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 7 38431436 38431436 + Silent SNP C C T TCGA-OR-A5KT-01A-11D-A29I-10 TCGA-OR-A5KT-10A-01D-A29L-10 g.chr7:38431436C>T c.1791G>A c.(1789-1791)acG>acA p.T597T ACC 7 38466556 38466556 + Missense_Mutation SNP G G C TCGA-OR-A5JP-01A-11D-A29I-10 TCGA-OR-A5JP-10A-01D-A29L-10 g.chr7:38466556G>C c.1213C>G c.(1213-1215)Cag>Gag p.Q405E ACC 7 38500996 38500996 + Missense_Mutation SNP G G A TCGA-OR-A5JF-01A-11D-A29I-10 TCGA-OR-A5JF-10A-01D-A29L-10 g.chr7:38500996G>A c.904C>T c.(904-906)Cct>Tct p.P302S BLCA 7 38424443 38424443 + Silent SNP C C T TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr7:38424443C>T c.2064G>A c.(2062-2064)gaG>gaA p.E688E BLCA 7 38431407 38431407 + Missense_Mutation SNP T T C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 g.chr7:38431407T>C c.1820A>G c.(1819-1821)gAc>gGc p.D607G BLCA 7 38431490 38431490 + Silent SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 g.chr7:38431490G>A c.1737C>T c.(1735-1737)agC>agT p.S579S BLCA 7 38457532 38457532 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 g.chr7:38457532G>A c.1291C>T c.(1291-1293)Cca>Tca p.P431S BLCA 7 38475976 38475976 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 g.chr7:38475976C>T c.1030G>A c.(1030-1032)Gag>Aag p.E344K BLCA 7 38500927 38500927 + Missense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 g.chr7:38500927C>T c.973G>A c.(973-975)Gag>Aag p.E325K BLCA 7 38500984 38500984 + Silent SNP G G A TCGA-HQ-A5NE-01A-12D-A289-08 TCGA-HQ-A5NE-10A-01D-A289-08 g.chr7:38500984G>A c.916C>T c.(916-918)Cta>Tta p.L306L BLCA 7 38516466 38516466 + Missense_Mutation SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 g.chr7:38516466G>A c.500C>T c.(499-501)tCt>tTt p.S167F BLCA 7 38543250 38543250 + Splice_Site SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 g.chr7:38543250C>T c.205G>A c.(205-207)Ggc>Agc p.G69S BRCA 7 38424484 38424484 + Nonsense_Mutation SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 g.chr7:38424484G>A c.2023C>T c.(2023-2025)Cag>Tag p.Q675* BRCA 7 38424487 38424487 + Missense_Mutation SNP G G A TCGA-D8-A27H-01A-11D-A16D-09 TCGA-D8-A27H-10A-01D-A16D-09 g.chr7:38424487G>A c.2020C>T c.(2020-2022)Ctt>Ttt p.L674F BRCA 7 38429447 38429447 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr7:38429447A>C c.1938T>G c.(1936-1938)ggT>ggG p.G646G BRCA 7 38431426 38431426 + Missense_Mutation SNP G G T TCGA-E2-A15C-01A-31D-A12B-09 TCGA-E2-A15C-10A-01D-A12B-09 g.chr7:38431426G>T c.1801C>A c.(1801-1803)Cca>Aca p.P601T BRCA 7 38431512 38431512 + Missense_Mutation SNP G G A TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 g.chr7:38431512G>A c.1715C>T c.(1714-1716)gCg>gTg p.A572V BRCA 7 38431520 38431520 + Silent SNP G G A TCGA-AC-A2FG-01A-11D-A17D-09 TCGA-AC-A2FG-11A-22D-A17D-09 g.chr7:38431520G>A c.1707C>T c.(1705-1707)acC>acT p.T569T BRCA 7 38471799 38471799 + Missense_Mutation SNP T T A TCGA-AR-A24V-01A-21D-A167-09 TCGA-AR-A24V-10A-01D-A167-09 g.chr7:38471799T>A c.1148A>T c.(1147-1149)gAc>gTc p.D383V BRCA 7 38475929 38475929 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chr7:38475929G>C c.1077C>G c.(1075-1077)ttC>ttG p.F359L BRCA 7 38502653 38502653 + Silent SNP G G T TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 g.chr7:38502653G>T c.810C>A c.(808-810)ctC>ctA p.L270L CESC 7 38431444 38431444 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr7:38431444G>A c.1783C>T c.(1783-1785)Cag>Tag p.Q595* CESC 7 38500909 38500909 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr7:38500909C>G c.991G>C c.(991-993)Gaa>Caa p.E331Q COAD 7 38424500 38424500 + Missense_Mutation SNP C C A TCGA-AA-A00Z-01A-01W-A005-10 TCGA-AA-A00Z-10A-01W-A005-10 g.chr7:38424500C>A c.2007G>T c.(2005-2007)aaG>aaT p.K669N COAD 7 38429469 38429469 + Missense_Mutation SNP T T C TCGA-DM-A0XF-01A-11D-A152-10 TCGA-DM-A0XF-10A-01D-A152-10 g.chr7:38429469T>C c.1916A>G c.(1915-1917)gAt>gGt p.D639G COAD 7 38429470 38429470 + Missense_Mutation SNP C C A TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr7:38429470C>A c.1915G>T c.(1915-1917)Gat>Tat p.D639Y COAD 7 38433614 38433614 + Silent SNP T T C TCGA-AA-3831-01A-01W-0900-09 TCGA-AA-3831-10A-01W-0900-09 g.chr7:38433614T>C c.1599A>G c.(1597-1599)acA>acG p.T533T COAD 7 38433619 38433619 + Missense_Mutation SNP C C A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr7:38433619C>A c.1594G>T c.(1594-1596)Gca>Tca p.A532S COAD 7 38433623 38433623 + Silent SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr7:38433623G>A c.1590C>T c.(1588-1590)ctC>ctT p.L530L COAD 7 38433732 38433732 + Missense_Mutation SNP G G A TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr7:38433732G>A c.1481C>T c.(1480-1482)gCg>gTg p.A494V COAD 7 38433754 38433754 + Frame_Shift_Del DEL C C - TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr7:38433754delC c.1459delG c.(1459-1461)gccfs p.A487fs COAD 7 38433801 38433801 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:38433801G>A c.1412C>T c.(1411-1413)gCt>gTt p.A471V COAD 7 38457447 38457447 + Missense_Mutation SNP T T C TCGA-D5-6538-01A-11D-1719-10 TCGA-D5-6538-10A-01D-1719-10 g.chr7:38457447T>C c.1376A>G c.(1375-1377)gAg>gGg p.E459G COAD 7 38502589 38502589 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr7:38502589G>A c.874C>T c.(874-876)Cgg>Tgg p.R292W COAD 7 38502595 38502595 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr7:38502595G>A c.868C>T c.(868-870)Cgg>Tgg p.R290W COAD 7 38502644 38502644 + Silent SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr7:38502644C>T c.819G>A c.(817-819)ccG>ccA p.P273P COAD 7 38502675 38502675 + Missense_Mutation SNP G G A TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr7:38502675G>A c.788C>T c.(787-789)cCg>cTg p.P263L COAD 7 38505084 38505084 + Silent SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr7:38505084G>A c.732C>T c.(730-732)acC>acT p.T244T COAD 7 38505102 38505102 + Silent SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr7:38505102G>A c.714C>T c.(712-714)caC>caT p.H238H COAD 7 38514995 38514995 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:38514995C>T c.526G>A c.(526-528)Gca>Aca p.A176T COAD 7 38516520 38516520 + Missense_Mutation SNP C C T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr7:38516520C>T c.446G>A c.(445-447)cGc>cAc p.R149H COAD 7 38516524 38516524 + Missense_Mutation SNP C C A TCGA-DM-A0XD-01A-12D-A152-10 TCGA-DM-A0XD-10A-01D-A152-10 g.chr7:38516524C>A c.442G>T c.(442-444)Gcc>Tcc p.A148S COAD 7 38543283 38543283 + Nonsense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:38543283G>A c.172C>T c.(172-174)Cga>Tga p.R58* COAD 7 38574539 38574539 + Missense_Mutation SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr7:38574539G>A c.142C>T c.(142-144)Cgg>Tgg p.R48W COAD 7 38574553 38574553 + Missense_Mutation SNP A A G TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr7:38574553A>G c.128T>C c.(127-129)gTc>gCc p.V43A COAD 7 38574564 38574564 + Silent SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr7:38574564G>A c.117C>T c.(115-117)ttC>ttT p.F39F COAD 7 38574603 38574603 + Silent SNP T T C TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr7:38574603T>C c.78A>G c.(76-78)caA>caG p.Q26Q COAD 7 38670906 38670906 + Nonsense_Mutation SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr7:38670906G>A c.46C>T c.(46-48)Cga>Tga p.R16* COADREAD 7 38424500 38424500 + Missense_Mutation SNP C C A TCGA-AA-A00Z-01A-01W-A005-10 TCGA-AA-A00Z-10A-01W-A005-10 g.chr7:38424500C>A c.2007G>T c.(2005-2007)aaG>aaT p.K669N COADREAD 7 38429469 38429469 + Missense_Mutation SNP T T C TCGA-DM-A0XF-01A-11D-A152-10 TCGA-DM-A0XF-10A-01D-A152-10 g.chr7:38429469T>C c.1916A>G c.(1915-1917)gAt>gGt p.D639G COADREAD 7 38429470 38429470 + Missense_Mutation SNP C C A TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr7:38429470C>A c.1915G>T c.(1915-1917)Gat>Tat p.D639Y COADREAD 7 38433614 38433614 + Silent SNP T T C TCGA-AA-3831-01A-01W-0900-09 TCGA-AA-3831-10A-01W-0900-09 g.chr7:38433614T>C c.1599A>G c.(1597-1599)acA>acG p.T533T COADREAD 7 38433619 38433619 + Missense_Mutation SNP C C A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr7:38433619C>A c.1594G>T c.(1594-1596)Gca>Tca p.A532S COADREAD 7 38433623 38433623 + Silent SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr7:38433623G>A c.1590C>T c.(1588-1590)ctC>ctT p.L530L COADREAD 7 38433672 38433672 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:38433672G>T c.1541C>A c.(1540-1542)aCt>aAt p.T514N COADREAD 7 38433732 38433732 + Missense_Mutation SNP G G A TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr7:38433732G>A c.1481C>T c.(1480-1482)gCg>gTg p.A494V COADREAD 7 38433754 38433754 + Frame_Shift_Del DEL C C - TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr7:38433754delC c.1459delG c.(1459-1461)gccfs p.A487fs COADREAD 7 38433801 38433801 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:38433801G>A c.1412C>T c.(1411-1413)gCt>gTt p.A471V COADREAD 7 38457447 38457447 + Missense_Mutation SNP T T C TCGA-D5-6538-01A-11D-1719-10 TCGA-D5-6538-10A-01D-1719-10 g.chr7:38457447T>C c.1376A>G c.(1375-1377)gAg>gGg p.E459G COADREAD 7 38502589 38502589 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr7:38502589G>A c.874C>T c.(874-876)Cgg>Tgg p.R292W COADREAD 7 38502589 38502589 + Missense_Mutation SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr7:38502589G>A c.874C>T c.(874-876)Cgg>Tgg p.R292W COADREAD 7 38502595 38502595 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr7:38502595G>A c.868C>T c.(868-870)Cgg>Tgg p.R290W COADREAD 7 38502644 38502644 + Silent SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr7:38502644C>T c.819G>A c.(817-819)ccG>ccA p.P273P COADREAD 7 38502675 38502675 + Missense_Mutation SNP G G A TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr7:38502675G>A c.788C>T c.(787-789)cCg>cTg p.P263L COADREAD 7 38505084 38505084 + Silent SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr7:38505084G>A c.732C>T c.(730-732)acC>acT p.T244T COADREAD 7 38505102 38505102 + Silent SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr7:38505102G>A c.714C>T c.(712-714)caC>caT p.H238H COADREAD 7 38514995 38514995 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:38514995C>T c.526G>A c.(526-528)Gca>Aca p.A176T COADREAD 7 38516520 38516520 + Missense_Mutation SNP C C T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr7:38516520C>T c.446G>A c.(445-447)cGc>cAc p.R149H COADREAD 7 38516524 38516524 + Missense_Mutation SNP C C A TCGA-DM-A0XD-01A-12D-A152-10 TCGA-DM-A0XD-10A-01D-A152-10 g.chr7:38516524C>A c.442G>T c.(442-444)Gcc>Tcc p.A148S COADREAD 7 38516554 38516554 + Missense_Mutation SNP G G A TCGA-DY-A1DF-01A-11D-A152-10 TCGA-DY-A1DF-10A-01D-A152-10 g.chr7:38516554G>A c.412C>T c.(412-414)Cgc>Tgc p.R138C COADREAD 7 38534123 38534123 + Missense_Mutation SNP C C A TCGA-AG-3731-01A-11D-1733-10 TCGA-AG-3731-11A-01D-1733-10 g.chr7:38534123C>A c.210G>T c.(208-210)atG>atT p.M70I COADREAD 7 38543283 38543283 + Nonsense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:38543283G>A c.172C>T c.(172-174)Cga>Tga p.R58* COADREAD 7 38574539 38574539 + Missense_Mutation SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr7:38574539G>A c.142C>T c.(142-144)Cgg>Tgg p.R48W COADREAD 7 38574553 38574553 + Missense_Mutation SNP A A G TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr7:38574553A>G c.128T>C c.(127-129)gTc>gCc p.V43A COADREAD 7 38574564 38574564 + Silent SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr7:38574564G>A c.117C>T c.(115-117)ttC>ttT p.F39F COADREAD 7 38574603 38574603 + Silent SNP T T C TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr7:38574603T>C c.78A>G c.(76-78)caA>caG p.Q26Q COADREAD 7 38670906 38670906 + Nonsense_Mutation SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr7:38670906G>A c.46C>T c.(46-48)Cga>Tga p.R16* ESCA 7 38431352 38431352 + Nonsense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 g.chr7:38431352G>T c.1875C>A c.(1873-1875)taC>taA p.Y625* ESCA 7 38502672 38502672 + Missense_Mutation SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 g.chr7:38502672G>A c.791C>T c.(790-792)cCt>cTt p.P264L ESCA 7 38670935 38670935 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 g.chr7:38670935G>A c.17C>T c.(16-18)aCg>aTg p.T6M GBM 7 38471801 38471801 + Nonsense_Mutation SNP C C T TCGA-06-5418-01A-01D-1486-08 TCGA-06-5418-10A-01D-1486-08 g.chr7:38471801C>T c.1146G>A c.(1144-1146)tgG>tgA p.W382* GBM 7 38516553 38516553 + Missense_Mutation SNP C C T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 g.chr7:38516553C>T c.413G>A c.(412-414)cGc>cAc p.R138H GBM 7 38516566 38516566 + Missense_Mutation SNP G G A TCGA-27-2519-01A-01D-1494-08 TCGA-27-2519-10A-01D-1494-08 g.chr7:38516566G>A c.400C>T c.(400-402)Cgc>Tgc p.R134C GBM 7 38530706 38530706 + Missense_Mutation SNP C C T TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 g.chr7:38530706C>T c.340G>A c.(340-342)Gtg>Atg p.V114M GBMLGG 7 38471801 38471801 + Nonsense_Mutation SNP C C T TCGA-06-5418-01A-01D-1486-08 TCGA-06-5418-10A-01D-1486-08 g.chr7:38471801C>T c.1146G>A c.(1144-1146)tgG>tgA p.W382* GBMLGG 7 38516553 38516553 + Missense_Mutation SNP C C T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 g.chr7:38516553C>T c.413G>A c.(412-414)cGc>cAc p.R138H GBMLGG 7 38516566 38516566 + Missense_Mutation SNP G G A TCGA-27-2519-01A-01D-1494-08 TCGA-27-2519-10A-01D-1494-08 g.chr7:38516566G>A c.400C>T c.(400-402)Cgc>Tgc p.R134C GBMLGG 7 38530706 38530706 + Missense_Mutation SNP C C T TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 g.chr7:38530706C>T c.340G>A c.(340-342)Gtg>Atg p.V114M HNSC 7 38424475 38424475 + Missense_Mutation SNP C C G TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 g.chr7:38424475C>G c.2032G>C c.(2032-2034)Gac>Cac p.D678H HNSC 7 38424508 38424508 + Missense_Mutation SNP C C T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 g.chr7:38424508C>T c.1999G>A c.(1999-2001)Gga>Aga p.G667R HNSC 7 38431464 38431464 + Missense_Mutation SNP T T A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 g.chr7:38431464T>A c.1763A>T c.(1762-1764)cAg>cTg p.Q588L HNSC 7 38431514 38431514 + Silent SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 g.chr7:38431514G>A c.1713C>T c.(1711-1713)gaC>gaT p.D571D HNSC 7 38431519 38431519 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr7:38431519C>T c.1708G>A c.(1708-1710)Gag>Aag p.E570K HNSC 7 38433623 38433623 + Silent SNP G G T TCGA-CV-5439-01A-01D-1683-08 TCGA-CV-5439-11B-01D-1683-08 g.chr7:38433623G>T c.1590C>A c.(1588-1590)ctC>ctA p.L530L HNSC 7 38433765 38433765 + Missense_Mutation SNP G G A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 g.chr7:38433765G>A c.1448C>T c.(1447-1449)gCa>gTa p.A483V HNSC 7 38462075 38462075 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr7:38462075G>A c.1218C>T c.(1216-1218)ccC>ccT p.P406P HNSC 7 38462076 38462076 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr7:38462076G>A c.1217C>T c.(1216-1218)cCc>cTc p.P406L HNSC 7 38466556 38466556 + Missense_Mutation SNP G G T TCGA-BB-7870-01A-11D-2229-08 TCGA-BB-7870-10A-01D-2229-08 g.chr7:38466556G>T c.1213C>A c.(1213-1215)Cag>Aag p.Q405K HNSC 7 38471787 38471787 + Splice_Site SNP A A G TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chr7:38471787A>G c.e13+1 HNSC 7 38471788 38471788 + Splice_Site DEL C C - TCGA-CV-7248-01A-11D-2012-08 TCGA-CV-7248-10A-01D-2013-08 g.chr7:38471788delC c.e13+1 HNSC 7 38475887 38475887 + Missense_Mutation SNP G G C TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 g.chr7:38475887G>C c.1119C>G c.(1117-1119)caC>caG p.H373Q HNSC 7 38502594 38502594 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 g.chr7:38502594C>T c.869G>A c.(868-870)cGg>cAg p.R290Q HNSC 7 38505100 38505100 + Missense_Mutation SNP G G C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 g.chr7:38505100G>C c.716C>G c.(715-717)gCc>gGc p.A239G HNSC 7 38505847 38505847 + Splice_Site SNP G G A TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 g.chr7:38505847G>A c.592C>T c.(592-594)Cga>Tga p.R198* HNSC 7 38530673 38530673 + Missense_Mutation SNP G G T TCGA-CV-7248-01A-11D-2012-08 TCGA-CV-7248-10A-01D-2013-08 g.chr7:38530673G>T c.373C>A c.(373-375)Ctg>Atg p.L125M HNSC 7 38530702 38530702 + Missense_Mutation SNP T T C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 g.chr7:38530702T>C c.344A>G c.(343-345)gAt>gGt p.D115G HNSC 7 38530704 38530704 + Silent SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 g.chr7:38530704C>G c.342G>C c.(340-342)gtG>gtC p.V114V HNSC 7 38530746 38530746 + Splice_Site SNP C C G TCGA-CR-7390-01A-11D-2012-08 TCGA-CR-7390-10A-01D-2013-08 g.chr7:38530746C>G c.e5-1 KIPAN 7 38429478 38429478 + Missense_Mutation SNP G G A TCGA-BP-4801-01A-02D-1421-08 TCGA-BP-4801-11A-01D-1421-08 g.chr7:38429478G>A c.1907C>T c.(1906-1908)gCa>gTa p.A636V KIPAN 7 38431539 38431539 + Missense_Mutation SNP G G A TCGA-CZ-5462-01A-01D-1501-10 TCGA-CZ-5462-11A-01D-1501-10 g.chr7:38431539G>A c.1688C>T c.(1687-1689)gCa>gTa p.A563V KIPAN 7 38431574 38431574 + Frame_Shift_Del DEL A A - TCGA-A4-8630-01A-11D-2396-08 TCGA-A4-8630-10A-01D-2396-08 g.chr7:38431574delA c.1653delT c.(1651-1653)catfs p.H551fs KIPAN 7 38530710 38530710 + Missense_Mutation SNP T T A TCGA-BP-4983-01A-01D-1462-08 TCGA-BP-4983-11A-01D-1462-08 g.chr7:38530710T>A c.336A>T c.(334-336)aaA>aaT p.K112N KIRC 7 38429478 38429478 + Missense_Mutation SNP G G A TCGA-BP-4801-01A-02D-1421-08 TCGA-BP-4801-11A-01D-1421-08 g.chr7:38429478G>A c.1907C>T c.(1906-1908)gCa>gTa p.A636V KIRC 7 38431539 38431539 + Missense_Mutation SNP G G A TCGA-CZ-5462-01A-01D-1501-10 TCGA-CZ-5462-11A-01D-1501-10 g.chr7:38431539G>A c.1688C>T c.(1687-1689)gCa>gTa p.A563V KIRC 7 38530710 38530710 + Missense_Mutation SNP T T A TCGA-BP-4983-01A-01D-1462-08 TCGA-BP-4983-11A-01D-1462-08 g.chr7:38530710T>A c.336A>T c.(334-336)aaA>aaT p.K112N KIRP 7 38431574 38431574 + Frame_Shift_Del DEL A A - TCGA-A4-8630-01A-11D-2396-08 TCGA-A4-8630-10A-01D-2396-08 g.chr7:38431574delA c.1653delT c.(1651-1653)catfs p.H551fs LIHC 7 38429486 38429486 + Silent SNP A A G TCGA-G3-AAV6-01A-21D-A36X-10 TCGA-G3-AAV6-10A-01D-A370-10 g.chr7:38429486A>G c.1899T>C c.(1897-1899)ttT>ttC p.F633F LIHC 7 38431545 38431545 + Missense_Mutation SNP A A G TCGA-DD-A3A1-01A-11D-A20W-10 TCGA-DD-A3A1-11A-11D-A20W-10 g.chr7:38431545A>G c.1682T>C c.(1681-1683)aTa>aCa p.I561T LIHC 7 38457451 38457451 + Missense_Mutation SNP C C A TCGA-CC-A7II-01A-11D-A33K-10 TCGA-CC-A7II-10A-01D-A33K-10 g.chr7:38457451C>A c.1372G>T c.(1372-1374)Gct>Tct p.A458S LIHC 7 38457492 38457492 + Missense_Mutation SNP A A G TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr7:38457492A>G c.1331T>C c.(1330-1332)gTc>gCc p.V444A LIHC 7 38500915 38500915 + Missense_Mutation SNP C C A TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr7:38500915C>A c.985G>T c.(985-987)Gtt>Ttt p.V329F LIHC 7 38500941 38500941 + Missense_Mutation SNP A A T TCGA-G3-AAV3-01A-11D-A36X-10 TCGA-G3-AAV3-10A-01D-A370-10 g.chr7:38500941A>T c.959T>A c.(958-960)aTc>aAc p.I320N LIHC 7 38505102 38505102 + Missense_Mutation SNP G G C TCGA-ED-A8O5-01A-11D-A35Z-10 TCGA-ED-A8O5-10A-01D-A35Z-10 g.chr7:38505102G>C c.714C>G c.(712-714)caC>caG p.H238Q LIHC 7 38543259 38543259 + Missense_Mutation SNP C C A TCGA-2Y-A9H7-01A-11D-A38X-10 TCGA-2Y-A9H7-10A-01D-A38X-10 g.chr7:38543259C>A c.196G>T c.(196-198)Gca>Tca p.A66S LIHC 7 38670937 38670937 + Missense_Mutation SNP C C A TCGA-MI-A75H-01A-11D-A32G-10 TCGA-MI-A75H-10A-01D-A32G-10 g.chr7:38670937C>A c.15G>T c.(13-15)aaG>aaT p.K5N LUAD 7 38424435 38424435 + Missense_Mutation SNP G G T TCGA-05-5425-01A-02D-1625-08 TCGA-05-5425-10A-01D-1625-08 g.chr7:38424435G>T c.2072C>A c.(2071-2073)aCc>aAc p.T691N LUAD 7 38424457 38424457 + Missense_Mutation SNP C C G TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr7:38424457C>G c.2050G>C c.(2050-2052)Ggc>Cgc p.G684R LUAD 7 38424511 38424511 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr7:38424511C>A c.1996G>T c.(1996-1998)Gtg>Ttg p.V666L LUAD 7 38431501 38431501 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 g.chr7:38431501C>A c.1726G>T c.(1726-1728)Ggc>Tgc p.G576C LUAD 7 38431502 38431502 + Silent SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 g.chr7:38431502C>T c.1725G>A c.(1723-1725)ccG>ccA p.P575P LUAD 7 38431514 38431514 + Silent SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 g.chr7:38431514G>A c.1713C>T c.(1711-1713)gaC>gaT p.D571D LUAD 7 38431514 38431514 + Silent SNP G G A TCGA-97-8174-01A-11D-2284-08 TCGA-97-8174-10A-01D-2284-08 g.chr7:38431514G>A c.1713C>T c.(1711-1713)gaC>gaT p.D571D LUAD 7 38431610 38431610 + Silent SNP G G A TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr7:38431610G>A c.1617C>T c.(1615-1617)gtC>gtT p.V539V LUAD 7 38431616 38431616 + Missense_Mutation SNP C C A TCGA-55-8620-01A-11D-2393-08 TCGA-55-8620-10A-01D-2393-08 g.chr7:38431616C>A c.1611G>T c.(1609-1611)gaG>gaT p.E537D LUAD 7 38433689 38433689 + Silent SNP C C T TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr7:38433689C>T c.1524G>A c.(1522-1524)gaG>gaA p.E508E LUAD 7 38433708 38433708 + Missense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 g.chr7:38433708C>A c.1505G>T c.(1504-1506)gGg>gTg p.G502V LUAD 7 38433709 38433709 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr7:38433709C>A c.1504G>T c.(1504-1506)Ggg>Tgg p.G502W LUAD 7 38433709 38433709 + Missense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 g.chr7:38433709C>T c.1504G>A c.(1504-1506)Ggg>Agg p.G502R LUAD 7 38433710 38433710 + Frame_Shift_Del DEL G G - TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 g.chr7:38433710delG c.1503delC c.(1501-1503)gccfs p.A501fs LUAD 7 38433714 38433714 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr7:38433714G>T c.1499C>A c.(1498-1500)cCt>cAt p.P500H LUAD 7 38457456 38457456 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr7:38457456G>C c.1367C>G c.(1366-1368)aCt>aGt p.T456S LUAD 7 38462040 38462040 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 g.chr7:38462040T>A c.1253A>T c.(1252-1254)cAg>cTg p.Q418L LUAD 7 38462075 38462075 + Silent SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 g.chr7:38462075G>T c.1218C>A c.(1216-1218)ccC>ccA p.P406P LUAD 7 38471793 38471793 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 g.chr7:38471793C>A c.1154G>T c.(1153-1155)tGg>tTg p.W385L LUAD 7 38471802 38471802 + Missense_Mutation SNP C C A TCGA-17-Z018-01A-01W-0746-08 TCGA-17-Z018-11A-01W-0746-08 g.chr7:38471802C>A c.1145G>T c.(1144-1146)tGg>tTg p.W382L LUAD 7 38500884 38500884 + Splice_Site SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr7:38500884T>A c.1016A>T c.(1015-1017)cAg>cTg p.Q339L LUAD 7 38500890 38500890 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 g.chr7:38500890G>T c.1010C>A c.(1009-1011)cCt>cAt p.P337H LUAD 7 38500951 38500951 + Missense_Mutation SNP G G T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr7:38500951G>T c.949C>A c.(949-951)Cag>Aag p.Q317K LUAD 7 38502605 38502605 + Frame_Shift_Del DEL G G - TCGA-44-6776-01A-11D-1855-08 TCGA-44-6776-10A-01D-1855-08 g.chr7:38502605delG c.858delC c.(856-858)cccfs p.P286fs LUAD 7 38505777 38505777 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 g.chr7:38505777G>C c.662C>G c.(661-663)gCg>gGg p.A221G LUAD 7 38505846 38505846 + Missense_Mutation SNP C C A TCGA-MP-A4TC-01A-11D-A24P-08 TCGA-MP-A4TC-10A-01D-A24P-08 g.chr7:38505846C>A c.593G>T c.(592-594)cGa>cTa p.R198L LUAD 7 38514960 38514960 + Silent SNP T T C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 g.chr7:38514960T>C c.561A>G c.(559-561)ttA>ttG p.L187L LUAD 7 38516472 38516472 + Missense_Mutation SNP C C G TCGA-55-A48Y-01A-11D-A24D-08 TCGA-55-A48Y-10A-01D-A24F-08 g.chr7:38516472C>G c.494G>C c.(493-495)cGa>cCa p.R165P LUAD 7 38530661 38530661 + Missense_Mutation SNP G G A TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr7:38530661G>A c.385C>T c.(385-387)Cct>Tct p.P129S LUAD 7 38530667 38530667 + Missense_Mutation SNP G G C TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr7:38530667G>C c.379C>G c.(379-381)Caa>Gaa p.Q127E LUAD 7 38530670 38530670 + Missense_Mutation SNP C C A TCGA-17-Z010-01A-01W-0746-08 TCGA-17-Z010-11A-01W-0746-08 g.chr7:38530670C>A c.376G>T c.(376-378)Ggg>Tgg p.G126W LUAD 7 38530677 38530677 + Silent SNP G G T TCGA-NJ-A55A-01A-11D-A25L-08 TCGA-NJ-A55A-10A-01D-A25L-08 g.chr7:38530677G>T c.369C>A c.(367-369)acC>acA p.T123T LUSC 7 38424479 38424479 + Nonsense_Mutation SNP G G T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr7:38424479G>T c.2028C>A c.(2026-2028)taC>taA p.Y676* LUSC 7 38431391 38431391 + Silent SNP T T A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 g.chr7:38431391T>A c.1836A>T c.(1834-1836)gcA>gcT p.A612A LUSC 7 38431426 38431426 + Missense_Mutation SNP G G T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 g.chr7:38431426G>T c.1801C>A c.(1801-1803)Cca>Aca p.P601T LUSC 7 38431468 38431468 + Missense_Mutation SNP C C G TCGA-66-2768-01A-01D-1522-08 TCGA-66-2768-11A-01D-1522-08 g.chr7:38431468C>G c.1759G>C c.(1759-1761)Gag>Cag p.E587Q LUSC 7 38433815 38433815 + Splice_Site SNP C C G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 g.chr7:38433815C>G c.e18-1 LUSC 7 38471793 38471793 + Missense_Mutation SNP C C A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 g.chr7:38471793C>A c.1154G>T c.(1153-1155)tGg>tTg p.W385L LUSC 7 38471795 38471795 + Silent SNP T T C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 g.chr7:38471795T>C c.1152A>G c.(1150-1152)ctA>ctG p.L384L LUSC 7 38475876 38475876 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr7:38475876G>A c.1130C>T c.(1129-1131)tCt>tTt p.S377F LUSC 7 38475876 38475876 + Missense_Mutation SNP G G C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 g.chr7:38475876G>C c.1130C>G c.(1129-1131)tCt>tGt p.S377C LUSC 7 38502604 38502604 + Missense_Mutation SNP C C T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 g.chr7:38502604C>T c.859G>A c.(859-861)Gca>Aca p.A287T LUSC 7 38502670 38502670 + Nonsense_Mutation SNP C C A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr7:38502670C>A c.793G>T c.(793-795)Gag>Tag p.E265* LUSC 7 38505102 38505102 + Missense_Mutation SNP G G C TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 g.chr7:38505102G>C c.714C>G c.(712-714)caC>caG p.H238Q LUSC 7 38516551 38516551 + Missense_Mutation SNP T T A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 g.chr7:38516551T>A c.415A>T c.(415-417)Agc>Tgc p.S139C OV 7 38429468 38429468 + Silent SNP A A G TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 g.chr7:38429468A>G c.1917T>C c.(1915-1917)gaT>gaC p.D639D OV 7 38505071 38505071 + Missense_Mutation SNP G G A TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 g.chr7:38505071G>A c.745C>T c.(745-747)Ccc>Tcc p.P249S OV 7 38505849 38505849 + Splice_Site SNP C C T TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 g.chr7:38505849C>T c.e8-1 PAAD 7 38433731 38433731 + Silent SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 g.chr7:38433731C>T c.1482G>A c.(1480-1482)gcG>gcA p.A494A PAAD 7 38471789 38471789 + Splice_Site SNP C C T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr7:38471789C>T c.1158G>A c.(1156-1158)acG>acA p.T386T PAAD 7 38475924 38475924 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:38475924G>A c.1082C>T c.(1081-1083)cCc>cTc p.P361L PAAD 7 38502604 38502604 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:38502604C>T c.859G>A c.(859-861)Gca>Aca p.A287T PAAD 7 38502605 38502605 + Silent SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 g.chr7:38502605G>A c.858C>T c.(856-858)ccC>ccT p.P286P PAAD 7 38543262 38543262 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:38543262C>A c.193G>T c.(193-195)Gca>Tca p.A65S READ 7 38433672 38433672 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:38433672G>T c.1541C>A c.(1540-1542)aCt>aAt p.T514N READ 7 38502589 38502589 + Missense_Mutation SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr7:38502589G>A c.874C>T c.(874-876)Cgg>Tgg p.R292W READ 7 38516554 38516554 + Missense_Mutation SNP G G A TCGA-DY-A1DF-01A-11D-A152-10 TCGA-DY-A1DF-10A-01D-A152-10 g.chr7:38516554G>A c.412C>T c.(412-414)Cgc>Tgc p.R138C READ 7 38534123 38534123 + Missense_Mutation SNP C C A TCGA-AG-3731-01A-11D-1733-10 TCGA-AG-3731-11A-01D-1733-10 g.chr7:38534123C>A c.210G>T c.(208-210)atG>atT p.M70I SKCM 7 38424437 38424437 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:38424437G>A c.2070C>T c.(2068-2070)ttC>ttT p.F690F SKCM 7 38424445 38424445 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 g.chr7:38424445C>T c.2062G>A c.(2062-2064)Gag>Aag p.E688K SKCM 7 38424484 38424484 + Nonsense_Mutation SNP G G A TCGA-EE-A2MU-06A-21D-A196-08 TCGA-EE-A2MU-10A-01D-A198-08 g.chr7:38424484G>A c.2023C>T c.(2023-2025)Cag>Tag p.Q675* SKCM 7 38429504 38429504 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr7:38429504C>T c.1881G>A c.(1879-1881)gtG>gtA p.V627V SKCM 7 38431387 38431387 + Nonsense_Mutation SNP C C A TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr7:38431387C>A c.1840G>T c.(1840-1842)Gag>Tag p.E614* SKCM 7 38431535 38431535 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr7:38431535C>T c.1692G>A c.(1690-1692)gaG>gaA p.E564E SKCM 7 38431555 38431555 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr7:38431555C>T c.1672G>A c.(1672-1674)Gaa>Aaa p.E558K SKCM 7 38431605 38431605 + Missense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr7:38431605G>A c.1622C>T c.(1621-1623)cCt>cTt p.P541L SKCM 7 38433605 38433605 + Splice_Site SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr7:38433605C>T c.1608G>A c.(1606-1608)caG>caA p.Q536Q SKCM 7 38433628 38433628 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:38433628C>T c.1585G>A c.(1585-1587)Gag>Aag p.E529K SKCM 7 38433665 38433665 + Silent SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr7:38433665G>A c.1548C>T c.(1546-1548)acC>acT p.T516T SKCM 7 38433665 38433665 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr7:38433665G>A c.1548C>T c.(1546-1548)acC>acT p.T516T SKCM 7 38433666 38433666 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 g.chr7:38433666G>A c.1547C>T c.(1546-1548)aCc>aTc p.T516I SKCM 7 38433676 38433676 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr7:38433676C>T c.1537G>A c.(1537-1539)Gga>Aga p.G513R SKCM 7 38433715 38433715 + Missense_Mutation SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr7:38433715G>A c.1498C>T c.(1498-1500)Cct>Tct p.P500S SKCM 7 38457541 38457541 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr7:38457541C>T c.1282G>A c.(1282-1284)Gaa>Aaa p.E428K SKCM 7 38500904 38500904 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 g.chr7:38500904G>A c.996C>T c.(994-996)atC>atT p.I332I SKCM 7 38500937 38500937 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr7:38500937G>A c.963C>T c.(961-963)atC>atT p.I321I SKCM 7 38500990 38500990 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr7:38500990G>A c.910C>T c.(910-912)Cca>Tca p.P304S SKCM 7 38516566 38516566 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:38516566G>A c.400C>T c.(400-402)Cgc>Tgc p.R134C SKCM 7 38530661 38530661 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 g.chr7:38530661G>A c.385C>T c.(385-387)Cct>Tct p.P129S SKCM 7 38534056 38534056 + Missense_Mutation SNP C C T TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr7:38534056C>T c.277G>A c.(277-279)Gaa>Aaa p.E93K SKCM 7 38534086 38534086 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr7:38534086C>T c.247G>A c.(247-249)Gaa>Aaa p.E83K SKCM 7 38534094 38534094 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr7:38534094G>A c.239C>T c.(238-240)tCg>tTg p.S80L SKCM 7 38543259 38543259 + Missense_Mutation SNP C C T TCGA-EE-A2GT-06A-12D-A197-08 TCGA-EE-A2GT-10A-01D-A199-08 g.chr7:38543259C>T c.196G>A c.(196-198)Gca>Aca p.A66T SKCM 7 38574543 38574543 + Silent SNP G G A TCGA-EE-A3AH-06A-11D-A196-08 TCGA-EE-A3AH-10A-01D-A198-08 g.chr7:38574543G>A c.138C>T c.(136-138)ttC>ttT p.F46F SKCM 7 38574563 38574563 + Missense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr7:38574563C>T c.118G>A c.(118-120)Gaa>Aaa p.E40K SKCM 7 38574572 38574572 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:38574572C>T c.109G>A c.(109-111)Gaa>Aaa p.E37K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 7 38431481 38431481 single base substitution C A downstream_gene_variant BLCA-CN 7 38431481 38431481 single base substitution C A exon_variant BLCA-CN 7 38431481 38431481 single base substitution C A synonymous_variant P464P 1392G>T BLCA-CN 7 38431481 38431481 single base substitution C A synonymous_variant P540P 1620G>T BLCA-CN 7 38431481 38431481 single base substitution C A synonymous_variant P582P 1746G>T BLCA-CN 7 38574539 38574539 single base substitution G A missense_variant R48W 142C>T BLCA-US 7 38431407 38431407 single base substitution T C downstream_gene_variant BLCA-US 7 38431407 38431407 single base substitution T C exon_variant BLCA-US 7 38431407 38431407 single base substitution T C missense_variant D489G 1466A>G BLCA-US 7 38431407 38431407 single base substitution T C missense_variant D565G 1694A>G BLCA-US 7 38431407 38431407 single base substitution T C missense_variant D607G 1820A>G BLCA-US 7 38431490 38431490 single base substitution G A downstream_gene_variant BLCA-US 7 38431490 38431490 single base substitution G A exon_variant BLCA-US 7 38431490 38431490 single base substitution G A synonymous_variant S461S 1383C>T BLCA-US 7 38431490 38431490 single base substitution G A synonymous_variant S537S 1611C>T BLCA-US 7 38431490 38431490 single base substitution G A synonymous_variant S579S 1737C>T BLCA-US 7 38475976 38475976 single base substitution C T missense_variant E344K 1030G>A BLCA-US 7 38475976 38475976 single base substitution C T missense_variant E94K 280G>A BLCA-US 7 38500927 38500927 single base substitution C T missense_variant E325K 973G>A BLCA-US 7 38500927 38500927 single base substitution C T missense_variant E75K 223G>A BLCA-US 7 38543250 38543250 single base substitution C T missense_variant G69S 205G>A BOCA-FR 7 38624599 38624599 single base substitution T A intron_variant BOCA-FR 7 38626244 38626244 single base substitution A G intron_variant BOCA-FR 7 38628105 38628105 single base substitution G A intron_variant BRCA-EU 7 38418491 38418491 single base substitution C G downstream_gene_variant BRCA-EU 7 38419519 38419519 single base substitution A T downstream_gene_variant BRCA-EU 7 38420084 38420085 deletion of <=200bp TA - downstream_gene_variant BRCA-EU 7 38420085 38420085 single base substitution A C downstream_gene_variant BRCA-EU 7 38420400 38420400 single base substitution C G downstream_gene_variant BRCA-EU 7 38421209 38421209 single base substitution G C downstream_gene_variant BRCA-EU 7 38421220 38421220 single base substitution G A downstream_gene_variant BRCA-EU 7 38421978 38421978 single base substitution A G downstream_gene_variant BRCA-EU 7 38422074 38422074 single base substitution G T downstream_gene_variant BRCA-EU 7 38422830 38422830 single base substitution G T downstream_gene_variant BRCA-EU 7 38422958 38422958 single base substitution A G downstream_gene_variant BRCA-EU 7 38423406 38423432 deletion of <=200bp TTTTACTTTAGAACAATCTGTGAAGAT - 3_prime_UTR_variant BRCA-EU 7 38423406 38423432 deletion of <=200bp TTTTACTTTAGAACAATCTGTGAAGAT - downstream_gene_variant BRCA-EU 7 38423669 38423669 single base substitution C T 3_prime_UTR_variant BRCA-EU 7 38423669 38423669 single base substitution C T downstream_gene_variant BRCA-EU 7 38423670 38423670 single base substitution C T 3_prime_UTR_variant BRCA-EU 7 38423670 38423670 single base substitution C T downstream_gene_variant BRCA-EU 7 38424576 38424576 single base substitution C G downstream_gene_variant BRCA-EU 7 38424576 38424576 single base substitution C G intron_variant BRCA-EU 7 38424908 38424908 single base substitution C G downstream_gene_variant BRCA-EU 7 38424908 38424908 single base substitution C G intron_variant BRCA-EU 7 38424939 38424939 single base substitution A G downstream_gene_variant BRCA-EU 7 38424939 38424939 single base substitution A G intron_variant BRCA-EU 7 38425225 38425225 single base substitution G A downstream_gene_variant BRCA-EU 7 38425225 38425225 single base substitution G A intron_variant BRCA-EU 7 38425690 38425713 deletion of <=200bp AAATATAAGTATTTAGACAGCCCA - downstream_gene_variant BRCA-EU 7 38425690 38425713 deletion of <=200bp AAATATAAGTATTTAGACAGCCCA - intron_variant BRCA-EU 7 38425852 38425852 deletion of <=200bp T - downstream_gene_variant BRCA-EU 7 38425852 38425852 deletion of <=200bp T - intron_variant BRCA-EU 7 38425901 38425901 single base substitution G A downstream_gene_variant BRCA-EU 7 38425901 38425901 single base substitution G A intron_variant BRCA-EU 7 38426446 38426446 single base substitution A C downstream_gene_variant BRCA-EU 7 38426446 38426446 single base substitution A C intron_variant BRCA-EU 7 38427819 38427819 single base substitution T G downstream_gene_variant BRCA-EU 7 38427819 38427819 single base substitution T G intron_variant BRCA-EU 7 38428758 38428758 single base substitution C G downstream_gene_variant BRCA-EU 7 38428758 38428758 single base substitution C G intron_variant BRCA-EU 7 38430483 38430483 single base substitution C T downstream_gene_variant BRCA-EU 7 38430483 38430483 single base substitution C T intron_variant BRCA-EU 7 38431331 38431331 single base substitution C T downstream_gene_variant BRCA-EU 7 38431331 38431331 single base substitution C T intron_variant BRCA-EU 7 38431512 38431512 single base substitution G A downstream_gene_variant BRCA-EU 7 38431512 38431512 single base substitution G A exon_variant BRCA-EU 7 38431512 38431512 single base substitution G A missense_variant A454V 1361C>T BRCA-EU 7 38431512 38431512 single base substitution G A missense_variant A530V 1589C>T BRCA-EU 7 38431512 38431512 single base substitution G A missense_variant A572V 1715C>T BRCA-EU 7 38432021 38432021 single base substitution C T downstream_gene_variant BRCA-EU 7 38432021 38432021 single base substitution C T intron_variant BRCA-EU 7 38432489 38432489 single base substitution G T downstream_gene_variant BRCA-EU 7 38432489 38432489 single base substitution G T intron_variant BRCA-EU 7 38432489 38432489 single base substitution G T upstream_gene_variant BRCA-EU 7 38433188 38433188 single base substitution T C downstream_gene_variant BRCA-EU 7 38433188 38433188 single base substitution T C intron_variant BRCA-EU 7 38433188 38433188 single base substitution T C upstream_gene_variant BRCA-EU 7 38433614 38433614 single base substitution T G 3_prime_UTR_variant BRCA-EU 7 38433614 38433614 single base substitution T G downstream_gene_variant BRCA-EU 7 38433614 38433614 single base substitution T G exon_variant BRCA-EU 7 38433614 38433614 single base substitution T G synonymous_variant T415T 1245A>C BRCA-EU 7 38433614 38433614 single base substitution T G synonymous_variant T491T 1473A>C BRCA-EU 7 38433614 38433614 single base substitution T G synonymous_variant T533T 1599A>C BRCA-EU 7 38433614 38433614 single base substitution T G upstream_gene_variant BRCA-EU 7 38434047 38434047 single base substitution T A intron_variant BRCA-EU 7 38434047 38434047 single base substitution T A upstream_gene_variant BRCA-EU 7 38434466 38434466 single base substitution C G intron_variant BRCA-EU 7 38434466 38434466 single base substitution C G upstream_gene_variant BRCA-EU 7 38434997 38434997 single base substitution T A intron_variant BRCA-EU 7 38434997 38434997 single base substitution T A upstream_gene_variant BRCA-EU 7 38435046 38435046 single base substitution T G intron_variant BRCA-EU 7 38435046 38435046 single base substitution T G upstream_gene_variant BRCA-EU 7 38436685 38436685 single base substitution G C intron_variant BRCA-EU 7 38436685 38436685 single base substitution G C upstream_gene_variant BRCA-EU 7 38436872 38436872 single base substitution C G intron_variant BRCA-EU 7 38436872 38436872 single base substitution C G upstream_gene_variant BRCA-EU 7 38437754 38437754 single base substitution C A intron_variant BRCA-EU 7 38439343 38439343 single base substitution A G intron_variant BRCA-EU 7 38439449 38439449 single base substitution C G intron_variant BRCA-EU 7 38439749 38439749 single base substitution C T intron_variant BRCA-EU 7 38440527 38440527 insertion of <=200bp - T intron_variant BRCA-EU 7 38441440 38441440 single base substitution T A intron_variant BRCA-EU 7 38442518 38442518 deletion of <=200bp A - intron_variant BRCA-EU 7 38442618 38442618 insertion of <=200bp - T intron_variant BRCA-EU 7 38443088 38443088 single base substitution G A intron_variant BRCA-EU 7 38443544 38443544 single base substitution G C intron_variant BRCA-EU 7 38444352 38444352 single base substitution C G intron_variant BRCA-EU 7 38444768 38444768 single base substitution A G intron_variant BRCA-EU 7 38444996 38444996 single base substitution T A intron_variant BRCA-EU 7 38445314 38445314 single base substitution T A intron_variant BRCA-EU 7 38445579 38445579 single base substitution A C intron_variant BRCA-EU 7 38447634 38447634 single base substitution T A intron_variant BRCA-EU 7 38447966 38447966 single base substitution C A intron_variant BRCA-EU 7 38448190 38448190 single base substitution T A intron_variant BRCA-EU 7 38449821 38449821 single base substitution G T intron_variant BRCA-EU 7 38449932 38449932 single base substitution C G intron_variant BRCA-EU 7 38450098 38450098 single base substitution C G intron_variant BRCA-EU 7 38450559 38450559 single base substitution G C intron_variant BRCA-EU 7 38451914 38451914 single base substitution C G intron_variant BRCA-EU 7 38452060 38452060 single base substitution G C intron_variant BRCA-EU 7 38452717 38452717 single base substitution A G intron_variant BRCA-EU 7 38453766 38453766 single base substitution G A intron_variant BRCA-EU 7 38454516 38454516 single base substitution G A intron_variant BRCA-EU 7 38454864 38454864 deletion of <=200bp A - intron_variant BRCA-EU 7 38455585 38455585 single base substitution C A intron_variant BRCA-EU 7 38455846 38455846 single base substitution A T intron_variant BRCA-EU 7 38455950 38455950 single base substitution C A intron_variant BRCA-EU 7 38456712 38456712 single base substitution C T intron_variant BRCA-EU 7 38457305 38457305 single base substitution G C intron_variant BRCA-EU 7 38457511 38457511 single base substitution C A exon_variant BRCA-EU 7 38457511 38457511 single base substitution C A intron_variant BRCA-EU 7 38457511 38457511 single base substitution C A stop_gained E438* 1312G>T BRCA-EU 7 38457530 38457530 single base substitution T A exon_variant BRCA-EU 7 38457530 38457530 single base substitution T A intron_variant BRCA-EU 7 38457530 38457530 single base substitution T A synonymous_variant P431P 1293A>T BRCA-EU 7 38457740 38457740 single base substitution T C intron_variant BRCA-EU 7 38457740 38457740 single base substitution T C upstream_gene_variant BRCA-EU 7 38458616 38458616 single base substitution C G intron_variant BRCA-EU 7 38458616 38458616 single base substitution C G upstream_gene_variant BRCA-EU 7 38458824 38458824 single base substitution G A intron_variant BRCA-EU 7 38458824 38458824 single base substitution G A upstream_gene_variant BRCA-EU 7 38459802 38459802 single base substitution T G intron_variant BRCA-EU 7 38459802 38459802 single base substitution T G upstream_gene_variant BRCA-EU 7 38460268 38460268 single base substitution G A intron_variant BRCA-EU 7 38460268 38460268 single base substitution G A upstream_gene_variant BRCA-EU 7 38460296 38460296 single base substitution G A intron_variant BRCA-EU 7 38460296 38460296 single base substitution G A upstream_gene_variant BRCA-EU 7 38461431 38461431 single base substitution A G intron_variant BRCA-EU 7 38461431 38461431 single base substitution A G upstream_gene_variant BRCA-EU 7 38462326 38462326 single base substitution G A intron_variant BRCA-EU 7 38462326 38462326 single base substitution G A upstream_gene_variant BRCA-EU 7 38462612 38462612 single base substitution C G intron_variant BRCA-EU 7 38462612 38462612 single base substitution C G upstream_gene_variant BRCA-EU 7 38466191 38466191 single base substitution G C intron_variant BRCA-EU 7 38467023 38467023 single base substitution G C intron_variant BRCA-EU 7 38467968 38467968 single base substitution C G exon_variant BRCA-EU 7 38467968 38467968 single base substitution C G intron_variant BRCA-EU 7 38468613 38468613 single base substitution C T exon_variant BRCA-EU 7 38468613 38468613 single base substitution C T intron_variant BRCA-EU 7 38469784 38469784 single base substitution G T intron_variant BRCA-EU 7 38469784 38469784 single base substitution G T upstream_gene_variant BRCA-EU 7 38470093 38470093 single base substitution C T intron_variant BRCA-EU 7 38470093 38470093 single base substitution C T upstream_gene_variant BRCA-EU 7 38470178 38470178 single base substitution G A intron_variant BRCA-EU 7 38470178 38470178 single base substitution G A upstream_gene_variant BRCA-EU 7 38470939 38470939 insertion of <=200bp - A intron_variant BRCA-EU 7 38470939 38470939 insertion of <=200bp - A upstream_gene_variant BRCA-EU 7 38471862 38471862 insertion of <=200bp - A intron_variant BRCA-EU 7 38471862 38471862 insertion of <=200bp - A upstream_gene_variant BRCA-EU 7 38471867 38471867 single base substitution A C intron_variant BRCA-EU 7 38471867 38471867 single base substitution A C upstream_gene_variant BRCA-EU 7 38471870 38471870 single base substitution G C intron_variant BRCA-EU 7 38471870 38471870 single base substitution G C upstream_gene_variant BRCA-EU 7 38472319 38472319 single base substitution C T intron_variant BRCA-EU 7 38472319 38472319 single base substitution C T upstream_gene_variant BRCA-EU 7 38472579 38472579 single base substitution C A intron_variant BRCA-EU 7 38472579 38472579 single base substitution C A upstream_gene_variant BRCA-EU 7 38473059 38473059 single base substitution C T intron_variant BRCA-EU 7 38473059 38473059 single base substitution C T upstream_gene_variant BRCA-EU 7 38473785 38473785 single base substitution C T intron_variant BRCA-EU 7 38473785 38473785 single base substitution C T upstream_gene_variant BRCA-EU 7 38474751 38474751 single base substitution G T intron_variant BRCA-EU 7 38475129 38475129 single base substitution T A intron_variant BRCA-EU 7 38475639 38475639 single base substitution A G intron_variant BRCA-EU 7 38477457 38477457 single base substitution A G intron_variant BRCA-EU 7 38479065 38479065 single base substitution A C intron_variant BRCA-EU 7 38479960 38479960 single base substitution G A intron_variant BRCA-EU 7 38482121 38482121 single base substitution G A intron_variant BRCA-EU 7 38482352 38482352 single base substitution G A intron_variant BRCA-EU 7 38482524 38482524 single base substitution G T intron_variant BRCA-EU 7 38483570 38483570 single base substitution C A intron_variant BRCA-EU 7 38483622 38483622 single base substitution A G intron_variant BRCA-EU 7 38483817 38483817 single base substitution G A intron_variant BRCA-EU 7 38484138 38484138 single base substitution G C intron_variant BRCA-EU 7 38484373 38484373 single base substitution C G intron_variant BRCA-EU 7 38484553 38484553 single base substitution G A intron_variant BRCA-EU 7 38484829 38484829 single base substitution T C intron_variant BRCA-EU 7 38485001 38485001 single base substitution G C intron_variant BRCA-EU 7 38485092 38485092 single base substitution G A intron_variant BRCA-EU 7 38485443 38485443 single base substitution C T intron_variant BRCA-EU 7 38486289 38486289 single base substitution C T intron_variant BRCA-EU 7 38488954 38488954 single base substitution T C intron_variant BRCA-EU 7 38489689 38489689 single base substitution C G intron_variant BRCA-EU 7 38490138 38490138 single base substitution C T intron_variant BRCA-EU 7 38490762 38490762 single base substitution A C intron_variant BRCA-EU 7 38491071 38491071 single base substitution G T intron_variant BRCA-EU 7 38491495 38491495 single base substitution T A intron_variant BRCA-EU 7 38491730 38491730 single base substitution G C intron_variant BRCA-EU 7 38492307 38492307 single base substitution G T intron_variant BRCA-EU 7 38492387 38492387 single base substitution T C intron_variant BRCA-EU 7 38493169 38493169 single base substitution C A intron_variant BRCA-EU 7 38494064 38494097 deletion of <=200bp GTAGAAAAAAGAGATAGTTTCAGTGACACTAGAG - intron_variant BRCA-EU 7 38494953 38494953 single base substitution G A intron_variant BRCA-EU 7 38496350 38496350 single base substitution A G intron_variant BRCA-EU 7 38496923 38496923 single base substitution T G intron_variant BRCA-EU 7 38497051 38497051 single base substitution C T intron_variant BRCA-EU 7 38497724 38497724 single base substitution C T intron_variant BRCA-EU 7 38497940 38497940 single base substitution T A intron_variant BRCA-EU 7 38498718 38498718 single base substitution A T intron_variant BRCA-EU 7 38499101 38499101 single base substitution G A intron_variant BRCA-EU 7 38499363 38499363 single base substitution A C intron_variant BRCA-EU 7 38499468 38499468 single base substitution C T intron_variant BRCA-EU 7 38500153 38500153 single base substitution C A intron_variant BRCA-EU 7 38500203 38500203 single base substitution A G intron_variant BRCA-EU 7 38500967 38500967 single base substitution C T synonymous_variant P311P 933G>A BRCA-EU 7 38500967 38500967 single base substitution C T synonymous_variant P61P 183G>A BRCA-EU 7 38501166 38501166 single base substitution G T intron_variant BRCA-EU 7 38501526 38501526 single base substitution A G intron_variant BRCA-EU 7 38501593 38501593 single base substitution G T intron_variant BRCA-EU 7 38502518 38502518 single base substitution G T intron_variant BRCA-EU 7 38502594 38502594 single base substitution C T missense_variant R290Q 869G>A BRCA-EU 7 38502594 38502594 single base substitution C T missense_variant R40Q 119G>A BRCA-EU 7 38502684 38502684 single base substitution G A missense_variant T10I 29C>T BRCA-EU 7 38502684 38502684 single base substitution G A missense_variant T260I 779C>T BRCA-EU 7 38503633 38503633 single base substitution A G intron_variant BRCA-EU 7 38503633 38503633 single base substitution A G upstream_gene_variant BRCA-EU 7 38504258 38504258 deletion of <=200bp T - intron_variant BRCA-EU 7 38504258 38504258 deletion of <=200bp T - upstream_gene_variant BRCA-EU 7 38504373 38504373 single base substitution C T intron_variant BRCA-EU 7 38504373 38504373 single base substitution C T upstream_gene_variant BRCA-EU 7 38504939 38504939 single base substitution C T intron_variant BRCA-EU 7 38504939 38504939 single base substitution C T upstream_gene_variant BRCA-EU 7 38505493 38505493 single base substitution T G intron_variant BRCA-EU 7 38505493 38505493 single base substitution T G upstream_gene_variant BRCA-EU 7 38505630 38505630 single base substitution G A intron_variant BRCA-EU 7 38505630 38505630 single base substitution G A upstream_gene_variant BRCA-EU 7 38506735 38506735 single base substitution C A intron_variant BRCA-EU 7 38506735 38506735 single base substitution C A upstream_gene_variant BRCA-EU 7 38506991 38506991 single base substitution A G intron_variant BRCA-EU 7 38506991 38506991 single base substitution A G upstream_gene_variant BRCA-EU 7 38507495 38507495 single base substitution G A intron_variant BRCA-EU 7 38507495 38507495 single base substitution G A upstream_gene_variant BRCA-EU 7 38507736 38507736 single base substitution G T intron_variant BRCA-EU 7 38507904 38507904 single base substitution G C intron_variant BRCA-EU 7 38508492 38508492 single base substitution C T intron_variant BRCA-EU 7 38509179 38509179 single base substitution C G intron_variant BRCA-EU 7 38509267 38509267 single base substitution C A intron_variant BRCA-EU 7 38509402 38509402 single base substitution C G intron_variant BRCA-EU 7 38511264 38511264 single base substitution A G intron_variant BRCA-EU 7 38512273 38512273 single base substitution G T intron_variant BRCA-EU 7 38512661 38512661 single base substitution C A intron_variant BRCA-EU 7 38512892 38512892 single base substitution C A intron_variant BRCA-EU 7 38513075 38513075 single base substitution C T intron_variant BRCA-EU 7 38516219 38516219 single base substitution C T intron_variant BRCA-EU 7 38516220 38516220 single base substitution G A intron_variant BRCA-EU 7 38516650 38516650 insertion of <=200bp - TC intron_variant BRCA-EU 7 38516718 38516718 single base substitution A G intron_variant BRCA-EU 7 38517096 38517096 single base substitution T C intron_variant BRCA-EU 7 38517415 38517415 single base substitution A G intron_variant BRCA-EU 7 38517713 38517713 single base substitution T C intron_variant BRCA-EU 7 38517808 38517808 single base substitution G T intron_variant BRCA-EU 7 38519558 38519558 single base substitution A T intron_variant BRCA-EU 7 38520104 38520104 single base substitution C G intron_variant BRCA-EU 7 38520147 38520147 single base substitution G C intron_variant BRCA-EU 7 38520643 38520643 single base substitution C T intron_variant BRCA-EU 7 38522291 38522291 single base substitution A G intron_variant BRCA-EU 7 38522642 38522642 single base substitution C A intron_variant BRCA-EU 7 38522861 38522861 single base substitution T G intron_variant BRCA-EU 7 38523395 38523395 single base substitution T C intron_variant BRCA-EU 7 38523976 38523976 single base substitution C T intron_variant BRCA-EU 7 38524334 38524334 single base substitution C A intron_variant BRCA-EU 7 38527116 38527116 single base substitution A G intron_variant BRCA-EU 7 38527197 38527197 single base substitution C T intron_variant BRCA-EU 7 38528803 38528803 single base substitution A G intron_variant BRCA-EU 7 38528895 38528895 insertion of <=200bp - A intron_variant BRCA-EU 7 38528960 38528960 single base substitution C A intron_variant BRCA-EU 7 38529181 38529181 single base substitution T C intron_variant BRCA-EU 7 38529344 38529344 single base substitution C T intron_variant BRCA-EU 7 38529448 38529448 single base substitution A C intron_variant BRCA-EU 7 38529449 38529449 single base substitution C T intron_variant BRCA-EU 7 38530418 38530418 single base substitution G A intron_variant BRCA-EU 7 38530660 38530660 single base substitution G A missense_variant P129L 386C>T BRCA-EU 7 38530670 38530670 single base substitution C A missense_variant G126W 376G>T BRCA-EU 7 38531030 38531030 single base substitution T A intron_variant BRCA-EU 7 38531049 38531049 single base substitution T C intron_variant BRCA-EU 7 38531209 38531209 single base substitution G A intron_variant BRCA-EU 7 38531324 38531324 single base substitution T G intron_variant BRCA-EU 7 38531623 38531623 single base substitution C G intron_variant BRCA-EU 7 38532109 38532109 single base substitution G A intron_variant BRCA-EU 7 38532670 38532670 single base substitution A G intron_variant BRCA-EU 7 38533243 38533243 single base substitution G A intron_variant BRCA-EU 7 38533271 38533271 single base substitution T A intron_variant BRCA-EU 7 38533673 38533673 single base substitution C T intron_variant BRCA-EU 7 38534790 38534790 single base substitution C A intron_variant BRCA-EU 7 38535434 38535434 single base substitution C G intron_variant BRCA-EU 7 38535954 38535954 single base substitution G C intron_variant BRCA-EU 7 38536695 38536695 single base substitution T C intron_variant BRCA-EU 7 38537175 38537175 insertion of <=200bp - T intron_variant BRCA-EU 7 38537447 38537447 single base substitution T G intron_variant BRCA-EU 7 38538037 38538037 single base substitution G T intron_variant BRCA-EU 7 38538272 38538272 single base substitution C G intron_variant BRCA-EU 7 38538514 38538514 single base substitution C T intron_variant BRCA-EU 7 38539580 38539580 single base substitution G T intron_variant BRCA-EU 7 38541299 38541299 single base substitution C G intron_variant BRCA-EU 7 38541602 38541602 single base substitution T C intron_variant BRCA-EU 7 38541966 38541966 single base substitution C T intron_variant BRCA-EU 7 38542210 38542210 single base substitution C A intron_variant BRCA-EU 7 38543565 38543565 single base substitution G T intron_variant BRCA-EU 7 38543904 38543904 deletion of <=200bp T - intron_variant BRCA-EU 7 38546174 38546174 single base substitution A G intron_variant BRCA-EU 7 38547863 38547863 single base substitution T C intron_variant BRCA-EU 7 38548256 38548256 single base substitution T A intron_variant BRCA-EU 7 38548322 38548322 single base substitution C T intron_variant BRCA-EU 7 38548640 38548640 single base substitution T A intron_variant BRCA-EU 7 38549452 38549452 single base substitution G C intron_variant BRCA-EU 7 38549565 38549570 multiple base substitution (>=2bp and <=200bp) AGAGAT AAAGG intron_variant BRCA-EU 7 38549566 38549566 single base substitution G A intron_variant BRCA-EU 7 38550023 38550023 single base substitution A C intron_variant BRCA-EU 7 38550056 38550056 single base substitution G C intron_variant BRCA-EU 7 38550187 38550187 single base substitution A G intron_variant BRCA-EU 7 38551584 38551584 single base substitution C T intron_variant BRCA-EU 7 38552460 38552460 single base substitution G A intron_variant BRCA-EU 7 38553058 38553058 single base substitution C T intron_variant BRCA-EU 7 38553353 38553353 insertion of <=200bp - A intron_variant BRCA-EU 7 38554615 38554615 single base substitution A T intron_variant BRCA-EU 7 38555169 38555169 single base substitution A T intron_variant BRCA-EU 7 38556121 38556121 single base substitution G T intron_variant BRCA-EU 7 38557817 38557817 single base substitution C A intron_variant BRCA-EU 7 38558636 38558636 single base substitution T C intron_variant BRCA-EU 7 38558929 38558929 single base substitution C T intron_variant BRCA-EU 7 38558985 38558985 single base substitution C G intron_variant BRCA-EU 7 38559264 38559264 single base substitution C T intron_variant BRCA-EU 7 38559276 38559276 single base substitution G A intron_variant BRCA-EU 7 38559346 38559346 single base substitution G A intron_variant BRCA-EU 7 38559407 38559407 single base substitution G T intron_variant BRCA-EU 7 38559460 38559460 single base substitution T C intron_variant BRCA-EU 7 38560181 38560181 single base substitution G T intron_variant BRCA-EU 7 38560920 38560920 single base substitution G A intron_variant BRCA-EU 7 38561242 38561242 insertion of <=200bp - T intron_variant BRCA-EU 7 38561389 38561389 single base substitution T C intron_variant BRCA-EU 7 38563146 38563146 single base substitution A C intron_variant BRCA-EU 7 38564734 38564734 single base substitution A G intron_variant BRCA-EU 7 38565270 38565270 single base substitution A T intron_variant BRCA-EU 7 38565680 38565680 single base substitution C T intron_variant BRCA-EU 7 38565933 38565933 single base substitution C T intron_variant BRCA-EU 7 38566339 38566339 single base substitution G A intron_variant BRCA-EU 7 38566589 38566589 single base substitution A T intron_variant BRCA-EU 7 38567052 38567052 single base substitution T A intron_variant BRCA-EU 7 38567281 38567281 single base substitution C A intron_variant BRCA-EU 7 38568336 38568336 deletion of <=200bp T - intron_variant BRCA-EU 7 38568829 38568829 single base substitution C A intron_variant BRCA-EU 7 38569104 38569104 single base substitution C T intron_variant BRCA-EU 7 38569551 38569551 single base substitution T C intron_variant BRCA-EU 7 38569660 38569660 single base substitution C G intron_variant BRCA-EU 7 38569868 38569868 single base substitution A G intron_variant BRCA-EU 7 38570249 38570249 single base substitution C T intron_variant BRCA-EU 7 38570697 38570697 single base substitution C T intron_variant BRCA-EU 7 38570889 38570889 single base substitution C T intron_variant BRCA-EU 7 38570890 38570890 single base substitution G A intron_variant BRCA-EU 7 38570974 38570974 single base substitution G A intron_variant BRCA-EU 7 38570993 38570993 single base substitution A G intron_variant BRCA-EU 7 38571063 38571063 single base substitution C A intron_variant BRCA-EU 7 38572342 38572342 single base substitution A G intron_variant BRCA-EU 7 38572381 38572381 single base substitution T C intron_variant BRCA-EU 7 38572981 38572981 single base substitution A G intron_variant BRCA-EU 7 38573106 38573106 single base substitution C G intron_variant BRCA-EU 7 38573640 38573640 single base substitution C G intron_variant BRCA-EU 7 38573723 38573723 single base substitution T C intron_variant BRCA-EU 7 38573851 38573851 single base substitution G T intron_variant BRCA-EU 7 38574170 38574170 single base substitution G C intron_variant BRCA-EU 7 38574266 38574266 single base substitution G A intron_variant BRCA-EU 7 38575349 38575349 single base substitution C T intron_variant BRCA-EU 7 38575642 38575642 single base substitution T A intron_variant BRCA-EU 7 38577902 38577902 single base substitution G C intron_variant BRCA-EU 7 38578035 38578035 single base substitution G A intron_variant BRCA-EU 7 38579076 38579076 single base substitution G T intron_variant BRCA-EU 7 38579856 38579856 single base substitution G T intron_variant BRCA-EU 7 38580143 38580143 single base substitution G C intron_variant BRCA-EU 7 38580546 38580546 single base substitution A C intron_variant BRCA-EU 7 38581190 38581190 single base substitution C T intron_variant BRCA-EU 7 38581395 38581395 single base substitution A G intron_variant BRCA-EU 7 38581926 38581926 single base substitution A G intron_variant BRCA-EU 7 38582527 38582527 single base substitution C G intron_variant BRCA-EU 7 38582697 38582697 single base substitution A C intron_variant BRCA-EU 7 38583231 38583231 single base substitution C T intron_variant BRCA-EU 7 38583335 38583335 single base substitution C G intron_variant BRCA-EU 7 38583975 38583975 single base substitution C T intron_variant BRCA-EU 7 38584393 38584393 single base substitution G C intron_variant BRCA-EU 7 38584433 38584433 single base substitution G C intron_variant BRCA-EU 7 38584910 38584910 single base substitution T C intron_variant BRCA-EU 7 38584967 38584967 single base substitution C T intron_variant BRCA-EU 7 38585167 38585167 single base substitution T G intron_variant BRCA-EU 7 38585325 38585325 single base substitution G T intron_variant BRCA-EU 7 38585351 38585351 single base substitution C G intron_variant BRCA-EU 7 38586103 38586103 single base substitution A G intron_variant BRCA-EU 7 38587536 38587536 single base substitution C T intron_variant BRCA-EU 7 38587865 38587865 single base substitution G A intron_variant BRCA-EU 7 38588228 38588228 single base substitution A G intron_variant BRCA-EU 7 38588419 38588419 single base substitution C A intron_variant BRCA-EU 7 38588984 38588984 single base substitution C T intron_variant BRCA-EU 7 38589061 38589061 single base substitution T C intron_variant BRCA-EU 7 38589383 38589383 single base substitution C G intron_variant BRCA-EU 7 38589421 38589425 deletion of <=200bp TTACT - intron_variant BRCA-EU 7 38589620 38589625 deletion of <=200bp TGTTGT - intron_variant BRCA-EU 7 38590162 38590162 single base substitution A T intron_variant BRCA-EU 7 38591348 38591348 single base substitution G T intron_variant BRCA-EU 7 38591744 38591744 insertion of <=200bp - T intron_variant BRCA-EU 7 38591844 38591844 single base substitution G C intron_variant BRCA-EU 7 38592201 38592201 single base substitution A G intron_variant BRCA-EU 7 38593438 38593438 single base substitution T G intron_variant BRCA-EU 7 38593953 38593953 single base substitution A C intron_variant BRCA-EU 7 38594090 38594090 deletion of <=200bp A - intron_variant BRCA-EU 7 38594943 38594943 single base substitution T C intron_variant BRCA-EU 7 38595085 38595085 single base substitution C G intron_variant BRCA-EU 7 38595999 38595999 single base substitution A C intron_variant BRCA-EU 7 38596768 38596768 single base substitution G C intron_variant BRCA-EU 7 38596963 38596963 single base substitution G A intron_variant BRCA-EU 7 38597052 38597052 single base substitution A T intron_variant BRCA-EU 7 38598797 38598797 single base substitution C T intron_variant BRCA-EU 7 38598882 38598882 single base substitution C G intron_variant BRCA-EU 7 38599672 38599672 single base substitution C T intron_variant BRCA-EU 7 38600210 38600210 single base substitution T G intron_variant BRCA-EU 7 38601579 38601579 insertion of <=200bp - G intron_variant BRCA-EU 7 38604014 38604014 single base substitution G C intron_variant BRCA-EU 7 38604877 38604877 single base substitution C G intron_variant BRCA-EU 7 38604970 38604970 single base substitution C T intron_variant BRCA-EU 7 38605763 38605763 single base substitution T G intron_variant BRCA-EU 7 38606302 38606302 insertion of <=200bp - A intron_variant BRCA-EU 7 38606481 38606481 single base substitution A G intron_variant BRCA-EU 7 38607825 38607825 single base substitution G A intron_variant BRCA-EU 7 38607835 38607835 single base substitution G A intron_variant BRCA-EU 7 38608066 38608066 deletion of <=200bp A - intron_variant BRCA-EU 7 38608422 38608422 single base substitution G C intron_variant BRCA-EU 7 38609125 38609125 single base substitution G A intron_variant BRCA-EU 7 38609132 38609132 deletion of <=200bp A - intron_variant BRCA-EU 7 38609687 38609687 single base substitution G A intron_variant BRCA-EU 7 38610003 38610003 single base substitution G T intron_variant BRCA-EU 7 38611333 38611333 single base substitution G A intron_variant BRCA-EU 7 38611632 38611632 single base substitution A T intron_variant BRCA-EU 7 38611640 38611640 single base substitution G A intron_variant BRCA-EU 7 38612389 38612389 single base substitution A C intron_variant BRCA-EU 7 38612891 38612891 single base substitution T C intron_variant BRCA-EU 7 38613240 38613240 single base substitution C G intron_variant BRCA-EU 7 38613293 38613293 single base substitution C G intron_variant BRCA-EU 7 38613941 38613941 single base substitution C T intron_variant BRCA-EU 7 38614850 38614850 single base substitution T G intron_variant BRCA-EU 7 38616061 38616061 single base substitution C G intron_variant BRCA-EU 7 38617446 38617446 single base substitution G A intron_variant BRCA-EU 7 38618569 38618569 single base substitution C A intron_variant BRCA-EU 7 38620214 38620214 single base substitution C T intron_variant BRCA-EU 7 38622446 38622446 single base substitution C A intron_variant BRCA-EU 7 38623402 38623402 single base substitution G A intron_variant BRCA-EU 7 38623612 38623612 single base substitution C A intron_variant BRCA-EU 7 38624383 38624383 single base substitution C T intron_variant BRCA-EU 7 38624545 38624545 single base substitution A T intron_variant BRCA-EU 7 38624819 38624819 single base substitution C G intron_variant BRCA-EU 7 38625801 38625801 single base substitution C T intron_variant BRCA-EU 7 38626289 38626289 single base substitution C A intron_variant BRCA-EU 7 38626657 38626657 single base substitution C T intron_variant BRCA-EU 7 38626704 38626704 single base substitution T C intron_variant BRCA-EU 7 38626767 38626767 single base substitution G A intron_variant BRCA-EU 7 38628067 38628067 deletion of <=200bp T - intron_variant BRCA-EU 7 38629985 38629985 single base substitution C T intron_variant BRCA-EU 7 38630002 38630002 single base substitution G A intron_variant BRCA-EU 7 38631179 38631179 single base substitution G A intron_variant BRCA-EU 7 38632591 38632591 single base substitution C T intron_variant BRCA-EU 7 38633266 38633266 single base substitution A G intron_variant BRCA-EU 7 38633788 38633788 single base substitution T C intron_variant BRCA-EU 7 38634790 38634790 single base substitution G C intron_variant BRCA-EU 7 38635321 38635321 single base substitution C T intron_variant BRCA-EU 7 38636169 38636169 single base substitution C T intron_variant BRCA-EU 7 38636805 38636805 single base substitution C A intron_variant BRCA-EU 7 38636911 38636911 single base substitution T A intron_variant BRCA-EU 7 38637854 38637854 deletion of <=200bp G - intron_variant BRCA-EU 7 38639244 38639244 single base substitution G A intron_variant BRCA-EU 7 38640301 38640301 single base substitution G A intron_variant BRCA-EU 7 38644467 38644467 deletion of <=200bp T - intron_variant BRCA-EU 7 38645492 38645492 single base substitution G T intron_variant BRCA-EU 7 38645649 38645649 single base substitution T C intron_variant BRCA-EU 7 38646536 38646536 single base substitution T C intron_variant BRCA-EU 7 38648671 38648671 single base substitution G T intron_variant BRCA-EU 7 38649195 38649195 single base substitution G A intron_variant BRCA-EU 7 38649252 38649252 single base substitution C T intron_variant