116 single base substitution C A intron_variant COAD-US 3 167322116 167322116 single base substitution C A missense_variant D26Y 76G>T COAD-US 3 167322116 167322116 single base substitution C A missense_variant D367Y 1099G>T COAD-US 3 167322116 167322116 single base substitution C A missense_variant D79Y 235G>T COAD-US 3 167322116 167322116 single base substitution C A missense_variant D90Y 268G>T COAD-US 3 167322130 167322130 single base substitution C T 3_prime_UTR_variant COAD-US 3 167322130 167322130 single base substitution C T intron_variant COAD-US 3 167322130 167322130 single base substitution C T missense_variant G21D 62G>A COAD-US 3 167322130 167322130 single base substitution C T missense_variant G362D 1085G>A COAD-US 3 167322130 167322130 single base substitution C T missense_variant G74D 221G>A COAD-US 3 167322130 167322130 single base substitution C T missense_variant G85D 254G>A COAD-US 3 167322177 167322177 single base substitution C A 3_prime_UTR_variant COAD-US 3 167322177 167322177 single base substitution C A intron_variant COAD-US 3 167322177 167322177 single base substitution C A missense_variant E346D 1038G>T COAD-US 3 167322177 167322177 single base substitution C A missense_variant E58D 174G>T COAD-US 3 167322177 167322177 single base substitution C A missense_variant E5D 15G>T COAD-US 3 167322177 167322177 single base substitution C A missense_variant E69D 207G>T COCA-CN 3 167217980 167217980 single base substitution C A intron_variant COCA-CN 3 167217980 167217980 single base substitution C A stop_gained E471* 1411G>T COCA-CN 3 167217980 167217980 single base substitution C A stop_gained E611* 1831G>T COCA-CN 3 167217980 167217980 single base substitution C A stop_gained E622* 1864G>T COCA-CN 3 167217980 167217980 single base substitution C A stop_gained E646* 1936G>T COCA-CN 3 167218057 167218057 single base substitution A T intron_variant COCA-CN 3 167218057 167218057 single base substitution A T missense_variant L445Q 1334T>A COCA-CN 3 167218057 167218057 single base substitution A T missense_variant L585Q 1754T>A COCA-CN 3 167218057 167218057 single base substitution A T missense_variant L596Q 1787T>A COCA-CN 3 167218057 167218057 single base substitution A T missense_variant L620Q 1859T>A COCA-CN 3 167250665 167250665 single base substitution A G downstream_gene_variant COCA-CN 3 167250665 167250665 single base substitution A G intron_variant COCA-CN 3 167250665 167250665 single base substitution A G splice_donor_variant COCA-CN 3 167250665 167250665 single base substitution A G upstream_gene_variant COCA-CN 3 167277926 167277926 single base substitution C T intron_variant COCA-CN 3 167277926 167277926 single base substitution C T missense_variant A18T 52G>A COCA-CN 3 167277926 167277926 single base substitution C T missense_variant A193T 577G>A COCA-CN 3 167277926 167277926 single base substitution C T missense_variant A246T 736G>A COCA-CN 3 167277926 167277926 single base substitution C T missense_variant A257T 769G>A COCA-CN 3 167277926 167277926 single base substitution C T missense_variant A86T 256G>A COCA-CN 3 167277932 167277932 single base substitution C T intron_variant COCA-CN 3 167277932 167277932 single base substitution C T missense_variant G16S 46G>A COCA-CN 3 167277932 167277932 single base substitution C T missense_variant G191S 571G>A COCA-CN 3 167277932 167277932 single base substitution C T missense_variant G244S 730G>A COCA-CN 3 167277932 167277932 single base substitution C T missense_variant G255S 763G>A COCA-CN 3 167277932 167277932 single base substitution C T missense_variant G84S 250G>A COCA-CN 3 167285542 167285542 single base substitution C A intron_variant COCA-CN 3 167293166 167293166 single base substitution G A intron_variant COCA-CN 3 167293166 167293166 single base substitution G A upstream_gene_variant COCA-CN 3 167293780 167293780 single base substitution T G 3_prime_UTR_variant COCA-CN 3 167293780 167293780 single base substitution T G intron_variant COCA-CN 3 167293780 167293780 single base substitution T G missense_variant S138R 412A>C COCA-CN 3 167293780 167293780 single base substitution T G missense_variant S191R 571A>C COCA-CN 3 167293780 167293780 single base substitution T G missense_variant S202R 604A>C COCA-CN 3 167293780 167293780 single base substitution T G missense_variant S479R 1435A>C COCA-CN 3 167293780 167293780 single base substitution T G upstream_gene_variant COCA-CN 3 167293913 167293913 single base substitution G C 3_prime_UTR_variant COCA-CN 3 167293913 167293913 single base substitution G C intron_variant COCA-CN 3 167293913 167293913 single base substitution G C missense_variant H146Q 438C>G COCA-CN 3 167293913 167293913 single base substitution G C missense_variant H157Q 471C>G COCA-CN 3 167293913 167293913 single base substitution G C missense_variant H434Q 1302C>G COCA-CN 3 167293913 167293913 single base substitution G C missense_variant H93Q 279C>G COCA-CN 3 167293913 167293913 single base substitution G C upstream_gene_variant COCA-CN 3 167320033 167320033 single base substitution A C 3_prime_UTR_variant COCA-CN 3 167320033 167320033 single base substitution A C intron_variant COCA-CN 3 167320033 167320033 single base substitution A C missense_variant L109R 326T>G COCA-CN 3 167320033 167320033 single base substitution A C missense_variant L386R 1157T>G COCA-CN 3 167320033 167320033 single base substitution A C missense_variant L45R 134T>G COCA-CN 3 167320033 167320033 single base substitution A C missense_variant L98R 293T>G COCA-CN 3 167338185 167338185 single base substitution C A downstream_gene_variant COCA-CN 3 167338185 167338185 single base substitution C A intron_variant COCA-CN 3 167338345 167338345 single base substitution C T 5_prime_UTR_variant COCA-CN 3 167338345 167338345 single base substitution C T downstream_gene_variant COCA-CN 3 167338345 167338345 single base substitution C T intron_variant COCA-CN 3 167338345 167338345 single base substitution C T missense_variant R277Q 830G>A COCA-CN 3 167338381 167338381 single base substitution A G downstream_gene_variant COCA-CN 3 167338381 167338381 single base substitution A G intron_variant COCA-CN 3 167338381 167338381 single base substitution A G missense_variant I265T 794T>C COCA-CN 3 167338381 167338381 single base substitution A G upstream_gene_variant COCA-CN 3 167338451 167338451 single base substitution C A downstream_gene_variant COCA-CN 3 167338451 167338451 single base substitution C A intron_variant COCA-CN 3 167338451 167338451 single base substitution C A upstream_gene_variant COCA-CN 3 167339168 167339168 single base substitution T G downstream_gene_variant COCA-CN 3 167339168 167339168 single base substitution T G intron_variant COCA-CN 3 167339168 167339168 single base substitution T G upstream_gene_variant COCA-CN 3 167344623 167344623 single base substitution T G downstream_gene_variant COCA-CN 3 167344623 167344623 single base substitution T G intron_variant COCA-CN 3 167371272 167371272 single base substitution T G 5_prime_UTR_variant EOPC-DE 3 167194631 167194631 single base substitution C T downstream_gene_variant EOPC-DE 3 167240937 167240937 single base substitution C T intron_variant EOPC-DE 3 167256696 167256696 single base substitution G A intron_variant EOPC-DE 3 167278503 167278503 single base substitution C A intron_variant EOPC-DE 3 167283786 167283786 single base substitution G C intron_variant EOPC-DE 3 167314748 167314748 single base substitution A G intron_variant EOPC-DE 3 167327885 167327885 single base substitution C T intron_variant EOPC-DE 3 167330780 167330780 single base substitution G A intron_variant EOPC-DE 3 167340842 167340842 single base substitution T A downstream_gene_variant EOPC-DE 3 167340842 167340842 single base substitution T A intron_variant EOPC-DE 3 167340842 167340842 single base substitution T A upstream_gene_variant EOPC-DE 3 167347988 167347988 single base substitution G A intron_variant ESAD-UK 3 167191618 167191618 single base substitution G T downstream_gene_variant ESAD-UK 3 167192231 167192231 single base substitution C A downstream_gene_variant ESAD-UK 3 167192286 167192286 single base substitution A G downstream_gene_variant ESAD-UK 3 167192835 167192835 single base substitution T G downstream_gene_variant ESAD-UK 3 167192887 167192887 single base substitution T C downstream_gene_variant ESAD-UK 3 167192892 167192892 single base substitution T G downstream_gene_variant ESAD-UK 3 167193791 167193791 deletion of <=200bp T - downstream_gene_variant ESAD-UK 3 167194311 167194311 single base substitution G C downstream_gene_variant ESAD-UK 3 167194527 167194527 single base substitution T G downstream_gene_variant ESAD-UK 3 167194568 167194568 single base substitution G A downstream_gene_variant ESAD-UK 3 167194675 167194675 single base substitution C G downstream_gene_variant ESAD-UK 3 167194953 167194953 single base substitution T A downstream_gene_variant ESAD-UK 3 167195883 167195883 single base substitution T A downstream_gene_variant ESAD-UK 3 167196155 167196155 single base substitution A T downstream_gene_variant ESAD-UK 3 167196559 167196559 single base substitution A C 3_prime_UTR_variant ESAD-UK 3 167196749 167196749 single base substitution G A 3_prime_UTR_variant ESAD-UK 3 167196749 167196749 single base substitution G A missense_variant P496S 1486C>T ESAD-UK 3 167196749 167196749 single base substitution G A missense_variant P636S 1906C>T ESAD-UK 3 167196749 167196749 single base substitution G A missense_variant P647S 1939C>T ESAD-UK 3 167196749 167196749 single base substitution G A missense_variant P671S 2011C>T ESAD-UK 3 167196777 167196777 single base substitution T A 3_prime_UTR_variant ESAD-UK 3 167196777 167196777 single base substitution T A missense_variant K486N 1458A>T ESAD-UK 3 167196777 167196777 single base substitution T A missense_variant K626N 1878A>T ESAD-UK 3 167196777 167196777 single base substitution T A missense_variant K637N 1911A>T ESAD-UK 3 167196777 167196777 single base substitution T A missense_variant K661N 1983A>T ESAD-UK 3 167196976 167196976 single base substitution A C intron_variant ESAD-UK 3 167197232 167197232 single base substitution A G intron_variant ESAD-UK 3 167197655 167197655 single base substitution C T intron_variant ESAD-UK 3 167197812 167197812 single base substitution A G intron_variant ESAD-UK 3 167198764 167198764 single base substitution A G intron_variant ESAD-UK 3 167199072 167199072 single base substitution A C intron_variant ESAD-UK 3 167199710 167199710 single base substitution C A intron_variant ESAD-UK 3 167200267 167200267 single base substitution C A intron_variant ESAD-UK 3 167200324 167200324 single base substitution G A intron_variant ESAD-UK 3 167201082 167201082 single base substitution G C intron_variant ESAD-UK 3 167201358 167201358 single base substitution A T intron_variant ESAD-UK 3 167201394 167201394 single base substitution A T intron_variant ESAD-UK 3 167201918 167201918 single base substitution A G intron_variant ESAD-UK 3 167202588 167202588 single base substitution A C intron_variant ESAD-UK 3 167202668 167202668 single base substitution A C intron_variant ESAD-UK 3 167202803 167202803 insertion of <=200bp - A intron_variant ESAD-UK 3 167202915 167202915 single base substitution A C intron_variant ESAD-UK 3 167203107 167203107 single base substitution C A intron_variant ESAD-UK 3 167204861 167204861 single base substitution G T intron_variant ESAD-UK 3 167206438 167206438 single base substitution T G intron_variant ESAD-UK 3 167206494 167206500 deletion of <=200bp AGATGAA - intron_variant ESAD-UK 3 167206632 167206632 single base substitution T C intron_variant ESAD-UK 3 167206632 167206632 single base substitution T G intron_variant ESAD-UK 3 167206934 167206934 single base substitution T A intron_variant ESAD-UK 3 167207462 167207462 single base substitution C T intron_variant ESAD-UK 3 167207834 167207834 single base substitution T A intron_variant ESAD-UK 3 167208012 167208012 single base substitution T A intron_variant ESAD-UK 3 167208436 167208436 single base substitution T G intron_variant ESAD-UK 3 167209371 167209371 single base substitution C T intron_variant ESAD-UK 3 167209990 167209990 single base substitution C T intron_variant ESAD-UK 3 167210097 167210097 single base substitution G T intron_variant ESAD-UK 3 167210212 167210212 single base substitution T G intron_variant ESAD-UK 3 167210372 167210372 single base substitution T G intron_variant ESAD-UK 3 167210537 167210537 single base substitution T G intron_variant ESAD-UK 3 167211507 167211507 insertion of <=200bp - G intron_variant ESAD-UK 3 167211846 167211846 single base substitution T G intron_variant ESAD-UK 3 167212306 167212306 single base substitution A G intron_variant ESAD-UK 3 167212379 167212379 single base substitution A C intron_variant ESAD-UK 3 167212451 167212451 single base substitution G A intron_variant ESAD-UK 3 167212575 167212575 single base substitution T C intron_variant ESAD-UK 3 167212934 167212934 single base substitution A G intron_variant ESAD-UK 3 167213827 167213827 single base substitution A G intron_variant ESAD-UK 3 167213830 167213830 single base substitution T C intron_variant ESAD-UK 3 167213897 167213897 single base substitution A C intron_variant ESAD-UK 3 167215369 167215369 single base substitution A C intron_variant ESAD-UK 3 167216234 167216234 single base substitution T G intron_variant ESAD-UK 3 167216319 167216319 single base substitution A C intron_variant ESAD-UK 3 167217436 167217436 single base substitution G A intron_variant ESAD-UK 3 167217447 167217447 single base substitution T G intron_variant ESAD-UK 3 167218105 167218105 single base substitution T G intron_variant ESAD-UK 3 167218209 167218209 single base substitution G A intron_variant ESAD-UK 3 167218273 167218273 single base substitution C T intron_variant ESAD-UK 3 167218789 167218789 single base substitution A G intron_variant ESAD-UK 3 167218976 167218976 single base substitution C A intron_variant ESAD-UK 3 167219278 167219278 single base substitution A C intron_variant ESAD-UK 3 167219610 167219610 single base substitution T C intron_variant ESAD-UK 3 167219669 167219669 single base substitution A C intron_variant ESAD-UK 3 167220277 167220277 single base substitution T C intron_variant ESAD-UK 3 167220382 167220382 single base substitution T C intron_variant ESAD-UK 3 167220511 167220511 single base substitution A G intron_variant ESAD-UK 3 167220528 167220528 single base substitution A G intron_variant ESAD-UK 3 167221647 167221647 single base substitution T C intron_variant ESAD-UK 3 167221705 167221705 single base substitution G T intron_variant ESAD-UK 3 167222085 167222085 single base substitution A T intron_variant ESAD-UK 3 167223102 167223102 insertion of <=200bp - T frameshift_variant K432K? ESAD-UK 3 167223102 167223102 insertion of <=200bp - T frameshift_variant K572K? ESAD-UK 3 167223102 167223102 insertion of <=200bp - T frameshift_variant K583K? ESAD-UK 3 167223102 167223102 insertion of <=200bp - T frameshift_variant K607K? ESAD-UK 3 167223102 167223102 insertion of <=200bp - T intron_variant ESAD-UK 3 167223191 167223191 single base substitution C A intron_variant ESAD-UK 3 167223191 167223191 single base substitution C A stop_gained E403* 1207G>T ESAD-UK 3 167223191 167223191 single base substitution C A stop_gained E543* 1627G>T ESAD-UK 3 167223191 167223191 single base substitution C A stop_gained E554* 1660G>T ESAD-UK 3 167223191 167223191 single base substitution C A stop_gained E578* 1732G>T ESAD-UK 3 167223287 167223287 insertion of <=200bp - A intron_variant ESAD-UK 3 167223390 167223390 single base substitution C A intron_variant ESAD-UK 3 167223779 167223779 single base substitution T C intron_variant ESAD-UK 3 167223943 167223943 single base substitution C A intron_variant ESAD-UK 3 167224633 167224633 single base substitution A G intron_variant ESAD-UK 3 167224810 167224810 single base substitution T G intron_variant ESAD-UK 3 167224921 167224921 single base substitution A C intron_variant ESAD-UK 3 167225049 167225049 single base substitution T G intron_variant ESAD-UK 3 167225167 167225167 single base substitution A G intron_variant ESAD-UK 3 167225934 167225934 single base substitution A G intron_variant ESAD-UK 3 167226131 167226131 single base substitution A G intron_variant ESAD-UK 3 167226926 167226926 single base substitution A T intron_variant ESAD-UK 3 167227012 167227012 single base substitution T C intron_variant ESAD-UK 3 167227012 167227012 single base substitution T G intron_variant ESAD-UK 3 167227056 167227056 single base substitution G C intron_variant ESAD-UK 3 167227408 167227408 single base substitution C T intron_variant ESAD-UK 3 167227655 167227655 single base substitution A C intron_variant ESAD-UK 3 167227655 167227655 single base substitution A T intron_variant ESAD-UK 3 167228205 167228205 insertion of <=200bp - G intron_variant ESAD-UK 3 167228500 167228500 single base substitution T G intron_variant ESAD-UK 3 167228807 167228807 single base substitution T G intron_variant ESAD-UK 3 167228998 167228998 single base substitution T G intron_variant ESAD-UK 3 167229108 167229108 single base substitution T G intron_variant ESAD-UK 3 167229135 167229135 single base substitution G A intron_variant ESAD-UK 3 167229228 167229228 single base substitution A G intron_variant ESAD-UK 3 167229661 167229661 single base substitution G A intron_variant ESAD-UK 3 167230079 167230079 single base substitution T C intron_variant ESAD-UK 3 167230189 167230189 single base substitution A G intron_variant ESAD-UK 3 167230469 167230469 single base substitution C A intron_variant ESAD-UK 3 167230499 167230499 single base substitution G A intron_variant ESAD-UK 3 167230520 167230520 single base substitution T G intron_variant ESAD-UK 3 167230673 167230673 single base substitution A C intron_variant ESAD-UK 3 167230877 167230877 single base substitution A C intron_variant ESAD-UK 3 167231106 167231106 single base substitution A G intron_variant ESAD-UK 3 167231234 167231234 single base substitution A G intron_variant ESAD-UK 3 167231301 167231301 single base substitution A T intron_variant ESAD-UK 3 167231608 167231608 single base substitution G C intron_variant ESAD-UK 3 167231647 167231647 deletion of <=200bp A - intron_variant ESAD-UK 3 167231721 167231721 single base substitution C T intron_variant ESAD-UK 3 167231919 167231919 single base substitution T G intron_variant ESAD-UK 3 167231926 167231926 insertion of <=200bp - A intron_variant ESAD-UK 3 167231927 167231927 single base substitution A C intron_variant ESAD-UK 3 167232058 167232058 single base substitution G A intron_variant ESAD-UK 3 167232275 167232275 single base substitution C T intron_variant ESAD-UK 3 167232654 167232654 single base substitution T C intron_variant ESAD-UK 3 167234225 167234225 single base substitution T A intron_variant ESAD-UK 3 167235050 167235050 single base substitution T G intron_variant ESAD-UK 3 167235051 167235051 single base substitution T G intron_variant ESAD-UK 3 167235142 167235142 single base substitution A T downstream_gene_variant ESAD-UK 3 167235142 167235142 single base substitution A T intron_variant ESAD-UK 3 167235219 167235219 single base substitution T C downstream_gene_variant ESAD-UK 3 167235219 167235219 single base substitution T C intron_variant ESAD-UK 3 167235394 167235394 single base substitution T C downstream_gene_variant ESAD-UK 3 167235394 167235394 single base substitution T C intron_variant ESAD-UK 3 167235427 167235427 single base substitution A T downstream_gene_variant ESAD-UK 3 167235427 167235427 single base substitution A T intron_variant ESAD-UK 3 167236657 167236657 single base substitution T G downstream_gene_variant ESAD-UK 3 167236657 167236657 single base substitution T G intron_variant ESAD-UK 3 167236852 167236852 single base substitution A T downstream_gene_variant ESAD-UK 3 167236852 167236852 single base substitution A T intron_variant ESAD-UK 3 167237325 167237325 single base substitution G A downstream_gene_variant ESAD-UK 3 167237325 167237325 single base substitution G A intron_variant ESAD-UK 3 167237356 167237356 single base substitution A C downstream_gene_variant ESAD-UK 3 167237356 167237356 single base substitution A C intron_variant ESAD-UK 3 167237424 167237424 single base substitution G A downstream_gene_variant ESAD-UK 3 167237424 167237424 single base substitution G A intron_variant ESAD-UK 3 167237790 167237790 single base substitution A C downstream_gene_variant ESAD-UK 3 167237790 167237790 single base substitution A C intron_variant ESAD-UK 3 167237825 167237825 single base substitution C T downstream_gene_variant ESAD-UK 3 167237825 167237825 single base substitution C T intron_variant ESAD-UK 3 167237989 167237989 single base substitution C T downstream_gene_variant ESAD-UK 3 167237989 167237989 single base substitution C T intron_variant ESAD-UK 3 167238314 167238314 single base substitution C G downstream_gene_variant ESAD-UK 3 167238314 167238314 single base substitution C G intron_variant ESAD-UK 3 167238515 167238515 single base substitution A G downstream_gene_variant ESAD-UK 3 167238515 167238515 single base substitution A G intron_variant ESAD-UK 3 167238941 167238941 single base substitution A C downstream_gene_variant ESAD-UK 3 167238941 167238941 single base substitution A C intron_variant ESAD-UK 3 167239256 167239256 single base substitution G T downstream_gene_variant ESAD-UK 3 167239256 167239256 single base substitution G T intron_variant ESAD-UK 3 167239400 167239400 single base substitution A T downstream_gene_variant ESAD-UK 3 167239400 167239400 single base substitution A T intron_variant ESAD-UK 3 167240130 167240130 single base substitution T C intron_variant ESAD-UK 3 167240130 167240130 single base substitution T C missense_variant K135R 404A>G ESAD-UK 3 167240130 167240130 single base substitution T C missense_variant K389R 1166A>G ESAD-UK 3 167240130 167240130 single base substitution T C missense_variant K529R 1586A>G ESAD-UK 3 167240130 167240130 single base substitution T C missense_variant K540R 1619A>G ESAD-UK 3 167240130 167240130 single base substitution T C missense_variant K564R 1691A>G ESAD-UK 3 167240418 167240418 single base substitution A C intron_variant ESAD-UK 3 167241188 167241188 single base substitution C T intron_variant ESAD-UK 3 167241346 167241346 single base substitution C T intron_variant ESAD-UK 3 167241347 167241347 single base substitution G A intron_variant ESAD-UK 3 167241907 167241907 single base substitution G T intron_variant ESAD-UK 3 167241952 167241952 single base substitution T G intron_variant ESAD-UK 3 167241959 167241959 deletion of <=200bp T - intron_variant ESAD-UK 3 167241995 167241995 single base substitution T C intron_variant ESAD-UK 3 167242125 167242125 single base substitution T G intron_variant ESAD-UK 3 167242194 167242194 single base substitution T G intron_variant ESAD-UK 3 167242574 167242574 single base substitution C A intron_variant ESAD-UK 3 167242734 167242734 single base substitution G A intron_variant ESAD-UK 3 167242868 167242868 single base substitution C A intron_variant ESAD-UK 3 167242991 167242991 single base substitution T A intron_variant ESAD-UK 3 167243011 167243011 single base substitution A G intron_variant ESAD-UK 3 167243025 167243025 single base substitution G A intron_variant ESAD-UK 3 167243030 167243030 single base substitution T C intron_variant ESAD-UK 3 167243043 167243043 single base substitution T G intron_variant ESAD-UK 3 167243465 167243465 single base substitution G A intron_variant ESAD-UK 3 167243582 167243582 single base substitution A C intron_variant ESAD-UK 3 167244276 167244276 single base substitution G T intron_variant ESAD-UK 3 167244353 167244353 single base substitution T G intron_variant ESAD-UK 3 167244671 167244671 single base substitution A G intron_variant ESAD-UK 3 167245439 167245439 single base substitution T G intron_variant ESAD-UK 3 167245795 167245795 single base substitution A C downstream_gene_variant ESAD-UK 3 167245795 167245795 single base substitution A C intron_variant ESAD-UK 3 167245795 167245795 single base substitution A C missense_variant L279R 836T>G ESAD-UK 3 167245795 167245795 single base substitution A C missense_variant L454R 1361T>G ESAD-UK 3 167245795 167245795 single base substitution A G downstream_gene_variant ESAD-UK 3 167245795 167245795 single base substitution A G intron_variant ESAD-UK 3 167245795 167245795 single base substitution A G missense_variant L279P 836T>C ESAD-UK 3 167245795 167245795 single base substitution A G missense_variant L454P 1361T>C ESAD-UK 3 167246080 167246080 single base substitution G C downstream_gene_variant ESAD-UK 3 167246080 167246080 single base substitution G C intron_variant ESAD-UK 3 167246125 167246125 single base substitution A T downstream_gene_variant ESAD-UK 3 167246125 167246125 single base substitution A T intron_variant ESAD-UK 3 167246193 167246193 single base substitution A C downstream_gene_variant ESAD-UK 3 167246193 167246193 single base substitution A C intron_variant ESAD-UK 3 167246434 167246434 single base substitution A C downstream_gene_variant ESAD-UK 3 167246434 167246434 single base substitution A C intron_variant ESAD-UK 3 167246582 167246582 single base substitution T C downstream_gene_variant ESAD-UK 3 167246582 167246582 single base substitution T C intron_variant ESAD-UK 3 167246893 167246893 single base substitution G A downstream_gene_variant ESAD-UK 3 167246893 167246893 single base substitution G A intron_variant ESAD-UK 3 167246893 167246893 single base substitution G A stop_gained R258* 772C>T ESAD-UK 3 167246893 167246893 single base substitution G A stop_gained R433* 1297C>T ESAD-UK 3 167246893 167246893 single base substitution G A stop_gained R497* 1489C>T ESAD-UK 3 167246893 167246893 single base substitution G A stop_gained R508* 1522C>T ESAD-UK 3 167246893 167246893 single base substitution G A stop_gained R70* 208C>T ESAD-UK 3 167247122 167247122 single base substitution T C downstream_gene_variant ESAD-UK 3 167247122 167247122 single base substitution T C intron_variant ESAD-UK 3 167247997 167247997 single base substitution A T downstream_gene_variant ESAD-UK 3 167247997 167247997 single base substitution A T intron_variant ESAD-UK 3 167248981 167248981 single base substitution A C downstream_gene_variant ESAD-UK 3 167248981 167248981 single base substitution A C intron_variant ESAD-UK 3 167248981 167248981 single base substitution A C missense_variant F187V 559T>G ESAD-UK 3 167248981 167248981 single base substitution A C missense_variant F362V 1084T>G ESAD-UK 3 167248981 167248981 single base substitution A C missense_variant F426V 1276T>G ESAD-UK 3 167248981 167248981 single base substitution A C missense_variant F437V 1309T>G ESAD-UK 3 167248981 167248981 single base substitution A C upstream_gene_variant ESAD-UK 3 167249226 167249226 single base substitution T G downstream_gene_variant ESAD-UK 3 167249226 167249226 single base substitution T G intron_variant ESAD-UK 3 167249226 167249226 single base substitution T G upstream_gene_variant ESAD-UK 3 167249879 167249879 single base substitution C A downstream_gene_variant ESAD-UK 3 167249879 167249879 single base substitution C A intron_variant ESAD-UK 3 167249879 167249879 single base substitution C A upstream_gene_variant ESAD-UK 3 167249894 167249894 single base substitution A C downstream_gene_variant ESAD-UK 3 167249894 167249894 single base substitution A C intron_variant ESAD-UK 3 167249894 167249894 single base substitution A C upstream_gene_variant ESAD-UK 3 167249896 167249896 single base substitution T A downstream_gene_variant ESAD-UK 3 167249896 167249896 single base substitution T A intron_variant ESAD-UK 3 167249896 167249896 single base substitution T A upstream_gene_variant ESAD-UK 3 167249945 167249945 single base substitution A C downstream_gene_variant ESAD-UK 3 167249945 167249945 single base substitution A C intron_variant ESAD-UK 3 167249945 167249945 single base substitution A C upstream_gene_variant ESAD-UK 3 167249985 167249985 single base substitution A G downstream_gene_variant ESAD-UK 3 167249985 167249985 single base substitution A G intron_variant ESAD-UK 3 167249985 167249985 single base substitution A G upstream_gene_variant ESAD-UK 3 167251428 167251428 single base substitution A C intron_variant ESAD-UK 3 167251428 167251428 single base substitution A C upstream_gene_variant ESAD-UK 3 167251515 167251515 single base substitution A G intron_variant ESAD-UK 3 167251515 167251515 single base substitution A G upstream_gene_variant ESAD-UK 3 167251525 167251525 single base substitution A C intron_variant ESAD-UK 3 167251525 167251525 single base substitution A C upstream_gene_variant ESAD-UK 3 167251572 167251572 single base substitution T C intron_variant ESAD-UK 3 167251572 167251572 single base substitution T C upstream_gene_variant ESAD-UK 3 167251703 167251703 single base substitution A C intron_variant ESAD-UK 3 167251703 167251703 single base substitution A C upstream_gene_variant ESAD-UK 3 167251771 167251771 single base substitution T G intron_variant ESAD-UK 3 167251771 167251771 single base substitution T G upstream_gene_variant ESAD-UK 3 167251938 167251938 single base substitution A G intron_variant ESAD-UK 3 167251938 167251938 single base substitution A G upstream_gene_variant ESAD-UK 3 167252057 167252057 single base substitution C T intron_variant ESAD-UK 3 167252057 167252057 single base substitution C T upstream_gene_variant ESAD-UK 3 167252095 167252095 single base substitution G A intron_variant ESAD-UK 3 167252095 167252095 single base substitution G A upstream_gene_variant ESAD-UK 3 167252867 167252867 single base substitution T C intron_variant ESAD-UK 3 167252867 167252867 single base substitution T C upstream_gene_variant ESAD-UK 3 167252922 167252922 single base substitution A C intron_variant ESAD-UK 3 167252922 167252922 single base substitution A C upstream_gene_variant ESAD-UK 3 167253599 167253599 single base substitution A C intron_variant ESAD-UK 3 167253599 167253599 single base substitution A C upstream_gene_variant ESAD-UK 3 167253832 167253832 single base substitution A C intron_variant ESAD-UK 3 167253832 167253832 single base substitution A C upstream_gene_variant ESAD-UK 3 167253899 167253899 single base substitution G A intron_variant ESAD-UK 3 167253899 167253899 single base substitution G A upstream_gene_variant ESAD-UK 3 167253929 167253929 single base substitution A C intron_variant ESAD-UK 3 167253929 167253929 single base substitution A C upstream_gene_variant ESAD-UK 3 167253929 167253929 single base substitution A G intron_variant ESAD-UK 3 167253929 167253929 single base substitution A G upstream_gene_variant ESAD-UK 3 167253990 167253990 single base substitution C A intron_variant ESAD-UK 3 167255063 167255063 single base substitution T G intron_variant ESAD-UK 3 167255188 167255188 single base substitution A C intron_variant ESAD-UK 3 167255221 167255221 single base substitution T G intron_variant ESAD-UK 3 167255628 167255628 single base substitution A C intron_variant ESAD-UK 3 167255628 167255628 single base substitution A T intron_variant ESAD-UK 3 167256013 167256013 single base substitution C T intron_variant ESAD-UK 3 167256907 167256907 single base substitution A C intron_variant ESAD-UK 3 167256929 167256936 deletion of <=200bp TATTAAAA - intron_variant ESAD-UK 3 167256993 167256993 single base substitution G T intron_variant ESAD-UK 3 167257564 167257564 deletion of <=200bp T - intron_variant ESAD-UK 3 167257648 167257648 single base substitution T G intron_variant ESAD-UK 3 167257793 167257793 single base substitution A G intron_variant ESAD-UK 3 167257840 167257840 single base substitution T A intron_variant ESAD-UK 3 167258208 167258208 single base substitution C A intron_variant ESAD-UK 3 167258301 167258301 single base substitution G A intron_variant ESAD-UK 3 167258487 167258487 single base substitution A G intron_variant ESAD-UK 3 167258731 167258731 single base substitution G T intron_variant ESAD-UK 3 167259106 167259106 single base substitution A T intron_variant ESAD-UK 3 167259143 167259143 single base substitution A C intron_variant ESAD-UK 3 167259601 167259601 single base substitution T G intron_variant ESAD-UK 3 167259623 167259623 single base substitution T C intron_variant ESAD-UK 3 167259623 167259623 single base substitution T G intron_variant ESAD-UK 3 167260404 167260404 single base substitution A C intron_variant ESAD-UK 3 167260610 167260610 insertion of <=200bp - A intron_variant ESAD-UK 3 167261149 167261149 single base substitution C T intron_variant ESAD-UK 3 167261847 167261847 single base substitution C A intron_variant ESAD-UK 3 167261944 167261944 single base substitution G T intron_variant ESAD-UK 3 167262096 167262096 single base substitution A G intron_variant ESAD-UK 3 167262564 167262564 single base substitution T G intron_variant ESAD-UK 3 167262830 167262830 single base substitution A G intron_variant ESAD-UK 3 167263277 167263283 deletion of <=200bp TATATAT - intron_variant ESAD-UK 3 167263762 167263762 single base substitution G A intron_variant ESAD-UK 3 167263831 167263831 single base substitution A C intron_variant ESAD-UK 3 167264625 167264625 single base substitution A C intron_variant ESAD-UK 3 167264664 167264664 single base substitution G T intron_variant ESAD-UK 3 167264771 167264771 single base substitution A C intron_variant ESAD-UK 3 167264830 167264830 single base substitution T G intron_variant ESAD-UK 3 167265238 167265238 single base substitution C A intron_variant ESAD-UK 3 167265667 167265667 single base substitution T G intron_variant ESAD-UK 3 167265673 167265673 single base substitution G T intron_variant ESAD-UK 3 167265737 167265737 single base substitution G C intron_variant ESAD-UK 3 167265840 167265840 single base substitution A C intron_variant ESAD-UK 3 167265949 167265949 single base substitution T G intron_variant ESAD-UK 3 167267312 167267312 single base substitution G A intron_variant ESAD-UK 3 167267356 167267356 single base substitution A C intron_variant ESAD-UK 3 167268758 167268758 single base substitution C A downstream_gene_variant ESAD-UK 3 167268758 167268758 single base substitution C A intron_variant ESAD-UK 3 167268884 167268884 single base substitution A C downstream_gene_variant ESAD-UK 3 167268884 167268884 single base substitution A C intron_variant ESAD-UK 3 167268886 167268886 single base substitution T G downstream_gene_variant ESAD-UK 3 167268886 167268886 single base substitution T G intron_variant ESAD-UK 3 167269131 167269131 deletion of <=200bp A - downstream_gene_variant ESAD-UK 3 167269131 167269131 deletion of <=200bp A - intron_variant ESAD-UK 3 167269388 167269388 single base substitution C T downstream_gene_variant ESAD-UK 3 167269388 167269388 single base substitution C T intron_variant ESAD-UK 3 167269804 167269804 single base substitution A C downstream_gene_variant ESAD-UK 3 167269804 167269804 single base substitution A C intron_variant ESAD-UK 3 167270410 167270410 single base substitution G A downstream_gene_variant ESAD-UK 3 167270410 167270410 single base substitution G A intron_variant ESAD-UK 3 167270674 167270674 single base substitution A C downstream_gene_variant ESAD-UK 3 167270674 167270674 single base substitution A C intron_variant ESAD-UK 3 167270883 167270883 single base substitution G T downstream_gene_variant ESAD-UK 3 167270883 167270883 single base substitution G T intron_variant ESAD-UK 3 167271028 167271028 single base substitution C A downstream_gene_variant ESAD-UK 3 167271028 167271028 single base substitution C A intron_variant ESAD-UK 3 167271112 167271112 single base substitution A C downstream_gene_variant ESAD-UK 3 167271112 167271112 single base substitution A C intron_variant ESAD-UK 3 167271249 167271249 single base substitution T C downstream_gene_variant ESAD-UK 3 167271249 167271249 single base substitution T C intron_variant ESAD-UK 3 167271523 167271523 single base substitution A C downstream_gene_variant ESAD-UK 3 167271523 167271523 single base substitution A C intron_variant ESAD-UK 3 167271649 167271649 single base substitution G T downstream_gene_variant ESAD-UK 3 167271649 167271649 single base substitution G T intron_variant ESAD-UK 3 167271816 167271816 single base substitution T C downstream_gene_variant ESAD-UK 3 167271816 167271816 single base substitution T C intron_variant ESAD-UK 3 167271960 167271960 single base substitution A C downstream_gene_variant ESAD-UK 3 167271960 167271960 single base substitution A C intron_variant ESAD-UK 3 167272169 167272169 single base substitution T C downstream_gene_variant ESAD-UK 3 167272169 167272169 single base substitution T C intron_variant ESAD-UK 3 167272281 167272281 single base substitution T G downstream_gene_variant ESAD-UK 3 167272281 167272281 single base substitution T G intron_variant ESAD-UK 3 167272538 167272538 single base substitution C T downstream_gene_variant ESAD-UK 3 167272538 167272538 single base substitution C T intron_variant ESAD-UK 3 167272538 167272538 single base substitution C T missense_variant D234N 700G>A ESAD-UK 3 167272538 167272538 single base substitution C T missense_variant D287N 859G>A ESAD-UK 3 167272538 167272538 single base substitution C T missense_variant D298N 892G>A ESAD-UK 3 167272538 167272538 single base substitution C T missense_variant D59N 175G>A ESAD-UK 3 167272586 167272586 single base substitution T C intron_variant ESAD-UK 3 167272586 167272586 single base substitution T C missense_variant I111V 331A>G ESAD-UK 3 167272586 167272586 single base substitution T C missense_variant I218V 652A>G ESAD-UK 3 167272586 167272586 single base substitution T C missense_variant I271V 811A>G ESAD-UK 3 167272586 167272586 single base substitution T C missense_variant I282V 844A>G ESAD-UK 3 167272586 167272586 single base substitution T C missense_variant I43V 127A>G ESAD-UK 3 167272631 167272631 single base substitution T G intron_variant ESAD-UK 3 167273146 167273146 single base substitution C A intron_variant ESAD-UK 3 167273957 167273957 single base substitution A C intron_variant ESAD-UK 3 167274020 167274020 single base substitution G T intron_variant ESAD-UK 3 167274080 167274080 single base substitution A C intron_variant ESAD-UK 3 167274261 167274261 single base substitution T C intron_variant ESAD-UK 3 167274261 167274261 single base substitution T G intron_variant ESAD-UK 3 167274389 167274389 single base substitution G A intron_variant ESAD-UK 3 167274537 167274537 single base substitution G A intron_variant ESAD-UK 3 167274865 167274865 single base substitution A C intron_variant ESAD-UK 3 167275286 167275286 single base substitution C T intron_variant ESAD-UK 3 167275872 167275872 single base substitution C A intron_variant ESAD-UK 3 167276121 167276121 single base substitution T A intron_variant ESAD-UK 3 167276748 167276748 single base substitution G A intron_variant ESAD-UK 3 167276765 167276765 single base substitution A G intron_variant ESAD-UK 3 167276805 167276805 single base substitution T C intron_variant ESAD-UK 3 167277233 167277233 single base substitution A G intron_variant ESAD-UK 3 167277429 167277429 single base substitution T C intron_variant ESAD-UK 3 167277589 167277589 single base substitution A G intron_variant ESAD-UK 3 167277983 167277983 single base substitution A G 5_prime_UTR_variant ESAD-UK 3 167277983 167277983 single base substitution A G intron_variant ESAD-UK 3 167277983 167277983 single base substitution A G missense_variant F174L 520T>C ESAD-UK 3 167277983 167277983 single base substitution A G missense_variant F227L 679T>C ESAD-UK 3 167277983 167277983 single base substitution A G missense_variant F238L 712T>C ESAD-UK 3 167277983 167277983 single base substitution A G missense_variant F67L 199T>C ESAD-UK 3 167278381 167278381 single base substitution G A intron_variant ESAD-UK 3 167278413 167278413 single base substitution A C intron_variant ESAD-UK 3 167279302 167279302 single base substitution A C intron_variant ESAD-UK 3 167279360 167279360 single base substitution A C intron_variant ESAD-UK 3 167279419 167279419 single base substitution A G intron_variant ESAD-UK 3 167279962 167279962 single base substitution T C intron_variant ESAD-UK 3 167280127 167280127 single base substitution G A intron_variant ESAD-UK 3 167281530 167281530 single base substitution T G intron_variant ESAD-UK 3 167281706 167281706 single base substitution A C intron_variant ESAD-UK 3 167282023 167282023 single base substitution C T intron_variant ESAD-UK 3 167282397 167282397 single base substitution G T intron_variant ESAD-UK 3 167282573 167282573 single base substitution C A intron_variant ESAD-UK 3 167283214 167283214 single base substitution G T intron_variant ESAD-UK 3 167283247 167283247 insertion of <=200bp - TA intron_variant ESAD-UK 3 167283511 167283511 single base substitution C G intron_variant ESAD-UK 3 167283770 167283770 single base substitution A G intron_variant ESAD-UK 3 167284112 167284112 single base substitution G A intron_variant ESAD-UK 3 167284221 167284221 single base substitution G A intron_variant ESAD-UK 3 167284776 167284776 single base substitution G A intron_variant ESAD-UK 3 167285517 167285517 single base substitution A C intron_variant ESAD-UK 3 167285517 167285517 single base substitution A G intron_variant ESAD-UK 3 167285521 167285521 single base substitution G T intron_variant ESAD-UK 3 167285543 167285543 single base substitution T G intron_variant ESAD-UK 3 167285550 167285550 single base substitution C A intron_variant ESAD-UK 3 167286493 167286493 single base substitution T G intron_variant ESAD-UK 3 167286798 167286798 single base substitution T G intron_variant ESAD-UK 3 167286898 167286898 single base substitution T G intron_variant ESAD-UK 3 167287121 167287121 single base substitution A C intron_variant ESAD-UK 3 167287152 167287152 single base substitution A G intron_variant ESAD-UK 3 167287157 167287157 single base substitution T G intron_variant ESAD-UK 3 167287164 167287164 single base substitution T G intron_variant ESAD-UK 3 167287206 167287206 single base substitution T G intron_variant ESAD-UK 3 167287240 167287240 single base substitution G C intron_variant ESAD-UK 3 167287268 167287268 single base substitution C T intron_variant ESAD-UK 3 167289044 167289044 single base substitution A G intron_variant ESAD-UK 3 167289619 167289619 deletion of <=200bp A - intron_variant ESAD-UK 3 167289620 167289620 single base substitution A C intron_variant ESAD-UK 3 167289641 167289641 single base substitution T C intron_variant ESAD-UK 3 167289649 167289649 single base substitution A G intron_variant ESAD-UK 3 167289650 167289650 single base substitution A C intron_variant ESAD-UK 3 167289652 167289652 single base substitution T G intron_variant ESAD-UK 3 167289865 167289865 single base substitution A C intron_variant ESAD-UK 3 167290205 167290205 single base substitution A C intron_variant ESAD-UK 3 167290349 167290349 single base substitution T G intron_variant ESAD-UK 3 167290370 167290370 single base substitution A C intron_variant ESAD-UK 3 167290562 167290562 single base substitution A C intron_variant ESAD-UK 3 167290576 167290576 single base substitution G T intron_variant ESAD-UK 3 167291113 167291113 single base substitution T G intron_variant ESAD-UK 3 167291292 167291292 single base substitution A C intron_variant ESAD-UK 3 167291380 167291380 single base substitution T C intron_variant ESAD-UK 3 167291555 167291555 single base substitution C T intron_variant ESAD-UK 3 167291601 167291601 single base substitution T C intron_variant ESAD-UK 3 167292072 167292072 single base substitution A G intron_variant ESAD-UK 3 167292156 167292156 single base substitution T G intron_variant ESAD-UK 3 167292504 167292504 single base substitution T A intron_variant ESAD-UK 3 167292504 167292504 single base substitution T C intron_variant ESAD-UK 3 167292515 167292515 single base substitution C A intron_variant ESAD-UK 3 167293084 167293084 single base substitution C A intron_variant ESAD-UK 3 167293084 167293084 single base substitution C A upstream_gene_variant ESAD-UK 3 167293616 167293616 single base substitution T A intron_variant ESAD-UK 3 167293616 167293616 single base substitution T A upstream_gene_variant ESAD-UK 3 167294343 167294343 single base substitution T A intron_variant ESAD-UK 3 167294343 167294343 single base substitution T A upstream_gene_variant ESAD-UK 3 167295135 167295135 single base substitution T A intron_variant ESAD-UK 3 167295135 167295135 single base substitution T A upstream_gene_variant ESAD-UK 3 167295274 167295274 single base substitution C T intron_variant ESAD-UK 3 167295274 167295274 single base substitution C T upstream_gene_variant ESAD-UK 3 167295366 167295366 single base substitution G A intron_variant ESAD-UK 3 167295366 167295366 single base substitution G A upstream_gene_variant ESAD-UK 3 167296648 167296648 single base substitution A C intron_variant ESAD-UK 3 167296648 167296648 single base substitution A C upstream_gene_variant ESAD-UK 3 167296829 167296829 single base substitution T G intron_variant ESAD-UK 3 167296829 167296829 single base substitution T G upstream_gene_variant ESAD-UK 3 167297122 167297122 single base substitution C G intron_variant ESAD-UK 3 167297122 167297122 single base substitution C G upstream_gene_variant ESAD-UK 3 167298595 167298595 single base substitution G C intron_variant ESAD-UK 3 167298821 167298821 single base substitution A C intron_variant ESAD-UK 3 167298912 167298912 single base substitution A C intron_variant ESAD-UK 3 167298943 167298943 single base substitution T G intron_variant ESAD-UK 3 167299070 167299070 single base substitution T C intron_variant ESAD-UK 3 167299453 167299453 single base substitution A G intron_variant ESAD-UK 3 167300317 167300317 single base substitution A G intron_variant ESAD-UK 3 167301320 167301320 deletion of <=200bp A - intron_variant ESAD-UK 3 167301320 167301320 insertion of <=200bp - A intron_variant ESAD-UK 3 167301324 167301324 single base substitution A C intron_variant ESAD-UK 3 167301577 167301577 single base substitution T A intron_variant ESAD-UK 3 167302271 167302271 single base substitution G T intron_variant ESAD-UK 3 167302478 167302478 single base substitution A G intron_variant ESAD-UK 3 167302520 167302520 single base substitution A C intron_variant ESAD-UK 3 167303289 167303289 single base substitution A G intron_variant ESAD-UK 3 167303309 167303309 single base substitution A C intron_variant ESAD-UK 3 167303326 167303326 deletion of <=200bp A - intron_variant ESAD-UK 3 167305097 167305097 single base substitution A G intron_variant ESAD-UK 3 167305269 167305269 deletion of <=200bp T - intron_variant ESAD-UK 3 167305762 167305762 single base substitution T C intron_variant ESAD-UK 3 167305786 167305786 deletion of <=200bp T - intron_variant ESAD-UK 3 167305832 167305832 single base substitution T G intron_variant ESAD-UK 3 167305846 167305846 single base substitution T G intron_variant ESAD-UK 3 167305947 167305947 single base substitution T G intron_variant ESAD-UK 3 167306125 167306125 single base substitution T G intron_variant ESAD-UK 3 167306626 167306626 single base substitution T A intron_variant ESAD-UK 3 167307747 167307747 single base substitution A C intron_variant ESAD-UK 3 167307945 167307945 single base substitution G A intron_variant ESAD-UK 3 167308582 167308582 deletion of <=200bp T - intron_variant ESAD-UK 3 167308640 167308640 single base substitution T A intron_variant ESAD-UK 3 167308641 167308644 deletion of <=200bp TTTG - intron_variant ESAD-UK 3 167309874 167309874 single base substitution A G intron_variant ESAD-UK 3 167309933 167309933 single base substitution C T intron_variant ESAD-UK 3 167310028 167310028 single base substitution T A intron_variant ESAD-UK 3 167310030 167310030 single base substitution C A intron_variant ESAD-UK 3 167310125 167310125 single base substitution A G intron_variant ESAD-UK 3 167310263 167310263 single base substitution G A intron_variant ESAD-UK 3 167310656 167310656 single base substitution G T intron_variant ESAD-UK 3 167310884 167310884 single base substitution T C intron_variant ESAD-UK 3 167311057 167311057 single base substitution T G intron_variant ESAD-UK 3 167311676 167311676 single base substitution A C intron_variant ESAD-UK 3 167311844 167311844 single base substitution A G intron_variant ESAD-UK 3 167311990 167311990 single base substitution A G intron_variant ESAD-UK 3 167312027 167312027 single base substitution A C intron_variant ESAD-UK 3 167312065 167312065 single base substitution G T intron_variant ESAD-UK 3 167312231 167312231 single base substitution T G intron_variant ESAD-UK 3 167312337 167312337 single base substitution A G intron_variant ESAD-UK 3 167312396 167312396 single base substitution A T intron_variant ESAD-UK 3 167314659 167314662 deletion of <=200bp AATA - intron_variant ESAD-UK 3 167314920 167314920 single base substitution T C intron_variant ESAD-UK 3 167314942 167314942 single base substitution T C intron_variant ESAD-UK 3 167315310 167315310 single base substitution T C intron_variant ESAD-UK 3 167316112 167316112 single base substitution G T intron_variant ESAD-UK 3 167316303 167316303 single base substitution T C intron_variant ESAD-UK 3 167316334 167316334 single base substitution A T intron_variant ESAD-UK 3 167316953 167316953 single base substitution T G intron_variant ESAD-UK 3 167317300 167317300 single base substitution A C intron_variant ESAD-UK 3 167317481 167317481 single base substitution A C intron_variant ESAD-UK 3 167317646 167317646 single base substitution A G intron_variant ESAD-UK 3 167317968 167317968 single base substitution G T intron_variant ESAD-UK 3 167318236 167318236 single base substitution A C intron_variant ESAD-UK 3 167319043 167319043 single base substitution A C intron_variant ESAD-UK 3 167319043 167319043 single base substitution A G intron_variant ESAD-UK 3 167319068 167319068 single base substitution A C intron_variant ESAD-UK 3 167319695 167319695 single base substitution G T intron_variant ESAD-UK 3 167320700 167320700 single base substitution A C intron_variant ESAD-UK 3 167321663 167321663 single base substitution G A intron_variant ESAD-UK 3 167322046 167322046 single base substitution T G intron_variant ESAD-UK 3 167322883 167322883 single base substitution T C intron_variant ESAD-UK 3 167322958 167322958 single base substitution A C intron_variant ESAD-UK 3 167323274 167323274 single base substitution A C intron_variant ESAD-UK 3 167323321 167323321 single base substitution T G intron_variant ESAD-UK 3 167323676 167323676 single base substitution A C intron_variant ESAD-UK 3 167323676 167323676 single base substitution A G intron_variant ESAD-UK 3 167323965 167323965 single base substitution A G intron_variant ESAD-UK 3 167323993 167323993 single base substitution A C intron_variant ESAD-UK 3 167324557 167324557 single base substitution T G intron_variant ESAD-UK 3 167325708 167325727 deletion of <=200bp GGAGGGAGGAAAAAAGGGAC - intron_variant ESAD-UK 3 167325989 167325989 single base substitution G A intron_variant ESAD-UK 3 167326410 167326410 single base substitution A T intron_variant ESAD-UK 3 167326477 167326477 single base substitution A T intron_variant ESAD-UK 3 167326575 167326575 single base substitution A C intron_variant ESAD-UK 3 167326680 167326680 single base substitution A G intron_variant ESAD-UK 3 167326864 167326864 single base substitution A G intron_variant ESAD-UK 3 167326871 167326871 single base substitution G C intron_variant ESAD-UK 3 167326933 167326933 single base substitution A C intron_variant ESAD-UK 3 167327013 167327013 single base substitution A T intron_variant ESAD-UK 3 167327714 167327714 single base substitution T G intron_variant ESAD-UK 3 167328042 167328042 single base substitution A G intron_variant ESAD-UK 3 167328046 167328046 single base substitution T G intron_variant ESAD-UK 3 167328126 167328126 single base substitution A G intron_variant ESAD-UK 3 167328169 167328169 single base substitution G A intron_variant ESAD-UK 3 167328280 167328280 single base substitution T C intron_variant ESAD-UK 3 167328312 167328312 single base substitution G C intron_variant ESAD-UK 3 167328381 167328381 single base substitution A G intron_variant ESAD-UK 3 167329028 167329028 single base substitution T C intron_variant ESAD-UK 3 167329938 167329938 single base substitution G A intron_variant ESAD-UK 3 167330160 167330160 single base substitution A T intron_variant ESAD-UK 3 167330369 167330369 deletion of <=200bp A - intron_variant ESAD-UK 3 167330544 167330544 single base substitution T A intron_variant ESAD-UK 3 167331240 167331240 single base substitution T G intron_variant ESAD-UK 3 167331341 167331341 single base substitution T G intron_variant ESAD-UK 3 167331896 167331896 single base substitution G A intron_variant ESAD-UK 3 167332035 167332035 single base substitution G A intron_variant ESAD-UK 3 167332188 167332188 single base substitution T G intron_variant ESAD-UK 3 167332371 167332371 single base substitution A C intron_variant ESAD-UK 3 167333099 167333099 deletion of <=200bp T - intron_variant ESAD-UK 3 167333203 167333203 single base substitution C T intron_variant ESAD-UK 3 167333464 167333464 insertion of <=200bp - A intron_variant ESAD-UK 3 167333832 167333832 single base substitution A C intron_variant ESAD-UK 3 167335473 167335473 single base substitution A T downstream_gene_variant ESAD-UK 3 167335473 167335473 single base substitution A T intron_variant ESAD-UK 3 167335710 167335710 single base substitution T G downstream_gene_variant ESAD-UK 3 167335710 167335710 single base substitution T G intron_variant ESAD-UK 3 167336071 167336071 single base substitution A T downstream_gene_variant ESAD-UK 3 167336071 167336071 single base substitution A T intron_variant ESAD-UK 3 167336333 167336333 single base substitution A T downstream_gene_variant ESAD-UK 3 167336333 167336333 single base substitution A T intron_variant ESAD-UK 3 167336342 167336342 single base substitution A T downstream_gene_variant ESAD-UK 3 167336342 167336342 single base substitution A T intron_variant ESAD-UK 3 167336658 167336658 single base substitution A C downstream_gene_variant ESAD-UK 3 167336658 167336658 single base substitution A C intron_variant ESAD-UK 3 167337128 167337128 single base substitution T G downstream_gene_variant ESAD-UK 3 167337128 167337128 single base substitution T G intron_variant ESAD-UK 3 167337287 167337287 single base substitution T A downstream_gene_variant ESAD-UK 3 167337287 167337287 single base substitution T A intron_variant ESAD-UK 3 167337657 167337657 single base substitution A C downstream_gene_variant ESAD-UK 3 167337657 167337657 single base substitution A C intron_variant ESAD-UK 3 167339041 167339041 insertion of <=200bp - A downstream_gene_variant ESAD-UK 3 167339041 167339041 insertion of <=200bp - A intron_variant ESAD-UK 3 167339041 167339041 insertion of <=200bp - A upstream_gene_variant ESAD-UK 3 167339838 167339838 single base substitution A T intron_variant ESAD-UK 3 167339838 167339838 single base substitution A T upstream_gene_variant ESAD-UK 3 167340145 167340145 single base substitution T G downstream_gene_variant ESAD-UK 3 167340145 167340145 single base substitution T G intron_variant ESAD-UK 3 167340145 167340145 single base substitution T G upstream_gene_variant ESAD-UK 3 167340655 167340655 single base substitution T C downstream_gene_variant ESAD-UK 3 167340655 167340655 single base substitution T C intron_variant ESAD-UK 3 167340655 167340655 single base substitution T C upstream_gene_variant ESAD-UK 3 167341665 167341665 single base substitution T G downstream_gene_variant ESAD-UK 3 167341665 167341665 single base substitution T G intron_variant ESAD-UK 3 167341665 167341665 single base substitution T G upstream_gene_variant ESAD-UK 3 167342074 167342074 deletion of <=200bp A - downstream_gene_variant ESAD-UK 3 167342074 167342074 deletion of <=200bp A - intron_variant ESAD-UK 3 167342074 167342074 deletion of <=200bp A - upstream_gene_variant ESAD-UK 3 167342369 167342369 single base substitution C G downstream_gene_variant ESAD-UK 3 167342369 167342369 single base substitution C G intron_variant ESAD-UK 3 167342369 167342369 single base substitution C G upstream_gene_variant ESAD-UK 3 167343558 167343558 single base substitution T G downstream_gene_variant ESAD-UK 3 167343558 167343558 single base substitution T G intron_variant ESAD-UK 3 167344109 167344109 single base substitution A C downstream_gene_variant ESAD-UK 3 167344109 167344109 single base substitution A C intron_variant ESAD-UK 3 167344591 167344591 single base substitution A C downstream_gene_variant ESAD-UK 3 167344591 167344591 single base substitution A C intron_variant ESAD-UK 3 167344748 167344748 single base substitution G T downstream_gene_variant ESAD-UK 3 167344748 167344748 single base substitution G T intron_variant ESAD-UK 3 167344748 167344748 single base substitution G T synonymous_variant I166I 498C>A ESAD-UK 3 167345060 167345060 single base substitution G T exon_variant ESAD-UK 3 167345060 167345060 single base substitution G T intron_variant ESAD-UK 3 167345060 167345060 single base substitution G T synonymous_variant I62I 186C>A ESAD-UK 3 167345239 167345239 single base substitution T C intron_variant ESAD-UK 3 167345790 167345790 single base substitution G T intron_variant ESAD-UK 3 167346005 167346005 single base substitution A G intron_variant ESAD-UK 3 167346034 167346034 single base substitution A C intron_variant ESAD-UK 3 167346347 167346347 insertion of <=200bp - A intron_variant ESAD-UK 3 167346381 167346381 single base substitution G C intron_variant ESAD-UK 3 167347018 167347018 single base substitution C A intron_variant ESAD-UK 3 167347491 167347491 single base substitution T C intron_variant ESAD-UK 3 167347943 167347943 single base substitution T A intron_variant ESAD-UK 3 167348066 167348066 single base substitution C T intron_variant ESAD-UK 3 167348101 167348101 single base substitution C T intron_variant ESAD-UK 3 167348122 167348122 single base substitution A G intron_variant ESAD-UK 3 167348290 167348290 single base substitution G A intron_variant ESAD-UK 3 167348705 167348705 single base substitution T G intron_variant ESAD-UK 3 167349020 167349020 single base substitution G A intron_variant ESAD-UK 3 167349168 167349168 single base substitution G C intron_variant ESAD-UK 3 167350306 167350307 deletion of <=200bp TA - intron_variant ESAD-UK 3 167350994 167350994 single base substitution C T intron_variant ESAD-UK 3 167351340 167351340 single base substitution A C intron_variant ESAD-UK 3 167351719 167351719 single base substitution A C intron_variant ESAD-UK 3 167353010 167353010 single base substitution A G intron_variant ESAD-UK 3 167353504 167353504 single base substitution A C intron_variant ESAD-UK 3 167353739 167353739 single base substitution A G intron_variant ESAD-UK 3 167353810 167353810 single base substitution A C intron_variant ESAD-UK 3 167355081 167355081 single base substitution A G intron_variant ESAD-UK 3 167355594 167355594 single base substitution C A intron_variant ESAD-UK 3 167355609 167355609 single base substitution A C intron_variant ESAD-UK 3 167355926 167355926 single base substitution A C intron_variant ESAD-UK 3 167356736 167356736 single base substitution A C intron_variant ESAD-UK 3 167356797 167356797 single base substitution G A intron_variant ESAD-UK 3 167357046 167357046 single base substitution A C intron_variant ESAD-UK 3 167357233 167357233 single base substitution T G intron_variant ESAD-UK 3 167357443 167357443 single base substitution A T intron_variant ESAD-UK 3 167357503 167357503 single base substitution A C intron_variant ESAD-UK 3 167358146 167358146 single base substitution G A intron_variant ESAD-UK 3 167358528 167358528 single base substitution G A intron_variant ESAD-UK 3 167358539 167358539 deletion of <=200bp T - intron_variant ESAD-UK 3 167358559 167358559 single base substitution G C intron_variant ESAD-UK 3 167358763 167358763 single base substitution G A intron_variant ESAD-UK 3 167359040 167359040 single base substitution T A intron_variant ESAD-UK 3 167359051 167359051 single base substitution G C intron_variant ESAD-UK 3 167359146 167359146 single base substitution T A intron_variant ESAD-UK 3 167359292 167359292 single base substitution T G intron_variant ESAD-UK 3 167359612 167359612 single base substitution C T intron_variant ESAD-UK 3 167360173 167360173 single base substitution C G intron_variant ESAD-UK 3 167360280 167360280 single base substitution A C intron_variant ESAD-UK 3 167361079 167361079 single base substitution G A intron_variant ESAD-UK 3 167361422 167361422 single base substitution A G intron_variant ESAD-UK 3 167362706 167362706 single base substitution A C intron_variant ESAD-UK 3 167363865 167363865 single base substitution A G intron_variant ESAD-UK 3 167364483 167364483 single base substitution A C intron_variant ESAD-UK 3 167364623 167364623 single base substitution G A intron_variant ESAD-UK 3 167364729 167364729 single base substitution C A intron_variant ESAD-UK 3 167364824 167364824 single base substitution A C intron_variant ESAD-UK 3 167365406 167365406 single base substitution T A intron_variant ESAD-UK 3 167366481 167366481 single base substitution A G intron_variant ESAD-UK 3 167367803 167367803 single base substitution C G intron_variant ESAD-UK 3 167367871 167367871 single base substitution G T intron_variant ESAD-UK 3 167368241 167368241 single base substitution C A intron_variant ESAD-UK 3 167368690 167368690 single base substitution G A intron_variant ESAD-UK 3 167369517 167369517 single base substitution C G intron_variant ESAD-UK 3 167370619 167370619 single base substitution A T intron_variant ESAD-UK 3 167373112 167373112 single base substitution G A upstream_gene_variant ESAD-UK 3 167373618 167373618 single base substitution G A upstream_gene_variant ESAD-UK 3 167374178 167374178 single base substitution A T upstream_gene_variant ESAD-UK 3 167375323 167375323 deletion of <=200bp C - upstream_gene_variant ESAD-UK 3 167375893 167375893 single base substitution C T upstream_gene_variant ESAD-UK 3 167375922 167375922 single base substitution C T upstream_gene_variant ESAD-UK 3 167376747 167376747 single base substitution G A upstream_gene_variant ESCA-CN 3 167240192 167240192 single base substitution T G intron_variant ESCA-CN 3 167240192 167240192 single base substitution T G missense_variant E114D 342A>C ESCA-CN 3 167240192 167240192 single base substitution T G missense_variant E368D 1104A>C ESCA-CN 3 167240192 167240192 single base substitution T G missense_variant E543D 1629A>C ESCA-CN 3 167248995 167248995 single base substitution G A downstream_gene_variant ESCA-CN 3 167248995 167248995 single base substitution G A intron_variant ESCA-CN 3 167248995 167248995 single base substitution G A missense_variant T182M 545C>T ESCA-CN 3 167248995 167248995 single base substitution G A missense_variant T357M 1070C>T ESCA-CN 3 167248995 167248995 single base substitution G A missense_variant T421M 1262C>T ESCA-CN 3 167248995 167248995 single base substitution G A missense_variant T432M 1295C>T ESCA-CN 3 167248995 167248995 single base substitution G A upstream_gene_variant ESCA-CN 3 167277902 167277902 single base substitution C G intron_variant ESCA-CN 3 167277902 167277902 single base substitution C G missense_variant D201H 601G>C ESCA-CN 3 167277902 167277902 single base substitution C G missense_variant D254H 760G>C ESCA-CN 3 167277902 167277902 single base substitution C G missense_variant D265H 793G>C ESCA-CN 3 167277902 167277902 single base substitution C G missense_variant D26H 76G>C ESCA-CN 3 167277902 167277902 single base substitution C G missense_variant D94H 280G>C ESCA-CN 3 167339420 167339420 single base substitution A G intron_variant ESCA-CN 3 167339420 167339420 single base substitution A G synonymous_variant A206A 618T>C ESCA-CN 3 167339420 167339420 single base substitution A G synonymous_variant A59A 177T>C ESCA-CN 3 167339420 167339420 single base substitution A G upstream_gene_variant KIRC-US 3 167250750 167250750 single base substitution T G 3_prime_UTR_variant KIRC-US 3 167250750 167250750 single base substitution T G intron_variant KIRC-US 3 167250750 167250750 single base substitution T G missense_variant E130A 389A>C KIRC-US 3 167250750 167250750 single base substitution T G missense_variant E305A 914A>C KIRC-US 3 167250750 167250750 single base substitution T G missense_variant E369A 1106A>C KIRC-US 3 167250750 167250750 single base substitution T G missense_variant E380A 1139A>C KIRC-US 3 167250750 167250750 single base substitution T G upstream_gene_variant LAML-KR 3 167232457 167232457 single base substitution A C intron_variant LAML-KR 3 167317452 167317452 single base substitution G C intron_variant LAML-KR 3 167317533 167317533 single base substitution T C intron_variant LAML-KR 3 167317617 167317617 single base substitution C G intron_variant LGG-US 3 167223186 167223186 single base substitution A T intron_variant LGG-US 3 167223186 167223186 single base substitution A T missense_variant D404E 1212T>A LGG-US 3 167223186 167223186 single base substitution A T missense_variant D544E 1632T>A LGG-US 3 167223186 167223186 single base substitution A T missense_variant D555E 1665T>A LGG-US 3 167223186 167223186 single base substitution A T missense_variant D579E 1737T>A LICA-CN 3 167218027 167218027 single base substitution G A intron_variant LICA-CN 3 167218027 167218027 single base substitution G A missense_variant A455V 1364C>T LICA-CN 3 167218027 167218027 single base substitution G A missense_variant A595V 1784C>T LICA-CN 3 167218027 167218027 single base substitution G A missense_variant A606V 1817C>T LICA-CN 3 167218027 167218027 single base substitution G A missense_variant A630V 1889C>T LICA-CN 3 167254718 167254718 single base substitution T A 3_prime_UTR_variant LICA-CN 3 167254718 167254718 single base substitution T A intron_variant LICA-CN 3 167254718 167254718 single base substitution T A missense_variant I105L 313A>T LICA-CN 3 167254718 167254718 single base substitution T A missense_variant I280L 838A>T LICA-CN 3 167254718 167254718 single base substitution T A missense_variant I344L 1030A>T LICA-CN 3 167254718 167254718 single base substitution T A missense_variant I355L 1063A>T LICA-CN 3 167293771 167293771 single base substitution T G 3_prime_UTR_variant LICA-CN 3 167293771 167293771 single base substitution T G intron_variant LICA-CN 3 167293771 167293771 single base substitution T G missense_variant S141R 421A>C LICA-CN 3 167293771 167293771 single base substitution T G missense_variant S194R 580A>C LICA-CN 3 167293771 167293771 single base substitution T G missense_variant S205R 613A>C LICA-CN 3 167293771 167293771 single base substitution T G missense_variant S482R 1444A>C LICA-CN 3 167293771 167293771 single base substitution T G upstream_gene_variant LICA-FR 3 167212211 167212211 single base substitution T C intron_variant LICA-FR 3 167223144 167223144 single base substitution C A intron_variant LICA-FR 3 167223144 167223144 single base substitution C A missense_variant M418I 1254G>T LICA-FR 3 167223144 167223144 single base substitution C A missense_variant M558I 1674G>T LICA-FR 3 167223144 167223144 single base substitution C A missense_variant