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 13 111870037 111870037 + Silent SNP T T C TCGA-OR-A5L9-01A-11D-A29I-10 TCGA-OR-A5L9-10B-01D-A29L-10 g.chr13:111870037T>C c.543T>C c.(541-543)gaT>gaC p.D181D ACC 13 111870037 111870037 + Silent SNP T T C TCGA-PK-A5H8-01A-11D-A29I-10 TCGA-PK-A5H8-10A-01D-A29L-10 g.chr13:111870037T>C c.543T>C c.(541-543)gaT>gaC p.D181D ACC 13 111938538 111938538 + Silent SNP G G A TCGA-OR-A5J5-01A-11D-A29I-10 TCGA-OR-A5J5-10A-01D-A29L-10 g.chr13:111938538G>A c.2058G>A c.(2056-2058)aaG>aaA p.K686K BLCA 13 111870217 111870217 + Silent SNP C C G TCGA-XF-A8HI-01A-11D-A38G-08 TCGA-XF-A8HI-10A-01D-A38J-08 g.chr13:111870217C>G c.723C>G c.(721-723)gtC>gtG p.V241V BLCA 13 111926179 111926179 + Missense_Mutation SNP C C A TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr13:111926179C>A c.1155C>A c.(1153-1155)ttC>ttA p.F385L BLCA 13 111929934 111929934 + Splice_Site SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 g.chr13:111929934G>A c.1483G>A c.(1483-1485)Gaa>Aaa p.E495K BLCA 13 111929950 111929950 + Missense_Mutation SNP A A C TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 g.chr13:111929950A>C c.1499A>C c.(1498-1500)tAt>tCt p.Y500S BLCA 13 111932947 111932947 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 g.chr13:111932947G>C c.1711G>C c.(1711-1713)Gag>Cag p.E571Q BLCA 13 111932989 111932989 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 g.chr13:111932989C>T c.1753C>T c.(1753-1755)Ccc>Tcc p.P585S BLCA 13 111933019 111933019 + Missense_Mutation SNP C C A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr13:111933019C>A c.1783C>A c.(1783-1785)Cat>Aat p.H595N BLCA 13 111944588 111944588 + Missense_Mutation SNP C C G TCGA-K4-A6FZ-01A-11D-A31L-08 TCGA-K4-A6FZ-10A-01D-A31J-08 g.chr13:111944588C>G c.2321C>G c.(2320-2322)tCt>tGt p.S774C BLCA 13 111953139 111953139 + Missense_Mutation SNP G G C TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr13:111953139G>C c.1885G>C c.(1885-1887)Gag>Cag p.E629Q BLCA 13 111955378 111955378 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 g.chr13:111955378G>C c.2036G>C c.(2035-2037)aGa>aCa p.R679T BRCA 13 111806290 111806290 + Silent SNP C C T TCGA-D8-A1JJ-01A-31D-A14K-09 TCGA-D8-A1JJ-10A-01D-A14K-09 g.chr13:111806290C>T c.204C>T c.(202-204)agC>agT p.S68S BRCA 13 111919984 111919984 + Missense_Mutation SNP A A C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr13:111919984A>C c.1103A>C c.(1102-1104)cAc>cCc p.H368P BRCA 13 111927099 111927099 + Missense_Mutation SNP G G A TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 g.chr13:111927099G>A c.1297G>A c.(1297-1299)Gat>Aat p.D433N BRCA 13 111927123 111927123 + Missense_Mutation SNP T T C TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr13:111927123T>C c.1321T>C c.(1321-1323)Ttc>Ctc p.F441L BRCA 13 111927898 111927898 + Missense_Mutation SNP G G A TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 g.chr13:111927898G>A c.1355G>A c.(1354-1356)cGg>cAg p.R452Q BRCA 13 111930018 111930018 + Nonsense_Mutation SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 g.chr13:111930018C>T c.1567C>T c.(1567-1569)Cag>Tag p.Q523* BRCA 13 111938540 111938540 + Missense_Mutation SNP G G T TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 g.chr13:111938540G>T c.2060G>T c.(2059-2061)cGc>cTc p.R687L BRCA 13 111953173 111953173 + Missense_Mutation SNP G G T TCGA-E2-A14U-01A-11D-A228-09 TCGA-E2-A14U-10A-01D-A22A-09 g.chr13:111953173G>T c.1919G>T c.(1918-1920)gGt>gTt p.G640V BRCA 13 111955406 111955406 + Silent SNP G G A TCGA-C8-A274-01A-11D-A16D-09 TCGA-C8-A274-10A-01D-A16D-09 g.chr13:111955406G>A c.2064G>A c.(2062-2064)gtG>gtA p.V688V BRCA 13 111955427 111955427 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr13:111955427G>A c.2085G>A c.(2083-2085)atG>atA p.M695I CESC 13 111857660 111857660 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 g.chr13:111857660C>G c.340C>G c.(340-342)Cag>Gag p.Q114E CESC 13 111870159 111870159 + Nonsense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 g.chr13:111870159G>A c.665G>A c.(664-666)tGg>tAg p.W222* CESC 13 111927125 111927125 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr13:111927125C>T c.1323C>T c.(1321-1323)ttC>ttT p.F441F CESC 13 111935688 111935688 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr13:111935688C>T c.1991C>T c.(1990-1992)tCa>tTa p.S664L CHOL 13 111953840 111953840 + Silent SNP C C A TCGA-4G-AAZO-01A-12D-A417-09 TCGA-4G-AAZO-11A-11D-A41A-09 g.chr13:111953840C>A c.1956C>A c.(1954-1956)acC>acA p.T652T COAD 13 111767934 111767934 + Frame_Shift_Del DEL A A - TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr13:111767934delA c.61delA c.(61-63)aaafs p.K22fs COAD 13 111811399 111811399 + Missense_Mutation SNP C C A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr13:111811399C>A c.278C>A c.(277-279)cCt>cAt p.P93H COAD 13 111862239 111862239 + Missense_Mutation SNP T T C TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr13:111862239T>C c.421T>C c.(421-423)Tcc>Ccc p.S141P COAD 13 111862239 111862239 + Missense_Mutation SNP T T C TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr13:111862239T>C c.421T>C c.(421-423)Tcc>Ccc p.S141P COAD 13 111862240 111862240 + Missense_Mutation SNP C C A TCGA-DM-A1DB-01A-11D-A152-10 TCGA-DM-A1DB-10A-01D-A152-10 g.chr13:111862240C>A c.422C>A c.(421-423)tCc>tAc p.S141Y COAD 13 111870123 111870123 + Missense_Mutation SNP T T C TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr13:111870123T>C c.629T>C c.(628-630)gTc>gCc p.V210A COAD 13 111870179 111870179 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr13:111870179C>T c.685C>T c.(685-687)Cgg>Tgg p.R229W COAD 13 111870180 111870180 + Missense_Mutation SNP G G T TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr13:111870180G>T c.686G>T c.(685-687)cGg>cTg p.R229L COAD 13 111896291 111896291 + Missense_Mutation SNP C C T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr13:111896291C>T c.895C>T c.(895-897)Cgg>Tgg p.R299W COAD 13 111896631 111896631 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr13:111896631G>A c.1003G>A c.(1003-1005)Gaa>Aaa p.E335K COAD 13 111919927 111919927 + Missense_Mutation SNP G G C TCGA-AY-4070-01A-01W-1073-09 TCGA-AY-4070-10A-01W-1073-09 g.chr13:111919927G>C c.1046G>C c.(1045-1047)tGc>tCc p.C349S COAD 13 111926250 111926250 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr13:111926250G>A c.1226G>A c.(1225-1227)cGc>cAc p.R409H COAD 13 111932645 111932645 + Silent SNP A A G TCGA-CM-6168-01A-11D-1650-10 TCGA-CM-6168-10A-01D-1650-10 g.chr13:111932645A>G c.1596A>G c.(1594-1596)acA>acG p.T532T COAD 13 111932655 111932655 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr13:111932655C>T c.1606C>T c.(1606-1608)Ctt>Ttt p.L536F COAD 13 111932975 111932975 + Missense_Mutation SNP C C T TCGA-DM-A0XD-01A-12D-A152-10 TCGA-DM-A0XD-10A-01D-A152-10 g.chr13:111932975C>T c.1739C>T c.(1738-1740)aCg>aTg p.T580M COAD 13 111935537 111935537 + Missense_Mutation SNP G G A TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr13:111935537G>A c.1840G>A c.(1840-1842)Gcg>Acg p.A614T COAD 13 111935663 111935663 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr13:111935663C>T c.1966C>T c.(1966-1968)Cgg>Tgg p.R656W COAD 13 111938520 111938520 + Missense_Mutation SNP G G A TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr13:111938520G>A c.2040G>A c.(2038-2040)atG>atA p.M680I COAD 13 111938574 111938574 + Silent SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr13:111938574C>T c.2094C>T c.(2092-2094)ttC>ttT p.F698F COAD 13 111944540 111944540 + Missense_Mutation SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr13:111944540G>A c.2273G>A c.(2272-2274)cGt>cAt p.R758H COAD 13 111944571 111944571 + Silent SNP A A G TCGA-DM-A1D7-01A-11D-A152-10 TCGA-DM-A1D7-10A-01D-A152-10 g.chr13:111944571A>G c.2304A>G c.(2302-2304)tcA>tcG p.S768S COAD 13 111944621 111944621 + Missense_Mutation SNP A A G TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr13:111944621A>G c.2354A>G c.(2353-2355)tAc>tGc p.Y785C COAD 13 111953184 111953184 + Missense_Mutation SNP A A T TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr13:111953184A>T c.1930A>T c.(1930-1932)Ata>Tta p.I644L COAD 13 111955381 111955381 + Missense_Mutation SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr13:111955381C>T c.2039C>T c.(2038-2040)gCc>gTc p.A680V COAD 13 111955383 111955383 + Missense_Mutation SNP C C A TCGA-AA-3496-01A-21D-1835-10 TCGA-AA-3496-11A-01D-1835-10 g.chr13:111955383C>A c.2041C>A c.(2041-2043)Cgc>Agc p.R681S COADREAD 13 111767934 111767934 + Frame_Shift_Del DEL A A - TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr13:111767934delA c.61delA c.(61-63)aaafs p.K22fs COADREAD 13 111811399 111811399 + Missense_Mutation SNP C C A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr13:111811399C>A c.278C>A c.(277-279)cCt>cAt p.P93H COADREAD 13 111862239 111862239 + Missense_Mutation SNP T T C TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr13:111862239T>C c.421T>C c.(421-423)Tcc>Ccc p.S141P COADREAD 13 111862239 111862239 + Missense_Mutation SNP T T C TCGA-DY-A1DF-01A-11D-A152-10 TCGA-DY-A1DF-10A-01D-A152-10 g.chr13:111862239T>C c.421T>C c.(421-423)Tcc>Ccc p.S141P COADREAD 13 111862239 111862239 + Missense_Mutation SNP T T C TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr13:111862239T>C c.421T>C c.(421-423)Tcc>Ccc p.S141P COADREAD 13 111862240 111862240 + Missense_Mutation SNP C C A TCGA-DM-A1DB-01A-11D-A152-10 TCGA-DM-A1DB-10A-01D-A152-10 g.chr13:111862240C>A c.422C>A c.(421-423)tCc>tAc p.S141Y COADREAD 13 111870123 111870123 + Missense_Mutation SNP T T C TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr13:111870123T>C c.629T>C c.(628-630)gTc>gCc p.V210A COADREAD 13 111870179 111870179 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr13:111870179C>T c.685C>T c.(685-687)Cgg>Tgg p.R229W COADREAD 13 111870180 111870180 + Missense_Mutation SNP G G T TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr13:111870180G>T c.686G>T c.(685-687)cGg>cTg p.R229L COADREAD 13 111896291 111896291 + Missense_Mutation SNP C C T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr13:111896291C>T c.895C>T c.(895-897)Cgg>Tgg p.R299W COADREAD 13 111896589 111896589 + Missense_Mutation SNP G G A TCGA-AF-6672-01A-11D-1826-10 TCGA-AF-6672-10A-01D-1826-10 g.chr13:111896589G>A c.961G>A c.(961-963)Gaa>Aaa p.E321K COADREAD 13 111896631 111896631 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr13:111896631G>A c.1003G>A c.(1003-1005)Gaa>Aaa p.E335K COADREAD 13 111919927 111919927 + Missense_Mutation SNP G G C TCGA-AY-4070-01A-01W-1073-09 TCGA-AY-4070-10A-01W-1073-09 g.chr13:111919927G>C c.1046G>C c.(1045-1047)tGc>tCc p.C349S COADREAD 13 111926250 111926250 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr13:111926250G>A c.1226G>A c.(1225-1227)cGc>cAc p.R409H COADREAD 13 111926252 111926252 + Silent SNP C C T TCGA-AG-3898-01A-01W-1073-09 TCGA-AG-3898-10A-01W-1073-09 g.chr13:111926252C>T c.1228C>T c.(1228-1230)Ctg>Ttg p.L410L COADREAD 13 111932645 111932645 + Silent SNP A A G TCGA-CM-6168-01A-11D-1650-10 TCGA-CM-6168-10A-01D-1650-10 g.chr13:111932645A>G c.1596A>G c.(1594-1596)acA>acG p.T532T COADREAD 13 111932655 111932655 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr13:111932655C>T c.1606C>T c.(1606-1608)Ctt>Ttt p.L536F COADREAD 13 111932975 111932975 + Missense_Mutation SNP C C T TCGA-DM-A0XD-01A-12D-A152-10 TCGA-DM-A0XD-10A-01D-A152-10 g.chr13:111932975C>T c.1739C>T c.(1738-1740)aCg>aTg p.T580M COADREAD 13 111935537 111935537 + Missense_Mutation SNP G G A TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr13:111935537G>A c.1840G>A c.(1840-1842)Gcg>Acg p.A614T COADREAD 13 111935663 111935663 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr13:111935663C>T c.1966C>T c.(1966-1968)Cgg>Tgg p.R656W COADREAD 13 111938520 111938520 + Missense_Mutation SNP G G A TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr13:111938520G>A c.2040G>A c.(2038-2040)atG>atA p.M680I COADREAD 13 111938574 111938574 + Silent SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr13:111938574C>T c.2094C>T c.(2092-2094)ttC>ttT p.F698F COADREAD 13 111944540 111944540 + Missense_Mutation SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr13:111944540G>A c.2273G>A c.(2272-2274)cGt>cAt p.R758H COADREAD 13 111944571 111944571 + Silent SNP A A G TCGA-DM-A1D7-01A-11D-A152-10 TCGA-DM-A1D7-10A-01D-A152-10 g.chr13:111944571A>G c.2304A>G c.(2302-2304)tcA>tcG p.S768S COADREAD 13 111944621 111944621 + Missense_Mutation SNP A A G TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr13:111944621A>G c.2354A>G c.(2353-2355)tAc>tGc p.Y785C COADREAD 13 111953184 111953184 + Missense_Mutation SNP A A T TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr13:111953184A>T c.1930A>T c.(1930-1932)Ata>Tta p.I644L COADREAD 13 111955381 111955381 + Missense_Mutation SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr13:111955381C>T c.2039C>T c.(2038-2040)gCc>gTc p.A680V COADREAD 13 111955383 111955383 + Missense_Mutation SNP C C A TCGA-AA-3496-01A-21D-1835-10 TCGA-AA-3496-11A-01D-1835-10 g.chr13:111955383C>A c.2041C>A c.(2041-2043)Cgc>Agc p.R681S ESCA 13 111862249 111862249 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 g.chr13:111862249C>T c.431C>T c.(430-432)gCc>gTc p.A144V ESCA 13 111927998 111927998 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 g.chr13:111927998G>T c.1455G>T c.(1453-1455)caG>caT p.Q485H ESCA 13 111935538 111935538 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 g.chr13:111935538C>T c.1841C>T c.(1840-1842)gCg>gTg p.A614V GBM 13 111870210 111870210 + Missense_Mutation SNP G G A TCGA-06-5858-01A-01D-1696-08 TCGA-06-5858-10A-01D-1696-08 g.chr13:111870210G>A c.716G>A c.(715-717)cGc>cAc p.R239H GBM 13 111896312 111896315 + Splice_Site DEL AAGT AAGT - TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 g.chr13:111896312_111896315delAAGT c.916_917delAAGT c.(916-918)aag>g p.K306fs GBMLGG 13 111870210 111870210 + Missense_Mutation SNP G G A TCGA-06-5858-01A-01D-1696-08 TCGA-06-5858-10A-01D-1696-08 g.chr13:111870210G>A c.716G>A c.(715-717)cGc>cAc p.R239H GBMLGG 13 111896312 111896315 + Splice_Site DEL AAGT AAGT - TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 g.chr13:111896312_111896315delAAGT c.916_917delAAGT c.(916-918)aag>g p.K306fs GBMLGG 13 111932994 111932994 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:111932994C>A c.1758C>A c.(1756-1758)acC>acA p.T586T HNSC 13 111870185 111870185 + Missense_Mutation SNP G G A TCGA-TN-A7HL-01A-11D-A34J-08 TCGA-TN-A7HL-10A-01D-A34M-08 g.chr13:111870185G>A c.691G>A c.(691-693)Ggc>Agc p.G231S HNSC 13 111919901 111919901 + Silent SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 g.chr13:111919901C>G c.1020C>G c.(1018-1020)ccC>ccG p.P340P HNSC 13 111919973 111919973 + Silent SNP T T C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 g.chr13:111919973T>C c.1092T>C c.(1090-1092)taT>taC p.Y364Y HNSC 13 111927983 111927983 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr13:111927983C>T c.1440C>T c.(1438-1440)gtC>gtT p.V480V HNSC 13 111953845 111953845 + Missense_Mutation SNP A A G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 g.chr13:111953845A>G c.1961A>G c.(1960-1962)tAt>tGt p.Y654C KIPAN 13 111885553 111885553 + Splice_Site SNP G G A TCGA-BQ-5885-01A-11D-1589-08 TCGA-BQ-5885-11A-01D-1589-08 g.chr13:111885553G>A c.735G>A c.(733-735)gaG>gaA p.E245E KIPAN 13 111926181 111926181 + Missense_Mutation SNP T T G TCGA-SX-A7SQ-01A-12D-A35Z-10 TCGA-SX-A7SQ-10A-01D-A35Z-10 g.chr13:111926181T>G c.1157T>G c.(1156-1158)aTg>aGg p.M386R KIPAN 13 111932908 111932908 + Missense_Mutation SNP G G T TCGA-B0-5812-01A-11D-1669-08 TCGA-B0-5812-11A-01D-1669-08 g.chr13:111932908G>T c.1672G>T c.(1672-1674)Gtg>Ttg p.V558L KIPAN 13 111935618 111935618 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr13:111935618C>A c.1921C>A c.(1921-1923)Ctg>Atg p.L641M KIPAN 13 111953859 111953859 + Missense_Mutation SNP G G A TCGA-CW-5585-01A-01D-1534-10 TCGA-CW-5585-11A-01D-1535-10 g.chr13:111953859G>A c.1975G>A c.(1975-1977)Gaa>Aaa p.E659K KIRC 13 111932908 111932908 + Missense_Mutation SNP G G T TCGA-B0-5812-01A-11D-1669-08 TCGA-B0-5812-11A-01D-1669-08 g.chr13:111932908G>T c.1672G>T c.(1672-1674)Gtg>Ttg p.V558L KIRC 13 111935618 111935618 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr13:111935618C>A c.1921C>A c.(1921-1923)Ctg>Atg p.L641M KIRC 13 111953859 111953859 + Missense_Mutation SNP G G A TCGA-CW-5585-01A-01D-1534-10 TCGA-CW-5585-11A-01D-1535-10 g.chr13:111953859G>A c.1975G>A c.(1975-1977)Gaa>Aaa p.E659K KIRP 13 111885553 111885553 + Splice_Site SNP G G A TCGA-BQ-5885-01A-11D-1589-08 TCGA-BQ-5885-11A-01D-1589-08 g.chr13:111885553G>A c.735G>A c.(733-735)gaG>gaA p.E245E KIRP 13 111926181 111926181 + Missense_Mutation SNP T T G TCGA-SX-A7SQ-01A-12D-A35Z-10 TCGA-SX-A7SQ-10A-01D-A35Z-10 g.chr13:111926181T>G c.1157T>G c.(1156-1158)aTg>aGg p.M386R LGG 13 111932994 111932994 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:111932994C>A c.1758C>A c.(1756-1758)acC>acA p.T586T LIHC 13 111767970 111767970 + Missense_Mutation SNP G G A TCGA-G3-AAV5-01A-11D-A36X-10 TCGA-G3-AAV5-10A-01D-A370-10 g.chr13:111767970G>A c.97G>A c.(97-99)Gcg>Acg p.A33T LIHC 13 111919988 111919988 + Silent SNP T T C TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr13:111919988T>C c.1107T>C c.(1105-1107)ccT>ccC p.P369P LIHC 13 111926288 111926288 + Nonsense_Mutation SNP A A T TCGA-DD-AACK-01A-11D-A40R-10 TCGA-DD-AACK-10A-01D-A40U-10 g.chr13:111926288A>T c.1264A>T c.(1264-1266)Aga>Tga p.R422* LIHC 13 111927941 111927941 + Silent SNP C C A TCGA-DD-A3A7-01A-11D-A22F-10 TCGA-DD-A3A7-11A-11D-A22F-10 g.chr13:111927941C>A c.1398C>A c.(1396-1398)atC>atA p.I466I LIHC 13 111932983 111932983 + Missense_Mutation SNP G G A TCGA-BW-A5NQ-01A-11D-A27I-10 TCGA-BW-A5NQ-10A-01D-A27I-10 g.chr13:111932983G>A c.1747G>A c.(1747-1749)Gga>Aga p.G583R LIHC 13 111938504 111938504 + Missense_Mutation SNP A A G TCGA-CC-A7IH-01A-11D-A33K-10 TCGA-CC-A7IH-10A-01D-A33K-10 g.chr13:111938504A>G c.2024A>G c.(2023-2025)aAg>aGg p.K675R LUAD 13 111767915 111767915 + Frame_Shift_Del DEL G G - TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr13:111767915delG c.42delG c.(40-42)ctgfs p.L14fs LUAD 13 111767996 111767996 + Silent SNP C C G TCGA-55-6968-01A-11D-1945-08 TCGA-55-6968-11A-01D-1945-08 g.chr13:111767996C>G c.123C>G c.(121-123)ctC>ctG p.L41L LUAD 13 111862229 111862229 + Silent SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 g.chr13:111862229G>T c.411G>T c.(409-411)ctG>ctT p.L137L LUAD 13 111896544 111896544 + Splice_Site SNP A A C TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr13:111896544A>C c.e9-1 LUAD 13 111896599 111896599 + Missense_Mutation SNP C C T TCGA-05-5428-01A-01D-1625-08 TCGA-05-5428-10A-01D-1625-08 g.chr13:111896599C>T c.971C>T c.(970-972)tCt>tTt p.S324F LUAD 13 111927998 111927998 + Silent SNP G G A TCGA-64-5779-01A-01D-1625-08 TCGA-64-5779-10A-01D-1625-08 g.chr13:111927998G>A c.1455G>A c.(1453-1455)caG>caA p.Q485Q LUAD 13 111944652 111944652 + Frame_Shift_Del DEL T T - TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr13:111944652delT c.2385delT c.(2383-2385)tgtfs p.C796fs LUSC 13 111926211 111926211 + Missense_Mutation SNP T T C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 g.chr13:111926211T>C c.1187T>C c.(1186-1188)aTt>aCt p.I396T LUSC 13 111932896 111932896 + Nonsense_Mutation SNP G G T TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr13:111932896G>T c.1660G>T c.(1660-1662)Gag>Tag p.E554* LUSC 13 111944527 111944527 + Missense_Mutation SNP G G T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 g.chr13:111944527G>T c.2260G>T c.(2260-2262)Gac>Tac p.D754Y OV 13 111935537 111935537 + Missense_Mutation SNP G G A TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 g.chr13:111935537G>A c.1840G>A c.(1840-1842)Gcg>Acg p.A614T OV 13 111938519 111938519 + Missense_Mutation SNP T T G TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 g.chr13:111938519T>G c.2039T>G c.(2038-2040)aTg>aGg p.M680R OV 13 111953827 111953827 + Missense_Mutation SNP G G T TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 g.chr13:111953827G>T c.1943G>T c.(1942-1944)aGt>aTt p.S648I PAAD 13 111862267 111862267 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 g.chr13:111862267G>A c.449G>A c.(448-450)cGc>cAc p.R150H PAAD 13 111862267 111862267 + Missense_Mutation SNP G G A TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 g.chr13:111862267G>A c.449G>A c.(448-450)cGc>cAc p.R150H PAAD 13 111862267 111862267 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 g.chr13:111862267G>A c.449G>A c.(448-450)cGc>cAc p.R150H PAAD 13 111862267 111862267 + Missense_Mutation SNP G G A TCGA-LB-A7SX-01A-11D-A33T-08 TCGA-LB-A7SX-10A-01D-A33W-08 g.chr13:111862267G>A c.449G>A c.(448-450)cGc>cAc p.R150H PAAD 13 111862267 111862267 + Missense_Mutation SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 g.chr13:111862267G>A c.449G>A c.(448-450)cGc>cAc p.R150H PAAD 13 111896285 111896285 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr13:111896285T>C c.889T>C c.(889-891)Tac>Cac p.Y297H PAAD 13 111953130 111953130 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr13:111953130C>T c.1876C>T c.(1876-1878)Cca>Tca p.P626S PRAD 13 111935589 111935589 + Frame_Shift_Del DEL C C - TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 g.chr13:111935589delC c.1892delC c.(1891-1893)accfs p.T631fs READ 13 111862239 111862239 + Missense_Mutation SNP T T C TCGA-DY-A1DF-01A-11D-A152-10 TCGA-DY-A1DF-10A-01D-A152-10 g.chr13:111862239T>C c.421T>C c.(421-423)Tcc>Ccc p.S141P READ 13 111896589 111896589 + Missense_Mutation SNP G G A TCGA-AF-6672-01A-11D-1826-10 TCGA-AF-6672-10A-01D-1826-10 g.chr13:111896589G>A c.961G>A c.(961-963)Gaa>Aaa p.E321K READ 13 111926252 111926252 + Silent SNP C C T TCGA-AG-3898-01A-01W-1073-09 TCGA-AG-3898-10A-01W-1073-09 g.chr13:111926252C>T c.1228C>T c.(1228-1230)Ctg>Ttg p.L410L SARC 13 111955453 111955453 + Missense_Mutation SNP A A G TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 g.chr13:111955453A>G c.2111A>G c.(2110-2112)aAt>aGt p.N704S SKCM 13 111768020 111768020 + Silent SNP C C T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr13:111768020C>T c.147C>T c.(145-147)ctC>ctT p.L49L SKCM 13 111857668 111857668 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr13:111857668G>A c.348G>A c.(346-348)caG>caA p.Q116Q SKCM 13 111896267 111896267 + Nonsense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr13:111896267C>T c.871C>T c.(871-873)Cag>Tag p.Q291* SKCM 13 111926203 111926203 + Silent SNP C C T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 g.chr13:111926203C>T c.1179C>T c.(1177-1179)agC>agT p.S393S SKCM 13 111926203 111926203 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 g.chr13:111926203C>T c.1179C>T c.(1177-1179)agC>agT p.S393S SKCM 13 111926204 111926204 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 g.chr13:111926204C>T c.1180C>T c.(1180-1182)Cct>Tct p.P394S SKCM 13 111944655 111944655 + Missense_Mutation SNP C C G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr13:111944655C>G c.2388C>G c.(2386-2388)tgC>tgG p.C796W SKCM 13 111953096 111953096 + Splice_Site SNP T T C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 g.chr13:111953096T>C c.1842T>C c.(1840-1842)cgT>cgC p.R614R SKCM 13 111955450 111955450 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr13:111955450C>T c.2108C>T c.(2107-2109)aCc>aTc p.T703I

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 13 111929934 111929934 single base substitution G A downstream_gene_variant BLCA-US 13 111929934 111929934 single base substitution G A missense_variant E151K 451G>A BLCA-US 13 111929934 111929934 single base substitution G A missense_variant E239K 715G>A BLCA-US 13 111929934 111929934 single base substitution G A missense_variant E317K 949G>A BLCA-US 13 111929934 111929934 single base substitution G A missense_variant E392K 1174G>A BLCA-US 13 111929934 111929934 single base substitution G A missense_variant E402K 1204G>A BLCA-US 13 111929934 111929934 single base substitution G A missense_variant E445K 1333G>A BLCA-US 13 111929934 111929934 single base substitution G A missense_variant E474K 1420G>A BLCA-US 13 111929934 111929934 single base substitution G A missense_variant E495K 1483G>A BLCA-US 13 111929934 111929934 single base substitution G A splice_region_variant BLCA-US 13 111929950 111929950 single base substitution A C 3_prime_UTR_variant BLCA-US 13 111929950 111929950 single base substitution A C downstream_gene_variant BLCA-US 13 111929950 111929950 single base substitution A C missense_variant Y156S 467A>C BLCA-US 13 111929950 111929950 single base substitution A C missense_variant Y244S 731A>C BLCA-US 13 111929950 111929950 single base substitution A C missense_variant Y322S 965A>C BLCA-US 13 111929950 111929950 single base substitution A C missense_variant Y397S 1190A>C BLCA-US 13 111929950 111929950 single base substitution A C missense_variant Y407S 1220A>C BLCA-US 13 111929950 111929950 single base substitution A C missense_variant Y450S 1349A>C BLCA-US 13 111929950 111929950 single base substitution A C missense_variant Y479S 1436A>C BLCA-US 13 111929950 111929950 single base substitution A C missense_variant Y500S 1499A>C BLCA-US 13 111932947 111932947 single base substitution G C 3_prime_UTR_variant BLCA-US 13 111932947 111932947 single base substitution G C downstream_gene_variant BLCA-US 13 111932947 111932947 single base substitution G C missense_variant E315Q 943G>C BLCA-US 13 111932947 111932947 single base substitution G C missense_variant E393Q 1177G>C BLCA-US 13 111932947 111932947 single base substitution G C missense_variant E468Q 1402G>C BLCA-US 13 111932947 111932947 single base substitution G C missense_variant E478Q 1432G>C BLCA-US 13 111932947 111932947 single base substitution G C missense_variant E521Q 1561G>C BLCA-US 13 111932947 111932947 single base substitution G C missense_variant E550Q 1648G>C BLCA-US 13 111932947 111932947 single base substitution G C missense_variant E571Q 1711G>C BLCA-US 13 111932947 111932947 single base substitution G C upstream_gene_variant BRCA-EU 13 111763669 111763669 single base substitution C T upstream_gene_variant BRCA-EU 13 111763952 111763952 single base substitution T C upstream_gene_variant BRCA-EU 13 111764803 111764803 single base substitution C T upstream_gene_variant BRCA-EU 13 111764819 111764819 single base substitution A G upstream_gene_variant BRCA-EU 13 111764823 111764823 single base substitution C A upstream_gene_variant BRCA-EU 13 111765058 111765058 single base substitution C T upstream_gene_variant BRCA-EU 13 111765127 111765127 single base substitution G A upstream_gene_variant BRCA-EU 13 111766948 111766948 single base substitution A T exon_variant BRCA-EU 13 111766948 111766948 single base substitution A T upstream_gene_variant BRCA-EU 13 111767713 111767713 single base substitution G A 5_prime_UTR_variant BRCA-EU 13 111767713 111767713 single base substitution G A intron_variant BRCA-EU 13 111767713 111767713 single base substitution G A upstream_gene_variant BRCA-EU 13 111767949 111767949 single base substitution G A 5_prime_UTR_variant BRCA-EU 13 111767949 111767949 single base substitution G A exon_variant BRCA-EU 13 111767949 111767949 single base substitution G A intron_variant BRCA-EU 13 111767949 111767949 single base substitution G A missense_variant D26N 76G>A BRCA-EU 13 111770130 111770130 single base substitution A G downstream_gene_variant BRCA-EU 13 111770130 111770130 single base substitution A G intron_variant BRCA-EU 13 111770458 111770458 deletion of <=200bp C - downstream_gene_variant BRCA-EU 13 111770458 111770458 deletion of <=200bp C - intron_variant BRCA-EU 13 111772668 111772668 single base substitution T C downstream_gene_variant BRCA-EU 13 111772668 111772668 single base substitution T C intron_variant BRCA-EU 13 111773307 111773307 single base substitution G T downstream_gene_variant BRCA-EU 13 111773307 111773307 single base substitution G T intron_variant BRCA-EU 13 111774590 111774590 single base substitution G A intron_variant BRCA-EU 13 111775236 111775236 single base substitution C G intron_variant BRCA-EU 13 111775350 111775350 single base substitution G C intron_variant BRCA-EU 13 111775527 111775527 single base substitution C G intron_variant BRCA-EU 13 111776148 111776148 single base substitution C T intron_variant BRCA-EU 13 111776778 111776778 single base substitution G C intron_variant BRCA-EU 13 111777238 111777238 single base substitution C G intron_variant BRCA-EU 13 111777493 111777493 single base substitution G A intron_variant BRCA-EU 13 111778604 111778604 single base substitution G A intron_variant BRCA-EU 13 111779913 111779913 single base substitution G C intron_variant BRCA-EU 13 111780550 111780550 single base substitution C T intron_variant BRCA-EU 13 111782517 111782517 single base substitution T G intron_variant BRCA-EU 13 111782667 111782667 single base substitution A T intron_variant BRCA-EU 13 111783299 111783299 single base substitution G T intron_variant BRCA-EU 13 111785871 111785871 single base substitution C T intron_variant BRCA-EU 13 111790016 111790016 single base substitution T G intron_variant BRCA-EU 13 111791538 111791538 single base substitution C G intron_variant BRCA-EU 13 111791965 111791965 single base substitution C T intron_variant BRCA-EU 13 111792239 111792239 single base substitution C A intron_variant BRCA-EU 13 111793953 111793953 single base substitution G T intron_variant BRCA-EU 13 111794145 111794145 single base substitution T G intron_variant BRCA-EU 13 111794165 111794165 single base substitution C T intron_variant BRCA-EU 13 111795915 111795915 single base substitution C G intron_variant BRCA-EU 13 111796037 111796037 single base substitution G C intron_variant BRCA-EU 13 111797891 111797891 single base substitution C A intron_variant BRCA-EU 13 111799673 111799673 single base substitution T C intron_variant BRCA-EU 13 111799927 111799927 single base substitution C T intron_variant BRCA-EU 13 111800268 111800268 single base substitution T A intron_variant BRCA-EU 13 111800470 111800470 single base substitution C A intron_variant BRCA-EU 13 111802079 111802079 single base substitution C T intron_variant BRCA-EU 13 111802079 111802079 single base substitution C T upstream_gene_variant BRCA-EU 13 111802652 111802652 single base substitution G C intron_variant BRCA-EU 13 111802652 111802652 single base substitution G C upstream_gene_variant BRCA-EU 13 111802972 111802972 single base substitution G A intron_variant BRCA-EU 13 111802972 111802972 single base substitution G A upstream_gene_variant BRCA-EU 13 111803373 111803373 single base substitution T C intron_variant BRCA-EU 13 111803373 111803373 single base substitution T C upstream_gene_variant BRCA-EU 13 111803582 111803582 single base substitution C G intron_variant BRCA-EU 13 111803582 111803582 single base substitution C G upstream_gene_variant BRCA-EU 13 111803686 111803686 single base substitution C T intron_variant BRCA-EU 13 111803686 111803686 single base substitution C T upstream_gene_variant BRCA-EU 13 111804387 111804387 single base substitution T C intron_variant BRCA-EU 13 111804387 111804387 single base substitution T C upstream_gene_variant BRCA-EU 13 111804450 111804450 single base substitution G C intron_variant BRCA-EU 13 111804450 111804450 single base substitution G C upstream_gene_variant BRCA-EU 13 111804480 111804480 single base substitution A T intron_variant BRCA-EU 13 111804480 111804480 single base substitution A T upstream_gene_variant BRCA-EU 13 111805448 111805448 single base substitution C G intron_variant BRCA-EU 13 111805448 111805448 single base substitution C G upstream_gene_variant BRCA-EU 13 111805817 111805817 single base substitution G A intron_variant BRCA-EU 13 111805817 111805817 single base substitution G A upstream_gene_variant BRCA-EU 13 111807403 111807403 single base substitution A G downstream_gene_variant BRCA-EU 13 111807403 111807403 single base substitution A G intron_variant BRCA-EU 13 111807631 111807631 single base substitution A C downstream_gene_variant BRCA-EU 13 111807631 111807631 single base substitution A C intron_variant BRCA-EU 13 111807808 111807813 deletion of <=200bp TACACG - downstream_gene_variant BRCA-EU 13 111807808 111807813 deletion of <=200bp TACACG - intron_variant BRCA-EU 13 111808202 111808202 single base substitution C T downstream_gene_variant BRCA-EU 13 111808202 111808202 single base substitution C T intron_variant BRCA-EU 13 111808413 111808413 single base substitution G C downstream_gene_variant BRCA-EU 13 111808413 111808413 single base substitution G C intron_variant BRCA-EU 13 111809842 111809842 single base substitution C G downstream_gene_variant BRCA-EU 13 111809842 111809842 single base substitution C G intron_variant BRCA-EU 13 111810577 111810577 insertion of <=200bp - T downstream_gene_variant BRCA-EU 13 111810577 111810577 insertion of <=200bp - T intron_variant BRCA-EU 13 111810613 111810613 single base substitution G C downstream_gene_variant BRCA-EU 13 111810613 111810613 single base substitution G C intron_variant BRCA-EU 13 111812068 111812068 deletion of <=200bp T - intron_variant BRCA-EU 13 111814046 111814046 single base substitution G A intron_variant BRCA-EU 13 111814790 111814790 single base substitution G A intron_variant BRCA-EU 13 111816334 111816334 single base substitution G A intron_variant BRCA-EU 13 111820480 111820480 single base substitution C T intron_variant BRCA-EU 13 111822382 111822382 single base substitution A C intron_variant BRCA-EU 13 111822571 111822571 single base substitution A T intron_variant BRCA-EU 13 111823271 111823277 deletion of <=200bp TTATCTT - intron_variant BRCA-EU 13 111823847 111823847 single base substitution C G intron_variant BRCA-EU 13 111824448 111824448 single base substitution A G intron_variant BRCA-EU 13 111824688 111824688 deletion of <=200bp A - intron_variant BRCA-EU 13 111827019 111827019 single base substitution G C intron_variant BRCA-EU 13 111829547 111829547 single base substitution C T intron_variant BRCA-EU 13 111830869 111830869 single base substitution G C intron_variant BRCA-EU 13 111830914 111830914 deletion of <=200bp A - intron_variant BRCA-EU 13 111831627 111831627 single base substitution C T intron_variant BRCA-EU 13 111831691 111831691 single base substitution G A intron_variant BRCA-EU 13 111831999 111831999 single base substitution C T intron_variant BRCA-EU 13 111832511 111832511 single base substitution T G intron_variant BRCA-EU 13 111832511 111832511 single base substitution T G upstream_gene_variant BRCA-EU 13 111833949 111833949 single base substitution G C intron_variant BRCA-EU 13 111833949 111833949 single base substitution G C upstream_gene_variant BRCA-EU 13 111834218 111834218 single base substitution C T intron_variant BRCA-EU 13 111834218 111834218 single base substitution C T upstream_gene_variant BRCA-EU 13 111837539 111837539 single base substitution C T 5_prime_UTR_variant BRCA-EU 13 111837539 111837539 single base substitution C T intron_variant BRCA-EU 13 111837539 111837539 single base substitution C T upstream_gene_variant BRCA-EU 13 111839673 111839673 single base substitution C T intron_variant BRCA-EU 13 111841998 111841998 single base substitution C G intron_variant BRCA-EU 13 111842677 111842677 single base substitution C T intron_variant BRCA-EU 13 111844121 111844121 single base substitution G C intron_variant BRCA-EU 13 111845473 111845473 single base substitution T G intron_variant BRCA-EU 13 111845564 111845564 single base substitution A G intron_variant BRCA-EU 13 111847317 111847329 deletion of <=200bp CTCATTGATGAGT - intron_variant BRCA-EU 13 111847319 111847319 single base substitution C G intron_variant BRCA-EU 13 111847329 111847329 single base substitution T C intron_variant BRCA-EU 13 111848366 111848366 single base substitution G C intron_variant BRCA-EU 13 111849648 111849648 single base substitution C T intron_variant BRCA-EU 13 111850786 111850786 single base substitution G C intron_variant BRCA-EU 13 111850786 111850786 single base substitution G C upstream_gene_variant BRCA-EU 13 111851583 111851583 single base substitution C T intron_variant BRCA-EU 13 111851583 111851583 single base substitution C T upstream_gene_variant BRCA-EU 13 111851742 111851742 single base substitution G A intron_variant BRCA-EU 13 111851742 111851742 single base substitution G A upstream_gene_variant BRCA-EU 13 111853994 111853994 single base substitution G C intron_variant BRCA-EU 13 111853994 111853994 single base substitution G C upstream_gene_variant BRCA-EU 13 111854100 111854100 single base substitution G A intron_variant BRCA-EU 13 111854100 111854100 single base substitution G A upstream_gene_variant BRCA-EU 13 111854467 111854467 single base substitution T A intron_variant BRCA-EU 13 111854467 111854467 single base substitution T A upstream_gene_variant BRCA-EU 13 111854658 111854658 single base substitution C G intron_variant BRCA-EU 13 111854658 111854658 single base substitution C G upstream_gene_variant BRCA-EU 13 111855118 111855118 