BRCA-EU 7 38649311 38649311 single base substitution T A intron_variant BRCA-EU 7 38650407 38650407 single base substitution C T intron_variant BRCA-EU 7 38650599 38650599 single base substitution G C intron_variant BRCA-EU 7 38651159 38651159 single base substitution C A intron_variant BRCA-EU 7 38651206 38651206 single base substitution G A intron_variant BRCA-EU 7 38651962 38651962 single base substitution C A intron_variant BRCA-EU 7 38652564 38652564 deletion of <=200bp A - intron_variant BRCA-EU 7 38652606 38652606 single base substitution G A intron_variant BRCA-EU 7 38652650 38652650 deletion of <=200bp A - intron_variant BRCA-EU 7 38652824 38652824 single base substitution T G intron_variant BRCA-EU 7 38652850 38652850 single base substitution A C intron_variant BRCA-EU 7 38652931 38652931 single base substitution G T intron_variant BRCA-EU 7 38653049 38653049 single base substitution G A intron_variant BRCA-EU 7 38654579 38654579 single base substitution G A intron_variant BRCA-EU 7 38654702 38654702 single base substitution A C intron_variant BRCA-EU 7 38654828 38654828 single base substitution G A intron_variant BRCA-EU 7 38655269 38655269 single base substitution G T intron_variant BRCA-EU 7 38656258 38656258 deletion of <=200bp A - intron_variant BRCA-EU 7 38657190 38657190 single base substitution C T intron_variant BRCA-EU 7 38657322 38657322 single base substitution G A intron_variant BRCA-EU 7 38657532 38657532 single base substitution T G intron_variant BRCA-EU 7 38658595 38658595 single base substitution C A intron_variant BRCA-EU 7 38658796 38658796 deletion of <=200bp A - intron_variant BRCA-EU 7 38660360 38660360 single base substitution G C intron_variant BRCA-EU 7 38662276 38662276 single base substitution G T intron_variant BRCA-EU 7 38662837 38662837 single base substitution T C intron_variant BRCA-EU 7 38664767 38664767 single base substitution A G intron_variant BRCA-EU 7 38665296 38665296 single base substitution A T intron_variant BRCA-EU 7 38666074 38666074 single base substitution G A intron_variant BRCA-EU 7 38666498 38666498 single base substitution A G intron_variant BRCA-EU 7 38667884 38667884 single base substitution G T intron_variant BRCA-EU 7 38668218 38668218 single base substitution A G intron_variant BRCA-EU 7 38668356 38668356 single base substitution G C intron_variant BRCA-EU 7 38670187 38670187 single base substitution C G intron_variant BRCA-EU 7 38670594 38670594 single base substitution G A intron_variant BRCA-EU 7 38670901 38670901 single base substitution G C synonymous_variant L17L 51C>G BRCA-EU 7 38672195 38672195 single base substitution A G upstream_gene_variant BRCA-EU 7 38672324 38672324 single base substitution C A upstream_gene_variant BRCA-EU 7 38672335 38672335 single base substitution C T upstream_gene_variant BRCA-EU 7 38672841 38672841 single base substitution G T upstream_gene_variant BRCA-EU 7 38672878 38672878 single base substitution A G upstream_gene_variant BRCA-EU 7 38672891 38672891 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 38673377 38673377 single base substitution C T upstream_gene_variant BRCA-EU 7 38673508 38673508 single base substitution G C upstream_gene_variant BRCA-EU 7 38674655 38674655 single base substitution G A upstream_gene_variant BRCA-EU 7 38674820 38674820 deletion of <=200bp G - upstream_gene_variant BRCA-EU 7 38675202 38675202 single base substitution T C upstream_gene_variant BRCA-FR 7 38424576 38424576 single base substitution C G downstream_gene_variant BRCA-FR 7 38424576 38424576 single base substitution C G intron_variant BRCA-FR 7 38424908 38424908 single base substitution C G downstream_gene_variant BRCA-FR 7 38424908 38424908 single base substitution C G intron_variant BRCA-FR 7 38430483 38430483 single base substitution C T downstream_gene_variant BRCA-FR 7 38430483 38430483 single base substitution C T intron_variant BRCA-FR 7 38439749 38439749 single base substitution C T intron_variant BRCA-FR 7 38444249 38444249 single base substitution A G intron_variant BRCA-FR 7 38445314 38445314 single base substitution T A intron_variant BRCA-FR 7 38447634 38447634 single base substitution T A intron_variant BRCA-FR 7 38451914 38451914 single base substitution C G intron_variant BRCA-FR 7 38459802 38459802 single base substitution T G intron_variant BRCA-FR 7 38459802 38459802 single base substitution T G upstream_gene_variant BRCA-FR 7 38460296 38460296 single base substitution G A intron_variant BRCA-FR 7 38460296 38460296 single base substitution G A upstream_gene_variant BRCA-FR 7 38462328 38462328 single base substitution T A intron_variant BRCA-FR 7 38462328 38462328 single base substitution T A upstream_gene_variant BRCA-FR 7 38462612 38462612 single base substitution C G intron_variant BRCA-FR 7 38462612 38462612 single base substitution C G upstream_gene_variant BRCA-FR 7 38468613 38468613 single base substitution C T exon_variant BRCA-FR 7 38468613 38468613 single base substitution C T intron_variant BRCA-FR 7 38469784 38469784 single base substitution G T intron_variant BRCA-FR 7 38469784 38469784 single base substitution G T upstream_gene_variant BRCA-FR 7 38481249 38481249 single base substitution G A intron_variant BRCA-FR 7 38488765 38488765 single base substitution G A intron_variant BRCA-FR 7 38490762 38490762 single base substitution A C intron_variant BRCA-FR 7 38492555 38492555 single base substitution A C intron_variant BRCA-FR 7 38502594 38502594 single base substitution C T missense_variant R290Q 869G>A BRCA-FR 7 38502594 38502594 single base substitution C T missense_variant R40Q 119G>A BRCA-FR 7 38504373 38504373 single base substitution C T intron_variant BRCA-FR 7 38504373 38504373 single base substitution C T upstream_gene_variant BRCA-FR 7 38505630 38505630 single base substitution G A intron_variant BRCA-FR 7 38505630 38505630 single base substitution G A upstream_gene_variant BRCA-FR 7 38519558 38519558 single base substitution A T intron_variant BRCA-FR 7 38522291 38522291 single base substitution A G intron_variant BRCA-FR 7 38530418 38530418 single base substitution G A intron_variant BRCA-FR 7 38531324 38531324 single base substitution T G intron_variant BRCA-FR 7 38531709 38531709 single base substitution C T intron_variant BRCA-FR 7 38533673 38533673 single base substitution C T intron_variant BRCA-FR 7 38536695 38536695 single base substitution T C intron_variant BRCA-FR 7 38558985 38558985 single base substitution C G intron_variant BRCA-FR 7 38559346 38559346 single base substitution G A intron_variant BRCA-FR 7 38560920 38560920 single base substitution G A intron_variant BRCA-FR 7 38561823 38561823 single base substitution G A intron_variant BRCA-FR 7 38565680 38565680 single base substitution C T intron_variant BRCA-FR 7 38566095 38566095 single base substitution C G intron_variant BRCA-FR 7 38567052 38567052 single base substitution T A intron_variant BRCA-FR 7 38573106 38573106 single base substitution C G intron_variant BRCA-FR 7 38573640 38573640 single base substitution C G intron_variant BRCA-FR 7 38581190 38581190 single base substitution C T intron_variant BRCA-FR 7 38583231 38583231 single base substitution C T intron_variant BRCA-FR 7 38585351 38585351 single base substitution C G intron_variant BRCA-FR 7 38588419 38588419 single base substitution C A intron_variant BRCA-FR 7 38588984 38588984 single base substitution C T intron_variant BRCA-FR 7 38593923 38593923 single base substitution G A intron_variant BRCA-FR 7 38598882 38598882 single base substitution C G intron_variant BRCA-FR 7 38600554 38600554 single base substitution A C intron_variant BRCA-FR 7 38607825 38607825 single base substitution G A intron_variant BRCA-FR 7 38610003 38610003 single base substitution G T intron_variant BRCA-FR 7 38610359 38610359 single base substitution C G intron_variant BRCA-FR 7 38611333 38611333 single base substitution G A intron_variant BRCA-FR 7 38612891 38612891 single base substitution T C intron_variant BRCA-FR 7 38613941 38613941 single base substitution C T intron_variant BRCA-FR 7 38619948 38619948 single base substitution T A intron_variant BRCA-FR 7 38624383 38624383 single base substitution C T intron_variant BRCA-FR 7 38629143 38629143 single base substitution C A intron_variant BRCA-FR 7 38636351 38636351 single base substitution T C intron_variant BRCA-FR 7 38645492 38645492 single base substitution G T intron_variant BRCA-FR 7 38650086 38650086 single base substitution C T intron_variant BRCA-FR 7 38650407 38650407 single base substitution C T intron_variant BRCA-FR 7 38650534 38650534 single base substitution T G intron_variant BRCA-FR 7 38650599 38650599 single base substitution G C intron_variant BRCA-FR 7 38651206 38651206 single base substitution G A intron_variant BRCA-FR 7 38652850 38652850 single base substitution A C intron_variant BRCA-FR 7 38654828 38654828 single base substitution G A intron_variant BRCA-FR 7 38665130 38665130 single base substitution A G intron_variant BRCA-FR 7 38666227 38666227 single base substitution A T intron_variant BRCA-FR 7 38667624 38667624 single base substitution G A intron_variant BRCA-FR 7 38670187 38670187 single base substitution C G intron_variant BRCA-KR 7 38469084 38469084 single base substitution C G intron_variant BRCA-KR 7 38469084 38469084 single base substitution C G missense_variant D176H 526G>C BRCA-KR 7 38469084 38469084 single base substitution C G upstream_gene_variant BRCA-KR 7 38469553 38469553 single base substitution C T exon_variant BRCA-KR 7 38469553 38469553 single base substitution C T intron_variant BRCA-KR 7 38469553 38469553 single base substitution C T upstream_gene_variant BRCA-UK 7 38419519 38419519 single base substitution A T downstream_gene_variant BRCA-UK 7 38421220 38421220 single base substitution G A downstream_gene_variant BRCA-UK 7 38436872 38436872 single base substitution C G intron_variant BRCA-UK 7 38436872 38436872 single base substitution C G upstream_gene_variant BRCA-UK 7 38454356 38454356 single base substitution C T intron_variant BRCA-UK 7 38475129 38475129 single base substitution T A intron_variant BRCA-UK 7 38499648 38499648 single base substitution C T intron_variant BRCA-UK 7 38504895 38504895 single base substitution G A intron_variant BRCA-UK 7 38504895 38504895 single base substitution G A upstream_gene_variant BRCA-UK 7 38542210 38542210 single base substitution C A intron_variant BRCA-UK 7 38552158 38552158 single base substitution T A intron_variant BRCA-UK 7 38553058 38553058 single base substitution C T intron_variant BRCA-UK 7 38560511 38560511 single base substitution G C intron_variant BRCA-UK 7 38589674 38589674 single base substitution C T intron_variant BRCA-UK 7 38609687 38609687 single base substitution G A intron_variant BRCA-UK 7 38618439 38618439 single base substitution G T intron_variant BRCA-UK 7 38636169 38636169 single base substitution C T intron_variant BRCA-UK 7 38636770 38636770 single base substitution G A intron_variant BRCA-UK 7 38652931 38652931 single base substitution G T intron_variant BRCA-UK 7 38654579 38654579 single base substitution G A intron_variant BRCA-UK 7 38671364 38671364 single base substitution G C upstream_gene_variant BRCA-UK 7 38672195 38672195 single base substitution A G upstream_gene_variant BRCA-US 7 38424484 38424484 single base substitution G A downstream_gene_variant BRCA-US 7 38424484 38424484 single base substitution G A stop_gained Q557* 1669C>T BRCA-US 7 38424484 38424484 single base substitution G A stop_gained Q633* 1897C>T BRCA-US 7 38424484 38424484 single base substitution G A stop_gained Q675* 2023C>T BRCA-US 7 38424487 38424487 single base substitution G A downstream_gene_variant BRCA-US 7 38424487 38424487 single base substitution G A missense_variant L556F 1666C>T BRCA-US 7 38424487 38424487 single base substitution G A missense_variant L632F 1894C>T BRCA-US 7 38424487 38424487 single base substitution G A missense_variant L674F 2020C>T BRCA-US 7 38429447 38429447 single base substitution A C downstream_gene_variant BRCA-US 7 38429447 38429447 single base substitution A C synonymous_variant G528G 1584T>G BRCA-US 7 38429447 38429447 single base substitution A C synonymous_variant G604G 1812T>G BRCA-US 7 38429447 38429447 single base substitution A C synonymous_variant G646G 1938T>G BRCA-US 7 38431426 38431426 single base substitution G T downstream_gene_variant BRCA-US 7 38431426 38431426 single base substitution G T exon_variant BRCA-US 7 38431426 38431426 single base substitution G T missense_variant P483T 1447C>A BRCA-US 7 38431426 38431426 single base substitution G T missense_variant P559T 1675C>A BRCA-US 7 38431426 38431426 single base substitution G T missense_variant P601T 1801C>A BRCA-US 7 38431512 38431512 single base substitution G A downstream_gene_variant BRCA-US 7 38431512 38431512 single base substitution G A exon_variant BRCA-US 7 38431512 38431512 single base substitution G A missense_variant A454V 1361C>T BRCA-US 7 38431512 38431512 single base substitution G A missense_variant A530V 1589C>T BRCA-US 7 38431512 38431512 single base substitution G A missense_variant A572V 1715C>T BRCA-US 7 38431520 38431520 single base substitution G A downstream_gene_variant BRCA-US 7 38431520 38431520 single base substitution G A exon_variant BRCA-US 7 38431520 38431520 single base substitution G A synonymous_variant T451T 1353C>T BRCA-US 7 38431520 38431520 single base substitution G A synonymous_variant T527T 1581C>T BRCA-US 7 38431520 38431520 single base substitution G A synonymous_variant T569T 1707C>T BRCA-US 7 38467842 38467842 single base substitution A G exon_variant BRCA-US 7 38467842 38467842 single base substitution A G intron_variant BRCA-US 7 38468463 38468463 single base substitution C T exon_variant BRCA-US 7 38468463 38468463 single base substitution C T intron_variant BRCA-US 7 38471799 38471799 single base substitution T A missense_variant D133V 398A>T BRCA-US 7 38471799 38471799 single base substitution T A missense_variant D383V 1148A>T BRCA-US 7 38471799 38471799 single base substitution T A upstream_gene_variant BRCA-US 7 38475929 38475929 single base substitution G C missense_variant F109L 327C>G BRCA-US 7 38475929 38475929 single base substitution G C missense_variant F359L 1077C>G BRCA-US 7 38502653 38502653 single base substitution G T synonymous_variant L20L 60C>A BRCA-US 7 38502653 38502653 single base substitution G T synonymous_variant L270L 810C>A BTCA-JP 7 38424590 38424590 single base substitution T A downstream_gene_variant BTCA-JP 7 38424590 38424590 single base substitution T A intron_variant BTCA-JP 7 38433632 38433632 single base substitution T A 3_prime_UTR_variant BTCA-JP 7 38433632 38433632 single base substitution T A downstream_gene_variant BTCA-JP 7 38433632 38433632 single base substitution T A exon_variant BTCA-JP 7 38433632 38433632 single base substitution T A synonymous_variant A409A 1227A>T BTCA-JP 7 38433632 38433632 single base substitution T A synonymous_variant A485A 1455A>T BTCA-JP 7 38433632 38433632 single base substitution T A synonymous_variant A527A 1581A>T BTCA-JP 7 38433632 38433632 single base substitution T A upstream_gene_variant BTCA-JP 7 38433678 38433678 single base substitution A G 3_prime_UTR_variant BTCA-JP 7 38433678 38433678 single base substitution A G exon_variant BTCA-JP 7 38433678 38433678 single base substitution A G missense_variant I394T 1181T>C BTCA-JP 7 38433678 38433678 single base substitution A G missense_variant I470T 1409T>C BTCA-JP 7 38433678 38433678 single base substitution A G missense_variant I512T 1535T>C BTCA-JP 7 38433678 38433678 single base substitution A G upstream_gene_variant BTCA-JP 7 38433703 38433703 single base substitution C T 3_prime_UTR_variant BTCA-JP 7 38433703 38433703 single base substitution C T exon_variant BTCA-JP 7 38433703 38433703 single base substitution C T missense_variant G386R 1156G>A BTCA-JP 7 38433703 38433703 single base substitution C T missense_variant G462R 1384G>A BTCA-JP 7 38433703 38433703 single base substitution C T missense_variant G504R 1510G>A BTCA-JP 7 38433703 38433703 single base substitution C T upstream_gene_variant BTCA-JP 7 38457583 38457583 single base substitution A T exon_variant BTCA-JP 7 38457583 38457583 single base substitution A T intron_variant BTCA-JP 7 38457584 38457584 single base substitution A T exon_variant BTCA-JP 7 38457584 38457584 single base substitution A T intron_variant BTCA-JP 7 38460633 38460633 single base substitution G T intron_variant BTCA-JP 7 38460633 38460633 single base substitution G T upstream_gene_variant BTCA-JP 7 38466498 38466498 deletion of <=200bp A - intron_variant BTCA-JP 7 38467660 38467660 single base substitution G A exon_variant BTCA-JP 7 38467660 38467660 single base substitution G A intron_variant BTCA-JP 7 38468985 38468985 single base substitution C T intron_variant BTCA-JP 7 38468985 38468985 single base substitution C T missense_variant E209K 625G>A BTCA-JP 7 38468985 38468985 single base substitution C T upstream_gene_variant BTCA-JP 7 38469506 38469506 deletion of <=200bp A - exon_variant BTCA-JP 7 38469506 38469506 deletion of <=200bp A - intron_variant BTCA-JP 7 38469506 38469506 deletion of <=200bp A - upstream_gene_variant BTCA-JP 7 38471486 38471486 single base substitution C G intron_variant BTCA-JP 7 38471486 38471486 single base substitution C G upstream_gene_variant BTCA-JP 7 38471620 38471620 single base substitution G A intron_variant BTCA-JP 7 38471620 38471620 single base substitution G A upstream_gene_variant BTCA-JP 7 38471763 38471763 insertion of <=200bp - A intron_variant BTCA-JP 7 38471763 38471763 insertion of <=200bp - A upstream_gene_variant BTCA-JP 7 38515057 38515057 single base substitution C T intron_variant BTCA-JP 7 38534059 38534059 single base substitution G A missense_variant R92W 274C>T BTCA-JP 7 38534129 38534129 single base substitution T C splice_acceptor_variant CESC-US 7 38431444 38431444 single base substitution G A downstream_gene_variant CESC-US 7 38431444 38431444 single base substitution G A exon_variant CESC-US 7 38431444 38431444 single base substitution G A stop_gained Q477* 1429C>T CESC-US 7 38431444 38431444 single base substitution G A stop_gained Q553* 1657C>T CESC-US 7 38431444 38431444 single base substitution G A stop_gained Q595* 1783C>T CESC-US 7 38432237 38432237 single base substitution G A downstream_gene_variant CESC-US 7 38432237 38432237 single base substitution G A exon_variant CESC-US 7 38432237 38432237 single base substitution G A intron_variant CESC-US 7 38468041 38468041 single base substitution A G exon_variant CESC-US 7 38468041 38468041 single base substitution A G intron_variant CESC-US 7 38500909 38500909 single base substitution C G missense_variant E331Q 991G>C CESC-US 7 38500909 38500909 single base substitution C G missense_variant E81Q 241G>C CLLE-ES 7 38450754 38450754 single base substitution C T intron_variant CLLE-ES 7 38471287 38471287 single base substitution A G intron_variant CLLE-ES 7 38471287 38471287 single base substitution A G upstream_gene_variant CLLE-ES 7 38497881 38497881 single base substitution C A intron_variant CLLE-ES 7 38499197 38499197 single base substitution A G intron_variant CLLE-ES 7 38512271 38512271 single base substitution T A intron_variant CLLE-ES 7 38517598 38517598 single base substitution G A intron_variant CLLE-ES 7 38518183 38518183 single base substitution A C intron_variant CLLE-ES 7 38528918 38528918 single base substitution C T intron_variant CLLE-ES 7 38529219 38529219 single base substitution A C intron_variant CLLE-ES 7 38534936 38534936 single base substitution T A intron_variant CLLE-ES 7 38535061 38535061 single base substitution C T intron_variant CLLE-ES 7 38535984 38535984 single base substitution C A intron_variant CLLE-ES 7 38539638 38539638 single base substitution G A intron_variant CLLE-ES 7 38552229 38552229 single base substitution G T intron_variant CLLE-ES 7 38569995 38569995 single base substitution G A intron_variant CLLE-ES 7 38575454 38575454 single base substitution T C intron_variant CLLE-ES 7 38576750 38576750 single base substitution G A intron_variant CLLE-ES 7 38583805 38583805 single base substitution A T intron_variant CLLE-ES 7 38584532 38584532 single base substitution G A intron_variant CLLE-ES 7 38589015 38589015 single base substitution A G intron_variant CLLE-ES 7 38595503 38595503 single base substitution C T intron_variant CLLE-ES 7 38620884 38620884 single base substitution G A intron_variant CLLE-ES 7 38633770 38633770 single base substitution C A intron_variant CLLE-ES 7 38638723 38638723 single base substitution C A intron_variant CLLE-ES 7 38639027 38639027 single base substitution C T intron_variant CLLE-ES 7 38649003 38649003 single base substitution T G intron_variant CLLE-ES 7 38650842 38650842 single base substitution G T intron_variant CLLE-ES 7 38659041 38659041 single base substitution A G intron_variant CLLE-ES 7 38660602 38660602 single base substitution A T intron_variant CLLE-ES 7 38663744 38663744 single base substitution C T intron_variant CLLE-ES 7 38674819 38674819 single base substitution A G upstream_gene_variant COAD-US 7 38431514 38431514 single base substitution G A downstream_gene_variant COAD-US 7 38431514 38431514 single base substitution G A exon_variant COAD-US 7 38431514 38431514 single base substitution G A synonymous_variant D453D 1359C>T COAD-US 7 38431514 38431514 single base substitution G A synonymous_variant D529D 1587C>T COAD-US 7 38431514 38431514 single base substitution G A synonymous_variant D571D 1713C>T COAD-US 7 38433623 38433623 single base substitution G A 3_prime_UTR_variant COAD-US 7 38433623 38433623 single base substitution G A downstream_gene_variant COAD-US 7 38433623 38433623 single base substitution G A exon_variant COAD-US 7 38433623 38433623 single base substitution G A synonymous_variant L412L 1236C>T COAD-US 7 38433623 38433623 single base substitution G A synonymous_variant L488L 1464C>T COAD-US 7 38433623 38433623 single base substitution G A synonymous_variant L530L 1590C>T COAD-US 7 38433623 38433623 single base substitution G A upstream_gene_variant COAD-US 7 38433754 38433754 deletion of <=200bp C - 3_prime_UTR_variant COAD-US 7 38433754 38433754 deletion of <=200bp C - exon_variant COAD-US 7 38433754 38433754 deletion of <=200bp C - frameshift_variant A369 COAD-US 7 38433754 38433754 deletion of <=200bp C - frameshift_variant A445 COAD-US 7 38433754 38433754 deletion of <=200bp C - frameshift_variant A487 COAD-US 7 38433754 38433754 deletion of <=200bp C - upstream_gene_variant COAD-US 7 38433801 38433801 single base substitution G A 3_prime_UTR_variant COAD-US 7 38433801 38433801 single base substitution G A exon_variant COAD-US 7 38433801 38433801 single base substitution G A missense_variant A353V 1058C>T COAD-US 7 38433801 38433801 single base substitution G A missense_variant A429V 1286C>T COAD-US 7 38433801 38433801 single base substitution G A missense_variant A471V 1412C>T COAD-US 7 38433801 38433801 single base substitution G A upstream_gene_variant COAD-US 7 38457447 38457447 single base substitution T C exon_variant COAD-US 7 38457447 38457447 single base substitution T C intron_variant COAD-US 7 38457447 38457447 single base substitution T C missense_variant E459G 1376A>G COAD-US 7 38462076 38462076 single base substitution G T missense_variant P330H 989C>A COAD-US 7 38462076 38462076 single base substitution G T missense_variant P406H 1217C>A COAD-US 7 38462076 38462076 single base substitution G T splice_region_variant COAD-US 7 38462076 38462076 single base substitution G T upstream_gene_variant COAD-US 7 38502595 38502595 single base substitution G A missense_variant R290W 868C>T COAD-US 7 38502595 38502595 single base substitution G A missense_variant R40W 118C>T COAD-US 7 38502644 38502644 single base substitution C T synonymous_variant P23P 69G>A COAD-US 7 38502644 38502644 single base substitution C T synonymous_variant P273P 819G>A COAD-US 7 38502675 38502675 single base substitution G A missense_variant P13L 38C>T COAD-US 7 38502675 38502675 single base substitution G A missense_variant P263L 788C>T COAD-US 7 38505084 38505084 single base substitution G A synonymous_variant T244T 732C>T COAD-US 7 38505084 38505084 single base substitution G A upstream_gene_variant COAD-US 7 38516524 38516524 single base substitution C A missense_variant A148S 442G>T COAD-US 7 38534070 38534070 single base substitution T G missense_variant D88A 263A>C COAD-US 7 38543283 38543283 single base substitution G A stop_gained R58* 172C>T COAD-US 7 38574539 38574539 single base substitution G A missense_variant R48W 142C>T COAD-US 7 38574553 38574553 single base substitution A G missense_variant V43A 128T>C COAD-US 7 38574603 38574603 single base substitution T C synonymous_variant Q26Q 78A>G COCA-CN 7 38427373 38427373 single base substitution G A downstream_gene_variant COCA-CN 7 38427373 38427373 single base substitution G A intron_variant COCA-CN 7 38427648 38427648 single base substitution C T downstream_gene_variant COCA-CN 7 38427648 38427648 single base substitution C T intron_variant COCA-CN 7 38429361 38429361 single base substitution A C downstream_gene_variant COCA-CN 7 38429361 38429361 single base substitution A C intron_variant COCA-CN 7 38429422 38429422 single base substitution C A downstream_gene_variant COCA-CN 7 38429422 38429422 single base substitution C A missense_variant D537Y 1609G>T COCA-CN 7 38429422 38429422 single base substitution C A missense_variant D613Y 1837G>T COCA-CN 7 38429422 38429422 single base substitution C A missense_variant D655Y 1963G>T COCA-CN 7 38432723 38432723 single base substitution A G downstream_gene_variant COCA-CN 7 38432723 38432723 single base substitution A G intron_variant COCA-CN 7 38432723 38432723 single base substitution A G upstream_gene_variant COCA-CN 7 38433553 38433553 single base substitution C A downstream_gene_variant COCA-CN 7 38433553 38433553 single base substitution C A intron_variant COCA-CN 7 38433553 38433553 single base substitution C A upstream_gene_variant COCA-CN 7 38438586 38438586 single base substitution T C intron_variant COCA-CN 7 38438587 38438587 single base substitution G C intron_variant COCA-CN 7 38438594 38438594 single base substitution T C intron_variant COCA-CN 7 38447268 38447268 single base substitution A T intron_variant COCA-CN 7 38452812 38452812 single base substitution A C intron_variant COCA-CN 7 38460828 38460828 single base substitution C A intron_variant COCA-CN 7 38460828 38460828 single base substitution C A upstream_gene_variant COCA-CN 7 38461925 38461925 single base substitution T C intron_variant COCA-CN 7 38461925 38461925 single base substitution T C upstream_gene_variant COCA-CN 7 38462062 38462062 single base substitution A T exon_variant COCA-CN 7 38462062 38462062 single base substitution A T missense_variant L335I 1003T>A COCA-CN 7 38462062 38462062 single base substitution A T missense_variant L411I 1231T>A COCA-CN 7 38462062 38462062 single base substitution A T upstream_gene_variant COCA-CN 7 38462063 38462063 single base substitution T C exon_variant COCA-CN 7 38462063 38462063 single base substitution T C synonymous_variant S334S 1002A>G COCA-CN 7 38462063 38462063 single base substitution T C synonymous_variant S410S 1230A>G COCA-CN 7 38462063 38462063 single base substitution T C upstream_gene_variant COCA-CN 7 38462187 38462187 single base substitution T C intron_variant COCA-CN 7 38462187 38462187 single base substitution T C upstream_gene_variant COCA-CN 7 38464927 38464927 single base substitution A T intron_variant COCA-CN 7 38466462 38466462 single base substitution C T intron_variant COCA-CN 7 38466516 38466516 single base substitution C T intron_variant COCA-CN 7 38467754 38467754 single base substitution G T exon_variant COCA-CN 7 38467754 38467754 single base substitution G T intron_variant COCA-CN 7 38468131 38468131 single base substitution T G exon_variant COCA-CN 7 38468131 38468131 single base substitution T G intron_variant COCA-CN 7 38469443 38469443 single base substitution G A intron_variant COCA-CN 7 38469443 38469443 single base substitution G A missense_variant P144L 431C>T COCA-CN 7 38469443 38469443 single base substitution G A missense_variant P394L 1181C>T COCA-CN 7 38469443 38469443 single base substitution G A splice_region_variant COCA-CN 7 38469443 38469443 single base substitution G A upstream_gene_variant COCA-CN 7 38473153 38473153 single base substitution G A intron_variant COCA-CN 7 38473153 38473153 single base substitution G A upstream_gene_variant COCA-CN 7 38475776 38475776 single base substitution G T intron_variant COCA-CN 7 38477234 38477234 single base substitution A G intron_variant COCA-CN 7 38477239 38477239 single base substitution A G intron_variant COCA-CN 7 38483366 38483366 single base substitution G T intron_variant COCA-CN 7 38491579 38491579 single base substitution T G intron_variant COCA-CN 7 38502707 38502707 single base substitution C T synonymous_variant S252S 756G>A COCA-CN 7 38502707 38502707 single base substitution C T synonymous_variant S2S 6G>A COCA-CN 7 38505014 38505014 single base substitution A C intron_variant COCA-CN 7 38505014 38505014 single base substitution A C upstream_gene_variant COCA-CN 7 38505025 38505025 single base substitution G A intron_variant COCA-CN 7 38505025 38505025 single base substitution G A upstream_gene_variant COCA-CN 7 38505342 38505342 single base substitution C T intron_variant COCA-CN 7 38505342 38505342 single base substitution C T upstream_gene_variant COCA-CN 7 38508623 38508623 single base substitution G A intron_variant COCA-CN 7 38512407 38512407 single base substitution C T intron_variant COCA-CN 7 38513394 38513394 single base substitution A T intron_variant COCA-CN 7 38514982 38514982 single base substitution A G missense_variant F180S 539T>C COCA-CN 7 38515057 38515057 single base substitution C A intron_variant COCA-CN 7 38515131 38515131 single base substitution G A intron_variant COCA-CN 7 38519245 38519245 single base substitution T C intron_variant COCA-CN 7 38527472 38527472 single base substitution C A intron_variant COCA-CN 7 38530762 38530762 single base substitution G T intron_variant COCA-CN 7 38532031 38532031 single base substitution G A intron_variant COCA-CN 7 38534161 38534161 single base substitution G T intron_variant COCA-CN 7 38540061 38540061 single base substitution C T intron_variant COCA-CN 7 38543406 38543406 single base substitution C A intron_variant COCA-CN 7 38548477 38548477 single base substitution G T intron_variant COCA-CN 7 38551303 38551303 single base substitution C T intron_variant COCA-CN 7 38558543 38558543 single base substitution T C intron_variant COCA-CN 7 38560729 38560729 single base substitution C T intron_variant COCA-CN 7 38566231 38566231 single base substitution C T intron_variant COCA-CN 7 38572354 38572354 single base substitution C A intron_variant COCA-CN 7 38576234 38576234 single base substitution A G intron_variant COCA-CN 7 38576666 38576666 single base substitution C G intron_variant COCA-CN 7 38590126 38590126 single base substitution C T intron_variant COCA-CN 7 38596820 38596820 single base substitution C T intron_variant COCA-CN 7 38602198 38602198 single base substitution G C intron_variant COCA-CN 7 38604561 38604561 single base substitution A G intron_variant COCA-CN 7 38608098 38608098 single base substitution A G intron_variant COCA-CN 7 38612975 38612975 single base substitution G A intron_variant COCA-CN 7 38612976 38612976 single base substitution T C intron_variant COCA-CN 7 38615702 38615702 single base substitution C T intron_variant COCA-CN 7 38622017 38622017 single base substitution G T intron_variant COCA-CN 7 38631152 38631152 single base substitution G T intron_variant COCA-CN 7 38635798 38635798 single base substitution G T intron_variant COCA-CN 7 38636282 38636282 single base substitution C T intron_variant COCA-CN 7 38641823 38641823 single base substitution C G intron_variant COCA-CN 7 38648188 38648188 single base substitution T A intron_variant COCA-CN 7 38651928 38651928 single base substitution G A intron_variant COCA-CN 7 38664534 38664534 single base substitution G A intron_variant COCA-CN 7 38664535 38664535 single base substitution G T intron_variant COCA-CN 7 38670895 38670895 single base substitution G A synonymous_variant R19R 57C>T COCA-CN 7 38670961 38670961 single base substitution T C 5_prime_UTR_variant EOPC-DE 7 38458129 38458129 single base substitution C T intron_variant EOPC-DE 7 38458129 38458129 single base substitution C T upstream_gene_variant EOPC-DE 7 38464293 38464293 single base substitution C A intron_variant EOPC-DE 7 38534840 38534840 single base substitution G A intron_variant EOPC-DE 7 38575110 38575110 single base substitution C T intron_variant EOPC-DE 7 38578677 38578677 single base substitution C T intron_variant EOPC-DE 7 38590125 38590125 single base substitution G A intron_variant EOPC-DE 7 38602009 38602009 single base substitution C T intron_variant EOPC-DE 7 38613769 38613769 single base substitution C T intron_variant EOPC-DE 7 38616125 38616125 single base substitution C T intron_variant EOPC-DE 7 38644131 38644131 single base substitution C T intron_variant ESAD-UK 7 38418338 38418338 single base substitution T C downstream_gene_variant ESAD-UK 7 38418345 38418345 single base substitution A G downstream_gene_variant ESAD-UK 7 38418453 38418453 single base substitution T G downstream_gene_variant ESAD-UK 7 38418533 38418533 single base substitution T A downstream_gene_variant ESAD-UK 7 38418801 38418801 single base substitution G A downstream_gene_variant ESAD-UK 7 38418967 38418967 single base substitution T G downstream_gene_variant ESAD-UK 7 38419053 38419053 single base substitution G A downstream_gene_variant ESAD-UK 7 38419366 38419366 single base substitution C T downstream_gene_variant ESAD-UK 7 38419462 38419462 single base substitution T G downstream_gene_variant ESAD-UK 7 38419852 38419852 single base substitution G T downstream_gene_variant ESAD-UK 7 38420249 38420249 single base substitution C T downstream_gene_variant ESAD-UK 7 38420446 38420446 single base substitution G T downstream_gene_variant ESAD-UK 7 38420514 38420514 single base substitution G T downstream_gene_variant ESAD-UK 7 38420651 38420651 single base substitution T G downstream_gene_variant ESAD-UK 7 38420853 38420853 single base substitution G T downstream_gene_variant ESAD-UK 7 38421254 38421254 single base substitution T C downstream_gene_variant ESAD-UK 7 38421278 38421278 single base substitution C T downstream_gene_variant ESAD-UK 7 38421619 38421619 single base substitution A C downstream_gene_variant ESAD-UK 7 38421927 38421927 single base substitution G T downstream_gene_variant ESAD-UK 7 38421938 38421938 single base substitution T G downstream_gene_variant ESAD-UK 7 38422265 38422265 single base substitution G T downstream_gene_variant ESAD-UK 7 38422422 38422422 single base substitution C T downstream_gene_variant ESAD-UK 7 38422605 38422605 single base substitution C T downstream_gene_variant ESAD-UK 7 38422634 38422634 single base substitution T G downstream_gene_variant ESAD-UK 7 38422919 38422919 single base substitution T G downstream_gene_variant ESAD-UK 7 38423150 38423150 single base substitution A C downstream_gene_variant ESAD-UK 7 38423547 38423547 single base substitution A G 3_prime_UTR_variant ESAD-UK 7 38423547 38423547 single base substitution A G downstream_gene_variant ESAD-UK 7 38423631 38423631 single base substitution A G 3_prime_UTR_variant ESAD-UK 7 38423631 38423631 single base substitution A G downstream_gene_variant ESAD-UK 7 38423650 38423650 single base substitution G A 3_prime_UTR_variant ESAD-UK 7 38423650 38423650 single base substitution G A downstream_gene_variant ESAD-UK 7 38424022 38424022 single base substitution G A 3_prime_UTR_variant ESAD-UK 7 38424022 38424022 single base substitution G A downstream_gene_variant ESAD-UK 7 38424023 38424023 single base substitution A T 3_prime_UTR_variant ESAD-UK 7 38424023 38424023 single base substitution A T downstream_gene_variant ESAD-UK 7 38424132 38424132 single base substitution C A 3_prime_UTR_variant ESAD-UK 7 38424132 38424132 single base substitution C A downstream_gene_variant ESAD-UK 7 38424719 38424719 single base substitution A C downstream_gene_variant ESAD-UK 7 38424719 38424719 single base substitution A C intron_variant ESAD-UK 7 38425224 38425224 single base substitution C T downstream_gene_variant ESAD-UK 7 38425224 38425224 single base substitution C T intron_variant ESAD-UK 7 38425413 38425413 single base substitution A G downstream_gene_variant ESAD-UK 7 38425413 38425413 single base substitution A G intron_variant ESAD-UK 7 38425528 38425528 single base substitution T G downstream_gene_variant ESAD-UK 7 38425528 38425528 single base substitution T G intron_variant ESAD-UK 7 38425736 38425736 single base substitution C A downstream_gene_variant ESAD-UK 7 38425736 38425736 single base substitution C A intron_variant ESAD-UK 7 38425877 38425877 single base substitution T C downstream_gene_variant ESAD-UK 7 38425877 38425877 single base substitution T C intron_variant ESAD-UK 7 38425889 38425889 single base substitution A G downstream_gene_variant ESAD-UK 7 38425889 38425889 single base substitution A G intron_variant ESAD-UK 7 38425960 38425960 single base substitution A C downstream_gene_variant ESAD-UK 7 38425960 38425960 single base substitution A C intron_variant ESAD-UK 7 38426084 38426084 single base substitution A G downstream_gene_variant ESAD-UK 7 38426084 38426084 single base substitution A G intron_variant ESAD-UK 7 38426409 38426409 single base substitution T C downstream_gene_variant ESAD-UK 7 38426409 38426409 single base substitution T C intron_variant ESAD-UK 7 38426700 38426700 single base substitution A C downstream_gene_variant ESAD-UK 7 38426700 38426700 single base substitution A C intron_variant ESAD-UK 7 38426766 38426766 single base substitution T C downstream_gene_variant ESAD-UK 7 38426766 38426766 single base substitution T C intron_variant ESAD-UK 7 38426885 38426885 single base substitution G T downstream_gene_variant ESAD-UK 7 38426885 38426885 single base substitution G T intron_variant ESAD-UK 7 38426886 38426886 single base substitution C A downstream_gene_variant ESAD-UK 7 38426886 38426886 single base substitution C A intron_variant ESAD-UK 7 38427075 38427075 single base substitution A G downstream_gene_variant ESAD-UK 7 38427075 38427075 single base substitution A G intron_variant ESAD-UK 7 38427477 38427477 single base substitution C A downstream_gene_variant ESAD-UK 7 38427477 38427477 single base substitution C A intron_variant ESAD-UK 7 38427737 38427737 single base substitution A C downstream_gene_variant ESAD-UK 7 38427737 38427737 single base substitution A C intron_variant ESAD-UK 7 38427747 38427747 single base substitution G A downstream_gene_variant ESAD-UK 7 38427747 38427747 single base substitution G A intron_variant ESAD-UK 7 38428419 38428419 single base substitution A T downstream_gene_variant ESAD-UK 7 38428419 38428419 single base substitution A T intron_variant ESAD-UK 7 38431503 38431503 single base substitution G A downstream_gene_variant ESAD-UK 7 38431503 38431503 single base substitution G A exon_variant ESAD-UK 7 38431503 38431503 single base substitution G A missense_variant P457L 1370C>T ESAD-UK 7 38431503 38431503 single base substitution G A missense_variant P533L 1598C>T ESAD-UK 7 38431503 38431503 single base substitution G A missense_variant P575L 1724C>T ESAD-UK 7 38431512 38431512 single base substitution G A downstream_gene_variant ESAD-UK 7 38431512 38431512 single base substitution G A exon_variant ESAD-UK 7 38431512 38431512 single base substitution G A missense_variant A454V 1361C>T ESAD-UK 7 38431512 38431512 single base substitution G A missense_variant A530V 1589C>T ESAD-UK 7 38431512 38431512 single base substitution G A missense_variant A572V 1715C>T ESAD-UK 7 38432026 38432026 single base substitution G A downstream_gene_variant ESAD-UK 7 38432026 38432026 single base substitution G A intron_variant ESAD-UK 7 38432087 38432087 single base substitution C T downstream_gene_variant ESAD-UK 7 38432087 38432087 single base substitution C T intron_variant ESAD-UK 7 38432603 38432603 single base substitution C A downstream_gene_variant ESAD-UK 7 38432603 38432603 single base substitution C A intron_variant ESAD-UK 7 38432603 38432603 single base substitution C A upstream_gene_variant ESAD-UK 7 38432671 38432671 single base substitution A C downstream_gene_variant ESAD-UK 7 38432671 38432671 single base substitution A C intron_variant ESAD-UK 7 38432671 38432671 single base substitution A C upstream_gene_variant ESAD-UK 7 38432788 38432788 single base substitution A G downstream_gene_variant ESAD-UK 7 38432788 38432788 single base substitution A G intron_variant ESAD-UK 7 38432788 38432788 single base substitution A G upstream_gene_variant ESAD-UK 7 38432808 38432808 single base substitution A G downstream_gene_variant ESAD-UK 7 38432808 38432808 single base substitution A G intron_variant ESAD-UK 7 38432808 38432808 single base substitution A G upstream_gene_variant ESAD-UK 7 38432995 38432995 single base substitution G T downstream_gene_variant ESAD-UK 7 38432995 38432995 single base substitution G T intron_variant ESAD-UK 7 38432995 38432995 single base substitution G T upstream_gene_variant ESAD-UK 7 38433588 38433588 single base substitution C T downstream_gene_variant ESAD-UK 7 38433588 38433588 single base substitution C T intron_variant ESAD-UK 7 38433588 38433588 single base substitution C T upstream_gene_variant ESAD-UK 7 38433915 38433915 single base substitution C A intron_variant ESAD-UK 7 38433915 38433915 single base substitution C A upstream_gene_variant ESAD-UK 7 38434071 38434071 single base substitution A T intron_variant ESAD-UK 7 38434071 38434071 single base substitution A T upstream_gene_variant ESAD-UK 7 38434183 38434183 single base substitution A G intron_variant ESAD-UK 7 38434183 38434183 single base substitution A G upstream_gene_variant ESAD-UK 7 38435014 38435014 single base substitution A T intron_variant ESAD-UK 7 38435014 38435014 single base substitution A T upstream_gene_variant ESAD-UK 7 38437797 38437797 single base substitution A C intron_variant ESAD-UK 7 38437798 38437798 single base substitution A C intron_variant ESAD-UK 7 38438026 38438026 single base substitution G A intron_variant ESAD-UK 7 38438033 38438033 single base substitution G T intron_variant ESAD-UK 7 38438317 38438317 single base substitution A G intron_variant ESAD-UK 7 38438492 38438492 single base substitution C G intron_variant ESAD-UK 7 38439743 38439743 single base substitution T A intron_variant ESAD-UK 7 38439743 38439743 single base substitution T C intron_variant ESAD-UK 7 38440275 38440275 single base substitution T C intron_variant ESAD-UK 7 38440275 38440275 single base substitution T G intron_variant ESAD-UK 7 38440526 38440526 single base substitution A T intron_variant ESAD-UK 7 38440845 38440845 single base substitution C A intron_variant ESAD-UK 7 38441127 38441127 single base substitution T C intron_variant ESAD-UK 7 38441392 38441392 single base substitution G T intron_variant ESAD-UK 7 38441410 38441410 single base substitution T C intron_variant ESAD-UK 7 38441410 38441410 single base substitution T G intron_variant ESAD-UK 7 38441662 38441662 single base substitution T C intron_variant ESAD-UK 7 38442624 38442624 single base substitution T A intron_variant ESAD-UK 7 38443364 38443364 single base substitution A G intron_variant ESAD-UK 7 38444005 38444005 single base substitution T G intron_variant ESAD-UK 7 38444404 38444404 single base substitution A C intron_variant ESAD-UK 7 38444437 38444437 single base substitution C T intron_variant ESAD-UK 7 38444607 38444607 single base substitution A C intron_variant ESAD-UK 7 38444801 38444801 single base substitution T A intron_variant ESAD-UK 7 38445027 38445027 single base substitution A G intron_variant ESAD-UK 7 38445028 38445028 single base substitution A C intron_variant ESAD-UK 7 38445089 38445089 single base substitution A C intron_variant ESAD-UK 7 38445089 38445089 single base substitution A G intron_variant ESAD-UK 7 38445239 38445239 single base substitution A C intron_variant ESAD-UK 7 38445416 38445416 single base substitution A C intron_variant ESAD-UK 7 38445464 38445464 single base substitution A C intron_variant ESAD-UK 7 38445592 38445592 single base substitution T C intron_variant ESAD-UK 7 38445611 38445611 single base substitution C T intron_variant ESAD-UK 7 38445702 38445702 single base substitution A C intron_variant ESAD-UK 7 38445739 38445739 single base substitution A C intron_variant ESAD-UK 7 38446896 38446896 single base substitution G T intron_variant ESAD-UK 7 38447938 38447938 single base substitution A T intron_variant ESAD-UK 7 38448077 38448077 single base substitution T G intron_variant ESAD-UK 7 38448301 38448301 single base substitution A G intron_variant ESAD-UK 7 38448583 38448583 single base substitution A G intron_variant ESAD-UK 7 38448881 38448881 single base substitution A C intron_variant ESAD-UK 7 38448916 38448916 single base substitution C A intron_variant ESAD-UK 7 38449104 38449104 single base substitution C T intron_variant ESAD-UK 7 38449273 38449273 single base substitution C A intron_variant ESAD-UK 7 38449440 38449440 single base substitution A C intron_variant ESAD-UK 7 38449440 38449440 single base substitution A G intron_variant ESAD-UK 7 38450599 38450599 single base substitution G A intron_variant ESAD-UK 7 38451197 38451197 single base substitution T G intron_variant ESAD-UK 7 38451716 38451716 single base substitution G C intron_variant ESAD-UK 7 38452004 38452004 single base substitution A G intron_variant ESAD-UK 7 38452293 38452293 single base substitution T G intron_variant ESAD-UK 7 38452660 38452660 single base substitution A T intron_variant ESAD-UK 7 38452824 38452824 single base substitution G T intron_variant ESAD-UK 7 38452977 38452977 single base substitution A C intron_variant ESAD-UK 7 38452986 38452986 single base substitution A C intron_variant ESAD-UK 7 38453212 38453212 single base substitution C A intron_variant ESAD-UK 7 38453245 38453245 single base substitution T G intron_variant ESAD-UK 7 38453246 38453246 single base substitution T C intron_variant ESAD-UK 7 38453331 38453331 single base substitution A C intron_variant ESAD-UK 7 38453764 38453764 single base substitution T G intron_variant ESAD-UK 7 38453828 38453828 single base substitution A G intron_variant ESAD-UK 7 38454334 38454334 single base substitution C A intron_variant ESAD-UK 7 38454391 38454391 single base substitution A C intron_variant ESAD-UK 7 38454864 38454864 deletion of <=200bp A - intron_variant ESAD-UK 7 38454871 38454871 single base substitution A C intron_variant ESAD-UK 7 38454985 38454985 single base substitution T G intron_variant ESAD-UK 7 38455129 38455129 single base substitution A G intron_variant ESAD-UK 7 38455281 38455281 single base substitution A C intron_variant ESAD-UK 7 38456035 38456035 single base substitution T G intron_variant ESAD-UK 7 38456677 38456677 insertion of <=200bp - T intron_variant ESAD-UK 7 38457547 38457547 single base substitution C T exon_variant ESAD-UK 7 38457547 38457547 single base substitution C T intron_variant ESAD-UK 7 38457547 38457547 single base substitution C T missense_variant E426K 1276G>A ESAD-UK 7 38457564 38457564 single base substitution T G exon_variant ESAD-UK 7 38457564 38457564 single base substitution T G intron_variant ESAD-UK 7 38457584 38457584 single base substitution A G exon_variant ESAD-UK 7 38457584 38457584 single base substitution A G intron_variant ESAD-UK 7 38457674 38457674 single base substitution G A intron_variant ESAD-UK 7 38457674 38457674 single base substitution G A upstream_gene_variant ESAD-UK 7 38458015 38458015 single base substitution A C intron_variant ESAD-UK 7 38458015 38458015 single base substitution A C upstream_gene_variant ESAD-UK 7 38458176 38458176 single base substitution G C intron_variant ESAD-UK 7 38458176 38458176 single base substitution G C upstream_gene_variant ESAD-UK 7 38458521 38458521 single base substitution G A intron_variant ESAD-UK 7 38458521 38458521 single base substitution G A upstream_gene_variant ESAD-UK 7 38458656 38458656 single base substitution C A intron_variant ESAD-UK 7 38458656 38458656 single base substitution C A upstream_gene_variant ESAD-UK 7 38458758 38458758 single base substitution T G intron_variant ESAD-UK 7 38458758 38458758 single base substitution T G upstream_gene_variant ESAD-UK 7 38458862 38458862 single base substitution T G intron_variant ESAD-UK 7 38458862 38458862 single base substitution T G upstream_gene_variant ESAD-UK 7 38458986 38458986 single base substitution T C intron_variant ESAD-UK 7 38458986 38458986 single base substitution T C upstream_gene_variant ESAD-UK 7 38459028 38459028 single base substitution T A intron_variant ESAD-UK 7 38459028 38459028 single base substitution T A upstream_gene_variant ESAD-UK 7 38459028 38459028 single base substitution T C intron_variant ESAD-UK 7 38459028 38459028 single base substitution T C upstream_gene_variant ESAD-UK 7 38459085 38459085 single base substitution A C intron_variant ESAD-UK 7 38459085 38459085 single base substitution A C upstream_gene_variant ESAD-UK 7 38459107 38459107 single base substitution A C intron_variant ESAD-UK 7 38459107 38459107 single base substitution A C upstream_gene_variant ESAD-UK 7 38459162 38459162 single base substitution T A intron_variant ESAD-UK 7 38459162 38459162 single base substitution T A upstream_gene_variant ESAD-UK 7 38459181 38459181 single base substitution T G intron_variant ESAD-UK 7 38459181 38459181 single base substitution T G upstream_gene_variant ESAD-UK 7 38459432 38459432 single base substitution A T intron_variant ESAD-UK 7 38459432 38459432 single base substitution A T upstream_gene_variant ESAD-UK 7 38459700 38459700 single base substitution C T intron_variant ESAD-UK 7 38459700 38459700 single base substitution C T upstream_gene_variant ESAD-UK 7 38459740 38459740 single base substitution T G intron_variant ESAD-UK 7 38459740 38459740 single base substitution T G upstream_gene_variant ESAD-UK 7 38459840 38459840 single base substitution C A intron_variant ESAD-UK 7 38459840 38459840 single base substitution C A upstream_gene_variant ESAD-UK 7 38459856 38459856 single base substitution A G intron_variant ESAD-UK 7 38459856 38459856 single base substitution A G upstream_gene_variant ESAD-UK 7 38459886 38459886 single base substitution A C intron_variant ESAD-UK 7 38459886 38459886 single base substitution A C upstream_gene_variant ESAD-UK 7 38459987 38459987 single base substitution A G intron_variant ESAD-UK 7 38459987 38459987 single base substitution A G upstream_gene_variant ESAD-UK 7 38460620 38460620 single base substitution G C intron_variant ESAD-UK 7 38460620 38460620 single base substitution G C splice_region_variant ESAD-UK 7 38460620 38460620 single base substitution G C upstream_gene_variant ESAD-UK 7 38461136 38461136 single base substitution A T intron_variant ESAD-UK 7 38461136 38461136 single base substitution A T upstream_gene_variant ESAD-UK 7 38461360 38461360 single base substitution A C intron_variant ESAD-UK 7 38461360 38461360 single base substitution A C upstream_gene_variant ESAD-UK 7 38461360 38461360 single base substitution A G intron_variant ESAD-UK 7 38461360 38461360 single base substitution A G upstream_gene_variant ESAD-UK 7 38461724 38461724 single base substitution T G intron_variant ESAD-UK 7 38461724 38461724 single base substitution T G upstream_gene_variant ESAD-UK 7 38461877 38461877 single base substitution C T intron_variant ESAD-UK 7 38461877 38461877 single base substitution C T upstream_gene_variant ESAD-UK 7 38461899 38461899 single base substitution A T intron_variant ESAD-UK 7 38461899 38461899 single base substitution A T upstream_gene_variant ESAD-UK 7 38462066 38462066 single base substitution A G exon_variant ESAD-UK 7 38462066 38462066 single base substitution A G synonymous_variant T333T 999T>C ESAD-UK 7 38462066 38462066 single base substitution A G synonymous_variant T409T 1227T>C ESAD-UK 7 38462066 38462066 single base substitution A G upstream_gene_variant ESAD-UK 7 38462462 38462462 single base substitution T A intron_variant ESAD-UK 7 38462462 38462462 single base substitution T A upstream_gene_variant ESAD-UK 7 38462470 38462470 single base substitution T C intron_variant ESAD-UK 7 38462470 38462470 single base substitution T C upstream_gene_variant ESAD-UK 7 38462551 38462551 single base substitution C A intron_variant ESAD-UK 7 38462551 38462551 single base substitution C A upstream_gene_variant ESAD-UK 7 38462765 38462765 single base substitution G T intron_variant ESAD-UK 7 38462805 38462805 single base substitution C G intron_variant ESAD-UK 7 38462894 38462894 single base substitution A C intron_variant ESAD-UK 7 38462935 38462935 single base substitution G A intron_variant ESAD-UK 7 38463329 38463329 single base substitution A C intron_variant ESAD-UK 7 38463568 38463568 single base substitution T G intron_variant ESAD-UK 7 38463777 38463777 single base substitution G T intron_variant ESAD-UK 7 38463787 38463787 single base substitution C A intron_variant ESAD-UK 7 38464529 38464529 single base substitution T A intron_variant ESAD-UK 7 38464691 38464691 single base substitution T C intron_variant ESAD-UK 7 38465034 38465034 single base substitution A C intron_variant ESAD-UK 7 38465243 38465243 single base substitution C A intron_variant ESAD-UK 7 38465277 38465277 single base substitution A C intron_variant ESAD-UK 7 38465277 38465277 single base substitution A G intron_variant ESAD-UK 7 38465538 38465538 single base substitution G T intron_variant ESAD-UK 7 38465775 38465775 single base substitution T A intron_variant ESAD-UK 7 38466464 38466464 single base substitution C A intron_variant ESAD-UK 7 38467704 38467704 single base substitution T A exon_variant ESAD-UK 7 38467704 38467704 single base substitution T A intron_variant ESAD-UK 7 38467803 38467803 single base substitution A G exon_variant ESAD-UK 7 38467803 38467803 single base substitution A G intron_variant ESAD-UK 7 38468024 38468024 single base substitution A C exon_variant ESAD-UK 7 38468024 38468024 single base substitution A C intron_variant ESAD-UK 7 38468039 38468039 single base substitution T G exon_variant ESAD-UK 7 38468039 38468039 single base substitution T G intron_variant ESAD-UK 7 38468054 38468054 single base substitution A C exon_variant ESAD-UK 7 38468054 38468054 single base substitution A C intron_variant ESAD-UK 7 38468058 38468058 single base substitution T G exon_variant ESAD-UK 7 38468058 38468058 single base substitution T G intron_variant ESAD-UK 7 38468231 38468231 single base substitution T C exon_variant ESAD-UK 7 38468231 38468231 single base substitution T C intron_variant ESAD-UK 7 38468244 38468244 single base substitution C A exon_variant ESAD-UK 7 38468244 38468244 single base substitution C A intron_variant ESAD-UK 7 38468942 38468942 single base substitution G A intron_variant ESAD-UK 7 38468942 38468942 single base substitution G A missense_variant S223F 668C>T ESAD-UK 7 38468942 38468942 single base substitution G A upstream_gene_variant ESAD-UK 7 38469031 38469031 single base substitution T G intron_variant ESAD-UK 7 38469031 38469031 single base substitution T G missense_variant Q193H 579A>C ESAD-UK 7 38469031 38469031 single base substitution T G upstream_gene_variant ESAD-UK 7 38469124 38469124 single base substitution T G intron_variant ESAD-UK 7 38469124 38469124 single base substitution T G synonymous_variant P162P 486A>C ESAD-UK 7 38469124 38469124 single base substitution T G upstream_gene_variant ESAD-UK 7 38469319 38469319 single base substitution G A intron_variant ESAD-UK 7 38469319 38469319 single base substitution G A upstream_gene_variant ESAD-UK 7 38469343 38469343 single base substitution G C intron_variant ESAD-UK 7 38469343 38469343 single base substitution G C upstream_gene_variant ESAD-UK 7 38469499 38469499 single base substitution G A exon_variant ESAD-UK 7 38469499 38469499 single base substitution G A intron_variant ESAD-UK 7 38469499 38469499 single base substitution G A upstream_gene_variant ESAD-UK 7 38469554 38469554 single base substitution T C exon_variant ESAD-UK 7 38469554 38469554 single base substitution T C intron_variant ESAD-UK 7 38469554 38469554 single base substitution T C upstream_gene_variant ESAD-UK 7 38469632 38469632 single base substitution A C exon_variant ESAD-UK 7 38469632 38469632 single base substitution A C intron_variant ESAD-UK 7 38469632 38469632 single base substitution A C upstream_gene_variant ESAD-UK 7 38469633 38469633 single base substitution A G exon_variant ESAD-UK 7 38469633 38469633 single base substitution A G intron_variant ESAD-UK 7 38469633 38469633 single base substitution A G upstream_gene_variant ESAD-UK 7 38469685 38469685 single base substitution T C intron_variant ESAD-UK 7 38469685 38469685 single base substitution T C upstream_gene_variant ESAD-UK 7 38469735 38469735 single base substitution T C intron_variant ESAD-UK 7 38469735 38469735 single base substitution T C upstream_gene_variant ESAD-UK 7 38469965 38469965 single base substitution T C intron_variant ESAD-UK 7 38469965 38469965 single base substitution T C upstream_gene_variant ESAD-UK 7 38470018 38470018 single base substitution T A intron_variant ESAD-UK 7 38470018 38470018 single base substitution T A upstream_gene_variant ESAD-UK 7 38470105 38470105 single base substitution A T intron_variant ESAD-UK 7 38470105 38470105 single base substitution A T upstream_gene_variant ESAD-UK 7 38470428 38470428 single base substitution C G intron_variant ESAD-UK 7 38470428 38470428 single base substitution C G upstream_gene_variant ESAD-UK 7 38470942 38470942 single base substitution A C intron_variant ESAD-UK 7 38470942 38470942 single base substitution A C upstream_gene_variant ESAD-UK 7 38471754 38471754 single base substitution A C intron_variant ESAD-UK 7 38471754 38471754 single base substitution A C upstream_gene_variant ESAD-UK 7 38471864 38471864 single base substitution A C intron_variant ESAD-UK 7 38471864 38471864 single base substitution A C upstream_gene_variant ESAD-UK 7 38471884 38471884 single base substitution A C intron_variant ESAD-UK 7 38471884 38471884 single base substitution A C upstream_gene_variant ESAD-UK 7 38471886 38471886 single base substitution T G intron_variant ESAD-UK 7 38471886 38471886 single base substitution T G upstream_gene_variant ESAD-UK 7 38471927 38471927 single base substitution C T intron_variant ESAD-UK 7 38471927 38471927 single base substitution C T upstream_gene_variant ESAD-UK 7 38472257 38472257 single base substitution T G intron_variant ESAD-UK 7 38472257 38472257 single base substitution T G upstream_gene_variant ESAD-UK 7 38472734 38472734 single base substitution A C intron_variant ESAD-UK 7 38472734 38472734 single base substitution A C upstream_gene_variant ESAD-UK 7 38473789 38473789 single base substitution T C intron_variant ESAD-UK 7 38473789 38473789 single base substitution T C upstream_gene_variant ESAD-UK 7 38474136 38474136 single base substitution G A intron_variant ESAD-UK 7 38474136 38474136 single base substitution G A upstream_gene_variant ESAD-UK 7 38474289 38474289 single base substitution A C intron_variant ESAD-UK 7 38474289 38474289 single base substitution A C upstream_gene_variant ESAD-UK 7 38474382 38474382 single base substitution A C intron_variant ESAD-UK 7 38474382 38474382 single base substitution A C upstream_gene_variant ESAD-UK 7 38474616 38474616 single base substitution A T intron_variant ESAD-UK 7 38474616 38474616 single base substitution A T upstream_gene_variant ESAD-UK 7 38475234 38475234 single base substitution C T intron_variant ESAD-UK 7 38475448 38475448 single base substitution T A intron_variant ESAD-UK 7 38475517 38475517 single base substitution A C intron_variant ESAD-UK 7 38475727 38475727 single base substitution C T intron_variant ESAD-UK 7 38475809 38475809 single base substitution T G intron_variant ESAD-UK 7 38475976 38475976 single base substitution C T missense_variant E344K 1030G>A ESAD-UK 7 38475976 38475976 single base substitution C T missense_variant E94K 280G>A ESAD-UK 7 38476378 38476378 single base substitution A C intron_variant ESAD-UK 7 38476378 38476378 single base substitution A G intron_variant ESAD-UK 7 38476381 38476381 single base substitution T A intron_variant ESAD-UK 7 38476452 38476452 single base substitution T G intron_variant ESAD-UK 7 38476800 38476800 single base substitution A C intron_variant ESAD-UK 7 38477295 38477295 single base substitution T C intron_variant ESAD-UK 7 38477335 38477335 single base substitution C T intron_variant ESAD-UK 7 38477554 38477554 single base substitution C T intron_variant ESAD-UK 7 38477740 38477740 single base substitution A G intron_variant ESAD-UK 7 38478059 38478059 single base substitution T C intron_variant ESAD-UK 7 38478367 38478367 single base substitution T G intron_variant ESAD-UK 7 38478381 38478381 single base substitution G A intron_variant ESAD-UK 7 38478682 38478682 single base substitution A C intron_variant ESAD-UK 7 38478723 38478723 single base substitution T G intron_variant ESAD-UK 7 38478818 38478818 single base substitution T C intron_variant ESAD-UK 7 38478902 38478902 single base substitution T C intron_variant ESAD-UK 7 38478973 38478973 single base substitution C A intron_variant ESAD-UK 7 38478974 38478974 single base substitution T G intron_variant ESAD-UK 7 38479099 38479099 single base substitution A G intron_variant ESAD-UK 7 38479266 38479266 single base substitution T G intron_variant ESAD-UK 7 38479276 38479276 single base substitution G C intron_variant ESAD-UK 7 38479521 38479521 single base substitution G T intron_variant ESAD-UK 7 38479648 38479648 single base substitution C T intron_variant ESAD-UK 7 38480025 38480025 single base substitution T G intron_variant ESAD-UK 7 38480116 38480116 single base substitution T G intron_variant ESAD-UK 7 38480300 38480300 single base substitution T C intron_variant ESAD-UK 7 38480438 38480438 single base substitution G T intron_variant ESAD-UK 7 38480973 38480973 single base substitution T G intron_variant ESAD-UK 7 38481122 38481122 deletion of <=200bp T - intron_variant ESAD-UK 7 38481132 38481132 single base substitution A T intron_variant ESAD-UK 7 38481443 38481443 insertion of <=200bp - TG intron_variant ESAD-UK 7 38481788 38481788 single base substitution C A intron_variant ESAD-UK 7 38481831 38481831 single base substitution C G intron_variant ESAD-UK 7 38481846 38481846 single base substitution T G intron_variant ESAD-UK 7 38482362 38482362 single base substitution A C intron_variant ESAD-UK 7 38482647 38482647 single base substitution T C intron_variant ESAD-UK 7 38482766 38482766 single base substitution A C intron_variant ESAD-UK 7 38483462 38483462 single base substitution A G intron_variant ESAD-UK 7 38483468 38483468 single base substitution G T intron_variant ESAD-UK 7 38483478 38483478 single base substitution T A intron_variant ESAD-UK 7 38483535 38483535 single base substitution A T intron_variant ESAD-UK 7 38483768 38483768 single base substitution G T intron_variant ESAD-UK 7 38484329 38484329 single base substitution A G intron_variant ESAD-UK 7 38485446 38485446 single base substitution A C intron_variant ESAD-UK 7 38485595 38485595 single base substitution C T intron_variant ESAD-UK 7 38486023 38486023 single base substitution G T intron_variant ESAD-UK 7 38486308 38486308 single base substitution A T intron_variant ESAD-UK 7 38486325 38486325 single base substitution A G intron_variant ESAD-UK 7 38486687 38486687 single base substitution T G intron_variant ESAD-UK 7 38486851 38486851 single base substitution T C intron_variant ESAD-UK 7 38486943 38486943 deletion of <=200bp A - intron_variant ESAD-UK 7 38486949 38486949 single base substitution G T intron_variant ESAD-UK 7 38487024 38487024 single base substitution T A intron_variant ESAD-UK 7 38487233 38487233 single base substitution T C intron_variant ESAD-UK 7 38487446 38487446 single base substitution A G intron_variant ESAD-UK 7 38487780 38487780 single base substitution A C intron_variant ESAD-UK 7 38488193 38488193 single base substitution G T intron_variant ESAD-UK 7 38488664 38488664 single base substitution T G intron_variant ESAD-UK 7 38488679 38488679 single base substitution C G intron_variant ESAD-UK 7 38489367 38489367 single base substitution T G intron_variant ESAD-UK 7 38489455 38489455 single base substitution G T intron_variant ESAD-UK 7 38489521 38489521 single base substitution G T intron_variant ESAD-UK 7 38489715 38489715 single base substitution T G intron_variant ESAD-UK 7 38490762 38490762 single base substitution A C intron_variant ESAD-UK 7 38490925 38490925 single base substitution A G intron_variant ESAD-UK 7 38491191 38491191 single base substitution T G intron_variant ESAD-UK 7 38491195 38491195 single base substitution C A intron_variant ESAD-UK 7 38491406 38491406 single base substitution A C intron_variant ESAD-UK 7 38491647 38491647 single base substitution T G intron_variant ESAD-UK 7 38491806 38491806 single base substitution A C intron_variant ESAD-UK 7 38492247 38492247 single base substitution G C intron_variant ESAD-UK 7 38492277 38492277 single base substitution A C intron_variant ESAD-UK 7 38492495 38492495 single base substitution A T intron_variant ESAD-UK 7 38492580 38492580 single base substitution A C intron_variant ESAD-UK 7 38492749 38492749 single base substitution T C intron_variant ESAD-UK 7 38492770 38492770 single base substitution G T intron_variant ESAD-UK 7 38492841 38492841 single base substitution A G intron_variant ESAD-UK 7 38492870 38492870 single base substitution A G intron_variant ESAD-UK 7 38492882 38492882 single base substitution A G intron_variant ESAD-UK 7 38492946 38492946 single base substitution G C intron_variant ESAD-UK 7 38493104 38493104 single base substitution C T intron_variant ESAD-UK 7 38493535 38493535 single base substitution T G intron_variant ESAD-UK 7 38493600 38493600 single base substitution G A intron_variant ESAD-UK 7 38493621 38493621 single base substitution G T intron_variant ESAD-UK 7 38493812 38493812 single base substitution A C intron_variant ESAD-UK 7 38494454 38494454 single base substitution A C intron_variant ESAD-UK 7 38494659 38494659 single base substitution G A intron_variant ESAD-UK 7 38494769 38494769 single base substitution T C intron_variant ESAD-UK 7 38495091 38495091 single base substitution A C intron_variant ESAD-UK 7 38495102 38495102 single base substitution T G intron_variant ESAD-UK 7 38495285 38495285 single base substitution T G intron_variant ESAD-UK 7 38495299 38495299 single base substitution A C intron_variant ESAD-UK 7 38495561 38495561 single base substitution A C intron_variant ESAD-UK 7 38495573 38495573 single base substitution A C intron_variant ESAD-UK 7 38495945 38495945 single base substitution A C intron_variant ESAD-UK 7 38495983 38495983 single base substitution A T intron_variant ESAD-UK 7 38495987 38495987 deletion of <=200bp T - intron_variant ESAD-UK 7 38495987 38495987 single base substitution T C intron_variant ESAD-UK 7 38495997 38495997 single base substitution T C intron_variant ESAD-UK 7 38495997 38495997 single base substitution T G intron_variant ESAD-UK 7 38496027 38496027 single base substitution T G intron_variant ESAD-UK 7 38496273 38496273 single base substitution C T intron_variant ESAD-UK 7 38496384 38496384 single base substitution A C intron_variant ESAD-UK 7 38496474 38496474 single base substitution C T intron_variant ESAD-UK 7 38496558 38496558 single base substitution A C intron_variant ESAD-UK 7 38497070 38497070 single base substitution C G intron_variant ESAD-UK 7 38497263 38497263 single base substitution A C intron_variant ESAD-UK 7 38498481 38498481 single base substitution G A intron_variant ESAD-UK 7 38498565 38498565 single base substitution A C intron_variant ESAD-UK 7 38498584 38498584 deletion of <=200bp A - intron_variant ESAD-UK 7 38498587 38498587 single base substitution A C intron_variant ESAD-UK 7 38498915 38498915 single base substitution C T intron_variant ESAD-UK 7 