M569I 1707G>T LICA-FR 3 167223144 167223144 single base substitution C A missense_variant M593I 1779G>T LICA-FR 3 167228895 167228895 single base substitution T C intron_variant LICA-FR 3 167234082 167234082 single base substitution C T intron_variant LICA-FR 3 167234362 167234362 single base substitution C A intron_variant LICA-FR 3 167238754 167238754 single base substitution A T downstream_gene_variant LICA-FR 3 167238754 167238754 single base substitution A T intron_variant LICA-FR 3 167240214 167240214 single base substitution A T intron_variant LICA-FR 3 167240214 167240214 single base substitution A T missense_variant V107E 320T>A LICA-FR 3 167240214 167240214 single base substitution A T missense_variant V361E 1082T>A LICA-FR 3 167240214 167240214 single base substitution A T missense_variant V536E 1607T>A LICA-FR 3 167240334 167240334 single base substitution T C intron_variant LICA-FR 3 167247018 167247018 single base substitution T A downstream_gene_variant LICA-FR 3 167247018 167247018 single base substitution T A intron_variant LICA-FR 3 167247018 167247018 single base substitution T A missense_variant N216I 647A>T LICA-FR 3 167247018 167247018 single base substitution T A missense_variant N28I 83A>T LICA-FR 3 167247018 167247018 single base substitution T A missense_variant N391I 1172A>T LICA-FR 3 167247018 167247018 single base substitution T A missense_variant N455I 1364A>T LICA-FR 3 167247018 167247018 single base substitution T A missense_variant N466I 1397A>T LICA-FR 3 167251694 167251694 single base substitution G T intron_variant LICA-FR 3 167251694 167251694 single base substitution G T upstream_gene_variant LICA-FR 3 167253380 167253380 single base substitution A T intron_variant LICA-FR 3 167253380 167253380 single base substitution A T upstream_gene_variant LICA-FR 3 167258530 167258530 single base substitution A T intron_variant LICA-FR 3 167259508 167259508 single base substitution T C intron_variant LICA-FR 3 167264505 167264505 single base substitution T C intron_variant LICA-FR 3 167278236 167278236 single base substitution A G intron_variant LICA-FR 3 167281170 167281170 single base substitution G A intron_variant LICA-FR 3 167285880 167285880 single base substitution A G intron_variant LICA-FR 3 167287469 167287469 deletion of <=200bp A - intron_variant LICA-FR 3 167291160 167291160 single base substitution C A intron_variant LICA-FR 3 167304725 167304725 single base substitution G A intron_variant LICA-FR 3 167305049 167305049 single base substitution C A intron_variant LICA-FR 3 167309564 167309564 single base substitution T C intron_variant LICA-FR 3 167321663 167321663 single base substitution G A intron_variant LICA-FR 3 167322135 167322135 single base substitution G A 3_prime_UTR_variant LICA-FR 3 167322135 167322135 single base substitution G A intron_variant LICA-FR 3 167322135 167322135 single base substitution G A synonymous_variant A19A 57C>T LICA-FR 3 167322135 167322135 single base substitution G A synonymous_variant A360A 1080C>T LICA-FR 3 167322135 167322135 single base substitution G A synonymous_variant A72A 216C>T LICA-FR 3 167322135 167322135 single base substitution G A synonymous_variant A83A 249C>T LICA-FR 3 167322181 167322181 single base substitution C A 3_prime_UTR_variant LICA-FR 3 167322181 167322181 single base substitution C A intron_variant LICA-FR 3 167322181 167322181 single base substitution C A missense_variant R345I 1034G>T LICA-FR 3 167322181 167322181 single base substitution C A missense_variant R4I 11G>T LICA-FR 3 167322181 167322181 single base substitution C A missense_variant R57I 170G>T LICA-FR 3 167322181 167322181 single base substitution C A missense_variant R68I 203G>T LICA-FR 3 167329237 167329237 single base substitution A T intron_variant LICA-FR 3 167333481 167333481 single base substitution G A intron_variant LICA-FR 3 167337632 167337632 single base substitution T C downstream_gene_variant LICA-FR 3 167337632 167337632 single base substitution T C intron_variant LICA-FR 3 167351729 167351729 single base substitution A G intron_variant LICA-FR 3 167359232 167359232 single base substitution C A intron_variant LICA-FR 3 167367131 167367131 single base substitution C T intron_variant LIHC-US 3 167223203 167223203 single base substitution C T intron_variant LIHC-US 3 167223203 167223203 single base substitution C T missense_variant V399I 1195G>A LIHC-US 3 167223203 167223203 single base substitution C T missense_variant V539I 1615G>A LIHC-US 3 167223203 167223203 single base substitution C T missense_variant V550I 1648G>A LIHC-US 3 167223203 167223203 single base substitution C T missense_variant V574I 1720G>A LIHC-US 3 167246878 167246878 single base substitution C T downstream_gene_variant LIHC-US 3 167246878 167246878 single base substitution C T intron_variant LIHC-US 3 167246878 167246878 single base substitution C T missense_variant G263R 787G>A LIHC-US 3 167246878 167246878 single base substitution C T missense_variant G438R 1312G>A LIHC-US 3 167246878 167246878 single base substitution C T missense_variant G502R 1504G>A LIHC-US 3 167246878 167246878 single base substitution C T missense_variant G513R 1537G>A LIHC-US 3 167246878 167246878 single base substitution C T missense_variant G75R 223G>A LIHC-US 3 167254660 167254660 single base substitution G A intron_variant LIHC-US 3 167254660 167254660 single base substitution G A missense_variant T124M 371C>T LIHC-US 3 167254660 167254660 single base substitution G A missense_variant T299M 896C>T LIHC-US 3 167254660 167254660 single base substitution G A missense_variant T363M 1088C>T LIHC-US 3 167254660 167254660 single base substitution G A missense_variant T374M 1121C>T LIHC-US 3 167254660 167254660 single base substitution G A splice_region_variant LIHC-US 3 167272493 167272493 deletion of <=200bp T - downstream_gene_variant LIHC-US 3 167272493 167272493 deletion of <=200bp T - frameshift_variant I249 LIHC-US 3 167272493 167272493 deletion of <=200bp T - frameshift_variant I302 LIHC-US 3 167272493 167272493 deletion of <=200bp T - frameshift_variant I313 LIHC-US 3 167272493 167272493 deletion of <=200bp T - frameshift_variant I74 LIHC-US 3 167272493 167272493 deletion of <=200bp T - intron_variant LIHC-US 3 167277885 167277885 single base substitution C T intron_variant LIHC-US 3 167277885 167277885 single base substitution C T synonymous_variant R206R 618G>A LIHC-US 3 167277885 167277885 single base substitution C T synonymous_variant R259R 777G>A LIHC-US 3 167277885 167277885 single base substitution C T synonymous_variant R270R 810G>A LIHC-US 3 167277885 167277885 single base substitution C T synonymous_variant R31R 93G>A LIHC-US 3 167277885 167277885 single base substitution C T synonymous_variant R99R 297G>A LIHC-US 3 167277892 167277892 single base substitution T A intron_variant LIHC-US 3 167277892 167277892 single base substitution T A missense_variant E204V 611A>T LIHC-US 3 167277892 167277892 single base substitution T A missense_variant E257V 770A>T LIHC-US 3 167277892 167277892 single base substitution T A missense_variant E268V 803A>T LIHC-US 3 167277892 167277892 single base substitution T A missense_variant E29V 86A>T LIHC-US 3 167277892 167277892 single base substitution T A missense_variant E97V 290A>T LINC-JP 3 167191501 167191501 single base substitution T C downstream_gene_variant LINC-JP 3 167192699 167192699 single base substitution C T downstream_gene_variant LINC-JP 3 167193512 167193512 insertion of <=200bp - G downstream_gene_variant LINC-JP 3 167193602 167193602 single base substitution T C downstream_gene_variant LINC-JP 3 167208611 167208611 single base substitution T C intron_variant LINC-JP 3 167208792 167208792 single base substitution T A intron_variant LINC-JP 3 167212223 167212223 single base substitution G T intron_variant LINC-JP 3 167215664 167215664 insertion of <=200bp - T intron_variant LINC-JP 3 167216890 167216890 insertion of <=200bp - A intron_variant LINC-JP 3 167237078 167237078 single base substitution T C downstream_gene_variant LINC-JP 3 167237078 167237078 single base substitution T C intron_variant LINC-JP 3 167240174 167240174 single base substitution C T intron_variant LINC-JP 3 167240174 167240174 single base substitution C T splice_acceptor_variant LINC-JP 3 167240174 167240174 single base substitution C T synonymous_variant K120K 360G>A LINC-JP 3 167240174 167240174 single base substitution C T synonymous_variant K374K 1122G>A LINC-JP 3 167240174 167240174 single base substitution C T synonymous_variant K549K 1647G>A LINC-JP 3 167241369 167241369 single base substitution G A intron_variant LINC-JP 3 167241440 167241440 single base substitution T A intron_variant LINC-JP 3 167243108 167243108 single base substitution G T intron_variant LINC-JP 3 167245576 167245576 single base substitution A C intron_variant LINC-JP 3 167246990 167246990 single base substitution A G downstream_gene_variant LINC-JP 3 167246990 167246990 single base substitution A G intron_variant LINC-JP 3 167246990 167246990 single base substitution A G synonymous_variant Y225Y 675T>C LINC-JP 3 167246990 167246990 single base substitution A G synonymous_variant Y37Y 111T>C LINC-JP 3 167246990 167246990 single base substitution A G synonymous_variant Y400Y 1200T>C LINC-JP 3 167246990 167246990 single base substitution A G synonymous_variant Y464Y 1392T>C LINC-JP 3 167246990 167246990 single base substitution A G synonymous_variant Y475Y 1425T>C LINC-JP 3 167248592 167248592 single base substitution C A downstream_gene_variant LINC-JP 3 167248592 167248592 single base substitution C A intron_variant LINC-JP 3 167254492 167254492 single base substitution T C intron_variant LINC-JP 3 167254502 167254502 single base substitution T C intron_variant LINC-JP 3 167254522 167254522 single base substitution C T intron_variant LINC-JP 3 167257152 167257152 single base substitution T C intron_variant LINC-JP 3 167267515 167267515 single base substitution G T intron_variant LINC-JP 3 167269064 167269064 single base substitution C G downstream_gene_variant LINC-JP 3 167269064 167269064 single base substitution C G intron_variant LINC-JP 3 167269068 167269068 single base substitution A G downstream_gene_variant LINC-JP 3 167269068 167269068 single base substitution A G intron_variant LINC-JP 3 167273327 167273327 single base substitution G T intron_variant LINC-JP 3 167273807 167273807 single base substitution A G intron_variant LINC-JP 3 167280743 167280743 single base substitution A G intron_variant LINC-JP 3 167281618 167281618 single base substitution T C intron_variant LINC-JP 3 167284560 167284560 single base substitution A G intron_variant LINC-JP 3 167284796 167284796 single base substitution G T intron_variant LINC-JP 3 167287898 167287898 deletion of <=200bp A - intron_variant LINC-JP 3 167288246 167288246 single base substitution T A intron_variant LINC-JP 3 167290391 167290391 single base substitution A G intron_variant LINC-JP 3 167298050 167298050 single base substitution T C intron_variant LINC-JP 3 167310027 167310027 single base substitution T C intron_variant LINC-JP 3 167310216 167310216 single base substitution T A intron_variant LINC-JP 3 167321983 167321983 single base substitution T C intron_variant LINC-JP 3 167322372 167322372 single base substitution C G intron_variant LINC-JP 3 167329401 167329401 single base substitution T A intron_variant LINC-JP 3 167330590 167330590 single base substitution A G intron_variant LINC-JP 3 167337757 167337757 insertion of <=200bp - A downstream_gene_variant LINC-JP 3 167337757 167337757 insertion of <=200bp - A intron_variant LINC-JP 3 167339222 167339222 single base substitution C T downstream_gene_variant LINC-JP 3 167339222 167339222 single base substitution C T intron_variant LINC-JP 3 167339222 167339222 single base substitution C T upstream_gene_variant LINC-JP 3 167341835 167341835 single base substitution A C downstream_gene_variant LINC-JP 3 167341835 167341835 single base substitution A C intron_variant LINC-JP 3 167341835 167341835 single base substitution A C upstream_gene_variant LINC-JP 3 167345097 167345097 single base substitution A T intron_variant LINC-JP 3 167351668 167351668 single base substitution G A intron_variant LINC-JP 3 167352711 167352711 single base substitution C T intron_variant LINC-JP 3 167355796 167355796 single base substitution A T intron_variant LINC-JP 3 167363869 167363869 single base substitution G T intron_variant LINC-JP 3 167371207 167371207 single base substitution A G 5_prime_UTR_variant LINC-JP 3 167371207 167371207 single base substitution A G exon_variant LINC-JP 3 167371207 167371207 single base substitution A G missense_variant C3R 7T>C LINC-JP 3 167372669 167372669 single base substitution A T upstream_gene_variant LIRI-JP 3 167192293 167192293 single base substitution T G downstream_gene_variant LIRI-JP 3 167192531 167192531 single base substitution A G downstream_gene_variant LIRI-JP 3 167192639 167192639 single base substitution T G downstream_gene_variant LIRI-JP 3 167192645 167192645 single base substitution C A downstream_gene_variant LIRI-JP 3 167192761 167192761 single base substitution T C downstream_gene_variant LIRI-JP 3 167193234 167193234 single base substitution C A downstream_gene_variant LIRI-JP 3 167193343 167193343 single base substitution C T downstream_gene_variant LIRI-JP 3 167194227 167194227 single base substitution C A downstream_gene_variant LIRI-JP 3 167194553 167194553 single base substitution G A downstream_gene_variant LIRI-JP 3 167195280 167195280 single base substitution A G downstream_gene_variant LIRI-JP 3 167195813 167195813 single base substitution T C downstream_gene_variant LIRI-JP 3 167196674 167196674 single base substitution T C 3_prime_UTR_variant LIRI-JP 3 167196674 167196674 single base substitution T C missense_variant K521E 1561A>G LIRI-JP 3 167196674 167196674 single base substitution T C missense_variant K661E 1981A>G LIRI-JP 3 167196674 167196674 single base substitution T C missense_variant K672E 2014A>G LIRI-JP 3 167196674 167196674 single base substitution T C missense_variant K696E 2086A>G LIRI-JP 3 167196936 167196936 deletion of <=200bp T - intron_variant LIRI-JP 3 167197059 167197059 single base substitution G A intron_variant LIRI-JP 3 167197394 167197394 single base substitution T C intron_variant LIRI-JP 3 167197815 167197815 single base substitution T A intron_variant LIRI-JP 3 167200232 167200232 single base substitution C T intron_variant LIRI-JP 3 167201856 167201856 single base substitution T G intron_variant LIRI-JP 3 167202346 167202346 single base substitution T C intron_variant LIRI-JP 3 167203370 167203370 single base substitution A T intron_variant LIRI-JP 3 167204924 167204924 single base substitution A G intron_variant LIRI-JP 3 167205204 167205204 single base substitution T A intron_variant LIRI-JP 3 167205759 167205759 single base substitution C T intron_variant LIRI-JP 3 167205885 167205885 single base substitution T C intron_variant LIRI-JP 3 167206288 167206288 single base substitution T C intron_variant LIRI-JP 3 167206350 167206350 single base substitution G T intron_variant LIRI-JP 3 167206463 167206463 single base substitution T C intron_variant LIRI-JP 3 167207926 167207926 single base substitution A T intron_variant LIRI-JP 3 167209102 167209102 single base substitution T A intron_variant LIRI-JP 3 167209392 167209392 single base substitution A G intron_variant LIRI-JP 3 167209484 167209484 single base substitution G T intron_variant LIRI-JP 3 167210195 167210195 single base substitution T G intron_variant LIRI-JP 3 167211316 167211316 single base substitution G T intron_variant LIRI-JP 3 167212073 167212073 single base substitution C T intron_variant LIRI-JP 3 167212500 167212500 single base substitution C A intron_variant LIRI-JP 3 167214841 167214841 single base substitution A G intron_variant LIRI-JP 3 167216122 167216122 single base substitution A G intron_variant LIRI-JP 3 167216733 167216733 single base substitution T C intron_variant LIRI-JP 3 167218639 167218639 single base substitution T C intron_variant LIRI-JP 3 167219083 167219083 single base substitution T C intron_variant LIRI-JP 3 167219780 167219780 single base substitution T C intron_variant LIRI-JP 3 167222108 167222108 single base substitution A T intron_variant LIRI-JP 3 167222545 167222545 single base substitution T A intron_variant LIRI-JP 3 167222702 167222702 single base substitution T C intron_variant LIRI-JP 3 167223723 167223723 single base substitution A G intron_variant LIRI-JP 3 167226176 167226176 single base substitution A T intron_variant LIRI-JP 3 167226185 167226185 single base substitution G A intron_variant LIRI-JP 3 167226928 167226928 single base substitution T C intron_variant LIRI-JP 3 167228677 167228677 single base substitution G T intron_variant LIRI-JP 3 167229192 167229192 single base substitution C T intron_variant LIRI-JP 3 167229265 167229265 single base substitution T A intron_variant LIRI-JP 3 167230931 167230931 single base substitution C T intron_variant LIRI-JP 3 167231659 167231659 single base substitution T C intron_variant LIRI-JP 3 167231844 167231844 single base substitution C G intron_variant LIRI-JP 3 167232117 167232117 single base substitution G T intron_variant LIRI-JP 3 167232583 167232583 single base substitution T A intron_variant LIRI-JP 3 167233344 167233344 single base substitution C A intron_variant LIRI-JP 3 167233714 167233714 single base substitution G T intron_variant LIRI-JP 3 167236261 167236261 single base substitution T C downstream_gene_variant LIRI-JP 3 167236261 167236261 single base substitution T C intron_variant LIRI-JP 3 167236477 167236477 single base substitution G T downstream_gene_variant LIRI-JP 3 167236477 167236477 single base substitution G T intron_variant LIRI-JP 3 167238630 167238630 single base substitution T A downstream_gene_variant LIRI-JP 3 167238630 167238630 single base substitution T A intron_variant LIRI-JP 3 167240222 167240222 single base substitution A G intron_variant LIRI-JP 3 167240222 167240222 single base substitution A G synonymous_variant T104T 312T>C LIRI-JP 3 167240222 167240222 single base substitution A G synonymous_variant T358T 1074T>C LIRI-JP 3 167240222 167240222 single base substitution A G synonymous_variant T533T 1599T>C LIRI-JP 3 167240655 167240655 single base substitution G A intron_variant LIRI-JP 3 167242709 167242709 single base substitution A T intron_variant LIRI-JP 3 167243643 167243643 deletion of <=200bp A - intron_variant LIRI-JP 3 167244326 167244326 single base substitution G T intron_variant LIRI-JP 3 167245470 167245470 single base substitution G A intron_variant LIRI-JP 3 167246042 167246042 single base substitution G A downstream_gene_variant LIRI-JP 3 167246042 167246042 single base substitution G A intron_variant LIRI-JP 3 167247194 167247194 single base substitution G T downstream_gene_variant LIRI-JP 3 167247194 167247194 single base substitution G T intron_variant LIRI-JP 3 167248103 167248103 single base substitution T C downstream_gene_variant LIRI-JP 3 167248103 167248103 single base substitution T C intron_variant LIRI-JP 3 167248821 167248821 single base substitution C T downstream_gene_variant LIRI-JP 3 167248821 167248821 single base substitution C T intron_variant LIRI-JP 3 167251258 167251258 single base substitution T C intron_variant LIRI-JP 3 167251258 167251258 single base substitution T C upstream_gene_variant LIRI-JP 3 167251439 167251439 single base substitution C A intron_variant LIRI-JP 3 167251439 167251439 single base substitution C A upstream_gene_variant LIRI-JP 3 167252041 167252041 single base substitution G T intron_variant LIRI-JP 3 167252041 167252041 single base substitution G T upstream_gene_variant LIRI-JP 3 167252066 167252066 single base substitution T C intron_variant LIRI-JP 3 167252066 167252066 single base substitution T C upstream_gene_variant LIRI-JP 3 167252494 167252494 single base substitution C G intron_variant LIRI-JP 3 167252494 167252494 single base substitution C G upstream_gene_variant LIRI-JP 3 167252936 167252936 single base substitution G A intron_variant LIRI-JP 3 167252936 167252936 single base substitution G A upstream_gene_variant LIRI-JP 3 167253764 167253764 single base substitution C T intron_variant LIRI-JP 3 167253764 167253764 single base substitution C T upstream_gene_variant LIRI-JP 3 167254368 167254368 single base substitution T A intron_variant LIRI-JP 3 167255772 167255772 single base substitution T C intron_variant LIRI-JP 3 167257740 167257740 single base substitution T A intron_variant LIRI-JP 3 167258055 167258055 single base substitution G A intron_variant LIRI-JP 3 167258545 167258545 single base substitution G T intron_variant LIRI-JP 3 167261168 167261168 single base substitution G A intron_variant LIRI-JP 3 167261313 167261313 single base substitution A G intron_variant LIRI-JP 3 167261335 167261335 single base substitution T C intron_variant LIRI-JP 3 167261362 167261362 single base substitution T C intron_variant LIRI-JP 3 167261800 167261800 single base substitution C A intron_variant LIRI-JP 3 167262275 167262275 single base substitution A T intron_variant LIRI-JP 3 167263623 167263623 single base substitution A T intron_variant LIRI-JP 3 167263768 167263768 single base substitution G A intron_variant LIRI-JP 3 167264625 167264625 single base substitution A C intron_variant LIRI-JP 3 167265219 167265219 single base substitution A G intron_variant LIRI-JP 3 167265371 167265371 single base substitution G T intron_variant LIRI-JP 3 167266074 167266074 single base substitution C A intron_variant LIRI-JP 3 167266661 167266661 single base substitution T C intron_variant LIRI-JP 3 167267594 167267594 single base substitution C A downstream_gene_variant LIRI-JP 3 167267594 167267594 single base substitution C A intron_variant LIRI-JP 3 167268811 167268811 single base substitution T C downstream_gene_variant LIRI-JP 3 167268811 167268811 single base substitution T C intron_variant LIRI-JP 3 167268838 167268838 single base substitution A G downstream_gene_variant LIRI-JP 3 167268838 167268838 single base substitution A G intron_variant LIRI-JP 3 167269371 167269371 single base substitution C T downstream_gene_variant LIRI-JP 3 167269371 167269371 single base substitution C T intron_variant LIRI-JP 3 167269704 167269704 single base substitution G T downstream_gene_variant LIRI-JP 3 167269704 167269704 single base substitution G T intron_variant LIRI-JP 3 167269724 167269724 single base substitution G C downstream_gene_variant LIRI-JP 3 167269724 167269724 single base substitution G C intron_variant LIRI-JP 3 167270647 167270647 single base substitution T C downstream_gene_variant LIRI-JP 3 167270647 167270647 single base substitution T C intron_variant LIRI-JP 3 167270711 167270711 single base substitution T A downstream_gene_variant LIRI-JP 3 167270711 167270711 single base substitution T A intron_variant LIRI-JP 3 167270755 167270755 single base substitution T A downstream_gene_variant LIRI-JP 3 167270755 167270755 single base substitution T A intron_variant LIRI-JP 3 167272791 167272791 single base substitution A G intron_variant LIRI-JP 3 167273034 167273034 single base substitution C A intron_variant LIRI-JP 3 167274307 167274307 single base substitution A G intron_variant LIRI-JP 3 167275819 167275819 single base substitution A T intron_variant LIRI-JP 3 167276484 167276484 single base substitution G T intron_variant LIRI-JP 3 167276777 167276777 single base substitution A C intron_variant LIRI-JP 3 167277214 167277214 single base substitution T A intron_variant LIRI-JP 3 167277378 167277378 single base substitution A G intron_variant LIRI-JP 3 167277616 167277616 single base substitution A G intron_variant LIRI-JP 3 167277887 167277887 single base substitution G T intron_variant LIRI-JP 3 167277887 167277887 single base substitution G T synonymous_variant R206R 616C>A LIRI-JP 3 167277887 167277887 single base substitution G T synonymous_variant R259R 775C>A LIRI-JP 3 167277887 167277887 single base substitution G T synonymous_variant R270R 808C>A LIRI-JP 3 167277887 167277887 single base substitution G T synonymous_variant R31R 91C>A LIRI-JP 3 167277887 167277887 single base substitution G T synonymous_variant R99R 295C>A LIRI-JP 3 167277939 167277939 single base substitution A C intron_variant LIRI-JP 3 167277939 167277939 single base substitution A C synonymous_variant G13G 39T>G LIRI-JP 3 167277939 167277939 single base substitution A C synonymous_variant G188G 564T>G LIRI-JP 3 167277939 167277939 single base substitution A C synonymous_variant G241G 723T>G LIRI-JP 3 167277939 167277939 single base substitution A C synonymous_variant G252G 756T>G LIRI-JP 3 167277939 167277939 single base substitution A C synonymous_variant G81G 243T>G LIRI-JP 3 167278101 167278101 single base substitution A C intron_variant LIRI-JP 3 167279951 167279951 single base substitution A G intron_variant LIRI-JP 3 167280176 167280176 single base substitution T A intron_variant LIRI-JP 3 167280349 167280349 insertion of <=200bp - C intron_variant LIRI-JP 3 167280418 167280418 single base substitution T C intron_variant LIRI-JP 3 167281067 167281067 single base substitution G A intron_variant LIRI-JP 3 167281327 167281327 single base substitution A G intron_variant LIRI-JP 3 167281808 167281808 single base substitution T A intron_variant LIRI-JP 3 167282057 167282057 single base substitution A G intron_variant LIRI-JP 3 167282374 167282374 single base substitution G T intron_variant LIRI-JP 3 167283691 167283691 single base substitution A G intron_variant LIRI-JP 3 167284041 167284041 single base substitution T C intron_variant LIRI-JP 3 167284324 167284324 single base substitution T C intron_variant LIRI-JP 3 167284536 167284536 single base substitution C T intron_variant LIRI-JP 3 167284971 167284971 single base substitution C T intron_variant LIRI-JP 3 167286271 167286271 single base substitution T C intron_variant LIRI-JP 3 167286502 167286502 single base substitution C T intron_variant LIRI-JP 3 167286532 167286532 single base substitution C A intron_variant LIRI-JP 3 167286973 167286973 single base substitution G A intron_variant LIRI-JP 3 167287309 167287309 single base substitution C T intron_variant LIRI-JP 3 167288166 167288166 single base substitution T A intron_variant LIRI-JP 3 167288223 167288223 single base substitution T C intron_variant LIRI-JP 3 167289334 167289334 single base substitution C T intron_variant LIRI-JP 3 167289737 167289737 single base substitution A T intron_variant LIRI-JP 3 167290059 167290059 single base substitution C T intron_variant LIRI-JP 3 167291004 167291004 single base substitution C G intron_variant LIRI-JP 3 167291005 167291005 single base substitution C A intron_variant LIRI-JP 3 167291379 167291379 single base substitution G C intron_variant LIRI-JP 3 167292904 167292904 single base substitution A G 5_prime_UTR_variant LIRI-JP 3 167292904 167292904 single base substitution A G intron_variant LIRI-JP 3 167293093 167293093 single base substitution A G intron_variant LIRI-JP 3 167293093 167293093 single base substitution A G upstream_gene_variant LIRI-JP 3 167293260 167293260 single base substitution C T intron_variant LIRI-JP 3 167293260 167293260 single base substitution C T upstream_gene_variant LIRI-JP 3 167294029 167294029 single base substitution G A intron_variant LIRI-JP 3 167294029 167294029 single base substitution G A upstream_gene_variant LIRI-JP 3 167294088 167294088 single base substitution A G intron_variant LIRI-JP 3 167294088 167294088 single base substitution A G upstream_gene_variant LIRI-JP 3 167295059 167295059 single base substitution G T intron_variant LIRI-JP 3 167295059 167295059 single base substitution G T upstream_gene_variant LIRI-JP 3 167295060 167295060 single base substitution A C intron_variant LIRI-JP 3 167295060 167295060 single base substitution A C upstream_gene_variant LIRI-JP 3 167296135 167296135 single base substitution T C intron_variant LIRI-JP 3 167296135 167296135 single base substitution T C upstream_gene_variant LIRI-JP 3 167296304 167296304 single base substitution A C intron_variant LIRI-JP 3 167296304 167296304 single base substitution A C upstream_gene_variant LIRI-JP 3 167296848 167296848 single base substitution C T intron_variant LIRI-JP 3 167296848 167296848 single base substitution C T upstream_gene_variant LIRI-JP 3 167296889 167296889 single base substitution T C intron_variant LIRI-JP 3 167296889 167296889 single base substitution T C upstream_gene_variant LIRI-JP 3 167296923 167296923 single base substitution T C intron_variant LIRI-JP 3 167296923 167296923 single base substitution T C upstream_gene_variant LIRI-JP 3 167296957 167296957 single base substitution A G intron_variant LIRI-JP 3 167296957 167296957 single base substitution A G upstream_gene_variant LIRI-JP 3 167297329 167297329 single base substitution T C intron_variant LIRI-JP 3 167297329 167297329 single base substitution T C upstream_gene_variant LIRI-JP 3 167297675 167297675 single base substitution T C intron_variant LIRI-JP 3 167297675 167297675 single base substitution T C upstream_gene_variant LIRI-JP 3 167298373 167298373 single base substitution C T intron_variant LIRI-JP 3 167299694 167299694 single base substitution G A intron_variant LIRI-JP 3 167300152 167300152 single base substitution T C intron_variant LIRI-JP 3 167300507 167300507 single base substitution G A intron_variant LIRI-JP 3 167301049 167301049 deletion of <=200bp C - intron_variant LIRI-JP 3 167302470 167302470 single base substitution G T intron_variant LIRI-JP 3 167303232 167303232 single base substitution A G intron_variant LIRI-JP 3 167303985 167303985 single base substitution T G intron_variant LIRI-JP 3 167304251 167304251 single base substitution A T intron_variant LIRI-JP 3 167305097 167305097 single base substitution A G intron_variant LIRI-JP 3 167306736 167306736 single base substitution C A intron_variant LIRI-JP 3 167307185 167307185 single base substitution T G intron_variant LIRI-JP 3 167307267 167307267 single base substitution C T intron_variant LIRI-JP 3 167309813 167309813 single base substitution T A intron_variant LIRI-JP 3 167309948 167309948 single base substitution C A intron_variant LIRI-JP 3 167311218 167311218 single base substitution C A intron_variant LIRI-JP 3 167311945 167311945 single base substitution A T intron_variant LIRI-JP 3 167317289 167317289 single base substitution A T intron_variant LIRI-JP 3 167317312 167317312 single base substitution C T intron_variant LIRI-JP 3 167318445 167318445 single base substitution C A intron_variant LIRI-JP 3 167318478 167318478 single base substitution A G intron_variant LIRI-JP 3 167318771 167318771 single base substitution G C intron_variant LIRI-JP 3 167318870 167318870 single base substitution A C intron_variant LIRI-JP 3 167320592 167320592 single base substitution C T intron_variant LIRI-JP 3 167321083 167321083 single base substitution T C intron_variant LIRI-JP 3 167321512 167321512 single base substitution T A intron_variant LIRI-JP 3 167321964 167321964 single base substitution T C intron_variant LIRI-JP 3 167322254 167322254 single base substitution T C intron_variant LIRI-JP 3 167322254 167322254 single base substitution T C missense_variant T321A 961A>G LIRI-JP 3 167322254 167322254 single base substitution T C missense_variant T33A 97A>G LIRI-JP 3 167322254 167322254 single base substitution T C missense_variant T44A 130A>G LIRI-JP 3 167322254 167322254 single base substitution T C splice_region_variant LIRI-JP 3 167322412 167322412 single base substitution C T intron_variant LIRI-JP 3 167322428 167322428 single base substitution A C intron_variant LIRI-JP 3 167322964 167322964 single base substitution T A intron_variant LIRI-JP 3 167323052 167323052 single base substitution A T intron_variant LIRI-JP 3 167323411 167323411 single base substitution A G intron_variant LIRI-JP 3 167323688 167323688 single base substitution T C intron_variant LIRI-JP 3 167324236 167324236 single base substitution T C intron_variant LIRI-JP 3 167324504 167324504 single base substitution A G intron_variant LIRI-JP 3 167324525 167324525 single base substitution C T intron_variant LIRI-JP 3 167325693 167325693 single base substitution A T intron_variant LIRI-JP 3 167326053 167326053 single base substitution A G intron_variant LIRI-JP 3 167326209 167326209 single base substitution C T intron_variant LIRI-JP 3 167327470 167327470 single base substitution G T intron_variant LIRI-JP 3 167328039 167328039 single base substitution C A intron_variant LIRI-JP 3 167328699 167328699 single base substitution A C intron_variant LIRI-JP 3 167329703 167329703 single base substitution G A intron_variant LIRI-JP 3 167330714 167330714 single base substitution G T intron_variant LIRI-JP 3 167331528 167331528 single base substitution T C intron_variant LIRI-JP 3 167333037 167333037 single base substitution C T intron_variant LIRI-JP 3 167333483 167333483 single base substitution A G intron_variant LIRI-JP 3 167334129 167334129 single base substitution C A intron_variant LIRI-JP 3 167334200 167334200 single base substitution C A intron_variant LIRI-JP 3 167335479 167335479 single base substitution A C downstream_gene_variant LIRI-JP 3 167335479 167335479 single base substitution A C intron_variant LIRI-JP 3 167336540 167336540 single base substitution A G downstream_gene_variant LIRI-JP 3 167336540 167336540 single base substitution A G intron_variant LIRI-JP 3 167337779 167337779 single base substitution T C downstream_gene_variant LIRI-JP 3 167337779 167337779 single base substitution T C intron_variant LIRI-JP 3 167338525 167338525 deletion of <=200bp G - downstream_gene_variant LIRI-JP 3 167338525 167338525 deletion of <=200bp G - intron_variant LIRI-JP 3 167338525 167338525 deletion of <=200bp G - upstream_gene_variant LIRI-JP 3 167339018 167339018 single base substitution G A downstream_gene_variant LIRI-JP 3 167339018 167339018 single base substitution G A intron_variant LIRI-JP 3 167339018 167339018 single base substitution G A upstream_gene_variant LIRI-JP 3 167339103 167339103 single base substitution G A downstream_gene_variant LIRI-JP 3 167339103 167339103 single base substitution G A intron_variant LIRI-JP 3 167339103 167339103 single base substitution G A upstream_gene_variant LIRI-JP 3 167340046 167340046 single base substitution T C downstream_gene_variant LIRI-JP 3 167340046 167340046 single base substitution T C intron_variant LIRI-JP 3 167340046 167340046 single base substitution T C upstream_gene_variant LIRI-JP 3 167340056 167340056 single base substitution G T downstream_gene_variant LIRI-JP 3 167340056 167340056 single base substitution G T intron_variant LIRI-JP 3 167340056 167340056 single base substitution G T upstream_gene_variant LIRI-JP 3 167340702 167340702 single base substitution A G downstream_gene_variant LIRI-JP 3 167340702 167340702 single base substitution A G intron_variant LIRI-JP 3 167340702 167340702 single base substitution A G upstream_gene_variant LIRI-JP 3 167341152 167341152 single base substitution G C downstream_gene_variant LIRI-JP 3 167341152 167341152 single base substitution G C intron_variant LIRI-JP 3 167341152 167341152 single base substitution G C upstream_gene_variant LIRI-JP 3 167345095 167345095 single base substitution C A intron_variant LIRI-JP 3 167345380 167345380 single base substitution A G intron_variant LIRI-JP 3 167346337 167346337 single base substitution C A intron_variant LIRI-JP 3 167346399 167346399 single base substitution A G intron_variant LIRI-JP 3 167347040 167347040 single base substitution T A intron_variant LIRI-JP 3 167349052 167349052 single base substitution A G intron_variant LIRI-JP 3 167349437 167349437 single base substitution G A intron_variant LIRI-JP 3 167350981 167350981 single base substitution T C intron_variant LIRI-JP 3 167352378 167352378 single base substitution T C intron_variant LIRI-JP 3 167352756 167352756 single base substitution T A intron_variant LIRI-JP 3 167352826 167352826 single base substitution T C intron_variant LIRI-JP 3 167354413 167354413 single base substitution C G intron_variant LIRI-JP 3 167354535 167354535 single base substitution T C intron_variant LIRI-JP 3 167354784 167354784 single base substitution A C intron_variant LIRI-JP 3 167355544 167355544 single base substitution C T intron_variant LIRI-JP 3 167357955 167357955 single base substitution C A intron_variant LIRI-JP 3 167359435 167359435 single base substitution A T intron_variant LIRI-JP 3 167359946 167359946 single base substitution T C intron_variant LIRI-JP 3 167362077 167362077 single base substitution T C intron_variant LIRI-JP 3 167363167 167363167 single base substitution T A intron_variant LIRI-JP 3 167363952 167363952 single base substitution C T intron_variant LIRI-JP 3 167364369 167364369 single base substitution T A intron_variant LIRI-JP 3 167364911 167364911 single base substitution T G intron_variant LIRI-JP 3 167365498 167365498 single base substitution A G intron_variant LIRI-JP 3 167366181 167366181 single base substitution T C intron_variant LIRI-JP 3 167367015 167367015 single base substitution T C intron_variant LIRI-JP 3 167367345 167367345 single base substitution A T intron_variant LIRI-JP 3 167367960 167367960 single base substitution G C intron_variant LIRI-JP 3 167367986 167367986 single base substitution C T intron_variant LIRI-JP 3 167368041 167368041 single base substitution A T intron_variant LIRI-JP 3 167372148 167372148 single base substitution T C upstream_gene_variant LIRI-JP 3 167373428 167373428 single base substitution T A upstream_gene_variant LIRI-JP 3 167373805 167373805 single base substitution G A upstream_gene_variant LIRI-JP 3 167373877 167373877 single base substitution T C upstream_gene_variant LUSC-KR 3 167191850 167191850 single base substitution A T downstream_gene_variant LUSC-KR 3 167193291 167193291 single base substitution T C downstream_gene_variant LUSC-KR 3 167193593 167193593 single base substitution G C downstream_gene_variant LUSC-KR 3 167196554 167196554 single base substitution A G 3_prime_UTR_variant LUSC-KR 3 167197784 167197784 single base substitution C A intron_variant LUSC-KR 3 167197938 167197938 single base substitution G A intron_variant LUSC-KR 3 167199315 167199315 single base substitution T C intron_variant LUSC-KR 3 167202878 167202878 single base substitution G A intron_variant LUSC-KR 3 167203029 167203029 single base substitution C A intron_variant LUSC-KR 3 167203581 167203581 single base substitution G C intron_variant LUSC-KR 3 167205989 167205989 single base substitution T G intron_variant LUSC-KR 3 167206664 167206664 single base substitution T A intron_variant LUSC-KR 3 167207245 167207245 single base substitution C G intron_variant LUSC-KR 3 167208822 167208822 single base substitution T C intron_variant LUSC-KR 3 167209114 167209114 single base substitution G C intron_variant LUSC-KR 3 167210044 167210044 single base substitution A T intron_variant LUSC-KR 3 167210777 167210777 single base substitution G C intron_variant LUSC-KR 3 167214596 167214596 single base substitution A T intron_variant LUSC-KR 3 167215236 167215236 single base substitution G C intron_variant LUSC-KR 3 167215847 167215847 single base substitution C A intron_variant LUSC-KR 3 167215929 167215929 single base substitution C A intron_variant LUSC-KR 3 167216071 167216071 single base substitution G T intron_variant LUSC-KR 3 167220548 167220548 single base substitution G T intron_variant LUSC-KR 3 167220650 167220650 single base substitution A T intron_variant LUSC-KR 3 167222127 167222127 single base substitution C A intron_variant LUSC-KR 3 167222889 167222889 single base substitution T C intron_variant LUSC-KR 3 167223032 167223032 single base substitution T A intron_variant LUSC-KR 3 167223758 167223758 single base substitution A G intron_variant LUSC-KR 3 167226347 167226347 single base substitution G T intron_variant LUSC-KR 3 167227101 167227101 single base substitution T C intron_variant LUSC-KR 3 167227476 167227476 single base substitution C G intron_variant LUSC-KR 3 167231415 167231415 single base substitution A T intron_variant LUSC-KR 3 167232442 167232442 single base substitution C A intron_variant LUSC-KR 3 167233368 167233368 single base substitution G A intron_variant LUSC-KR 3 167234116 167234116 single base substitution C T intron_variant LUSC-KR 3 167238092 167238092 single base substitution C T downstream_gene_variant LUSC-KR 3 167238092 167238092 single base substitution C T intron_variant LUSC-KR 3 167238097 167238097 single base substitution C A downstream_gene_variant LUSC-KR 3 167238097 167238097 single base substitution C A intron_variant LUSC-KR 3 167239639 167239639 single base substitution G A downstream_gene_variant LUSC-KR 3 167239639 167239639 single base substitution G A intron_variant LUSC-KR 3 167241426 167241426 single base substitution C A intron_variant LUSC-KR 3 167243932 167243932 single base substitution G C intron_variant LUSC-KR 3 167248922 167248922 single base substitution T A downstream_gene_variant LUSC-KR 3 167248922 167248922 single base substitution T A intron_variant LUSC-KR 3 167248922 167248922 single base substitution T A missense_variant R18S 54A>T LUSC-KR 3 167248922 167248922 single base substitution T A missense_variant R206S 618A>T LUSC-KR 3 167248922 167248922 single base substitution T A missense_variant R381S 1143A>T LUSC-KR 3 167248922 167248922 single base substitution T A missense_variant R445S 1335A>T LUSC-KR 3 167248922 167248922 single base substitution T A missense_variant R456S 1368A>T LUSC-KR 3 167249886 167249886 single base substitution A G downstream_gene_variant LUSC-KR 3 167249886 167249886 single base substitution A G intron_variant LUSC-KR 3 167249886 167249886 single base substitution A G upstream_gene_variant LUSC-KR 3 167250195 167250195 single base substitution C A downstream_gene_variant LUSC-KR 3 167250195 167250195 single base substitution C A intron_variant LUSC-KR 3 167250195 167250195 single base substitution C A upstream_gene_variant LUSC-KR 3 167250338 167250338 single base substitution T C downstream_gene_variant LUSC-KR 3 167250338 167250338 single base substitution T C intron_variant LUSC-KR 3 167250338 167250338 single base substitution T C upstream_gene_variant LUSC-KR 3 167250365 167250365 single base substitution C A downstream_gene_variant LUSC-KR 3 167250365 167250365 single base substitution C A intron_variant LUSC-KR 3 167250365 167250365 single base substitution C A upstream_gene_variant LUSC-KR 3 167253107 167253107 single base substitution G A intron_variant LUSC-KR 3 167253107 167253107 single base substitution G A upstream_gene_variant LUSC-KR 3 167257321 167257321 single base substitution C A intron_variant LUSC-KR 3 167258753 167258753 single base substitution A G intron_variant LUSC-KR 3 167259358 167259358 single base substitution C A intron_variant LUSC-KR 3 167261174 167261174 single base substitution C T intron_variant LUSC-KR 3 167261215 167261215 single base substitution A G intron_variant LUSC-KR 3 167261571 167261571 single base substitution C A intron_variant LUSC-KR 3 167261836 167261836 single base substitution C A intron_variant LUSC-KR 3 167264789 167264789 single base substitution T A intron_variant LUSC-KR 3 167265747 167265747 single base substitution G A intron_variant LUSC-KR 3 167270509 167270509 single base substitution C A downstream_gene_variant LUSC-KR 3 167270509 167270509 single base substitution C A intron_variant LUSC-KR 3 167270745 167270745 single base substitution C A downstream_gene_variant LUSC-KR 3 167270745 167270745 single base substitution C A intron_variant LUSC-KR 3 167271636 167271636 single base substitution C A downstream_gene_variant LUSC-KR 3 167271636 167271636 single base substitution C A intron_variant LUSC-KR 3 167271657 167271657 single base substitution A C downstream_gene_variant LUSC-KR 3 167271657 167271657 single base substitution A C intron_variant LUSC-KR 3 167273588 167273588 single base substitution T A intron_variant LUSC-KR 3 167274279 167274279 single base substitution C T intron_variant LUSC-KR 3 167276048 167276048 single base substitution C A intron_variant LUSC-KR 3 167277402 167277402 single base substitution T C intron_variant LUSC-KR 3 167277954 167277954 single base substitution G A intron_variant LUSC-KR 3 167277954 167277954 single base substitution G A synonymous_variant I183I 549C>T LUSC-KR 3 167277954 167277954 single base substitution G A synonymous_variant I236I 708C>T LUSC-KR 3 167277954 167277954 single base substitution G A synonymous_variant I247I 741C>T LUSC-KR 3 167277954 167277954 single base substitution G A synonymous_variant I76I 228C>T LUSC-KR 3 167277954 167277954 single base substitution G A synonymous_variant I8I 24C>T LUSC-KR 3 167278329 167278329 single base substitution G C intron_variant LUSC-KR 3 167279037 167279037 single base substitution C A intron_variant LUSC-KR 3 167279607 167279607 single base substitution C A intron_variant LUSC-KR 3 167281358 167281358 single base substitution C G intron_variant LUSC-KR 3 167281628 167281628 single base substitution G C intron_variant LUSC-KR 3 167281896 167281896 single base substitution C G intron_variant LUSC-KR 3 167284527 167284527 single base substitution G T intron_variant LUSC-KR 3 167287452 167287452 single base substitution T A intron_variant LUSC-KR 3 167287503 167287503 single base substitution T C intron_variant LUSC-KR 3 167291551 167291551 single base substitution C T intron_variant LUSC-KR 3 167292091 167292091 single base substitution C G intron_variant LUSC-KR 3 167293368 167293368 single base substitution C T intron_variant LUSC-KR 3 167293368 167293368 single base substitution C T upstream_gene_variant LUSC-KR 3 167295402 167295402 single base substitution A G intron_variant LUSC-KR 3 167295402 167295402 single base substitution A G upstream_gene_variant LUSC-KR 3 167296223 167296223 single base substitution T C intron_variant LUSC-KR 3 167296223 167296223 single base substitution T C upstream_gene_variant LUSC-KR 3 167297489 167297489 single base substitution C T intron_variant LUSC-KR 3 167297489 167297489 single base substitution C T upstream_gene_variant LUSC-KR 3 167298077 167298077 single base substitution G C intron_variant LUSC-KR 3 167301704 167301704 single base substitution C A intron_variant LUSC-KR 3 167303192 167303192 single base substitution G T intron_variant LUSC-KR 3 167303615 167303615 single base substitution G C intron_variant LUSC-KR 3 167305654 167305654 single base substitution C G intron_variant LUSC-KR 3 167306599 167306599 single base substitution G C intron_variant LUSC-KR 3 167308935 167308935 single base substitution C G intron_variant LUSC-KR 3 167311117 167311117 single base substitution T C intron_variant LUSC-KR 3 167311569 167311569 single base substitution C T intron_variant LUSC-KR 3 167311938 167311938 single base substitution C A intron_variant LUSC-KR 3 167312295 167312295 single base substitution G T intron_variant LUSC-KR 3 167312638 167312638 single base substitution G A intron_variant LUSC-KR 3 167313271 167313271 single base substitution A G intron_variant LUSC-KR 3 167315044 167315044 single base substitution G T intron_variant LUSC-KR 3 167317260 167317260 single base substitution C A intron_variant LUSC-KR 3 167319099 167319099 single base substitution G C intron_variant LUSC-KR 3 167324374 167324374 single base substitution A G intron_variant LUSC-KR 3 167324758 167324758 single base substitution T C intron_variant LUSC-KR 3 167325035 167325035 single base substitution C G intron_variant LUSC-KR 3 167327189 167327189 single base substitution G A intron_variant LUSC-KR 3 167328796 167328796 single base substitution C T intron_variant LUSC-KR 3 167329162 167329162 single base substitution C A intron_variant LUSC-KR 3 167330926 167330926 single base substitution T C intron_variant LUSC-KR 3 167334048 167334048 single base substitution C G intron_variant LUSC-KR 3 167334563 167334563 single base substitution C A downstream_gene_variant LUSC-KR 3 167334563 167334563 single base substitution C A intron_variant LUSC-KR 3 167334813 167334813 single base substitution G A downstream_gene_variant LUSC-KR 3 167334813 167334813 single base substitution G A intron_variant LUSC-KR 3 167336754 167336754 single base substitution C A downstream_gene_variant LUSC-KR 3 167336754 167336754 single base substitution C A intron_variant LUSC-KR 3 167340377 167340377 single base substitution G A downstream_gene_variant LUSC-KR 3 167340377 167340377 single base substitution G A intron_variant LUSC-KR 3 167340377 167340377 single base substitution G A upstream_gene_variant LUSC-KR 3 167340864 167340864 single base substitution G C downstream_gene_variant LUSC-KR 3 167340864 167340864 single base substitution G C intron_variant LUSC-KR 3 167340864 167340864 single base substitution G C upstream_gene_variant LUSC-KR 3 167341135 167341135 single base substitution A G downstream_gene_variant LUSC-KR 3 167341135 167341135 single base substitution A G intron_variant LUSC-KR 3 167341135 167341135 single base substitution A G upstream_gene_variant LUSC-KR 3 167341313 167341313 single base substitution G C downstream_gene_variant LUSC-KR 3 167341313 167341313 single base substitution G C intron_variant LUSC-KR 3 167341313 167341313 single base substitution G C upstream_gene_variant LUSC-KR 3 167343456 167343456 single base substitution A T downstream_gene_variant LUSC-KR 3 167343456 167343456 single base substitution A T intron_variant LUSC-KR 3 167346381 167346381 single base substitution G A intron_variant LUSC-KR 3 167353841 167353841 single base substitution T G intron_variant LUSC-KR 3 167353850 167353850 single base substitution C A intron_variant LUSC-KR 3 167353852 167353852 single base substitution C T intron_variant LUSC-KR 3 167355304 167355304 single base substitution C T intron_variant LUSC-KR 3 167355411 167355411 single base substitution G C intron_variant LUSC-KR 3 167356702 167356702 single base substitution G T intron_variant LUSC-KR 3 167357618 167357618 single base substitution G A intron_variant LUSC-KR 3 167366603 167366603 single base substitution C T intron_variant LUSC-KR 3 167368879 167368879 single base substitution T A intron_variant LUSC-KR 3 167371286 167371286 single base substitution G A 5_prime_UTR_variant LUSC-KR 3 167371286 167371286 single base substitution G A splice_region_variant LUSC-KR 3 167371511 167371511 single base substitution A G intron_variant LUSC-KR 3 167371511 167371511 single base substitution A G upstream_gene_variant LUSC-KR 3 167373419 167373419 single base substitution G C upstream_gene_variant LUSC-US 3 167223158 167223158 single base substitution T C intron_variant LUSC-US 3 167223158 167223158 single base substitution T C missense_variant R414G 1240A>G LUSC-US 3 167223158 167223158 single base substitution T C missense_variant R554G 1660A>G LUSC-US 3 167223158 167223158 single base substitution T C missense_variant R565G 1693A>G LUSC-US 3 167223158 167223158 single base substitution T C missense_variant R589G 1765A>G LUSC-US 3 167240178 167240178 single base substitution G A intron_variant LUSC-US 3 167240178 167240178 single base substitution G A missense_variant S119F 356C>T LUSC-US 3 167240178 167240178 single base substitution G A missense_variant S373F 1118C>T LUSC-US 3 167240178 167240178 single base substitution G A missense_variant S548F 1643C>T LUSC-US 3 167240178 167240178 single base substitution G A splice_region_variant LUSC-US 3 167245649 167245649 single base substitution C A intron_variant LUSC-US 3 167245649 167245649 single base substitution C A missense_variant V328L 982G>T LUSC-US 3 167245649 167245649 single base substitution C A missense_variant V503L 1507G>T LUSC-US 3 167245807 167245807 single base substitution T C downstream_gene_variant LUSC-US 3 167245807 167245807 single base substitution T C intron_variant LUSC-US 3 167245807 167245807 single base substitution T C splice_acceptor_variant LUSC-US 3 167246922 167246922 single base substitution G C downstream_gene_variant LUSC-US 3 167246922 167246922 single base substitution G C intron_variant LUSC-US 3 167246922 167246922 single base substitution G C missense_variant S248W 743C>G LUSC-US 3 167246922 167246922 single base substitution G C missense_variant S423W 1268C>G LUSC-US 3 167246922 167246922 single base substitution G C missense_variant S487W 1460C>G LUSC-US 3 167246922 167246922 single base substitution G C missense_variant S498W 1493C>G LUSC-US 3 167246922 167246922 single base substitution G C missense_variant S60W 179C>G LUSC-US 3 167248946 167248946 single base substitution C A downstream_gene_variant LUSC-US 3 167248946 167248946 single base substitution C A intron_variant LUSC-US 3 167248946 167248946 single base substitution C A missense_variant M10I 30G>T LUSC-US 3 167248946 167248946 single base substitution C A missense_variant M198I 594G>T LUSC-US 3 167248946 167248946 single base substitution C A missense_variant M373I 1119G>T LUSC-US 3 167248946 167248946 single base substitution C A missense_variant M437I 1311G>T LUSC-US 3 167248946 167248946 single base substitution C A missense_variant M448I 1344G>T LUSC-US 3 167248976 167248976 single base substitution C T 5_prime_UTR_variant LUSC-US 3 167248976 167248976 single base substitution C T downstream_gene_variant LUSC-US 3 167248976 167248976 single base substitution C T intron_variant LUSC-US 3 167248976 167248976 single base substitution C T synonymous_variant E188E 564G>A LUSC-US 3 167248976 167248976 single base substitution C T synonymous_variant E363E 1089G>A LUSC-US 3 167248976 167248976 single base substitution C T synonymous_variant E427E 1281G>A LUSC-US 3 167248976 167248976 single base substitution C T synonymous_variant E438E 1314G>A LUSC-US 3 167254726 167254726 single base substitution T A 3_prime_UTR_variant LUSC-US 3 167254726 167254726 single base substitution T A intron_variant LUSC-US 3 167254726 167254726 single base substitution T A missense_variant K102I 305A>T LUSC-US 3 167254726 167254726 single base substitution T A missense_variant K277I 830A>T LUSC-US 3 167254726 167254726 single base substitution T A missense_variant K341I 1022A>T LUSC-US 3 167254726 167254726 single base substitution T A missense_variant K352I 1055A>T LUSC-US 3 167272570 167272570 single base substitution C A intron_variant LUSC-US 3 167272570 167272570 single base substitution C A missense_variant G116V 347G>T LUSC-US 3 167272570 167272570 single base substitution C A missense_variant G223V 668G>T LUSC-US 3 167272570 167272570 single base substitution C A missense_variant G276V 827G>T LUSC-US 3 167272570 167272570 single base substitution C A missense_variant G287V 860G>T LUSC-US 3 167272570 167272570 single base substitution C A missense_variant G48V 143G>T LUSC-US 3 167293742 167293742 single base substitution T A 3_prime_UTR_variant LUSC-US 3 167293742 167293742 single base substitution T A intron_variant LUSC-US 3 167293742 167293742 single base substitution T A synonymous_variant A150A 450A>T LUSC-US 3 167293742 167293742 single base substitution T A synonymous_variant A203A 609A>T LUSC-US 3 167293742 167293742 single base substitution T A synonymous_variant A214A 642A>T LUSC-US 3 167293742 167293742 single base substitution T A synonymous_variant A491A 1473A>T LUSC-US 3 167293742 167293742 single base substitution T A upstream_gene_variant MALY-DE 3 167192319 167192319 single base substitution T G downstream_gene_variant MALY-DE 3 167193422 167193422 single base substitution A C downstream_gene_variant MALY-DE 3 167193450 167193450 single base substitution A C downstream_gene_variant MALY-DE 3 167193791 167193791 insertion of <=200bp - T downstream_gene_variant MALY-DE 3 167200005 167200005 single base substitution T C intron_variant MALY-DE 3 167202510 167202510 single base substitution T C intron_variant MALY-DE 3 167204655 167204655 single base substitution T G intron_variant MALY-DE 3 167205306 167205306 single base substitution A G intron_variant MALY-DE 3 167206605 167206605 single base substitution C T intron_variant MALY-DE 3 167206752 167206752 single base substitution T G intron_variant MALY-DE 3 167211149 167211149 single base substitution G C intron_variant MALY-DE 3 167212264 167212264 single base substitution A C intron_variant MALY-DE 3 167215673 167215673 single base substitution T A intron_variant MALY-DE 3 167217325 167217325 single base substitution G A intron_variant MALY-DE 3 167218840 167218840 single base substitution C A intron_variant MALY-DE 3 167219819 167219819 single base substitution G C intron_variant MALY-DE 3 167220675 167220675 single base substitution A T intron_variant MALY-DE 3 167223287 167223287 insertion of <=200bp - A intron_variant MALY-DE 3 167224421 167224421 single base substitution T C intron_variant MALY-DE 3 167226885 167226885 single base substitution T C intron_variant MALY-DE 3 167228578 167228578 single base substitution T A intron_variant MALY-DE 3 167233594 167233594 single base substitution G C intron_variant MALY-DE 3 167235278 167235278 single base substitution T C downstream_gene_variant MALY-DE 3 167235278 167235278 single base substitution T C intron_variant MALY-DE 3 167237988 167237988 single base substitution T C downstream_gene_variant MALY-DE 3 167237988 167237988 single base substitution T C intron_variant MALY-DE 3 167239918 167239918 single base substitution A G downstream_gene_variant MALY-DE 3 167239918 167239918 single base substitution A G intron_variant MALY-DE 3 167241087 167241087 deletion of <=200bp A - intron_variant MALY-DE 3 167243978 167243978 deletion of <=200bp A - intron_variant MALY-DE 3 167244452 167244452 single base substitution G T intron_variant MALY-DE 3 167251822 167251822 insertion of <=200bp - A intron_variant MALY-DE 3 167251822 167251822 insertion of <=200bp - A upstream_gene_variant MALY-DE 3 167255208 167255208 single base substitution T G intron_variant MALY-DE 3 167255988 167255988 single base substitution G T intron_variant MALY-DE 3 167256060 167256060 single base substitution A G intron_variant MALY-DE 3 167256473 167256473 single base substitution T A intron_variant MALY-DE 3 167257791 167257791 single base substitution C G intron_variant MALY-DE 3 167258433 167258433 single base substitution T A intron_variant MALY-DE 3 167261910 167261910 single base substitution T C intron_variant MALY-DE 3 167264738 167264738 single base substitution C T intron_variant MALY-DE 3 167267223 167267223 single base substitution G A intron_variant MALY-DE 3 167270990 167270990 single base substitution A C downstream_gene_variant MALY-DE 3 167270990 167270990 single base substitution A C intron_variant MALY-DE 3 167271524 167271524 single base substitution G T downstream_gene_variant MALY-DE 3 167271524 167271524 single base substitution G T intron_variant MALY-DE 3 167271581 167271581 single base substitution T A downstream_gene_variant MALY-DE 3 167271581 167271581 single base substitution T A intron_variant MALY-DE 3 167271952 167271952 single base substitution G A downstream_gene_variant MALY-DE 3 167271952 167271952 single base substitution G A intron_variant MALY-DE 3 167272169 167272169 single base substitution T G downstream_gene_variant MALY-DE 3 167272169 167272169 single base substitution T G intron_variant MALY-DE 3 167275767 167275767 single base substitution A C intron_variant MALY-DE 3 167277376 167277376 single base substitution A G intron_variant MALY-DE 3 167277824 167277824 single base substitution G T intron_variant MALY-DE 3 167283631 167283631 insertion of <=200bp - A intron_variant MALY-DE 3 167285497 167285497 single base substitution A G intron_variant MALY-DE 3 167286078 167286078 single base substitution A C intron_variant MALY-DE 3 167286554 167286554 single base substitution G A intron_variant MALY-DE 3 167292349 167292349 single base substitution G A intron_variant MALY-DE 3 167297059 167297059 single base substitution A G intron_variant MALY-DE 3 167297059 167297059 single base substitution A G upstream_gene_variant MALY-DE 3 167298912 167298912 single base substitution A C intron_variant MALY-DE 3 167300805 167300805 single base substitution G A intron_variant MALY-DE 3 167307667 167307667 single base substitution T C intron_variant MALY-DE 3 167314694 167314694 single base substitution A T intron_variant MALY-DE 3 167316252 167316252 single base substitution G A intron_variant MALY-DE 3 167321681 167321682 deletion of <=200bp TG - intron_variant MALY-DE 3 167321852 167321852 deletion of <=200bp A - intron_variant MALY-DE 3 167321852 167321852 single base substitution A T intron_variant MALY-DE 3 167322892 167322893 deletion of <=200bp AC - intron_variant MALY-DE 3 167323755 167323755 single base substitution A C intron_variant MALY-DE 3 167329834 167329834 single base substitution G T intron_variant MALY-DE 3 167335349 167335349 insertion of <=200bp - T downstream_gene_variant MALY-DE 3 167335349 167335349 insertion of <=200bp - T intron_variant MALY-DE 3 167337757 167337757 deletion of <=200bp A - downstream_gene_variant MALY-DE 3 167337757 167337757 deletion of <=200bp A - intron_variant MALY-DE 3 167339069 167339069 single base substitution T A downstream_gene_variant MALY-DE 3 167339069 167339069 single base substitution T A intron_variant MALY-DE 3 167339069 167339069 single base substitution T A upstream_gene_variant MALY-DE 3 167345382 167345382 single base substitution C T intron_variant MALY-DE 3 167348909 167348909 single base substitution T G intron_variant MALY-DE 3 167350877 167350878 deletion of <=200bp GT - intron_variant MALY-DE 3 167359177 167359177 single base substitution G A intron_variant MALY-DE 3 167359837 167359837 single base substitution G T intron_variant MALY-DE 3 167359933 167359933 single base substitution C A intron_variant MALY-DE 3 167360929 167360929 single base substitution A C intron_variant MALY-DE 3 167364734 167364734 single base substitution A G intron_variant MALY-DE 3 167366069 167366069 single base substitution T G intron_variant MALY-DE 3 167366454 167366454 single base substitution T G intron_variant MALY-DE 3 167371028 167371028 single base substitution G A intron_variant MALY-DE 3 167373717 167373717 single base substitution A C upstream_gene_variant MELA-AU 3 167191679 167191679 single base substitution G A downstream_gene_variant MELA-AU 3 167191823 167191823 single base substitution T C downstream_gene_variant MELA-AU 3 167192252 167192252 single base substitution G A downstream_gene_variant MELA-AU 3 167192348 167192348 single base substitution C T downstream_gene_variant MELA-AU 3 167192564 167192564 single base substitution G A downstream_gene_variant MELA-AU 3 167192638 167192638 single base substitution C T downstream_gene_variant MELA-AU 3 167192694 167192694 single base substitution G A downstream_gene_variant MELA-AU 3 167192812 167192812 single base substitution C T downstream_gene_variant MELA-AU 3 167193014 167193014 single base substitution C T downstream_gene_variant MELA-AU 3 167193037 167193037 single base substitution G A downstream_gene_variant MELA-AU 3 167193186 167193186 single base substitution T C downstream_gene_variant MELA-AU 3 167193291 167193291 single base substitution T C downstream_gene_variant MELA-AU 3 167193511 167193511 single base substitution C T downstream_gene_variant MELA-AU 3 167193570 167193570 single base substitution C T downstream_gene_variant MELA-AU 3 167193643 167193643 single base substitution C T downstream_gene_variant MELA-AU 3 167193700 167193700 single base substitution C T downstream_gene_variant MELA-AU 3 167193834 167193834 single base substitution A C downstream_gene_variant MELA-AU 3 167193966 167193966 single base substitution A T downstream_gene_variant MELA-AU 3 167194034 167194034 single base substitution T C downstream_gene_variant MELA-AU 3 167194111 167194111 single base substitution A T downstream_gene_variant MELA-AU 3 167194259 167194259 single base substitution G A downstream_gene_variant MELA-AU 3 167194275 167194275 single base substitution G A downstream_gene_variant MELA-AU 3 167194643 167194643 single base substitution G A downstream_gene_variant MELA-AU 3 167194667 167194667 single base substitution G A downstream_gene_variant MELA-AU 3 167194773 167194773 single base substitution C T downstream_gene_variant MELA-AU 3 167195085 167195085 single base substitution A G downstream_gene_variant MELA-AU 3 167195157 167195157 single base substitution C T downstream_gene_variant MELA-AU 3 167195163 167195163 single base substitution C T downstream_gene_variant MELA-AU 3 167195355 167195355 single base substitution G A downstream_gene_variant MELA-AU 3 167195367 167195367 single base substitution G A downstream_gene_variant MELA-AU 3 167195682 167195682 single base substitution C T downstream_gene_variant MELA-AU 3 167195785 167195785 single base substitution G A downstream_gene_variant MELA-AU 3 167196079 167196079 single base substitution A T downstream_gene_variant MELA-AU 3 167196305 167196305 single base substitution C T downstream_gene_variant MELA-AU 3 167196380 167196380 single base substitution A G downstream_gene_variant MELA-AU 3 167196400 167196400 single base substitution G A downstream_gene_variant MELA-AU 3 167196519 167196519 single base substitution G A 3_prime_UTR_variant MELA-AU 3 167196546 167196546 single base substitution C T 3_prime_UTR_variant MELA-AU 3 167196724 167196724 single base substitution C T 3_prime_UTR_variant MELA-AU 3 167196724 167196724 single base substitution C T missense_variant R504Q 1511G>A MELA-AU 3 167196724 167196724 single base substitution C T missense_variant R644Q 1931G>A MELA-AU 3 167196724 167196724 single base substitution C T missense_variant R655Q 1964G>A MELA-AU 3 167196724 167196724 single base substitution C T missense_variant R679Q 2036G>A MELA-AU 3 167196743 167196743 single base substitution C T 3_prime_UTR_variant MELA-AU 3 167196743 167196743 single base substitution C T missense_variant E498K 1492G>A MELA-AU 3 167196743 167196743 single base substitution C T missense_variant E638K 1912G>A MELA-AU 3 167196743 167196743 single base substitution C T missense_variant E649K 1945G>A MELA-AU 3 167196743 167196743 single base substitution C T missense_variant E673K 2017G>A MELA-AU 3 167196749 167196749 single base substitution G A 3_prime_UTR_variant MELA-AU 3 167196749 167196749 single base substitution G A missense_variant P496S 1486C>T MELA-AU 3 167196749 167196749 single base substitution G A missense_variant P636S 1906C>T MELA-AU 3 167196749 167196749 single base substitution G A missense_variant P647S 1939C>T MELA-AU 3 167196749 167196749 single base substitution G A missense_variant P671S 2011C>T MELA-AU 3 167196764 167196764 single base substitution C T 3_prime_UTR_variant MELA-AU 3 167196764 167196764 single base substitution C T missense_variant E491K 1471G>A MELA-AU 3 167196764 167196764 single base substitution C T missense_variant E631K 1891G>A MELA-AU 3 167196764 167196764 single base substitution C T missense_variant E642K 1924G>A MELA-AU 3 167196764 167196764 single base substitution C T missense_variant E666K 1996G>A MELA-AU 3 167196794 167196794 single base substitution G A intron_variant MELA-AU 3 167196844 167196844 single base substitution G A intron_variant MELA-AU 3 167196928 167196928 single base substitution C T intron_variant MELA-AU 3 167196995 167196995 single base substitution C T intron_variant MELA-AU 3 167197127 167197127 single base