single base substitution C T intron_variant BRCA-EU 13 111855118 111855118 single base substitution C T upstream_gene_variant BRCA-EU 13 111855662 111855662 deletion of <=200bp A - intron_variant BRCA-EU 13 111855662 111855662 deletion of <=200bp A - upstream_gene_variant BRCA-EU 13 111856604 111856604 single base substitution C A intron_variant BRCA-EU 13 111856604 111856604 single base substitution C A upstream_gene_variant BRCA-EU 13 111856884 111856884 single base substitution C T intron_variant BRCA-EU 13 111856884 111856884 single base substitution C T upstream_gene_variant BRCA-EU 13 111858099 111858099 single base substitution G C intron_variant BRCA-EU 13 111859754 111859754 single base substitution A G intron_variant BRCA-EU 13 111860860 111860860 single base substitution A C intron_variant BRCA-EU 13 111861487 111861487 single base substitution C A intron_variant BRCA-EU 13 111861910 111861910 insertion of <=200bp - T intron_variant BRCA-EU 13 111862155 111862155 single base substitution G T intron_variant BRCA-EU 13 111865382 111865394 deletion of <=200bp GTAAAGGAAATTA - intron_variant BRCA-EU 13 111866650 111866650 single base substitution C T intron_variant BRCA-EU 13 111866968 111866968 single base substitution C A intron_variant BRCA-EU 13 111868469 111868469 single base substitution T C intron_variant BRCA-EU 13 111868869 111868869 single base substitution G A intron_variant BRCA-EU 13 111869009 111869009 single base substitution G A intron_variant BRCA-EU 13 111870759 111870759 single base substitution C T downstream_gene_variant BRCA-EU 13 111870759 111870759 single base substitution C T intron_variant BRCA-EU 13 111872859 111872859 deletion of <=200bp G - downstream_gene_variant BRCA-EU 13 111872859 111872859 deletion of <=200bp G - intron_variant BRCA-EU 13 111877160 111877160 single base substitution C T intron_variant BRCA-EU 13 111877488 111877488 single base substitution G A intron_variant BRCA-EU 13 111878573 111878573 single base substitution A T intron_variant BRCA-EU 13 111880507 111880507 single base substitution G A intron_variant BRCA-EU 13 111880986 111880986 single base substitution C T intron_variant BRCA-EU 13 111882295 111882295 single base substitution C G intron_variant BRCA-EU 13 111883456 111883456 single base substitution C T intron_variant BRCA-EU 13 111885137 111885137 single base substitution C G intron_variant BRCA-EU 13 111885988 111885988 single base substitution C T intron_variant BRCA-EU 13 111886997 111886997 single base substitution G C intron_variant BRCA-EU 13 111889013 111889013 single base substitution T C intron_variant BRCA-EU 13 111889013 111889013 single base substitution T C upstream_gene_variant BRCA-EU 13 111890304 111890304 single base substitution C A intron_variant BRCA-EU 13 111890304 111890304 single base substitution C A upstream_gene_variant BRCA-EU 13 111895747 111895747 single base substitution G A intron_variant BRCA-EU 13 111897369 111897369 single base substitution G C intron_variant BRCA-EU 13 111897535 111897535 single base substitution A T intron_variant BRCA-EU 13 111897611 111897611 deletion of <=200bp T - intron_variant BRCA-EU 13 111897792 111897792 single base substitution C G intron_variant BRCA-EU 13 111898540 111898540 single base substitution T C intron_variant BRCA-EU 13 111899732 111899732 single base substitution C T intron_variant BRCA-EU 13 111900082 111900082 single base substitution C T intron_variant BRCA-EU 13 111900187 111900187 single base substitution C T intron_variant BRCA-EU 13 111900319 111900319 single base substitution C T intron_variant BRCA-EU 13 111902384 111902384 single base substitution G A intron_variant BRCA-EU 13 111906670 111906670 single base substitution T A intron_variant BRCA-EU 13 111907662 111907662 single base substitution G T intron_variant BRCA-EU 13 111908526 111908526 single base substitution G A intron_variant BRCA-EU 13 111909791 111909791 single base substitution G T intron_variant BRCA-EU 13 111911846 111911846 single base substitution C T intron_variant BRCA-EU 13 111913892 111913892 single base substitution A G intron_variant BRCA-EU 13 111914066 111914066 single base substitution A T intron_variant BRCA-EU 13 111915172 111915172 single base substitution C T intron_variant BRCA-EU 13 111916209 111916209 single base substitution C T intron_variant BRCA-EU 13 111917303 111917303 single base substitution C G intron_variant BRCA-EU 13 111918896 111918896 deletion of <=200bp T - intron_variant BRCA-EU 13 111918945 111918945 single base substitution T C intron_variant BRCA-EU 13 111920029 111920029 single base substitution A G intron_variant BRCA-EU 13 111920232 111920232 single base substitution C G intron_variant BRCA-EU 13 111922148 111922148 single base substitution C T intron_variant BRCA-EU 13 111923694 111923694 single base substitution G T intron_variant BRCA-EU 13 111924924 111924924 single base substitution C T intron_variant BRCA-EU 13 111925817 111925817 single base substitution C T intron_variant BRCA-EU 13 111926095 111926095 single base substitution G T intron_variant BRCA-EU 13 111926104 111926104 single base substitution G A intron_variant BRCA-EU 13 111926966 111926966 single base substitution A C intron_variant BRCA-EU 13 111927104 111927104 single base substitution T C 3_prime_UTR_variant BRCA-EU 13 111927104 111927104 single base substitution T C exon_variant BRCA-EU 13 111927104 111927104 single base substitution T C synonymous_variant I178I 534T>C BRCA-EU 13 111927104 111927104 single base substitution T C synonymous_variant I256I 768T>C BRCA-EU 13 111927104 111927104 single base substitution T C synonymous_variant I331I 993T>C BRCA-EU 13 111927104 111927104 single base substitution T C synonymous_variant I341I 1023T>C BRCA-EU 13 111927104 111927104 single base substitution T C synonymous_variant I384I 1152T>C BRCA-EU 13 111927104 111927104 single base substitution T C synonymous_variant I413I 1239T>C BRCA-EU 13 111927104 111927104 single base substitution T C synonymous_variant I434I 1302T>C BRCA-EU 13 111927104 111927104 single base substitution T C synonymous_variant I90I 270T>C BRCA-EU 13 111927931 111927931 single base substitution C T 3_prime_UTR_variant BRCA-EU 13 111927931 111927931 single base substitution C T exon_variant BRCA-EU 13 111927931 111927931 single base substitution C T missense_variant T119M 356C>T BRCA-EU 13 111927931 111927931 single base substitution C T missense_variant T207M 620C>T BRCA-EU 13 111927931 111927931 single base substitution C T missense_variant T285M 854C>T BRCA-EU 13 111927931 111927931 single base substitution C T missense_variant T360M 1079C>T BRCA-EU 13 111927931 111927931 single base substitution C T missense_variant T370M 1109C>T BRCA-EU 13 111927931 111927931 single base substitution C T missense_variant T413M 1238C>T BRCA-EU 13 111927931 111927931 single base substitution C T missense_variant T442M 1325C>T BRCA-EU 13 111927931 111927931 single base substitution C T missense_variant T463M 1388C>T BRCA-EU 13 111927984 111927984 single base substitution A T 3_prime_UTR_variant BRCA-EU 13 111927984 111927984 single base substitution A T exon_variant BRCA-EU 13 111927984 111927984 single base substitution A T missense_variant T137S 409A>T BRCA-EU 13 111927984 111927984 single base substitution A T missense_variant T225S 673A>T BRCA-EU 13 111927984 111927984 single base substitution A T missense_variant T303S 907A>T BRCA-EU 13 111927984 111927984 single base substitution A T missense_variant T378S 1132A>T BRCA-EU 13 111927984 111927984 single base substitution A T missense_variant T388S 1162A>T BRCA-EU 13 111927984 111927984 single base substitution A T missense_variant T431S 1291A>T BRCA-EU 13 111927984 111927984 single base substitution A T missense_variant T460S 1378A>T BRCA-EU 13 111927984 111927984 single base substitution A T missense_variant T481S 1441A>T BRCA-EU 13 111929230 111929230 deletion of <=200bp T - downstream_gene_variant BRCA-EU 13 111929230 111929230 deletion of <=200bp T - intron_variant BRCA-EU 13 111930613 111930613 single base substitution G C downstream_gene_variant BRCA-EU 13 111930613 111930613 single base substitution G C intron_variant BRCA-EU 13 111930613 111930613 single base substitution G C upstream_gene_variant BRCA-EU 13 111932600 111932600 deletion of <=200bp G - downstream_gene_variant BRCA-EU 13 111932600 111932600 deletion of <=200bp G - intron_variant BRCA-EU 13 111932600 111932600 deletion of <=200bp G - upstream_gene_variant BRCA-EU 13 111932731 111932731 single base substitution C T downstream_gene_variant BRCA-EU 13 111932731 111932731 single base substitution C T intron_variant BRCA-EU 13 111932731 111932731 single base substitution C T upstream_gene_variant BRCA-EU 13 111934192 111934192 single base substitution A G intron_variant BRCA-EU 13 111934192 111934192 single base substitution A G upstream_gene_variant BRCA-EU 13 111934837 111934837 single base substitution C G intron_variant BRCA-EU 13 111934837 111934837 single base substitution C G upstream_gene_variant BRCA-EU 13 111934942 111934942 single base substitution C G intron_variant BRCA-EU 13 111934942 111934942 single base substitution C G upstream_gene_variant BRCA-EU 13 111934959 111934959 single base substitution C T intron_variant BRCA-EU 13 111934959 111934959 single base substitution C T upstream_gene_variant BRCA-EU 13 111935301 111935301 single base substitution G A exon_variant BRCA-EU 13 111935301 111935301 single base substitution G A intron_variant BRCA-EU 13 111936247 111936247 single base substitution C T downstream_gene_variant BRCA-EU 13 111936247 111936247 single base substitution C T intron_variant BRCA-EU 13 111937004 111937004 single base substitution C T downstream_gene_variant BRCA-EU 13 111937004 111937004 single base substitution C T intron_variant BRCA-EU 13 111937072 111937072 single base substitution C G downstream_gene_variant BRCA-EU 13 111937072 111937072 single base substitution C G intron_variant BRCA-EU 13 111938085 111938085 single base substitution C A downstream_gene_variant BRCA-EU 13 111938085 111938085 single base substitution C A intron_variant BRCA-EU 13 111938219 111938219 single base substitution C T downstream_gene_variant BRCA-EU 13 111938219 111938219 single base substitution C T intron_variant BRCA-EU 13 111938806 111938806 single base substitution G A downstream_gene_variant BRCA-EU 13 111938806 111938806 single base substitution G A intron_variant BRCA-EU 13 111940308 111940308 single base substitution T C downstream_gene_variant BRCA-EU 13 111940308 111940308 single base substitution T C intron_variant BRCA-EU 13 111942825 111942825 single base substitution C T downstream_gene_variant BRCA-EU 13 111942825 111942825 single base substitution C T intron_variant BRCA-EU 13 111943822 111943822 single base substitution G C intron_variant BRCA-EU 13 111944879 111944879 single base substitution G A 3_prime_UTR_variant BRCA-EU 13 111944879 111944879 single base substitution G A downstream_gene_variant BRCA-EU 13 111944879 111944879 single base substitution G A intron_variant BRCA-EU 13 111944952 111944952 insertion of <=200bp - T 3_prime_UTR_variant BRCA-EU 13 111944952 111944952 insertion of <=200bp - T downstream_gene_variant BRCA-EU 13 111944952 111944952 insertion of <=200bp - T intron_variant BRCA-EU 13 111945595 111945595 single base substitution G A 3_prime_UTR_variant BRCA-EU 13 111945595 111945595 single base substitution G A downstream_gene_variant BRCA-EU 13 111945595 111945595 single base substitution G A intron_variant BRCA-EU 13 111947387 111947387 single base substitution C T 3_prime_UTR_variant BRCA-EU 13 111947387 111947387 single base substitution C T downstream_gene_variant BRCA-EU 13 111947387 111947387 single base substitution C T intron_variant BRCA-EU 13 111951469 111951469 single base substitution T C downstream_gene_variant BRCA-EU 13 111951469 111951469 single base substitution T C intron_variant BRCA-EU 13 111951850 111951850 single base substitution C T downstream_gene_variant BRCA-EU 13 111951850 111951850 single base substitution C T intron_variant BRCA-EU 13 111952851 111952851 single base substitution C T intron_variant BRCA-EU 13 111953084 111953084 single base substitution C T intron_variant BRCA-EU 13 111954140 111954140 single base substitution G C intron_variant BRCA-EU 13 111954626 111954626 single base substitution C G intron_variant BRCA-EU 13 111954696 111954696 single base substitution C G intron_variant BRCA-EU 13 111954788 111954788 single base substitution C G intron_variant BRCA-EU 13 111954799 111954799 single base substitution C T intron_variant BRCA-EU 13 111954807 111954807 single base substitution C T intron_variant BRCA-EU 13 111954841 111954841 single base substitution C A intron_variant BRCA-EU 13 111954848 111954848 single base substitution C T intron_variant BRCA-EU 13 111955047 111955047 single base substitution G A intron_variant BRCA-EU 13 111956792 111956792 single base substitution C T 3_prime_UTR_variant BRCA-EU 13 111956792 111956792 single base substitution C T downstream_gene_variant BRCA-EU 13 111956871 111956871 single base substitution C A 3_prime_UTR_variant BRCA-EU 13 111956871 111956871 single base substitution C A downstream_gene_variant BRCA-EU 13 111958235 111958235 deletion of <=200bp T - downstream_gene_variant BRCA-EU 13 111958620 111958620 single base substitution T C downstream_gene_variant BRCA-EU 13 111959161 111959161 single base substitution C A downstream_gene_variant BRCA-EU 13 111959942 111959942 single base substitution C G downstream_gene_variant BRCA-EU 13 111960675 111960675 single base substitution G A downstream_gene_variant BRCA-EU 13 111961367 111961367 single base substitution G C downstream_gene_variant BRCA-FR 13 111764819 111764819 single base substitution A G upstream_gene_variant BRCA-FR 13 111765127 111765127 single base substitution G A upstream_gene_variant BRCA-FR 13 111777493 111777493 single base substitution G A intron_variant BRCA-FR 13 111788128 111788128 single base substitution C A intron_variant BRCA-FR 13 111790396 111790396 single base substitution C G intron_variant BRCA-FR 13 111792239 111792239 single base substitution C A intron_variant BRCA-FR 13 111794165 111794165 single base substitution C T intron_variant BRCA-FR 13 111797391 111797391 single base substitution T A intron_variant BRCA-FR 13 111804480 111804480 single base substitution A T intron_variant BRCA-FR 13 111804480 111804480 single base substitution A T upstream_gene_variant BRCA-FR 13 111828137 111828137 single base substitution G A intron_variant BRCA-FR 13 111847319 111847319 single base substitution C G intron_variant BRCA-FR 13 111857344 111857344 single base substitution C G intron_variant BRCA-FR 13 111857344 111857344 single base substitution C G upstream_gene_variant BRCA-FR 13 111880986 111880986 single base substitution C T intron_variant BRCA-FR 13 111882295 111882295 single base substitution C G intron_variant BRCA-FR 13 111893976 111893976 single base substitution C T intron_variant BRCA-FR 13 111897792 111897792 single base substitution C G intron_variant BRCA-FR 13 111900319 111900319 single base substitution C T intron_variant BRCA-FR 13 111908526 111908526 single base substitution G A intron_variant BRCA-FR 13 111920232 111920232 single base substitution C G intron_variant BRCA-FR 13 111938219 111938219 single base substitution C T downstream_gene_variant BRCA-FR 13 111938219 111938219 single base substitution C T intron_variant BRCA-KR 13 111919833 111919833 single base substitution A G intron_variant BRCA-UK 13 111770130 111770130 single base substitution A G downstream_gene_variant BRCA-UK 13 111770130 111770130 single base substitution A G intron_variant BRCA-UK 13 111795915 111795915 single base substitution C G intron_variant BRCA-UK 13 111799673 111799673 single base substitution T C intron_variant BRCA-UK 13 111804317 111804317 single base substitution C T intron_variant BRCA-UK 13 111804317 111804317 single base substitution C T upstream_gene_variant BRCA-UK 13 111804875 111804875 single base substitution C G intron_variant BRCA-UK 13 111804875 111804875 single base substitution C G upstream_gene_variant BRCA-UK 13 111812411 111812411 single base substitution C T intron_variant BRCA-UK 13 111827019 111827019 single base substitution G C intron_variant BRCA-UK 13 111845685 111845685 single base substitution C G intron_variant BRCA-UK 13 111865382 111865394 deletion of <=200bp GTAAAGGAAATTA - intron_variant BRCA-UK 13 111885988 111885988 single base substitution C T intron_variant BRCA-UK 13 111889553 111889553 single base substitution C T intron_variant BRCA-UK 13 111889553 111889553 single base substitution C T upstream_gene_variant BRCA-UK 13 111897369 111897369 single base substitution G C intron_variant BRCA-UK 13 111910119 111910119 single base substitution C T intron_variant BRCA-UK 13 111914066 111914066 single base substitution A T intron_variant BRCA-UK 13 111937072 111937072 single base substitution C G downstream_gene_variant BRCA-UK 13 111937072 111937072 single base substitution C G intron_variant BRCA-UK 13 111962501 111962501 single base substitution G A downstream_gene_variant BRCA-US 13 111806290 111806290 single base substitution C T 5_prime_UTR_variant BRCA-US 13 111806290 111806290 single base substitution C T exon_variant BRCA-US 13 111806290 111806290 single base substitution C T intron_variant BRCA-US 13 111806290 111806290 single base substitution C T synonymous_variant S68S 204C>T BRCA-US 13 111919984 111919984 single base substitution A C 3_prime_UTR_variant BRCA-US 13 111919984 111919984 single base substitution A C exon_variant BRCA-US 13 111919984 111919984 single base substitution A C missense_variant H112P 335A>C BRCA-US 13 111919984 111919984 single base substitution A C missense_variant H190P 569A>C BRCA-US 13 111919984 111919984 single base substitution A C missense_variant H265P 794A>C BRCA-US 13 111919984 111919984 single base substitution A C missense_variant H275P 824A>C BRCA-US 13 111919984 111919984 single base substitution A C missense_variant H318P 953A>C BRCA-US 13 111919984 111919984 single base substitution A C missense_variant H347P 1040A>C BRCA-US 13 111919984 111919984 single base substitution A C missense_variant H368P 1103A>C BRCA-US 13 111919984 111919984 single base substitution A C synonymous_variant S70S 210A>C BRCA-US 13 111927099 111927099 single base substitution G A 3_prime_UTR_variant BRCA-US 13 111927099 111927099 single base substitution G A exon_variant BRCA-US 13 111927099 111927099 single base substitution G A missense_variant D177N 529G>A BRCA-US 13 111927099 111927099 single base substitution G A missense_variant D255N 763G>A BRCA-US 13 111927099 111927099 single base substitution G A missense_variant D330N 988G>A BRCA-US 13 111927099 111927099 single base substitution G A missense_variant D340N 1018G>A BRCA-US 13 111927099 111927099 single base substitution G A missense_variant D383N 1147G>A BRCA-US 13 111927099 111927099 single base substitution G A missense_variant D412N 1234G>A BRCA-US 13 111927099 111927099 single base substitution G A missense_variant D433N 1297G>A BRCA-US 13 111927099 111927099 single base substitution G A missense_variant D89N 265G>A BRCA-US 13 111927123 111927123 single base substitution T C 3_prime_UTR_variant BRCA-US 13 111927123 111927123 single base substitution T C exon_variant BRCA-US 13 111927123 111927123 single base substitution T C missense_variant F185L 553T>C BRCA-US 13 111927123 111927123 single base substitution T C missense_variant F263L 787T>C BRCA-US 13 111927123 111927123 single base substitution T C missense_variant F338L 1012T>C BRCA-US 13 111927123 111927123 single base substitution T C missense_variant F348L 1042T>C BRCA-US 13 111927123 111927123 single base substitution T C missense_variant F391L 1171T>C BRCA-US 13 111927123 111927123 single base substitution T C missense_variant F420L 1258T>C BRCA-US 13 111927123 111927123 single base substitution T C missense_variant F441L 1321T>C BRCA-US 13 111927123 111927123 single base substitution T C missense_variant F97L 289T>C BRCA-US 13 111927898 111927898 single base substitution G A 3_prime_UTR_variant BRCA-US 13 111927898 111927898 single base substitution G A exon_variant BRCA-US 13 111927898 111927898 single base substitution G A missense_variant R108Q 323G>A BRCA-US 13 111927898 111927898 single base substitution G A missense_variant R196Q 587G>A BRCA-US 13 111927898 111927898 single base substitution G A missense_variant R274Q 821G>A BRCA-US 13 111927898 111927898 single base substitution G A missense_variant R349Q 1046G>A BRCA-US 13 111927898 111927898 single base substitution G A missense_variant R359Q 1076G>A BRCA-US 13 111927898 111927898 single base substitution G A missense_variant R402Q 1205G>A BRCA-US 13 111927898 111927898 single base substitution G A missense_variant R431Q 1292G>A BRCA-US 13 111927898 111927898 single base substitution G A missense_variant R452Q 1355G>A BRCA-US 13 111930018 111930018 single base substitution C T downstream_gene_variant BRCA-US 13 111930018 111930018 single base substitution C T splice_region_variant BRCA-US 13 111930018 111930018 single base substitution C T stop_gained Q179* 535C>T BRCA-US 13 111930018 111930018 single base substitution C T stop_gained Q267* 799C>T BRCA-US 13 111930018 111930018 single base substitution C T stop_gained Q345* 1033C>T BRCA-US 13 111930018 111930018 single base substitution C T stop_gained Q420* 1258C>T BRCA-US 13 111930018 111930018 single base substitution C T stop_gained Q430* 1288C>T BRCA-US 13 111930018 111930018 single base substitution C T stop_gained Q473* 1417C>T BRCA-US 13 111930018 111930018 single base substitution C T stop_gained Q502* 1504C>T BRCA-US 13 111930018 111930018 single base substitution C T stop_gained Q523* 1567C>T BRCA-US 13 111938540 111938540 single base substitution G T downstream_gene_variant BRCA-US 13 111938540 111938540 single base substitution G T exon_variant BRCA-US 13 111938540 111938540 single base substitution G T missense_variant R431L 1292G>T BRCA-US 13 111938540 111938540 single base substitution G T missense_variant R509L 1526G>T BRCA-US 13 111938540 111938540 single base substitution G T missense_variant R584L 1751G>T BRCA-US 13 111938540 111938540 single base substitution G T missense_variant R594L 1781G>T BRCA-US 13 111938540 111938540 single base substitution G T missense_variant R637L 1910G>T BRCA-US 13 111938540 111938540 single base substitution G T missense_variant R666L 1997G>T BRCA-US 13 111938540 111938540 single base substitution G T missense_variant R687L 2060G>T BRCA-US 13 111953173 111953173 single base substitution G T missense_variant G581V 1742G>T BRCA-US 13 111953173 111953173 single base substitution G T missense_variant G640V 1919G>T BRCA-US 13 111953173 111953173 single base substitution G T missense_variant G656V 1967G>T BRCA-US 13 111953173 111953173 single base substitution G T missense_variant G666V 1997G>T BRCA-US 13 111955406 111955406 single base substitution G A synonymous_variant V629V 1887G>A BRCA-US 13 111955406 111955406 single base substitution G A synonymous_variant V688V 2064G>A BRCA-US 13 111955406 111955406 single base substitution G A synonymous_variant V704V 2112G>A BRCA-US 13 111955406 111955406 single base substitution G A synonymous_variant V714V 2142G>A BRCA-US 13 111955427 111955427 single base substitution G A missense_variant M636I 1908G>A BRCA-US 13 111955427 111955427 single base substitution G A missense_variant M695I 2085G>A BRCA-US 13 111955427 111955427 single base substitution G A missense_variant M711I 2133G>A BRCA-US 13 111955427 111955427 single base substitution G A missense_variant M721I 2163G>A BTCA-JP 13 111768111 111768111 single base substitution C G intron_variant BTCA-JP 13 111857513 111857513 single base substitution C T intron_variant BTCA-JP 13 111857513 111857513 single base substitution C T upstream_gene_variant BTCA-JP 13 111862337 111862337 single base substitution G A 5_prime_UTR_variant BTCA-JP 13 111862337 111862337 single base substitution G A intron_variant BTCA-JP 13 111862337 111862337 single base substitution G A synonymous_variant Q123Q 369G>A BTCA-JP 13 111862337 111862337 single base substitution G A synonymous_variant Q152Q 456G>A BTCA-JP 13 111862337 111862337 single base substitution G A synonymous_variant Q173Q 519G>A BTCA-JP 13 111862337 111862337 single base substitution G A synonymous_variant Q70Q 210G>A BTCA-JP 13 111893571 111893571 single base substitution G A 5_prime_UTR_variant BTCA-JP 13 111893571 111893571 single base substitution G A exon_variant BTCA-JP 13 111893571 111893571 single base substitution G A intron_variant BTCA-JP 13 111893638 111893638 single base substitution C T exon_variant BTCA-JP 13 111893638 111893638 single base substitution C T intron_variant BTCA-JP 13 111893638 111893638 single base substitution C T synonymous_variant S3S 9C>T BTCA-JP 13 111919883 111919883 single base substitution G A intron_variant BTCA-JP 13 111932600 111932600 deletion of <=200bp G - downstream_gene_variant BTCA-JP 13 111932600 111932600 deletion of <=200bp G - intron_variant BTCA-JP 13 111932600 111932600 deletion of <=200bp G - upstream_gene_variant BTCA-JP 13 111940687 111940687 single base substitution G A downstream_gene_variant BTCA-JP 13 111940687 111940687 single base substitution G A intron_variant BTCA-JP 13 111940697 111940697 single base substitution A T downstream_gene_variant BTCA-JP 13 111940697 111940697 single base substitution A T splice_region_variant BTCA-JP 13 111944503 111944503 single base substitution G A intron_variant BTCA-JP 13 111944503 111944503 single base substitution G A missense_variant A490T 1468G>A BTCA-JP 13 111944503 111944503 single base substitution G A missense_variant A568T 1702G>A BTCA-JP 13 111944503 111944503 single base substitution G A missense_variant A696T 2086G>A BTCA-JP 13 111944503 111944503 single base substitution G A missense_variant A725T 2173G>A BTCA-JP 13 111944503 111944503 single base substitution G A missense_variant A746T 2236G>A CESC-US 13 111857660 111857660 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant CESC-US 13 111857660 111857660 single base substitution C G intron_variant CESC-US 13 111857660 111857660 single base substitution C G missense_variant Q114E 340C>G CESC-US 13 111857660 111857660 single base substitution C G missense_variant Q11E 31C>G CESC-US 13 111857660 111857660 single base substitution C G missense_variant Q64E 190C>G CESC-US 13 111857660 111857660 single base substitution C G missense_variant Q93E 277C>G CESC-US 13 111870159 111870159 single base substitution G A 5_prime_UTR_variant CESC-US 13 111870159 111870159 single base substitution G A downstream_gene_variant CESC-US 13 111870159 111870159 single base substitution G A exon_variant CESC-US 13 111870159 111870159 single base substitution G A stop_gained W119* 356G>A CESC-US 13 111870159 111870159 single base substitution G A stop_gained W129* 386G>A CESC-US 13 111870159 111870159 single base substitution G A stop_gained W172* 515G>A CESC-US 13 111870159 111870159 single base substitution G A stop_gained W201* 602G>A CESC-US 13 111870159 111870159 single base substitution G A stop_gained W222* 665G>A CESC-US 13 111870159 111870159 single base substitution G A stop_gained W44* 131G>A CESC-US 13 111918015 111918015 single base substitution C T 3_prime_UTR_variant CESC-US 13 111918015 111918015 single base substitution C T intron_variant CESC-US 13 111918015 111918015 single base substitution C T missense_variant S6L 17C>T CESC-US 13 111927125 111927125 single base substitution C T 3_prime_UTR_variant CESC-US 13 111927125 111927125 single base substitution C T exon_variant CESC-US 13 111927125 111927125 single base substitution C T synonymous_variant F185F 555C>T CESC-US 13 111927125 111927125 single base substitution C T synonymous_variant F263F 789C>T CESC-US 13 111927125 111927125 single base substitution C T synonymous_variant F338F 1014C>T CESC-US 13 111927125 111927125 single base substitution C T synonymous_variant F348F 1044C>T CESC-US 13 111927125 111927125 single base substitution C T synonymous_variant F391F 1173C>T CESC-US 13 111927125 111927125 single base substitution C T synonymous_variant F420F 1260C>T CESC-US 13 111927125 111927125 single base substitution C T synonymous_variant F441F 1323C>T CESC-US 13 111927125 111927125 single base substitution C T synonymous_variant F97F 291C>T CESC-US 13 111935688 111935688 single base substitution C T downstream_gene_variant CESC-US 13 111935688 111935688 single base substitution C T exon_variant CESC-US 13 111935688 111935688 single base substitution C T missense_variant S408L 1223C>T CESC-US 13 111935688 111935688 single base substitution C T missense_variant S486L 1457C>T CESC-US 13 111935688 111935688 single base substitution C T missense_variant S561L 1682C>T CESC-US 13 111935688 111935688 single base substitution C T missense_variant S571L 1712C>T CESC-US 13 111935688 111935688 single base substitution C T missense_variant S614L 1841C>T CESC-US 13 111935688 111935688 single base substitution C T missense_variant S643L 1928C>T CESC-US 13 111935688 111935688 single base substitution C T missense_variant S664L 1991C>T CLLE-ES 13 111763874 111763874 single base substitution C T upstream_gene_variant CLLE-ES 13 111768371 111768371 single base substitution C G intron_variant CLLE-ES 13 111773135 111773135 single base substitution T C downstream_gene_variant CLLE-ES 13 111773135 111773135 single base substitution T C intron_variant CLLE-ES 13 111790512 111790512 single base substitution T A intron_variant CLLE-ES 13 111797690 111797690 single base substitution G A intron_variant CLLE-ES 13 111836225 111836225 single base substitution C T intron_variant CLLE-ES 13 111836225 111836225 single base substitution C T upstream_gene_variant CLLE-ES 13 111841894 111841894 single base substitution G T intron_variant CLLE-ES 13 111886855 111886855 single base substitution C T intron_variant CLLE-ES 13 111922794 111922794 single base substitution T C intron_variant CLLE-ES 13 111927276 111927276 single base substitution G A intron_variant COAD-US 13 111811399 111811399 single base substitution C A intron_variant COAD-US 13 111811399 111811399 single base substitution C A missense_variant P93H 278C>A COAD-US 13 111870037 111870037 single base substitution T C 5_prime_UTR_variant COAD-US 13 111870037 111870037 single base substitution T C exon_variant COAD-US 13 111870037 111870037 single base substitution T C synonymous_variant D131D 393T>C COAD-US 13 111870037 111870037 single base substitution T C synonymous_variant D160D 480T>C COAD-US 13 111870037 111870037 single base substitution T C synonymous_variant D181D 543T>C COAD-US 13 111870037 111870037 single base substitution T C synonymous_variant D3D 9T>C COAD-US 13 111870037 111870037 single base substitution T C synonymous_variant D78D 234T>C COAD-US 13 111870037 111870037 single base substitution T C synonymous_variant D88D 264T>C COAD-US 13 111870123 111870123 single base substitution T C 5_prime_UTR_variant COAD-US 13 111870123 111870123 single base substitution T C exon_variant COAD-US 13 111870123 111870123 single base substitution T C missense_variant V107A 320T>C COAD-US 13 111870123 111870123 single base substitution T C missense_variant V117A 350T>C COAD-US 13 111870123 111870123 single base substitution T C missense_variant V160A 479T>C COAD-US 13 111870123 111870123 single base substitution T C missense_variant V189A 566T>C COAD-US 13 111870123 111870123 single base substitution T C missense_variant V210A 629T>C COAD-US 13 111870123 111870123 single base substitution T C missense_variant V32A 95T>C COAD-US 13 111896631 111896631 single base substitution G A exon_variant COAD-US 13 111896631 111896631 single base substitution G A intron_variant COAD-US 13 111896631 111896631 single base substitution G A missense_variant E157K 469G>A COAD-US 13 111896631 111896631 single base substitution G A missense_variant E232K 694G>A COAD-US 13 111896631 111896631 single base substitution G A missense_variant E242K 724G>A COAD-US 13 111896631 111896631 single base substitution G A missense_variant E285K 853G>A COAD-US 13 111896631 111896631 single base substitution G A missense_variant E314K 940G>A COAD-US 13 111896631 111896631 single base substitution G A missense_variant E335K 1003G>A COAD-US 13 111896631 111896631 single base substitution G A missense_variant E79K 235G>A COAD-US 13 111926250 111926250 single base substitution G A exon_variant COAD-US 13 111926250 111926250 single base substitution G A intron_variant COAD-US 13 111926250 111926250 single base substitution G A missense_variant R153H 458G>A COAD-US 13 111926250 111926250 single base substitution G A missense_variant R231H 692G>A COAD-US 13 111926250 111926250 single base substitution G A missense_variant R306H 917G>A COAD-US 13 111926250 111926250 single base substitution G A missense_variant R316H 947G>A COAD-US 13 111926250 111926250 single base substitution G A missense_variant R359H 1076G>A COAD-US 13 111926250 111926250 single base substitution G A missense_variant R388H 1163G>A COAD-US 13 111926250 111926250 single base substitution G A missense_variant R409H 1226G>A COAD-US 13 111932645 111932645 single base substitution A G downstream_gene_variant COAD-US 13 111932645 111932645 single base substitution A G intron_variant COAD-US 13 111932645 111932645 single base substitution A G synonymous_variant T276T 828A>G COAD-US 13 111932645 111932645 single base substitution A G synonymous_variant T354T 1062A>G COAD-US 13 111932645 111932645 single base substitution A G synonymous_variant T429T 1287A>G COAD-US 13 111932645 111932645 single base substitution A G synonymous_variant T439T 1317A>G COAD-US 13 111932645 111932645 single base substitution A G synonymous_variant T482T 1446A>G COAD-US 13 111932645 111932645 single base substitution A G synonymous_variant T511T 1533A>G COAD-US 13 111932645 111932645 single base substitution A G synonymous_variant T532T 1596A>G COAD-US 13 111932645 111932645 single base substitution A G upstream_gene_variant COAD-US 13 111932655 111932655 single base substitution C T downstream_gene_variant COAD-US 13 111932655 111932655 single base substitution C T intron_variant COAD-US 13 111932655 111932655 single base substitution C T missense_variant L280F 838C>T COAD-US 13 111932655 111932655 single base substitution C T missense_variant L358F 1072C>T COAD-US 13 111932655 111932655 single base substitution C T missense_variant L433F 1297C>T COAD-US 13 111932655 111932655 single base substitution C T missense_variant L443F 1327C>T COAD-US 13 111932655 111932655 single base substitution C T missense_variant L486F 1456C>T COAD-US 13 111932655 111932655 single base substitution C T missense_variant L515F 1543C>T COAD-US 13 111932655 111932655 single base substitution C T missense_variant L536F 1606C>T COAD-US 13 111932655 111932655 single base substitution C T upstream_gene_variant COAD-US 13 111932975 111932975 single base substitution C T 3_prime_UTR_variant COAD-US 13 111932975 111932975 single base substitution C T downstream_gene_variant COAD-US 13 111932975 111932975 single base substitution C T missense_variant T324M 971C>T COAD-US 13 111932975 111932975 single base substitution C T missense_variant T402M 1205C>T COAD-US 13 111932975 111932975 single base substitution C T missense_variant T477M 1430C>T COAD-US 13 111932975 111932975 single base substitution C T missense_variant T487M 1460C>T COAD-US 13 111932975 111932975 single base substitution C T missense_variant T530M 1589C>T COAD-US 13 111932975 111932975 single base substitution C T missense_variant T559M 1676C>T COAD-US 13 111932975 111932975 single base substitution C T missense_variant T580M 1739C>T COAD-US 13 111932975 111932975 single base substitution C T upstream_gene_variant COAD-US 13 111944571 111944571 single base substitution A G intron_variant COAD-US 13 111944571 111944571 single base substitution A G synonymous_variant S512S 1536A>G COAD-US 13 111944571 111944571 single base substitution A G synonymous_variant S590S 1770A>G COAD-US 13 111944571 111944571 single base substitution A G synonymous_variant S718S 2154A>G COAD-US 13 111944571 111944571 single base substitution A G synonymous_variant S747S 2241A>G COAD-US 13 111944571 111944571 single base substitution A G synonymous_variant S768S 2304A>G COAD-US 13 111955381 111955381 single base substitution C T missense_variant A621V 1862C>T COAD-US 13 111955381 111955381 single base substitution C T missense_variant A680V 2039C>T COAD-US 13 111955381 111955381 single base substitution C T missense_variant A696V 2087C>T COAD-US 13 111955381 111955381 single base substitution C T missense_variant A706V 2117C>T COCA-CN 13 111786394 111786394 single base substitution G C intron_variant COCA-CN 13 111811259 111811259 single base substitution T G downstream_gene_variant COCA-CN 13 111811259 111811259 single