38499315 38499315 single base substitution A C intron_variant ESAD-UK 7 38499379 38499379 single base substitution T G intron_variant ESAD-UK 7 38499388 38499388 single base substitution A C intron_variant ESAD-UK 7 38499407 38499407 single base substitution A G intron_variant ESAD-UK 7 38499957 38499957 single base substitution A C intron_variant ESAD-UK 7 38500340 38500340 single base substitution A G intron_variant ESAD-UK 7 38500594 38500594 single base substitution A G intron_variant ESAD-UK 7 38500684 38500684 single base substitution A T intron_variant ESAD-UK 7 38501141 38501141 single base substitution A C intron_variant ESAD-UK 7 38501508 38501508 single base substitution T G intron_variant ESAD-UK 7 38501662 38501662 single base substitution T G intron_variant ESAD-UK 7 38501816 38501816 single base substitution T C intron_variant ESAD-UK 7 38501965 38501965 single base substitution T C intron_variant ESAD-UK 7 38502601 38502601 single base substitution G A missense_variant P288S 862C>T ESAD-UK 7 38502601 38502601 single base substitution G A missense_variant P38S 112C>T ESAD-UK 7 38502657 38502657 single base substitution G T missense_variant P19H 56C>A ESAD-UK 7 38502657 38502657 single base substitution G T missense_variant P269H 806C>A ESAD-UK 7 38503089 38503089 single base substitution A T intron_variant ESAD-UK 7 38503089 38503089 single base substitution A T upstream_gene_variant ESAD-UK 7 38503243 38503243 single base substitution A G intron_variant ESAD-UK 7 38503243 38503243 single base substitution A G upstream_gene_variant ESAD-UK 7 38503952 38503952 single base substitution T C intron_variant ESAD-UK 7 38503952 38503952 single base substitution T C upstream_gene_variant ESAD-UK 7 38504055 38504055 single base substitution A C intron_variant ESAD-UK 7 38504055 38504055 single base substitution A C upstream_gene_variant ESAD-UK 7 38504358 38504358 single base substitution C T intron_variant ESAD-UK 7 38504358 38504358 single base substitution C T upstream_gene_variant ESAD-UK 7 38504414 38504414 single base substitution A C intron_variant ESAD-UK 7 38504414 38504414 single base substitution A C upstream_gene_variant ESAD-UK 7 38504630 38504630 single base substitution T A intron_variant ESAD-UK 7 38504630 38504630 single base substitution T A upstream_gene_variant ESAD-UK 7 38504708 38504708 single base substitution T G intron_variant ESAD-UK 7 38504708 38504708 single base substitution T G upstream_gene_variant ESAD-UK 7 38504745 38504745 single base substitution T A intron_variant ESAD-UK 7 38504745 38504745 single base substitution T A upstream_gene_variant ESAD-UK 7 38504850 38504850 single base substitution A G intron_variant ESAD-UK 7 38504850 38504850 single base substitution A G upstream_gene_variant ESAD-UK 7 38504872 38504872 single base substitution A C intron_variant ESAD-UK 7 38504872 38504872 single base substitution A C upstream_gene_variant ESAD-UK 7 38505290 38505290 single base substitution C A intron_variant ESAD-UK 7 38505290 38505290 single base substitution C A upstream_gene_variant ESAD-UK 7 38506139 38506139 single base substitution C T intron_variant ESAD-UK 7 38506139 38506139 single base substitution C T upstream_gene_variant ESAD-UK 7 38506228 38506228 single base substitution C T intron_variant ESAD-UK 7 38506228 38506228 single base substitution C T upstream_gene_variant ESAD-UK 7 38506271 38506271 single base substitution T C intron_variant ESAD-UK 7 38506271 38506271 single base substitution T C upstream_gene_variant ESAD-UK 7 38506506 38506506 single base substitution T G intron_variant ESAD-UK 7 38506506 38506506 single base substitution T G upstream_gene_variant ESAD-UK 7 38506518 38506518 single base substitution C A intron_variant ESAD-UK 7 38506518 38506518 single base substitution C A upstream_gene_variant ESAD-UK 7 38506577 38506577 single base substitution T G intron_variant ESAD-UK 7 38506577 38506577 single base substitution T G upstream_gene_variant ESAD-UK 7 38506697 38506697 single base substitution A C intron_variant ESAD-UK 7 38506697 38506697 single base substitution A C upstream_gene_variant ESAD-UK 7 38507078 38507078 single base substitution T C intron_variant ESAD-UK 7 38507078 38507078 single base substitution T C upstream_gene_variant ESAD-UK 7 38507630 38507630 single base substitution T C intron_variant ESAD-UK 7 38507630 38507630 single base substitution T C upstream_gene_variant ESAD-UK 7 38507943 38507943 single base substitution T G intron_variant ESAD-UK 7 38508260 38508260 single base substitution G T intron_variant ESAD-UK 7 38508443 38508443 single base substitution T G intron_variant ESAD-UK 7 38509102 38509102 single base substitution T A intron_variant ESAD-UK 7 38509391 38509391 single base substitution A C intron_variant ESAD-UK 7 38509896 38509896 single base substitution T G intron_variant ESAD-UK 7 38510033 38510033 single base substitution C T intron_variant ESAD-UK 7 38510034 38510034 single base substitution T G intron_variant ESAD-UK 7 38510035 38510035 single base substitution T G intron_variant ESAD-UK 7 38510092 38510092 single base substitution T G intron_variant ESAD-UK 7 38510104 38510104 single base substitution T G intron_variant ESAD-UK 7 38510282 38510282 single base substitution T C intron_variant ESAD-UK 7 38510334 38510334 single base substitution T G intron_variant ESAD-UK 7 38510393 38510393 single base substitution A C intron_variant ESAD-UK 7 38510438 38510438 single base substitution C G intron_variant ESAD-UK 7 38510532 38510532 single base substitution A T intron_variant ESAD-UK 7 38510579 38510579 single base substitution T C intron_variant ESAD-UK 7 38510724 38510724 single base substitution C A intron_variant ESAD-UK 7 38510726 38510726 single base substitution G T intron_variant ESAD-UK 7 38510901 38510901 single base substitution T G intron_variant ESAD-UK 7 38510985 38510985 single base substitution C A intron_variant ESAD-UK 7 38511596 38511596 single base substitution T C intron_variant ESAD-UK 7 38511675 38511675 single base substitution G T intron_variant ESAD-UK 7 38511681 38511681 single base substitution T G intron_variant ESAD-UK 7 38511687 38511687 single base substitution A C intron_variant ESAD-UK 7 38511699 38511699 single base substitution A C intron_variant ESAD-UK 7 38512563 38512563 single base substitution T G intron_variant ESAD-UK 7 38512913 38512913 single base substitution T A intron_variant ESAD-UK 7 38513892 38513892 single base substitution G T intron_variant ESAD-UK 7 38513939 38513939 single base substitution T A intron_variant ESAD-UK 7 38515011 38515011 single base substitution T A missense_variant E170D 510A>T ESAD-UK 7 38515103 38515103 single base substitution T G intron_variant ESAD-UK 7 38515234 38515234 single base substitution A T intron_variant ESAD-UK 7 38515622 38515622 single base substitution A C intron_variant ESAD-UK 7 38515795 38515795 single base substitution G T intron_variant ESAD-UK 7 38516003 38516003 single base substitution G A intron_variant ESAD-UK 7 38516237 38516237 single base substitution A T intron_variant ESAD-UK 7 38516252 38516252 single base substitution A C intron_variant ESAD-UK 7 38516349 38516349 single base substitution T G intron_variant ESAD-UK 7 38516428 38516428 single base substitution G A intron_variant ESAD-UK 7 38516490 38516490 single base substitution T G missense_variant K159T 476A>C ESAD-UK 7 38516544 38516544 single base substitution T C missense_variant K141R 422A>G ESAD-UK 7 38516560 38516560 single base substitution C T missense_variant A136T 406G>A ESAD-UK 7 38516579 38516579 single base substitution G C intron_variant ESAD-UK 7 38516653 38516653 single base substitution T C intron_variant ESAD-UK 7 38516794 38516794 single base substitution A T intron_variant ESAD-UK 7 38516995 38516995 single base substitution A T intron_variant ESAD-UK 7 38517139 38517139 single base substitution G T intron_variant ESAD-UK 7 38517639 38517639 single base substitution A C intron_variant ESAD-UK 7 38517643 38517643 single base substitution G A intron_variant ESAD-UK 7 38517712 38517712 single base substitution C T intron_variant ESAD-UK 7 38518348 38518348 single base substitution G T intron_variant ESAD-UK 7 38518430 38518430 single base substitution A C intron_variant ESAD-UK 7 38518458 38518458 single base substitution C T intron_variant ESAD-UK 7 38519258 38519258 single base substitution T C intron_variant ESAD-UK 7 38519389 38519389 single base substitution C T intron_variant ESAD-UK 7 38519470 38519470 single base substitution A G intron_variant ESAD-UK 7 38520247 38520247 single base substitution A G intron_variant ESAD-UK 7 38520360 38520360 single base substitution T G intron_variant ESAD-UK 7 38520403 38520403 single base substitution A G intron_variant ESAD-UK 7 38520939 38520939 single base substitution T G intron_variant ESAD-UK 7 38520957 38520957 single base substitution G T intron_variant ESAD-UK 7 38521086 38521086 single base substitution T G intron_variant ESAD-UK 7 38521314 38521314 single base substitution T A intron_variant ESAD-UK 7 38521499 38521499 single base substitution C T intron_variant ESAD-UK 7 38521538 38521538 single base substitution T A intron_variant ESAD-UK 7 38521606 38521606 single base substitution T C intron_variant ESAD-UK 7 38521761 38521761 single base substitution T G intron_variant ESAD-UK 7 38521849 38521849 single base substitution G T intron_variant ESAD-UK 7 38522206 38522206 single base substitution A C intron_variant ESAD-UK 7 38522234 38522234 single base substitution A C intron_variant ESAD-UK 7 38522885 38522885 single base substitution T C intron_variant ESAD-UK 7 38523054 38523054 single base substitution G A intron_variant ESAD-UK 7 38523219 38523219 single base substitution A C intron_variant ESAD-UK 7 38523231 38523231 single base substitution T C intron_variant ESAD-UK 7 38523554 38523554 single base substitution A C intron_variant ESAD-UK 7 38524366 38524366 single base substitution C T intron_variant ESAD-UK 7 38524531 38524531 single base substitution A G intron_variant ESAD-UK 7 38524589 38524589 single base substitution A G intron_variant ESAD-UK 7 38524710 38524710 single base substitution C G intron_variant ESAD-UK 7 38525090 38525090 single base substitution C T intron_variant ESAD-UK 7 38525125 38525125 single base substitution C A intron_variant ESAD-UK 7 38525295 38525295 single base substitution A C intron_variant ESAD-UK 7 38525523 38525523 single base substitution C A intron_variant ESAD-UK 7 38525656 38525656 single base substitution A T intron_variant ESAD-UK 7 38525721 38525721 single base substitution G T intron_variant ESAD-UK 7 38525754 38525755 deletion of <=200bp TA - intron_variant ESAD-UK 7 38525981 38525981 single base substitution A C intron_variant ESAD-UK 7 38526000 38526000 single base substitution T G intron_variant ESAD-UK 7 38526418 38526418 single base substitution G T intron_variant ESAD-UK 7 38526790 38526790 single base substitution T C intron_variant ESAD-UK 7 38526956 38526956 single base substitution A G intron_variant ESAD-UK 7 38527138 38527138 single base substitution A G intron_variant ESAD-UK 7 38527156 38527156 single base substitution A C intron_variant ESAD-UK 7 38527159 38527159 single base substitution C T intron_variant ESAD-UK 7 38528087 38528087 single base substitution A C intron_variant ESAD-UK 7 38528271 38528271 single base substitution A C intron_variant ESAD-UK 7 38528384 38528384 single base substitution A C intron_variant ESAD-UK 7 38528561 38528561 single base substitution T G intron_variant ESAD-UK 7 38528680 38528680 single base substitution C T intron_variant ESAD-UK 7 38529508 38529508 single base substitution C T intron_variant ESAD-UK 7 38529588 38529588 single base substitution T C intron_variant ESAD-UK 7 38529657 38529657 single base substitution T G intron_variant ESAD-UK 7 38529678 38529678 single base substitution A G intron_variant ESAD-UK 7 38530044 38530044 single base substitution A G intron_variant ESAD-UK 7 38530711 38530711 single base substitution T G missense_variant K112T 335A>C ESAD-UK 7 38530934 38530934 single base substitution A C intron_variant ESAD-UK 7 38531085 38531085 single base substitution T G intron_variant ESAD-UK 7 38531113 38531113 single base substitution A C intron_variant ESAD-UK 7 38531320 38531320 single base substitution A C intron_variant ESAD-UK 7 38531324 38531324 single base substitution T C intron_variant ESAD-UK 7 38531530 38531530 single base substitution G A intron_variant ESAD-UK 7 38531941 38531941 single base substitution A G intron_variant ESAD-UK 7 38531984 38531984 single base substitution T C intron_variant ESAD-UK 7 38532032 38532032 single base substitution A C intron_variant ESAD-UK 7 38532035 38532035 single base substitution T G intron_variant ESAD-UK 7 38532036 38532036 single base substitution T G intron_variant ESAD-UK 7 38532060 38532060 single base substitution A C intron_variant ESAD-UK 7 38532980 38532980 single base substitution A C intron_variant ESAD-UK 7 38533040 38533040 single base substitution C G intron_variant ESAD-UK 7 38533127 38533127 single base substitution C T intron_variant ESAD-UK 7 38533398 38533398 single base substitution C T intron_variant ESAD-UK 7 38533407 38533407 single base substitution T G intron_variant ESAD-UK 7 38533617 38533617 single base substitution T A intron_variant ESAD-UK 7 38534173 38534173 single base substitution G A intron_variant ESAD-UK 7 38534203 38534203 single base substitution A G intron_variant ESAD-UK 7 38534389 38534389 single base substitution T A intron_variant ESAD-UK 7 38534488 38534488 single base substitution T G intron_variant ESAD-UK 7 38534518 38534518 single base substitution A C intron_variant ESAD-UK 7 38534609 38534609 single base substitution A C intron_variant ESAD-UK 7 38534816 38534816 single base substitution T G intron_variant ESAD-UK 7 38535073 38535073 single base substitution T C intron_variant ESAD-UK 7 38535073 38535073 single base substitution T G intron_variant ESAD-UK 7 38535321 38535321 single base substitution T G intron_variant ESAD-UK 7 38535576 38535576 single base substitution C A intron_variant ESAD-UK 7 38535837 38535837 single base substitution A C intron_variant ESAD-UK 7 38535923 38535923 single base substitution T C intron_variant ESAD-UK 7 38536107 38536107 single base substitution C T intron_variant ESAD-UK 7 38536344 38536344 single base substitution G A intron_variant ESAD-UK 7 38536391 38536391 single base substitution T G intron_variant ESAD-UK 7 38536420 38536420 single base substitution A C intron_variant ESAD-UK 7 38536700 38536700 single base substitution T C intron_variant ESAD-UK 7 38536850 38536850 single base substitution T A intron_variant ESAD-UK 7 38536879 38536879 single base substitution A C intron_variant ESAD-UK 7 38537077 38537077 single base substitution G T intron_variant ESAD-UK 7 38537153 38537153 single base substitution T C intron_variant ESAD-UK 7 38537168 38537168 single base substitution G C intron_variant ESAD-UK 7 38537194 38537194 single base substitution T G intron_variant ESAD-UK 7 38537743 38537743 single base substitution G T intron_variant ESAD-UK 7 38537831 38537831 single base substitution C T intron_variant ESAD-UK 7 38538056 38538056 single base substitution G A intron_variant ESAD-UK 7 38538658 38538658 single base substitution A C intron_variant ESAD-UK 7 38538841 38538841 single base substitution T G intron_variant ESAD-UK 7 38539204 38539204 single base substitution T C intron_variant ESAD-UK 7 38539233 38539233 single base substitution T G intron_variant ESAD-UK 7 38539328 38539328 single base substitution G T intron_variant ESAD-UK 7 38539874 38539874 single base substitution A C intron_variant ESAD-UK 7 38540446 38540446 single base substitution T C intron_variant ESAD-UK 7 38540446 38540446 single base substitution T G intron_variant ESAD-UK 7 38542001 38542001 single base substitution A G intron_variant ESAD-UK 7 38542741 38542741 single base substitution C A intron_variant ESAD-UK 7 38542855 38542855 single base substitution C A intron_variant ESAD-UK 7 38542940 38542940 single base substitution C A intron_variant ESAD-UK 7 38542967 38542967 single base substitution A G intron_variant ESAD-UK 7 38543384 38543384 single base substitution T G intron_variant ESAD-UK 7 38543624 38543624 single base substitution T G intron_variant ESAD-UK 7 38543713 38543713 single base substitution A C intron_variant ESAD-UK 7 38544051 38544051 single base substitution C A intron_variant ESAD-UK 7 38544054 38544054 single base substitution A C intron_variant ESAD-UK 7 38544079 38544079 single base substitution A C intron_variant ESAD-UK 7 38544338 38544338 single base substitution G C intron_variant ESAD-UK 7 38544392 38544392 single base substitution A G intron_variant ESAD-UK 7 38545100 38545100 single base substitution T C intron_variant ESAD-UK 7 38545184 38545184 single base substitution T A intron_variant ESAD-UK 7 38545184 38545184 single base substitution T G intron_variant ESAD-UK 7 38545380 38545380 single base substitution G A intron_variant ESAD-UK 7 38545547 38545547 single base substitution C T intron_variant ESAD-UK 7 38546000 38546000 single base substitution C A intron_variant ESAD-UK 7 38546026 38546026 single base substitution G A intron_variant ESAD-UK 7 38546602 38546602 single base substitution A C intron_variant ESAD-UK 7 38546612 38546612 single base substitution A C intron_variant ESAD-UK 7 38546633 38546633 single base substitution A C intron_variant ESAD-UK 7 38546984 38546984 single base substitution C A intron_variant ESAD-UK 7 38547001 38547001 single base substitution C G intron_variant ESAD-UK 7 38547159 38547159 single base substitution G A intron_variant ESAD-UK 7 38547563 38547563 single base substitution A T intron_variant ESAD-UK 7 38548051 38548051 single base substitution A T intron_variant ESAD-UK 7 38548461 38548461 single base substitution A G intron_variant ESAD-UK 7 38549277 38549277 single base substitution T C intron_variant ESAD-UK 7 38549789 38549789 single base substitution T G intron_variant ESAD-UK 7 38550180 38550180 single base substitution T C intron_variant ESAD-UK 7 38550506 38550506 single base substitution A C intron_variant ESAD-UK 7 38550557 38550557 single base substitution C T intron_variant ESAD-UK 7 38550711 38550711 single base substitution A G intron_variant ESAD-UK 7 38550868 38550868 single base substitution A C intron_variant ESAD-UK 7 38551020 38551020 single base substitution G T intron_variant ESAD-UK 7 38551075 38551075 single base substitution A C intron_variant ESAD-UK 7 38551164 38551164 single base substitution A G intron_variant ESAD-UK 7 38551164 38551164 single base substitution A T intron_variant ESAD-UK 7 38551196 38551196 single base substitution A C intron_variant ESAD-UK 7 38551242 38551242 single base substitution T A intron_variant ESAD-UK 7 38551354 38551354 single base substitution T G intron_variant ESAD-UK 7 38551408 38551408 single base substitution G T intron_variant ESAD-UK 7 38551655 38551655 single base substitution A C intron_variant ESAD-UK 7 38552155 38552155 single base substitution T A intron_variant ESAD-UK 7 38552749 38552749 single base substitution A C intron_variant ESAD-UK 7 38553001 38553001 single base substitution A C intron_variant ESAD-UK 7 38553051 38553051 single base substitution A C intron_variant ESAD-UK 7 38553573 38553573 single base substitution T A intron_variant ESAD-UK 7 38554437 38554437 single base substitution A G intron_variant ESAD-UK 7 38554708 38554708 single base substitution T C intron_variant ESAD-UK 7 38554774 38554774 single base substitution A G intron_variant ESAD-UK 7 38554943 38554943 single base substitution T C intron_variant ESAD-UK 7 38555188 38555188 single base substitution T G intron_variant ESAD-UK 7 38555324 38555324 single base substitution A C intron_variant ESAD-UK 7 38555655 38555655 single base substitution T G intron_variant ESAD-UK 7 38555671 38555671 single base substitution A C intron_variant ESAD-UK 7 38555683 38555683 single base substitution A C intron_variant ESAD-UK 7 38555684 38555684 single base substitution A C intron_variant ESAD-UK 7 38555693 38555693 single base substitution A C intron_variant ESAD-UK 7 38556039 38556039 single base substitution T A intron_variant ESAD-UK 7 38556076 38556076 single base substitution A G intron_variant ESAD-UK 7 38556551 38556551 single base substitution T G intron_variant ESAD-UK 7 38556842 38556842 single base substitution T C intron_variant ESAD-UK 7 38556958 38556958 single base substitution T A intron_variant ESAD-UK 7 38557338 38557338 single base substitution A C intron_variant ESAD-UK 7 38557520 38557520 single base substitution C A intron_variant ESAD-UK 7 38557627 38557627 single base substitution A C intron_variant ESAD-UK 7 38557744 38557744 single base substitution T C intron_variant ESAD-UK 7 38558181 38558181 single base substitution T G intron_variant ESAD-UK 7 38558383 38558383 single base substitution A G intron_variant ESAD-UK 7 38558385 38558385 single base substitution T A intron_variant ESAD-UK 7 38558390 38558390 single base substitution A G intron_variant ESAD-UK 7 38558392 38558392 single base substitution T C intron_variant ESAD-UK 7 38558684 38558684 single base substitution A C intron_variant ESAD-UK 7 38558686 38558686 single base substitution T G intron_variant ESAD-UK 7 38558760 38558760 single base substitution T C intron_variant ESAD-UK 7 38558801 38558801 single base substitution T G intron_variant ESAD-UK 7 38559242 38559242 single base substitution G T intron_variant ESAD-UK 7 38559281 38559281 single base substitution T C intron_variant ESAD-UK 7 38559557 38559557 single base substitution A C intron_variant ESAD-UK 7 38559734 38559734 single base substitution T A intron_variant ESAD-UK 7 38559775 38559775 single base substitution A C intron_variant ESAD-UK 7 38559849 38559849 single base substitution C G intron_variant ESAD-UK 7 38560062 38560062 single base substitution A T intron_variant ESAD-UK 7 38560283 38560283 single base substitution A C intron_variant ESAD-UK 7 38560308 38560308 single base substitution G A intron_variant ESAD-UK 7 38560398 38560398 single base substitution A C intron_variant ESAD-UK 7 38560523 38560523 single base substitution T G intron_variant ESAD-UK 7 38560783 38560783 single base substitution A C intron_variant ESAD-UK 7 38560888 38560888 single base substitution A C intron_variant ESAD-UK 7 38561319 38561319 single base substitution A T intron_variant ESAD-UK 7 38562151 38562151 single base substitution C G intron_variant ESAD-UK 7 38562518 38562518 single base substitution C T intron_variant ESAD-UK 7 38562571 38562571 single base substitution A G intron_variant ESAD-UK 7 38562599 38562599 single base substitution T C intron_variant ESAD-UK 7 38563136 38563136 single base substitution A C intron_variant ESAD-UK 7 38563146 38563146 single base substitution A C intron_variant ESAD-UK 7 38563276 38563276 single base substitution C T intron_variant ESAD-UK 7 38563370 38563370 single base substitution T G intron_variant ESAD-UK 7 38563481 38563481 single base substitution A C intron_variant ESAD-UK 7 38564057 38564057 single base substitution A C intron_variant ESAD-UK 7 38564606 38564606 single base substitution A T intron_variant ESAD-UK 7 38564733 38564734 deletion of <=200bp TA - intron_variant ESAD-UK 7 38564856 38564856 single base substitution G A intron_variant ESAD-UK 7 38565269 38565269 single base substitution G A intron_variant ESAD-UK 7 38565462 38565462 deletion of <=200bp G - intron_variant ESAD-UK 7 38566127 38566127 single base substitution C T intron_variant ESAD-UK 7 38566750 38566750 single base substitution T G intron_variant ESAD-UK 7 38567580 38567580 single base substitution T G intron_variant ESAD-UK 7 38567773 38567773 single base substitution A C intron_variant ESAD-UK 7 38568289 38568289 insertion of <=200bp - T intron_variant ESAD-UK 7 38568507 38568507 single base substitution T G intron_variant ESAD-UK 7 38569239 38569239 single base substitution T G intron_variant ESAD-UK 7 38569733 38569733 single base substitution T G intron_variant ESAD-UK 7 38569758 38569758 single base substitution T G intron_variant ESAD-UK 7 38569975 38569975 single base substitution A G intron_variant ESAD-UK 7 38570106 38570106 single base substitution G T intron_variant ESAD-UK 7 38570495 38570495 single base substitution T C intron_variant ESAD-UK 7 38570535 38570535 single base substitution A C intron_variant ESAD-UK 7 38570809 38570809 single base substitution T G intron_variant ESAD-UK 7 38571105 38571105 single base substitution G A intron_variant ESAD-UK 7 38571179 38571179 single base substitution A G intron_variant ESAD-UK 7 38571412 38571412 single base substitution T C intron_variant ESAD-UK 7 38571826 38571826 single base substitution G A intron_variant ESAD-UK 7 38572330 38572330 single base substitution A C intron_variant ESAD-UK 7 38572599 38572599 single base substitution T C intron_variant ESAD-UK 7 38572599 38572599 single base substitution T G intron_variant ESAD-UK 7 38573101 38573101 single base substitution C T intron_variant ESAD-UK 7 38573147 38573147 single base substitution G C intron_variant ESAD-UK 7 38573262 38573262 single base substitution T C intron_variant ESAD-UK 7 38573271 38573271 single base substitution T A intron_variant ESAD-UK 7 38573463 38573463 single base substitution C T intron_variant ESAD-UK 7 38573633 38573633 single base substitution T C intron_variant ESAD-UK 7 38573686 38573686 single base substitution C A intron_variant ESAD-UK 7 38573836 38573836 single base substitution A C intron_variant ESAD-UK 7 38574123 38574123 single base substitution A G intron_variant ESAD-UK 7 38574126 38574126 single base substitution T G intron_variant ESAD-UK 7 38574207 38574207 single base substitution T G intron_variant ESAD-UK 7 38574217 38574217 single base substitution A G intron_variant ESAD-UK 7 38574427 38574427 single base substitution A C intron_variant ESAD-UK 7 38575134 38575134 single base substitution T C intron_variant ESAD-UK 7 38575583 38575583 single base substitution C A intron_variant ESAD-UK 7 38576068 38576068 single base substitution T C intron_variant ESAD-UK 7 38576094 38576094 single base substitution C T intron_variant ESAD-UK 7 38576275 38576275 single base substitution A C intron_variant ESAD-UK 7 38576307 38576307 single base substitution A G intron_variant ESAD-UK 7 38576472 38576472 single base substitution A G intron_variant ESAD-UK 7 38576495 38576495 single base substitution T C intron_variant ESAD-UK 7 38576759 38576759 single base substitution T C intron_variant ESAD-UK 7 38577029 38577029 single base substitution C T intron_variant ESAD-UK 7 38577047 38577047 single base substitution T G intron_variant ESAD-UK 7 38577428 38577428 single base substitution A G intron_variant ESAD-UK 7 38577620 38577620 single base substitution A T intron_variant ESAD-UK 7 38577671 38577671 single base substitution A C intron_variant ESAD-UK 7 38577783 38577783 single base substitution T G intron_variant ESAD-UK 7 38577891 38577891 single base substitution A T intron_variant ESAD-UK 7 38578016 38578016 single base substitution A G intron_variant ESAD-UK 7 38578164 38578164 single base substitution A C intron_variant ESAD-UK 7 38578275 38578275 single base substitution A G intron_variant ESAD-UK 7 38578808 38578808 single base substitution A T intron_variant ESAD-UK 7 38578956 38578956 single base substitution C A intron_variant ESAD-UK 7 38579991 38579991 single base substitution A C intron_variant ESAD-UK 7 38580494 38580494 single base substitution A C intron_variant ESAD-UK 7 38580497 38580497 single base substitution T G intron_variant ESAD-UK 7 38580538 38580538 single base substitution A G intron_variant ESAD-UK 7 38581840 38581840 single base substitution A C intron_variant ESAD-UK 7 38582349 38582349 single base substitution A T intron_variant ESAD-UK 7 38582355 38582355 single base substitution A T intron_variant ESAD-UK 7 38582428 38582428 single base substitution G T intron_variant ESAD-UK 7 38582443 38582443 insertion of <=200bp - C intron_variant ESAD-UK 7 38582527 38582527 single base substitution C A intron_variant ESAD-UK 7 38582882 38582882 single base substitution T C intron_variant ESAD-UK 7 38583749 38583749 single base substitution T C intron_variant ESAD-UK 7 38583913 38583913 single base substitution A C intron_variant ESAD-UK 7 38584021 38584021 single base substitution C T intron_variant ESAD-UK 7 38584712 38584712 single base substitution G T intron_variant ESAD-UK 7 38584737 38584737 single base substitution A C intron_variant ESAD-UK 7 38584751 38584751 single base substitution G T intron_variant ESAD-UK 7 38584792 38584792 single base substitution T C intron_variant ESAD-UK 7 38584953 38584953 single base substitution A G intron_variant ESAD-UK 7 38584962 38584962 single base substitution T G intron_variant ESAD-UK 7 38585167 38585167 single base substitution T C intron_variant ESAD-UK 7 38585319 38585319 single base substitution C G intron_variant ESAD-UK 7 38585438 38585438 single base substitution C T intron_variant ESAD-UK 7 38585461 38585461 single base substitution C T intron_variant ESAD-UK 7 38585522 38585522 single base substitution A C intron_variant ESAD-UK 7 38586520 38586520 single base substitution A C intron_variant ESAD-UK 7 38586604 38586604 single base substitution C T intron_variant ESAD-UK 7 38587026 38587026 single base substitution A C intron_variant ESAD-UK 7 38587107 38587107 single base substitution A C intron_variant ESAD-UK 7 38587491 38587491 single base substitution T G intron_variant ESAD-UK 7 38587984 38587984 single base substitution G T intron_variant ESAD-UK 7 38588014 38588014 single base substitution A C intron_variant ESAD-UK 7 38588658 38588658 single base substitution T G intron_variant ESAD-UK 7 38588946 38588946 single base substitution A C intron_variant ESAD-UK 7 38589355 38589355 single base substitution A G intron_variant ESAD-UK 7 38589415 38589415 single base substitution A T intron_variant ESAD-UK 7 38589797 38589797 single base substitution A C intron_variant ESAD-UK 7 38590342 38590342 single base substitution G A intron_variant ESAD-UK 7 38590520 38590520 single base substitution A C intron_variant ESAD-UK 7 38590828 38590828 single base substitution T G intron_variant ESAD-UK 7 38591413 38591413 single base substitution C A intron_variant ESAD-UK 7 38591545 38591545 single base substitution A G intron_variant ESAD-UK 7 38591872 38591872 single base substitution T G intron_variant ESAD-UK 7 38591923 38591923 single base substitution T C intron_variant ESAD-UK 7 38592605 38592605 single base substitution T G intron_variant ESAD-UK 7 38593091 38593091 single base substitution A C intron_variant ESAD-UK 7 38593338 38593338 single base substitution T C intron_variant ESAD-UK 7 38593375 38593375 single base substitution G T intron_variant ESAD-UK 7 38593480 38593480 single base substitution C A intron_variant ESAD-UK 7 38594085 38594085 single base substitution G C intron_variant ESAD-UK 7 38594448 38594448 single base substitution A C intron_variant ESAD-UK 7 38594732 38594732 single base substitution C G intron_variant ESAD-UK 7 38594775 38594775 single base substitution G T intron_variant ESAD-UK 7 38594847 38594847 deletion of <=200bp T - intron_variant ESAD-UK 7 38594982 38594982 single base substitution G A intron_variant ESAD-UK 7 38595369 38595369 single base substitution T G intron_variant ESAD-UK 7 38595435 38595435 single base substitution C A intron_variant ESAD-UK 7 38595451 38595451 single base substitution A C intron_variant ESAD-UK 7 38595472 38595472 single base substitution A G intron_variant ESAD-UK 7 38596274 38596274 single base substitution T G intron_variant ESAD-UK 7 38596350 38596350 single base substitution A G intron_variant ESAD-UK 7 38596834 38596834 single base substitution A C intron_variant ESAD-UK 7 38596898 38596898 single base substitution T C intron_variant ESAD-UK 7 38597094 38597094 single base substitution T G intron_variant ESAD-UK 7 38597155 38597155 single base substitution A C intron_variant ESAD-UK 7 38597244 38597244 single base substitution T G intron_variant ESAD-UK 7 38597806 38597806 single base substitution A C intron_variant ESAD-UK 7 38598402 38598402 single base substitution A C intron_variant ESAD-UK 7 38598747 38598747 single base substitution T A intron_variant ESAD-UK 7 38599008 38599008 single base substitution A G intron_variant ESAD-UK 7 38599189 38599189 single base substitution T G intron_variant ESAD-UK 7 38599471 38599471 single base substitution C T intron_variant ESAD-UK 7 38599567 38599567 single base substitution G T intron_variant ESAD-UK 7 38599739 38599739 single base substitution T A intron_variant ESAD-UK 7 38599864 38599864 single base substitution A G intron_variant ESAD-UK 7 38599927 38599927 single base substitution G T intron_variant ESAD-UK 7 38600078 38600078 single base substitution A C intron_variant ESAD-UK 7 38600761 38600761 single base substitution T G intron_variant ESAD-UK 7 38601074 38601074 single base substitution C A intron_variant ESAD-UK 7 38601075 38601075 single base substitution A G intron_variant ESAD-UK 7 38601315 38601315 single base substitution G T intron_variant ESAD-UK 7 38601404 38601404 single base substitution C T intron_variant ESAD-UK 7 38601632 38601632 single base substitution G A intron_variant ESAD-UK 7 38601699 38601699 single base substitution A G intron_variant ESAD-UK 7 38602144 38602144 single base substitution A C intron_variant ESAD-UK 7 38602159 38602159 single base substitution A G intron_variant ESAD-UK 7 38603086 38603086 single base substitution A C intron_variant ESAD-UK 7 38603700 38603700 single base substitution T C intron_variant ESAD-UK 7 38603790 38603790 single base substitution A G intron_variant ESAD-UK 7 38603888 38603888 single base substitution C T intron_variant ESAD-UK 7 38604878 38604878 single base substitution T A intron_variant ESAD-UK 7 38604878 38604878 single base substitution T G intron_variant ESAD-UK 7 38604886 38604886 single base substitution A T intron_variant ESAD-UK 7 38605526 38605526 single base substitution G T intron_variant ESAD-UK 7 38605683 38605683 single base substitution C T intron_variant ESAD-UK 7 38605822 38605822 single base substitution A G intron_variant ESAD-UK 7 38605972 38605972 single base substitution A T intron_variant ESAD-UK 7 38605973 38605973 single base substitution G C intron_variant ESAD-UK 7 38607400 38607400 single base substitution T G intron_variant ESAD-UK 7 38607785 38607785 single base substitution T G intron_variant ESAD-UK 7 38607832 38607832 single base substitution G T intron_variant ESAD-UK 7 38607862 38607862 single base substitution G A intron_variant ESAD-UK 7 38608236 38608236 single base substitution G T intron_variant ESAD-UK 7 38608349 38608349 single base substitution G A intron_variant ESAD-UK 7 38608352 38608352 single base substitution T G intron_variant ESAD-UK 7 38608724 38608724 single base substitution A G intron_variant ESAD-UK 7 38608849 38608849 single base substitution T G intron_variant ESAD-UK 7 38609141 38609141 single base substitution G T intron_variant ESAD-UK 7 38609205 38609206 deletion of <=200bp AT - intron_variant ESAD-UK 7 38609388 38609388 single base substitution A G intron_variant ESAD-UK 7 38609601 38609601 single base substitution C A intron_variant ESAD-UK 7 38609677 38609677 single base substitution T G intron_variant ESAD-UK 7 38610412 38610412 single base substitution C G intron_variant ESAD-UK 7 38612254 38612254 single base substitution A T intron_variant ESAD-UK 7 38612499 38612499 single base substitution A C intron_variant ESAD-UK 7 38612560 38612560 single base substitution G A intron_variant ESAD-UK 7 38612877 38612877 single base substitution T G intron_variant ESAD-UK 7 38613581 38613581 single base substitution A C intron_variant ESAD-UK 7 38613592 38613592 single base substitution T G intron_variant ESAD-UK 7 38613661 38613661 single base substitution A C intron_variant ESAD-UK 7 38613692 38613692 single base substitution A C intron_variant ESAD-UK 7 38613912 38613912 single base substitution A C intron_variant ESAD-UK 7 38614713 38614713 single base substitution A T intron_variant ESAD-UK 7 38614917 38614917 single base substitution G T intron_variant ESAD-UK 7 38615292 38615292 single base substitution A G intron_variant ESAD-UK 7 38615513 38615513 single base substitution A C intron_variant ESAD-UK 7 38615792 38615792 single base substitution C T intron_variant ESAD-UK 7 38616536 38616536 single base substitution A G intron_variant ESAD-UK 7 38616653 38616653 single base substitution C T intron_variant ESAD-UK 7 38617069 38617069 single base substitution G A intron_variant ESAD-UK 7 38617267 38617267 single base substitution G T intron_variant ESAD-UK 7 38617704 38617704 single base substitution C G intron_variant ESAD-UK 7 38617904 38617904 single base substitution T G intron_variant ESAD-UK 7 38618008 38618008 single base substitution T A intron_variant ESAD-UK 7 38618141 38618141 single base substitution T G intron_variant ESAD-UK 7 38618260 38618260 single base substitution T C intron_variant ESAD-UK 7 38618473 38618473 single base substitution A C intron_variant ESAD-UK 7 38618504 38618504 single base substitution A C intron_variant ESAD-UK 7 38618630 38618630 single base substitution T C intron_variant ESAD-UK 7 38618845 38618845 single base substitution C G intron_variant ESAD-UK 7 38619480 38619480 single base substitution A T intron_variant ESAD-UK 7 38619481 38619481 single base substitution A G intron_variant ESAD-UK 7 38619483 38619483 single base substitution A G intron_variant ESAD-UK 7 38619500 38619500 single base substitution A C intron_variant ESAD-UK 7 38619907 38619907 single base substitution A G intron_variant ESAD-UK 7 38620135 38620135 single base substitution A G intron_variant ESAD-UK 7 38620208 38620208 single base substitution A T intron_variant ESAD-UK 7 38620373 38620373 single base substitution T G intron_variant ESAD-UK 7 38620401 38620401 single base substitution C G intron_variant ESAD-UK 7 38620414 38620414 single base substitution T G intron_variant ESAD-UK 7 38620759 38620759 single base substitution G T intron_variant ESAD-UK 7 38620846 38620846 single base substitution G T intron_variant ESAD-UK 7 38620854 38620854 single base substitution A T intron_variant ESAD-UK 7 38621212 38621212 single base substitution G C intron_variant ESAD-UK 7 38621232 38621232 single base substitution A C intron_variant ESAD-UK 7 38621272 38621272 single base substitution A C intron_variant ESAD-UK 7 38621540 38621540 single base substitution G A intron_variant ESAD-UK 7 38621591 38621591 single base substitution T A intron_variant ESAD-UK 7 38621741 38621741 single base substitution C T intron_variant ESAD-UK 7 38622089 38622089 insertion of <=200bp - TCTTTCATA intron_variant ESAD-UK 7 38622098 38622098 single base substitution A T intron_variant ESAD-UK 7 38622147 38622147 single base substitution T A intron_variant ESAD-UK 7 38622205 38622205 single base substitution C A intron_variant ESAD-UK 7 38622297 38622297 single base substitution A C intron_variant ESAD-UK 7 38622833 38622833 single base substitution G T intron_variant ESAD-UK 7 38622868 38622868 single base substitution T C intron_variant ESAD-UK 7 38622918 38622918 single base substitution A C intron_variant ESAD-UK 7 38622989 38622992 deletion of <=200bp AATA - intron_variant ESAD-UK 7 38623002 38623002 deletion of <=200bp T - intron_variant ESAD-UK 7 38623356 38623356 single base substitution A C intron_variant ESAD-UK 7 38623483 38623483 single base substitution C T intron_variant ESAD-UK 7 38623584 38623584 single base substitution T G intron_variant ESAD-UK 7 38623677 38623677 single base substitution T A intron_variant ESAD-UK 7 38623678 38623678 single base substitution A T intron_variant ESAD-UK 7 38623804 38623804 single base substitution C A intron_variant ESAD-UK 7 38624457 38624457 single base substitution G A intron_variant ESAD-UK 7 38624519 38624519 single base substitution T C intron_variant ESAD-UK 7 38625077 38625077 single base substitution G A intron_variant ESAD-UK 7 38625125 38625125 single base substitution A G intron_variant ESAD-UK 7 38625177 38625177 single base substitution A C intron_variant ESAD-UK 7 38625248 38625248 single base substitution A C intron_variant ESAD-UK 7 38625251 38625251 single base substitution T G intron_variant ESAD-UK 7 38625434 38625434 single base substitution T C intron_variant ESAD-UK 7 38625530 38625530 single base substitution T A intron_variant ESAD-UK 7 38625633 38625633 single base substitution C A intron_variant ESAD-UK 7 38625789 38625789 single base substitution G T intron_variant ESAD-UK 7 38625801 38625801 single base substitution C G intron_variant ESAD-UK 7 38626117 38626117 single base substitution C T intron_variant ESAD-UK 7 38626539 38626539 single base substitution A G intron_variant ESAD-UK 7 38626591 38626591 insertion of <=200bp - A intron_variant ESAD-UK 7 38627069 38627069 single base substitution T G intron_variant ESAD-UK 7 38627475 38627475 single base substitution C A intron_variant ESAD-UK 7 38627740 38627740 single base substitution G T intron_variant ESAD-UK 7 38628617 38628617 single base substitution T A intron_variant ESAD-UK 7 38628750 38628750 single base substitution C A intron_variant ESAD-UK 7 38628985 38628985 single base substitution A G intron_variant ESAD-UK 7 38629854 38629854 single base substitution T C intron_variant ESAD-UK 7 38629976 38629976 single base substitution C T intron_variant ESAD-UK 7 38630117 38630117 single base substitution G A intron_variant ESAD-UK 7 38630253 38630253 single base substitution C T intron_variant ESAD-UK 7 38630389 38630389 single base substitution A C intron_variant ESAD-UK 7 38630482 38630482 single base substitution A C intron_variant ESAD-UK 7 38630623 38630623 single base substitution A G intron_variant ESAD-UK 7 38630670 38630670 single base substitution C A intron_variant ESAD-UK 7 38630970 38630970 single base substitution C A intron_variant ESAD-UK 7 38631137 38631137 single base substitution T G intron_variant ESAD-UK 7 38631605 38631605 single base substitution T A intron_variant ESAD-UK 7 38631666 38631666 single base substitution A C intron_variant ESAD-UK 7 38631858 38631858 single base substitution T C intron_variant ESAD-UK 7 38631937 38631937 single base substitution A C intron_variant ESAD-UK 7 38632030 38632030 single base substitution C T intron_variant ESAD-UK 7 38632248 38632248 single base substitution T C intron_variant ESAD-UK 7 38633016 38633016 single base substitution C A intron_variant ESAD-UK 7 38633017 38633017 single base substitution G A intron_variant ESAD-UK 7 38633118 38633118 single base substitution C T intron_variant ESAD-UK 7 38633249 38633249 single base substitution T C intron_variant ESAD-UK 7 38633449 38633449 single base substitution A C intron_variant ESAD-UK 7 38633653 38633653 single base substitution T G intron_variant ESAD-UK 7 38633713 38633713 single base substitution A G intron_variant ESAD-UK 7 38634270 38634270 single base substitution T G intron_variant ESAD-UK 7 38634329 38634329 single base substitution G A intron_variant ESAD-UK 7 38634500 38634500 single base substitution G A intron_variant ESAD-UK 7 38634539 38634539 insertion of <=200bp - G intron_variant ESAD-UK 7 38635853 38635853 single base substitution A G intron_variant ESAD-UK 7 38635860 38635860 single base substitution A G intron_variant ESAD-UK 7 38636022 38636022 single base substitution A C intron_variant ESAD-UK 7 38636022 38636022 single base substitution A G intron_variant ESAD-UK 7 38636044 38636044 single base substitution A C intron_variant ESAD-UK 7 38636338 38636338 single base substitution G T intron_variant ESAD-UK 7 38636345 38636345 single base substitution C T intron_variant ESAD-UK 7 38636360 38636360 single base substitution T C intron_variant ESAD-UK 7 38636366 38636366 single base substitution A C intron_variant ESAD-UK 7 38636529 38636529 single base substitution T G intron_variant ESAD-UK 7 38636537 38636537 single base substitution G C intron_variant ESAD-UK 7 38636832 38636832 single base substitution T C intron_variant ESAD-UK 7 38636832 38636832 single base substitution T G intron_variant ESAD-UK 7 38636889 38636889 single base substitution A C intron_variant ESAD-UK 7 38637219 38637219 single base substitution A C intron_variant ESAD-UK 7 38637240 38637240 single base substitution A C intron_variant ESAD-UK 7 38637332 38637332 single base substitution C A intron_variant ESAD-UK 7 38638154 38638154 single base substitution G A intron_variant ESAD-UK 7 38638565 38638565 single base substitution C A intron_variant ESAD-UK 7 38639018 38639018 single base substitution T C intron_variant ESAD-UK 7 38639027 38639027 single base substitution C T intron_variant ESAD-UK 7 38639318 38639318 single base substitution T C intron_variant ESAD-UK 7 38639376 38639376 single base substitution T A intron_variant ESAD-UK 7 38639468 38639468 single base substitution A C intron_variant ESAD-UK 7 38639485 38639485 single base substitution C A intron_variant ESAD-UK 7 38639550 38639550 single base substitution G A intron_variant ESAD-UK 7 38640683 38640683 single base substitution C A intron_variant ESAD-UK 7 38641161 38641161 single base substitution A T intron_variant ESAD-UK 7 38641257 38641257 single base substitution A G intron_variant ESAD-UK 7 38641404 38641404 single base substitution G T intron_variant ESAD-UK 7 38642583 38642583 single base substitution G T intron_variant ESAD-UK 7 38643164 38643164 single base substitution A C intron_variant ESAD-UK 7 38643192 38643192 single base substitution C G intron_variant ESAD-UK 7 38644107 38644107 single base substitution A G intron_variant ESAD-UK 7 38644667 38644667 single base substitution T G intron_variant ESAD-UK 7 38644918 38644918 single base substitution A C intron_variant ESAD-UK 7 38645025 38645025 single base substitution T G intron_variant ESAD-UK 7 38645154 38645154 deletion of <=200bp T - intron_variant ESAD-UK 7 38645489 38645489 single base substitution T G intron_variant ESAD-UK 7 38645572 38645572 single base substitution T G intron_variant ESAD-UK 7 38646248 38646248 single base substitution T C intron_variant ESAD-UK 7 38646354 38646354 single base substitution T C intron_variant ESAD-UK 7 38646394 38646394 single base substitution T C intron_variant ESAD-UK 7 38646816 38646816 single base substitution C T intron_variant ESAD-UK 7 38646871 38646871 single base substitution C A intron_variant ESAD-UK 7 38646903 38646903 single base substitution A C intron_variant ESAD-UK 7 38647321 38647321 single base substitution A C intron_variant ESAD-UK 7 38648040 38648040 single base substitution T G intron_variant ESAD-UK 7 38648162 38648162 single base substitution T G intron_variant ESAD-UK 7 38648583 38648583 single base substitution T C intron_variant ESAD-UK 7 38648986 38648986 single base substitution T C intron_variant ESAD-UK 7 38649018 38649018 single base substitution T C intron_variant ESAD-UK 7 38649018 38649018 single base substitution T G intron_variant ESAD-UK 7 38649490 38649490 single base substitution T C intron_variant ESAD-UK 7 38650281 38650281 single base substitution T C intron_variant ESAD-UK 7 38650458 38650458 single base substitution G T intron_variant ESAD-UK 7 38651351 38651351 single base substitution C A intron_variant ESAD-UK 7 38651911 38651911 single base substitution G T intron_variant ESAD-UK 7 38652006 38652006 single base substitution A G intron_variant ESAD-UK 7 38652101 38652101 single base substitution T C intron_variant ESAD-UK 7 38652101 38652101 single base substitution T G intron_variant ESAD-UK 7 38652821 38652821 single base substitution A T intron_variant ESAD-UK 7 38652831 38652831 single base substitution A C intron_variant ESAD-UK 7 38652846 38652846 single base substitution G C intron_variant ESAD-UK 7 38653161 38653161 single base substitution C T intron_variant ESAD-UK 7 38653916 38653916 single base substitution A T intron_variant ESAD-UK 7 38654006 38654006 single base substitution A C intron_variant ESAD-UK 7 38654038 38654038 single base substitution T G intron_variant ESAD-UK 7 38654294 38654294 single base substitution T C intron_variant ESAD-UK 7 38654552 38654552 single base substitution A C intron_variant ESAD-UK 7 38654807 38654807 single base substitution G T intron_variant ESAD-UK 7 38655270 38655270 deletion of <=200bp A - intron_variant ESAD-UK 7 38655315 38655315 single base substitution T A intron_variant ESAD-UK 7 38655609 38655609 single base substitution A C intron_variant ESAD-UK 7 38656331 38656331 single base substitution A T intron_variant ESAD-UK 7 38656385 38656385 single base substitution A T intron_variant ESAD-UK 7 38657089 38657089 single base substitution G A intron_variant ESAD-UK 7 38657336 38657336 single base substitution A C intron_variant ESAD-UK 7 38657602 38657602 single base substitution A G intron_variant ESAD-UK 7 38657972 38657972 single base substitution C T intron_variant ESAD-UK 7 38658338 38658338 single base substitution C A intron_variant ESAD-UK 7 38658519 38658519 single base substitution A C intron_variant ESAD-UK 7 38658551 38658551 single base substitution A C intron_variant ESAD-UK 7 38658591 38658591 single base substitution G T intron_variant ESAD-UK 7 38658679 38658679 single base substitution C A intron_variant ESAD-UK 7 38658695 38658695 single base substitution G A intron_variant ESAD-UK 7 38659091 38659091 single base substitution T A intron_variant ESAD-UK 7 38659232 38659232 single base substitution A C intron_variant ESAD-UK 7 38659528 38659528 single base substitution A G intron_variant ESAD-UK 7 38659854 38659854 single base substitution G A intron_variant ESAD-UK 7 38660304 38660304 insertion of <=200bp - T intron_variant ESAD-UK 7 38660320 38660320 single base substitution G C intron_variant ESAD-UK 7 38660632 38660632 single base substitution A G intron_variant ESAD-UK 7 38661252 38661252 single base substitution T C intron_variant ESAD-UK 7 38662574 38662574 single base substitution A T intron_variant ESAD-UK 7 38662578 38662578 single base substitution C T intron_variant ESAD-UK 7 38662883 38662883 single base substitution A T intron_variant ESAD-UK 7 38663015 38663015 single base substitution A C intron_variant ESAD-UK 7 38663112 38663112 single base substitution A C intron_variant ESAD-UK 7 38663207 38663207 single base substitution T A intron_variant ESAD-UK 7 38663388 38663388 single base substitution A C intron_variant ESAD-UK 7 38663559 38663559 single base substitution C T intron_variant ESAD-UK 7 38663777 38663777 single base substitution C T intron_variant ESAD-UK 7 38664559 38664559 single base substitution G T intron_variant ESAD-UK 7 38664821 38664821 single base substitution T G intron_variant ESAD-UK 7 38664828 38664828 single base substitution A G intron_variant ESAD-UK 7 38664869 38664869 single base substitution C T intron_variant ESAD-UK 7 38664901 38664901 single base substitution G C intron_variant ESAD-UK 7 38665262 38665262 single base substitution T A intron_variant ESAD-UK 7 38665677 38665677 single base substitution G T intron_variant ESAD-UK 7 38665978 38665978 single base substitution A G intron_variant ESAD-UK 7 38666296 38666296 single base substitution G T intron_variant ESAD-UK 7 38666320 38666320 single base substitution C T intron_variant ESAD-UK 7 38666589 38666589 single base substitution C T intron_variant ESAD-UK 7 38666682 38666682 single base substitution T G intron_variant ESAD-UK 7 38666841 38666841 single base substitution T G intron_variant ESAD-UK 7 38667113 38667113 single base substitution A G intron_variant ESAD-UK 7 38667366 38667366 single base substitution T G intron_variant ESAD-UK 7 38667468 38667468 single base substitution T A intron_variant ESAD-UK 7 38667611 38667611 single base substitution C T intron_variant ESAD-UK 7 38668407 38668407 single base substitution G T intron_variant ESAD-UK 7 38668573 38668573 single base substitution A G intron_variant ESAD-UK 7 38668593 38668593 single base substitution T C intron_variant ESAD-UK 7 38668623 38668623 single base substitution A C intron_variant ESAD-UK 7 38668748 38668748 single base substitution T G intron_variant ESAD-UK 7 38669458 38669458 single base substitution G A intron_variant ESAD-UK 7 38669790 38669790 single base substitution G A intron_variant ESAD-UK 7 38670092 38670092 single base substitution A T intron_variant ESAD-UK 7 38670751 38670751 single base substitution G A intron_variant ESAD-UK 7 38670778 38670778 single base substitution C T intron_variant ESAD-UK 7 38670924 38670924 single base substitution C T missense_variant A10T 28G>A ESAD-UK 7 38670948 38670948 single base substitution C G missense_variant A2P 4G>C ESAD-UK 7 38671117 38671117 single base substitution C T 5_prime_UTR_variant ESAD-UK 7 38671117 38671117 single base substitution C T upstream_gene_variant ESAD-UK 7 38671158 38671158 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 7 38671158 38671158 single base substitution G A upstream_gene_variant ESAD-UK 7 38671501 38671501 single base substitution A C upstream_gene_variant ESAD-UK 7 38671545 38671545 single base substitution A G upstream_gene_variant ESAD-UK 7 38671588 38671589 deletion of <=200bp CC - upstream_gene_variant ESAD-UK 7 38672355 38672355 single base substitution A G upstream_gene_variant ESAD-UK 7 38672357 38672357 single base substitution T A upstream_gene_variant ESAD-UK 7 38673064 38673064 single base substitution T G upstream_gene_variant ESAD-UK 7 38673252 38673252 single base substitution C T upstream_gene_variant ESAD-UK 7 38673352 38673352 single base substitution G A upstream_gene_variant ESAD-UK 7 38673377 38673377 single base substitution C T upstream_gene_variant ESAD-UK 7 38673416 38673416 deletion of <=200bp A - upstream_gene_variant ESAD-UK 7 38673965 38673965 single base substitution C T upstream_gene_variant ESAD-UK 7 38674211 38674211 single base substitution A G upstream_gene_variant ESAD-UK 7 38675143 38675143 single base substitution T G upstream_gene_variant ESAD-UK 7 38675521 38675521 single base substitution A C upstream_gene_variant ESAD-UK 7 38675529 38675529 single base substitution A C upstream_gene_variant ESAD-UK 7 38675736 38675736 single base substitution G A upstream_gene_variant ESAD-UK 7 38675889 38675889 single base substitution T C upstream_gene_variant ESAD-UK 7 38676025 38676025 single base substitution A C upstream_gene_variant ESCA-CN 7 38424445 38424445 single base substitution C G missense_variant E570Q 1708G>C ESCA-CN 7 38424445 38424445 single base substitution C G missense_variant E646Q 1936G>C ESCA-CN 7 38424445 38424445 single base substitution C G missense_variant E688Q 2062G>C ESCA-CN 7 38424522 38424522 single base substitution G T downstream_gene_variant ESCA-CN 7 38424522 38424522 single base substitution G T missense_variant A544E 1631C>A ESCA-CN 7 38424522 38424522 single base substitution G T missense_variant A620E 1859C>A ESCA-CN 7 38424522 38424522 single base substitution G T missense_variant A662E 1985C>A ESCA-CN 7 38462183 38462183 single base substitution T C intron_variant ESCA-CN 7 38462183 38462183 single base substitution T C upstream_gene_variant ESCA-CN 7 38466661 38466661 single base substitution A G intron_variant ESCA-CN 7 38502697 38502697 single base substitution G A missense_variant R256C 766C>T ESCA-CN 7 38502697 38502697 single base substitution G A missense_variant R6C 16C>T GBM-US 7 38471801 38471801 single base substitution C T stop_gained W132* 396G>A GBM-US 7 38471801 38471801 single base substitution C T stop_gained W382* 1146G>A GBM-US 7 38471801 38471801 single base substitution C T upstream_gene_variant GBM-US 7 38516553 38516553 single base substitution C T missense_variant R138H 413G>A GBM-US 7 38516566 38516566 single base substitution G A missense_variant R134C 400C>T GBM-US 7 38530706 38530706 single base substitution C T missense_variant V114M 340G>A KIRC-US 7 38429478 38429478 single base substitution G A downstream_gene_variant KIRC-US 7 38429478 38429478 single base substitution G A exon_variant KIRC-US 7 38429478 38429478 single base substitution G A missense_variant A518V 1553C>T KIRC-US 7 38429478 38429478 single base substitution G A missense_variant A594V 1781C>T KIRC-US 7 38429478 38429478 single base substitution G A missense_variant A636V 1907C>T KIRC-US 7 38431539 38431539 single base substitution G A downstream_gene_variant KIRC-US 7 38431539 38431539 single base substitution G A exon_variant KIRC-US 7 38431539 38431539 single base substitution G A missense_variant A445V 1334C>T KIRC-US 7 38431539 38431539 single base substitution G A missense_variant A521V 1562C>T KIRC-US 7 38431539 38431539 single base substitution G A missense_variant A563V 1688C>T KIRC-US 7 38530710 38530710 single base substitution T A missense_variant K112N 336A>T KIRP-US 7 38431574 38431574 deletion of <=200bp A - downstream_gene_variant KIRP-US 7 38431574 38431574 deletion of <=200bp A - exon_variant KIRP-US 7 38431574 38431574 deletion of <=200bp A - frameshift_variant H433 KIRP-US 7 38431574 38431574 deletion of <=200bp A - frameshift_variant H509 KIRP-US 7 38431574 38431574 deletion of <=200bp A - frameshift_variant H551 LAML-KR 7 38457271 38457271 single base substitution A G intron_variant LAML-KR 7 38457688 38457688 single base substitution C A intron_variant LAML-KR 7 38457688 38457688 single base substitution C A upstream_gene_variant LAML-KR 7 38462187 38462187 single base substitution T C intron_variant LAML-KR 7 38462187 38462187 single base substitution T C upstream_gene_variant LAML-KR 7 38462191 38462191 single base substitution T C intron_variant LAML-KR 7 38462191 38462191 single base substitution T C upstream_gene_variant LAML-KR 7 38462203 38462203 single base substitution C T intron_variant LAML-KR 7 38462203 38462203 single base substitution C T upstream_gene_variant LAML-KR 7 38500782 38500782 single base substitution G A intron_variant LAML-KR 7 38505712 38505712 single base substitution T G intron_variant LAML-KR 7 38505712 38505712 single base substitution T G upstream_gene_variant LAML-KR 7 38514868 38514868 single base substitution G A intron_variant LAML-KR 7 38530568 38530568 single base substitution G T intron_variant LAML-KR 7 38574428 38574428 single base substitution C G intron_variant LAML-KR 7 38671101 38671101 single base substitution T G 5_prime_UTR_variant LAML-KR 7 38671101 38671101 single base substitution T G upstream_gene_variant LICA-CN 7 38530717 38530717 single base substitution T A missense_variant H110L 329A>T LICA-CN 7 38574584 38574584 single base substitution C T missense_variant E33K 97G>A LICA-FR 7 38418424 38418426 deletion of <=200bp TTT - downstream_gene_variant LICA-FR 7 38424437 38424437 single base substitution G T missense_variant F572L 1716C>A LICA-FR 7 38424437 38424437 single base substitution G T missense_variant F648L 1944C>A LICA-FR 7 38424437 38424437 single base substitution G T missense_variant F690L 2070C>A LICA-FR 7 38430090 38430090 single base substitution G A downstream_gene_variant LICA-FR 7 38430090 38430090 single base substitution G A intron_variant LICA-FR 7 38430408 38430408 single base substitution C T downstream_gene_variant LICA-FR 7 38430408 38430408 single base substitution C T intron_variant LICA-FR 7 38435370 38435370 single base substitution C A intron_variant LICA-FR 7 38435370 38435370 single base substitution C A upstream_gene_variant LICA-FR 7 38440095 38440095 single base substitution T A intron_variant LICA-FR 7 38446648 38446648 single base substitution C A intron_variant LICA-FR 7 38458279 38458279 single base substitution C A intron_variant LICA-FR 7 38458279 38458279 single base substitution C A upstream_gene_variant LICA-FR 7 38474488 38474488 single base substitution G A intron_variant LICA-FR 7 38474488 38474488 single base substitution G A upstream_gene_variant LICA-FR 7 38486427 38486427 single base substitution C T intron_variant LICA-FR 7 38488906 38488906 single base substitution A G intron_variant LICA-FR 7 38498417 38498417 single base substitution A G intron_variant LICA-FR 7 38504420 38504420 single base substitution C T intron_variant LICA-FR 7 38504420 38504420 single base substitution C T upstream_gene_variant LICA-FR 7 38519929 38519929 single base substitution C A intron_variant LICA-FR 7 38527282 38527282 single base substitution T A intron_variant LICA-FR 7 38527647 38527647 single base substitution G C intron_variant LICA-FR 7 38537257 38537257 single base substitution T C intron_variant LICA-FR 7 38546330 38546330 single base substitution G C intron_variant LICA-FR 7 38553411 38553411 single base substitution C T intron_variant LICA-FR 7 38553785 38553785 single base substitution G T intron_variant LICA-FR 7 38557640 38557640 single base substitution G T intron_variant LICA-FR 7 38558897 38558897 single base substitution G C intron_variant LICA-FR 7 38560756 38560756 single base substitution A G intron_variant LICA-FR 7 38568612 38568612 single base substitution A C intron_variant LICA-FR 7 38585791 38585791 single base substitution C A intron_variant LICA-FR 7 38594850 38594851 deletion of <=200bp AA - intron_variant LICA-FR 7 38595753 38595753 single base substitution A G intron_variant LICA-FR 7 38601525 38601525 insertion of <=200bp - AAA intron_variant LICA-FR 7 38604012 38604012 single base substitution T A intron_variant LICA-FR 7 38614652 38614653 deletion of <=200bp AA - intron_variant LICA-FR 7 38622698 38622698 single base substitution G A intron_variant LICA-FR 7 38628260 38628260 single base substitution C T intron_variant LICA-FR 7 38631541 38631541 single base substitution T A intron_variant LICA-FR 7 38639240 38639240 single base substitution C T intron_variant LICA-FR 7 38641869 38641869 single base substitution A T intron_variant LICA-FR 7 38641870 38641870 single base substitution G T intron_variant LICA-FR 7 38644051 38644051 single base substitution A G intron_variant LICA-FR 7 38656478 38656478 single base substitution T C intron_variant LICA-FR 7 38659964 38659964 single base substitution C G intron_variant LICA-FR 7 38660309 38660309 single base substitution T A intron_variant LIHC-US 7 38457451 38457451 single base substitution C A exon_variant LIHC-US 7 38457451 38457451 single base substitution C A intron_variant LIHC-US 7 38457451 38457451 single base substitution C A missense_variant A458S 1372G>T LIHC-US 7 38457550 38457550 single base substitution C A exon_variant LIHC-US 7 38457550 38457550 single base substitution C A intron_variant LIHC-US 7 38457550 38457550 single base substitution C A missense_variant A425S 1273G>T LIHC-US 7 38457550 38457550 single base substitution C A splice_region_variant LIHC-US 7 38500915 38500915 single base substitution C A missense_variant V329F 985G>T LIHC-US 7 38500915 38500915 single base substitution C A missense_variant V79F 235G>T LIHC-US 7 38670937 38670937 single base substitution C A missense_variant K5N 15G>T LINC-JP 7 38419430 38419430 single base substitution A T downstream_gene_variant LINC-JP 7 38421890 38421890 single base substitution A G downstream_gene_variant LINC-JP 7 38427161 38427161 single base substitution G T downstream_gene_variant LINC-JP 7 38427161 38427161 single base substitution G T intron_variant LINC-JP 7 38430306 38430306 single base substitution C A downstream_gene_variant LINC-JP 7 38430306 38430306 single base substitution C A intron_variant LINC-JP 7 38431352 38431352 single base substitution G T downstream_gene_variant LINC-JP 7 38431352 38431352 single base substitution G T exon_variant LINC-JP 7 38431352 38431352 single base substitution G T stop_gained Y507* 1521C>A LINC-JP 7 38431352 38431352 single base substitution G T stop_gained Y583* 1749C>A LINC-JP 7 38431352 38431352 single base substitution G T stop_gained Y625* 1875C>A LINC-JP 7 38431556 38431556 single base substitution G A downstream_gene_variant LINC-JP 7 38431556 38431556 single base substitution G A exon_variant LINC-JP 7 38431556 38431556 single base substitution G A synonymous_variant N439N 1317C>T LINC-JP 7 38431556 38431556 single base substitution G A synonymous_variant N515N 1545C>T LINC-JP 7 38431556 38431556 single base substitution G A synonymous_variant N557N 1671C>T LINC-JP 7 38434605 38434605 single base substitution T C intron_variant LINC-JP 7 38434605 38434605 single base substitution T C upstream_gene_variant LINC-JP 7 38439531 38439531 single base substitution C T intron_variant LINC-JP 7 38452710 38452710 single base substitution G A intron_variant LINC-JP 7 38460349 38460349 single base substitution G C intron_variant LINC-JP 7 38460349 38460349 single base substitution G C upstream_gene_variant LINC-JP 7 38461967 38461967 single base substitution A T intron_variant LINC-JP 7 38461967 38461967 single base substitution A T upstream_gene_variant LINC-JP 7 38466912 38466912 single base substitution C T intron_variant LINC-JP 7 38468079 38468079 single base substitution T A exon_variant LINC-JP 7 38468079 38468079 single base substitution T A intron_variant LINC-JP 7 38468241 38468241 single base substitution C T exon_variant LINC-JP 7 38468241 38468241 single base substitution C T intron_variant LINC-JP 7 38468339 38468339 single base substitution T C exon_variant LINC-JP 7 38468339 38468339 single base substitution T C intron_variant LINC-JP 7 38468612 38468612 single base substitution T A exon_variant LINC-JP 7 38468612 38468612 single base substitution T A intron_variant LINC-JP 7 38469296 38469296 single base substitution C G intron_variant LINC-JP 7 38469296 38469296 single base substitution C G upstream_gene_variant LINC-JP 7 38469435 38469435 single base substitution T C intron_variant LINC-JP 7 38469435 38469435 single base substitution T C splice_region_variant LINC-JP 7 38469435 38469435 single base substitution T C upstream_gene_variant LINC-JP 7 38471677 38471677 single base substitution C A intron_variant LINC-JP 7 38471677 38471677 single base substitution C A upstream_gene_variant LINC-JP 7 38473837 38473837 single base substitution G A intron_variant LINC-JP 7 38473837 38473837 single base substitution G A upstream_gene_variant LINC-JP 7 38475127 38475127 single base substitution T C intron_variant LINC-JP 7 38475946 38475946 single base substitution G A synonymous_variant L104L 310C>T LINC-JP 7 38475946 38475946 single base substitution G A synonymous_variant L354L 1060C>T LINC-JP 7 38487340 38487343 deletion of <=200bp ACAG - intron_variant LINC-JP 7 38488509 38488509 single base substitution A C intron_variant LINC-JP 7 38500882 38500882 single base substitution C T splice_donor_variant LINC-JP 7 38502706 38502706 single base substitution C A missense_variant G253C 757G>T LINC-JP 7 38502706 38502706 single base substitution C A missense_variant G3C 7G>T LINC-JP 7 38520495 38520495 single base substitution A G intron_variant LINC-JP 7 38530052 38530052 single base substitution A G intron_variant LINC-JP 7 38530606 38530606 deletion of <=200bp T - intron_variant LINC-JP 7 38530981 38530981 single base substitution A T intron_variant LINC-JP 7 38534016 38534016 single base substitution G T intron_variant LINC-JP 7 38534071 38534071 single base substitution C A missense_variant D88Y 262G>T LINC-JP 7 38534282 38534282 single base substitution T A intron_variant LINC-JP 7 38534382 38534382 single base substitution C A intron_variant LINC-JP 7 38549722 38549722 single base substitution G A intron_variant LINC-JP 7 38558057 38558057 single base substitution A C intron_variant LINC-JP 7 38558342 38558342 single base substitution C T intron_variant LINC-JP 7 38561813 38561813 single base substitution C A intron_variant LINC-JP 7 38562242 38562242 single base substitution C A intron_variant LINC-JP 7 38565874 38565874 single base substitution T G intron_variant LINC-JP 7 38567448 38567448 single base substitution C T intron_variant LINC-JP 7 38574831 38574831 single base substitution T A intron_variant LINC-JP 7 38578551 38578551 single base substitution T A intron_variant LINC-JP 7 38589927 38589927 single base substitution G C intron_variant LINC-JP 7 38598046 38598046 single base substitution G A intron_variant LINC-JP 7 38598613 38598613 single base substitution A G intron_variant LINC-JP 7 38599318 38599318 single