substitution C T intron_variant MELA-AU 3 167197134 167197134 single base substitution G A intron_variant MELA-AU 3 167197231 167197231 single base substitution G A intron_variant MELA-AU 3 167197240 167197240 single base substitution G A intron_variant MELA-AU 3 167197403 167197403 single base substitution A C intron_variant MELA-AU 3 167197451 167197451 single base substitution G A intron_variant MELA-AU 3 167197485 167197485 single base substitution C T intron_variant MELA-AU 3 167197502 167197502 single base substitution C T intron_variant MELA-AU 3 167197571 167197571 single base substitution G A intron_variant MELA-AU 3 167197626 167197626 single base substitution C T intron_variant MELA-AU 3 167197691 167197691 single base substitution G A intron_variant MELA-AU 3 167197707 167197707 single base substitution G A intron_variant MELA-AU 3 167197794 167197794 single base substitution G A intron_variant MELA-AU 3 167197816 167197816 single base substitution C T intron_variant MELA-AU 3 167197986 167197986 single base substitution G A intron_variant MELA-AU 3 167198164 167198164 single base substitution G A intron_variant MELA-AU 3 167198273 167198273 single base substitution G A intron_variant MELA-AU 3 167198287 167198287 single base substitution C T intron_variant MELA-AU 3 167198492 167198492 single base substitution G A intron_variant MELA-AU 3 167198493 167198493 single base substitution C T intron_variant MELA-AU 3 167198518 167198518 single base substitution G A intron_variant MELA-AU 3 167198526 167198526 single base substitution G A intron_variant MELA-AU 3 167198579 167198579 single base substitution G A intron_variant MELA-AU 3 167198615 167198615 single base substitution G A intron_variant MELA-AU 3 167198634 167198634 single base substitution C T intron_variant MELA-AU 3 167198658 167198658 single base substitution G A intron_variant MELA-AU 3 167198738 167198738 single base substitution C T intron_variant MELA-AU 3 167198804 167198804 single base substitution C T intron_variant MELA-AU 3 167198834 167198834 single base substitution G A intron_variant MELA-AU 3 167198967 167198967 single base substitution G A intron_variant MELA-AU 3 167199174 167199174 single base substitution G A intron_variant MELA-AU 3 167199194 167199194 single base substitution G A intron_variant MELA-AU 3 167199242 167199242 single base substitution T C intron_variant MELA-AU 3 167199261 167199261 single base substitution A T intron_variant MELA-AU 3 167199326 167199326 single base substitution G A intron_variant MELA-AU 3 167199393 167199393 single base substitution G A intron_variant MELA-AU 3 167199470 167199470 single base substitution G A intron_variant MELA-AU 3 167199520 167199520 single base substitution G A intron_variant MELA-AU 3 167199548 167199548 single base substitution C T intron_variant MELA-AU 3 167199603 167199603 single base substitution G A intron_variant MELA-AU 3 167199735 167199735 single base substitution G A intron_variant MELA-AU 3 167200009 167200009 single base substitution G A intron_variant MELA-AU 3 167200085 167200085 single base substitution C T intron_variant MELA-AU 3 167200153 167200153 single base substitution G A intron_variant MELA-AU 3 167200243 167200243 single base substitution G A intron_variant MELA-AU 3 167200253 167200253 single base substitution C T intron_variant MELA-AU 3 167200256 167200256 single base substitution G A intron_variant MELA-AU 3 167200262 167200262 single base substitution C T intron_variant MELA-AU 3 167200360 167200360 single base substitution G T intron_variant MELA-AU 3 167200454 167200454 single base substitution G A intron_variant MELA-AU 3 167200456 167200456 single base substitution G A intron_variant MELA-AU 3 167200759 167200759 single base substitution T G intron_variant MELA-AU 3 167200775 167200775 single base substitution G A intron_variant MELA-AU 3 167200886 167200886 single base substitution A T intron_variant MELA-AU 3 167201125 167201125 single base substitution G A intron_variant MELA-AU 3 167201173 167201173 single base substitution C T intron_variant MELA-AU 3 167201247 167201247 single base substitution G A intron_variant MELA-AU 3 167201586 167201586 single base substitution C T intron_variant MELA-AU 3 167201616 167201616 single base substitution T C intron_variant MELA-AU 3 167201642 167201642 single base substitution C T intron_variant MELA-AU 3 167201772 167201772 single base substitution G A intron_variant MELA-AU 3 167201782 167201782 single base substitution G A intron_variant MELA-AU 3 167202023 167202023 single base substitution C T intron_variant MELA-AU 3 167202179 167202179 single base substitution C T intron_variant MELA-AU 3 167202386 167202386 single base substitution A G intron_variant MELA-AU 3 167202427 167202427 single base substitution C T intron_variant MELA-AU 3 167202539 167202539 single base substitution C T intron_variant MELA-AU 3 167202555 167202555 single base substitution G A intron_variant MELA-AU 3 167202644 167202644 single base substitution G A intron_variant MELA-AU 3 167202818 167202818 single base substitution C T intron_variant MELA-AU 3 167202842 167202842 single base substitution G A intron_variant MELA-AU 3 167203083 167203083 single base substitution G A intron_variant MELA-AU 3 167203129 167203129 single base substitution C T intron_variant MELA-AU 3 167203242 167203242 single base substitution G A intron_variant MELA-AU 3 167203277 167203277 single base substitution C T intron_variant MELA-AU 3 167203294 167203294 single base substitution G A intron_variant MELA-AU 3 167203303 167203303 single base substitution G A intron_variant MELA-AU 3 167203307 167203307 single base substitution C T intron_variant MELA-AU 3 167203426 167203426 single base substitution G A intron_variant MELA-AU 3 167203467 167203467 single base substitution G A intron_variant MELA-AU 3 167203526 167203526 single base substitution C T intron_variant MELA-AU 3 167203564 167203564 single base substitution G A intron_variant MELA-AU 3 167203695 167203695 single base substitution G A intron_variant MELA-AU 3 167203716 167203716 single base substitution G A intron_variant MELA-AU 3 167203721 167203721 single base substitution C T intron_variant MELA-AU 3 167203866 167203866 single base substitution G A intron_variant MELA-AU 3 167203927 167203927 single base substitution C T intron_variant MELA-AU 3 167203966 167203966 single base substitution C T intron_variant MELA-AU 3 167204070 167204070 single base substitution C T intron_variant MELA-AU 3 167204264 167204264 single base substitution A T intron_variant MELA-AU 3 167204270 167204270 single base substitution C T intron_variant MELA-AU 3 167204288 167204288 single base substitution C T intron_variant MELA-AU 3 167204358 167204358 single base substitution G A intron_variant MELA-AU 3 167204383 167204383 single base substitution G A intron_variant MELA-AU 3 167204393 167204393 single base substitution C T intron_variant MELA-AU 3 167204395 167204395 single base substitution T A intron_variant MELA-AU 3 167204692 167204692 single base substitution C A intron_variant MELA-AU 3 167204804 167204804 single base substitution G A intron_variant MELA-AU 3 167204823 167204823 single base substitution C T intron_variant MELA-AU 3 167204861 167204861 single base substitution G A intron_variant MELA-AU 3 167204876 167204876 single base substitution A T intron_variant MELA-AU 3 167204890 167204890 single base substitution G A intron_variant MELA-AU 3 167205205 167205205 single base substitution G A intron_variant MELA-AU 3 167205206 167205206 single base substitution G A intron_variant MELA-AU 3 167205236 167205236 single base substitution C T intron_variant MELA-AU 3 167205291 167205291 single base substitution G A intron_variant MELA-AU 3 167205504 167205504 single base substitution G A intron_variant MELA-AU 3 167205558 167205558 single base substitution G A intron_variant MELA-AU 3 167205588 167205588 single base substitution G A intron_variant MELA-AU 3 167205653 167205653 single base substitution A G intron_variant MELA-AU 3 167205690 167205690 single base substitution G A intron_variant MELA-AU 3 167205740 167205740 single base substitution G A intron_variant MELA-AU 3 167205896 167205896 single base substitution C T intron_variant MELA-AU 3 167205915 167205915 single base substitution G A intron_variant MELA-AU 3 167205923 167205923 single base substitution G A intron_variant MELA-AU 3 167206153 167206153 single base substitution G A intron_variant MELA-AU 3 167206187 167206187 single base substitution G A intron_variant MELA-AU 3 167206191 167206191 single base substitution G A intron_variant MELA-AU 3 167206199 167206199 single base substitution G A intron_variant MELA-AU 3 167206219 167206219 single base substitution C T intron_variant MELA-AU 3 167206251 167206251 single base substitution A T intron_variant MELA-AU 3 167206382 167206382 single base substitution G A intron_variant MELA-AU 3 167206495 167206495 single base substitution G A intron_variant MELA-AU 3 167206603 167206604 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 167206614 167206614 single base substitution C T intron_variant MELA-AU 3 167206743 167206743 single base substitution T G intron_variant MELA-AU 3 167206764 167206764 single base substitution G A intron_variant MELA-AU 3 167206900 167206900 single base substitution T C intron_variant MELA-AU 3 167206976 167206976 single base substitution C T intron_variant MELA-AU 3 167206997 167206997 single base substitution C T intron_variant MELA-AU 3 167207059 167207059 single base substitution G A intron_variant MELA-AU 3 167207225 167207225 single base substitution G A intron_variant MELA-AU 3 167207353 167207353 single base substitution C T intron_variant MELA-AU 3 167207368 167207368 single base substitution G A intron_variant MELA-AU 3 167207420 167207420 single base substitution G A intron_variant MELA-AU 3 167207510 167207510 single base substitution G A intron_variant MELA-AU 3 167207622 167207622 single base substitution C T intron_variant MELA-AU 3 167207691 167207691 single base substitution C G intron_variant MELA-AU 3 167207944 167207944 single base substitution G A intron_variant MELA-AU 3 167208016 167208016 single base substitution G A intron_variant MELA-AU 3 167208296 167208296 single base substitution C T intron_variant MELA-AU 3 167208336 167208336 single base substitution G A intron_variant MELA-AU 3 167208422 167208422 single base substitution T A intron_variant MELA-AU 3 167208528 167208528 single base substitution C T intron_variant MELA-AU 3 167208627 167208627 single base substitution C T intron_variant MELA-AU 3 167208630 167208631 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 167208645 167208645 single base substitution G A intron_variant MELA-AU 3 167208662 167208662 single base substitution T C intron_variant MELA-AU 3 167208713 167208713 single base substitution C G intron_variant MELA-AU 3 167208772 167208772 single base substitution C T intron_variant MELA-AU 3 167208823 167208823 single base substitution C T intron_variant MELA-AU 3 167208824 167208824 single base substitution C T intron_variant MELA-AU 3 167208872 167208872 single base substitution C T intron_variant MELA-AU 3 167208957 167208957 single base substitution C T intron_variant MELA-AU 3 167209061 167209061 single base substitution G A intron_variant MELA-AU 3 167209139 167209139 single base substitution A G intron_variant MELA-AU 3 167209152 167209152 single base substitution C T intron_variant MELA-AU 3 167209184 167209184 single base substitution C T intron_variant MELA-AU 3 167209194 167209194 single base substitution T A intron_variant MELA-AU 3 167209216 167209216 single base substitution C T intron_variant MELA-AU 3 167209292 167209292 single base substitution T G intron_variant MELA-AU 3 167209322 167209322 single base substitution C T intron_variant MELA-AU 3 167209420 167209420 single base substitution G A intron_variant MELA-AU 3 167209454 167209454 single base substitution C T intron_variant MELA-AU 3 167209498 167209498 single base substitution G A intron_variant MELA-AU 3 167209561 167209561 single base substitution C T intron_variant MELA-AU 3 167209615 167209615 single base substitution G A intron_variant MELA-AU 3 167209634 167209634 single base substitution G A intron_variant MELA-AU 3 167209978 167209978 single base substitution T A intron_variant MELA-AU 3 167209980 167209980 single base substitution C T intron_variant MELA-AU 3 167209989 167209989 single base substitution C T intron_variant MELA-AU 3 167210000 167210000 single base substitution G A intron_variant MELA-AU 3 167210005 167210005 single base substitution G A intron_variant MELA-AU 3 167210164 167210164 single base substitution G A intron_variant MELA-AU 3 167210267 167210267 single base substitution G A intron_variant MELA-AU 3 167210447 167210447 single base substitution C T intron_variant MELA-AU 3 167210527 167210527 single base substitution G A intron_variant MELA-AU 3 167210552 167210552 single base substitution C T intron_variant MELA-AU 3 167210569 167210569 single base substitution C T intron_variant MELA-AU 3 167210614 167210614 single base substitution A T intron_variant MELA-AU 3 167210635 167210635 single base substitution C T intron_variant MELA-AU 3 167210815 167210815 single base substitution C T intron_variant MELA-AU 3 167210885 167210885 single base substitution G A intron_variant MELA-AU 3 167210934 167210934 single base substitution C T intron_variant MELA-AU 3 167210951 167210951 single base substitution C T intron_variant MELA-AU 3 167211001 167211001 single base substitution G A intron_variant MELA-AU 3 167211038 167211038 single base substitution G A intron_variant MELA-AU 3 167211067 167211067 single base substitution C G intron_variant MELA-AU 3 167211162 167211162 single base substitution C T intron_variant MELA-AU 3 167211225 167211225 single base substitution C T intron_variant MELA-AU 3 167211231 167211231 single base substitution G A intron_variant MELA-AU 3 167211250 167211250 single base substitution C T intron_variant MELA-AU 3 167211289 167211289 single base substitution C T intron_variant MELA-AU 3 167211382 167211382 single base substitution A G intron_variant MELA-AU 3 167211395 167211395 single base substitution C A intron_variant MELA-AU 3 167211519 167211519 single base substitution T G intron_variant MELA-AU 3 167211562 167211562 single base substitution C T intron_variant MELA-AU 3 167211675 167211675 single base substitution C T intron_variant MELA-AU 3 167211698 167211698 single base substitution C T intron_variant MELA-AU 3 167211803 167211803 single base substitution C T intron_variant MELA-AU 3 167211831 167211831 single base substitution C T intron_variant MELA-AU 3 167211850 167211850 single base substitution C T intron_variant MELA-AU 3 167211859 167211859 single base substitution C T intron_variant MELA-AU 3 167211923 167211923 single base substitution A G intron_variant MELA-AU 3 167212071 167212071 single base substitution C T intron_variant MELA-AU 3 167212202 167212202 single base substitution C T intron_variant MELA-AU 3 167212260 167212260 single base substitution G A intron_variant MELA-AU 3 167212274 167212274 single base substitution G A intron_variant MELA-AU 3 167212399 167212399 single base substitution C T intron_variant MELA-AU 3 167212459 167212459 single base substitution G A intron_variant MELA-AU 3 167212678 167212678 single base substitution G A intron_variant MELA-AU 3 167212680 167212680 single base substitution G A intron_variant MELA-AU 3 167212848 167212848 single base substitution T G intron_variant MELA-AU 3 167212972 167212972 single base substitution G A intron_variant MELA-AU 3 167212973 167212973 single base substitution G A intron_variant MELA-AU 3 167213043 167213043 single base substitution G A intron_variant MELA-AU 3 167213046 167213046 single base substitution G A intron_variant MELA-AU 3 167213047 167213047 single base substitution G A intron_variant MELA-AU 3 167213112 167213112 single base substitution A G intron_variant MELA-AU 3 167213264 167213264 single base substitution G A intron_variant MELA-AU 3 167213403 167213403 single base substitution G A intron_variant MELA-AU 3 167213415 167213415 single base substitution A C intron_variant MELA-AU 3 167213613 167213613 single base substitution G C intron_variant MELA-AU 3 167213759 167213759 single base substitution G A intron_variant MELA-AU 3 167213844 167213844 single base substitution C T intron_variant MELA-AU 3 167213873 167213873 single base substitution G A intron_variant MELA-AU 3 167214029 167214029 single base substitution C T intron_variant MELA-AU 3 167214106 167214106 single base substitution A G intron_variant MELA-AU 3 167214142 167214142 single base substitution C T intron_variant MELA-AU 3 167214258 167214258 single base substitution T A intron_variant MELA-AU 3 167214319 167214319 single base substitution C T intron_variant MELA-AU 3 167214321 167214321 single base substitution C T intron_variant MELA-AU 3 167214562 167214562 single base substitution C T intron_variant MELA-AU 3 167214825 167214825 single base substitution C T intron_variant MELA-AU 3 167214931 167214931 single base substitution C T intron_variant MELA-AU 3 167214971 167214971 single base substitution C T intron_variant MELA-AU 3 167214987 167214987 single base substitution C T intron_variant MELA-AU 3 167215125 167215125 single base substitution G A intron_variant MELA-AU 3 167215133 167215133 single base substitution G A intron_variant MELA-AU 3 167215185 167215185 single base substitution G A intron_variant MELA-AU 3 167215197 167215197 single base substitution G A intron_variant MELA-AU 3 167215221 167215221 single base substitution G A intron_variant MELA-AU 3 167215224 167215224 single base substitution A T intron_variant MELA-AU 3 167215226 167215226 single base substitution A C intron_variant MELA-AU 3 167215294 167215294 single base substitution C A intron_variant MELA-AU 3 167215298 167215298 single base substitution T A intron_variant MELA-AU 3 167215314 167215314 single base substitution C T intron_variant MELA-AU 3 167215326 167215326 single base substitution G A intron_variant MELA-AU 3 167215346 167215346 single base substitution C T intron_variant MELA-AU 3 167215457 167215457 single base substitution T C intron_variant MELA-AU 3 167215461 167215461 single base substitution G A intron_variant MELA-AU 3 167215510 167215510 single base substitution C T intron_variant MELA-AU 3 167215764 167215764 single base substitution G A intron_variant MELA-AU 3 167215897 167215897 single base substitution G A intron_variant MELA-AU 3 167215935 167215935 single base substitution C T intron_variant MELA-AU 3 167215939 167215939 single base substitution C T intron_variant MELA-AU 3 167215948 167215948 single base substitution G A intron_variant MELA-AU 3 167215972 167215972 single base substitution G A intron_variant MELA-AU 3 167216081 167216081 single base substitution G A intron_variant MELA-AU 3 167216139 167216139 single base substitution G A intron_variant MELA-AU 3 167216197 167216197 single base substitution C T intron_variant MELA-AU 3 167216215 167216215 single base substitution G A intron_variant MELA-AU 3 167216272 167216272 single base substitution G A intron_variant MELA-AU 3 167216355 167216355 single base substitution G A intron_variant MELA-AU 3 167216597 167216597 single base substitution G A intron_variant MELA-AU 3 167216628 167216628 single base substitution G A intron_variant MELA-AU 3 167216655 167216655 single base substitution G A intron_variant MELA-AU 3 167216678 167216678 single base substitution G A intron_variant MELA-AU 3 167216701 167216701 single base substitution C T intron_variant MELA-AU 3 167216816 167216816 single base substitution G A intron_variant MELA-AU 3 167217007 167217007 single base substitution C T intron_variant MELA-AU 3 167217065 167217065 single base substitution A C intron_variant MELA-AU 3 167217067 167217067 single base substitution G A intron_variant MELA-AU 3 167217205 167217205 single base substitution G A intron_variant MELA-AU 3 167217289 167217289 single base substitution G A intron_variant MELA-AU 3 167217391 167217391 single base substitution G A intron_variant MELA-AU 3 167217465 167217465 single base substitution G A intron_variant MELA-AU 3 167217747 167217747 single base substitution C T intron_variant MELA-AU 3 167217933 167217933 single base substitution G A intron_variant MELA-AU 3 167217933 167217933 single base substitution G A splice_region_variant MELA-AU 3 167217963 167217963 single base substitution C T intron_variant MELA-AU 3 167217963 167217963 single base substitution C T synonymous_variant L476L 1428G>A MELA-AU 3 167217963 167217963 single base substitution C T synonymous_variant L616L 1848G>A MELA-AU 3 167217963 167217963 single base substitution C T synonymous_variant L627L 1881G>A MELA-AU 3 167217963 167217963 single base substitution C T synonymous_variant L651L 1953G>A MELA-AU 3 167217972 167217972 single base substitution G A intron_variant MELA-AU 3 167217972 167217972 single base substitution G A synonymous_variant P473P 1419C>T MELA-AU 3 167217972 167217972 single base substitution G A synonymous_variant P613P 1839C>T MELA-AU 3 167217972 167217972 single base substitution G A synonymous_variant P624P 1872C>T MELA-AU 3 167217972 167217972 single base substitution G A synonymous_variant P648P 1944C>T MELA-AU 3 167217982 167217982 single base substitution T A intron_variant MELA-AU 3 167217982 167217982 single base substitution T A missense_variant E470V 1409A>T MELA-AU 3 167217982 167217982 single base substitution T A missense_variant E610V 1829A>T MELA-AU 3 167217982 167217982 single base substitution T A missense_variant E621V 1862A>T MELA-AU 3 167217982 167217982 single base substitution T A missense_variant E645V 1934A>T MELA-AU 3 167217983 167217983 single base substitution C T intron_variant MELA-AU 3 167217983 167217983 single base substitution C T missense_variant E470K 1408G>A MELA-AU 3 167217983 167217983 single base substitution C T missense_variant E610K 1828G>A MELA-AU 3 167217983 167217983 single base substitution C T missense_variant E621K 1861G>A MELA-AU 3 167217983 167217983 single base substitution C T missense_variant E645K 1933G>A MELA-AU 3 167218023 167218023 single base substitution G A intron_variant MELA-AU 3 167218023 167218023 single base substitution G A synonymous_variant F456F 1368C>T MELA-AU 3 167218023 167218023 single base substitution G A synonymous_variant F596F 1788C>T MELA-AU 3 167218023 167218023 single base substitution G A synonymous_variant F607F 1821C>T MELA-AU 3 167218023 167218023 single base substitution G A synonymous_variant F631F 1893C>T MELA-AU 3 167218050 167218050 single base substitution C T intron_variant MELA-AU 3 167218050 167218050 single base substitution C T synonymous_variant E447E 1341G>A MELA-AU 3 167218050 167218050 single base substitution C T synonymous_variant E587E 1761G>A MELA-AU 3 167218050 167218050 single base substitution C T synonymous_variant E598E 1794G>A MELA-AU 3 167218050 167218050 single base substitution C T synonymous_variant E622E 1866G>A MELA-AU 3 167218111 167218111 single base substitution G A intron_variant MELA-AU 3 167218129 167218129 single base substitution G A intron_variant MELA-AU 3 167218139 167218139 single base substitution C T intron_variant MELA-AU 3 167218152 167218152 single base substitution G A intron_variant MELA-AU 3 167218275 167218275 single base substitution T C intron_variant MELA-AU 3 167218297 167218297 single base substitution G A intron_variant MELA-AU 3 167218348 167218348 single base substitution T A intron_variant MELA-AU 3 167218350 167218350 single base substitution C T intron_variant MELA-AU 3 167218363 167218363 single base substitution A G intron_variant MELA-AU 3 167218409 167218409 single base substitution G A intron_variant MELA-AU 3 167218427 167218427 single base substitution G A intron_variant MELA-AU 3 167218613 167218613 single base substitution A T intron_variant MELA-AU 3 167218670 167218670 single base substitution G A intron_variant MELA-AU 3 167218716 167218716 single base substitution G A intron_variant MELA-AU 3 167218754 167218754 single base substitution G A intron_variant MELA-AU 3 167218840 167218840 single base substitution C A intron_variant MELA-AU 3 167218930 167218930 single base substitution A T intron_variant MELA-AU 3 167218934 167218934 single base substitution C T intron_variant MELA-AU 3 167218984 167218984 single base substitution G A intron_variant MELA-AU 3 167219040 167219040 single base substitution C T intron_variant MELA-AU 3 167219061 167219061 single base substitution G A intron_variant MELA-AU 3 167219076 167219076 single base substitution G A intron_variant MELA-AU 3 167219103 167219103 single base substitution C T intron_variant MELA-AU 3 167219426 167219426 single base substitution G A intron_variant MELA-AU 3 167219659 167219659 single base substitution G A intron_variant MELA-AU 3 167219726 167219726 single base substitution C T intron_variant MELA-AU 3 167219839 167219839 single base substitution C T intron_variant MELA-AU 3 167219974 167219974 single base substitution C T intron_variant MELA-AU 3 167219980 167219980 single base substitution C T intron_variant MELA-AU 3 167220072 167220072 single base substitution C T intron_variant MELA-AU 3 167220092 167220092 single base substitution T C intron_variant MELA-AU 3 167220286 167220286 single base substitution T C intron_variant MELA-AU 3 167220370 167220370 single base substitution G A intron_variant MELA-AU 3 167220436 167220436 single base substitution C T intron_variant MELA-AU 3 167220510 167220510 single base substitution G A intron_variant MELA-AU 3 167220541 167220541 single base substitution T C intron_variant MELA-AU 3 167220543 167220543 single base substitution C T intron_variant MELA-AU 3 167220545 167220545 single base substitution C A intron_variant MELA-AU 3 167220576 167220576 single base substitution G A intron_variant MELA-AU 3 167220636 167220636 single base substitution G A intron_variant MELA-AU 3 167220754 167220754 single base substitution G A intron_variant MELA-AU 3 167220757 167220757 single base substitution C T intron_variant MELA-AU 3 167220789 167220789 single base substitution G A intron_variant MELA-AU 3 167221001 167221001 single base substitution G A intron_variant MELA-AU 3 167221026 167221026 single base substitution G A intron_variant MELA-AU 3 167221050 167221050 single base substitution C T intron_variant MELA-AU 3 167221050 167221051 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 167221069 167221069 single base substitution A G intron_variant MELA-AU 3 167221151 167221151 single base substitution C T intron_variant MELA-AU 3 167221193 167221193 single base substitution C A intron_variant MELA-AU 3 167221196 167221196 single base substitution C T intron_variant MELA-AU 3 167221257 167221257 single base substitution G A intron_variant MELA-AU 3 167221265 167221265 single base substitution C T intron_variant MELA-AU 3 167221321 167221321 single base substitution G A intron_variant MELA-AU 3 167221372 167221372 single base substitution C T intron_variant MELA-AU 3 167221402 167221402 single base substitution G A intron_variant MELA-AU 3 167221407 167221407 single base substitution G A intron_variant MELA-AU 3 167221431 167221431 single base substitution G A intron_variant MELA-AU 3 167221437 167221437 single base substitution G A intron_variant MELA-AU 3 167221468 167221468 single base substitution G T intron_variant MELA-AU 3 167221473 167221473 single base substitution G A intron_variant MELA-AU 3 167221541 167221541 single base substitution G A intron_variant MELA-AU 3 167221559 167221559 single base substitution C T intron_variant MELA-AU 3 167221834 167221834 single base substitution G A intron_variant MELA-AU 3 167221859 167221859 single base substitution G A intron_variant MELA-AU 3 167221860 167221860 single base substitution A C intron_variant MELA-AU 3 167221895 167221895 single base substitution G A intron_variant MELA-AU 3 167222092 167222093 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 167222101 167222101 single base substitution C T intron_variant MELA-AU 3 167222166 167222166 single base substitution G A intron_variant MELA-AU 3 167222208 167222208 single base substitution G A intron_variant MELA-AU 3 167222407 167222407 single base substitution G A intron_variant MELA-AU 3 167222410 167222410 single base substitution A T intron_variant MELA-AU 3 167222457 167222457 single base substitution C T intron_variant MELA-AU 3 167222469 167222469 single base substitution G A intron_variant MELA-AU 3 167222521 167222521 single base substitution C T intron_variant MELA-AU 3 167222535 167222535 single base substitution C T intron_variant MELA-AU 3 167222561 167222561 single base substitution G A intron_variant MELA-AU 3 167222577 167222577 single base substitution G A intron_variant MELA-AU 3 167222587 167222587 single base substitution C T intron_variant MELA-AU 3 167222892 167222892 single base substitution C T intron_variant MELA-AU 3 167222998 167222998 single base substitution G A intron_variant MELA-AU 3 167223180 167223180 single base substitution A T intron_variant MELA-AU 3 167223180 167223180 single base substitution A T missense_variant N406K 1218T>A MELA-AU 3 167223180 167223180 single base substitution A T missense_variant N546K 1638T>A MELA-AU 3 167223180 167223180 single base substitution A T missense_variant N557K 1671T>A MELA-AU 3 167223180 167223180 single base substitution A T missense_variant N581K 1743T>A MELA-AU 3 167223211 167223211 single base substitution G A intron_variant MELA-AU 3 167223211 167223211 single base substitution G A splice_region_variant MELA-AU 3 167223238 167223238 single base substitution T G intron_variant MELA-AU 3 167223253 167223253 single base substitution G A intron_variant MELA-AU 3 167223529 167223529 single base substitution T A intron_variant MELA-AU 3 167223729 167223729 single base substitution G A intron_variant MELA-AU 3 167224071 167224071 single base substitution G A intron_variant MELA-AU 3 167224097 167224097 single base substitution G A intron_variant MELA-AU 3 167224120 167224120 single base substitution G A intron_variant MELA-AU 3 167224143 167224143 single base substitution G A intron_variant MELA-AU 3 167224200 167224200 single base substitution C T intron_variant MELA-AU 3 167224329 167224329 single base substitution T A intron_variant MELA-AU 3 167224357 167224357 single base substitution C T intron_variant MELA-AU 3 167224398 167224398 single base substitution C T intron_variant MELA-AU 3 167224407 167224407 single base substitution C T intron_variant MELA-AU 3 167224422 167224422 single base substitution C T intron_variant MELA-AU 3 167224486 167224486 single base substitution T A intron_variant MELA-AU 3 167224595 167224595 single base substitution G A intron_variant MELA-AU 3 167224668 167224668 single base substitution C G intron_variant MELA-AU 3 167224678 167224678 single base substitution G A intron_variant MELA-AU 3 167224717 167224717 single base substitution G A intron_variant MELA-AU 3 167224730 167224730 single base substitution G A intron_variant MELA-AU 3 167224740 167224740 single base substitution G A intron_variant MELA-AU 3 167224978 167224978 single base substitution C T intron_variant MELA-AU 3 167225032 167225032 single base substitution C T intron_variant MELA-AU 3 167225071 167225071 single base substitution T C intron_variant MELA-AU 3 167225073 167225073 single base substitution C T intron_variant MELA-AU 3 167225086 167225086 single base substitution G A intron_variant MELA-AU 3 167225100 167225100 single base substitution C T intron_variant MELA-AU 3 167225172 167225172 single base substitution G A intron_variant MELA-AU 3 167225249 167225250 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 167225300 167225300 single base substitution T A intron_variant MELA-AU 3 167225318 167225318 single base substitution C T intron_variant MELA-AU 3 167225432 167225432 single base substitution C T intron_variant MELA-AU 3 167225439 167225439 single base substitution C T intron_variant MELA-AU 3 167225477 167225477 single base substitution C T intron_variant MELA-AU 3 167225584 167225584 single base substitution G A intron_variant MELA-AU 3 167225620 167225620 single base substitution C T intron_variant MELA-AU 3 167225746 167225746 single base substitution A C intron_variant MELA-AU 3 167225790 167225790 single base substitution C T intron_variant MELA-AU 3 167225942 167225942 single base substitution C T intron_variant MELA-AU 3 167225958 167225958 single base substitution G A intron_variant MELA-AU 3 167226070 167226070 single base substitution G A intron_variant MELA-AU 3 167226084 167226084 single base substitution G A intron_variant MELA-AU 3 167226091 167226091 single base substitution G A intron_variant MELA-AU 3 167226160 167226160 single base substitution C G intron_variant MELA-AU 3 167226231 167226231 single base substitution C T intron_variant MELA-AU 3 167226238 167226238 single base substitution G A intron_variant MELA-AU 3 167226305 167226305 single base substitution G A intron_variant MELA-AU 3 167226359 167226359 single base substitution C T intron_variant MELA-AU 3 167226523 167226523 single base substitution C T intron_variant MELA-AU 3 167226703 167226703 single base substitution G A intron_variant MELA-AU 3 167226764 167226764 single base substitution C T intron_variant MELA-AU 3 167226863 167226863 single base substitution G A intron_variant MELA-AU 3 167226929 167226930 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 167226967 167226967 single base substitution G A intron_variant MELA-AU 3 167227030 167227030 single base substitution G A intron_variant MELA-AU 3 167227103 167227103 single base substitution G A intron_variant MELA-AU 3 167227213 167227213 single base substitution C T intron_variant MELA-AU 3 167227256 167227256 single base substitution G A intron_variant MELA-AU 3 167227355 167227355 single base substitution C T intron_variant MELA-AU 3 167227456 167227456 single base substitution C T intron_variant MELA-AU 3 167227554 167227554 single base substitution C T intron_variant MELA-AU 3 167227663 167227663 single base substitution G A intron_variant MELA-AU 3 167227827 167227827 single base substitution G A intron_variant MELA-AU 3 167227835 167227835 single base substitution C T intron_variant MELA-AU 3 167227945 167227945 single base substitution G A intron_variant MELA-AU 3 167227963 167227963 single base substitution G A intron_variant MELA-AU 3 167227968 167227968 single base substitution C T intron_variant MELA-AU 3 167228023 167228023 single base substitution G A intron_variant MELA-AU 3 167228076 167228076 single base substitution G A intron_variant MELA-AU 3 167228127 167228127 single base substitution C T intron_variant MELA-AU 3 167228181 167228181 single base substitution G A intron_variant MELA-AU 3 167228221 167228221 single base substitution C T intron_variant MELA-AU 3 167228282 167228282 single base substitution G A intron_variant MELA-AU 3 167228283 167228283 single base substitution G A intron_variant MELA-AU 3 167228574 167228574 single base substitution C T intron_variant MELA-AU 3 167228625 167228625 single base substitution C T intron_variant MELA-AU 3 167228626 167228626 single base substitution C T intron_variant MELA-AU 3 167228767 167228767 single base substitution C T intron_variant MELA-AU 3 167228809 167228809 single base substitution C T intron_variant MELA-AU 3 167228852 167228852 single base substitution C T intron_variant MELA-AU 3 167228924 167228924 single base substitution G A intron_variant MELA-AU 3 167228944 167228944 single base substitution G A intron_variant MELA-AU 3 167228965 167228965 single base substitution G A intron_variant MELA-AU 3 167228981 167228981 single base substitution G A intron_variant MELA-AU 3 167229016 167229016 single base substitution C T intron_variant MELA-AU 3 167229109 167229109 single base substitution T C intron_variant MELA-AU 3 167229169 167229169 single base substitution G A intron_variant MELA-AU 3 167229349 167229350 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 167229542 167229542 single base substitution C T intron_variant MELA-AU 3 167229669 167229669 single base substitution C T intron_variant MELA-AU 3 167229682 167229682 single base substitution G A intron_variant MELA-AU 3 167229721 167229721 single base substitution G A intron_variant MELA-AU 3 167229751 167229751 single base substitution G A intron_variant MELA-AU 3 167229764 167229764 single base substitution G A intron_variant MELA-AU 3 167229767 167229768 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 167229768 167229768 single base substitution G A intron_variant MELA-AU 3 167229793 167229793 single base substitution C T intron_variant MELA-AU 3 167229880 167229880 single base substitution C T intron_variant MELA-AU 3 167229888 167229888 single base substitution G A intron_variant MELA-AU 3 167229889 167229889 single base substitution G A intron_variant MELA-AU 3 167229911 167229911 single base substitution G A intron_variant MELA-AU 3 167229918 167229918 single base substitution C T intron_variant MELA-AU 3 167229921 167229921 single base substitution G A intron_variant MELA-AU 3 167229925 167229925 single base substitution C T intron_variant MELA-AU 3 167229948 167229948 single base substitution C T intron_variant MELA-AU 3 167230029 167230029 single base substitution C T intron_variant MELA-AU 3 167230032 167230032 single base substitution G A intron_variant MELA-AU 3 167230035 167230035 single base substitution G A intron_variant MELA-AU 3 167230039 167230039 single base substitution G A intron_variant MELA-AU 3 167230077 167230077 single base substitution G A intron_variant MELA-AU 3 167230100 167230100 single base substitution G A intron_variant MELA-AU 3 167230101 167230101 single base substitution G A intron_variant MELA-AU 3 167230248 167230248 single base substitution G A intron_variant MELA-AU 3 167230299 167230299 single base substitution C T intron_variant MELA-AU 3 167230313 167230313 single base substitution G A intron_variant MELA-AU 3 167230403 167230403 single base substitution G A intron_variant MELA-AU 3 167230514 167230514 single base substitution G A intron_variant MELA-AU 3 167230556 167230556 single base substitution G A intron_variant MELA-AU 3 167230631 167230631 single base substitution G A intron_variant MELA-AU 3 167230806 167230806 single base substitution G A intron_variant MELA-AU 3 167230883 167230883 single base substitution C T intron_variant MELA-AU 3 167230965 167230965 single base substitution G A intron_variant MELA-AU 3 167231107 167231107 single base substitution G A intron_variant MELA-AU 3 167231118 167231118 single base substitution C T intron_variant MELA-AU 3 167231203 167231203 single base substitution G A intron_variant MELA-AU 3 167231238 167231238 single base substitution C T intron_variant MELA-AU 3 167231259 167231259 single base substitution G A intron_variant MELA-AU 3 167231324 167231324 single base substitution G A intron_variant MELA-AU 3 167231329 167231329 single base substitution A T intron_variant MELA-AU 3 167231487 167231487 single base substitution C T intron_variant MELA-AU 3 167231494 167231494 single base substitution C T intron_variant MELA-AU 3 167231529 167231529 single base substitution C T intron_variant MELA-AU 3 167231531 167231531 single base substitution C T intron_variant MELA-AU 3 167231549 167231549 single base substitution G A intron_variant MELA-AU 3 167231665 167231665 single base substitution A T intron_variant MELA-AU 3 167231738 167231738 single base substitution G A intron_variant MELA-AU 3 167231800 167231800 single base substitution G A intron_variant MELA-AU 3 167231801 167231801 single base substitution G A intron_variant MELA-AU 3 167231840 167231840 single base substitution G A intron_variant MELA-AU 3 167231872 167231872 single base substitution G A intron_variant MELA-AU 3 167231897 167231897 single base substitution C T intron_variant MELA-AU 3 167232049 167232049 single base substitution G A intron_variant MELA-AU 3 167232223 167232223 single base substitution C T intron_variant MELA-AU 3 167232296 167232296 single base substitution G A intron_variant MELA-AU 3 167232354 167232354 single base substitution G A intron_variant MELA-AU 3 167232389 167232389 single base substitution G A intron_variant MELA-AU 3 167232541 167232541 single base substitution G A intron_variant MELA-AU 3 167232590 167232590 single base substitution G A intron_variant MELA-AU 3 167232721 167232721 single base substitution G A intron_variant MELA-AU 3 167232771 167232771 single base substitution A G intron_variant MELA-AU 3 167232799 167232799 single base substitution G A intron_variant MELA-AU 3 167232836 167232836 single base substitution G A intron_variant MELA-AU 3 167232893 167232893 single base substitution G A intron_variant MELA-AU 3 167232935 167232935 single base substitution C T intron_variant MELA-AU 3 167232938 167232938 single base substitution G A intron_variant MELA-AU 3 167232942 167232942 single base substitution C T intron_variant MELA-AU 3 167232973 167232973 single base substitution G A intron_variant MELA-AU 3 167232996 167232996 single base substitution C T intron_variant MELA-AU 3 167233143 167233143 single base substitution T C intron_variant MELA-AU 3 167233231 167233231 single base substitution C T intron_variant MELA-AU 3 167233411 167233411 single base substitution G T intron_variant MELA-AU 3 167233432 167233432 single base substitution C T intron_variant MELA-AU 3 167233443 167233443 single base substitution A T intron_variant MELA-AU 3 167233445 167233445 single base substitution G A intron_variant MELA-AU 3 167233467 167233467 single base substitution G A intron_variant MELA-AU 3 167233540 167233540 single base substitution C T intron_variant MELA-AU 3 167233662 167233662 single base substitution C T intron_variant MELA-AU 3 167233681 167233681 single base substitution G A intron_variant MELA-AU 3 167233714 167233714 single base substitution G A intron_variant MELA-AU 3 167233761 167233761 single base substitution G A intron_variant MELA-AU 3 167233801 167233801 single base substitution G A intron_variant MELA-AU 3 167233804 167233804 single base substitution C T intron_variant MELA-AU 3 167233835 167233835 single base substitution C T intron_variant MELA-AU 3 167234002 167234002 single base substitution A C intron_variant MELA-AU 3 167234033 167234033 single base substitution C T intron_variant MELA-AU 3 167234285 167234285 single base substitution C T intron_variant MELA-AU 3 167234315 167234315 single base substitution C T intron_variant MELA-AU 3 167234327 167234327 single base substitution G A intron_variant MELA-AU 3 167234457 167234457 single base substitution C T intron_variant MELA-AU 3 167234506 167234506 single base substitution G A intron_variant MELA-AU 3 167234885 167234885 single base substitution G A intron_variant MELA-AU 3 167234968 167234968 single base substitution C T intron_variant MELA-AU 3 167235040 167235040 single base substitution G A intron_variant MELA-AU 3 167235044 167235044 single base substitution C T intron_variant MELA-AU 3 167235218 167235218 single base substitution C T downstream_gene_variant MELA-AU 3 167235218 167235218 single base substitution C T intron_variant MELA-AU 3 167235475 167235475 single base substitution C T downstream_gene_variant MELA-AU 3 167235475 167235475 single base substitution C T intron_variant MELA-AU 3 167235496 167235496 single base substitution T C downstream_gene_variant MELA-AU 3 167235496 167235496 single base substitution T C intron_variant MELA-AU 3 167235710 167235710 single base substitution C T downstream_gene_variant MELA-AU 3 167235710 167235710 single base substitution C T intron_variant MELA-AU 3 167235716 167235716 single base substitution C T downstream_gene_variant MELA-AU 3 167235716 167235716 single base substitution C T intron_variant MELA-AU 3 167235759 167235759 single base substitution G A downstream_gene_variant MELA-AU 3 167235759 167235759 single base substitution G A intron_variant MELA-AU 3 167235811 167235811 single base substitution G A downstream_gene_variant MELA-AU 3 167235811 167235811 single base substitution G A intron_variant MELA-AU 3 167235847 167235847 single base substitution G A downstream_gene_variant MELA-AU 3 167235847 167235847 single base substitution G A intron_variant MELA-AU 3 167236186 167236186 single base substitution G T downstream_gene_variant MELA-AU 3 167236186 167236186 single base substitution G T intron_variant MELA-AU 3 167236603 167236603 single base substitution A C downstream_gene_variant MELA-AU 3 167236603 167236603 single base substitution A C intron_variant MELA-AU 3 167236634 167236634 single base substitution G A downstream_gene_variant MELA-AU 3 167236634 167236634 single base substitution G A intron_variant MELA-AU 3 167236658 167236658 single base substitution T C downstream_gene_variant MELA-AU 3 167236658 167236658 single base substitution T C intron_variant MELA-AU 3 167236697 167236697 single base substitution G A downstream_gene_variant MELA-AU 3 167236697 167236697 single base substitution G A intron_variant MELA-AU 3 167237250 167237250 single base substitution G A downstream_gene_variant MELA-AU 3 167237250 167237250 single base substitution G A intron_variant MELA-AU 3 167237338 167237338 single base substitution C T downstream_gene_variant MELA-AU 3 167237338 167237338 single base substitution C T intron_variant MELA-AU 3 167237430 167237430 single base substitution G A downstream_gene_variant MELA-AU 3 167237430 167237430 single base substitution G A intron_variant MELA-AU 3 167237518 167237518 single base substitution C T downstream_gene_variant MELA-AU 3 167237518 167237518 single base substitution C T intron_variant MELA-AU 3 167237593 167237593 single base substitution A G downstream_gene_variant MELA-AU 3 167237593 167237593 single base substitution A G intron_variant MELA-AU 3 167237597 167237597 single base substitution C T downstream_gene_variant MELA-AU 3 167237597 167237597 single base substitution C T intron_variant MELA-AU 3 167237722 167237722 single base substitution G A downstream_gene_variant MELA-AU 3 167237722 167237722 single base substitution G A intron_variant MELA-AU 3 167237754 167237754 single base substitution G A downstream_gene_variant MELA-AU 3 167237754 167237754 single base substitution G A intron_variant MELA-AU 3 167237814 167237814 single base substitution G A downstream_gene_variant MELA-AU 3 167237814 167237814 single base substitution G A intron_variant MELA-AU 3 167237819 167237819 single base substitution C T downstream_gene_variant MELA-AU 3 167237819 167237819 single base substitution C T intron_variant MELA-AU 3 167237960 167237960 single base substitution G A downstream_gene_variant MELA-AU 3 167237960 167237960 single base substitution G A intron_variant MELA-AU 3 167238004 167238004 single base substitution C T downstream_gene_variant MELA-AU 3 167238004 167238004 single base substitution C T intron_variant MELA-AU 3 167238075 167238075 single base substitution G A downstream_gene_variant MELA-AU 3 167238075 167238075 single base substitution G A intron_variant MELA-AU 3 167238081 167238081 single base substitution G A downstream_gene_variant MELA-AU 3 167238081 167238081 single base substitution G A intron_variant MELA-AU 3 167238383 167238383 single base substitution G A downstream_gene_variant MELA-AU 3 167238383 167238383 single base substitution G A intron_variant MELA-AU 3 167238434 167238434 single base substitution G A downstream_gene_variant MELA-AU 3 167238434 167238434 single base substitution G A intron_variant MELA-AU 3 167238567 167238567 single base substitution T A downstream_gene_variant MELA-AU 3 167238567 167238567 single base substitution T A intron_variant MELA-AU 3 167238594 167238594 single base substitution G A downstream_gene_variant MELA-AU 3 167238594 167238594 single base substitution G A intron_variant MELA-AU 3 167238709 167238709 single base substitution G A downstream_gene_variant MELA-AU 3 167238709 167238709 single base substitution G A intron_variant MELA-AU 3 167238718 167238718 single base substitution G A downstream_gene_variant MELA-AU 3 167238718 167238718 single base substitution G A intron_variant MELA-AU 3 167238753 167238753 single base substitution C T downstream_gene_variant MELA-AU 3 167238753 167238753 single base substitution C T intron_variant MELA-AU 3 167238768 167238768 single base substitution G A downstream_gene_variant MELA-AU 3 167238768 167238768 single base substitution G A intron_variant MELA-AU 3 167238884 167238884 single base substitution G A downstream_gene_variant MELA-AU 3 167238884 167238884 single base substitution G A intron_variant MELA-AU 3 167238892 167238892 single base substitution G A downstream_gene_variant MELA-AU 3 167238892 167238892 single base substitution G A intron_variant MELA-AU 3 167238924 167238924 single base substitution C T downstream_gene_variant MELA-AU 3 167238924 167238924 single base substitution C T intron_variant MELA-AU 3 167238952 167238952 single base substitution G A downstream_gene_variant MELA-AU 3 167238952 167238952 single base substitution G A intron_variant MELA-AU 3 167239070 167239070 single base substitution C T downstream_gene_variant MELA-AU 3 167239070 167239070 single base substitution C T intron_variant MELA-AU 3 167239124 167239124 single base substitution C T downstream_gene_variant MELA-AU 3 167239124 167239124 single base substitution C T intron_variant MELA-AU 3 167239141 167239141 single base substitution G A downstream_gene_variant MELA-AU 3 167239141 167239141 single base substitution G A intron_variant MELA-AU 3 167239194 167239194 single base substitution C T downstream_gene_variant MELA-AU 3 167239194 167239194 single base substitution C T intron_variant MELA-AU 3 167239223 167239223 single base substitution G A downstream_gene_variant MELA-AU 3 167239223 167239223 single base substitution G A intron_variant MELA-AU 3 167239224 167239224 single base substitution G A downstream_gene_variant MELA-AU 3 167239224 167239224 single base substitution G A intron_variant MELA-AU 3 167239224 167239224 single base substitution G T downstream_gene_variant MELA-AU 3 167239224 167239224 single base substitution G T intron_variant MELA-AU 3 167239248 167239248 single base substitution G A downstream_gene_variant MELA-AU 3 167239248 167239248 single base substitution G A intron_variant MELA-AU 3 167239250 167239250 single base substitution G A downstream_gene_variant MELA-AU 3 167239250 167239250 single base substitution G A intron_variant MELA-AU 3 167239253 167239253 single base substitution G A downstream_gene_variant MELA-AU 3 167239253 167239253 single base substitution G A intron_variant MELA-AU 3 167239341 167239341 single base substitution G A downstream_gene_variant MELA-AU 3 167239341 167239341 single base substitution G A intron_variant MELA-AU 3 167239459 167239459 single base substitution C T downstream_gene_variant MELA-AU 3 167239459 167239459 single base substitution C T intron_variant MELA-AU 3 167239553 167239553 single base substitution C T downstream_gene_variant MELA-AU 3 167239553 167239553 single base substitution C T intron_variant MELA-AU 3 167239611 167239611 single base substitution G A downstream_gene_variant MELA-AU 3 167239611 167239611 single base substitution G A intron_variant MELA-AU 3 167239706 167239706 single base substitution C T downstream_gene_variant MELA-AU 3 167239706 167239706 single base substitution C T intron_variant MELA-AU 3 167239753 167239753 single base substitution G A downstream_gene_variant MELA-AU 3 167239753 167239753 single base substitution G A intron_variant MELA-AU 3 167239818 167239818 single base substitution G A downstream_gene_variant MELA-AU 3 167239818 167239818 single base substitution G A intron_variant MELA-AU 3 167239846 167239846 single base substitution G A downstream_gene_variant MELA-AU 3 167239846 167239846 single base substitution G A intron_variant MELA-AU 3 167239971 167239971 single base substitution C T downstream_gene_variant MELA-AU 3 167239971 167239971 single base substitution C T intron_variant MELA-AU 3 167240029 167240029 single base substitution G A downstream_gene_variant MELA-AU 3 167240029 167240029 single base substitution G A intron_variant MELA-AU 3 167240137 167240137 single base substitution G A intron_variant MELA-AU 3 167240137 167240137 single base substitution G A missense_variant L133F 397C>T MELA-AU 3 167240137 167240137 single base substitution G A missense_variant L387F 1159C>T MELA-AU 3 167240137 167240137 single base substitution G A missense_variant L527F 1579C>T MELA-AU 3 167240137 167240137 single base substitution G A missense_variant L538F 1612C>T MELA-AU 3 167240137 167240137 single base substitution G A missense_variant L562F 1684C>T MELA-AU 3 167240142 167240142 single base substitution G A intron_variant MELA-AU 3 167240142 167240142 single base substitution G A missense_variant S131F 392C>T MELA-AU 3 167240142 167240142 single base substitution G A missense_variant S385F 1154C>T MELA-AU 3 167240142 167240142 single base substitution G A missense_variant S525F 1574C>T MELA-AU 3 167240142 167240142 single base substitution G A missense_variant S536F 1607C>T MELA-AU 3 167240142 167240142 single base substitution G A missense_variant S560F 1679C>T MELA-AU 3 167240173 167240174 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 167240173 167240174 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant E515K 1543G>A MELA-AU 3 167240173 167240174 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant E526K 1576G>A MELA-AU 3 167240173 167240174 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant KE120KK MELA-AU 3 167240173 167240174 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant KE374KK MELA-AU 3 167240173 167240174 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant KE549KK MELA-AU 3 167240227 167240227 single base substitution C T intron_variant MELA-AU 3 167240227 167240227 single base substitution C T missense_variant D103N 307G>A MELA-AU 3 167240227 167240227 single base substitution C T missense_variant D357N 1069G>A MELA-AU 3 167240227 167240227 single base substitution C T missense_variant D532N 1594G>A MELA-AU 3 167240236 167240236 single base substitution G A intron_variant MELA-AU 3 167240236 167240236 single base substitution G A missense_variant P100S 298C>T MELA-AU 3 167240236 167240236 single base substitution G A missense_variant P354S 1060C>T MELA-AU 3 167240236 167240236 single base substitution G A missense_variant P529S 1585C>T MELA-AU 3 167240254 167240254 single base substitution C T intron_variant MELA-AU 3 167240254 167240254 single base substitution C T missense_variant E348K 1042G>A MELA-AU 3 167240254 167240254 single base substitution C T missense_variant E523K 1567G>A MELA-AU 3 167240254 167240254 single base substitution C T missense_variant E94K 280G>A MELA-AU 3 167240284 167240284 single base substitution G A intron_variant MELA-AU 3 167240307 167240307 single base substitution G A intron_variant MELA-AU 3 167240445 167240445 single base substitution G A intron_variant MELA-AU 3 167240482 167240482 single base substitution G A intron_variant MELA-AU 3 167240496 167240496 single base substitution G A intron_variant MELA-AU 3 167240517 167240517 single base substitution G A intron_variant MELA-AU 3 167240526 167240526 single base substitution G A intron_variant MELA-AU 3 167240742 167240742 single base substitution C T intron_variant MELA-AU 3 167240866 167240866 single base substitution G A intron_variant MELA-AU 3 167240916 167240916 single base substitution C T intron_variant MELA-AU 3 167240982 167240982 single base substitution C T intron_variant MELA-AU 3 167241109 167241109 single base substitution G A intron_variant MELA-AU 3 167241155 167241155 single base substitution G A intron_variant MELA-AU 3 167241173 167241173 single base substitution T C intron_variant MELA-AU 3 167241214 167241214 single base substitution A G intron_variant MELA-AU 3 167241315 167241315 single base substitution C T intron_variant MELA-AU 3 167241335 167241335 single base substitution T A intron_variant MELA-AU 3 167241467 167241467 single base substitution G A intron_variant MELA-AU 3 167241683 167241683 single base substitution C T intron_variant MELA-AU 3 167241684 167241684 single base substitution C T intron_variant MELA-AU 3 167241715 167241715 single base substitution G A intron_variant MELA-AU 3 167241854 167241854 single base substitution C T intron_variant MELA-AU 3 167241890 167241890 single base substitution G A intron_variant MELA-AU 3 167242006 167242006 single base substitution C T intron_variant MELA-AU 3 167242108 167242108 single base substitution G A intron_variant MELA-AU 3 167242320 167242320 single base substitution G A intron_variant MELA-AU 3 167242458 167242458 single base substitution C T intron_variant MELA-AU 3 167242516 167242516 single base substitution T G intron_variant MELA-AU 3 167242541 167242541 single base substitution C T intron_variant MELA-AU 3 167242618 167242618 single base substitution C T intron_variant MELA-AU 3 167242636 167242636 single base substitution C T intron_variant MELA-AU 3 167242648 167242648 single base substitution T A intron_variant MELA-AU 3 167242678 167242678 single base substitution C T intron_variant MELA-AU 3 167242753 167242753 single base substitution G A intron_variant MELA-AU 3 167242799 167242799 single base substitution C T intron_variant MELA-AU 3 167242841 167242841 single base substitution C T intron_variant MELA-AU 3 167242860 167242860 single base substitution C T intron_variant MELA-AU 3 167242867 167242867 single base substitution C T intron_variant MELA-AU 3 167242913 167242913 single base substitution C T intron_variant MELA-AU 3 167242946 167242946 single base substitution C T intron_variant MELA-AU 3 167242967 167242967 single base substitution G T intron_variant MELA-AU 3 167243014 167243014 single base substitution G A intron_variant MELA-AU 3 167243025 167243025 single base substitution G A intron_variant MELA-AU 3 167243084 167243084 single base substitution G A intron_variant MELA-AU 3 167243105 167243105 single base substitution G A intron_variant MELA-AU 3 167243227 167243227 single base substitution G A intron_variant MELA-AU 3 167243499 167243499 single base substitution C T intron_variant MELA-AU 3 167243662 167243662 single base substitution C T intron_variant MELA-AU 3 167243687 167243687 single base substitution C T intron_variant MELA-AU 3 167243689 167243689 single base substitution C T intron_variant MELA-AU 3 167243696 167243696 single base substitution C T intron_variant MELA-AU 3 167243701 167243701 single base substitution C T intron_variant MELA-AU 3 167243729 167243729 single base substitution C T intron_variant MELA-AU 3 167243785 167243785 single base substitution T C intron_variant MELA-AU 3 167243863 167243863 single base substitution C T intron_variant MELA-AU 3 167243882 167243882 single base substitution C T intron_variant MELA-AU 3 167243920 167243920 single base substitution C T intron_variant MELA-AU 3 167243937 167243937 single base substitution G A intron_variant MELA-AU 3 167243981 167243981 single base substitution A T intron_variant MELA-AU 3 167243988 167243988 single base substitution G A intron_variant MELA-AU 3 167243997 167243997 single base substitution G A intron_variant MELA-AU 3 167244143 167244143 single base substitution G A intron_variant MELA-AU 3 167244160 167244160 single base substitution G A intron_variant MELA-AU 3 167244192 167244192 single base substitution C T intron_variant MELA-AU 3 167244295 167244295 single base substitution C T intron_variant MELA-AU 3 167244375 167244375 single base substitution C T intron_variant MELA-AU 3 167244436 167244436 single base substitution C T intron_variant MELA-AU 3 167244510 167244510 single base substitution C T intron_variant MELA-AU 3 167244519 167244519 single base substitution C T intron_variant MELA-AU 3 167244551 167244551 single base substitution G A intron_variant MELA-AU 3 167244616 167244616 single base substitution G A intron_variant MELA-AU 3 167244657 167244657 single base substitution C T intron_variant MELA-AU 3 167244658 167244658 single base substitution C T intron_variant MELA-AU 3 167244716 167244716 single base substitution C T intron_variant MELA-AU 3 167244807 167244807 single base substitution G A intron_variant MELA-AU 3 167244812 167244812 single base substitution A G intron_variant MELA-AU 3 167244819 167244819 single base substitution G A intron_variant MELA-AU 3 167244841 167244841 single base substitution C T intron_variant MELA-AU 3 167244846 167244846 single base substitution C T intron_variant MELA-AU 3 167245005 167245005 single base substitution C T intron_variant MELA-AU 3 167245019 167245019 single base substitution C T intron_variant MELA-AU 3 167245098 167245098 single base substitution G A intron_variant MELA-AU 3 167245267 167245267 single base substitution C T intron_variant MELA-AU 3 167245292 167245292 single base substitution C T intron_variant MELA-AU 3 167245362 167245362 single base substitution C T intron_variant MELA-AU 3 167245617 167245617 single base substitution G A intron_variant MELA-AU 3 167245617 167245617 single base substitution G A synonymous_variant I338I 1014C>T MELA-AU 3 167245617 167245617 single base substitution G A synonymous_variant I513I 1539C>T MELA-AU 3 167245620 167245620 single base substitution C T intron_variant MELA-AU 3 167245620 167245620 single base substitution C T stop_gained W337* 1011G>A MELA-AU 3 167245620 167245620 single base substitution C T stop_gained W512* 1536G>A MELA-AU 3 167245655 167245655 single base substitution T C intron_variant MELA-AU 3 167245655 167245655 single base substitution T C missense_variant I326V 976A>G MELA-AU 3 167245655 167245655 single base substitution T C missense_variant I501V 1501A>G MELA-AU 3 167245747 167245747 single base substitution G A downstream_gene_variant MELA-AU 3 167245747 167245747 single base substitution G A intron_variant MELA-AU 3 167245747 167245747 single base substitution G A missense_variant S295L 884C>T MELA-AU 3 167245747 167245747 single base substitution G A missense_variant S470L 1409C>T MELA-AU 3 167245812 167245812 single base substitution G A downstream_gene_variant MELA-AU 3 167245812 167245812 single base substitution G A intron_variant MELA-AU 3 167245812 167245812 single base substitution G A splice_region_variant MELA-AU 3 167245841 167245841 single base substitution C T downstream_gene_variant MELA-AU 3 167245841 167245841 single base substitution C T intron_variant MELA-AU 3 167245848 167245848 single base substitution G A downstream_gene_variant MELA-AU 3 167245848 167245848 single base substitution G A intron_variant MELA-AU 3 167245939 167245939 single base substitution C T downstream_gene_variant MELA-AU 3 167245939 167245939 single base substitution C T intron_variant MELA-AU 3 167245962 167245962 single base substitution G A downstream_gene_variant MELA-AU 3 167245962 167245962 single base substitution G A intron_variant MELA-AU 3 167246006 167246006 single base substitution G A downstream_gene_variant MELA-AU 3 167246006 167246006 single base substitution G A intron_variant MELA-AU 3 167246020 167246020 single base substitution G A downstream_gene_variant MELA-AU 3 167246020 167246020 single base substitution G A intron_variant MELA-AU 3 167246030 167246030 single base substitution G A downstream_gene_variant MELA-AU 3 167246030 167246030 single base substitution G A intron_variant MELA-AU 3 167246030 167246031 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 167246030 167246031 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 167246041 167246041 single base substitution G T downstream_gene_variant MELA-AU 3 167246041 167246041 single base substitution G T intron_variant MELA-AU 3 167246346 167246346 single base substitution A G downstream_gene_variant MELA-AU 3 167246346 167246346 single base substitution A G intron_variant MELA-AU 3 167246382 167246382 single base substitution C T downstream_gene_variant MELA-AU 3 167246382 167246382 single base substitution C T intron_variant MELA-AU 3 167246460 167246460 single base substitution C T downstream_gene_variant MELA-AU 3 167246460 167246460 single base substitution C T intron_variant MELA-AU 3 167246556 167246556 single base substitution T A downstream_gene_variant MELA-AU 3 167246556 167246556 single base substitution T A intron_variant MELA-AU 3 167246663 167246664 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 167246663 167246664 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 167246717 167246717 single base substitution A G downstream_gene_variant MELA-AU 3 167246717 167246717 single base substitution A G intron_variant MELA-AU 3 167246892 167246892 single base substitution C T downstream_gene_variant MELA-AU 3 167246892 167246892 single base substitution C T intron_variant MELA-AU 3 167246892 167246892 single base substitution C T missense_variant R258Q 773G>A MELA-AU 3 167246892 167246892 single base substitution C T missense_variant R433Q 1298G>A MELA-AU 3 167246892 167246892 single base substitution C T missense_variant R497Q 1490G>A MELA-AU 3 167246892 167246892 single base substitution C T missense_variant R508Q 1523G>A MELA-AU 3 167246892 167246892 single base substitution C T missense_variant R70Q 209G>A MELA-AU 3 167246950 167246950 single base substitution C T downstream_gene_variant MELA-AU 3 167246950 167246950 single base substitution C T intron_variant MELA-AU 3 167246950 167246950 single base substitution C T missense_variant E239K 715G>A MELA-AU 3 167246950 167246950 single base substitution C T missense_variant E414K 1240G>A MELA-AU 3 167246950 167246950 single base substitution C T missense_variant E478K 1432G>A MELA-AU 3 167246950 167246950 single base substitution C T missense_variant E489K 1465G>A MELA-AU 3 167246950 167246950 single base substitution C T missense_variant E51K 151G>A MELA-AU 3 167246977 167246977 single base substitution C T downstream_gene_variant MELA-AU 3 167246977 167246977 single base substitution C T intron_variant MELA-AU 3 167246977 167246977 single base substitution C T missense_variant D230N 688G>A MELA-AU 3 167246977 167246977 single base substitution C T missense_variant D405N 1213G>A MELA-AU 3 167246977 167246977 single base substitution C T missense_variant D42N 124G>A MELA-AU 3 167246977 167246977 single base substitution C T missense_variant D469N 1405G>A MELA-AU 3 167246977 167246977 single base substitution C T missense_variant D480N 1438G>A MELA-AU 3 167246979 167246979 single base substitution C T downstream_gene_variant MELA-AU 3 167246979 167246979 single base substitution C T intron_variant MELA-AU 3 167246979 167246979 single base substitution C T stop_gained W229* 686G>A MELA-AU 3 167246979 167246979 single base substitution C T stop_gained W404* 1211G>A MELA-AU 3 167246979 167246979 single base substitution C T stop_gained W41* 122G>A MELA-AU 3 167246979 167246979 single base substitution C T stop_gained W468* 1403G>A MELA-AU 3 167246979 167246979 single base substitution C T stop_gained W479* 1436G>A MELA-AU 3 167247015 167247015 single base substitution A T downstream_gene_variant MELA-AU 3 167247015 