base substitution T G intron_variant COCA-CN 13 111862425 111862425 single base substitution C T intron_variant COCA-CN 13 111893664 111893664 single base substitution C T exon_variant COCA-CN 13 111893664 111893664 single base substitution C T intron_variant COCA-CN 13 111893664 111893664 single base substitution C T missense_variant T12M 35C>T COCA-CN 13 111906804 111906804 single base substitution G A intron_variant COCA-CN 13 111906931 111906931 single base substitution C G intron_variant COCA-CN 13 111919154 111919154 single base substitution C T intron_variant COCA-CN 13 111927161 111927161 single base substitution T C intron_variant COCA-CN 13 111927897 111927897 single base substitution C T 3_prime_UTR_variant COCA-CN 13 111927897 111927897 single base substitution C T exon_variant COCA-CN 13 111927897 111927897 single base substitution C T missense_variant R108W 322C>T COCA-CN 13 111927897 111927897 single base substitution C T missense_variant R196W 586C>T COCA-CN 13 111927897 111927897 single base substitution C T missense_variant R274W 820C>T COCA-CN 13 111927897 111927897 single base substitution C T missense_variant R349W 1045C>T COCA-CN 13 111927897 111927897 single base substitution C T missense_variant R359W 1075C>T COCA-CN 13 111927897 111927897 single base substitution C T missense_variant R402W 1204C>T COCA-CN 13 111927897 111927897 single base substitution C T missense_variant R431W 1291C>T COCA-CN 13 111927897 111927897 single base substitution C T missense_variant R452W 1354C>T COCA-CN 13 111932567 111932567 single base substitution T G downstream_gene_variant COCA-CN 13 111932567 111932567 single base substitution T G intron_variant COCA-CN 13 111932567 111932567 single base substitution T G upstream_gene_variant COCA-CN 13 111932577 111932577 single base substitution G A downstream_gene_variant COCA-CN 13 111932577 111932577 single base substitution G A intron_variant COCA-CN 13 111932577 111932577 single base substitution G A upstream_gene_variant COCA-CN 13 111932582 111932582 single base substitution A C downstream_gene_variant COCA-CN 13 111932582 111932582 single base substitution A C intron_variant COCA-CN 13 111932582 111932582 single base substitution A C upstream_gene_variant COCA-CN 13 111932596 111932596 single base substitution T G downstream_gene_variant COCA-CN 13 111932596 111932596 single base substitution T G intron_variant COCA-CN 13 111932596 111932596 single base substitution T G upstream_gene_variant COCA-CN 13 111932789 111932789 single base substitution T C downstream_gene_variant COCA-CN 13 111932789 111932789 single base substitution T C intron_variant COCA-CN 13 111932789 111932789 single base substitution T C upstream_gene_variant COCA-CN 13 111935538 111935538 single base substitution C T 3_prime_UTR_variant COCA-CN 13 111935538 111935538 single base substitution C T exon_variant COCA-CN 13 111935538 111935538 single base substitution C T missense_variant A358V 1073C>T COCA-CN 13 111935538 111935538 single base substitution C T missense_variant A436V 1307C>T COCA-CN 13 111935538 111935538 single base substitution C T missense_variant A511V 1532C>T COCA-CN 13 111935538 111935538 single base substitution C T missense_variant A521V 1562C>T COCA-CN 13 111935538 111935538 single base substitution C T missense_variant A564V 1691C>T COCA-CN 13 111935538 111935538 single base substitution C T missense_variant A593V 1778C>T COCA-CN 13 111935538 111935538 single base substitution C T missense_variant A614V 1841C>T COCA-CN 13 111940628 111940628 single base substitution C A downstream_gene_variant COCA-CN 13 111940628 111940628 single base substitution C A intron_variant COCA-CN 13 111953059 111953059 single base substitution G A intron_variant COCA-CN 13 111955383 111955383 single base substitution C T missense_variant R622C 1864C>T COCA-CN 13 111955383 111955383 single base substitution C T missense_variant R681C 2041C>T COCA-CN 13 111955383 111955383 single base substitution C T missense_variant R697C 2089C>T COCA-CN 13 111955383 111955383 single base substitution C T missense_variant R707C 2119C>T COCA-CN 13 111955993 111955993 single base substitution G A 3_prime_UTR_variant COCA-CN 13 111955993 111955993 single base substitution G A downstream_gene_variant COCA-CN 13 111957869 111957869 single base substitution G A 3_prime_UTR_variant COCA-CN 13 111957869 111957869 single base substitution G A downstream_gene_variant COCA-CN 13 111960824 111960824 single base substitution T A downstream_gene_variant COCA-CN 13 111962821 111962821 single base substitution A G downstream_gene_variant EOPC-DE 13 111807455 111807455 single base substitution G A downstream_gene_variant EOPC-DE 13 111807455 111807455 single base substitution G A intron_variant EOPC-DE 13 111834348 111834348 single base substitution C T intron_variant EOPC-DE 13 111834348 111834348 single base substitution C T upstream_gene_variant EOPC-DE 13 111835718 111835718 single base substitution C T intron_variant EOPC-DE 13 111835718 111835718 single base substitution C T upstream_gene_variant EOPC-DE 13 111840582 111840582 single base substitution A C intron_variant EOPC-DE 13 111909706 111909706 single base substitution C T intron_variant EOPC-DE 13 111953759 111953759 single base substitution A T intron_variant EOPC-DE 13 111958943 111958943 single base substitution C G downstream_gene_variant EOPC-DE 13 111962462 111962462 single base substitution T C downstream_gene_variant ESAD-UK 13 111762793 111762793 single base substitution C T upstream_gene_variant ESAD-UK 13 111763281 111763281 single base substitution G T upstream_gene_variant ESAD-UK 13 111764739 111764739 single base substitution T C upstream_gene_variant ESAD-UK 13 111768013 111768013 single base substitution G A 5_prime_UTR_variant ESAD-UK 13 111768013 111768013 single base substitution G A exon_variant ESAD-UK 13 111768013 111768013 single base substitution G A intron_variant ESAD-UK 13 111768013 111768013 single base substitution G A missense_variant R47H 140G>A ESAD-UK 13 111768105 111768105 single base substitution G A intron_variant ESAD-UK 13 111769889 111769889 single base substitution C G downstream_gene_variant ESAD-UK 13 111769889 111769889 single base substitution C G intron_variant ESAD-UK 13 111771086 111771086 single base substitution C T downstream_gene_variant ESAD-UK 13 111771086 111771086 single base substitution C T intron_variant ESAD-UK 13 111771962 111771962 single base substitution G A downstream_gene_variant ESAD-UK 13 111771962 111771962 single base substitution G A intron_variant ESAD-UK 13 111777255 111777255 single base substitution C T intron_variant ESAD-UK 13 111777477 111777477 single base substitution T G intron_variant ESAD-UK 13 111779020 111779020 single base substitution G C intron_variant ESAD-UK 13 111779421 111779421 single base substitution C T intron_variant ESAD-UK 13 111782165 111782165 single base substitution G A intron_variant ESAD-UK 13 111783091 111783091 single base substitution G T intron_variant ESAD-UK 13 111783830 111783830 single base substitution G A intron_variant ESAD-UK 13 111783971 111783971 single base substitution C T intron_variant ESAD-UK 13 111784322 111784322 single base substitution G C intron_variant ESAD-UK 13 111785094 111785094 single base substitution A C intron_variant ESAD-UK 13 111785160 111785160 single base substitution T G intron_variant ESAD-UK 13 111785548 111785548 single base substitution G A intron_variant ESAD-UK 13 111787426 111787426 single base substitution T C intron_variant ESAD-UK 13 111789647 111789647 single base substitution G A intron_variant ESAD-UK 13 111791101 111791101 single base substitution A C intron_variant ESAD-UK 13 111791777 111791777 single base substitution C T intron_variant ESAD-UK 13 111791829 111791829 single base substitution T C intron_variant ESAD-UK 13 111792489 111792489 single base substitution C A intron_variant ESAD-UK 13 111793026 111793026 deletion of <=200bp T - intron_variant ESAD-UK 13 111794951 111794951 single base substitution A G intron_variant ESAD-UK 13 111795474 111795474 single base substitution C T intron_variant ESAD-UK 13 111797391 111797391 single base substitution T A intron_variant ESAD-UK 13 111797392 111797392 single base substitution A T intron_variant ESAD-UK 13 111797985 111797985 single base substitution C T intron_variant ESAD-UK 13 111798356 111798356 single base substitution G A intron_variant ESAD-UK 13 111798450 111798450 single base substitution A G intron_variant ESAD-UK 13 111799028 111799028 single base substitution A C intron_variant ESAD-UK 13 111800715 111800715 single base substitution C A intron_variant ESAD-UK 13 111802164 111802164 single base substitution T C intron_variant ESAD-UK 13 111802164 111802164 single base substitution T C upstream_gene_variant ESAD-UK 13 111804153 111804153 single base substitution C T intron_variant ESAD-UK 13 111804153 111804153 single base substitution C T upstream_gene_variant ESAD-UK 13 111805775 111805775 single base substitution G A intron_variant ESAD-UK 13 111805775 111805775 single base substitution G A upstream_gene_variant ESAD-UK 13 111811429 111811429 single base substitution C T intron_variant ESAD-UK 13 111811429 111811429 single base substitution C T missense_variant S103F 308C>T ESAD-UK 13 111814266 111814266 single base substitution C T intron_variant ESAD-UK 13 111818641 111818641 single base substitution C G intron_variant ESAD-UK 13 111822871 111822871 single base substitution T G intron_variant ESAD-UK 13 111825704 111825704 single base substitution T C intron_variant ESAD-UK 13 111826001 111826001 single base substitution T C intron_variant ESAD-UK 13 111826067 111826067 single base substitution C G intron_variant ESAD-UK 13 111826135 111826135 single base substitution G A intron_variant ESAD-UK 13 111829628 111829628 single base substitution C T intron_variant ESAD-UK 13 111830078 111830078 single base substitution C T intron_variant ESAD-UK 13 111834835 111834835 single base substitution C T intron_variant ESAD-UK 13 111834835 111834835 single base substitution C T upstream_gene_variant ESAD-UK 13 111835255 111835255 single base substitution C T intron_variant ESAD-UK 13 111835255 111835255 single base substitution C T upstream_gene_variant ESAD-UK 13 111837405 111837405 single base substitution G A 5_prime_UTR_variant ESAD-UK 13 111837405 111837405 single base substitution G A intron_variant ESAD-UK 13 111837405 111837405 single base substitution G A upstream_gene_variant ESAD-UK 13 111839448 111839448 single base substitution G A intron_variant ESAD-UK 13 111839683 111839683 single base substitution T C intron_variant ESAD-UK 13 111840578 111840578 single base substitution C T intron_variant ESAD-UK 13 111845873 111845873 single base substitution A G intron_variant ESAD-UK 13 111848975 111848975 single base substitution G A intron_variant ESAD-UK 13 111849426 111849426 single base substitution G A intron_variant ESAD-UK 13 111849508 111849508 single base substitution C T intron_variant ESAD-UK 13 111849509 111849509 single base substitution G A intron_variant ESAD-UK 13 111849732 111849732 single base substitution C T intron_variant ESAD-UK 13 111851050 111851050 single base substitution A C intron_variant ESAD-UK 13 111851050 111851050 single base substitution A C upstream_gene_variant ESAD-UK 13 111851104 111851104 single base substitution T C intron_variant ESAD-UK 13 111851104 111851104 single base substitution T C upstream_gene_variant ESAD-UK 13 111851752 111851752 single base substitution C A intron_variant ESAD-UK 13 111851752 111851752 single base substitution C A upstream_gene_variant ESAD-UK 13 111851930 111851930 single base substitution T C intron_variant ESAD-UK 13 111851930 111851930 single base substitution T C upstream_gene_variant ESAD-UK 13 111854219 111854219 single base substitution C T intron_variant ESAD-UK 13 111854219 111854219 single base substitution C T upstream_gene_variant ESAD-UK 13 111856203 111856203 single base substitution G A intron_variant ESAD-UK 13 111856203 111856203 single base substitution G A upstream_gene_variant ESAD-UK 13 111860631 111860631 single base substitution C A intron_variant ESAD-UK 13 111862081 111862081 single base substitution C T intron_variant ESAD-UK 13 111863058 111863058 single base substitution C T intron_variant ESAD-UK 13 111863598 111863598 single base substitution C T intron_variant ESAD-UK 13 111863814 111863814 deletion of <=200bp G - intron_variant ESAD-UK 13 111865483 111865483 single base substitution C T intron_variant ESAD-UK 13 111865616 111865616 single base substitution G A intron_variant ESAD-UK 13 111867200 111867200 single base substitution A G intron_variant ESAD-UK 13 111867936 111867944 deletion of <=200bp TGACTGTTC - intron_variant ESAD-UK 13 111867987 111867990 deletion of <=200bp TTTC - intron_variant ESAD-UK 13 111869912 111869912 single base substitution T C intron_variant ESAD-UK 13 111872559 111872559 single base substitution G A downstream_gene_variant ESAD-UK 13 111872559 111872559 single base substitution G A intron_variant ESAD-UK 13 111873237 111873237 single base substitution G C downstream_gene_variant ESAD-UK 13 111873237 111873237 single base substitution G C intron_variant ESAD-UK 13 111873776 111873781 deletion of <=200bp ATATAG - downstream_gene_variant ESAD-UK 13 111873776 111873781 deletion of <=200bp ATATAG - intron_variant ESAD-UK 13 111875722 111875722 single base substitution A T intron_variant ESAD-UK 13 111877048 111877048 single base substitution G A intron_variant ESAD-UK 13 111879508 111879508 single base substitution C T intron_variant ESAD-UK 13 111883403 111883403 single base substitution T G intron_variant ESAD-UK 13 111885035 111885035 single base substitution C G intron_variant ESAD-UK 13 111886491 111886491 single base substitution C T intron_variant ESAD-UK 13 111888319 111888319 single base substitution T A intron_variant ESAD-UK 13 111889543 111889543 single base substitution T C intron_variant ESAD-UK 13 111889543 111889543 single base substitution T C upstream_gene_variant ESAD-UK 13 111890263 111890263 single base substitution A C intron_variant ESAD-UK 13 111890263 111890263 single base substitution A C upstream_gene_variant ESAD-UK 13 111891051 111891051 single base substitution T G intron_variant ESAD-UK 13 111891051 111891051 single base substitution T G upstream_gene_variant ESAD-UK 13 111891881 111891881 single base substitution C G intron_variant ESAD-UK 13 111891881 111891881 single base substitution C G upstream_gene_variant ESAD-UK 13 111895804 111895804 single base substitution C T intron_variant ESAD-UK 13 111897626 111897626 single base substitution T G intron_variant ESAD-UK 13 111898009 111898009 single base substitution T G intron_variant ESAD-UK 13 111898281 111898281 single base substitution C A intron_variant ESAD-UK 13 111898996 111898996 single base substitution C T intron_variant ESAD-UK 13 111899326 111899326 single base substitution G A intron_variant ESAD-UK 13 111901127 111901127 single base substitution A T intron_variant ESAD-UK 13 111901136 111901136 single base substitution A G intron_variant ESAD-UK 13 111902170 111902170 single base substitution A G intron_variant ESAD-UK 13 111902346 111902346 single base substitution T G intron_variant ESAD-UK 13 111904069 111904069 single base substitution G A intron_variant ESAD-UK 13 111905520 111905520 single base substitution A G intron_variant ESAD-UK 13 111906569 111906569 single base substitution C A intron_variant ESAD-UK 13 111907966 111907966 single base substitution G A intron_variant ESAD-UK 13 111908071 111908071 single base substitution G T intron_variant ESAD-UK 13 111911823 111911823 single base substitution T A intron_variant ESAD-UK 13 111915044 111915044 single base substitution T A intron_variant ESAD-UK 13 111916268 111916269 deletion of <=200bp TG - intron_variant ESAD-UK 13 111916620 111916620 insertion of <=200bp - TAGCCTC intron_variant ESAD-UK 13 111916697 111916697 single base substitution T A intron_variant ESAD-UK 13 111917084 111917084 single base substitution C T intron_variant ESAD-UK 13 111917379 111917379 single base substitution G T intron_variant ESAD-UK 13 111918896 111918896 deletion of <=200bp T - intron_variant ESAD-UK 13 111920739 111920739 deletion of <=200bp A - intron_variant ESAD-UK 13 111920974 111920974 single base substitution G C intron_variant ESAD-UK 13 111923429 111923429 single base substitution T C intron_variant ESAD-UK 13 111923715 111923715 single base substitution A C intron_variant ESAD-UK 13 111923808 111923808 single base substitution G T intron_variant ESAD-UK 13 111924985 111924985 single base substitution G C intron_variant ESAD-UK 13 111928646 111928646 single base substitution A G downstream_gene_variant ESAD-UK 13 111928646 111928646 single base substitution A G intron_variant ESAD-UK 13 111929438 111929438 single base substitution A C downstream_gene_variant ESAD-UK 13 111929438 111929438 single base substitution A C intron_variant ESAD-UK 13 111929611 111929611 single base substitution A G downstream_gene_variant ESAD-UK 13 111929611 111929611 single base substitution A G intron_variant ESAD-UK 13 111929692 111929692 single base substitution T C downstream_gene_variant ESAD-UK 13 111929692 111929692 single base substitution T C intron_variant ESAD-UK 13 111930419 111930419 single base substitution C T downstream_gene_variant ESAD-UK 13 111930419 111930419 single base substitution C T intron_variant ESAD-UK 13 111930419 111930419 single base substitution C T upstream_gene_variant ESAD-UK 13 111935230 111935230 single base substitution G A exon_variant ESAD-UK 13 111935230 111935230 single base substitution G A intron_variant ESAD-UK 13 111936309 111936309 single base substitution A G downstream_gene_variant ESAD-UK 13 111936309 111936309 single base substitution A G intron_variant ESAD-UK 13 111937344 111937344 single base substitution A T downstream_gene_variant ESAD-UK 13 111937344 111937344 single base substitution A T intron_variant ESAD-UK 13 111938040 111938040 single base substitution A T downstream_gene_variant ESAD-UK 13 111938040 111938040 single base substitution A T intron_variant ESAD-UK 13 111938550 111938550 single base substitution A T downstream_gene_variant ESAD-UK 13 111938550 111938550 single base substitution A T exon_variant ESAD-UK 13 111938550 111938550 single base substitution A T missense_variant E434D 1302A>T ESAD-UK 13 111938550 111938550 single base substitution A T missense_variant E512D 1536A>T ESAD-UK 13 111938550 111938550 single base substitution A T missense_variant E587D 1761A>T ESAD-UK 13 111938550 111938550 single base substitution A T missense_variant E597D 1791A>T ESAD-UK 13 111938550 111938550 single base substitution A T missense_variant E640D 1920A>T ESAD-UK 13 111938550 111938550 single base substitution A T missense_variant E669D 2007A>T ESAD-UK 13 111938550 111938550 single base substitution A T missense_variant E690D 2070A>T ESAD-UK 13 111938749 111938749 single base substitution C T downstream_gene_variant ESAD-UK 13 111938749 111938749 single base substitution C T intron_variant ESAD-UK 13 111938804 111938804 single base substitution C T downstream_gene_variant ESAD-UK 13 111938804 111938804 single base substitution C T intron_variant ESAD-UK 13 111939647 111939647 single base substitution T A downstream_gene_variant ESAD-UK 13 111939647 111939647 single base substitution T A intron_variant ESAD-UK 13 111940438 111940438 single base substitution C T downstream_gene_variant ESAD-UK 13 111940438 111940438 single base substitution C T intron_variant ESAD-UK 13 111940581 111940581 single base substitution C T downstream_gene_variant ESAD-UK 13 111940581 111940581 single base substitution C T intron_variant ESAD-UK 13 111941007 111941007 single base substitution G A downstream_gene_variant ESAD-UK 13 111941007 111941007 single base substitution G A intron_variant ESAD-UK 13 111941830 111941830 single base substitution C T downstream_gene_variant ESAD-UK 13 111941830 111941830 single base substitution C T intron_variant ESAD-UK 13 111944927 111944929 deletion of <=200bp GTT - 3_prime_UTR_variant ESAD-UK 13 111944927 111944929 deletion of <=200bp GTT - downstream_gene_variant ESAD-UK 13 111944927 111944929 deletion of <=200bp GTT - intron_variant ESAD-UK 13 111953450 111953450 single base substitution C T intron_variant ESAD-UK 13 111953724 111953724 single base substitution C T intron_variant ESAD-UK 13 111953905 111953905 insertion of <=200bp - T intron_variant ESAD-UK 13 111954903 111954903 single base substitution A T intron_variant ESAD-UK 13 111956088 111956088 single base substitution G A 3_prime_UTR_variant ESAD-UK 13 111956088 111956088 single base substitution G A downstream_gene_variant ESAD-UK 13 111957117 111957117 single base substitution C A 3_prime_UTR_variant ESAD-UK 13 111957117 111957117 single base substitution C A downstream_gene_variant ESCA-CN 13 111768923 111768923 single base substitution T G downstream_gene_variant ESCA-CN 13 111768923 111768923 single base substitution T G intron_variant ESCA-CN 13 111932598 111932598 single base substitution G T downstream_gene_variant ESCA-CN 13 111932598 111932598 single base substitution G T intron_variant ESCA-CN 13 111932598 111932598 single base substitution G T upstream_gene_variant ESCA-CN 13 111935663 111935663 single base substitution C T downstream_gene_variant ESCA-CN 13 111935663 111935663 single base substitution C T exon_variant ESCA-CN 13 111935663 111935663 single base substitution C T missense_variant R400W 1198C>T ESCA-CN 13 111935663 111935663 single base substitution C T missense_variant R478W 1432C>T ESCA-CN 13 111935663 111935663 single base substitution C T missense_variant R553W 1657C>T ESCA-CN 13 111935663 111935663 single base substitution C T missense_variant R563W 1687C>T ESCA-CN 13 111935663 111935663 single base substitution C T missense_variant R606W 1816C>T ESCA-CN 13 111935663 111935663 single base substitution C T missense_variant R635W 1903C>T ESCA-CN 13 111935663 111935663 single base substitution C T missense_variant R656W 1966C>T GBM-US 13 111870210 111870210 single base substitution G A 5_prime_UTR_variant GBM-US 13 111870210 111870210 single base substitution G A downstream_gene_variant GBM-US 13 111870210 111870210 single base substitution G A exon_variant GBM-US 13 111870210 111870210 single base substitution G A missense_variant R136H 407G>A GBM-US 13 111870210 111870210 single base substitution G A missense_variant R146H 437G>A GBM-US 13 111870210 111870210 single base substitution G A missense_variant R189H 566G>A GBM-US 13 111870210 111870210 single base substitution G A missense_variant R218H 653G>A GBM-US 13 111870210 111870210 single base substitution G A missense_variant R239H 716G>A GBM-US 13 111870210 111870210 single base substitution G A missense_variant R61H 182G>A GBM-US 13 111896312 111896315 deletion of <=200bp AAGT - frameshift_variant K128 GBM-US 13 111896312 111896315 deletion of <=200bp AAGT - frameshift_variant K203 GBM-US 13 111896312 111896315 deletion of <=200bp AAGT - frameshift_variant K213 GBM-US 13 111896312 111896315 deletion of <=200bp AAGT - frameshift_variant K256 GBM-US 13 111896312 111896315 deletion of <=200bp AAGT - frameshift_variant K285 GBM-US 13 111896312 111896315 deletion of <=200bp AAGT - frameshift_variant K306 GBM-US 13 111896312 111896315 deletion of <=200bp AAGT - frameshift_variant K50 GBM-US 13 111896312 111896315 deletion of <=200bp AAGT - intron_variant GBM-US 13 111896312 111896315 deletion of <=200bp AAGT - splice_donor_variant KIRC-US 13 111932908 111932908 single base substitution G T 3_prime_UTR_variant KIRC-US 13 111932908 111932908 single base substitution G T downstream_gene_variant KIRC-US 13 111932908 111932908 single base substitution G T missense_variant V302L 904G>T KIRC-US 13 111932908 111932908 single base substitution G T missense_variant V380L 1138G>T KIRC-US 13 111932908 111932908 single base substitution G T missense_variant V455L 1363G>T KIRC-US 13 111932908 111932908 single base substitution G T missense_variant V465L 1393G>T KIRC-US 13 111932908 111932908 single base substitution G T missense_variant V508L 1522G>T KIRC-US 13 111932908 111932908 single base substitution G T missense_variant V537L 1609G>T KIRC-US 13 111932908 111932908 single base substitution G T missense_variant V558L 1672G>T KIRC-US 13 111932908 111932908 single base substitution G T upstream_gene_variant KIRC-US 13 111944499 111944499 insertion of <=200bp - T frameshift_variant V488V? KIRC-US 13 111944499 111944499 insertion of <=200bp - T frameshift_variant V566V? KIRC-US 13 111944499 111944499 insertion of <=200bp - T frameshift_variant V694V? KIRC-US 13 111944499 111944499 insertion of <=200bp - T frameshift_variant V723V? KIRC-US 13 111944499 111944499 insertion of <=200bp - T frameshift_variant V744V? KIRC-US 13 111944499 111944499 insertion of <=200bp - T intron_variant KIRC-US 13 111953859 111953859 single base substitution G A missense_variant E600K 1798G>A KIRC-US 13 111953859 111953859 single base substitution G A missense_variant E659K 1975G>A KIRC-US 13 111953859 111953859 single base substitution G A missense_variant E675K 2023G>A KIRC-US 13 111953859 111953859 single base substitution G A missense_variant E685K 2053G>A KIRP-US 13 111885553 111885553 single base substitution G A splice_region_variant LAML-KR 13 111787012 111787012 single base substitution T A intron_variant LAML-KR 13 111960200 111960200 single base substitution C T downstream_gene_variant LAML-KR 13 111960248 111960248 single base substitution C T downstream_gene_variant LAML-KR 13 111960338 111960338 single base substitution A G downstream_gene_variant LAML-KR 13 111960355 111960355 single base substitution G A downstream_gene_variant LICA-CN 13 111806283 111806283 single base substitution G T 5_prime_UTR_variant LICA-CN 13 111806283 111806283 single base substitution G T exon_variant LICA-CN 13 111806283 111806283 single base substitution G T intron_variant LICA-CN 13 111806283 111806283 single base substitution G T missense_variant C66F 197G>T LICA-FR 13 111764801 111764801 single base substitution A G upstream_gene_variant LICA-FR 13 111764823 111764823 single base substitution C A upstream_gene_variant LICA-FR 13 111789617 111789617 single base substitution T G intron_variant LICA-FR 13 111791965 111791965 single base substitution C T intron_variant LICA-FR 13 111815764 111815764 single base substitution C T intron_variant LICA-FR 13 111842808 111842808 single base substitution T C intron_variant LICA-FR 13 111842816 111842816 single base substitution G A intron_variant LICA-FR 13 111844564 111844564 single base substitution G C intron_variant LICA-FR 13 111844592 111844592 single base substitution T C intron_variant LICA-FR 13 111854459 111854459 single base substitution G A intron_variant LICA-FR 13 111854459 111854459 single base substitution G A upstream_gene_variant LICA-FR 13 111883525 111883525 single base substitution C T intron_variant LICA-FR 13 111886056 111886056 single base substitution A G intron_variant LICA-FR 13 111890040 111890040 single base substitution G A intron_variant LICA-FR 13 111890040 111890040 single base substitution G A upstream_gene_variant LICA-FR 13 111908863 111908863 single base substitution C G intron_variant LICA-FR 13 111934939 111934939 single base substitution A G intron_variant LICA-FR 13 111934939 111934939 single base substitution A G upstream_gene_variant LICA-FR 13 111945784 111945785 deletion of <=200bp AA - 3_prime_UTR_variant LICA-FR 13 111945784 111945785 deletion of <=200bp AA - downstream_gene_variant LICA-FR 13 111945784 111945785 deletion of <=200bp AA - intron_variant LICA-FR 13 111947342 111947342 single base substitution C T 3_prime_UTR_variant LICA-FR 13 111947342 111947342 single base substitution C T downstream_gene_variant LICA-FR 13 111947342 111947342 single base substitution C T intron_variant LICA-FR 13 111960168 111960168 single base substitution C T downstream_gene_variant LIHC-US 13 111811416 111811416 single base substitution A G intron_variant LIHC-US 13 111811416 111811416 single base substitution A G missense_variant T99A 295A>G LIHC-US 13 111927941 111927941 single base substitution C A 3_prime_UTR_variant LIHC-US 13 111927941 111927941 single base substitution C A exon_variant LIHC-US 13 111927941 111927941 single base substitution C A synonymous_variant I122I 366C>A LIHC-US 13 111927941 111927941 single base substitution C A synonymous_variant I210I 630C>A LIHC-US 13 111927941 111927941 single base substitution C A synonymous_variant I288I 864C>A LIHC-US 13 111927941 111927941 single base substitution C A synonymous_variant I363I 1089C>A LIHC-US 13 111927941 111927941 single base substitution C A synonymous_variant I373I 1119C>A LIHC-US 13 111927941 111927941 single base substitution C A synonymous_variant I416I 1248C>A LIHC-US 13 111927941 111927941 single base substitution C A synonymous_variant I445I 1335C>A LIHC-US 13 111927941 111927941 single base substitution C A synonymous_variant I466I 1398C>A LIHC-US 13 111932983 111932983 single base substitution G A 3_prime_UTR_variant LIHC-US 13 111932983 111932983 single base substitution G A downstream_gene_variant LIHC-US 13 111932983 111932983 single base substitution G A missense_variant G327R 979G>A LIHC-US 13 111932983 111932983 single base substitution G A missense_variant G405R 1213G>A LIHC-US 13 111932983 111932983 single base substitution G A missense_variant G480R 1438G>A LIHC-US 13 111932983 111932983 single base substitution G A missense_variant G490R 1468G>A LIHC-US 13 111932983 111932983 single base substitution G A missense_variant G533R 1597G>A LIHC-US 13 111932983 111932983 single base substitution G A missense_variant G562R 1684G>A LIHC-US 13 111932983 111932983 single base substitution G A missense_variant G583R 1747G>A LIHC-US 13 111932983 111932983 single base substitution G A upstream_gene_variant LIHC-US 13 111938504 111938504 single base substitution A G downstream_gene_variant LIHC-US 13 111938504 111938504 single base substitution A G exon_variant LIHC-US 13 111938504 111938504 single base substitution A G missense_variant K419R 1256A>G LIHC-US 13 111938504 111938504 single base substitution A G missense_variant K497R 1490A>G LIHC-US 13 111938504 111938504 single base substitution A G missense_variant K572R 1715A>G LIHC-US 13 111938504 111938504 single base substitution A G missense_variant K582R 1745A>G LIHC-US 13 111938504 111938504 single base substitution A G missense_variant K625R 1874A>G LIHC-US 13 111938504 111938504 single base substitution A G missense_variant K654R 1961A>G LIHC-US 13 111938504 111938504 single base substitution A G missense_variant K675R 2024A>G LINC-JP 13 111769011 111769011 single base substitution G C downstream_gene_variant LINC-JP 13 111769011 111769011 single base substitution G C intron_variant LINC-JP 13 111777195 111777195 single base substitution C T intron_variant LINC-JP 13 111794712 111794712 single base substitution T C intron_variant LINC-JP 13 111800575 111800575 single base substitution T C intron_variant LINC-JP 13 111831315 111831315 single base substitution T C intron_variant LINC-JP 13 111834798 111834798 single base substitution C A intron_variant LINC-JP 13 111834798 111834798 single base substitution C A upstream_gene_variant LINC-JP 13 111837358 111837358 deletion of <=200bp T - 5_prime_UTR_variant LINC-JP 13 111837358 111837358 deletion of <=200bp T - intron_variant LINC-JP 13 111837358 111837358 deletion of <=200bp T - upstream_gene_variant LINC-JP 13 111842463 111842463 single base substitution A G intron_variant LINC-JP 13 111847780 111847780 single base substitution A G intron_variant LINC-JP 13 111848432 111848432 single base substitution A G intron_variant LINC-JP 13 111855487 111855487 single base substitution A G intron_variant LINC-JP 13 111855487 111855487 single base substitution A G upstream_gene_variant LINC-JP 13 111857567 111857567 single base substitution G A intron_variant LINC-JP 13 111857567 111857567 single base substitution G A upstream_gene_variant LINC-JP 13 111858448 111858448 deletion of <=200bp T - intron_variant LINC-JP 13 111874057 111874057 insertion of <=200bp - TATC downstream_gene_variant LINC-JP 13 111874057 111874057 insertion of <=200bp - TATC intron_variant LINC-JP 13 111889365 111889365 single base substitution T A intron_variant LINC-JP 13 111889365 111889365 single base substitution T A upstream_gene_variant LINC-JP 13 111893773 111893773 deletion of <=200bp C - intron_variant LINC-JP 13 111896519 111896519 single base substitution G C intron_variant LINC-JP 13 111905137 111905137 single base substitution C T intron_variant LINC-JP 13 111906804 111906804 single base substitution G C intron_variant LINC-JP 13 111908585 111908585 single base substitution A G intron_variant LINC-JP 13 111916336 111916336 single base substitution A G intron_variant LINC-JP 13 111917785 111917785 single base substitution C T intron_variant LINC-JP 13 111924401 111924401 single base substitution C T intron_variant LINC-JP 13 111924641 111924641 single base substitution C T intron_variant LINC-JP 13 111928044 111928046 deletion of <=200bp ACG - exon_variant LINC-JP 13 111928044 111928046 deletion of <=200bp ACG - intron_variant LINC-JP 13 111932431 111932431 single base substitution T A downstream_gene_variant LINC-JP 13 111932431 111932431 single base substitution T A intron_variant LINC-JP 13 111932431 111932431 single base substitution T A upstream_gene_variant LINC-JP 13 111940091 111940091 single base substitution G A downstream_gene_variant LINC-JP 13 111940091 111940091 single base substitution G A intron_variant LINC-JP 13 111940555 111940555 single base substitution A C downstream_gene_variant LINC-JP 13 111940555 111940555 single base substitution A C intron_variant LINC-JP 13 111940724 111940724 single base substitution G T downstream_gene_variant LINC-JP 13 111940724 111940724 single base substitution G T missense_variant A455S 1363G>T LINC-JP 13 111940724 111940724 single base substitution G T missense_variant A533S 1597G>T LINC-JP 13 111940724 111940724 single base substitution G T missense_variant A608S 1822G>T LINC-JP 13 111940724 111940724 single base substitution G T missense_variant A618S 1852G>T LINC-JP 13 111940724 111940724 single base substitution G T missense_variant A661S 1981G>T LINC-JP 13 111940724 111940724 single base substitution G T missense_variant A690S 2068G>T LINC-JP 13 111940724 111940724 single base substitution G T missense_variant A711S 2131G>T LINC-JP 13 111942670 111942670 single base substitution A G downstream_gene_variant LINC-JP 13 111942670 111942670 single base substitution A G intron_variant LINC-JP 13 111953873 111953873 single base substitution A G synonymous_variant L604L 1812A>G LINC-JP 13 111953873 111953873 single base substitution A G synonymous_variant L663L 1989A>G LINC-JP 13 111953873 111953873 single base substitution A G synonymous_variant L679L 2037A>G LINC-JP 13 111953873 111953873 single base substitution A G synonymous_variant L689L 2067A>G LIRI-JP 13 111762236 111762236 single base substitution G T upstream_gene_variant LIRI-JP 13 111763624 111763624 single base substitution A G upstream_gene_variant LIRI-JP 13 111766816 111766816 single base substitution G T upstream_gene_variant LIRI-JP 13 111769913 111769913 single base substitution G C downstream_gene_variant LIRI-JP 13 111769913 111769913 single base substitution G C intron_variant LIRI-JP 13 111773812 111773812 single base substitution A G downstream_gene_variant LIRI-JP 13 111773812 111773812 single base substitution A G intron_variant LIRI-JP 13 111773973 111773973 single base substitution A G intron_variant LIRI-JP 13 111774996 111774996 single base substitution C A intron_variant LIRI-JP 13 111775433 111775433 single base substitution C T intron_variant LIRI-JP 13 111781720 111781720 single base substitution A G intron_variant LIRI-JP 13 111783001 111783001 single base substitution G T intron_variant LIRI-JP 13 111783388 111783388 single base substitution A G intron_variant LIRI-JP 13 111783692 111783692 single base substitution C T intron_variant LIRI-JP 13 111784049 111784049 single base substitution G T intron_variant LIRI-JP 13 111784917 111784917 single base substitution A T intron_variant LIRI-JP 13 111785975 111785975 single base substitution T C intron_variant LIRI-JP 13 111788560 111788560 single base substitution G T intron_variant LIRI-JP 13 111789867 111789867 single base substitution T C intron_variant LIRI-JP 13 111789920 111789920 single base substitution A G intron_variant LIRI-JP 13 111790378 111790378 single base substitution G T intron_variant LIRI-JP 13 111790606 111790606 single base substitution G T intron_variant LIRI-JP 13 111790653 111790653 single base substitution T C intron_variant LIRI-JP 13 111791796 111791796 single base substitution G C intron_variant LIRI-JP 13 111794733 111794733 deletion