base substitution T C intron_variant LINC-JP 7 38612973 38612976 deletion of <=200bp ATGT - intron_variant LINC-JP 7 38615539 38615539 single base substitution C T intron_variant LINC-JP 7 38627369 38627369 single base substitution G C intron_variant LINC-JP 7 38630391 38630391 single base substitution T C intron_variant LINC-JP 7 38631997 38631997 single base substitution C A intron_variant LINC-JP 7 38642690 38642690 single base substitution T G intron_variant LINC-JP 7 38643816 38643816 single base substitution A G intron_variant LINC-JP 7 38645309 38645309 single base substitution G C intron_variant LINC-JP 7 38648000 38648000 single base substitution A G intron_variant LINC-JP 7 38648164 38648164 single base substitution G C intron_variant LINC-JP 7 38657793 38657793 single base substitution A G intron_variant LINC-JP 7 38659498 38659498 single base substitution T C intron_variant LINC-JP 7 38660455 38660455 single base substitution G A intron_variant LINC-JP 7 38664147 38664147 deletion of <=200bp A - intron_variant LINC-JP 7 38664214 38664214 single base substitution G C intron_variant LINC-JP 7 38668372 38668372 single base substitution A G intron_variant LINC-JP 7 38671318 38671318 single base substitution G T upstream_gene_variant LINC-JP 7 38673156 38673156 single base substitution G C upstream_gene_variant LINC-JP 7 38673205 38673205 single base substitution G C upstream_gene_variant LIRI-JP 7 38418552 38418552 single base substitution C T downstream_gene_variant LIRI-JP 7 38419542 38419542 single base substitution C T downstream_gene_variant LIRI-JP 7 38419614 38419614 single base substitution A T downstream_gene_variant LIRI-JP 7 38420547 38420547 single base substitution G T downstream_gene_variant LIRI-JP 7 38420714 38420714 single base substitution T G downstream_gene_variant LIRI-JP 7 38421560 38421560 single base substitution G T downstream_gene_variant LIRI-JP 7 38422791 38422791 single base substitution C T downstream_gene_variant LIRI-JP 7 38423463 38423463 single base substitution T C 3_prime_UTR_variant LIRI-JP 7 38423463 38423463 single base substitution T C downstream_gene_variant LIRI-JP 7 38425498 38425498 single base substitution T C downstream_gene_variant LIRI-JP 7 38425498 38425498 single base substitution T C intron_variant LIRI-JP 7 38426152 38426152 single base substitution T C downstream_gene_variant LIRI-JP 7 38426152 38426152 single base substitution T C intron_variant LIRI-JP 7 38426254 38426254 single base substitution C A downstream_gene_variant LIRI-JP 7 38426254 38426254 single base substitution C A intron_variant LIRI-JP 7 38427176 38427176 single base substitution A T downstream_gene_variant LIRI-JP 7 38427176 38427176 single base substitution A T intron_variant LIRI-JP 7 38428489 38428489 single base substitution C T downstream_gene_variant LIRI-JP 7 38428489 38428489 single base substitution C T intron_variant LIRI-JP 7 38428490 38428490 single base substitution C A downstream_gene_variant LIRI-JP 7 38428490 38428490 single base substitution C A intron_variant LIRI-JP 7 38428925 38428925 single base substitution A G downstream_gene_variant LIRI-JP 7 38428925 38428925 single base substitution A G intron_variant LIRI-JP 7 38429271 38429271 single base substitution C A downstream_gene_variant LIRI-JP 7 38429271 38429271 single base substitution C A intron_variant LIRI-JP 7 38432735 38432735 single base substitution G A downstream_gene_variant LIRI-JP 7 38432735 38432735 single base substitution G A intron_variant LIRI-JP 7 38432735 38432735 single base substitution G A upstream_gene_variant LIRI-JP 7 38432982 38432982 single base substitution G T downstream_gene_variant LIRI-JP 7 38432982 38432982 single base substitution G T intron_variant LIRI-JP 7 38432982 38432982 single base substitution G T upstream_gene_variant LIRI-JP 7 38433317 38433317 single base substitution T C downstream_gene_variant LIRI-JP 7 38433317 38433317 single base substitution T C intron_variant LIRI-JP 7 38433317 38433317 single base substitution T C upstream_gene_variant LIRI-JP 7 38434274 38434274 single base substitution T C intron_variant LIRI-JP 7 38434274 38434274 single base substitution T C upstream_gene_variant LIRI-JP 7 38434631 38434631 single base substitution A T intron_variant LIRI-JP 7 38434631 38434631 single base substitution A T upstream_gene_variant LIRI-JP 7 38435800 38435800 single base substitution A G intron_variant LIRI-JP 7 38435800 38435800 single base substitution A G upstream_gene_variant LIRI-JP 7 38435984 38435984 single base substitution C A intron_variant LIRI-JP 7 38435984 38435984 single base substitution C A upstream_gene_variant LIRI-JP 7 38437216 38437216 single base substitution A G intron_variant LIRI-JP 7 38437216 38437216 single base substitution A G upstream_gene_variant LIRI-JP 7 38437744 38437744 single base substitution A G intron_variant LIRI-JP 7 38438139 38438139 single base substitution G A intron_variant LIRI-JP 7 38438183 38438183 single base substitution A G intron_variant LIRI-JP 7 38438449 38438449 deletion of <=200bp C - intron_variant LIRI-JP 7 38439133 38439133 single base substitution A T intron_variant LIRI-JP 7 38439198 38439198 single base substitution A G intron_variant LIRI-JP 7 38439256 38439256 single base substitution C A intron_variant LIRI-JP 7 38439444 38439444 single base substitution T C intron_variant LIRI-JP 7 38440892 38440892 single base substitution G T intron_variant LIRI-JP 7 38440958 38440958 single base substitution G C intron_variant LIRI-JP 7 38441095 38441095 single base substitution A T intron_variant LIRI-JP 7 38442112 38442112 single base substitution C A intron_variant LIRI-JP 7 38442987 38442987 single base substitution G A intron_variant LIRI-JP 7 38444107 38444107 single base substitution A G intron_variant LIRI-JP 7 38444900 38444900 single base substitution T A intron_variant LIRI-JP 7 38446155 38446155 single base substitution A G intron_variant LIRI-JP 7 38447625 38447625 single base substitution C A intron_variant LIRI-JP 7 38448127 38448127 single base substitution C T intron_variant LIRI-JP 7 38448847 38448847 single base substitution T C intron_variant LIRI-JP 7 38450901 38450901 single base substitution G A intron_variant LIRI-JP 7 38451416 38451416 single base substitution A G intron_variant LIRI-JP 7 38451991 38451991 single base substitution A G intron_variant LIRI-JP 7 38452306 38452306 single base substitution A G intron_variant LIRI-JP 7 38452763 38452763 single base substitution G T intron_variant LIRI-JP 7 38455032 38455032 single base substitution G A intron_variant LIRI-JP 7 38455215 38455215 single base substitution A T intron_variant LIRI-JP 7 38455375 38455375 single base substitution A T intron_variant LIRI-JP 7 38455395 38455395 deletion of <=200bp G - intron_variant LIRI-JP 7 38455701 38455701 single base substitution G A intron_variant LIRI-JP 7 38457007 38457007 single base substitution G A intron_variant LIRI-JP 7 38457113 38457113 single base substitution C T intron_variant LIRI-JP 7 38457848 38457848 single base substitution C A intron_variant LIRI-JP 7 38457848 38457848 single base substitution C A upstream_gene_variant LIRI-JP 7 38458305 38458305 single base substitution T A intron_variant LIRI-JP 7 38458305 38458305 single base substitution T A upstream_gene_variant LIRI-JP 7 38458314 38458314 single base substitution A G intron_variant LIRI-JP 7 38458314 38458314 single base substitution A G upstream_gene_variant LIRI-JP 7 38458347 38458347 single base substitution A G intron_variant LIRI-JP 7 38458347 38458347 single base substitution A G upstream_gene_variant LIRI-JP 7 38459150 38459150 single base substitution A G intron_variant LIRI-JP 7 38459150 38459150 single base substitution A G upstream_gene_variant LIRI-JP 7 38459232 38459232 single base substitution G T intron_variant LIRI-JP 7 38459232 38459232 single base substitution G T upstream_gene_variant LIRI-JP 7 38459877 38459877 single base substitution A G intron_variant LIRI-JP 7 38459877 38459877 single base substitution A G upstream_gene_variant LIRI-JP 7 38460672 38460672 single base substitution A G intron_variant LIRI-JP 7 38460672 38460672 single base substitution A G upstream_gene_variant LIRI-JP 7 38460964 38460964 single base substitution G A intron_variant LIRI-JP 7 38460964 38460964 single base substitution G A upstream_gene_variant LIRI-JP 7 38461012 38461012 single base substitution T C intron_variant LIRI-JP 7 38461012 38461012 single base substitution T C upstream_gene_variant LIRI-JP 7 38462980 38462980 single base substitution G A intron_variant LIRI-JP 7 38463004 38463004 single base substitution A T intron_variant LIRI-JP 7 38463265 38463265 single base substitution C T intron_variant LIRI-JP 7 38463350 38463350 single base substitution C T intron_variant LIRI-JP 7 38464565 38464565 single base substitution G A intron_variant LIRI-JP 7 38464822 38464822 single base substitution G T intron_variant LIRI-JP 7 38466155 38466155 single base substitution A G intron_variant LIRI-JP 7 38466349 38466349 single base substitution T A intron_variant LIRI-JP 7 38466478 38466478 single base substitution C A intron_variant LIRI-JP 7 38466559 38466559 single base substitution T C exon_variant LIRI-JP 7 38466559 38466559 single base substitution T C missense_variant T328A 982A>G LIRI-JP 7 38466559 38466559 single base substitution T C missense_variant T404A 1210A>G LIRI-JP 7 38466813 38466813 single base substitution T C intron_variant LIRI-JP 7 38467207 38467207 single base substitution T C intron_variant LIRI-JP 7 38468102 38468102 single base substitution G C exon_variant LIRI-JP 7 38468102 38468102 single base substitution G C intron_variant LIRI-JP 7 38469256 38469257 deletion of <=200bp AC - intron_variant LIRI-JP 7 38469256 38469257 deletion of <=200bp AC - upstream_gene_variant LIRI-JP 7 38469942 38469942 single base substitution G C intron_variant LIRI-JP 7 38469942 38469942 single base substitution G C upstream_gene_variant LIRI-JP 7 38469945 38469945 single base substitution T C intron_variant LIRI-JP 7 38469945 38469945 single base substitution T C upstream_gene_variant LIRI-JP 7 38471005 38471005 single base substitution C T intron_variant LIRI-JP 7 38471005 38471005 single base substitution C T upstream_gene_variant LIRI-JP 7 38471790 38471790 single base substitution G A missense_variant T136M 407C>T LIRI-JP 7 38471790 38471790 single base substitution G A missense_variant T386M 1157C>T LIRI-JP 7 38471790 38471790 single base substitution G A upstream_gene_variant LIRI-JP 7 38472572 38472572 single base substitution A G intron_variant LIRI-JP 7 38472572 38472572 single base substitution A G upstream_gene_variant LIRI-JP 7 38474123 38474123 single base substitution C T intron_variant LIRI-JP 7 38474123 38474123 single base substitution C T upstream_gene_variant LIRI-JP 7 38475067 38475067 single base substitution T C intron_variant LIRI-JP 7 38475544 38475544 single base substitution G A intron_variant LIRI-JP 7 38476808 38476808 single base substitution T A intron_variant LIRI-JP 7 38477057 38477057 deletion of <=200bp T - intron_variant LIRI-JP 7 38477690 38477690 single base substitution A G intron_variant LIRI-JP 7 38478617 38478617 single base substitution G A intron_variant LIRI-JP 7 38478661 38478661 single base substitution C G intron_variant LIRI-JP 7 38479048 38479048 single base substitution G C intron_variant LIRI-JP 7 38479134 38479134 single base substitution A C intron_variant LIRI-JP 7 38479453 38479453 single base substitution T C intron_variant LIRI-JP 7 38479939 38479939 single base substitution A G intron_variant LIRI-JP 7 38481941 38481941 single base substitution C G intron_variant LIRI-JP 7 38482040 38482040 single base substitution C A intron_variant LIRI-JP 7 38482192 38482192 single base substitution T C intron_variant LIRI-JP 7 38482897 38482897 single base substitution C T intron_variant LIRI-JP 7 38483714 38483714 single base substitution C T intron_variant LIRI-JP 7 38483816 38483816 single base substitution C T intron_variant LIRI-JP 7 38485412 38485412 single base substitution G A intron_variant LIRI-JP 7 38486089 38486089 single base substitution A G intron_variant LIRI-JP 7 38486706 38486706 single base substitution G A intron_variant LIRI-JP 7 38487837 38487837 single base substitution A G intron_variant LIRI-JP 7 38487960 38487960 single base substitution A T intron_variant LIRI-JP 7 38491934 38491934 single base substitution T C intron_variant LIRI-JP 7 38492796 38492796 single base substitution C G intron_variant LIRI-JP 7 38494002 38494002 single base substitution C A intron_variant LIRI-JP 7 38494003 38494003 single base substitution C A intron_variant LIRI-JP 7 38494353 38494353 single base substitution A T intron_variant LIRI-JP 7 38497466 38497466 single base substitution A T intron_variant LIRI-JP 7 38498210 38498210 single base substitution A G intron_variant LIRI-JP 7 38498445 38498445 single base substitution A G intron_variant LIRI-JP 7 38498450 38498450 single base substitution A C intron_variant LIRI-JP 7 38498651 38498651 single base substitution T C intron_variant LIRI-JP 7 38498802 38498802 single base substitution A G intron_variant LIRI-JP 7 38499050 38499050 single base substitution T C intron_variant LIRI-JP 7 38499118 38499118 single base substitution A G intron_variant LIRI-JP 7 38499512 38499512 single base substitution T C intron_variant LIRI-JP 7 38501420 38501420 single base substitution T C intron_variant LIRI-JP 7 38502529 38502529 single base substitution A G intron_variant LIRI-JP 7 38502805 38502805 single base substitution T C intron_variant LIRI-JP 7 38502805 38502805 single base substitution T C upstream_gene_variant LIRI-JP 7 38504718 38504718 single base substitution C T intron_variant LIRI-JP 7 38504718 38504718 single base substitution C T upstream_gene_variant LIRI-JP 7 38505154 38505154 single base substitution G C splice_region_variant LIRI-JP 7 38505154 38505154 single base substitution G C upstream_gene_variant LIRI-JP 7 38505206 38505206 single base substitution G A intron_variant LIRI-JP 7 38505206 38505206 single base substitution G A upstream_gene_variant LIRI-JP 7 38505577 38505577 single base substitution A T intron_variant LIRI-JP 7 38505577 38505577 single base substitution A T upstream_gene_variant LIRI-JP 7 38506571 38506571 single base substitution C T intron_variant LIRI-JP 7 38506571 38506571 single base substitution C T upstream_gene_variant LIRI-JP 7 38506932 38506932 single base substitution G A intron_variant LIRI-JP 7 38506932 38506932 single base substitution G A upstream_gene_variant LIRI-JP 7 38507623 38507623 single base substitution T C intron_variant LIRI-JP 7 38507623 38507623 single base substitution T C upstream_gene_variant LIRI-JP 7 38507710 38507710 single base substitution G T intron_variant LIRI-JP 7 38507710 38507710 single base substitution G T upstream_gene_variant LIRI-JP 7 38509040 38509040 single base substitution C T intron_variant LIRI-JP 7 38510006 38510006 single base substitution A T intron_variant LIRI-JP 7 38510812 38510812 single base substitution A G intron_variant LIRI-JP 7 38511282 38511282 single base substitution G C intron_variant LIRI-JP 7 38512665 38512665 single base substitution T G intron_variant LIRI-JP 7 38513824 38513824 single base substitution A T intron_variant LIRI-JP 7 38514330 38514330 single base substitution T C intron_variant LIRI-JP 7 38515033 38515033 single base substitution A G intron_variant LIRI-JP 7 38515109 38515109 single base substitution C T intron_variant LIRI-JP 7 38515345 38515345 single base substitution T C intron_variant LIRI-JP 7 38516368 38516368 single base substitution T C intron_variant LIRI-JP 7 38516615 38516615 single base substitution G C intron_variant LIRI-JP 7 38517382 38517382 single base substitution G T intron_variant LIRI-JP 7 38517892 38517892 single base substitution A G intron_variant LIRI-JP 7 38519723 38519723 single base substitution T C intron_variant LIRI-JP 7 38520209 38520209 single base substitution C G intron_variant LIRI-JP 7 38520237 38520237 single base substitution G T intron_variant LIRI-JP 7 38521021 38521021 single base substitution T C intron_variant LIRI-JP 7 38521456 38521456 single base substitution T C intron_variant LIRI-JP 7 38521911 38521911 single base substitution C A intron_variant LIRI-JP 7 38523410 38523410 single base substitution C A intron_variant LIRI-JP 7 38525068 38525068 single base substitution A G intron_variant LIRI-JP 7 38525862 38525862 single base substitution C A intron_variant LIRI-JP 7 38525863 38525863 single base substitution A T intron_variant LIRI-JP 7 38525929 38525929 single base substitution A T intron_variant LIRI-JP 7 38525973 38525973 single base substitution A T intron_variant LIRI-JP 7 38529494 38529494 single base substitution A G intron_variant LIRI-JP 7 38529829 38529829 single base substitution C A intron_variant LIRI-JP 7 38530282 38530282 single base substitution T C intron_variant LIRI-JP 7 38530602 38530602 single base substitution T C intron_variant LIRI-JP 7 38530606 38530606 single base substitution T C intron_variant LIRI-JP 7 38531343 38531343 single base substitution A G intron_variant LIRI-JP 7 38531429 38531429 single base substitution A G intron_variant LIRI-JP 7 38531518 38531518 single base substitution C T intron_variant LIRI-JP 7 38532608 38532608 single base substitution G A intron_variant LIRI-JP 7 38534455 38534455 single base substitution C T intron_variant LIRI-JP 7 38535083 38535083 single base substitution A C intron_variant LIRI-JP 7 38535867 38535867 single base substitution G A intron_variant LIRI-JP 7 38537936 38537936 single base substitution C A intron_variant LIRI-JP 7 38537966 38537966 single base substitution A C intron_variant LIRI-JP 7 38538817 38538817 single base substitution C T intron_variant LIRI-JP 7 38538939 38538939 single base substitution G T intron_variant LIRI-JP 7 38539591 38539591 single base substitution C A intron_variant LIRI-JP 7 38540265 38540265 single base substitution A G intron_variant LIRI-JP 7 38541132 38541132 single base substitution T A intron_variant LIRI-JP 7 38542288 38542288 single base substitution G A intron_variant LIRI-JP 7 38542345 38542345 single base substitution T C intron_variant LIRI-JP 7 38542369 38542369 single base substitution C A intron_variant LIRI-JP 7 38543301 38543301 single base substitution C G missense_variant E52Q 154G>C LIRI-JP 7 38543553 38543553 single base substitution C A intron_variant LIRI-JP 7 38543724 38543724 single base substitution T C intron_variant LIRI-JP 7 38544318 38544318 single base substitution A G intron_variant LIRI-JP 7 38544403 38544403 single base substitution C T intron_variant LIRI-JP 7 38544671 38544671 single base substitution A G intron_variant LIRI-JP 7 38544696 38544696 single base substitution C A intron_variant LIRI-JP 7 38544832 38544832 single base substitution A C intron_variant LIRI-JP 7 38546498 38546498 single base substitution T C intron_variant LIRI-JP 7 38547376 38547376 single base substitution A T intron_variant LIRI-JP 7 38547636 38547636 single base substitution A T intron_variant LIRI-JP 7 38547893 38547893 single base substitution C T intron_variant LIRI-JP 7 38548611 38548611 single base substitution T A intron_variant LIRI-JP 7 38549121 38549121 single base substitution C T intron_variant LIRI-JP 7 38550235 38550235 single base substitution A G intron_variant LIRI-JP 7 38551440 38551440 single base substitution T C intron_variant LIRI-JP 7 38551572 38551572 single base substitution T A intron_variant LIRI-JP 7 38551791 38551791 single base substitution G A intron_variant LIRI-JP 7 38552281 38552281 single base substitution G A intron_variant LIRI-JP 7 38552294 38552294 single base substitution A G intron_variant LIRI-JP 7 38553149 38553149 single base substitution A T intron_variant LIRI-JP 7 38553198 38553200 deletion of <=200bp AAG - intron_variant LIRI-JP 7 38554369 38554369 single base substitution G C intron_variant LIRI-JP 7 38554478 38554478 single base substitution T A intron_variant LIRI-JP 7 38554598 38554598 single base substitution C A intron_variant LIRI-JP 7 38555444 38555444 single base substitution A T intron_variant LIRI-JP 7 38555673 38555673 single base substitution T C intron_variant LIRI-JP 7 38555773 38555773 single base substitution A T intron_variant LIRI-JP 7 38556045 38556045 single base substitution C G intron_variant LIRI-JP 7 38556093 38556093 single base substitution G T intron_variant LIRI-JP 7 38556247 38556247 single base substitution C T intron_variant LIRI-JP 7 38556613 38556613 single base substitution T G intron_variant LIRI-JP 7 38557622 38557622 single base substitution G A intron_variant LIRI-JP 7 38558229 38558229 single base substitution C A intron_variant LIRI-JP 7 38558766 38558766 single base substitution T A intron_variant LIRI-JP 7 38558908 38558908 single base substitution A G intron_variant LIRI-JP 7 38559704 38559704 single base substitution A G intron_variant LIRI-JP 7 38559763 38559763 single base substitution G T intron_variant LIRI-JP 7 38560867 38560867 single base substitution T A intron_variant LIRI-JP 7 38563330 38563330 single base substitution G A intron_variant LIRI-JP 7 38563698 38563698 single base substitution A G intron_variant LIRI-JP 7 38564546 38564546 single base substitution G A intron_variant LIRI-JP 7 38564667 38564667 single base substitution G A intron_variant LIRI-JP 7 38564709 38564709 single base substitution A G intron_variant LIRI-JP 7 38566386 38566386 single base substitution A T intron_variant LIRI-JP 7 38566465 38566465 single base substitution C A intron_variant LIRI-JP 7 38567922 38567922 single base substitution C G intron_variant LIRI-JP 7 38567930 38567930 single base substitution T C intron_variant LIRI-JP 7 38568631 38568631 single base substitution A G intron_variant LIRI-JP 7 38570708 38570708 single base substitution C T intron_variant LIRI-JP 7 38571465 38571465 single base substitution C A intron_variant LIRI-JP 7 38572514 38572514 single base substitution C T intron_variant LIRI-JP 7 38572643 38572643 single base substitution G T intron_variant LIRI-JP 7 38574546 38574546 single base substitution G T missense_variant N45K 135C>A LIRI-JP 7 38574600 38574600 single base substitution C G missense_variant K27N 81G>C LIRI-JP 7 38575437 38575437 single base substitution G A intron_variant LIRI-JP 7 38575560 38575560 single base substitution G T intron_variant LIRI-JP 7 38576068 38576068 single base substitution T C intron_variant LIRI-JP 7 38576071 38576071 single base substitution G A intron_variant LIRI-JP 7 38576995 38576995 single base substitution A G intron_variant LIRI-JP 7 38579455 38579455 single base substitution A G intron_variant LIRI-JP 7 38580888 38580938 deletion of <=200bp GTGCAGGGTAGCTGCTTGTCCTAAAGCTTCCTGCTGGGCACGTCCTACACT - intron_variant LIRI-JP 7 38581298 38581298 single base substitution C G intron_variant LIRI-JP 7 38581727 38581727 single base substitution G A intron_variant LIRI-JP 7 38581728 38581728 single base substitution G T intron_variant LIRI-JP 7 38582162 38582162 single base substitution G T intron_variant LIRI-JP 7 38582525 38582525 single base substitution C A intron_variant LIRI-JP 7 38583074 38583074 single base substitution G T intron_variant LIRI-JP 7 38583371 38583371 deletion of <=200bp C - intron_variant LIRI-JP 7 38583588 38583588 single base substitution A G intron_variant LIRI-JP 7 38583962 38583962 single base substitution G A intron_variant LIRI-JP 7 38584162 38584162 single base substitution T G intron_variant LIRI-JP 7 38584433 38584433 single base substitution G A intron_variant LIRI-JP 7 38585596 38585596 single base substitution C T intron_variant LIRI-JP 7 38586001 38586001 single base substitution A C intron_variant LIRI-JP 7 38586385 38586385 single base substitution A G intron_variant LIRI-JP 7 38587108 38587108 single base substitution G T intron_variant LIRI-JP 7 38587334 38587334 single base substitution T A intron_variant LIRI-JP 7 38587658 38587658 single base substitution T A intron_variant LIRI-JP 7 38587692 38587692 single base substitution G A intron_variant LIRI-JP 7 38588833 38588833 insertion of <=200bp - A intron_variant LIRI-JP 7 38589098 38589098 single base substitution C T intron_variant LIRI-JP 7 38590434 38590434 single base substitution T C intron_variant LIRI-JP 7 38591272 38591272 single base substitution C T intron_variant LIRI-JP 7 38591656 38591656 single base substitution C G intron_variant LIRI-JP 7 38593379 38593379 single base substitution A T intron_variant LIRI-JP 7 38593380 38593380 single base substitution G T intron_variant LIRI-JP 7 38593737 38593737 single base substitution C G intron_variant LIRI-JP 7 38594031 38594031 single base substitution A G intron_variant LIRI-JP 7 38594452 38594452 single base substitution A G intron_variant LIRI-JP 7 38594839 38594839 single base substitution T C intron_variant LIRI-JP 7 38595267 38595267 single base substitution T A intron_variant LIRI-JP 7 38595350 38595350 single base substitution A G intron_variant LIRI-JP 7 38596414 38596414 single base substitution A G intron_variant LIRI-JP 7 38596659 38596659 single base substitution G T intron_variant LIRI-JP 7 38596772 38596772 single base substitution C T intron_variant LIRI-JP 7 38596846 38596846 single base substitution A G intron_variant LIRI-JP 7 38597981 38597981 single base substitution A C intron_variant LIRI-JP 7 38598016 38598016 single base substitution G A intron_variant LIRI-JP 7 38598573 38598573 single base substitution G C intron_variant LIRI-JP 7 38598644 38598644 single base substitution A T intron_variant LIRI-JP 7 38598860 38598860 single base substitution C T intron_variant LIRI-JP 7 38598901 38598901 single base substitution C G intron_variant LIRI-JP 7 38599023 38599023 single base substitution G A intron_variant LIRI-JP 7 38599029 38599029 single base substitution C G intron_variant LIRI-JP 7 38599156 38599156 single base substitution C T intron_variant LIRI-JP 7 38600451 38600451 single base substitution G T intron_variant LIRI-JP 7 38601095 38601095 single base substitution T G intron_variant LIRI-JP 7 38601205 38601205 single base substitution G C intron_variant LIRI-JP 7 38601627 38601627 single base substitution G T intron_variant LIRI-JP 7 38602141 38602141 deletion of <=200bp A - intron_variant LIRI-JP 7 38602144 38602144 single base substitution A G intron_variant LIRI-JP 7 38602458 38602458 single base substitution A G intron_variant LIRI-JP 7 38602660 38602660 single base substitution T C intron_variant LIRI-JP 7 38603482 38603482 single base substitution T C intron_variant LIRI-JP 7 38604048 38604048 single base substitution G A intron_variant LIRI-JP 7 38606691 38606691 single base substitution T C intron_variant LIRI-JP 7 38606935 38606935 single base substitution A G intron_variant LIRI-JP 7 38607071 38607071 single base substitution G A intron_variant LIRI-JP 7 38607776 38607776 single base substitution G C intron_variant LIRI-JP 7 38609747 38609747 single base substitution A C intron_variant LIRI-JP 7 38609756 38609756 deletion of <=200bp T - intron_variant LIRI-JP 7 38610442 38610442 single base substitution G A intron_variant LIRI-JP 7 38611854 38611854 single base substitution T C intron_variant LIRI-JP 7 38611867 38611867 single base substitution A G intron_variant LIRI-JP 7 38612332 38612332 single base substitution C A intron_variant LIRI-JP 7 38612503 38612503 single base substitution C A intron_variant LIRI-JP 7 38612577 38612577 single base substitution C G intron_variant LIRI-JP 7 38612908 38612908 single base substitution T C intron_variant LIRI-JP 7 38613166 38613166 single base substitution A T intron_variant LIRI-JP 7 38614261 38614261 single base substitution T A intron_variant LIRI-JP 7 38616120 38616120 single base substitution G T intron_variant LIRI-JP 7 38616709 38616709 single base substitution T C intron_variant LIRI-JP 7 38617740 38617740 single base substitution C T intron_variant LIRI-JP 7 38618150 38618150 single base substitution C T intron_variant LIRI-JP 7 38618643 38618643 single base substitution G T intron_variant LIRI-JP 7 38619031 38619031 single base substitution A G intron_variant LIRI-JP 7 38619556 38619556 single base substitution A C intron_variant LIRI-JP 7 38621083 38621083 single base substitution A C intron_variant LIRI-JP 7 38622785 38622785 single base substitution G A intron_variant LIRI-JP 7 38622809 38622809 single base substitution T C intron_variant LIRI-JP 7 38623838 38623838 single base substitution T C intron_variant LIRI-JP 7 38625829 38625829 single base substitution A G intron_variant LIRI-JP 7 38625993 38625993 single base substitution T C intron_variant LIRI-JP 7 38626095 38626095 single base substitution A G intron_variant LIRI-JP 7 38627025 38627025 single base substitution A T intron_variant LIRI-JP 7 38627029 38627029 single base substitution A G intron_variant LIRI-JP 7 38627935 38627935 single base substitution T C intron_variant LIRI-JP 7 38628541 38628541 single base substitution C A intron_variant LIRI-JP 7 38630008 38630008 single base substitution T A intron_variant LIRI-JP 7 38630962 38630962 single base substitution A C intron_variant LIRI-JP 7 38631048 38631048 single base substitution C A intron_variant LIRI-JP 7 38631697 38631697 single base substitution G T intron_variant LIRI-JP 7 38632281 38632281 single base substitution A T intron_variant LIRI-JP 7 38632410 38632410 single base substitution C A intron_variant LIRI-JP 7 38633070 38633070 single base substitution G T intron_variant LIRI-JP 7 38633529 38633529 single base substitution A T intron_variant LIRI-JP 7 38634685 38634685 single base substitution C T intron_variant LIRI-JP 7 38634838 38634838 single base substitution C T intron_variant LIRI-JP 7 38635779 38635779 single base substitution A G intron_variant LIRI-JP 7 38636767 38636767 single base substitution C A intron_variant LIRI-JP 7 38637174 38637174 single base substitution A T intron_variant LIRI-JP 7 38637353 38637353 single base substitution C T intron_variant LIRI-JP 7 38637448 38637448 single base substitution A G intron_variant LIRI-JP 7 38639251 38639251 single base substitution G T intron_variant LIRI-JP 7 38640008 38640008 single base substitution T A intron_variant LIRI-JP 7 38640264 38640264 single base substitution A G intron_variant LIRI-JP 7 38641758 38641758 single base substitution C G intron_variant LIRI-JP 7 38641863 38641863 single base substitution T C intron_variant LIRI-JP 7 38642058 38642058 single base substitution T C intron_variant LIRI-JP 7 38642687 38642687 single base substitution A C intron_variant LIRI-JP 7 38645063 38645063 single base substitution G A intron_variant LIRI-JP 7 38645278 38645278 single base substitution C T intron_variant LIRI-JP 7 38645782 38645782 single base substitution T C intron_variant LIRI-JP 7 38646863 38646863 single base substitution C T intron_variant LIRI-JP 7 38647254 38647254 single base substitution A G intron_variant LIRI-JP 7 38647754 38647754 single base substitution T C intron_variant LIRI-JP 7 38648461 38648461 single base substitution T C intron_variant LIRI-JP 7 38648933 38648933 single base substitution T C intron_variant LIRI-JP 7 38649274 38649274 single base substitution T C intron_variant LIRI-JP 7 38650387 38650387 single base substitution A G intron_variant LIRI-JP 7 38650731 38650731 single base substitution C T intron_variant LIRI-JP 7 38651329 38651329 single base substitution G A intron_variant LIRI-JP 7 38651780 38651780 single base substitution G T intron_variant LIRI-JP 7 38651888 38651888 single base substitution C G intron_variant LIRI-JP 7 38652813 38652813 single base substitution G A intron_variant LIRI-JP 7 38653114 38653114 single base substitution A G intron_variant LIRI-JP 7 38653220 38653220 single base substitution A G intron_variant LIRI-JP 7 38655322 38655322 single base substitution C T intron_variant LIRI-JP 7 38655510 38655510 single base substitution C T intron_variant LIRI-JP 7 38655846 38655846 single base substitution A G intron_variant LIRI-JP 7 38657193 38657193 single base substitution G A intron_variant LIRI-JP 7 38657884 38657884 single base substitution G A intron_variant LIRI-JP 7 38658893 38658893 single base substitution A G intron_variant LIRI-JP 7 38659672 38659672 single base substitution T A intron_variant LIRI-JP 7 38661168 38661168 single base substitution G T intron_variant LIRI-JP 7 38661246 38661246 single base substitution A G intron_variant LIRI-JP 7 38661288 38661288 single base substitution A G intron_variant LIRI-JP 7 38661738 38661738 single base substitution A G intron_variant LIRI-JP 7 38664229 38664229 single base substitution A T intron_variant LIRI-JP 7 38666546 38666546 single base substitution T A intron_variant LIRI-JP 7 38666660 38666660 single base substitution C A intron_variant LIRI-JP 7 38666831 38666831 single base substitution T C intron_variant LIRI-JP 7 38668153 38668153 single base substitution T A intron_variant LIRI-JP 7 38669003 38669003 single base substitution C T intron_variant LIRI-JP 7 38670136 38670136 single base substitution A G intron_variant LIRI-JP 7 38670235 38670235 single base substitution C G intron_variant LIRI-JP 7 38670634 38670634 single base substitution G A intron_variant LIRI-JP 7 38671545 38671545 single base substitution A G upstream_gene_variant LIRI-JP 7 38671554 38671554 single base substitution T C upstream_gene_variant LIRI-JP 7 38672759 38672759 single base substitution C T upstream_gene_variant LIRI-JP 7 38673801 38673801 single base substitution A T upstream_gene_variant LIRI-JP 7 38675126 38675126 single base substitution G T upstream_gene_variant LIRI-JP 7 38675239 38675239 single base substitution A C upstream_gene_variant LIRI-JP 7 38675603 38675603 single base substitution T C upstream_gene_variant LIRI-JP 7 38675686 38675686 single base substitution T A upstream_gene_variant LIRI-JP 7 38675806 38675806 single base substitution T A upstream_gene_variant LUSC-KR 7 38421459 38421459 single base substitution C T downstream_gene_variant LUSC-KR 7 38421705 38421705 single base substitution T A downstream_gene_variant LUSC-KR 7 38424012 38424012 single base substitution C T 3_prime_UTR_variant LUSC-KR 7 38424012 38424012 single base substitution C T downstream_gene_variant LUSC-KR 7 38424224 38424224 single base substitution G T 3_prime_UTR_variant LUSC-KR 7 38424224 38424224 single base substitution G T downstream_gene_variant LUSC-KR 7 38424590 38424590 single base substitution T A downstream_gene_variant LUSC-KR 7 38424590 38424590 single base substitution T A intron_variant LUSC-KR 7 38425314 38425314 single base substitution A T downstream_gene_variant LUSC-KR 7 38425314 38425314 single base substitution A T intron_variant LUSC-KR 7 38428281 38428281 single base substitution C A downstream_gene_variant LUSC-KR 7 38428281 38428281 single base substitution C A intron_variant LUSC-KR 7 38428682 38428682 single base substitution G C downstream_gene_variant LUSC-KR 7 38428682 38428682 single base substitution G C intron_variant LUSC-KR 7 38429242 38429242 single base substitution A G downstream_gene_variant LUSC-KR 7 38429242 38429242 single base substitution A G intron_variant LUSC-KR 7 38429264 38429264 single base substitution G T downstream_gene_variant LUSC-KR 7 38429264 38429264 single base substitution G T intron_variant LUSC-KR 7 38429316 38429316 single base substitution T C downstream_gene_variant LUSC-KR 7 38429316 38429316 single base substitution T C intron_variant LUSC-KR 7 38431333 38431333 single base substitution T A downstream_gene_variant LUSC-KR 7 38431333 38431333 single base substitution T A intron_variant LUSC-KR 7 38432371 38432371 single base substitution C G downstream_gene_variant LUSC-KR 7 38432371 38432371 single base substitution C G intron_variant LUSC-KR 7 38432371 38432371 single base substitution C G upstream_gene_variant LUSC-KR 7 38432426 38432426 single base substitution G A downstream_gene_variant LUSC-KR 7 38432426 38432426 single base substitution G A intron_variant LUSC-KR 7 38432426 38432426 single base substitution G A upstream_gene_variant LUSC-KR 7 38434216 38434216 single base substitution A T intron_variant LUSC-KR 7 38434216 38434216 single base substitution A T upstream_gene_variant LUSC-KR 7 38438108 38438108 single base substitution G A intron_variant LUSC-KR 7 38439128 38439128 single base substitution C A intron_variant LUSC-KR 7 38442032 38442032 single base substitution T A intron_variant LUSC-KR 7 38443263 38443263 single base substitution C T intron_variant LUSC-KR 7 38444125 38444125 single base substitution G A intron_variant LUSC-KR 7 38444126 38444126 single base substitution G T intron_variant LUSC-KR 7 38444881 38444881 single base substitution T C intron_variant LUSC-KR 7 38445658 38445658 single base substitution C G intron_variant LUSC-KR 7 38445967 38445967 single base substitution A T intron_variant LUSC-KR 7 38448136 38448136 single base substitution T G intron_variant LUSC-KR 7 38449089 38449089 single base substitution A T intron_variant LUSC-KR 7 38449264 38449264 single base substitution T G intron_variant LUSC-KR 7 38449586 38449586 single base substitution C T intron_variant LUSC-KR 7 38449604 38449604 single base substitution C T intron_variant LUSC-KR 7 38451503 38451503 single base substitution G A intron_variant LUSC-KR 7 38451931 38451931 single base substitution C G intron_variant LUSC-KR 7 38452821 38452821 single base substitution G C intron_variant LUSC-KR 7 38452965 38452965 single base substitution C A intron_variant LUSC-KR 7 38456039 38456039 single base substitution C G intron_variant LUSC-KR 7 38461064 38461064 single base substitution G C intron_variant LUSC-KR 7 38461064 38461064 single base substitution G C upstream_gene_variant LUSC-KR 7 38461956 38461956 single base substitution A G intron_variant LUSC-KR 7 38461956 38461956 single base substitution A G upstream_gene_variant LUSC-KR 7 38462186 38462186 single base substitution C A intron_variant LUSC-KR 7 38462186 38462186 single base substitution C A upstream_gene_variant LUSC-KR 7 38462187 38462187 single base substitution T C intron_variant LUSC-KR 7 38462187 38462187 single base substitution T C upstream_gene_variant LUSC-KR 7 38463316 38463316 single base substitution C A intron_variant LUSC-KR 7 38465145 38465145 single base substitution C A intron_variant LUSC-KR 7 38465707 38465707 single base substitution A G intron_variant LUSC-KR 7 38467333 38467333 single base substitution C T intron_variant LUSC-KR 7 38468831 38468831 single base substitution A G exon_variant LUSC-KR 7 38468831 38468831 single base substitution A G intron_variant LUSC-KR 7 38468831 38468831 single base substitution A G missense_variant I260T 779T>C LUSC-KR 7 38469641 38469641 single base substitution A T exon_variant LUSC-KR 7 38469641 38469641 single base substitution A T intron_variant LUSC-KR 7 38469641 38469641 single base substitution A T upstream_gene_variant LUSC-KR 7 38470633 38470633 single base substitution A G intron_variant LUSC-KR 7 38470633 38470633 single base substitution A G upstream_gene_variant LUSC-KR 7 38470911 38470911 single base substitution G T intron_variant LUSC-KR 7 38470911 38470911 single base substitution G T upstream_gene_variant LUSC-KR 7 38472620 38472620 single base substitution C A intron_variant LUSC-KR 7 38472620 38472620 single base substitution C A upstream_gene_variant LUSC-KR 7 38476897 38476897 single base substitution C G intron_variant LUSC-KR 7 38477239 38477239 single base substitution A G intron_variant LUSC-KR 7 38477477 38477477 single base substitution G T intron_variant LUSC-KR 7 38477545 38477545 single base substitution A T intron_variant LUSC-KR 7 38477699 38477699 single base substitution A C intron_variant LUSC-KR 7 38478795 38478795 single base substitution G C intron_variant LUSC-KR 7 38479703 38479703 single base substitution G A intron_variant LUSC-KR 7 38481274 38481274 single base substitution G C intron_variant LUSC-KR 7 38481842 38481842 single base substitution G A intron_variant LUSC-KR 7 38482383 38482383 single base substitution G T intron_variant LUSC-KR 7 38482421 38482421 single base substitution A T intron_variant LUSC-KR 7 38482443 38482443 single base substitution C A intron_variant LUSC-KR 7 38483297 38483297 single base substitution A G intron_variant LUSC-KR 7 38483905 38483905 single base substitution C T intron_variant LUSC-KR 7 38486010 38486010 single base substitution C G intron_variant LUSC-KR 7 38486252 38486252 single base substitution T A intron_variant LUSC-KR 7 38487439 38487439 single base substitution G T intron_variant LUSC-KR 7 38488830 38488830 single base substitution A G intron_variant LUSC-KR 7 38489546 38489546 single base substitution C A intron_variant LUSC-KR 7 38489795 38489795 single base substitution C A intron_variant LUSC-KR 7 38490515 38490515 single base substitution G A intron_variant LUSC-KR 7 38490674 38490674 single base substitution G T intron_variant LUSC-KR 7 38492128 38492128 single base substitution T A intron_variant LUSC-KR 7 38492367 38492367 single base substitution C A intron_variant LUSC-KR 7 38493628 38493628 single base substitution C A intron_variant LUSC-KR 7 38493934 38493934 single base substitution T A intron_variant LUSC-KR 7 38494776 38494776 single base substitution T A intron_variant LUSC-KR 7 38495730 38495730 single base substitution C T intron_variant LUSC-KR 7 38495886 38495886 single base substitution C A intron_variant LUSC-KR 7 38497153 38497153 single base substitution G A intron_variant LUSC-KR 7 38497199 38497199 single base substitution G A intron_variant LUSC-KR 7 38497682 38497682 single base substitution G A intron_variant LUSC-KR 7 38497815 38497815 single base substitution T A intron_variant LUSC-KR 7 38497887 38497887 single base substitution C A intron_variant LUSC-KR 7 38500101 38500101 single base substitution C G intron_variant LUSC-KR 7 38501866 38501866 single base substitution G C intron_variant LUSC-KR 7 38502379 38502379 single base substitution C A intron_variant LUSC-KR 7 38502680 38502680 single base substitution T C synonymous_variant P11P 33A>G LUSC-KR 7 38502680 38502680 single base substitution T C synonymous_variant P261P 783A>G LUSC-KR 7 38503410 38503410 single base substitution G T intron_variant LUSC-KR 7 38503410 38503410 single base substitution G T upstream_gene_variant LUSC-KR 7 38505591 38505591 single base substitution A G intron_variant LUSC-KR 7 38505591 38505591 single base substitution A G upstream_gene_variant LUSC-KR 7 38505705 38505705 single base substitution C G intron_variant LUSC-KR 7 38505705 38505705 single base substitution C G upstream_gene_variant LUSC-KR 7 38506495 38506495 single base substitution T C intron_variant LUSC-KR 7 38506495 38506495 single base substitution T C upstream_gene_variant LUSC-KR 7 38506624 38506624 single base substitution C A intron_variant LUSC-KR 7 38506624 38506624 single base substitution C A upstream_gene_variant LUSC-KR 7 38506884 38506884 single base substitution G C intron_variant LUSC-KR 7 38506884 38506884 single base substitution G C upstream_gene_variant LUSC-KR 7 38508933 38508933 single base substitution A C intron_variant LUSC-KR 7 38512731 38512731 single base substitution C G intron_variant LUSC-KR 7 38512834 38512834 single base substitution G T intron_variant LUSC-KR 7 38513080 38513080 single base substitution G T intron_variant LUSC-KR 7 38514187 38514187 single base substitution T A intron_variant LUSC-KR 7 38514581 38514581 single base substitution C T intron_variant LUSC-KR 7 38518249 38518249 single base substitution G A intron_variant LUSC-KR 7 38518422 38518422 single base substitution G T intron_variant LUSC-KR 7 38518766 38518766 single base substitution C G intron_variant LUSC-KR 7 38523522 38523522 single base substitution T C intron_variant LUSC-KR 7 38526219 38526219 single base substitution C A intron_variant LUSC-KR 7 38527526 38527526 single base substitution C G intron_variant LUSC-KR 7 38527538 38527538 single base substitution G C intron_variant LUSC-KR 7 38527538 38527538 single base substitution G T intron_variant LUSC-KR 7 38531543 38531543 single base substitution T C intron_variant LUSC-KR 7 38533801 38533801 single base substitution C G intron_variant LUSC-KR 7 38534623 38534623 single base substitution G T intron_variant LUSC-KR 7 38535495 38535495 single base substitution C A intron_variant LUSC-KR 7 38535544 38535544 single base substitution G C intron_variant LUSC-KR 7 38536624 38536624 single base substitution A G intron_variant LUSC-KR 7 38537025 38537025 single base substitution C A intron_variant LUSC-KR 7 38538411 38538411 single base substitution C A intron_variant LUSC-KR 7 38540105 38540105 single base substitution C A intron_variant LUSC-KR 7 38540910 38540910 single base substitution C G intron_variant LUSC-KR 7 38541235 38541235 single base substitution G A intron_variant LUSC-KR 7 38541336 38541336 single base substitution A T intron_variant LUSC-KR 7 38542278 38542278 single base substitution G T intron_variant LUSC-KR 7 38542768 38542768 single base substitution G T intron_variant LUSC-KR 7 38544275 38544275 single base substitution G C intron_variant LUSC-KR 7 38545179 38545179 single base substitution C T intron_variant LUSC-KR 7 38546845 38546845 single base substitution T A intron_variant LUSC-KR 7 38547298 38547298 single base substitution G A intron_variant LUSC-KR 7 38547367 38547367 single base substitution C G intron_variant LUSC-KR 7 38547824 38547824 single base substitution C A intron_variant LUSC-KR 7 38548089 38548089 single base substitution G C intron_variant LUSC-KR 7 38549030 38549030 single base substitution G T intron_variant LUSC-KR 7 38549034 38549034 single base substitution G C intron_variant LUSC-KR 7 38551512 38551512 single base substitution C A intron_variant LUSC-KR 7 38551521 38551521 single base substitution A G intron_variant LUSC-KR 7 38553584 38553584 single base substitution T C intron_variant LUSC-KR 7 38556185 38556185 single base substitution G T intron_variant LUSC-KR 7 38558400 38558400 single base substitution C A intron_variant LUSC-KR 7 38558404 38558404 single base substitution T C intron_variant LUSC-KR 7 38558596 38558596 single base substitution C A intron_variant LUSC-KR 7 38561350 38561350 single base substitution C G intron_variant LUSC-KR 7 38562062 38562062 single base substitution G C intron_variant LUSC-KR 7 38562994 38562994 single base substitution T G intron_variant LUSC-KR 7 38563047 38563047 single base substitution G T intron_variant LUSC-KR 7 38563220 38563220 single base substitution A G intron_variant LUSC-KR 7 38564198 38564198 single base substitution G A intron_variant LUSC-KR 7 38565108 38565108 single base substitution T A intron_variant LUSC-KR 7 38565232 38565232 single base substitution A T intron_variant LUSC-KR 7 38565840 38565840 single base substitution C A intron_variant LUSC-KR 7 38566172 38566172 single base substitution G A intron_variant LUSC-KR 7 38568694 38568694 single base substitution C A intron_variant LUSC-KR 7 38569269 38569269 single base substitution G A intron_variant LUSC-KR 7 38572473 38572473 single base substitution G C intron_variant LUSC-KR 7 38572700 38572700 single base substitution C A intron_variant LUSC-KR 7 38574457 38574457 single base substitution C T intron_variant LUSC-KR 7 38576224 38576224 single base substitution C T intron_variant LUSC-KR 7 38577854 38577854 single base substitution A G intron_variant LUSC-KR 7 38578263 38578263 single base substitution A T intron_variant LUSC-KR 7 38581875 38581875 single base substitution G T intron_variant LUSC-KR 7 38586776 38586776 single base substitution A G intron_variant LUSC-KR 7 38586883 38586883 single base substitution C G intron_variant LUSC-KR 7 38589840 38589840 single base substitution A G intron_variant LUSC-KR 7 38590595 38590595 single base substitution G T intron_variant LUSC-KR 7 38590639 38590639 single base substitution C T intron_variant LUSC-KR 7 38591125 38591125 single base substitution C A intron_variant LUSC-KR 7 38592837 38592837 single base substitution C A intron_variant LUSC-KR 7 38593594 38593594 single base substitution C A intron_variant LUSC-KR 7 38595071 38595071 single base substitution C T intron_variant LUSC-KR 7 38595817 38595817 single base substitution C A intron_variant LUSC-KR 7 38596260 38596260 single base substitution G A intron_variant LUSC-KR 7 38596958 38596958 single base substitution T G intron_variant LUSC-KR 7 38598996 38598996 single base substitution G T intron_variant LUSC-KR 7 38599067 38599067 single base substitution C A intron_variant LUSC-KR 7 38599784 38599784 single base substitution A G intron_variant LUSC-KR 7 38602293 38602293 single base substitution G C intron_variant LUSC-KR 7 38603100 38603100 single base substitution A G intron_variant LUSC-KR 7 38604130 38604130 single base substitution C A intron_variant LUSC-KR 7 38605236 38605236 single base substitution C A intron_variant LUSC-KR 7 38605538 38605538 single base substitution T A intron_variant LUSC-KR 7 38606238 38606238 single base substitution G T intron_variant LUSC-KR 7 38607823 38607823 single base substitution T C intron_variant LUSC-KR 7 38611853 38611853 single base substitution C A intron_variant LUSC-KR 7 38613868 38613868 single base substitution T A intron_variant LUSC-KR 7 38615937 38615937 single base substitution C A intron_variant LUSC-KR 7 38616934 38616934 single base substitution G A intron_variant LUSC-KR 7 38616996 38616996 single base substitution G T intron_variant LUSC-KR 7 38617426 38617426 single base substitution A T intron_variant LUSC-KR 7 38618162 38618162 single base substitution G T intron_variant LUSC-KR 7 38619021 38619021 single base substitution G C intron_variant LUSC-KR 7 38620079 38620079 single base substitution C G intron_variant LUSC-KR 7 38621487 38621487 single base substitution G A intron_variant LUSC-KR 7 38622114 38622114 single base substitution G C intron_variant LUSC-KR 7 38622513 38622513 single base substitution A G intron_variant LUSC-KR 7 38623442 38623442 single base substitution A G intron_variant LUSC-KR 7 38626781 38626781 single base substitution C A intron_variant LUSC-KR 7 38627313 38627313 single base substitution C A intron_variant LUSC-KR 7 38627540 38627540 single base substitution G T intron_variant LUSC-KR 7 38627606 38627606 single base substitution C A intron_variant LUSC-KR 7 38627787 38627787 single base substitution C A intron_variant LUSC-KR 7 38627847 38627847 single base substitution C A intron_variant LUSC-KR 7 38627981 38627981 single base substitution C G intron_variant LUSC-KR 7 38629381 38629381 single base substitution C A intron_variant LUSC-KR 7 38629618 38629618 single base substitution T A intron_variant LUSC-KR 7 38630319 38630319 single base substitution G A intron_variant LUSC-KR 7 38632471 38632471 single base substitution A G intron_variant LUSC-KR 7 38633536 38633536 single base substitution A G intron_variant LUSC-KR 7 38634184 38634184 single base substitution C T intron_variant LUSC-KR 7 38634933 38634933 single base substitution G A intron_variant LUSC-KR 7 38635871 38635871 single base substitution G C intron_variant LUSC-KR 7 38637402 38637402 single base substitution T C intron_variant LUSC-KR 7 38638749 38638749 single base substitution G C intron_variant LUSC-KR 7 38641453 38641453 single base substitution G T intron_variant LUSC-KR 7 38641507 38641507 single base substitution G T intron_variant LUSC-KR 7 38641830 38641830 single base substitution C A intron_variant LUSC-KR 7 38643252 38643252 single base substitution G T intron_variant LUSC-KR 7 38643482 38643482 single base substitution A T intron_variant LUSC-KR 7 38643990 38643990 single base substitution C A intron_variant LUSC-KR 7 38646823 38646823 single base substitution C A intron_variant LUSC-KR 7 38647103 38647103 single base substitution C A intron_variant LUSC-KR 7 38647381 38647381 single base substitution G A intron_variant LUSC-KR 7 38647482 38647482 single base substitution A G intron_variant LUSC-KR 7 38648157 38648157 single base substitution C T intron_variant LUSC-KR 7 38648331 38648331 single base substitution G A intron_variant LUSC-KR 7 38648811 38648811 single base substitution C T intron_variant LUSC-KR 7 38649049 38649049 single base substitution T C intron_variant LUSC-KR 7 38652703 38652703 single base substitution G A intron_variant LUSC-KR 7 38653161 38653161 single base substitution C T intron_variant LUSC-KR 7 38653389 38653389 single base substitution T A intron_variant LUSC-KR 7 38653892 38653892 single base substitution G C intron_variant LUSC-KR 7 38654533 38654533 single base substitution G A intron_variant LUSC-KR 7 38656088 38656088 single base substitution G A intron_variant LUSC-KR 7 38659551 38659551 single base substitution C T intron_variant LUSC-KR 7 38660415 38660415 single base substitution G T intron_variant LUSC-KR 7 38662952 38662952 single base substitution T A intron_variant LUSC-KR 7 38664063 38664063 single base substitution C T intron_variant LUSC-KR 7 38666222 38666222 single base substitution G T intron_variant LUSC-KR 7 38666727 38666727 single base substitution A T intron_variant LUSC-KR 7 38668726 38668726 single base substitution G A intron_variant LUSC-KR 7 38668759 38668759 single base substitution T A intron_variant LUSC-KR 7 38671327 38671327 single base substitution G A upstream_gene_variant LUSC-KR 7 38671914 38671914 single base substitution C A upstream_gene_variant LUSC-KR 7 38674657 38674657 single base substitution C A upstream_gene_variant LUSC-KR 7 38674658 38674658 single base substitution C A upstream_gene_variant LUSC-KR 7 38674904 38674904 single base substitution T C upstream_gene_variant LUSC-KR 7 38675212 38675212 single base substitution A G upstream_gene_variant LUSC-US 7 38424479 38424479 single base substitution G T downstream_gene_variant LUSC-US 7 38424479 38424479 single base substitution G T stop_gained Y558* 1674C>A LUSC-US 7 38424479 38424479 single base substitution G T stop_gained Y634* 1902C>A LUSC-US 7 38424479 38424479 single base substitution G T stop_gained Y676* 2028C>A LUSC-US 7 38431391 38431391 single base substitution T A downstream_gene_variant LUSC-US 7 38431391 38431391 single base substitution T A exon_variant LUSC-US 7 38431391 38431391 single base substitution T A synonymous_variant A494A 1482A>T LUSC-US 7 38431391 38431391 single base substitution T A synonymous_variant A570A 1710A>T LUSC-US 7 38431391 38431391 single base substitution T A synonymous_variant A612A 1836A>T LUSC-US 7 38431426 38431426 single base substitution G T downstream_gene_variant LUSC-US 7 38431426 38431426 single base substitution G T exon_variant LUSC-US 7 38431426 38431426 single base substitution G T missense_variant P483T 1447C>A LUSC-US 7 38431426 38431426 single base substitution G T missense_variant P559T 1675C>A LUSC-US 7 38431426 38431426 single base substitution G T missense_variant P601T 1801C>A LUSC-US 7 38431468 38431468 single base substitution C G downstream_gene_variant LUSC-US 7 38431468 38431468 single base substitution C G exon_variant LUSC-US 7 38431468 38431468 single base substitution C G missense_variant E469Q 1405G>C LUSC-US 7 38431468 38431468 single base substitution C G missense_variant E545Q 1633G>C LUSC-US 7 38431468 38431468 single base substitution C G missense_variant E587Q 1759G>C LUSC-US 7 38433815 38433815 single base substitution C G splice_acceptor_variant LUSC-US 7 38433815 38433815 single base substitution C G upstream_gene_variant LUSC-US 7 38471793 38471793 single base substitution C A missense_variant W135L 404G>T LUSC-US 7 38471793 38471793 single base substitution C A missense_variant W385L 1154G>T LUSC-US 7 38471793 38471793 single base substitution C A upstream_gene_variant LUSC-US 7 38471795 38471795 single base substitution T C synonymous_variant L134L 402A>G LUSC-US 7 38471795 38471795 single base substitution T C synonymous_variant L384L 1152A>G LUSC-US 7 38471795 38471795 single base substitution T C upstream_gene_variant LUSC-US 7 38475876 38475876 single base substitution G A missense_variant S127F 380C>T LUSC-US 7 38475876 38475876 single base substitution G A missense_variant S377F 1130C>T LUSC-US 7 38475876 38475876 single base substitution G C missense_variant S127C 380C>G LUSC-US 7 38475876 38475876 single base substitution G C missense_variant S377C 1130C>G LUSC-US 7 38502604 38502604 single base substitution C T missense_variant A287T 859G>A LUSC-US 7 38502604 38502604 single base substitution C T missense_variant A37T 109G>A LUSC-US 7 38502670 38502670 single base substitution C A stop_gained E15* 43G>T LUSC-US 7 38502670 38502670 single base substitution C A stop_gained E265* 793G>T LUSC-US 7 38505102 38505102 single base substitution G C missense_variant H238Q 714C>G LUSC-US 7 38505102 38505102 single base substitution G C upstream_gene_variant LUSC-US 7 38516551 38516551 single base substitution T A missense_variant S139C 415A>T MALY-DE 7 38428419 38428419 single base substitution A T downstream_gene_variant MALY-DE 7 38428419 38428419 single base substitution A T intron_variant MALY-DE 7 38433399 38433399 single base substitution G A downstream_gene_variant MALY-DE 7 38433399 38433399 single base substitution G A intron_variant MALY-DE 7 38433399 38433399 single base substitution G A upstream_gene_variant MALY-DE 7 38439470 38439470 single base substitution C T intron_variant MALY-DE 7 38445704 38445704 single base substitution T G intron_variant MALY-DE 7 38448881 38448881 single base substitution A C intron_variant MALY-DE 7 38452372 38452372 single base substitution G A intron_variant MALY-DE 7 38454568 38454568 single base substitution A G intron_variant MALY-DE 7 38461720 38461720 single base substitution G T intron_variant MALY-DE 7 38461720 38461720 single base substitution G T upstream_gene_variant MALY-DE 7 38462187 38462187 single base substitution T C intron_variant MALY-DE 7 38462187 38462187 single base substitution T C upstream_gene_variant MALY-DE 7 38464795 38464795 single base substitution G A intron_variant MALY-DE 7 38465086 38465086 single base substitution A T intron_variant MALY-DE 7 38466498 38466498 deletion of <=200bp A - intron_variant MALY-DE 7 38467028 38467028 single base substitution C A intron_variant MALY-DE 7 38477812 38477812 single base substitution C T intron_variant MALY-DE 7 38478059 38478059 single base substitution T C intron_variant MALY-DE 7 38478210 38478210 single base substitution A G intron_variant MALY-DE 7 38479802 38479802 single base substitution T C intron_variant MALY-DE 7 38482389 38482389 deletion of <=200bp A - intron_variant MALY-DE 7 38486738 38486738 single base substitution G A intron_variant MALY-DE 7 38496468 38496468 single base substitution T G intron_variant MALY-DE 7 38499174 38499174 single base substitution G T intron_variant MALY-DE 7 38501784 38501784 single base substitution T G intron_variant MALY-DE 7 38502500 38502500 single base substitution G A intron_variant MALY-DE 7 38502781 38502781 single base substitution C A intron_variant MALY-DE 7 38502781 38502781 single base substitution C A upstream_gene_variant MALY-DE 7 38506078 38506078 single base substitution T C intron_variant MALY-DE 7 38506078 38506078 single base substitution T C upstream_gene_variant MALY-DE 7 38517709 38517709 single base substitution G A intron_variant MALY-DE 7 38523608 38523608 single base substitution A C intron_variant MALY-DE 7 38525633 38525633 single base substitution C T intron_variant MALY-DE 7 38526967 38526967 single base substitution C T intron_variant MALY-DE 7 38532313 38532313 single base substitution G T intron_variant MALY-DE 7 38532984 38532984 single base substitution T A intron_variant MALY-DE 7 38533056 38533056 deletion of <=200bp T - intron_variant MALY-DE 7 38533851 38533851 single base substitution A C intron_variant MALY-DE 7 38536844 38536844 single base substitution G T intron_variant MALY-DE 7 38538318 38538318 insertion of <=200bp - T intron_variant MALY-DE 7 38542278 38542278 single base substitution G C intron_variant MALY-DE 7 38543096 38543096 insertion of <=200bp - G intron_variant MALY-DE 7 38548353 38548353 single base substitution T C intron_variant MALY-DE 7 38558227 38558227 single base substitution T C intron_variant MALY-DE 7 38560067 38560067 single base substitution A C intron_variant MALY-DE 7 38561956 38561956 single base substitution T A intron_variant MALY-DE 7 38565046 38565047 deletion of <=200bp GT - intron_variant MALY-DE 7 38568820 38568820 single base substitution C T intron_variant MALY-DE 7 38571179 38571179 single base substitution A G intron_variant MALY-DE 7 38573358 38573358 single base substitution C A intron_variant MALY-DE 7 38579054 38579054 single base substitution A G intron_variant MALY-DE 7 38582113 38582113 single base substitution A T intron_variant MALY-DE 7 38587426 38587426 single base substitution C G intron_variant MALY-DE 7 38589417 38589417 single base substitution A G intron_variant MALY-DE 7 38591070 38591070 single base substitution T G intron_variant MALY-DE 7 38592996 38592996 single base substitution T G intron_variant MALY-DE 7 38597162 38597162 single base substitution T C intron_variant MALY-DE 7 38597498 38597498 insertion of <=200bp - A intron_variant MALY-DE 7 38602992 38602992 single base substitution C A intron_variant MALY-DE 7 38605763 38605763 single base substitution T G intron_variant MALY-DE 7 38606302 38606302 deletion of <=200bp A - intron_variant MALY-DE 7 38607508 38607508 single base substitution C T intron_variant MALY-DE 7 38607509 38607509 single base substitution A C intron_variant MALY-DE 7 38607527 38607527 single base substitution A G intron_variant MALY-DE 7 38609044 38609044 single base substitution G T intron_variant MALY-DE 7 38610956 38610956 single base substitution C T intron_variant MALY-DE 7 38614385 38614385 single base substitution G A intron_variant MALY-DE 7 38614686 38614686 single base substitution A C intron_variant MALY-DE 7 38615658 38615658 single base substitution C T intron_variant MALY-DE 7 38616234 38616234 single base substitution A C intron_variant MALY-DE 7 38621267 38621267 single base substitution G A intron_variant MALY-DE 7 38623184 38623184 single base substitution A G intron_variant MALY-DE 7 38623537 38623537 single base substitution T A intron_variant MALY-DE 7 38623739 38623739 single base substitution T G intron_variant MALY-DE 7 38624147 38624147 single base substitution A G intron_variant MALY-DE 7 38627655 38627655 single base substitution G A intron_variant MALY-DE 7 38628533 38628533 deletion of <=200bp C - intron_variant MALY-DE 7 38631315 38631315 single base substitution G A intron_variant MALY-DE 7 38636604 38636604 single base substitution G T intron_variant MALY-DE 7 38637847 38637847 single base substitution G A intron_variant MALY-DE 7 38639243 38639243 single base substitution T G intron_variant MALY-DE 7 38645342 38645342 deletion of <=200bp T - intron_variant MALY-DE 7 38649270 38649270 deletion of <=200bp T - intron_variant MALY-DE 7 38660746 38660746 single base substitution G A intron_variant MALY-DE 7 38660843 38660843 single base substitution T G intron_variant MALY-DE 7 38660952 38660952 single base substitution T C intron_variant MALY-DE 7 38662055 38662056 deletion of <=200bp AC - intron_variant MALY-DE 7 38662707 38662707 single base substitution G A intron_variant MALY-DE 7 38665758 38665758 insertion of <=200bp - T intron_variant MALY-DE 7 38668064 38668064 single base substitution T A intron_variant MELA-AU 7 38418580 38418580 single base substitution G A downstream_gene_variant MELA-AU 7 38418597 38418597 single base substitution C T downstream_gene_variant MELA-AU 7 38418806 38418806 single base substitution G A downstream_gene_variant MELA-AU 7 38418821 38418821 single base substitution G A downstream_gene_variant MELA-AU 7 38418837 38418837 single base substitution G A downstream_gene_variant MELA-AU 7 38418850 38418850 single base substitution G T downstream_gene_variant MELA-AU 7 38419079 38419079 single base substitution G C downstream_gene_variant MELA-AU 7 38419109 38419109 single base substitution G A downstream_gene_variant MELA-AU 7 38419139 38419139 single base substitution G A downstream_gene_variant MELA-AU 7 38419191 38419191 single base substitution C T downstream_gene_variant MELA-AU 7 38419313 38419313 single base substitution G A downstream_gene_variant MELA-AU 7 38419411 38419411 single base substitution G A downstream_gene_variant MELA-AU 7 38419574 38419574 single base substitution G A downstream_gene_variant MELA-AU 7 38419908 38419908 single base substitution A T downstream_gene_variant MELA-AU 7 38419944 38419944 single base substitution G A downstream_gene_variant MELA-AU 7 38419963 38419963 single base substitution G A downstream_gene_variant MELA-AU 7 38420182 38420183 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 38420201 38420201 single base substitution C T downstream_gene_variant MELA-AU 7 38420254 38420254 deletion of <=200bp T - downstream_gene_variant MELA-AU 7 38420258 38420258 single base substitution C T downstream_gene_variant MELA-AU 7 38420279 38420279 single base substitution C T downstream_gene_variant MELA-AU 7 38420332 38420332 single base substitution G A downstream_gene_variant MELA-AU 7 38420423 38420423 single base substitution G A downstream_gene_variant MELA-AU 7 38420603 38420603 single base substitution C T downstream_gene_variant MELA-AU 7 38420754 38420754 single base substitution G A downstream_gene_variant MELA-AU 7 38420953 38420953 single base substitution G A downstream_gene_variant MELA-AU 7 38421012 38421012 single base substitution G A downstream_gene_variant MELA-AU 7 38421227 38421227 single base substitution G T downstream_gene_variant MELA-AU 7 38421707 38421707 single base substitution C T downstream_gene_variant MELA-AU 7 38421804 38421804 single base substitution A G downstream_gene_variant MELA-AU 7 38421926 38421926 single base substitution T A downstream_gene_variant MELA-AU 7 38422003 38422003 single base substitution G A downstream_gene_variant MELA-AU 7 38422122 38422122 single base substitution A G downstream_gene_variant MELA-AU 7 38422131 38422131 single base substitution G A downstream_gene_variant MELA-AU 7 38422312 38422312 single base substitution C T downstream_gene_variant MELA-AU 7 38422466 38422466 single base substitution G A downstream_gene_variant MELA-AU 7 38422568 38422568 single base substitution C T downstream_gene_variant MELA-AU 7 38422648 38422648 single base substitution G A downstream_gene_variant MELA-AU 7 38422740 38422740 single base substitution G A downstream_gene_variant MELA-AU 7 38422753 38422753 single base substitution A C downstream_gene_variant MELA-AU 7 38423105 38423105 single base substitution G A downstream_gene_variant MELA-AU 7 38423333 38423333 single base substitution G A 3_prime_UTR_variant MELA-AU 7 38423333 38423333 single base substitution G A downstream_gene_variant MELA-AU 7 38423421 38423421 single base substitution A G 3_prime_UTR_variant MELA-AU 7 38423421 38423421 single base substitution A G downstream_gene_variant MELA-AU 7 38423502 38423502 single base substitution G A 3_prime_UTR_variant MELA-AU 7 38423502 38423502 single base substitution G A downstream_gene_variant MELA-AU 7 38423513 38423513 single base substitution A C 3_prime_UTR_variant MELA-AU 7 38423513 38423513 single base substitution A C downstream_gene_variant MELA-AU 7 38423515 38423515 single base substitution C T 3_prime_UTR_variant MELA-AU 7 38423515 38423515 single base substitution C T downstream_gene_variant MELA-AU 7 38423735 38423735 single base substitution C T 3_prime_UTR_variant MELA-AU 7 38423735 38423735 single base substitution C T downstream_gene_variant MELA-AU 7 38423827 38423827 single base substitution G A 3_prime_UTR_variant MELA-AU 7 38423827 38423827 single base substitution G A downstream_gene_variant MELA-AU 7 38423909 38423909 single base substitution C T 3_prime_UTR_variant MELA-AU 7 38423909 38423909 single base substitution C T downstream_gene_variant MELA-AU 7 38424022 38424022 single base substitution G A 3_prime_UTR_variant MELA-AU 7 38424022 38424022 single base substitution G A downstream_gene_variant MELA-AU 7 38424086 38424086 single base substitution G A 3_prime_UTR_variant MELA-AU 7 38424086 38424086 single base substitution