167247015 single base substitution A T intron_variant MELA-AU 3 167247015 167247015 single base substitution A T missense_variant L217Q 650T>A MELA-AU 3 167247015 167247015 single base substitution A T missense_variant L29Q 86T>A MELA-AU 3 167247015 167247015 single base substitution A T missense_variant L392Q 1175T>A MELA-AU 3 167247015 167247015 single base substitution A T missense_variant L456Q 1367T>A MELA-AU 3 167247015 167247015 single base substitution A T missense_variant L467Q 1400T>A MELA-AU 3 167247107 167247107 single base substitution G A downstream_gene_variant MELA-AU 3 167247107 167247107 single base substitution G A intron_variant MELA-AU 3 167247152 167247152 single base substitution C T downstream_gene_variant MELA-AU 3 167247152 167247152 single base substitution C T intron_variant MELA-AU 3 167247245 167247245 single base substitution G A downstream_gene_variant MELA-AU 3 167247245 167247245 single base substitution G A intron_variant MELA-AU 3 167247253 167247253 single base substitution C T downstream_gene_variant MELA-AU 3 167247253 167247253 single base substitution C T intron_variant MELA-AU 3 167247345 167247345 single base substitution G A downstream_gene_variant MELA-AU 3 167247345 167247345 single base substitution G A intron_variant MELA-AU 3 167247357 167247357 single base substitution C T downstream_gene_variant MELA-AU 3 167247357 167247357 single base substitution C T intron_variant MELA-AU 3 167247426 167247426 single base substitution G A downstream_gene_variant MELA-AU 3 167247426 167247426 single base substitution G A intron_variant MELA-AU 3 167247546 167247546 single base substitution C T downstream_gene_variant MELA-AU 3 167247546 167247546 single base substitution C T intron_variant MELA-AU 3 167247568 167247568 single base substitution C T downstream_gene_variant MELA-AU 3 167247568 167247568 single base substitution C T intron_variant MELA-AU 3 167247589 167247589 single base substitution G A downstream_gene_variant MELA-AU 3 167247589 167247589 single base substitution G A intron_variant MELA-AU 3 167247608 167247608 single base substitution C T downstream_gene_variant MELA-AU 3 167247608 167247608 single base substitution C T intron_variant MELA-AU 3 167247677 167247677 single base substitution C T downstream_gene_variant MELA-AU 3 167247677 167247677 single base substitution C T intron_variant MELA-AU 3 167247723 167247723 single base substitution A G downstream_gene_variant MELA-AU 3 167247723 167247723 single base substitution A G intron_variant MELA-AU 3 167247860 167247860 single base substitution C T downstream_gene_variant MELA-AU 3 167247860 167247860 single base substitution C T intron_variant MELA-AU 3 167247901 167247902 multiple base substitution (>=2bp and <=200bp) TA AT downstream_gene_variant MELA-AU 3 167247901 167247902 multiple base substitution (>=2bp and <=200bp) TA AT intron_variant MELA-AU 3 167248031 167248031 single base substitution G A downstream_gene_variant MELA-AU 3 167248031 167248031 single base substitution G A intron_variant MELA-AU 3 167248188 167248188 single base substitution C T downstream_gene_variant MELA-AU 3 167248188 167248188 single base substitution C T intron_variant MELA-AU 3 167248195 167248195 single base substitution G A downstream_gene_variant MELA-AU 3 167248195 167248195 single base substitution G A intron_variant MELA-AU 3 167248199 167248199 single base substitution G A downstream_gene_variant MELA-AU 3 167248199 167248199 single base substitution G A intron_variant MELA-AU 3 167248271 167248271 single base substitution C T downstream_gene_variant MELA-AU 3 167248271 167248271 single base substitution C T intron_variant MELA-AU 3 167248375 167248375 single base substitution G A downstream_gene_variant MELA-AU 3 167248375 167248375 single base substitution G A intron_variant MELA-AU 3 167248387 167248387 single base substitution G A downstream_gene_variant MELA-AU 3 167248387 167248387 single base substitution G A intron_variant MELA-AU 3 167248505 167248505 single base substitution G A downstream_gene_variant MELA-AU 3 167248505 167248505 single base substitution G A intron_variant MELA-AU 3 167248517 167248517 single base substitution C T downstream_gene_variant MELA-AU 3 167248517 167248517 single base substitution C T intron_variant MELA-AU 3 167248595 167248595 single base substitution C G downstream_gene_variant MELA-AU 3 167248595 167248595 single base substitution C G intron_variant MELA-AU 3 167248653 167248653 single base substitution G A downstream_gene_variant MELA-AU 3 167248653 167248653 single base substitution G A intron_variant MELA-AU 3 167248741 167248741 single base substitution C T downstream_gene_variant MELA-AU 3 167248741 167248741 single base substitution C T intron_variant MELA-AU 3 167248800 167248800 single base substitution T C downstream_gene_variant MELA-AU 3 167248800 167248800 single base substitution T C intron_variant MELA-AU 3 167249022 167249022 single base substitution G A downstream_gene_variant MELA-AU 3 167249022 167249022 single base substitution G A intron_variant MELA-AU 3 167249022 167249022 single base substitution G A missense_variant S173F 518C>T MELA-AU 3 167249022 167249022 single base substitution G A missense_variant S348F 1043C>T MELA-AU 3 167249022 167249022 single base substitution G A missense_variant S412F 1235C>T MELA-AU 3 167249022 167249022 single base substitution G A missense_variant S423F 1268C>T MELA-AU 3 167249022 167249022 single base substitution G A upstream_gene_variant MELA-AU 3 167249027 167249027 single base substitution T C downstream_gene_variant MELA-AU 3 167249027 167249027 single base substitution T C intron_variant MELA-AU 3 167249027 167249027 single base substitution T C synonymous_variant Q171Q 513A>G MELA-AU 3 167249027 167249027 single base substitution T C synonymous_variant Q346Q 1038A>G MELA-AU 3 167249027 167249027 single base substitution T C synonymous_variant Q410Q 1230A>G MELA-AU 3 167249027 167249027 single base substitution T C synonymous_variant Q421Q 1263A>G MELA-AU 3 167249027 167249027 single base substitution T C upstream_gene_variant MELA-AU 3 167249129 167249129 single base substitution C T downstream_gene_variant MELA-AU 3 167249129 167249129 single base substitution C T intron_variant MELA-AU 3 167249129 167249129 single base substitution C T upstream_gene_variant MELA-AU 3 167249255 167249255 single base substitution T A downstream_gene_variant MELA-AU 3 167249255 167249255 single base substitution T A intron_variant MELA-AU 3 167249255 167249255 single base substitution T A upstream_gene_variant MELA-AU 3 167249370 167249370 single base substitution G T downstream_gene_variant MELA-AU 3 167249370 167249370 single base substitution G T intron_variant MELA-AU 3 167249370 167249370 single base substitution G T upstream_gene_variant MELA-AU 3 167249591 167249591 single base substitution G A downstream_gene_variant MELA-AU 3 167249591 167249591 single base substitution G A intron_variant MELA-AU 3 167249591 167249591 single base substitution G A upstream_gene_variant MELA-AU 3 167249634 167249634 single base substitution G A downstream_gene_variant MELA-AU 3 167249634 167249634 single base substitution G A intron_variant MELA-AU 3 167249634 167249634 single base substitution G A upstream_gene_variant MELA-AU 3 167249723 167249723 single base substitution C T downstream_gene_variant MELA-AU 3 167249723 167249723 single base substitution C T intron_variant MELA-AU 3 167249723 167249723 single base substitution C T upstream_gene_variant MELA-AU 3 167249831 167249831 single base substitution C T downstream_gene_variant MELA-AU 3 167249831 167249831 single base substitution C T intron_variant MELA-AU 3 167249831 167249831 single base substitution C T upstream_gene_variant MELA-AU 3 167249881 167249881 single base substitution C T downstream_gene_variant MELA-AU 3 167249881 167249881 single base substitution C T intron_variant MELA-AU 3 167249881 167249881 single base substitution C T upstream_gene_variant MELA-AU 3 167250078 167250078 single base substitution G A downstream_gene_variant MELA-AU 3 167250078 167250078 single base substitution G A intron_variant MELA-AU 3 167250078 167250078 single base substitution G A upstream_gene_variant MELA-AU 3 167250177 167250177 single base substitution C T downstream_gene_variant MELA-AU 3 167250177 167250177 single base substitution C T intron_variant MELA-AU 3 167250177 167250177 single base substitution C T upstream_gene_variant MELA-AU 3 167250232 167250232 single base substitution G T downstream_gene_variant MELA-AU 3 167250232 167250232 single base substitution G T intron_variant MELA-AU 3 167250232 167250232 single base substitution G T upstream_gene_variant MELA-AU 3 167250248 167250248 single base substitution C T downstream_gene_variant MELA-AU 3 167250248 167250248 single base substitution C T intron_variant MELA-AU 3 167250248 167250248 single base substitution C T upstream_gene_variant MELA-AU 3 167250376 167250376 single base substitution G A downstream_gene_variant MELA-AU 3 167250376 167250376 single base substitution G A intron_variant MELA-AU 3 167250376 167250376 single base substitution G A upstream_gene_variant MELA-AU 3 167250414 167250414 single base substitution C T downstream_gene_variant MELA-AU 3 167250414 167250414 single base substitution C T intron_variant MELA-AU 3 167250414 167250414 single base substitution C T upstream_gene_variant MELA-AU 3 167250479 167250479 single base substitution T C downstream_gene_variant MELA-AU 3 167250479 167250479 single base substitution T C intron_variant MELA-AU 3 167250479 167250479 single base substitution T C upstream_gene_variant MELA-AU 3 167250533 167250533 single base substitution G A downstream_gene_variant MELA-AU 3 167250533 167250533 single base substitution G A intron_variant MELA-AU 3 167250533 167250533 single base substitution G A upstream_gene_variant MELA-AU 3 167250565 167250565 single base substitution C T downstream_gene_variant MELA-AU 3 167250565 167250565 single base substitution C T intron_variant MELA-AU 3 167250565 167250565 single base substitution C T upstream_gene_variant MELA-AU 3 167250647 167250647 single base substitution C T downstream_gene_variant MELA-AU 3 167250647 167250647 single base substitution C T intron_variant MELA-AU 3 167250647 167250647 single base substitution C T upstream_gene_variant MELA-AU 3 167250744 167250744 single base substitution A G 3_prime_UTR_variant MELA-AU 3 167250744 167250744 single base substitution A G intron_variant MELA-AU 3 167250744 167250744 single base substitution A G missense_variant V132A 395T>C MELA-AU 3 167250744 167250744 single base substitution A G missense_variant V307A 920T>C MELA-AU 3 167250744 167250744 single base substitution A G missense_variant V371A 1112T>C MELA-AU 3 167250744 167250744 single base substitution A G missense_variant V382A 1145T>C MELA-AU 3 167250744 167250744 single base substitution A G upstream_gene_variant MELA-AU 3 167250748 167250748 single base substitution T C 3_prime_UTR_variant MELA-AU 3 167250748 167250748 single base substitution T C intron_variant MELA-AU 3 167250748 167250748 single base substitution T C missense_variant I131V 391A>G MELA-AU 3 167250748 167250748 single base substitution T C missense_variant I306V 916A>G MELA-AU 3 167250748 167250748 single base substitution T C missense_variant I370V 1108A>G MELA-AU 3 167250748 167250748 single base substitution T C missense_variant I381V 1141A>G MELA-AU 3 167250748 167250748 single base substitution T C upstream_gene_variant MELA-AU 3 167250998 167250998 single base substitution C T intron_variant MELA-AU 3 167250998 167250998 single base substitution C T upstream_gene_variant MELA-AU 3 167251046 167251046 single base substitution A G intron_variant MELA-AU 3 167251046 167251046 single base substitution A G upstream_gene_variant MELA-AU 3 167251131 167251131 single base substitution C T intron_variant MELA-AU 3 167251131 167251131 single base substitution C T upstream_gene_variant MELA-AU 3 167251306 167251306 single base substitution C T intron_variant MELA-AU 3 167251306 167251306 single base substitution C T upstream_gene_variant MELA-AU 3 167251314 167251314 single base substitution C T intron_variant MELA-AU 3 167251314 167251314 single base substitution C T upstream_gene_variant MELA-AU 3 167251379 167251379 single base substitution T A intron_variant MELA-AU 3 167251379 167251379 single base substitution T A upstream_gene_variant MELA-AU 3 167251447 167251447 single base substitution C T intron_variant MELA-AU 3 167251447 167251447 single base substitution C T upstream_gene_variant MELA-AU 3 167251464 167251464 single base substitution C T intron_variant MELA-AU 3 167251464 167251464 single base substitution C T upstream_gene_variant MELA-AU 3 167251670 167251670 single base substitution G A intron_variant MELA-AU 3 167251670 167251670 single base substitution G A upstream_gene_variant MELA-AU 3 167251675 167251675 single base substitution G A intron_variant MELA-AU 3 167251675 167251675 single base substitution G A upstream_gene_variant MELA-AU 3 167251680 167251680 single base substitution G A intron_variant MELA-AU 3 167251680 167251680 single base substitution G A upstream_gene_variant MELA-AU 3 167251685 167251685 single base substitution G A intron_variant MELA-AU 3 167251685 167251685 single base substitution G A upstream_gene_variant MELA-AU 3 167251687 167251687 single base substitution G A intron_variant MELA-AU 3 167251687 167251687 single base substitution G A upstream_gene_variant MELA-AU 3 167251706 167251706 single base substitution C T intron_variant MELA-AU 3 167251706 167251706 single base substitution C T upstream_gene_variant MELA-AU 3 167251910 167251910 single base substitution G A intron_variant MELA-AU 3 167251910 167251910 single base substitution G A upstream_gene_variant MELA-AU 3 167251941 167251941 single base substitution C T intron_variant MELA-AU 3 167251941 167251941 single base substitution C T upstream_gene_variant MELA-AU 3 167251996 167251996 single base substitution G A intron_variant MELA-AU 3 167251996 167251996 single base substitution G A upstream_gene_variant MELA-AU 3 167252073 167252073 single base substitution C T intron_variant MELA-AU 3 167252073 167252073 single base substitution C T upstream_gene_variant MELA-AU 3 167252125 167252125 single base substitution G A intron_variant MELA-AU 3 167252125 167252125 single base substitution G A upstream_gene_variant MELA-AU 3 167252143 167252143 single base substitution G A intron_variant MELA-AU 3 167252143 167252143 single base substitution G A upstream_gene_variant MELA-AU 3 167252246 167252246 single base substitution C T intron_variant MELA-AU 3 167252246 167252246 single base substitution C T upstream_gene_variant MELA-AU 3 167252282 167252282 single base substitution C T intron_variant MELA-AU 3 167252282 167252282 single base substitution C T upstream_gene_variant MELA-AU 3 167252342 167252342 single base substitution G A intron_variant MELA-AU 3 167252342 167252342 single base substitution G A upstream_gene_variant MELA-AU 3 167252486 167252486 single base substitution G A intron_variant MELA-AU 3 167252486 167252486 single base substitution G A upstream_gene_variant MELA-AU 3 167252539 167252539 single base substitution G A intron_variant MELA-AU 3 167252539 167252539 single base substitution G A upstream_gene_variant MELA-AU 3 167252550 167252550 single base substitution T A intron_variant MELA-AU 3 167252550 167252550 single base substitution T A upstream_gene_variant MELA-AU 3 167252554 167252554 single base substitution C T intron_variant MELA-AU 3 167252554 167252554 single base substitution C T upstream_gene_variant MELA-AU 3 167252571 167252571 single base substitution C T intron_variant MELA-AU 3 167252571 167252571 single base substitution C T upstream_gene_variant MELA-AU 3 167252693 167252693 single base substitution G A intron_variant MELA-AU 3 167252693 167252693 single base substitution G A upstream_gene_variant MELA-AU 3 167252857 167252857 single base substitution A G intron_variant MELA-AU 3 167252857 167252857 single base substitution A G upstream_gene_variant MELA-AU 3 167252890 167252890 single base substitution G A intron_variant MELA-AU 3 167252890 167252890 single base substitution G A upstream_gene_variant MELA-AU 3 167253003 167253003 single base substitution C T intron_variant MELA-AU 3 167253003 167253003 single base substitution C T upstream_gene_variant MELA-AU 3 167253066 167253066 single base substitution G A intron_variant MELA-AU 3 167253066 167253066 single base substitution G A upstream_gene_variant MELA-AU 3 167253105 167253105 single base substitution G A intron_variant MELA-AU 3 167253105 167253105 single base substitution G A upstream_gene_variant MELA-AU 3 167253181 167253181 single base substitution C T intron_variant MELA-AU 3 167253181 167253181 single base substitution C T upstream_gene_variant MELA-AU 3 167253271 167253271 single base substitution G A intron_variant MELA-AU 3 167253271 167253271 single base substitution G A upstream_gene_variant MELA-AU 3 167253302 167253302 single base substitution G A intron_variant MELA-AU 3 167253302 167253302 single base substitution G A upstream_gene_variant MELA-AU 3 167253502 167253502 single base substitution G A intron_variant MELA-AU 3 167253502 167253502 single base substitution G A upstream_gene_variant MELA-AU 3 167253520 167253520 single base substitution C T intron_variant MELA-AU 3 167253520 167253520 single base substitution C T upstream_gene_variant MELA-AU 3 167253888 167253888 single base substitution G A intron_variant MELA-AU 3 167253888 167253888 single base substitution G A upstream_gene_variant MELA-AU 3 167253920 167253920 single base substitution G A intron_variant MELA-AU 3 167253920 167253920 single base substitution G A upstream_gene_variant MELA-AU 3 167253928 167253928 single base substitution G A intron_variant MELA-AU 3 167253928 167253928 single base substitution G A upstream_gene_variant MELA-AU 3 167253954 167253954 single base substitution G T intron_variant MELA-AU 3 167253954 167253954 single base substitution G T upstream_gene_variant MELA-AU 3 167254075 167254075 single base substitution G A intron_variant MELA-AU 3 167254162 167254162 single base substitution C T intron_variant MELA-AU 3 167254451 167254451 single base substitution G A intron_variant MELA-AU 3 167254522 167254522 single base substitution C T intron_variant MELA-AU 3 167254650 167254650 single base substitution C T intron_variant MELA-AU 3 167254650 167254650 single base substitution C T splice_region_variant MELA-AU 3 167254658 167254658 single base substitution C T intron_variant MELA-AU 3 167254658 167254658 single base substitution C T missense_variant G125R 373G>A MELA-AU 3 167254658 167254658 single base substitution C T missense_variant G300R 898G>A MELA-AU 3 167254658 167254658 single base substitution C T missense_variant G364R 1090G>A MELA-AU 3 167254658 167254658 single base substitution C T missense_variant G375R 1123G>A MELA-AU 3 167254658 167254658 single base substitution C T splice_region_variant MELA-AU 3 167254659 167254659 single base substitution C T intron_variant MELA-AU 3 167254659 167254659 single base substitution C T splice_region_variant MELA-AU 3 167254709 167254709 single base substitution G A 3_prime_UTR_variant MELA-AU 3 167254709 167254709 single base substitution G A intron_variant MELA-AU 3 167254709 167254709 single base substitution G A missense_variant H108Y 322C>T MELA-AU 3 167254709 167254709 single base substitution G A missense_variant H283Y 847C>T MELA-AU 3 167254709 167254709 single base substitution G A missense_variant H347Y 1039C>T MELA-AU 3 167254709 167254709 single base substitution G A missense_variant H358Y 1072C>T MELA-AU 3 167254738 167254738 single base substitution G A 3_prime_UTR_variant MELA-AU 3 167254738 167254738 single base substitution G A intron_variant MELA-AU 3 167254738 167254738 single base substitution G A missense_variant P273L 818C>T MELA-AU 3 167254738 167254738 single base substitution G A missense_variant P337L 1010C>T MELA-AU 3 167254738 167254738 single base substitution G A missense_variant P348L 1043C>T MELA-AU 3 167254738 167254738 single base substitution G A missense_variant P98L 293C>T MELA-AU 3 167254772 167254772 single base substitution G A 3_prime_UTR_variant MELA-AU 3 167254772 167254772 single base substitution G A intron_variant MELA-AU 3 167254772 167254772 single base substitution G A stop_gained R262* 784C>T MELA-AU 3 167254772 167254772 single base substitution G A stop_gained R326* 976C>T MELA-AU 3 167254772 167254772 single base substitution G A stop_gained R337* 1009C>T MELA-AU 3 167254772 167254772 single base substitution G A stop_gained R87* 259C>T MELA-AU 3 167254800 167254800 single base substitution G A intron_variant MELA-AU 3 167254822 167254822 single base substitution C T intron_variant MELA-AU 3 167254830 167254830 single base substitution G A intron_variant MELA-AU 3 167254941 167254941 single base substitution C T intron_variant MELA-AU 3 167255002 167255002 single base substitution G A intron_variant MELA-AU 3 167255026 167255026 single base substitution C T intron_variant MELA-AU 3 167255150 167255150 single base substitution G A intron_variant MELA-AU 3 167255227 167255227 single base substitution G A intron_variant MELA-AU 3 167255254 167255254 single base substitution C T intron_variant MELA-AU 3 167255278 167255278 single base substitution C T intron_variant MELA-AU 3 167255355 167255355 single base substitution A G intron_variant MELA-AU 3 167255368 167255368 single base substitution G A intron_variant MELA-AU 3 167255461 167255461 single base substitution G A intron_variant MELA-AU 3 167255472 167255472 single base substitution T G intron_variant MELA-AU 3 167255480 167255480 single base substitution G A intron_variant MELA-AU 3 167255536 167255536 single base substitution C T intron_variant MELA-AU 3 167255585 167255585 single base substitution C T intron_variant MELA-AU 3 167255645 167255645 single base substitution C T intron_variant MELA-AU 3 167255663 167255663 single base substitution C T intron_variant MELA-AU 3 167255669 167255669 single base substitution G A intron_variant MELA-AU 3 167255670 167255670 single base substitution A C intron_variant MELA-AU 3 167255682 167255682 single base substitution C T intron_variant MELA-AU 3 167255742 167255742 single base substitution C T intron_variant MELA-AU 3 167255776 167255776 single base substitution C T intron_variant MELA-AU 3 167256024 167256024 single base substitution A G intron_variant MELA-AU 3 167256079 167256079 single base substitution C T intron_variant MELA-AU 3 167256156 167256156 single base substitution C T intron_variant MELA-AU 3 167256212 167256212 single base substitution C T intron_variant MELA-AU 3 167256252 167256252 single base substitution C T intron_variant MELA-AU 3 167256423 167256423 single base substitution G A intron_variant MELA-AU 3 167256550 167256550 single base substitution C T intron_variant MELA-AU 3 167256633 167256633 single base substitution G A intron_variant MELA-AU 3 167256695 167256695 single base substitution C T intron_variant MELA-AU 3 167256707 167256707 single base substitution G A intron_variant MELA-AU 3 167256754 167256754 single base substitution T A intron_variant MELA-AU 3 167256788 167256788 single base substitution C T intron_variant MELA-AU 3 167256908 167256908 single base substitution G A intron_variant MELA-AU 3 167256987 167256987 single base substitution A G intron_variant MELA-AU 3 167257012 167257012 single base substitution T C intron_variant MELA-AU 3 167257014 167257014 insertion of <=200bp - T intron_variant MELA-AU 3 167257141 167257141 single base substitution C T intron_variant MELA-AU 3 167257171 167257171 single base substitution G A intron_variant MELA-AU 3 167257250 167257250 single base substitution C T intron_variant MELA-AU 3 167257283 167257283 single base substitution C T intron_variant MELA-AU 3 167257301 167257301 single base substitution C T intron_variant MELA-AU 3 167257341 167257341 single base substitution C T intron_variant MELA-AU 3 167257368 167257368 single base substitution G A intron_variant MELA-AU 3 167257372 167257372 single base substitution C T intron_variant MELA-AU 3 167257510 167257510 single base substitution C T intron_variant MELA-AU 3 167257533 167257533 single base substitution C T intron_variant MELA-AU 3 167257543 167257543 single base substitution C T intron_variant MELA-AU 3 167257674 167257674 single base substitution C T intron_variant MELA-AU 3 167257785 167257785 single base substitution A T intron_variant MELA-AU 3 167257823 167257823 single base substitution G A intron_variant MELA-AU 3 167257832 167257832 single base substitution G A intron_variant MELA-AU 3 167257898 167257898 single base substitution G A intron_variant MELA-AU 3 167257908 167257908 single base substitution C T intron_variant MELA-AU 3 167257920 167257920 single base substitution G A intron_variant MELA-AU 3 167258030 167258030 single base substitution G A intron_variant MELA-AU 3 167258107 167258107 single base substitution C T intron_variant MELA-AU 3 167258237 167258237 single base substitution C T intron_variant MELA-AU 3 167258238 167258238 single base substitution C T intron_variant MELA-AU 3 167258242 167258242 single base substitution C T intron_variant MELA-AU 3 167258264 167258264 single base substitution C T intron_variant MELA-AU 3 167258271 167258271 single base substitution G A intron_variant MELA-AU 3 167258385 167258385 single base substitution G A intron_variant MELA-AU 3 167258391 167258391 single base substitution G A intron_variant MELA-AU 3 167258408 167258408 single base substitution C T intron_variant MELA-AU 3 167258472 167258472 single base substitution G A intron_variant MELA-AU 3 167258495 167258495 single base substitution C T intron_variant MELA-AU 3 167258563 167258563 single base substitution G A intron_variant MELA-AU 3 167258603 167258603 single base substitution G A intron_variant MELA-AU 3 167258606 167258606 single base substitution G A intron_variant MELA-AU 3 167258639 167258639 single base substitution G A intron_variant MELA-AU 3 167258667 167258667 single base substitution G A intron_variant MELA-AU 3 167258701 167258701 single base substitution G A intron_variant MELA-AU 3 167258804 167258804 single base substitution A T intron_variant MELA-AU 3 167258912 167258912 single base substitution C T intron_variant MELA-AU 3 167258947 167258947 single base substitution C T intron_variant MELA-AU 3 167258980 167258980 single base substitution G A intron_variant MELA-AU 3 167258997 167258997 single base substitution G A intron_variant MELA-AU 3 167259006 167259006 single base substitution C T intron_variant MELA-AU 3 167259017 167259017 single base substitution C T intron_variant MELA-AU 3 167259112 167259112 single base substitution G A intron_variant MELA-AU 3 167259124 167259124 single base substitution G A intron_variant MELA-AU 3 167259182 167259182 single base substitution C T intron_variant MELA-AU 3 167259217 167259217 single base substitution G A intron_variant MELA-AU 3 167259256 167259256 single base substitution G A intron_variant MELA-AU 3 167259403 167259403 single base substitution G A intron_variant MELA-AU 3 167259420 167259420 single base substitution G A intron_variant MELA-AU 3 167259514 167259514 single base substitution G A intron_variant MELA-AU 3 167259534 167259534 single base substitution G A intron_variant MELA-AU 3 167259535 167259535 single base substitution G A intron_variant MELA-AU 3 167259566 167259566 single base substitution C T intron_variant MELA-AU 3 167259600 167259600 single base substitution C T intron_variant MELA-AU 3 167259634 167259634 single base substitution G A intron_variant MELA-AU 3 167259639 167259639 single base substitution G A intron_variant MELA-AU 3 167259686 167259686 single base substitution C T intron_variant MELA-AU 3 167259700 167259700 single base substitution G A intron_variant MELA-AU 3 167259709 167259709 single base substitution G A intron_variant MELA-AU 3 167259766 167259766 single base substitution C T intron_variant MELA-AU 3 167259861 167259861 single base substitution C T intron_variant MELA-AU 3 167259868 167259868 single base substitution G A intron_variant MELA-AU 3 167259950 167259950 single base substitution A T intron_variant MELA-AU 3 167259995 167259995 single base substitution C T intron_variant MELA-AU 3 167260072 167260072 single base substitution G A intron_variant MELA-AU 3 167260131 167260131 single base substitution C T intron_variant MELA-AU 3 167260172 167260172 single base substitution G A intron_variant MELA-AU 3 167260253 167260253 single base substitution G A intron_variant MELA-AU 3 167260263 167260263 single base substitution C T intron_variant MELA-AU 3 167260270 167260270 single base substitution G A intron_variant MELA-AU 3 167260296 167260296 single base substitution G A intron_variant MELA-AU 3 167260352 167260352 single base substitution G A intron_variant MELA-AU 3 167260452 167260452 single base substitution T A intron_variant MELA-AU 3 167260593 167260593 single base substitution G A intron_variant MELA-AU 3 167260599 167260599 single base substitution G A intron_variant MELA-AU 3 167260777 167260777 single base substitution A G intron_variant MELA-AU 3 167260870 167260870 single base substitution G A intron_variant MELA-AU 3 167260878 167260878 single base substitution C T intron_variant MELA-AU 3 167260971 167260971 single base substitution G A intron_variant MELA-AU 3 167261004 167261004 single base substitution G A intron_variant MELA-AU 3 167261110 167261110 single base substitution G A intron_variant MELA-AU 3 167261257 167261257 single base substitution T G intron_variant MELA-AU 3 167261282 167261282 single base substitution G C intron_variant MELA-AU 3 167261328 167261328 single base substitution C T intron_variant MELA-AU 3 167261387 167261387 single base substitution G A intron_variant MELA-AU 3 167261606 167261606 single base substitution G A intron_variant MELA-AU 3 167261627 167261627 single base substitution G A intron_variant MELA-AU 3 167261836 167261836 single base substitution C T intron_variant MELA-AU 3 167261899 167261899 single base substitution G A intron_variant MELA-AU 3 167261904 167261904 single base substitution G A intron_variant MELA-AU 3 167261911 167261911 single base substitution C T intron_variant MELA-AU 3 167261944 167261944 single base substitution G A intron_variant MELA-AU 3 167262061 167262061 single base substitution G A intron_variant MELA-AU 3 167262112 167262112 single base substitution C T intron_variant MELA-AU 3 167262113 167262113 single base substitution A T intron_variant MELA-AU 3 167262213 167262213 single base substitution C G intron_variant MELA-AU 3 167262242 167262242 single base substitution G A intron_variant MELA-AU 3 167262261 167262261 single base substitution G A intron_variant MELA-AU 3 167262295 167262295 single base substitution G C intron_variant MELA-AU 3 167262446 167262446 single base substitution G A intron_variant MELA-AU 3 167262449 167262449 single base substitution C T intron_variant MELA-AU 3 167262475 167262475 single base substitution C T intron_variant MELA-AU 3 167262487 167262487 single base substitution G A intron_variant MELA-AU 3 167262527 167262527 single base substitution C T intron_variant MELA-AU 3 167262578 167262578 single base substitution C T intron_variant MELA-AU 3 167262908 167262908 single base substitution G A intron_variant MELA-AU 3 167262909 167262909 single base substitution G A intron_variant MELA-AU 3 167263035 167263035 single base substitution G A intron_variant MELA-AU 3 167263061 167263061 single base substitution G A intron_variant MELA-AU 3 167263073 167263073 single base substitution G A intron_variant MELA-AU 3 167263331 167263331 single base substitution G A intron_variant MELA-AU 3 167263501 167263501 single base substitution G A intron_variant MELA-AU 3 167263523 167263523 single base substitution G A intron_variant MELA-AU 3 167263654 167263654 single base substitution A C intron_variant MELA-AU 3 167263710 167263710 single base substitution T A intron_variant MELA-AU 3 167263772 167263772 single base substitution T C intron_variant MELA-AU 3 167263821 167263821 single base substitution C T intron_variant MELA-AU 3 167263924 167263924 single base substitution G A intron_variant MELA-AU 3 167263954 167263954 single base substitution C T intron_variant MELA-AU 3 167263995 167263995 single base substitution G A intron_variant MELA-AU 3 167264082 167264082 single base substitution G A intron_variant MELA-AU 3 167264301 167264301 single base substitution C T intron_variant MELA-AU 3 167264326 167264326 single base substitution C T intron_variant MELA-AU 3 167264574 167264574 single base substitution A T intron_variant MELA-AU 3 167264674 167264674 single base substitution C T intron_variant MELA-AU 3 167264719 167264719 single base substitution G A intron_variant MELA-AU 3 167264754 167264754 single base substitution T A intron_variant MELA-AU 3 167264863 167264863 single base substitution C T intron_variant MELA-AU 3 167265173 167265173 single base substitution G A intron_variant MELA-AU 3 167265488 167265488 single base substitution A G intron_variant MELA-AU 3 167265589 167265589 single base substitution G A intron_variant MELA-AU 3 167265594 167265594 single base substitution G A intron_variant MELA-AU 3 167265772 167265772 single base substitution C T intron_variant MELA-AU 3 167265804 167265804 single base substitution G A intron_variant MELA-AU 3 167265907 167265907 single base substitution C T intron_variant MELA-AU 3 167265975 167265975 single base substitution T G intron_variant MELA-AU 3 167266014 167266014 single base substitution G A intron_variant MELA-AU 3 167266083 167266083 single base substitution G A intron_variant MELA-AU 3 167266210 167266210 single base substitution G A intron_variant MELA-AU 3 167266221 167266221 single base substitution C T intron_variant MELA-AU 3 167266407 167266407 single base substitution G A intron_variant MELA-AU 3 167266465 167266465 single base substitution G A intron_variant MELA-AU 3 167266467 167266467 single base substitution T A intron_variant MELA-AU 3 167266641 167266641 single base substitution C A intron_variant MELA-AU 3 167266662 167266662 single base substitution G A intron_variant MELA-AU 3 167266668 167266668 single base substitution C T intron_variant MELA-AU 3 167266867 167266867 single base substitution A G intron_variant MELA-AU 3 167266969 167266969 single base substitution G A intron_variant MELA-AU 3 167266993 167266993 single base substitution C T intron_variant MELA-AU 3 167267221 167267221 single base substitution C T intron_variant MELA-AU 3 167267226 167267226 single base substitution G A intron_variant MELA-AU 3 167267363 167267363 single base substitution C T intron_variant MELA-AU 3 167267373 167267373 single base substitution G A intron_variant MELA-AU 3 167267637 167267637 single base substitution C T downstream_gene_variant MELA-AU 3 167267637 167267637 single base substitution C T intron_variant MELA-AU 3 167267638 167267638 single base substitution C T downstream_gene_variant MELA-AU 3 167267638 167267638 single base substitution C T intron_variant MELA-AU 3 167267736 167267736 single base substitution G A downstream_gene_variant MELA-AU 3 167267736 167267736 single base substitution G A intron_variant MELA-AU 3 167267816 167267816 single base substitution G A downstream_gene_variant MELA-AU 3 167267816 167267816 single base substitution G A intron_variant MELA-AU 3 167267968 167267968 single base substitution C T downstream_gene_variant MELA-AU 3 167267968 167267968 single base substitution C T intron_variant MELA-AU 3 167268104 167268104 single base substitution C T downstream_gene_variant MELA-AU 3 167268104 167268104 single base substitution C T intron_variant MELA-AU 3 167268306 167268306 single base substitution A G downstream_gene_variant MELA-AU 3 167268306 167268306 single base substitution A G intron_variant MELA-AU 3 167268370 167268370 single base substitution G A downstream_gene_variant MELA-AU 3 167268370 167268370 single base substitution G A intron_variant MELA-AU 3 167268489 167268489 single base substitution G A downstream_gene_variant MELA-AU 3 167268489 167268489 single base substitution G A intron_variant MELA-AU 3 167268490 167268490 single base substitution G A downstream_gene_variant MELA-AU 3 167268490 167268490 single base substitution G A intron_variant MELA-AU 3 167268509 167268509 single base substitution C T downstream_gene_variant MELA-AU 3 167268509 167268509 single base substitution C T intron_variant MELA-AU 3 167268509 167268510 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 167268509 167268510 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 167268510 167268510 single base substitution C T downstream_gene_variant MELA-AU 3 167268510 167268510 single base substitution C T intron_variant MELA-AU 3 167268541 167268541 single base substitution G A downstream_gene_variant MELA-AU 3 167268541 167268541 single base substitution G A intron_variant MELA-AU 3 167268583 167268583 single base substitution G A downstream_gene_variant MELA-AU 3 167268583 167268583 single base substitution G A intron_variant MELA-AU 3 167268701 167268701 single base substitution A G downstream_gene_variant MELA-AU 3 167268701 167268701 single base substitution A G intron_variant MELA-AU 3 167268893 167268893 single base substitution G A downstream_gene_variant MELA-AU 3 167268893 167268893 single base substitution G A intron_variant MELA-AU 3 167268898 167268898 single base substitution G A downstream_gene_variant MELA-AU 3 167268898 167268898 single base substitution G A intron_variant MELA-AU 3 167269136 167269136 single base substitution A T downstream_gene_variant MELA-AU 3 167269136 167269136 single base substitution A T intron_variant MELA-AU 3 167269246 167269246 single base substitution C T downstream_gene_variant MELA-AU 3 167269246 167269246 single base substitution C T intron_variant MELA-AU 3 167269382 167269382 single base substitution T C downstream_gene_variant MELA-AU 3 167269382 167269382 single base substitution T C intron_variant MELA-AU 3 167269386 167269386 single base substitution A G downstream_gene_variant MELA-AU 3 167269386 167269386 single base substitution A G intron_variant MELA-AU 3 167269464 167269464 single base substitution G A downstream_gene_variant MELA-AU 3 167269464 167269464 single base substitution G A intron_variant MELA-AU 3 167269557 167269557 single base substitution C T downstream_gene_variant MELA-AU 3 167269557 167269557 single base substitution C T intron_variant MELA-AU 3 167269702 167269702 single base substitution G A downstream_gene_variant MELA-AU 3 167269702 167269702 single base substitution G A intron_variant MELA-AU 3 167269749 167269749 single base substitution G A downstream_gene_variant MELA-AU 3 167269749 167269749 single base substitution G A intron_variant MELA-AU 3 167269779 167269779 single base substitution G A downstream_gene_variant MELA-AU 3 167269779 167269779 single base substitution G A intron_variant MELA-AU 3 167269798 167269798 single base substitution G A downstream_gene_variant MELA-AU 3 167269798 167269798 single base substitution G A intron_variant MELA-AU 3 167269814 167269814 single base substitution G A downstream_gene_variant MELA-AU 3 167269814 167269814 single base substitution G A intron_variant MELA-AU 3 167269974 167269974 single base substitution G A downstream_gene_variant MELA-AU 3 167269974 167269974 single base substitution G A intron_variant MELA-AU 3 167270111 167270111 single base substitution G A downstream_gene_variant MELA-AU 3 167270111 167270111 single base substitution G A intron_variant MELA-AU 3 167270171 167270171 single base substitution G A downstream_gene_variant MELA-AU 3 167270171 167270171 single base substitution G A intron_variant MELA-AU 3 167270173 167270173 single base substitution A T downstream_gene_variant MELA-AU 3 167270173 167270173 single base substitution A T intron_variant MELA-AU 3 167270285 167270285 single base substitution G A downstream_gene_variant MELA-AU 3 167270285 167270285 single base substitution G A intron_variant MELA-AU 3 167270293 167270293 single base substitution C T downstream_gene_variant MELA-AU 3 167270293 167270293 single base substitution C T intron_variant MELA-AU 3 167270344 167270344 single base substitution G A downstream_gene_variant MELA-AU 3 167270344 167270344 single base substitution G A intron_variant MELA-AU 3 167270510 167270510 single base substitution G A downstream_gene_variant MELA-AU 3 167270510 167270510 single base substitution G A intron_variant MELA-AU 3 167270680 167270680 single base substitution G A downstream_gene_variant MELA-AU 3 167270680 167270680 single base substitution G A intron_variant MELA-AU 3 167270727 167270727 single base substitution G A downstream_gene_variant MELA-AU 3 167270727 167270727 single base substitution G A intron_variant MELA-AU 3 167270856 167270856 single base substitution C T downstream_gene_variant MELA-AU 3 167270856 167270856 single base substitution C T intron_variant MELA-AU 3 167270899 167270899 single base substitution C T downstream_gene_variant MELA-AU 3 167270899 167270899 single base substitution C T intron_variant MELA-AU 3 167270991 167270991 single base substitution T A downstream_gene_variant MELA-AU 3 167270991 167270991 single base substitution T A intron_variant MELA-AU 3 167271068 167271068 single base substitution G A downstream_gene_variant MELA-AU 3 167271068 167271068 single base substitution G A intron_variant MELA-AU 3 167271069 167271069 single base substitution G A downstream_gene_variant MELA-AU 3 167271069 167271069 single base substitution G A intron_variant MELA-AU 3 167271087 167271087 single base substitution C T downstream_gene_variant MELA-AU 3 167271087 167271087 single base substitution C T intron_variant MELA-AU 3 167271108 167271108 single base substitution C T downstream_gene_variant MELA-AU 3 167271108 167271108 single base substitution C T intron_variant MELA-AU 3 167271271 167271271 single base substitution G A downstream_gene_variant MELA-AU 3 167271271 167271271 single base substitution G A intron_variant MELA-AU 3 167271292 167271292 single base substitution G A downstream_gene_variant MELA-AU 3 167271292 167271292 single base substitution G A intron_variant MELA-AU 3 167271340 167271340 single base substitution C T downstream_gene_variant MELA-AU 3 167271340 167271340 single base substitution C T intron_variant MELA-AU 3 167271436 167271436 single base substitution C T downstream_gene_variant MELA-AU 3 167271436 167271436 single base substitution C T intron_variant MELA-AU 3 167271483 167271483 single base substitution G A downstream_gene_variant MELA-AU 3 167271483 167271483 single base substitution G A intron_variant MELA-AU 3 167271549 167271549 single base substitution C T downstream_gene_variant MELA-AU 3 167271549 167271549 single base substitution C T intron_variant MELA-AU 3 167271667 167271667 single base substitution C T downstream_gene_variant MELA-AU 3 167271667 167271667 single base substitution C T intron_variant MELA-AU 3 167271686 167271686 single base substitution C T downstream_gene_variant MELA-AU 3 167271686 167271686 single base substitution C T intron_variant MELA-AU 3 167271817 167271817 single base substitution G A downstream_gene_variant MELA-AU 3 167271817 167271817 single base substitution G A intron_variant MELA-AU 3 167271863 167271863 single base substitution C T downstream_gene_variant MELA-AU 3 167271863 167271863 single base substitution C T intron_variant MELA-AU 3 167271900 167271900 single base substitution C T downstream_gene_variant MELA-AU 3 167271900 167271900 single base substitution C T intron_variant MELA-AU 3 167271901 167271901 single base substitution C T downstream_gene_variant MELA-AU 3 167271901 167271901 single base substitution C T intron_variant MELA-AU 3 167271926 167271926 single base substitution G A downstream_gene_variant MELA-AU 3 167271926 167271926 single base substitution G A intron_variant MELA-AU 3 167271930 167271930 single base substitution G A downstream_gene_variant MELA-AU 3 167271930 167271930 single base substitution G A intron_variant MELA-AU 3 167272010 167272010 single base substitution C T downstream_gene_variant MELA-AU 3 167272010 167272010 single base substitution C T intron_variant MELA-AU 3 167272053 167272053 single base substitution C T downstream_gene_variant MELA-AU 3 167272053 167272053 single base substitution C T intron_variant MELA-AU 3 167272071 167272071 single base substitution G A downstream_gene_variant MELA-AU 3 167272071 167272071 single base substitution G A intron_variant MELA-AU 3 167272145 167272145 single base substitution G A downstream_gene_variant MELA-AU 3 167272145 167272145 single base substitution G A intron_variant MELA-AU 3 167272182 167272182 single base substitution G A downstream_gene_variant MELA-AU 3 167272182 167272182 single base substitution G A intron_variant MELA-AU 3 167272205 167272205 single base substitution G A downstream_gene_variant MELA-AU 3 167272205 167272205 single base substitution G A intron_variant MELA-AU 3 167272429 167272429 single base substitution C T downstream_gene_variant MELA-AU 3 167272429 167272429 single base substitution C T intron_variant MELA-AU 3 167272452 167272452 single base substitution C T downstream_gene_variant MELA-AU 3 167272452 167272452 single base substitution C T intron_variant MELA-AU 3 167272452 167272452 single base substitution C T stop_gained W315* 945G>A MELA-AU 3 167272452 167272452 single base substitution C T stop_gained W326* 978G>A MELA-AU 3 167272476 167272476 single base substitution C T downstream_gene_variant MELA-AU 3 167272476 167272476 single base substitution C T intron_variant MELA-AU 3 167272476 167272476 single base substitution C T stop_gained W254* 762G>A MELA-AU 3 167272476 167272476 single base substitution C T stop_gained W307* 921G>A MELA-AU 3 167272476 167272476 single base substitution C T stop_gained W318* 954G>A MELA-AU 3 167272476 167272476 single base substitution C T stop_gained W79* 237G>A MELA-AU 3 167272527 167272527 single base substitution C T downstream_gene_variant MELA-AU 3 167272527 167272527 single base substitution C T intron_variant MELA-AU 3 167272527 167272527 single base substitution C T synonymous_variant V237V 711G>A MELA-AU 3 167272527 167272527 single base substitution C T synonymous_variant V290V 870G>A MELA-AU 3 167272527 167272527 single base substitution C T synonymous_variant V301V 903G>A MELA-AU 3 167272527 167272527 single base substitution C T synonymous_variant V62V 186G>A MELA-AU 3 167272544 167272544 single base substitution C T downstream_gene_variant MELA-AU 3 167272544 167272544 single base substitution C T intron_variant MELA-AU 3 167272544 167272544 single base substitution C T missense_variant G232R 694G>A MELA-AU 3 167272544 167272544 single base substitution C T missense_variant G285R 853G>A MELA-AU 3 167272544 167272544 single base substitution C T missense_variant G296R 886G>A MELA-AU 3 167272544 167272544 single base substitution C T missense_variant G57R 169G>A MELA-AU 3 167272621 167272621 single base substitution G A intron_variant MELA-AU 3 167272665 167272665 single base substitution G A intron_variant MELA-AU 3 167272685 167272685 single base substitution A T intron_variant MELA-AU 3 167272753 167272753 single base substitution C T intron_variant MELA-AU 3 167272833 167272833 single base substitution G A intron_variant MELA-AU 3 167272916 167272916 single base substitution G A intron_variant MELA-AU 3 167272941 167272942 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 167272994 167272994 single base substitution G A intron_variant MELA-AU 3 167273020 167273020 single base substitution G A intron_variant MELA-AU 3 167273056 167273056 single base substitution G A intron_variant MELA-AU 3 167273163 167273163 single base substitution C T intron_variant MELA-AU 3 167273169 167273169 single base substitution C T intron_variant MELA-AU 3 167273193 167273193 single base substitution A T intron_variant MELA-AU 3 167273195 167273195 single base substitution G A intron_variant MELA-AU 3 167273220 167273220 single base substitution C T intron_variant MELA-AU 3 167273228 167273228 single base substitution C T intron_variant MELA-AU 3 167273261 167273261 single base substitution G A intron_variant MELA-AU 3 167273344 167273344 single base substitution G A intron_variant MELA-AU 3 167273382 167273382 single base substitution G A intron_variant MELA-AU 3 167273383 167273383 single base substitution G A intron_variant MELA-AU 3 167273484 167273484 single base substitution G A intron_variant MELA-AU 3 167273623 167273623 single base substitution G A intron_variant MELA-AU 3 167273631 167273631 single base substitution C T intron_variant MELA-AU 3 167273764 167273764 single base substitution C T intron_variant MELA-AU 3 167273986 167273986 single base substitution A G intron_variant MELA-AU 3 167274078 167274078 single base substitution G A intron_variant MELA-AU 3 167274160 167274160 single base substitution C T intron_variant MELA-AU 3 167274414 167274414 single base substitution C T intron_variant MELA-AU 3 167274524 167274524 single base substitution A T intron_variant MELA-AU 3 167274585 167274585 single base substitution C T intron_variant MELA-AU 3 167274695 167274695 single base substitution C T intron_variant MELA-AU 3 167274878 167274878 single base substitution G A intron_variant MELA-AU 3 167274939 167274939 single base substitution C T intron_variant MELA-AU 3 167274960 167274961 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 167275092 167275092 single base substitution C T intron_variant MELA-AU 3 167275283 167275283 single base substitution A T intron_variant MELA-AU 3 167275292 167275292 single base substitution C T intron_variant MELA-AU 3 167275544 167275544 insertion of <=200bp - AAAAT intron_variant MELA-AU 3 167275560 167275560 single base substitution G A intron_variant MELA-AU 3 167275603 167275603 single base substitution G A intron_variant MELA-AU 3 167275621 167275621 single base substitution C T intron_variant MELA-AU 3 167275640 167275640 single base substitution G A intron_variant MELA-AU 3 167275787 167275787 single base substitution C T intron_variant MELA-AU 3 167275904 167275904 single base substitution G A intron_variant MELA-AU 3 167276418 167276418 single base substitution C T intron_variant MELA-AU 3 167276508 167276508 single base substitution C T intron_variant MELA-AU 3 167276551 167276551 single base substitution T C intron_variant MELA-AU 3 167276634 167276634 single base substitution C T intron_variant MELA-AU 3 167276715 167276715 single base substitution C T intron_variant MELA-AU 3 167276836 167276836 single base substitution C T intron_variant MELA-AU 3 167276907 167276907 single base substitution C T intron_variant MELA-AU 3 167276956 167276956 single base substitution C T intron_variant MELA-AU 3 167277056 167277056 single base substitution C T intron_variant MELA-AU 3 167277119 167277119 single base substitution A C intron_variant MELA-AU 3 167277205 167277205 single base substitution G A intron_variant MELA-AU 3 167277252 167277252 single base substitution G A intron_variant MELA-AU 3 167277338 167277338 single base substitution G A intron_variant MELA-AU 3 167277430 167277430 single base substitution G A intron_variant MELA-AU 3 167277588 167277588 single base substitution A T intron_variant MELA-AU 3 167277678 167277678 single base substitution T C intron_variant MELA-AU 3 167277740 167277740 single base substitution C T intron_variant MELA-AU 3 167277761 167277761 single base substitution G A intron_variant MELA-AU 3 167278049 167278049 single base substitution T C intron_variant MELA-AU 3 167278118 167278118 single base substitution C T intron_variant MELA-AU 3 167278121 167278121 single base substitution C T intron_variant MELA-AU 3 167278214 167278215 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 167278341 167278341 single base substitution G A intron_variant MELA-AU 3 167278381 167278381 single base substitution G A intron_variant MELA-AU 3 167278412 167278412 single base substitution C T intron_variant MELA-AU 3 167278573 167278573 single base substitution A G intron_variant MELA-AU 3 167278624 167278624 single base substitution G A intron_variant MELA-AU 3 167278777 167278777 single base substitution G A intron_variant MELA-AU 3 167278795 167278795 single base substitution G A intron_variant MELA-AU 3 167278950 167278950 single base substitution C T intron_variant MELA-AU 3 167278997 167278997 single base substitution C T intron_variant MELA-AU 3 167279075 167279075 single base substitution T A intron_variant MELA-AU 3 167279142 167279142 single base substitution G A intron_variant MELA-AU 3 167279187 167279187 single base substitution C T intron_variant MELA-AU 3 167279369 167279369 single base substitution C T intron_variant MELA-AU 3 167279370 167279370 single base substitution C T intron_variant MELA-AU 3 167279384 167279384 single base substitution G A intron_variant MELA-AU 3 167279435 167279435 single base substitution G A intron_variant MELA-AU 3 167279436 167279436 single base substitution G A intron_variant MELA-AU 3 167279459 167279459 single base substitution G A intron_variant MELA-AU 3 167279531 167279531 single base substitution G A intron_variant MELA-AU 3 167279538 167279538 single base substitution C T intron_variant MELA-AU 3 167279607 167279607 single base substitution C T intron_variant MELA-AU 3 167279655 167279655 single base substitution G A intron_variant MELA-AU 3 167279725 167279725 single base substitution C T intron_variant MELA-AU 3 167279725 167279726 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 167279840 167279840 single base substitution C T intron_variant MELA-AU 3 167279966 167279966 single base substitution G C intron_variant MELA-AU 3 167279978 167279978 single base substitution G A intron_variant MELA-AU 3 167280096 167280096 single base substitution A G intron_variant MELA-AU 3 167280201 167280201 single base substitution A T intron_variant MELA-AU 3 167280214 167280214 single base substitution C T intron_variant MELA-AU 3 167280301 167280301 single base substitution T A intron_variant MELA-AU 3 167280375 167280375 single base substitution G A intron_variant MELA-AU 3 167280473 167280473 single base substitution T C intron_variant MELA-AU 3 167280488 167280488 single base substitution C T intron_variant MELA-AU 3 167280554 167280554 deletion of <=200bp A - intron_variant MELA-AU 3 167280559 167280559 single base substitution C G intron_variant MELA-AU 3 167280597 167280597 single base substitution C T intron_variant MELA-AU 3 167280643 167280643 single base substitution G A intron_variant MELA-AU 3 167280704 167280704 single base substitution C T intron_variant MELA-AU 3 167280819 167280819 single base substitution C G intron_variant MELA-AU 3 167280869 167280869 single base substitution T A intron_variant MELA-AU 3 167281026 167281026 single base substitution C T intron_variant MELA-AU 3 167281335 167281335 single base substitution G A intron_variant MELA-AU 3 167281377 167281377 single base substitution G A intron_variant MELA-AU 3 167281449 167281449 single base substitution G A intron_variant MELA-AU 3 167281470 167281470 single base substitution G A intron_variant MELA-AU 3 167281552 167281552 single base substitution C T intron_variant MELA-AU 3 167281710 167281710 single base substitution G A intron_variant MELA-AU 3 167281724 167281724 single base substitution C T intron_variant MELA-AU 3 167281812 167281812 single base substitution C T intron_variant MELA-AU 3 167282087 167282087 single base substitution C T intron_variant MELA-AU 3 167282155 167282155 single base substitution G A intron_variant MELA-AU 3 167282420 167282420 single base substitution G A intron_variant MELA-AU 3 167282472 167282472 single base substitution C T intron_variant MELA-AU 3 167282481 167282481 single base substitution G A intron_variant MELA-AU 3 167282484 167282484 single base substitution G A intron_variant MELA-AU 3 167282842 167282842 single base substitution C T intron_variant MELA-AU 3 167282886 167282886 single base substitution G A intron_variant MELA-AU 3 167282943 167282943 single base substitution G A intron_variant MELA-AU 3 167283351 167283351 single base substitution G A intron_variant MELA-AU 3 167283423 167283423 single base substitution G A intron_variant MELA-AU 3 167283611 167283611 single base substitution G A intron_variant MELA-AU 3 167283612 167283612 single base substitution G A intron_variant MELA-AU 3 167283645 167283645 single base substitution C T intron_variant MELA-AU 3 167283650 167283650 single base substitution T G intron_variant MELA-AU 3 167283690 167283690 single base substitution C T intron_variant MELA-AU 3 167283712 167283712 single base substitution C T intron_variant MELA-AU 3 167283882 167283882 single base substitution A T intron_variant MELA-AU 3 167283954 167283954 single base substitution G A intron_variant MELA-AU 3 167284121 167284121 single base substitution C T intron_variant MELA-AU 3 167284154 167284154 single base substitution G A intron_variant MELA-AU 3 167284308 167284308 single base substitution T A intron_variant MELA-AU 3 167284311 167284311 single base substitution A G intron_variant MELA-AU 3 167284382 167284382 single base substitution G A intron_variant MELA-AU 3 167284384 167284384 single base substitution G A intron_variant MELA-AU 3 167284421 167284421 single base substitution C T intron_variant MELA-AU 3 167284469 167284469 single base substitution T C intron_variant MELA-AU 3 167284587 167284587 single base substitution G A intron_variant MELA-AU 3 167284687 167284687 single base substitution G A intron_variant MELA-AU 3 167284687 167284687 single base substitution G A splice_region_variant MELA-AU 3 167284740 167284740 single base substitution G A intron_variant MELA-AU 3 167284770 167284770 single base substitution G C intron_variant MELA-AU 3 167284841 167284841 single base substitution C T intron_variant MELA-AU 3 167284879 167284879 single base substitution C T intron_variant MELA-AU 3 167284956 167284956 single base substitution C T intron_variant MELA-AU 3 167284973 167284973 single base substitution C T intron_variant MELA-AU 3 167285100 167285100 single base substitution C T intron_variant MELA-AU 3 167285147 167285147 single base substitution C T intron_variant MELA-AU 3 167285174 167285174 single base substitution C T intron_variant MELA-AU 3 167285184 167285184 single base substitution C T intron_variant MELA-AU 3 167285199 167285199 single base substitution C T intron_variant MELA-AU 3 167285211 167285211 single base substitution C T intron_variant MELA-AU 3 167285243 167285243 single base substitution C T intron_variant MELA-AU 3 167285311 167285311 single base substitution G A intron_variant MELA-AU 3 167285373 167285373 single base substitution C T intron_variant MELA-AU 3 167285386 167285386 single base substitution C T intron_variant MELA-AU 3 167285410 167285410 single base substitution T A intron_variant MELA-AU 3 167285424 167285424 single base substitution C T intron_variant MELA-AU 3 167285503 167285503 single base substitution C T intron_variant MELA-AU 3 167285572 167285572 single base substitution G A intron_variant MELA-AU 3 167285629 167285629 single base substitution C T intron_variant MELA-AU 3 167285656 167285656 single base substitution G A intron_variant MELA-AU 3 167285714 167285714 single base substitution G A intron_variant MELA-AU 3 167285745 167285745 single base substitution C T intron_variant MELA-AU 3 167285796 167285796 single base substitution C T intron_variant MELA-AU 3 167285833 167285833 single base substitution C T intron_variant MELA-AU 3 167285838 167285838 single base substitution C T intron_variant MELA-AU 3 167285851 167285851 single base substitution C T intron_variant MELA-AU 3 167285853 167285853 single base substitution G A intron_variant MELA-AU 3 167285923 167285923 single base substitution C T intron_variant MELA-AU 3 167285974 167285974 single base substitution C T intron_variant MELA-AU 3 167286010 167286010 single base substitution G A intron_variant MELA-AU 3 167286084 167286084 single base substitution C T intron_variant MELA-AU 3 167286103 167286103 single base substitution C T intron_variant MELA-AU 3 167286164 167286164 single base substitution C T intron_variant MELA-AU 3 167286196 167286196 single base substitution C T intron_variant MELA-AU 3 167286280 167286280 single base substitution C T intron_variant MELA-AU 3 167286310 167286310 single base substitution C A intron_variant MELA-AU 3 167286316 167286316 single base substitution T C intron_variant MELA-AU 3 167286365 167286365 single base substitution G A intron_variant MELA-AU 3 167286412 167286412 single base substitution C T intron_variant MELA-AU 3 167286549 167286549 single base substitution A T intron_variant MELA-AU 3 167286572 167286572 single base substitution C T intron_variant MELA-AU 3 167286639 167286639 single base substitution G A intron_variant MELA-AU 3 167286829 167286829 single base substitution C T intron_variant MELA-AU 3 167286903 167286903 single base substitution C T intron_variant MELA-AU 3 167286979 167286979 single base substitution C T intron_variant MELA-AU 3 167287058 167287058 single base substitution G A intron_variant MELA-AU 3 167287318 167287318 single base substitution C T intron_variant MELA-AU 3 167287461 167287461 single base substitution G A intron_variant MELA-AU 3 167287498 167287498 single base substitution C T intron_variant MELA-AU 3 167287518 167287518 single base substitution G A intron_variant MELA-AU 3 167287605 167287605 single base substitution C T intron_variant MELA-AU 3 167287608 167287608 single base substitution A G intron_variant MELA-AU 3 167288048 167288048 single base substitution G A intron_variant MELA-AU 3 167288124 167288124 single base substitution G A intron_variant MELA-AU 3 167288150 167288150 single base substitution C T intron_variant MELA-AU 3 167288190 167288190 single base substitution G A intron_variant MELA-AU 3 167288215 167288215 single base substitution G T intron_variant MELA-AU 3 167288268 167288268 single base substitution T G intron_variant MELA-AU 3 167288396 167288396 single base substitution G A intron_variant MELA-AU 3 167288405 167288405 single base substitution G A intron_variant MELA-AU 3 167288513 167288513 single base substitution G A intron_variant MELA-AU 3 167288539 167288539 single base substitution G A intron_variant MELA-AU 3 167288621 167288621 single base substitution C T intron_variant MELA-AU 3 167288635 167288635 single base substitution C G intron_variant MELA-AU 3 167288824 167288824 single base substitution A T intron_variant MELA-AU 3 167288879 167288879 single base substitution G A intron_variant MELA-AU 3 167288914 167288914 single base substitution C T intron_variant MELA-AU 3 167288935 167288935 single base substitution C G intron_variant MELA-AU 3 167289056 167289056 single base substitution G A intron_variant MELA-AU 3 167289109 167289109 single base substitution C T intron_variant MELA-AU 3 167289158 167289158 single base substitution G A intron_variant MELA-AU 3 167289179 167289179 single base substitution G A intron_variant MELA-AU 3 167289387 167289387 single base substitution G A intron_variant MELA-AU 3 167289399 167289399 single base substitution C T intron_variant MELA-AU 3 167289831 167289831 single base substitution C T intron_variant MELA-AU 3 167289839 167289839 single base substitution C T intron_variant MELA-AU 3 167289844 167289844 single base substitution G A intron_variant MELA-AU 3 167289873 167289873 single base substitution C T intron_variant MELA-AU 3 167290158 167290158 single base substitution G A intron_variant MELA-AU 3 167290250 167290250 single base substitution T A intron_variant MELA-AU 3 167290267 167290267 single base substitution G A intron_variant MELA-AU 3 167290356 167290356 single base substitution G A intron_variant MELA-AU 3 167290431 167290431 single base substitution G A intron_variant MELA-AU 3 167290445 167290445 single base substitution G A intron_variant MELA-AU 3 167290487 167290487 single base substitution G A intron_variant MELA-AU 3 167290520 167290520 single base substitution G A intron_variant MELA-AU 3 167290581 167290581 single base substitution G A intron_variant MELA-AU 3 167290690 167290690 single base substitution C T intron_variant MELA-AU 3 167290730 167290730 single base substitution G A intron_variant MELA-AU 3 167290867 167290867 single base substitution C T intron_variant MELA-AU 3 167291091 167291091 single base substitution C T intron_variant MELA-AU 3 167291276 167291276 single base substitution G A intron_variant MELA-AU 3 167291621 167291621 single base substitution G A intron_variant MELA-AU 3 167291682 167291683 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 167291693 167291693 single base substitution C T intron_variant MELA-AU 3 167291742 167291742 single base substitution C T intron_variant MELA-AU 3 167291745 167291745 single base substitution C T intron_variant MELA-AU 3 167291902 167291902 single base substitution C T intron_variant MELA-AU 3 167291966 167291966 single base substitution G A intron_variant MELA-AU 3 167291978 167291978 single base substitution C T intron_variant MELA-AU 3 167291986 167291986 single base substitution G A intron_variant MELA-AU 3 167292058 167292058 single base substitution G A intron_variant MELA-AU 3 167292140 167292140 single base substitution G A intron_variant MELA-AU 3 167292155 167292155 single base substitution C T intron_variant MELA-AU 3 167292232 167292232 single base substitution G A intron_variant MELA-AU 3 167292475 167292475 single base substitution C T intron_variant MELA-AU 3 167292478 167292478 single base substitution G A intron_variant MELA-AU 3 167292646 167292646 single base substitution C T intron_variant MELA-AU 3 167292673 167292673 single base substitution G A intron_variant MELA-AU 3 167292714 167292714 single base substitution C T intron_variant MELA-AU 3 167292849 167292849 single base substitution G A intron_variant MELA-AU 3 167292862 167292862 single base substitution G A intron_variant MELA-AU 3 167293003 167293003 single base substitution C T 5_prime_UTR_variant MELA-AU 3 167293003 167293003 single base substitution C T intron_variant MELA-AU 3 167293074 167293074 single base substitution G A intron_variant MELA-AU 3 167293074 167293074 single base substitution G A upstream_gene_variant MELA-AU 3 167293144 167293144 single base substitution C T intron_variant MELA-AU 3 167293144 167293144 single base substitution C T upstream_gene_variant MELA-AU 3 167293235 167293235 single base substitution C T intron_variant MELA-AU 3 167293235 167293235 single base substitution C T upstream_gene_variant MELA-AU 3 167293307 167293307 single base substitution C T intron_variant MELA-AU 3 167293307 167293307 single base substitution C T upstream_gene_variant MELA-AU 3 167293333 167293333 single base substitution C T intron_variant MELA-AU 3 167293333 167293333 single base substitution C T upstream_gene_variant MELA-AU 3 167293337 167293337 single base substitution A G intron_variant MELA-AU 3 167293337 167293337 single base substitution A G upstream_gene_variant MELA-AU 