of <=200bp G - intron_variant LIRI-JP 13 111794997 111794997 single base substitution C T intron_variant LIRI-JP 13 111795316 111795316 single base substitution T C intron_variant LIRI-JP 13 111796316 111796316 single base substitution C T intron_variant LIRI-JP 13 111797862 111797862 single base substitution G A intron_variant LIRI-JP 13 111797868 111797868 single base substitution G A intron_variant LIRI-JP 13 111798157 111798157 single base substitution G A intron_variant LIRI-JP 13 111798394 111798394 single base substitution G T intron_variant LIRI-JP 13 111798738 111798738 single base substitution A G intron_variant LIRI-JP 13 111798775 111798775 single base substitution T G intron_variant LIRI-JP 13 111800804 111800804 single base substitution A C intron_variant LIRI-JP 13 111802488 111802488 single base substitution G A intron_variant LIRI-JP 13 111802488 111802488 single base substitution G A upstream_gene_variant LIRI-JP 13 111802610 111802610 single base substitution T C intron_variant LIRI-JP 13 111802610 111802610 single base substitution T C upstream_gene_variant LIRI-JP 13 111802935 111802935 single base substitution G C intron_variant LIRI-JP 13 111802935 111802935 single base substitution G C upstream_gene_variant LIRI-JP 13 111803055 111803055 single base substitution A T intron_variant LIRI-JP 13 111803055 111803055 single base substitution A T upstream_gene_variant LIRI-JP 13 111804831 111804831 single base substitution C A intron_variant LIRI-JP 13 111804831 111804831 single base substitution C A upstream_gene_variant LIRI-JP 13 111805911 111805911 single base substitution T C intron_variant LIRI-JP 13 111805911 111805911 single base substitution T C upstream_gene_variant LIRI-JP 13 111808864 111808864 insertion of <=200bp - A downstream_gene_variant LIRI-JP 13 111808864 111808864 insertion of <=200bp - A intron_variant LIRI-JP 13 111809167 111809167 single base substitution A T downstream_gene_variant LIRI-JP 13 111809167 111809167 single base substitution A T intron_variant LIRI-JP 13 111809765 111809765 single base substitution G T downstream_gene_variant LIRI-JP 13 111809765 111809765 single base substitution G T intron_variant LIRI-JP 13 111809766 111809766 single base substitution C T downstream_gene_variant LIRI-JP 13 111809766 111809766 single base substitution C T intron_variant LIRI-JP 13 111810749 111810749 single base substitution A G downstream_gene_variant LIRI-JP 13 111810749 111810749 single base substitution A G intron_variant LIRI-JP 13 111810802 111810802 single base substitution A C downstream_gene_variant LIRI-JP 13 111810802 111810802 single base substitution A C intron_variant LIRI-JP 13 111810934 111810934 single base substitution A G downstream_gene_variant LIRI-JP 13 111810934 111810934 single base substitution A G intron_variant LIRI-JP 13 111811534 111811534 single base substitution A T intron_variant LIRI-JP 13 111817076 111817076 single base substitution C T intron_variant LIRI-JP 13 111817134 111817134 single base substitution A T intron_variant LIRI-JP 13 111818094 111818094 single base substitution G A intron_variant LIRI-JP 13 111820385 111820385 single base substitution T A intron_variant LIRI-JP 13 111820557 111820557 single base substitution T A intron_variant LIRI-JP 13 111820919 111820919 single base substitution T G intron_variant LIRI-JP 13 111822014 111822014 single base substitution A G intron_variant LIRI-JP 13 111823204 111823204 single base substitution A G intron_variant LIRI-JP 13 111823408 111823408 single base substitution A G intron_variant LIRI-JP 13 111825448 111825452 deletion of <=200bp TTTAA - intron_variant LIRI-JP 13 111827202 111827202 single base substitution C T intron_variant LIRI-JP 13 111827501 111827501 single base substitution T C intron_variant LIRI-JP 13 111827877 111827877 single base substitution G A intron_variant LIRI-JP 13 111828034 111828034 single base substitution G A intron_variant LIRI-JP 13 111828525 111828525 single base substitution C A intron_variant LIRI-JP 13 111828750 111828750 single base substitution G A intron_variant LIRI-JP 13 111830686 111830686 single base substitution A G intron_variant LIRI-JP 13 111830814 111830814 single base substitution T A intron_variant LIRI-JP 13 111831502 111831502 single base substitution T A intron_variant LIRI-JP 13 111832158 111832158 single base substitution C A intron_variant LIRI-JP 13 111836173 111836173 single base substitution A G intron_variant LIRI-JP 13 111836173 111836173 single base substitution A G upstream_gene_variant LIRI-JP 13 111837024 111837024 single base substitution T G intron_variant LIRI-JP 13 111837024 111837024 single base substitution T G upstream_gene_variant LIRI-JP 13 111837492 111837492 single base substitution G T 5_prime_UTR_variant LIRI-JP 13 111837492 111837492 single base substitution G T intron_variant LIRI-JP 13 111837492 111837492 single base substitution G T upstream_gene_variant LIRI-JP 13 111838878 111838878 single base substitution A G intron_variant LIRI-JP 13 111838878 111838878 single base substitution A G upstream_gene_variant LIRI-JP 13 111839769 111839769 single base substitution G T intron_variant LIRI-JP 13 111839785 111839785 single base substitution C T intron_variant LIRI-JP 13 111841284 111841284 single base substitution C T intron_variant LIRI-JP 13 111846505 111846505 single base substitution A G intron_variant LIRI-JP 13 111847317 111847317 single base substitution C A intron_variant LIRI-JP 13 111847924 111847924 single base substitution G A intron_variant LIRI-JP 13 111848246 111848246 single base substitution C G intron_variant LIRI-JP 13 111849155 111849155 single base substitution A G intron_variant LIRI-JP 13 111851706 111851706 single base substitution T G intron_variant LIRI-JP 13 111851706 111851706 single base substitution T G upstream_gene_variant LIRI-JP 13 111851881 111851881 single base substitution C A intron_variant LIRI-JP 13 111851881 111851881 single base substitution C A upstream_gene_variant LIRI-JP 13 111851901 111851901 single base substitution A T intron_variant LIRI-JP 13 111851901 111851901 single base substitution A T upstream_gene_variant LIRI-JP 13 111853887 111853887 single base substitution A G intron_variant LIRI-JP 13 111853887 111853887 single base substitution A G upstream_gene_variant LIRI-JP 13 111854195 111854195 single base substitution G A intron_variant LIRI-JP 13 111854195 111854195 single base substitution G A upstream_gene_variant LIRI-JP 13 111855207 111855207 single base substitution A G intron_variant LIRI-JP 13 111855207 111855207 single base substitution A G upstream_gene_variant LIRI-JP 13 111855262 111855262 single base substitution G C intron_variant LIRI-JP 13 111855262 111855262 single base substitution G C upstream_gene_variant LIRI-JP 13 111858483 111858483 single base substitution A G intron_variant LIRI-JP 13 111860757 111860757 single base substitution G T intron_variant LIRI-JP 13 111861647 111861647 single base substitution A C 5_prime_UTR_variant LIRI-JP 13 111861647 111861647 single base substitution A C intron_variant LIRI-JP 13 111863798 111863798 single base substitution T A intron_variant LIRI-JP 13 111868310 111868310 single base substitution G A intron_variant LIRI-JP 13 111869298 111869298 single base substitution C A intron_variant LIRI-JP 13 111869846 111869846 single base substitution G T intron_variant LIRI-JP 13 111872671 111872671 single base substitution C T downstream_gene_variant LIRI-JP 13 111872671 111872671 single base substitution C T intron_variant LIRI-JP 13 111873259 111873259 single base substitution G A downstream_gene_variant LIRI-JP 13 111873259 111873259 single base substitution G A intron_variant LIRI-JP 13 111873323 111873323 single base substitution A G downstream_gene_variant LIRI-JP 13 111873323 111873323 single base substitution A G intron_variant LIRI-JP 13 111874381 111874381 single base substitution C T downstream_gene_variant LIRI-JP 13 111874381 111874381 single base substitution C T intron_variant LIRI-JP 13 111875759 111875759 single base substitution A T intron_variant LIRI-JP 13 111876664 111876664 single base substitution G C intron_variant LIRI-JP 13 111880946 111880946 single base substitution A C intron_variant LIRI-JP 13 111881135 111881135 single base substitution A T intron_variant LIRI-JP 13 111882619 111882619 single base substitution T G intron_variant LIRI-JP 13 111882664 111882664 single base substitution G T intron_variant LIRI-JP 13 111883291 111883291 single base substitution G A intron_variant LIRI-JP 13 111883541 111883541 single base substitution A G intron_variant LIRI-JP 13 111884079 111884079 single base substitution G A intron_variant LIRI-JP 13 111885017 111885017 single base substitution G A intron_variant LIRI-JP 13 111885037 111885037 single base substitution C A intron_variant LIRI-JP 13 111885046 111885046 single base substitution A T intron_variant LIRI-JP 13 111885502 111885502 single base substitution T C intron_variant LIRI-JP 13 111886155 111886155 single base substitution T C intron_variant LIRI-JP 13 111888684 111888684 single base substitution T A intron_variant LIRI-JP 13 111888684 111888684 single base substitution T A upstream_gene_variant LIRI-JP 13 111889012 111889012 single base substitution G C intron_variant LIRI-JP 13 111889012 111889012 single base substitution G C upstream_gene_variant LIRI-JP 13 111891846 111891846 single base substitution C T intron_variant LIRI-JP 13 111891846 111891846 single base substitution C T upstream_gene_variant LIRI-JP 13 111893700 111893700 single base substitution G T intron_variant LIRI-JP 13 111895707 111895707 single base substitution C T intron_variant LIRI-JP 13 111895708 111895708 single base substitution C T intron_variant LIRI-JP 13 111895755 111895755 single base substitution C T intron_variant LIRI-JP 13 111896465 111896465 single base substitution A G intron_variant LIRI-JP 13 111897154 111897154 single base substitution A G intron_variant LIRI-JP 13 111898263 111898263 single base substitution A G intron_variant LIRI-JP 13 111898278 111898278 single base substitution T A intron_variant LIRI-JP 13 111898398 111898398 single base substitution C T intron_variant LIRI-JP 13 111898472 111898472 single base substitution A G intron_variant LIRI-JP 13 111898625 111898625 single base substitution A G intron_variant LIRI-JP 13 111904597 111904597 single base substitution G T intron_variant LIRI-JP 13 111909254 111909254 single base substitution G T intron_variant LIRI-JP 13 111910980 111910980 single base substitution G T intron_variant LIRI-JP 13 111912313 111912313 single base substitution T C intron_variant LIRI-JP 13 111912726 111912726 single base substitution A G intron_variant LIRI-JP 13 111913048 111913048 single base substitution G T intron_variant LIRI-JP 13 111913774 111913774 single base substitution A G intron_variant LIRI-JP 13 111913801 111913801 single base substitution A G intron_variant LIRI-JP 13 111914907 111914907 single base substitution C T intron_variant LIRI-JP 13 111916463 111916463 insertion of <=200bp - T intron_variant LIRI-JP 13 111917350 111917350 single base substitution A T intron_variant LIRI-JP 13 111918568 111918568 single base substitution T C intron_variant LIRI-JP 13 111919010 111919010 single base substitution G T intron_variant LIRI-JP 13 111919179 111919179 single base substitution G A 3_prime_UTR_variant LIRI-JP 13 111919179 111919179 single base substitution G A intron_variant LIRI-JP 13 111919179 111919179 single base substitution G A missense_variant R22H 65G>A LIRI-JP 13 111919819 111919819 single base substitution A G intron_variant LIRI-JP 13 111922063 111922063 single base substitution G A intron_variant LIRI-JP 13 111927288 111927288 single base substitution C G intron_variant LIRI-JP 13 111927589 111927589 single base substitution G T intron_variant LIRI-JP 13 111931633 111931633 single base substitution C T downstream_gene_variant LIRI-JP 13 111931633 111931633 single base substitution C T intron_variant LIRI-JP 13 111931633 111931633 single base substitution C T upstream_gene_variant LIRI-JP 13 111933334 111933334 single base substitution A G downstream_gene_variant LIRI-JP 13 111933334 111933334 single base substitution A G intron_variant LIRI-JP 13 111933334 111933334 single base substitution A G upstream_gene_variant LIRI-JP 13 111933709 111933709 single base substitution A G intron_variant LIRI-JP 13 111933709 111933709 single base substitution A G upstream_gene_variant LIRI-JP 13 111935018 111935018 single base substitution A G intron_variant LIRI-JP 13 111935018 111935018 single base substitution A G upstream_gene_variant LIRI-JP 13 111936998 111936998 single base substitution C T downstream_gene_variant LIRI-JP 13 111936998 111936998 single base substitution C T intron_variant LIRI-JP 13 111938262 111938262 single base substitution T G downstream_gene_variant LIRI-JP 13 111938262 111938262 single base substitution T G intron_variant LIRI-JP 13 111940642 111940642 single base substitution C T downstream_gene_variant LIRI-JP 13 111940642 111940642 single base substitution C T intron_variant LIRI-JP 13 111940688 111940688 single base substitution C T downstream_gene_variant LIRI-JP 13 111940688 111940688 single base substitution C T intron_variant LIRI-JP 13 111941740 111941740 single base substitution G A downstream_gene_variant LIRI-JP 13 111941740 111941740 single base substitution G A intron_variant LIRI-JP 13 111941776 111941776 single base substitution C T downstream_gene_variant LIRI-JP 13 111941776 111941776 single base substitution C T intron_variant LIRI-JP 13 111941940 111941940 single base substitution C T downstream_gene_variant LIRI-JP 13 111941940 111941940 single base substitution C T intron_variant LIRI-JP 13 111942818 111942818 single base substitution A T downstream_gene_variant LIRI-JP 13 111942818 111942818 single base substitution A T intron_variant LIRI-JP 13 111948958 111948958 single base substitution A G downstream_gene_variant LIRI-JP 13 111948958 111948958 single base substitution A G intron_variant LIRI-JP 13 111949682 111949682 single base substitution A G downstream_gene_variant LIRI-JP 13 111949682 111949682 single base substitution A G intron_variant LIRI-JP 13 111951757 111951757 single base substitution T G downstream_gene_variant LIRI-JP 13 111951757 111951757 single base substitution T G intron_variant LIRI-JP 13 111953980 111953980 single base substitution C G intron_variant LIRI-JP 13 111954375 111954375 single base substitution G T intron_variant LIRI-JP 13 111954805 111954805 single base substitution G T intron_variant LIRI-JP 13 111954841 111954841 single base substitution C A intron_variant LIRI-JP 13 111954982 111954982 single base substitution C A intron_variant LIRI-JP 13 111955086 111955086 single base substitution A G intron_variant LIRI-JP 13 111957811 111957811 single base substitution A T 3_prime_UTR_variant LIRI-JP 13 111957811 111957811 single base substitution A T downstream_gene_variant LIRI-JP 13 111958288 111958288 deletion of <=200bp A - downstream_gene_variant LIRI-JP 13 111958587 111958587 single base substitution G A downstream_gene_variant LIRI-JP 13 111961881 111961881 single base substitution A G downstream_gene_variant LIRI-JP 13 111962029 111962029 single base substitution A G downstream_gene_variant LUSC-CN 13 111935726 111935726 single base substitution C T downstream_gene_variant LUSC-CN 13 111935726 111935726 single base substitution C T intron_variant LUSC-KR 13 111765070 111765070 single base substitution T A upstream_gene_variant LUSC-KR 13 111769172 111769172 single base substitution T C downstream_gene_variant LUSC-KR 13 111769172 111769172 single base substitution T C intron_variant LUSC-KR 13 111771700 111771700 single base substitution C T downstream_gene_variant LUSC-KR 13 111771700 111771700 single base substitution C T intron_variant LUSC-KR 13 111771962 111771962 single base substitution G T downstream_gene_variant LUSC-KR 13 111771962 111771962 single base substitution G T intron_variant LUSC-KR 13 111774266 111774266 single base substitution G C intron_variant LUSC-KR 13 111776174 111776174 single base substitution G A intron_variant LUSC-KR 13 111777127 111777127 single base substitution G A intron_variant LUSC-KR 13 111777826 111777826 single base substitution G T intron_variant LUSC-KR 13 111778211 111778211 single base substitution G A intron_variant LUSC-KR 13 111780170 111780170 single base substitution C T intron_variant LUSC-KR 13 111783195 111783195 single base substitution G C intron_variant LUSC-KR 13 111783364 111783364 single base substitution C T intron_variant LUSC-KR 13 111786068 111786068 single base substitution T A intron_variant LUSC-KR 13 111786686 111786686 single base substitution C G intron_variant LUSC-KR 13 111786827 111786827 single base substitution C G intron_variant LUSC-KR 13 111787012 111787012 single base substitution T A intron_variant LUSC-KR 13 111787182 111787182 single base substitution T G intron_variant LUSC-KR 13 111787199 111787199 single base substitution T A intron_variant LUSC-KR 13 111788028 111788028 single base substitution T G intron_variant LUSC-KR 13 111788851 111788851 single base substitution T G intron_variant LUSC-KR 13 111789035 111789035 single base substitution G T intron_variant LUSC-KR 13 111797986 111797986 single base substitution G A intron_variant LUSC-KR 13 111798500 111798500 single base substitution G A intron_variant LUSC-KR 13 111798666 111798666 single base substitution A G intron_variant LUSC-KR 13 111798950 111798950 single base substitution G C intron_variant LUSC-KR 13 111810555 111810555 single base substitution G A downstream_gene_variant LUSC-KR 13 111810555 111810555 single base substitution G A intron_variant LUSC-KR 13 111810933 111810933 single base substitution A G downstream_gene_variant LUSC-KR 13 111810933 111810933 single base substitution A G intron_variant LUSC-KR 13 111811626 111811626 single base substitution C T intron_variant LUSC-KR 13 111814443 111814443 single base substitution A G intron_variant LUSC-KR 13 111818864 111818864 single base substitution G A intron_variant LUSC-KR 13 111826959 111826959 single base substitution A G intron_variant LUSC-KR 13 111827305 111827305 single base substitution G A intron_variant LUSC-KR 13 111828451 111828451 single base substitution G A intron_variant LUSC-KR 13 111830109 111830109 single base substitution A G intron_variant LUSC-KR 13 111831431 111831431 single base substitution T C intron_variant LUSC-KR 13 111831895 111831895 single base substitution G T intron_variant LUSC-KR 13 111836904 111836904 single base substitution G T intron_variant LUSC-KR 13 111836904 111836904 single base substitution G T upstream_gene_variant LUSC-KR 13 111838590 111838590 single base substitution C G intron_variant LUSC-KR 13 111838590 111838590 single base substitution C G upstream_gene_variant LUSC-KR 13 111847326 111847326 single base substitution G A intron_variant LUSC-KR 13 111847896 111847896 single base substitution C T intron_variant LUSC-KR 13 111857410 111857410 single base substitution G T intron_variant LUSC-KR 13 111857410 111857410 single base substitution G T upstream_gene_variant LUSC-KR 13 111865499 111865499 single base substitution A G intron_variant LUSC-KR 13 111868090 111868090 single base substitution C T intron_variant LUSC-KR 13 111868331 111868331 single base substitution G A intron_variant LUSC-KR 13 111872083 111872083 single base substitution G C downstream_gene_variant LUSC-KR 13 111872083 111872083 single base substitution G C intron_variant LUSC-KR 13 111877656 111877656 single base substitution G A intron_variant LUSC-KR 13 111880049 111880049 single base substitution C T intron_variant LUSC-KR 13 111889398 111889398 single base substitution G A intron_variant LUSC-KR 13 111889398 111889398 single base substitution G A upstream_gene_variant LUSC-KR 13 111891789 111891789 single base substitution A G intron_variant LUSC-KR 13 111891789 111891789 single base substitution A G upstream_gene_variant LUSC-KR 13 111892621 111892621 single base substitution G T intron_variant LUSC-KR 13 111892621 111892621 single base substitution G T upstream_gene_variant LUSC-KR 13 111899959 111899959 single base substitution A G intron_variant LUSC-KR 13 111906592 111906592 single base substitution G C intron_variant LUSC-KR 13 111906818 111906818 single base substitution A G intron_variant LUSC-KR 13 111907543 111907543 single base substitution G C intron_variant LUSC-KR 13 111908893 111908893 single base substitution T C intron_variant LUSC-KR 13 111915079 111915079 single base substitution G T intron_variant LUSC-KR 13 111916815 111916815 single base substitution C G intron_variant LUSC-KR 13 111929573 111929573 single base substitution A T downstream_gene_variant LUSC-KR 13 111929573 111929573 single base substitution A T intron_variant LUSC-KR 13 111931006 111931006 single base substitution G C downstream_gene_variant LUSC-KR 13 111931006 111931006 single base substitution G C intron_variant LUSC-KR 13 111931006 111931006 single base substitution G C upstream_gene_variant LUSC-KR 13 111931642 111931642 single base substitution C T downstream_gene_variant LUSC-KR 13 111931642 111931642 single base substitution C T intron_variant LUSC-KR 13 111931642 111931642 single base substitution C T upstream_gene_variant LUSC-KR 13 111941614 111941614 single base substitution C G downstream_gene_variant LUSC-KR 13 111941614 111941614 single base substitution C G intron_variant LUSC-KR 13 111942227 111942227 single base substitution C T downstream_gene_variant LUSC-KR 13 111942227 111942227 single base substitution C T intron_variant LUSC-KR 13 111949291 111949291 single base substitution G A downstream_gene_variant LUSC-KR 13 111949291 111949291 single base substitution G A intron_variant LUSC-KR 13 111953245 111953245 single base substitution G A intron_variant LUSC-KR 13 111953247 111953247 single base substitution A G intron_variant LUSC-KR 13 111954174 111954174 single base substitution G A intron_variant LUSC-KR 13 111955287 111955287 single base substitution C A intron_variant LUSC-KR 13 111960027 111960027 single base substitution T C downstream_gene_variant LUSC-KR 13 111960046 111960046 single base substitution T C downstream_gene_variant LUSC-KR 13 111960220 111960220 single base substitution G A downstream_gene_variant LUSC-KR 13 111960451 111960451 single base substitution A G downstream_gene_variant LUSC-KR 13 111961560 111961560 single base substitution C A downstream_gene_variant LUSC-KR 13 111962864 111962864 single base substitution A G downstream_gene_variant LUSC-US 13 111926211 111926211 single base substitution T C exon_variant LUSC-US 13 111926211 111926211 single base substitution T C intron_variant LUSC-US 13 111926211 111926211 single base substitution T C missense_variant I140T 419T>C LUSC-US 13 111926211 111926211 single base substitution T C missense_variant I218T 653T>C LUSC-US 13 111926211 111926211 single base substitution T C missense_variant I293T 878T>C LUSC-US 13 111926211 111926211 single base substitution T C missense_variant I303T 908T>C LUSC-US 13 111926211 111926211 single base substitution T C missense_variant I346T 1037T>C LUSC-US 13 111926211 111926211 single base substitution T C missense_variant I375T 1124T>C LUSC-US 13 111926211 111926211 single base substitution T C missense_variant I396T 1187T>C LUSC-US 13 111932896 111932896 single base substitution G T 3_prime_UTR_variant LUSC-US 13 111932896 111932896 single base substitution G T downstream_gene_variant LUSC-US 13 111932896 111932896 single base substitution G T stop_gained E298* 892G>T LUSC-US 13 111932896 111932896 single base substitution G T stop_gained E376* 1126G>T LUSC-US 13 111932896 111932896 single base substitution G T stop_gained E451* 1351G>T LUSC-US 13 111932896 111932896 single base substitution G T stop_gained E461* 1381G>T LUSC-US 13 111932896 111932896 single base substitution G T stop_gained E504* 1510G>T LUSC-US 13 111932896 111932896 single base substitution G T stop_gained E533* 1597G>T LUSC-US 13 111932896 111932896 single base substitution G T stop_gained E554* 1660G>T LUSC-US 13 111932896 111932896 single base substitution G T upstream_gene_variant LUSC-US 13 111944527 111944527 single base substitution G T intron_variant LUSC-US 13 111944527 111944527 single base substitution G T missense_variant D498Y 1492G>T LUSC-US 13 111944527 111944527 single base substitution G T missense_variant D576Y 1726G>T LUSC-US 13 111944527 111944527 single base substitution G T missense_variant D704Y 2110G>T LUSC-US 13 111944527 111944527 single base substitution G T missense_variant D733Y 2197G>T LUSC-US 13 111944527 111944527 single base substitution G T missense_variant D754Y 2260G>T MALY-DE 13 111784753 111784753 single base substitution G A intron_variant MALY-DE 13 111785460 111785460 single base substitution A C intron_variant MALY-DE 13 111785601 111785601 single base substitution T C intron_variant MALY-DE 13 111786111 111786130 deletion of <=200bp TATATATATATATATATATA - intron_variant MALY-DE 13 111801594 111801594 deletion of <=200bp A - intron_variant MALY-DE 13 111801594 111801594 deletion of <=200bp A - upstream_gene_variant MALY-DE 13 111801889 111801889 single base substitution C T intron_variant MALY-DE 13 111801889 111801889 single base substitution C T upstream_gene_variant MALY-DE 13 111804085 111804085 single base substitution T C intron_variant MALY-DE 13 111804085 111804085 single base substitution T C upstream_gene_variant MALY-DE 13 111805690 111805690 single base substitution T C intron_variant MALY-DE 13 111805690 111805690 single base substitution T C upstream_gene_variant MALY-DE 13 111805915 111805915 single base substitution C T intron_variant MALY-DE 13 111805915 111805915 single base substitution C T upstream_gene_variant MALY-DE 13 111826759 111826759 single base substitution A G intron_variant MALY-DE 13 111837308 111837308 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant MALY-DE 13 111837308 111837308 single base substitution A T intron_variant MALY-DE 13 111837308 111837308 single base substitution A T upstream_gene_variant MALY-DE 13 111837926 111837926 single base substitution C T intron_variant MALY-DE 13 111837926 111837926 single base substitution C T upstream_gene_variant MALY-DE 13 111844718 111844718 insertion of <=200bp - T intron_variant MALY-DE 13 111852910 111852910 single base substitution C T intron_variant MALY-DE 13 111852910 111852910 single base substitution C T upstream_gene_variant MALY-DE 13 111854767 111854767 single base substitution T C intron_variant MALY-DE 13 111854767 111854767 single base substitution T C upstream_gene_variant MALY-DE 13 111868431 111868431 single base substitution T C intron_variant MALY-DE 13 111881901 111881901 single base substitution T G intron_variant MALY-DE 13 111893800 111893800 single base substitution A C intron_variant MALY-DE 13 111894217 111894217 single base substitution C G intron_variant MALY-DE 13 111903865 111903865 single base substitution G T intron_variant MALY-DE 13 111913741 111913741 single base substitution G A intron_variant MALY-DE 13 111913795 111913795 single base substitution A C intron_variant MALY-DE 13 111914762 111914763 deletion of <=200bp TG - intron_variant MALY-DE 13 111922459 111922459 single base substitution C A intron_variant MALY-DE 13 111926268 111926268 single base substitution C T exon_variant MALY-DE 13 111926268 111926268 single base substitution C T intron_variant MALY-DE 13 111926268 111926268 single base substitution C T missense_variant T159M 476C>T MALY-DE 13 111926268 111926268 single base substitution C T missense_variant T237M 710C>T MALY-DE 13 111926268 111926268 single base substitution C T missense_variant T312M 935C>T MALY-DE 13 111926268 111926268 single base substitution C T missense_variant T322M 965C>T MALY-DE 13 111926268 111926268 single base substitution C T missense_variant T365M 1094C>T MALY-DE 13 111926268 111926268 single base substitution C T missense_variant T394M 1181C>T MALY-DE 13 111926268 111926268 single base substitution C T missense_variant T415M 1244C>T MALY-DE 13 111927162 111927162 insertion of <=200bp - C intron_variant MALY-DE 13 111929100 111929100 single base substitution A C downstream_gene_variant MALY-DE 13 111929100 111929100 single base substitution A C intron_variant MALY-DE 13 111929133 111929133 single base substitution T C downstream_gene_variant MALY-DE 13 111929133 111929133 single base substitution T C intron_variant MALY-DE 13 111930048 111930048 deletion of <=200bp A - downstream_gene_variant MALY-DE 13 111930048 111930048 deletion of <=200bp A - intron_variant MALY-DE 13 111942761 111942761 single base substitution G A downstream_gene_variant MALY-DE 13 111942761 111942761 single base substitution G A intron_variant MALY-DE 13 111948114 111948114 single base substitution T C downstream_gene_variant MALY-DE 13 111948114 111948114 single base substitution T C intron_variant MALY-DE 13 111948181 111948181 single base substitution T C downstream_gene_variant MALY-DE 13 111948181 111948181 single base substitution T C intron_variant MALY-DE 13 111948763 111948763 single base substitution G A downstream_gene_variant MALY-DE 13 111948763 111948763 single base substitution G A intron_variant MALY-DE 13 111960690 111960690 single base substitution C T downstream_gene_variant MELA-AU 13 111761914 111761914 single base substitution G A upstream_gene_variant MELA-AU 13 111761981 111761981 single base substitution G A upstream_gene_variant MELA-AU 13 111762203 111762203 single base substitution C A upstream_gene_variant MELA-AU 13 111762236 111762236 single base substitution G A upstream_gene_variant MELA-AU 13 111762257 111762257 single base substitution G A upstream_gene_variant MELA-AU 13 111762460 111762460 single base substitution C T upstream_gene_variant MELA-AU 13 111762518 111762518 single base substitution C T upstream_gene_variant MELA-AU 13 111762927 111762927 single base substitution G A upstream_gene_variant MELA-AU 13 111762931 111762931 single base substitution A T upstream_gene_variant MELA-AU 13 111763099 111763099 single base substitution G A upstream_gene_variant MELA-AU 13 111763287 111763287 single base substitution G A upstream_gene_variant MELA-AU 13 111763312 111763312 single base substitution C T upstream_gene_variant MELA-AU 13 111763345 111763345 single base substitution G A upstream_gene_variant MELA-AU 13 111763348 111763349 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 13 111763390 111763390 single base substitution A C upstream_gene_variant MELA-AU 13 111763606 111763606 single base substitution A C upstream_gene_variant MELA-AU 13 111763629 111763629 single base substitution G A upstream_gene_variant MELA-AU 13 111763631 111763631 single base substitution G A upstream_gene_variant MELA-AU 13 111763641 111763641 single base substitution C T upstream_gene_variant MELA-AU 13 111763670 111763670 single base substitution G A upstream_gene_variant MELA-AU 13 111763903 111763903 single base substitution G T upstream_gene_variant MELA-AU 13 111763966 111763966 single base substitution C T upstream_gene_variant MELA-AU 13 111764206 111764206 single base substitution C T upstream_gene_variant MELA-AU 13 111764265 111764265 single base substitution G A upstream_gene_variant MELA-AU 13 111764502 111764502 single base substitution C T upstream_gene_variant MELA-AU 13 111764712 111764712 single base substitution G A upstream_gene_variant MELA-AU 13 111764889 111764889 single base substitution G A upstream_gene_variant MELA-AU 13 111764891 111764891 single base substitution G A upstream_gene_variant MELA-AU 13 111764918 111764918 single base substitution C T upstream_gene_variant MELA-AU 13 111765068 111765068 single base substitution C T upstream_gene_variant MELA-AU 13 111765120 111765120 single base substitution C T upstream_gene_variant MELA-AU 13 111765285 111765285 single base substitution C T upstream_gene_variant MELA-AU 13 111765312 111765312 single base substitution G A upstream_gene_variant MELA-AU 13 111765634 111765634 single base substitution C T upstream_gene_variant MELA-AU 13 111766152 111766152 single base substitution G A upstream_gene_variant MELA-AU 13 111766230 111766230 single base substitution C T upstream_gene_variant MELA-AU 13 111767052 111767052 single base substitution C T 5_prime_UTR_variant MELA-AU 13 111767052 111767052 single base substitution C T exon_variant MELA-AU 13 111767052 111767052 single base substitution C T upstream_gene_variant MELA-AU 13 111768129 111768129 single base substitution C T intron_variant MELA-AU 13 111768724 111768724 single base substitution C T exon_variant MELA-AU 13 111768724 111768724 single base substitution C T intron_variant MELA-AU 13 111769615 111769615 single base substitution C T downstream_gene_variant MELA-AU 13 111769615 111769615 single base substitution C T intron_variant MELA-AU 13 111769668 111769668 single base substitution C T downstream_gene_variant MELA-AU 13 111769668 111769668 single base substitution C T intron_variant MELA-AU 13 111770015 111770015 single base substitution C T downstream_gene_variant MELA-AU 13 111770015 111770015 single base substitution C T intron_variant MELA-AU 13 111770019 111770019 single base substitution T C downstream_gene_variant MELA-AU 13 111770019 111770019 single base substitution T C intron_variant MELA-AU 13 111770080 111770080 single base substitution C T downstream_gene_variant MELA-AU 13 111770080 111770080 single base substitution C T intron_variant MELA-AU 13 111770858 111770858 single base substitution C T downstream_gene_variant MELA-AU 13 111770858 111770858 single base substitution C T intron_variant MELA-AU 13 111770978 111770978 single base substitution T A downstream_gene_variant MELA-AU 13 111770978 111770978 single base substitution T A intron_variant MELA-AU 13 111771087 111771087 single base substitution A G downstream_gene_variant MELA-AU 13 111771087 111771087 single base substitution A G intron_variant MELA-AU 13 111771239 111771239 single base substitution C T downstream_gene_variant MELA-AU 13 111771239 111771239 single base substitution C T intron_variant MELA-AU 13 111771329 111771329 single base substitution G A downstream_gene_variant MELA-AU 13 111771329 111771329 single base substitution G A intron_variant MELA-AU 13 111771374 111771374 single base substitution G A downstream_gene_variant MELA-AU 13 111771374 111771374 single base substitution G A intron_variant MELA-AU 13 111771390 111771390 single base substitution C T downstream_gene_variant MELA-AU 13 111771390 111771390 single base substitution C T intron_variant MELA-AU 13 111771443 111771443 single base substitution C T downstream_gene_variant MELA-AU 13 111771443 111771443 single base substitution C T intron_variant MELA-AU 13 111771527 111771527 single base substitution C T downstream_gene_variant MELA-AU 13 111771527 111771527 single base substitution C T intron_variant MELA-AU 13 111771652 111771652 single base substitution T C downstream_gene_variant MELA-AU 13 111771652 111771652 single base substitution T C intron_variant MELA-AU 13 111771941 111771941 single base substitution C A downstream_gene_variant MELA-AU 13 111771941 111771941 single base substitution C A intron_variant MELA-AU 13 111771964 111771964 single base substitution G T downstream_gene_variant MELA-AU 13 111771964 111771964 single base substitution G T intron_variant MELA-AU 13 111772064 111772064 single base substitution G A downstream_gene_variant MELA-AU 13 111772064 111772064 single base substitution G A intron_variant MELA-AU 13 111772127 111772127 single base substitution C T downstream_gene_variant MELA-AU 13 111772127 111772127 single base substitution C T intron_variant MELA-AU 13 111772365 111772365 single base substitution C T downstream_gene_variant MELA-AU 13 111772365 111772365 single base substitution C T intron_variant MELA-AU 13 111772607 111772607 single base substitution C T downstream_gene_variant MELA-AU 13 111772607 111772607 single base substitution C T intron_variant MELA-AU 13 111772633 111772633 single base substitution G A downstream_gene_variant MELA-AU 13 111772633 111772633 single base substitution G A intron_variant MELA-AU 13 111772638 111772638 single base substitution C T downstream_gene_variant MELA-AU 13 111772638 111772638 single base substitution C T intron_variant MELA-AU 13 111773053 111773053 single base substitution C T downstream_gene_variant MELA-AU 13 111773053 111773053 single base substitution C T intron_variant MELA-AU 13 111773088 111773088 single base substitution A G downstream_gene_variant MELA-AU 13 111773088 111773088 single base substitution A G intron_variant MELA-AU 13 111773131 111773131 single base substitution C T downstream_gene_variant MELA-AU 13 111773131 111773131 single base substitution C T intron_variant MELA-AU 13 111773248 111773248 single base substitution A G