G A downstream_gene_variant MELA-AU 7 38424576 38424576 single base substitution C T downstream_gene_variant MELA-AU 7 38424576 38424576 single base substitution C T intron_variant MELA-AU 7 38424598 38424598 single base substitution T C downstream_gene_variant MELA-AU 7 38424598 38424598 single base substitution T C intron_variant MELA-AU 7 38424633 38424633 single base substitution G A downstream_gene_variant MELA-AU 7 38424633 38424633 single base substitution G A intron_variant MELA-AU 7 38424933 38424933 single base substitution G A downstream_gene_variant MELA-AU 7 38424933 38424933 single base substitution G A intron_variant MELA-AU 7 38425171 38425171 single base substitution C T downstream_gene_variant MELA-AU 7 38425171 38425171 single base substitution C T intron_variant MELA-AU 7 38425403 38425403 single base substitution C T downstream_gene_variant MELA-AU 7 38425403 38425403 single base substitution C T intron_variant MELA-AU 7 38425524 38425524 single base substitution G A downstream_gene_variant MELA-AU 7 38425524 38425524 single base substitution G A intron_variant MELA-AU 7 38425560 38425560 single base substitution T C downstream_gene_variant MELA-AU 7 38425560 38425560 single base substitution T C intron_variant MELA-AU 7 38425622 38425622 single base substitution G A downstream_gene_variant MELA-AU 7 38425622 38425622 single base substitution G A intron_variant MELA-AU 7 38425728 38425728 single base substitution G A downstream_gene_variant MELA-AU 7 38425728 38425728 single base substitution G A intron_variant MELA-AU 7 38425911 38425911 single base substitution C T downstream_gene_variant MELA-AU 7 38425911 38425911 single base substitution C T intron_variant MELA-AU 7 38425912 38425912 single base substitution C T downstream_gene_variant MELA-AU 7 38425912 38425912 single base substitution C T intron_variant MELA-AU 7 38426399 38426399 single base substitution G A downstream_gene_variant MELA-AU 7 38426399 38426399 single base substitution G A intron_variant MELA-AU 7 38426477 38426477 single base substitution C T downstream_gene_variant MELA-AU 7 38426477 38426477 single base substitution C T intron_variant MELA-AU 7 38426525 38426525 single base substitution G A downstream_gene_variant MELA-AU 7 38426525 38426525 single base substitution G A intron_variant MELA-AU 7 38426538 38426538 single base substitution C T downstream_gene_variant MELA-AU 7 38426538 38426538 single base substitution C T intron_variant MELA-AU 7 38426603 38426603 single base substitution C T downstream_gene_variant MELA-AU 7 38426603 38426603 single base substitution C T intron_variant MELA-AU 7 38426676 38426676 single base substitution C T downstream_gene_variant MELA-AU 7 38426676 38426676 single base substitution C T intron_variant MELA-AU 7 38426860 38426860 single base substitution G A downstream_gene_variant MELA-AU 7 38426860 38426860 single base substitution G A intron_variant MELA-AU 7 38426861 38426861 single base substitution A G downstream_gene_variant MELA-AU 7 38426861 38426861 single base substitution A G intron_variant MELA-AU 7 38427107 38427107 single base substitution G A downstream_gene_variant MELA-AU 7 38427107 38427107 single base substitution G A intron_variant MELA-AU 7 38427120 38427120 single base substitution A G downstream_gene_variant MELA-AU 7 38427120 38427120 single base substitution A G intron_variant MELA-AU 7 38427122 38427122 single base substitution G A downstream_gene_variant MELA-AU 7 38427122 38427122 single base substitution G A intron_variant MELA-AU 7 38427194 38427194 single base substitution C T downstream_gene_variant MELA-AU 7 38427194 38427194 single base substitution C T intron_variant MELA-AU 7 38427364 38427364 single base substitution G A downstream_gene_variant MELA-AU 7 38427364 38427364 single base substitution G A intron_variant MELA-AU 7 38427516 38427516 single base substitution G A downstream_gene_variant MELA-AU 7 38427516 38427516 single base substitution G A intron_variant MELA-AU 7 38427730 38427730 single base substitution G A downstream_gene_variant MELA-AU 7 38427730 38427730 single base substitution G A intron_variant MELA-AU 7 38427810 38427810 single base substitution G A downstream_gene_variant MELA-AU 7 38427810 38427810 single base substitution G A intron_variant MELA-AU 7 38427824 38427824 single base substitution C T downstream_gene_variant MELA-AU 7 38427824 38427824 single base substitution C T intron_variant MELA-AU 7 38428134 38428134 single base substitution G A downstream_gene_variant MELA-AU 7 38428134 38428134 single base substitution G A intron_variant MELA-AU 7 38428418 38428418 single base substitution A T downstream_gene_variant MELA-AU 7 38428418 38428418 single base substitution A T intron_variant MELA-AU 7 38428460 38428460 single base substitution G A downstream_gene_variant MELA-AU 7 38428460 38428460 single base substitution G A intron_variant MELA-AU 7 38428483 38428483 single base substitution G A downstream_gene_variant MELA-AU 7 38428483 38428483 single base substitution G A intron_variant MELA-AU 7 38428886 38428886 single base substitution G A downstream_gene_variant MELA-AU 7 38428886 38428886 single base substitution G A intron_variant MELA-AU 7 38428962 38428962 single base substitution G A downstream_gene_variant MELA-AU 7 38428962 38428962 single base substitution G A intron_variant MELA-AU 7 38429337 38429337 single base substitution A T downstream_gene_variant MELA-AU 7 38429337 38429337 single base substitution A T intron_variant MELA-AU 7 38429472 38429472 single base substitution G T downstream_gene_variant MELA-AU 7 38429472 38429472 single base substitution G T exon_variant MELA-AU 7 38429472 38429472 single base substitution G T missense_variant S520Y 1559C>A MELA-AU 7 38429472 38429472 single base substitution G T missense_variant S596Y 1787C>A MELA-AU 7 38429472 38429472 single base substitution G T missense_variant S638Y 1913C>A MELA-AU 7 38429723 38429723 single base substitution G A downstream_gene_variant MELA-AU 7 38429723 38429723 single base substitution G A intron_variant MELA-AU 7 38430026 38430026 single base substitution C T downstream_gene_variant MELA-AU 7 38430026 38430026 single base substitution C T intron_variant MELA-AU 7 38430258 38430258 single base substitution C T downstream_gene_variant MELA-AU 7 38430258 38430258 single base substitution C T intron_variant MELA-AU 7 38430298 38430298 single base substitution G A downstream_gene_variant MELA-AU 7 38430298 38430298 single base substitution G A intron_variant MELA-AU 7 38430694 38430694 single base substitution C T downstream_gene_variant MELA-AU 7 38430694 38430694 single base substitution C T intron_variant MELA-AU 7 38430695 38430695 single base substitution C T downstream_gene_variant MELA-AU 7 38430695 38430695 single base substitution C T intron_variant MELA-AU 7 38430892 38430892 single base substitution G A downstream_gene_variant MELA-AU 7 38430892 38430892 single base substitution G A intron_variant MELA-AU 7 38431320 38431320 single base substitution G A downstream_gene_variant MELA-AU 7 38431320 38431320 single base substitution G A intron_variant MELA-AU 7 38431535 38431535 single base substitution C T downstream_gene_variant MELA-AU 7 38431535 38431535 single base substitution C T exon_variant MELA-AU 7 38431535 38431535 single base substitution C T synonymous_variant E446E 1338G>A MELA-AU 7 38431535 38431535 single base substitution C T synonymous_variant E522E 1566G>A MELA-AU 7 38431535 38431535 single base substitution C T synonymous_variant E564E 1692G>A MELA-AU 7 38431555 38431555 single base substitution C T downstream_gene_variant MELA-AU 7 38431555 38431555 single base substitution C T exon_variant MELA-AU 7 38431555 38431555 single base substitution C T missense_variant E440K 1318G>A MELA-AU 7 38431555 38431555 single base substitution C T missense_variant E516K 1546G>A MELA-AU 7 38431555 38431555 single base substitution C T missense_variant E558K 1672G>A MELA-AU 7 38431573 38431573 single base substitution C T downstream_gene_variant MELA-AU 7 38431573 38431573 single base substitution C T exon_variant MELA-AU 7 38431573 38431573 single base substitution C T missense_variant E434K 1300G>A MELA-AU 7 38431573 38431573 single base substitution C T missense_variant E510K 1528G>A MELA-AU 7 38431573 38431573 single base substitution C T missense_variant E552K 1654G>A MELA-AU 7 38431591 38431591 single base substitution C T 3_prime_UTR_variant MELA-AU 7 38431591 38431591 single base substitution C T downstream_gene_variant MELA-AU 7 38431591 38431591 single base substitution C T exon_variant MELA-AU 7 38431591 38431591 single base substitution C T missense_variant E428K 1282G>A MELA-AU 7 38431591 38431591 single base substitution C T missense_variant E504K 1510G>A MELA-AU 7 38431591 38431591 single base substitution C T missense_variant E546K 1636G>A MELA-AU 7 38431889 38431889 single base substitution G A downstream_gene_variant MELA-AU 7 38431889 38431889 single base substitution G A intron_variant MELA-AU 7 38431924 38431925 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 38431924 38431925 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 38431965 38431965 single base substitution G A downstream_gene_variant MELA-AU 7 38431965 38431965 single base substitution G A intron_variant MELA-AU 7 38432085 38432085 single base substitution G A downstream_gene_variant MELA-AU 7 38432085 38432085 single base substitution G A intron_variant MELA-AU 7 38432313 38432313 single base substitution G A downstream_gene_variant MELA-AU 7 38432313 38432313 single base substitution G A exon_variant MELA-AU 7 38432313 38432313 single base substitution G A intron_variant MELA-AU 7 38432346 38432346 single base substitution C T downstream_gene_variant MELA-AU 7 38432346 38432346 single base substitution C T intron_variant MELA-AU 7 38432346 38432346 single base substitution C T upstream_gene_variant MELA-AU 7 38432360 38432360 single base substitution C T downstream_gene_variant MELA-AU 7 38432360 38432360 single base substitution C T intron_variant MELA-AU 7 38432360 38432360 single base substitution C T upstream_gene_variant MELA-AU 7 38432414 38432414 single base substitution G A downstream_gene_variant MELA-AU 7 38432414 38432414 single base substitution G A intron_variant MELA-AU 7 38432414 38432414 single base substitution G A upstream_gene_variant MELA-AU 7 38432443 38432443 single base substitution C T downstream_gene_variant MELA-AU 7 38432443 38432443 single base substitution C T intron_variant MELA-AU 7 38432443 38432443 single base substitution C T upstream_gene_variant MELA-AU 7 38432451 38432451 single base substitution C T downstream_gene_variant MELA-AU 7 38432451 38432451 single base substitution C T intron_variant MELA-AU 7 38432451 38432451 single base substitution C T upstream_gene_variant MELA-AU 7 38432744 38432744 single base substitution A T downstream_gene_variant MELA-AU 7 38432744 38432744 single base substitution A T intron_variant MELA-AU 7 38432744 38432744 single base substitution A T upstream_gene_variant MELA-AU 7 38432762 38432762 single base substitution G A downstream_gene_variant MELA-AU 7 38432762 38432762 single base substitution G A intron_variant MELA-AU 7 38432762 38432762 single base substitution G A upstream_gene_variant MELA-AU 7 38432839 38432839 single base substitution G A downstream_gene_variant MELA-AU 7 38432839 38432839 single base substitution G A intron_variant MELA-AU 7 38432839 38432839 single base substitution G A upstream_gene_variant MELA-AU 7 38432904 38432904 single base substitution C T downstream_gene_variant MELA-AU 7 38432904 38432904 single base substitution C T intron_variant MELA-AU 7 38432904 38432904 single base substitution C T upstream_gene_variant MELA-AU 7 38432926 38432927 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 38432926 38432927 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 38432926 38432927 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 38432964 38432964 single base substitution G A downstream_gene_variant MELA-AU 7 38432964 38432964 single base substitution G A intron_variant MELA-AU 7 38432964 38432964 single base substitution G A upstream_gene_variant MELA-AU 7 38432970 38432970 single base substitution C T downstream_gene_variant MELA-AU 7 38432970 38432970 single base substitution C T intron_variant MELA-AU 7 38432970 38432970 single base substitution C T upstream_gene_variant MELA-AU 7 38433091 38433091 single base substitution G A downstream_gene_variant MELA-AU 7 38433091 38433091 single base substitution G A intron_variant MELA-AU 7 38433091 38433091 single base substitution G A upstream_gene_variant MELA-AU 7 38433092 38433092 single base substitution G A downstream_gene_variant MELA-AU 7 38433092 38433092 single base substitution G A intron_variant MELA-AU 7 38433092 38433092 single base substitution G A upstream_gene_variant MELA-AU 7 38433100 38433101 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 38433100 38433101 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 38433100 38433101 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 38433154 38433154 single base substitution G A downstream_gene_variant MELA-AU 7 38433154 38433154 single base substitution G A intron_variant MELA-AU 7 38433154 38433154 single base substitution G A upstream_gene_variant MELA-AU 7 38433307 38433307 single base substitution C T downstream_gene_variant MELA-AU 7 38433307 38433307 single base substitution C T intron_variant MELA-AU 7 38433307 38433307 single base substitution C T upstream_gene_variant MELA-AU 7 38433491 38433491 single base substitution A T downstream_gene_variant MELA-AU 7 38433491 38433491 single base substitution A T intron_variant MELA-AU 7 38433491 38433491 single base substitution A T upstream_gene_variant MELA-AU 7 38433573 38433573 single base substitution G A downstream_gene_variant MELA-AU 7 38433573 38433573 single base substitution G A intron_variant MELA-AU 7 38433573 38433573 single base substitution G A upstream_gene_variant MELA-AU 7 38433665 38433665 single base substitution G A 3_prime_UTR_variant MELA-AU 7 38433665 38433665 single base substitution G A downstream_gene_variant MELA-AU 7 38433665 38433665 single base substitution G A exon_variant MELA-AU 7 38433665 38433665 single base substitution G A synonymous_variant T398T 1194C>T MELA-AU 7 38433665 38433665 single base substitution G A synonymous_variant T474T 1422C>T MELA-AU 7 38433665 38433665 single base substitution G A synonymous_variant T516T 1548C>T MELA-AU 7 38433665 38433665 single base substitution G A upstream_gene_variant MELA-AU 7 38433944 38433944 single base substitution G A intron_variant MELA-AU 7 38433944 38433944 single base substitution G A upstream_gene_variant MELA-AU 7 38434069 38434069 single base substitution G A intron_variant MELA-AU 7 38434069 38434069 single base substitution G A upstream_gene_variant MELA-AU 7 38434123 38434123 single base substitution C T intron_variant MELA-AU 7 38434123 38434123 single base substitution C T upstream_gene_variant MELA-AU 7 38434478 38434478 single base substitution A T intron_variant MELA-AU 7 38434478 38434478 single base substitution A T upstream_gene_variant MELA-AU 7 38434479 38434479 single base substitution T C intron_variant MELA-AU 7 38434479 38434479 single base substitution T C upstream_gene_variant MELA-AU 7 38434485 38434485 single base substitution C T intron_variant MELA-AU 7 38434485 38434485 single base substitution C T upstream_gene_variant MELA-AU 7 38434543 38434543 single base substitution A C intron_variant MELA-AU 7 38434543 38434543 single base substitution A C upstream_gene_variant MELA-AU 7 38434842 38434842 single base substitution G A intron_variant MELA-AU 7 38434842 38434842 single base substitution G A upstream_gene_variant MELA-AU 7 38435030 38435030 single base substitution G A intron_variant MELA-AU 7 38435030 38435030 single base substitution G A upstream_gene_variant MELA-AU 7 38435066 38435066 single base substitution G A intron_variant MELA-AU 7 38435066 38435066 single base substitution G A upstream_gene_variant MELA-AU 7 38435139 38435139 single base substitution C T intron_variant MELA-AU 7 38435139 38435139 single base substitution C T upstream_gene_variant MELA-AU 7 38435209 38435209 single base substitution G A intron_variant MELA-AU 7 38435209 38435209 single base substitution G A upstream_gene_variant MELA-AU 7 38435276 38435276 single base substitution G A intron_variant MELA-AU 7 38435276 38435276 single base substitution G A upstream_gene_variant MELA-AU 7 38435428 38435428 single base substitution G A intron_variant MELA-AU 7 38435428 38435428 single base substitution G A upstream_gene_variant MELA-AU 7 38435559 38435559 single base substitution G A intron_variant MELA-AU 7 38435559 38435559 single base substitution G A upstream_gene_variant MELA-AU 7 38435815 38435815 single base substitution C T intron_variant MELA-AU 7 38435815 38435815 single base substitution C T upstream_gene_variant MELA-AU 7 38435830 38435830 single base substitution G A intron_variant MELA-AU 7 38435830 38435830 single base substitution G A upstream_gene_variant MELA-AU 7 38435859 38435859 single base substitution G A intron_variant MELA-AU 7 38435859 38435859 single base substitution G A upstream_gene_variant MELA-AU 7 38436259 38436259 single base substitution C T intron_variant MELA-AU 7 38436259 38436259 single base substitution C T upstream_gene_variant MELA-AU 7 38436412 38436412 single base substitution G A intron_variant MELA-AU 7 38436412 38436412 single base substitution G A upstream_gene_variant MELA-AU 7 38436997 38436997 single base substitution G A intron_variant MELA-AU 7 38436997 38436997 single base substitution G A upstream_gene_variant MELA-AU 7 38437071 38437071 single base substitution G A intron_variant MELA-AU 7 38437071 38437071 single base substitution G A upstream_gene_variant MELA-AU 7 38437114 38437114 single base substitution A T intron_variant MELA-AU 7 38437114 38437114 single base substitution A T upstream_gene_variant MELA-AU 7 38437165 38437165 single base substitution G A intron_variant MELA-AU 7 38437165 38437165 single base substitution G A upstream_gene_variant MELA-AU 7 38437166 38437166 single base substitution G A intron_variant MELA-AU 7 38437166 38437166 single base substitution G A upstream_gene_variant MELA-AU 7 38437176 38437176 single base substitution G A intron_variant MELA-AU 7 38437176 38437176 single base substitution G A upstream_gene_variant MELA-AU 7 38437226 38437226 single base substitution C T intron_variant MELA-AU 7 38437226 38437226 single base substitution C T upstream_gene_variant MELA-AU 7 38437541 38437541 single base substitution C T intron_variant MELA-AU 7 38437589 38437589 single base substitution C T intron_variant MELA-AU 7 38437880 38437880 single base substitution G A intron_variant MELA-AU 7 38438133 38438133 single base substitution A T intron_variant MELA-AU 7 38438237 38438237 single base substitution G A intron_variant MELA-AU 7 38438344 38438344 single base substitution A T intron_variant MELA-AU 7 38438630 38438630 single base substitution G A intron_variant MELA-AU 7 38438667 38438667 single base substitution C T intron_variant MELA-AU 7 38439109 38439109 single base substitution G A intron_variant MELA-AU 7 38439324 38439324 single base substitution G A intron_variant MELA-AU 7 38439415 38439415 single base substitution C T intron_variant MELA-AU 7 38439698 38439698 single base substitution G A intron_variant MELA-AU 7 38439764 38439764 single base substitution C T intron_variant MELA-AU 7 38439779 38439779 single base substitution G A intron_variant MELA-AU 7 38439876 38439876 single base substitution C T intron_variant MELA-AU 7 38439978 38439978 single base substitution C T intron_variant MELA-AU 7 38440238 38440238 single base substitution C T intron_variant MELA-AU 7 38440906 38440906 single base substitution G A intron_variant MELA-AU 7 38441308 38441308 single base substitution G A intron_variant MELA-AU 7 38441639 38441639 single base substitution A T intron_variant MELA-AU 7 38441823 38441823 single base substitution T G intron_variant MELA-AU 7 38442130 38442130 single base substitution C T intron_variant MELA-AU 7 38442138 38442138 single base substitution G A intron_variant MELA-AU 7 38442168 38442168 single base substitution C T intron_variant MELA-AU 7 38442316 38442316 single base substitution C T intron_variant MELA-AU 7 38442555 38442555 single base substitution G A intron_variant MELA-AU 7 38442616 38442616 single base substitution C T intron_variant MELA-AU 7 38442714 38442714 single base substitution G A intron_variant MELA-AU 7 38442817 38442817 single base substitution A T intron_variant MELA-AU 7 38442820 38442820 single base substitution G A intron_variant MELA-AU 7 38443121 38443121 single base substitution G A intron_variant MELA-AU 7 38443172 38443172 single base substitution C T intron_variant MELA-AU 7 38443196 38443196 single base substitution G A intron_variant MELA-AU 7 38443206 38443206 single base substitution G A intron_variant MELA-AU 7 38443273 38443273 single base substitution G A intron_variant MELA-AU 7 38443343 38443343 single base substitution G A intron_variant MELA-AU 7 38443372 38443372 single base substitution G A intron_variant MELA-AU 7 38443457 38443457 single base substitution T C intron_variant MELA-AU 7 38443571 38443572 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 7 38443597 38443597 single base substitution G A intron_variant MELA-AU 7 38443622 38443622 single base substitution G A intron_variant MELA-AU 7 38443669 38443669 single base substitution C T intron_variant MELA-AU 7 38443761 38443761 single base substitution G A intron_variant MELA-AU 7 38443904 38443904 single base substitution A G intron_variant MELA-AU 7 38444004 38444004 single base substitution C T intron_variant MELA-AU 7 38444043 38444043 single base substitution G A intron_variant MELA-AU 7 38444149 38444149 single base substitution C T intron_variant MELA-AU 7 38444215 38444215 single base substitution G A intron_variant MELA-AU 7 38444288 38444288 single base substitution C T intron_variant MELA-AU 7 38444295 38444295 single base substitution G A intron_variant MELA-AU 7 38444345 38444345 single base substitution A G intron_variant MELA-AU 7 38444371 38444371 single base substitution C T intron_variant MELA-AU 7 38444745 38444745 single base substitution C T intron_variant MELA-AU 7 38444830 38444830 single base substitution G A intron_variant MELA-AU 7 38445005 38445005 single base substitution G A intron_variant MELA-AU 7 38445013 38445013 single base substitution G A intron_variant MELA-AU 7 38445101 38445101 single base substitution G A intron_variant MELA-AU 7 38445124 38445124 single base substitution G A intron_variant MELA-AU 7 38445373 38445373 single base substitution G A intron_variant MELA-AU 7 38445408 38445408 single base substitution G A intron_variant MELA-AU 7 38445690 38445690 single base substitution G A intron_variant MELA-AU 7 38445800 38445801 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 38446449 38446449 single base substitution G A intron_variant MELA-AU 7 38446894 38446894 single base substitution G T intron_variant MELA-AU 7 38446919 38446919 single base substitution G A intron_variant MELA-AU 7 38446931 38446931 single base substitution G A intron_variant MELA-AU 7 38446953 38446953 single base substitution T C intron_variant MELA-AU 7 38446957 38446957 single base substitution C T intron_variant MELA-AU 7 38447457 38447457 single base substitution G A intron_variant MELA-AU 7 38447546 38447546 single base substitution G A intron_variant MELA-AU 7 38447660 38447660 single base substitution A C intron_variant MELA-AU 7 38447798 38447798 single base substitution G A intron_variant MELA-AU 7 38448144 38448144 single base substitution G A intron_variant MELA-AU 7 38448513 38448513 single base substitution C T intron_variant MELA-AU 7 38448619 38448620 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 38448900 38448900 single base substitution G A intron_variant MELA-AU 7 38448971 38448971 single base substitution C T intron_variant MELA-AU 7 38449022 38449022 single base substitution G A intron_variant MELA-AU 7 38449120 38449120 single base substitution C T intron_variant MELA-AU 7 38449415 38449415 single base substitution G A intron_variant MELA-AU 7 38449532 38449532 single base substitution G A intron_variant MELA-AU 7 38449588 38449588 single base substitution G A intron_variant MELA-AU 7 38449682 38449682 single base substitution G A intron_variant MELA-AU 7 38449698 38449698 single base substitution G A intron_variant MELA-AU 7 38449742 38449742 single base substitution G A intron_variant MELA-AU 7 38449864 38449864 single base substitution G A intron_variant MELA-AU 7 38450198 38450198 single base substitution A T intron_variant MELA-AU 7 38450270 38450270 single base substitution G A intron_variant MELA-AU 7 38450275 38450275 single base substitution A C intron_variant MELA-AU 7 38450341 38450341 single base substitution T C intron_variant MELA-AU 7 38450385 38450385 single base substitution G A intron_variant MELA-AU 7 38450799 38450799 single base substitution C T intron_variant MELA-AU 7 38450867 38450867 single base substitution G A intron_variant MELA-AU 7 38450977 38450977 single base substitution G A intron_variant MELA-AU 7 38451009 38451009 single base substitution G A intron_variant MELA-AU 7 38451112 38451112 single base substitution C T intron_variant MELA-AU 7 38451124 38451124 single base substitution G A intron_variant MELA-AU 7 38451218 38451218 single base substitution C T intron_variant MELA-AU 7 38451486 38451486 single base substitution C A intron_variant MELA-AU 7 38451725 38451725 single base substitution T A intron_variant MELA-AU 7 38451750 38451750 single base substitution G A intron_variant MELA-AU 7 38451761 38451761 single base substitution G A intron_variant MELA-AU 7 38451985 38451985 single base substitution A G intron_variant MELA-AU 7 38452061 38452061 single base substitution G A intron_variant MELA-AU 7 38452068 38452068 single base substitution C T intron_variant MELA-AU 7 38452145 38452145 single base substitution C T intron_variant MELA-AU 7 38452195 38452195 single base substitution G A intron_variant MELA-AU 7 38452442 38452442 single base substitution C T intron_variant MELA-AU 7 38452499 38452499 single base substitution G A intron_variant MELA-AU 7 38452499 38452499 single base substitution G C intron_variant MELA-AU 7 38452543 38452543 single base substitution G A intron_variant MELA-AU 7 38452810 38452810 single base substitution G A intron_variant MELA-AU 7 38452835 38452835 single base substitution A C intron_variant MELA-AU 7 38452948 38452948 deletion of <=200bp A - intron_variant MELA-AU 7 38453035 38453035 single base substitution C T intron_variant MELA-AU 7 38453105 38453105 single base substitution G A intron_variant MELA-AU 7 38453202 38453202 single base substitution G A intron_variant MELA-AU 7 38453552 38453552 single base substitution G A intron_variant MELA-AU 7 38453663 38453663 single base substitution G A intron_variant MELA-AU 7 38453932 38453932 single base substitution C T intron_variant MELA-AU 7 38454106 38454106 single base substitution G A intron_variant MELA-AU 7 38454109 38454109 single base substitution G A intron_variant MELA-AU 7 38454132 38454132 single base substitution A G intron_variant MELA-AU 7 38454155 38454155 single base substitution C T intron_variant MELA-AU 7 38454249 38454249 single base substitution G A intron_variant MELA-AU 7 38454313 38454313 single base substitution G A intron_variant MELA-AU 7 38454407 38454407 single base substitution G A intron_variant MELA-AU 7 38454461 38454461 single base substitution A C intron_variant MELA-AU 7 38454570 38454570 single base substitution C T intron_variant MELA-AU 7 38454636 38454636 single base substitution A G intron_variant MELA-AU 7 38454689 38454689 single base substitution T C intron_variant MELA-AU 7 38454726 38454726 single base substitution A T intron_variant MELA-AU 7 38454901 38454901 single base substitution G A intron_variant MELA-AU 7 38455105 38455105 single base substitution G A intron_variant MELA-AU 7 38455217 38455217 single base substitution G A intron_variant MELA-AU 7 38455229 38455229 single base substitution G A intron_variant MELA-AU 7 38455232 38455232 single base substitution A G intron_variant MELA-AU 7 38455465 38455465 single base substitution C T intron_variant MELA-AU 7 38455552 38455552 single base substitution G A intron_variant MELA-AU 7 38455794 38455794 single base substitution C T intron_variant MELA-AU 7 38455885 38455885 single base substitution G A intron_variant MELA-AU 7 38456090 38456090 single base substitution G A intron_variant MELA-AU 7 38456217 38456217 single base substitution G A intron_variant MELA-AU 7 38456238 38456238 single base substitution C T intron_variant MELA-AU 7 38456660 38456660 single base substitution G A intron_variant MELA-AU 7 38456690 38456690 single base substitution C T intron_variant MELA-AU 7 38456956 38456956 single base substitution G A intron_variant MELA-AU 7 38457424 38457424 single base substitution C T intron_variant MELA-AU 7 38457424 38457424 single base substitution C T splice_donor_variant MELA-AU 7 38457508 38457508 single base substitution C T exon_variant MELA-AU 7 38457508 38457508 single base substitution C T intron_variant MELA-AU 7 38457508 38457508 single base substitution C T missense_variant E439K 1315G>A MELA-AU 7 38457579 38457579 single base substitution G A exon_variant MELA-AU 7 38457579 38457579 single base substitution G A intron_variant MELA-AU 7 38457667 38457667 single base substitution G A intron_variant MELA-AU 7 38457667 38457667 single base substitution G A upstream_gene_variant MELA-AU 7 38457903 38457903 single base substitution C A intron_variant MELA-AU 7 38457903 38457903 single base substitution C A upstream_gene_variant MELA-AU 7 38458238 38458238 single base substitution C T intron_variant MELA-AU 7 38458238 38458238 single base substitution C T upstream_gene_variant MELA-AU 7 38458563 38458563 single base substitution C T intron_variant MELA-AU 7 38458563 38458563 single base substitution C T upstream_gene_variant MELA-AU 7 38458656 38458656 single base substitution C T intron_variant MELA-AU 7 38458656 38458656 single base substitution C T upstream_gene_variant MELA-AU 7 38458970 38458970 single base substitution G A intron_variant MELA-AU 7 38458970 38458970 single base substitution G A upstream_gene_variant MELA-AU 7 38459226 38459226 single base substitution T C intron_variant MELA-AU 7 38459226 38459226 single base substitution T C upstream_gene_variant MELA-AU 7 38459233 38459233 single base substitution G T intron_variant MELA-AU 7 38459233 38459233 single base substitution G T upstream_gene_variant MELA-AU 7 38459255 38459255 single base substitution A T intron_variant MELA-AU 7 38459255 38459255 single base substitution A T upstream_gene_variant MELA-AU 7 38459308 38459308 single base substitution G A intron_variant MELA-AU 7 38459308 38459308 single base substitution G A upstream_gene_variant MELA-AU 7 38459326 38459326 single base substitution G A intron_variant MELA-AU 7 38459326 38459326 single base substitution G A upstream_gene_variant MELA-AU 7 38459355 38459355 single base substitution C T intron_variant MELA-AU 7 38459355 38459355 single base substitution C T upstream_gene_variant MELA-AU 7 38459385 38459385 single base substitution G A intron_variant MELA-AU 7 38459385 38459385 single base substitution G A upstream_gene_variant MELA-AU 7 38459721 38459721 single base substitution T C intron_variant MELA-AU 7 38459721 38459721 single base substitution T C upstream_gene_variant MELA-AU 7 38459905 38459905 single base substitution G A intron_variant MELA-AU 7 38459905 38459905 single base substitution G A upstream_gene_variant MELA-AU 7 38459988 38459988 single base substitution G A intron_variant MELA-AU 7 38459988 38459988 single base substitution G A upstream_gene_variant MELA-AU 7 38460477 38460477 single base substitution G A intron_variant MELA-AU 7 38460477 38460477 single base substitution G A upstream_gene_variant MELA-AU 7 38460506 38460506 single base substitution C T intron_variant MELA-AU 7 38460506 38460506 single base substitution C T splice_region_variant MELA-AU 7 38460506 38460506 single base substitution C T upstream_gene_variant MELA-AU 7 38460564 38460564 single base substitution G A 3_prime_UTR_variant MELA-AU 7 38460564 38460564 single base substitution G A intron_variant MELA-AU 7 38460564 38460564 single base substitution G A upstream_gene_variant MELA-AU 7 38460717 38460717 single base substitution G A intron_variant MELA-AU 7 38460717 38460717 single base substitution G A upstream_gene_variant MELA-AU 7 38461258 38461258 single base substitution G A intron_variant MELA-AU 7 38461258 38461258 single base substitution G A upstream_gene_variant MELA-AU 7 38461328 38461328 single base substitution G A intron_variant MELA-AU 7 38461328 38461328 single base substitution G A upstream_gene_variant MELA-AU 7 38461349 38461349 single base substitution A G intron_variant MELA-AU 7 38461349 38461349 single base substitution A G upstream_gene_variant MELA-AU 7 38461530 38461530 single base substitution C G intron_variant MELA-AU 7 38461530 38461530 single base substitution C G upstream_gene_variant MELA-AU 7 38461546 38461546 single base substitution C T intron_variant MELA-AU 7 38461546 38461546 single base substitution C T upstream_gene_variant MELA-AU 7 38461706 38461706 single base substitution C A intron_variant MELA-AU 7 38461706 38461706 single base substitution C A upstream_gene_variant MELA-AU 7 38461742 38461742 single base substitution G A intron_variant MELA-AU 7 38461742 38461742 single base substitution G A upstream_gene_variant MELA-AU 7 38462203 38462203 single base substitution C T intron_variant MELA-AU 7 38462203 38462203 single base substitution C T upstream_gene_variant MELA-AU 7 38462439 38462439 single base substitution C T intron_variant MELA-AU 7 38462439 38462439 single base substitution C T upstream_gene_variant MELA-AU 7 38462501 38462501 single base substitution G A intron_variant MELA-AU 7 38462501 38462501 single base substitution G A upstream_gene_variant MELA-AU 7 38462878 38462878 single base substitution G A intron_variant MELA-AU 7 38462879 38462879 single base substitution G A intron_variant MELA-AU 7 38462976 38462976 single base substitution C T intron_variant MELA-AU 7 38463377 38463377 single base substitution T C intron_variant MELA-AU 7 38463719 38463719 single base substitution G A intron_variant MELA-AU 7 38463777 38463777 single base substitution G A intron_variant MELA-AU 7 38463781 38463781 single base substitution G C intron_variant MELA-AU 7 38464107 38464107 single base substitution A G intron_variant MELA-AU 7 38464139 38464139 single base substitution G A intron_variant MELA-AU 7 38464244 38464244 single base substitution G A intron_variant MELA-AU 7 38464299 38464299 single base substitution C T intron_variant MELA-AU 7 38464428 38464428 single base substitution G A intron_variant MELA-AU 7 38464492 38464492 single base substitution T C intron_variant MELA-AU 7 38465026 38465026 single base substitution C T intron_variant MELA-AU 7 38465055 38465055 single base substitution G A intron_variant MELA-AU 7 38465227 38465227 single base substitution G A intron_variant MELA-AU 7 38465419 38465419 single base substitution G A intron_variant MELA-AU 7 38465644 38465644 single base substitution G A intron_variant MELA-AU 7 38466599 38466599 single base substitution G A intron_variant MELA-AU 7 38466721 38466721 single base substitution G A intron_variant MELA-AU 7 38466907 38466907 single base substitution C T intron_variant MELA-AU 7 38466981 38466981 single base substitution G A intron_variant MELA-AU 7 38467380 38467380 single base substitution G A intron_variant MELA-AU 7 38467441 38467441 single base substitution G A exon_variant MELA-AU 7 38467441 38467441 single base substitution G A intron_variant MELA-AU 7 38467603 38467603 single base substitution C T exon_variant MELA-AU 7 38467603 38467603 single base substitution C T intron_variant MELA-AU 7 38467622 38467622 single base substitution C T exon_variant MELA-AU 7 38467622 38467622 single base substitution C T intron_variant MELA-AU 7 38468287 38468287 single base substitution G A exon_variant MELA-AU 7 38468287 38468287 single base substitution G A intron_variant MELA-AU 7 38468350 38468350 single base substitution C T exon_variant MELA-AU 7 38468350 38468350 single base substitution C T intron_variant MELA-AU 7 38468350 38468350 single base substitution C T splice_region_variant MELA-AU 7 38468443 38468443 single base substitution C T exon_variant MELA-AU 7 38468443 38468443 single base substitution C T intron_variant MELA-AU 7 38468482 38468482 single base substitution C T exon_variant MELA-AU 7 38468482 38468482 single base substitution C T intron_variant MELA-AU 7 38468536 38468536 single base substitution G A exon_variant MELA-AU 7 38468536 38468536 single base substitution G A intron_variant MELA-AU 7 38468541 38468541 single base substitution C T exon_variant MELA-AU 7 38468541 38468541 single base substitution C T intron_variant MELA-AU 7 38468622 38468622 single base substitution C T exon_variant MELA-AU 7 38468622 38468622 single base substitution C T intron_variant MELA-AU 7 38468880 38468880 single base substitution C T exon_variant MELA-AU 7 38468880 38468880 single base substitution C T intron_variant MELA-AU 7 38468880 38468880 single base substitution C T missense_variant G244R 730G>A MELA-AU 7 38468968 38468968 single base substitution T G intron_variant MELA-AU 7 38468968 38468968 single base substitution T G synonymous_variant I214I 642A>C MELA-AU 7 38468968 38468968 single base substitution T G upstream_gene_variant MELA-AU 7 38469041 38469041 single base substitution C T intron_variant MELA-AU 7 38469041 38469041 single base substitution C T missense_variant R190K 569G>A MELA-AU 7 38469041 38469041 single base substitution C T upstream_gene_variant MELA-AU 7 38469103 38469103 single base substitution T G intron_variant MELA-AU 7 38469103 38469103 single base substitution T G missense_variant E169D 507A>C MELA-AU 7 38469103 38469103 single base substitution T G upstream_gene_variant MELA-AU 7 38469274 38469274 single base substitution G A intron_variant MELA-AU 7 38469274 38469274 single base substitution G A upstream_gene_variant MELA-AU 7 38469324 38469325 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 7 38469324 38469325 multiple base substitution (>=2bp and <=200bp) AG TA upstream_gene_variant MELA-AU 7 38469423 38469423 single base substitution G A intron_variant MELA-AU 7 38469423 38469423 single base substitution G A upstream_gene_variant MELA-AU 7 38469618 38469618 single base substitution G A exon_variant MELA-AU 7 38469618 38469618 single base substitution G A intron_variant MELA-AU 7 38469618 38469618 single base substitution G A upstream_gene_variant MELA-AU 7 38469869 38469869 single base substitution C T intron_variant MELA-AU 7 38469869 38469869 single base substitution C T upstream_gene_variant MELA-AU 7 38469922 38469922 single base substitution G A intron_variant MELA-AU 7 38469922 38469922 single base substitution G A upstream_gene_variant MELA-AU 7 38470143 38470143 single base substitution G A intron_variant MELA-AU 7 38470143 38470143 single base substitution G A upstream_gene_variant MELA-AU 7 38470177 38470177 single base substitution G A intron_variant MELA-AU 7 38470177 38470177 single base substitution G A upstream_gene_variant MELA-AU 7 38470182 38470182 single base substitution G A intron_variant MELA-AU 7 38470182 38470182 single base substitution G A upstream_gene_variant MELA-AU 7 38470258 38470258 single base substitution G A intron_variant MELA-AU 7 38470258 38470258 single base substitution G A upstream_gene_variant MELA-AU 7 38470298 38470298 single base substitution G A intron_variant MELA-AU 7 38470298 38470298 single base substitution G A upstream_gene_variant MELA-AU 7 38470594 38470594 single base substitution G A intron_variant MELA-AU 7 38470594 38470594 single base substitution G A upstream_gene_variant MELA-AU 7 38470660 38470660 single base substitution C T intron_variant MELA-AU 7 38470660 38470660 single base substitution C T upstream_gene_variant MELA-AU 7 38470774 38470774 single base substitution G A intron_variant MELA-AU 7 38470774 38470774 single base substitution G A upstream_gene_variant MELA-AU 7 38471038 38471039 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 7 38471038 38471039 multiple base substitution (>=2bp and <=200bp) AC TT upstream_gene_variant MELA-AU 7 38471192 38471192 single base substitution C T intron_variant MELA-AU 7 38471192 38471192 single base substitution C T upstream_gene_variant MELA-AU 7 38471327 38471327 single base substitution C T intron_variant MELA-AU 7 38471327 38471327 single base substitution C T upstream_gene_variant MELA-AU 7 38471362 38471362 single base substitution T C intron_variant MELA-AU 7 38471362 38471362 single base substitution T C upstream_gene_variant MELA-AU 7 38471498 38471498 single base substitution C T intron_variant MELA-AU 7 38471498 38471498 single base substitution C T upstream_gene_variant MELA-AU 7 38471582 38471582 single base substitution G A intron_variant MELA-AU 7 38471582 38471582 single base substitution G A upstream_gene_variant MELA-AU 7 38471765 38471765 single base substitution A C intron_variant MELA-AU 7 38471765 38471765 single base substitution A C upstream_gene_variant MELA-AU 7 38471955 38471955 single base substitution G A intron_variant MELA-AU 7 38471955 38471955 single base substitution G A upstream_gene_variant MELA-AU 7 38471977 38471977 single base substitution A G intron_variant MELA-AU 7 38471977 38471977 single base substitution A G upstream_gene_variant MELA-AU 7 38472966 38472966 single base substitution G A intron_variant MELA-AU 7 38472966 38472966 single base substitution G A upstream_gene_variant MELA-AU 7 38472970 38472970 single base substitution C A intron_variant MELA-AU 7 38472970 38472970 single base substitution C A upstream_gene_variant MELA-AU 7 38473427 38473427 single base substitution A C intron_variant MELA-AU 7 38473427 38473427 single base substitution A C upstream_gene_variant MELA-AU 7 38473625 38473625 deletion of <=200bp T - intron_variant MELA-AU 7 38473625 38473625 deletion of <=200bp T - upstream_gene_variant MELA-AU 7 38473719 38473719 single base substitution G A intron_variant MELA-AU 7 38473719 38473719 single base substitution G A upstream_gene_variant MELA-AU 7 38473733 38473733 single base substitution G A intron_variant MELA-AU 7 38473733 38473733 single base substitution G A upstream_gene_variant MELA-AU 7 38473975 38473975 single base substitution G A intron_variant MELA-AU 7 38473975 38473975 single base substitution G A upstream_gene_variant MELA-AU 7 38474199 38474199 single base substitution C T intron_variant MELA-AU 7 38474199 38474199 single base substitution C T upstream_gene_variant MELA-AU 7 38474221 38474221 single base substitution C T intron_variant MELA-AU 7 38474221 38474221 single base substitution C T upstream_gene_variant MELA-AU 7 38474231 38474231 single base substitution C T intron_variant MELA-AU 7 38474231 38474231 single base substitution C T upstream_gene_variant MELA-AU 7 38474310 38474310 single base substitution G A intron_variant MELA-AU 7 38474310 38474310 single base substitution G A upstream_gene_variant MELA-AU 7 38474393 38474393 single base substitution A G intron_variant MELA-AU 7 38474393 38474393 single base substitution A G upstream_gene_variant MELA-AU 7 38474425 38474425 single base substitution C T intron_variant MELA-AU 7 38474425 38474425 single base substitution C T upstream_gene_variant MELA-AU 7 38474674 38474674 single base substitution C T intron_variant MELA-AU 7 38474698 38474698 single base substitution G A intron_variant MELA-AU 7 38475005 38475005 single base substitution G C intron_variant MELA-AU 7 38475157 38475157 single base substitution A G intron_variant MELA-AU 7 38475379 38475379 single base substitution G A intron_variant MELA-AU 7 38475413 38475413 single base substitution G A intron_variant MELA-AU 7 38475496 38475496 single base substitution G A intron_variant MELA-AU 7 38475509 38475509 single base substitution G A intron_variant MELA-AU 7 38475641 38475641 single base substitution G A intron_variant MELA-AU 7 38475649 38475650 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 7 38475739 38475739 single base substitution C T intron_variant MELA-AU 7 38475747 38475747 single base substitution G A intron_variant MELA-AU 7 38475837 38475837 single base substitution G A intron_variant MELA-AU 7 38475922 38475922 single base substitution C T missense_variant E112K 334G>A MELA-AU 7 38475922 38475922 single base substitution C T missense_variant E362K 1084G>A MELA-AU 7 38475934 38475934 single base substitution G A missense_variant P108S 322C>T MELA-AU 7 38475934 38475934 single base substitution G A missense_variant P358S 1072C>T MELA-AU 7 38475943 38475943 single base substitution C T missense_variant D105N 313G>A MELA-AU 7 38475943 38475943 single base substitution C T missense_variant D355N 1063G>A MELA-AU 7 38476236 38476236 single base substitution C T intron_variant MELA-AU 7 38476337 38476337 single base substitution G A intron_variant MELA-AU 7 38476475 38476475 single base substitution G A intron_variant MELA-AU 7 38476704 38476704 single base substitution C T intron_variant MELA-AU 7 38476766 38476766 single base substitution G A intron_variant MELA-AU 7 38477090 38477090 single base substitution G A intron_variant MELA-AU 7 38477182 38477182 single base substitution C T intron_variant MELA-AU 7 38477358 38477358 single base substitution C T intron_variant MELA-AU 7 38477611 38477611 single base substitution C T intron_variant MELA-AU 7 38477656 38477656 single base substitution A G intron_variant MELA-AU 7 38478049 38478050 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 38478174 38478174 single base substitution C T intron_variant MELA-AU 7 38478214 38478214 single base substitution G A intron_variant MELA-AU 7 38478283 38478283 single base substitution C T intron_variant MELA-AU 7 38478667 38478667 single base substitution A G intron_variant MELA-AU 7 38478866 38478866 single base substitution G A intron_variant MELA-AU 7 38478993 38478993 single base substitution C T intron_variant MELA-AU 7 38479047 38479047 single base substitution A G intron_variant MELA-AU 7 38479112 38479112 single base substitution G A intron_variant MELA-AU 7 38479205 38479205 single base substitution G A intron_variant MELA-AU 7 38479312 38479312 single base substitution G A intron_variant MELA-AU 7 38479554 38479554 single base substitution C T intron_variant MELA-AU 7 38479915 38479915 single base substitution C T intron_variant MELA-AU 7 38479949 38479949 single base substitution G A intron_variant MELA-AU 7 38480019 38480019 single base substitution G T intron_variant MELA-AU 7 38480028 38480028 single base substitution C T intron_variant MELA-AU 7 38480538 38480538 single base substitution G A intron_variant MELA-AU 7 38480902 38480902 single base substitution C T intron_variant MELA-AU 7 38480927 38480927 single base substitution G A intron_variant MELA-AU 7 38481309 38481309 single base substitution G A intron_variant MELA-AU 7 38481330 38481330 single base substitution G A intron_variant MELA-AU 7 38481361 38481361 single base substitution C T intron_variant MELA-AU 7 38481368 38481368 single base substitution A C intron_variant MELA-AU 7 38481370 38481370 single base substitution G C intron_variant MELA-AU 7 38481451 38481451 single base substitution C T intron_variant MELA-AU 7 38481509 38481509 single base substitution G A intron_variant MELA-AU 7 38481554 38481554 single base substitution G A intron_variant MELA-AU 7 38481670 38481670 single base substitution A G intron_variant MELA-AU 7 38481719 38481719 single base substitution G A intron_variant MELA-AU 7 38481838 38481838 single base substitution C T intron_variant MELA-AU 7 38481959 38481959 single base substitution C T intron_variant MELA-AU 7 38482165 38482165 single base substitution G A intron_variant MELA-AU 7 38482372 38482372 single base substitution C T intron_variant MELA-AU 7 38482434 38482434 single base substitution G A intron_variant MELA-AU 7 38482738 38482738 single base substitution C T intron_variant MELA-AU 7 38482958 38482958 single base substitution C T intron_variant MELA-AU 7 38483254 38483254 single base substitution C T intron_variant MELA-AU 7 38483289 38483289 single base substitution A G intron_variant MELA-AU 7 38483405 38483405 single base substitution T C intron_variant MELA-AU 7 38483441 38483441 single base substitution G A intron_variant MELA-AU 7 38483520 38483520 single base substitution G A intron_variant MELA-AU 7 38483896 38483896 single base substitution C T intron_variant MELA-AU 7 38484037 38484037 single base substitution G A intron_variant MELA-AU 7 38484176 38484176 single base substitution G A intron_variant MELA-AU 7 38484242 38484242 single base substitution G T intron_variant MELA-AU 7 38484757 38484757 single base substitution C T intron_variant MELA-AU 7 38484807 38484807 single base substitution G A intron_variant MELA-AU 7 38485019 38485019 single base substitution G A intron_variant MELA-AU 7 38485153 38485153 single base substitution C T intron_variant MELA-AU 7 38485723 38485723 single base substitution C T intron_variant MELA-AU 7 38485848 38485848 single base substitution C T intron_variant MELA-AU 7 38485904 38485904 single base substitution C T intron_variant MELA-AU 7 38486018 38486018 single base substitution C T intron_variant MELA-AU 7 38486244 38486244 single base substitution A T intron_variant MELA-AU 7 38486516 38486516 single base substitution A G intron_variant MELA-AU 7 38486700 38486700 single base substitution A G intron_variant MELA-AU 7 38486925 38486925 single base substitution C T intron_variant MELA-AU 7 38486942 38486942 single base substitution G A intron_variant MELA-AU 7 38487229 38487229 single base substitution G A intron_variant MELA-AU 7 38487912 38487912 single base substitution T C intron_variant MELA-AU 7 38488126 38488126 single base substitution G A intron_variant MELA-AU 7 38488723 38488723 single base substitution C T intron_variant MELA-AU 7 38488882 38488882 single base substitution C T intron_variant MELA-AU 7 38488945 38488945 single base substitution G A intron_variant MELA-AU 7 38489231 38489231 single base substitution G A intron_variant MELA-AU 7 38489602 38489602 single base substitution G A intron_variant MELA-AU 7 38489748 38489748 single base substitution G A intron_variant MELA-AU 7 38489942 38489942 single base substitution A G intron_variant MELA-AU 7 38490042 38490042 single base substitution C T intron_variant MELA-AU 7 38490245 38490245 single base substitution C T intron_variant MELA-AU 7 38490248 38490248 single base substitution G A intron_variant MELA-AU 7 38490584 38490584 single base substitution G A intron_variant MELA-AU 7 38491188 38491188 single base substitution T A intron_variant MELA-AU 7 38491192 38491192 single base substitution T A intron_variant MELA-AU 7 38491275 38491275 single base substitution G A intron_variant MELA-AU 7 38492098 38492098 single base substitution C T intron_variant MELA-AU 7 38492126 38492126 single base substitution G A intron_variant MELA-AU 7 38492487 38492487 single base substitution G A intron_variant MELA-AU 7 38492614 38492614 single base substitution C T intron_variant MELA-AU 7 38492718 38492718 single base substitution C T intron_variant MELA-AU 7 38492754 38492754 single base substitution C T intron_variant MELA-AU 7 38492799 38492799 single base substitution G A intron_variant MELA-AU 7 38492841 38492841 single base substitution A C intron_variant MELA-AU 7 38492897 38492897 single base substitution T G intron_variant MELA-AU 7 38492947 38492947 single base substitution G A intron_variant MELA-AU 7 38493404 38493404 single base substitution C T intron_variant MELA-AU 7 38493539 38493539 single base substitution G A intron_variant MELA-AU 7 38493664 38493664 single base substitution G A intron_variant MELA-AU 7 38493683 38493683 single base substitution G A intron_variant MELA-AU 7 38494351 38494351 single base substitution T A intron_variant MELA-AU 7 38494358 38494358 single base substitution G A intron_variant MELA-AU 7 38494507 38494507 single base substitution G A intron_variant MELA-AU 7 38494806 38494806 single base substitution G T intron_variant MELA-AU 7 38494890 38494890 single base substitution C T intron_variant MELA-AU 7 38494988 38494989 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 38495146 38495146 single base substitution G A intron_variant MELA-AU 7 38495286 38495286 single base substitution G A intron_variant MELA-AU 7 38495522 38495522 single base substitution G A intron_variant MELA-AU 7 38495640 38495640 single base substitution C T intron_variant MELA-AU 7 38495908 38495908 single base substitution G A intron_variant MELA-AU 7 38496435 38496435 single base substitution G A intron_variant MELA-AU 7 38496750 38496750 single base substitution G A intron_variant MELA-AU 7 38496797 38496797 single base substitution G A intron_variant MELA-AU 7 38496929 38496929 single base substitution G A intron_variant MELA-AU 7 38496969 38496969 single base substitution G A intron_variant MELA-AU 7 38497126 38497126 single base substitution G A intron_variant MELA-AU 7 38497179 38497179 single base substitution G A intron_variant MELA-AU 7 38497434 38497434 single base substitution G A intron_variant MELA-AU 7 38497681 38497681 single base substitution G A intron_variant MELA-AU 7 38497936 38497936 single base substitution G A intron_variant MELA-AU 7 38498093 38498093 single base substitution A T intron_variant MELA-AU 7 38498290 38498290 single base substitution G A intron_variant MELA-AU 7 38498297 38498297 single base substitution G T intron_variant MELA-AU 7 38498502 38498502 single base substitution C T intron_variant MELA-AU 7 38498574 38498574 single base substitution G A intron_variant MELA-AU 7 38498835 38498835 single base substitution G A intron_variant MELA-AU 7 38498931 38498931 single base substitution A G intron_variant MELA-AU 7 38498946 38498946 single base substitution C T intron_variant MELA-AU 7 38499140 38499140 single base substitution C T intron_variant MELA-AU 7 38499246 38499246 single base substitution G A intron_variant MELA-AU 7 38499357 38499357 single base substitution G A intron_variant MELA-AU 7 38499404 38499404 single base substitution C T intron_variant MELA-AU 7 38499521 38499521 single base substitution G A intron_variant MELA-AU 7 38499818 38499818 single base substitution G A intron_variant MELA-AU 7 38500012 38500012 single base substitution G A intron_variant MELA-AU 7 38500131 38500131 single base substitution G A intron_variant MELA-AU 7 38500328 38500328 single base substitution G A intron_variant MELA-AU 7 38500654 38500654 single base substitution A T intron_variant MELA-AU 7 38500800 38500800 single base substitution G A intron_variant MELA-AU 7 38500912 38500912 single base substitution G A missense_variant P330S 988C>T MELA-AU 7 38500912 38500912 single base substitution G A missense_variant P80S 238C>T MELA-AU 7 38501360 38501360 single base substitution G A intron_variant MELA-AU 7 38501411 38501411 single base substitution G A intron_variant MELA-AU 7 38502086 38502086 single base substitution C T intron_variant MELA-AU 7 38502394 38502394 single base substitution C G intron_variant MELA-AU 7 38502465 38502465 single base substitution C T intron_variant MELA-AU 7 38503637 38503637 single base substitution G A intron_variant MELA-AU 7 38503637 38503637 single base substitution G A upstream_gene_variant MELA-AU 7 38503908 38503908 single base substitution C T intron_variant MELA-AU 7 38503908 38503908 single base substitution C T upstream_gene_variant MELA-AU 7 38504251 38504251 single base substitution T C intron_variant MELA-AU 7 38504251 38504251 single base substitution T C upstream_gene_variant MELA-AU 7 38504281 38504281 single base substitution A T intron_variant MELA-AU 7 38504281 38504281 single base substitution A T upstream_gene_variant MELA-AU 7 38504300 38504300 single base substitution G A intron_variant MELA-AU 7 38504300 38504300 single base substitution G A upstream_gene_variant MELA-AU 7 38504356 38504356 single base substitution A G intron_variant MELA-AU 7 38504356 38504356 single base substitution A G upstream_gene_variant MELA-AU 7 38504723 38504723 single base substitution C T intron_variant MELA-AU 7 38504723 38504723 single base substitution C T upstream_gene_variant MELA-AU 7 38504730 38504730 single base substitution G A intron_variant MELA-AU 7 38504730 38504730 single base substitution G A upstream_gene_variant MELA-AU 7 38504822 38504822 single base substitution G A intron_variant MELA-AU 7 38504822 38504822 single base substitution G A upstream_gene_variant MELA-AU 7 38505033 38505033 single base substitution G A intron_variant MELA-AU 7 38505033 38505033 single base substitution G A upstream_gene_variant MELA-AU 7 38505409 38505409 single base substitution G A intron_variant MELA-AU 7 38505409 38505409 single base substitution G A upstream_gene_variant MELA-AU 7 38506425 38506425 single base substitution G A intron_variant MELA-AU 7 38506425 38506425 single base substitution G A upstream_gene_variant MELA-AU 7 38506568 38506568 single base substitution G A intron_variant MELA-AU 7 38506568 38506568 single base substitution G A upstream_gene_variant MELA-AU 7 38506766 38506766 single base substitution G A intron_variant MELA-AU 7 38506766 38506766 single base substitution G A upstream_gene_variant MELA-AU 7 38507592 38507593 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 38507592 38507593 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 38508031 38508031 single base substitution C T intron_variant MELA-AU 7 38508213 38508213 single base substitution A G intron_variant MELA-AU 7 38508417 38508417 single base substitution C T intron_variant MELA-AU 7 38508530 38508531 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 38508868 38508868 single base substitution G A intron_variant MELA-AU 7 38508938 38508938 single base substitution C T intron_variant MELA-AU 7 38509054 38509054 single base substitution G A intron_variant MELA-AU 7 38509089 38509089 single base substitution C T intron_variant MELA-AU 7 38509109 38509109 single base substitution G A intron_variant MELA-AU 7 38509160 38509160 single base substitution G T intron_variant MELA-AU 7 38509325 38509325 single base substitution C T intron_variant MELA-AU 7 38509376 38509376 single base substitution G A intron_variant MELA-AU 7 38509566 38509566 single base substitution C T intron_variant MELA-AU 7 38509848 38509848 single base substitution C T intron_variant MELA-AU 7 38510228 38510228 single base substitution C T intron_variant MELA-AU 7 38510370 38510370 single base substitution G A intron_variant MELA-AU 7 38510521 38510521 single base substitution C T intron_variant MELA-AU 7 38511011 38511011 single base substitution C T intron_variant MELA-AU 7 38511027 38511027 single base substitution C T intron_variant MELA-AU 7 38511044 38511044 single base substitution C T intron_variant MELA-AU 7 38511070 38511070 single base substitution C T intron_variant MELA-AU 7 38511388 38511388 single base substitution G A intron_variant MELA-AU 7 38511843 38511843 single base substitution T C intron_variant MELA-AU 7 38512034 38512034 single base substitution G A intron_variant MELA-AU 7 38512349 38512349 single base substitution C T intron_variant MELA-AU 7 38513393 38513393 single base substitution T A intron_variant MELA-AU 7 38513482 38513482 single base substitution A C intron_variant MELA-AU 7 38513490 38513490 single base substitution C T intron_variant MELA-AU 7 38513643 38513643 single base substitution G A intron_variant MELA-AU 7 38513682 38513682 single base substitution G A intron_variant MELA-AU 7 38513841 38513841 single base substitution A C intron_variant MELA-AU 7 38513886 38513886 single base substitution G A intron_variant MELA-AU 7 38514103 38514103 single base substitution C T intron_variant MELA-AU 7 38514230 38514230 single base substitution A C intron_variant MELA-AU 7 38514232 38514232 single base substitution T A intron_variant MELA-AU 7 38514274 38514274 single base substitution G A intron_variant MELA-AU 7 38514315 38514315 single base substitution C T intron_variant MELA-AU 7 38514325 38514325 single base substitution C T intron_variant MELA-AU 7 38514367 38514367 single base substitution A G intron_variant MELA-AU 7 38514713 38514713 single base substitution A G intron_variant MELA-AU 7 38514871 38514871 single base substitution T C intron_variant MELA-AU 7 38515095 38515095 single base substitution G A intron_variant MELA-AU 7 38515706 38515706 single base substitution G A intron_variant MELA-AU 7 38515743 38515743 single base substitution G A intron_variant MELA-AU 7 38515756 38515756 single base substitution G A intron_variant MELA-AU 7 38515949 38515949 single base substitution G A intron_variant MELA-AU 7 38516029 38516029 single base substitution G A intron_variant MELA-AU 7 38516100 38516100 single base substitution G A intron_variant MELA-AU 7 38516428 38516428 single base substitution G A intron_variant MELA-AU 7 38516566 38516566 single base substitution G A missense_variant R134C 400C>T MELA-AU 7 38516671 38516671 single base substitution G A intron_variant MELA-AU 7 38516748 38516748 single base substitution C T intron_variant MELA-AU 7 38516903 38516903 single base substitution G A intron_variant MELA-AU 7 38517031 38517031 single base substitution C T intron_variant MELA-AU 7 38517325 38517325 single base substitution G A intron_variant MELA-AU 7 38517474 38517474 single base substitution T A intron_variant MELA-AU 7 38517649 38517649 single base substitution G A intron_variant MELA-AU 7 38517689 38517689 single base substitution A C intron_variant MELA-AU 7 38517709 38517709 single base substitution G A intron_variant MELA-AU 7 38517719 38517719 single base substitution C T intron_variant MELA-AU 7 38517939 38517939 single base substitution A C intron_variant MELA-AU 7 38518112 38518112 single base substitution T A intron_variant MELA-AU 7 38518378 38518378 single base substitution A G intron_variant MELA-AU 7 38518384 38518384 single base substitution C T intron_variant MELA-AU 7 38518532 38518532 single base substitution G A intron_variant MELA-AU 7 38518543 38518543 single base substitution G A intron_variant MELA-AU 7 38518546 38518546 single base substitution G A intron_variant MELA-AU 7 38518555 38518555 single base substitution G A intron_variant MELA-AU 7 38518624 38518624 single base substitution G A intron_variant MELA-AU 7 38518733 38518733 single base substitution G A intron_variant MELA-AU 7 38518744 38518744 single base substitution A G intron_variant MELA-AU 7 38518749 38518749 single base substitution T C intron_variant MELA-AU 7 38518891 38518891 single base substitution G A intron_variant MELA-AU 7 38519139 38519139 single base substitution C T intron_variant MELA-AU 7 38519293 38519293 single base substitution T C intron_variant MELA-AU 7 38519392 38519392 deletion of <=200bp T - intron_variant MELA-AU 7 38519468 38519468 single base substitution G A intron_variant MELA-AU 7 38519509 38519509 single base substitution G A intron_variant MELA-AU 7 38519567 38519567 single base substitution C T intron_variant MELA-AU 7 38519619 38519619 single base substitution G A intron_variant MELA-AU 7 38519623 38519623 single base substitution G A intron_variant MELA-AU 7 38519824 38519824 single base substitution C T intron_variant MELA-AU 7 38520017 38520017 single base substitution C T intron_variant MELA-AU 7 38520185 38520185 single base substitution T A intron_variant MELA-AU 7 38520348 38520348 single base substitution A C intron_variant MELA-AU 7 38520447 38520447 single base substitution C T intron_variant MELA-AU 7 38520792 38520792 single base substitution G A intron_variant MELA-AU 7 38520803 38520803 single base substitution G A intron_variant MELA-AU 7 38520804 38520804 single base substitution G A intron_variant MELA-AU 7 38520898 38520898 single base substitution G A intron_variant MELA-AU 7 38520903 38520903 single base substitution T C intron_variant MELA-AU 7 38520948 38520948 single base substitution G A intron_variant MELA-AU 7 38521385 38521385 single base substitution G A intron_variant MELA-AU 7 38521613 38521613 single base substitution C T intron_variant MELA-AU 7 38521623 38521623 single base substitution G A intron_variant MELA-AU 7 38522025 38522025 single base substitution T C intron_variant MELA-AU 7 38522165 38522165 single base substitution C T intron_variant MELA-AU 7 38522213 38522213 single base substitution C T intron_variant MELA-AU 7 38522410 38522410 single base substitution C T intron_variant MELA-AU 7 38522429 38522429 single base substitution G A intron_variant MELA-AU 7 38522516 38522516 single base substitution T A intron_variant MELA-AU 7 38522624 38522624 single base substitution G A intron_variant MELA-AU 7 38522719 38522719 single base substitution T C intron_variant MELA-AU 7 38522761 38522761 single base substitution C T intron_variant MELA-AU 7 38523046 38523046 single base substitution C T intron_variant MELA-AU 7 38523079 38523079 single base substitution G A intron_variant MELA-AU 7 38523099 38523099 single base substitution C T intron_variant MELA-AU 7 38523301 38523301 single base substitution A T intron_variant MELA-AU 7 38523386 38523386 single base substitution G A intron_variant MELA-AU 7 38523479 38523479 single base substitution G A intron_variant MELA-AU 7 38523679 38523679 single base substitution G A intron_variant MELA-AU 7 38523787 38523787 single base substitution C T intron_variant MELA-AU 7 38523860 38523860 single base substitution G A intron_variant MELA-AU 7 38523881 38523881 single base substitution A G intron_variant MELA-AU 7 38523887 38523887 single base substitution A G intron_variant MELA-AU 7 38523987 38523987 single base substitution G A intron_variant MELA-AU 7 38524071 38524071 single base substitution G A intron_variant MELA-AU 7 38524101 38524101 single base substitution C T intron_variant MELA-AU 7 38524197 38524197 single base substitution G A intron_variant MELA-AU 7 38524692 38524692 single base substitution C T intron_variant MELA-AU 7 38524874 38524874 single base substitution G A intron_variant MELA-AU 7 38524888 38524888 single base substitution T C intron_variant MELA-AU 7 38524893 38524893 single base substitution C T intron_variant MELA-AU 7 38524915 38524915 single base substitution G A intron_variant MELA-AU 7 38525358 38525358 single base substitution G A intron_variant MELA-AU 7 38525528 38525528 single base substitution G A intron_variant MELA-AU 7 38525724 38525724 single base substitution T C intron_variant MELA-AU 7 38525737 38525737 single base substitution G A intron_variant MELA-AU 7 38525752 38525752 single base substitution A G intron_variant MELA-AU 7 38525989 38525989 single base substitution G A intron_variant MELA-AU 7 38526315 38526315 single base substitution A T intron_variant MELA-AU 7 38526352 38526352 single base substitution G A intron_variant MELA-AU 7 38526486 38526486 single base substitution G A intron_variant MELA-AU 7 38526654 38526654 single base substitution G A intron_variant MELA-AU 7 38526664 38526664 single base substitution G A intron_variant MELA-AU 7 38526702 38526702 single base substitution G A intron_variant MELA-AU 7 38526758 38526758 single base substitution G A intron_variant MELA-AU 7 38526791 38526791 single base substitution A G intron_variant MELA-AU 7 38526841 38526841 single base substitution T A intron_variant MELA-AU 7 38526938 38526938 single base substitution G A intron_variant MELA-AU 7 38527311 38527311 single base substitution G A intron_variant MELA-AU 7 38527383 38527383 single base substitution G A intron_variant MELA-AU 7 38527383 38527384 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 38527440 38527440 single base substitution G A intron_variant MELA-AU 