3 167293464 167293464 single base substitution G A intron_variant MELA-AU 3 167293464 167293464 single base substitution G A upstream_gene_variant MELA-AU 3 167293533 167293533 single base substitution C T intron_variant MELA-AU 3 167293533 167293533 single base substitution C T upstream_gene_variant MELA-AU 3 167293583 167293583 single base substitution C T intron_variant MELA-AU 3 167293583 167293583 single base substitution C T upstream_gene_variant MELA-AU 3 167293588 167293588 single base substitution C T intron_variant MELA-AU 3 167293588 167293588 single base substitution C T upstream_gene_variant MELA-AU 3 167293689 167293689 single base substitution A T intron_variant MELA-AU 3 167293689 167293689 single base substitution A T upstream_gene_variant MELA-AU 3 167293815 167293815 single base substitution G A 3_prime_UTR_variant MELA-AU 3 167293815 167293815 single base substitution G A intron_variant MELA-AU 3 167293815 167293815 single base substitution G A missense_variant S126L 377C>T MELA-AU 3 167293815 167293815 single base substitution G A missense_variant S179L 536C>T MELA-AU 3 167293815 167293815 single base substitution G A missense_variant S190L 569C>T MELA-AU 3 167293815 167293815 single base substitution G A missense_variant S467L 1400C>T MELA-AU 3 167293815 167293815 single base substitution G A upstream_gene_variant MELA-AU 3 167293896 167293896 single base substitution C T 3_prime_UTR_variant MELA-AU 3 167293896 167293896 single base substitution C T intron_variant MELA-AU 3 167293896 167293896 single base substitution C T missense_variant R152K 455G>A MELA-AU 3 167293896 167293896 single base substitution C T missense_variant R163K 488G>A MELA-AU 3 167293896 167293896 single base substitution C T missense_variant R440K 1319G>A MELA-AU 3 167293896 167293896 single base substitution C T missense_variant R99K 296G>A MELA-AU 3 167293896 167293896 single base substitution C T upstream_gene_variant MELA-AU 3 167293990 167293990 single base substitution C T intron_variant MELA-AU 3 167293990 167293990 single base substitution C T upstream_gene_variant MELA-AU 3 167294138 167294138 single base substitution C T intron_variant MELA-AU 3 167294138 167294138 single base substitution C T upstream_gene_variant MELA-AU 3 167294145 167294145 single base substitution G A intron_variant MELA-AU 3 167294145 167294145 single base substitution G A upstream_gene_variant MELA-AU 3 167294262 167294262 single base substitution G A intron_variant MELA-AU 3 167294262 167294262 single base substitution G A upstream_gene_variant MELA-AU 3 167294488 167294488 single base substitution G A intron_variant MELA-AU 3 167294488 167294488 single base substitution G A upstream_gene_variant MELA-AU 3 167294492 167294492 single base substitution G A intron_variant MELA-AU 3 167294492 167294492 single base substitution G A upstream_gene_variant MELA-AU 3 167294505 167294505 single base substitution G A intron_variant MELA-AU 3 167294505 167294505 single base substitution G A upstream_gene_variant MELA-AU 3 167294518 167294518 single base substitution G A intron_variant MELA-AU 3 167294518 167294518 single base substitution G A upstream_gene_variant MELA-AU 3 167294522 167294522 single base substitution G A intron_variant MELA-AU 3 167294522 167294522 single base substitution G A upstream_gene_variant MELA-AU 3 167294876 167294876 single base substitution C T intron_variant MELA-AU 3 167294876 167294876 single base substitution C T upstream_gene_variant MELA-AU 3 167295123 167295123 single base substitution C A intron_variant MELA-AU 3 167295123 167295123 single base substitution C A upstream_gene_variant MELA-AU 3 167295230 167295230 single base substitution C T intron_variant MELA-AU 3 167295230 167295230 single base substitution C T upstream_gene_variant MELA-AU 3 167295259 167295259 single base substitution C T intron_variant MELA-AU 3 167295259 167295259 single base substitution C T upstream_gene_variant MELA-AU 3 167295296 167295296 single base substitution G A intron_variant MELA-AU 3 167295296 167295296 single base substitution G A upstream_gene_variant MELA-AU 3 167295435 167295435 single base substitution C T intron_variant MELA-AU 3 167295435 167295435 single base substitution C T upstream_gene_variant MELA-AU 3 167295462 167295462 single base substitution C T intron_variant MELA-AU 3 167295462 167295462 single base substitution C T upstream_gene_variant MELA-AU 3 167295488 167295488 single base substitution G A intron_variant MELA-AU 3 167295488 167295488 single base substitution G A upstream_gene_variant MELA-AU 3 167295552 167295552 single base substitution A G intron_variant MELA-AU 3 167295552 167295552 single base substitution A G upstream_gene_variant MELA-AU 3 167295578 167295578 single base substitution C T intron_variant MELA-AU 3 167295578 167295578 single base substitution C T upstream_gene_variant MELA-AU 3 167295645 167295645 single base substitution G A intron_variant MELA-AU 3 167295645 167295645 single base substitution G A upstream_gene_variant MELA-AU 3 167295660 167295660 single base substitution A G intron_variant MELA-AU 3 167295660 167295660 single base substitution A G upstream_gene_variant MELA-AU 3 167295856 167295856 single base substitution C T intron_variant MELA-AU 3 167295856 167295856 single base substitution C T upstream_gene_variant MELA-AU 3 167295901 167295901 single base substitution C T intron_variant MELA-AU 3 167295901 167295901 single base substitution C T upstream_gene_variant MELA-AU 3 167295937 167295937 single base substitution C T intron_variant MELA-AU 3 167295937 167295937 single base substitution C T upstream_gene_variant MELA-AU 3 167296015 167296015 single base substitution C T intron_variant MELA-AU 3 167296015 167296015 single base substitution C T upstream_gene_variant MELA-AU 3 167296039 167296039 single base substitution C T intron_variant MELA-AU 3 167296039 167296039 single base substitution C T upstream_gene_variant MELA-AU 3 167296300 167296300 single base substitution G A intron_variant MELA-AU 3 167296300 167296300 single base substitution G A upstream_gene_variant MELA-AU 3 167296307 167296307 single base substitution T G intron_variant MELA-AU 3 167296307 167296307 single base substitution T G upstream_gene_variant MELA-AU 3 167296309 167296309 single base substitution C G intron_variant MELA-AU 3 167296309 167296309 single base substitution C G upstream_gene_variant MELA-AU 3 167296407 167296407 single base substitution A T intron_variant MELA-AU 3 167296407 167296407 single base substitution A T upstream_gene_variant MELA-AU 3 167296488 167296488 single base substitution G A intron_variant MELA-AU 3 167296488 167296488 single base substitution G A upstream_gene_variant MELA-AU 3 167296653 167296653 single base substitution G T intron_variant MELA-AU 3 167296653 167296653 single base substitution G T upstream_gene_variant MELA-AU 3 167296711 167296711 single base substitution C T intron_variant MELA-AU 3 167296711 167296711 single base substitution C T upstream_gene_variant MELA-AU 3 167296764 167296764 single base substitution C T intron_variant MELA-AU 3 167296764 167296764 single base substitution C T upstream_gene_variant MELA-AU 3 167296807 167296807 single base substitution G A intron_variant MELA-AU 3 167296807 167296807 single base substitution G A upstream_gene_variant MELA-AU 3 167296826 167296826 single base substitution G A intron_variant MELA-AU 3 167296826 167296826 single base substitution G A upstream_gene_variant MELA-AU 3 167296877 167296877 single base substitution C T intron_variant MELA-AU 3 167296877 167296877 single base substitution C T upstream_gene_variant MELA-AU 3 167296914 167296914 single base substitution C T intron_variant MELA-AU 3 167296914 167296914 single base substitution C T upstream_gene_variant MELA-AU 3 167296953 167296953 single base substitution C T intron_variant MELA-AU 3 167296953 167296953 single base substitution C T upstream_gene_variant MELA-AU 3 167297086 167297086 single base substitution C A intron_variant MELA-AU 3 167297086 167297086 single base substitution C A upstream_gene_variant MELA-AU 3 167297114 167297114 single base substitution G A intron_variant MELA-AU 3 167297114 167297114 single base substitution G A upstream_gene_variant MELA-AU 3 167297245 167297245 single base substitution A T intron_variant MELA-AU 3 167297245 167297245 single base substitution A T upstream_gene_variant MELA-AU 3 167297262 167297262 single base substitution G A intron_variant MELA-AU 3 167297262 167297262 single base substitution G A upstream_gene_variant MELA-AU 3 167297491 167297491 single base substitution C T intron_variant MELA-AU 3 167297491 167297491 single base substitution C T upstream_gene_variant MELA-AU 3 167297495 167297495 single base substitution G A intron_variant MELA-AU 3 167297495 167297495 single base substitution G A upstream_gene_variant MELA-AU 3 167297591 167297591 single base substitution C T intron_variant MELA-AU 3 167297591 167297591 single base substitution C T upstream_gene_variant MELA-AU 3 167297651 167297651 single base substitution C A intron_variant MELA-AU 3 167297651 167297651 single base substitution C A upstream_gene_variant MELA-AU 3 167297680 167297680 single base substitution G A intron_variant MELA-AU 3 167297680 167297680 single base substitution G A upstream_gene_variant MELA-AU 3 167297782 167297782 single base substitution C T intron_variant MELA-AU 3 167297782 167297782 single base substitution C T upstream_gene_variant MELA-AU 3 167297789 167297789 single base substitution C T intron_variant MELA-AU 3 167297789 167297789 single base substitution C T upstream_gene_variant MELA-AU 3 167297853 167297853 single base substitution G A intron_variant MELA-AU 3 167297853 167297853 single base substitution G A upstream_gene_variant MELA-AU 3 167297900 167297900 single base substitution T C intron_variant MELA-AU 3 167297900 167297900 single base substitution T C upstream_gene_variant MELA-AU 3 167297940 167297940 single base substitution C T intron_variant MELA-AU 3 167297940 167297940 single base substitution C T upstream_gene_variant MELA-AU 3 167298077 167298077 single base substitution G A intron_variant MELA-AU 3 167298140 167298140 single base substitution C T intron_variant MELA-AU 3 167298226 167298226 single base substitution G A intron_variant MELA-AU 3 167298240 167298240 single base substitution C T intron_variant MELA-AU 3 167298242 167298242 single base substitution G A intron_variant MELA-AU 3 167298302 167298302 single base substitution C T intron_variant MELA-AU 3 167298325 167298325 single base substitution C T intron_variant MELA-AU 3 167298346 167298346 single base substitution G A intron_variant MELA-AU 3 167298364 167298364 single base substitution G A intron_variant MELA-AU 3 167298611 167298611 single base substitution C T intron_variant MELA-AU 3 167298640 167298640 single base substitution C T intron_variant MELA-AU 3 167298919 167298919 single base substitution G A intron_variant MELA-AU 3 167299037 167299037 single base substitution G A intron_variant MELA-AU 3 167299097 167299097 single base substitution G A intron_variant MELA-AU 3 167299130 167299130 single base substitution C T intron_variant MELA-AU 3 167299252 167299252 single base substitution C T intron_variant MELA-AU 3 167299290 167299290 single base substitution G A intron_variant MELA-AU 3 167299325 167299325 single base substitution G A intron_variant MELA-AU 3 167299365 167299365 single base substitution G A intron_variant MELA-AU 3 167299423 167299423 single base substitution C T intron_variant MELA-AU 3 167299547 167299547 single base substitution G A intron_variant MELA-AU 3 167299655 167299655 single base substitution C T intron_variant MELA-AU 3 167299925 167299925 single base substitution G A intron_variant MELA-AU 3 167299993 167299993 single base substitution G A intron_variant MELA-AU 3 167300033 167300033 single base substitution A T intron_variant MELA-AU 3 167300202 167300202 single base substitution C T intron_variant MELA-AU 3 167300363 167300363 single base substitution C T intron_variant MELA-AU 3 167300436 167300436 single base substitution C T intron_variant MELA-AU 3 167300445 167300445 single base substitution C T intron_variant MELA-AU 3 167300458 167300458 single base substitution T C intron_variant MELA-AU 3 167300556 167300556 single base substitution G A intron_variant MELA-AU 3 167300755 167300755 single base substitution C T intron_variant MELA-AU 3 167300779 167300779 single base substitution G A intron_variant MELA-AU 3 167301049 167301049 single base substitution C T intron_variant MELA-AU 3 167301090 167301090 single base substitution T A intron_variant MELA-AU 3 167301117 167301117 single base substitution C T intron_variant MELA-AU 3 167301154 167301154 single base substitution G A intron_variant MELA-AU 3 167301249 167301249 single base substitution G A intron_variant MELA-AU 3 167301256 167301256 single base substitution G A intron_variant MELA-AU 3 167301330 167301330 single base substitution C G intron_variant MELA-AU 3 167301394 167301394 single base substitution G A intron_variant MELA-AU 3 167301412 167301412 single base substitution G A intron_variant MELA-AU 3 167301435 167301435 single base substitution G A intron_variant MELA-AU 3 167301459 167301459 single base substitution G A intron_variant MELA-AU 3 167301464 167301464 single base substitution G A intron_variant MELA-AU 3 167301535 167301535 single base substitution G A intron_variant MELA-AU 3 167301860 167301860 single base substitution G A intron_variant MELA-AU 3 167301942 167301942 single base substitution C T intron_variant MELA-AU 3 167301956 167301956 single base substitution T A intron_variant MELA-AU 3 167301976 167301976 single base substitution C T intron_variant MELA-AU 3 167301982 167301982 single base substitution G A intron_variant MELA-AU 3 167302015 167302015 single base substitution G A intron_variant MELA-AU 3 167302130 167302130 single base substitution C T intron_variant MELA-AU 3 167302248 167302248 single base substitution G A intron_variant MELA-AU 3 167302321 167302321 single base substitution C T intron_variant MELA-AU 3 167302389 167302389 single base substitution G A intron_variant MELA-AU 3 167302418 167302418 single base substitution C T intron_variant MELA-AU 3 167302490 167302490 single base substitution A T intron_variant MELA-AU 3 167302636 167302636 single base substitution T A intron_variant MELA-AU 3 167302682 167302682 single base substitution C T intron_variant MELA-AU 3 167302760 167302760 single base substitution C T intron_variant MELA-AU 3 167302825 167302825 single base substitution C T intron_variant MELA-AU 3 167302997 167302997 single base substitution T A intron_variant MELA-AU 3 167303036 167303036 single base substitution C T intron_variant MELA-AU 3 167303374 167303374 single base substitution C T intron_variant MELA-AU 3 167303540 167303540 single base substitution T A intron_variant MELA-AU 3 167303615 167303615 single base substitution G T intron_variant MELA-AU 3 167303771 167303771 single base substitution G A intron_variant MELA-AU 3 167303906 167303906 single base substitution C T intron_variant MELA-AU 3 167303923 167303923 single base substitution G A intron_variant MELA-AU 3 167304044 167304044 single base substitution G A intron_variant MELA-AU 3 167304086 167304086 single base substitution G A intron_variant MELA-AU 3 167304159 167304159 single base substitution G A intron_variant MELA-AU 3 167304244 167304244 single base substitution G A intron_variant MELA-AU 3 167304261 167304261 single base substitution C T intron_variant MELA-AU 3 167304279 167304279 single base substitution T C intron_variant MELA-AU 3 167304787 167304787 single base substitution A T intron_variant MELA-AU 3 167304992 167304992 single base substitution G A intron_variant MELA-AU 3 167305042 167305042 single base substitution T G intron_variant MELA-AU 3 167305243 167305243 single base substitution G A intron_variant MELA-AU 3 167305285 167305285 single base substitution C T intron_variant MELA-AU 3 167305302 167305302 single base substitution C T intron_variant MELA-AU 3 167305416 167305416 single base substitution G A intron_variant MELA-AU 3 167305497 167305497 single base substitution C T intron_variant MELA-AU 3 167305503 167305503 single base substitution C T intron_variant MELA-AU 3 167305514 167305514 single base substitution C T intron_variant MELA-AU 3 167305579 167305579 single base substitution C T intron_variant MELA-AU 3 167305581 167305581 single base substitution T A intron_variant MELA-AU 3 167305600 167305600 single base substitution T C intron_variant MELA-AU 3 167305638 167305638 single base substitution G A intron_variant MELA-AU 3 167305903 167305903 single base substitution C T intron_variant MELA-AU 3 167305965 167305965 single base substitution C T intron_variant MELA-AU 3 167306001 167306001 single base substitution C T intron_variant MELA-AU 3 167306089 167306089 single base substitution G A intron_variant MELA-AU 3 167306124 167306124 single base substitution C T intron_variant MELA-AU 3 167306216 167306216 single base substitution C T intron_variant MELA-AU 3 167306222 167306222 single base substitution G A intron_variant MELA-AU 3 167306276 167306276 single base substitution C T intron_variant MELA-AU 3 167306457 167306457 single base substitution G A intron_variant MELA-AU 3 167306499 167306499 single base substitution C T intron_variant MELA-AU 3 167306518 167306518 single base substitution T C intron_variant MELA-AU 3 167306586 167306586 single base substitution C T intron_variant MELA-AU 3 167306604 167306604 single base substitution C T intron_variant MELA-AU 3 167306672 167306672 single base substitution G A intron_variant MELA-AU 3 167306683 167306683 single base substitution C T intron_variant MELA-AU 3 167306754 167306754 single base substitution C T intron_variant MELA-AU 3 167306785 167306785 single base substitution C T intron_variant MELA-AU 3 167306812 167306812 single base substitution C T intron_variant MELA-AU 3 167306989 167306989 single base substitution C T intron_variant MELA-AU 3 167307024 167307024 single base substitution G A intron_variant MELA-AU 3 167307237 167307237 single base substitution G A intron_variant MELA-AU 3 167307247 167307247 single base substitution C T intron_variant MELA-AU 3 167307346 167307346 single base substitution C T intron_variant MELA-AU 3 167307454 167307454 single base substitution T C intron_variant MELA-AU 3 167307686 167307686 single base substitution C T intron_variant MELA-AU 3 167307777 167307777 single base substitution G A intron_variant MELA-AU 3 167307808 167307808 single base substitution G A intron_variant MELA-AU 3 167307894 167307894 single base substitution C T intron_variant MELA-AU 3 167307907 167307907 single base substitution G A intron_variant MELA-AU 3 167307914 167307914 single base substitution T C intron_variant MELA-AU 3 167307957 167307957 single base substitution T C intron_variant MELA-AU 3 167307970 167307970 single base substitution C T intron_variant MELA-AU 3 167308117 167308117 single base substitution T C intron_variant MELA-AU 3 167308216 167308216 single base substitution G A intron_variant MELA-AU 3 167308423 167308423 single base substitution C T intron_variant MELA-AU 3 167308584 167308584 single base substitution T A intron_variant MELA-AU 3 167308590 167308590 single base substitution C T intron_variant MELA-AU 3 167308650 167308650 single base substitution C T intron_variant MELA-AU 3 167308675 167308675 single base substitution C T intron_variant MELA-AU 3 167308695 167308695 single base substitution C T intron_variant MELA-AU 3 167308709 167308709 single base substitution C T intron_variant MELA-AU 3 167308870 167308870 single base substitution C T intron_variant MELA-AU 3 167308923 167308923 single base substitution C T intron_variant MELA-AU 3 167308933 167308933 single base substitution C T intron_variant MELA-AU 3 167308985 167308985 single base substitution C T intron_variant MELA-AU 3 167309039 167309039 single base substitution A C intron_variant MELA-AU 3 167309154 167309154 single base substitution G A intron_variant MELA-AU 3 167309318 167309318 single base substitution G A intron_variant MELA-AU 3 167309324 167309324 single base substitution C T intron_variant MELA-AU 3 167309432 167309432 single base substitution C T intron_variant MELA-AU 3 167309534 167309534 single base substitution C T intron_variant MELA-AU 3 167309542 167309542 single base substitution C T intron_variant MELA-AU 3 167309652 167309652 single base substitution G A intron_variant MELA-AU 3 167309757 167309757 single base substitution C T intron_variant MELA-AU 3 167309769 167309769 single base substitution C T intron_variant MELA-AU 3 167309782 167309782 single base substitution C T intron_variant MELA-AU 3 167309872 167309872 single base substitution T C intron_variant MELA-AU 3 167309997 167309997 single base substitution C T intron_variant MELA-AU 3 167310124 167310124 single base substitution T C intron_variant MELA-AU 3 167310187 167310187 single base substitution C T intron_variant MELA-AU 3 167310208 167310208 single base substitution G A intron_variant MELA-AU 3 167310305 167310305 single base substitution C T intron_variant MELA-AU 3 167310332 167310332 single base substitution C T intron_variant MELA-AU 3 167310345 167310345 single base substitution C T intron_variant MELA-AU 3 167310391 167310391 single base substitution T A intron_variant MELA-AU 3 167310421 167310421 single base substitution C T intron_variant MELA-AU 3 167310452 167310452 single base substitution C T intron_variant MELA-AU 3 167310554 167310554 single base substitution C T intron_variant MELA-AU 3 167310592 167310592 single base substitution G A intron_variant MELA-AU 3 167310614 167310614 single base substitution C T intron_variant MELA-AU 3 167310663 167310663 single base substitution G A intron_variant MELA-AU 3 167310691 167310691 single base substitution C T intron_variant MELA-AU 3 167310737 167310737 single base substitution C T intron_variant MELA-AU 3 167310796 167310796 single base substitution C T intron_variant MELA-AU 3 167310807 167310807 single base substitution C T intron_variant MELA-AU 3 167310812 167310812 single base substitution G A intron_variant MELA-AU 3 167310917 167310917 single base substitution G C intron_variant MELA-AU 3 167310932 167310932 single base substitution C T intron_variant MELA-AU 3 167310944 167310944 single base substitution G A intron_variant MELA-AU 3 167310952 167310952 single base substitution C T intron_variant MELA-AU 3 167310992 167310992 single base substitution C T intron_variant MELA-AU 3 167311114 167311114 single base substitution T A intron_variant MELA-AU 3 167311173 167311173 single base substitution T G intron_variant MELA-AU 3 167311208 167311208 single base substitution C T intron_variant MELA-AU 3 167311235 167311235 single base substitution G A intron_variant MELA-AU 3 167311518 167311518 single base substitution T A intron_variant MELA-AU 3 167311628 167311628 single base substitution G C intron_variant MELA-AU 3 167311655 167311655 single base substitution G A intron_variant MELA-AU 3 167311663 167311663 single base substitution G A intron_variant MELA-AU 3 167311757 167311757 single base substitution C T intron_variant MELA-AU 3 167311759 167311759 single base substitution C T intron_variant MELA-AU 3 167311763 167311763 single base substitution C T intron_variant MELA-AU 3 167311825 167311825 single base substitution G A intron_variant MELA-AU 3 167311866 167311866 single base substitution C T intron_variant MELA-AU 3 167311897 167311897 single base substitution G A intron_variant MELA-AU 3 167311912 167311912 single base substitution G A intron_variant MELA-AU 3 167311918 167311918 single base substitution G A intron_variant MELA-AU 3 167311950 167311950 single base substitution G A intron_variant MELA-AU 3 167311986 167311986 single base substitution G A intron_variant MELA-AU 3 167312018 167312018 single base substitution G A intron_variant MELA-AU 3 167312063 167312063 single base substitution T C intron_variant MELA-AU 3 167312165 167312165 single base substitution C T intron_variant MELA-AU 3 167312220 167312220 single base substitution G A intron_variant MELA-AU 3 167312227 167312227 single base substitution G A intron_variant MELA-AU 3 167312242 167312242 single base substitution G A intron_variant MELA-AU 3 167312270 167312270 single base substitution C T intron_variant MELA-AU 3 167312354 167312354 single base substitution G A intron_variant MELA-AU 3 167313048 167313048 single base substitution G A intron_variant MELA-AU 3 167313166 167313166 single base substitution C T intron_variant MELA-AU 3 167313225 167313225 single base substitution C T intron_variant MELA-AU 3 167313266 167313266 single base substitution G A intron_variant MELA-AU 3 167313388 167313388 single base substitution G A intron_variant MELA-AU 3 167313414 167313414 single base substitution C T intron_variant MELA-AU 3 167314612 167314612 single base substitution A C intron_variant MELA-AU 3 167314846 167314846 single base substitution G A intron_variant MELA-AU 3 167314849 167314849 single base substitution G A intron_variant MELA-AU 3 167314880 167314880 single base substitution C T intron_variant MELA-AU 3 167314881 167314881 single base substitution G A intron_variant MELA-AU 3 167314906 167314906 single base substitution G A intron_variant MELA-AU 3 167314933 167314933 single base substitution G A intron_variant MELA-AU 3 167314995 167314995 single base substitution C T intron_variant MELA-AU 3 167315064 167315064 single base substitution G A intron_variant MELA-AU 3 167315114 167315114 single base substitution G A intron_variant MELA-AU 3 167315146 167315146 single base substitution G A intron_variant MELA-AU 3 167315231 167315231 single base substitution G A intron_variant MELA-AU 3 167315506 167315506 single base substitution G A intron_variant MELA-AU 3 167315572 167315572 single base substitution C T intron_variant MELA-AU 3 167315596 167315596 single base substitution C T intron_variant MELA-AU 3 167315693 167315693 single base substitution G A intron_variant MELA-AU 3 167315721 167315721 single base substitution G A intron_variant MELA-AU 3 167315767 167315767 single base substitution G A intron_variant MELA-AU 3 167315785 167315785 single base substitution G A intron_variant MELA-AU 3 167315808 167315809 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 167315855 167315855 single base substitution G A intron_variant MELA-AU 3 167315890 167315890 single base substitution C T intron_variant MELA-AU 3 167315916 167315916 single base substitution A G intron_variant MELA-AU 3 167316037 167316037 single base substitution G A intron_variant MELA-AU 3 167316159 167316159 single base substitution G A intron_variant MELA-AU 3 167316196 167316196 single base substitution C T intron_variant MELA-AU 3 167316215 167316215 single base substitution C T intron_variant MELA-AU 3 167316225 167316225 single base substitution G A intron_variant MELA-AU 3 167316238 167316238 single base substitution G A intron_variant MELA-AU 3 167316297 167316297 single base substitution G A intron_variant MELA-AU 3 167316478 167316478 single base substitution C T intron_variant MELA-AU 3 167316556 167316556 single base substitution G A intron_variant MELA-AU 3 167316593 167316593 single base substitution C T intron_variant MELA-AU 3 167316663 167316663 single base substitution G A intron_variant MELA-AU 3 167316671 167316671 single base substitution C T intron_variant MELA-AU 3 167316732 167316732 single base substitution C T intron_variant MELA-AU 3 167316823 167316823 single base substitution G A intron_variant MELA-AU 3 167316888 167316888 single base substitution T C intron_variant MELA-AU 3 167316892 167316892 single base substitution C T intron_variant MELA-AU 3 167317091 167317091 single base substitution C T intron_variant MELA-AU 3 167317142 167317142 single base substitution C T intron_variant MELA-AU 3 167317164 167317164 single base substitution C T intron_variant MELA-AU 3 167317357 167317357 single base substitution C T intron_variant MELA-AU 3 167317397 167317397 single base substitution C T intron_variant MELA-AU 3 167317440 167317440 single base substitution C T intron_variant MELA-AU 3 167317557 167317557 single base substitution G A intron_variant MELA-AU 3 167317675 167317675 single base substitution C T intron_variant MELA-AU 3 167317741 167317741 single base substitution G A intron_variant MELA-AU 3 167317769 167317769 single base substitution C T intron_variant MELA-AU 3 167317800 167317800 single base substitution G A intron_variant MELA-AU 3 167317867 167317867 single base substitution G A intron_variant MELA-AU 3 167317883 167317883 single base substitution G A intron_variant MELA-AU 3 167317896 167317896 single base substitution C T intron_variant MELA-AU 3 167317917 167317917 single base substitution C T intron_variant MELA-AU 3 167317936 167317936 single base substitution C T intron_variant MELA-AU 3 167317940 167317940 single base substitution C T intron_variant MELA-AU 3 167318000 167318000 single base substitution G A intron_variant MELA-AU 3 167318069 167318069 single base substitution C T intron_variant MELA-AU 3 167318119 167318119 single base substitution G A intron_variant MELA-AU 3 167318169 167318169 single base substitution G A intron_variant MELA-AU 3 167318205 167318205 single base substitution C T intron_variant MELA-AU 3 167318260 167318260 single base substitution G A intron_variant MELA-AU 3 167318323 167318323 single base substitution C T intron_variant MELA-AU 3 167318490 167318490 single base substitution G A intron_variant MELA-AU 3 167318496 167318496 single base substitution C T intron_variant MELA-AU 3 167318574 167318574 single base substitution G A intron_variant MELA-AU 3 167318579 167318579 single base substitution G A intron_variant MELA-AU 3 167318664 167318664 single base substitution G A intron_variant MELA-AU 3 167318676 167318676 single base substitution G C intron_variant MELA-AU 3 167318747 167318747 single base substitution C T intron_variant MELA-AU 3 167318814 167318814 single base substitution G A intron_variant MELA-AU 3 167318947 167318947 single base substitution G A intron_variant MELA-AU 3 167319049 167319049 single base substitution G A intron_variant MELA-AU 3 167319448 167319448 single base substitution G A intron_variant MELA-AU 3 167319475 167319475 single base substitution T C intron_variant MELA-AU 3 167319526 167319526 single base substitution C T intron_variant MELA-AU 3 167319531 167319531 single base substitution C T intron_variant MELA-AU 3 167319670 167319670 single base substitution G A intron_variant MELA-AU 3 167319690 167319690 single base substitution G A intron_variant MELA-AU 3 167319695 167319695 single base substitution G A intron_variant MELA-AU 3 167319765 167319765 single base substitution T G intron_variant MELA-AU 3 167319800 167319800 single base substitution G A intron_variant MELA-AU 3 167319839 167319839 single base substitution A T intron_variant MELA-AU 3 167319856 167319856 single base substitution G A intron_variant MELA-AU 3 167319979 167319979 single base substitution G A 3_prime_UTR_variant MELA-AU 3 167319979 167319979 single base substitution G A intron_variant MELA-AU 3 167319979 167319979 single base substitution G A missense_variant A116V 347C>T MELA-AU 3 167319979 167319979 single base substitution G A missense_variant A127V 380C>T MELA-AU 3 167319979 167319979 single base substitution G A missense_variant A404V 1211C>T MELA-AU 3 167319979 167319979 single base substitution G A missense_variant A63V 188C>T MELA-AU 3 167320029 167320029 single base substitution C T 3_prime_UTR_variant MELA-AU 3 167320029 167320029 single base substitution C T intron_variant MELA-AU 3 167320029 167320029 single base substitution C T stop_gained W110* 330G>A MELA-AU 3 167320029 167320029 single base substitution C T stop_gained W387* 1161G>A MELA-AU 3 167320029 167320029 single base substitution C T stop_gained W46* 138G>A MELA-AU 3 167320029 167320029 single base substitution C T stop_gained W99* 297G>A MELA-AU 3 167320213 167320213 single base substitution G A intron_variant MELA-AU 3 167320232 167320232 single base substitution G A intron_variant MELA-AU 3 167320265 167320265 single base substitution G A intron_variant MELA-AU 3 167320331 167320331 single base substitution C T intron_variant MELA-AU 3 167320382 167320382 single base substitution C T intron_variant MELA-AU 3 167320418 167320418 single base substitution C T intron_variant MELA-AU 3 167320485 167320485 single base substitution C T intron_variant MELA-AU 3 167320582 167320582 single base substitution G A intron_variant MELA-AU 3 167320800 167320800 single base substitution G A intron_variant MELA-AU 3 167320829 167320829 single base substitution C T intron_variant MELA-AU 3 167321008 167321008 single base substitution C G intron_variant MELA-AU 3 167321045 167321045 single base substitution C T intron_variant MELA-AU 3 167321087 167321087 single base substitution A T intron_variant MELA-AU 3 167321230 167321230 single base substitution G A intron_variant MELA-AU 3 167321280 167321280 single base substitution G A intron_variant MELA-AU 3 167321322 167321322 single base substitution C T intron_variant MELA-AU 3 167321365 167321365 single base substitution C T intron_variant MELA-AU 3 167321487 167321487 single base substitution A T intron_variant MELA-AU 3 167321606 167321606 single base substitution C T intron_variant MELA-AU 3 167321613 167321613 single base substitution C T intron_variant MELA-AU 3 167321679 167321679 single base substitution G A intron_variant MELA-AU 3 167321732 167321732 single base substitution G A intron_variant MELA-AU 3 167321809 167321809 single base substitution C T intron_variant MELA-AU 3 167322040 167322040 single base substitution C T intron_variant MELA-AU 3 167322223 167322223 single base substitution G A 3_prime_UTR_variant MELA-AU 3 167322223 167322223 single base substitution G A 5_prime_UTR_variant MELA-AU 3 167322223 167322223 single base substitution G A intron_variant MELA-AU 3 167322223 167322223 single base substitution G A missense_variant S331F 992C>T MELA-AU 3 167322223 167322223 single base substitution G A missense_variant S43F 128C>T MELA-AU 3 167322223 167322223 single base substitution G A missense_variant S54F 161C>T MELA-AU 3 167322432 167322432 single base substitution C T intron_variant MELA-AU 3 167322601 167322601 single base substitution A G intron_variant MELA-AU 3 167322609 167322609 single base substitution G A intron_variant MELA-AU 3 167322645 167322645 single base substitution C T intron_variant MELA-AU 3 167322737 167322737 single base substitution C T intron_variant MELA-AU 3 167322747 167322747 single base substitution G A intron_variant MELA-AU 3 167322977 167322977 single base substitution G A intron_variant MELA-AU 3 167322996 167322996 single base substitution C T intron_variant MELA-AU 3 167323063 167323063 single base substitution C T intron_variant MELA-AU 3 167323110 167323110 single base substitution C T intron_variant MELA-AU 3 167323115 167323115 single base substitution G A intron_variant MELA-AU 3 167323219 167323219 single base substitution C T intron_variant MELA-AU 3 167323318 167323318 single base substitution A T intron_variant MELA-AU 3 167323511 167323511 single base substitution C T intron_variant MELA-AU 3 167323782 167323782 single base substitution G A intron_variant MELA-AU 3 167323827 167323827 single base substitution G A intron_variant MELA-AU 3 167324020 167324020 single base substitution G A intron_variant MELA-AU 3 167324029 167324029 single base substitution G A intron_variant MELA-AU 3 167324053 167324053 single base substitution G A intron_variant MELA-AU 3 167324144 167324144 single base substitution T G intron_variant MELA-AU 3 167324148 167324148 single base substitution G A intron_variant MELA-AU 3 167324332 167324332 single base substitution C A intron_variant MELA-AU 3 167324396 167324396 single base substitution G A intron_variant MELA-AU 3 167324455 167324455 single base substitution C G intron_variant MELA-AU 3 167324547 167324547 single base substitution C T intron_variant MELA-AU 3 167324564 167324564 single base substitution G A intron_variant MELA-AU 3 167324592 167324592 single base substitution C T intron_variant MELA-AU 3 167324598 167324598 single base substitution C T intron_variant MELA-AU 3 167324639 167324639 single base substitution G A intron_variant MELA-AU 3 167324650 167324650 single base substitution G A intron_variant MELA-AU 3 167324667 167324667 single base substitution C T intron_variant MELA-AU 3 167324786 167324786 single base substitution G A intron_variant MELA-AU 3 167324798 167324798 single base substitution G A intron_variant MELA-AU 3 167324813 167324813 single base substitution G A intron_variant MELA-AU 3 167324829 167324829 single base substitution G A intron_variant MELA-AU 3 167324856 167324856 single base substitution G A intron_variant MELA-AU 3 167324892 167324892 single base substitution C T intron_variant MELA-AU 3 167324940 167324940 single base substitution C T intron_variant MELA-AU 3 167324957 167324957 single base substitution T C intron_variant MELA-AU 3 167325004 167325004 single base substitution G A intron_variant MELA-AU 3 167325024 167325024 single base substitution A T intron_variant MELA-AU 3 167325051 167325051 single base substitution G A intron_variant MELA-AU 3 167325065 167325065 single base substitution G A intron_variant MELA-AU 3 167325076 167325076 single base substitution G A intron_variant MELA-AU 3 167325098 167325098 single base substitution A T intron_variant MELA-AU 3 167325157 167325157 single base substitution C T intron_variant MELA-AU 3 167325179 167325179 single base substitution C T intron_variant MELA-AU 3 167325320 167325320 single base substitution C T intron_variant MELA-AU 3 167325328 167325328 single base substitution G A intron_variant MELA-AU 3 167325502 167325502 single base substitution C T intron_variant MELA-AU 3 167325509 167325509 single base substitution C T intron_variant MELA-AU 3 167325528 167325528 single base substitution C T intron_variant MELA-AU 3 167325574 167325574 single base substitution C T intron_variant MELA-AU 3 167325582 167325582 single base substitution G A intron_variant MELA-AU 3 167325611 167325611 single base substitution C T intron_variant MELA-AU 3 167325665 167325665 single base substitution C T intron_variant MELA-AU 3 167325703 167325703 single base substitution G T intron_variant MELA-AU 3 167325716 167325716 single base substitution G A intron_variant MELA-AU 3 167325724 167325724 single base substitution G A intron_variant MELA-AU 3 167325778 167325778 single base substitution G A intron_variant MELA-AU 3 167325852 167325852 single base substitution G A intron_variant MELA-AU 3 167326119 167326119 single base substitution C T intron_variant MELA-AU 3 167326231 167326231 single base substitution G A intron_variant MELA-AU 3 167326463 167326463 single base substitution C T intron_variant MELA-AU 3 167326479 167326479 single base substitution G A intron_variant MELA-AU 3 167326516 167326516 single base substitution C T intron_variant MELA-AU 3 167326525 167326525 single base substitution G A intron_variant MELA-AU 3 167326594 167326594 single base substitution G A intron_variant MELA-AU 3 167326622 167326622 single base substitution A G intron_variant MELA-AU 3 167326630 167326630 single base substitution G A intron_variant MELA-AU 3 167326805 167326805 single base substitution G A intron_variant MELA-AU 3 167326865 167326865 single base substitution G A intron_variant MELA-AU 3 167326914 167326914 single base substitution C T intron_variant MELA-AU 3 167326927 167326927 single base substitution G A intron_variant MELA-AU 3 167326991 167326991 single base substitution G A intron_variant MELA-AU 3 167327033 167327033 single base substitution C T intron_variant MELA-AU 3 167327054 167327054 single base substitution C T intron_variant MELA-AU 3 167327266 167327266 single base substitution G A intron_variant MELA-AU 3 167327281 167327281 single base substitution G A intron_variant MELA-AU 3 167327390 167327390 single base substitution C T intron_variant MELA-AU 3 167327461 167327461 single base substitution G A intron_variant MELA-AU 3 167327509 167327510 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 167327586 167327586 single base substitution G A intron_variant MELA-AU 3 167327653 167327653 single base substitution G A intron_variant MELA-AU 3 167327670 167327670 single base substitution G A intron_variant MELA-AU 3 167327861 167327861 single base substitution G A intron_variant MELA-AU 3 167327999 167327999 single base substitution G A intron_variant MELA-AU 3 167328060 167328060 single base substitution G A intron_variant MELA-AU 3 167328088 167328088 single base substitution G A intron_variant MELA-AU 3 167328168 167328168 single base substitution G A intron_variant MELA-AU 3 167328169 167328169 single base substitution G A intron_variant MELA-AU 3 167328241 167328241 single base substitution C A intron_variant MELA-AU 3 167328267 167328267 single base substitution G A intron_variant MELA-AU 3 167328384 167328384 single base substitution C T intron_variant MELA-AU 3 167328500 167328500 single base substitution G A intron_variant MELA-AU 3 167328753 167328753 single base substitution G A intron_variant MELA-AU 3 167328825 167328825 single base substitution C T intron_variant MELA-AU 3 167328920 167328920 single base substitution G A intron_variant MELA-AU 3 167329077 167329077 single base substitution G A intron_variant MELA-AU 3 167329101 167329101 single base substitution A G intron_variant MELA-AU 3 167329157 167329157 single base substitution C G intron_variant MELA-AU 3 167329162 167329162 single base substitution C T intron_variant MELA-AU 3 167329207 167329207 single base substitution G A intron_variant MELA-AU 3 167329209 167329209 single base substitution G A intron_variant MELA-AU 3 167329213 167329213 single base substitution G A intron_variant MELA-AU 3 167329215 167329215 single base substitution A G intron_variant MELA-AU 3 167329307 167329307 single base substitution C T intron_variant MELA-AU 3 167329329 167329329 single base substitution G A intron_variant MELA-AU 3 167329453 167329453 single base substitution C T intron_variant MELA-AU 3 167329460 167329460 single base substitution G A intron_variant MELA-AU 3 167329500 167329500 single base substitution C T intron_variant MELA-AU 3 167329545 167329545 single base substitution G A intron_variant MELA-AU 3 167329626 167329626 single base substitution G A intron_variant MELA-AU 3 167329649 167329649 single base substitution A C intron_variant MELA-AU 3 167329664 167329664 single base substitution G A intron_variant MELA-AU 3 167329747 167329747 single base substitution T C intron_variant MELA-AU 3 167329774 167329775 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 167329786 167329786 single base substitution T A intron_variant MELA-AU 3 167329854 167329854 single base substitution G A intron_variant MELA-AU 3 167329884 167329884 single base substitution T A intron_variant MELA-AU 3 167329905 167329905 single base substitution G A intron_variant MELA-AU 3 167329993 167329993 single base substitution G A intron_variant MELA-AU 3 167330054 167330054 single base substitution G A intron_variant MELA-AU 3 167330189 167330189 single base substitution C T intron_variant MELA-AU 3 167330221 167330221 single base substitution G A intron_variant MELA-AU 3 167330310 167330310 single base substitution A T intron_variant MELA-AU 3 167330892 167330892 single base substitution C T intron_variant MELA-AU 3 167331014 167331014 single base substitution A C intron_variant MELA-AU 3 167331030 167331030 single base substitution C T intron_variant MELA-AU 3 167331043 167331043 single base substitution A G intron_variant MELA-AU 3 167331174 167331174 single base substitution G A intron_variant MELA-AU 3 167331180 167331180 single base substitution G C intron_variant MELA-AU 3 167331480 167331480 single base substitution C T intron_variant MELA-AU 3 167331564 167331564 single base substitution C T intron_variant MELA-AU 3 167331613 167331613 single base substitution A G intron_variant MELA-AU 3 167331627 167331627 single base substitution G A intron_variant MELA-AU 3 167331752 167331752 single base substitution G A intron_variant MELA-AU 3 167331979 167331979 single base substitution T C intron_variant MELA-AU 3 167331980 167331980 single base substitution C T intron_variant MELA-AU 3 167332122 167332122 single base substitution G A intron_variant MELA-AU 3 167332219 167332219 single base substitution C T intron_variant MELA-AU 3 167332268 167332268 single base substitution G A intron_variant MELA-AU 3 167332497 167332497 single base substitution G A intron_variant MELA-AU 3 167332504 167332504 single base substitution C T intron_variant MELA-AU 3 167332593 167332593 single base substitution C T intron_variant MELA-AU 3 167332648 167332648 single base substitution A C intron_variant MELA-AU 3 167332735 167332735 single base substitution G A intron_variant MELA-AU 3 167332762 167332762 single base substitution C T intron_variant MELA-AU 3 167332827 167332827 single base substitution C T intron_variant MELA-AU 3 167332845 167332845 single base substitution G A intron_variant MELA-AU 3 167332986 167332986 single base substitution G A intron_variant MELA-AU 3 167333029 167333029 single base substitution C T intron_variant MELA-AU 3 167333033 167333033 single base substitution C T intron_variant MELA-AU 3 167333051 167333051 single base substitution G A intron_variant MELA-AU 3 167333110 167333110 single base substitution G A intron_variant MELA-AU 3 167333217 167333217 single base substitution C T intron_variant MELA-AU 3 167333227 167333227 single base substitution C T intron_variant MELA-AU 3 167333247 167333247 single base substitution A G intron_variant MELA-AU 3 167333278 167333278 single base substitution C T intron_variant MELA-AU 3 167333430 167333430 single base substitution G A intron_variant MELA-AU 3 167333460 167333460 single base substitution C T intron_variant MELA-AU 3 167333618 167333618 single base substitution G A intron_variant MELA-AU 3 167333712 167333712 single base substitution G A intron_variant MELA-AU 3 167333765 167333765 single base substitution G A intron_variant MELA-AU 3 167333924 167333924 deletion of <=200bp T - intron_variant MELA-AU 3 167333952 167333952 single base substitution C A intron_variant MELA-AU 3 167334070 167334070 single base substitution G A intron_variant MELA-AU 3 167334261 167334261 single base substitution A T downstream_gene_variant MELA-AU 3 167334261 167334261 single base substitution A T intron_variant MELA-AU 3 167334310 167334310 single base substitution A G downstream_gene_variant MELA-AU 3 167334310 167334310 single base substitution A G intron_variant MELA-AU 3 167334421 167334421 single base substitution G A downstream_gene_variant MELA-AU 3 167334421 167334421 single base substitution G A intron_variant MELA-AU 3 167334455 167334455 single base substitution A G downstream_gene_variant MELA-AU 3 167334455 167334455 single base substitution A G intron_variant MELA-AU 3 167334475 167334475 single base substitution C T downstream_gene_variant MELA-AU 3 167334475 167334475 single base substitution C T intron_variant MELA-AU 3 167334511 167334511 single base substitution G A downstream_gene_variant MELA-AU 3 167334511 167334511 single base substitution G A intron_variant MELA-AU 3 167334514 167334514 single base substitution T C downstream_gene_variant MELA-AU 3 167334514 167334514 single base substitution T C intron_variant MELA-AU 3 167334578 167334578 single base substitution G A downstream_gene_variant MELA-AU 3 167334578 167334578 single base substitution G A intron_variant MELA-AU 3 167334734 167334734 single base substitution C T downstream_gene_variant MELA-AU 3 167334734 167334734 single base substitution C T intron_variant MELA-AU 3 167334754 167334754 single base substitution C T downstream_gene_variant MELA-AU 3 167334754 167334754 single base substitution C T intron_variant MELA-AU 3 167334776 167334776 single base substitution G A downstream_gene_variant MELA-AU 3 167334776 167334776 single base substitution G A intron_variant MELA-AU 3 167334826 167334826 single base substitution C T downstream_gene_variant MELA-AU 3 167334826 167334826 single base substitution C T intron_variant MELA-AU 3 167334920 167334920 single base substitution C T downstream_gene_variant MELA-AU 3 167334920 167334920 single base substitution C T intron_variant MELA-AU 3 167334974 167334974 single base substitution T G downstream_gene_variant MELA-AU 3 167334974 167334974 single base substitution T G intron_variant MELA-AU 3 167334999 167334999 single base substitution G A downstream_gene_variant MELA-AU 3 167334999 167334999 single base substitution G A intron_variant MELA-AU 3 167335118 167335118 single base substitution C A downstream_gene_variant MELA-AU 3 167335118 167335118 single base substitution C A intron_variant MELA-AU 3 167335198 167335198 single base substitution C T downstream_gene_variant MELA-AU 3 167335198 167335198 single base substitution C T intron_variant MELA-AU 3 167335229 167335229 single base substitution C T downstream_gene_variant MELA-AU 3 167335229 167335229 single base substitution C T intron_variant MELA-AU 3 167335243 167335244 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 167335243 167335244 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 167335268 167335268 single base substitution C T downstream_gene_variant MELA-AU 3 167335268 167335268 single base substitution C T intron_variant MELA-AU 3 167335483 167335483 single base substitution A G downstream_gene_variant MELA-AU 3 167335483 167335483 single base substitution A G intron_variant MELA-AU 3 167335487 167335487 single base substitution A T downstream_gene_variant MELA-AU 3 167335487 167335487 single base substitution A T intron_variant MELA-AU 3 167335564 167335564 single base substitution C T downstream_gene_variant MELA-AU 3 167335564 167335564 single base substitution C T intron_variant MELA-AU 3 167335762 167335762 single base substitution C T downstream_gene_variant MELA-AU 3 167335762 167335762 single base substitution C T intron_variant MELA-AU 3 167335861 167335861 single base substitution C T downstream_gene_variant MELA-AU 3 167335861 167335861 single base substitution C T intron_variant MELA-AU 3 167335934 167335934 single base substitution C T downstream_gene_variant MELA-AU 3 167335934 167335934 single base substitution C T intron_variant MELA-AU 3 167336006 167336006 single base substitution G A downstream_gene_variant MELA-AU 3 167336006 167336006 single base substitution G A intron_variant MELA-AU 3 167336161 167336161 single base substitution C T downstream_gene_variant MELA-AU 3 167336161 167336161 single base substitution C T intron_variant MELA-AU 3 167336197 167336197 single base substitution A G downstream_gene_variant MELA-AU 3 167336197 167336197 single base substitution A G intron_variant MELA-AU 3 167336309 167336309 single base substitution G A downstream_gene_variant MELA-AU 3 167336309 167336309 single base substitution G A intron_variant MELA-AU 3 167336346 167336346 single base substitution G A downstream_gene_variant MELA-AU 3 167336346 167336346 single base substitution G A intron_variant MELA-AU 3 167336705 167336705 single base substitution G A downstream_gene_variant MELA-AU 3 167336705 167336705 single base substitution G A intron_variant MELA-AU 3 167336728 167336728 single base substitution A T downstream_gene_variant MELA-AU 3 167336728 167336728 single base substitution A T intron_variant MELA-AU 3 167336805 167336805 single base substitution C T downstream_gene_variant MELA-AU 3 167336805 167336805 single base substitution C T intron_variant MELA-AU 3 167336853 167336853 single base substitution C T downstream_gene_variant MELA-AU 3 167336853 167336853 single base substitution C T intron_variant MELA-AU 3 167336941 167336941 single base substitution G A downstream_gene_variant MELA-AU 3 167336941 167336941 single base substitution G A intron_variant MELA-AU 3 167337038 167337038 single base substitution A T downstream_gene_variant MELA-AU 3 167337038 167337038 single base substitution A T intron_variant MELA-AU 3 167337077 167337077 single base substitution C T downstream_gene_variant MELA-AU 3 167337077 167337077 single base substitution C T intron_variant MELA-AU 3 167337192 167337192 single base substitution C T downstream_gene_variant MELA-AU 3 167337192 167337192 single base substitution C T intron_variant MELA-AU 3 167337288 167337288 single base substitution C T downstream_gene_variant MELA-AU 3 167337288 167337288 single base substitution C T intron_variant MELA-AU 3 167337339 167337339 single base substitution C T downstream_gene_variant MELA-AU 3 167337339 167337339 single base substitution C T intron_variant MELA-AU 3 167337456 167337456 single base substitution C T downstream_gene_variant MELA-AU 3 167337456 167337456 single base substitution C T intron_variant MELA-AU 3 167337634 167337634 single base substitution C T downstream_gene_variant MELA-AU 3 167337634 167337634 single base substitution C T intron_variant MELA-AU 3 167337836 167337836 single base substitution G A downstream_gene_variant MELA-AU 3 167337836 167337836 single base substitution G A intron_variant MELA-AU 3 167337860 167337860 single base substitution G A downstream_gene_variant MELA-AU 3 167337860 167337860 single base substitution G A intron_variant MELA-AU 3 167337887 167337887 single base substitution G A downstream_gene_variant MELA-AU 3 167337887 167337887 single base substitution G A intron_variant MELA-AU 3 167337943 167337943 single base substitution G A downstream_gene_variant MELA-AU 3 167337943 167337943 single base substitution G A intron_variant MELA-AU 3 167337963 167337963 single base substitution C T downstream_gene_variant MELA-AU 3 167337963 167337963 single base substitution C T intron_variant MELA-AU 3 167338056 167338056 single base substitution C T downstream_gene_variant MELA-AU 3 167338056 167338056 single base substitution C T intron_variant MELA-AU 3 167338072 167338072 single base substitution G A downstream_gene_variant MELA-AU 3 167338072 167338072 single base substitution G A intron_variant MELA-AU 3 167338106 167338106 single base substitution C T downstream_gene_variant MELA-AU 3 167338106 167338106 single base substitution C T intron_variant MELA-AU 3 167338357 167338357 single base substitution G A downstream_gene_variant MELA-AU 3 167338357 167338357 single base substitution G A intron_variant MELA-AU 3 167338357 167338357 single base substitution G A missense_variant S273F 818C>T MELA-AU 3 167338357 167338357 single base substitution G A upstream_gene_variant MELA-AU 3 167338430 167338430 single base substitution G A downstream_gene_variant MELA-AU 3 167338430 167338430 single base substitution G A intron_variant MELA-AU 3 167338430 167338430 single base substitution G A upstream_gene_variant MELA-AU 3 167338475 167338475 single base substitution A T downstream_gene_variant MELA-AU 3 167338475 167338475 single base substitution A T intron_variant MELA-AU 3 167338475 167338475 single base substitution A T upstream_gene_variant MELA-AU 3 167338579 167338579 single base substitution G A downstream_gene_variant MELA-AU 3 167338579 167338579 single base substitution G A intron_variant MELA-AU 3 167338579 167338579 single base substitution G A upstream_gene_variant MELA-AU 3 167338603 167338603 single base substitution G A downstream_gene_variant MELA-AU 3 167338603 167338603 single base substitution G A intron_variant MELA-AU 3 167338603 167338603 single base substitution G A upstream_gene_variant MELA-AU 3 167338655 167338655 single base substitution G A downstream_gene_variant MELA-AU 3 167338655 167338655 single base substitution G A intron_variant MELA-AU 3 167338655 167338655 single base substitution G A upstream_gene_variant MELA-AU 3 167338656 167338656 single base substitution G A downstream_gene_variant MELA-AU 3 167338656 167338656 single base substitution G A intron_variant MELA-AU 3 167338656 167338656 single base substitution G A upstream_gene_variant MELA-AU 3 167338844 167338844 single base substitution G A downstream_gene_variant MELA-AU 3 167338844 167338844 single base substitution G A intron_variant MELA-AU 3 167338844 167338844 single base substitution G A upstream_gene_variant MELA-AU 3 167338875 167338875 single base substitution G C downstream_gene_variant MELA-AU 3 167338875 167338875 single base substitution G C intron_variant MELA-AU 3 167338875 167338875 single base substitution G C upstream_gene_variant MELA-AU 3 167338915 167338915 single base substitution G A downstream_gene_variant MELA-AU 3 167338915 167338915 single base substitution G A intron_variant MELA-AU 3 167338915 167338915 single base substitution G A upstream_gene_variant MELA-AU 3 167338949 167338949 single base substitution C T downstream_gene_variant MELA-AU 3 167338949 167338949 single base substitution C T intron_variant MELA-AU 3 167338949 167338949 single base substitution C T upstream_gene_variant MELA-AU 3 167338957 167338957 single base substitution G A downstream_gene_variant MELA-AU 3 167338957 167338957 single base substitution G A intron_variant MELA-AU 3 167338957 167338957 single base substitution G A upstream_gene_variant MELA-AU 3 167338977 167338977 single base substitution C T downstream_gene_variant MELA-AU 3 167338977 167338977 single base substitution C T intron_variant MELA-AU 3 167338977 167338977 single base substitution C T upstream_gene_variant MELA-AU 3 167339048 167339048 single base substitution C A downstream_gene_variant MELA-AU 3 167339048 167339048 single base substitution C A intron_variant MELA-AU 3 167339048 167339048 single base substitution C A upstream_gene_variant MELA-AU 3 167339119 167339119 single base substitution C T downstream_gene_variant MELA-AU 3 167339119 167339119 single base substitution C T intron_variant MELA-AU 3 167339119 167339119 single base substitution C T upstream_gene_variant MELA-AU 3 167339466 167339466 single base substitution C T intron_variant MELA-AU 3 167339466 167339466 single base substitution C T upstream_gene_variant MELA-AU 3 167339593 167339593 single base substitution C T intron_variant MELA-AU 3 167339593 167339593 single base substitution C T upstream_gene_variant MELA-AU 3 167339615 167339615 single base substitution G A intron_variant MELA-AU 3 167339615 167339615 single base substitution G A upstream_gene_variant MELA-AU 3 167339658 167339658 single base substitution C T intron_variant MELA-AU 3 167339658 167339658 single base substitution C T upstream_gene_variant MELA-AU 3 167339670 167339670 single base substitution C T intron_variant MELA-AU 3 167339670 167339670 single base substitution C T upstream_gene_variant MELA-AU 3 167339760 167339760 single base substitution C T intron_variant MELA-AU 3 167339760 167339760 single base substitution C T upstream_gene_variant MELA-AU 3 167339981 167339981 single base substitution T A downstream_gene_variant MELA-AU 3 167339981 167339981 single base substitution T A intron_variant MELA-AU 3 167339981 167339981 single base substitution T A upstream_gene_variant MELA-AU 3 167340008 167340008 single base substitution G A downstream_gene_variant MELA-AU 3 167340008 167340008 single base substitution G A intron_variant MELA-AU 3 167340008 167340008 single base substitution G A upstream_gene_variant MELA-AU 3 167340136 167340136 single base substitution G A downstream_gene_variant MELA-AU 3 167340136 167340136 single base substitution G A intron_variant MELA-AU 3 167340136 167340136 single base substitution G A upstream_gene_variant MELA-AU 3 167340312 167340312 single base substitution G A downstream_gene_variant MELA-AU 3 167340312 167340312 single base substitution G A intron_variant MELA-AU 3 167340312 167340312 single base substitution G A upstream_gene_variant MELA-AU 3 167340478 167340478 single base substitution G A downstream_gene_variant MELA-AU 3 167340478 167340478 single base substitution G A intron_variant MELA-AU 3 167340478 167340478 single base substitution G A upstream_gene_variant MELA-AU 3 167340591 167340591 single base substitution G A downstream_gene_variant MELA-AU 3 167340591 167340591 single base substitution G A intron_variant MELA-AU 3 167340591 167340591 single base substitution G A upstream_gene_variant MELA-AU 3 167340691 167340691 single base substitution C T downstream_gene_variant MELA-AU 3 167340691 167340691 single base substitution C T intron_variant MELA-AU 3 167340691 167340691 single base substitution C T upstream_gene_variant MELA-AU 3 167340714 167340714 single base substitution G A downstream_gene_variant MELA-AU 3 167340714 167340714 single base substitution G A intron_variant MELA-AU 3 167340714 167340714 single base substitution G A upstream_gene_variant MELA-AU 3 167340849 167340849 single base substitution G A downstream_gene_variant MELA-AU 3 167340849 167340849 single base substitution G A intron_variant MELA-AU 3 167340849 167340849 single base substitution G A upstream_gene_variant MELA-AU 3 167340855 167340855 single base substitution C T downstream_gene_variant MELA-AU 3 167340855 167340855 single base substitution C T intron_variant MELA-AU 3 167340855 167340855 single base substitution C T upstream_gene_variant MELA-AU 3 167340876 167340876 single base substitution G A downstream_gene_variant MELA-AU 3 167340876 167340876 single base substitution G A intron_variant MELA-AU 3 167340876 167340876 single base substitution G A upstream_gene_variant MELA-AU 3 167340901 167340901 single base substitution G A downstream_gene_variant MELA-AU 3 167340901 167340901 single base substitution G A intron_variant MELA-AU 3 167340901 167340901 single base substitution G A upstream_gene_variant MELA-AU 3 167340959 167340959 single base substitution C T downstream_gene_variant MELA-AU 3 167340959 167340959 single base substitution C T intron_variant MELA-AU 3 167340959 167340959 single base substitution C T upstream_gene_variant MELA-AU 3 167340997 167340997 single base substitution G A downstream_gene_variant MELA-AU 3 167340997 167340997 single base substitution G A intron_variant MELA-AU 3 167340997 167340997 single base substitution G A upstream_gene_variant MELA-AU 3 167341114 167341114 single base substitution A T downstream_gene_variant MELA-AU 3 167341114 167341114 single base substitution A T intron_variant MELA-AU 3 167341114 167341114 single base substitution A T upstream_gene_variant MELA-AU 3 167341182 167341182 single base substitution C T downstream_gene_variant MELA-AU 3 167341182 167341182 single base substitution C T intron_variant MELA-AU 3 167341182 167341182 single base substitution C T upstream_gene_variant MELA-AU 3 167341251 167341251 single base substitution A G downstream_gene_variant MELA-AU 3 167341251 167341251 single base substitution A G intron_variant MELA-AU 3 167341251 167341251 single base substitution A G upstream_gene_variant MELA-AU 3 167341308 167341308 single base substitution G A downstream_gene_variant MELA-AU 3 167341308 167341308 single base substitution G A intron_variant MELA-AU 3 167341308 167341308 single base substitution G A upstream_gene_variant MELA-AU 3 167341327 167341327 single base substitution C T downstream_gene_variant MELA-AU 3 167341327 167341327 single base substitution C T intron_variant MELA-AU 3 167341327 167341327 single base substitution C T upstream_gene_variant MELA-AU 3 167341470 167341470 single base substitution G A downstream_gene_variant MELA-AU 3 167341470 167341470 single base substitution G A intron_variant MELA-AU 3 167341470 167341470 single base substitution G A upstream_gene_variant MELA-AU 3 167341593 167341593 single base substitution G A downstream_gene_variant MELA-AU 3 167341593 167341593 single base substitution G A intron_variant MELA-AU 3 167341593 167341593 single base substitution G A upstream_gene_variant MELA-AU 3 167341630 167341630 single base substitution C A downstream_gene_variant MELA-AU 3 167341630 167341630 single base substitution C A intron_variant MELA-AU 3 167341630 167341630 single base substitution C A upstream_gene_variant MELA-AU 3 167341640 167341640 single base substitution C T downstream_gene_variant MELA-AU 3 167341640 167341640 single base substitution C T intron_variant MELA-AU 3 167341640 167341640 single base substitution C T upstream_gene_variant MELA-AU 3 167341699 167341699 single base substitution A G downstream_gene_variant MELA-AU 3 167341699 167341699 single base substitution A G intron_variant MELA-AU 3 167341699 167341699 single base substitution A G upstream_gene_variant MELA-AU 3 167341817 167341817 single base substitution G A downstream_gene_variant MELA-AU 3 167341817 167341817 single base substitution G A intron_variant MELA-AU 3 167341817 167341817 single base substitution G A upstream_gene_variant MELA-AU 3 167341838 167341838 single base substitution C T downstream_gene_variant MELA-AU 3 167341838 167341838 single base substitution C T intron_variant MELA-AU 3 167341838 167341838 single base substitution C T upstream_gene_variant MELA-AU 3 167342021 167342021 single base substitution C T downstream_gene_variant MELA-AU 3 167342021 167342021 single base substitution C T intron_variant MELA-AU 3 167342021 167342021 single base substitution C T upstream_gene_variant MELA-AU 3 167342122 167342122 single base substitution T C downstream_gene_variant MELA-AU 3 167342122 167342122 single base substitution T C intron_variant MELA-AU 3 167342122 167342122 single base substitution T C upstream_gene_variant MELA-AU 3 167342249 167342249 single base substitution A G downstream_gene_variant MELA-AU 3 167342249 167342249 single base substitution A G intron_variant MELA-AU 3 167342249 167342249 single base substitution A G upstream_gene_variant MELA-AU 3 167342262 167342262 single base substitution G T downstream_gene_variant MELA-AU 3 167342262 167342262 single base substitution G T intron_variant MELA-AU 3 167342262 167342262 single base substitution G T upstream_gene_variant MELA-AU 3 167342265 167342265 single base substitution G A downstream_gene_variant MELA-AU 3 167342265 167342265 single base substitution G A intron_variant MELA-AU 3 167342265 167342265 single base substitution G A upstream_gene_variant MELA-AU 3 167342516 167342516 single base substitution G A downstream_gene_variant MELA-AU 3 167342516 167342516 single base substitution G A intron_variant MELA-AU 3 167342516 167342516 single base substitution G A upstream_gene_variant MELA-AU 3 167342746 167342746 single base substitution G A downstream_gene_variant MELA-AU 3 167342746 167342746 single base substitution G A intron_variant MELA-AU 3 167342746 167342746 single base substitution G A upstream_gene_variant MELA-AU 3 167342774 167342774 single base substitution T C downstream_gene_variant MELA-AU 3 167342774 167342774 single base substitution T C intron_variant MELA-AU 3 167342774 167342774 single base substitution T C upstream_gene_variant MELA-AU 3 167342952 167342952 single base substitution G A downstream_gene_variant MELA-AU 3 167342952 167342952 single base substitution G A intron_variant MELA-AU 3 167342952 167342952 single base substitution G A upstream_gene_variant MELA-AU 