downstream_gene_variant MELA-AU 13 111773248 111773248 single base substitution A G intron_variant MELA-AU 13 111773250 111773250 single base substitution G A downstream_gene_variant MELA-AU 13 111773250 111773250 single base substitution G A intron_variant MELA-AU 13 111773358 111773358 single base substitution G A downstream_gene_variant MELA-AU 13 111773358 111773358 single base substitution G A intron_variant MELA-AU 13 111773822 111773822 single base substitution C T downstream_gene_variant MELA-AU 13 111773822 111773822 single base substitution C T intron_variant MELA-AU 13 111773959 111773959 single base substitution G A intron_variant MELA-AU 13 111774028 111774028 single base substitution G A intron_variant MELA-AU 13 111774066 111774066 single base substitution G A intron_variant MELA-AU 13 111774172 111774172 single base substitution G A intron_variant MELA-AU 13 111774606 111774606 single base substitution C T intron_variant MELA-AU 13 111774751 111774751 single base substitution C T intron_variant MELA-AU 13 111774912 111774912 single base substitution G A intron_variant MELA-AU 13 111775301 111775301 single base substitution C T intron_variant MELA-AU 13 111775329 111775329 single base substitution C T intron_variant MELA-AU 13 111775361 111775361 single base substitution G A intron_variant MELA-AU 13 111775445 111775445 single base substitution G A intron_variant MELA-AU 13 111775634 111775635 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 111775813 111775813 single base substitution G A intron_variant MELA-AU 13 111775912 111775912 single base substitution G A intron_variant MELA-AU 13 111775957 111775957 single base substitution C T intron_variant MELA-AU 13 111776191 111776191 single base substitution C T intron_variant MELA-AU 13 111776212 111776212 single base substitution C G intron_variant MELA-AU 13 111776307 111776307 single base substitution C T intron_variant MELA-AU 13 111776528 111776528 single base substitution C T intron_variant MELA-AU 13 111776695 111776695 single base substitution G A intron_variant MELA-AU 13 111776815 111776815 single base substitution C T intron_variant MELA-AU 13 111776864 111776864 single base substitution C T intron_variant MELA-AU 13 111777047 111777047 single base substitution C T intron_variant MELA-AU 13 111777068 111777068 single base substitution C T intron_variant MELA-AU 13 111777201 111777201 single base substitution G A intron_variant MELA-AU 13 111777231 111777231 single base substitution C T intron_variant MELA-AU 13 111777243 111777243 single base substitution G A intron_variant MELA-AU 13 111777408 111777409 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 111777416 111777416 single base substitution C T intron_variant MELA-AU 13 111777994 111777994 single base substitution G T intron_variant MELA-AU 13 111778014 111778014 single base substitution C G intron_variant MELA-AU 13 111778126 111778126 single base substitution G A intron_variant MELA-AU 13 111778302 111778302 single base substitution C T intron_variant MELA-AU 13 111778325 111778325 single base substitution G A intron_variant MELA-AU 13 111778410 111778410 single base substitution G A intron_variant MELA-AU 13 111778512 111778512 single base substitution C T intron_variant MELA-AU 13 111778761 111778761 single base substitution C T intron_variant MELA-AU 13 111779217 111779217 single base substitution C T intron_variant MELA-AU 13 111779229 111779229 single base substitution G A intron_variant MELA-AU 13 111779275 111779275 single base substitution G A intron_variant MELA-AU 13 111779391 111779391 single base substitution G A intron_variant MELA-AU 13 111779427 111779427 single base substitution G A intron_variant MELA-AU 13 111779551 111779551 single base substitution G A intron_variant MELA-AU 13 111779842 111779842 single base substitution A G intron_variant MELA-AU 13 111781028 111781028 single base substitution C T intron_variant MELA-AU 13 111781369 111781369 single base substitution G A intron_variant MELA-AU 13 111781563 111781563 single base substitution G A intron_variant MELA-AU 13 111781607 111781607 single base substitution G A intron_variant MELA-AU 13 111781837 111781837 single base substitution G A intron_variant MELA-AU 13 111781989 111781989 single base substitution G A intron_variant MELA-AU 13 111782046 111782046 single base substitution G A intron_variant MELA-AU 13 111782240 111782240 single base substitution G A intron_variant MELA-AU 13 111782312 111782312 single base substitution G A intron_variant MELA-AU 13 111782350 111782350 single base substitution A T intron_variant MELA-AU 13 111782588 111782588 single base substitution G A intron_variant MELA-AU 13 111782972 111782972 single base substitution C T intron_variant MELA-AU 13 111783043 111783043 single base substitution C T intron_variant MELA-AU 13 111783084 111783084 single base substitution C T intron_variant MELA-AU 13 111783154 111783154 single base substitution C T intron_variant MELA-AU 13 111783249 111783249 single base substitution G A intron_variant MELA-AU 13 111783276 111783276 single base substitution G A intron_variant MELA-AU 13 111783324 111783324 single base substitution C A intron_variant MELA-AU 13 111783515 111783515 single base substitution C T intron_variant MELA-AU 13 111783527 111783527 single base substitution C T intron_variant MELA-AU 13 111783597 111783597 single base substitution G A intron_variant MELA-AU 13 111783932 111783933 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 111784259 111784259 single base substitution G A intron_variant MELA-AU 13 111784346 111784346 single base substitution G A intron_variant MELA-AU 13 111784451 111784451 single base substitution G A intron_variant MELA-AU 13 111784644 111784644 single base substitution T C intron_variant MELA-AU 13 111784668 111784668 single base substitution C T intron_variant MELA-AU 13 111784754 111784754 single base substitution G A intron_variant MELA-AU 13 111784983 111784983 single base substitution C T intron_variant MELA-AU 13 111785191 111785191 single base substitution G A intron_variant MELA-AU 13 111785199 111785199 single base substitution G A intron_variant MELA-AU 13 111785738 111785738 single base substitution G A intron_variant MELA-AU 13 111786074 111786074 single base substitution C T intron_variant MELA-AU 13 111786176 111786176 single base substitution G A intron_variant MELA-AU 13 111786628 111786628 single base substitution G A intron_variant MELA-AU 13 111787297 111787297 single base substitution C T intron_variant MELA-AU 13 111787340 111787340 single base substitution G A intron_variant MELA-AU 13 111788093 111788093 single base substitution G A intron_variant MELA-AU 13 111788610 111788610 single base substitution C T intron_variant MELA-AU 13 111788614 111788614 single base substitution C T intron_variant MELA-AU 13 111789469 111789469 single base substitution A T intron_variant MELA-AU 13 111789974 111789974 single base substitution G A intron_variant MELA-AU 13 111790015 111790015 single base substitution C T intron_variant MELA-AU 13 111790103 111790103 single base substitution G A intron_variant MELA-AU 13 111790208 111790208 single base substitution G A intron_variant MELA-AU 13 111790218 111790218 single base substitution C T intron_variant MELA-AU 13 111790343 111790343 single base substitution G A intron_variant MELA-AU 13 111790458 111790458 single base substitution C T intron_variant MELA-AU 13 111790488 111790488 single base substitution C T intron_variant MELA-AU 13 111790558 111790558 single base substitution G A intron_variant MELA-AU 13 111790923 111790923 single base substitution A G intron_variant MELA-AU 13 111790931 111790931 single base substitution G A intron_variant MELA-AU 13 111791250 111791250 single base substitution C T intron_variant MELA-AU 13 111791255 111791255 single base substitution G A intron_variant MELA-AU 13 111791340 111791340 single base substitution G A intron_variant MELA-AU 13 111791400 111791400 single base substitution C T intron_variant MELA-AU 13 111791477 111791477 single base substitution G A intron_variant MELA-AU 13 111791653 111791653 single base substitution C T intron_variant MELA-AU 13 111791690 111791690 single base substitution C T intron_variant MELA-AU 13 111791725 111791725 single base substitution C T intron_variant MELA-AU 13 111791740 111791740 single base substitution C T intron_variant MELA-AU 13 111791761 111791761 single base substitution C T intron_variant MELA-AU 13 111791841 111791841 single base substitution C G intron_variant MELA-AU 13 111791896 111791896 single base substitution C G intron_variant MELA-AU 13 111792051 111792051 single base substitution G A intron_variant MELA-AU 13 111792114 111792114 single base substitution G A intron_variant MELA-AU 13 111792333 111792333 single base substitution C T intron_variant MELA-AU 13 111792349 111792349 single base substitution C T intron_variant MELA-AU 13 111792526 111792526 single base substitution T G intron_variant MELA-AU 13 111792612 111792612 single base substitution G A intron_variant MELA-AU 13 111792956 111792956 single base substitution G A intron_variant MELA-AU 13 111792959 111792960 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 111793409 111793409 single base substitution C T intron_variant MELA-AU 13 111793433 111793433 single base substitution C T intron_variant MELA-AU 13 111793820 111793820 single base substitution C T intron_variant MELA-AU 13 111793927 111793928 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 111794030 111794030 single base substitution C T intron_variant MELA-AU 13 111794040 111794040 single base substitution G A intron_variant MELA-AU 13 111794195 111794195 single base substitution G A intron_variant MELA-AU 13 111794390 111794390 single base substitution C T intron_variant MELA-AU 13 111794430 111794430 deletion of <=200bp G - intron_variant MELA-AU 13 111795109 111795109 single base substitution T G intron_variant MELA-AU 13 111795111 111795111 single base substitution C A intron_variant MELA-AU 13 111795346 111795346 single base substitution C T intron_variant MELA-AU 13 111795412 111795412 single base substitution G A intron_variant MELA-AU 13 111796786 111796786 single base substitution C T intron_variant MELA-AU 13 111797056 111797056 single base substitution G A intron_variant MELA-AU 13 111797186 111797186 single base substitution A G intron_variant MELA-AU 13 111797477 111797477 single base substitution G A intron_variant MELA-AU 13 111797548 111797548 single base substitution C T intron_variant MELA-AU 13 111797709 111797709 single base substitution G A intron_variant MELA-AU 13 111797799 111797799 single base substitution T C intron_variant MELA-AU 13 111797907 111797907 single base substitution G A intron_variant MELA-AU 13 111798167 111798167 single base substitution G A intron_variant MELA-AU 13 111798355 111798355 single base substitution C T intron_variant MELA-AU 13 111798467 111798467 single base substitution G A intron_variant MELA-AU 13 111798658 111798658 single base substitution G A intron_variant MELA-AU 13 111798664 111798664 single base substitution C T intron_variant MELA-AU 13 111798670 111798670 single base substitution C T intron_variant MELA-AU 13 111798712 111798712 single base substitution G A intron_variant MELA-AU 13 111798871 111798871 single base substitution T C intron_variant MELA-AU 13 111799557 111799557 single base substitution A T intron_variant MELA-AU 13 111799664 111799664 single base substitution G A intron_variant MELA-AU 13 111799718 111799718 single base substitution C T intron_variant MELA-AU 13 111799843 111799843 single base substitution G A intron_variant MELA-AU 13 111799979 111799979 single base substitution G C intron_variant MELA-AU 13 111800715 111800715 single base substitution C T intron_variant MELA-AU 13 111801361 111801361 single base substitution G A intron_variant MELA-AU 13 111801361 111801361 single base substitution G A upstream_gene_variant MELA-AU 13 111801621 111801621 single base substitution G A intron_variant MELA-AU 13 111801621 111801621 single base substitution G A upstream_gene_variant MELA-AU 13 111802375 111802375 single base substitution G A intron_variant MELA-AU 13 111802375 111802375 single base substitution G A upstream_gene_variant MELA-AU 13 111803633 111803633 single base substitution C T intron_variant MELA-AU 13 111803633 111803633 single base substitution C T upstream_gene_variant MELA-AU 13 111803695 111803695 single base substitution C T intron_variant MELA-AU 13 111803695 111803695 single base substitution C T upstream_gene_variant MELA-AU 13 111803925 111803925 single base substitution T C intron_variant MELA-AU 13 111803925 111803925 single base substitution T C upstream_gene_variant MELA-AU 13 111804811 111804811 single base substitution T C intron_variant MELA-AU 13 111804811 111804811 single base substitution T C upstream_gene_variant MELA-AU 13 111805169 111805169 single base substitution C T intron_variant MELA-AU 13 111805169 111805169 single base substitution C T upstream_gene_variant MELA-AU 13 111805255 111805255 single base substitution T A intron_variant MELA-AU 13 111805255 111805255 single base substitution T A upstream_gene_variant MELA-AU 13 111805605 111805606 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 111805605 111805606 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 13 111805964 111805964 single base substitution G A intron_variant MELA-AU 13 111805964 111805964 single base substitution G A upstream_gene_variant MELA-AU 13 111805998 111805998 single base substitution C T 5_prime_UTR_variant MELA-AU 13 111805998 111805998 single base substitution C T intron_variant MELA-AU 13 111805998 111805998 single base substitution C T upstream_gene_variant MELA-AU 13 111806017 111806017 single base substitution C T 5_prime_UTR_variant MELA-AU 13 111806017 111806017 single base substitution C T intron_variant MELA-AU 13 111806017 111806017 single base substitution C T upstream_gene_variant MELA-AU 13 111806018 111806018 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 13 111806018 111806018 single base substitution C T intron_variant MELA-AU 13 111806018 111806018 single base substitution C T upstream_gene_variant MELA-AU 13 111807727 111807727 single base substitution A T downstream_gene_variant MELA-AU 13 111807727 111807727 single base substitution A T intron_variant MELA-AU 13 111808075 111808075 single base substitution G A downstream_gene_variant MELA-AU 13 111808075 111808075 single base substitution G A intron_variant MELA-AU 13 111808424 111808424 single base substitution C T downstream_gene_variant MELA-AU 13 111808424 111808424 single base substitution C T intron_variant MELA-AU 13 111809564 111809564 single base substitution T C downstream_gene_variant MELA-AU 13 111809564 111809564 single base substitution T C intron_variant MELA-AU 13 111810346 111810346 single base substitution T C downstream_gene_variant MELA-AU 13 111810346 111810346 single base substitution T C intron_variant MELA-AU 13 111811015 111811015 single base substitution T A downstream_gene_variant MELA-AU 13 111811015 111811015 single base substitution T A intron_variant MELA-AU 13 111811563 111811563 single base substitution C T intron_variant MELA-AU 13 111811880 111811880 single base substitution C T intron_variant MELA-AU 13 111812212 111812212 single base substitution C T intron_variant MELA-AU 13 111812238 111812238 single base substitution T A intron_variant MELA-AU 13 111812323 111812323 single base substitution C T intron_variant MELA-AU 13 111812343 111812343 single base substitution T C intron_variant MELA-AU 13 111812412 111812412 single base substitution T G intron_variant MELA-AU 13 111812938 111812938 single base substitution C T intron_variant MELA-AU 13 111813140 111813140 single base substitution C T intron_variant MELA-AU 13 111814491 111814491 single base substitution C T intron_variant MELA-AU 13 111816471 111816471 single base substitution G A intron_variant MELA-AU 13 111816920 111816920 single base substitution C T intron_variant MELA-AU 13 111817090 111817090 single base substitution A G intron_variant MELA-AU 13 111817353 111817353 single base substitution C T intron_variant MELA-AU 13 111817392 111817392 single base substitution C T intron_variant MELA-AU 13 111818211 111818211 single base substitution T C intron_variant MELA-AU 13 111818600 111818600 single base substitution C G intron_variant MELA-AU 13 111818931 111818931 single base substitution C T intron_variant MELA-AU 13 111819092 111819092 single base substitution C T intron_variant MELA-AU 13 111819216 111819216 single base substitution C T intron_variant MELA-AU 13 111819505 111819505 single base substitution C T intron_variant MELA-AU 13 111820545 111820545 single base substitution C T intron_variant MELA-AU 13 111821383 111821383 single base substitution C T intron_variant MELA-AU 13 111821660 111821660 single base substitution G A intron_variant MELA-AU 13 111822928 111822928 single base substitution C T intron_variant MELA-AU 13 111823054 111823054 single base substitution G A intron_variant MELA-AU 13 111824332 111824332 single base substitution C T intron_variant MELA-AU 13 111825247 111825247 single base substitution C T intron_variant MELA-AU 13 111827095 111827095 single base substitution G A intron_variant MELA-AU 13 111827285 111827285 single base substitution C T intron_variant MELA-AU 13 111827318 111827318 single base substitution C T intron_variant MELA-AU 13 111828552 111828552 single base substitution T C intron_variant MELA-AU 13 111829410 111829410 single base substitution C T intron_variant MELA-AU 13 111829647 111829648 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 13 111829771 111829771 single base substitution G A intron_variant MELA-AU 13 111830583 111830583 single base substitution C T intron_variant MELA-AU 13 111831065 111831065 single base substitution A G intron_variant MELA-AU 13 111831311 111831311 single base substitution C T intron_variant MELA-AU 13 111831352 111831352 single base substitution T C intron_variant MELA-AU 13 111831436 111831436 single base substitution T G intron_variant MELA-AU 13 111831689 111831689 single base substitution C T intron_variant MELA-AU 13 111832670 111832670 single base substitution C T intron_variant MELA-AU 13 111832670 111832670 single base substitution C T upstream_gene_variant MELA-AU 13 111832772 111832772 single base substitution C T intron_variant MELA-AU 13 111832772 111832772 single base substitution C T upstream_gene_variant MELA-AU 13 111833728 111833728 single base substitution A G intron_variant MELA-AU 13 111833728 111833728 single base substitution A G upstream_gene_variant MELA-AU 13 111834182 111834182 single base substitution G A intron_variant MELA-AU 13 111834182 111834182 single base substitution G A upstream_gene_variant MELA-AU 13 111834402 111834402 single base substitution T C intron_variant MELA-AU 13 111834402 111834402 single base substitution T C upstream_gene_variant MELA-AU 13 111834586 111834586 single base substitution C T intron_variant MELA-AU 13 111834586 111834586 single base substitution C T upstream_gene_variant MELA-AU 13 111835116 111835116 single base substitution C T intron_variant MELA-AU 13 111835116 111835116 single base substitution C T upstream_gene_variant MELA-AU 13 111835519 111835519 single base substitution T C intron_variant MELA-AU 13 111835519 111835519 single base substitution T C upstream_gene_variant MELA-AU 13 111835892 111835892 single base substitution C T intron_variant MELA-AU 13 111835892 111835892 single base substitution C T upstream_gene_variant MELA-AU 13 111837300 111837300 single base substitution G C 5_prime_UTR_variant MELA-AU 13 111837300 111837300 single base substitution G C intron_variant MELA-AU 13 111837300 111837300 single base substitution G C upstream_gene_variant MELA-AU 13 111837360 111837360 single base substitution T A 5_prime_UTR_variant MELA-AU 13 111837360 111837360 single base substitution T A intron_variant MELA-AU 13 111837360 111837360 single base substitution T A upstream_gene_variant MELA-AU 13 111837556 111837556 single base substitution C A 5_prime_UTR_variant MELA-AU 13 111837556 111837556 single base substitution C A intron_variant MELA-AU 13 111837556 111837556 single base substitution C A upstream_gene_variant MELA-AU 13 111837567 111837567 single base substitution C T 5_prime_UTR_variant MELA-AU 13 111837567 111837567 single base substitution C T intron_variant MELA-AU 13 111837567 111837567 single base substitution C T upstream_gene_variant MELA-AU 13 111837795 111837795 single base substitution C T intron_variant MELA-AU 13 111837795 111837795 single base substitution C T upstream_gene_variant MELA-AU 13 111839900 111839900 single base substitution T G intron_variant MELA-AU 13 111839918 111839918 single base substitution A G intron_variant MELA-AU 13 111840288 111840288 single base substitution C T intron_variant MELA-AU 13 111841574 111841574 single base substitution T C intron_variant MELA-AU 13 111841728 111841728 single base substitution C T intron_variant MELA-AU 13 111842234 111842234 single base substitution G A intron_variant MELA-AU 13 111842645 111842645 single base substitution C T intron_variant MELA-AU 13 111843219 111843219 single base substitution C T intron_variant MELA-AU 13 111843251 111843251 single base substitution G T intron_variant MELA-AU 13 111844245 111844245 single base substitution C T intron_variant MELA-AU 13 111844551 111844551 single base substitution C T intron_variant MELA-AU 13 111844599 111844599 single base substitution T C intron_variant MELA-AU 13 111844621 111844621 single base substitution G A intron_variant MELA-AU 13 111844704 111844704 single base substitution G A intron_variant MELA-AU 13 111845168 111845168 single base substitution C T intron_variant MELA-AU 13 111845198 111845198 single base substitution G A intron_variant MELA-AU 13 111845802 111845802 single base substitution T C intron_variant MELA-AU 13 111845834 111845834 single base substitution C T intron_variant MELA-AU 13 111845965 111845965 single base substitution A G intron_variant MELA-AU 13 111846337 111846337 single base substitution C T intron_variant MELA-AU 13 111846346 111846346 single base substitution C T intron_variant MELA-AU 13 111846747 111846747 single base substitution C T intron_variant MELA-AU 13 111847677 111847677 single base substitution C T intron_variant MELA-AU 13 111848572 111848572 single base substitution A G intron_variant MELA-AU 13 111849240 111849240 single base substitution C T intron_variant MELA-AU 13 111849732 111849732 single base substitution C T intron_variant MELA-AU 13 111850016 111850016 single base substitution C T intron_variant MELA-AU 13 111850135 111850135 single base substitution C T intron_variant MELA-AU 13 111850488 111850488 single base substitution T C intron_variant MELA-AU 13 111850488 111850488 single base substitution T C upstream_gene_variant MELA-AU 13 111851021 111851021 single base substitution T C intron_variant MELA-AU 13 111851021 111851021 single base substitution T C upstream_gene_variant MELA-AU 13 111851818 111851818 single base substitution G A intron_variant MELA-AU 13 111851818 111851818 single base substitution G A upstream_gene_variant MELA-AU 13 111851829 111851829 single base substitution C T intron_variant MELA-AU 13 111851829 111851829 single base substitution C T upstream_gene_variant MELA-AU 13 111852225 111852225 single base substitution C T intron_variant MELA-AU 13 111852225 111852225 single base substitution C T upstream_gene_variant MELA-AU 13 111852283 111852283 single base substitution C T intron_variant MELA-AU 13 111852283 111852283 single base substitution C T upstream_gene_variant MELA-AU 13 111852290 111852290 single base substitution C T intron_variant MELA-AU 13 111852290 111852290 single base substitution C T upstream_gene_variant MELA-AU 13 111852491 111852492 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 111852491 111852492 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 13 111852510 111852510 single base substitution C T intron_variant MELA-AU 13 111852510 111852510 single base substitution C T upstream_gene_variant MELA-AU 13 111852717 111852717 single base substitution C T intron_variant MELA-AU 13 111852717 111852717 single base substitution C T upstream_gene_variant MELA-AU 13 111853401 111853401 single base substitution C T intron_variant MELA-AU 13 111853401 111853401 single base substitution C T upstream_gene_variant MELA-AU 13 111853464 111853465 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 111853464 111853465 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 13 111853630 111853630 single base substitution C T intron_variant MELA-AU 13 111853630 111853630 single base substitution C T upstream_gene_variant MELA-AU 13 111854280 111854280 single base substitution C T intron_variant MELA-AU 13 111854280 111854280 single base substitution C T upstream_gene_variant MELA-AU 13 111854596 111854596 single base substitution T G intron_variant MELA-AU 13 111854596 111854596 single base substitution T G upstream_gene_variant MELA-AU 13 111855068 111855068 single base substitution C T intron_variant MELA-AU 13 111855068 111855068 single base substitution C T upstream_gene_variant MELA-AU 13 111856147 111856147 single base substitution A T intron_variant MELA-AU 13 111856147 111856147 single base substitution A T upstream_gene_variant MELA-AU 13 111856149 111856149 single base substitution T A intron_variant MELA-AU 13 111856149 111856149 single base substitution T A upstream_gene_variant MELA-AU 13 111857744 111857744 single base substitution C T intron_variant MELA-AU 13 111857935 111857935 single base substitution C T intron_variant MELA-AU 13 111858232 111858232 single base substitution G C intron_variant MELA-AU 13 111858348 111858348 single base substitution G A intron_variant MELA-AU 13 111858455 111858455 single base substitution T A intron_variant MELA-AU 13 111859638 111859638 single base substitution C G intron_variant MELA-AU 13 111860512 111860512 single base substitution C T intron_variant MELA-AU 13 111862461 111862461 single base substitution G A intron_variant MELA-AU 13 111864160 111864161 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 111864309 111864309 single base substitution C T intron_variant MELA-AU 13 111864358 111864358 single base substitution T C intron_variant MELA-AU 13 111864835 111864835 single base substitution G A intron_variant MELA-AU 13 111865570 111865570 single base substitution C T intron_variant MELA-AU 13 111865643 111865643 single base substitution C T intron_variant MELA-AU 13 111865908 111865908 single base substitution C T intron_variant MELA-AU 13 111866696 111866696 single base substitution C T intron_variant MELA-AU 13 111867394 111867394 deletion of <=200bp T - intron_variant MELA-AU 13 111867407 111867407 single base substitution C T intron_variant MELA-AU 13 111867957 111867957 single base substitution T C intron_variant MELA-AU 13 111868085 111868085 single base substitution C A intron_variant MELA-AU 13 111868243 111868243 single base substitution C T intron_variant MELA-AU 13 111868266 111868266 single base substitution C T intron_variant MELA-AU 13 111868295 111868295 single base substitution C T intron_variant MELA-AU 13 111869117 111869117 single base substitution C T intron_variant MELA-AU 13 111869354 111869354 single base substitution G A intron_variant MELA-AU 13 111869822 111869822 single base substitution T G intron_variant MELA-AU 13 111870019 111870019 single base substitution C T intron_variant MELA-AU 13 111870019 111870019 single base substitution C T splice_region_variant MELA-AU 13 111871153 111871154 multiple base substitution (>=2bp and <=200bp) TC AT downstream_gene_variant MELA-AU 13 111871153 111871154 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 13 111871657 111871657 single base substitution C T downstream_gene_variant MELA-AU 13 111871657 111871657 single base substitution C T intron_variant MELA-AU 13 111871740 111871740 single base substitution G A downstream_gene_variant MELA-AU 13 111871740 111871740 single base substitution G A intron_variant MELA-AU 13 111871833 111871833 single base substitution C G downstream_gene_variant MELA-AU 13 111871833 111871833 single base substitution C G intron_variant MELA-AU 13 111872021 111872021 single base substitution C T downstream_gene_variant MELA-AU 13 111872021 111872021 single base substitution C T intron_variant MELA-AU 13 111872679 111872679 single base substitution C T downstream_gene_variant MELA-AU 13 111872679 111872679 single base substitution C T intron_variant MELA-AU 13 111872816 111872816 single base substitution T A downstream_gene_variant MELA-AU 13 111872816 111872816 single base substitution T A intron_variant MELA-AU 13 111872886 111872886 single base substitution C T downstream_gene_variant MELA-AU 13 111872886 111872886 single base substitution C T intron_variant MELA-AU 13 111873206 111873206 single base substitution C T downstream_gene_variant MELA-AU 13 111873206 111873206 single base substitution C T intron_variant MELA-AU 13 111873245 111873245 single base substitution A G downstream_gene_variant MELA-AU 13 111873245 111873245 single base substitution A G intron_variant MELA-AU 13 111873906 111873906 single base substitution C A downstream_gene_variant MELA-AU 13 111873906 111873906 single base substitution C A intron_variant MELA-AU 13 111874054 111874054 single base substitution C A downstream_gene_variant MELA-AU 13 111874054 111874054 single base substitution C A intron_variant MELA-AU 13 111874056 111874056 single base substitution G C downstream_gene_variant MELA-AU 13 111874056 111874056 single base substitution G C intron_variant MELA-AU 13 111874459 111874459 single base substitution C T downstream_gene_variant MELA-AU 13 111874459 111874459 single base substitution C T intron_variant MELA-AU 13 111874610 111874610 single base substitution A T downstream_gene_variant MELA-AU 13 111874610 111874610 single base substitution A T intron_variant MELA-AU 13 111875543 111875543 single base substitution C T intron_variant MELA-AU 13 111876106 111876106 single base substitution T A intron_variant MELA-AU 13 111876217 111876217 single base substitution T A intron_variant MELA-AU 13 111876846 111876846 single base substitution T C intron_variant MELA-AU 13 111877072 111877072 single base substitution T A intron_variant MELA-AU 13 111877762 111877762 single base substitution C T intron_variant MELA-AU 13 111878661 111878661 single base substitution G A intron_variant MELA-AU 13 111879307 111879307 single base substitution C T intron_variant MELA-AU 13 111879430 111879430 single base substitution G A intron_variant MELA-AU 13 111879647 111879647 single base substitution C T intron_variant MELA-AU 13 111881185 111881185 single base substitution C T intron_variant MELA-AU 13 111881575 111881575 single base substitution C T intron_variant MELA-AU 13 111881676 111881676 single base substitution T G intron_variant MELA-AU 13 111881941 111881941 single base substitution C T intron_variant MELA-AU 13 111882172 111882172 single base substitution C T intron_variant MELA-AU 13 111882432 111882432 single base substitution C T intron_variant MELA-AU 13 111882799 111882799 single base substitution C T intron_variant MELA-AU 13 111882805 111882805 single base substitution G A intron_variant MELA-AU 13 111882872 111882872 single base substitution G A intron_variant MELA-AU 13 111882972 111882972 single base substitution C T intron_variant MELA-AU 13 111883130 111883130 single base substitution C T intron_variant MELA-AU 13 111883705 111883705 single base substitution C T intron_variant MELA-AU 13 111884461 111884461 single base substitution C T intron_variant MELA-AU 13 111884708 111884708 single base substitution G A intron_variant MELA-AU 13 111885423 111885423 single base substitution C T intron_variant MELA-AU 13 111885600 111885600 single base substitution G A 5_prime_UTR_variant MELA-AU 13 111885600 111885600 single base substitution G A exon_variant MELA-AU 13 111885600 111885600 single base substitution G A missense_variant G158E 473G>A MELA-AU 13 111885600 111885600 single base substitution G A missense_variant G168E 503G>A MELA-AU 13 111885600 111885600 single base substitution G A missense_variant G211E 632G>A MELA-AU 13 111885600 111885600 single base substitution G A missense_variant G240E 719G>A MELA-AU 13 111885600 111885600 single base substitution G A missense_variant G261E 782G>A MELA-AU 13 111885600 111885600 single base substitution G A missense_variant G83E 248G>A MELA-AU 13 111886463 111886463 single base substitution T C intron_variant MELA-AU 13 111887092 111887092 single base substitution C T intron_variant MELA-AU 13 111887248 111887248 single base substitution C T intron_variant MELA-AU 13 111887411 111887411 single base substitution C T intron_variant MELA-AU 13 111888183 111888183 single base substitution G A intron_variant MELA-AU 13 111888225 111888225 single base substitution A T intron_variant MELA-AU 13 111888451 111888451 single base substitution C T intron_variant MELA-AU 13 111888684 111888684 single base substitution T C intron_variant MELA-AU 13 111888684 111888684 single base substitution T C upstream_gene_variant MELA-AU 13 111889018 111889018 single base substitution A T intron_variant MELA-AU 13 111889018 111889018 single base substitution A T upstream_gene_variant MELA-AU 13 111889321 111889321 single base substitution C T intron_variant MELA-AU 13 111889321 111889321 single base substitution C T upstream_gene_variant MELA-AU 13 111889890 111889890 single base substitution C T intron_variant MELA-AU 13 111889890 111889890 single base substitution C T upstream_gene_variant MELA-AU 13 111891595 111891595 single base substitution C T intron_variant MELA-AU 13 111891595 111891595 single base substitution C T upstream_gene_variant MELA-AU 13 111892204 111892204 single base substitution T A intron_variant MELA-AU 13 111892204 111892204 single base substitution T A upstream_gene_variant MELA-AU 13 111893463 111893463 single base substitution C T intron_variant MELA-AU 13 111893463 111893463 single base substitution C T upstream_gene_variant MELA-AU 13 111894761 111894761 single base substitution C T intron_variant MELA-AU 13 111895270 111895270 single base substitution G A intron_variant MELA-AU 13 111895711 111895711 single base substitution A T intron_variant MELA-AU 13 111896182 111896182 single base substitution G A intron_variant MELA-AU 13 111897129 111897129 single base substitution C T intron_variant MELA-AU 13 111897158 111897158 single base substitution A T intron_variant MELA-AU 13 111897296 111897296 single base substitution C T intron_variant MELA-AU 13 111898326 111898326 single base substitution C T intron_variant MELA-AU 13 111898380 111898380 single base substitution C T intron_variant MELA-AU 13 111898471 111898471 single base substitution A G intron_variant MELA-AU 13 111898615 111898615 single base substitution C T intron_variant MELA-AU 13 111898669 111898669 single base substitution G A intron_variant MELA-AU 13 111899453 111899453 single base substitution G A intron_variant MELA-AU 13 111899926 111899926 single base substitution C T intron_variant MELA-AU 13 111899969 111899969 single base substitution G C intron_variant MELA-AU 13 111899973 111899973 single base substitution C T intron_variant MELA-AU 13 111900251 111900251 single base substitution C T intron_variant MELA-AU 13 111900666 111900666 single base substitution C T intron_variant MELA-AU 13 111900879 111900879 single base substitution G A intron_variant MELA-AU 13 111900887 111900887 single base substitution C T intron_variant MELA-AU 13 111900986 111900986 single base substitution C T intron_variant MELA-AU 13 111901269 111901269 single base substitution C T intron_variant MELA-AU 13 111901417 111901417 single base substitution C T intron_variant MELA-AU 13 111902243 111902243 single base substitution C A intron_variant MELA-AU 13 111902465 111902465 single base substitution C T intron_variant MELA-AU 13 111903006 111903007 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 13 111903326 111903326 single base substitution T G intron_variant MELA-AU 13 111903428 111903428 single base substitution C T intron_variant MELA-AU 13 111903580 111903580 single base substitution C T intron_variant MELA-AU 13 111903804 111903804 single base substitution C T intron_variant MELA-AU 13 111904400 111904400 single base substitution C T intron_variant MELA-AU 13 111904664 111904664 single base substitution C T intron_variant MELA-AU 13 111905192 111905192 single base substitution A G intron_variant MELA-AU 13 111905717 111905717 single base substitution T C intron_variant MELA-AU 13 111906147 111906148 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 111908052 111908052 single base substitution C T intron_variant MELA-AU 13 