7 38527517 38527517 single base substitution G A intron_variant MELA-AU 7 38527676 38527676 single base substitution G A intron_variant MELA-AU 7 38527992 38527992 single base substitution G A intron_variant MELA-AU 7 38528062 38528063 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 38528089 38528089 single base substitution G A intron_variant MELA-AU 7 38528337 38528337 single base substitution C T intron_variant MELA-AU 7 38528399 38528399 single base substitution G A intron_variant MELA-AU 7 38528567 38528567 single base substitution G A intron_variant MELA-AU 7 38528584 38528584 single base substitution T G intron_variant MELA-AU 7 38528806 38528806 single base substitution G A intron_variant MELA-AU 7 38528841 38528841 single base substitution G A intron_variant MELA-AU 7 38528917 38528917 single base substitution T A intron_variant MELA-AU 7 38528978 38528978 single base substitution A C intron_variant MELA-AU 7 38528991 38528991 single base substitution C T intron_variant MELA-AU 7 38529813 38529813 single base substitution C T intron_variant MELA-AU 7 38529826 38529826 single base substitution T C intron_variant MELA-AU 7 38530178 38530178 single base substitution C T intron_variant MELA-AU 7 38530220 38530220 single base substitution A T intron_variant MELA-AU 7 38530315 38530315 single base substitution C T intron_variant MELA-AU 7 38530362 38530362 single base substitution G A intron_variant MELA-AU 7 38530621 38530621 single base substitution C T intron_variant MELA-AU 7 38530772 38530772 single base substitution G A intron_variant MELA-AU 7 38530869 38530869 single base substitution G A intron_variant MELA-AU 7 38530980 38530980 single base substitution G A intron_variant MELA-AU 7 38531020 38531020 single base substitution C T intron_variant MELA-AU 7 38531098 38531098 single base substitution C T intron_variant MELA-AU 7 38531533 38531533 single base substitution G A intron_variant MELA-AU 7 38531709 38531709 single base substitution C T intron_variant MELA-AU 7 38531897 38531897 single base substitution C T intron_variant MELA-AU 7 38532160 38532160 single base substitution C T intron_variant MELA-AU 7 38532169 38532169 single base substitution C T intron_variant MELA-AU 7 38532465 38532465 single base substitution G A intron_variant MELA-AU 7 38532516 38532516 single base substitution G A intron_variant MELA-AU 7 38532764 38532764 single base substitution T G intron_variant MELA-AU 7 38532780 38532780 single base substitution A G intron_variant MELA-AU 7 38533164 38533164 single base substitution A G intron_variant MELA-AU 7 38533511 38533511 single base substitution C T intron_variant MELA-AU 7 38533545 38533545 single base substitution G A intron_variant MELA-AU 7 38533548 38533548 single base substitution C T intron_variant MELA-AU 7 38533620 38533620 single base substitution G A intron_variant MELA-AU 7 38533789 38533790 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 38533810 38533810 single base substitution C T intron_variant MELA-AU 7 38533918 38533918 single base substitution C T intron_variant MELA-AU 7 38534086 38534086 single base substitution C T missense_variant E83K 247G>A MELA-AU 7 38534205 38534205 single base substitution T A intron_variant MELA-AU 7 38534206 38534206 single base substitution G A intron_variant MELA-AU 7 38534346 38534346 single base substitution G A intron_variant MELA-AU 7 38534405 38534405 single base substitution C T intron_variant MELA-AU 7 38534504 38534504 single base substitution C T intron_variant MELA-AU 7 38534563 38534563 single base substitution C T intron_variant MELA-AU 7 38534700 38534700 single base substitution C T intron_variant MELA-AU 7 38534931 38534931 single base substitution G A intron_variant MELA-AU 7 38535237 38535237 single base substitution G A intron_variant MELA-AU 7 38535294 38535294 single base substitution G A intron_variant MELA-AU 7 38535466 38535466 single base substitution C T intron_variant MELA-AU 7 38535528 38535528 single base substitution G A intron_variant MELA-AU 7 38535648 38535648 single base substitution G A intron_variant MELA-AU 7 38535675 38535676 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 38535700 38535700 single base substitution G A intron_variant MELA-AU 7 38535732 38535732 single base substitution A C intron_variant MELA-AU 7 38535810 38535810 single base substitution G A intron_variant MELA-AU 7 38535815 38535815 single base substitution G A intron_variant MELA-AU 7 38535846 38535846 single base substitution G A intron_variant MELA-AU 7 38535890 38535890 single base substitution C T intron_variant MELA-AU 7 38536019 38536019 single base substitution G A intron_variant MELA-AU 7 38536026 38536026 single base substitution C T intron_variant MELA-AU 7 38536037 38536037 single base substitution G A intron_variant MELA-AU 7 38536121 38536121 single base substitution G A intron_variant MELA-AU 7 38536146 38536146 single base substitution G A intron_variant MELA-AU 7 38536606 38536606 single base substitution T G intron_variant MELA-AU 7 38536664 38536664 single base substitution C T intron_variant MELA-AU 7 38536721 38536721 single base substitution G A intron_variant MELA-AU 7 38536810 38536810 single base substitution C A intron_variant MELA-AU 7 38536825 38536825 single base substitution G A intron_variant MELA-AU 7 38537000 38537000 single base substitution T A intron_variant MELA-AU 7 38537217 38537217 single base substitution A T intron_variant MELA-AU 7 38537394 38537394 single base substitution G A intron_variant MELA-AU 7 38537602 38537602 single base substitution C A intron_variant MELA-AU 7 38537615 38537615 single base substitution C T intron_variant MELA-AU 7 38537634 38537634 single base substitution G A intron_variant MELA-AU 7 38538106 38538106 single base substitution C T intron_variant MELA-AU 7 38538151 38538151 single base substitution G A intron_variant MELA-AU 7 38538417 38538417 single base substitution G A intron_variant MELA-AU 7 38538638 38538638 single base substitution C T intron_variant MELA-AU 7 38538662 38538662 single base substitution C T intron_variant MELA-AU 7 38539054 38539054 single base substitution C T intron_variant MELA-AU 7 38539124 38539124 single base substitution A C intron_variant MELA-AU 7 38539253 38539253 single base substitution G A intron_variant MELA-AU 7 38539300 38539300 single base substitution G A intron_variant MELA-AU 7 38539323 38539323 single base substitution G A intron_variant MELA-AU 7 38539388 38539388 single base substitution G A intron_variant MELA-AU 7 38539644 38539644 single base substitution G A intron_variant MELA-AU 7 38539799 38539799 single base substitution C T intron_variant MELA-AU 7 38539930 38539930 single base substitution G A intron_variant MELA-AU 7 38539964 38539964 single base substitution C T intron_variant MELA-AU 7 38539998 38539998 single base substitution C T intron_variant MELA-AU 7 38540054 38540054 single base substitution G A intron_variant MELA-AU 7 38540102 38540102 single base substitution C T intron_variant MELA-AU 7 38540712 38540712 single base substitution G A intron_variant MELA-AU 7 38540753 38540753 single base substitution C T intron_variant MELA-AU 7 38540801 38540801 single base substitution C T intron_variant MELA-AU 7 38540833 38540833 single base substitution C A intron_variant MELA-AU 7 38541185 38541185 single base substitution C T intron_variant MELA-AU 7 38541842 38541842 single base substitution A G intron_variant MELA-AU 7 38542036 38542036 single base substitution G A intron_variant MELA-AU 7 38542072 38542072 single base substitution G A intron_variant MELA-AU 7 38542180 38542180 single base substitution G A intron_variant MELA-AU 7 38542228 38542228 single base substitution G A intron_variant MELA-AU 7 38542369 38542369 single base substitution C T intron_variant MELA-AU 7 38542374 38542374 single base substitution C T intron_variant MELA-AU 7 38542392 38542392 single base substitution C T intron_variant MELA-AU 7 38542490 38542490 single base substitution C T intron_variant MELA-AU 7 38542573 38542573 single base substitution G A intron_variant MELA-AU 7 38542585 38542585 single base substitution C T intron_variant MELA-AU 7 38542657 38542657 single base substitution C T intron_variant MELA-AU 7 38542665 38542665 single base substitution C G intron_variant MELA-AU 7 38542677 38542677 single base substitution T A intron_variant MELA-AU 7 38542696 38542696 single base substitution C T intron_variant MELA-AU 7 38542801 38542801 single base substitution G A intron_variant MELA-AU 7 38542910 38542910 single base substitution G A intron_variant MELA-AU 7 38542921 38542921 single base substitution C T intron_variant MELA-AU 7 38542987 38542987 single base substitution C T intron_variant MELA-AU 7 38543116 38543116 single base substitution G A intron_variant MELA-AU 7 38543172 38543172 single base substitution A C intron_variant MELA-AU 7 38543365 38543365 single base substitution G A intron_variant MELA-AU 7 38543409 38543409 single base substitution G A intron_variant MELA-AU 7 38543419 38543419 single base substitution A G intron_variant MELA-AU 7 38543572 38543572 single base substitution C T intron_variant MELA-AU 7 38543576 38543576 single base substitution T A intron_variant MELA-AU 7 38543619 38543619 single base substitution C T intron_variant MELA-AU 7 38543810 38543810 single base substitution T A intron_variant MELA-AU 7 38543837 38543837 single base substitution C T intron_variant MELA-AU 7 38544082 38544082 single base substitution G A intron_variant MELA-AU 7 38544106 38544106 single base substitution A T intron_variant MELA-AU 7 38544167 38544167 single base substitution G A intron_variant MELA-AU 7 38544251 38544251 single base substitution C T intron_variant MELA-AU 7 38544620 38544620 single base substitution G A intron_variant MELA-AU 7 38544635 38544635 single base substitution C T intron_variant MELA-AU 7 38544780 38544780 single base substitution G A intron_variant MELA-AU 7 38544849 38544849 single base substitution G A intron_variant MELA-AU 7 38545001 38545002 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 38545319 38545319 single base substitution C T intron_variant MELA-AU 7 38545461 38545461 single base substitution G A intron_variant MELA-AU 7 38545663 38545663 single base substitution C T intron_variant MELA-AU 7 38545701 38545701 single base substitution G A intron_variant MELA-AU 7 38545803 38545803 single base substitution G A intron_variant MELA-AU 7 38545928 38545928 single base substitution G A intron_variant MELA-AU 7 38546047 38546047 single base substitution G A intron_variant MELA-AU 7 38546306 38546306 single base substitution G A intron_variant MELA-AU 7 38546332 38546332 single base substitution G A intron_variant MELA-AU 7 38546585 38546585 single base substitution G A intron_variant MELA-AU 7 38546659 38546659 single base substitution C T intron_variant MELA-AU 7 38546687 38546687 single base substitution G A intron_variant MELA-AU 7 38546769 38546769 single base substitution G A intron_variant MELA-AU 7 38546809 38546809 single base substitution T A intron_variant MELA-AU 7 38546834 38546834 single base substitution G A intron_variant MELA-AU 7 38546944 38546944 single base substitution T A intron_variant MELA-AU 7 38547137 38547137 single base substitution C T intron_variant MELA-AU 7 38547158 38547158 single base substitution G A intron_variant MELA-AU 7 38547378 38547378 single base substitution C T intron_variant MELA-AU 7 38547381 38547381 single base substitution G A intron_variant MELA-AU 7 38547414 38547414 single base substitution C T intron_variant MELA-AU 7 38547755 38547755 single base substitution G A intron_variant MELA-AU 7 38547778 38547778 single base substitution A G intron_variant MELA-AU 7 38547897 38547897 single base substitution G A intron_variant MELA-AU 7 38547959 38547959 single base substitution C T intron_variant MELA-AU 7 38548149 38548149 single base substitution G A intron_variant MELA-AU 7 38548385 38548385 single base substitution G A intron_variant MELA-AU 7 38548388 38548388 single base substitution C T intron_variant MELA-AU 7 38548542 38548542 single base substitution C T intron_variant MELA-AU 7 38548789 38548789 single base substitution G A intron_variant MELA-AU 7 38548832 38548832 single base substitution G A intron_variant MELA-AU 7 38549205 38549205 single base substitution C T intron_variant MELA-AU 7 38549269 38549269 single base substitution G A intron_variant MELA-AU 7 38549770 38549770 single base substitution C T intron_variant MELA-AU 7 38549824 38549824 single base substitution C T intron_variant MELA-AU 7 38550005 38550005 single base substitution T C intron_variant MELA-AU 7 38550029 38550029 single base substitution G A intron_variant MELA-AU 7 38550046 38550046 single base substitution G A intron_variant MELA-AU 7 38550198 38550198 single base substitution G A intron_variant MELA-AU 7 38550904 38550904 single base substitution C T intron_variant MELA-AU 7 38550952 38550952 single base substitution G A intron_variant MELA-AU 7 38551050 38551050 single base substitution G A intron_variant MELA-AU 7 38551169 38551169 single base substitution G A intron_variant MELA-AU 7 38551181 38551181 single base substitution A G intron_variant MELA-AU 7 38551625 38551625 single base substitution G A intron_variant MELA-AU 7 38551655 38551655 single base substitution A C intron_variant MELA-AU 7 38551664 38551664 single base substitution C T intron_variant MELA-AU 7 38552206 38552206 single base substitution G A intron_variant MELA-AU 7 38552359 38552359 single base substitution A G intron_variant MELA-AU 7 38552570 38552570 single base substitution G A intron_variant MELA-AU 7 38552636 38552636 single base substitution G A intron_variant MELA-AU 7 38552637 38552637 single base substitution C T intron_variant MELA-AU 7 38552811 38552811 single base substitution T C intron_variant MELA-AU 7 38552885 38552885 single base substitution A G intron_variant MELA-AU 7 38553111 38553111 single base substitution A G intron_variant MELA-AU 7 38553154 38553154 single base substitution G A intron_variant MELA-AU 7 38553249 38553249 single base substitution C T intron_variant MELA-AU 7 38553332 38553332 single base substitution G A intron_variant MELA-AU 7 38553769 38553769 single base substitution G A intron_variant MELA-AU 7 38553921 38553921 single base substitution G A intron_variant MELA-AU 7 38553991 38553991 single base substitution G A intron_variant MELA-AU 7 38554141 38554141 single base substitution G A intron_variant MELA-AU 7 38554350 38554350 single base substitution C T intron_variant MELA-AU 7 38554434 38554434 single base substitution G A intron_variant MELA-AU 7 38554558 38554558 single base substitution G A intron_variant MELA-AU 7 38554572 38554572 single base substitution C T intron_variant MELA-AU 7 38554745 38554745 single base substitution G A intron_variant MELA-AU 7 38554750 38554750 single base substitution G A intron_variant MELA-AU 7 38554776 38554776 single base substitution G A intron_variant MELA-AU 7 38554807 38554807 single base substitution G A intron_variant MELA-AU 7 38554829 38554829 single base substitution G A intron_variant MELA-AU 7 38554926 38554926 single base substitution G A intron_variant MELA-AU 7 38554949 38554949 single base substitution C T intron_variant MELA-AU 7 38555270 38555270 single base substitution G A intron_variant MELA-AU 7 38555328 38555328 single base substitution G A intron_variant MELA-AU 7 38555443 38555443 single base substitution G A intron_variant MELA-AU 7 38555764 38555764 single base substitution A T intron_variant MELA-AU 7 38555801 38555801 single base substitution A T intron_variant MELA-AU 7 38555863 38555863 single base substitution G A intron_variant MELA-AU 7 38555875 38555875 single base substitution G A intron_variant MELA-AU 7 38555896 38555896 single base substitution G A intron_variant MELA-AU 7 38555947 38555947 single base substitution C T intron_variant MELA-AU 7 38556360 38556360 single base substitution G A intron_variant MELA-AU 7 38556374 38556374 single base substitution G A intron_variant MELA-AU 7 38556422 38556422 single base substitution G A intron_variant MELA-AU 7 38556475 38556475 single base substitution G A intron_variant MELA-AU 7 38556478 38556478 single base substitution T A intron_variant MELA-AU 7 38556484 38556484 single base substitution G A intron_variant MELA-AU 7 38556515 38556515 single base substitution G A intron_variant MELA-AU 7 38556571 38556571 single base substitution G A intron_variant MELA-AU 7 38556572 38556572 single base substitution G A intron_variant MELA-AU 7 38556657 38556657 single base substitution G A intron_variant MELA-AU 7 38556666 38556666 single base substitution T C intron_variant MELA-AU 7 38556690 38556690 single base substitution G A intron_variant MELA-AU 7 38556776 38556776 single base substitution A G intron_variant MELA-AU 7 38556871 38556871 single base substitution A G intron_variant MELA-AU 7 38557114 38557114 single base substitution G A intron_variant MELA-AU 7 38557417 38557417 single base substitution T A intron_variant MELA-AU 7 38557559 38557559 single base substitution G A intron_variant MELA-AU 7 38557619 38557619 single base substitution C T intron_variant MELA-AU 7 38557834 38557834 single base substitution G A intron_variant MELA-AU 7 38557899 38557899 single base substitution C T intron_variant MELA-AU 7 38557976 38557976 single base substitution G A intron_variant MELA-AU 7 38558031 38558031 single base substitution G A intron_variant MELA-AU 7 38558038 38558038 single base substitution C T intron_variant MELA-AU 7 38558085 38558085 single base substitution G A intron_variant MELA-AU 7 38558119 38558119 single base substitution T G intron_variant MELA-AU 7 38558205 38558206 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 38558465 38558465 single base substitution G A intron_variant MELA-AU 7 38558786 38558786 single base substitution G A intron_variant MELA-AU 7 38558793 38558793 single base substitution G A intron_variant MELA-AU 7 38558954 38558954 single base substitution G A intron_variant MELA-AU 7 38558960 38558960 single base substitution C T intron_variant MELA-AU 7 38558965 38558965 single base substitution T A intron_variant MELA-AU 7 38559346 38559346 single base substitution G A intron_variant MELA-AU 7 38559552 38559552 single base substitution G A intron_variant MELA-AU 7 38559593 38559593 single base substitution G A intron_variant MELA-AU 7 38560040 38560040 single base substitution G A intron_variant MELA-AU 7 38560145 38560145 single base substitution C T intron_variant MELA-AU 7 38560280 38560280 single base substitution G A intron_variant MELA-AU 7 38560355 38560355 single base substitution C T intron_variant MELA-AU 7 38560590 38560590 single base substitution C T intron_variant MELA-AU 7 38560633 38560633 single base substitution G A intron_variant MELA-AU 7 38560670 38560670 single base substitution G A intron_variant MELA-AU 7 38560844 38560844 single base substitution G A intron_variant MELA-AU 7 38560919 38560919 single base substitution C T intron_variant MELA-AU 7 38561070 38561070 single base substitution G A intron_variant MELA-AU 7 38561193 38561193 single base substitution T G intron_variant MELA-AU 7 38561271 38561271 single base substitution G A intron_variant MELA-AU 7 38561341 38561341 single base substitution G A intron_variant MELA-AU 7 38561355 38561355 single base substitution C T intron_variant MELA-AU 7 38561415 38561415 single base substitution C T intron_variant MELA-AU 7 38561480 38561480 single base substitution C T intron_variant MELA-AU 7 38561580 38561580 single base substitution G A intron_variant MELA-AU 7 38561612 38561612 single base substitution C T intron_variant MELA-AU 7 38561678 38561678 single base substitution T G intron_variant MELA-AU 7 38561822 38561822 single base substitution C T intron_variant MELA-AU 7 38561861 38561861 single base substitution C T intron_variant MELA-AU 7 38561944 38561944 single base substitution G C intron_variant MELA-AU 7 38562070 38562070 single base substitution G A intron_variant MELA-AU 7 38562090 38562091 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 38562285 38562285 single base substitution G A intron_variant MELA-AU 7 38562332 38562332 single base substitution G A intron_variant MELA-AU 7 38562418 38562418 single base substitution G A intron_variant MELA-AU 7 38562566 38562566 single base substitution G A intron_variant MELA-AU 7 38562962 38562962 single base substitution C A intron_variant MELA-AU 7 38562972 38562972 single base substitution C T intron_variant MELA-AU 7 38563185 38563185 single base substitution C T intron_variant MELA-AU 7 38563233 38563233 single base substitution A T intron_variant MELA-AU 7 38563536 38563536 single base substitution G A intron_variant MELA-AU 7 38563792 38563792 single base substitution C T intron_variant MELA-AU 7 38563951 38563951 single base substitution G A intron_variant MELA-AU 7 38564446 38564446 single base substitution C T intron_variant MELA-AU 7 38564473 38564473 single base substitution C T intron_variant MELA-AU 7 38564784 38564784 single base substitution T C intron_variant MELA-AU 7 38564877 38564877 single base substitution T G intron_variant MELA-AU 7 38565179 38565179 single base substitution G A intron_variant MELA-AU 7 38565475 38565475 single base substitution T C intron_variant MELA-AU 7 38565517 38565517 single base substitution C A intron_variant MELA-AU 7 38565688 38565688 single base substitution C T intron_variant MELA-AU 7 38565918 38565919 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 38566185 38566185 single base substitution G A intron_variant MELA-AU 7 38566475 38566475 single base substitution C T intron_variant MELA-AU 7 38566709 38566709 single base substitution C T intron_variant MELA-AU 7 38567172 38567172 single base substitution G A intron_variant MELA-AU 7 38567210 38567210 single base substitution G A intron_variant MELA-AU 7 38567391 38567391 single base substitution G A intron_variant MELA-AU 7 38567428 38567428 single base substitution G A intron_variant MELA-AU 7 38567459 38567459 single base substitution G A intron_variant MELA-AU 7 38567609 38567609 single base substitution G A intron_variant MELA-AU 7 38567661 38567661 single base substitution A G intron_variant MELA-AU 7 38567683 38567683 single base substitution C T intron_variant MELA-AU 7 38567695 38567695 single base substitution C T intron_variant MELA-AU 7 38567748 38567748 single base substitution G A intron_variant MELA-AU 7 38567990 38567990 single base substitution A T intron_variant MELA-AU 7 38568008 38568008 single base substitution C T intron_variant MELA-AU 7 38568145 38568145 single base substitution C T intron_variant MELA-AU 7 38568146 38568146 single base substitution C T intron_variant MELA-AU 7 38568256 38568256 single base substitution G A intron_variant MELA-AU 7 38568276 38568276 single base substitution G A intron_variant MELA-AU 7 38568403 38568403 single base substitution G A intron_variant MELA-AU 7 38568467 38568467 single base substitution T C intron_variant MELA-AU 7 38568468 38568468 single base substitution C T intron_variant MELA-AU 7 38568560 38568560 single base substitution T A intron_variant MELA-AU 7 38569141 38569141 single base substitution G A intron_variant MELA-AU 7 38569191 38569191 single base substitution C T intron_variant MELA-AU 7 38569214 38569214 single base substitution C T intron_variant MELA-AU 7 38569221 38569221 single base substitution G A intron_variant MELA-AU 7 38569257 38569257 single base substitution C T intron_variant MELA-AU 7 38569272 38569272 single base substitution C T intron_variant MELA-AU 7 38569294 38569294 single base substitution G A intron_variant MELA-AU 7 38569499 38569499 single base substitution C G intron_variant MELA-AU 7 38569723 38569723 single base substitution C T intron_variant MELA-AU 7 38569780 38569780 single base substitution G A intron_variant MELA-AU 7 38569926 38569926 single base substitution G A intron_variant MELA-AU 7 38570007 38570007 single base substitution G A intron_variant MELA-AU 7 38570069 38570069 single base substitution G A intron_variant MELA-AU 7 38570098 38570098 single base substitution G A intron_variant MELA-AU 7 38570458 38570458 single base substitution G A intron_variant MELA-AU 7 38570524 38570524 single base substitution G A intron_variant MELA-AU 7 38570641 38570641 single base substitution C T intron_variant MELA-AU 7 38570698 38570698 single base substitution G A intron_variant MELA-AU 7 38570830 38570830 single base substitution G A intron_variant MELA-AU 7 38570934 38570934 single base substitution C T intron_variant MELA-AU 7 38571071 38571071 single base substitution A T intron_variant MELA-AU 7 38571096 38571096 single base substitution G A intron_variant MELA-AU 7 38571336 38571336 single base substitution G A intron_variant MELA-AU 7 38571606 38571606 single base substitution T C intron_variant MELA-AU 7 38571802 38571802 single base substitution C T intron_variant MELA-AU 7 38571986 38571986 single base substitution A C intron_variant MELA-AU 7 38572187 38572187 single base substitution G A intron_variant MELA-AU 7 38572226 38572226 single base substitution C T intron_variant MELA-AU 7 38572393 38572393 single base substitution C T intron_variant MELA-AU 7 38572475 38572475 single base substitution G A intron_variant MELA-AU 7 38572514 38572514 single base substitution C T intron_variant MELA-AU 7 38572520 38572520 single base substitution G A intron_variant MELA-AU 7 38572536 38572536 single base substitution A C intron_variant MELA-AU 7 38572577 38572577 single base substitution G A intron_variant MELA-AU 7 38572801 38572801 single base substitution G A intron_variant MELA-AU 7 38572858 38572858 single base substitution C T intron_variant MELA-AU 7 38573100 38573100 single base substitution C T intron_variant MELA-AU 7 38573123 38573123 single base substitution C T intron_variant MELA-AU 7 38573307 38573307 single base substitution C T intron_variant MELA-AU 7 38573336 38573336 single base substitution C T intron_variant MELA-AU 7 38573658 38573658 single base substitution C T intron_variant MELA-AU 7 38573664 38573664 single base substitution G A intron_variant MELA-AU 7 38573847 38573847 single base substitution G A intron_variant MELA-AU 7 38574142 38574142 single base substitution G A intron_variant MELA-AU 7 38574244 38574244 single base substitution C T intron_variant MELA-AU 7 38574333 38574333 single base substitution C T intron_variant MELA-AU 7 38574356 38574356 single base substitution C T intron_variant MELA-AU 7 38574500 38574500 single base substitution C T intron_variant MELA-AU 7 38574543 38574543 single base substitution G A synonymous_variant F46F 138C>T MELA-AU 7 38575079 38575079 single base substitution G A intron_variant MELA-AU 7 38575289 38575289 single base substitution G A intron_variant MELA-AU 7 38575328 38575328 single base substitution G A intron_variant MELA-AU 7 38575360 38575360 single base substitution T C intron_variant MELA-AU 7 38575411 38575411 single base substitution A G intron_variant MELA-AU 7 38575429 38575429 single base substitution G A intron_variant MELA-AU 7 38575557 38575557 single base substitution G A intron_variant MELA-AU 7 38575627 38575627 single base substitution G A intron_variant MELA-AU 7 38575847 38575847 single base substitution G A intron_variant MELA-AU 7 38576102 38576102 single base substitution G A intron_variant MELA-AU 7 38576153 38576153 single base substitution C T intron_variant MELA-AU 7 38576419 38576419 single base substitution G A intron_variant MELA-AU 7 38576768 38576768 single base substitution A T intron_variant MELA-AU 7 38577101 38577101 single base substitution G A intron_variant MELA-AU 7 38577314 38577314 single base substitution C T intron_variant MELA-AU 7 38577364 38577364 single base substitution C T intron_variant MELA-AU 7 38577404 38577404 single base substitution G A intron_variant MELA-AU 7 38577689 38577689 single base substitution C T intron_variant MELA-AU 7 38578288 38578288 single base substitution G A intron_variant MELA-AU 7 38578373 38578373 single base substitution G A intron_variant MELA-AU 7 38578391 38578391 single base substitution G A intron_variant MELA-AU 7 38578421 38578421 single base substitution G A intron_variant MELA-AU 7 38578696 38578696 single base substitution C T intron_variant MELA-AU 7 38578835 38578835 single base substitution G A intron_variant MELA-AU 7 38579048 38579048 single base substitution G A intron_variant MELA-AU 7 38579649 38579649 single base substitution G A intron_variant MELA-AU 7 38579820 38579820 single base substitution C T intron_variant MELA-AU 7 38579920 38579920 single base substitution A G intron_variant MELA-AU 7 38580223 38580223 single base substitution G A intron_variant MELA-AU 7 38580244 38580244 single base substitution G A intron_variant MELA-AU 7 38580246 38580246 single base substitution G A intron_variant MELA-AU 7 38580278 38580278 single base substitution G C intron_variant MELA-AU 7 38580283 38580283 single base substitution G A intron_variant MELA-AU 7 38580298 38580298 single base substitution A T intron_variant MELA-AU 7 38580344 38580344 single base substitution G A intron_variant MELA-AU 7 38580484 38580484 single base substitution C T intron_variant MELA-AU 7 38580624 38580624 single base substitution A C intron_variant MELA-AU 7 38580728 38580728 single base substitution G A intron_variant MELA-AU 7 38581000 38581000 single base substitution G A intron_variant MELA-AU 7 38581134 38581134 single base substitution A C intron_variant MELA-AU 7 38581384 38581384 single base substitution G A intron_variant MELA-AU 7 38581400 38581400 single base substitution G A intron_variant MELA-AU 7 38581480 38581480 single base substitution G A intron_variant MELA-AU 7 38581532 38581532 single base substitution C A intron_variant MELA-AU 7 38581662 38581662 single base substitution T A intron_variant MELA-AU 7 38581857 38581857 single base substitution C A intron_variant MELA-AU 7 38581925 38581925 single base substitution C T intron_variant MELA-AU 7 38582177 38582177 single base substitution G A intron_variant MELA-AU 7 38582346 38582346 single base substitution A C intron_variant MELA-AU 7 38582402 38582402 single base substitution A T intron_variant MELA-AU 7 38582760 38582760 single base substitution G A intron_variant MELA-AU 7 38582827 38582827 single base substitution A C intron_variant MELA-AU 7 38582958 38582958 single base substitution C T intron_variant MELA-AU 7 38582965 38582965 single base substitution G A intron_variant MELA-AU 7 38582977 38582977 single base substitution C T intron_variant MELA-AU 7 38583009 38583010 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 38583353 38583353 single base substitution C T intron_variant MELA-AU 7 38583554 38583554 single base substitution A G intron_variant MELA-AU 7 38583850 38583850 single base substitution G A intron_variant MELA-AU 7 38583952 38583952 single base substitution C T intron_variant MELA-AU 7 38584119 38584119 single base substitution G A intron_variant MELA-AU 7 38585260 38585260 single base substitution C T intron_variant MELA-AU 7 38585271 38585271 single base substitution A G intron_variant MELA-AU 7 38585834 38585834 single base substitution A G intron_variant MELA-AU 7 38586080 38586080 single base substitution G A intron_variant MELA-AU 7 38586131 38586131 single base substitution G A intron_variant MELA-AU 7 38586147 38586147 single base substitution G A intron_variant MELA-AU 7 38586313 38586313 single base substitution G A intron_variant MELA-AU 7 38586333 38586333 single base substitution G A intron_variant MELA-AU 7 38586475 38586475 single base substitution C T intron_variant MELA-AU 7 38586691 38586691 single base substitution C T intron_variant MELA-AU 7 38586862 38586862 single base substitution T C intron_variant MELA-AU 7 38587374 38587374 single base substitution C A intron_variant MELA-AU 7 38587522 38587523 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 38587692 38587692 single base substitution G A intron_variant MELA-AU 7 38588086 38588086 single base substitution C T intron_variant MELA-AU 7 38588232 38588232 single base substitution G A intron_variant MELA-AU 7 38588298 38588298 single base substitution G A intron_variant MELA-AU 7 38588575 38588575 single base substitution G A intron_variant MELA-AU 7 38588587 38588587 single base substitution C T intron_variant MELA-AU 7 38588660 38588660 single base substitution C T intron_variant MELA-AU 7 38588956 38588956 single base substitution C T intron_variant MELA-AU 7 38589035 38589035 single base substitution G A intron_variant MELA-AU 7 38589237 38589237 single base substitution C T intron_variant MELA-AU 7 38589265 38589265 single base substitution G A intron_variant MELA-AU 7 38589768 38589768 single base substitution C T intron_variant MELA-AU 7 38589858 38589858 single base substitution A G intron_variant MELA-AU 7 38589991 38589991 single base substitution G A intron_variant MELA-AU 7 38590076 38590076 single base substitution G A intron_variant MELA-AU 7 38590123 38590123 single base substitution T C intron_variant MELA-AU 7 38590343 38590343 single base substitution G A intron_variant MELA-AU 7 38590652 38590652 single base substitution C T intron_variant MELA-AU 7 38591221 38591221 single base substitution A T intron_variant MELA-AU 7 38591323 38591323 single base substitution G A intron_variant MELA-AU 7 38591824 38591824 single base substitution G A intron_variant MELA-AU 7 38592012 38592012 single base substitution C T intron_variant MELA-AU 7 38592160 38592160 single base substitution C T intron_variant MELA-AU 7 38592198 38592199 multiple base substitution (>=2bp and <=200bp) AA TC intron_variant MELA-AU 7 38592279 38592279 single base substitution C T intron_variant MELA-AU 7 38592694 38592694 single base substitution C T intron_variant MELA-AU 7 38593748 38593748 single base substitution C T intron_variant MELA-AU 7 38594511 38594511 single base substitution G A intron_variant MELA-AU 7 38594639 38594639 single base substitution G A intron_variant MELA-AU 7 38595750 38595750 single base substitution G A intron_variant MELA-AU 7 38595873 38595873 single base substitution A G intron_variant MELA-AU 7 38596117 38596117 single base substitution C T intron_variant MELA-AU 7 38596646 38596646 single base substitution G A intron_variant MELA-AU 7 38597003 38597004 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 38597013 38597013 single base substitution C A intron_variant MELA-AU 7 38597049 38597049 single base substitution C T intron_variant MELA-AU 7 38597122 38597122 single base substitution G A intron_variant MELA-AU 7 38597209 38597209 single base substitution C T intron_variant MELA-AU 7 38597586 38597586 single base substitution G A intron_variant MELA-AU 7 38597661 38597661 single base substitution G A intron_variant MELA-AU 7 38597775 38597775 single base substitution C T intron_variant MELA-AU 7 38597885 38597885 single base substitution G A intron_variant MELA-AU 7 38598190 38598190 single base substitution G A intron_variant MELA-AU 7 38598305 38598305 single base substitution G A intron_variant MELA-AU 7 38598416 38598416 single base substitution G A intron_variant MELA-AU 7 38598711 38598711 single base substitution C T intron_variant MELA-AU 7 38599124 38599124 single base substitution A T intron_variant MELA-AU 7 38599145 38599145 single base substitution C T intron_variant MELA-AU 7 38599396 38599396 single base substitution G A intron_variant MELA-AU 7 38599453 38599453 single base substitution C T intron_variant MELA-AU 7 38599458 38599458 single base substitution C T intron_variant MELA-AU 7 38599717 38599717 single base substitution C T intron_variant MELA-AU 7 38600358 38600358 single base substitution C T intron_variant MELA-AU 7 38600446 38600446 single base substitution C T intron_variant MELA-AU 7 38600561 38600561 single base substitution G A intron_variant MELA-AU 7 38600570 38600570 single base substitution G A intron_variant MELA-AU 7 38600622 38600622 single base substitution G A intron_variant MELA-AU 7 38600814 38600814 single base substitution G A intron_variant MELA-AU 7 38600837 38600837 single base substitution G A intron_variant MELA-AU 7 38600844 38600844 single base substitution G A intron_variant MELA-AU 7 38600921 38600921 single base substitution C T intron_variant MELA-AU 7 38600980 38600980 single base substitution G A intron_variant MELA-AU 7 38601091 38601091 single base substitution G A intron_variant MELA-AU 7 38601151 38601151 single base substitution A G intron_variant MELA-AU 7 38601406 38601406 single base substitution C G intron_variant MELA-AU 7 38601456 38601456 single base substitution C T intron_variant MELA-AU 7 38601523 38601523 single base substitution A T intron_variant MELA-AU 7 38601546 38601546 single base substitution C T intron_variant MELA-AU 7 38601714 38601714 single base substitution C G intron_variant MELA-AU 7 38601714 38601714 single base substitution C T intron_variant MELA-AU 7 38601739 38601739 single base substitution G A intron_variant MELA-AU 7 38601741 38601741 single base substitution G A intron_variant MELA-AU 7 38602002 38602002 single base substitution G A intron_variant MELA-AU 7 38602121 38602121 single base substitution G A intron_variant MELA-AU 7 38602211 38602211 single base substitution G A intron_variant MELA-AU 7 38602267 38602267 single base substitution G T intron_variant MELA-AU 7 38602491 38602491 single base substitution T A intron_variant MELA-AU 7 38602590 38602591 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 7 38602684 38602684 single base substitution G A intron_variant MELA-AU 7 38602734 38602734 single base substitution G A intron_variant MELA-AU 7 38602767 38602767 single base substitution G A intron_variant MELA-AU 7 38603330 38603330 single base substitution G A intron_variant MELA-AU 7 38603374 38603374 single base substitution G A intron_variant MELA-AU 7 38603406 38603406 single base substitution C T intron_variant MELA-AU 7 38603565 38603565 single base substitution C T intron_variant MELA-AU 7 38603881 38603881 single base substitution C T intron_variant MELA-AU 7 38604108 38604108 single base substitution C T intron_variant MELA-AU 7 38604136 38604136 single base substitution G A intron_variant MELA-AU 7 38604174 38604174 single base substitution G A intron_variant MELA-AU 7 38604433 38604433 single base substitution G A intron_variant MELA-AU 7 38604509 38604509 single base substitution G A intron_variant MELA-AU 7 38604798 38604798 single base substitution A T intron_variant MELA-AU 7 38605069 38605069 single base substitution C T intron_variant MELA-AU 7 38605101 38605101 single base substitution C T intron_variant MELA-AU 7 38605110 38605110 single base substitution T A intron_variant MELA-AU 7 38605164 38605164 single base substitution G A intron_variant MELA-AU 7 38605254 38605254 single base substitution G A intron_variant MELA-AU 7 38605344 38605344 single base substitution G A intron_variant MELA-AU 7 38605681 38605681 single base substitution C T intron_variant MELA-AU 7 38606507 38606507 single base substitution G T intron_variant MELA-AU 7 38606596 38606596 single base substitution C T intron_variant MELA-AU 7 38606653 38606653 single base substitution G A intron_variant MELA-AU 7 38606754 38606754 single base substitution G A intron_variant MELA-AU 7 38606826 38606826 single base substitution C T intron_variant MELA-AU 7 38606846 38606846 single base substitution G A intron_variant MELA-AU 7 38607152 38607152 single base substitution A G intron_variant MELA-AU 7 38607169 38607169 single base substitution G A intron_variant MELA-AU 7 38607170 38607170 single base substitution A C intron_variant MELA-AU 7 38607360 38607360 single base substitution G A intron_variant MELA-AU 7 38607378 38607378 single base substitution G A intron_variant MELA-AU 7 38607557 38607557 single base substitution T G intron_variant MELA-AU 7 38607856 38607856 single base substitution G A intron_variant MELA-AU 7 38607861 38607861 single base substitution C T intron_variant MELA-AU 7 38608172 38608172 single base substitution G A intron_variant MELA-AU 7 38608409 38608409 single base substitution G A intron_variant MELA-AU 7 38608893 38608893 single base substitution G A intron_variant MELA-AU 7 38609112 38609112 single base substitution G A intron_variant MELA-AU 7 38609299 38609299 single base substitution G A intron_variant MELA-AU 7 38609749 38609749 single base substitution T C intron_variant MELA-AU 7 38609980 38609980 single base substitution G A intron_variant MELA-AU 7 38610073 38610073 single base substitution G T intron_variant MELA-AU 7 38610301 38610301 single base substitution G A intron_variant MELA-AU 7 38610400 38610400 single base substitution G A intron_variant MELA-AU 7 38610542 38610542 single base substitution T G intron_variant MELA-AU 7 38611284 38611284 single base substitution T A intron_variant MELA-AU 7 38611719 38611719 single base substitution G A intron_variant MELA-AU 7 38611720 38611720 single base substitution G A intron_variant MELA-AU 7 38611901 38611901 single base substitution G A intron_variant MELA-AU 7 38611942 38611942 single base substitution G A intron_variant MELA-AU 7 38612095 38612095 single base substitution G A intron_variant MELA-AU 7 38612096 38612096 single base substitution G A intron_variant MELA-AU 7 38612171 38612171 single base substitution T G intron_variant MELA-AU 7 38612205 38612205 single base substitution T C intron_variant MELA-AU 7 38612410 38612410 single base substitution G A intron_variant MELA-AU 7 38612474 38612474 single base substitution G A intron_variant MELA-AU 7 38613270 38613270 single base substitution A T intron_variant MELA-AU 7 38613342 38613342 single base substitution C T intron_variant MELA-AU 7 38613346 38613346 single base substitution G A intron_variant MELA-AU 7 38613497 38613497 single base substitution G A intron_variant MELA-AU 7 38613623 38613623 single base substitution C T intron_variant MELA-AU 7 38613711 38613711 single base substitution C T intron_variant MELA-AU 7 38613788 38613788 single base substitution C T intron_variant MELA-AU 7 38613999 38613999 single base substitution G A intron_variant MELA-AU 7 38614051 38614051 single base substitution A C intron_variant MELA-AU 7 38614166 38614166 single base substitution G A intron_variant MELA-AU 7 38614225 38614225 single base substitution G A intron_variant MELA-AU 7 38614783 38614783 single base substitution C T intron_variant MELA-AU 7 38614811 38614811 single base substitution G A intron_variant MELA-AU 7 38614862 38614862 single base substitution A G intron_variant MELA-AU 7 38615061 38615061 single base substitution G A intron_variant MELA-AU 7 38615312 38615312 single base substitution C T intron_variant MELA-AU 7 38615470 38615470 single base substitution G A intron_variant MELA-AU 7 38615523 38615523 single base substitution G A intron_variant MELA-AU 7 38615652 38615652 single base substitution G A intron_variant MELA-AU 7 38615805 38615805 single base substitution G A intron_variant MELA-AU 7 38615909 38615909 single base substitution C T intron_variant MELA-AU 7 38615958 38615958 single base substitution C T intron_variant MELA-AU 7 38615993 38615993 single base substitution A T intron_variant MELA-AU 7 38616002 38616002 single base substitution G A intron_variant MELA-AU 7 38616036 38616036 single base substitution T G intron_variant MELA-AU 7 38616120 38616120 single base substitution G A intron_variant MELA-AU 7 38616545 38616545 single base substitution G A intron_variant MELA-AU 7 38616614 38616614 single base substitution G A intron_variant MELA-AU 7 38616624 38616624 single base substitution G A intron_variant MELA-AU 7 38616735 38616735 single base substitution G A intron_variant MELA-AU 7 38617246 38617246 single base substitution G A intron_variant MELA-AU 7 38617266 38617266 single base substitution G A intron_variant MELA-AU 7 38617324 38617324 single base substitution G A intron_variant MELA-AU 7 38617345 38617345 single base substitution G A intron_variant MELA-AU 7 38617360 38617360 single base substitution G A intron_variant MELA-AU 7 38617365 38617365 single base substitution G A intron_variant MELA-AU 7 38617423 38617423 single base substitution G A intron_variant MELA-AU 7 38617510 38617510 single base substitution C G intron_variant MELA-AU 7 38617637 38617637 single base substitution G A intron_variant MELA-AU 7 38617807 38617807 single base substitution G A intron_variant MELA-AU 7 38618039 38618039 single base substitution G A intron_variant MELA-AU 7 38618135 38618135 single base substitution G A intron_variant MELA-AU 7 38618154 38618154 single base substitution G A intron_variant MELA-AU 7 38618185 38618185 single base substitution G A intron_variant MELA-AU 7 38618669 38618669 single base substitution C T intron_variant MELA-AU 7 38618672 38618672 single base substitution G A intron_variant MELA-AU 7 38618695 38618695 single base substitution G A intron_variant MELA-AU 7 38618809 38618809 single base substitution G A intron_variant MELA-AU 7 38618853 38618853 single base substitution G A intron_variant MELA-AU 7 38618915 38618915 single base substitution G A intron_variant MELA-AU 7 38618973 38618973 single base substitution C T intron_variant MELA-AU 7 38619247 38619247 single base substitution T C intron_variant MELA-AU 7 38619716 38619716 single base substitution G A intron_variant MELA-AU 7 38619787 38619787 single base substitution T A intron_variant MELA-AU 7 38619801 38619801 single base substitution G A intron_variant MELA-AU 7 38619945 38619945 single base substitution G A intron_variant MELA-AU 7 38620071 38620071 single base substitution C T intron_variant MELA-AU 7 38620087 38620087 single base substitution C T intron_variant MELA-AU 7 38620163 38620163 single base substitution G A intron_variant MELA-AU 7 38620571 38620571 single base substitution C T intron_variant MELA-AU 7 38620899 38620899 single base substitution G A intron_variant MELA-AU 7 38621267 38621267 single base substitution G A intron_variant MELA-AU 7 38621457 38621457 single base substitution G A intron_variant MELA-AU 7 38621871 38621871 single base substitution G A intron_variant MELA-AU 7 38621917 38621917 single base substitution T C intron_variant MELA-AU 7 38621995 38621995 single base substitution G A intron_variant MELA-AU 7 38622008 38622008 single base substitution G A intron_variant MELA-AU 7 38622041 38622041 single base substitution G A intron_variant MELA-AU 7 38622251 38622251 single base substitution C T intron_variant MELA-AU 7 38622254 38622254 single base substitution T C intron_variant MELA-AU 7 38622526 38622526 single base substitution G A intron_variant MELA-AU 7 38622714 38622714 single base substitution G A intron_variant MELA-AU 7 38622797 38622797 single base substitution G A intron_variant MELA-AU 7 38623297 38623297 single base substitution G A intron_variant MELA-AU 7 38623865 38623865 single base substitution A G intron_variant MELA-AU 7 38623886 38623886 single base substitution C T intron_variant MELA-AU 7 38623969 38623969 single base substitution C T intron_variant MELA-AU 7 38624168 38624168 single base substitution C T intron_variant MELA-AU 7 38624247 38624247 single base substitution G A intron_variant MELA-AU 7 38624323 38624324 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 7 38624329 38624329 single base substitution G A intron_variant MELA-AU 7 38624338 38624338 single base substitution C T intron_variant MELA-AU 7 38624420 38624420 single base substitution A G intron_variant MELA-AU 7 38624596 38624597 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 38624718 38624718 single base substitution T A intron_variant MELA-AU 7 38624910 38624910 single base substitution C T intron_variant MELA-AU 7 38625299 38625300 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 38625308 38625308 single base substitution C T intron_variant MELA-AU 7 38625448 38625448 single base substitution A G intron_variant MELA-AU 7 38625684 38625684 single base substitution C A intron_variant MELA-AU 7 38625689 38625689 single base substitution G A intron_variant MELA-AU 7 38625735 38625735 single base substitution C T intron_variant MELA-AU 7 38625773 38625773 single base substitution G A intron_variant MELA-AU 7 38625835 38625835 single base substitution C T intron_variant MELA-AU 7 38626040 38626040 single base substitution C G intron_variant MELA-AU 7 38626130 38626130 single base substitution G A intron_variant MELA-AU 7 38626153 38626153 single base substitution G A intron_variant MELA-AU 7 38626379 38626379 single base substitution C T intron_variant MELA-AU 7 38626387 38626387 single base substitution C T intron_variant MELA-AU 7 38626430 38626430 single base substitution G A intron_variant MELA-AU 7 38626767 38626767 single base substitution G A intron_variant MELA-AU 7 38626850 38626850 single base substitution A T intron_variant MELA-AU 7 38626903 38626903 single base substitution G A intron_variant MELA-AU 7 38627007 38627007 single base substitution C T intron_variant MELA-AU 7 38627103 38627103 single base substitution G A intron_variant MELA-AU 7 38627279 38627279 single base substitution G A intron_variant MELA-AU 7 38627327 38627327 single base substitution C T intron_variant MELA-AU 7 38627404 38627404 single base substitution C T intron_variant MELA-AU 7 38627442 38627442 single base substitution C T intron_variant MELA-AU 7 38627452 38627452 single base substitution C T intron_variant MELA-AU 7 38627636 38627636 single base substitution C T intron_variant MELA-AU 7 38627655 38627655 single base substitution G A intron_variant MELA-AU 7 38627675 38627675 single base substitution C T intron_variant MELA-AU 7 38627754 38627754 single base substitution A G intron_variant MELA-AU 7 38628093 38628094 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 38628179 38628179 single base substitution G A intron_variant MELA-AU 7 38628411 38628411 single base substitution G A intron_variant MELA-AU 7 38628627 38628627 single base substitution A T intron_variant MELA-AU 7 38628788 38628788 single base substitution C T intron_variant MELA-AU 7 38629436 38629436 single base substitution A T intron_variant MELA-AU 7 38629608 38629608 single base substitution G A intron_variant MELA-AU 7 38629710 38629710 single base substitution G A intron_variant MELA-AU 7 38629740 38629740 single base substitution G A intron_variant MELA-AU 7 38629913 38629913 single base substitution C T intron_variant MELA-AU 7 38630074 38630074 single base substitution T A intron_variant MELA-AU 7 38630080 38630080 single base substitution G A intron_variant MELA-AU 7 38630118 38630119 multiple base substitution (>=2bp and <=200bp) GG TT intron_variant MELA-AU 7 38630119 38630119 single base substitution G A intron_variant MELA-AU 7 38630121 38630121 single base substitution G A intron_variant MELA-AU 7 38630150 38630150 single base substitution G A intron_variant MELA-AU 7 38630171 38630171 single base substitution C T intron_variant MELA-AU 7 38630199 38630199 single base substitution G A intron_variant MELA-AU 7 38630490 38630490 deletion of <=200bp A - intron_variant MELA-AU 7 38630549 38630549 single base substitution G A intron_variant MELA-AU 7 38630848 38630848 single base substitution G A intron_variant MELA-AU 7 38631280 38631280 single base substitution C T intron_variant MELA-AU 7 38631292 38631292 single base substitution A T intron_variant MELA-AU 7 38631361 38631361 single base substitution C T intron_variant MELA-AU 7 38631554 38631554 single base substitution G A intron_variant MELA-AU 7 38631650 38631650 single base substitution A T intron_variant MELA-AU 7 38631761 38631761 single base substitution C T intron_variant MELA-AU 7 38631808 38631808 single base substitution C T intron_variant MELA-AU 7 38631842 38631842 single base substitution G A intron_variant MELA-AU 7 38631934 38631935 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 38631935 38631935 single base substitution C T intron_variant MELA-AU 7 38632152 38632152 single base substitution G A intron_variant MELA-AU 7 38632247 38632247 single base substitution C T intron_variant MELA-AU 7 38632350 38632350 single base substitution C T intron_variant MELA-AU 7 38632436 38632436 single base substitution G A intron_variant MELA-AU 7 38632618 38632618 single base substitution G A intron_variant MELA-AU 7 38632763 38632763 single base substitution G A intron_variant MELA-AU 7 38633078 38633078 single base substitution A G intron_variant MELA-AU 7 38633116 38633116 single base substitution C T intron_variant MELA-AU 7 38633476 38633476 single base substitution G A intron_variant MELA-AU 7 38633505 38633505 single base substitution G A intron_variant MELA-AU 7 38633506 38633506 single base substitution G A intron_variant MELA-AU 7 38633748 38633748 single base substitution G A intron_variant MELA-AU 7 38633945 38633945 single base substitution G A intron_variant MELA-AU 7 38634026 38634026 single base substitution C T intron_variant MELA-AU 7 38634091 38634091 single base substitution G A intron_variant MELA-AU 7 38634094 38634094 single base substitution C A intron_variant MELA-AU 7 38634135 38634135 single base substitution C T intron_variant MELA-AU 7 38634378 38634378 single base substitution C T intron_variant MELA-AU 7 38634713 38634714 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 38634715 38634715 single base substitution G A intron_variant MELA-AU 7 38634722 38634722 single base substitution G A intron_variant MELA-AU 7 38634723 38634723 single base substitution G A intron_variant MELA-AU 7 38635018 38635018 single base substitution C T intron_variant MELA-AU 7 38635056 38635056 single base substitution G A intron_variant MELA-AU 7 38635106 38635106 single base substitution C T intron_variant MELA-AU 7 38635176 38635176 single base substitution C T intron_variant MELA-AU 7 38635482 38635482 single base substitution G T intron_variant MELA-AU 7 38635541 38635541 single base substitution C T intron_variant MELA-AU 7 38635565 38635565 single base substitution A T intron_variant MELA-AU 7 38635742 38635742 single base substitution G A intron_variant MELA-AU 7 38635826 38635826 single base substitution G A intron_variant MELA-AU 7 38635884 38635884 single base substitution T C intron_variant MELA-AU 7 38635917 38635917 single base substitution G A intron_variant MELA-AU 7 38635997 38635997 single base substitution G A intron_variant MELA-AU 7 38636266 38636266 single base substitution G A intron_variant MELA-AU 7 38636486 38636487 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 38637404 38637404 single base substitution T C intron_variant MELA-AU 7 38637532 38637532 single base substitution C T intron_variant MELA-AU 7 38638203 38638203 single base substitution T C intron_variant MELA-AU 7 38638228 38638228 single base substitution C T intron_variant MELA-AU 7 38638660 38638660 single base substitution C T intron_variant MELA-AU 7 38638853 38638853 single base substitution C T intron_variant MELA-AU 7 38638981 38638981 single base substitution C T intron_variant MELA-AU 7 38639182 38639182 single base substitution G C intron_variant MELA-AU 7 38639330 38639330 single base substitution G A intron_variant MELA-AU 7 38639744 38639744 single base substitution C T intron_variant MELA-AU 7 38639855 38639855 single base substitution A G intron_variant MELA-AU 7 38640192 38640192 single base substitution G A intron_variant MELA-AU 7 38640290 38640290 single base substitution C T intron_variant MELA-AU 7 38640575 38640575 single base substitution A G intron_variant MELA-AU 7 38640855 38640855 single base substitution C A intron_variant MELA-AU 7 38640858 38640858 single base substitution G A intron_variant MELA-AU 7 38640894 38640894 single base substitution C T intron_variant MELA-AU 7 38641013 38641013 single base substitution T A intron_variant MELA-AU 7 38641210 38641210 single base substitution C T intron_variant MELA-AU 7 38641513 38641513 single base substitution C T intron_variant MELA-AU 7 38641576 38641576 single base substitution G A intron_variant MELA-AU 7 38641630 38641630 single base substitution G A intron_variant MELA-AU 7 38641773 38641773 single base substitution G A intron_variant MELA-AU 7 38641847 38641847 single base substitution C T intron_variant MELA-AU 7 38641901 38641901 single base substitution C T intron_variant MELA-AU 7 38642003 38642003 single base substitution C T intron_variant MELA-AU 7 38642240 38642240 single base substitution G A intron_variant MELA-AU 7 38642307 38642307 single base substitution G A intron_variant MELA-AU 7 38642314 38642314 single base substitution G A intron_variant MELA-AU 7 38642424 38642424 single base substitution C T intron_variant MELA-AU 7 38642463 38642463 single base substitution G A intron_variant MELA-AU 7 38642506 38642506 single base substitution G A intron_variant MELA-AU 7 38642655 38642655 single base substitution C T intron_variant MELA-AU 7 38642737 38642737 single base substitution G A intron_variant MELA-AU 7 38642960 38642960 single base substitution C T intron_variant MELA-AU 7 38642967 38642967 single base substitution G A intron_variant MELA-AU 7 38643200 38643200 single base substitution G A intron_variant MELA-AU 7 38643229 38643229 single base substitution G A intron_variant MELA-AU 7 38643280 38643280 single base substitution C T intron_variant MELA-AU 7 38643459 38643459 deletion of <=200bp C - intron_variant MELA-AU 7 38643459 38643459 single base substitution C T intron_variant MELA-AU 7 38644044 38644044 single base substitution G A intron_variant MELA-AU 7 38644054 38644054 single base substitution G A intron_variant MELA-AU 7 38644066 38644066 single base substitution G A intron_variant MELA-AU 7 38644227 38644227 single base substitution C T intron_variant MELA-AU 7 38644339 38644339 single base substitution C T intron_variant MELA-AU 7 38644578 38644578 single base substitution G A intron_variant MELA-AU 7 38644617 38644617 single base substitution T A intron_variant MELA-AU 7 38644702 38644702 single base substitution C T intron_variant MELA-AU 7 38644721 38644721 single base substitution G A intron_variant MELA-AU 7 38644885 38644885 single base substitution G A intron_variant MELA-AU 7 38645135 38645135 single base substitution C T intron_variant MELA-AU 7 38645206 38645206 single base substitution C T intron_variant MELA-AU 7 38645415 38645415 single base substitution C T intron_variant MELA-AU 7 38645440 38645440 single base substitution T G intron_variant MELA-AU 7 38645485 38645485 single base substitution T G intron_variant MELA-AU 7 38645527 38645527 single base substitution C T intron_variant MELA-AU 7 38645654 38645654 single base substitution G A intron_variant MELA-AU 7 38645732 38645732 single base substitution C T intron_variant MELA-AU 7 38645774 38645774 single base substitution G A intron_variant MELA-AU 7 38645933 38645933 single base substitution C T intron_variant MELA-AU 7 38645939 38645939 single base substitution C T intron_variant MELA-AU 7 38646253 38646253 single base substitution G A intron_variant MELA-AU 7 38646283 38646283 single base substitution C T intron_variant MELA-AU 7 38646389 38646389 single base substitution G A intron_variant MELA-AU 7 38646463 38646463 single base substitution C T intron_variant MELA-AU 7 38646711 38646711 single base substitution C T intron_variant MELA-AU 7 38646942 38646942 single base substitution C T intron_variant MELA-AU 7 38647227 38647227 single base substitution C T intron_variant MELA-AU 7 38647326 38647326 single base substitution G A intron_variant MELA-AU 7 38648029 38648029 single base substitution C G intron_variant MELA-AU 7 38648394 38648394 single base substitution G A intron_variant MELA-AU 7 38648477 38648477 single base substitution G A intron_variant MELA-AU 7 38648823 38648823 single base substitution G A intron_variant MELA-AU 7 38648903 38648903 single base substitution C T intron_variant MELA-AU 7 38648981 38648981 single base substitution C T intron_variant MELA-AU 7 38649136 38649136 single base substitution G A intron_variant MELA-AU 7 38649415 38649415 single base substitution G A intron_variant MELA-AU 7 38649634 38649634 single base substitution C T intron_variant MELA-AU 7 38649812 38649812 single base substitution G A intron_variant MELA-AU 7 38649823 38649823 single base substitution C T intron_variant MELA-AU 7 38649899 38649899 single base substitution A T intron_variant MELA-AU 7 38650013 38650013 single base substitution A C intron_variant MELA-AU 7 38650135 38650135 single base substitution A T intron_variant MELA-AU 7 38651220 38651220 single base substitution A C intron_variant MELA-AU 7 38651297 38651297 single base substitution G A intron_variant MELA-AU 7 38651482 38651482 single base substitution G A intron_variant MELA-AU 7 38651532 38651532 single base substitution G A intron_variant MELA-AU 7 38651564 38651564 single base substitution G A intron_variant MELA-AU 7 38651812 38651812 single base substitution G A intron_variant MELA-AU 7 38651846 38651846 single base substitution C T intron_variant MELA-AU 7 38651945 38651945 single base substitution G A intron_variant MELA-AU 7 38652005 38652005 single base substitution G A intron_variant MELA-AU 7 38652158 38652158 single base substitution C T intron_variant MELA-AU 7 38652227 38652227 single base substitution G A intron_variant MELA-AU 7 38652378 38652378 single base substitution G A intron_variant MELA-AU 7 38652379 38652379 single base substitution G A intron_variant MELA-AU 7 38652494 38652494 single base substitution G A intron_variant MELA-AU 7 38652591 38652591 single base substitution G A intron_variant MELA-AU 7 38652760 38652760 single base substitution A G intron_variant MELA-AU 7 38652802 38652802 single base substitution C A intron_variant MELA-AU 7 38652952 38652952 single base substitution G A intron_variant MELA-AU 7 38653113 38653113 single base substitution G A intron_variant MELA-AU 7 38653394 38653394 single base substitution G A intron_variant MELA-AU 7 38653478 38653478 single base substitution G A intron_variant MELA-AU 7 38653788 38653788 single base substitution C T intron_variant MELA-AU 7 38653821 38653821 single base substitution G A intron_variant MELA-AU 7 38653877 38653877 single base substitution C T intron_variant MELA-AU 7 38653936 38653936 single base substitution G A intron_variant MELA-AU 7 38653962 38653962 single base substitution A T intron_variant MELA-AU 7 38654277 38654277 single base substitution G A intron_variant MELA-AU 7 38654480 38654480 single base substitution G A intron_variant MELA-AU 7 38654523 38654523 single base substitution G A intron_variant MELA-AU 7 38654537 38654537 single base substitution G A intron_variant MELA-AU 7 38654546 38654546 single base substitution G A intron_variant MELA-AU 7 38654854 38654854 single base substitution G A intron_variant MELA-AU 7 38655111 38655111 single base substitution G A intron_variant MELA-AU 7 38655246 38655246 single base substitution C T intron_variant MELA-AU 7 38655567 38655567 single base substitution C T intron_variant MELA-AU 7 38655758 38655758 single base substitution C T intron_variant MELA-AU 7 38655822 38655822 single base substitution C T intron_variant MELA-AU 7 38655935 38655935 single base substitution G A intron_variant MELA-AU 7 38655967 38655967 single base substitution T C intron_variant MELA-AU 7 38656050 38656050 single base substitution G A intron_variant MELA-AU 7 38656053 38656053 single base substitution G A intron_variant MELA-AU 7 38656085 38656085 single base substitution C T intron_variant MELA-AU 7 38656104 38656104 single base substitution A T intron_variant MELA-AU 7 38656326 38656326 single base substitution G A intron_variant MELA-AU 7 38656658 38656658 single base substitution G A intron_variant MELA-AU 7 38656795 38656795 single base substitution C T intron_variant MELA-AU 7 38657012 38657012 single base substitution C T intron_variant MELA-AU 7 38657443 38657443 single base substitution G A intron_variant MELA-AU 7 38657481 38657481 single base substitution G A intron_variant MELA-AU 7 38657638 38657638 single base substitution T G intron_variant MELA-AU 7 38658157 38658157 single base substitution G A intron_variant MELA-AU 7 38658231 38658231 single base substitution G A intron_variant MELA-AU 7 38658746 38658746 single base substitution C T intron_variant MELA-AU 7 38658763 38658763 single base substitution C T intron_variant MELA-AU 7 38658859 38658859 single base substitution G A intron_variant MELA-AU 7 38658943 38658943 single base substitution G A intron_variant MELA-AU 7 38659618 38659618 single base substitution G A intron_variant MELA-AU 7 38659623 38659623 single base substitution C T intron_variant MELA-AU 7 38659754 38659754 single base substitution C T intron_variant MELA-AU 7 38659758 38659758 single base substitution T A intron_variant MELA-AU 7 38659964 38659964 single base substitution C G intron_variant MELA-AU 7 38660521 38660521 single base substitution C A intron_variant MELA-AU 7 38660530 38660530 single base substitution G A intron_variant MELA-AU 7 38660745 38660745 single base substitution G A intron_variant MELA-AU 7 38661207 38661207 single base substitution G A intron_variant MELA-AU 7 38661411 38661411 single base substitution C T intron_variant MELA-AU 7 38661547 38661547 single base substitution C T intron_variant MELA-AU 7 38661693 38661693 single base substitution C T intron_variant MELA-AU 7 38662008 38662008 single base substitution G A intron_variant MELA-AU 7 38662054 38662054 single base substitution T C intron_variant MELA-AU 7 38662101 38662101 single base substitution G A intron_variant MELA-AU 7 38662324 38662324 single base substitution C T intron_variant MELA-AU 7 38662337 38662337 single base substitution G A intron_variant MELA-AU 7 38662473 38662473 single base substitution A G intron_variant MELA-AU 7 38662475 38662475 single base substitution C T intron_variant MELA-AU 7 38662568 38662568 single base substitution G A intron_variant MELA-AU 7 38662699 38662699 single base substitution G A intron_variant MELA-AU 7 38662783 38662783 single base substitution C T intron_variant MELA-AU 7 38663212 38663212 single base substitution G A intron_variant MELA-AU 7 38663280 38663280 single base substitution C T intron_variant MELA-AU 7 38663384 38663384 single base substitution A T intron_variant MELA-AU 7 38663410 38663410 single base substitution G A intron_variant MELA-AU 7 38663656 38663656 single base substitution G A intron_variant MELA-AU 7 38663692 38663692 single base substitution G A intron_variant MELA-AU 7 38664087 38664087 single base substitution C T intron_variant MELA-AU 7 38664213 38664214 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 7 38664296 38664296 single base substitution A T intron_variant MELA-AU 7 38664298 38664298 single base substitution T A intron_variant MELA-AU 7 38664465 38664465 single base substitution G A intron_variant MELA-AU 7 38664516 38664516 single base substitution G A intron_variant MELA-AU 7 38664538 38664538 single base substitution G A intron_variant MELA-AU 7 38664732 38664732 single base substitution G A intron_variant MELA-AU 7 38664855 38664855 single base substitution C T intron_variant MELA-AU 7 38665003 38665003 single base substitution T A intron_variant MELA-AU 7 38665311 38665311 single base substitution G A intron_variant MELA-AU 7 38665644 38665644 single base substitution G A intron_variant MELA-AU 7 38665709 38665709 single base substitution A T intron_variant MELA-AU 7 38665898 38665898 single base substitution T C intron_variant MELA-AU 7 38665959 38665959 single base substitution G A intron_variant MELA-AU 7 38665972 38665972 single base substitution G A intron_variant MELA-AU 7 38666043 38666043 single base substitution G A intron_variant MELA-AU 7 38666069 38666069 single base substitution T G intron_variant MELA-AU 7 38666152 38666152 single base substitution G A intron_variant MELA-AU 7 38666244 38666244 single base substitution C T intron_variant MELA-AU 7 38666330 38666330 single base substitution A T intron_variant MELA-AU 7 38666825 38666825 single base substitution G A intron_variant MELA-AU 7 38666926 38666926 single base substitution G A intron_variant MELA-AU 7 38666963 38666963 