3 167343019 167343019 single base substitution G A downstream_gene_variant MELA-AU 3 167343019 167343019 single base substitution G A intron_variant MELA-AU 3 167343019 167343019 single base substitution G A upstream_gene_variant MELA-AU 3 167343365 167343365 single base substitution G A downstream_gene_variant MELA-AU 3 167343365 167343365 single base substitution G A intron_variant MELA-AU 3 167343372 167343372 single base substitution G A downstream_gene_variant MELA-AU 3 167343372 167343372 single base substitution G A intron_variant MELA-AU 3 167343380 167343380 single base substitution G A downstream_gene_variant MELA-AU 3 167343380 167343380 single base substitution G A intron_variant MELA-AU 3 167343393 167343393 single base substitution C T downstream_gene_variant MELA-AU 3 167343393 167343393 single base substitution C T intron_variant MELA-AU 3 167343458 167343458 single base substitution G A downstream_gene_variant MELA-AU 3 167343458 167343458 single base substitution G A intron_variant MELA-AU 3 167343524 167343524 single base substitution A G downstream_gene_variant MELA-AU 3 167343524 167343524 single base substitution A G intron_variant MELA-AU 3 167343571 167343571 single base substitution C T downstream_gene_variant MELA-AU 3 167343571 167343571 single base substitution C T intron_variant MELA-AU 3 167343700 167343700 single base substitution G A downstream_gene_variant MELA-AU 3 167343700 167343700 single base substitution G A intron_variant MELA-AU 3 167343741 167343741 single base substitution A T downstream_gene_variant MELA-AU 3 167343741 167343741 single base substitution A T intron_variant MELA-AU 3 167343804 167343804 single base substitution C T downstream_gene_variant MELA-AU 3 167343804 167343804 single base substitution C T intron_variant MELA-AU 3 167344006 167344006 single base substitution G A downstream_gene_variant MELA-AU 3 167344006 167344006 single base substitution G A intron_variant MELA-AU 3 167344073 167344073 single base substitution C A downstream_gene_variant MELA-AU 3 167344073 167344073 single base substitution C A intron_variant MELA-AU 3 167344299 167344300 multiple base substitution (>=2bp and <=200bp) AA GG downstream_gene_variant MELA-AU 3 167344299 167344300 multiple base substitution (>=2bp and <=200bp) AA GG intron_variant MELA-AU 3 167344365 167344365 single base substitution G A downstream_gene_variant MELA-AU 3 167344365 167344365 single base substitution G A intron_variant MELA-AU 3 167344597 167344597 single base substitution C T downstream_gene_variant MELA-AU 3 167344597 167344597 single base substitution C T intron_variant MELA-AU 3 167344844 167344844 single base substitution G A downstream_gene_variant MELA-AU 3 167344844 167344844 single base substitution G A intron_variant MELA-AU 3 167344844 167344844 single base substitution G A synonymous_variant F134F 402C>T MELA-AU 3 167345000 167345000 single base substitution C T exon_variant MELA-AU 3 167345000 167345000 single base substitution C T intron_variant MELA-AU 3 167345000 167345000 single base substitution C T synonymous_variant T82T 246G>A MELA-AU 3 167345060 167345060 single base substitution G A exon_variant MELA-AU 3 167345060 167345060 single base substitution G A intron_variant MELA-AU 3 167345060 167345060 single base substitution G A synonymous_variant I62I 186C>T MELA-AU 3 167345066 167345066 single base substitution C T exon_variant MELA-AU 3 167345066 167345066 single base substitution C T intron_variant MELA-AU 3 167345066 167345066 single base substitution C T synonymous_variant R60R 180G>A MELA-AU 3 167345120 167345120 single base substitution G A intron_variant MELA-AU 3 167345123 167345123 single base substitution A T intron_variant MELA-AU 3 167345289 167345289 single base substitution C T intron_variant MELA-AU 3 167345312 167345312 single base substitution C T intron_variant MELA-AU 3 167345379 167345379 single base substitution G A intron_variant MELA-AU 3 167345450 167345450 single base substitution G A intron_variant MELA-AU 3 167345703 167345703 single base substitution T C intron_variant MELA-AU 3 167345704 167345704 single base substitution C T intron_variant MELA-AU 3 167345713 167345713 single base substitution C T intron_variant MELA-AU 3 167345779 167345779 single base substitution T A intron_variant MELA-AU 3 167345814 167345814 single base substitution C T intron_variant MELA-AU 3 167345858 167345858 single base substitution A G intron_variant MELA-AU 3 167345952 167345952 single base substitution C T intron_variant MELA-AU 3 167345989 167345989 single base substitution G A intron_variant MELA-AU 3 167346140 167346140 single base substitution C T intron_variant MELA-AU 3 167346153 167346153 single base substitution G A intron_variant MELA-AU 3 167346188 167346188 single base substitution G A intron_variant MELA-AU 3 167346201 167346201 single base substitution C T intron_variant MELA-AU 3 167346223 167346223 single base substitution G A intron_variant MELA-AU 3 167346375 167346375 single base substitution C T intron_variant MELA-AU 3 167346384 167346384 single base substitution G A intron_variant MELA-AU 3 167346413 167346413 single base substitution C T intron_variant MELA-AU 3 167346459 167346459 single base substitution A G intron_variant MELA-AU 3 167346584 167346584 single base substitution G A intron_variant MELA-AU 3 167346608 167346608 single base substitution C T intron_variant MELA-AU 3 167346679 167346679 single base substitution G A intron_variant MELA-AU 3 167346700 167346700 single base substitution C T intron_variant MELA-AU 3 167346897 167346897 single base substitution G A intron_variant MELA-AU 3 167346963 167346963 single base substitution C T intron_variant MELA-AU 3 167347032 167347032 single base substitution C T intron_variant MELA-AU 3 167347054 167347054 single base substitution G A intron_variant MELA-AU 3 167347122 167347122 single base substitution G A intron_variant MELA-AU 3 167347248 167347248 single base substitution G A intron_variant MELA-AU 3 167347418 167347418 single base substitution C T intron_variant MELA-AU 3 167347429 167347429 single base substitution G A intron_variant MELA-AU 3 167347465 167347465 single base substitution G A intron_variant MELA-AU 3 167347520 167347520 single base substitution G A intron_variant MELA-AU 3 167347574 167347574 single base substitution G A intron_variant MELA-AU 3 167347665 167347665 single base substitution G A intron_variant MELA-AU 3 167347688 167347688 single base substitution G A intron_variant MELA-AU 3 167347740 167347740 single base substitution C T intron_variant MELA-AU 3 167347995 167347995 single base substitution A G intron_variant MELA-AU 3 167348066 167348066 single base substitution C T intron_variant MELA-AU 3 167348140 167348140 single base substitution A T intron_variant MELA-AU 3 167348268 167348268 single base substitution G A intron_variant MELA-AU 3 167348462 167348462 single base substitution C T intron_variant MELA-AU 3 167348486 167348486 single base substitution C G intron_variant MELA-AU 3 167348525 167348525 single base substitution C T intron_variant MELA-AU 3 167348687 167348687 single base substitution G A intron_variant MELA-AU 3 167348742 167348742 single base substitution G A intron_variant MELA-AU 3 167348792 167348792 single base substitution G A intron_variant MELA-AU 3 167349105 167349105 single base substitution A T intron_variant MELA-AU 3 167349267 167349267 single base substitution G A intron_variant MELA-AU 3 167349446 167349446 single base substitution G A intron_variant MELA-AU 3 167349530 167349530 single base substitution C T intron_variant MELA-AU 3 167349574 167349574 single base substitution C T intron_variant MELA-AU 3 167349946 167349946 single base substitution C T intron_variant MELA-AU 3 167349955 167349955 single base substitution A G intron_variant MELA-AU 3 167350117 167350117 single base substitution T A intron_variant MELA-AU 3 167350242 167350242 single base substitution G A intron_variant MELA-AU 3 167350335 167350335 single base substitution C T intron_variant MELA-AU 3 167350705 167350705 single base substitution G T intron_variant MELA-AU 3 167350706 167350706 single base substitution G A intron_variant MELA-AU 3 167350723 167350724 multiple base substitution (>=2bp and <=200bp) AT TG intron_variant MELA-AU 3 167350948 167350948 single base substitution C T intron_variant MELA-AU 3 167351000 167351000 single base substitution G A intron_variant MELA-AU 3 167351256 167351256 single base substitution A G exon_variant MELA-AU 3 167351256 167351256 single base substitution A G intron_variant MELA-AU 3 167351259 167351259 single base substitution C T exon_variant MELA-AU 3 167351259 167351259 single base substitution C T intron_variant MELA-AU 3 167351267 167351267 single base substitution C T exon_variant MELA-AU 3 167351267 167351267 single base substitution C T intron_variant MELA-AU 3 167351452 167351452 single base substitution G A intron_variant MELA-AU 3 167351482 167351482 single base substitution G A intron_variant MELA-AU 3 167351749 167351749 single base substitution G A intron_variant MELA-AU 3 167351765 167351765 single base substitution C T intron_variant MELA-AU 3 167351767 167351767 single base substitution G A intron_variant MELA-AU 3 167351924 167351924 single base substitution A G intron_variant MELA-AU 3 167351946 167351946 single base substitution C T intron_variant MELA-AU 3 167352097 167352097 single base substitution T C intron_variant MELA-AU 3 167352256 167352256 single base substitution C T intron_variant MELA-AU 3 167352266 167352266 single base substitution T A intron_variant MELA-AU 3 167352301 167352301 single base substitution C T intron_variant MELA-AU 3 167352346 167352346 single base substitution G A intron_variant MELA-AU 3 167352479 167352479 single base substitution C A intron_variant MELA-AU 3 167352563 167352563 single base substitution A C intron_variant MELA-AU 3 167352778 167352778 single base substitution T C intron_variant MELA-AU 3 167352878 167352879 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 167352964 167352964 single base substitution C T intron_variant MELA-AU 3 167352977 167352977 single base substitution C T intron_variant MELA-AU 3 167353123 167353123 single base substitution A T intron_variant MELA-AU 3 167353216 167353216 single base substitution G A intron_variant MELA-AU 3 167353443 167353443 single base substitution C T intron_variant MELA-AU 3 167353478 167353478 single base substitution C T intron_variant MELA-AU 3 167353572 167353572 single base substitution G A intron_variant MELA-AU 3 167353781 167353781 single base substitution G A intron_variant MELA-AU 3 167353831 167353831 single base substitution G A intron_variant MELA-AU 3 167353900 167353900 single base substitution C T intron_variant MELA-AU 3 167353917 167353917 single base substitution C T intron_variant MELA-AU 3 167353999 167353999 single base substitution G A intron_variant MELA-AU 3 167354030 167354030 single base substitution A C intron_variant MELA-AU 3 167354083 167354083 single base substitution C T intron_variant MELA-AU 3 167354087 167354087 single base substitution C T intron_variant MELA-AU 3 167354189 167354189 single base substitution G A intron_variant MELA-AU 3 167354223 167354223 single base substitution C T intron_variant MELA-AU 3 167354340 167354340 single base substitution C T intron_variant MELA-AU 3 167354421 167354421 single base substitution C T intron_variant MELA-AU 3 167354453 167354453 single base substitution G A intron_variant MELA-AU 3 167354714 167354714 single base substitution C T intron_variant MELA-AU 3 167354715 167354715 single base substitution C T intron_variant MELA-AU 3 167354840 167354840 single base substitution C T intron_variant MELA-AU 3 167354843 167354843 single base substitution G A intron_variant MELA-AU 3 167354859 167354859 single base substitution C T intron_variant MELA-AU 3 167355010 167355010 single base substitution T A intron_variant MELA-AU 3 167355048 167355048 single base substitution C T intron_variant MELA-AU 3 167355077 167355077 single base substitution G A intron_variant MELA-AU 3 167355225 167355225 single base substitution G A intron_variant MELA-AU 3 167355303 167355303 single base substitution C T intron_variant MELA-AU 3 167355369 167355369 single base substitution G A intron_variant MELA-AU 3 167355411 167355411 single base substitution G A intron_variant MELA-AU 3 167355577 167355577 single base substitution G A intron_variant MELA-AU 3 167355590 167355590 single base substitution G A intron_variant MELA-AU 3 167355635 167355635 single base substitution G A intron_variant MELA-AU 3 167355646 167355646 single base substitution G A intron_variant MELA-AU 3 167355658 167355658 single base substitution C T intron_variant MELA-AU 3 167355667 167355667 single base substitution G A intron_variant MELA-AU 3 167355926 167355926 single base substitution A G intron_variant MELA-AU 3 167356046 167356046 single base substitution G A intron_variant MELA-AU 3 167356214 167356214 single base substitution C T intron_variant MELA-AU 3 167356290 167356290 single base substitution C T intron_variant MELA-AU 3 167356291 167356291 single base substitution C T intron_variant MELA-AU 3 167356360 167356360 single base substitution T C intron_variant MELA-AU 3 167356392 167356392 single base substitution C G intron_variant MELA-AU 3 167356472 167356472 single base substitution G A intron_variant MELA-AU 3 167356690 167356690 single base substitution C T intron_variant MELA-AU 3 167356756 167356756 single base substitution C T intron_variant MELA-AU 3 167356824 167356824 single base substitution G A intron_variant MELA-AU 3 167356847 167356847 single base substitution C T intron_variant MELA-AU 3 167356863 167356863 single base substitution T C intron_variant MELA-AU 3 167356903 167356903 single base substitution G A intron_variant MELA-AU 3 167357015 167357015 single base substitution C T intron_variant MELA-AU 3 167357016 167357016 single base substitution C T intron_variant MELA-AU 3 167357167 167357167 single base substitution G A intron_variant MELA-AU 3 167357316 167357316 single base substitution G A intron_variant MELA-AU 3 167357482 167357482 single base substitution C T intron_variant MELA-AU 3 167357530 167357530 single base substitution C T intron_variant MELA-AU 3 167357680 167357680 single base substitution G A intron_variant MELA-AU 3 167357694 167357694 single base substitution G A intron_variant MELA-AU 3 167357717 167357717 single base substitution G A intron_variant MELA-AU 3 167357804 167357804 single base substitution C T intron_variant MELA-AU 3 167357873 167357873 single base substitution G A intron_variant MELA-AU 3 167357878 167357878 single base substitution G A intron_variant MELA-AU 3 167357892 167357892 single base substitution G A intron_variant MELA-AU 3 167358048 167358048 single base substitution G A intron_variant MELA-AU 3 167358114 167358114 single base substitution G A intron_variant MELA-AU 3 167358137 167358137 single base substitution C T intron_variant MELA-AU 3 167358234 167358234 single base substitution C T intron_variant MELA-AU 3 167358438 167358438 single base substitution G A intron_variant MELA-AU 3 167358444 167358444 single base substitution G A intron_variant MELA-AU 3 167358510 167358510 single base substitution G A intron_variant MELA-AU 3 167358522 167358522 single base substitution G A intron_variant MELA-AU 3 167358598 167358598 single base substitution G A intron_variant MELA-AU 3 167358637 167358637 single base substitution G A intron_variant MELA-AU 3 167358652 167358652 single base substitution C T intron_variant MELA-AU 3 167358804 167358804 single base substitution G A intron_variant MELA-AU 3 167358937 167358937 single base substitution C T intron_variant MELA-AU 3 167358948 167358948 single base substitution G A intron_variant MELA-AU 3 167358972 167358972 single base substitution C T intron_variant MELA-AU 3 167359270 167359270 single base substitution C T intron_variant MELA-AU 3 167359459 167359459 single base substitution C T intron_variant MELA-AU 3 167359480 167359480 single base substitution C T intron_variant MELA-AU 3 167359525 167359525 single base substitution G A intron_variant MELA-AU 3 167359534 167359534 single base substitution G A intron_variant MELA-AU 3 167359554 167359554 single base substitution G A intron_variant MELA-AU 3 167359784 167359784 single base substitution C T intron_variant MELA-AU 3 167359836 167359836 single base substitution G A intron_variant MELA-AU 3 167359860 167359860 single base substitution C T intron_variant MELA-AU 3 167360175 167360175 single base substitution G A intron_variant MELA-AU 3 167360323 167360323 single base substitution C T intron_variant MELA-AU 3 167360409 167360409 single base substitution G A intron_variant MELA-AU 3 167360462 167360462 single base substitution C T intron_variant MELA-AU 3 167360510 167360510 single base substitution G A intron_variant MELA-AU 3 167360599 167360599 single base substitution G A intron_variant MELA-AU 3 167360605 167360605 single base substitution A G intron_variant MELA-AU 3 167360878 167360878 single base substitution C T intron_variant MELA-AU 3 167361092 167361092 single base substitution C G intron_variant MELA-AU 3 167361114 167361114 single base substitution A T intron_variant MELA-AU 3 167361144 167361144 single base substitution C T intron_variant MELA-AU 3 167361188 167361188 single base substitution G A intron_variant MELA-AU 3 167361341 167361341 single base substitution G A intron_variant MELA-AU 3 167361345 167361345 single base substitution G A intron_variant MELA-AU 3 167361455 167361455 single base substitution G A intron_variant MELA-AU 3 167361479 167361479 single base substitution C T intron_variant MELA-AU 3 167361639 167361639 single base substitution G A intron_variant MELA-AU 3 167361729 167361729 single base substitution G A intron_variant MELA-AU 3 167361750 167361750 single base substitution A G intron_variant MELA-AU 3 167361760 167361760 single base substitution A T intron_variant MELA-AU 3 167361831 167361831 single base substitution C T intron_variant MELA-AU 3 167361862 167361862 single base substitution G A intron_variant MELA-AU 3 167361945 167361945 single base substitution G A intron_variant MELA-AU 3 167361986 167361986 single base substitution G A intron_variant MELA-AU 3 167362018 167362018 single base substitution C T intron_variant MELA-AU 3 167362177 167362177 single base substitution C T intron_variant MELA-AU 3 167362384 167362384 single base substitution T G intron_variant MELA-AU 3 167362465 167362465 single base substitution G A intron_variant MELA-AU 3 167362555 167362555 single base substitution G A intron_variant MELA-AU 3 167362836 167362836 single base substitution G A intron_variant MELA-AU 3 167362888 167362888 single base substitution G A intron_variant MELA-AU 3 167362931 167362931 single base substitution C T intron_variant MELA-AU 3 167362943 167362943 single base substitution G A intron_variant MELA-AU 3 167362964 167362964 single base substitution A T intron_variant MELA-AU 3 167363108 167363108 single base substitution C T intron_variant MELA-AU 3 167363109 167363109 single base substitution C T intron_variant MELA-AU 3 167363170 167363170 single base substitution C T intron_variant MELA-AU 3 167363206 167363206 single base substitution C A intron_variant MELA-AU 3 167363314 167363314 single base substitution A T intron_variant MELA-AU 3 167363320 167363320 single base substitution G A intron_variant MELA-AU 3 167363363 167363363 single base substitution G A intron_variant MELA-AU 3 167363416 167363416 single base substitution G A intron_variant MELA-AU 3 167363551 167363551 single base substitution G A intron_variant MELA-AU 3 167363801 167363801 single base substitution G A intron_variant MELA-AU 3 167363858 167363858 single base substitution C T intron_variant MELA-AU 3 167364018 167364018 single base substitution G A intron_variant MELA-AU 3 167364043 167364043 single base substitution G A intron_variant MELA-AU 3 167364060 167364060 single base substitution C T intron_variant MELA-AU 3 167364070 167364070 single base substitution C T intron_variant MELA-AU 3 167364086 167364086 single base substitution G A intron_variant MELA-AU 3 167364097 167364097 single base substitution C T intron_variant MELA-AU 3 167364132 167364132 single base substitution C T intron_variant MELA-AU 3 167364176 167364176 single base substitution G A intron_variant MELA-AU 3 167364292 167364292 single base substitution G A intron_variant MELA-AU 3 167364325 167364325 single base substitution G A intron_variant MELA-AU 3 167364402 167364402 single base substitution C G intron_variant MELA-AU 3 167364418 167364418 single base substitution G A intron_variant MELA-AU 3 167364730 167364730 single base substitution G A intron_variant MELA-AU 3 167364731 167364731 single base substitution G A intron_variant MELA-AU 3 167364838 167364838 single base substitution G A intron_variant MELA-AU 3 167364869 167364869 single base substitution C T intron_variant MELA-AU 3 167364891 167364891 single base substitution G C intron_variant MELA-AU 3 167364904 167364904 single base substitution G A intron_variant MELA-AU 3 167365168 167365168 single base substitution G A intron_variant MELA-AU 3 167365715 167365715 single base substitution C T intron_variant MELA-AU 3 167365716 167365716 single base substitution C T intron_variant MELA-AU 3 167365843 167365843 single base substitution G A intron_variant MELA-AU 3 167365861 167365861 single base substitution G A intron_variant MELA-AU 3 167365964 167365964 single base substitution A T intron_variant MELA-AU 3 167366053 167366053 single base substitution G A intron_variant MELA-AU 3 167366087 167366087 single base substitution T C intron_variant MELA-AU 3 167366322 167366322 single base substitution T A intron_variant MELA-AU 3 167366496 167366496 single base substitution G A intron_variant MELA-AU 3 167366523 167366523 single base substitution C T intron_variant MELA-AU 3 167366623 167366623 single base substitution C T intron_variant MELA-AU 3 167366659 167366659 single base substitution G A intron_variant MELA-AU 3 167366766 167366766 single base substitution A G intron_variant MELA-AU 3 167366938 167366938 single base substitution G A intron_variant MELA-AU 3 167367041 167367041 single base substitution G T intron_variant MELA-AU 3 167367075 167367075 single base substitution T G intron_variant MELA-AU 3 167367142 167367142 single base substitution C T intron_variant MELA-AU 3 167367294 167367294 single base substitution G A intron_variant MELA-AU 3 167367871 167367871 single base substitution G A intron_variant MELA-AU 3 167368187 167368187 single base substitution C T intron_variant MELA-AU 3 167368236 167368236 single base substitution G A intron_variant MELA-AU 3 167368254 167368254 single base substitution T A intron_variant MELA-AU 3 167368471 167368471 single base substitution C T intron_variant MELA-AU 3 167368738 167368738 single base substitution G A intron_variant MELA-AU 3 167368751 167368751 single base substitution G A intron_variant MELA-AU 3 167369006 167369006 single base substitution C T intron_variant MELA-AU 3 167369039 167369039 single base substitution G A intron_variant MELA-AU 3 167369162 167369162 single base substitution C T intron_variant MELA-AU 3 167369183 167369183 single base substitution T G intron_variant MELA-AU 3 167369333 167369333 single base substitution G A intron_variant MELA-AU 3 167369371 167369371 single base substitution G A intron_variant MELA-AU 3 167369498 167369498 single base substitution C T intron_variant MELA-AU 3 167369590 167369590 single base substitution C T intron_variant MELA-AU 3 167369742 167369742 single base substitution G A intron_variant MELA-AU 3 167369766 167369766 single base substitution C T intron_variant MELA-AU 3 167369911 167369911 single base substitution A G intron_variant MELA-AU 3 167369939 167369939 single base substitution G A intron_variant MELA-AU 3 167370053 167370053 single base substitution G A intron_variant MELA-AU 3 167370055 167370055 single base substitution A G intron_variant MELA-AU 3 167370361 167370361 single base substitution T C intron_variant MELA-AU 3 167370467 167370467 single base substitution G A intron_variant MELA-AU 3 167370543 167370543 single base substitution G A intron_variant MELA-AU 3 167370599 167370599 single base substitution G A intron_variant MELA-AU 3 167370616 167370616 single base substitution G A intron_variant MELA-AU 3 167370722 167370722 single base substitution C T intron_variant MELA-AU 3 167371161 167371161 single base substitution G A 5_prime_UTR_variant MELA-AU 3 167371161 167371161 single base substitution G A exon_variant MELA-AU 3 167371161 167371161 single base substitution G A missense_variant P18L 53C>T MELA-AU 3 167371230 167371230 single base substitution C T 5_prime_UTR_variant MELA-AU 3 167371256 167371256 single base substitution A G 5_prime_UTR_variant MELA-AU 3 167371347 167371347 single base substitution G A intron_variant MELA-AU 3 167371347 167371347 single base substitution G A upstream_gene_variant MELA-AU 3 167371354 167371354 single base substitution G A intron_variant MELA-AU 3 167371354 167371354 single base substitution G A upstream_gene_variant MELA-AU 3 167371416 167371416 single base substitution T C intron_variant MELA-AU 3 167371416 167371416 single base substitution T C upstream_gene_variant MELA-AU 3 167371459 167371459 single base substitution T C intron_variant MELA-AU 3 167371459 167371459 single base substitution T C upstream_gene_variant MELA-AU 3 167371775 167371775 single base substitution C T upstream_gene_variant MELA-AU 3 167371928 167371928 single base substitution A T upstream_gene_variant MELA-AU 3 167372026 167372026 single base substitution G A upstream_gene_variant MELA-AU 3 167372073 167372073 single base substitution G A upstream_gene_variant MELA-AU 3 167372246 167372246 single base substitution G A upstream_gene_variant MELA-AU 3 167372443 167372443 single base substitution G A upstream_gene_variant MELA-AU 3 167372606 167372606 single base substitution G A upstream_gene_variant MELA-AU 3 167372827 167372827 single base substitution G A upstream_gene_variant MELA-AU 3 167372915 167372915 single base substitution G A upstream_gene_variant MELA-AU 3 167373303 167373303 single base substitution C T upstream_gene_variant MELA-AU 3 167373465 167373465 single base substitution C T upstream_gene_variant MELA-AU 3 167373474 167373474 single base substitution T G upstream_gene_variant MELA-AU 3 167373508 167373508 single base substitution G A upstream_gene_variant MELA-AU 3 167373713 167373713 single base substitution C A upstream_gene_variant MELA-AU 3 167373855 167373855 single base substitution A G upstream_gene_variant MELA-AU 3 167374075 167374075 single base substitution G A upstream_gene_variant MELA-AU 3 167374085 167374085 single base substitution C T upstream_gene_variant MELA-AU 3 167374106 167374106 single base substitution T C upstream_gene_variant MELA-AU 3 167374484 167374484 single base substitution G A upstream_gene_variant MELA-AU 3 167374539 167374539 single base substitution C T upstream_gene_variant MELA-AU 3 167374700 167374700 single base substitution G A upstream_gene_variant MELA-AU 3 167374727 167374727 single base substitution G A upstream_gene_variant MELA-AU 3 167375429 167375429 single base substitution C T upstream_gene_variant MELA-AU 3 167375505 167375505 single base substitution C T upstream_gene_variant MELA-AU 3 167375671 167375671 single base substitution C T upstream_gene_variant MELA-AU 3 167375875 167375875 single base substitution T C upstream_gene_variant MELA-AU 3 167376091 167376091 single base substitution T C upstream_gene_variant MELA-AU 3 167376357 167376357 single base substitution C T upstream_gene_variant ORCA-IN 3 167210531 167210531 single base substitution C G intron_variant ORCA-IN 3 167211457 167211457 single base substitution A G intron_variant ORCA-IN 3 167218537 167218537 single base substitution A T intron_variant ORCA-IN 3 167221164 167221164 single base substitution C T intron_variant ORCA-IN 3 167221384 167221384 single base substitution A T intron_variant ORCA-IN 3 167226872 167226872 single base substitution G A intron_variant ORCA-IN 3 167232447 167232447 single base substitution A C intron_variant ORCA-IN 3 167276041 167276042 deletion of <=200bp TT - intron_variant ORCA-IN 3 167297001 167297001 single base substitution C A intron_variant ORCA-IN 3 167297001 167297001 single base substitution C A upstream_gene_variant ORCA-IN 3 167333056 167333056 single base substitution T A intron_variant ORCA-IN 3 167336248 167336248 single base substitution A C downstream_gene_variant ORCA-IN 3 167336248 167336248 single base substitution A C intron_variant ORCA-IN 3 167343805 167343805 single base substitution G A downstream_gene_variant ORCA-IN 3 167343805 167343805 single base substitution G A intron_variant ORCA-IN 3 167344310 167344310 single base substitution C G downstream_gene_variant ORCA-IN 3 167344310 167344310 single base substitution C G intron_variant ORCA-IN 3 167359142 167359142 single base substitution C G intron_variant ORCA-IN 3 167360405 167360405 single base substitution G A intron_variant ORCA-IN 3 167362415 167362415 single base substitution C A intron_variant ORCA-IN 3 167364937 167364937 single base substitution C G intron_variant ORCA-IN 3 167375708 167375708 single base substitution C T upstream_gene_variant OV-AU 3 167193739 167193739 single base substitution A G downstream_gene_variant OV-AU 3 167194551 167194551 single base substitution G C downstream_gene_variant OV-AU 3 167197112 167197112 single base substitution C A intron_variant OV-AU 3 167197165 167197165 single base substitution G T intron_variant OV-AU 3 167199646 167199646 single base substitution C T intron_variant OV-AU 3 167200745 167200745 single base substitution C A intron_variant OV-AU 3 167204532 167204532 single base substitution C A intron_variant OV-AU 3 167206567 167206567 single base substitution A G intron_variant OV-AU 3 167207501 167207501 single base substitution A G intron_variant OV-AU 3 167209868 167209868 single base substitution C T intron_variant OV-AU 3 167209903 167209903 single base substitution G C intron_variant OV-AU 3 167215374 167215374 single base substitution C G intron_variant OV-AU 3 167217876 167217876 single base substitution C G intron_variant OV-AU 3 167221183 167221183 single base substitution C T intron_variant OV-AU 3 167221936 167221936 single base substitution G C intron_variant OV-AU 3 167222221 167222221 single base substitution G T intron_variant OV-AU 3 167222829 167222829 single base substitution C T intron_variant OV-AU 3 167224558 167224558 single base substitution T C intron_variant OV-AU 3 167225096 167225096 single base substitution C A intron_variant OV-AU 3 167229702 167229702 single base substitution C A intron_variant OV-AU 3 167230506 167230506 single base substitution C T intron_variant OV-AU 3 167231202 167231202 single base substitution G T intron_variant OV-AU 3 167232324 167232324 single base substitution A G intron_variant OV-AU 3 167233515 167233515 single base substitution A G intron_variant OV-AU 3 167242547 167242547 single base substitution G C intron_variant OV-AU 3 167246315 167246315 single base substitution A T downstream_gene_variant OV-AU 3 167246315 167246315 single base substitution A T intron_variant OV-AU 3 167247792 167247792 single base substitution C A downstream_gene_variant OV-AU 3 167247792 167247792 single base substitution C A intron_variant OV-AU 3 167249236 167249236 single base substitution C G downstream_gene_variant OV-AU 3 167249236 167249236 single base substitution C G intron_variant OV-AU 3 167249236 167249236 single base substitution C G upstream_gene_variant OV-AU 3 167250546 167250546 single base substitution C A downstream_gene_variant OV-AU 3 167250546 167250546 single base substitution C A intron_variant OV-AU 3 167250546 167250546 single base substitution C A upstream_gene_variant OV-AU 3 167253344 167253344 single base substitution C T intron_variant OV-AU 3 167253344 167253344 single base substitution C T upstream_gene_variant OV-AU 3 167255646 167255646 single base substitution C A intron_variant OV-AU 3 167255647 167255647 single base substitution A C intron_variant OV-AU 3 167259047 167259047 single base substitution C A intron_variant OV-AU 3 167260316 167260316 single base substitution C G intron_variant OV-AU 3 167262558 167262558 single base substitution A C intron_variant OV-AU 3 167262894 167262894 single base substitution T C intron_variant OV-AU 3 167265493 167265493 single base substitution C A intron_variant OV-AU 3 167272905 167272905 single base substitution A T intron_variant OV-AU 3 167278440 167278440 single base substitution C G intron_variant OV-AU 3 167278587 167278587 single base substitution A G intron_variant OV-AU 3 167281723 167281723 single base substitution T C intron_variant OV-AU 3 167284870 167284870 single base substitution A T intron_variant OV-AU 3 167289003 167289003 single base substitution T A intron_variant OV-AU 3 167289572 167289572 single base substitution C A intron_variant OV-AU 3 167289993 167289993 single base substitution C T intron_variant OV-AU 3 167300895 167300895 single base substitution T A intron_variant OV-AU 3 167310382 167310382 single base substitution C A intron_variant OV-AU 3 167316177 167316177 single base substitution T C intron_variant OV-AU 3 167322649 167322649 single base substitution C A intron_variant OV-AU 3 167324895 167324895 single base substitution G A intron_variant OV-AU 3 167326231 167326231 single base substitution G A intron_variant OV-AU 3 167326420 167326420 single base substitution T A intron_variant OV-AU 3 167326750 167326750 single base substitution C T intron_variant OV-AU 3 167326898 167326898 single base substitution G T intron_variant OV-AU 3 167327060 167327060 single base substitution G A intron_variant OV-AU 3 167329178 167329178 single base substitution T C intron_variant OV-AU 3 167330396 167330396 single base substitution A T intron_variant OV-AU 3 167332800 167332800 single base substitution T G intron_variant OV-AU 3 167334947 167334947 single base substitution A T downstream_gene_variant OV-AU 3 167334947 167334947 single base substitution A T intron_variant OV-AU 3 167336278 167336278 single base substitution T C downstream_gene_variant OV-AU 3 167336278 167336278 single base substitution T C intron_variant OV-AU 3 167336283 167336283 single base substitution C T downstream_gene_variant OV-AU 3 167336283 167336283 single base substitution C T intron_variant OV-AU 3 167344048 167344048 single base substitution T A downstream_gene_variant OV-AU 3 167344048 167344048 single base substitution T A intron_variant OV-AU 3 167344409 167344409 single base substitution A G downstream_gene_variant OV-AU 3 167344409 167344409 single base substitution A G intron_variant OV-AU 3 167346197 167346197 single base substitution T A intron_variant OV-AU 3 167348051 167348051 single base substitution A G intron_variant OV-AU 3 167353599 167353599 single base substitution C G intron_variant OV-AU 3 167355869 167355869 single base substitution A T intron_variant OV-AU 3 167356010 167356010 single base substitution G A intron_variant OV-AU 3 167357496 167357496 single base substitution T C intron_variant OV-AU 3 167360297 167360297 single base substitution T C intron_variant OV-AU 3 167364327 167364327 single base substitution T C intron_variant OV-AU 3 167364853 167364853 single base substitution C G intron_variant OV-AU 3 167366198 167366198 single base substitution A C intron_variant OV-AU 3 167366819 167366819 single base substitution A G intron_variant OV-AU 3 167368081 167368081 single base substitution A G intron_variant OV-AU 3 167374992 167374992 single base substitution G A upstream_gene_variant PACA-AU 3 167192111 167192111 single base substitution G A downstream_gene_variant PACA-AU 3 167193516 167193516 deletion of <=200bp T - downstream_gene_variant PACA-AU 3 167198666 167198666 single base substitution C T intron_variant PACA-AU 3 167202540 167202540 single base substitution C A intron_variant PACA-AU 3 167204204 167204204 single base substitution A G intron_variant PACA-AU 3 167205967 167205967 single base substitution C T intron_variant PACA-AU 3 167207935 167207935 single base substitution C T intron_variant PACA-AU 3 167209880 167209880 single base substitution G A intron_variant PACA-AU 3 167211032 167211032 single base substitution G A intron_variant PACA-AU 3 167211765 167211765 single base substitution C T intron_variant PACA-AU 3 167211768 167211768 single base substitution C T intron_variant PACA-AU 3 167212237 167212237 single base substitution A C intron_variant PACA-AU 3 167217304 167217304 single base substitution T A intron_variant PACA-AU 3 167218765 167218765 single base substitution G A intron_variant PACA-AU 3 167219336 167219336 single base substitution C A intron_variant PACA-AU 3 167221081 167221081 single base substitution G A intron_variant PACA-AU 3 167222077 167222077 single base substitution C A intron_variant PACA-AU 3 167226989 167226989 single base substitution A C intron_variant PACA-AU 3 167229113 167229113 single base substitution G C intron_variant PACA-AU 3 167229864 167229864 single base substitution G T intron_variant PACA-AU 3 167229905 167229905 single base substitution C T intron_variant PACA-AU 3 167230216 167230216 single base substitution A C intron_variant PACA-AU 3 167233477 167233477 single base substitution A G intron_variant PACA-AU 3 167238157 167238157 single base substitution G A downstream_gene_variant PACA-AU 3 167238157 167238157 single base substitution G A intron_variant PACA-AU 3 167238550 167238551 deletion of <=200bp CT - downstream_gene_variant PACA-AU 3 167238550 167238551 deletion of <=200bp CT - intron_variant PACA-AU 3 167244570 167244570 single base substitution A G intron_variant PACA-AU 3 167245862 167245862 single base substitution G T downstream_gene_variant PACA-AU 3 167245862 167245862 single base substitution G T intron_variant PACA-AU 3 167245973 167245973 deletion of <=200bp A - downstream_gene_variant PACA-AU 3 167245973 167245973 deletion of <=200bp A - intron_variant PACA-AU 3 167246736 167246736 insertion of <=200bp - T downstream_gene_variant PACA-AU 3 167246736 167246736 insertion of <=200bp - T intron_variant PACA-AU 3 167247003 167247003 single base substitution C T downstream_gene_variant PACA-AU 3 167247003 167247003 single base substitution C T intron_variant PACA-AU 3 167247003 167247003 single base substitution C T missense_variant G221E 662G>A PACA-AU 3 167247003 167247003 single base substitution C T missense_variant G33E 98G>A PACA-AU 3 167247003 167247003 single base substitution C T missense_variant G396E 1187G>A PACA-AU 3 167247003 167247003 single base substitution C T missense_variant G460E 1379G>A PACA-AU 3 167247003 167247003 single base substitution C T missense_variant G471E 1412G>A PACA-AU 3 167248987 167248987 single base substitution G A downstream_gene_variant PACA-AU 3 167248987 167248987 single base substitution G A intron_variant PACA-AU 3 167248987 167248987 single base substitution G A missense_variant R185C 553C>T PACA-AU 3 167248987 167248987 single base substitution G A missense_variant R360C 1078C>T PACA-AU 3 167248987 167248987 single base substitution G A missense_variant R424C 1270C>T PACA-AU 3 167248987 167248987 single base substitution G A missense_variant R435C 1303C>T PACA-AU 3 167248987 167248987 single base substitution G A upstream_gene_variant PACA-AU 3 167249045 167249045 single base substitution G A downstream_gene_variant PACA-AU 3 167249045 167249045 single base substitution G A intron_variant PACA-AU 3 167249045 167249045 single base substitution G A synonymous_variant L165L 495C>T PACA-AU 3 167249045 167249045 single base substitution G A synonymous_variant L340L 1020C>T PACA-AU 3 167249045 167249045 single base substitution G A synonymous_variant L404L 1212C>T PACA-AU 3 167249045 167249045 single base substitution G A synonymous_variant L415L 1245C>T PACA-AU 3 167249045 167249045 single base substitution G A upstream_gene_variant PACA-AU 3 167249059 167249059 single base substitution G A downstream_gene_variant PACA-AU 3 167249059 167249059 single base substitution G A intron_variant PACA-AU 3 167249059 167249059 single base substitution G A missense_variant P161S 481C>T PACA-AU 3 167249059 167249059 single base substitution G A missense_variant P336S 1006C>T PACA-AU 3 167249059 167249059 single base substitution G A missense_variant P400S 1198C>T PACA-AU 3 167249059 167249059 single base substitution G A missense_variant P411S 1231C>T PACA-AU 3 167249059 167249059 single base substitution G A upstream_gene_variant PACA-AU 3 167250647 167250647 single base substitution C T downstream_gene_variant PACA-AU 3 167250647 167250647 single base substitution C T intron_variant PACA-AU 3 167250647 167250647 single base substitution C T upstream_gene_variant PACA-AU 3 167251230 167251230 deletion of <=200bp A - intron_variant PACA-AU 3 167251230 167251230 deletion of <=200bp A - upstream_gene_variant PACA-AU 3 167251805 167251805 single base substitution G A intron_variant PACA-AU 3 167251805 167251805 single base substitution G A upstream_gene_variant PACA-AU 3 167252650 167252650 single base substitution A G intron_variant PACA-AU 3 167252650 167252650 single base substitution A G upstream_gene_variant PACA-AU 3 167252880 167252880 single base substitution A C intron_variant PACA-AU 3 167252880 167252880 single base substitution A C upstream_gene_variant PACA-AU 3 167253190 167253190 single base substitution A G intron_variant PACA-AU 3 167253190 167253190 single base substitution A G upstream_gene_variant PACA-AU 3 167261016 167261016 single base substitution C A intron_variant PACA-AU 3 167261195 167261195 single base substitution C A intron_variant PACA-AU 3 167261771 167261771 single base substitution T C intron_variant PACA-AU 3 167263282 167263282 single base substitution A T intron_variant PACA-AU 3 167263283 167263283 single base substitution T A intron_variant PACA-AU 3 167263523 167263523 single base substitution G A intron_variant PACA-AU 3 167263652 167263652 deletion of <=200bp A - intron_variant PACA-AU 3 167265620 167265620 single base substitution A C intron_variant PACA-AU 3 167268319 167268319 single base substitution C T downstream_gene_variant PACA-AU 3 167268319 167268319 single base substitution C T intron_variant PACA-AU 3 167269095 167269095 single base substitution G C downstream_gene_variant PACA-AU 3 167269095 167269095 single base substitution G C intron_variant PACA-AU 3 167273228 167273228 single base substitution C T intron_variant PACA-AU 3 167273794 167273794 single base substitution C T intron_variant PACA-AU 3 167277927 167277927 single base substitution G A intron_variant PACA-AU 3 167277927 167277927 single base substitution G A synonymous_variant N17N 51C>T PACA-AU 3 167277927 167277927 single base substitution G A synonymous_variant N192N 576C>T PACA-AU 3 167277927 167277927 single base substitution G A synonymous_variant N245N 735C>T PACA-AU 3 167277927 167277927 single base substitution G A synonymous_variant N256N 768C>T PACA-AU 3 167277927 167277927 single base substitution G A synonymous_variant N85N 255C>T PACA-AU 3 167278056 167278056 single base substitution T C intron_variant PACA-AU 3 167280780 167280780 single base substitution C A intron_variant PACA-AU 3 167281299 167281299 insertion of <=200bp - A intron_variant PACA-AU 3 167281778 167281778 deletion of <=200bp G - intron_variant PACA-AU 3 167282296 167282296 single base substitution C T intron_variant PACA-AU 3 167283129 167283129 single base substitution G A intron_variant PACA-AU 3 167283248 167283248 single base substitution A G intron_variant PACA-AU 3 167284434 167284434 single base substitution G A intron_variant PACA-AU 3 167286869 167286869 single base substitution A G intron_variant PACA-AU 3 167286978 167286978 single base substitution C T intron_variant PACA-AU 3 167290461 167290461 single base substitution C T intron_variant PACA-AU 3 167290538 167290538 single base substitution C T intron_variant PACA-AU 3 167293165 167293165 single base substitution C T intron_variant PACA-AU 3 167293165 167293165 single base substitution C T upstream_gene_variant PACA-AU 3 167293358 167293358 single base substitution A T intron_variant PACA-AU 3 167293358 167293358 single base substitution A T upstream_gene_variant PACA-AU 3 167294957 167294957 single base substitution T C intron_variant PACA-AU 3 167294957 167294957 single base substitution T C upstream_gene_variant PACA-AU 3 167297993 167297993 single base substitution T C intron_variant PACA-AU 3 167297993 167297993 single base substitution T C upstream_gene_variant PACA-AU 3 167300523 167300523 single base substitution G T intron_variant PACA-AU 3 167304120 167304120 single base substitution C T intron_variant PACA-AU 3 167305130 167305130 single base substitution C A intron_variant PACA-AU 3 167307632 167307632 single base substitution A G intron_variant PACA-AU 3 167311129 167311129 single base substitution C A intron_variant PACA-AU 3 167311143 167311143 single base substitution A T intron_variant PACA-AU 3 167312449 167312449 single base substitution T C intron_variant PACA-AU 3 167316113 167316113 insertion of <=200bp - A intron_variant PACA-AU 3 167316728 167316728 single base substitution C T intron_variant PACA-AU 3 167317047 167317047 single base substitution G A intron_variant PACA-AU 3 167317912 167317912 single base substitution A G intron_variant PACA-AU 3 167317967 167317967 single base substitution C T intron_variant PACA-AU 3 167317968 167317968 single base substitution G A intron_variant PACA-AU 3 167320276 167320276 single base substitution A G intron_variant PACA-AU 3 167322837 167322837 single base substitution C T intron_variant PACA-AU 3 167325759 167325759 single base substitution G C intron_variant PACA-AU 3 167326270 167326270 single base substitution C T intron_variant PACA-AU 3 167326703 167326703 single base substitution A C intron_variant PACA-AU 3 167329483 167329483 single base substitution T A intron_variant PACA-AU 3 167329484 167329484 single base substitution C A intron_variant PACA-AU 3 167331634 167331634 single base substitution G A intron_variant PACA-AU 3 167332034 167332034 single base substitution C T intron_variant PACA-AU 3 167333940 167333940 single base substitution C T intron_variant PACA-AU 3 167334783 167334783 single base substitution G T downstream_gene_variant PACA-AU 3 167334783 167334783 single base substitution G T intron_variant PACA-AU 3 167335207 167335207 single base substitution C T downstream_gene_variant PACA-AU 3 167335207 167335207 single base substitution C T intron_variant PACA-AU 3 167335766 167335766 single base substitution G A downstream_gene_variant PACA-AU 3 167335766 167335766 single base substitution G A intron_variant PACA-AU 3 167338346 167338346 single base substitution G A downstream_gene_variant PACA-AU 3 167338346 167338346 single base substitution G A intron_variant PACA-AU 3 167338346 167338346 single base substitution G A missense_variant R277W 829C>T PACA-AU 3 167338346 167338346 single base substitution G A upstream_gene_variant PACA-AU 3 167338985 167338985 deletion of <=200bp A - downstream_gene_variant PACA-AU 3 167338985 167338985 deletion of <=200bp A - intron_variant PACA-AU 3 167338985 167338985 deletion of <=200bp A - upstream_gene_variant PACA-AU 3 167341815 167341815 single base substitution T G downstream_gene_variant PACA-AU 3 167341815 167341815 single base substitution T G intron_variant PACA-AU 3 167341815 167341815 single base substitution T G upstream_gene_variant PACA-AU 3 167342255 167342255 insertion of <=200bp - C downstream_gene_variant PACA-AU 3 167342255 167342255 insertion of <=200bp - C intron_variant PACA-AU 3 167342255 167342255 insertion of <=200bp - C upstream_gene_variant PACA-AU 3 167344499 167344499 single base substitution G A downstream_gene_variant PACA-AU 3 167344499 167344499 single base substitution G A intron_variant PACA-AU 3 167346881 167346881 insertion of <=200bp - A intron_variant PACA-AU 3 167347115 167347115 single base substitution G A intron_variant PACA-AU 3 167348732 167348732 single base substitution T G intron_variant PACA-AU 3 167348788 167348788 deletion of <=200bp C - intron_variant PACA-AU 3 167349208 167349208 single base substitution G A intron_variant PACA-AU 3 167349217 167349217 single base substitution A C intron_variant PACA-AU 3 167349345 167349345 single base substitution A C intron_variant PACA-AU 3 167351766 167351766 single base substitution G A intron_variant PACA-AU 3 167354614 167354614 deletion of <=200bp T - intron_variant PACA-AU 3 167356075 167356075 single base substitution T A intron_variant PACA-AU 3 167358539 167358539 deletion of <=200bp T - intron_variant PACA-AU 3 167366768 167366768 single base substitution T A intron_variant PACA-AU 3 167367390 167367390 single base substitution G C intron_variant PACA-AU 3 167368204 167368204 single base substitution G A intron_variant PACA-AU 3 167370376 167370376 single base substitution T A intron_variant PACA-AU 3 167375560 167375560 single base substitution T C upstream_gene_variant PACA-CA 3 167192042 167192042 single base substitution T G downstream_gene_variant PACA-CA 3 167193776 167193776 single base substitution A G downstream_gene_variant PACA-CA 3 167195649 167195649 single base substitution G A downstream_gene_variant PACA-CA 3 167196388 167196388 single base substitution G C downstream_gene_variant PACA-CA 3 167198890 167198890 single base substitution A T intron_variant PACA-CA 3 167199258 167199258 insertion of <=200bp - A intron_variant PACA-CA 3 167199944 167199944 deletion of <=200bp A - intron_variant PACA-CA 3 167201282 167201282 single base substitution C A intron_variant PACA-CA 3 167202168 167202168 single base substitution G A intron_variant PACA-CA 3 167202290 167202290 single base substitution G A intron_variant PACA-CA 3 167202524 167202524 single base substitution T C intron_variant PACA-CA 3 167205220 167205220 single base substitution G T intron_variant PACA-CA 3 167206209 167206209 single base substitution G T intron_variant PACA-CA 3 167208720 167208720 insertion of <=200bp - T intron_variant PACA-CA 3 167208735 167208735 single base substitution T G intron_variant PACA-CA 3 167209408 167209408 single base substitution A T intron_variant PACA-CA 3 167210220 167210220 single base substitution A G intron_variant PACA-CA 3 167210462 167210462 single base substitution A G intron_variant PACA-CA 3 167210570 167210570 single base substitution G A intron_variant PACA-CA 3 167211424 167211424 single base substitution G C intron_variant PACA-CA 3 167211770 167211770 single base substitution C G intron_variant PACA-CA 3 167213447 167213447 single base substitution A C intron_variant PACA-CA 3 167213510 167213510 deletion of <=200bp A - intron_variant PACA-CA 3 167213810 167213810 single base substitution C A intron_variant PACA-CA 3 167220123 167220123 single base substitution C T intron_variant PACA-CA 3 167220507 167220507 single base substitution G C intron_variant PACA-CA 3 167220984 167220984 single base substitution A T intron_variant PACA-CA 3 167221183 167221183 single base substitution C T intron_variant PACA-CA 3 167222526 167222526 single base substitution C G intron_variant PACA-CA 3 167223286 167223286 insertion of <=200bp - A intron_variant PACA-CA 3 167223861 167223861 single base substitution T A intron_variant PACA-CA 3 167223864 167223864 single base substitution C T intron_variant PACA-CA 3 167225651 167225651 single base substitution G T intron_variant PACA-CA 3 167227318 167227318 single base substitution G A intron_variant PACA-CA 3 167228057 167228057 single base substitution G T intron_variant PACA-CA 3 167229906 167229906 single base substitution G A intron_variant PACA-CA 3 167230225 167230225 single base substitution C T intron_variant PACA-CA 3 167230790 167230805 deletion of <=200bp GAATGGAAACAAGTTG - intron_variant PACA-CA 3 167230848 167230848 single base substitution C T intron_variant PACA-CA 3 167231318 167231318 single base substitution C T intron_variant PACA-CA 3 167231958 167231958 single base substitution C A intron_variant PACA-CA 3 167232153 167232153 single base substitution T C intron_variant PACA-CA 3 167232224 167232224 single base substitution C T intron_variant PACA-CA 3 167232303 167232303 single base substitution A T intron_variant PACA-CA 3 167234216 167234216 single base substitution C T intron_variant PACA-CA 3 167234316 167234316 single base substitution G A intron_variant PACA-CA 3 167237790 167237790 single base substitution A T downstream_gene_variant PACA-CA 3 167237790 167237790 single base substitution A T intron_variant PACA-CA 3 167238283 167238283 single base substitution A T downstream_gene_variant PACA-CA 3 167238283 167238283 single base substitution A T intron_variant PACA-CA 3 167240063 167240063 single base substitution G A downstream_gene_variant PACA-CA 3 167240063 167240063 single base substitution G A intron_variant PACA-CA 3 167242479 167242479 single base substitution G T intron_variant PACA-CA 3 167243158 167243158 single base substitution C T intron_variant PACA-CA 3 167243938 167243938 deletion of <=200bp A - intron_variant PACA-CA 3 167245346 167245346 insertion of <=200bp - T intron_variant PACA-CA 3 167245875 167245875 insertion of <=200bp - A downstream_gene_variant PACA-CA 3 167245875 167245875 insertion of <=200bp - A intron_variant PACA-CA 3 167245876 167245876 single base substitution A T downstream_gene_variant PACA-CA 3 167245876 167245876 single base substitution A T intron_variant PACA-CA 3 167250071 167250071 single base substitution G A downstream_gene_variant PACA-CA 3 167250071 167250071 single base substitution G A intron_variant PACA-CA 3 167250071 167250071 single base substitution G A upstream_gene_variant PACA-CA 3 167250422 167250422 single base substitution C T downstream_gene_variant PACA-CA 3 167250422 167250422 single base substitution C T intron_variant PACA-CA 3 167250422 167250422 single base substitution C T upstream_gene_variant PACA-CA 3 167252257 167252257 single base substitution G T intron_variant PACA-CA 3 167252257 167252257 single base substitution G T upstream_gene_variant PACA-CA 3 167253651 167253651 deletion of <=200bp A - intron_variant PACA-CA 3 167253651 167253651 deletion of <=200bp A - upstream_gene_variant PACA-CA 3 167254494 167254494 single base substitution C T intron_variant PACA-CA 3 167254522 167254522 single base substitution C T intron_variant PACA-CA 3 167256423 167256423 single base substitution G C intron_variant PACA-CA 3 167258248 167258248 single base substitution C T intron_variant PACA-CA 3 167259014 167259014 single base substitution G C intron_variant PACA-CA 3 167262830 167262830 single base substitution A G intron_variant PACA-CA 3 167263497 167263497 single base substitution C T intron_variant PACA-CA 3 167263631 167263631 single base substitution T C intron_variant PACA-CA 3 167264548 167264548 single base substitution T A intron_variant PACA-CA 3 167266091 167266091 single base substitution G A intron_variant PACA-CA 3 167266709 167266709 single base substitution C G intron_variant PACA-CA 3 167268824 167268824 single base substitution A C downstream_gene_variant PACA-CA 3 167268824 167268824 single base substitution A C intron_variant PACA-CA 3 167269123 167269123 single base substitution G C downstream_gene_variant PACA-CA 3 167269123 167269123 single base substitution G C intron_variant PACA-CA 3 167270959 167270959 single base substitution C G downstream_gene_variant PACA-CA 3 167270959 167270959 single base substitution C G intron_variant PACA-CA 3 167271394 167271394 single base substitution G A downstream_gene_variant PACA-CA 3 167271394 167271394 single base substitution G A intron_variant PACA-CA 3 167272766 167272766 single base substitution C T intron_variant PACA-CA 3 167274182 167274182 single base substitution T C intron_variant PACA-CA 3 167274537 167274537 single base substitution G A intron_variant PACA-CA 3 167274995 167274995 single base substitution T A intron_variant PACA-CA 3 167277883 167277883 single base substitution A G intron_variant PACA-CA 3 167277883 167277883 single base substitution A G missense_variant L100P 299T>C PACA-CA 3 167277883 167277883 single base substitution A G missense_variant L207P 620T>C PACA-CA 3 167277883 167277883 single base substitution A G missense_variant L260P 779T>C PACA-CA 3 167277883 167277883 single base substitution A G missense_variant L271P 812T>C PACA-CA 3 167277883 167277883 single base substitution A G missense_variant L32P 95T>C PACA-CA 3 167279716 167279716 single base substitution G T intron_variant PACA-CA 3 167280940 167280940 single base substitution G A intron_variant PACA-CA 3 167281298 167281298 single base substitution G A intron_variant PACA-CA 3 167283265 167283265 single base substitution T G intron_variant PACA-CA 3 167284287 167284287 insertion of <=200bp - A intron_variant PACA-CA 3 167284665 167284665 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 3 167284665 167284665 single base substitution G A intron_variant PACA-CA 3 167284665 167284665 single base substitution G A synonymous_variant D509D 1527C>T PACA-CA 3 167288134 167288134 single base substitution T G intron_variant PACA-CA 3 167288548 167288548 single base substitution G A intron_variant PACA-CA 3 167288563 167288563 single base substitution C T intron_variant PACA-CA 3 167289291 167289291 insertion of <=200bp - A intron_variant PACA-CA 3 167291637 167291637 single base substitution T C intron_variant PACA-CA 3 167292220 167292220 single base substitution A G intron_variant PACA-CA 3 167292686 167292686 single base substitution G A intron_variant PACA-CA 3 167294969 167294969 single base substitution T C intron_variant PACA-CA 3 167294969 167294969 single base substitution T C upstream_gene_variant PACA-CA 3 167296072 167296072 single base substitution C T intron_variant PACA-CA 3 167296072 167296072 single base substitution C T upstream_gene_variant PACA-CA 3 167297516 167297516 single base substitution A G intron_variant PACA-CA 3 167297516 167297516 single base substitution A G upstream_gene_variant PACA-CA 3 167301319 167301319 insertion of <=200bp - A intron_variant PACA-CA 3 167301722 167301722 single base substitution A G intron_variant PACA-CA 3 167302355 167302355 single base substitution G A intron_variant PACA-CA 3 167303325 167303325 insertion of <=200bp - A intron_variant PACA-CA 3 167305327 167305327 single base substitution G A intron_variant PACA-CA 3 167305673 167305673 single base substitution C T intron_variant PACA-CA 3 167306636 167306636 single base substitution G C intron_variant PACA-CA 3 167306699 167306699 single base substitution T A intron_variant PACA-CA 3 167307447 167307447 single base substitution T A intron_variant PACA-CA 3 167309835 167309835 deletion of <=200bp T - intron_variant PACA-CA 3 167309940 167309940 single base substitution C T intron_variant PACA-CA 3 167310805 167310805 single base substitution C T intron_variant PACA-CA 3 167311973 167311973 single base substitution C T intron_variant PACA-CA 3 167314798 167314798 single base substitution G C intron_variant PACA-CA 3 167315918 167315918 single base substitution C A intron_variant PACA-CA 3 167317279 167317279 single base substitution C G intron_variant PACA-CA 3 167318109 167318109 single base substitution G A intron_variant PACA-CA 3 167321475 167321475 single base substitution C T intron_variant PACA-CA 3 167322354 167322354 single base substitution A G intron_variant PACA-CA 3 167325331 167325331 single base substitution G C intron_variant PACA-CA 3 167325727 167325727 single base substitution C T intron_variant PACA-CA 3 167326499 167326516 deletion of <=200bp AAAAGTTTTAAAACTATC - intron_variant PACA-CA 3 167327007 167327007 insertion of <=200bp - A intron_variant PACA-CA 3 167327506 167327506 single base substitution C T intron_variant PACA-CA 3 167329574 167329574 insertion of <=200bp - A intron_variant PACA-CA 3 167330164 167330164 single base substitution A G intron_variant PACA-CA 3 167332034 167332034 single base substitution C T intron_variant PACA-CA 3 167332443 167332443 single base substitution T C intron_variant PACA-CA 3 167333115 167333115 single base substitution G T intron_variant PACA-CA 3 167333505 167333505 single base substitution G A intron_variant PACA-CA 3 167333635 167333635 single base substitution C G intron_variant PACA-CA 3 167334610 167334610 single base substitution G A downstream_gene_variant PACA-CA 3 167334610 167334610 single base substitution G A intron_variant PACA-CA 3 167335167 167335167 single base substitution T G downstream_gene_variant PACA-CA 3 167335167 167335167 single base substitution T G intron_variant PACA-CA 3 167336677 167336677 single base substitution A G downstream_gene_variant PACA-CA 3 167336677 167336677 single base substitution A G intron_variant PACA-CA 3 167337273 167337273 single base substitution G T downstream_gene_variant PACA-CA 3 167337273 167337273 single base substitution G T intron_variant PACA-CA 3 167337368 167337368 single base substitution C T downstream_gene_variant PACA-CA 3 167337368 167337368 single base substitution C T intron_variant PACA-CA 3 167341460 167341460 single base substitution A G downstream_gene_variant PACA-CA 3 167341460 167341460 single base substitution A G intron_variant PACA-CA 3 167341460 167341460 single base substitution A G upstream_gene_variant PACA-CA 3 167342356 167342356 single base substitution T C downstream_gene_variant PACA-CA 3 167342356 167342356 single base substitution T C intron_variant PACA-CA 3 167342356 167342356 single base substitution T C upstream_gene_variant PACA-CA 3 167342595 167342595 single base substitution A G downstream_gene_variant PACA-CA 3 167342595 167342595 single base substitution A G intron_variant PACA-CA 3 167342595 167342595 single base substitution A G upstream_gene_variant PACA-CA 3 167343191 167343191 single base substitution A T downstream_gene_variant PACA-CA 3 167343191 167343191 single base substitution A T intron_variant PACA-CA 3 167343191 167343191 single base substitution A T upstream_gene_variant PACA-CA 3 167343208 167343208 single base substitution T G downstream_gene_variant PACA-CA 3 167343208 167343208 single base substitution T G intron_variant PACA-CA 3 167343208 167343208 single base substitution T G upstream_gene_variant PACA-CA 3 167344580 167344580 single base substitution C A downstream_gene_variant PACA-CA 3 167344580 167344580 single base substitution C A intron_variant PACA-CA 3 167344581 167344581 single base substitution C A downstream_gene_variant PACA-CA 3 167344581 167344581 single base substitution C A intron_variant PACA-CA 3 167344887 167344887 single base substitution C T downstream_gene_variant PACA-CA 3 167344887 167344887 single base substitution C T intron_variant PACA-CA 3 167344887 167344887 single base substitution C T missense_variant R120Q 359G>A PACA-CA 3 167345981 167345981 single base substitution A C intron_variant PACA-CA 3 167347139 167347139 single base substitution T C intron_variant PACA-CA 3 167348792 167348792 single base substitution G A intron_variant PACA-CA 3 167349604 167349604 single base substitution G T intron_variant PACA-CA 3 167350358 167350358 single base substitution A G intron_variant PACA-CA 3 167350807 167350807 single base substitution G A intron_variant PACA-CA 3 167351451 167351451 single base substitution C T intron_variant PACA-CA 3 167352452 167352452 single base substitution C A intron_variant PACA-CA 3 167353843 167353843 single base substitution C A intron_variant PACA-CA 3 167354436 167354436 single base substitution A G intron_variant PACA-CA 3 167356271 167356271 single base substitution G C intron_variant PACA-CA 3 167358716 167358716 single base substitution G A intron_variant PACA-CA 3 167360771 167360771 single base substitution G A intron_variant PACA-CA 3 167362402 167362402 single base substitution G T intron_variant PACA-CA 3 167363170 167363170 single base substitution C T intron_variant PACA-CA 3 167364291 167364291 single base substitution C T intron_variant PACA-CA 3 167364344 167364344 single base substitution C T intron_variant PACA-CA 3 167365949 167365949 single base substitution T C intron_variant PACA-CA 3 167365975 167365975 single base substitution C T intron_variant PACA-CA 3 167366488 167366488 single base substitution G A intron_variant PACA-CA 3 167366926 167366926 single base substitution G T intron_variant PACA-CA 3 167369977 167369977 single base substitution T C intron_variant PACA-CA 3 167371241 167371241 single base substitution T G 5_prime_UTR_variant PACA-CA 3 167371351 167371351 single base substitution T C intron_variant PACA-CA 3 167371351 167371351 single base substitution T C upstream_gene_variant PACA-CA 3 167371806 167371806 single base substitution A G upstream_gene_variant PACA-CA 3 167371881 167371881 insertion of <=200bp - T upstream_gene_variant PACA-CA 3 167373713 167373713 single base substitution C A upstream_gene_variant PACA-CA 3 167373715 167373715 single base substitution A C upstream_gene_variant PACA-CA 3 167375322 167375322 insertion of <=200bp - C upstream_gene_variant PACA-CA 3 167375323 167375323 deletion of <=200bp C - upstream_gene_variant PAEN-AU 3 167298182 167298182 single base substitution G T intron_variant PAEN-AU 3 167299089 167299089 single base substitution A G intron_variant PAEN-AU 3 167314952 167314952 single base substitution C A intron_variant PAEN-AU 3 167321681 167321682 deletion of <=200bp TG - intron_variant PAEN-AU 3 167324053 167324053 single base substitution G A intron_variant PAEN-AU 3 167336744 167336744 single base substitution G T downstream_gene_variant PAEN-AU 3 167336744 167336744 single base substitution G T intron_variant PAEN-AU 3 167374221 167374221 single base substitution A T upstream_gene_variant PAEN-IT 3 167205523 167205523 single base substitution C T intron_variant PAEN-IT 3 167255894 167255894 single base substitution C G intron_variant PAEN-IT 3 167293599 167293599 single base substitution T C intron_variant PAEN-IT 3 167293599 167293599 single base substitution T C upstream_gene_variant PAEN-IT 3 167322814 167322814 single base substitution G T intron_variant PAEN-IT 3 167357647 167357647 single base substitution T C intron_variant PAEN-IT 3 167359723 167359723 single base substitution G T intron_variant PBCA-DE 3 167201701 167201701 single base substitution C T intron_variant PBCA-DE 3 167203498 167203498 single base substitution T C intron_variant PBCA-DE 3 167203915 167203915 single base substitution T A intron_variant PBCA-DE 3 167208306 167208306 single base substitution A T intron_variant PBCA-DE 3 167208969 167208969 single base substitution A G intron_variant PBCA-DE 3 167211354 167211354 single base substitution C A intron_variant PBCA-DE 3 167218005 167218005 single base substitution T C intron_variant PBCA-DE 3 167218005 167218005 single base substitution T C synonymous_variant K462K 1386A>G PBCA-DE 3 167218005 167218005 single base substitution T C synonymous_variant K602K 1806A>G PBCA-DE 3 167218005 167218005 single base substitution T C synonymous_variant K613K 1839A>G PBCA-DE 3 167218005 167218005 single