111908576 111908576 single base substitution G A intron_variant MELA-AU 13 111908588 111908588 single base substitution G A intron_variant MELA-AU 13 111908683 111908683 single base substitution A G intron_variant MELA-AU 13 111909211 111909211 single base substitution C T intron_variant MELA-AU 13 111909246 111909246 single base substitution A G intron_variant MELA-AU 13 111909310 111909310 single base substitution G A intron_variant MELA-AU 13 111910611 111910611 single base substitution C T intron_variant MELA-AU 13 111910670 111910670 single base substitution G A intron_variant MELA-AU 13 111910869 111910869 single base substitution C T intron_variant MELA-AU 13 111911531 111911531 single base substitution C T intron_variant MELA-AU 13 111911845 111911845 single base substitution C T intron_variant MELA-AU 13 111912485 111912485 single base substitution C T intron_variant MELA-AU 13 111912793 111912793 single base substitution G A intron_variant MELA-AU 13 111913863 111913863 single base substitution G A intron_variant MELA-AU 13 111914223 111914223 single base substitution C T intron_variant MELA-AU 13 111914293 111914293 single base substitution C T intron_variant MELA-AU 13 111914584 111914584 single base substitution T A intron_variant MELA-AU 13 111914696 111914696 deletion of <=200bp A - intron_variant MELA-AU 13 111914701 111914701 single base substitution G A intron_variant MELA-AU 13 111914944 111914944 single base substitution C T intron_variant MELA-AU 13 111915286 111915286 single base substitution C T intron_variant MELA-AU 13 111915636 111915636 single base substitution C T intron_variant MELA-AU 13 111915723 111915723 single base substitution C T intron_variant MELA-AU 13 111915805 111915805 single base substitution C T intron_variant MELA-AU 13 111915857 111915857 single base substitution C T intron_variant MELA-AU 13 111916103 111916103 single base substitution C T intron_variant MELA-AU 13 111916915 111916915 single base substitution C T intron_variant MELA-AU 13 111918867 111918867 single base substitution C T intron_variant MELA-AU 13 111919208 111919209 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 13 111919208 111919209 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 111919208 111919209 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P32F 94CC>TT MELA-AU 13 111919809 111919809 single base substitution T A intron_variant MELA-AU 13 111920230 111920230 single base substitution C T intron_variant MELA-AU 13 111920345 111920345 single base substitution A G intron_variant MELA-AU 13 111921906 111921906 single base substitution C T intron_variant MELA-AU 13 111921925 111921925 single base substitution C T intron_variant MELA-AU 13 111921974 111921974 single base substitution G A intron_variant MELA-AU 13 111922258 111922258 single base substitution C T intron_variant MELA-AU 13 111923094 111923094 single base substitution T A intron_variant MELA-AU 13 111923175 111923175 single base substitution G T intron_variant MELA-AU 13 111923978 111923978 single base substitution C T intron_variant MELA-AU 13 111924775 111924775 single base substitution A G intron_variant MELA-AU 13 111925080 111925080 single base substitution C T intron_variant MELA-AU 13 111925456 111925456 single base substitution C T intron_variant MELA-AU 13 111926000 111926000 single base substitution C T intron_variant MELA-AU 13 111926211 111926211 single base substitution T C exon_variant MELA-AU 13 111926211 111926211 single base substitution T C intron_variant MELA-AU 13 111926211 111926211 single base substitution T C missense_variant I140T 419T>C MELA-AU 13 111926211 111926211 single base substitution T C missense_variant I218T 653T>C MELA-AU 13 111926211 111926211 single base substitution T C missense_variant I293T 878T>C MELA-AU 13 111926211 111926211 single base substitution T C missense_variant I303T 908T>C MELA-AU 13 111926211 111926211 single base substitution T C missense_variant I346T 1037T>C MELA-AU 13 111926211 111926211 single base substitution T C missense_variant I375T 1124T>C MELA-AU 13 111926211 111926211 single base substitution T C missense_variant I396T 1187T>C MELA-AU 13 111926320 111926320 single base substitution T A intron_variant MELA-AU 13 111926331 111926331 single base substitution C T intron_variant MELA-AU 13 111926449 111926449 single base substitution C T intron_variant MELA-AU 13 111926725 111926725 single base substitution G T intron_variant MELA-AU 13 111928063 111928063 single base substitution C T exon_variant MELA-AU 13 111928063 111928063 single base substitution C T intron_variant MELA-AU 13 111928623 111928623 single base substitution C T downstream_gene_variant MELA-AU 13 111928623 111928623 single base substitution C T intron_variant MELA-AU 13 111929489 111929489 single base substitution C T downstream_gene_variant MELA-AU 13 111929489 111929489 single base substitution C T intron_variant MELA-AU 13 111929656 111929656 single base substitution C T downstream_gene_variant MELA-AU 13 111929656 111929656 single base substitution C T intron_variant MELA-AU 13 111930219 111930220 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 13 111930219 111930220 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 111930219 111930220 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 13 111930289 111930289 single base substitution A G downstream_gene_variant MELA-AU 13 111930289 111930289 single base substitution A G intron_variant MELA-AU 13 111930289 111930289 single base substitution A G upstream_gene_variant MELA-AU 13 111930507 111930507 single base substitution C T downstream_gene_variant MELA-AU 13 111930507 111930507 single base substitution C T intron_variant MELA-AU 13 111930507 111930507 single base substitution C T upstream_gene_variant MELA-AU 13 111930761 111930761 single base substitution C T downstream_gene_variant MELA-AU 13 111930761 111930761 single base substitution C T intron_variant MELA-AU 13 111930761 111930761 single base substitution C T upstream_gene_variant MELA-AU 13 111930849 111930849 single base substitution C T downstream_gene_variant MELA-AU 13 111930849 111930849 single base substitution C T intron_variant MELA-AU 13 111930849 111930849 single base substitution C T upstream_gene_variant MELA-AU 13 111931350 111931350 single base substitution C T downstream_gene_variant MELA-AU 13 111931350 111931350 single base substitution C T intron_variant MELA-AU 13 111931350 111931350 single base substitution C T upstream_gene_variant MELA-AU 13 111931472 111931472 single base substitution T C downstream_gene_variant MELA-AU 13 111931472 111931472 single base substitution T C intron_variant MELA-AU 13 111931472 111931472 single base substitution T C upstream_gene_variant MELA-AU 13 111931910 111931910 single base substitution C T downstream_gene_variant MELA-AU 13 111931910 111931910 single base substitution C T intron_variant MELA-AU 13 111931910 111931910 single base substitution C T upstream_gene_variant MELA-AU 13 111932183 111932183 single base substitution C T downstream_gene_variant MELA-AU 13 111932183 111932183 single base substitution C T intron_variant MELA-AU 13 111932183 111932183 single base substitution C T upstream_gene_variant MELA-AU 13 111932519 111932519 single base substitution C T downstream_gene_variant MELA-AU 13 111932519 111932519 single base substitution C T intron_variant MELA-AU 13 111932519 111932519 single base substitution C T upstream_gene_variant MELA-AU 13 111933932 111933932 single base substitution C T intron_variant MELA-AU 13 111933932 111933932 single base substitution C T upstream_gene_variant MELA-AU 13 111934026 111934026 single base substitution A T intron_variant MELA-AU 13 111934026 111934026 single base substitution A T upstream_gene_variant MELA-AU 13 111934080 111934080 single base substitution C T intron_variant MELA-AU 13 111934080 111934080 single base substitution C T upstream_gene_variant MELA-AU 13 111934520 111934520 single base substitution C T intron_variant MELA-AU 13 111934520 111934520 single base substitution C T upstream_gene_variant MELA-AU 13 111934580 111934580 single base substitution C T intron_variant MELA-AU 13 111934580 111934580 single base substitution C T upstream_gene_variant MELA-AU 13 111934601 111934601 single base substitution C T intron_variant MELA-AU 13 111934601 111934601 single base substitution C T upstream_gene_variant MELA-AU 13 111935429 111935429 single base substitution C T exon_variant MELA-AU 13 111935429 111935429 single base substitution C T intron_variant MELA-AU 13 111936564 111936564 single base substitution C T downstream_gene_variant MELA-AU 13 111936564 111936564 single base substitution C T intron_variant MELA-AU 13 111937648 111937648 single base substitution C T downstream_gene_variant MELA-AU 13 111937648 111937648 single base substitution C T intron_variant MELA-AU 13 111937839 111937839 single base substitution C T downstream_gene_variant MELA-AU 13 111937839 111937839 single base substitution C T intron_variant MELA-AU 13 111937999 111937999 single base substitution C T downstream_gene_variant MELA-AU 13 111937999 111937999 single base substitution C T intron_variant MELA-AU 13 111938829 111938829 single base substitution C T downstream_gene_variant MELA-AU 13 111938829 111938829 single base substitution C T intron_variant MELA-AU 13 111939566 111939566 single base substitution C T downstream_gene_variant MELA-AU 13 111939566 111939566 single base substitution C T intron_variant MELA-AU 13 111939806 111939807 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 13 111939806 111939807 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 111939835 111939835 single base substitution G A downstream_gene_variant MELA-AU 13 111939835 111939835 single base substitution G A intron_variant MELA-AU 13 111940030 111940030 single base substitution C T downstream_gene_variant MELA-AU 13 111940030 111940030 single base substitution C T intron_variant MELA-AU 13 111941409 111941409 single base substitution C T downstream_gene_variant MELA-AU 13 111941409 111941409 single base substitution C T intron_variant MELA-AU 13 111941710 111941710 single base substitution C T downstream_gene_variant MELA-AU 13 111941710 111941710 single base substitution C T intron_variant MELA-AU 13 111942190 111942190 single base substitution C T downstream_gene_variant MELA-AU 13 111942190 111942190 single base substitution C T intron_variant MELA-AU 13 111942555 111942555 single base substitution C T downstream_gene_variant MELA-AU 13 111942555 111942555 single base substitution C T intron_variant MELA-AU 13 111942617 111942617 single base substitution A T downstream_gene_variant MELA-AU 13 111942617 111942617 single base substitution A T intron_variant MELA-AU 13 111942884 111942884 single base substitution C T downstream_gene_variant MELA-AU 13 111942884 111942884 single base substitution C T intron_variant MELA-AU 13 111943536 111943536 single base substitution C T downstream_gene_variant MELA-AU 13 111943536 111943536 single base substitution C T intron_variant MELA-AU 13 111943593 111943593 single base substitution C T intron_variant MELA-AU 13 111944046 111944046 single base substitution C T intron_variant MELA-AU 13 111944139 111944139 single base substitution G A intron_variant MELA-AU 13 111944277 111944277 single base substitution C T intron_variant MELA-AU 13 111944404 111944404 single base substitution C T intron_variant MELA-AU 13 111944448 111944448 single base substitution C T intron_variant MELA-AU 13 111944753 111944753 single base substitution C T 3_prime_UTR_variant MELA-AU 13 111944753 111944753 single base substitution C T intron_variant MELA-AU 13 111945063 111945063 single base substitution C T 3_prime_UTR_variant MELA-AU 13 111945063 111945063 single base substitution C T downstream_gene_variant MELA-AU 13 111945063 111945063 single base substitution C T intron_variant MELA-AU 13 111945653 111945653 single base substitution T C 3_prime_UTR_variant MELA-AU 13 111945653 111945653 single base substitution T C downstream_gene_variant MELA-AU 13 111945653 111945653 single base substitution T C intron_variant MELA-AU 13 111946221 111946221 single base substitution C T 3_prime_UTR_variant MELA-AU 13 111946221 111946221 single base substitution C T downstream_gene_variant MELA-AU 13 111946221 111946221 single base substitution C T intron_variant MELA-AU 13 111946321 111946321 single base substitution C A 3_prime_UTR_variant MELA-AU 13 111946321 111946321 single base substitution C A downstream_gene_variant MELA-AU 13 111946321 111946321 single base substitution C A intron_variant MELA-AU 13 111947786 111947786 single base substitution C T downstream_gene_variant MELA-AU 13 111947786 111947786 single base substitution C T intron_variant MELA-AU 13 111948094 111948094 single base substitution G A downstream_gene_variant MELA-AU 13 111948094 111948094 single base substitution G A intron_variant MELA-AU 13 111950057 111950057 single base substitution G A downstream_gene_variant MELA-AU 13 111950057 111950057 single base substitution G A intron_variant MELA-AU 13 111950527 111950527 single base substitution T C downstream_gene_variant MELA-AU 13 111950527 111950527 single base substitution T C intron_variant MELA-AU 13 111950580 111950580 single base substitution C T downstream_gene_variant MELA-AU 13 111950580 111950580 single base substitution C T intron_variant MELA-AU 13 111950655 111950655 single base substitution G A downstream_gene_variant MELA-AU 13 111950655 111950655 single base substitution G A intron_variant MELA-AU 13 111950912 111950912 single base substitution C T downstream_gene_variant MELA-AU 13 111950912 111950912 single base substitution C T intron_variant MELA-AU 13 111951103 111951103 single base substitution C T downstream_gene_variant MELA-AU 13 111951103 111951103 single base substitution C T intron_variant MELA-AU 13 111951558 111951558 single base substitution G A downstream_gene_variant MELA-AU 13 111951558 111951558 single base substitution G A intron_variant MELA-AU 13 111951720 111951720 single base substitution C T downstream_gene_variant MELA-AU 13 111951720 111951720 single base substitution C T intron_variant MELA-AU 13 111952192 111952192 single base substitution C T downstream_gene_variant MELA-AU 13 111952192 111952192 single base substitution C T intron_variant MELA-AU 13 111953096 111953096 single base substitution T C splice_region_variant MELA-AU 13 111954337 111954337 single base substitution T C intron_variant MELA-AU 13 111954355 111954355 single base substitution T C intron_variant MELA-AU 13 111955069 111955069 single base substitution C G intron_variant MELA-AU 13 111955323 111955323 single base substitution C T intron_variant MELA-AU 13 111955853 111955853 single base substitution C T 3_prime_UTR_variant MELA-AU 13 111955853 111955853 single base substitution C T downstream_gene_variant MELA-AU 13 111955943 111955943 single base substitution G A 3_prime_UTR_variant MELA-AU 13 111955943 111955943 single base substitution G A downstream_gene_variant MELA-AU 13 111956435 111956436 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 13 111956435 111956436 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 13 111956457 111956457 single base substitution C T 3_prime_UTR_variant MELA-AU 13 111956457 111956457 single base substitution C T downstream_gene_variant MELA-AU 13 111956748 111956749 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 13 111956748 111956749 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 13 111956962 111956963 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 13 111956962 111956963 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 13 111957205 111957205 single base substitution T A 3_prime_UTR_variant MELA-AU 13 111957205 111957205 single base substitution T A downstream_gene_variant MELA-AU 13 111958933 111958933 single base substitution C T downstream_gene_variant MELA-AU 13 111959096 111959096 single base substitution C T downstream_gene_variant MELA-AU 13 111959209 111959209 single base substitution C T downstream_gene_variant MELA-AU 13 111959480 111959480 single base substitution G T downstream_gene_variant MELA-AU 13 111959624 111959624 single base substitution C T downstream_gene_variant MELA-AU 13 111960041 111960041 single base substitution C T downstream_gene_variant MELA-AU 13 111960089 111960089 single base substitution C T downstream_gene_variant MELA-AU 13 111960103 111960103 single base substitution C T downstream_gene_variant MELA-AU 13 111960186 111960186 single base substitution A G downstream_gene_variant MELA-AU 13 111960218 111960219 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 13 111960234 111960234 single base substitution A G downstream_gene_variant MELA-AU 13 111960266 111960266 single base substitution C T downstream_gene_variant MELA-AU 13 111960585 111960585 single base substitution C T downstream_gene_variant MELA-AU 13 111960681 111960681 single base substitution C T downstream_gene_variant MELA-AU 13 111960743 111960743 single base substitution G A downstream_gene_variant MELA-AU 13 111960904 111960905 multiple base substitution (>=2bp and <=200bp) AG TA downstream_gene_variant MELA-AU 13 111960926 111960926 single base substitution C T downstream_gene_variant MELA-AU 13 111960981 111960981 single base substitution C T downstream_gene_variant MELA-AU 13 111961401 111961401 single base substitution C T downstream_gene_variant MELA-AU 13 111961993 111961993 single base substitution A G downstream_gene_variant MELA-AU 13 111962181 111962181 single base substitution C T downstream_gene_variant MELA-AU 13 111962209 111962209 single base substitution A C downstream_gene_variant MELA-AU 13 111962595 111962595 single base substitution T C downstream_gene_variant MELA-AU 13 111962766 111962766 single base substitution C T downstream_gene_variant MELA-AU 13 111962933 111962933 single base substitution C T downstream_gene_variant ORCA-IN 13 111764816 111764816 single base substitution G A upstream_gene_variant ORCA-IN 13 111773018 111773018 single base substitution G C downstream_gene_variant ORCA-IN 13 111773018 111773018 single base substitution G C intron_variant ORCA-IN 13 111794626 111794626 single base substitution C G intron_variant ORCA-IN 13 111836496 111836496 single base substitution A G intron_variant ORCA-IN 13 111836496 111836496 single base substitution A G upstream_gene_variant ORCA-IN 13 111838349 111838349 single base substitution G T intron_variant ORCA-IN 13 111838349 111838349 single base substitution G T upstream_gene_variant ORCA-IN 13 111863249 111863249 single base substitution G A intron_variant ORCA-IN 13 111867211 111867211 single base substitution G A intron_variant ORCA-IN 13 111874174 111874174 single base substitution C T downstream_gene_variant ORCA-IN 13 111874174 111874174 single base substitution C T intron_variant ORCA-IN 13 111874258 111874258 single base substitution C G downstream_gene_variant ORCA-IN 13 111874258 111874258 single base substitution C G intron_variant ORCA-IN 13 111875041 111875041 single base substitution G T downstream_gene_variant ORCA-IN 13 111875041 111875041 single base substitution G T intron_variant ORCA-IN 13 111886688 111886688 single base substitution C A intron_variant ORCA-IN 13 111896635 111896635 single base substitution G T exon_variant ORCA-IN 13 111896635 111896635 single base substitution G T intron_variant ORCA-IN 13 111896635 111896635 single base substitution G T missense_variant C158F 473G>T ORCA-IN 13 111896635 111896635 single base substitution G T missense_variant C233F 698G>T ORCA-IN 13 111896635 111896635 single base substitution G T missense_variant C243F 728G>T ORCA-IN 13 111896635 111896635 single base substitution G T missense_variant C286F 857G>T ORCA-IN 13 111896635 111896635 single base substitution G T missense_variant C315F 944G>T ORCA-IN 13 111896635 111896635 single base substitution G T missense_variant C336F 1007G>T ORCA-IN 13 111896635 111896635 single base substitution G T missense_variant C80F 239G>T ORCA-IN 13 111916658 111916658 single base substitution G C intron_variant OV-AU 13 111762643 111762643 single base substitution G A upstream_gene_variant OV-AU 13 111762814 111762814 single base substitution T G upstream_gene_variant OV-AU 13 111762855 111762855 single base substitution C G upstream_gene_variant OV-AU 13 111768526 111768526 single base substitution C A intron_variant OV-AU 13 111772800 111772800 single base substitution G A downstream_gene_variant OV-AU 13 111772800 111772800 single base substitution G A intron_variant OV-AU 13 111774454 111774454 single base substitution C T intron_variant OV-AU 13 111778452 111778452 single base substitution A G intron_variant OV-AU 13 111778829 111778829 single base substitution T A intron_variant OV-AU 13 111779088 111779088 single base substitution G C intron_variant OV-AU 13 111779480 111779480 single base substitution T C intron_variant OV-AU 13 111782250 111782250 single base substitution G T intron_variant OV-AU 13 111782416 111782416 single base substitution G A intron_variant OV-AU 13 111782747 111782747 single base substitution T C intron_variant OV-AU 13 111783214 111783214 single base substitution C A intron_variant OV-AU 13 111783344 111783344 single base substitution G T intron_variant OV-AU 13 111783863 111783863 single base substitution C T intron_variant OV-AU 13 111785235 111785235 single base substitution G T intron_variant OV-AU 13 111786199 111786199 single base substitution T C intron_variant OV-AU 13 111789617 111789617 single base substitution T G intron_variant OV-AU 13 111797387 111797387 single base substitution T C intron_variant OV-AU 13 111797388 111797388 single base substitution T C intron_variant OV-AU 13 111798262 111798262 single base substitution C A intron_variant OV-AU 13 111804491 111804491 single base substitution A G intron_variant OV-AU 13 111804491 111804491 single base substitution A G upstream_gene_variant OV-AU 13 111805046 111805046 single base substitution T C intron_variant OV-AU 13 111805046 111805046 single base substitution T C upstream_gene_variant OV-AU 13 111808399 111808399 single base substitution C T downstream_gene_variant OV-AU 13 111808399 111808399 single base substitution C T intron_variant OV-AU 13 111810993 111810993 single base substitution C G downstream_gene_variant OV-AU 13 111810993 111810993 single base substitution C G intron_variant OV-AU 13 111840253 111840253 single base substitution G A intron_variant OV-AU 13 111840329 111840329 single base substitution C G intron_variant OV-AU 13 111840515 111840515 single base substitution G A intron_variant OV-AU 13 111850789 111850789 single base substitution T C intron_variant OV-AU 13 111850789 111850789 single base substitution T C upstream_gene_variant OV-AU 13 111862718 111862718 single base substitution C T intron_variant OV-AU 13 111872097 111872097 single base substitution A C downstream_gene_variant OV-AU 13 111872097 111872097 single base substitution A C intron_variant OV-AU 13 111873506 111873506 single base substitution G A downstream_gene_variant OV-AU 13 111873506 111873506 single base substitution G A intron_variant OV-AU 13 111874603 111874603 single base substitution C G downstream_gene_variant OV-AU 13 111874603 111874603 single base substitution C G intron_variant OV-AU 13 111874673 111874673 single base substitution C G downstream_gene_variant OV-AU 13 111874673 111874673 single base substitution C G intron_variant OV-AU 13 111874701 111874701 single base substitution C T downstream_gene_variant OV-AU 13 111874701 111874701 single base substitution C T intron_variant OV-AU 13 111874875 111874875 single base substitution C T downstream_gene_variant OV-AU 13 111874875 111874875 single base substitution C T intron_variant OV-AU 13 111891717 111891717 single base substitution G C intron_variant OV-AU 13 111891717 111891717 single base substitution G C upstream_gene_variant OV-AU 13 111902878 111902878 single base substitution G C intron_variant OV-AU 13 111905284 111905284 single base substitution G T intron_variant OV-AU 13 111905913 111905913 single base substitution G T intron_variant OV-AU 13 111909225 111909225 single base substitution C G intron_variant OV-AU 13 111912451 111912451 single base substitution A T intron_variant OV-AU 13 111917509 111917509 single base substitution C T intron_variant OV-AU 13 111918774 111918774 single base substitution G T intron_variant OV-AU 13 111924213 111924213 single base substitution A C intron_variant OV-AU 13 111925960 111925960 single base substitution G C intron_variant OV-AU 13 111932089 111932089 single base substitution C A downstream_gene_variant OV-AU 13 111932089 111932089 single base substitution C A intron_variant OV-AU 13 111932089 111932089 single base substitution C A upstream_gene_variant OV-AU 13 111934778 111934778 single base substitution G A intron_variant OV-AU 13 111934778 111934778 single base substitution G A upstream_gene_variant OV-AU 13 111936749 111936749 single base substitution C G downstream_gene_variant OV-AU 13 111936749 111936749 single base substitution C G intron_variant OV-AU 13 111946662 111946662 single base substitution A T 3_prime_UTR_variant OV-AU 13 111946662 111946662 single base substitution A T downstream_gene_variant OV-AU 13 111946662 111946662 single base substitution A T intron_variant OV-AU 13 111948758 111948758 single base substitution T G downstream_gene_variant OV-AU 13 111948758 111948758 single base substitution T G intron_variant OV-AU 13 111949885 111949885 single base substitution C A downstream_gene_variant OV-AU 13 111949885 111949885 single base substitution C A intron_variant OV-AU 13 111950927 111950927 single base substitution A T downstream_gene_variant OV-AU 13 111950927 111950927 single base substitution A T intron_variant OV-AU 13 111953242 111953242 single base substitution G A intron_variant OV-AU 13 111955745 111955745 single base substitution G C 3_prime_UTR_variant OV-AU 13 111955745 111955745 single base substitution G C downstream_gene_variant OV-AU 13 111960794 111960794 single base substitution C T downstream_gene_variant OV-US 13 111938519 111938519 single base substitution T G downstream_gene_variant OV-US 13 111938519 111938519 single base substitution T G exon_variant OV-US 13 111938519 111938519 single base substitution T G missense_variant M424R 1271T>G OV-US 13 111938519 111938519 single base substitution T G missense_variant M502R 1505T>G OV-US 13 111938519 111938519 single base substitution T G missense_variant M577R 1730T>G OV-US 13 111938519 111938519 single base substitution T G missense_variant M587R 1760T>G OV-US 13 111938519 111938519 single base substitution T G missense_variant M630R 1889T>G OV-US 13 111938519 111938519 single base substitution T G missense_variant M659R 1976T>G OV-US 13 111938519 111938519 single base substitution T G missense_variant M680R 2039T>G PACA-AU 13 111763848 111763848 single base substitution G A upstream_gene_variant PACA-AU 13 111765048 111765048 single base substitution G A upstream_gene_variant PACA-AU 13 111766619 111766619 single base substitution C T upstream_gene_variant PACA-AU 13 111767955 111767955 single base substitution G A 5_prime_UTR_variant PACA-AU 13 111767955 111767955 single base substitution G A exon_variant PACA-AU 13 111767955 111767955 single base substitution G A intron_variant PACA-AU 13 111767955 111767955 single base substitution G A missense_variant E28K 82G>A PACA-AU 13 111770523 111770523 single base substitution C T downstream_gene_variant PACA-AU 13 111770523 111770523 single base substitution C T intron_variant PACA-AU 13 111772769 111772769 single base substitution C T downstream_gene_variant PACA-AU 13 111772769 111772769 single base substitution C T intron_variant PACA-AU 13 111772864 111772864 single base substitution G A downstream_gene_variant PACA-AU 13 111772864 111772864 single base substitution G A intron_variant PACA-AU 13 111773255 111773255 single base substitution T C downstream_gene_variant PACA-AU 13 111773255 111773255 single base substitution T C intron_variant PACA-AU 13 111781767 111781767 single base substitution G A intron_variant PACA-AU 13 111782972 111782972 single base substitution C T intron_variant PACA-AU 13 111783331 111783331 single base substitution A C intron_variant PACA-AU 13 111790584 111790584 single base substitution C T intron_variant PACA-AU 13 111791538 111791538 single base substitution C G intron_variant PACA-AU 13 111791665 111791665 single base substitution C T intron_variant PACA-AU 13 111795549 111795549 single base substitution G T intron_variant PACA-AU 13 111796397 111796397 single base substitution C A intron_variant PACA-AU 13 111803633 111803633 single base substitution C T intron_variant PACA-AU 13 111803633 111803633 single base substitution C T upstream_gene_variant PACA-AU 13 111805196 111805196 single base substitution T G intron_variant PACA-AU 13 111805196 111805196 single base substitution T G upstream_gene_variant PACA-AU 13 111819924 111819924 single base substitution G C intron_variant PACA-AU 13 111841713 111841713 single base substitution C T intron_variant PACA-AU 13 111849191 111849191 single base substitution C T intron_variant PACA-AU 13 111856292 111856292 single base substitution G A intron_variant PACA-AU 13 111856292 111856292 single base substitution G A upstream_gene_variant PACA-AU 13 111857417 111857417 single base substitution G C intron_variant PACA-AU 13 111857417 111857417 single base substitution G C upstream_gene_variant PACA-AU 13 111859711 111859711 single base substitution C T intron_variant PACA-AU 13 111869997 111869997 single base substitution T G intron_variant PACA-AU 13 111875266 111875266 single base substitution G T intron_variant PACA-AU 13 111878462 111878462 single base substitution G A intron_variant PACA-AU 13 111881663 111881663 single base substitution C T intron_variant PACA-AU 13 111881813 111881813 single base substitution T C intron_variant PACA-AU 13 111888353 111888353 single base substitution A G intron_variant PACA-AU 13 111889150 111889150 single base substitution G C intron_variant PACA-AU 13 111889150 111889150 single base substitution G C upstream_gene_variant PACA-AU 13 111890281 111890281 single base substitution C T intron_variant PACA-AU 13 111890281 111890281 single base substitution C T upstream_gene_variant PACA-AU 13 111899435 111899435 single base substitution A G intron_variant PACA-AU 13 111899861 111899861 single base substitution A C intron_variant PACA-AU 13 111900137 111900137 single base substitution T G intron_variant PACA-AU 13 111901008 111901008 single base substitution T C intron_variant PACA-AU 13 111904536 111904536 single base substitution A G intron_variant PACA-AU 13 111904773 111904773 single base substitution G A intron_variant PACA-AU 13 111907489 111907489 single base substitution C T intron_variant PACA-AU 13 111908671 111908671 single base substitution G A intron_variant PACA-AU 13 111914063 111914063 insertion of <=200bp - A intron_variant PACA-AU 13 111914242 111914242 single base substitution A T intron_variant PACA-AU 13 111916160 111916162 deletion of <=200bp TCC - intron_variant PACA-AU 13 111922493 111922493 single base substitution G A intron_variant PACA-AU 13 111923736 111923736 single base substitution G A intron_variant PACA-AU 13 111933485 111933485 single base substitution C A intron_variant PACA-AU 13 111933485 111933485 single base substitution C A upstream_gene_variant PACA-AU 13 111935051 111935051 single base substitution A G intron_variant PACA-AU 13 111935051 111935051 single base substitution A G upstream_gene_variant PACA-AU 13 111939777 111939777 single base substitution G T downstream_gene_variant PACA-AU 13 111939777 111939777 single base substitution G T intron_variant PACA-AU 13 111942184 111942184 single base substitution A T downstream_gene_variant PACA-AU 13 111942184 111942184 single base substitution A T intron_variant PACA-AU 13 111944543 111944543 single base substitution G A intron_variant PACA-AU 13 111944543 111944543 single base substitution G A missense_variant R503H 1508G>A PACA-AU 13 111944543 111944543 single base substitution G A missense_variant R581H 1742G>A PACA-AU 13 111944543 111944543 single base substitution G A missense_variant R709H 2126G>A PACA-AU 13 111944543 111944543 single base substitution G A missense_variant R738H 2213G>A PACA-AU 13 111944543 111944543 single base substitution G A missense_variant R759H 2276G>A PACA-AU 13 111955349 111955349 single base substitution G A synonymous_variant K610K 1830G>A PACA-AU 13 111955349 111955349 single base substitution G A synonymous_variant K669K 2007G>A PACA-AU 13 111955349 111955349 single base substitution G A synonymous_variant K685K 2055G>A PACA-AU 13 111955349 111955349 single base substitution G A synonymous_variant K695K 2085G>A PACA-AU 13 111957870 111957870 single base substitution C T 3_prime_UTR_variant PACA-AU 13 111957870 111957870 single base substitution C T downstream_gene_variant PACA-AU 13 111961357 111961357 single base substitution C G downstream_gene_variant PACA-CA 13 111763984 111763984 single base substitution G A upstream_gene_variant PACA-CA 13 111765736 111765736 single base substitution G A upstream_gene_variant PACA-CA 13 111767595 111767595 single base substitution T G 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 13 111767595 111767595 single base substitution T G intron_variant PACA-CA 13 111767595 111767595 single base substitution T G upstream_gene_variant PACA-CA 13 111769124 111769124 single base substitution A G downstream_gene_variant PACA-CA 13 111769124 111769124 single base substitution A G intron_variant PACA-CA 13 111769216 111769216 single base substitution T C downstream_gene_variant PACA-CA 13 111769216 111769216 single base substitution T C intron_variant PACA-CA 13 111769633 111769633 single base substitution A G downstream_gene_variant PACA-CA 13 111769633 111769633 single base substitution A G intron_variant PACA-CA 13 111770421 111770421 single base substitution C T downstream_gene_variant PACA-CA 13 111770421 111770421 single base substitution C T intron_variant PACA-CA 13 111770848 111770848 single base substitution A G downstream_gene_variant PACA-CA 13 111770848 111770848 single base substitution A G intron_variant PACA-CA 13 111772785 111772785 single base substitution C G downstream_gene_variant PACA-CA 13 111772785 111772785 single base substitution C G intron_variant PACA-CA 13 111774545 111774545 single base substitution T C intron_variant PACA-CA 13 111779040 111779040 single base substitution T A intron_variant PACA-CA 13 111780511 111780511 single base substitution C T intron_variant PACA-CA 13 111782165 111782165 single base substitution G A intron_variant PACA-CA 13 111782281 111782281 single base substitution T C intron_variant PACA-CA 13 111789051 111789051 single base substitution C T intron_variant PACA-CA 13 111789777 111789777 single base substitution G A intron_variant PACA-CA 13 111790777 111790777 single base substitution G A intron_variant PACA-CA 13 111794478 111794478 deletion of <=200bp T - intron_variant PACA-CA 13 111797391 111797391 single base substitution T A intron_variant PACA-CA 13 111797432 111797432 single base substitution G A intron_variant PACA-CA 13 111800532 111800532 single base substitution C T intron_variant PACA-CA 13 111801112 111801112 single base substitution G A intron_variant PACA-CA 13 111801112 111801112 single base substitution G A upstream_gene_variant PACA-CA 13 111805107 111805107 single base substitution T G intron_variant PACA-CA 13 111805107 111805107 single base substitution T G upstream_gene_variant PACA-CA 13 111807486 111807486 single base substitution G A downstream_gene_variant PACA-CA 13 111807486 111807486 single base substitution G A intron_variant PACA-CA 13 111807632 111807632 single base substitution T C downstream_gene_variant PACA-CA 13 111807632 111807632 single base substitution T C intron_variant PACA-CA 13 111808194 111808194 single base substitution G A downstream_gene_variant PACA-CA 13 111808194 111808194 single base substitution G A intron_variant PACA-CA 13 111808210 111808210 single base substitution G A downstream_gene_variant PACA-CA 13 111808210 111808210 single base substitution G A intron_variant PACA-CA 13 111821827 111821827 single base substitution T C intron_variant PACA-CA 13 111822242 111822242 single base substitution G A intron_variant PACA-CA 13 111825301 111825301 single base substitution G A intron_variant PACA-CA 13 111828863 111828863 single base substitution G A intron_variant PACA-CA 13 111829731 111829731 single base substitution C T intron_variant PACA-CA 13 111830418 111830418 single base substitution C A intron_variant PACA-CA 13 111831314 111831314 single base substitution C T intron_variant PACA-CA 13 111833447 111833447 single base substitution C G intron_variant PACA-CA 13 111833447 111833447 single base substitution C G