single base substitution G A intron_variant MELA-AU 7 38667202 38667202 single base substitution C T intron_variant MELA-AU 7 38667280 38667280 single base substitution G A intron_variant MELA-AU 7 38667470 38667470 single base substitution C T intron_variant MELA-AU 7 38667680 38667680 single base substitution C T intron_variant MELA-AU 7 38667816 38667816 single base substitution G A intron_variant MELA-AU 7 38668250 38668250 single base substitution T A intron_variant MELA-AU 7 38668474 38668474 single base substitution A T intron_variant MELA-AU 7 38668667 38668667 single base substitution G A intron_variant MELA-AU 7 38668832 38668832 single base substitution C T intron_variant MELA-AU 7 38668865 38668865 single base substitution G A intron_variant MELA-AU 7 38668875 38668875 single base substitution G A intron_variant MELA-AU 7 38668895 38668895 single base substitution G A intron_variant MELA-AU 7 38669052 38669052 single base substitution C T intron_variant MELA-AU 7 38669309 38669309 single base substitution G A intron_variant MELA-AU 7 38669462 38669462 single base substitution G A intron_variant MELA-AU 7 38669609 38669609 single base substitution G A intron_variant MELA-AU 7 38669977 38669977 single base substitution C T intron_variant MELA-AU 7 38670021 38670021 single base substitution C T intron_variant MELA-AU 7 38670439 38670439 single base substitution C T intron_variant MELA-AU 7 38670604 38670604 single base substitution C T intron_variant MELA-AU 7 38671440 38671440 single base substitution C T upstream_gene_variant MELA-AU 7 38671521 38671521 single base substitution C T upstream_gene_variant MELA-AU 7 38671723 38671724 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 38671870 38671870 single base substitution C A upstream_gene_variant MELA-AU 7 38671919 38671919 single base substitution G A upstream_gene_variant MELA-AU 7 38672321 38672321 single base substitution C T upstream_gene_variant MELA-AU 7 38672427 38672427 single base substitution T G upstream_gene_variant MELA-AU 7 38672536 38672536 single base substitution C T upstream_gene_variant MELA-AU 7 38672552 38672552 single base substitution C T upstream_gene_variant MELA-AU 7 38672739 38672739 single base substitution C T upstream_gene_variant MELA-AU 7 38672740 38672740 single base substitution C T upstream_gene_variant MELA-AU 7 38672780 38672780 single base substitution G A upstream_gene_variant MELA-AU 7 38673023 38673023 single base substitution T A upstream_gene_variant MELA-AU 7 38673253 38673253 single base substitution G A upstream_gene_variant MELA-AU 7 38673528 38673528 single base substitution C T upstream_gene_variant MELA-AU 7 38673830 38673830 single base substitution A T upstream_gene_variant MELA-AU 7 38674001 38674001 single base substitution G A upstream_gene_variant MELA-AU 7 38674340 38674340 single base substitution C T upstream_gene_variant MELA-AU 7 38674360 38674360 single base substitution G A upstream_gene_variant MELA-AU 7 38674435 38674435 single base substitution T G upstream_gene_variant MELA-AU 7 38674597 38674597 single base substitution G A upstream_gene_variant MELA-AU 7 38674666 38674666 single base substitution C T upstream_gene_variant MELA-AU 7 38674773 38674773 single base substitution G A upstream_gene_variant MELA-AU 7 38675058 38675058 single base substitution G A upstream_gene_variant MELA-AU 7 38675103 38675103 single base substitution C T upstream_gene_variant MELA-AU 7 38675104 38675104 single base substitution C T upstream_gene_variant MELA-AU 7 38675629 38675629 single base substitution C T upstream_gene_variant MELA-AU 7 38675764 38675764 single base substitution G A upstream_gene_variant MELA-AU 7 38675895 38675895 single base substitution G A upstream_gene_variant MELA-AU 7 38676006 38676006 single base substitution C T upstream_gene_variant MELA-AU 7 38676070 38676070 single base substitution G A upstream_gene_variant ORCA-IN 7 38422252 38422252 single base substitution C A downstream_gene_variant ORCA-IN 7 38425651 38425651 single base substitution T A downstream_gene_variant ORCA-IN 7 38425651 38425651 single base substitution T A intron_variant ORCA-IN 7 38441533 38441533 single base substitution C G intron_variant ORCA-IN 7 38449094 38449094 single base substitution C A intron_variant ORCA-IN 7 38468985 38468985 single base substitution C T intron_variant ORCA-IN 7 38468985 38468985 single base substitution C T missense_variant E209K 625G>A ORCA-IN 7 38468985 38468985 single base substitution C T upstream_gene_variant ORCA-IN 7 38483021 38483021 single base substitution C G intron_variant ORCA-IN 7 38484672 38484672 single base substitution T C intron_variant ORCA-IN 7 38498056 38498056 single base substitution C T intron_variant ORCA-IN 7 38516508 38516508 single base substitution T C missense_variant E153G 458A>G ORCA-IN 7 38517593 38517593 single base substitution C A intron_variant ORCA-IN 7 38553180 38553180 single base substitution T C intron_variant ORCA-IN 7 38562658 38562658 single base substitution C T intron_variant ORCA-IN 7 38564874 38564887 deletion of <=200bp ATATAGAGAGAGAG - intron_variant ORCA-IN 7 38571929 38571929 single base substitution G C intron_variant ORCA-IN 7 38579960 38579960 single base substitution T C intron_variant ORCA-IN 7 38582418 38582418 single base substitution G A intron_variant ORCA-IN 7 38600642 38600642 single base substitution G T intron_variant ORCA-IN 7 38602860 38602860 single base substitution G A intron_variant ORCA-IN 7 38610178 38610178 single base substitution A C intron_variant ORCA-IN 7 38615736 38615736 single base substitution G A intron_variant ORCA-IN 7 38626998 38626998 single base substitution G T intron_variant ORCA-IN 7 38627555 38627555 single base substitution T C intron_variant ORCA-IN 7 38646306 38646306 single base substitution G C intron_variant ORCA-IN 7 38660158 38660158 single base substitution C T intron_variant ORCA-IN 7 38667414 38667414 single base substitution A T intron_variant ORCA-IN 7 38673194 38673194 single base substitution G A upstream_gene_variant OV-AU 7 38422601 38422601 single base substitution C T downstream_gene_variant OV-AU 7 38433139 38433139 single base substitution A T downstream_gene_variant OV-AU 7 38433139 38433139 single base substitution A T intron_variant OV-AU 7 38433139 38433139 single base substitution A T upstream_gene_variant OV-AU 7 38435991 38435991 single base substitution C T intron_variant OV-AU 7 38435991 38435991 single base substitution C T upstream_gene_variant OV-AU 7 38438823 38438823 single base substitution G A intron_variant OV-AU 7 38440189 38440189 single base substitution T C intron_variant OV-AU 7 38440759 38440759 single base substitution T C intron_variant OV-AU 7 38443830 38443830 single base substitution G T intron_variant OV-AU 7 38445357 38445357 single base substitution T C intron_variant OV-AU 7 38451610 38451610 single base substitution G A intron_variant OV-AU 7 38452091 38452091 single base substitution G C intron_variant OV-AU 7 38453305 38453305 single base substitution T A intron_variant OV-AU 7 38454719 38454719 single base substitution A G intron_variant OV-AU 7 38455865 38455865 single base substitution G A intron_variant OV-AU 7 38456651 38456651 single base substitution A T intron_variant OV-AU 7 38457607 38457607 single base substitution C T exon_variant OV-AU 7 38457607 38457607 single base substitution C T intron_variant OV-AU 7 38459789 38459789 single base substitution A T intron_variant OV-AU 7 38459789 38459789 single base substitution A T upstream_gene_variant OV-AU 7 38460487 38460487 single base substitution G T intron_variant OV-AU 7 38460487 38460487 single base substitution G T upstream_gene_variant OV-AU 7 38466518 38466518 single base substitution C T intron_variant OV-AU 7 38467882 38467882 single base substitution G A exon_variant OV-AU 7 38467882 38467882 single base substitution G A intron_variant OV-AU 7 38470921 38470921 single base substitution C T intron_variant OV-AU 7 38470921 38470921 single base substitution C T upstream_gene_variant OV-AU 7 38471191 38471191 single base substitution G A intron_variant OV-AU 7 38471191 38471191 single base substitution G A upstream_gene_variant OV-AU 7 38472831 38472831 single base substitution G C intron_variant OV-AU 7 38472831 38472831 single base substitution G C upstream_gene_variant OV-AU 7 38475691 38475691 single base substitution A T intron_variant OV-AU 7 38477442 38477442 single base substitution G A intron_variant OV-AU 7 38490134 38490134 single base substitution C G intron_variant OV-AU 7 38490227 38490227 single base substitution T C intron_variant OV-AU 7 38493141 38493141 single base substitution A G intron_variant OV-AU 7 38495113 38495113 single base substitution A G intron_variant OV-AU 7 38500912 38500912 single base substitution G C missense_variant P330A 988C>G OV-AU 7 38500912 38500912 single base substitution G C missense_variant P80A 238C>G OV-AU 7 38501108 38501108 single base substitution T A intron_variant OV-AU 7 38503701 38503701 single base substitution C T intron_variant OV-AU 7 38503701 38503701 single base substitution C T upstream_gene_variant OV-AU 7 38505006 38505006 single base substitution A G intron_variant OV-AU 7 38505006 38505006 single base substitution A G upstream_gene_variant OV-AU 7 38508002 38508002 single base substitution G A intron_variant OV-AU 7 38508827 38508827 single base substitution G C intron_variant OV-AU 7 38510166 38510166 single base substitution C G intron_variant OV-AU 7 38511550 38511550 single base substitution C G intron_variant OV-AU 7 38513703 38513703 single base substitution G C intron_variant OV-AU 7 38514224 38514224 single base substitution C T intron_variant OV-AU 7 38515270 38515270 single base substitution T C intron_variant OV-AU 7 38515272 38515272 single base substitution A G intron_variant OV-AU 7 38515779 38515779 single base substitution T C intron_variant OV-AU 7 38517766 38517766 single base substitution G C intron_variant OV-AU 7 38518492 38518492 single base substitution G A intron_variant OV-AU 7 38518741 38518741 single base substitution C A intron_variant OV-AU 7 38531915 38531915 single base substitution G A intron_variant OV-AU 7 38537576 38537576 single base substitution T C intron_variant OV-AU 7 38538476 38538476 single base substitution G C intron_variant OV-AU 7 38539594 38539594 single base substitution T A intron_variant OV-AU 7 38540303 38540303 single base substitution G A intron_variant OV-AU 7 38545739 38545739 single base substitution C T intron_variant OV-AU 7 38546399 38546399 single base substitution A T intron_variant OV-AU 7 38552745 38552745 single base substitution A T intron_variant OV-AU 7 38553178 38553178 single base substitution A G intron_variant OV-AU 7 38558766 38558766 single base substitution T G intron_variant OV-AU 7 38566308 38566308 single base substitution G C intron_variant OV-AU 7 38567918 38567918 single base substitution A T intron_variant OV-AU 7 38568226 38568226 single base substitution C T intron_variant OV-AU 7 38569416 38569416 single base substitution G A intron_variant OV-AU 7 38571318 38571318 single base substitution A T intron_variant OV-AU 7 38576277 38576277 single base substitution T A intron_variant OV-AU 7 38578546 38578546 single base substitution A C intron_variant OV-AU 7 38578706 38578706 single base substitution G C intron_variant OV-AU 7 38580322 38580322 single base substitution C G intron_variant OV-AU 7 38581089 38581089 single base substitution C T intron_variant OV-AU 7 38586051 38586051 single base substitution T G intron_variant OV-AU 7 38590149 38590149 single base substitution A T intron_variant OV-AU 7 38602240 38602240 single base substitution G A intron_variant OV-AU 7 38602798 38602798 single base substitution C A intron_variant OV-AU 7 38603043 38603043 single base substitution G C intron_variant OV-AU 7 38605638 38605638 single base substitution A T intron_variant OV-AU 7 38606059 38606059 single base substitution G A intron_variant OV-AU 7 38606080 38606080 single base substitution G C intron_variant OV-AU 7 38614955 38614955 single base substitution G T intron_variant OV-AU 7 38615173 38615173 single base substitution C T intron_variant OV-AU 7 38615491 38615491 single base substitution A G intron_variant OV-AU 7 38617899 38617899 single base substitution A G intron_variant OV-AU 7 38620639 38620639 single base substitution C A intron_variant OV-AU 7 38624059 38624059 single base substitution G C intron_variant OV-AU 7 38628329 38628329 single base substitution A G intron_variant OV-AU 7 38630109 38630109 single base substitution G C intron_variant OV-AU 7 38632157 38632157 single base substitution C A intron_variant OV-AU 7 38633682 38633682 single base substitution G A intron_variant OV-AU 7 38637698 38637698 single base substitution G C intron_variant OV-AU 7 38639341 38639341 single base substitution G A intron_variant OV-AU 7 38642262 38642262 single base substitution A C intron_variant OV-AU 7 38648121 38648121 single base substitution C T intron_variant OV-AU 7 38654013 38654013 single base substitution T A intron_variant OV-AU 7 38655473 38655473 single base substitution G A intron_variant OV-AU 7 38660134 38660134 single base substitution T C intron_variant OV-AU 7 38663407 38663407 single base substitution A T intron_variant OV-AU 7 38663507 38663507 single base substitution C A intron_variant OV-AU 7 38664866 38664866 single base substitution T C intron_variant OV-AU 7 38668988 38668988 single base substitution A G intron_variant OV-AU 7 38671405 38671405 single base substitution G C upstream_gene_variant OV-AU 7 38674443 38674443 single base substitution A C upstream_gene_variant OV-US 7 38429468 38429468 single base substitution A G downstream_gene_variant OV-US 7 38429468 38429468 single base substitution A G exon_variant OV-US 7 38429468 38429468 single base substitution A G synonymous_variant D521D 1563T>C OV-US 7 38429468 38429468 single base substitution A G synonymous_variant D597D 1791T>C OV-US 7 38429468 38429468 single base substitution A G synonymous_variant D639D 1917T>C PACA-AU 7 38419866 38419866 single base substitution G A downstream_gene_variant PACA-AU 7 38420400 38420400 single base substitution C T downstream_gene_variant PACA-AU 7 38420902 38420902 single base substitution C T downstream_gene_variant PACA-AU 7 38422930 38422930 single base substitution C A downstream_gene_variant PACA-AU 7 38422988 38422988 single base substitution G T downstream_gene_variant PACA-AU 7 38423897 38423897 single base substitution G A 3_prime_UTR_variant PACA-AU 7 38423897 38423897 single base substitution G A downstream_gene_variant PACA-AU 7 38423917 38423917 single base substitution A G 3_prime_UTR_variant PACA-AU 7 38423917 38423917 single base substitution A G downstream_gene_variant PACA-AU 7 38425738 38425738 single base substitution G A downstream_gene_variant PACA-AU 7 38425738 38425738 single base substitution G A intron_variant PACA-AU 7 38428420 38428420 single base substitution T A downstream_gene_variant PACA-AU 7 38428420 38428420 single base substitution T A intron_variant PACA-AU 7 38428857 38428857 single base substitution C A downstream_gene_variant PACA-AU 7 38428857 38428857 single base substitution C A intron_variant PACA-AU 7 38430564 38430564 single base substitution G A downstream_gene_variant PACA-AU 7 38430564 38430564 single base substitution G A intron_variant PACA-AU 7 38430568 38430568 single base substitution G C downstream_gene_variant PACA-AU 7 38430568 38430568 single base substitution G C intron_variant PACA-AU 7 38430897 38430897 single base substitution C T downstream_gene_variant PACA-AU 7 38430897 38430897 single base substitution C T intron_variant PACA-AU 7 38431647 38431647 single base substitution G A downstream_gene_variant PACA-AU 7 38431647 38431647 single base substitution G A intron_variant PACA-AU 7 38434175 38434175 single base substitution G T intron_variant PACA-AU 7 38434175 38434175 single base substitution G T upstream_gene_variant PACA-AU 7 38440418 38440418 single base substitution T A intron_variant PACA-AU 7 38440709 38440709 single base substitution T G intron_variant PACA-AU 7 38442115 38442115 single base substitution G C intron_variant PACA-AU 7 38442646 38442646 single base substitution T G intron_variant PACA-AU 7 38443250 38443250 single base substitution G T intron_variant PACA-AU 7 38443686 38443686 single base substitution C A intron_variant PACA-AU 7 38445997 38445997 single base substitution A C intron_variant PACA-AU 7 38446008 38446008 single base substitution C T intron_variant PACA-AU 7 38449681 38449681 single base substitution A G intron_variant PACA-AU 7 38452859 38452859 single base substitution T C intron_variant PACA-AU 7 38457879 38457879 single base substitution T C intron_variant PACA-AU 7 38457879 38457879 single base substitution T C upstream_gene_variant PACA-AU 7 38459803 38459803 single base substitution A C intron_variant PACA-AU 7 38459803 38459803 single base substitution A C upstream_gene_variant PACA-AU 7 38463052 38463052 single base substitution G C intron_variant PACA-AU 7 38463989 38463989 single base substitution A G intron_variant PACA-AU 7 38466416 38466416 single base substitution C A intron_variant PACA-AU 7 38469116 38469116 single base substitution C T intron_variant PACA-AU 7 38469116 38469116 single base substitution C T missense_variant G165E 494G>A PACA-AU 7 38469116 38469116 single base substitution C T upstream_gene_variant PACA-AU 7 38470599 38470599 single base substitution A G intron_variant PACA-AU 7 38470599 38470599 single base substitution A G upstream_gene_variant PACA-AU 7 38470817 38470817 single base substitution G C intron_variant PACA-AU 7 38470817 38470817 single base substitution G C upstream_gene_variant PACA-AU 7 38471619 38471619 single base substitution C T intron_variant PACA-AU 7 38471619 38471619 single base substitution C T upstream_gene_variant PACA-AU 7 38473614 38473614 single base substitution C G intron_variant PACA-AU 7 38473614 38473614 single base substitution C G upstream_gene_variant PACA-AU 7 38475881 38475881 single base substitution G T synonymous_variant P125P 375C>A PACA-AU 7 38475881 38475881 single base substitution G T synonymous_variant P375P 1125C>A PACA-AU 7 38477546 38477546 single base substitution G T intron_variant PACA-AU 7 38481249 38481249 single base substitution G A intron_variant PACA-AU 7 38492754 38492754 single base substitution C T intron_variant PACA-AU 7 38492763 38492763 single base substitution A T intron_variant PACA-AU 7 38493556 38493556 single base substitution A G intron_variant PACA-AU 7 38495561 38495561 single base substitution A C intron_variant PACA-AU 7 38496672 38496672 single base substitution C A intron_variant PACA-AU 7 38500946 38500946 single base substitution C A missense_variant E318D 954G>T PACA-AU 7 38500946 38500946 single base substitution C A missense_variant E68D 204G>T PACA-AU 7 38501817 38501817 single base substitution C T intron_variant PACA-AU 7 38503489 38503489 single base substitution A T intron_variant PACA-AU 7 38503489 38503489 single base substitution A T upstream_gene_variant PACA-AU 7 38505698 38505698 single base substitution C A intron_variant PACA-AU 7 38505698 38505698 single base substitution C A upstream_gene_variant PACA-AU 7 38510748 38510748 single base substitution C A intron_variant PACA-AU 7 38513444 38513444 single base substitution A G intron_variant PACA-AU 7 38514903 38514903 single base substitution T C intron_variant PACA-AU 7 38515297 38515297 single base substitution G T intron_variant PACA-AU 7 38521857 38521857 single base substitution C A intron_variant PACA-AU 7 38522006 38522006 single base substitution A C intron_variant PACA-AU 7 38523504 38523504 single base substitution A G intron_variant PACA-AU 7 38524969 38524969 single base substitution A G intron_variant PACA-AU 7 38526027 38526027 single base substitution G T intron_variant PACA-AU 7 38526267 38526267 insertion of <=200bp - A intron_variant PACA-AU 7 38527488 38527488 single base substitution G C intron_variant PACA-AU 7 38528584 38528584 single base substitution T G intron_variant PACA-AU 7 38529006 38529006 insertion of <=200bp - A intron_variant PACA-AU 7 38529390 38529390 single base substitution A T intron_variant PACA-AU 7 38531288 38531288 single base substitution T G intron_variant PACA-AU 7 38531321 38531321 single base substitution G C intron_variant PACA-AU 7 38533701 38533701 single base substitution C T intron_variant PACA-AU 7 38533857 38533857 single base substitution C A intron_variant PACA-AU 7 38534076 38534076 single base substitution T A missense_variant E86V 257A>T PACA-AU 7 38534663 38534663 insertion of <=200bp - T intron_variant PACA-AU 7 38535270 38535270 single base substitution G T intron_variant PACA-AU 7 38536480 38536480 single base substitution A T intron_variant PACA-AU 7 38537658 38537658 insertion of <=200bp - TTCACATG intron_variant PACA-AU 7 38540940 38540940 single base substitution G A intron_variant PACA-AU 7 38542417 38542417 single base substitution T C intron_variant PACA-AU 7 38545842 38545842 single base substitution A T intron_variant PACA-AU 7 38546810 38546810 single base substitution A T intron_variant PACA-AU 7 38548405 38548405 single base substitution T A intron_variant PACA-AU 7 38550124 38550124 single base substitution G A intron_variant PACA-AU 7 38551545 38551545 single base substitution C T intron_variant PACA-AU 7 38553945 38553945 single base substitution A C intron_variant PACA-AU 7 38554050 38554050 single base substitution G T intron_variant PACA-AU 7 38554596 38554596 single base substitution C A intron_variant PACA-AU 7 38555844 38555844 single base substitution G A intron_variant PACA-AU 7 38556406 38556406 single base substitution C G intron_variant PACA-AU 7 38558570 38558570 single base substitution G A intron_variant PACA-AU 7 38560355 38560355 single base substitution C T intron_variant PACA-AU 7 38560727 38560727 insertion of <=200bp - AATACAGAAAAATTCCA intron_variant PACA-AU 7 38560843 38560843 single base substitution G A intron_variant PACA-AU 7 38560920 38560920 single base substitution G A intron_variant PACA-AU 7 38562125 38562125 single base substitution C G intron_variant PACA-AU 7 38562565 38562565 single base substitution G A intron_variant PACA-AU 7 38562718 38562718 single base substitution A C intron_variant PACA-AU 7 38563042 38563042 single base substitution A G intron_variant PACA-AU 7 38564105 38564105 single base substitution C T intron_variant PACA-AU 7 38564135 38564135 single base substitution A G intron_variant PACA-AU 7 38565119 38565119 single base substitution G T intron_variant PACA-AU 7 38565888 38565888 single base substitution G C intron_variant PACA-AU 7 38566877 38566877 single base substitution A G intron_variant PACA-AU 7 38567246 38567246 single base substitution C T intron_variant PACA-AU 7 38568533 38568533 single base substitution T A intron_variant PACA-AU 7 38569232 38569232 single base substitution G T intron_variant PACA-AU 7 38570642 38570642 single base substitution G C intron_variant PACA-AU 7 38571323 38571323 single base substitution T G intron_variant PACA-AU 7 38572733 38572733 single base substitution C T intron_variant PACA-AU 7 38573757 38573757 single base substitution T C intron_variant PACA-AU 7 38574372 38574372 single base substitution G A intron_variant PACA-AU 7 38579149 38579149 single base substitution T G intron_variant PACA-AU 7 38579832 38579832 single base substitution C T intron_variant PACA-AU 7 38583396 38583396 single base substitution A C intron_variant PACA-AU 7 38584280 38584280 single base substitution T A intron_variant PACA-AU 7 38584550 38584550 single base substitution A T intron_variant PACA-AU 7 38585579 38585579 single base substitution C A intron_variant PACA-AU 7 38586284 38586284 single base substitution A C intron_variant PACA-AU 7 38588015 38588015 single base substitution G T intron_variant PACA-AU 7 38588086 38588086 single base substitution C A intron_variant PACA-AU 7 38589839 38589839 single base substitution C G intron_variant PACA-AU 7 38591125 38591125 single base substitution C A intron_variant PACA-AU 7 38591951 38591951 deletion of <=200bp T - intron_variant PACA-AU 7 38592942 38592942 single base substitution C T intron_variant PACA-AU 7 38593480 38593480 single base substitution C T intron_variant PACA-AU 7 38594127 38594127 single base substitution A G intron_variant PACA-AU 7 38595886 38595886 single base substitution C T intron_variant PACA-AU 7 38597360 38597360 single base substitution T G intron_variant PACA-AU 7 38598042 38598042 single base substitution G T intron_variant PACA-AU 7 38598331 38598331 single base substitution G A intron_variant PACA-AU 7 38598718 38598718 single base substitution G A intron_variant PACA-AU 7 38603094 38603094 single base substitution A G intron_variant PACA-AU 7 38603709 38603709 single base substitution A C intron_variant PACA-AU 7 38603888 38603888 single base substitution C T intron_variant PACA-AU 7 38605628 38605628 insertion of <=200bp - T intron_variant PACA-AU 7 38605924 38605924 single base substitution G C intron_variant PACA-AU 7 38606961 38606961 single base substitution G A intron_variant PACA-AU 7 38607779 38607779 single base substitution C A intron_variant PACA-AU 7 38607841 38607841 single base substitution G A intron_variant PACA-AU 7 38607861 38607861 single base substitution C T intron_variant PACA-AU 7 38611415 38611415 single base substitution C T intron_variant PACA-AU 7 38611543 38611543 single base substitution T A intron_variant PACA-AU 7 38613830 38613830 single base substitution C T intron_variant PACA-AU 7 38614899 38614899 single base substitution A C intron_variant PACA-AU 7 38617618 38617618 single base substitution C T intron_variant PACA-AU 7 38618315 38618315 single base substitution T A intron_variant PACA-AU 7 38621243 38621243 single base substitution T C intron_variant PACA-AU 7 38627291 38627291 single base substitution A G intron_variant PACA-AU 7 38628562 38628562 single base substitution T C intron_variant PACA-AU 7 38629824 38629824 single base substitution G T intron_variant PACA-AU 7 38632598 38632598 single base substitution T A intron_variant PACA-AU 7 38638012 38638012 single base substitution C T intron_variant PACA-AU 7 38638343 38638343 single base substitution G T intron_variant PACA-AU 7 38638781 38638781 single base substitution C G intron_variant PACA-AU 7 38639132 38639132 single base substitution G A intron_variant PACA-AU 7 38639390 38639390 single base substitution G T intron_variant PACA-AU 7 38639842 38639842 single base substitution A G intron_variant PACA-AU 7 38640672 38640672 single base substitution C A intron_variant PACA-AU 7 38640762 38640762 single base substitution A G intron_variant PACA-AU 7 38641568 38641568 single base substitution T A intron_variant PACA-AU 7 38641711 38641711 single base substitution C G intron_variant PACA-AU 7 38645904 38645904 single base substitution G A intron_variant PACA-AU 7 38647819 38647819 single base substitution T C intron_variant PACA-AU 7 38649798 38649798 single base substitution T A intron_variant PACA-AU 7 38650322 38650322 single base substitution A C intron_variant PACA-AU 7 38650688 38650688 single base substitution T C intron_variant PACA-AU 7 38653162 38653162 single base substitution G A intron_variant PACA-AU 7 38656294 38656294 single base substitution G A intron_variant PACA-AU 7 38657635 38657635 single base substitution A T intron_variant PACA-AU 7 38659321 38659321 single base substitution C T intron_variant PACA-AU 7 38659968 38659968 single base substitution G C intron_variant PACA-AU 7 38662534 38662534 single base substitution G A intron_variant PACA-AU 7 38662585 38662585 single base substitution C T intron_variant PACA-AU 7 38663763 38663763 single base substitution G A intron_variant PACA-AU 7 38664775 38664775 single base substitution A G intron_variant PACA-AU 7 38668133 38668133 single base substitution A C intron_variant PACA-AU 7 38669774 38669774 single base substitution C T intron_variant PACA-AU 7 38670699 38670699 single base substitution G A intron_variant PACA-AU 7 38672944 38672944 single base substitution A T upstream_gene_variant PACA-AU 7 38673071 38673071 single base substitution G A upstream_gene_variant PACA-AU 7 38673269 38673269 deletion of <=200bp T - upstream_gene_variant PACA-AU 7 38673505 38673505 single base substitution G T upstream_gene_variant PACA-AU 7 38675889 38675889 single base substitution T C upstream_gene_variant PACA-AU 7 38676154 38676154 single base substitution A T upstream_gene_variant PACA-CA 7 38419331 38419331 single base substitution G A downstream_gene_variant PACA-CA 7 38420445 38420445 single base substitution C T downstream_gene_variant PACA-CA 7 38421609 38421609 single base substitution C T downstream_gene_variant PACA-CA 7 38421658 38421658 deletion of <=200bp A - downstream_gene_variant PACA-CA 7 38423049 38423049 single base substitution C T downstream_gene_variant PACA-CA 7 38424048 38424048 single base substitution T C 3_prime_UTR_variant PACA-CA 7 38424048 38424048 single base substitution T C downstream_gene_variant PACA-CA 7 38424528 38424528 single base substitution T G downstream_gene_variant PACA-CA 7 38424528 38424528 single base substitution T G splice_acceptor_variant PACA-CA 7 38425069 38425069 deletion of <=200bp C - downstream_gene_variant PACA-CA 7 38425069 38425069 deletion of <=200bp C - intron_variant PACA-CA 7 38426518 38426518 single base substitution C G downstream_gene_variant PACA-CA 7 38426518 38426518 single base substitution C G intron_variant PACA-CA 7 38426660 38426660 single base substitution C T downstream_gene_variant PACA-CA 7 38426660 38426660 single base substitution C T intron_variant PACA-CA 7 38426826 38426826 single base substitution A G downstream_gene_variant PACA-CA 7 38426826 38426826 single base substitution A G intron_variant PACA-CA 7 38428419 38428419 single base substitution A T downstream_gene_variant PACA-CA 7 38428419 38428419 single base substitution A T intron_variant PACA-CA 7 38428697 38428697 insertion of <=200bp - T downstream_gene_variant PACA-CA 7 38428697 38428697 insertion of <=200bp - T intron_variant PACA-CA 7 38428894 38428894 single base substitution T A downstream_gene_variant PACA-CA 7 38428894 38428894 single base substitution T A intron_variant PACA-CA 7 38431095 38431095 single base substitution A C downstream_gene_variant PACA-CA 7 38431095 38431095 single base substitution A C intron_variant PACA-CA 7 38433356 38433356 single base substitution A T downstream_gene_variant PACA-CA 7 38433356 38433356 single base substitution A T intron_variant PACA-CA 7 38433356 38433356 single base substitution A T upstream_gene_variant PACA-CA 7 38433842 38433847 deletion of <=200bp TCTGCA - intron_variant PACA-CA 7 38433842 38433847 deletion of <=200bp TCTGCA - upstream_gene_variant PACA-CA 7 38439605 38439605 single base substitution C G intron_variant PACA-CA 7 38442317 38442317 single base substitution G A intron_variant PACA-CA 7 38446383 38446383 single base substitution G A intron_variant PACA-CA 7 38447376 38447376 single base substitution C T intron_variant PACA-CA 7 38447659 38447659 single base substitution A T intron_variant PACA-CA 7 38449156 38449156 single base substitution C T intron_variant PACA-CA 7 38449252 38449252 single base substitution C T intron_variant PACA-CA 7 38449839 38449839 single base substitution C T intron_variant PACA-CA 7 38450123 38450123 single base substitution C T intron_variant PACA-CA 7 38450126 38450126 single base substitution A G intron_variant PACA-CA 7 38453739 38453739 single base substitution A G intron_variant PACA-CA 7 38454248 38454248 single base substitution C T intron_variant PACA-CA 7 38454283 38454283 single base substitution G T intron_variant PACA-CA 7 38458327 38458327 single base substitution G A intron_variant PACA-CA 7 38458327 38458327 single base substitution G A upstream_gene_variant PACA-CA 7 38459131 38459131 single base substitution G T intron_variant PACA-CA 7 38459131 38459131 single base substitution G T upstream_gene_variant PACA-CA 7 38459292 38459292 single base substitution G T intron_variant PACA-CA 7 38459292 38459292 single base substitution G T upstream_gene_variant PACA-CA 7 38460026 38460026 single base substitution C A intron_variant PACA-CA 7 38460026 38460026 single base substitution C A upstream_gene_variant PACA-CA 7 38460077 38460077 single base substitution A T intron_variant PACA-CA 7 38460077 38460077 single base substitution A T upstream_gene_variant PACA-CA 7 38460445 38460445 single base substitution G T intron_variant PACA-CA 7 38460445 38460445 single base substitution G T upstream_gene_variant PACA-CA 7 38461473 38461473 single base substitution T A intron_variant PACA-CA 7 38461473 38461473 single base substitution T A upstream_gene_variant PACA-CA 7 38461899 38461899 single base substitution A T intron_variant PACA-CA 7 38461899 38461899 single base substitution A T upstream_gene_variant PACA-CA 7 38462375 38462375 single base substitution C T intron_variant PACA-CA 7 38462375 38462375 single base substitution C T upstream_gene_variant PACA-CA 7 38463639 38463639 single base substitution C A intron_variant PACA-CA 7 38463895 38463895 single base substitution G T intron_variant PACA-CA 7 38466351 38466351 single base substitution C T intron_variant PACA-CA 7 38468803 38468803 single base substitution C G exon_variant PACA-CA 7 38468803 38468803 single base substitution C G intron_variant PACA-CA 7 38468803 38468803 single base substitution C G synonymous_variant L269L 807G>C PACA-CA 7 38468848 38468848 single base substitution C T exon_variant PACA-CA 7 38468848 38468848 single base substitution C T intron_variant PACA-CA 7 38468848 38468848 single base substitution C T synonymous_variant P254P 762G>A PACA-CA 7 38468986 38468986 single base substitution G A intron_variant PACA-CA 7 38468986 38468986 single base substitution G A synonymous_variant S208S 624C>T PACA-CA 7 38468986 38468986 single base substitution G A upstream_gene_variant PACA-CA 7 38469035 38469035 single base substitution C A intron_variant PACA-CA 7 38469035 38469035 single base substitution C A missense_variant S192I 575G>T PACA-CA 7 38469035 38469035 single base substitution C A upstream_gene_variant PACA-CA 7 38469784 38469784 single base substitution G C intron_variant PACA-CA 7 38469784 38469784 single base substitution G C upstream_gene_variant PACA-CA 7 38472781 38472781 single base substitution G A intron_variant PACA-CA 7 38472781 38472781 single base substitution G A upstream_gene_variant PACA-CA 7 38473793 38473793 single base substitution C T intron_variant PACA-CA 7 38473793 38473793 single base substitution C T upstream_gene_variant PACA-CA 7 38474280 38474280 single base substitution A C intron_variant PACA-CA 7 38474280 38474280 single base substitution A C upstream_gene_variant PACA-CA 7 38475929 38475929 single base substitution G C missense_variant F109L 327C>G PACA-CA 7 38475929 38475929 single base substitution G C missense_variant F359L 1077C>G PACA-CA 7 38478416 38478416 single base substitution G T intron_variant PACA-CA 7 38480450 38480450 single base substitution G T intron_variant PACA-CA 7 38481197 38481197 single base substitution C A intron_variant PACA-CA 7 38482488 38482488 single base substitution G T intron_variant PACA-CA 7 38485842 38485842 single base substitution G A intron_variant PACA-CA 7 38486625 38486625 single base substitution T G intron_variant PACA-CA 7 38488937 38488937 single base substitution C T intron_variant PACA-CA 7 38489746 38489746 single base substitution G A intron_variant PACA-CA 7 38492749 38492749 single base substitution T G intron_variant PACA-CA 7 38494112 38494112 single base substitution C A intron_variant PACA-CA 7 38494505 38494505 single base substitution A T intron_variant PACA-CA 7 38495561 38495561 single base substitution A C intron_variant PACA-CA 7 38497283 38497283 single base substitution C A intron_variant PACA-CA 7 38497532 38497533 deletion of <=200bp TG - intron_variant PACA-CA 7 38498518 38498518 single base substitution A C intron_variant PACA-CA 7 38499153 38499153 single base substitution G T intron_variant PACA-CA 7 38500141 38500141 single base substitution T C intron_variant PACA-CA 7 38502156 38502156 single base substitution G C intron_variant PACA-CA 7 38502595 38502595 single base substitution G A missense_variant R290W 868C>T PACA-CA 7 38502595 38502595 single base substitution G A missense_variant R40W 118C>T PACA-CA 7 38503016 38503016 single base substitution A T intron_variant PACA-CA 7 38503016 38503016 single base substitution A T upstream_gene_variant PACA-CA 7 38504744 38504744 single base substitution G C intron_variant PACA-CA 7 38504744 38504744 single base substitution G C upstream_gene_variant PACA-CA 7 38505335 38505335 single base substitution C T intron_variant PACA-CA 7 38505335 38505335 single base substitution C T upstream_gene_variant PACA-CA 7 38505622 38505622 single base substitution G A intron_variant PACA-CA 7 38505622 38505622 single base substitution G A upstream_gene_variant PACA-CA 7 38506704 38506704 single base substitution C T intron_variant PACA-CA 7 38506704 38506704 single base substitution C T upstream_gene_variant PACA-CA 7 38507367 38507367 single base substitution A G intron_variant PACA-CA 7 38507367 38507367 single base substitution A G upstream_gene_variant PACA-CA 7 38508393 38508393 single base substitution C T intron_variant PACA-CA 7 38510490 38510490 single base substitution C T intron_variant PACA-CA 7 38511063 38511063 single base substitution G C intron_variant PACA-CA 7 38511202 38511202 single base substitution A G intron_variant PACA-CA 7 38515208 38515208 single base substitution G A intron_variant PACA-CA 7 38515503 38515503 single base substitution G A intron_variant PACA-CA 7 38515653 38515653 single base substitution C T intron_variant PACA-CA 7 38518978 38518978 single base substitution T C intron_variant PACA-CA 7 38519144 38519144 insertion of <=200bp - A intron_variant PACA-CA 7 38519222 38519222 single base substitution G T intron_variant PACA-CA 7 38519369 38519369 single base substitution A G intron_variant PACA-CA 7 38525960 38525960 single base substitution C T intron_variant PACA-CA 7 38526249 38526249 single base substitution C T intron_variant PACA-CA 7 38528178 38528178 single base substitution G A intron_variant PACA-CA 7 38528326 38528326 single base substitution G A intron_variant PACA-CA 7 38529670 38529670 single base substitution C A intron_variant PACA-CA 7 38530661 38530661 single base substitution G A missense_variant P129S 385C>T PACA-CA 7 38532311 38532311 single base substitution G A intron_variant PACA-CA 7 38532768 38532768 single base substitution C T intron_variant PACA-CA 7 38533118 38533118 single base substitution G A intron_variant PACA-CA 7 38534124 38534124 single base substitution A G missense_variant M70T 209T>C PACA-CA 7 38534210 38534210 single base substitution G T intron_variant PACA-CA 7 38534756 38534756 single base substitution T C intron_variant PACA-CA 7 38535592 38535592 single base substitution C T intron_variant PACA-CA 7 38536192 38536192 single base substitution G A intron_variant PACA-CA 7 38539725 38539725 single base substitution C T intron_variant PACA-CA 7 38540000 38540000 single base substitution G A intron_variant PACA-CA 7 38540939 38540939 single base substitution C T intron_variant PACA-CA 7 38543304 38543304 single base substitution C T missense_variant A51T 151G>A PACA-CA 7 38544804 38544804 single base substitution A T intron_variant PACA-CA 7 38550041 38550041 single base substitution A G intron_variant PACA-CA 7 38550294 38550294 single base substitution C T intron_variant PACA-CA 7 38550577 38550577 single base substitution C A intron_variant PACA-CA 7 38551656 38551656 single base substitution A T intron_variant PACA-CA 7 38553540 38553540 single base substitution C T intron_variant PACA-CA 7 38553643 38553643 single base substitution T G intron_variant PACA-CA 7 38554889 38554889 single base substitution C T intron_variant PACA-CA 7 38554905 38554905 deletion of <=200bp G - intron_variant PACA-CA 7 38555331 38555331 single base substitution G T intron_variant PACA-CA 7 38556546 38556546 deletion of <=200bp T - intron_variant PACA-CA 7 38558023 38558023 single base substitution C T intron_variant PACA-CA 7 38558077 38558077 single base substitution G A intron_variant PACA-CA 7 38558615 38558615 single base substitution C A intron_variant PACA-CA 7 38558997 38558997 single base substitution A C intron_variant PACA-CA 7 38560007 38560007 single base substitution C T intron_variant PACA-CA 7 38560708 38560708 single base substitution T G intron_variant PACA-CA 7 38563953 38563953 single base substitution T C intron_variant PACA-CA 7 38564881 38564881 single base substitution G T intron_variant PACA-CA 7 38566155 38566155 single base substitution C T intron_variant PACA-CA 7 38566711 38566711 single base substitution A G intron_variant PACA-CA 7 38566979 38566979 single base substitution C A intron_variant PACA-CA 7 38567773 38567773 single base substitution A G intron_variant PACA-CA 7 38568963 38568963 single base substitution C A intron_variant PACA-CA 7 38570051 38570051 single base substitution C A intron_variant PACA-CA 7 38570145 38570145 single base substitution A C intron_variant PACA-CA 7 38570496 38570496 single base substitution C T intron_variant PACA-CA 7 38573967 38573967 single base substitution G A intron_variant PACA-CA 7 38574222 38574222 single base substitution G T intron_variant PACA-CA 7 38574416 38574416 single base substitution A T intron_variant PACA-CA 7 38578278 38578278 single base substitution C T intron_variant PACA-CA 7 38579609 38579609 deletion of <=200bp A - intron_variant PACA-CA 7 38581385 38581385 single base substitution G A intron_variant PACA-CA 7 38582393 38582393 deletion of <=200bp A - intron_variant PACA-CA 7 38584887 38584887 single base substitution A T intron_variant PACA-CA 7 38584944 38584944 single base substitution A G intron_variant PACA-CA 7 38585302 38585302 single base substitution G T intron_variant PACA-CA 7 38585554 38585554 insertion of <=200bp - A intron_variant PACA-CA 7 38585673 38585673 single base substitution C T intron_variant PACA-CA 7 38587789 38587789 single base substitution C T intron_variant PACA-CA 7 38587953 38587953 single base substitution G A intron_variant PACA-CA 7 38590479 38590479 single base substitution G A intron_variant PACA-CA 7 38590542 38590542 single base substitution A G intron_variant PACA-CA 7 38591862 38591862 single base substitution C G intron_variant PACA-CA 7 38591900 38591900 single base substitution G A intron_variant PACA-CA 7 38592567 38592567 single base substitution C T intron_variant PACA-CA 7 38593236 38593236 single base substitution A C intron_variant PACA-CA 7 38595988 38595988 single base substitution C T intron_variant PACA-CA 7 38596902 38596902 single base substitution G C intron_variant PACA-CA 7 38596922 38596922 single base substitution T C intron_variant PACA-CA 7 38596997 38596997 single base substitution C T intron_variant PACA-CA 7 38601240 38601240 single base substitution A G intron_variant PACA-CA 7 38606126 38606126 single base substitution C T intron_variant PACA-CA 7 38608151 38608151 single base substitution G T intron_variant PACA-CA 7 38608977 38608978 deletion of <=200bp AT - intron_variant PACA-CA 7 38609336 38609336 single base substitution C T intron_variant PACA-CA 7 38610876 38610882 deletion of <=200bp TATTTTT - intron_variant PACA-CA 7 38610966 38610966 single base substitution A G intron_variant PACA-CA 7 38612193 38612193 single base substitution G A intron_variant PACA-CA 7 38614281 38614281 single base substitution G A intron_variant PACA-CA 7 38617875 38617875 single base substitution G T intron_variant PACA-CA 7 38618676 38618676 single base substitution G A intron_variant PACA-CA 7 38619627 38619627 single base substitution C A intron_variant PACA-CA 7 38620438 38620438 single base substitution A T intron_variant PACA-CA 7 38620545 38620545 single base substitution T C intron_variant PACA-CA 7 38620810 38620810 deletion of <=200bp A - intron_variant PACA-CA 7 38620974 38620974 single base substitution C T intron_variant PACA-CA 7 38621266 38621266 single base substitution C T intron_variant PACA-CA 7 38623377 38623377 single base substitution G C intron_variant PACA-CA 7 38623529 38623529 single base substitution T G intron_variant PACA-CA 7 38624097 38624097 single base substitution G A intron_variant PACA-CA 7 38625512 38625512 single base substitution G T intron_variant PACA-CA 7 38625716 38625716 single base substitution C A intron_variant PACA-CA 7 38626633 38626633 single base substitution A T intron_variant PACA-CA 7 38627563 38627563 single base substitution T A intron_variant PACA-CA 7 38627943 38627943 single base substitution C A intron_variant PACA-CA 7 38628229 38628229 single base substitution C T intron_variant PACA-CA 7 38628551 38628551 single base substitution C T intron_variant PACA-CA 7 38629756 38629756 single base substitution C T intron_variant PACA-CA 7 38630601 38630601 single base substitution C T intron_variant PACA-CA 7 38631212 38631212 single base substitution G A intron_variant PACA-CA 7 38631504 38631504 single base substitution C A intron_variant PACA-CA 7 38631967 38631967 single base substitution T C intron_variant PACA-CA 7 38632969 38632969 single base substitution C G intron_variant PACA-CA 7 38633582 38633582 single base substitution G A intron_variant PACA-CA 7 38633676 38633676 single base substitution G C intron_variant PACA-CA 7 38636754 38636754 deletion of <=200bp A - intron_variant PACA-CA 7 38636904 38636904 single base substitution A C intron_variant PACA-CA 7 38637134 38637134 single base substitution A C intron_variant PACA-CA 7 38638139 38638139 single base substitution T A intron_variant PACA-CA 7 38640086 38640086 single base substitution G T intron_variant PACA-CA 7 38640844 38640844 single base substitution G A intron_variant PACA-CA 7 38642099 38642099 single base substitution G A intron_variant PACA-CA 7 38645513 38645513 single base substitution G A intron_variant PACA-CA 7 38646686 38646686 single base substitution C A intron_variant PACA-CA 7 38647205 38647205 single base substitution A G intron_variant PACA-CA 7 38648692 38648692 single base substitution G C intron_variant PACA-CA 7 38650398 38650398 deletion of <=200bp A - intron_variant PACA-CA 7 38651513 38651513 single base substitution A G intron_variant PACA-CA 7 38651899 38651899 single base substitution C T intron_variant PACA-CA 7 38652173 38652173 single base substitution C T intron_variant PACA-CA 7 38652665 38652665 single base substitution T A intron_variant PACA-CA 7 38653334 38653334 insertion of <=200bp - A intron_variant PACA-CA 7 38654099 38654099 single base substitution G T intron_variant PACA-CA 7 38656032 38656032 single base substitution C G intron_variant PACA-CA 7 38656178 38656178 single base substitution G A intron_variant PACA-CA 7 38657173 38657173 single base substitution C T intron_variant PACA-CA 7 38659176 38659176 single base substitution G T intron_variant PACA-CA 7 38659900 38659900 single base substitution G A intron_variant PACA-CA 7 38660842 38660842 single base substitution C A intron_variant PACA-CA 7 38663245 38663245 single base substitution A T intron_variant PACA-CA 7 38663403 38663403 single base substitution G A intron_variant PACA-CA 7 38665042 38665042 single base substitution A G intron_variant PACA-CA 7 38665609 38665609 single base substitution T G intron_variant PACA-CA 7 38668299 38668299 single base substitution A G intron_variant PACA-CA 7 38668584 38668584 single base substitution T C intron_variant PACA-CA 7 38668994 38668994 single base substitution C T intron_variant PACA-CA 7 38670062 38670062 single base substitution C T intron_variant PACA-CA 7 38670186 38670186 single base substitution T A intron_variant PACA-CA 7 38670434 38670434 single base substitution A G intron_variant PACA-CA 7 38670468 38670468 single base substitution G A intron_variant PACA-CA 7 38670893 38670893 single base substitution G A missense_variant A20V 59C>T PACA-CA 7 38672433 38672433 single base substitution A G upstream_gene_variant PACA-CA 7 38672514 38672514 single base substitution G A upstream_gene_variant PACA-CA 7 38676025 38676025 single base substitution A C upstream_gene_variant PAEN-AU 7 38510893 38510893 single base substitution G T intron_variant PAEN-AU 7 38517793 38517793 single base substitution C A intron_variant PAEN-AU 7 38519837 38519837 single base substitution G A intron_variant PAEN-AU 7 38542546 38542546 single base substitution A G intron_variant PAEN-AU 7 38551331 38551331 single base substitution G T intron_variant PAEN-AU 7 38604462 38604462 single base substitution C T intron_variant PAEN-AU 7 38616179 38616179 single base substitution G T intron_variant PAEN-AU 7 38653422 38653422 single base substitution C A intron_variant PAEN-IT 7 38431940 38431940 single base substitution G C downstream_gene_variant PAEN-IT 7 38431940 38431940 single base substitution G C intron_variant PAEN-IT 7 38470730 38470730 single base substitution C G intron_variant PAEN-IT 7 38470730 38470730 single base substitution C G upstream_gene_variant PAEN-IT 7 38489160 38489160 single base substitution G A intron_variant PAEN-IT 7 38516571 38516571 single base substitution T C splice_acceptor_variant PAEN-IT 7 38555342 38555342 single base substitution G A intron_variant PAEN-IT 7 38592984 38592984 single base substitution G A intron_variant PAEN-IT 7 38673432 38673432 single base substitution G A upstream_gene_variant PBCA-DE 7 38420119 38420119 single base substitution T C downstream_gene_variant PBCA-DE 7 38422586 38422586 single base substitution G T downstream_gene_variant PBCA-DE 7 38424169 38424169 single base substitution T A 3_prime_UTR_variant PBCA-DE 7 38424169 38424169 single base substitution T A downstream_gene_variant PBCA-DE 7 38427103 38427103 single base substitution A C downstream_gene_variant PBCA-DE 7 38427103 38427103 single base substitution A C intron_variant PBCA-DE 7 38433220 38433220 single base substitution G T downstream_gene_variant PBCA-DE 7 38433220 38433220 single base substitution G T intron_variant PBCA-DE 7 38433220 38433220 single base substitution G T upstream_gene_variant PBCA-DE 7 38434299 38434299 single base substitution T C intron_variant PBCA-DE 7 38434299 38434299 single base substitution T C upstream_gene_variant PBCA-DE 7 38434300 38434300 single base substitution C A intron_variant PBCA-DE 7 38434300 38434300 single base substitution C A upstream_gene_variant PBCA-DE 7 38462187 38462187 single base substitution T C intron_variant PBCA-DE 7 38462187 38462187 single base substitution T C upstream_gene_variant PBCA-DE 7 38462551 38462551 single base substitution C T intron_variant PBCA-DE 7 38462551 38462551 single base substitution C T upstream_gene_variant PBCA-DE 7 38484303 38484303 deletion of <=200bp T - intron_variant PBCA-DE 7 38502675 38502675 single base substitution G A missense_variant P13L 38C>T PBCA-DE 7 38502675 38502675 single base substitution G A missense_variant P263L 788C>T PBCA-DE 7 38503125 38503125 single base substitution G A intron_variant PBCA-DE 7 38503125 38503125 single base substitution G A upstream_gene_variant PBCA-DE 7 38513401 38513401 single base substitution A T intron_variant PBCA-DE 7 38517290 38517292 deletion of <=200bp AAC - intron_variant PBCA-DE 7 38521832 38521833 deletion of <=200bp AG - intron_variant PBCA-DE 7 38523075 38523075 single base substitution C A intron_variant PBCA-DE 7 38531451 38531451 single base substitution C A intron_variant PBCA-DE 7 38539566 38539566 single base substitution G A intron_variant PBCA-DE 7 38544116 38544116 single base substitution C T intron_variant PBCA-DE 7 38548401 38548401 single base substitution T A intron_variant PBCA-DE 7 38559072 38559072 single base substitution A T intron_variant PBCA-DE 7 38570437 38570437 single base substitution A G intron_variant PBCA-DE 7 38581209 38581209 single base substitution G A intron_variant PBCA-DE 7 38584867 38584867 single base substitution C T intron_variant PBCA-DE 7 38602767 38602767 single base substitution G A intron_variant PBCA-DE 7 38610199 38610199 single base substitution C G intron_variant PBCA-DE 7 38610914 38610914 single base substitution T C intron_variant PBCA-DE 7 38618894 38618894 single base substitution T A intron_variant PBCA-DE 7 38620259 38620261 deletion of <=200bp GAT - intron_variant PBCA-DE 7 38625592 38625592 single base substitution T C intron_variant PBCA-DE 7 38627621 38627621 single base substitution G A intron_variant PBCA-DE 7 38648514 38648514 single base substitution G T intron_variant PBCA-DE 7 38649320 38649320 single base substitution T A intron_variant PBCA-DE 7 38649972 38649972 single base substitution A G intron_variant PBCA-DE 7 38659937 38659938 deletion of <=200bp TG - intron_variant PBCA-DE 7 38662055 38662056 deletion of <=200bp AC - intron_variant PRAD-CA 7 38437796 38437796 single base substitution C A intron_variant PRAD-CA 7 38438384 38438384 single base substitution C T intron_variant PRAD-CA 7 38439266 38439266 single base substitution C A intron_variant PRAD-CA 7 38451205 38451205 single base substitution G A intron_variant PRAD-CA 7 38451354 38451354 single base substitution G A intron_variant PRAD-CA 7 38456978 38456978 single base substitution G C intron_variant PRAD-CA 7 38461494 38461494 single base substitution C T intron_variant PRAD-CA 7 38461494 38461494 single base substitution C T upstream_gene_variant PRAD-CA 7 38470379 38470379 single base substitution T A intron_variant PRAD-CA 7 38470379 38470379 single base substitution T A upstream_gene_variant PRAD-CA 7 38476459 38476459 single base substitution C T intron_variant PRAD-CA 7 38477239 38477239 single base substitution A G intron_variant PRAD-CA 7 38483203 38483203 single base substitution A C intron_variant PRAD-CA 7 38486216 38486216 single base substitution G A intron_variant PRAD-CA 7 38512613 38512613 single base substitution C A intron_variant PRAD-CA 7 38514225 38514225 single base substitution G A intron_variant PRAD-CA 7 38517392 38517392 single base substitution T G intron_variant PRAD-CA 7 38518459 38518459 single base substitution G A intron_variant PRAD-CA 7 38520366 38520366 single base substitution C A intron_variant PRAD-CA 7 38535586 38535586 single base substitution C T intron_variant PRAD-CA 7 38536657 38536657 single base substitution G T intron_variant PRAD-CA 7 38554432 38554432 single base substitution C T intron_variant PRAD-CA 7 38560013 38560013 single base substitution A C intron_variant PRAD-CA 7 38564877 38564877 single base substitution T G intron_variant PRAD-CA 7 38564881 38564881 single base substitution G T intron_variant PRAD-CA 7 38564883 38564883 single base substitution G T intron_variant PRAD-CA 7 38564889 38564889 single base substitution G T intron_variant PRAD-CA 7 38569416 38569416 single base substitution G A intron_variant PRAD-CA 7 38585673 38585673 single base substitution C T intron_variant PRAD-CA 7 38645178 38645178 single base substitution T G intron_variant PRAD-CA 7 38649972 38649972 single base substitution A G intron_variant PRAD-CA 7 38657173 38657173 single base substitution C A intron_variant PRAD-CA 7 38659510 38659510 single base substitution G T intron_variant PRAD-CA 7 38659964 38659964 single base substitution C G intron_variant PRAD-UK 7 38420413 38420413 single base substitution T C downstream_gene_variant PRAD-UK 7 38431062 38431062 single base substitution G T downstream_gene_variant PRAD-UK 7 38431062 38431062 single base substitution G T intron_variant PRAD-UK 7 38437474 38437474 single base substitution A G intron_variant PRAD-UK 7 38445419 38445419 single base substitution C T intron_variant PRAD-UK 7 38446622 38446622 insertion of <=200bp - CTCTCTCTCT intron_variant PRAD-UK 7 38450572 38450572 single base substitution C T intron_variant PRAD-UK 7 38459272 38459272 single base substitution A G intron_variant PRAD-UK 7 38459272 38459272 single base substitution A G upstream_gene_variant PRAD-UK 7 38460424 38460424 single base substitution G T intron_variant PRAD-UK 7 38460424 38460424 single base substitution G T upstream_gene_variant PRAD-UK 7 38473048 38473048 single base substitution G C intron_variant PRAD-UK 7 38473048 38473048 single base substitution G C upstream_gene_variant PRAD-UK 7 38474593 38474593 single base substitution G T intron_variant PRAD-UK 7 38474593 38474593 single base substitution G T upstream_gene_variant PRAD-UK 7 38489998 38489998 single base substitution G A intron_variant PRAD-UK 7 38494132 38494132 single base substitution T C intron_variant PRAD-UK 7 38499205 38499205 single base substitution C T intron_variant PRAD-UK 7 38512104 38512104 single base substitution T C intron_variant PRAD-UK 7 38529292 38529292 single base substitution T A intron_variant PRAD-UK 7 38531825 38531825 single base substitution C G intron_variant PRAD-UK 7 38543102 38543102 deletion of <=200bp G - intron_variant PRAD-UK 7 38543402 38543402 single base substitution C T intron_variant PRAD-UK 7 38544323 38544323 single base substitution G C intron_variant PRAD-UK 7 38546266 38546266 single base substitution G T intron_variant PRAD-UK 7 38551951 38551951 single base substitution G A intron_variant PRAD-UK 7 38554432 38554432 single base substitution C T intron_variant PRAD-UK 7 38555028 38555028 single base substitution C T intron_variant PRAD-UK 7 38556179 38556179 single base substitution C T intron_variant PRAD-UK 7 38559917 38559917 single base substitution G A intron_variant PRAD-UK 7 38566217 38566217 single base substitution A C intron_variant PRAD-UK 7 38570889 38570889 single base substitution C T intron_variant PRAD-UK 7 38576698 38576698 single base substitution G T intron_variant PRAD-UK 7 38594459 38594459 single base substitution G A intron_variant PRAD-UK 7 38595456 38595456 single base substitution T A intron_variant PRAD-UK 7 38596119 38596119 single base substitution C T intron_variant PRAD-UK 7 38601749 38601749 single base substitution A C intron_variant PRAD-UK 7 38615976 38615976 single base substitution C T intron_variant PRAD-UK 7 38618699 38618699 single base substitution C A intron_variant PRAD-UK 7 38619734 38619734 single base substitution A T intron_variant PRAD-UK 7 38625113 38625113 single base substitution C A intron_variant PRAD-UK 7 38626066 38626066 single base substitution A C intron_variant PRAD-UK 7 38634800 38634800 single base substitution C T intron_variant PRAD-UK 7 38638549 38638549 single base substitution A T intron_variant PRAD-UK 7 38642099 38642099 single base substitution G A intron_variant PRAD-UK 7 38643867 38643867 single base substitution C T intron_variant PRAD-UK 7 38647163 38647163 single base substitution G T intron_variant PRAD-UK 7 38647595 38647595 single base substitution A T intron_variant PRAD-UK 7 38651095 38651095 single base substitution C A intron_variant PRAD-UK 7 38663860 38663860 insertion of <=200bp - A intron_variant PRAD-UK 7 38665765 38665765 single base substitution T A intron_variant READ-US 7 38433622 38433622 single base substitution C T 3_prime_UTR_variant READ-US 7 38433622 38433622 single base substitution C T downstream_gene_variant READ-US 7 38433622 38433622 single base substitution C T exon_variant READ-US 7 38433622 38433622 single base substitution C T missense_variant E413K 1237G>A READ-US 7 38433622 38433622 single base substitution C T missense_variant E489K 1465G>A READ-US 7 38433622 38433622 single base substitution C T missense_variant E531K 1591G>A READ-US 7 38433622 38433622 single base substitution C T upstream_gene_variant READ-US 7 38516554 38516554 single base substitution G A missense_variant R138C 412C>T READ-US 7 38534123 38534123 single base substitution C A missense_variant M70I 210G>T READ-US 7 38574564 38574564 single base substitution G A synonymous_variant F39F 117C>T RECA-EU 7 38420002 38420002 single base substitution C T downstream_gene_variant RECA-EU 7 38420169 38420169 single base substitution G A downstream_gene_variant RECA-EU 7 38435253 38435253 single base substitution G C intron_variant RECA-EU 7 38435253 38435253 single base substitution G C upstream_gene_variant RECA-EU 7 38438105 38438105 single base substitution C G intron_variant RECA-EU 7 38444192 38444192 single base substitution A T intron_variant RECA-EU 7 38444380 38444380 single base substitution A T intron_variant RECA-EU 7 38450821 38450821 single base substitution A T intron_variant RECA-EU 7 38455328 38455328 single base substitution C G intron_variant RECA-EU 7 38462199 38462199 single base substitution T C intron_variant RECA-EU 7 38462199 38462199 single base substitution T C upstream_gene_variant RECA-EU 7 38465485 38465485 single base substitution T C intron_variant RECA-EU 7 38469655 38469655 single base substitution A C exon_variant RECA-EU 7 38469655 38469655 single base substitution A C intron_variant RECA-EU 7 38469655 38469655 single base substitution A C upstream_gene_variant RECA-EU 7 38477234 38477234 single base substitution A G intron_variant RECA-EU 7 38482578 38482578 single base substitution G C intron_variant RECA-EU 7 38483054 38483054 single base substitution G A intron_variant RECA-EU 7 38483055 38483055 single base substitution C T intron_variant RECA-EU 7 38483258 38483258 single base substitution T C intron_variant RECA-EU 7 38491855 38491855 single base substitution G A intron_variant RECA-EU 7 38499903 38499903 single base substitution T C intron_variant RECA-EU 7 38511206 38511206 single base substitution T A intron_variant RECA-EU 7 38518812 38518812 single base substitution A T intron_variant RECA-EU 7 38520336 38520336 single base substitution C A intron_variant RECA-EU 7 38539722 38539722 single base substitution G T intron_variant RECA-EU 7 38540973 38540973 single base substitution T A intron_variant RECA-EU 7 38544545 38544545 single base substitution A G intron_variant RECA-EU 7 38558694 38558694 single base substitution A G intron_variant RECA-EU 7 38560542 38560542 single base substitution G C intron_variant RECA-EU 7 38560603 38560603 single base substitution T A intron_variant RECA-EU 7 38563094 38563094 single base substitution A G intron_variant RECA-EU 7 38571388 38571388 single base substitution A C intron_variant RECA-EU 7 38580283 38580283 single base substitution G A intron_variant RECA-EU 7 38585430 38585430 single base substitution A C intron_variant RECA-EU 7 38588920 38588920 single base substitution T A intron_variant RECA-EU 7 38591579 38591579 single base substitution A T intron_variant RECA-EU 7 38601146 38601146 single base substitution A G intron_variant RECA-EU 7 38601894 38601894 single base substitution T C intron_variant RECA-EU 7 38602767 38602767 single base substitution G A intron_variant RECA-EU 7 38606773 38606773 single base substitution A T intron_variant RECA-EU 7 38619245 38619245 single base substitution T A intron_variant RECA-EU 7 38619517 38619517 single base substitution T C intron_variant RECA-EU 7 38623903 38623903 single base substitution C T intron_variant RECA-EU 7 38635477 38635477 single base substitution T G intron_variant RECA-EU 7 38639796 38639796 single base substitution C A intron_variant RECA-EU 7 38645461 38645461 single base substitution C G intron_variant RECA-EU 7 38645462 38645462 single base substitution C A intron_variant RECA-EU 7 38651801 38651801 single base substitution C G intron_variant RECA-EU 7 38658620 38658620 single base substitution T A intron_variant RECA-EU 7 38661716 38661716 single base substitution T A intron_variant RECA-EU 7 38663812 38663812 single base substitution T A intron_variant RECA-EU 7 38663813 38663813 single base substitution C A intron_variant RECA-EU 7 38673639 38673639 single base substitution G A upstream_gene_variant SKCA-BR 7 38418670 38418670 single base substitution G A downstream_gene_variant SKCA-BR 7 38419028 38419028 single base substitution C T downstream_gene_variant SKCA-BR 7 38419230 38419230 single base substitution G A downstream_gene_variant SKCA-BR 7 38419657 38419657 single base substitution G A downstream_gene_variant SKCA-BR 7 38420332 38420332 single base substitution G A downstream_gene_variant SKCA-BR 7 38420847 38420847 single base substitution C T downstream_gene_variant SKCA-BR 7 38421959 38421959 single base substitution G A downstream_gene_variant SKCA-BR 7 38422146 38422146 single base substitution G C downstream_gene_variant SKCA-BR 7 38423271 38423271 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 7 38423315 38423315 single base substitution C T 3_prime_UTR_variant SKCA-BR 7 38423315 38423315 single base substitution C T downstream_gene_variant SKCA-BR 7 38423685 38423685 insertion of <=200bp - TACAA 3_prime_UTR_variant SKCA-BR 7 38423685 38423685 insertion of <=200bp - TACAA downstream_gene_variant SKCA-BR 7 38423801 38423801 single base substitution G A 3_prime_UTR_variant SKCA-BR 7 38423801 38423801 single base substitution G A downstream_gene_variant SKCA-BR 7 38424021 38424021 single base substitution G A 3_prime_UTR_variant SKCA-BR 7 38424021 38424021 single base substitution G A downstream_gene_variant SKCA-BR 7 38424890 38424890 single base substitution T G downstream_gene_variant SKCA-BR 7 38424890 38424890 single base substitution T G intron_variant SKCA-BR 7 38425791 38425791 single base substitution G A downstream_gene_variant SKCA-BR 7 38425791 38425791 single base substitution G A intron_variant SKCA-BR 7 38427045 38427045 single base substitution G A downstream_gene_variant SKCA-BR 7 38427045 38427045 single base substitution G A intron_variant SKCA-BR 7 38427186 38427186 single base substitution C A downstream_gene_variant SKCA-BR 7 38427186 38427186 single base substitution C A intron_variant SKCA-BR 7 38427824 38427824 single base substitution C T downstream_gene_variant SKCA-BR 7 38427824 38427824 single base substitution C T intron_variant SKCA-BR 7 38428168 38428168 single base substitution G A downstream_gene_variant SKCA-BR 7 38428168 38428168 single base substitution G A intron_variant SKCA-BR 7 38428637 38428637 single base substitution G A downstream_gene_variant SKCA-BR 7 38428637 38428637 single base substitution G A intron_variant SKCA-BR 7 38431382 38431382 single base substitution G A downstream_gene_variant SKCA-BR 7 38431382 38431382 single base substitution G A exon_variant SKCA-BR 7 38431382 38431382 single base substitution G A synonymous_variant A497A 1491C>T SKCA-BR 7 38431382 38431382 single base substitution G A synonymous_variant A573A 1719C>T SKCA-BR 7 38431382 38431382 single base substitution G A synonymous_variant A615A 1845C>T SKCA-BR 7 38431895 38431895 single base substitution G A downstream_gene_variant SKCA-BR 7 38431895 38431895 single base substitution G A intron_variant SKCA-BR 7 38433543 38433543 single base substitution A G downstream_gene_variant SKCA-BR 7 38433543 38433543 single base substitution A G intron_variant SKCA-BR 7 38433543 38433543 single base substitution A G upstream_gene_variant SKCA-BR 7 38434137 38434137 single base substitution C T intron_variant SKCA-BR 7 38434137 38434137 single base substitution C T upstream_gene_variant SKCA-BR 7 38434585 38434585 single base substitution C T intron_variant SKCA-BR 7 38434585 38434585 single base substitution C T upstream_gene_variant SKCA-BR 7 38434824 38434824 insertion of <=200bp - GAA intron_variant SKCA-BR 7 38434824 38434824 insertion of <=200bp - GAA upstream_gene_variant SKCA-BR 7 38437791 38437796 deletion of <=200bp AAAAAC - intron_variant SKCA-BR 7 38438630 38438630 single base substitution G A intron_variant SKCA-BR 7 38440507 38440507 single base substitution C T intron_variant SKCA-BR 7 38442295 38442295 single base substitution T G intron_variant SKCA-BR 7 38442322 38442322 single base substitution T G intron_variant SKCA-BR 7 38442858 38442858 single base substitution G A intron_variant SKCA-BR 7 38443816 38443816 single base substitution A G intron_variant SKCA-BR 7 38444669 38444670 deletion of <=200bp GA - intron_variant SKCA-BR 7 38446324 38446328 deletion of <=200bp CCCTT - intron_variant SKCA-BR 7 38447232 38447232 single base substitution T A intron_variant