base substitution T C synonymous_variant K637K 1911A>G PBCA-DE 3 167222322 167222322 insertion of <=200bp - T intron_variant PBCA-DE 3 167223980 167223980 single base substitution A T intron_variant PBCA-DE 3 167231831 167231831 single base substitution A C intron_variant PBCA-DE 3 167233067 167233067 single base substitution C T intron_variant PBCA-DE 3 167237868 167237869 deletion of <=200bp TG - downstream_gene_variant PBCA-DE 3 167237868 167237869 deletion of <=200bp TG - intron_variant PBCA-DE 3 167238032 167238032 deletion of <=200bp A - downstream_gene_variant PBCA-DE 3 167238032 167238032 deletion of <=200bp A - intron_variant PBCA-DE 3 167241749 167241749 single base substitution G T intron_variant PBCA-DE 3 167245202 167245202 deletion of <=200bp T - intron_variant PBCA-DE 3 167248358 167248358 deletion of <=200bp A - downstream_gene_variant PBCA-DE 3 167248358 167248358 deletion of <=200bp A - intron_variant PBCA-DE 3 167252230 167252230 single base substitution C T intron_variant PBCA-DE 3 167252230 167252230 single base substitution C T upstream_gene_variant PBCA-DE 3 167254331 167254331 single base substitution G T intron_variant PBCA-DE 3 167255686 167255686 single base substitution C T intron_variant PBCA-DE 3 167258789 167258789 insertion of <=200bp - A intron_variant PBCA-DE 3 167262050 167262050 insertion of <=200bp - T intron_variant PBCA-DE 3 167264609 167264609 single base substitution T G intron_variant PBCA-DE 3 167264815 167264815 single base substitution G A intron_variant PBCA-DE 3 167268299 167268299 single base substitution G C downstream_gene_variant PBCA-DE 3 167268299 167268299 single base substitution G C intron_variant PBCA-DE 3 167284233 167284233 single base substitution C T intron_variant PBCA-DE 3 167287764 167287764 single base substitution G A intron_variant PBCA-DE 3 167290555 167290557 deletion of <=200bp GAG - intron_variant PBCA-DE 3 167291180 167291181 deletion of <=200bp AC - intron_variant PBCA-DE 3 167299820 167299833 deletion of <=200bp GTGTGTGTGTGTGT - intron_variant PBCA-DE 3 167303004 167303004 single base substitution T C intron_variant PBCA-DE 3 167303005 167303005 single base substitution G T intron_variant PBCA-DE 3 167304931 167304931 single base substitution T G intron_variant PBCA-DE 3 167316361 167316361 single base substitution G A intron_variant PBCA-DE 3 167317967 167317967 single base substitution C T intron_variant PBCA-DE 3 167317968 167317968 single base substitution G A intron_variant PBCA-DE 3 167320824 167320824 single base substitution C A intron_variant PBCA-DE 3 167321852 167321852 insertion of <=200bp - A intron_variant PBCA-DE 3 167321976 167321976 single base substitution G A intron_variant PBCA-DE 3 167322851 167322851 single base substitution G A intron_variant PBCA-DE 3 167324176 167324176 single base substitution G T intron_variant PBCA-DE 3 167324222 167324222 single base substitution G C intron_variant PBCA-DE 3 167333379 167333379 insertion of <=200bp - T intron_variant PBCA-DE 3 167337715 167337715 insertion of <=200bp - C downstream_gene_variant PBCA-DE 3 167337715 167337715 insertion of <=200bp - C intron_variant PBCA-DE 3 167339479 167339479 single base substitution C A intron_variant PBCA-DE 3 167339479 167339479 single base substitution C A upstream_gene_variant PBCA-DE 3 167341224 167341224 single base substitution G T downstream_gene_variant PBCA-DE 3 167341224 167341224 single base substitution G T intron_variant PBCA-DE 3 167341224 167341224 single base substitution G T upstream_gene_variant PBCA-DE 3 167347212 167347212 single base substitution C G intron_variant PBCA-DE 3 167350877 167350878 deletion of <=200bp GT - intron_variant PBCA-DE 3 167353211 167353211 single base substitution A T intron_variant PBCA-DE 3 167359643 167359643 single base substitution G A intron_variant PBCA-DE 3 167368306 167368306 single base substitution G A intron_variant PBCA-DE 3 167369383 167369383 deletion of <=200bp T - intron_variant PBCA-DE 3 167373682 167373683 deletion of <=200bp TC - upstream_gene_variant PBCA-DE 3 167375202 167375202 single base substitution A G upstream_gene_variant PBCA-DE 3 167375762 167375762 insertion of <=200bp - T upstream_gene_variant PRAD-CA 3 167200233 167200233 single base substitution G A intron_variant PRAD-CA 3 167218801 167218801 single base substitution T C intron_variant PRAD-CA 3 167219186 167219186 single base substitution C A intron_variant PRAD-CA 3 167230933 167230933 single base substitution T C intron_variant PRAD-CA 3 167232416 167232416 single base substitution G C intron_variant PRAD-CA 3 167238962 167238962 single base substitution A C downstream_gene_variant PRAD-CA 3 167238962 167238962 single base substitution A C intron_variant PRAD-CA 3 167246520 167246520 single base substitution A C downstream_gene_variant PRAD-CA 3 167246520 167246520 single base substitution A C intron_variant PRAD-CA 3 167258571 167258571 single base substitution A T intron_variant PRAD-CA 3 167261357 167261357 single base substitution G T intron_variant PRAD-CA 3 167264084 167264084 single base substitution A T intron_variant PRAD-CA 3 167270942 167270942 single base substitution A G downstream_gene_variant PRAD-CA 3 167270942 167270942 single base substitution A G intron_variant PRAD-CA 3 167276277 167276277 single base substitution C G intron_variant PRAD-CA 3 167277781 167277781 single base substitution A G intron_variant PRAD-CA 3 167282304 167282304 single base substitution G A intron_variant PRAD-CA 3 167286256 167286256 single base substitution C A intron_variant PRAD-CA 3 167287606 167287606 single base substitution G A intron_variant PRAD-CA 3 167298127 167298127 single base substitution C T intron_variant PRAD-CA 3 167300977 167300977 single base substitution G A intron_variant PRAD-CA 3 167301390 167301390 single base substitution C A intron_variant PRAD-CA 3 167316229 167316229 single base substitution T C intron_variant PRAD-CA 3 167325331 167325331 single base substitution G T intron_variant PRAD-CA 3 167349132 167349132 single base substitution G A intron_variant PRAD-CA 3 167351288 167351288 single base substitution G A exon_variant PRAD-CA 3 167351288 167351288 single base substitution G A intron_variant PRAD-CA 3 167364271 167364271 single base substitution C T intron_variant PRAD-CA 3 167372013 167372013 single base substitution G A upstream_gene_variant PRAD-CA 3 167373715 167373715 single base substitution A C upstream_gene_variant PRAD-CA 3 167375429 167375429 single base substitution C T upstream_gene_variant PRAD-UK 3 167199457 167199457 single base substitution C T intron_variant PRAD-UK 3 167200128 167200128 single base substitution A G intron_variant PRAD-UK 3 167200808 167200808 single base substitution G A intron_variant PRAD-UK 3 167204258 167204258 insertion of <=200bp - A intron_variant PRAD-UK 3 167211680 167211680 single base substitution T A intron_variant PRAD-UK 3 167214427 167214427 single base substitution C T intron_variant PRAD-UK 3 167217490 167217490 single base substitution G A intron_variant PRAD-UK 3 167219877 167219877 single base substitution G A intron_variant PRAD-UK 3 167221722 167221722 single base substitution T G intron_variant PRAD-UK 3 167223499 167223499 single base substitution T A intron_variant PRAD-UK 3 167224004 167224004 single base substitution A G intron_variant PRAD-UK 3 167224016 167224016 single base substitution A G intron_variant PRAD-UK 3 167225343 167225343 single base substitution G T intron_variant PRAD-UK 3 167234315 167234315 single base substitution C T intron_variant PRAD-UK 3 167245010 167245010 single base substitution C T intron_variant PRAD-UK 3 167251662 167251662 deletion of <=200bp T - intron_variant PRAD-UK 3 167251662 167251662 deletion of <=200bp T - upstream_gene_variant PRAD-UK 3 167255106 167255106 single base substitution T C intron_variant PRAD-UK 3 167258911 167258911 single base substitution T A intron_variant PRAD-UK 3 167269369 167269369 single base substitution G T downstream_gene_variant PRAD-UK 3 167269369 167269369 single base substitution G T intron_variant PRAD-UK 3 167273795 167273795 single base substitution G A intron_variant PRAD-UK 3 167274345 167274345 single base substitution C T intron_variant PRAD-UK 3 167275502 167275502 single base substitution C A intron_variant PRAD-UK 3 167284656 167284656 single base substitution A G 5_prime_UTR_variant PRAD-UK 3 167284656 167284656 single base substitution A G intron_variant PRAD-UK 3 167284656 167284656 single base substitution A G synonymous_variant N512N 1536T>C PRAD-UK 3 167296362 167296362 single base substitution A T intron_variant PRAD-UK 3 167296362 167296362 single base substitution A T upstream_gene_variant PRAD-UK 3 167297096 167297096 single base substitution G A intron_variant PRAD-UK 3 167297096 167297096 single base substitution G A upstream_gene_variant PRAD-UK 3 167301164 167301164 single base substitution C T intron_variant PRAD-UK 3 167302059 167302059 single base substitution G T intron_variant PRAD-UK 3 167303471 167303471 single base substitution G C intron_variant PRAD-UK 3 167304987 167304987 single base substitution C T intron_variant PRAD-UK 3 167305028 167305028 single base substitution C A intron_variant PRAD-UK 3 167311973 167311973 single base substitution C T intron_variant PRAD-UK 3 167312177 167312177 single base substitution C T intron_variant PRAD-UK 3 167314560 167314560 single base substitution A G intron_variant PRAD-UK 3 167315126 167315126 single base substitution C T intron_variant PRAD-UK 3 167316629 167316629 single base substitution A G intron_variant PRAD-UK 3 167323810 167323810 single base substitution C G intron_variant PRAD-UK 3 167329009 167329009 single base substitution T G intron_variant PRAD-UK 3 167329441 167329441 single base substitution G A intron_variant PRAD-UK 3 167353753 167353753 single base substitution A T intron_variant PRAD-UK 3 167358941 167358941 single base substitution T G intron_variant PRAD-UK 3 167369946 167369946 single base substitution G T intron_variant PRAD-UK 3 167370907 167370907 single base substitution C T intron_variant PRAD-UK 3 167371335 167371335 single base substitution C A intron_variant PRAD-UK 3 167371335 167371335 single base substitution C A upstream_gene_variant PRAD-US 3 167217986 167217986 single base substitution C A intron_variant PRAD-US 3 167217986 167217986 single base substitution C A stop_gained E469* 1405G>T PRAD-US 3 167217986 167217986 single base substitution C A stop_gained E609* 1825G>T PRAD-US 3 167217986 167217986 single base substitution C A stop_gained E620* 1858G>T PRAD-US 3 167217986 167217986 single base substitution C A stop_gained E644* 1930G>T PRAD-US 3 167277926 167277926 single base substitution C T intron_variant PRAD-US 3 167277926 167277926 single base substitution C T missense_variant A18T 52G>A PRAD-US 3 167277926 167277926 single base substitution C T missense_variant A193T 577G>A PRAD-US 3 167277926 167277926 single base substitution C T missense_variant A246T 736G>A PRAD-US 3 167277926 167277926 single base substitution C T missense_variant A257T 769G>A PRAD-US 3 167277926 167277926 single base substitution C T missense_variant A86T 256G>A PRAD-US 3 167319938 167319938 single base substitution G T 3_prime_UTR_variant PRAD-US 3 167319938 167319938 single base substitution G T intron_variant PRAD-US 3 167319938 167319938 single base substitution G T missense_variant L130I 388C>A PRAD-US 3 167319938 167319938 single base substitution G T missense_variant L141I 421C>A PRAD-US 3 167319938 167319938 single base substitution G T missense_variant L418I 1252C>A PRAD-US 3 167319938 167319938 single base substitution G T missense_variant L77I 229C>A READ-US 3 167196668 167196668 single base substitution A C 3_prime_UTR_variant READ-US 3 167196668 167196668 single base substitution A C stop_lost *523E 1567T>G READ-US 3 167196668 167196668 single base substitution A C stop_lost *663E 1987T>G READ-US 3 167196668 167196668 single base substitution A C stop_lost *674E 2020T>G READ-US 3 167196668 167196668 single base substitution A C stop_lost *698E 2092T>G READ-US 3 167245638 167245638 single base substitution G T intron_variant READ-US 3 167245638 167245638 single base substitution G T synonymous_variant V331V 993C>A READ-US 3 167245638 167245638 single base substitution G T synonymous_variant V506V 1518C>A READ-US 3 167248970 167248970 single base substitution G A downstream_gene_variant READ-US 3 167248970 167248970 single base substitution G A intron_variant READ-US 3 167248970 167248970 single base substitution G A synonymous_variant D190D 570C>T READ-US 3 167248970 167248970 single base substitution G A synonymous_variant D2D 6C>T READ-US 3 167248970 167248970 single base substitution G A synonymous_variant D365D 1095C>T READ-US 3 167248970 167248970 single base substitution G A synonymous_variant D429D 1287C>T READ-US 3 167248970 167248970 single base substitution G A synonymous_variant D440D 1320C>T RECA-EU 3 167195347 167195347 single base substitution A T downstream_gene_variant RECA-EU 3 167196023 167196023 single base substitution G A downstream_gene_variant RECA-EU 3 167209629 167209629 single base substitution G A intron_variant RECA-EU 3 167224669 167224669 single base substitution T C intron_variant RECA-EU 3 167228774 167228774 single base substitution T G intron_variant RECA-EU 3 167232463 167232463 single base substitution C A intron_variant RECA-EU 3 167238857 167238857 single base substitution G C downstream_gene_variant RECA-EU 3 167238857 167238857 single base substitution G C intron_variant RECA-EU 3 167238859 167238859 single base substitution A T downstream_gene_variant RECA-EU 3 167238859 167238859 single base substitution A T intron_variant RECA-EU 3 167238885 167238885 single base substitution A T downstream_gene_variant RECA-EU 3 167238885 167238885 single base substitution A T intron_variant RECA-EU 3 167244693 167244693 single base substitution T A intron_variant RECA-EU 3 167248584 167248584 single base substitution T A downstream_gene_variant RECA-EU 3 167248584 167248584 single base substitution T A intron_variant RECA-EU 3 167250956 167250956 single base substitution C A intron_variant RECA-EU 3 167250956 167250956 single base substitution C A upstream_gene_variant RECA-EU 3 167258055 167258055 single base substitution G T intron_variant RECA-EU 3 167260693 167260693 single base substitution C G intron_variant RECA-EU 3 167266186 167266186 single base substitution G A intron_variant RECA-EU 3 167267802 167267802 single base substitution T C downstream_gene_variant RECA-EU 3 167267802 167267802 single base substitution T C intron_variant RECA-EU 3 167269153 167269153 single base substitution A G downstream_gene_variant RECA-EU 3 167269153 167269153 single base substitution A G intron_variant RECA-EU 3 167284955 167284955 single base substitution T A intron_variant RECA-EU 3 167287305 167287305 single base substitution G T intron_variant RECA-EU 3 167290351 167290351 single base substitution G A intron_variant RECA-EU 3 167300438 167300438 single base substitution T C intron_variant RECA-EU 3 167304415 167304415 single base substitution A G intron_variant RECA-EU 3 167316236 167316236 single base substitution G A intron_variant RECA-EU 3 167332655 167332655 single base substitution C A intron_variant RECA-EU 3 167342675 167342675 single base substitution T A downstream_gene_variant RECA-EU 3 167342675 167342675 single base substitution T A intron_variant RECA-EU 3 167342675 167342675 single base substitution T A upstream_gene_variant RECA-EU 3 167342894 167342894 single base substitution T A downstream_gene_variant RECA-EU 3 167342894 167342894 single base substitution T A intron_variant RECA-EU 3 167342894 167342894 single base substitution T A upstream_gene_variant RECA-EU 3 167344622 167344622 single base substitution T C downstream_gene_variant RECA-EU 3 167344622 167344622 single base substitution T C intron_variant RECA-EU 3 167346825 167346825 single base substitution G A intron_variant RECA-EU 3 167347988 167347988 single base substitution G A intron_variant RECA-EU 3 167348034 167348034 single base substitution C G intron_variant RECA-EU 3 167351013 167351013 single base substitution G A intron_variant RECA-EU 3 167355193 167355193 single base substitution A G intron_variant RECA-EU 3 167356406 167356406 single base substitution T A intron_variant RECA-EU 3 167358534 167358534 single base substitution A G intron_variant RECA-EU 3 167362452 167362452 single base substitution G T intron_variant RECA-EU 3 167363484 167363484 single base substitution G T intron_variant RECA-EU 3 167368228 167368228 single base substitution A T intron_variant RECA-EU 3 167373805 167373805 single base substitution G A upstream_gene_variant SKCA-BR 3 167191530 167191530 single base substitution C T downstream_gene_variant SKCA-BR 3 167192596 167192596 single base substitution A T downstream_gene_variant SKCA-BR 3 167192818 167192818 single base substitution C T downstream_gene_variant SKCA-BR 3 167192929 167192929 single base substitution C T downstream_gene_variant SKCA-BR 3 167193161 167193161 single base substitution C A downstream_gene_variant SKCA-BR 3 167195439 167195439 single base substitution C T downstream_gene_variant SKCA-BR 3 167195512 167195512 single base substitution C T downstream_gene_variant SKCA-BR 3 167195625 167195625 single base substitution A T downstream_gene_variant SKCA-BR 3 167195998 167195998 single base substitution C T downstream_gene_variant SKCA-BR 3 167196650 167196650 single base substitution G A 3_prime_UTR_variant SKCA-BR 3 167197064 167197064 single base substitution C T intron_variant SKCA-BR 3 167197181 167197181 single base substitution G A intron_variant SKCA-BR 3 167197512 167197512 single base substitution G A intron_variant SKCA-BR 3 167198597 167198597 single base substitution G A intron_variant SKCA-BR 3 167198615 167198615 single base substitution G A intron_variant SKCA-BR 3 167198913 167198913 single base substitution T C intron_variant SKCA-BR 3 167199194 167199194 single base substitution G A intron_variant SKCA-BR 3 167199202 167199202 single base substitution C T intron_variant SKCA-BR 3 167199626 167199626 single base substitution C T intron_variant SKCA-BR 3 167199663 167199663 single base substitution G A intron_variant SKCA-BR 3 167200084 167200084 single base substitution C T intron_variant SKCA-BR 3 167200293 167200293 insertion of <=200bp - TA intron_variant SKCA-BR 3 167201226 167201226 single base substitution C T intron_variant SKCA-BR 3 167202828 167202828 single base substitution G A intron_variant SKCA-BR 3 167203938 167203938 single base substitution A G intron_variant SKCA-BR 3 167204245 167204245 single base substitution G A intron_variant SKCA-BR 3 167205279 167205279 single base substitution C T intron_variant SKCA-BR 3 167205388 167205388 single base substitution G A intron_variant SKCA-BR 3 167206051 167206051 single base substitution G A intron_variant SKCA-BR 3 167206449 167206449 single base substitution C T intron_variant SKCA-BR 3 167207256 167207256 single base substitution C T intron_variant SKCA-BR 3 167207743 167207743 single base substitution C T intron_variant SKCA-BR 3 167207744 167207744 single base substitution C T intron_variant SKCA-BR 3 167208824 167208824 single base substitution C T intron_variant SKCA-BR 3 167208923 167208923 single base substitution C T intron_variant SKCA-BR 3 167208991 167208991 single base substitution C A intron_variant SKCA-BR 3 167209720 167209720 single base substitution G A intron_variant SKCA-BR 3 167210000 167210000 single base substitution G A intron_variant SKCA-BR 3 167210001 167210001 single base substitution G A intron_variant SKCA-BR 3 167210006 167210006 single base substitution G A intron_variant SKCA-BR 3 167210057 167210057 single base substitution G C intron_variant SKCA-BR 3 167210455 167210455 single base substitution G A intron_variant SKCA-BR 3 167211009 167211009 single base substitution C T intron_variant SKCA-BR 3 167211664 167211664 single base substitution C T intron_variant SKCA-BR 3 167212370 167212370 single base substitution G C intron_variant SKCA-BR 3 167212610 167212610 single base substitution G A intron_variant SKCA-BR 3 167212917 167212917 single base substitution G A intron_variant SKCA-BR 3 167213046 167213046 single base substitution G A intron_variant SKCA-BR 3 167213047 167213047 single base substitution G A intron_variant SKCA-BR 3 167213486 167213486 single base substitution T C intron_variant SKCA-BR 3 167213813 167213813 single base substitution G A intron_variant SKCA-BR 3 167214974 167214974 single base substitution C T intron_variant SKCA-BR 3 167215935 167215935 single base substitution C T intron_variant SKCA-BR 3 167216202 167216202 single base substitution C T intron_variant SKCA-BR 3 167216215 167216215 single base substitution G A intron_variant SKCA-BR 3 167217109 167217109 single base substitution G A intron_variant SKCA-BR 3 167217465 167217465 single base substitution G A intron_variant SKCA-BR 3 167217727 167217727 single base substitution A T intron_variant SKCA-BR 3 167218163 167218163 single base substitution C T intron_variant SKCA-BR 3 167218543 167218543 single base substitution T C intron_variant SKCA-BR 3 167218764 167218764 single base substitution C T intron_variant SKCA-BR 3 167218900 167218900 single base substitution G A intron_variant SKCA-BR 3 167219313 167219313 single base substitution G A intron_variant SKCA-BR 3 167219405 167219405 single base substitution C T intron_variant SKCA-BR 3 167219904 167219904 single base substitution C A intron_variant SKCA-BR 3 167220782 167220782 single base substitution G A intron_variant SKCA-BR 3 167221184 167221184 single base substitution G A intron_variant SKCA-BR 3 167221371 167221371 single base substitution C T intron_variant SKCA-BR 3 167223221 167223221 single base substitution C T intron_variant SKCA-BR 3 167223564 167223564 single base substitution C A intron_variant SKCA-BR 3 167224110 167224110 single base substitution G A intron_variant SKCA-BR 3 167224536 167224536 single base substitution G A intron_variant SKCA-BR 3 167224647 167224647 single base substitution G A intron_variant SKCA-BR 3 167224890 167224890 single base substitution C T intron_variant SKCA-BR 3 167225073 167225073 single base substitution C T intron_variant SKCA-BR 3 167225583 167225583 single base substitution G A intron_variant SKCA-BR 3 167226184 167226184 single base substitution C T intron_variant SKCA-BR 3 167226422 167226422 single base substitution G A intron_variant SKCA-BR 3 167228125 167228125 single base substitution T G intron_variant SKCA-BR 3 167228717 167228717 single base substitution T A intron_variant SKCA-BR 3 167228738 167228738 single base substitution C T intron_variant SKCA-BR 3 167228809 167228809 single base substitution C T intron_variant SKCA-BR 3 167229765 167229765 single base substitution G A intron_variant SKCA-BR 3 167229857 167229857 single base substitution C T intron_variant SKCA-BR 3 167230313 167230313 single base substitution G A intron_variant SKCA-BR 3 167230376 167230376 single base substitution G A intron_variant SKCA-BR 3 167230723 167230723 single base substitution C T intron_variant SKCA-BR 3 167230910 167230910 single base substitution G A intron_variant SKCA-BR 3 167230965 167230965 single base substitution G A intron_variant SKCA-BR 3 167231265 167231265 single base substitution G A intron_variant SKCA-BR 3 167231371 167231371 single base substitution G A intron_variant SKCA-BR 3 167231381 167231381 single base substitution C T intron_variant SKCA-BR 3 167232611 167232611 single base substitution G A intron_variant SKCA-BR 3 167233386 167233386 single base substitution C T intron_variant SKCA-BR 3 167233426 167233426 single base substitution G A intron_variant SKCA-BR 3 167233550 167233550 single base substitution C T intron_variant SKCA-BR 3 167233604 167233604 single base substitution C T intron_variant SKCA-BR 3 167233674 167233674 single base substitution C T intron_variant SKCA-BR 3 167233798 167233798 single base substitution C T intron_variant SKCA-BR 3 167234858 167234858 single base substitution G A intron_variant SKCA-BR 3 167235524 167235524 single base substitution T A downstream_gene_variant SKCA-BR 3 167235524 167235524 single base substitution T A intron_variant SKCA-BR 3 167236639 167236639 single base substitution G A downstream_gene_variant SKCA-BR 3 167236639 167236639 single base substitution G A intron_variant SKCA-BR 3 167236640 167236640 single base substitution G A downstream_gene_variant SKCA-BR 3 167236640 167236640 single base substitution G A intron_variant SKCA-BR 3 167236724 167236724 single base substitution A T downstream_gene_variant SKCA-BR 3 167236724 167236724 single base substitution A T intron_variant SKCA-BR 3 167236806 167236806 single base substitution G A downstream_gene_variant SKCA-BR 3 167236806 167236806 single base substitution G A intron_variant SKCA-BR 3 167237411 167237411 single base substitution G A downstream_gene_variant SKCA-BR 3 167237411 167237411 single base substitution G A intron_variant SKCA-BR 3 167238252 167238252 single base substitution C T downstream_gene_variant SKCA-BR 3 167238252 167238252 single base substitution C T intron_variant SKCA-BR 3 167238383 167238383 single base substitution G A downstream_gene_variant SKCA-BR 3 167238383 167238383 single base substitution G A intron_variant SKCA-BR 3 167239104 167239104 single base substitution C T downstream_gene_variant SKCA-BR 3 167239104 167239104 single base substitution C T intron_variant SKCA-BR 3 167239614 167239614 single base substitution G A downstream_gene_variant SKCA-BR 3 167239614 167239614 single base substitution G A intron_variant SKCA-BR 3 167239719 167239719 single base substitution C T downstream_gene_variant SKCA-BR 3 167239719 167239719 single base substitution C T intron_variant SKCA-BR 3 167239737 167239737 single base substitution C T downstream_gene_variant SKCA-BR 3 167239737 167239737 single base substitution C T intron_variant SKCA-BR 3 167239986 167239986 single base substitution G A downstream_gene_variant SKCA-BR 3 167239986 167239986 single base substitution G A intron_variant SKCA-BR 3 167242001 167242001 single base substitution C T intron_variant SKCA-BR 3 167242006 167242006 single base substitution C T intron_variant SKCA-BR 3 167242316 167242316 single base substitution T C intron_variant SKCA-BR 3 167242628 167242628 single base substitution G A intron_variant SKCA-BR 3 167242692 167242692 single base substitution C T intron_variant SKCA-BR 3 167242972 167242972 single base substitution C T intron_variant SKCA-BR 3 167243192 167243192 single base substitution C T intron_variant SKCA-BR 3 167243317 167243317 single base substitution C T intron_variant SKCA-BR 3 167243612 167243612 single base substitution T C intron_variant SKCA-BR 3 167244477 167244477 single base substitution C T intron_variant SKCA-BR 3 167244709 167244709 single base substitution C T intron_variant SKCA-BR 3 167244807 167244807 single base substitution G A intron_variant SKCA-BR 3 167244850 167244850 single base substitution C T intron_variant SKCA-BR 3 167244966 167244966 single base substitution G A intron_variant SKCA-BR 3 167245053 167245053 single base substitution C T intron_variant SKCA-BR 3 167246892 167246892 single base substitution C T downstream_gene_variant SKCA-BR 3 167246892 167246892 single base substitution C T intron_variant SKCA-BR 3 167246892 167246892 single base substitution C T missense_variant R258Q 773G>A SKCA-BR 3 167246892 167246892 single base substitution C T missense_variant R433Q 1298G>A SKCA-BR 3 167246892 167246892 single base substitution C T missense_variant R497Q 1490G>A SKCA-BR 3 167246892 167246892 single base substitution C T missense_variant R508Q 1523G>A SKCA-BR 3 167246892 167246892 single base substitution C T missense_variant R70Q 209G>A SKCA-BR 3 167247106 167247106 single base substitution G A downstream_gene_variant SKCA-BR 3 167247106 167247106 single base substitution G A intron_variant SKCA-BR 3 167247107 167247107 single base substitution G A downstream_gene_variant SKCA-BR 3 167247107 167247107 single base substitution G A intron_variant SKCA-BR 3 167248749 167248749 single base substitution C T downstream_gene_variant SKCA-BR 3 167248749 167248749 single base substitution C T intron_variant SKCA-BR 3 167249040 167249040 single base substitution G A downstream_gene_variant SKCA-BR 3 167249040 167249040 single base substitution G A intron_variant SKCA-BR 3 167249040 167249040 single base substitution G A missense_variant A167V 500C>T SKCA-BR 3 167249040 167249040 single base substitution G A missense_variant A342V 1025C>T SKCA-BR 3 167249040 167249040 single base substitution G A missense_variant A406V 1217C>T SKCA-BR 3 167249040 167249040 single base substitution G A missense_variant A417V 1250C>T SKCA-BR 3 167249040 167249040 single base substitution G A upstream_gene_variant SKCA-BR 3 167250411 167250411 single base substitution C T downstream_gene_variant SKCA-BR 3 167250411 167250411 single base substitution C T intron_variant SKCA-BR 3 167250411 167250411 single base substitution C T upstream_gene_variant SKCA-BR 3 167250722 167250722 single base substitution C T 3_prime_UTR_variant SKCA-BR 3 167250722 167250722 single base substitution C T intron_variant SKCA-BR 3 167250722 167250722 single base substitution C T synonymous_variant E139E 417G>A SKCA-BR 3 167250722 167250722 single base substitution C T synonymous_variant E314E 942G>A SKCA-BR 3 167250722 167250722 single base substitution C T synonymous_variant E378E 1134G>A SKCA-BR 3 167250722 167250722 single base substitution C T synonymous_variant E389E 1167G>A SKCA-BR 3 167250722 167250722 single base substitution C T upstream_gene_variant SKCA-BR 3 167250801 167250801 single base substitution G A intron_variant SKCA-BR 3 167250801 167250801 single base substitution G A upstream_gene_variant SKCA-BR 3 167251821 167251822 deletion of <=200bp CA - intron_variant SKCA-BR 3 167251821 167251822 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 3 167252566 167252566 single base substitution T A intron_variant SKCA-BR 3 167252566 167252566 single base substitution T A upstream_gene_variant SKCA-BR 3 167252652 167252652 single base substitution C T intron_variant SKCA-BR 3 167252652 167252652 single base substitution C T upstream_gene_variant SKCA-BR 3 167254538 167254538 single base substitution C A intron_variant SKCA-BR 3 167254560 167254560 single base substitution A T intron_variant SKCA-BR 3 167255055 167255055 single base substitution C T intron_variant SKCA-BR 3 167256252 167256252 single base substitution C T intron_variant SKCA-BR 3 167256695 167256695 single base substitution C T intron_variant SKCA-BR 3 167256941 167256941 single base substitution G A intron_variant SKCA-BR 3 167257149 167257149 single base substitution G A intron_variant SKCA-BR 3 167257531 167257531 single base substitution C G intron_variant SKCA-BR 3 167258271 167258271 single base substitution G A intron_variant SKCA-BR 3 167258352 167258352 single base substitution C T intron_variant SKCA-BR 3 167258585 167258585 single base substitution T C intron_variant SKCA-BR 3 167258905 167258905 single base substitution G A intron_variant SKCA-BR 3 167258920 167258920 single base substitution G A intron_variant SKCA-BR 3 167259003 167259003 single base substitution C T intron_variant SKCA-BR 3 167259068 167259068 single base substitution A G intron_variant SKCA-BR 3 167259112 167259112 single base substitution G A intron_variant SKCA-BR 3 167259152 167259152 single base substitution C T intron_variant SKCA-BR 3 167259325 167259325 single base substitution G A intron_variant SKCA-BR 3 167259698 167259698 single base substitution C T intron_variant SKCA-BR 3 167259899 167259899 single base substitution C T intron_variant SKCA-BR 3 167260270 167260270 single base substitution G A intron_variant SKCA-BR 3 167260593 167260593 single base substitution G A intron_variant SKCA-BR 3 167260971 167260971 single base substitution G A intron_variant SKCA-BR 3 167261109 167261109 single base substitution G A intron_variant SKCA-BR 3 167261624 167261624 single base substitution G A intron_variant SKCA-BR 3 167261853 167261853 insertion of <=200bp - CA intron_variant SKCA-BR 3 167261949 167261949 single base substitution C T intron_variant SKCA-BR 3 167262677 167262677 single base substitution C T intron_variant SKCA-BR 3 167263241 167263241 single base substitution C T intron_variant SKCA-BR 3 167263283 167263283 insertion of <=200bp - TA intron_variant SKCA-BR 3 167263290 167263290 insertion of <=200bp - TA intron_variant SKCA-BR 3 167263297 167263297 insertion of <=200bp - TA intron_variant SKCA-BR 3 167263297 167263297 insertion of <=200bp - TATATATATATATATATATA intron_variant SKCA-BR 3 167263473 167263473 single base substitution G A intron_variant SKCA-BR 3 167264479 167264480 deletion of <=200bp CA - intron_variant SKCA-BR 3 167266439 167266439 single base substitution G A intron_variant SKCA-BR 3 167266969 167266969 single base substitution G A intron_variant SKCA-BR 3 167267250 167267250 single base substitution C T intron_variant SKCA-BR 3 167267736 167267736 single base substitution G A downstream_gene_variant SKCA-BR 3 167267736 167267736 single base substitution G A intron_variant SKCA-BR 3 167267754 167267754 single base substitution C T downstream_gene_variant SKCA-BR 3 167267754 167267754 single base substitution C T intron_variant SKCA-BR 3 167268146 167268146 single base substitution C T downstream_gene_variant SKCA-BR 3 167268146 167268146 single base substitution C T intron_variant SKCA-BR 3 167269354 167269354 single base substitution G A downstream_gene_variant SKCA-BR 3 167269354 167269354 single base substitution G A intron_variant SKCA-BR 3 167269474 167269474 single base substitution G A downstream_gene_variant SKCA-BR 3 167269474 167269474 single base substitution G A intron_variant SKCA-BR 3 167270171 167270171 single base substitution G A downstream_gene_variant SKCA-BR 3 167270171 167270171 single base substitution G A intron_variant SKCA-BR 3 167270794 167270794 single base substitution G A downstream_gene_variant SKCA-BR 3 167270794 167270794 single base substitution G A intron_variant SKCA-BR 3 167271087 167271087 single base substitution C T downstream_gene_variant SKCA-BR 3 167271087 167271087 single base substitution C T intron_variant SKCA-BR 3 167271219 167271219 single base substitution C T downstream_gene_variant SKCA-BR 3 167271219 167271219 single base substitution C T intron_variant SKCA-BR 3 167271292 167271292 single base substitution G A downstream_gene_variant SKCA-BR 3 167271292 167271292 single base substitution G A intron_variant SKCA-BR 3 167271686 167271686 single base substitution C T downstream_gene_variant SKCA-BR 3 167271686 167271686 single base substitution C T intron_variant SKCA-BR 3 167272021 167272021 single base substitution G A downstream_gene_variant SKCA-BR 3 167272021 167272021 single base substitution G A intron_variant SKCA-BR 3 167272105 167272105 single base substitution C A downstream_gene_variant SKCA-BR 3 167272105 167272105 single base substitution C A intron_variant SKCA-BR 3 167272923 167272923 single base substitution C T intron_variant SKCA-BR 3 167273227 167273227 single base substitution C T intron_variant SKCA-BR 3 167273234 167273234 single base substitution C T intron_variant SKCA-BR 3 167274216 167274216 single base substitution G A intron_variant SKCA-BR 3 167274767 167274767 single base substitution C T intron_variant SKCA-BR 3 167275468 167275468 single base substitution G A intron_variant SKCA-BR 3 167277180 167277180 single base substitution A C intron_variant SKCA-BR 3 167277405 167277405 single base substitution G A intron_variant SKCA-BR 3 167278950 167278950 single base substitution C T intron_variant SKCA-BR 3 167279343 167279343 single base substitution G A intron_variant SKCA-BR 3 167280308 167280308 single base substitution G A intron_variant SKCA-BR 3 167282142 167282142 single base substitution T C intron_variant SKCA-BR 3 167282177 167282177 single base substitution G A intron_variant SKCA-BR 3 167282472 167282472 single base substitution C T intron_variant SKCA-BR 3 167283279 167283279 single base substitution G A intron_variant SKCA-BR 3 167283280 167283280 single base substitution G A intron_variant SKCA-BR 3 167285179 167285179 single base substitution C T intron_variant SKCA-BR 3 167287899 167287899 single base substitution A T intron_variant SKCA-BR 3 167288336 167288336 single base substitution G T intron_variant SKCA-BR 3 167288645 167288645 single base substitution G A intron_variant SKCA-BR 3 167288812 167288813 deletion of <=200bp CA - intron_variant SKCA-BR 3 167289010 167289010 single base substitution C T intron_variant SKCA-BR 3 167289056 167289056 single base substitution G A intron_variant SKCA-BR 3 167289842 167289842 single base substitution G A intron_variant SKCA-BR 3 167290038 167290038 single base substitution G A intron_variant SKCA-BR 3 167290043 167290043 single base substitution C T intron_variant SKCA-BR 3 167291179 167291179 insertion of <=200bp - TACAC intron_variant SKCA-BR 3 167291249 167291249 single base substitution T C intron_variant SKCA-BR 3 167291679 167291679 single base substitution G T intron_variant SKCA-BR 3 167291851 167291851 single base substitution T C intron_variant SKCA-BR 3 167292249 167292249 single base substitution G A intron_variant SKCA-BR 3 167294961 167294961 single base substitution C T intron_variant SKCA-BR 3 167294961 167294961 single base substitution C T upstream_gene_variant SKCA-BR 3 167296711 167296711 single base substitution C T intron_variant SKCA-BR 3 167296711 167296711 single base substitution C T upstream_gene_variant SKCA-BR 3 167296884 167296884 single base substitution C T intron_variant SKCA-BR 3 167296884 167296884 single base substitution C T upstream_gene_variant SKCA-BR 3 167297354 167297354 single base substitution C T intron_variant SKCA-BR 3 167297354 167297354 single base substitution C T upstream_gene_variant SKCA-BR 3 167297940 167297940 single base substitution C T intron_variant SKCA-BR 3 167297940 167297940 single base substitution C T upstream_gene_variant SKCA-BR 3 167298749 167298749 single base substitution C T intron_variant SKCA-BR 3 167298801 167298801 single base substitution A T intron_variant SKCA-BR 3 167298919 167298919 single base substitution G A intron_variant SKCA-BR 3 167299325 167299325 single base substitution G A intron_variant SKCA-BR 3 167299456 167299456 single base substitution G A intron_variant SKCA-BR 3 167300187 167300187 single base substitution C T intron_variant SKCA-BR 3 167300699 167300699 single base substitution C T intron_variant SKCA-BR 3 167301264 167301264 single base substitution T A intron_variant SKCA-BR 3 167301493 167301493 single base substitution C T intron_variant SKCA-BR 3 167303179 167303183 deletion of <=200bp CGTGT - intron_variant SKCA-BR 3 167304401 167304401 single base substitution C T intron_variant SKCA-BR 3 167305725 167305725 single base substitution C T intron_variant SKCA-BR 3 167306265 167306265 single base substitution G A intron_variant SKCA-BR 3 167307808 167307808 single base substitution G A intron_variant SKCA-BR 3 167307907 167307907 single base substitution G A intron_variant SKCA-BR 3 167308675 167308675 single base substitution C T intron_variant SKCA-BR 3 167309134 167309134 single base substitution G T intron_variant SKCA-BR 3 167309136 167309136 single base substitution T A intron_variant SKCA-BR 3 167309326 167309326 single base substitution C T intron_variant SKCA-BR 3 167309545 167309545 single base substitution C T intron_variant SKCA-BR 3 167309905 167309905 single base substitution C T intron_variant SKCA-BR 3 167310225 167310225 single base substitution C T intron_variant SKCA-BR 3 167310300 167310300 single base substitution G A intron_variant SKCA-BR 3 167310302 167310302 single base substitution A G intron_variant SKCA-BR 3 167310491 167310491 single base substitution G A intron_variant SKCA-BR 3 167310963 167310963 single base substitution C T intron_variant SKCA-BR 3 167311050 167311050 single base substitution C T intron_variant SKCA-BR 3 167311207 167311207 single base substitution C T intron_variant SKCA-BR 3 167311235 167311235 single base substitution G A intron_variant SKCA-BR 3 167311291 167311291 single base substitution C T intron_variant SKCA-BR 3 167311431 167311431 single base substitution C T intron_variant SKCA-BR 3 167311924 167311924 single base substitution C A intron_variant SKCA-BR 3 167312113 167312113 single base substitution G A intron_variant SKCA-BR 3 167312683 167312683 single base substitution G A intron_variant SKCA-BR 3 167312951 167312951 single base substitution G A intron_variant SKCA-BR 3 167313100 167313100 single base substitution C T intron_variant SKCA-BR 3 167314105 167314105 single base substitution C T intron_variant SKCA-BR 3 167314171 167314171 single base substitution G A intron_variant SKCA-BR 3 167314182 167314182 single base substitution C T intron_variant SKCA-BR 3 167314520 167314520 single base substitution A G intron_variant SKCA-BR 3 167314658 167314658 insertion of <=200bp - TAATAAATA intron_variant SKCA-BR 3 167314667 167314667 single base substitution A C intron_variant SKCA-BR 3 167314738 167314738 insertion of <=200bp - GA intron_variant SKCA-BR 3 167314906 167314906 single base substitution G A intron_variant SKCA-BR 3 167314910 167314910 single base substitution A C intron_variant SKCA-BR 3 167315055 167315055 single base substitution C T intron_variant SKCA-BR 3 167315238 167315238 single base substitution G A intron_variant SKCA-BR 3 167315506 167315506 single base substitution G A intron_variant SKCA-BR 3 167315853 167315853 single base substitution G T intron_variant SKCA-BR 3 167316020 167316020 single base substitution G A intron_variant SKCA-BR 3 167316420 167316420 single base substitution C T intron_variant SKCA-BR 3 167318440 167318440 single base substitution G A intron_variant SKCA-BR 3 167318866 167318866 single base substitution G A intron_variant SKCA-BR 3 167319708 167319708 single base substitution G A intron_variant SKCA-BR 3 167319920 167319920 single base substitution C T 3_prime_UTR_variant SKCA-BR 3 167319920 167319920 single base substitution C T intron_variant SKCA-BR 3 167319920 167319920 single base substitution C T missense_variant D136N 406G>A SKCA-BR 3 167319920 167319920 single base substitution C T missense_variant D147N 439G>A SKCA-BR 3 167319920 167319920 single base substitution C T missense_variant D424N 1270G>A SKCA-BR 3 167319920 167319920 single base substitution C T missense_variant D83N 247G>A SKCA-BR 3 167320025 167320025 single base substitution G A 3_prime_UTR_variant SKCA-BR 3 167320025 167320025 single base substitution G A intron_variant SKCA-BR 3 167320025 167320025 single base substitution G A missense_variant P101S 301C>T SKCA-BR 3 167320025 167320025 single base substitution G A missense_variant P112S 334C>T SKCA-BR 3 167320025 167320025 single base substitution G A missense_variant P389S 1165C>T SKCA-BR 3 167320025 167320025 single base substitution G A missense_variant P48S 142C>T SKCA-BR 3 167320275 167320275 single base substitution G A intron_variant SKCA-BR 3 167320548 167320548 single base substitution C T intron_variant SKCA-BR 3 167320962 167320962 single base substitution G A intron_variant SKCA-BR 3 167321620 167321620 single base substitution G A intron_variant SKCA-BR 3 167321851 167321852 deletion of <=200bp TA - intron_variant SKCA-BR 3 167322017 167322017 single base substitution C T intron_variant SKCA-BR 3 167322891 167322893 deletion of <=200bp TAC - intron_variant SKCA-BR 3 167322977 167322977 single base substitution G A intron_variant SKCA-BR 3 167323961 167323961 single base substitution C T intron_variant SKCA-BR 3 167324397 167324397 single base substitution G C intron_variant SKCA-BR 3 167325065 167325065 single base substitution G A intron_variant SKCA-BR 3 167326310 167326310 single base substitution A G intron_variant SKCA-BR 3 167326525 167326525 single base substitution G A intron_variant SKCA-BR 3 167327180 167327180 single base substitution G A intron_variant SKCA-BR 3 167327181 167327181 single base substitution G A intron_variant SKCA-BR 3 167327241 167327241 single base substitution G A intron_variant SKCA-BR 3 167327369 167327369 single base substitution C A intron_variant SKCA-BR 3 167327377 167327377 single base substitution A G intron_variant SKCA-BR 3 167327692 167327692 single base substitution G A intron_variant SKCA-BR 3 167328169 167328169 single base substitution G A intron_variant SKCA-BR 3 167329123 167329123 single base substitution G A intron_variant SKCA-BR 3 167330290 167330290 single base substitution G A intron_variant SKCA-BR 3 167331336 167331336 single base substitution G A intron_variant SKCA-BR 3 167332492 167332492 single base substitution C T intron_variant SKCA-BR 3 167332556 167332556 single base substitution G A intron_variant SKCA-BR 3 167332925 167332925 single base substitution C T intron_variant SKCA-BR 3 167333230 167333230 single base substitution T A intron_variant SKCA-BR 3 167333251 167333251 single base substitution G A intron_variant SKCA-BR 3 167333663 167333663 single base substitution C T intron_variant SKCA-BR 3 167333842 167333842 single base substitution G A intron_variant SKCA-BR 3 167335824 167335824 single base substitution C T downstream_gene_variant SKCA-BR 3 167335824 167335824 single base substitution C T intron_variant SKCA-BR 3 167336749 167336749 single base substitution G A downstream_gene_variant SKCA-BR 3 167336749 167336749 single base substitution G A intron_variant SKCA-BR 3 167337298 167337298 single base substitution G A downstream_gene_variant SKCA-BR 3 167337298 167337298 single base substitution G A intron_variant SKCA-BR 3 167337488 167337488 single base substitution C T downstream_gene_variant SKCA-BR 3 167337488 167337488 single base substitution C T intron_variant SKCA-BR 3 167337836 167337836 single base substitution G A downstream_gene_variant SKCA-BR 3 167337836 167337836 single base substitution G A intron_variant SKCA-BR 3 167338053 167338053 single base substitution T C downstream_gene_variant SKCA-BR 3 167338053 167338053 single base substitution T C intron_variant SKCA-BR 3 167338308 167338308 single base substitution C T downstream_gene_variant SKCA-BR 3 167338308 167338308 single base substitution C T intron_variant SKCA-BR 3 167338308 167338308 single base substitution C T missense_variant M12I 36G>A SKCA-BR 3 167338308 167338308 single base substitution C T missense_variant M289I 867G>A SKCA-BR 3 167338308 167338308 single base substitution C T start_lost M1I 3G>A SKCA-BR 3 167339321 167339321 single base substitution C T intron_variant SKCA-BR 3 167339321 167339321 single base substitution C T missense_variant M239I 717G>A SKCA-BR 3 167339321 167339321 single base substitution C T missense_variant M92I 276G>A SKCA-BR 3 167339321 167339321 single base substitution C T upstream_gene_variant SKCA-BR 3 167339479 167339479 single base substitution C A intron_variant SKCA-BR 3 167339479 167339479 single base substitution C A upstream_gene_variant SKCA-BR 3 167339699 167339699 single base substitution G A intron_variant SKCA-BR 3 167339699 167339699 single base substitution G A upstream_gene_variant SKCA-BR 3 167340008 167340008 single base substitution G A downstream_gene_variant SKCA-BR 3 167340008 167340008 single base substitution G A intron_variant SKCA-BR 3 167340008 167340008 single base substitution G A upstream_gene_variant SKCA-BR 3 167340793 167340793 single base substitution C T downstream_gene_variant SKCA-BR 3 167340793 167340793 single base substitution C T intron_variant SKCA-BR 3 167340793 167340793 single base substitution C T upstream_gene_variant SKCA-BR 3 167340901 167340901 single base substitution G A downstream_gene_variant SKCA-BR 3 167340901 167340901 single base substitution G A intron_variant SKCA-BR 3 167340901 167340901 single base substitution G A upstream_gene_variant SKCA-BR 3 167341488 167341488 single base substitution G A downstream_gene_variant SKCA-BR 3 167341488 167341488 single base substitution G A intron_variant SKCA-BR 3 167341488 167341488 single base substitution G A upstream_gene_variant SKCA-BR 3 167341712 167341712 single base substitution G A downstream_gene_variant SKCA-BR 3 167341712 167341712 single base substitution G A intron_variant SKCA-BR 3 167341712 167341712 single base substitution G A upstream_gene_variant SKCA-BR 3 167342481 167342481 single base substitution A G downstream_gene_variant SKCA-BR 3 167342481 167342481 single base substitution A G intron_variant SKCA-BR 3 167342481 167342481 single base substitution A G upstream_gene_variant SKCA-BR 3 167343804 167343804 single base substitution C T downstream_gene_variant SKCA-BR 3 167343804 167343804 single base substitution C T intron_variant SKCA-BR 3 167344966 167344966 single base substitution C T 3_prime_UTR_variant SKCA-BR 3 167344966 167344966 single base substitution C T intron_variant SKCA-BR 3 167344966 167344966 single base substitution C T missense_variant D94N 280G>A SKCA-BR 3 167345962 167345962 single base substitution C T intron_variant SKCA-BR 3 167346188 167346188 single base substitution G A intron_variant SKCA-BR 3 167346568 167346568 single base substitution G A intron_variant SKCA-BR 3 167347813 167347813 single base substitution G T intron_variant SKCA-BR 3 167347839 167347839 single base substitution C T intron_variant SKCA-BR 3 167347859 167347859 single base substitution C T intron_variant SKCA-BR 3 167347895 167347895 single base substitution C A intron_variant SKCA-BR 3 167350243 167350243 single base substitution A C intron_variant SKCA-BR 3 167351020 167351020 single base substitution G A intron_variant SKCA-BR 3 167352388 167352388 single base substitution C T intron_variant SKCA-BR 3 167353999 167353999 single base substitution G A intron_variant SKCA-BR 3 167354421 167354421 single base substitution C T intron_variant SKCA-BR 3 167354588 167354588 single base substitution A G intron_variant SKCA-BR 3 167354948 167354948 single base substitution G A intron_variant SKCA-BR 3 167355091 167355091 single base substitution A G intron_variant SKCA-BR 3 167355407 167355407 single base substitution C T intron_variant SKCA-BR 3 167355635 167355635 single base substitution G A intron_variant SKCA-BR 3 167355742 167355742 single base substitution C A intron_variant SKCA-BR 3 167356046 167356046 single base substitution G A intron_variant SKCA-BR 3 167356258 167356258 single base substitution C T intron_variant SKCA-BR 3 167356771 167356771 single base substitution G T intron_variant SKCA-BR 3 167356920 167356920 single base substitution G A intron_variant SKCA-BR 3 167357907 167357907 single base substitution G A intron_variant SKCA-BR 3 167358549 167358549 single base substitution C T intron_variant SKCA-BR 3 167358897 167358897 single base substitution G A intron_variant SKCA-BR 3 167360501 167360501 single base substitution G A intron_variant SKCA-BR 3 167360774 167360774 single base substitution C T intron_variant SKCA-BR 3 167361599 167361599 single base substitution G A intron_variant SKCA-BR 3 167361845 167361845 insertion of <=200bp - CT intron_variant SKCA-BR 3 167361845 167361846 deletion of <=200bp CT - intron_variant SKCA-BR 3 167362322 167362322 single base substitution A G intron_variant SKCA-BR 3 167363960 167363960 single base substitution C A intron_variant SKCA-BR 3 167364858 167364858 single base substitution A G intron_variant SKCA-BR 3 167365027 167365027 single base substitution G A intron_variant SKCA-BR 3 167365168 167365168 single base substitution G A intron_variant SKCA-BR 3 167365659 167365659 single base substitution C T intron_variant SKCA-BR 3 167365661 167365661 single base substitution C T intron_variant SKCA-BR 3 167366173 167366173 single base substitution A G intron_variant SKCA-BR 3 167366974 167366974 single base substitution T A intron_variant SKCA-BR 3 167369885 167369885 single base substitution G A intron_variant SKCA-BR 3 167371383 167371383 single base substitution T C intron_variant SKCA-BR 3 167371383 167371383 single base substitution T C upstream_gene_variant SKCA-BR 3 167371685 167371685 single base substitution A G 5_prime_UTR_variant SKCA-BR 3 167371685 167371685 single base substitution A G upstream_gene_variant SKCA-BR 3 167373701 167373701 single base substitution C T upstream_gene_variant SKCA-BR 3 167374218 167374218 single base substitution G A upstream_gene_variant SKCA-BR 3 167374588 167374588 single base substitution C T upstream_gene_variant SKCA-BR 3 167374610 167374610 single base substitution A C upstream_gene_variant SKCM-US 3 167196684 167196684 single base substitution C T 3_prime_UTR_variant SKCM-US 3 167196684 167196684 single base substitution C T synonymous_variant V517V 1551G>A SKCM-US 3 167196684 167196684 single base substitution C T synonymous_variant V657V 1971G>A SKCM-US 3 167196684 167196684 single base substitution C T synonymous_variant V668V 2004G>A SKCM-US 3 167196684 167196684 single base substitution C T synonymous_variant V692V 2076G>A SKCM-US 3 167196724 167196724 single base substitution C T 3_prime_UTR_variant SKCM-US 3 167196724 167196724 single base substitution C T missense_variant R504Q 1511G>A SKCM-US 3 167196724 167196724 single base substitution C T missense_variant R644Q 1931G>A SKCM-US 3 167196724 167196724 single base substitution C T missense_variant R655Q 1964G>A SKCM-US 3 167196724 167196724 single base substitution C T missense_variant R679Q 2036G>A SKCM-US 3 167196728 167196728 single base substitution C T 3_prime_UTR_variant SKCM-US 3 167196728 167196728 single base substitution C T missense_variant E503K 1507G>A SKCM-US 3 167196728 167196728 single base substitution C T missense_variant E643K 1927G>A SKCM-US 3 167196728 167196728 single base substitution C T missense_variant E654K 1960G>A SKCM-US 3 167196728 167196728 single base substitution C T missense_variant E678K 2032G>A SKCM-US 3 167196743 167196743 single base substitution C T 3_prime_UTR_variant SKCM-US 3 167196743 167196743 single base substitution C T missense_variant E498K 1492G>A SKCM-US 3 167196743 167196743 single base substitution C T missense_variant E638K 1912G>A SKCM-US 3 167196743 167196743 single base substitution C T missense_variant E649K 1945G>A SKCM-US 3 167196743 167196743 single base substitution C T missense_variant E673K 2017G>A SKCM-US 3 167217983 167217983 single base substitution C T intron_variant SKCM-US 3 167217983 167217983 single base substitution C T missense_variant E470K 1408G>A SKCM-US 3 167217983 167217983 single base substitution C T missense_variant E610K 1828G>A SKCM-US 3 167217983 167217983 single base substitution C T missense_variant E621K 1861G>A SKCM-US 3 167217983 167217983 single base substitution C T missense_variant E645K 1933G>A SKCM-US 3 167218000 167218000 single base substitution A T intron_variant SKCM-US 3 167218000 167218000 single base substitution A T missense_variant F464Y 1391T>A SKCM-US 3 167218000 167218000 single base substitution A T missense_variant F604Y 1811T>A SKCM-US 3 167218000 167218000 single base substitution A T missense_variant F615Y 1844T>A SKCM-US 3 167218000 167218000 single base substitution A T missense_variant F639Y 1916T>A SKCM-US 3 167218007 167218007 single base substitution T C intron_variant SKCM-US 3 167218007 167218007 single base substitution T C missense_variant K462E 1384A>G SKCM-US 3 167218007 167218007 single base substitution T C missense_variant K602E 1804A>G SKCM-US 3 167218007 167218007 single base substitution T C missense_variant K613E 1837A>G SKCM-US 3 167218007 167218007 single base substitution T C missense_variant K637E 1909A>G SKCM-US 3 167218038 167218038 single base substitution C T intron_variant SKCM-US 3 167218038 167218038 single base substitution C T synonymous_variant V451V 1353G>A SKCM-US 3 167218038 167218038 single base substitution C T synonymous_variant V591V 1773G>A SKCM-US 3 167218038 167218038 single base substitution C T synonymous_variant V602V 1806G>A SKCM-US 3 167218038 167218038 single base substitution C T synonymous_variant V626V 1878G>A SKCM-US 3 167223161 167223161 single base substitution C T intron_variant SKCM-US 3 167223161 167223161 single base substitution C T missense_variant E413K 1237G>A SKCM-US 3 167223161 167223161 single base substitution C T missense_variant E553K 1657G>A SKCM-US 3 167223161 167223161 single base substitution C T missense_variant E564K 1690G>A SKCM-US 3 167223161 167223161 single base substitution C T missense_variant E588K 1762G>A SKCM-US 3 167240187 167240187 single base substitution G A intron_variant SKCM-US 3 167240187 167240187 single base substitution G A missense_variant S116F 347C>T SKCM-US 3 167240187 167240187 single base substitution G A missense_variant S370F 1109C>T SKCM-US 3 167240187 167240187 single base substitution G A missense_variant S545F 1634C>T SKCM-US 3 167240194 167240194 single base substitution C T intron_variant SKCM-US 3 167240194 167240194 single base substitution C T missense_variant E114K 340G>A SKCM-US 3 167240194 167240194 single base substitution C T missense_variant E368K 1102G>A SKCM-US 3 167240194 167240194 single base substitution C T missense_variant E543K 1627G>A SKCM-US 3 167240235 167240235 single base substitution G A intron_variant SKCM-US 3 167240235 167240235 single base substitution G A missense_variant P100L 299C>T SKCM-US 3 167240235 167240235 single base substitution G A missense_variant P354L 1061C>T SKCM-US 3 167240235 167240235 single base substitution G A missense_variant P529L 1586C>T SKCM-US 3 167240236 167240236 single base substitution G A intron_variant SKCM-US 3 167240236 167240236 single base substitution G A missense_variant P100S 298C>T SKCM-US 3 167240236 167240236 single base substitution G A missense_variant P354S 1060C>T SKCM-US 3 167240236 167240236 single base substitution G A missense_variant P529S 1585C>T SKCM-US 3 167240254 167240254 single base substitution C T intron_variant SKCM-US 3 167240254 167240254 single base substitution C T missense_variant E348K 1042G>A SKCM-US 3 167240254 167240254 single base substitution C T missense_variant E523K 1567G>A SKCM-US 3 167240254 167240254 single base substitution C T missense_variant E94K 280G>A SKCM-US 3 167245717 167245717 single base substitution G A downstream_gene_variant SKCM-US 3 167245717 167245717 single base substitution G A intron_variant SKCM-US 3 167245717 167245717 single base substitution G A missense_variant S305F 914C>T SKCM-US 3 167245717 167245717 single base substitution G A missense_variant S480F 1439C>T SKCM-US 3 167245747 167245747 single base substitution G A downstream_gene_variant SKCM-US 3 167245747 167245747 single base substitution G A intron_variant SKCM-US 3 167245747 167245747 single base substitution G A missense_variant S295L 884C>T SKCM-US 3 167245747 167245747 single base substitution G A missense_variant S470L 1409C>T SKCM-US 3 167245757 167245757 single base substitution G C downstream_gene_variant SKCM-US 3 167245757 167245757 single base substitution G C intron_variant SKCM-US 3 167245757 167245757 single base substitution G C missense_variant L292V 874C>G SKCM-US 3 167245757 167245757 single base substitution G C missense_variant L467V 1399C>G SKCM-US 3 167245759 167245759 single base substitution G A downstream_gene_variant SKCM-US 3 167245759 167245759 single base substitution G A intron_variant SKCM-US 3 167245759 167245759 single base substitution G A missense_variant T291I 872C>T SKCM-US 3 167245759 167245759 single base substitution G A missense_variant T466I 1397C>T SKCM-US 3 167245760 167245760 single base substitution T C downstream_gene_variant SKCM-US 3 167245760 167245760 single base substitution T C intron_variant SKCM-US 3 167245760 167245760 single base substitution T C missense_variant T291A 871A>G SKCM-US 3 167245760 167245760 single base substitution T C missense_variant T466A 1396A>G SKCM-US 3 167245782 167245782 single base substitution C T downstream_gene_variant SKCM-US 3 167245782 167245782 single base substitution C T intron_variant SKCM-US 3 167245782 167245782 single base substitution C T synonymous_variant K283K 849G>A SKCM-US 3 167245782 167245782 single base substitution C T synonymous_variant K458K 1374G>A SKCM-US 3 167245788 167245788 single base substitution G A downstream_gene_variant SKCM-US 3 167245788 167245788 single base substitution G A intron_variant SKCM-US 3 167245788 167245788 single base substitution G A synonymous_variant S281S 843C>T SKCM-US 3 167245788 167245788 single base substitution G A synonymous_variant S456S 1368C>T SKCM-US 3 167246850 167246850 single base substitution C T downstream_gene_variant SKCM-US 3 167246850 167246850 single base substitution C T intron_variant SKCM-US 3 167246850 167246850 single base substitution C T stop_gained W272* 815G>A SKCM-US 3 167246850 167246850 single base substitution C T stop_gained W447* 1340G>A SKCM-US 3 167246850 167246850 single base substitution C T stop_gained W511* 1532G>A SKCM-US 3 167246850 167246850 single base substitution C T stop_gained W522* 1565G>A SKCM-US 3 167246850 167246850 single base substitution C T stop_gained W84* 251G>A SKCM-US 3 167246892 167246892 single base substitution C T downstream_gene_variant SKCM-US 3 167246892 167246892 single base substitution C T intron_variant SKCM-US 3 167246892 167246892 single base substitution C T missense_variant R258Q 773G>A SKCM-US 3 167246892 167246892 single base substitution C T missense_variant R433Q 1298G>A SKCM-US 3 167246892 167246892 single base substitution C T missense_variant R497Q 1490G>A SKCM-US 3 167246892 167246892 single base substitution C T missense_variant R508Q 1523G>A SKCM-US 3 167246892 167246892 single base substitution C T missense_variant R70Q 209G>A SKCM-US 3 167246922 167246922 single base substitution G A downstream_gene_variant SKCM-US 3 167246922 167246922 single base substitution G A intron_variant SKCM-US 3 167246922 167246922 single base substitution G A missense_variant S248L 743C>T SKCM-US 3 167246922 167246922 single base substitution G A missense_variant S423L 1268C>T SKCM-US 3 167246922 167246922 single base substitution G A missense_variant S487L 1460C>T SKCM-US 3 167246922 167246922 single base substitution G A missense_variant S498L 1493C>T SKCM-US 3 167246922 167246922 single base substitution G A missense_variant S60L 179C>T SKCM-US 3 167246928 167246928 single base substitution A G downstream_gene_variant SKCM-US 3 167246928 167246928 single base substitution A G intron_variant SKCM-US 3 167246928 167246928 single base substitution A G missense_variant V246A 737T>C SKCM-US 3 167246928 167246928 single base substitution A G missense_variant V421A 1262T>C SKCM-US 3 167246928 167246928 single base substitution A G missense_variant V485A 1454T>C SKCM-US 3 167246928 167246928 single base substitution A G missense_variant V496A 1487T>C SKCM-US 3 167246928 167246928 single base substitution A G missense_variant V58A 173T>C SKCM-US 3 167246950 167246950 single base substitution C T downstream_gene_variant SKCM-US 3 167246950 167246950 single base substitution C T intron_variant SKCM-US 3 167246950 167246950 single base substitution C T missense_variant E239K 715G>A SKCM-US 3 167246950 167246950 single base substitution C T missense_variant E414K 1240G>A SKCM-US 3 167246950 167246950 single base substitution C T missense_variant E478K 1432G>A SKCM-US 3 167246950 167246950 single base substitution C T missense_variant E489K 1465G>A SKCM-US 3 167246950 167246950 single base substitution C T missense_variant E51K 151G>A SKCM-US 3 167246952 167246952 single base substitution G A downstream_gene_variant SKCM-US 3 167246952 167246952 single base substitution G A intron_variant SKCM-US 3 167246952 167246952 single base substitution G A missense_variant A238V 713C>T SKCM-US 3 167246952 167246952 single base substitution G A missense_variant A413V 1238C>T SKCM-US 3 167246952 167246952 single base substitution G A missense_variant A477V 1430C>T SKCM-US 3 167246952 167246952 single base substitution G A missense_variant A488V 1463C>T SKCM-US 3 167246952 167246952 single base substitution G A missense_variant A50V 149C>T SKCM-US 3 167246977 167246977 single base substitution C T downstream_gene_variant SKCM-US 3 167246977 167246977 single base substitution C T intron_variant SKCM-US 3 167246977 167246977 single base substitution C T missense_variant D230N 688G>A SKCM-US 3 167246977 167246977 single base substitution C T missense_variant D405N 1213G>A SKCM-US 3 167246977 167246977 single base substitution C T missense_variant D42N 124G>A SKCM-US 3 167246977 167246977 single base substitution C T missense_variant D469N 1405G>A SKCM-US 3 167246977 167246977 single base substitution C T missense_variant D480N 1438G>A SKCM-US 3 167247009 167247009 single base substitution G A downstream_gene_variant SKCM-US 3 167247009 167247009 single base substitution G A intron_variant SKCM-US 3 167247009 167247009 single base substitution G A missense_variant S219L 656C>T SKCM-US 3 167247009 167247009 single base substitution G A missense_variant S31L 92C>T SKCM-US 3 167247009 167247009 single base substitution G A missense_variant S394L 1181C>T SKCM-US 3 167247009 167247009 single base substitution G A missense_variant S458L 1373C>T SKCM-US 3 167247009 167247009 single base substitution G A missense_variant S469L 1406C>T SKCM-US 3 167247019 167247019 single base substitution T C downstream_gene_variant SKCM-US 3 167247019 167247019 single base substitution T C intron_variant SKCM-US 3 167247019 167247019 single base substitution T C missense_variant N216D 646A>G SKCM-US 3 167247019 167247019 single base substitution T C missense_variant N28D 82A>G SKCM-US 3 167247019 167247019 single base substitution T C missense_variant N391D 1171A>G SKCM-US 3 167247019 167247019 single base substitution T C missense_variant N455D 1363A>G SKCM-US 3 167247019 167247019 single base substitution T C missense_variant N466D 1396A>G SKCM-US 3 167247024 167247024 single base substitution C T downstream_gene_variant SKCM-US 3 167247024 167247024 single base substitution C T intron_variant SKCM-US 3 167247024 167247024 single base substitution C T missense_variant G214E 641G>A SKCM-US 3 167247024 167247024 single base substitution C T missense_variant G26E 77G>A SKCM-US 3 167247024 167247024 single base substitution C T missense_variant G389E 1166G>A SKCM-US 3 167247024 167247024 single base substitution C T missense_variant G453E 1358G>A SKCM-US 3 167247024 167247024 single base substitution C T missense_variant G464E 1391G>A SKCM-US 3 167248902 167248902 single base substitution C T downstream_gene_variant SKCM-US 3 167248902 167248902 single base substitution C T intron_variant SKCM-US 3 167248902 167248902 single base substitution C T splice_donor_variant SKCM-US 3 167249024 167249024 single base substitution G A downstream_gene_variant SKCM-US 3 167249024 167249024 single base substitution G A intron_variant SKCM-US 3 167249024 167249024 single base substitution G A synonymous_variant P172P 516C>T SKCM-US 3 167249024 167249024 single base substitution G A synonymous_variant P347P 1041C>T SKCM-US 3 167249024 167249024 single base substitution G A synonymous_variant P411P 1233C>T SKCM-US 3 167249024 167249024 single base substitution G A synonymous_variant P422P 