upstream_gene_variant PACA-CA 13 111833867 111833867 single base substitution A G intron_variant PACA-CA 13 111833867 111833867 single base substitution A G upstream_gene_variant PACA-CA 13 111834172 111834172 single base substitution G A intron_variant PACA-CA 13 111834172 111834172 single base substitution G A upstream_gene_variant PACA-CA 13 111836455 111836455 single base substitution C T intron_variant PACA-CA 13 111836455 111836455 single base substitution C T upstream_gene_variant PACA-CA 13 111836482 111836482 single base substitution G A intron_variant PACA-CA 13 111836482 111836482 single base substitution G A upstream_gene_variant PACA-CA 13 111840471 111840471 single base substitution C G intron_variant PACA-CA 13 111844740 111844740 single base substitution C T intron_variant PACA-CA 13 111846971 111846971 single base substitution T C intron_variant PACA-CA 13 111848420 111848420 single base substitution G A intron_variant PACA-CA 13 111850891 111850891 single base substitution C T intron_variant PACA-CA 13 111850891 111850891 single base substitution C T upstream_gene_variant PACA-CA 13 111854018 111854018 insertion of <=200bp - T intron_variant PACA-CA 13 111854018 111854018 insertion of <=200bp - T upstream_gene_variant PACA-CA 13 111854175 111854175 single base substitution G A intron_variant PACA-CA 13 111854175 111854175 single base substitution G A upstream_gene_variant PACA-CA 13 111855712 111855712 single base substitution A G intron_variant PACA-CA 13 111855712 111855712 single base substitution A G upstream_gene_variant PACA-CA 13 111856790 111856790 single base substitution T G intron_variant PACA-CA 13 111856790 111856790 single base substitution T G upstream_gene_variant PACA-CA 13 111859586 111859586 single base substitution G A intron_variant PACA-CA 13 111859810 111859810 single base substitution T C intron_variant PACA-CA 13 111859862 111859862 single base substitution C T intron_variant PACA-CA 13 111861909 111861909 insertion of <=200bp - T intron_variant PACA-CA 13 111861910 111861910 deletion of <=200bp T - intron_variant PACA-CA 13 111864293 111864293 single base substitution G A intron_variant PACA-CA 13 111869040 111869040 single base substitution C A intron_variant PACA-CA 13 111871469 111871469 single base substitution T A downstream_gene_variant PACA-CA 13 111871469 111871469 single base substitution T A intron_variant PACA-CA 13 111877327 111877327 single base substitution G C intron_variant PACA-CA 13 111881953 111881953 single base substitution A G intron_variant PACA-CA 13 111882451 111882451 single base substitution T C intron_variant PACA-CA 13 111883588 111883588 insertion of <=200bp - T intron_variant PACA-CA 13 111886109 111886109 single base substitution G C intron_variant PACA-CA 13 111889049 111889049 single base substitution C T intron_variant PACA-CA 13 111889049 111889049 single base substitution C T upstream_gene_variant PACA-CA 13 111895088 111895088 single base substitution C T intron_variant PACA-CA 13 111896824 111896824 single base substitution G A intron_variant PACA-CA 13 111897611 111897611 deletion of <=200bp T - intron_variant PACA-CA 13 111897625 111897625 single base substitution G A intron_variant PACA-CA 13 111897717 111897717 single base substitution A T intron_variant PACA-CA 13 111912054 111912064 deletion of <=200bp CAGTGCCCAGA - intron_variant PACA-CA 13 111912105 111912105 single base substitution A G intron_variant PACA-CA 13 111918062 111918062 single base substitution G A intron_variant PACA-CA 13 111918062 111918062 single base substitution G A splice_region_variant PACA-CA 13 111918522 111918522 single base substitution G A intron_variant PACA-CA 13 111918621 111918621 single base substitution G A intron_variant PACA-CA 13 111924937 111924937 single base substitution C T intron_variant PACA-CA 13 111925436 111925436 single base substitution T C intron_variant PACA-CA 13 111928257 111928257 single base substitution C G exon_variant PACA-CA 13 111928257 111928257 single base substitution C G intron_variant PACA-CA 13 111930497 111930497 single base substitution T G downstream_gene_variant PACA-CA 13 111930497 111930497 single base substitution T G intron_variant PACA-CA 13 111930497 111930497 single base substitution T G upstream_gene_variant PACA-CA 13 111930867 111930867 single base substitution C T downstream_gene_variant PACA-CA 13 111930867 111930867 single base substitution C T intron_variant PACA-CA 13 111930867 111930867 single base substitution C T upstream_gene_variant PACA-CA 13 111930868 111930868 single base substitution G A downstream_gene_variant PACA-CA 13 111930868 111930868 single base substitution G A intron_variant PACA-CA 13 111930868 111930868 single base substitution G A upstream_gene_variant PACA-CA 13 111931306 111931306 single base substitution T C downstream_gene_variant PACA-CA 13 111931306 111931306 single base substitution T C intron_variant PACA-CA 13 111931306 111931306 single base substitution T C upstream_gene_variant PACA-CA 13 111931350 111931350 single base substitution C T downstream_gene_variant PACA-CA 13 111931350 111931350 single base substitution C T intron_variant PACA-CA 13 111931350 111931350 single base substitution C T upstream_gene_variant PACA-CA 13 111934920 111934920 single base substitution T C intron_variant PACA-CA 13 111934920 111934920 single base substitution T C upstream_gene_variant PACA-CA 13 111935284 111935284 single base substitution C T exon_variant PACA-CA 13 111935284 111935284 single base substitution C T intron_variant PACA-CA 13 111937073 111937073 single base substitution G A downstream_gene_variant PACA-CA 13 111937073 111937073 single base substitution G A intron_variant PACA-CA 13 111937894 111937894 single base substitution G A downstream_gene_variant PACA-CA 13 111937894 111937894 single base substitution G A intron_variant PACA-CA 13 111940282 111940282 single base substitution C G downstream_gene_variant PACA-CA 13 111940282 111940282 single base substitution C G intron_variant PACA-CA 13 111940670 111940670 single base substitution C T downstream_gene_variant PACA-CA 13 111940670 111940670 single base substitution C T intron_variant PACA-CA 13 111943034 111943034 single base substitution C A downstream_gene_variant PACA-CA 13 111943034 111943034 single base substitution C A intron_variant PACA-CA 13 111946237 111946255 deletion of <=200bp CCAGAGCTGCCAGGGAGCT - 3_prime_UTR_variant PACA-CA 13 111946237 111946255 deletion of <=200bp CCAGAGCTGCCAGGGAGCT - downstream_gene_variant PACA-CA 13 111946237 111946255 deletion of <=200bp CCAGAGCTGCCAGGGAGCT - intron_variant PACA-CA 13 111946605 111946605 single base substitution C T 3_prime_UTR_variant PACA-CA 13 111946605 111946605 single base substitution C T downstream_gene_variant PACA-CA 13 111946605 111946605 single base substitution C T intron_variant PACA-CA 13 111948333 111948333 single base substitution A T downstream_gene_variant PACA-CA 13 111948333 111948333 single base substitution A T intron_variant PACA-CA 13 111953359 111953359 single base substitution G A intron_variant PACA-CA 13 111955904 111955904 single base substitution G A 3_prime_UTR_variant PACA-CA 13 111955904 111955904 single base substitution G A downstream_gene_variant PACA-CA 13 111959892 111959892 single base substitution G C downstream_gene_variant PACA-CA 13 111960046 111960046 single base substitution T C downstream_gene_variant PACA-CA 13 111962031 111962031 single base substitution A G downstream_gene_variant PAEN-AU 13 111792682 111792682 single base substitution G A intron_variant PAEN-AU 13 111831431 111831431 single base substitution T C intron_variant PAEN-AU 13 111846454 111846454 single base substitution C A intron_variant PAEN-AU 13 111870701 111870701 single base substitution A G downstream_gene_variant PAEN-AU 13 111870701 111870701 single base substitution A G intron_variant PAEN-AU 13 111882747 111882747 single base substitution C G intron_variant PAEN-AU 13 111892478 111892478 single base substitution G T intron_variant PAEN-AU 13 111892478 111892478 single base substitution G T upstream_gene_variant PAEN-AU 13 111946263 111946263 single base substitution G C 3_prime_UTR_variant PAEN-AU 13 111946263 111946263 single base substitution G C downstream_gene_variant PAEN-AU 13 111946263 111946263 single base substitution G C intron_variant PAEN-AU 13 111962483 111962483 single base substitution A G downstream_gene_variant PAEN-IT 13 111803369 111803369 single base substitution G C intron_variant PAEN-IT 13 111803369 111803369 single base substitution G C upstream_gene_variant PAEN-IT 13 111832272 111832272 single base substitution G T intron_variant PAEN-IT 13 111847777 111847777 single base substitution G T intron_variant PAEN-IT 13 111928445 111928445 single base substitution G A downstream_gene_variant PAEN-IT 13 111928445 111928445 single base substitution G A intron_variant PBCA-DE 13 111764519 111764519 single base substitution T C upstream_gene_variant PBCA-DE 13 111769736 111769736 single base substitution C T downstream_gene_variant PBCA-DE 13 111769736 111769736 single base substitution C T intron_variant PBCA-DE 13 111775449 111775449 single base substitution T A intron_variant PBCA-DE 13 111777473 111777473 insertion of <=200bp - T intron_variant PBCA-DE 13 111785593 111785593 single base substitution C T intron_variant PBCA-DE 13 111786005 111786005 single base substitution G T intron_variant PBCA-DE 13 111795430 111795430 single base substitution C T intron_variant PBCA-DE 13 111801816 111801816 single base substitution T C intron_variant PBCA-DE 13 111801816 111801816 single base substitution T C upstream_gene_variant PBCA-DE 13 111802660 111802660 single base substitution G T intron_variant PBCA-DE 13 111802660 111802660 single base substitution G T upstream_gene_variant PBCA-DE 13 111807355 111807355 deletion of <=200bp A - downstream_gene_variant PBCA-DE 13 111807355 111807355 deletion of <=200bp A - intron_variant PBCA-DE 13 111815738 111815739 deletion of <=200bp AG - intron_variant PBCA-DE 13 111833990 111833990 single base substitution G C intron_variant PBCA-DE 13 111833990 111833990 single base substitution G C upstream_gene_variant PBCA-DE 13 111841989 111841989 deletion of <=200bp C - intron_variant PBCA-DE 13 111844435 111844435 single base substitution T G intron_variant PBCA-DE 13 111844718 111844718 insertion of <=200bp - T intron_variant PBCA-DE 13 111849090 111849123 deletion of <=200bp AAGCTGAGAGGTCCTCCTGTGGGACATAAATTGC - intron_variant PBCA-DE 13 111850546 111850546 single base substitution G A intron_variant PBCA-DE 13 111850546 111850546 single base substitution G A upstream_gene_variant PBCA-DE 13 111858720 111858720 single base substitution T C intron_variant PBCA-DE 13 111860196 111860196 single base substitution G A intron_variant PBCA-DE 13 111873646 111873646 single base substitution G A downstream_gene_variant PBCA-DE 13 111873646 111873646 single base substitution G A intron_variant PBCA-DE 13 111873677 111873677 single base substitution T G downstream_gene_variant PBCA-DE 13 111873677 111873677 single base substitution T G intron_variant PBCA-DE 13 111873679 111873679 single base substitution T C downstream_gene_variant PBCA-DE 13 111873679 111873679 single base substitution T C intron_variant PBCA-DE 13 111881643 111881643 single base substitution G A intron_variant PBCA-DE 13 111899453 111899453 single base substitution G A intron_variant PBCA-DE 13 111903526 111903526 single base substitution C T intron_variant PBCA-DE 13 111906812 111906812 single base substitution G A intron_variant PBCA-DE 13 111906818 111906818 single base substitution A G intron_variant PBCA-DE 13 111908165 111908165 single base substitution T G intron_variant PBCA-DE 13 111916807 111916807 single base substitution G A intron_variant PBCA-DE 13 111932801 111932801 single base substitution G C downstream_gene_variant PBCA-DE 13 111932801 111932801 single base substitution G C intron_variant PBCA-DE 13 111932801 111932801 single base substitution G C upstream_gene_variant PBCA-DE 13 111934181 111934181 single base substitution C T intron_variant PBCA-DE 13 111934181 111934181 single base substitution C T upstream_gene_variant PBCA-DE 13 111937897 111937897 single base substitution G A downstream_gene_variant PBCA-DE 13 111937897 111937897 single base substitution G A intron_variant PBCA-DE 13 111939493 111939493 single base substitution G C downstream_gene_variant PBCA-DE 13 111939493 111939493 single base substitution G C intron_variant PBCA-DE 13 111939644 111939644 single base substitution C A downstream_gene_variant PBCA-DE 13 111939644 111939644 single base substitution C A intron_variant PBCA-DE 13 111943719 111943736 deletion of <=200bp ACAGCAGAGGGTCTGCAT - intron_variant PBCA-DE 13 111954457 111954457 single base substitution C T intron_variant PBCA-DE 13 111954722 111954722 single base substitution G T intron_variant PBCA-DE 13 111959237 111959237 single base substitution C A downstream_gene_variant PRAD-CA 13 111764898 111764898 single base substitution A G upstream_gene_variant PRAD-CA 13 111823299 111823299 single base substitution C G intron_variant PRAD-CA 13 111838430 111838430 single base substitution C T intron_variant PRAD-CA 13 111838430 111838430 single base substitution C T upstream_gene_variant PRAD-CA 13 111842986 111842986 single base substitution G T intron_variant PRAD-CA 13 111870530 111870530 single base substitution T A downstream_gene_variant PRAD-CA 13 111870530 111870530 single base substitution T A intron_variant PRAD-CA 13 111896575 111896575 single base substitution T C exon_variant PRAD-CA 13 111896575 111896575 single base substitution T C intron_variant PRAD-CA 13 111896575 111896575 single base substitution T C missense_variant M138T 413T>C PRAD-CA 13 111896575 111896575 single base substitution T C missense_variant M213T 638T>C PRAD-CA 13 111896575 111896575 single base substitution T C missense_variant M223T 668T>C PRAD-CA 13 111896575 111896575 single base substitution T C missense_variant M266T 797T>C PRAD-CA 13 111896575 111896575 single base substitution T C missense_variant M295T 884T>C PRAD-CA 13 111896575 111896575 single base substitution T C missense_variant M316T 947T>C PRAD-CA 13 111896575 111896575 single base substitution T C missense_variant M60T 179T>C PRAD-CA 13 111902670 111902670 single base substitution G T intron_variant PRAD-CA 13 111907543 111907543 single base substitution G C intron_variant PRAD-CA 13 111918176 111918176 single base substitution G T intron_variant PRAD-CA 13 111924255 111924255 single base substitution C T intron_variant PRAD-CA 13 111933199 111933199 single base substitution T C downstream_gene_variant PRAD-CA 13 111933199 111933199 single base substitution T C intron_variant PRAD-CA 13 111933199 111933199 single base substitution T C upstream_gene_variant PRAD-CA 13 111960094 111960094 single base substitution T C downstream_gene_variant PRAD-CA 13 111960268 111960268 single base substitution G A downstream_gene_variant PRAD-UK 13 111782598 111782598 single base substitution C T intron_variant PRAD-UK 13 111784909 111784909 single base substitution A G intron_variant PRAD-UK 13 111789269 111789269 single base substitution G A intron_variant PRAD-UK 13 111791832 111791832 insertion of <=200bp - G intron_variant PRAD-UK 13 111803131 111803131 single base substitution C T intron_variant PRAD-UK 13 111803131 111803131 single base substitution C T upstream_gene_variant PRAD-UK 13 111808367 111808367 single base substitution G C downstream_gene_variant PRAD-UK 13 111808367 111808367 single base substitution G C intron_variant PRAD-UK 13 111832551 111832551 single base substitution T C intron_variant PRAD-UK 13 111832551 111832551 single base substitution T C upstream_gene_variant PRAD-UK 13 111832569 111832569 single base substitution C A intron_variant PRAD-UK 13 111832569 111832569 single base substitution C A upstream_gene_variant PRAD-UK 13 111844906 111844906 single base substitution T C intron_variant PRAD-UK 13 111878008 111878011 deletion of <=200bp ATCT - intron_variant PRAD-UK 13 111894457 111894457 single base substitution C T intron_variant PRAD-UK 13 111928451 111928451 single base substitution T C downstream_gene_variant PRAD-UK 13 111928451 111928451 single base substitution T C intron_variant PRAD-UK 13 111930413 111930413 single base substitution G A downstream_gene_variant PRAD-UK 13 111930413 111930413 single base substitution G A intron_variant PRAD-UK 13 111930413 111930413 single base substitution G A upstream_gene_variant PRAD-UK 13 111945252 111945252 single base substitution G A 3_prime_UTR_variant PRAD-UK 13 111945252 111945252 single base substitution G A downstream_gene_variant PRAD-UK 13 111945252 111945252 single base substitution G A intron_variant PRAD-UK 13 111949205 111949205 single base substitution C T downstream_gene_variant PRAD-UK 13 111949205 111949205 single base substitution C T intron_variant PRAD-UK 13 111953673 111953673 single base substitution G A intron_variant PRAD-UK 13 111956101 111956101 single base substitution C T 3_prime_UTR_variant PRAD-UK 13 111956101 111956101 single base substitution C T downstream_gene_variant READ-US 13 111896589 111896589 single base substitution G A exon_variant READ-US 13 111896589 111896589 single base substitution G A intron_variant READ-US 13 111896589 111896589 single base substitution G A missense_variant E143K 427G>A READ-US 13 111896589 111896589 single base substitution G A missense_variant E218K 652G>A READ-US 13 111896589 111896589 single base substitution G A missense_variant E228K 682G>A READ-US 13 111896589 111896589 single base substitution G A missense_variant E271K 811G>A READ-US 13 111896589 111896589 single base substitution G A missense_variant E300K 898G>A READ-US 13 111896589 111896589 single base substitution G A missense_variant E321K 961G>A READ-US 13 111896589 111896589 single base substitution G A missense_variant E65K 193G>A READ-US 13 111944633 111944633 single base substitution C T intron_variant READ-US 13 111944633 111944633 single base substitution C T missense_variant S533F 1598C>T READ-US 13 111944633 111944633 single base substitution C T missense_variant S611F 1832C>T READ-US 13 111944633 111944633 single base substitution C T missense_variant S739F 2216C>T READ-US 13 111944633 111944633 single base substitution C T missense_variant S768F 2303C>T READ-US 13 111944633 111944633 single base substitution C T missense_variant S789F 2366C>T RECA-EU 13 111768683 111768683 single base substitution G T intron_variant RECA-EU 13 111804506 111804506 single base substitution T A intron_variant RECA-EU 13 111804506 111804506 single base substitution T A upstream_gene_variant RECA-EU 13 111815653 111815653 single base substitution T G intron_variant RECA-EU 13 111829160 111829160 single base substitution A T intron_variant RECA-EU 13 111833140 111833140 single base substitution A T intron_variant RECA-EU 13 111833140 111833140 single base substitution A T upstream_gene_variant RECA-EU 13 111835085 111835085 single base substitution C T intron_variant RECA-EU 13 111835085 111835085 single base substitution C T upstream_gene_variant RECA-EU 13 111837112 111837112 single base substitution G T intron_variant RECA-EU 13 111837112 111837112 single base substitution G T upstream_gene_variant RECA-EU 13 111846024 111846024 single base substitution A C intron_variant RECA-EU 13 111854419 111854419 single base substitution T A intron_variant RECA-EU 13 111854419 111854419 single base substitution T A upstream_gene_variant RECA-EU 13 111874933 111874933 single base substitution T C downstream_gene_variant RECA-EU 13 111874933 111874933 single base substitution T C intron_variant RECA-EU 13 111879410 111879410 single base substitution G A intron_variant RECA-EU 13 111903297 111903297 single base substitution G T intron_variant RECA-EU 13 111918772 111918772 single base substitution T C intron_variant RECA-EU 13 111919968 111919968 single base substitution A T 3_prime_UTR_variant RECA-EU 13 111919968 111919968 single base substitution A T exon_variant RECA-EU 13 111919968 111919968 single base substitution A T missense_variant H65L 194A>T RECA-EU 13 111919968 111919968 single base substitution A T missense_variant T107S 319A>T RECA-EU 13 111919968 111919968 single base substitution A T missense_variant T185S 553A>T RECA-EU 13 111919968 111919968 single base substitution A T missense_variant T260S 778A>T RECA-EU 13 111919968 111919968 single base substitution A T missense_variant T270S 808A>T RECA-EU 13 111919968 111919968 single base substitution A T missense_variant T313S 937A>T RECA-EU 13 111919968 111919968 single base substitution A T missense_variant T342S 1024A>T RECA-EU 13 111919968 111919968 single base substitution A T missense_variant T363S 1087A>T RECA-EU 13 111931549 111931549 single base substitution T A downstream_gene_variant RECA-EU 13 111931549 111931549 single base substitution T A intron_variant RECA-EU 13 111931549 111931549 single base substitution T A upstream_gene_variant RECA-EU 13 111945551 111945551 single base substitution T G 3_prime_UTR_variant RECA-EU 13 111945551 111945551 single base substitution T G downstream_gene_variant RECA-EU 13 111945551 111945551 single base substitution T G intron_variant RECA-EU 13 111946353 111946353 single base substitution T C 3_prime_UTR_variant RECA-EU 13 111946353 111946353 single base substitution T C downstream_gene_variant RECA-EU 13 111946353 111946353 single base substitution T C intron_variant RECA-EU 13 111948940 111948940 single base substitution T A downstream_gene_variant RECA-EU 13 111948940 111948940 single base substitution T A intron_variant RECA-EU 13 111949677 111949677 single base substitution A C downstream_gene_variant RECA-EU 13 111949677 111949677 single base substitution A C intron_variant RECA-EU 13 111956458 111956458 single base substitution C T 3_prime_UTR_variant RECA-EU 13 111956458 111956458 single base substitution C T downstream_gene_variant RECA-EU 13 111957491 111957491 single base substitution C G 3_prime_UTR_variant RECA-EU 13 111957491 111957491 single base substitution C G downstream_gene_variant SKCA-BR 13 111763598 111763598 single base substitution G A upstream_gene_variant SKCA-BR 13 111765688 111765688 single base substitution G A upstream_gene_variant SKCA-BR 13 111766647 111766647 single base substitution G A upstream_gene_variant SKCA-BR 13 111767050 111767050 single base substitution T C 5_prime_UTR_variant SKCA-BR 13 111767050 111767050 single base substitution T C exon_variant SKCA-BR 13 111767050 111767050 single base substitution T C upstream_gene_variant SKCA-BR 13 111767325 111767325 single base substitution C G 5_prime_UTR_variant SKCA-BR 13 111767325 111767325 single base substitution C G exon_variant SKCA-BR 13 111767325 111767325 single base substitution C G upstream_gene_variant SKCA-BR 13 111767431 111767431 single base substitution A C 5_prime_UTR_variant SKCA-BR 13 111767431 111767431 single base substitution A C intron_variant SKCA-BR 13 111767431 111767431 single base substitution A C upstream_gene_variant SKCA-BR 13 111767442 111767442 single base substitution C T 5_prime_UTR_variant SKCA-BR 13 111767442 111767442 single base substitution C T intron_variant SKCA-BR 13 111767442 111767442 single base substitution C T upstream_gene_variant SKCA-BR 13 111767480 111767480 single base substitution T C 5_prime_UTR_variant SKCA-BR 13 111767480 111767480 single base substitution T C intron_variant SKCA-BR 13 111767480 111767480 single base substitution T C upstream_gene_variant SKCA-BR 13 111768231 111768231 single base substitution A G intron_variant SKCA-BR 13 111768250 111768250 single base substitution T G intron_variant SKCA-BR 13 111768258 111768258 single base substitution A G intron_variant SKCA-BR 13 111768646 111768646 insertion of <=200bp - GT intron_variant SKCA-BR 13 111774926 111774926 single base substitution A G intron_variant SKCA-BR 13 111775948 111775948 single base substitution C T intron_variant SKCA-BR 13 111776748 111776748 single base substitution C T intron_variant SKCA-BR 13 111779869 111779869 single base substitution C T intron_variant SKCA-BR 13 111780016 111780021 deletion of <=200bp AAAAAG - intron_variant SKCA-BR 13 111780017 111780021 deletion of <=200bp AAAAG - intron_variant SKCA-BR 13 111780879 111780879 single base substitution C T intron_variant SKCA-BR 13 111783021 111783021 single base substitution G A intron_variant SKCA-BR 13 111783454 111783454 single base substitution A G intron_variant SKCA-BR 13 111784957 111784957 single base substitution G A intron_variant SKCA-BR 13 111786155 111786155 single base substitution T A intron_variant SKCA-BR 13 111787198 111787198 single base substitution G A intron_variant SKCA-BR 13 111787199 111787199 single base substitution T A intron_variant SKCA-BR 13 111787411 111787411 single base substitution C T intron_variant SKCA-BR 13 111788046 111788046 single base substitution A G intron_variant SKCA-BR 13 111789503 111789503 single base substitution T A intron_variant SKCA-BR 13 111795422 111795422 single base substitution G C intron_variant SKCA-BR 13 111795572 111795572 single base substitution T C intron_variant SKCA-BR 13 111796677 111796677 single base substitution C T intron_variant SKCA-BR 13 111797431 111797431 single base substitution C T intron_variant SKCA-BR 13 111800575 111800575 single base substitution T C intron_variant SKCA-BR 13 111801045 111801045 single base substitution C T intron_variant SKCA-BR 13 111801045 111801045 single base substitution C T upstream_gene_variant SKCA-BR 13 111801434 111801434 single base substitution A G intron_variant SKCA-BR 13 111801434 111801434 single base substitution A G upstream_gene_variant SKCA-BR 13 111803320 111803320 single base substitution A C intron_variant SKCA-BR 13 111803320 111803320 single base substitution A C upstream_gene_variant SKCA-BR 13 111803629 111803629 single base substitution C A intron_variant SKCA-BR 13 111803629 111803629 single base substitution C A upstream_gene_variant SKCA-BR 13 111805107 111805107 single base substitution T G intron_variant SKCA-BR 13 111805107 111805107 single base substitution T G upstream_gene_variant SKCA-BR 13 111805560 111805560 single base substitution C T intron_variant SKCA-BR 13 111805560 111805560 single base substitution C T upstream_gene_variant SKCA-BR 13 111807982 111807982 single base substitution A T downstream_gene_variant SKCA-BR 13 111807982 111807982 single base substitution A T intron_variant SKCA-BR 13 111809822 111809822 single base substitution T G downstream_gene_variant SKCA-BR 13 111809822 111809822 single base substitution T G intron_variant SKCA-BR 13 111813007 111813007 single base substitution A T intron_variant SKCA-BR 13 111813666 111813666 single base substitution C T intron_variant SKCA-BR 13 111818360 111818360 single base substitution C T intron_variant SKCA-BR 13 111820358 111820358 single base substitution T G intron_variant SKCA-BR 13 111822760 111822760 single base substitution C T intron_variant SKCA-BR 13 111824922 111824922 single base substitution C A intron_variant SKCA-BR 13 111843249 111843249 single base substitution A G intron_variant SKCA-BR 13 111843250 111843250 single base substitution G T intron_variant SKCA-BR 13 111843258 111843258 single base substitution T C intron_variant SKCA-BR 13 111843456 111843456 single base substitution G A intron_variant SKCA-BR 13 111845764 111845764 single base substitution C T intron_variant SKCA-BR 13 111846244 111846244 single base substitution T G intron_variant SKCA-BR 13 111850539 111850539 single base substitution T C intron_variant SKCA-BR 13 111850539 111850539 single base substitution T C upstream_gene_variant SKCA-BR 13 111851829 111851829 single base substitution C T intron_variant SKCA-BR 13 111851829 111851829 single base substitution C T upstream_gene_variant SKCA-BR 13 111852351 111852351 single base substitution T G intron_variant SKCA-BR 13 111852351 111852351 single base substitution T G upstream_gene_variant SKCA-BR 13 111853395 111853395 single base substitution C T intron_variant SKCA-BR 13 111853395 111853395 single base substitution C T upstream_gene_variant SKCA-BR 13 111853804 111853804 single base substitution C T intron_variant SKCA-BR 13 111853804 111853804 single base substitution C T upstream_gene_variant SKCA-BR 13 111855712 111855712 single base substitution A G intron_variant SKCA-BR 13 111855712 111855712 single base substitution A G upstream_gene_variant SKCA-BR 13 111859323 111859323 single base substitution G A intron_variant SKCA-BR 13 111873485 111873513 deletion of <=200bp CATATATATATAGATATATATGTCTATAT - downstream_gene_variant SKCA-BR 13 111873485 111873513 deletion of <=200bp CATATATATATAGATATATATGTCTATAT - intron_variant SKCA-BR 13 111873490 111873490 single base substitution A C downstream_gene_variant SKCA-BR 13 111873490 111873490 single base substitution A C intron_variant SKCA-BR 13 111873546 111873546 insertion of <=200bp - CTA downstream_gene_variant SKCA-BR 13 111873546 111873546 insertion of <=200bp - CTA intron_variant SKCA-BR 13 111873562 111873562 single base substitution G A downstream_gene_variant SKCA-BR 13 111873562 111873562 single base substitution G A intron_variant SKCA-BR 13 111873563 111873563 single base substitution T G downstream_gene_variant SKCA-BR 13 111873563 111873563 single base substitution T G intron_variant SKCA-BR 13 111873564 111873564 single base substitution C A downstream_gene_variant SKCA-BR 13 111873564 111873564 single base substitution C A intron_variant SKCA-BR 13 111873565 111873565 single base substitution T C downstream_gene_variant SKCA-BR 13 111873565 111873565 single base substitution T C intron_variant SKCA-BR 13 111873742 111873742 single base substitution A C downstream_gene_variant SKCA-BR 13 111873742 111873742 single base substitution A C intron_variant SKCA-BR 13 111873760 111873764 deletion of <=200bp ATGTC - downstream_gene_variant SKCA-BR 13 111873760 111873764 deletion of <=200bp ATGTC - intron_variant SKCA-BR 13 111873779 111873779 insertion of <=200bp - TATAG downstream_gene_variant SKCA-BR 13 111873779 111873779 insertion of <=200bp - TATAG intron_variant SKCA-BR 13 111873789 111873789 single base substitution T C downstream_gene_variant SKCA-BR 13 111873789 111873789 single base substitution T C intron_variant SKCA-BR 13 111873827 111873829 deletion of <=200bp GAT - downstream_gene_variant SKCA-BR 13 111873827 111873829 deletion of <=200bp GAT - intron_variant SKCA-BR 13 111873906 111873906 single base substitution C A downstream_gene_variant SKCA-BR 13 111873906 111873906 single base substitution C A intron_variant SKCA-BR 13 111873908 111873908 single base substitution A C downstream_gene_variant SKCA-BR 13 111873908 111873908 single base substitution A C intron_variant SKCA-BR 13 111876205 111876206 deletion of <=200bp AT - intron_variant SKCA-BR 13 111876753 111876753 single base substitution A G intron_variant SKCA-BR 13 111878483 111878483 single base substitution A C intron_variant SKCA-BR 13 111878531 111878531 single base substitution A G intron_variant SKCA-BR 13 111888161 111888161 single base substitution C T intron_variant SKCA-BR 13 111890223 111890223 single base substitution T A intron_variant SKCA-BR 13 111890223 111890223 single base substitution T A upstream_gene_variant SKCA-BR 13 111893709 111893709 single base substitution C T intron_variant SKCA-BR 13 111897813 111897813 single base substitution A G intron_variant SKCA-BR 13 111897841 111897841 single base substitution T C intron_variant SKCA-BR 13 111899535 111899535 single base substitution T A intron_variant SKCA-BR 13 111899536 111899536 single base substitution C T intron_variant SKCA-BR 13 111916345 111916345 single base substitution G C intron_variant SKCA-BR 13 111916748 111916748 single base substitution T G intron_variant SKCA-BR 13 111916791 111916791 single base substitution A G intron_variant SKCA-BR 13 111917354 111917354 single base substitution C T intron_variant SKCA-BR 13 111918264 111918264 single base substitution G A intron_variant SKCA-BR 13 111918265 111918265 single base substitution G A intron_variant SKCA-BR 13 111919973 111919973 single base substitution T A 3_prime_UTR_variant SKCA-BR 13 111919973 111919973 single base substitution T A exon_variant SKCA-BR 13 111919973 111919973 single base substitution T A missense_variant L67M 199T>A SKCA-BR 13 111919973 111919973 single base substitution T A stop_gained Y108* 324T>A SKCA-BR 13 111919973 111919973 single base substitution T A stop_gained Y186* 558T>A SKCA-BR 13 111919973 111919973 single base substitution T A stop_gained Y261* 783T>A SKCA-BR 13 111919973 111919973 single base substitution T A stop_gained Y271* 813T>A SKCA-BR 13 111919973 111919973 single base substitution T A stop_gained Y314* 942T>A SKCA-BR 13 111919973 111919973 single base substitution T A stop_gained Y343* 1029T>A SKCA-BR 13 111919973 111919973 single base substitution T A stop_gained Y364* 1092T>A SKCA-BR 13 111926482 111926482 single base substitution C T intron_variant SKCA-BR 13 111927282 111927282 single base substitution T G intron_variant SKCA-BR 13 111928970 111928970 single base substitution A T downstream_gene_variant SKCA-BR 13 111928970 111928970 single base substitution A T intron_variant SKCA-BR 13 111930297 111930297 single base substitution C T downstream_gene_variant SKCA-BR 13 111930297 111930297 single base substitution C T intron_variant SKCA-BR 13 111930297 111930297 single base substitution C T upstream_gene_variant SKCA-BR 13 111930833 111930833 single base substitution C T downstream_gene_variant SKCA-BR 13 111930833 111930833 single base substitution C T intron_variant SKCA-BR 13 111930833 111930833 single base substitution C T upstream_gene_variant SKCA-BR 13 111934467 111934467 single base substitution C T intron_variant SKCA-BR 13 111934467 111934467 single base substitution C T upstream_gene_variant SKCA-BR 13 111935818 111935818 single base substitution C T downstream_gene_variant SKCA-BR 13 111935818 111935818 single base substitution C T intron_variant SKCA-BR 13 111936711 111936711 single base substitution C T downstream_gene_variant SKCA-BR 13 111936711 111936711 single base substitution C T intron_variant SKCA-BR 13 111939307 111939307 single base substitution C T downstream_gene_variant SKCA-BR 13 111939307 111939307 single base substitution C T intron_variant SKCA-BR 13 111941379 111941379 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 13 111941379 111941379 insertion of <=200bp - CT intron_variant SKCA-BR 13 111947825 111947825 single base substitution G T downstream_gene_variant SKCA-BR 13 111947825 111947825 single base substitution G T intron_variant SKCA-BR 13 111947870 111947870 single base substitution A T downstream_gene_variant SKCA-BR 13 111947870 111947870 single base substitution A T intron_variant SKCA-BR 13 111947899 111947899 single base substitution G T downstream_gene_variant SKCA-BR 13 111947899 111947899 single base substitution G T intron_variant SKCA-BR 13 111948467 111948467 single base substitution G A downstream_gene_variant SKCA-BR 13 111948467 111948467 single base substitution G A intron_variant SKCA-BR 13 111948892 111948892 single base substitution C T downstream_gene_variant SKCA-BR 13 111948892 111948892 single base substitution C T intron_variant SKCA-BR 13 111950902 111950902 single base substitution C T downstream_gene_variant SKCA-BR 13 111950902 111950902 single base substitution C T intron_variant SKCA-BR 13 111951684 111951684 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 13 111951684 111951684 insertion of <=200bp - AT intron_variant SKCA-BR 13 111954112 111954112 single base substitution T G intron_variant SKCA-BR 13 111954396 111954396 single base substitution C T intron_variant SKCA-BR 13 111956188 111956188 single base substitution C T 3_prime_UTR_variant SKCA-BR 13 111956188 111956188 single base substitution C T downstream_gene_variant SKCA-BR 13 111960163 111960163 single base substitution G A downstream_gene_variant SKCA-BR 13 111960460 111960460 single base substitution A G downstream_gene_variant SKCA-BR 13 111960918 111960918 single base substitution C T downstream_gene_variant SKCA-BR 13 111961987 111961987 single base substitution G A downstream_gene_variant SKCA-BR 13 111962570 111962570 single base substitution A G downstream_gene_variant SKCM-US 13 111768020 111768020 single base substitution C T 5_prime_UTR_variant SKCM-US 13 111768020 111768020 single base substitution C T exon_variant SKCM-US 13 111768020 111768020 single base substitution C T intron_variant SKCM-US 13 111768020 111768020 single base substitution C T synonymous_variant L49L 147C>T SKCM-US 13 111857668 111857668 single base substitution G A 5_prime_UTR_variant SKCM-US 13 111857668 111857668 single base substitution G A intron_variant SKCM-US 13 111857668 111857668 single base substitution G A synonymous_variant