SKCA-BR 7 38447992 38447992 single base substitution C T intron_variant SKCA-BR 7 38448120 38448120 single base substitution G A intron_variant SKCA-BR 7 38452543 38452543 single base substitution G A intron_variant SKCA-BR 7 38452648 38452648 single base substitution C T intron_variant SKCA-BR 7 38458103 38458103 single base substitution G A intron_variant SKCA-BR 7 38458103 38458103 single base substitution G A upstream_gene_variant SKCA-BR 7 38458162 38458162 single base substitution G A intron_variant SKCA-BR 7 38458162 38458162 single base substitution G A upstream_gene_variant SKCA-BR 7 38458163 38458163 single base substitution G A intron_variant SKCA-BR 7 38458163 38458163 single base substitution G A upstream_gene_variant SKCA-BR 7 38460375 38460375 single base substitution G A intron_variant SKCA-BR 7 38460375 38460375 single base substitution G A upstream_gene_variant SKCA-BR 7 38460546 38460546 single base substitution G A 3_prime_UTR_variant SKCA-BR 7 38460546 38460546 single base substitution G A intron_variant SKCA-BR 7 38460546 38460546 single base substitution G A upstream_gene_variant SKCA-BR 7 38460570 38460570 single base substitution C T 3_prime_UTR_variant SKCA-BR 7 38460570 38460570 single base substitution C T intron_variant SKCA-BR 7 38460570 38460570 single base substitution C T upstream_gene_variant SKCA-BR 7 38462154 38462154 insertion of <=200bp - GTATCTATC intron_variant SKCA-BR 7 38462154 38462154 insertion of <=200bp - GTATCTATC upstream_gene_variant SKCA-BR 7 38463013 38463014 deletion of <=200bp GC - intron_variant SKCA-BR 7 38472748 38472748 single base substitution C T intron_variant SKCA-BR 7 38472748 38472748 single base substitution C T upstream_gene_variant SKCA-BR 7 38473720 38473720 single base substitution T G intron_variant SKCA-BR 7 38473720 38473720 single base substitution T G upstream_gene_variant SKCA-BR 7 38474132 38474132 single base substitution G A intron_variant SKCA-BR 7 38474132 38474132 single base substitution G A upstream_gene_variant SKCA-BR 7 38474342 38474343 deletion of <=200bp GA - intron_variant SKCA-BR 7 38474342 38474343 deletion of <=200bp GA - upstream_gene_variant SKCA-BR 7 38475496 38475496 single base substitution G A intron_variant SKCA-BR 7 38475621 38475621 single base substitution T C intron_variant SKCA-BR 7 38476288 38476288 single base substitution C T intron_variant SKCA-BR 7 38477187 38477187 single base substitution C T intron_variant SKCA-BR 7 38477474 38477474 single base substitution T C intron_variant SKCA-BR 7 38481370 38481370 single base substitution G C intron_variant SKCA-BR 7 38481386 38481386 single base substitution C A intron_variant SKCA-BR 7 38481399 38481401 deletion of <=200bp CAT - intron_variant SKCA-BR 7 38481406 38481406 single base substitution A C intron_variant SKCA-BR 7 38481408 38481408 single base substitution A C intron_variant SKCA-BR 7 38481410 38481410 single base substitution C G intron_variant SKCA-BR 7 38481426 38481426 insertion of <=200bp - CTG intron_variant SKCA-BR 7 38481456 38481456 insertion of <=200bp - ATC intron_variant SKCA-BR 7 38481476 38481476 single base substitution A C intron_variant SKCA-BR 7 38481554 38481554 single base substitution G A intron_variant SKCA-BR 7 38482155 38482155 single base substitution C T intron_variant SKCA-BR 7 38482374 38482374 single base substitution T G intron_variant SKCA-BR 7 38483655 38483655 insertion of <=200bp - GA intron_variant SKCA-BR 7 38484590 38484592 deletion of <=200bp CAT - intron_variant SKCA-BR 7 38484600 38484600 single base substitution T C intron_variant SKCA-BR 7 38485142 38485142 single base substitution G A intron_variant SKCA-BR 7 38485534 38485534 single base substitution A C intron_variant SKCA-BR 7 38487238 38487238 single base substitution C T intron_variant SKCA-BR 7 38488458 38488458 single base substitution G A intron_variant SKCA-BR 7 38493469 38493469 single base substitution G A intron_variant SKCA-BR 7 38493959 38493959 single base substitution T C intron_variant SKCA-BR 7 38494153 38494153 single base substitution A C intron_variant SKCA-BR 7 38494659 38494659 single base substitution G A intron_variant SKCA-BR 7 38497682 38497682 single base substitution G A intron_variant SKCA-BR 7 38499646 38499646 single base substitution C T intron_variant SKCA-BR 7 38500048 38500048 single base substitution A G intron_variant SKCA-BR 7 38500940 38500940 single base substitution G A synonymous_variant I320I 960C>T SKCA-BR 7 38500940 38500940 single base substitution G A synonymous_variant I70I 210C>T SKCA-BR 7 38502467 38502467 single base substitution C T intron_variant SKCA-BR 7 38503597 38503597 single base substitution A T intron_variant SKCA-BR 7 38503597 38503597 single base substitution A T upstream_gene_variant SKCA-BR 7 38510729 38510729 single base substitution C T intron_variant SKCA-BR 7 38512460 38512460 single base substitution C T intron_variant SKCA-BR 7 38513393 38513393 single base substitution T A intron_variant SKCA-BR 7 38514386 38514386 single base substitution G A intron_variant SKCA-BR 7 38514467 38514467 single base substitution A T intron_variant SKCA-BR 7 38518471 38518471 single base substitution G A intron_variant SKCA-BR 7 38518543 38518543 single base substitution G A intron_variant SKCA-BR 7 38520783 38520783 single base substitution G A intron_variant SKCA-BR 7 38521703 38521703 single base substitution T G intron_variant SKCA-BR 7 38522914 38522914 single base substitution G A intron_variant SKCA-BR 7 38525446 38525446 single base substitution G A intron_variant SKCA-BR 7 38525683 38525683 single base substitution G A intron_variant SKCA-BR 7 38527721 38527721 single base substitution C T intron_variant SKCA-BR 7 38530563 38530563 single base substitution G A intron_variant SKCA-BR 7 38531562 38531562 single base substitution C T intron_variant SKCA-BR 7 38531735 38531735 single base substitution A G intron_variant SKCA-BR 7 38537360 38537360 single base substitution G A intron_variant SKCA-BR 7 38538131 38538131 single base substitution A C intron_variant SKCA-BR 7 38539606 38539606 single base substitution C A intron_variant SKCA-BR 7 38539636 38539636 single base substitution G A intron_variant SKCA-BR 7 38539667 38539667 single base substitution G A intron_variant SKCA-BR 7 38540613 38540613 single base substitution G A intron_variant SKCA-BR 7 38542977 38542977 single base substitution A T intron_variant SKCA-BR 7 38543095 38543095 insertion of <=200bp - CG intron_variant SKCA-BR 7 38547745 38547745 single base substitution G A intron_variant SKCA-BR 7 38548955 38548955 single base substitution C T intron_variant SKCA-BR 7 38549568 38549569 deletion of <=200bp GA - intron_variant SKCA-BR 7 38551394 38551394 single base substitution G A intron_variant SKCA-BR 7 38553158 38553158 single base substitution T A intron_variant SKCA-BR 7 38555945 38555945 single base substitution T C intron_variant SKCA-BR 7 38556615 38556615 single base substitution G A intron_variant SKCA-BR 7 38559769 38559769 single base substitution T C intron_variant SKCA-BR 7 38561325 38561325 single base substitution C T intron_variant SKCA-BR 7 38561374 38561374 single base substitution C T intron_variant SKCA-BR 7 38561861 38561861 single base substitution C T intron_variant SKCA-BR 7 38561881 38561881 single base substitution T A intron_variant SKCA-BR 7 38564858 38564858 insertion of <=200bp - GTA intron_variant SKCA-BR 7 38564860 38564860 single base substitution A G intron_variant SKCA-BR 7 38564873 38564881 deletion of <=200bp TATATAGAG - intron_variant SKCA-BR 7 38565514 38565514 single base substitution G A intron_variant SKCA-BR 7 38565544 38565544 single base substitution C T intron_variant SKCA-BR 7 38566033 38566033 insertion of <=200bp - CTT intron_variant SKCA-BR 7 38566475 38566475 single base substitution C T intron_variant SKCA-BR 7 38567342 38567342 single base substitution C T intron_variant SKCA-BR 7 38569113 38569113 single base substitution C T intron_variant SKCA-BR 7 38569296 38569296 single base substitution G A intron_variant SKCA-BR 7 38573387 38573387 single base substitution C T intron_variant SKCA-BR 7 38576118 38576118 single base substitution C A intron_variant SKCA-BR 7 38576298 38576298 single base substitution T C intron_variant SKCA-BR 7 38576475 38576475 single base substitution C A intron_variant SKCA-BR 7 38577624 38577624 single base substitution C T intron_variant SKCA-BR 7 38578279 38578279 single base substitution G A intron_variant SKCA-BR 7 38578402 38578402 single base substitution G A intron_variant SKCA-BR 7 38578429 38578429 single base substitution C T intron_variant SKCA-BR 7 38579972 38579972 single base substitution G A intron_variant SKCA-BR 7 38582643 38582643 single base substitution G A intron_variant SKCA-BR 7 38583692 38583692 single base substitution G A intron_variant SKCA-BR 7 38586099 38586099 single base substitution G A intron_variant SKCA-BR 7 38586401 38586401 single base substitution G A intron_variant SKCA-BR 7 38586824 38586824 single base substitution C T intron_variant SKCA-BR 7 38588190 38588190 single base substitution G A intron_variant SKCA-BR 7 38590389 38590389 single base substitution C T intron_variant SKCA-BR 7 38592013 38592013 single base substitution A G intron_variant SKCA-BR 7 38594183 38594183 single base substitution A C intron_variant SKCA-BR 7 38595109 38595109 single base substitution A G intron_variant SKCA-BR 7 38596947 38596947 single base substitution T C intron_variant SKCA-BR 7 38598747 38598747 single base substitution T C intron_variant SKCA-BR 7 38600176 38600176 single base substitution A G intron_variant SKCA-BR 7 38600516 38600516 single base substitution T C intron_variant SKCA-BR 7 38600837 38600837 single base substitution G A intron_variant SKCA-BR 7 38601062 38601062 single base substitution T C intron_variant SKCA-BR 7 38604261 38604261 single base substitution G A intron_variant SKCA-BR 7 38605376 38605376 single base substitution A T intron_variant SKCA-BR 7 38610527 38610527 insertion of <=200bp - TTATATATA intron_variant SKCA-BR 7 38610570 38610572 deletion of <=200bp AAT - intron_variant SKCA-BR 7 38610651 38610651 single base substitution A T intron_variant SKCA-BR 7 38610653 38610653 single base substitution T A intron_variant SKCA-BR 7 38610661 38610661 single base substitution T A intron_variant SKCA-BR 7 38611647 38611647 single base substitution A C intron_variant SKCA-BR 7 38616285 38616285 single base substitution T G intron_variant SKCA-BR 7 38617337 38617337 single base substitution G A intron_variant SKCA-BR 7 38620310 38620310 single base substitution G A intron_variant SKCA-BR 7 38620637 38620637 single base substitution T A intron_variant SKCA-BR 7 38621589 38621589 single base substitution G A intron_variant SKCA-BR 7 38621755 38621755 single base substitution A G intron_variant SKCA-BR 7 38625300 38625300 single base substitution G A intron_variant SKCA-BR 7 38626549 38626549 single base substitution A T intron_variant SKCA-BR 7 38626640 38626640 single base substitution T C intron_variant SKCA-BR 7 38627545 38627545 single base substitution T C intron_variant SKCA-BR 7 38631761 38631761 single base substitution C T intron_variant SKCA-BR 7 38632768 38632768 single base substitution G A intron_variant SKCA-BR 7 38633275 38633275 single base substitution G A intron_variant SKCA-BR 7 38633336 38633336 single base substitution G A intron_variant SKCA-BR 7 38634093 38634093 single base substitution T G intron_variant SKCA-BR 7 38634780 38634780 single base substitution G A intron_variant SKCA-BR 7 38634864 38634864 single base substitution C T intron_variant SKCA-BR 7 38636341 38636341 single base substitution C T intron_variant SKCA-BR 7 38637595 38637595 single base substitution T C intron_variant SKCA-BR 7 38638123 38638123 single base substitution C T intron_variant SKCA-BR 7 38638705 38638705 single base substitution C T intron_variant SKCA-BR 7 38639200 38639200 single base substitution A T intron_variant SKCA-BR 7 38639216 38639216 single base substitution C G intron_variant SKCA-BR 7 38641630 38641630 single base substitution G A intron_variant SKCA-BR 7 38642494 38642494 single base substitution C T intron_variant SKCA-BR 7 38644354 38644354 single base substitution C T intron_variant SKCA-BR 7 38644996 38644996 single base substitution G A intron_variant SKCA-BR 7 38646395 38646395 single base substitution G A intron_variant SKCA-BR 7 38646647 38646647 single base substitution C T intron_variant SKCA-BR 7 38647039 38647039 single base substitution A G intron_variant SKCA-BR 7 38648308 38648308 single base substitution G A intron_variant SKCA-BR 7 38649202 38649202 single base substitution G A intron_variant SKCA-BR 7 38649842 38649842 insertion of <=200bp - AG intron_variant SKCA-BR 7 38649982 38649982 single base substitution G A intron_variant SKCA-BR 7 38651163 38651163 single base substitution T C intron_variant SKCA-BR 7 38652005 38652005 single base substitution G A intron_variant SKCA-BR 7 38655567 38655567 single base substitution C T intron_variant SKCA-BR 7 38655829 38655829 single base substitution G A intron_variant SKCA-BR 7 38657480 38657480 single base substitution G A intron_variant SKCA-BR 7 38657481 38657481 single base substitution G A intron_variant SKCA-BR 7 38658355 38658355 single base substitution A C intron_variant SKCA-BR 7 38658624 38658624 single base substitution G A intron_variant SKCA-BR 7 38660666 38660666 single base substitution G A intron_variant SKCA-BR 7 38663121 38663121 single base substitution G A intron_variant SKCA-BR 7 38663692 38663692 single base substitution G T intron_variant SKCA-BR 7 38664307 38664307 single base substitution G A intron_variant SKCA-BR 7 38664822 38664822 single base substitution C T intron_variant SKCA-BR 7 38665429 38665429 single base substitution T G intron_variant SKCA-BR 7 38666190 38666190 single base substitution C T intron_variant SKCA-BR 7 38666926 38666926 single base substitution G A intron_variant SKCA-BR 7 38668277 38668277 single base substitution G A intron_variant SKCA-BR 7 38668917 38668917 single base substitution C T intron_variant SKCA-BR 7 38669506 38669506 single base substitution T G intron_variant SKCA-BR 7 38670768 38670768 single base substitution C T intron_variant SKCA-BR 7 38671413 38671413 single base substitution A C upstream_gene_variant SKCA-BR 7 38671660 38671660 single base substitution G A upstream_gene_variant SKCA-BR 7 38671661 38671661 single base substitution G A upstream_gene_variant SKCA-BR 7 38671914 38671914 single base substitution C T upstream_gene_variant SKCA-BR 7 38672003 38672003 single base substitution C A upstream_gene_variant SKCA-BR 7 38672331 38672331 single base substitution C T upstream_gene_variant SKCM-US 7 38424437 38424437 single base substitution G A synonymous_variant F572F 1716C>T SKCM-US 7 38424437 38424437 single base substitution G A synonymous_variant F648F 1944C>T SKCM-US 7 38424437 38424437 single base substitution G A synonymous_variant F690F 2070C>T SKCM-US 7 38424445 38424445 single base substitution C T missense_variant E570K 1708G>A SKCM-US 7 38424445 38424445 single base substitution C T missense_variant E646K 1936G>A SKCM-US 7 38424445 38424445 single base substitution C T missense_variant E688K 2062G>A SKCM-US 7 38424484 38424484 single base substitution G A downstream_gene_variant SKCM-US 7 38424484 38424484 single base substitution G A stop_gained Q557* 1669C>T SKCM-US 7 38424484 38424484 single base substitution G A stop_gained Q633* 1897C>T SKCM-US 7 38424484 38424484 single base substitution G A stop_gained Q675* 2023C>T SKCM-US 7 38424495 38424495 single base substitution G A downstream_gene_variant SKCM-US 7 38424495 38424495 single base substitution G A missense_variant S553L 1658C>T SKCM-US 7 38424495 38424495 single base substitution G A missense_variant S629L 1886C>T SKCM-US 7 38424495 38424495 single base substitution G A missense_variant S671L 2012C>T SKCM-US 7 38429504 38429504 single base substitution C T downstream_gene_variant SKCM-US 7 38429504 38429504 single base substitution C T splice_region_variant SKCM-US 7 38431535 38431535 single base substitution C T downstream_gene_variant SKCM-US 7 38431535 38431535 single base substitution C T exon_variant SKCM-US 7 38431535 38431535 single base substitution C T synonymous_variant E446E 1338G>A SKCM-US 7 38431535 38431535 single base substitution C T synonymous_variant E522E 1566G>A SKCM-US 7 38431535 38431535 single base substitution C T synonymous_variant E564E 1692G>A SKCM-US 7 38431555 38431555 single base substitution C T downstream_gene_variant SKCM-US 7 38431555 38431555 single base substitution C T exon_variant SKCM-US 7 38431555 38431555 single base substitution C T missense_variant E440K 1318G>A SKCM-US 7 38431555 38431555 single base substitution C T missense_variant E516K 1546G>A SKCM-US 7 38431555 38431555 single base substitution C T missense_variant E558K 1672G>A SKCM-US 7 38431577 38431577 single base substitution G A downstream_gene_variant SKCM-US 7 38431577 38431577 single base substitution G A exon_variant SKCM-US 7 38431577 38431577 single base substitution G A synonymous_variant N432N 1296C>T SKCM-US 7 38431577 38431577 single base substitution G A synonymous_variant N508N 1524C>T SKCM-US 7 38431577 38431577 single base substitution G A synonymous_variant N550N 1650C>T SKCM-US 7 38431605 38431605 single base substitution G A 3_prime_UTR_variant SKCM-US 7 38431605 38431605 single base substitution G A downstream_gene_variant SKCM-US 7 38431605 38431605 single base substitution G A exon_variant SKCM-US 7 38431605 38431605 single base substitution G A missense_variant P423L 1268C>T SKCM-US 7 38431605 38431605 single base substitution G A missense_variant P499L 1496C>T SKCM-US 7 38431605 38431605 single base substitution G A missense_variant P541L 1622C>T SKCM-US 7 38433605 38433605 single base substitution C T downstream_gene_variant SKCM-US 7 38433605 38433605 single base substitution C T splice_region_variant SKCM-US 7 38433605 38433605 single base substitution C T upstream_gene_variant SKCM-US 7 38433628 38433628 single base substitution C T 3_prime_UTR_variant SKCM-US 7 38433628 38433628 single base substitution C T downstream_gene_variant SKCM-US 7 38433628 38433628 single base substitution C T exon_variant SKCM-US 7 38433628 38433628 single base substitution C T missense_variant E411K 1231G>A SKCM-US 7 38433628 38433628 single base substitution C T missense_variant E487K 1459G>A SKCM-US 7 38433628 38433628 single base substitution C T missense_variant E529K 1585G>A SKCM-US 7 38433628 38433628 single base substitution C T upstream_gene_variant SKCM-US 7 38433665 38433665 single base substitution G A 3_prime_UTR_variant SKCM-US 7 38433665 38433665 single base substitution G A downstream_gene_variant SKCM-US 7 38433665 38433665 single base substitution G A exon_variant SKCM-US 7 38433665 38433665 single base substitution G A synonymous_variant T398T 1194C>T SKCM-US 7 38433665 38433665 single base substitution G A synonymous_variant T474T 1422C>T SKCM-US 7 38433665 38433665 single base substitution G A synonymous_variant T516T 1548C>T SKCM-US 7 38433665 38433665 single base substitution G A upstream_gene_variant SKCM-US 7 38433666 38433666 single base substitution G A 3_prime_UTR_variant SKCM-US 7 38433666 38433666 single base substitution G A downstream_gene_variant SKCM-US 7 38433666 38433666 single base substitution G A exon_variant SKCM-US 7 38433666 38433666 single base substitution G A missense_variant T398I 1193C>T SKCM-US 7 38433666 38433666 single base substitution G A missense_variant T474I 1421C>T SKCM-US 7 38433666 38433666 single base substitution G A missense_variant T516I 1547C>T SKCM-US 7 38433666 38433666 single base substitution G A upstream_gene_variant SKCM-US 7 38433676 38433676 single base substitution C T 3_prime_UTR_variant SKCM-US 7 38433676 38433676 single base substitution C T exon_variant SKCM-US 7 38433676 38433676 single base substitution C T missense_variant G395R 1183G>A SKCM-US 7 38433676 38433676 single base substitution C T missense_variant G471R 1411G>A SKCM-US 7 38433676 38433676 single base substitution C T missense_variant G513R 1537G>A SKCM-US 7 38433676 38433676 single base substitution C T upstream_gene_variant SKCM-US 7 38433715 38433715 single base substitution G A 3_prime_UTR_variant SKCM-US 7 38433715 38433715 single base substitution G A exon_variant SKCM-US 7 38433715 38433715 single base substitution G A missense_variant P382S 1144C>T SKCM-US 7 38433715 38433715 single base substitution G A missense_variant P458S 1372C>T SKCM-US 7 38433715 38433715 single base substitution G A missense_variant P500S 1498C>T SKCM-US 7 38433715 38433715 single base substitution G A upstream_gene_variant SKCM-US 7 38457541 38457541 single base substitution C T exon_variant SKCM-US 7 38457541 38457541 single base substitution C T intron_variant SKCM-US 7 38457541 38457541 single base substitution C T missense_variant E428K 1282G>A SKCM-US 7 38466582 38466582 single base substitution G A exon_variant SKCM-US 7 38466582 38466582 single base substitution G A missense_variant S320F 959C>T SKCM-US 7 38466582 38466582 single base substitution G A missense_variant S396F 1187C>T SKCM-US 7 38500904 38500904 single base substitution G A synonymous_variant I332I 996C>T SKCM-US 7 38500904 38500904 single base substitution G A synonymous_variant I82I 246C>T SKCM-US 7 38500937 38500937 single base substitution G A synonymous_variant I321I 963C>T SKCM-US 7 38500937 38500937 single base substitution G A synonymous_variant I71I 213C>T SKCM-US 7 38500990 38500990 single base substitution G A missense_variant P304S 910C>T SKCM-US 7 38500990 38500990 single base substitution G A missense_variant P54S 160C>T SKCM-US 7 38516566 38516566 single base substitution G A missense_variant R134C 400C>T SKCM-US 7 38530661 38530661 single base substitution G A missense_variant P129S 385C>T SKCM-US 7 38534056 38534056 single base substitution C T missense_variant E93K 277G>A SKCM-US 7 38534086 38534086 single base substitution C T missense_variant E83K 247G>A SKCM-US 7 38534094 38534094 single base substitution G A missense_variant S80L 239C>T SKCM-US 7 38543259 38543259 single base substitution C T missense_variant A66T 196G>A SKCM-US 7 38574543 38574543 single base substitution G A synonymous_variant F46F 138C>T SKCM-US 7 38574563 38574563 single base substitution C T missense_variant E40K 118G>A SKCM-US 7 38574572 38574572 single base substitution C T missense_variant E37K 109G>A STAD-US 7 38424457 38424457 single base substitution C A downstream_gene_variant STAD-US 7 38424457 38424457 single base substitution C A missense_variant G566C 1696G>T STAD-US 7 38424457 38424457 single base substitution C A missense_variant G642C 1924G>T STAD-US 7 38424457 38424457 single base substitution C A missense_variant G684C 2050G>T STAD-US 7 38431519 38431519 single base substitution C T downstream_gene_variant STAD-US 7 38431519 38431519 single base substitution C T exon_variant STAD-US 7 38431519 38431519 single base substitution C T missense_variant E452K 1354G>A STAD-US 7 38431519 38431519 single base substitution C T missense_variant E528K 1582G>A STAD-US 7 38431519 38431519 single base substitution C T missense_variant E570K 1708G>A STAD-US 7 38433635 38433635 single base substitution T C 3_prime_UTR_variant STAD-US 7 38433635 38433635 single base substitution T C downstream_gene_variant STAD-US 7 38433635 38433635 single base substitution T C exon_variant STAD-US 7 38433635 38433635 single base substitution T C synonymous_variant E408E 1224A>G STAD-US 7 38433635 38433635 single base substitution T C synonymous_variant E484E 1452A>G STAD-US 7 38433635 38433635 single base substitution T C synonymous_variant E526E 1578A>G STAD-US 7 38433635 38433635 single base substitution T C upstream_gene_variant STAD-US 7 38433753 38433753 single base substitution G A 3_prime_UTR_variant STAD-US 7 38433753 38433753 single base substitution G A exon_variant STAD-US 7 38433753 38433753 single base substitution G A missense_variant A369V 1106C>T STAD-US 7 38433753 38433753 single base substitution G A missense_variant A445V 1334C>T STAD-US 7 38433753 38433753 single base substitution G A missense_variant A487V 1460C>T STAD-US 7 38433753 38433753 single base substitution G A upstream_gene_variant STAD-US 7 38462019 38462019 single base substitution A G splice_donor_variant STAD-US 7 38462019 38462019 single base substitution A G upstream_gene_variant STAD-US 7 38469442 38469442 single base substitution C T intron_variant STAD-US 7 38469442 38469442 single base substitution C T splice_region_variant STAD-US 7 38469442 38469442 single base substitution C T upstream_gene_variant STAD-US 7 38475965 38475965 single base substitution T A missense_variant K347N 1041A>T STAD-US 7 38475965 38475965 single base substitution T A missense_variant K97N 291A>T STAD-US 7 38502674 38502674 single base substitution C T synonymous_variant P13P 39G>A STAD-US 7 38502674 38502674 single base substitution C T synonymous_variant P263P 789G>A STAD-US 7 38502690 38502690 single base substitution G A missense_variant A258V 773C>T STAD-US 7 38502690 38502690 single base substitution G A missense_variant A8V 23C>T STAD-US 7 38505774 38505774 single base substitution A T missense_variant V222E 665T>A STAD-US 7 38505774 38505774 single base substitution A T upstream_gene_variant STAD-US 7 38505777 38505777 single base substitution G A missense_variant A221V 662C>T STAD-US 7 38505777 38505777 single base substitution G A upstream_gene_variant STAD-US 7 38505843 38505843 single base substitution A G missense_variant V199A 596T>C STAD-US 7 38505843 38505843 single base substitution A G upstream_gene_variant STAD-US 7 38530710 38530710 single base substitution T G missense_variant K112N 336A>C STAD-US 7 38534085 38534085 single base substitution T A missense_variant E83V 248A>T STAD-US 7 38534094 38534094 single base substitution G A missense_variant S80L 239C>T STAD-US 7 38574563 38574563 single base substitution C T missense_variant E40K 118G>A UCEC-US 7 38424452 38424452 single base substitution G T downstream_gene_variant UCEC-US 7 38424452 38424452 single base substitution G T synonymous_variant L567L 1701C>A UCEC-US 7 38424452 38424452 single base substitution G T synonymous_variant L643L 1929C>A UCEC-US 7 38424452 38424452 single base substitution G T synonymous_variant L685L 2055C>A UCEC-US 7 38424475 38424475 single base substitution C G downstream_gene_variant UCEC-US 7 38424475 38424475 single base substitution C G missense_variant D560H 1678G>C UCEC-US 7 38424475 38424475 single base substitution C G missense_variant D636H 1906G>C UCEC-US 7 38424475 38424475 single base substitution C G missense_variant D678H 2032G>C UCEC-US 7 38429466 38429466 single base substitution T C downstream_gene_variant UCEC-US 7 38429466 38429466 single base substitution T C exon_variant UCEC-US 7 38429466 38429466 single base substitution T C missense_variant E522G 1565A>G UCEC-US 7 38429466 38429466 single base substitution T C missense_variant E598G 1793A>G UCEC-US 7 38429466 38429466 single base substitution T C missense_variant E640G 1919A>G UCEC-US 7 38431466 38431466 single base substitution C T downstream_gene_variant UCEC-US 7 38431466 38431466 single base substitution C T exon_variant UCEC-US 7 38431466 38431466 single base substitution C T synonymous_variant E469E 1407G>A UCEC-US 7 38431466 38431466 single base substitution C T synonymous_variant E545E 1635G>A UCEC-US 7 38431466 38431466 single base substitution C T synonymous_variant E587E 1761G>A UCEC-US 7 38433678 38433678 single base substitution A G 3_prime_UTR_variant UCEC-US 7 38433678 38433678 single base substitution A G exon_variant UCEC-US 7 38433678 38433678 single base substitution A G missense_variant I394T 1181T>C UCEC-US 7 38433678 38433678 single base substitution A G missense_variant I470T 1409T>C UCEC-US 7 38433678 38433678 single base substitution A G missense_variant I512T 1535T>C UCEC-US 7 38433678 38433678 single base substitution A G upstream_gene_variant UCEC-US 7 38433732 38433732 single base substitution G A 3_prime_UTR_variant UCEC-US 7 38433732 38433732 single base substitution G A exon_variant UCEC-US 7 38433732 38433732 single base substitution G A missense_variant A376V 1127C>T UCEC-US 7 38433732 38433732 single base substitution G A missense_variant A452V 1355C>T UCEC-US 7 38433732 38433732 single base substitution G A missense_variant A494V 1481C>T UCEC-US 7 38433732 38433732 single base substitution G A upstream_gene_variant UCEC-US 7 38433787 38433787 single base substitution C T 3_prime_UTR_variant UCEC-US 7 38433787 38433787 single base substitution C T exon_variant UCEC-US 7 38433787 38433787 single base substitution C T missense_variant A358T 1072G>A UCEC-US 7 38433787 38433787 single base substitution C T missense_variant A434T 1300G>A UCEC-US 7 38433787 38433787 single base substitution C T missense_variant A476T 1426G>A UCEC-US 7 38433787 38433787 single base substitution C T upstream_gene_variant UCEC-US 7 38457432 38457432 single base substitution T C exon_variant UCEC-US 7 38457432 38457432 single base substitution T C intron_variant UCEC-US 7 38457432 38457432 single base substitution T C missense_variant E464G 1391A>G UCEC-US 7 38466574 38466574 single base substitution A T exon_variant UCEC-US 7 38466574 38466574 single base substitution A T missense_variant S323T 967T>A UCEC-US 7 38466574 38466574 single base substitution A T missense_variant S399T 1195T>A UCEC-US 7 38500961 38500961 single base substitution C A missense_variant K313N 939G>T UCEC-US 7 38500961 38500961 single base substitution C A missense_variant K63N 189G>T UCEC-US 7 38502589 38502589 single base substitution G A missense_variant R292W 874C>T UCEC-US 7 38502589 38502589 single base substitution G A missense_variant R42W 124C>T UCEC-US 7 38502604 38502604 single base substitution C T missense_variant A287T 859G>A UCEC-US 7 38502604 38502604 single base substitution C T missense_variant A37T 109G>A UCEC-US 7 38502699 38502699 single base substitution A G missense_variant L255P 764T>C UCEC-US 7 38502699 38502699 single base substitution A G missense_variant L5P 14T>C UCEC-US 7 38505847 38505847 single base substitution G A stop_gained R198* 592C>T UCEC-US 7 38505847 38505847 single base substitution G A upstream_gene_variant UCEC-US 7 38514956 38514956 single base substitution C A stop_gained E189* 565G>T UCEC-US 7 38530740 38530740 single base substitution A C missense_variant C102W 306T>G UCEC-US 7 38534107 38534107 single base substitution T G missense_variant K76Q 226A>C UCEC-US 7 38574563 38574563 single base substitution C T missense_variant E40K 118G>A UCEC-US 7 38574564 38574564 single base substitution G A synonymous_variant F39F 117C>T UCEC-US 7 38574606 38574606 single base substitution G A synonymous_variant L25L 75C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand LUAD-YINHD COSM351613 c.388G>A p.D130N Substitution - Missense 7:38491058-38491058 - T578 COSM4661451 c.1018-1G>T p.? Unknown 7:38436389-38436389 - TCGA-AA-A00N-01 COSM273964 c.1594G>T p.A532S Substitution - Missense 7:38394019-38394019 - PCSI_0056_Pa_X COSM3381913 c.151G>A p.A51T Substitution - Missense 7:38503704-38503704 - ESCC-127T COSM3942210 c.1985C>A p.A662E Substitution - Missense 7:38384921-38384921 - TCGA-EE-A29V-06 COSM138613 c.1672G>A p.E558K Substitution - Missense 7:38391954-38391954 - SK-MEL-5 COSM1673120 c.451C>T p.H151Y Substitution - Missense 7:38476915-38476915 - CHC1044T COSM4791057 c.2070C>A p.F690L Substitution - Missense 7:38384836-38384836 - S42_post COSM5574389 c.1571A>G p.Q524R Substitution - Missense 7:38394042-38394042 - 2492722 COSM5720906 c.1291C>T p.P431S Substitution - Missense 7:38417932-38417932 - TCGA-B5-A11N-01 COSM187280 c.117C>T p.F39F Substitution - coding silent 7:38534964-38534964 - TCGA-EB-A3XC-01 COSM3638542 c.2012C>T p.S671L Substitution - Missense 7:38384894-38384894 - STC263 COSM5062452 c.928A>G p.T310A Substitution - Missense 7:38461372-38461372 - TCGA-EE-A2MJ-06 COSM3638557 c.1537G>A p.G513R Substitution - Missense 7:38394076-38394076 - YULETA COSM3638562 c.996C>T p.I332I Substitution - coding silent 7:38461304-38461304 - 034T COSM1728597 c.2020C>A p.L674I Substitution - Missense 7:38384886-38384886 - HCC38 COSM1622830 c.1060C>T p.L354L Substitution - coding silent 7:38436346-38436346 - TCGA-CD-8529-01 COSM3880902 c.248A>T p.E83V Substitution - Missense 7:38494485-38494485 - TCGA-G2-A3IB-01 COSM1313070 c.973G>A p.E325K Substitution - Missense 7:38461327-38461327 - 587376 COSM1182710 c.763C>T p.L255F Substitution - Missense 7:38463100-38463100 - TCGA-D7-6822-01 COSM3880895 c.665T>A p.V222E Substitution - Missense 7:38466174-38466174 - TCGA-FW-A3R5-06 COSM3923592 c.109G>A p.E37K Substitution - Missense 7:38534972-38534972 - HCC009T COSM5819886 c.329A>T p.H110L Substitution - Missense 7:38491117-38491117 - TCGA-MI-A75I-01 COSM4930235 c.1273G>T p.A425S Substitution - Missense 7:38417950-38417950 - TCGA-BR-4362-01 COSM1580474 c.662C>T p.A221V Substitution - Missense 7:38466177-38466177 - CSCC-56-T COSM4471482 c.1720C>T p.P574S Substitution - Missense 7:38391906-38391906 - TCGA-AC-A2QI-01 COSM3832745 c.2023C>T p.Q675* Substitution - Nonsense 7:38384883-38384883 - ESCC_164 COSM1313069 c.1737C>T p.S579S Substitution - coding silent 7:38391889-38391889 - TCGA-CG-5721-01 COSM3880898 c.596T>C p.V199A Substitution - Missense 7:38466243-38466243 - ASHPC_0031_Pa_P COSM1450612 c.868C>T p.R290W Substitution - Missense 7:38462995-38462995 - TCGA-AA-A00N-01 COSM173264 c.874C>T p.R292W Substitution - Missense 7:38462989-38462989 - LUAD-F00121 COSM365873 c.782C>A p.P261Q Substitution - Missense 7:38463081-38463081 - T39 COSM453020 c.2077C>T p.R693C Substitution - Missense 7:38384829-38384829 - S02243 COSM5701986 c.1706_1707CC>AA p.T569K Substitution - Missense 7:38391919-38391920 - ESCC_12 COSM5624954 c.1683A>T p.I561I Substitution - coding silent 7:38391943-38391943 - 450 COSM4435677 c.1907C>A p.A636E Substitution - Missense 7:38389877-38389877 - 2492721 COSM5720906 c.1291C>T p.P431S Substitution - Missense 7:38417932-38417932 - RK185_C01 COSM3768361 c.667-5C>G p.? Unknown 7:38465554-38465554 - TCGA-B5-A11E-01 COSM292289 c.1481C>T p.A494V Substitution - Missense 7:38394132-38394132 - 513 COSM3720786 c.339C>A p.L113L Substitution - coding silent 7:38491107-38491107 - LUAD-YINHD COSM351612 c.537G>C p.V179V Substitution - coding silent 7:38475384-38475384 - 12-P2194 COSM3923592 c.109G>A p.E37K Substitution - Missense 7:38534972-38534972 - S42_pre COSM5574389 c.1571A>G p.Q524R Substitution - Missense 7:38394042-38394042 - TCGA-BR-4361-01 COSM1742754 c.1708G>A p.E570K Substitution - Missense 7:38391918-38391918 - TCGA-D5-6538-01 COSM1450611 c.1376A>G p.E459G Substitution - Missense 7:38417847-38417847 - TCGA-E2-A15C-01 COSM453021 c.1801C>A p.P601T Substitution - Missense 7:38391825-38391825 - TCGA-BR-8368-01 COSM3880893 c.773C>T p.A258V Substitution - Missense 7:38463090-38463090 - RK260_C01 COSM4944188 c.154G>C p.E52Q Substitution - Missense 7:38503701-38503701 - CSCC-49-T COSM4561771 c.898G>A p.G300R Substitution - Missense 7:38461402-38461402 - TCGA-85-6561-01 COSM746962 c.793G>T p.E265* Substitution - Nonsense 7:38463070-38463070 - T3301 COSM4661445 c.1638G>T p.E546D Substitution - Missense 7:38391988-38391988 - TCGA-D8-A27H-01 COSM1488538 c.2020C>T p.L674F Substitution - Missense 7:38384886-38384886 - 419 COSM4431979 c.1363G>C p.D455H Substitution - Missense 7:38417860-38417860 - TCGA-A5-A0VQ-01 COSM1089475 c.1426G>A p.A476T Substitution - Missense 7:38394187-38394187 - pfg375T COSM1192081 c.406G>A p.A136T Substitution - Missense 7:38476960-38476960 - DLBCL1000 COSM1580475 c.553G>A p.V185I Substitution - Missense 7:38475368-38475368 - sysucc-882T COSM5447759 c.57C>T p.R19R Substitution - coding silent 7:38631295-38631295 - 1N31-VS-1T31 COSM1568997 c.412C>T p.R138C Substitution - Missense 7:38476954-38476954 - T1154 COSM746963 c.859G>A p.A287T Substitution - Missense 7:38463004-38463004 - TCGA-D7-6525-01 COSM3638571 c.239C>T p.S80L Substitution - Missense 7:38494494-38494494 - 4537_T COSM3950491 c.1272+8G>T p.? Unknown 7:38422413-38422413 - T578 COSM4661454 c.813G>A p.P271P Substitution - coding silent 7:38463050-38463050 - HCC38T COSM1622830 c.1060C>T p.L354L Substitution - coding silent 7:38436346-38436346 - TCGA-BR-8485-01 COSM3880886 c.1272+2T>C p.? Unknown 7:38422419-38422419 - TCGA-B5-A0JY-01 COSM1089479 c.764T>C p.L255P Substitution - Missense 7:38463099-38463099 - SW1116 COSM3229272 c.401G>A p.R134H Substitution - Missense 7:38476965-38476965 - S02398 COSM5699654 c.935C>A p.T312K Substitution - Missense 7:38461365-38461365 - TCGA-CZ-5462-01 COSM485305 c.1688C>T p.A563V Substitution - Missense 7:38391938-38391938 - PT50 COSM5937278 c.857C>T p.P286L Substitution - Missense 7:38463006-38463006 - TCGA-AU-3779-01 COSM1450619 c.128T>C p.V43A Substitution - Missense 7:38534953-38534953 - TCGA-RP-A695-06 COSM4896762 c.277G>A p.E93K Substitution - Missense 7:38494456-38494456 - TCGA-A6-6140-01 COSM1549907 c.1713C>T p.D571D Substitution - coding silent 7:38391913-38391913 - DLBCL905 COSM1580475 c.553G>A p.V185I Substitution - Missense 7:38475368-38475368 - YUPAF COSM1686025 c.2050_2051GG>AA p.G684N Substitution - Missense 7:38384855-38384856 - CSCC-41-T COSM4530415 c.1699G>A p.E567K Substitution - Missense 7:38391927-38391927 - TCGA-BR-8059-01 COSM3880879 c.2050G>T p.G684C Substitution - Missense 7:38384856-38384856 - TCGA-AA-3831-01 COSM295001 c.1599A>G p.T533T Substitution - coding silent 7:38394014-38394014 - YUAKER COSM1698586 c.2050G>A p.G684S Substitution - Missense 7:38384856-38384856 - LUAD-D02085 COSM363429 c.1382C>T p.P461L Substitution - Missense 7:38417841-38417841 - TCGA-BS-A0UF-01 COSM173264 c.874C>T p.R292W Substitution - Missense 7:38462989-38462989 - SA213 COSM213941 c.1556G>A p.G519D Substitution - Missense 7:38394057-38394057 - PT36 COSM4532134 c.185G>A p.G62E Substitution - Missense 7:38503670-38503670 - CSCC-29-T COSM4555458 c.655G>A p.E219K Substitution - Missense 7:38466184-38466184 - TCGA-EE-A3AH-06 COSM3229284 c.138C>T p.F46F Substitution - coding silent 7:38534943-38534943 - TCGA-AO-A03M-01 COSM3832751 c.1077C>G p.F359L Substitution - Missense 7:38436329-38436329 - LUAD-NYU1219 COSM370231 c.1157C>A p.T386K Substitution - Missense 7:38432190-38432190 - MDA-MB-435 COSM1673121 c.251T>G p.V84G Substitution - Missense 7:38494482-38494482 - WA3 COSM238775 c.340G>A p.V114M Substitution - Missense 7:38491106-38491106 - BD144T COSM1728761 c.274C>T p.R92W Substitution - Missense 7:38494459-38494459 - NCI-H727 COSM3229262 c.766C>G p.R256G Substitution - Missense 7:38463097-38463097 - TCGA-G9-6342-01 COSM3674929 c.858C>A p.P286P Substitution - coding silent 7:38463005-38463005 - HCC143 COSM1622832 c.262G>T p.D88Y Substitution - Missense 7:38494471-38494471 - TCGA-FW-A3R5-06 COSM3923589 c.1585G>A p.E529K Substitution - Missense 7:38394028-38394028 - CSCC-18-T COSM4516210 c.1698_1699GG>AA p.E567K Substitution - Missense 7:38391927-38391928 - LUAD_E00623 COSM354585 c.1840G>A p.E614K Substitution - Missense 7:38391786-38391786 - TCGA-AC-A2FG-01 COSM3832749 c.1707C>T p.T569T Substitution - coding silent 7:38391919-38391919 - TCGA-D1-A16X-01 COSM1089480 c.592C>T p.R198* Substitution - Nonsense 7:38466247-38466247 - TCGA-09-1665-01 COSM77259 c.745C>T p.P249S Substitution - Missense 7:38465471-38465471 - 8067240 COSM3785094 c.1125C>A p.P375P Substitution - coding silent 7:38436281-38436281 - TCGA-06-5418-01 COSM138614 c.1146G>A p.W382* Substitution - Nonsense 7:38432201-38432201 - CLL037 COSM1292499 c.836A>G p.H279R Substitution - Missense 7:38463027-38463027 - TCGA-EE-A2MR-06 COSM3638544 c.1881G>A p.V627V Substitution - coding silent 7:38389903-38389903 - TCGA-AA-A010-01 COSM278807 c.526G>A p.A176T Substitution - Missense 7:38475395-38475395 - TCGA-B5-A11E-01 COSM1089473 c.1761G>A p.E587E Substitution - coding silent 7:38391865-38391865 - TCGA-UB-A7MB-01 COSM4932608 c.985G>T p.V329F Substitution - Missense 7:38461315-38461315 - CSCC-6-T COSM4461927 c.1226C>T p.T409I Substitution - Missense 7:38422467-38422467 - PD24202a COSM5774272 c.933G>A p.P311P Substitution - coding silent 7:38461367-38461367 - BN50 COSM1622831 c.1017+1G>A p.? Unknown 7:38461282-38461282 - TCGA-09-2050-01 COSM69458 c.591-1G>A p.? Unknown 7:38466249-38466249 - TCGA-EB-A4P0-01 COSM136596 c.385C>T p.P129S Substitution - Missense 7:38491061-38491061 - TCGA-CA-6718-01 COSM1450608 c.1590C>T p.L530L Substitution - coding silent 7:38394023-38394023 - CSCC-40-T COSM3229273 c.400C>T p.R134C Substitution - Missense 7:38476966-38476966 - TCGA-AD-5900-01 COSM1450612 c.868C>T p.R290W Substitution - Missense 7:38462995-38462995 - 3N57-VS-3T57 COSM4984029 c.4G>A p.A2T Substitution - Missense 7:38631348-38631348 - CSCC-41-T COSM3229256 c.870G>A p.R290R Substitution - coding silent 7:38462993-38462993 - 759_T COSM3950495 c.742G>A p.A248T Substitution - Missense 7:38465474-38465474 - PD9064a COSM5775814 c.51C>G p.L17L Substitution - coding silent 7:38631301-38631301 - 2521252 COSM5888968 c.1810G>A p.G604R Substitution - Missense 7:38391816-38391816 - TCGA-A8-A0A6-01 COSM3832747 c.1938T>G p.G646G Substitution - coding silent 7:38389846-38389846 - CSCC-31-T COSM4561690 c.894G>A p.R298R Substitution - coding silent 7:38461406-38461406 - TCGA-AZ-4315-01 COSM1450617 c.172C>T p.R58* Substitution - Nonsense 7:38503683-38503683 - TCGA-DM-A0XD-01 COSM1450616 c.442G>T p.A148S Substitution - Missense 7:38476924-38476924 - HCC97T COSM1622829 c.1182+7A>G p.? Unknown 7:38429835-38429835 - TCGA-D3-A5GO-06 COSM3923591 c.1282G>A p.E428K Substitution - Missense 7:38417941-38417941 - PT37 COSM5919224 c.1408G>A p.G470R Substitution - Missense 7:38394205-38394205 - TCGA-EE-A2GT-06 COSM3638573 c.196G>A p.A66T Substitution - Missense 7:38503659-38503659 - TCGA-AA-3663-01 COSM1450615 c.732C>T p.T244T Substitution - coding silent 7:38465484-38465484 - P56 COSM328950 c.291G>A p.M97I Substitution - Missense 7:38494442-38494442 - TCGA-BP-4801-01 COSM485304 c.1907C>T p.A636V Substitution - Missense 7:38389877-38389877 - DU-145 COSM1673119 c.504G>T p.K168N Substitution - Missense 7:38476862-38476862 - ESO-187 COSM1244904 c.183A>G p.R61R Substitution - coding silent 7:38503672-38503672 - 8066852 COSM3785096 c.257A>T p.E86V Substitution - Missense 7:38494476-38494476 - TCGA-D1-A167-01 COSM746963 c.859G>A p.A287T Substitution - Missense 7:38463004-38463004 - TCGA-33-4566-01 COSM746970 c.2028C>A p.Y676* Substitution - Nonsense 7:38384878-38384878 - TCGA-F1-6874-01 COSM3880888 c.1182G>A p.P394P Substitution - coding silent 7:38429842-38429842 - PCSI_0090_Pa_P COSM3381911 c.209T>C p.M70T Substitution - Missense 7:38494524-38494524 - CSCC-15-T COSM4463066 c.1274C>T p.A425V Substitution - Missense 7:38417949-38417949 - 13280 COSM5615837 c.999T>A p.S333R Substitution - Missense 7:38461301-38461301 - TCGA-06-0875 COSM238775 c.340G>A p.V114M Substitution - Missense 7:38491106-38491106 - 038T COSM1728761 c.274C>T p.R92W Substitution - Missense 7:38494459-38494459 - CSCC-16-T COSM4448658 c.1159-1G>A p.? Unknown 7:38429866-38429866 - TCGA-AP-A0LM-01 COSM1089472 c.1919A>G p.E640G Substitution - Missense 7:38389865-38389865 - 276T COSM1727498 c.988C>A p.P330T Substitution - Missense 7:38461312-38461312 - T684 COSM4661449 c.1059T>C p.D353D Substitution - coding silent 7:38436347-38436347 - LUAD_E01047 COSM173264 c.874C>T p.R292W Substitution - Missense 7:38462989-38462989 - TCGA-AY-6197-01 COSM1450609 c.1459delG p.A487fs*19 Deletion - Frameshift 7:38394154-38394154 - TCGA-EE-A3AG-06 COSM3638553 c.1548C>T p.T516T Substitution - coding silent 7:38394065-38394065 - YUGOE COSM1698589 c.473C>T p.S158F Substitution - Missense 7:38476893-38476893 - SNUH_G45_S1 COSM4004473 c.1487A>C p.K496T Substitution - Missense 7:38394126-38394126 - sysucc-1397T COSM5475050 c.756G>A p.S252S Substitution - coding silent 7:38463107-38463107 - PT23_2 COSM5903626 c.1260G>A p.M420I Substitution - Missense 7:38422433-38422433 - HCC2T COSM1622827 c.1875C>A p.Y625* Substitution - Nonsense 7:38391751-38391751 - TCGA-18-3421-01 COSM746969 c.1836A>T p.A612A Substitution - coding silent 7:38391790-38391790 - HT115 COSM187280 c.117C>T p.F39F Substitution - coding silent 7:38534964-38534964 - cSCCP4 COSM138613 c.1672G>A p.E558K Substitution - Missense 7:38391954-38391954 - TCGA-AH-6897-01 COSM3431584 c.1591G>A p.E531K Substitution - Missense 7:38394022-38394022 - TCGA-FW-A3R5-06 COSM3229273 c.400C>T p.R134C Substitution - Missense 7:38476966-38476966 - TCGA-B5-A11G-01 COSM1089476 c.1391A>G p.E464G Substitution - Missense 7:38417832-38417832 - TCGA-BR-8680-01 COSM1089484 c.118G>A p.E40K Substitution - Missense 7:38534963-38534963 - 8031867 COSM3394734 c.954G>T p.E318D Substitution - Missense 7:38461346-38461346 - TCGA-EI-6917-01 COSM187280 c.117C>T p.F39F Substitution - coding silent 7:38534964-38534964 - MDA-N COSM1673121 c.251T>G p.V84G Substitution - Missense 7:38494482-38494482 - 260211 COSM3725791 c.1408G>T p.G470* Substitution - Nonsense 7:38394205-38394205 - cSCCP4 COSM138614 c.1146G>A p.W382* Substitution - Nonsense 7:38432201-38432201 - TCGA-AA-3555-01 COSM292289 c.1481C>T p.A494V Substitution - Missense 7:38394132-38394132 - S02385 COSM5698926 c.184G>T p.G62* Substitution - Nonsense 7:38503671-38503671 - TCGA-A6-5661-01 COSM1450618 c.142C>T p.R48W Substitution - Missense 7:38534939-38534939 - CSCC-31-T COSM4559249 c.798G>A p.E266E Substitution - coding silent 7:38463065-38463065 - TCGA-EE-A3JD-06 COSM4395291 c.1622C>T p.P541L Substitution - Missense 7:38392004-38392004 - ITNET_0935_T COSM4963824 c.397-2A>G p.? Unknown 7:38476971-38476971 - 3206A7_009_T COSM5038995 c.1975G>T p.D659Y Substitution - Missense 7:38389809-38389809 - TCGA-39-5019-01 COSM746961 c.714C>G p.H238Q Substitution - Missense 7:38465502-38465502 - 1953_T COSM3950497 c.703G>C p.G235R Substitution - Missense 7:38465513-38465513 - YUPAER COSM5407451 c.1125C>T p.P375P Substitution - coding silent 7:38436281-38436281 - J83_T COSM3950493 c.783A>G p.P261P Substitution - coding silent 7:38463080-38463080 - LUAD_E00522 COSM353518 c.72C>A p.V24V Substitution - coding silent 7:38535009-38535009 - 01-P131 COSM4587384 c.852G>A p.A284A Substitution - coding silent 7:38463011-38463011 - CSCC-27-T COSM4514253 c.969C>T p.F323F Substitution - coding silent 7:38461331-38461331 - PD11348a COSM5163064 c.869G>A p.R290Q Substitution - Missense 7:38462994-38462994 - TCGA-D8-A1XW-01 COSM1488541 c.810C>A p.L270L Substitution - coding silent 7:38463053-38463053 - TCGA-EB-A431-01 COSM136596 c.385C>T p.P129S Substitution - Missense 7:38491061-38491061 - TCGA-EE-A29M-06 COSM3638564 c.963C>T p.I321I Substitution - coding silent 7:38461337-38461337 - TCGA-MI-A75H-01 COSM4918332 c.15G>T p.K5N Substitution - Missense 7:38631337-38631337 - TCGA-EE-A3AA-06 COSM3638553 c.1548C>T p.T516T Substitution - coding silent 7:38394065-38394065 - YURAY COSM138613 c.1672G>A p.E558K Substitution - Missense 7:38391954-38391954 - LUAD-CHTN-3090415 COSM357394 c.277G>T p.E93* Substitution - Nonsense 7:38494456-38494456 - CSCC-7-T COSM4553269 c.585G>A p.W195* Substitution - Nonsense 7:38475336-38475336 - PT37 COSM5919226 c.1609-5C>T p.? Unknown 7:38392022-38392022 - 3N39-VS-3T39 COSM3229273 c.400C>T p.R134C Substitution - Missense 7:38476966-38476966 - PT36 COSM3431584 c.1591G>A p.E531K Substitution - Missense 7:38394022-38394022 - LUAD-S01409 COSM346899 c.1071T>C p.D357D Substitution - coding silent 7:38436335-38436335 - 2492723 COSM5720906 c.1291C>T p.P431S Substitution - Missense 7:38417932-38417932 - TCGA-DY-A1DF-01 COSM1568997 c.412C>T p.R138C Substitution - Missense 7:38476954-38476954 - CSCC-56-T COSM4532134 c.185G>A p.G62E Substitution - Missense 7:38503670-38503670 - CSCC-27-T COSM4459362 c.1121C>T p.S374L Substitution - Missense 7:38436285-38436285 - YUGURT COSM5407447 c.1989C>T p.G663G Substitution - coding silent 7:38384917-38384917 - YUAKER COSM1698588 c.575C>T p.P192L Substitution - Missense 7:38475346-38475346 - PTC-7C COSM4004473 c.1487A>C p.K496T Substitution - Missense 7:38394126-38394126 - YUWAND COSM1698587 c.1463C>T p.P488L Substitution - Missense 7:38394150-38394150 - T2959 COSM4587384 c.852G>A p.A284A Substitution - coding silent 7:38463011-38463011 - ESCC_25 COSM5040095 c.1721C>T p.P574L Substitution - Missense 7:38391905-38391905 - TCGA-EE-A2MU-06 COSM3832745 c.2023C>T p.Q675* Substitution - Nonsense 7:38384883-38384883 - YUGEMA COSM3923587 c.2070C>T p.F690F Substitution - coding silent 7:38384836-38384836 - TCGA-18-3409-01 COSM746965 c.1130C>T p.S377F Substitution - Missense 7:38436276-38436276 - TCGA-DA-A1I1-06 COSM3638562 c.996C>T p.I332I Substitution - coding silent 7:38461304-38461304 - PCSI_0093_Pa_X COSM3381909 c.1981-2A>C p.? Unknown 7:38384927-38384927 - sysucc-1397T COSM5475048 c.1230A>G p.S410S Substitution - coding silent 7:38422463-38422463 - B106 COSM1450618 c.142C>T p.R48W Substitution - Missense 7:38534939-38534939 - HCC2 COSM1622827 c.1875C>A p.Y625* Substitution - Nonsense 7:38391751-38391751 - TCGA-G4-6299-01 COSM1450614 c.788C>T p.P263L Substitution - Missense 7:38463075-38463075 - BD129T COSM5500763 c.1510G>A p.G504R Substitution - Missense 7:38394103-38394103 - TCGA-AG-3731-01 COSM1568996 c.210G>T p.M70I Substitution - Missense 7:38494523-38494523 - TCGA-EK-A3GK-01 COSM4853098 c.1783C>T p.Q595* Substitution - Nonsense 7:38391843-38391843 - TCGA-AP-A0LM-01 COSM1089485 c.75C>T p.L25L Substitution - coding silent 7:38535006-38535006 - 19M COSM5578014 c.407C>T p.A136V Substitution - Missense 7:38476959-38476959 - TCGA-13-1498-01 COSM80860 c.1917T>C p.D639D Substitution - coding silent 7:38389867-38389867 - BN50T COSM1622831 c.1017+1G>A p.? Unknown 7:38461282-38461282 - RK081_C01 COSM3768363 c.81G>C p.K27N Substitution - Missense 7:38535000-38535000 - TCGA-06-5418 COSM138614 c.1146G>A p.W382* Substitution - Nonsense 7:38432201-38432201 - TCGA-G2-A2EJ-01 COSM1313069 c.1737C>T p.S579S Substitution - coding silent 7:38391889-38391889 - TCGA-D8-A1XZ-01 COSM1488539 c.1715C>T p.A572V Substitution - Missense 7:38391911-38391911 - TCGA-BR-8485-01 COSM3880882 c.1578A>G p.E526E Substitution - coding silent 7:38394035-38394035 - TCGA-AX-A05Z-01 COSM1089474 c.1535T>C p.I512T Substitution - Missense 7:38394078-38394078 - TCGA-BP-4983-01 COSM485306 c.336A>T p.K112N Substitution - Missense 7:38491110-38491110 - TCGA-39-5036-01 COSM746967 c.1399-1G>C p.? Unknown 7:38394215-38394215 - PC-9BRc1 COSM1685032 c.1355T>A p.L452H Substitution - Missense 7:38417868-38417868 - PCSI_0302_Pa_P_526 COSM4808420 c.59C>T p.A20V Substitution - Missense 7:38631293-38631293 - BN34T COSM1622828 c.1671C>T p.N557N Substitution - coding silent 7:38391955-38391955 - 404 COSM187262 c.714C>T p.H238H Substitution - coding silent 7:38465502-38465502 - HCC97 COSM1622829 c.1182+7A>G p.? Unknown 7:38429835-38429835 - 7313 COSM5615835 c.1736G>T p.S579I Substitution - Missense 7:38391890-38391890 - PCSI_0305_Pa_P_526 COSM136596 c.385C>T p.P129S Substitution - Missense 7:38491061-38491061 - AOCS-149-1-7 COSM4164325 c.988C>G p.P330A Substitution - Missense 7:38461312-38461312 - LUAD_E00522 COSM353517 c.272G>A p.G91E Substitution - Missense 7:38494461-38494461 - cSCCP4 COSM138615 c.818C>T p.P273L Substitution - Missense 7:38463045-38463045 - TCGA-EE-A17X-06 COSM3638540 c.2062G>A p.E688K Substitution - Missense 7:38384844-38384844 - TCGA-22-4599-01 COSM746964 c.1130C>G p.S377C Substitution - Missense 7:38436276-38436276 - B66-Tumor COSM4006705 c.1746G>T p.P582P Substitution - coding silent 7:38391880-38391880 - 587284 COSM1182709 c.547T>C p.F183L Substitution - Missense 7:38475374-38475374 - 134427 COSM324699 c.292G>C p.V98L Substitution - Missense 7:38494441-38494441 - TCGA-EE-A181-06 COSM3229229 c.1498C>T p.P500S Substitution - Missense 7:38394115-38394115 - 16T COSM3715804 c.458A>G p.E153G Substitution - Missense 7:38476908-38476908 - S02285 COSM5684982 c.341T>A p.V114E Substitution - Missense 7:38491105-38491105 - PD22355a COSM5771036 c.1312G>T p.E438* Substitution - Nonsense 7:38417911-38417911 - ICGC_MB101 COSM1450614 c.788C>T p.P263L Substitution - Missense 7:38463075-38463075 - TCGA-EE-A2GU-06 COSM3638555 c.1547C>T p.T516I Substitution - Missense 7:38394066-38394066 - LUAD-B00523 COSM332131 c.1482G>T p.A494A Substitution - coding silent 7:38394131-38394131 - 22T COSM106367 c.1057G>A p.D353N Substitution - Missense 7:38436349-38436349 - TCGA-CD-A4MG-01 COSM3880891 c.789G>A p.P263P Substitution - coding silent 7:38463074-38463074 - LS513 COSM3229265 c.571T>G p.L191V Substitution - Missense 7:38475350-38475350 - TCGA-EE-A29E-06 COSM3638571 c.239C>T p.S80L Substitution - Missense 7:38494494-38494494 - S00501 COSM309090 c.363G>C p.L121L Substitution - coding silent 7:38491083-38491083 - ACINAR15 COSM1450612 c.868C>T p.R290W Substitution - Missense 7:38462995-38462995 - CSCC-31-T COSM4511267 c.862C>T p.P288S Substitution - Missense 7:38463001-38463001 - B106-Tumor COSM1450618 c.142C>T p.R48W Substitution - Missense 7:38534939-38534939 - LUAD-S01357 COSM387751 c.1455G>C p.E485D Substitution - Missense 7:38394158-38394158 - TCGA-A5-A0GP-01 COSM1089484 c.118G>A p.E40K Substitution - Missense 7:38534963-38534963 - CHC1044T COSM4791057 c.2070C>A p.F690L Substitution - Missense 7:38384836-38384836 - TCGA-39-5027-01 COSM601141 c.1154G>T p.W385L Substitution - Missense 7:38432193-38432193 - PT33 COSM4555458 c.655G>A p.E219K Substitution - Missense 7:38466184-38466184 - TCGA-27-2519-01 COSM3229273 c.400C>T p.R134C Substitution - Missense 7:38476966-38476966 - TCGA-EE-A29L-06 COSM3638546 c.1692G>A p.E564E Substitution - coding silent 7:38391934-38391934 - CSCC-62-T COSM4529879 c.164G>A p.R55K Substitution - Missense 7:38503691-38503691 - TCGA-06-0875-01 COSM238775 c.340G>A p.V114M Substitution - Missense 7:38491106-38491106 - YURAY COSM5407449 c.1978C>T p.Q660* Substitution - Nonsense 7:38389806-38389806 - CSCC-15-T COSM4531299 c.1776G>A p.Q592Q Substitution - coding silent 7:38391850-38391850 - SNUH_G45_S1 COSM4004475 c.218C>T p.A73V Substitution - Missense 7:38494515-38494515 - DLBCL1020 COSM1580473 c.1483G>A p.E495K Substitution - Missense 7:38394130-38394130 - cSCCP6 COSM136596 c.385C>T p.P129S Substitution - Missense 7:38491061-38491061 - CSCC-32-T COSM4497518 c.498C>T p.I166I Substitution - coding silent 7:38476868-38476868 - sysucc-1512T COSM5450808 c.1181C>T p.P394L Substitution - Missense 7:38429843-38429843 - HN_00190 COSM127310 c.1527G>A p.E509E Substitution - coding silent 7:38394086-38394086 - HCC60T COSM1622831 c.1017+1G>A p.? Unknown 7:38461282-38461282 - TCGA-HU-A4H3-01 COSM3880884 c.1460C>T p.A487V Substitution - Missense 7:38394153-38394153 - YUROG COSM5407455 c.319G>A p.E107K Substitution - Missense 7:38491127-38491127 - 029T COSM1728326 c.1528G>C p.A510P Substitution - Missense 7:38394085-38394085 - LUAD-NYU1026 COSM368339 c.300G>T p.E100D Substitution - Missense 7:38494433-38494433 - TCGA-B5-A0JY-01 COSM1089481 c.565G>T p.E189* Substitution - Nonsense 7:38475356-38475356 - TCGA-D1-A17Q-01 COSM1089483 c.226A>C p.K76Q Substitution - Missense 7:38494507-38494507 - ME021T COSM225868 c.1723C>T p.P575S Substitution - Missense 7:38391903-38391903 - SS6003323 COSM1192081 c.406G>A p.A136T Substitution - Missense 7:38476960-38476960 - TCGA-EE-A181-06 COSM1089484 c.118G>A p.E40K Substitution - Missense 7:38534963-38534963 - 935T COSM4963824 c.397-2A>G p.? Unknown 7:38476971-38476971 - LP6005334-DNA_D03 COSM5953188 c.1276G>A p.E426K Substitution - Missense 7:38417947-38417947 - TCGA-AR-A24V-01 COSM1488540 c.1148A>T p.D383V Substitution - Missense 7:38432199-38432199 - CSCC-31-T COSM4528530 c.1543G>A p.E515K Substitution - Missense 7:38394070-38394070 - DN12042 COSM5163064 c.869G>A p.R290Q Substitution - Missense 7:38462994-38462994 - TCGA-CC-A7II-01 COSM4937635 c.1372G>T p.A458S Substitution - Missense 7:38417851-38417851 - TCGA-A6-6650-01 COSM3698385 c.1217C>A p.P406H Substitution - Missense 7:38422476-38422476 - TCGA-GN-A266-06 COSM3638566 c.910C>T p.P304S Substitution - Missense 7:38461390-38461390 - YUTUR COSM5407453 c.850G>T p.A284S Substitution - Missense 7:38463013-38463013 - Pat_45_B COSM5872675 c.1992G>A p.W664* Substitution - Nonsense 7:38384914-38384914 - TCGA-AZ-4315-01 COSM1450610 c.1412C>T p.A471V Substitution - Missense 7:38394201-38394201 - S00501 COSM309090 c.363G>C p.L121L Substitution - coding silent 7:38491083-38491083 - GB07 COSM1742754 c.1708G>A p.E570K Substitution - Missense 7:38391918-38391918 - 2492720 COSM5720906 c.1291C>T p.P431S Substitution - Missense 7:38417932-38417932 - 2318503 COSM4777437 c.1375G>A p.E459K Substitution - Missense 7:38417848-38417848 - TCGA-EE-A2MJ-06 COSM3638569 c.247G>A p.E83K Substitution - Missense 7:38494486-38494486 - TCGA-EE-A2GJ-06 COSM3638551 c.1608G>A p.Q536Q Substitution - coding silent 7:38394005-38394005 - TCGA-GV-A3QH-01 COSM1313071 c.205G>A p.G69S Substitution - Missense 7:38503650-38503650 - CSCC-10-T COSM4564830 c.1490_1491CC>TT p.A497V Substitution - Missense 7:38394122-38394123 - PT36 COSM5915630 c.1013C>T p.S338F Substitution - Missense 7:38461287-38461287 - DLBCL763 COSM1580474 c.662C>T p.A221V Substitution - Missense 7:38466177-38466177 - S02289 COSM5686247 c.214G>T p.E72* Substitution - Nonsense 7:38494519-38494519 - TCGA-33-4547-01 COSM746963 c.859G>A p.A287T Substitution - Missense 7:38463004-38463004 - PT47 COSM5930264 c.888+5G>A p.? Unknown 7:38462970-38462970 - TCGA-GV-A3QK-01 COSM3778426 c.1030G>A p.E344K Substitution - Missense 7:38436376-38436376 - TCGA-BR-8059-01 COSM3880889 c.1041A>T p.K347N Substitution - Missense 7:38436365-38436365 - TCGA-CD-5801-01 COSM3880900 c.336A>C p.K112N Substitution - Missense 7:38491110-38491110 - YUKAT COSM5407457 c.206G>A p.G69D Substitution - Missense 7:38494527-38494527 - P48 COSM328760 c.115T>A p.F39I Substitution - Missense 7:38534966-38534966 - CSCC-31-T COSM4519859 c.1030G>T p.E344* Substitution - Nonsense 7:38436376-38436376 - TCGA-19-1790-01 COSM3412022 c.413G>A p.R138H Substitution - Missense 7:38476953-38476953 - YUHEF COSM1698590 c.350C>T p.S117F Substitution - Missense 7:38491096-38491096 - HX29T COSM3663179 c.757G>T p.G253C Substitution - Missense 7:38463106-38463106 - HDC87 COSM4637179 c.499T>C p.S167P Substitution - Missense 7:38476867-38476867 - TCGA-AX-A0J0-01 COSM1089482 c.306T>G p.C102W Substitution - Missense 7:38491140-38491140 - TCGA-AM-5820-01 COSM3762657 c.263A>C p.D88A Substitution - Missense 7:38494470-38494470 - CSCC-38-T COSM4456920 c.1027C>T p.P343S Substitution - Missense 7:38436379-38436379 - 61 COSM5737904 c.1501G>A p.A501T Substitution - Missense 7:38394112-38394112 - ESCC_BICR_003T COSM5442736 c.766C>T p.R256C Substitution - Missense 7:38463097-38463097 - DLBCL733 COSM453020 c.2077C>T p.R693C Substitution - Missense 7:38384829-38384829 - ESCC_41 COSM5629609 c.457G>A p.E153K Substitution - Missense 7:38476909-38476909 - 9114_T COSM5040095 c.1721C>T p.P574L Substitution - Missense 7:38391905-38391905 - TCGA-46-3769-01 COSM746960 c.415A>T p.S139C Substitution - Missense 7:38476951-38476951 - TCGA-BR-6452-01 COSM3880891 c.789G>A p.P263P Substitution - coding silent 7:38463074-38463074 - LUAD-NYU315 COSM373701 c.1562A>T p.E521V Substitution - Missense 7:38394051-38394051 - TCGA-AP-A056-01 COSM1089470 c.2055C>A p.L685L Substitution - coding silent 7:38384851-38384851 - TCGA-G4-6586-01 COSM1450620 c.78A>G p.Q26Q Substitution - coding silent 7:38535003-38535003 - 3206A7_017_T COSM5043280 c.386C>A p.P129H Substitution - Missense 7:38491060-38491060 - TCGA-FW-A3R5-06 COSM3923587 c.2070C>T p.F690F Substitution - coding silent 7:38384836-38384836 - LUAD-S01409 COSM346900 c.322G>T p.D108Y Substitution - Missense 7:38491124-38491124 - RK085_C01 COSM3703221 c.1210A>G p.T404A Substitution - Missense 7:38426959-38426959 - SNUH_G45_S1 COSM4004471 c.1791G>A p.T597T Substitution - coding silent 7:38391835-38391835 - LUAD-YINHD COSM351611 c.1975G>C p.D659H Substitution - Missense 7:38389809-38389809 - HCC143T COSM1622832 c.262G>T p.D88Y Substitution - Missense 7:38494471-38494471 - TCGA-66-2791-01 COSM746966 c.1152A>G p.L384L Substitution - coding silent 7:38432195-38432195 - S02255 COSM5680924 c.562C>A p.Q188K Substitution - Missense 7:38475359-38475359 - T2269 COSM4661447 c.1270T>A p.L424M Substitution - Missense 7:38422423-38422423 - TCGA-66-2768-01 COSM746968 c.1759G>C p.E587Q Substitution - Missense 7:38391867-38391867 - TCGA-D1-A17D-01 COSM1089477 c.1195T>A p.S399T Substitution - Missense 7:38426974-38426974 - TCGA-A5-A0GP-01 COSM1089478 c.939G>T p.K313N Substitution - Missense 7:38461361-38461361 - HCC145T COSM5811415 c.97G>A p.E33K Substitution - Missense 7:38534984-38534984 - BD189T COSM5508352 c.206-2A>G p.? Unknown 7:38494529-38494529 - T28 COSM5345339 c.611A>T p.N204I Substitution - Missense 7:38466228-38466228 - PDA_071 COSM5001763 c.1417G>T p.A473S Substitution - Missense 7:38394196-38394196 - TCGA-AP-A0LF-01 COSM1089471 c.2032G>C p.D678H Substitution - Missense 7:38384874-38384874 - I2L-P10-Tumor-Organoid COSM187280 c.117C>T p.F39F Substitution - coding silent 7:38534964-38534964 - RK003_C COSM53413 c.1157C>T p.T386M Substitution - Missense 7:38432190-38432190 - PT52 COSM5939648 c.256G>A p.E86K Substitution - Missense 7:38494477-38494477 - BL42 COSM3727913 c.1379A>G p.E460G Substitution - Missense 7:38417844-38417844 - PCSI_0090_Pa_X COSM3381911 c.209T>C p.M70T Substitution - Missense 7:38494524-38494524 - S01297 COSM1549907 c.1713C>T p.D571D Substitution - coding silent 7:38391913-38391913 - LUAD-FH5PJ COSM394561 c.2035C>A p.L679I Substitution - Missense 7:38384871-38384871 - TCGA-EB-A431-01 COSM3638549 c.1650C>T p.N550N Substitution - coding silent 7:38391976-38391976 - TCGA-EK-A3GK-01 COSM4853946 c.991G>C p.E331Q Substitution - Missense 7:38461309-38461309 - TCGA-AX-A05Z-01 COSM187280 c.117C>T p.F39F Substitution - coding silent 7:38534964-38534964 - BN34 COSM1622828 c.1671C>T p.N557N Substitution - coding silent 7:38391955-38391955 - T3298 COSM1450617 c.172C>T p.R58* Substitution - Nonsense 7:38503683-38503683 - ESCC_BICR_008T COSM5428972 c.2062G>C p.E688Q Substitution - Missense 7:38384844-38384844 - TCGA-A6-2676-01 COSM291105 c.46C>T p.R16* Substitution - Nonsense 7:38631306-38631306 - TCGA-66-2759-01 COSM453021 c.1801C>A p.P601T Substitution - Missense 7:38391825-38391825 - TCGA-G4-6628-01 COSM1450613 c.819G>A p.P273P Substitution - coding silent 7:38463044-38463044 - S02244 COSM5678303 c.664G>T p.V222L Substitution - Missense 7:38466175-38466175 - LAU165 COSM231746 c.173G>A p.R58Q Substitution - Missense 7:38503682-38503682 - CSCC-17-T COSM4560592 c.84G>A p.L28L Substitution - coding silent 7:38534997-38534997 - TCGA-GC-A3OO-01 COSM3778424 c.1820A>G p.D607G Substitution - Missense 7:38391806-38391806 - sysucc-1397T COSM5475046 c.1231T>A p.L411I Substitution - Missense 7:38422462-38422462 - CSCC-49-T COSM4523239 c.1205G>A p.G402E Substitution - Missense 7:38426964-38426964 - OSCC-GB_00160111 COSM3715804 c.458A>G p.E153G Substitution - Missense 7:38476908-38476908 - HN_62739 COSM127311 c.1158G>T p.T386T Substitution - coding silent 7:38432189-38432189 - TCGA-EB-A431-01 COSM3638560 c.1187C>T p.S396F Substitution - Missense 7:38426982-38426982 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.592182 7p14-p13 600418 2425777|CGAP|BC034376|A/G|non-coding||2185|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.L630R c.1889T>G 7 38429496 CM A G IntronicSNV . c.1215+19T>C 7 38466535 NSCLC A G Synonymous p.D639D c.1917T>C 7 38429468 OV - ATGA IntronicInsertion . c.70-28121_70-28118dupTTCA 7 38602735 CM A T Missense p.S333R c.999T>A 7 38500901 NSCLC A T Missense p.S399T c.1195T>A 7 38466574 UCEC A T Missense p.V222E c.665T>A 7 38505774 STAD C A IntronicSNV . c.1017+3002G>T 7 38497881 CLL C A IntronicSNV . c.206-1857G>T 7 38535984 CLL C A IntronicSNV . c.69+32160G>T 7 38638723 CLL C A Missense p.A31S c.91G>T 7 38574590 HNSC C A Missense p.G126W c.376G>T 7 38530670 LUAD C A Missense p.G663V c.1988G>T 7 38424519 STAD C A Missense p.K313N c.939G>T 7 38500961 UCEC C A Missense p.K669N c.2007G>T 7 38424500 COREAD C A Missense p.S579I c.1736G>T 7 38431491 NSCLC C A Missense p.V666L c.1996G>T 7 38424511 LUAD C A Missense p.W382L c.1145G>T 7 38471802 LUAD C A Missense p.W385L c.1154G>T 7 38471793 LUAD C A Missense p.W385L c.1154G>T 7 38471793 LUSC C A Nonsense p.E265* c.793G>T 7 38502670 LUSC C A Synonymous p.T386T c.1158G>T 7 38471789 HNSC C G Missense p.D678H c.2032G>C 7 38424475 UCEC C G Missense p.E587Q c.1759G>C 7 38431468 LUSC C G Missense p.G684R c.2050G>C 7 38424457 LUAD C G Missense p.V98L c.292G>C 7 38534041 SCLC C G SpliceAcceptorSNV . c.1399-1G>C 7 38433815 LUSC C G SpliceAcceptorSNV . c.301-1G>C 7 38530746 HNSC C G Synonymous p.L121L c.363G>C 7 38530683 SCLC C G Synonymous p.V114V c.342G>C 7 38530704 HNSC C - IntronicDeletion . c.1158+1delG 7 38471788 HNSC C T IntronicSNV . c.206-934G>A 7 38535061 CLL C T Missense p.A287T c.859G>A 7 38502604 LUSC C T Missense p.A476T c.1426G>A 7 38433787 UCEC C T Missense p.A66T c.196G>A 7 38543259 CM C T Missense p.D451N c.1351G>A 7 38457472 CM C T Missense p.E325K c.973G>A 7 38500927 BLCA C T Missense p.E40K c.118G>A 7 38574563 CM C T Missense p.E40K c.118G>A 7 38574563 UCEC C T Missense p.E558K c.1672G>A 7 38431555 CM C T Missense p.E688K c.2062G>A 7 38424445 CM C T Missense p.E83K c.247G>A 7 38534086 CM C T Missense p.G513R c.1537G>A 7 38433676 CM C T Missense p.G519D c.1556G>A 7 38433657 BRCA C T Missense p.G69S c.205G>A 7 38543250 BLCA C T Missense p.R138H c.413G>A 7 38516553 GBM C T Missense p.V114M c.340G>A 7 38530706 GBM C T Nonsense p.W382* c.1146G>A 7 38471801 GBM C T SpliceAcceptorSNV . c.591-1G>A 7 38505849 OV C T Synonymous p.E509E c.1527G>A 7 38433686 HNSC C T Synonymous p.E564E c.1692G>A 7 38431535 CM C T Synonymous p.P394P c.1182G>A 7 38469442 STAD C T Synonymous p.Q536Q c.1608G>A 7 38433605 CM C T Synonymous p.R298R c.894G>A 7 38501006 CM G A 3-UTRSNV . c.2085+53C>T 7 38424369 CM G A IntronicSNV . c.205+3612C>T 7 38539638 CLL G A Missense p.A483V c.1448C>T 7 38433765 HNSC G A Missense p.A563V c.1688C>T 7 38431539 RCCC G A Missense p.A572V c.1715C>T 7 38431512 BRCA G A Missense p.A636V c.1907C>T 7 38429478 RCCC G A Missense p.L674F c.2020C>T 7 38424487 BRCA G A Missense p.P249S c.745C>T 7 38505071 OV G A Missense p.P263L c.788C>T 7 38502675 MB G A Missense p.P500S c.1498C>T 7 38433715 CM G A Missense p.P535L c.1604C>T 7 38433609 CM G A Missense p.P541L c.1622C>T 7 38431605 CM G A Missense p.P575S c.1723C>T 7 38431504 CM G A Missense p.R134C c.400C>T 7 38516566 GBM G A Missense p.R693C c.2077C>T 7 38424430 BRCA G A Missense p.S80L c.239C>T 7 38534094 STAD G A Missense p.T386M c.1157C>T 7 38471790 HC G A Missense p.T516I c.1547C>T 7 38433666 CM G A Nonsense p.Q675* c.2023C>T 7 38424484 CM G A Synonymous p.D571D c.1713C>T 7 38431514 HNSC G A Synonymous p.F46F c.138C>T 7 38574543 CM G A Synonymous p.I321I c.963C>T 7 38500937 CM G A Synonymous p.I332I c.996C>T 7 38500904 CM G A Synonymous p.S579S c.1737C>T 7 38431490 BLCA G A Synonymous p.T516T c.1548C>T 7 38433665 CM G C Missense p.A239G c.716C>G 7 38505100 HNSC G C Missense p.H238Q c.714C>G 7 38505102 LUSC G C Missense p.Q127E c.379C>G 7 38530667 LUAD G C Missense p.S377C c.1130C>G 7 38475876 LUSC G C Missense p.T456S c.1367C>G 7 38457456 LUAD G - Frameshift p.A287Hfs*48 c.858delC 7 38502605 LUAD G T Missense p.L125M c.373C>A 7 38530673 HNSC G T Missense p.P601T c.1801C>A 7 38431426 BRCA G T Missense p.P601T c.1801C>A 7 38431426 LUSC G T Missense p.Q237K c.709C>A 7 38505107 LUAD G T Missense p.Q317K c.949C>A 7 38500951 LUAD G T Synonymous p.L270L c.810C>A 7 38502653 BRCA G T Synonymous p.L530L c.1590C>A 7 38433623 HNSC G T Synonymous p.R48R c.142C>A 7 38574539 LUAD G T Synonymous p.R692R c.2074C>A 7 38424433 CM T A IntronicSNV . c.206-809A>T 7 38534936 CLL T A Missense p.D383V c.1148A>T 7 38471799 BRCA T A Missense p.K112N c.336A>T 7 38530710 RCCC T A Missense p.Q418L c.1253A>T 7 38462040 LUAD T A Missense p.Q588L c.1763A>T 7 38431464 HNSC T A Missense p.S139C c.415A>T 7 38516551 LUSC T A Synonymous p.A612A c.1836A>T 7 38431391 LUSC TC - IntronicDeletion . c.69+39993_69+39994delGA 7 38630889 CLL T C IntronicSNV . c.1272+220A>G 7 38461801 PIA T C Missense p.D115G c.344A>G 7 38530702 HNSC T C Missense p.E464G c.1391A>G 7 38457432 UCEC T C Missense p.H279R c.836A>G 7 38502627 CLL T C Missense p.K566R c.1697A>G 7 38431530 CM T C Synonymous p.L187L c.561A>G 7 38514960 LUAD T C Synonymous p.L384L c.1152A>G 7 38471795 LUSC T C Synonymous p.R61R c.183A>G 7 38543272 ESCA T C Synonymous p.T533T c.1599A>G 7 38433614 COREAD T G Missense p.K112N c.336A>C 7 38530710 STAD - T IntronicInsertion . c.1017+6201dupA 7 38494682 CM