1266C>T SKCM-US 3 167249024 167249024 single base substitution G A upstream_gene_variant SKCM-US 3 167249033 167249033 single base substitution T C downstream_gene_variant SKCM-US 3 167249033 167249033 single base substitution T C intron_variant SKCM-US 3 167249033 167249033 single base substitution T C synonymous_variant R169R 507A>G SKCM-US 3 167249033 167249033 single base substitution T C synonymous_variant R344R 1032A>G SKCM-US 3 167249033 167249033 single base substitution T C synonymous_variant R408R 1224A>G SKCM-US 3 167249033 167249033 single base substitution T C synonymous_variant R419R 1257A>G SKCM-US 3 167249033 167249033 single base substitution T C upstream_gene_variant SKCM-US 3 167250754 167250754 single base substitution C T 3_prime_UTR_variant SKCM-US 3 167250754 167250754 single base substitution C T intron_variant SKCM-US 3 167250754 167250754 single base substitution C T missense_variant G129R 385G>A SKCM-US 3 167250754 167250754 single base substitution C T missense_variant G304R 910G>A SKCM-US 3 167250754 167250754 single base substitution C T missense_variant G368R 1102G>A SKCM-US 3 167250754 167250754 single base substitution C T missense_variant G379R 1135G>A SKCM-US 3 167250754 167250754 single base substitution C T upstream_gene_variant SKCM-US 3 167254669 167254669 single base substitution G A 3_prime_UTR_variant SKCM-US 3 167254669 167254669 single base substitution G A intron_variant SKCM-US 3 167254669 167254669 single base substitution G A missense_variant T121I 362C>T SKCM-US 3 167254669 167254669 single base substitution G A missense_variant T296I 887C>T SKCM-US 3 167254669 167254669 single base substitution G A missense_variant T360I 1079C>T SKCM-US 3 167254669 167254669 single base substitution G A missense_variant T371I 1112C>T SKCM-US 3 167254679 167254679 single base substitution G C 3_prime_UTR_variant SKCM-US 3 167254679 167254679 single base substitution G C intron_variant SKCM-US 3 167254679 167254679 single base substitution G C missense_variant P118A 352C>G SKCM-US 3 167254679 167254679 single base substitution G C missense_variant P293A 877C>G SKCM-US 3 167254679 167254679 single base substitution G C missense_variant P357A 1069C>G SKCM-US 3 167254679 167254679 single base substitution G C missense_variant P368A 1102C>G SKCM-US 3 167254736 167254736 single base substitution C T 3_prime_UTR_variant SKCM-US 3 167254736 167254736 single base substitution C T intron_variant SKCM-US 3 167254736 167254736 single base substitution C T missense_variant E274K 820G>A SKCM-US 3 167254736 167254736 single base substitution C T missense_variant E338K 1012G>A SKCM-US 3 167254736 167254736 single base substitution C T missense_variant E349K 1045G>A SKCM-US 3 167254736 167254736 single base substitution C T missense_variant E99K 295G>A SKCM-US 3 167254743 167254743 single base substitution G A 3_prime_UTR_variant SKCM-US 3 167254743 167254743 single base substitution G A intron_variant SKCM-US 3 167254743 167254743 single base substitution G A synonymous_variant I271I 813C>T SKCM-US 3 167254743 167254743 single base substitution G A synonymous_variant I335I 1005C>T SKCM-US 3 167254743 167254743 single base substitution G A synonymous_variant I346I 1038C>T SKCM-US 3 167254743 167254743 single base substitution G A synonymous_variant I96I 288C>T SKCM-US 3 167272581 167272581 single base substitution C T intron_variant SKCM-US 3 167272581 167272581 single base substitution C T stop_gained W112* 336G>A SKCM-US 3 167272581 167272581 single base substitution C T stop_gained W219* 657G>A SKCM-US 3 167272581 167272581 single base substitution C T stop_gained W272* 816G>A SKCM-US 3 167272581 167272581 single base substitution C T stop_gained W283* 849G>A SKCM-US 3 167272581 167272581 single base substitution C T stop_gained W44* 132G>A SKCM-US 3 167277918 167277918 single base substitution G A intron_variant SKCM-US 3 167277918 167277918 single base substitution G A synonymous_variant I195I 585C>T SKCM-US 3 167277918 167277918 single base substitution G A synonymous_variant I20I 60C>T SKCM-US 3 167277918 167277918 single base substitution G A synonymous_variant I248I 744C>T SKCM-US 3 167277918 167277918 single base substitution G A synonymous_variant I259I 777C>T SKCM-US 3 167277918 167277918 single base substitution G A synonymous_variant I88I 264C>T SKCM-US 3 167277932 167277932 single base substitution C T intron_variant SKCM-US 3 167277932 167277932 single base substitution C T missense_variant G16S 46G>A SKCM-US 3 167277932 167277932 single base substitution C T missense_variant G191S 571G>A SKCM-US 3 167277932 167277932 single base substitution C T missense_variant G244S 730G>A SKCM-US 3 167277932 167277932 single base substitution C T missense_variant G255S 763G>A SKCM-US 3 167277932 167277932 single base substitution C T missense_variant G84S 250G>A SKCM-US 3 167277998 167277998 single base substitution C T 5_prime_UTR_variant SKCM-US 3 167277998 167277998 single base substitution C T intron_variant SKCM-US 3 167277998 167277998 single base substitution C T missense_variant G169R 505G>A SKCM-US 3 167277998 167277998 single base substitution C T missense_variant G222R 664G>A SKCM-US 3 167277998 167277998 single base substitution C T missense_variant G233R 697G>A SKCM-US 3 167277998 167277998 single base substitution C T missense_variant G62R 184G>A SKCM-US 3 167293710 167293710 single base substitution T C 3_prime_UTR_variant SKCM-US 3 167293710 167293710 single base substitution T C intron_variant SKCM-US 3 167293710 167293710 single base substitution T C missense_variant K161R 482A>G SKCM-US 3 167293710 167293710 single base substitution T C missense_variant K214R 641A>G SKCM-US 3 167293710 167293710 single base substitution T C missense_variant K225R 674A>G SKCM-US 3 167293710 167293710 single base substitution T C missense_variant K502R 1505A>G SKCM-US 3 167293710 167293710 single base substitution T C upstream_gene_variant SKCM-US 3 167293760 167293760 single base substitution C T 3_prime_UTR_variant SKCM-US 3 167293760 167293760 single base substitution C T intron_variant SKCM-US 3 167293760 167293760 single base substitution C T synonymous_variant V144V 432G>A SKCM-US 3 167293760 167293760 single base substitution C T synonymous_variant V197V 591G>A SKCM-US 3 167293760 167293760 single base substitution C T synonymous_variant V208V 624G>A SKCM-US 3 167293760 167293760 single base substitution C T synonymous_variant V485V 1455G>A SKCM-US 3 167293760 167293760 single base substitution C T upstream_gene_variant SKCM-US 3 167293777 167293777 single base substitution C T 3_prime_UTR_variant SKCM-US 3 167293777 167293777 single base substitution C T intron_variant SKCM-US 3 167293777 167293777 single base substitution C T missense_variant E139K 415G>A SKCM-US 3 167293777 167293777 single base substitution C T missense_variant E192K 574G>A SKCM-US 3 167293777 167293777 single base substitution C T missense_variant E203K 607G>A SKCM-US 3 167293777 167293777 single base substitution C T missense_variant E480K 1438G>A SKCM-US 3 167293777 167293777 single base substitution C T upstream_gene_variant SKCM-US 3 167319957 167319957 single base substitution G A 3_prime_UTR_variant SKCM-US 3 167319957 167319957 single base substitution G A intron_variant SKCM-US 3 167319957 167319957 single base substitution G A synonymous_variant F123F 369C>T SKCM-US 3 167319957 167319957 single base substitution G A synonymous_variant F134F 402C>T SKCM-US 3 167319957 167319957 single base substitution G A synonymous_variant F411F 1233C>T SKCM-US 3 167319957 167319957 single base substitution G A synonymous_variant F70F 210C>T SKCM-US 3 167319987 167319987 single base substitution G A 3_prime_UTR_variant SKCM-US 3 167319987 167319987 single base substitution G A intron_variant SKCM-US 3 167319987 167319987 single base substitution G A synonymous_variant G113G 339C>T SKCM-US 3 167319987 167319987 single base substitution G A synonymous_variant G124G 372C>T SKCM-US 3 167319987 167319987 single base substitution G A synonymous_variant G401G 1203C>T SKCM-US 3 167319987 167319987 single base substitution G A synonymous_variant G60G 180C>T SKCM-US 3 167320025 167320025 single base substitution G A 3_prime_UTR_variant SKCM-US 3 167320025 167320025 single base substitution G A intron_variant SKCM-US 3 167320025 167320025 single base substitution G A missense_variant P101S 301C>T SKCM-US 3 167320025 167320025 single base substitution G A missense_variant P112S 334C>T SKCM-US 3 167320025 167320025 single base substitution G A missense_variant P389S 1165C>T SKCM-US 3 167320025 167320025 single base substitution G A missense_variant P48S 142C>T STAD-US 3 167196720 167196720 single base substitution T C 3_prime_UTR_variant STAD-US 3 167196720 167196720 single base substitution T C synonymous_variant K505K 1515A>G STAD-US 3 167196720 167196720 single base substitution T C synonymous_variant K645K 1935A>G STAD-US 3 167196720 167196720 single base substitution T C synonymous_variant K656K 1968A>G STAD-US 3 167196720 167196720 single base substitution T C synonymous_variant K680K 2040A>G STAD-US 3 167217955 167217955 deletion of <=200bp G - frameshift_variant P479 STAD-US 3 167217955 167217955 deletion of <=200bp G - frameshift_variant P619 STAD-US 3 167217955 167217955 deletion of <=200bp G - frameshift_variant P630 STAD-US 3 167217955 167217955 deletion of <=200bp G - frameshift_variant P654 STAD-US 3 167217955 167217955 deletion of <=200bp G - intron_variant STAD-US 3 167217963 167217963 single base substitution C T intron_variant STAD-US 3 167217963 167217963 single base substitution C T synonymous_variant L476L 1428G>A STAD-US 3 167217963 167217963 single base substitution C T synonymous_variant L616L 1848G>A STAD-US 3 167217963 167217963 single base substitution C T synonymous_variant L627L 1881G>A STAD-US 3 167217963 167217963 single base substitution C T synonymous_variant L651L 1953G>A STAD-US 3 167218047 167218047 single base substitution C G intron_variant STAD-US 3 167218047 167218047 single base substitution C G synonymous_variant L448L 1344G>C STAD-US 3 167218047 167218047 single base substitution C G synonymous_variant L588L 1764G>C STAD-US 3 167218047 167218047 single base substitution C G synonymous_variant L599L 1797G>C STAD-US 3 167218047 167218047 single base substitution C G synonymous_variant L623L 1869G>C STAD-US 3 167223102 167223102 deletion of <=200bp T - frameshift_variant K432 STAD-US 3 167223102 167223102 deletion of <=200bp T - frameshift_variant K572 STAD-US 3 167223102 167223102 deletion of <=200bp T - frameshift_variant K583 STAD-US 3 167223102 167223102 deletion of <=200bp T - frameshift_variant K607 STAD-US 3 167223102 167223102 deletion of <=200bp T - intron_variant STAD-US 3 167223127 167223127 single base substitution G T intron_variant STAD-US 3 167223127 167223127 single base substitution G T missense_variant P424H 1271C>A STAD-US 3 167223127 167223127 single base substitution G T missense_variant P564H 1691C>A STAD-US 3 167223127 167223127 single base substitution G T missense_variant P575H 1724C>A STAD-US 3 167223127 167223127 single base substitution G T missense_variant P599H 1796C>A STAD-US 3 167240189 167240189 single base substitution A C intron_variant STAD-US 3 167240189 167240189 single base substitution A C missense_variant I115M 345T>G STAD-US 3 167240189 167240189 single base substitution A C missense_variant I369M 1107T>G STAD-US 3 167240189 167240189 single base substitution A C missense_variant I544M 1632T>G STAD-US 3 167245795 167245795 single base substitution A C downstream_gene_variant STAD-US 3 167245795 167245795 single base substitution A C intron_variant STAD-US 3 167245795 167245795 single base substitution A C missense_variant L279R 836T>G STAD-US 3 167245795 167245795 single base substitution A C missense_variant L454R 1361T>G STAD-US 3 167246875 167246875 single base substitution C T downstream_gene_variant STAD-US 3 167246875 167246875 single base substitution C T intron_variant STAD-US 3 167246875 167246875 single base substitution C T missense_variant D264N 790G>A STAD-US 3 167246875 167246875 single base substitution C T missense_variant D439N 1315G>A STAD-US 3 167246875 167246875 single base substitution C T missense_variant D503N 1507G>A STAD-US 3 167246875 167246875 single base substitution C T missense_variant D514N 1540G>A STAD-US 3 167246875 167246875 single base substitution C T missense_variant D76N 226G>A STAD-US 3 167246886 167246886 single base substitution A C downstream_gene_variant STAD-US 3 167246886 167246886 single base substitution A C intron_variant STAD-US 3 167246886 167246886 single base substitution A C missense_variant L260R 779T>G STAD-US 3 167246886 167246886 single base substitution A C missense_variant L435R 1304T>G STAD-US 3 167246886 167246886 single base substitution A C missense_variant L499R 1496T>G STAD-US 3 167246886 167246886 single base substitution A C missense_variant L510R 1529T>G STAD-US 3 167246886 167246886 single base substitution A C missense_variant L72R 215T>G STAD-US 3 167246889 167246889 single base substitution T C downstream_gene_variant STAD-US 3 167246889 167246889 single base substitution T C intron_variant STAD-US 3 167246889 167246889 single base substitution T C missense_variant Y259C 776A>G STAD-US 3 167246889 167246889 single base substitution T C missense_variant Y434C 1301A>G STAD-US 3 167246889 167246889 single base substitution T C missense_variant Y498C 1493A>G STAD-US 3 167246889 167246889 single base substitution T C missense_variant Y509C 1526A>G STAD-US 3 167246889 167246889 single base substitution T C missense_variant Y71C 212A>G STAD-US 3 167246946 167246946 single base substitution A C downstream_gene_variant STAD-US 3 167246946 167246946 single base substitution A C intron_variant STAD-US 3 167246946 167246946 single base substitution A C missense_variant F240C 719T>G STAD-US 3 167246946 167246946 single base substitution A C missense_variant F415C 1244T>G STAD-US 3 167246946 167246946 single base substitution A C missense_variant F479C 1436T>G STAD-US 3 167246946 167246946 single base substitution A C missense_variant F490C 1469T>G STAD-US 3 167246946 167246946 single base substitution A C missense_variant F52C 155T>G STAD-US 3 167248986 167248986 single base substitution C T downstream_gene_variant STAD-US 3 167248986 167248986 single base substitution C T intron_variant STAD-US 3 167248986 167248986 single base substitution C T missense_variant R185H 554G>A STAD-US 3 167248986 167248986 single base substitution C T missense_variant R360H 1079G>A STAD-US 3 167248986 167248986 single base substitution C T missense_variant R424H 1271G>A STAD-US 3 167248986 167248986 single base substitution C T missense_variant R435H 1304G>A STAD-US 3 167248986 167248986 single base substitution C T upstream_gene_variant STAD-US 3 167249049 167249049 single base substitution A G downstream_gene_variant STAD-US 3 167249049 167249049 single base substitution A G intron_variant STAD-US 3 167249049 167249049 single base substitution A G missense_variant L164P 491T>C STAD-US 3 167249049 167249049 single base substitution A G missense_variant L339P 1016T>C STAD-US 3 167249049 167249049 single base substitution A G missense_variant L403P 1208T>C STAD-US 3 167249049 167249049 single base substitution A G missense_variant L414P 1241T>C STAD-US 3 167249049 167249049 single base substitution A G upstream_gene_variant STAD-US 3 167250683 167250683 single base substitution C A 3_prime_UTR_variant STAD-US 3 167250683 167250683 single base substitution C A intron_variant STAD-US 3 167250683 167250683 single base substitution C A missense_variant L152F 456G>T STAD-US 3 167250683 167250683 single base substitution C A missense_variant L327F 981G>T STAD-US 3 167250683 167250683 single base substitution C A missense_variant L391F 1173G>T STAD-US 3 167250683 167250683 single base substitution C A missense_variant L402F 1206G>T STAD-US 3 167250683 167250683 single base substitution C A upstream_gene_variant STAD-US 3 167254760 167254760 single base substitution A G 3_prime_UTR_variant STAD-US 3 167254760 167254760 single base substitution A G intron_variant STAD-US 3 167254760 167254760 single base substitution A G missense_variant F266L 796T>C STAD-US 3 167254760 167254760 single base substitution A G missense_variant F330L 988T>C STAD-US 3 167254760 167254760 single base substitution A G missense_variant F341L 1021T>C STAD-US 3 167254760 167254760 single base substitution A G missense_variant F91L 271T>C STAD-US 3 167272480 167272480 single base substitution C A downstream_gene_variant STAD-US 3 167272480 167272480 single base substitution C A intron_variant STAD-US 3 167272480 167272480 single base substitution C A missense_variant G253V 758G>T STAD-US 3 167272480 167272480 single base substitution C A missense_variant G306V 917G>T STAD-US 3 167272480 167272480 single base substitution C A missense_variant G317V 950G>T STAD-US 3 167272480 167272480 single base substitution C A missense_variant G78V 233G>T STAD-US 3 167277851 167277851 single base substitution C T intron_variant STAD-US 3 167277851 167277851 single base substitution C T splice_donor_variant STAD-US 3 167277927 167277927 single base substitution G A intron_variant STAD-US 3 167277927 167277927 single base substitution G A synonymous_variant N17N 51C>T STAD-US 3 167277927 167277927 single base substitution G A synonymous_variant N192N 576C>T STAD-US 3 167277927 167277927 single base substitution G A synonymous_variant N245N 735C>T STAD-US 3 167277927 167277927 single base substitution G A synonymous_variant N256N 768C>T STAD-US 3 167277927 167277927 single base substitution G A synonymous_variant N85N 255C>T STAD-US 3 167277983 167277983 single base substitution A G 5_prime_UTR_variant STAD-US 3 167277983 167277983 single base substitution A G intron_variant STAD-US 3 167277983 167277983 single base substitution A G missense_variant F174L 520T>C STAD-US 3 167277983 167277983 single base substitution A G missense_variant F227L 679T>C STAD-US 3 167277983 167277983 single base substitution A G missense_variant F238L 712T>C STAD-US 3 167277983 167277983 single base substitution A G missense_variant F67L 199T>C STAD-US 3 167293770 167293770 single base substitution C A 3_prime_UTR_variant STAD-US 3 167293770 167293770 single base substitution C A intron_variant STAD-US 3 167293770 167293770 single base substitution C A missense_variant S141I 422G>T STAD-US 3 167293770 167293770 single base substitution C A missense_variant S194I 581G>T STAD-US 3 167293770 167293770 single base substitution C A missense_variant S205I 614G>T STAD-US 3 167293770 167293770 single base substitution C A missense_variant S482I 1445G>T STAD-US 3 167293770 167293770 single base substitution C A upstream_gene_variant STAD-US 3 167319962 167319962 single base substitution G T 3_prime_UTR_variant STAD-US 3 167319962 167319962 single base substitution G T intron_variant STAD-US 3 167319962 167319962 single base substitution G T missense_variant Q122K 364C>A STAD-US 3 167319962 167319962 single base substitution G T missense_variant Q133K 397C>A STAD-US 3 167319962 167319962 single base substitution G T missense_variant Q410K 1228C>A STAD-US 3 167319962 167319962 single base substitution G T missense_variant Q69K 205C>A STAD-US 3 167319987 167319987 single base substitution G A 3_prime_UTR_variant STAD-US 3 167319987 167319987 single base substitution G A intron_variant STAD-US 3 167319987 167319987 single base substitution G A synonymous_variant G113G 339C>T STAD-US 3 167319987 167319987 single base substitution G A synonymous_variant G124G 372C>T STAD-US 3 167319987 167319987 single base substitution G A synonymous_variant G401G 1203C>T STAD-US 3 167319987 167319987 single base substitution G A synonymous_variant G60G 180C>T THCA-US 3 167245799 167245799 single base substitution A G downstream_gene_variant THCA-US 3 167245799 167245799 single base substitution A G intron_variant THCA-US 3 167245799 167245799 single base substitution A G missense_variant C278R 832T>C THCA-US 3 167245799 167245799 single base substitution A G missense_variant C453R 1357T>C UCEC-US 3 167218008 167218008 single base substitution C A intron_variant UCEC-US 3 167218008 167218008 single base substitution C A missense_variant E461D 1383G>T UCEC-US 3 167218008 167218008 single base substitution C A missense_variant E601D 1803G>T UCEC-US 3 167218008 167218008 single base substitution C A missense_variant E612D 1836G>T UCEC-US 3 167218008 167218008 single base substitution C A missense_variant E636D 1908G>T UCEC-US 3 167240187 167240187 single base substitution G T intron_variant UCEC-US 3 167240187 167240187 single base substitution G T missense_variant S116Y 347C>A UCEC-US 3 167240187 167240187 single base substitution G T missense_variant S370Y 1109C>A UCEC-US 3 167240187 167240187 single base substitution G T missense_variant S545Y 1634C>A UCEC-US 3 167240235 167240235 single base substitution G T intron_variant UCEC-US 3 167240235 167240235 single base substitution G T missense_variant P100H 299C>A UCEC-US 3 167240235 167240235 single base substitution G T missense_variant P354H 1061C>A UCEC-US 3 167240235 167240235 single base substitution G T missense_variant P529H 1586C>A UCEC-US 3 167245803 167245803 single base substitution C A downstream_gene_variant UCEC-US 3 167245803 167245803 single base substitution C A intron_variant UCEC-US 3 167245803 167245803 single base substitution C A missense_variant E276D 828G>T UCEC-US 3 167245803 167245803 single base substitution C A missense_variant E451D 1353G>T UCEC-US 3 167246922 167246922 single base substitution G A downstream_gene_variant UCEC-US 3 167246922 167246922 single base substitution G A intron_variant UCEC-US 3 167246922 167246922 single base substitution G A missense_variant S248L 743C>T UCEC-US 3 167246922 167246922 single base substitution G A missense_variant S423L 1268C>T UCEC-US 3 167246922 167246922 single base substitution G A missense_variant S487L 1460C>T UCEC-US 3 167246922 167246922 single base substitution G A missense_variant S498L 1493C>T UCEC-US 3 167246922 167246922 single base substitution G A missense_variant S60L 179C>T UCEC-US 3 167248990 167248990 single base substitution C T downstream_gene_variant UCEC-US 3 167248990 167248990 single base substitution C T intron_variant UCEC-US 3 167248990 167248990 single base substitution C T missense_variant V184I 550G>A UCEC-US 3 167248990 167248990 single base substitution C T missense_variant V359I 1075G>A UCEC-US 3 167248990 167248990 single base substitution C T missense_variant V423I 1267G>A UCEC-US 3 167248990 167248990 single base substitution C T missense_variant V434I 1300G>A UCEC-US 3 167248990 167248990 single base substitution C T upstream_gene_variant UCEC-US 3 167293741 167293741 single base substitution C T 3_prime_UTR_variant UCEC-US 3 167293741 167293741 single base substitution C T intron_variant UCEC-US 3 167293741 167293741 single base substitution C T missense_variant V151I 451G>A UCEC-US 3 167293741 167293741 single base substitution C T missense_variant V204I 610G>A UCEC-US 3 167293741 167293741 single base substitution C T missense_variant V215I 643G>A UCEC-US 3 167293741 167293741 single base substitution C T missense_variant V492I 1474G>A UCEC-US 3 167293741 167293741 single base substitution C T upstream_gene_variant UCEC-US 3 167293815 167293815 single base substitution G A 3_prime_UTR_variant UCEC-US 3 167293815 167293815 single base substitution G A intron_variant UCEC-US 3 167293815 167293815 single base substitution G A missense_variant S126L 377C>T UCEC-US 3 167293815 167293815 single base substitution G A missense_variant S179L 536C>T UCEC-US 3 167293815 167293815 single base substitution G A missense_variant S190L 569C>T UCEC-US 3 167293815 167293815 single base substitution G A missense_variant S467L 1400C>T UCEC-US 3 167293815 167293815 single base substitution G A upstream_gene_variant UCEC-US 3 167293868 167293868 single base substitution C A 3_prime_UTR_variant UCEC-US 3 167293868 167293868 single base substitution C A intron_variant UCEC-US 3 167293868 167293868 single base substitution C A missense_variant Q108H 324G>T UCEC-US 3 167293868 167293868 single base substitution C A missense_variant Q161H 483G>T UCEC-US 3 167293868 167293868 single base substitution C A missense_variant Q172H 516G>T UCEC-US 3 167293868 167293868 single base substitution C A missense_variant Q449H 1347G>T UCEC-US 3 167293868 167293868 single base substitution C A upstream_gene_variant UCEC-US 3 167319921 167319921 single base substitution C A 3_prime_UTR_variant UCEC-US 3 167319921 167319921 single base substitution C A intron_variant UCEC-US 3 167319921 167319921 single base substitution C A missense_variant K135N 405G>T UCEC-US 3 167319921 167319921 single base substitution C A missense_variant K146N 438G>T UCEC-US 3 167319921 167319921 single base substitution C A missense_variant K423N 1269G>T UCEC-US 3 167319921 167319921 single base substitution C A missense_variant K82N 246G>T UCEC-US 3 167322164 167322164 single base substitution G A 3_prime_UTR_variant UCEC-US 3 167322164 167322164 single base substitution G A intron_variant UCEC-US 3 167322164 167322164 single base substitution G A missense_variant R10C 28C>T UCEC-US 3 167322164 167322164 single base substitution G A missense_variant R351C 1051C>T UCEC-US 3 167322164 167322164 single base substitution G A missense_variant R63C 187C>T UCEC-US 3 167322164 167322164 single base substitution G A missense_variant R74C 220C>T UCEC-US 3 167322202 167322202 single base substitution T G 3_prime_UTR_variant UCEC-US 3 167322202 167322202 single base substitution T G 5_prime_UTR_variant UCEC-US 3 167322202 167322202 single base substitution T G intron_variant UCEC-US 3 167322202 167322202 single base substitution T G missense_variant N338T 1013A>C UCEC-US 3 167322202 167322202 single base substitution T G missense_variant N50T 149A>C UCEC-US 3 167322202 167322202 single base substitution T G missense_variant N61T 182A>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CHC734T COSM4953501 c.1779G>T p.M593I Substitution - Missense 3:167505356-167505356 - TCGA-HF-7133-01 COSM4115059 c.1796C>A p.P599H Substitution - Missense 3:167505339-167505339 - STC252 COSM5059478 c.1153G>A p.A385T Substitution - Missense 3:167531124-167531124 - T38 COSM1308798 c.896C>T p.T299M Substitution - Missense 3:167536872-167536872 - YULAN COSM1693743 c.1940G>A p.R647H Substitution - Missense 3:167500188-167500188 - TCGA-BR-8680-01 COSM4115083 c.422G>T p.S141I Substitution - Missense 3:167575982-167575982 - TCGA-HC-7231-01 COSM1471553 c.229C>A p.L77I Substitution - Missense 3:167602150-167602150 - TCGA-J4-A67S-01 COSM4393494 c.1930G>T p.E644* Substitution - Nonsense 3:167500198-167500198 - TCGA-BR-6566-01 COSM4115079 c.651+1G>A p.? Unknown 3:167560063-167560063 - TCGA-HU-A4GX-01 COSM4115085 c.205C>A p.Q69K Substitution - Missense 3:167602174-167602174 - 49M COSM5593969 c.1893C>T p.F631F Substitution - coding silent 3:167500235-167500235 - TCGA-34-2596-01 COSM729223 c.450A>T p.A150A Substitution - coding silent 3:167575954-167575954 - YUPROST COSM1693750 c.1409C>T p.S470L Substitution - Missense 3:167527959-167527959 - TCGA-DA-A1IC-06 COSM3589778 c.1240G>A p.E414K Substitution - Missense 3:167529162-167529162 - SNU-C1 COSM3203357 c.889C>G p.L297V Substitution - Missense 3:167536879-167536879 - TCGA-CC-5264-01 COSM4915223 c.1720G>A p.V574I Substitution - Missense 3:167505415-167505415 - BCM545T COSM4802676 c.11G>T p.R4I Substitution - Missense 3:167604393-167604393 - YURUS COSM1693753 c.408G>A p.M136I Substitution - Missense 3:167575996-167575996 - 2_RESISTANT COSM1722944 c.325G>A p.D109N Substitution - Missense 3:167576079-167576079 - TCGA-F5-6814-01 COSM3427297 c.2092T>G p.*698E Nonstop extension 3:167478880-167478880 - TCGA-F1-6177-01 COSM165576 c.1079G>A p.R360H Substitution - Missense 3:167531198-167531198 - CSCC-41-T COSM4569491 c.1797T>C p.P599P Substitution - coding silent 3:167505338-167505338 - ATL008 COSM5708540 c.1296T>G p.N432K Substitution - Missense 3:167529106-167529106 - LAU618 COSM235571 c.2016G>A p.K672K Substitution - coding silent 3:167478956-167478956 - SWE-3A COSM1178303 c.1409C>A p.S470* Substitution - Nonsense 3:167527959-167527959 - TCGA-GV-A3QI-01 COSM1308796 c.1984G>C p.A662P Substitution - Missense 3:167478988-167478988 - TCGA-AP-A0LM-01 COSM1040927 c.1268C>T p.S423L Substitution - Missense 3:167529134-167529134 - TCGA-B0-4844-01 COSM116187 c.914A>C p.E305A Substitution - Missense 3:167532962-167532962 - CSCC-27-T COSM3203345 c.1142G>A p.R381K Substitution - Missense 3:167531135-167531135 - CRC-02T COSM5455162 c.1936G>T p.E646* Substitution - Nonsense 3:167500192-167500192 - LUAD-S01467 COSM399487 c.464T>C p.L155P Substitution - Missense 3:167575940-167575940 - RK135_C01 COSM3767143 c.564T>G p.G188G Substitution - coding silent 3:167560151-167560151 - TCGA-BR-8680-01 COSM4115062 c.1315G>A p.D439N Substitution - Missense 3:167529087-167529087 - TCGA-EE-A20C-06 COSM3589765 c.1585C>T p.P529S Substitution - Missense 3:167522448-167522448 - LUAD-S01413 COSM388302 c.387C>T p.N129N Substitution - coding silent 3:167576017-167576017 - S02344 COSM419727 c.1057G>C p.D353H Substitution - Missense 3:167531220-167531220 - TCGA-AG-3896-01 COSM288926 c.270T>C p.D90D Substitution - coding silent 3:167576134-167576134 - C058 COSM5525824 c.1626G>A p.K542K Substitution - coding silent 3:167522407-167522407 - TCGA-CG-5728-01 COSM4115077 c.758G>T p.G253V Substitution - Missense 3:167554692-167554692 - YUFERY COSM5398599 c.2005C>T p.L669L Substitution - coding silent 3:167478967-167478967 - 24T COSM108969 c.1698C>A p.N566K Substitution - Missense 3:167522335-167522335 - TCGA-AF-6136-01 COSM1566599 c.1095C>T p.D365D Substitution - coding silent 3:167531182-167531182 - I2L-P19Ta-Tumor-Organoid COSM5367628 c.1222_1223insTA p.K408fs*25 Insertion - Frameshift 3:167529179-167529180 - TCGA-AG-3891-01 COSM5069082 c.870G>A p.A290A Substitution - coding silent 3:167536898-167536898 - HX13T COSM1617174 c.1200T>C p.Y400Y Substitution - coding silent 3:167529202-167529202 - TCGA-BR-A4QL-01 COSM4115071 c.1016T>C p.L339P Substitution - Missense 3:167531261-167531261 - TCGA-09-2050-01 COSM73281 c.878C>A p.P293H Substitution - Missense 3:167536890-167536890 - WT021 COSM207841 c.576C>T p.N192N Substitution - coding silent 3:167560139-167560139 - TCGA-CG-4469-01 COSM1270406 c.1361T>G p.L454R Substitution - Missense 3:167528007-167528007 - Patient_2 COSM5414311 c.519C>T p.S173S Substitution - coding silent 3:167560196-167560196 - CSCC-6-T COSM4539453 c.268G>A p.D90N Substitution - Missense 3:167576136-167576136 - CSCC-32-T COSM4451483 c.1241A>C p.E414A Substitution - Missense 3:167529161-167529161 - sysucc-1972T COSM5480457 c.412A>C p.S138R Substitution - Missense 3:167575992-167575992 - PD22363a COSM5768015 c.847C>G p.H283D Substitution - Missense 3:167536921-167536921 - YUKLAB COSM1693753 c.408G>A p.M136I Substitution - Missense 3:167575996-167575996 - YUHAY COSM1685934 c.518C>T p.S173F Substitution - Missense 3:167560197-167560197 - PT46 COSM5928541 c.1765A>T p.R589* Substitution - Nonsense 3:167505370-167505370 - TCGA-HU-A4GU-01 COSM4115053 c.2040A>G p.K680K Substitution - coding silent 3:167478932-167478932 - TCGA-63-6202-01 COSM729226 c.1089G>A p.E363E Substitution - coding silent 3:167531188-167531188 - PDA_028 COSM4999360 c.839T>C p.I280T Substitution - Missense 3:167536929-167536929 - TCGA-D1-A15W-01 COSM1040924 c.1634C>A p.S545Y Substitution - Missense 3:167522399-167522399 - TCGA-CC-A7IG-01 COSM4942954 c.618G>A p.R206R Substitution - coding silent 3:167560097-167560097 - 134430 COSM324299 c.11G>C p.R4T Substitution - Missense 3:167604393-167604393 - TCGA-22-4613-01 COSM729229 c.1351-2A>G p.? Unknown 3:167528019-167528019 - SNU-175 COSM3203331 c.1227G>A p.K409K Substitution - coding silent 3:167529175-167529175 - TCGA-60-2720-01 COSM729230 c.1507G>T p.V503L Substitution - Missense 3:167527861-167527861 - CHC197T COSM3669107 c.1172A>T p.N391I Substitution - Missense 3:167529230-167529230 - TCGA-DA-A3F8-06 COSM3589769 c.1374G>A p.K458K Substitution - coding silent 3:167527994-167527994 - TCGA-F1-6177-01 COSM207841 c.576C>T p.N192N Substitution - coding silent 3:167560139-167560139 - TCGA-D9-A149-06 COSM3203319 c.1439C>T p.S480F Substitution - Missense 3:167527929-167527929 - TCGA-AZ-4315-01 COSM1420457 c.62G>A p.G21D Substitution - Missense 3:167604342-167604342 - PCSI_0083_Pa_P_526 COSM3380458 c.620T>C p.L207P Substitution - Missense 3:167560095-167560095 - 585260 COSM324300 c.1053G>T p.M351I Substitution - Missense 3:167531224-167531224 - TCGA-AM-5821-01 COSM3759864 c.1952T>C p.L651P Substitution - Missense 3:167500176-167500176 - PT37 COSM5918309 c.765G>A p.E255E Substitution - coding silent 3:167554685-167554685 - Patient_1 COSM3203271 c.2036G>A p.R679Q Substitution - Missense 3:167478936-167478936 - TCGA-AZ-4315-01 COSM1420459 c.15G>T p.E5D Substitution - Missense 3:167604389-167604389 - TCGA-AA-3663-01 COSM1420441 c.2057A>G p.Q686R Substitution - Missense 3:167478915-167478915 - 2492724 COSM4560060 c.828G>A p.W276* Substitution - Nonsense 3:167536940-167536940 - TCGA-EB-A431-01 COSM3589766 c.1399C>G p.L467V Substitution - Missense 3:167527969-167527969 - YUPAT COSM1693755 c.228A>T p.Q76H Substitution - Missense 3:167602151-167602151 - 8065356 COSM207841 c.576C>T p.N192N Substitution - coding silent 3:167560139-167560139 - Pat_05_A COSM5863875 c.1925A>C p.E642A Substitution - Missense 3:167500203-167500203 - HCC062T COSM5820864 c.421A>C p.S141R Substitution - Missense 3:167575983-167575983 - TCGA-14-1455 COSM2155539 c.883C>G p.Q295E Substitution - Missense 3:167536885-167536885 - PD3857a COSM165576 c.1079G>A p.R360H Substitution - Missense 3:167531198-167531198 - ESO-075 COSM1270406 c.1361T>G p.L454R Substitution - Missense 3:167528007-167528007 - YUKLAB COSM1693745 c.1864G>A p.E622K Substitution - Missense 3:167500264-167500264 - LUAD-NYU1219 COSM370116 c.1702G>T p.D568Y Substitution - Missense 3:167522331-167522331 - TCGA-EE-A2MR-06 COSM3589810 c.432G>A p.V144V Substitution - coding silent 3:167575972-167575972 - TCGA-DD-A1EG-01 COSM1308798 c.896C>T p.T299M Substitution - Missense 3:167536872-167536872 - TCGA-FS-A1ZP-06 COSM3589758 c.1878G>A p.V626V Substitution - coding silent 3:167500250-167500250 - PT33 COSM5908361 c.487-7C>T p.? Unknown 3:167560235-167560235 - HCC70 COSM1617171 c.1647G>A p.K549K Substitution - coding silent 3:167522386-167522386 - 2492725 COSM4560060 c.828G>A p.W276* Substitution - Nonsense 3:167536940-167536940 - TCGA-AA-A010-01 COSM286509 c.1224G>T p.K408N Substitution - Missense 3:167529178-167529178 - PCSI_0083_Pa_X COSM3380458 c.620T>C p.L207P Substitution - Missense 3:167560095-167560095 - Pat_05_B COSM5863875 c.1925A>C p.E642A Substitution - Missense 3:167500203-167500203 - TCGA-D7-6822-01 COSM4115061 c.1632T>G p.I544M Substitution - Missense 3:167522401-167522401 - TCGA-CG-4306-01 COSM4115087 c.180C>T p.G60G Substitution - coding silent 3:167602199-167602199 - PT08_1 COSM5544359 c.719C>T p.S240L Substitution - Missense 3:167554731-167554731 - ESCC_16 COSM5625838 c.522C>G p.F174L Substitution - Missense 3:167560193-167560193 - TCGA-AH-6643-01 COSM1270406 c.1361T>G p.L454R Substitution - Missense 3:167528007-167528007 - HN_00190 COSM130200 c.125A>C p.K42T Substitution - Missense 3:167602254-167602254 - CSCC-11-T COSM3203287 c.1933G>A p.E645K Substitution - Missense 3:167500195-167500195 - CSCC-31-T COSM3589764 c.1586C>T p.P529L Substitution - Missense 3:167522447-167522447 - TCGA-G4-6626-01 COSM1420454 c.285G>A p.L95L Substitution - coding silent 3:167576119-167576119 - YUOMEGA COSM4560060 c.828G>A p.W276* Substitution - Nonsense 3:167536940-167536940 - TCGA-ER-A19H-06 COSM1693750 c.1409C>T p.S470L Substitution - Missense 3:167527959-167527959 - TCGA-BT-A3PJ-01 COSM3774706 c.621T>C p.L207L Substitution - coding silent 3:167560094-167560094 - TCGA-FS-A1ZK-06 COSM3203271 c.2036G>A p.R679Q Substitution - Missense 3:167478936-167478936 - 076T COSM1730702 c.43T>C p.S15P Substitution - Missense 3:167604361-167604361 - PT33 COSM5908359 c.1293G>A p.M431I Substitution - Missense 3:167529109-167529109 - TCGA-FW-A3R5-06 COSM3589763 c.1627G>A p.E543K Substitution - Missense 3:167522406-167522406 - T26 COSM32652 c.29G>A p.R10H Substitution - Missense 3:167604375-167604375 - TCGA-B5-A0JY-01 COSM1040923 c.1908G>T p.E636D Substitution - Missense 3:167500220-167500220 - CHC734T COSM4953501 c.1779G>T p.M593I Substitution - Missense 3:167505356-167505356 - TCGA-D3-A5GS-06 COSM3589760 c.1762G>A p.E588K Substitution - Missense 3:167505373-167505373 - ESCC_BICR_041T COSM5441362 c.1629A>C p.E543D Substitution - Missense 3:167522404-167522404 - P130 COSM1730702 c.43T>C p.S15P Substitution - Missense 3:167604361-167604361 - TCGA-AA-3492-01 COSM1420451 c.827G>T p.W276L Substitution - Missense 3:167536941-167536941 - PDA_074 COSM3759864 c.1952T>C p.L651P Substitution - Missense 3:167500176-167500176 - CSCC-60-T COSM4569879 c.211T>C p.F71L Substitution - Missense 3:167602168-167602168 - HCC074T COSM316538 c.838A>T p.I280L Substitution - Missense 3:167536930-167536930 - 2_PRE-TREATMENT COSM1722944 c.325G>A p.D109N Substitution - Missense 3:167576079-167576079 - CSCC-20-T COSM3589773 c.1298G>A p.R433Q Substitution - Missense 3:167529104-167529104 - TCGA-AA-3663-01 COSM1420445 c.1821delA p.K607fs*9 Deletion - Frameshift 3:167505314-167505314 - 587376 COSM1232604 c.1924G>T p.E642* Substitution - Nonsense 3:167500204-167500204 - TCGA-BL-A13I-01 COSM419727 c.1057G>C p.D353H Substitution - Missense 3:167531220-167531220 - Detroit_562 COSM3203277 c.1997A>C p.E666A Substitution - Missense 3:167478975-167478975 - D28 COSM1685934 c.518C>T p.S173F Substitution - Missense 3:167560197-167560197 - TCGA-DM-A1DA-01 COSM1420455 c.252+1G>A p.? Unknown 3:167602126-167602126 - TCGA-23-1809-01 COSM582314 c.1350G>T p.E450D Substitution - Missense 3:167529052-167529052 - TCGA-FS-A1ZA-06 COSM3589784 c.1171A>G p.N391D Substitution - Missense 3:167529231-167529231 - TCGA-EE-A29D-06 COSM3589776 c.1262T>C p.V421A Substitution - Missense 3:167529140-167529140 - TCGA-CM-5863-01 COSM1420456 c.76G>T p.D26Y Substitution - Missense 3:167604328-167604328 - Au4 COSM5605345 c.1313G>A p.G438E Substitution - Missense 3:167529089-167529089 - TCGA-22-5489-01 COSM729232 c.1765A>G p.R589G Substitution - Missense 3:167505370-167505370 - TCGA-HU-8602-01 COSM4115066 c.1301A>G p.Y434C Substitution - Missense 3:167529101-167529101 - TCGA-DA-A1I8-06 COSM3589790 c.1041C>T p.P347P Substitution - coding silent 3:167531236-167531236 - TCGA-FW-A3R5-06 COSM3915297 c.415G>A p.E139K Substitution - Missense 3:167575989-167575989 - TCGA-AZ-4315-01 COSM1040923 c.1908G>T p.E636D Substitution - Missense 3:167500220-167500220 - HCC134T COSM5818974 c.1889C>T p.A630V Substitution - Missense 3:167500239-167500239 - TCGA-BR-6705-01 COSM4115075 c.796T>C p.F266L Substitution - Missense 3:167536972-167536972 - MO_1020 COSM5559571 c.1303C>A p.L435I Substitution - Missense 3:167529099-167529099 - TCGA-BH-A0B6-01 COSM3846676 c.274C>T p.Q92* Substitution - Nonsense 3:167576130-167576130 - P-Thy046 COSM4953501 c.1779G>T p.M593I Substitution - Missense 3:167505356-167505356 - TCGA-EE-A20C-06 COSM3589752 c.2017G>A p.E673K Substitution - Missense 3:167478955-167478955 - TCGA-EE-A2MR-06 COSM3589754 c.1916T>A p.F639Y Substitution - Missense 3:167500212-167500212 - CSCC-55-T COSM4509563 c.810C>T p.F270F Substitution - coding silent 3:167536958-167536958 - TCGA-85-6561-01 COSM729224 c.668G>T p.G223V Substitution - Missense 3:167554782-167554782 - Au10 COSM5598949 c.2059G>A p.E687K Substitution - Missense 3:167478913-167478913 - CSCC-10-T COSM4528432 c.1536G>A p.W512* Substitution - Nonsense 3:167527832-167527832 - TCGA-EE-A3JA-06 COSM3589762 c.1634C>T p.S545F Substitution - Missense 3:167522399-167522399 - P08-2516 COSM248326 c.1686T>G p.L562L Substitution - coding silent 3:167522347-167522347 - sysucc-880T COSM5463229 c.997+2T>C p.? Unknown 3:167532877-167532877 - TCGA-BS-A0UF-01 COSM1040930 c.377C>T p.S126L Substitution - Missense 3:167576027-167576027 - ESO-049 COSM1270405 c.1207T>A p.F403I Substitution - Missense 3:167529195-167529195 - YUJUBE COSM1693750 c.1409C>T p.S470L Substitution - Missense 3:167527959-167527959 - TCGA-BG-A0VW-01 COSM1040929 c.451G>A p.V151I Substitution - Missense 3:167575953-167575953 - TCGA-09-1672-01 COSM1327740 c.1776C>T p.C592C Substitution - coding silent 3:167505359-167505359 - TCGA-AO-A128-01 COSM3846674 c.620T>G p.L207R Substitution - Missense 3:167560095-167560095 - CHC197T COSM3669107 c.1172A>T p.N391I Substitution - Missense 3:167529230-167529230 - TCGA-D3-A3MR-06 COSM3589767 c.1397C>T p.T466I Substitution - Missense 3:167527971-167527971 - pfg016T COSM1642164 c.198A>G p.I66M Substitution - Missense 3:167602181-167602181 - T84 COSM3203391 c.301G>C p.A101P Substitution - Missense 3:167576103-167576103 - CHC892T COSM4798539 c.57C>T p.A19A Substitution - coding silent 3:167604347-167604347 - TCGA-BR-4256-01 COSM4115064 c.1304T>G p.L435R Substitution - Missense 3:167529098-167529098 - ESCC_BICR_007T COSM5434143 c.601G>C p.D201H Substitution - Missense 3:167560114-167560114 - D16 COSM5007111 c.279C>G p.H93Q Substitution - Missense 3:167576125-167576125 - TCGA-B5-A0JY-01 COSM1040928 c.1075G>A p.V359I Substitution - Missense 3:167531202-167531202 - LP6008031-DNA_B01 COSM5952937 c.1691A>G p.K564R Substitution - Missense 3:167522342-167522342 - TCGA-EE-A2GM-06 COSM3589812 c.142C>T p.P48S Substitution - Missense 3:167602237-167602237 - PT48 COSM1693750 c.1409C>T p.S470L Substitution - Missense 3:167527959-167527959 - YUNEKI COSM1685934 c.518C>T p.S173F Substitution - Missense 3:167560197-167560197 - TCGA-GN-A266-06 COSM3589808 c.505G>A p.G169R Substitution - Missense 3:167560210-167560210 - TCGA-A6-6653-01 COSM1420446 c.1489G>A p.A497T Substitution - Missense 3:167527879-167527879 - TCGA-EE-A3JI-06 COSM3589798 c.820G>A p.E274K Substitution - Missense 3:167536948-167536948 - CSCC-41-T COSM4466534 c.143C>T p.P48L Substitution - Missense 3:167602236-167602236 - HCC2998 COSM3203320 c.1435A>C p.S479R Substitution - Missense 3:167527933-167527933 - YUSIPU COSM1537161 c.1546C>T p.Q516* Substitution - Nonsense 3:167527822-167527822 - TCGA-EE-A3JA-06 COSM3589792 c.910G>A p.G304R Substitution - Missense 3:167532966-167532966 - TCGA-AO-A03M-01 COSM3846672 c.927G>T p.W309C Substitution - Missense 3:167532949-167532949 - ccRCC-4 COSM1665859 c.1858delC p.L620fs*7 Deletion - Frameshift 3:167500270-167500270 - TCGA-C8-A12W-01 COSM445916 c.1736A>G p.D579G Substitution - Missense 3:167505399-167505399 - SWE-37 COSM1179813 c.798C>A p.F266L Substitution - Missense 3:167536970-167536970 - TCGA-18-4083-01 COSM729228 c.1268C>G p.S423W Substitution - Missense 3:167529134-167529134 - TCGA-66-2759-01 COSM729227 c.1119G>T p.M373I Substitution - Missense 3:167531158-167531158 - TCGA-EE-A3J7-06 COSM3589763 c.1627G>A p.E543K Substitution - Missense 3:167522406-167522406 - TCGA-60-2711-01 COSM729225 c.830A>T p.K277I Substitution - Missense 3:167536938-167536938 - LUAD-D02185 COSM338741 c.619C>A p.L207I Substitution - Missense 3:167560096-167560096 - 2492721 COSM3203287 c.1933G>A p.E645K Substitution - Missense 3:167500195-167500195 - CSCC-32-T COSM3203271 c.2036G>A p.R679Q Substitution - Missense 3:167478936-167478936 - TCGA-AP-A0LM-01 COSM1040933 c.28C>T p.R10C Substitution - Missense 3:167604376-167604376 - CSCC-31-T COSM4474084 c.1894C>A p.L632I Substitution - Missense 3:167500234-167500234 - TCGA-C5-A1M6-01 COSM3203386 c.455C>T p.T152I Substitution - Missense 3:167575949-167575949 - BCM567T COSM4955490 c.1607T>A p.V536E Substitution - Missense 3:167522426-167522426 - BCM545T COSM4802676 c.11G>T p.R4I Substitution - Missense 3:167604393-167604393 - TCGA-EE-A2GR-06 COSM3589804 c.585C>T p.I195I Substitution - coding silent 3:167560130-167560130 - PT46 COSM1693750 c.1409C>T p.S470L Substitution - Missense 3:167527959-167527959 - AA1934 COSM4169120 c.1786A>G p.T596A Substitution - Missense 3:167505349-167505349 - TCGA-GV-A3JX-01 COSM1308797 c.1099G>A p.E367K Substitution - Missense 3:167531178-167531178 - TCGA-AZ-4315-01 COSM1420442 c.2049A>C p.Q683H Substitution - Missense 3:167478923-167478923 - Pat_46_B COSM5863879 c.82C>T p.H28Y Substitution - Missense 3:167604322-167604322 - I2L-P19Ta-Tumor-Organoid COSM1420445 c.1821delA p.K607fs*9 Deletion - Frameshift 3:167505314-167505314 - RK087_C01 COSM3702357 c.1599T>C p.T533T Substitution - coding silent 3:167522434-167522434 - TCGA-D1-A17Q-01 COSM1040932 c.246G>T p.K82N Substitution - Missense 3:167602133-167602133 - C058 COSM3589763 c.1627G>A p.E543K Substitution - Missense 3:167522406-167522406 - 2492722 COSM3203287 c.1933G>A p.E645K Substitution - Missense 3:167500195-167500195 - LP6007544-DNA_A01 COSM4408993 c.2011C>T p.P671S Substitution - Missense 3:167478961-167478961 - 8031073 COSM3392190 c.1078C>T p.R360C Substitution - Missense 3:167531199-167531199 - TCGA-D9-A149-06 COSM1040927 c.1268C>T p.S423L Substitution - Missense 3:167529134-167529134 - TCGA-AX-A0J0-01 COSM1040925 c.1586C>A p.P529H Substitution - Missense 3:167522447-167522447 - 8015858 COSM3392192 c.1020C>T p.L340L Substitution - coding silent 3:167531257-167531257 - TCGA-GN-A266-06 COSM3589763 c.1627G>A p.E543K Substitution - Missense 3:167522406-167522406 - TCGA-EE-A3AE-06 COSM3589750 c.2032G>A p.E678K Substitution - Missense 3:167478940-167478940 - 53M COSM3589752 c.2017G>A p.E673K Substitution - Missense 3:167478955-167478955 - 145 COSM3735245 c.1109A>T p.N370I Substitution - Missense 3:167531168-167531168 - YUDAB COSM1693741 c.2029C>T p.H677Y Substitution - Missense 3:167478943-167478943 - LP6007414-DNA_A02 COSM4409474 c.700G>A p.D234N Substitution - Missense 3:167554750-167554750 - 2334192 COSM316537 c.1871C>A p.P624H Substitution - Missense 3:167500257-167500257 - 35M COSM5583043 c.1908G>A p.E636E Substitution - coding silent 3:167500220-167500220 - TCGA-AA-3663-01 COSM1420447 c.1189G>T p.G397* Substitution - Nonsense 3:167529213-167529213 - Pat_73_B COSM3589778 c.1240G>A p.E414K Substitution - Missense 3:167529162-167529162 - sysucc-311T COSM5465773 c.134T>G p.L45R Substitution - Missense 3:167602245-167602245 - ESO-0459 COSM1270404 c.1611A>T p.E537D Substitution - Missense 3:167522422-167522422 - I2L-P19Ta-Tumor-Biopsy COSM5367628 c.1222_1223insTA p.K408fs*25 Insertion - Frameshift 3:167529179-167529180 - TCGA-43-6143-01 COSM729231 c.1643C>T p.S548F Substitution - Missense 3:167522390-167522390 - 122-06-01TD COSM5418659 c.1957G>T p.A653S Substitution - Missense 3:167500171-167500171 - TCGA-FS-A1ZZ-06 COSM3203287 c.1933G>A p.E645K Substitution - Missense 3:167500195-167500195 - PD8621a COSM5796850 c.223A>C p.K75Q Substitution - Missense 3:167602156-167602156 - TCGA-EE-A29R-06 COSM3589770 c.1368C>T p.S456S Substitution - coding silent 3:167528000-167528000 - TCGA-HC-7745-01 COSM1420452 c.577G>A p.A193T Substitution - Missense 3:167560138-167560138 - TCGA-DA-A1HV-06 COSM3589800 c.813C>T p.I271I Substitution - coding silent 3:167536955-167536955 - ESCC_153 COSM5645745 c.583A>G p.I195V Substitution - Missense 3:167560132-167560132 - pfg060T COSM4763408 c.1111G>A p.A371T Substitution - Missense 3:167531166-167531166 - S02245 COSM5678567 c.1202T>C p.V401A Substitution - Missense 3:167529200-167529200 - HN_62505 COSM127027 c.940G>T p.E314* Substitution - Nonsense 3:167532936-167532936 - CSCC-49-T COSM4547708 c.429G>A p.R143R Substitution - coding silent 3:167575975-167575975 - TCGA-EE-A29P-06 COSM3203405 c.210C>T p.F70F Substitution - coding silent 3:167602169-167602169 - TCGA-D9-A4Z3-01 COSM3589796 c.877C>G p.P293A Substitution - Missense 3:167536891-167536891 - TCGA-F4-6855-01 COSM1420452 c.577G>A p.A193T Substitution - Missense 3:167560138-167560138 - TCGA-A6-6141-01 COSM1420444 c.1852G>T p.G618* Substitution - Nonsense 3:167500276-167500276 - Pat_73_A COSM3589778 c.1240G>A p.E414K Substitution - Missense 3:167529162-167529162 - Mx32 COSM32652 c.29G>A p.R10H Substitution - Missense 3:167604375-167604375 - 1_PRE-TREATMENT COSM1720981 c.1224G>A p.K408K Substitution - coding silent 3:167529178-167529178 - S01453 COSM316539 c.1683A>T p.L561L Substitution - coding silent 3:167522350-167522350 - PT53 COSM5941221 c.67C>A p.H23N Substitution - Missense 3:167604337-167604337 - sysucc-834T COSM1420452 c.577G>A p.A193T Substitution - Missense 3:167560138-167560138 - TCGA-BH-A0AW-01 COSM445917 c.598delC p.D201fs*8 Deletion - Frameshift 3:167560117-167560117 - TCGA-EE-A3AD-06 COSM3589764 c.1586C>T p.P529L Substitution - Missense 3:167522447-167522447 - PDA_033 COSM4999773 c.524G>T p.W175L Substitution - Missense 3:167560191-167560191 - LUAD-CHTN-4090680 COSM357760 c.622T>C p.L208L Substitution - coding silent 3:167560093-167560093 - TCGA-AA-3510-01 COSM3695700 c.652-1G>A p.? Unknown 3:167554799-167554799 - 19685 COSM5346226 c.717T>C p.I239I Substitution - coding silent 3:167554733-167554733 - HCC2998 COSM3203401 c.247G>A p.D83N Substitution - Missense 3:167602132-167602132 - YUDEXA COSM1693749 c.1420C>T p.H474Y Substitution - Missense 3:167527948-167527948 - SWE-3A COSM1178303 c.1409C>A p.S470* Substitution - Nonsense 3:167527959-167527959 - EGC15 COSM3203299 c.1821_1822insA p.S608fs*6 Insertion - Frameshift 3:167505313-167505314 - ESCC_131 COSM5328230 c.785G>C p.R262P Substitution - Missense 3:167536983-167536983 - T3064 COSM3203285 c.1939C>T p.R647C Substitution - Missense 3:167500189-167500189 - YUPAT COSM1693748 c.1435A>G p.S479G Substitution - Missense 3:167527933-167527933 - TCGA-D9-A6EC-06 COSM4401588 c.482A>G p.K161R Substitution - Missense 3:167575922-167575922 - YUDEDE COSM1693753 c.408G>A p.M136I Substitution - Missense 3:167575996-167575996 - TCGA-EE-A2GT-06 COSM3589788 c.1162+1G>A p.? Unknown 3:167531114-167531114 - LUAD-YINHD COSM392670 c.217delG p.E73fs*14 Deletion - Frameshift 3:167602162-167602162 - TCGA-EB-A431-01 COSM3589780 c.1238C>T p.A413V Substitution - Missense 3:167529164-167529164 - TCGA-FW-A3R5-06 COSM3915293 c.1181C>T p.S394L Substitution - Missense 3:167529221-167529221 - S02273 COSM5681994 c.1329G>T p.W443C Substitution - Missense 3:167529073-167529073 - HCC70T COSM1617171 c.1647G>A p.K549K Substitution - coding silent 3:167522386-167522386 - 16 COSM1693750 c.1409C>T p.S470L Substitution - Missense 3:167527959-167527959 - YUPROST COSM1693751 c.668G>A p.G223E Substitution - Missense 3:167554782-167554782 - TCGA-EE-A180-06 COSM1040927 c.1268C>T p.S423L Substitution - Missense 3:167529134-167529134 - BCM567T COSM4955490 c.1607T>A p.V536E Substitution - Missense 3:167522426-167522426 - TCGA-F4-6805-01 COSM207841 c.576C>T p.N192N Substitution - coding silent 3:167560139-167560139 - 8065697 COSM3392194 c.1006C>T p.P336S Substitution - Missense 3:167531271-167531271 - TCGA-EE-A3JD-06 COSM4115087 c.180C>T p.G60G Substitution - coding silent 3:167602199-167602199 - TCGA-EB-A3XE-01 COSM3589768 c.1396A>G p.T466A Substitution - Missense 3:167527972-167527972 - TCGA-BR-4257-01 COSM4115073 c.981G>T p.L327F Substitution - Missense 3:167532895-167532895 - T3152 COSM4740981 c.570C>T p.H190H Substitution - coding silent 3:167560145-167560145 - YULAN COSM1686450 c.998-1G>A p.? Unknown 3:167531280-167531280 - CSCC-31-T COSM4471478 c.171C>T p.V57V Substitution - coding silent 3:167602208-167602208 - ESO-0176 COSM1270403 c.1246T>G p.L416V Substitution - Missense 3:167529156-167529156 - TCGA-CC-A3M9-01 COSM4928612 c.611A>T p.E204V Substitution - Missense 3:167560104-167560104 - Au7 COSM5606283 c.750G>A p.L250L Substitution - coding silent 3:167554700-167554700 - LUAD-B02216 COSM335638 c.706G>T p.A236S Substitution - Missense 3:167554744-167554744 - YUMOBER COSM3589804 c.585C>T p.I195I Substitution - coding silent 3:167560130-167560130 - TCGA-AZ-6601-01 COSM1420443 c.1961C>T p.P654L Substitution - Missense 3:167500167-167500167 - TCGA-AP-A0LM-01 COSM1040931 c.324G>T p.Q108H Substitution - Missense 3:167576080-167576080 - T155 COSM1176506 c.907G>T p.D303Y Substitution - Missense 3:167532969-167532969 - Pat_46_A COSM5863879 c.82C>T p.H28Y Substitution - Missense 3:167604322-167604322 - TCGA-FW-A3R5-06 COSM3915292 c.1567G>A p.E523K Substitution - Missense 3:167522466-167522466 - CSCC-31-T COSM4520737 c.1072G>A p.G358R Substitution - Missense 3:167531205-167531205 - CSCC-41-T COSM4560060 c.828G>A p.W276* Substitution - Nonsense 3:167536940-167536940 - CSCC-30-T COSM3589752 c.2017G>A p.E673K Substitution - Missense 3:167478955-167478955 - TCGA-GD-A3OQ-01 COSM1308798 c.896C>T p.T299M Substitution - Missense 3:167536872-167536872 - PT08_2 COSM5544359 c.719C>T p.S240L Substitution - Missense 3:167554731-167554731 - TCGA-24-1556-01 COSM116187 c.914A>C p.E305A Substitution - Missense 3:167532962-167532962 - TCGA-CG-4305-01 COSM4115055 c.1953G>A p.L651L Substitution - coding silent 3:167500175-167500175 - YUWHIM COSM1685934 c.518C>T p.S173F Substitution - Missense 3:167560197-167560197 - TCGA-D3-A2JO-06 COSM3589802 c.657G>A p.W219* Substitution - Nonsense 3:167554793-167554793 - TCGA-FW-A3R5-06 COSM3589802 c.657G>A p.W219* Substitution - Nonsense 3:167554793-167554793 - CRC-22T COSM5453124 c.1859T>A p.L620Q Substitution - Missense 3:167500269-167500269 - S01453 COSM316539 c.1683A>T p.L561L Substitution - coding silent 3:167522350-167522350 - 587342 COSM1232603 c.1354T>C p.Y452H Substitution - Missense 3:167528014-167528014 - TCGA-A3-3346-01 COSM1495407 c.833G>A p.G278E Substitution - Missense 3:167536935-167536935 - SNUH_G73_S1 COSM3759864 c.1952T>C p.L651P Substitution - Missense 3:167500176-167500176 - TCGA-EE-A2MU-06 COSM3203271 c.2036G>A p.R679Q Substitution - Missense 3:167478936-167478936 - 1_RESISTANT COSM1720981 c.1224G>A p.K408K Substitution - coding silent 3:167529178-167529178 - 2492730 COSM1566599 c.1095C>T p.D365D Substitution - coding silent 3:167531182-167531182 - TCGA-IR-A3LF-01 COSM4849545 c.1936G>C p.E646Q Substitution - Missense 3:167500192-167500192 - C086 COSM5541715 c.204C>T p.V68V Substitution - coding silent 3:167602175-167602175 - TCGA-HU-A4GH-01 COSM4115068 c.1244T>G p.F415C Substitution - Missense 3:167529158-167529158 - ESO-0013 COSM1270401 c.561T>C p.T187T Substitution - coding silent 3:167560154-167560154 - YUKIL COSM1693747 c.1637T>A p.L546* Substitution - Nonsense 3:167522396-167522396 - CHC892T COSM4798539 c.57C>T p.A19A Substitution - coding silent 3:167604347-167604347 - LUAD-S01306 COSM343630 c.761G>T p.W254L Substitution - Missense 3:167554689-167554689 - TCGA-EI-6917-01 COSM3427299 c.1518C>A p.V506V Substitution - coding silent 3:167527850-167527850 - TCGA-EE-A29E-06 COSM3589771 c.1340G>A p.W447* Substitution - Nonsense 3:167529062-167529062 - TCGA-AA-3831-01 COSM271066 c.20C>T p.S7L Substitution - Missense 3:167604384-167604384 - TCGA-DJ-A2Q9-01 COSM3373078 c.1357T>C p.C453R Substitution - Missense 3:167528011-167528011 - LUAD-F00257 COSM340209 c.1855G>A p.A619T Substitution - Missense 3:167500273-167500273 - ccRCC-25 COSM1664994 c.388C>T p.Q130* Substitution - Nonsense 3:167576016-167576016 - HCC4 COSM1617174 c.1200T>C p.Y400Y Substitution - coding silent 3:167529202-167529202 - HCC4T COSM1617174 c.1200T>C p.Y400Y Substitution - coding silent 3:167529202-167529202 - 6 COSM5732335 c.1665C>G p.D555E Substitution - Missense 3:167522368-167522368 - Pat_59_A COSM5863877 c.403delG p.A135fs*2 Deletion - Frameshift 3:167576001-167576001 - 2492723 COSM3203287 c.1933G>A p.E645K Substitution - Missense 3:167500195-167500195 - TCGA-EE-A3AH-06 COSM3589782 c.1213G>A p.D405N Substitution - Missense 3:167529189-167529189 - TCGA-D3-A2JF-06 COSM3589806 c.571G>A p.G191S Substitution - Missense 3:167560144-167560144 - ESO-0149 COSM1270402 c.831A>T p.K277N Substitution - Missense 3:167536937-167536937 - TCGA-61-2614-01 COSM1327739 c.383A>G p.N128S Substitution - Missense 3:167576021-167576021 - PT34 COSM3589760 c.1762G>A p.E588K Substitution - Missense 3:167505373-167505373 - TCGA-EE-A29N-06 COSM3589756 c.1909A>G p.K637E Substitution - Missense 3:167500219-167500219 - LUAD-F00170 COSM366829 c.236G>T p.S79I Substitution - Missense 3:167602143-167602143 - TCGA-AA-A00N-01 COSM278126 c.1735G>T p.D579Y Substitution - Missense 3:167505400-167505400 - NB-1744 COSM1288941 c.1111G>T p.A371S Substitution - Missense 3:167531166-167531166 - H2171 COSM316538 c.838A>T p.I280L Substitution - Missense 3:167536930-167536930 - YUKAT COSM5398601 c.1324G>A p.G442R Substitution - Missense 3:167529078-167529078 - T1154 COSM4740979 c.1649A>T p.E550V Substitution - Missense 3:167522384-167522384 - TCGA-FS-A1ZC-06 COSM3589786 c.1166G>A p.G389E Substitution - Missense 3:167529236-167529236 - CSCC-27-T COSM4569618 c.1896T>G p.L632L Substitution - coding silent 3:167500232-167500232 - PT21_2 COSM5901288 c.1894C>T p.L632F Substitution - Missense 3:167500234-167500234 - TCGA-C5-A0TN-01 COSM4856171 c.2041G>T p.A681S Substitution - Missense 3:167478931-167478931 - TCGA-BC-A10U-01 COSM4942332 c.1312G>A p.G438R Substitution - Missense 3:167529090-167529090 - PT28 COSM1685934 c.518C>T p.S173F Substitution - Missense 3:167560197-167560197 - TCGA-BT-A20J-01 COSM419728 c.1492G>A p.D498N Substitution - Missense 3:167527876-167527876 - 587376 COSM1232605 c.1672G>T p.E558* Substitution - Nonsense 3:167522361-167522361 - ZZUFHECRKL-G016T COSM5440213 c.1070C>T p.T357M Substitution - Missense 3:167531207-167531207 - LN18 COSM3203407 c.206A>C p.Q69P Substitution - Missense 3:167602173-167602173 - CSCC-31-T COSM4494753 c.439C>T p.H147Y Substitution - Missense 3:167575965-167575965 - D01 COSM5544359 c.719C>T p.S240L Substitution - Missense 3:167554731-167554731 - PT42 COSM5925082 c.809T>C p.F270S Substitution - Missense 3:167536959-167536959 - HT55 COSM3203318 c.1442T>C p.L481S Substitution - Missense 3:167527926-167527926 - TCGA-ER-A193-06 COSM3589748 c.2076G>A p.V692V Substitution - coding silent 3:167478896-167478896 - TCGA-BR-8059-01 COSM4115057 c.1869G>C p.L623L Substitution - coding silent 3:167500259-167500259 - CSCC-11-T COSM4520737 c.1072G>A p.G358R Substitution - Missense 3:167531205-167531205 - TCGA-E2-A14W-01 COSM445918 c.124A>C p.K42Q Substitution - Missense 3:167602255-167602255 - HN_62421 COSM130199 c.332G>A p.R111K Substitution - Missense 3:167576072-167576072 - 98711 COSM324298 c.719C>A p.S240* Substitution - Nonsense 3:167554731-167554731 - LUAD-NYU696 COSM376072 c.1153G>T p.A385S Substitution - Missense 3:167531124-167531124 - I2L-P19Ta-Tumor-Biopsy COSM1420445 c.1821delA p.K607fs*9 Deletion - Frameshift 3:167505314-167505314 - TCGA-E1-5322-01 COSM3974262 c.1737T>A p.D579E Substitution - Missense 3:167505398-167505398 - MO_1184 COSM5558655 c.463C>G p.L155V Substitution - Missense 3:167575941-167575941 - TCGA-ER-A2NC-06 COSM3589794 c.887C>T p.T296I Substitution - Missense 3:167536881-167536881 - ME043T COSM228371 c.365G>A p.R122Q Substitution - Missense 3:167576039-167576039 - 2492726 COSM4560060 c.828G>A p.W276* Substitution - Nonsense 3:167536940-167536940 - RK046_C01 COSM1632961 c.2086A>G p.K696E Substitution - Missense 3:167478886-167478886 - TCGA-AA-A029-01 COSM287435 c.1019_1020insTCT p.L340_S341insL Insertion - In frame 3:167531257-167531258 - TCGA-B0-4712-01 COSM479683 c.674G>T p.C225F Substitution - Missense 3:167554776-167554776 - 2492720 COSM3203287 c.1933G>A p.E645K Substitution - Missense 3:167500195-167500195 - 12M COSM5577854 c.748C>T p.L250L Substitution - coding silent 3:167554702-167554702 - 8058339 COSM3392188 c.1187G>A p.G396E Substitution - Missense 3:167529215-167529215 - pfg181T COSM4763416 c.173T>G p.L58R Substitution - Missense 3:167602206-167602206 - TCGA-EE-A3J4-06 COSM3915295 c.1032A>G p.R344R Substitution - coding silent 3:167531245-167531245 - HCC57T COSM1617173 c.1531G>T p.V511F Substitution - Missense 3:167527837-167527837 - CSCC-44-T COSM4520747 c.1073G>A p.G358E Substitution - Missense 3:167531204-167531204 - CSCC-56-T COSM3203345 c.1142G>A p.R381K Substitution - Missense 3:167531135-167531135 - TCGA-GN-A265-06 COSM3589773 c.1298G>A p.R433Q Substitution - Missense 3:167529104-167529104 - BD49T COSM130199 c.332G>A p.R111K Substitution - Missense 3:167576072-167576072 - SC_9056 COSM5562759 c.1903C>G p.P635A Substitution - Missense 3:167500225-167500225 - RK108_C01 COSM1632963 c.616C>A p.R206R Substitution - coding silent 3:167560099-167560099 - YUMUL COSM4471478 c.171C>T p.V57V Substitution - coding silent 3:167602208-167602208 - TCGA-AX-A05Z-01 COSM1040926 c.1353G>T p.E451D Substitution - Missense 3:167528015-167528015 - LUAD-S01357 COSM392506 c.1794_1795insA p.P599fs*5 Insertion - Frameshift 3:167505340-167505341 - YUKAT COSM3589778 c.1240G>A p.E414K Substitution - Missense 3:167529162-167529162 - TCGA-HU-A4H4-01 COSM4115081 c.520T>C p.F174L Substitution - Missense 3:167560195-167560195 - TCGA-CA-6717-01 COSM1420448 c.915A>C p.E305D Substitution - Missense 3:167532961-167532961 - H1672 COSM316537 c.1871C>A p.P624H Substitution - Missense 3:167500257-167500257 - TCGA-AR-A251-01 COSM5834590 c.1920delG p.E642fs*19 Deletion - Frameshift 3:167500208-167500208 - 4537_T COSM3945109 c.1462G>A p.G488S Substitution - Missense 3:167527906-167527906 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.213725;Hs.213735;Hs.213740;Hs.213745;Hs.213756;Hs.213762 3q26.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.I544M c.1632T>G 3 167240189 STAD A C Missense p.L435R c.1304T>G 3 167246886 STAD A C Missense p.L454R c.1361T>G 3 167245795 ESCA A C Missense p.L454R c.1361T>G 3 167245795 STAD - AGA InFrameInsertion p.L340_S341insF c.1020_1021insTTC 3 167249046 COREAD A G IntronicSNV . c.486+802T>C 3 167292904 HC A G Missense p.C453R c.1357T>C 3 167245799 THCA A G Missense p.F266L c.796T>C 3 167254760 STAD A G Synonymous p.D90D c.270T>C 3 167293922 COREAD A G Synonymous p.L207L c.621T>C 3 167277882 BLCA A G Synonymous p.P599P c.1797T>C 3 167223126 CM A G Synonymous p.S427S c.1281T>C 3 167246909 LGG A G Synonymous p.T187T c.561T>C 3 167277942 ESCA - AGTGTGTGTGTGTGT IntronicInsertion . c.487-5221_487-5220insACACACACACACACT 3 167283236 CLL A T Missense p.D579E c.1737T>A 3 167223186 LGG A T Missense p.F403I c.1207T>A 3 167246983 ESCA A T Missense p.F71I c.211T>A 3 167319956 CM A T Missense p.I306N c.917T>A 3 167250747 HNSC A T Missense p.V237E c.710T>A 3 167272528 LUAD C A 5-UTRSNV . c.1-6G>T 3 167322197 CM C A Missense p.A371S c.1111G>T 3 167248954 NB C A Missense p.E450D c.1350G>T 3 167246840 LUAD C A Missense p.G223V c.668G>T 3 167272570 LUSC C A Missense p.G488C c.1462G>T 3 167245694 LUAD C A Missense p.L327F c.981G>T 3 167250683 STAD C A Missense p.M351I c.1053G>T 3 167249012 SCLC C A Missense p.M373I c.1119G>T 3 167248946 LUSC C A Missense p.V503L c.1507G>T 3 167245649 LUSC C A Missense p.W443L c.1328G>T 3 167246862 LUAD C A Nonsense p.E314* c.940G>T 3 167250724 HNSC C A Nonsense p.E644* c.1930G>T 3 167217986 PRAD CA TC Missense p.C189D c.565_566delinsGA 3 167277937 CM C G Missense p.A662P c.1984G>C 3 167196776 BLCA C G Missense p.D353H c.1057G>C 3 167249008 BLCA C G Missense p.G420A c.1259G>C 3 167246931 LUAD C G Missense p.R4T c.11G>C 3 167322181 SCLC C T Missense p.A193T c.577G>A 3 167277926 PRAD C T Missense p.D220N c.658G>A 3 167272580 HNSC C T Missense p.D405N c.1213G>A 3 167246977 CM C T Missense p.D498N c.1492G>A 3 167245664 BLCA C T Missense p.E274K c.820G>A 3 167254736 CM C T Missense p.E367K c.1099G>A 3 167248966 BLCA C T Missense p.E414K c.1240G>A 3 167246950 CM C T Missense p.E543K c.1627G>A 3 167240194 CM C T Missense p.E550K c.1648G>A 3 167240173 CM C T Missense p.E645K c.1933G>A 3 167217983 CM C T Missense p.E673K c.2017G>A 3 167196743 CM C T Missense p.E678K c.2032G>A 3 167196728 CM C T Missense p.G191S c.571G>A 3 167277932 CM C T Missense p.G210S c.628G>A 3 167277875 CM C T Missense p.G304R c.910G>A 3 167250754 CM C T Missense p.G389E c.1166G>A 3 167247024 CM C T Missense p.G602S c.1804G>A 3 167223119 HNSC C T Missense p.R111K c.332G>A 3 167293860 HNSC C T Missense p.R262Q c.785G>A 3 167254771 CM C T Missense p.R360H c.1079G>A 3 167248986 BRCA C T Missense p.R360H c.1079G>A 3 167248986 STAD C T Missense p.R433Q c.1298G>A 3 167246892 CM C T Missense p.V151I c.451G>A 3 167293741 UCEC C T Nonsense p.W175* c.524G>A 3 167277979 CM C T Nonsense p.W219* c.657G>A 3 167272581 CM C T SpliceDonorSNV . c.1162+1G>A 3 167248902 CM C T Synonymous p.E363E c.1089G>A 3 167248976 LUSC C T Synonymous p.G300G c.900G>A 3 167250764 CM C T Synonymous p.K458K c.1374G>A 3 167245782 CM C T Synonymous p.L651L c.1953G>A 3 167217963 STAD C T Synonymous p.V626V c.1878G>A 3 167218038 CM G A 5-UTRSNV . c.1-43C>T 3 167322234 ESCA G A IntronicSNV . c.1-16155C>T 3 167338346 PAAD G A Missense p.L440F c.1318C>T 3 167246872 CM G A Missense p.P48S c.142C>T 3 167320025 CM G A Missense p.P529L c.1586C>T 3 167240235 CM G A Missense p.P529S c.1585C>T 3 167240236 CM G A Missense p.R10H c.29G>A 3 167322163 COREAD G A Missense p.S423L c.1268C>T 3 167246922 CM G A Missense p.S470L c.1409C>T 3 167245747 CM G A Missense p.S480F c.1439C>T 3 167245717 CM G A Missense p.S496F c.1487C>T 3 167245669 LUAD G A Missense p.S545F c.1634C>T 3 167240187 CM G A Missense p.S548F c.1643C>T 3 167240178 LUSC G A Missense p.S7L c.20C>T 3 167322172 COREAD G A Missense p.T259I c.776C>T 3 167254780 CM G A Missense p.T296I c.887C>T 3 167254669 CM G A Missense p.T299M c.896C>T 3 167254660 BLCA G A Missense p.T466I c.1397C>T 3 167245759 CM G A Nonsense p.R262* c.784C>T 3 167254772 CM G A Synonymous p.F114F c.342C>T 3 167293850 CM G A Synonymous p.F527F c.1581C>T 3 167240240 CM G A Synonymous p.F609F c.1827C>T 3 167223096 STAD G A Synonymous p.F70F c.210C>T 3 167319957 CM G A Synonymous p.G60G c.180C>T 3 167319987 CM G A Synonymous p.G60G c.180C>T 3 167319987 STAD G A Synonymous p.H317H c.951C>T 3 167250713 CM G A Synonymous p.I195I c.585C>T 3 167277918 CM G A Synonymous p.I271I c.813C>T 3 167254743 CM G A Synonymous p.L31L c.93C>T 3 167322099 CM G A Synonymous p.N192N c.576C>T 3 167277927 STAD G A Synonymous p.P347P c.1041C>T 3 167249024 CM G A Synonymous p.S456S c.1368C>T 3 167245788 CM G C Missense p.A24G c.71C>G 3 167322121 LUAD G C Missense p.H418D c.1252C>G 3 167246938 LUAD G C Missense p.S423W c.1268C>G 3 167246922 LUSC G - Frameshift p.D201Mfs*8 c.598delC 3 167277905 BRCA GG AA Missense p.H120Y c.357_358delinsTT 3 167293834 CM G T Missense p.L297I c.889C>A 3 167254667 LUAD G T Missense p.L77I c.229C>A 3 167319938 PRAD G T Missense p.P293H c.878C>A 3 167254678 OV G T Missense p.P322T c.964C>A 3 167250700 LUAD G T Missense p.P624H c.1871C>A 3 167218045 SCLC G T Missense p.S545Y c.1634C>A 3 167240187 UCEC G T Nonsense p.S240* c.719C>A 3 167272519 SCLC G T Synonymous p.R206R c.616C>A 3 167277887 HC T A Missense p.E537D c.1611A>T 3 167240210 ESCA T A Missense p.K277I c.830A>T 3 167254726 LUSC T A Missense p.K277N c.831A>T 3 167254725 ESCA T A Missense p.Q281L c.842A>T 3 167254714 LUAD T A Missense p.R531S c.1593A>T 3 167240228 LUAD T A Missense p.S211C c.631A>T 3 167277872 LUAD T A Nonsense p.K542* c.1624A>T 3 167240197 HNSC T A Synonymous p.A150A c.450A>T 3 167293742 LUSC T A Synonymous p.L561L c.1683A>T 3 167240138 SCLC T C Missense p.D579G c.1736A>G 3 167223187 BRCA T C Missense p.I66M c.198A>G 3 167319969 STAD T C Missense p.K637E c.1909A>G 3 167218007 CM T C Missense p.K696E c.2086A>G 3 167196674 HC T C Missense p.N32S c.95A>G 3 167322097 LUAD T C Missense p.N391D c.1171A>G 3 167247019 CM T C Missense p.R589G c.1765A>G 3 167223158 LUSC T C SpliceAcceptorSNV . c.1351-2A>G 3 167245807 LUSC T C Synonymous p.K637K c.1911A>G 3 167218005 MB T C Synonymous p.R344R c.1032A>G 3 167249033 CM T G Missense p.E305A c.914A>C 3 167250750 OV T G Missense p.E305A c.914A>C 3 167250750 RCCC T G Missense p.K42Q c.124A>C 3 167320043 BRCA T G Missense p.K42T c.125A>C 3 167320042 HNSC T G Missense p.K672Q c.2014A>C 3 167196746 HNSC - TTCAAGATA Frameshift p.K161Ifs*3 c.481_482insTATCTTGAA 3 167293710 LUAD