Q116Q 348G>A SKCM-US 13 111857668 111857668 single base substitution G A synonymous_variant Q13Q 39G>A SKCM-US 13 111857668 111857668 single base substitution G A synonymous_variant Q66Q 198G>A SKCM-US 13 111857668 111857668 single base substitution G A synonymous_variant Q95Q 285G>A SKCM-US 13 111896267 111896267 single base substitution C T exon_variant SKCM-US 13 111896267 111896267 single base substitution C T intron_variant SKCM-US 13 111896267 111896267 single base substitution C T stop_gained Q113* 337C>T SKCM-US 13 111896267 111896267 single base substitution C T stop_gained Q188* 562C>T SKCM-US 13 111896267 111896267 single base substitution C T stop_gained Q198* 592C>T SKCM-US 13 111896267 111896267 single base substitution C T stop_gained Q241* 721C>T SKCM-US 13 111896267 111896267 single base substitution C T stop_gained Q270* 808C>T SKCM-US 13 111896267 111896267 single base substitution C T stop_gained Q291* 871C>T SKCM-US 13 111896267 111896267 single base substitution C T stop_gained Q35* 103C>T SKCM-US 13 111926203 111926203 single base substitution C T exon_variant SKCM-US 13 111926203 111926203 single base substitution C T intron_variant SKCM-US 13 111926203 111926203 single base substitution C T synonymous_variant S137S 411C>T SKCM-US 13 111926203 111926203 single base substitution C T synonymous_variant S215S 645C>T SKCM-US 13 111926203 111926203 single base substitution C T synonymous_variant S290S 870C>T SKCM-US 13 111926203 111926203 single base substitution C T synonymous_variant S300S 900C>T SKCM-US 13 111926203 111926203 single base substitution C T synonymous_variant S343S 1029C>T SKCM-US 13 111926203 111926203 single base substitution C T synonymous_variant S372S 1116C>T SKCM-US 13 111926203 111926203 single base substitution C T synonymous_variant S393S 1179C>T SKCM-US 13 111935541 111935541 single base substitution C T 3_prime_UTR_variant SKCM-US 13 111935541 111935541 single base substitution C T exon_variant SKCM-US 13 111935541 111935541 single base substitution C T missense_variant P359L 1076C>T SKCM-US 13 111935541 111935541 single base substitution C T missense_variant P437L 1310C>T SKCM-US 13 111935541 111935541 single base substitution C T missense_variant P512L 1535C>T SKCM-US 13 111935541 111935541 single base substitution C T missense_variant P522L 1565C>T SKCM-US 13 111935541 111935541 single base substitution C T missense_variant P565L 1694C>T SKCM-US 13 111935541 111935541 single base substitution C T missense_variant P594L 1781C>T SKCM-US 13 111935541 111935541 single base substitution C T missense_variant P615L 1844C>T SKCM-US 13 111944655 111944655 single base substitution C G intron_variant SKCM-US 13 111944655 111944655 single base substitution C G missense_variant C540W 1620C>G SKCM-US 13 111944655 111944655 single base substitution C G missense_variant C618W 1854C>G SKCM-US 13 111944655 111944655 single base substitution C G missense_variant C746W 2238C>G SKCM-US 13 111944655 111944655 single base substitution C G missense_variant C775W 2325C>G SKCM-US 13 111944655 111944655 single base substitution C G missense_variant C796W 2388C>G SKCM-US 13 111953096 111953096 single base substitution T C splice_region_variant SKCM-US 13 111955450 111955450 single base substitution C T missense_variant T644I 1931C>T SKCM-US 13 111955450 111955450 single base substitution C T missense_variant T703I 2108C>T SKCM-US 13 111955450 111955450 single base substitution C T missense_variant T719I 2156C>T SKCM-US 13 111955450 111955450 single base substitution C T missense_variant T729I 2186C>T STAD-US 13 111767941 111767941 single base substitution C A 5_prime_UTR_variant STAD-US 13 111767941 111767941 single base substitution C A exon_variant STAD-US 13 111767941 111767941 single base substitution C A intron_variant STAD-US 13 111767941 111767941 single base substitution C A missense_variant T23N 68C>A STAD-US 13 111862257 111862257 single base substitution T C 5_prime_UTR_variant STAD-US 13 111862257 111862257 single base substitution T C intron_variant STAD-US 13 111862257 111862257 single base substitution T C missense_variant S126P 376T>C STAD-US 13 111862257 111862257 single base substitution T C missense_variant S147P 439T>C STAD-US 13 111862257 111862257 single base substitution T C missense_variant S44P 130T>C STAD-US 13 111862257 111862257 single base substitution T C missense_variant S97P 289T>C STAD-US 13 111870075 111870075 single base substitution A G 5_prime_UTR_variant STAD-US 13 111870075 111870075 single base substitution A G exon_variant STAD-US 13 111870075 111870075 single base substitution A G missense_variant N101S 302A>G STAD-US 13 111870075 111870075 single base substitution A G missense_variant N144S 431A>G STAD-US 13 111870075 111870075 single base substitution A G missense_variant N16S 47A>G STAD-US 13 111870075 111870075 single base substitution A G missense_variant N173S 518A>G STAD-US 13 111870075 111870075 single base substitution A G missense_variant N194S 581A>G STAD-US 13 111870075 111870075 single base substitution A G missense_variant N91S 272A>G STAD-US 13 111926266 111926266 single base substitution T C exon_variant STAD-US 13 111926266 111926266 single base substitution T C intron_variant STAD-US 13 111926266 111926266 single base substitution T C synonymous_variant P158P 474T>C STAD-US 13 111926266 111926266 single base substitution T C synonymous_variant P236P 708T>C STAD-US 13 111926266 111926266 single base substitution T C synonymous_variant P311P 933T>C STAD-US 13 111926266 111926266 single base substitution T C synonymous_variant P321P 963T>C STAD-US 13 111926266 111926266 single base substitution T C synonymous_variant P364P 1092T>C STAD-US 13 111926266 111926266 single base substitution T C synonymous_variant P393P 1179T>C STAD-US 13 111926266 111926266 single base substitution T C synonymous_variant P414P 1242T>C STAD-US 13 111927973 111927973 single base substitution T C 3_prime_UTR_variant STAD-US 13 111927973 111927973 single base substitution T C exon_variant STAD-US 13 111927973 111927973 single base substitution T C missense_variant L133P 398T>C STAD-US 13 111927973 111927973 single base substitution T C missense_variant L221P 662T>C STAD-US 13 111927973 111927973 single base substitution T C missense_variant L299P 896T>C STAD-US 13 111927973 111927973 single base substitution T C missense_variant L374P 1121T>C STAD-US 13 111927973 111927973 single base substitution T C missense_variant L384P 1151T>C STAD-US 13 111927973 111927973 single base substitution T C missense_variant L427P 1280T>C STAD-US 13 111927973 111927973 single base substitution T C missense_variant L456P 1367T>C STAD-US 13 111927973 111927973 single base substitution T C missense_variant L477P 1430T>C STAD-US 13 111932912 111932912 single base substitution C T 3_prime_UTR_variant STAD-US 13 111932912 111932912 single base substitution C T downstream_gene_variant STAD-US 13 111932912 111932912 single base substitution C T missense_variant S303L 908C>T STAD-US 13 111932912 111932912 single base substitution C T missense_variant S381L 1142C>T STAD-US 13 111932912 111932912 single base substitution C T missense_variant S456L 1367C>T STAD-US 13 111932912 111932912 single base substitution C T missense_variant S466L 1397C>T STAD-US 13 111932912 111932912 single base substitution C T missense_variant S509L 1526C>T STAD-US 13 111932912 111932912 single base substitution C T missense_variant S538L 1613C>T STAD-US 13 111932912 111932912 single base substitution C T missense_variant S559L 1676C>T STAD-US 13 111932912 111932912 single base substitution C T upstream_gene_variant STAD-US 13 111933004 111933004 single base substitution C T 3_prime_UTR_variant STAD-US 13 111933004 111933004 single base substitution C T downstream_gene_variant STAD-US 13 111933004 111933004 single base substitution C T missense_variant H334Y 1000C>T STAD-US 13 111933004 111933004 single base substitution C T missense_variant H412Y 1234C>T STAD-US 13 111933004 111933004 single base substitution C T missense_variant H487Y 1459C>T STAD-US 13 111933004 111933004 single base substitution C T missense_variant H497Y 1489C>T STAD-US 13 111933004 111933004 single base substitution C T missense_variant H540Y 1618C>T STAD-US 13 111933004 111933004 single base substitution C T missense_variant H569Y 1705C>T STAD-US 13 111933004 111933004 single base substitution C T missense_variant H590Y 1768C>T STAD-US 13 111933004 111933004 single base substitution C T upstream_gene_variant STAD-US 13 111935539 111935539 single base substitution G A 3_prime_UTR_variant STAD-US 13 111935539 111935539 single base substitution G A exon_variant STAD-US 13 111935539 111935539 single base substitution G A synonymous_variant A358A 1074G>A STAD-US 13 111935539 111935539 single base substitution G A synonymous_variant A436A 1308G>A STAD-US 13 111935539 111935539 single base substitution G A synonymous_variant A511A 1533G>A STAD-US 13 111935539 111935539 single base substitution G A synonymous_variant A521A 1563G>A STAD-US 13 111935539 111935539 single base substitution G A synonymous_variant A564A 1692G>A STAD-US 13 111935539 111935539 single base substitution G A synonymous_variant A593A 1779G>A STAD-US 13 111935539 111935539 single base substitution G A synonymous_variant A614A 1842G>A STAD-US 13 111944543 111944543 single base substitution G A intron_variant STAD-US 13 111944543 111944543 single base substitution G A missense_variant R503H 1508G>A STAD-US 13 111944543 111944543 single base substitution G A missense_variant R581H 1742G>A STAD-US 13 111944543 111944543 single base substitution G A missense_variant R709H 2126G>A STAD-US 13 111944543 111944543 single base substitution G A missense_variant R738H 2213G>A STAD-US 13 111944543 111944543 single base substitution G A missense_variant R759H 2276G>A STAD-US 13 111953116 111953116 single base substitution C T missense_variant P562L 1685C>T STAD-US 13 111953116 111953116 single base substitution C T missense_variant P621L 1862C>T STAD-US 13 111953116 111953116 single base substitution C T missense_variant P637L 1910C>T STAD-US 13 111953116 111953116 single base substitution C T missense_variant P647L 1940C>T THCA-SA 13 111806245 111806245 single base substitution A G 5_prime_UTR_variant THCA-SA 13 111806245 111806245 single base substitution A G intron_variant THCA-SA 13 111806245 111806245 single base substitution A G splice_region_variant THCA-SA 13 111944866 111944866 single base substitution A G 3_prime_UTR_variant THCA-SA 13 111944866 111944866 single base substitution A G downstream_gene_variant THCA-SA 13 111944866 111944866 single base substitution A G intron_variant THCA-US 13 111870032 111870032 single base substitution A G 5_prime_UTR_variant THCA-US 13 111870032 111870032 single base substitution A G exon_variant THCA-US 13 111870032 111870032 single base substitution A G missense_variant T130A 388A>G THCA-US 13 111870032 111870032 single base substitution A G missense_variant T159A 475A>G THCA-US 13 111870032 111870032 single base substitution A G missense_variant T180A 538A>G THCA-US 13 111870032 111870032 single base substitution A G missense_variant T2A 4A>G THCA-US 13 111870032 111870032 single base substitution A G missense_variant T77A 229A>G THCA-US 13 111870032 111870032 single base substitution A G missense_variant T87A 259A>G UCEC-US 13 111767943 111767943 single base substitution A G 5_prime_UTR_variant UCEC-US 13 111767943 111767943 single base substitution A G exon_variant UCEC-US 13 111767943 111767943 single base substitution A G intron_variant UCEC-US 13 111767943 111767943 single base substitution A G missense_variant I24V 70A>G UCEC-US 13 111857651 111857651 single base substitution G A 5_prime_UTR_variant UCEC-US 13 111857651 111857651 single base substitution G A intron_variant UCEC-US 13 111857651 111857651 single base substitution G A missense_variant D111N 331G>A UCEC-US 13 111857651 111857651 single base substitution G A missense_variant D61N 181G>A UCEC-US 13 111857651 111857651 single base substitution G A missense_variant D8N 22G>A UCEC-US 13 111857651 111857651 single base substitution G A missense_variant D90N 268G>A UCEC-US 13 111870106 111870106 single base substitution C A 5_prime_UTR_variant UCEC-US 13 111870106 111870106 single base substitution C A exon_variant UCEC-US 13 111870106 111870106 single base substitution C A synonymous_variant S101S 303C>A UCEC-US 13 111870106 111870106 single base substitution C A synonymous_variant S111S 333C>A UCEC-US 13 111870106 111870106 single base substitution C A synonymous_variant S154S 462C>A UCEC-US 13 111870106 111870106 single base substitution C A synonymous_variant S183S 549C>A UCEC-US 13 111870106 111870106 single base substitution C A synonymous_variant S204S 612C>A UCEC-US 13 111870106 111870106 single base substitution C A synonymous_variant S26S 78C>A UCEC-US 13 111870209 111870209 single base substitution C T 5_prime_UTR_variant UCEC-US 13 111870209 111870209 single base substitution C T downstream_gene_variant UCEC-US 13 111870209 111870209 single base substitution C T exon_variant UCEC-US 13 111870209 111870209 single base substitution C T missense_variant R136C 406C>T UCEC-US 13 111870209 111870209 single base substitution C T missense_variant R146C 436C>T UCEC-US 13 111870209 111870209 single base substitution C T missense_variant R189C 565C>T UCEC-US 13 111870209 111870209 single base substitution C T missense_variant R218C 652C>T UCEC-US 13 111870209 111870209 single base substitution C T missense_variant R239C 715C>T UCEC-US 13 111870209 111870209 single base substitution C T missense_variant R61C 181C>T UCEC-US 13 111885599 111885599 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 13 111885599 111885599 single base substitution G T exon_variant UCEC-US 13 111885599 111885599 single base substitution G T stop_gained G158* 472G>T UCEC-US 13 111885599 111885599 single base substitution G T stop_gained G168* 502G>T UCEC-US 13 111885599 111885599 single base substitution G T stop_gained G211* 631G>T UCEC-US 13 111885599 111885599 single base substitution G T stop_gained G240* 718G>T UCEC-US 13 111885599 111885599 single base substitution G T stop_gained G261* 781G>T UCEC-US 13 111885599 111885599 single base substitution G T stop_gained G83* 247G>T UCEC-US 13 111896229 111896229 single base substitution A C exon_variant UCEC-US 13 111896229 111896229 single base substitution A C intron_variant UCEC-US 13 111896229 111896229 single base substitution A C missense_variant N100T 299A>C UCEC-US 13 111896229 111896229 single base substitution A C missense_variant N175T 524A>C UCEC-US 13 111896229 111896229 single base substitution A C missense_variant N185T 554A>C UCEC-US 13 111896229 111896229 single base substitution A C missense_variant N228T 683A>C UCEC-US 13 111896229 111896229 single base substitution A C missense_variant N22T 65A>C UCEC-US 13 111896229 111896229 single base substitution A C missense_variant N257T 770A>C UCEC-US 13 111896229 111896229 single base substitution A C missense_variant N278T 833A>C UCEC-US 13 111896601 111896601 single base substitution T G exon_variant UCEC-US 13 111896601 111896601 single base substitution T G intron_variant UCEC-US 13 111896601 111896601 single base substitution T G missense_variant F147V 439T>G UCEC-US 13 111896601 111896601 single base substitution T G missense_variant F222V 664T>G UCEC-US 13 111896601 111896601 single base substitution T G missense_variant F232V 694T>G UCEC-US 13 111896601 111896601 single base substitution T G missense_variant F275V 823T>G UCEC-US 13 111896601 111896601 single base substitution T G missense_variant F304V 910T>G UCEC-US 13 111896601 111896601 single base substitution T G missense_variant F325V 973T>G UCEC-US 13 111896601 111896601 single base substitution T G missense_variant F69V 205T>G UCEC-US 13 111896631 111896631 single base substitution G T exon_variant UCEC-US 13 111896631 111896631 single base substitution G T intron_variant UCEC-US 13 111896631 111896631 single base substitution G T stop_gained E157* 469G>T UCEC-US 13 111896631 111896631 single base substitution G T stop_gained E232* 694G>T UCEC-US 13 111896631 111896631 single base substitution G T stop_gained E242* 724G>T UCEC-US 13 111896631 111896631 single base substitution G T stop_gained E285* 853G>T UCEC-US 13 111896631 111896631 single base substitution G T stop_gained E314* 940G>T UCEC-US 13 111896631 111896631 single base substitution G T stop_gained E335* 1003G>T UCEC-US 13 111896631 111896631 single base substitution G T stop_gained E79* 235G>T UCEC-US 13 111929939 111929939 single base substitution G T 3_prime_UTR_variant UCEC-US 13 111929939 111929939 single base substitution G T downstream_gene_variant UCEC-US 13 111929939 111929939 single base substitution G T missense_variant K152N 456G>T UCEC-US 13 111929939 111929939 single base substitution G T missense_variant K240N 720G>T UCEC-US 13 111929939 111929939 single base substitution G T missense_variant K318N 954G>T UCEC-US 13 111929939 111929939 single base substitution G T missense_variant K393N 1179G>T UCEC-US 13 111929939 111929939 single base substitution G T missense_variant K403N 1209G>T UCEC-US 13 111929939 111929939 single base substitution G T missense_variant K446N 1338G>T UCEC-US 13 111929939 111929939 single base substitution G T missense_variant K475N 1425G>T UCEC-US 13 111929939 111929939 single base substitution G T missense_variant K496N 1488G>T UCEC-US 13 111932909 111932909 single base substitution T C 3_prime_UTR_variant UCEC-US 13 111932909 111932909 single base substitution T C downstream_gene_variant UCEC-US 13 111932909 111932909 single base substitution T C missense_variant V302A 905T>C UCEC-US 13 111932909 111932909 single base substitution T C missense_variant V380A 1139T>C UCEC-US 13 111932909 111932909 single base substitution T C missense_variant V455A 1364T>C UCEC-US 13 111932909 111932909 single base substitution T C missense_variant V465A 1394T>C UCEC-US 13 111932909 111932909 single base substitution T C missense_variant V508A 1523T>C UCEC-US 13 111932909 111932909 single base substitution T C missense_variant V537A 1610T>C UCEC-US 13 111932909 111932909 single base substitution T C missense_variant V558A 1673T>C UCEC-US 13 111932909 111932909 single base substitution T C upstream_gene_variant UCEC-US 13 111932971 111932971 single base substitution G A 3_prime_UTR_variant UCEC-US 13 111932971 111932971 single base substitution G A downstream_gene_variant UCEC-US 13 111932971 111932971 single base substitution G A missense_variant V323I 967G>A UCEC-US 13 111932971 111932971 single base substitution G A missense_variant V401I 1201G>A UCEC-US 13 111932971 111932971 single base substitution G A missense_variant V476I 1426G>A UCEC-US 13 111932971 111932971 single base substitution G A missense_variant V486I 1456G>A UCEC-US 13 111932971 111932971 single base substitution G A missense_variant V529I 1585G>A UCEC-US 13 111932971 111932971 single base substitution G A missense_variant V558I 1672G>A UCEC-US 13 111932971 111932971 single base substitution G A missense_variant V579I 1735G>A UCEC-US 13 111932971 111932971 single base substitution G A upstream_gene_variant UCEC-US 13 111935593 111935593 single base substitution G A 3_prime_UTR_variant UCEC-US 13 111935593 111935593 single base substitution G A downstream_gene_variant UCEC-US 13 111935593 111935593 single base substitution G A exon_variant UCEC-US 13 111935593 111935593 single base substitution G A synonymous_variant P376P 1128G>A UCEC-US 13 111935593 111935593 single base substitution G A synonymous_variant P454P 1362G>A UCEC-US 13 111935593 111935593 single base substitution G A synonymous_variant P529P 1587G>A UCEC-US 13 111935593 111935593 single base substitution G A synonymous_variant P539P 1617G>A UCEC-US 13 111935593 111935593 single base substitution G A synonymous_variant P582P 1746G>A UCEC-US 13 111935593 111935593 single base substitution G A synonymous_variant P611P 1833G>A UCEC-US 13 111935593 111935593 single base substitution G A synonymous_variant P632P 1896G>A UCEC-US 13 111935652 111935652 single base substitution T C downstream_gene_variant UCEC-US 13 111935652 111935652 single base substitution T C exon_variant UCEC-US 13 111935652 111935652 single base substitution T C missense_variant L396P 1187T>C UCEC-US 13 111935652 111935652 single base substitution T C missense_variant L474P 1421T>C UCEC-US 13 111935652 111935652 single base substitution T C missense_variant L549P 1646T>C UCEC-US 13 111935652 111935652 single base substitution T C missense_variant L559P 1676T>C UCEC-US 13 111935652 111935652 single base substitution T C missense_variant L602P 1805T>C UCEC-US 13 111935652 111935652 single base substitution T C missense_variant L631P 1892T>C UCEC-US 13 111935652 111935652 single base substitution T C missense_variant L652P 1955T>C UCEC-US 13 111938512 111938512 single base substitution A G downstream_gene_variant UCEC-US 13 111938512 111938512 single base substitution A G exon_variant UCEC-US 13 111938512 111938512 single base substitution A G missense_variant K422E 1264A>G UCEC-US 13 111938512 111938512 single base substitution A G missense_variant K500E 1498A>G UCEC-US 13 111938512 111938512 single base substitution A G missense_variant K575E 1723A>G UCEC-US 13 111938512 111938512 single base substitution A G missense_variant K585E 1753A>G UCEC-US 13 111938512 111938512 single base substitution A G missense_variant K628E 1882A>G UCEC-US 13 111938512 111938512 single base substitution A G missense_variant K657E 1969A>G UCEC-US 13 111938512 111938512 single base substitution A G missense_variant K678E 2032A>G UCEC-US 13 111940763 111940763 single base substitution G A downstream_gene_variant UCEC-US 13 111940763 111940763 single base substitution G A missense_variant A468T 1402G>A UCEC-US 13 111940763 111940763 single base substitution G A missense_variant A546T 1636G>A UCEC-US 13 111940763 111940763 single base substitution G A missense_variant A621T 1861G>A UCEC-US 13 111940763 111940763 single base substitution G A missense_variant A631T 1891G>A UCEC-US 13 111940763 111940763 single base substitution G A missense_variant A674T 2020G>A UCEC-US 13 111940763 111940763 single base substitution G A missense_variant A703T 2107G>A UCEC-US 13 111940763 111940763 single base substitution G A missense_variant A724T 2170G>A UCEC-US 13 111940783 111940783 single base substitution C G downstream_gene_variant UCEC-US 13 111940783 111940783 single base substitution C G synonymous_variant L474L 1422C>G UCEC-US 13 111940783 111940783 single base substitution C G synonymous_variant L552L 1656C>G UCEC-US 13 111940783 111940783 single base substitution C G synonymous_variant L627L 1881C>G UCEC-US 13 111940783 111940783 single base substitution C G synonymous_variant L637L 1911C>G UCEC-US 13 111940783 111940783 single base substitution C G synonymous_variant L680L 2040C>G UCEC-US 13 111940783 111940783 single base substitution C G synonymous_variant L709L 2127C>G UCEC-US 13 111940783 111940783 single base substitution C G synonymous_variant L730L 2190C>G UCEC-US 13 111953840 111953840 single base substitution C T synonymous_variant T593T 1779C>T UCEC-US 13 111953840 111953840 single base substitution C T synonymous_variant T652T 1956C>T UCEC-US 13 111953840 111953840 single base substitution C T synonymous_variant T668T 2004C>T UCEC-US 13 111953840 111953840 single base substitution C T synonymous_variant T678T 2034C>T UCEC-US 13 111955337 111955337 single base substitution G T splice_acceptor_variant UCEC-US 13 111955399 111955399 single base substitution A C missense_variant K627T 1880A>C UCEC-US 13 111955399 111955399 single base substitution A C missense_variant K686T 2057A>C UCEC-US 13 111955399 111955399 single base substitution A C missense_variant K702T 2105A>C UCEC-US 13 111955399 111955399 single base substitution A C missense_variant K712T 2135A>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand KYSE-140 COSM2263411 c.406C>T p.L136F Substitution - Missense 13:111209940-111209940 + TCGA-FS-A1ZZ-06 COSM3467265 c.147C>T p.L49L Substitution - coding silent 13:111115673-111115673 + OSCC-GB_00410111 COSM3711003 c.944G>T p.C315F Substitution - Missense 13:111244288-111244288 + HCT15 COSM2263505 c.2213G>A p.R738H Substitution - Missense 13:111292196-111292196 + TCGA-FS-A1ZZ-06 COSM3467266 c.147C>T p.L49L Substitution - coding silent 13:111115673-111115673 + Pat_76_A COSM5158914 c.2230G>A p.V744I Substitution - Missense 13:111292150-111292150 + TCGA-DM-A0XD-01 COSM1365510 c.1676C>T p.T559M Substitution - Missense 13:111280628-111280628 + TCGA-B5-A0JY-01 COSM945419 c.70A>G p.I24V Substitution - Missense 13:111115596-111115596 + 41T COSM3711003 c.944G>T p.C315F Substitution - Missense 13:111244288-111244288 + TCGA-AM-5820-01 COSM3753582 c.543T>C p.D181D Substitution - coding silent 13:111217690-111217690 + 8044847 COSM1158417 c.82G>A p.E28K Substitution - Missense 13:111115608-111115608 + HT29 COSM1677806 c.65A>C p.K22T Substitution - Missense 13:111115591-111115591 + TCGA-BH-A1EO-01 COSM432126 c.1292G>A p.R431Q Substitution - Missense 13:111275551-111275551 + CSCC-35-T COSM4463916 c.1310C>T p.S437F Substitution - Missense 13:111274765-111274765 + sysucc-1370T COSM5470117 c.1841C>T p.A614V Substitution - Missense 13:111283191-111283191 + TCGA-DM-A0XD-01 COSM5167056 c.1739C>T p.T580M Substitution - Missense 13:111280628-111280628 + TCGA-AF-6672-01 COSM1562372 c.898G>A p.E300K Substitution - Missense 13:111244242-111244242 + Pat_58_A COSM5842186 c.77A>C p.D26A Substitution - Missense 13:111115603-111115603 + TCGA-AX-A05Z-01 COSM1586835 c.1003G>T p.E335* Substitution - Nonsense 13:111244284-111244284 + STC246 COSM5052060 c.43G>T p.G15W Substitution - Missense 13:111115569-111115569 + PDA_095 COSM296810 c.61delA p.T23fs*13 Deletion - Frameshift 13:111115587-111115587 + D3 COSM5006753 c.443C>T p.S148F Substitution - Missense 13:111209914-111209914 + TCGA-B5-A0JY-01 COSM1586840 c.70A>G p.I24V Substitution - Missense 13:111115596-111115596 + BD114T COSM5504016 c.456G>A p.Q152Q Substitution - coding silent 13:111209990-111209990 + CSCC-46-T COSM4546802 c.344G>T p.G115V Substitution - Missense 13:111209878-111209878 + HCC166T COSM3704531 c.2131G>T p.A711S Substitution - Missense 13:111288377-111288377 + C0010T COSM4422386 c.1024A>T p.T342S Substitution - Missense 13:111267621-111267621 + PA090 COSM1162386 c.2023G>A p.E675K Substitution - Missense 13:111286219-111286219 + TCGA-BR-4201-01 COSM2263505 c.2213G>A p.R738H Substitution - Missense 13:111292196-111292196 + ccRCC-102 COSM1660238 c.926C>T p.S309L Substitution - Missense 13:111244207-111244207 + TCGA-DD-A3A7-01 COSM4916212 c.1335C>A p.I445I Substitution - coding silent 13:111275594-111275594 + TCGA-D8-A1JJ-01 COSM1477066 c.204C>T p.S68S Substitution - coding silent 13:111153943-111153943 + T3091 COSM296810 c.61delA p.T23fs*13 Deletion - Frameshift 13:111115587-111115587 + CSCC-56-T COSM4480202 c.2399C>T p.S800F Substitution - Missense 13:111292319-111292319 + LUAD-CHTN-3090415 COSM357221 c.147C>A p.L49L Substitution - coding silent 13:111115673-111115673 + TCGA-DI-A0WH-01 COSM945423 c.652C>T p.R218C Substitution - Missense 13:111217862-111217862 + T3503 COSM4663198 c.1388C>T p.T463M Substitution - Missense 13:111275584-111275584 + TCGA-D1-A15X-01 COSM1586832 c.1896G>A p.P632P Substitution - coding silent 13:111283246-111283246 + KM12 COSM4612739 c.60_61insA p.T23fs*86 Insertion - Frameshift 13:111115586-111115587 + 3N33-VS-3T33 COSM4980869 c.1581A>T p.I527I Substitution - coding silent 13:111280346-111280346 + 10-355 COSM305461 c.749A>C p.Y250S Substitution - Missense 13:111233283-111233283 + SNUH_G13_S1 COSM2263407 c.423C>T p.S141S Substitution - coding silent 13:111209894-111209894 + Au1 COSM5596287 c.2018C>T p.S673L Substitution - Missense 13:111286214-111286214 + HCC166 COSM3704531 c.2131G>T p.A711S Substitution - Missense 13:111288377-111288377 + XHDG42 COSM4770146 c.1741T>C p.S581P Substitution - Missense 13:111280630-111280630 + TCGA-B7-5818-01 COSM4046010 c.1768C>T p.H590Y Substitution - Missense 13:111280657-111280657 + T2269 COSM945433 c.1425G>T p.K475N Substitution - Missense 13:111277592-111277592 + TCGA-CC-A7IH-01 COSM4923258 c.2024A>G p.K675R Substitution - Missense 13:111286157-111286157 + YUOTHO COSM5376391 c.1810C>T p.P604S Substitution - Missense 13:111283160-111283160 + TCGA-EE-A2GI-06 COSM3467270 c.808C>T p.Q270* Substitution - Nonsense 13:111243920-111243920 + TCGA-AA-3947-01 COSM296810 c.61delA p.T23fs*13 Deletion - Frameshift 13:111115587-111115587 + TCGA-D1-A176-01 COSM945421 c.549C>A p.S183S Substitution - coding silent 13:111217759-111217759 + TCGA-CM-6168-01 COSM1365506 c.1533A>G p.T511T Substitution - coding silent 13:111280298-111280298 + Gp2D COSM2263446 c.955C>T p.P319S Substitution - Missense 13:111267552-111267552 + 3206A7_019_T COSM5041541 c.1385T>G p.M462R Substitution - Missense 13:111275644-111275644 + 53M COSM5594215 c.627C>T p.T209T Substitution - coding silent 13:111217837-111217837 + TCGA-AY-4070-01 COSM301235 c.983G>C p.C328S Substitution - Missense 13:111267580-111267580 + 489 COSM3720859 c.1029T>C p.Y343Y Substitution - coding silent 13:111267626-111267626 + TCGA-BG-A18C-01 COSM945447 c.2127C>G p.L709L Substitution - coding silent 13:111288436-111288436 + ESO-161 COSM1245432 c.1903C>A p.R635R Substitution - coding silent 13:111283316-111283316 + TCGA-BR-4368-01 COSM4046008 c.1613C>T p.S538L Substitution - Missense 13:111280565-111280565 + 2290929 COSM4440356 c.449G>A p.R150H Substitution - Missense 13:111209920-111209920 + COLO-829 COSM36766 c.360C>T p.S120S Substitution - coding silent 13:111209894-111209894 + T3503 COSM4440356 c.449G>A p.R150H Substitution - Missense 13:111209920-111209920 + TCGA-AD-6895-01 COSM5130257 c.1003G>A p.E335K Substitution - Missense 13:111244284-111244284 + TCGA-DK-A3IS-01 COSM1300023 c.1420G>A p.E474K Substitution - Missense 13:111277587-111277587 + LUAD-B00859 COSM332237 c.606G>A p.E202E Substitution - coding silent 13:111217816-111217816 + SNUH_G76_S1 COSM4419090 c.480T>G p.D160E Substitution - Missense 13:111217690-111217690 + LIM2405 COSM4641797 c.1997G>A p.R666H Substitution - Missense 13:111286193-111286193 + TCGA-D9-A6EC-06 COSM4403779 c.2325C>G p.C775W Substitution - Missense 13:111292308-111292308 + T2269 COSM1586834 c.1488G>T p.K496N Substitution - Missense 13:111277592-111277592 + Gp2D COSM2263445 c.1018C>T p.P340S Substitution - Missense 13:111267552-111267552 + TCGA-AP-A0LM-01 COSM1586838 c.781G>T p.G261* Substitution - Nonsense 13:111233252-111233252 + TCGA-56-5898-01 COSM695978 c.2197G>T p.D733Y Substitution - Missense 13:111292180-111292180 + TCGA-13-0723-01 COSM73724 c.1976T>G p.M659R Substitution - Missense 13:111286172-111286172 + HCC2998 COSM2263408 c.436C>G p.P146A Substitution - Missense 13:111209907-111209907 + I2L-P19Ta-Tumor-Biopsy COSM5362109 c.1840G>A p.A614T Substitution - Missense 13:111283190-111283190 + TCGA-C5-A7UE-01 COSM4856489 c.602G>A p.W201* Substitution - Nonsense 13:111217812-111217812 + BD114T COSM5504015 c.519G>A p.Q173Q Substitution - coding silent 13:111209990-111209990 + TCGA-AO-A128-01 COSM3813423 c.1258T>C p.F420L Substitution - Missense 13:111274776-111274776 + HCC166T COSM3704532 c.2068G>T p.A690S Substitution - Missense 13:111288377-111288377 + TCGA-AP-A0LM-01 COSM945445 c.2107G>A p.A703T Substitution - Missense 13:111288416-111288416 + ccRCC-102 COSM1660239 c.863C>T p.S288L Substitution - Missense 13:111244207-111244207 + TCGA-BR-A44U-01 COSM2263401 c.68C>A p.T23N Substitution - Missense 13:111115594-111115594 + T3255 COSM4663195 c.682G>A p.G228S Substitution - Missense 13:111217829-111217829 + 8016583 COSM2263504 c.2276G>A p.R759H Substitution - Missense 13:111292196-111292196 + TCGA-BR-6452-01 COSM4045999 c.439T>C p.S147P Substitution - Missense 13:111209910-111209910 + PDA_095 COSM2263400 c.61delA p.T23fs*13 Deletion - Frameshift 13:111115587-111115587 + XHDG42 COSM4770147 c.1678T>C p.S560P Substitution - Missense 13:111280630-111280630 + pfg019T COSM1639292 c.1964T>C p.L655P Substitution - Missense 13:111283314-111283314 + COLO-829 COSM36766 c.360C>T p.S120S Substitution - coding silent 13:111209894-111209894 + TCGA-BS-A0UV-01 COSM1586836 c.973T>G p.F325V Substitution - Missense 13:111244254-111244254 + YUGURT COSM2263472 c.1399C>T p.R467W Substitution - Missense 13:111275595-111275595 + TCGA-GM-A2DF-01 COSM3813420 c.1234G>A p.D412N Substitution - Missense 13:111274752-111274752 + TCGA-AP-A0LM-01 COSM945425 c.718G>T p.G240* Substitution - Nonsense 13:111233252-111233252 + 3206A7_019_T COSM5041540 c.1448T>G p.M483R Substitution - Missense 13:111275644-111275644 + T3262 COSM296810 c.61delA p.T23fs*13 Deletion - Frameshift 13:111115587-111115587 + TCGA-AP-A056-01 COSM1586834 c.1488G>T p.K496N Substitution - Missense 13:111277592-111277592 + HCT15 COSM2263504 c.2276G>A p.R759H Substitution - Missense 13:111292196-111292196 + Pat_58_B COSM5842186 c.77A>C p.D26A Substitution - Missense 13:111115603-111115603 + TCGA-EB-A3Y6-01 COSM3467275 c.1844C>T p.P615L Substitution - Missense 13:111283194-111283194 + BD49T COSM5498121 c.2045-4A>T p.? Unknown 13:111288350-111288350 + OSCC-GB_00410111 COSM3711002 c.1007G>T p.C336F Substitution - Missense 13:111244288-111244288 + HCC054T COSM5809617 c.197G>T p.C66F Substitution - Missense 13:111153936-111153936 + TCGA-BR-6452-01 COSM2263476 c.1367T>C p.L456P Substitution - Missense 13:111275626-111275626 + sysucc-1370T COSM5470118 c.1778C>T p.A593V Substitution - Missense 13:111283191-111283191 + YUGURT COSM2263473 c.1336C>T p.R446W Substitution - Missense 13:111275595-111275595 + STC246 COSM5052059 c.43G>T p.G15W Substitution - Missense 13:111115569-111115569 + TCGA-GV-A3QF-01 COSM3793127 c.1499A>C p.Y500S Substitution - Missense 13:111277603-111277603 + 2521244 COSM5887413 c.571C>T p.H191Y Substitution - Missense 13:111217781-111217781 + pfg127T COSM4747763 c.1743_1744delTG p.V582fs*92 Deletion - Frameshift 13:111280632-111280633 + YULOCUS COSM5376387 c.987C>G p.L329L Substitution - coding silent 13:111244268-111244268 + TCGA-A2-A0T5-01 COSM3813416 c.1103A>C p.H368P Substitution - Missense 13:111267637-111267637 + Pat_76_A COSM5158915 c.2167G>A p.V723I Substitution - Missense 13:111292150-111292150 + TCGA-AX-A05Z-01 COSM945431 c.940G>T p.E314* Substitution - Nonsense 13:111244284-111244284 + 587228 COSM1183539 c.1601G>A p.R534Q Substitution - Missense 13:111280553-111280553 + TCGA-06-5858-01 COSM3399238 c.653G>A p.R218H Substitution - Missense 13:111217863-111217863 + XHDG20 COSM4768858 c.2390C>G p.S797* Substitution - Nonsense 13:111292310-111292310 + BD49T COSM5498120 c.2108-4A>T p.? Unknown 13:111288350-111288350 + T3446 COSM296810 c.61delA p.T23fs*13 Deletion - Frameshift 13:111115587-111115587 + CRC-19T COSM5481106 c.1354C>T p.R452W Substitution - Missense 13:111275550-111275550 + Pat_58_B COSM5842187 c.77A>C p.D26A Substitution - Missense 13:111115603-111115603 + Au4 COSM5602842 c.1187T>C p.I396T Substitution - Missense 13:111273864-111273864 + 2290929 COSM4440357 c.386G>A p.R129H Substitution - Missense 13:111209920-111209920 + 8016583 COSM2263505 c.2213G>A p.R738H Substitution - Missense 13:111292196-111292196 + TCGA-CJ-4904-01 COSM469175 c.345G>A p.G115G Substitution - coding silent 13:111209879-111209879 + TCGA-BW-A5NQ-01 COSM4911901 c.1747G>A p.G583R Substitution - Missense 13:111280636-111280636 + C086 COSM5526938 c.404C>T p.S135F Substitution - Missense 13:111209938-111209938 + TCGA-AP-A059-01 COSM1586833 c.1735G>A p.V579I Substitution - Missense 13:111280624-111280624 + BD236T COSM5519233 c.2236G>A p.A746T Substitution - Missense 13:111292156-111292156 + TCGA-BQ-5885-01 COSM3987299 c.672G>A p.E224E Substitution - coding silent 13:111233206-111233206 + TCGA-A2-A0T5-01 COSM3813417 c.1040A>C p.H347P Substitution - Missense 13:111267637-111267637 + TCGA-BS-A0UJ-01 COSM1586831 c.1955T>C p.L652P Substitution - Missense 13:111283305-111283305 + BD236T COSM5519234 c.2173G>A p.A725T Substitution - Missense 13:111292156-111292156 + TCGA-AP-A059-01 COSM945437 c.1672G>A p.V558I Substitution - Missense 13:111280624-111280624 + TCGA-EI-6917-01 COSM3417380 c.2303C>T p.S768F Substitution - Missense 13:111292286-111292286 + XHDG20 COSM4768859 c.2327C>G p.S776* Substitution - Nonsense 13:111292310-111292310 + TCGA-37-5819-01 COSM695979 c.1597G>T p.E533* Substitution - Nonsense 13:111280549-111280549 + S00936 COSM309261 c.1350C>T p.G450G Substitution - coding silent 13:111275609-111275609 + SNUH_G76_S1 COSM4419089 c.543T>G p.D181E Substitution - Missense 13:111217690-111217690 + CSCC-56-T COSM4480203 c.2336C>T p.S779F Substitution - Missense 13:111292319-111292319 + TCGA-D1-A103-01 COSM945443 c.1969A>G p.K657E Substitution - Missense 13:111286165-111286165 + TCGA-BR-4201-01 COSM2263504 c.2276G>A p.R759H Substitution - Missense 13:111292196-111292196 + TCGA-AY-6197-01 COSM1365496 c.566T>C p.V189A Substitution - Missense 13:111217776-111217776 + TCGA-A5-A0GP-01 COSM1586839 c.331G>A p.D111N Substitution - Missense 13:111205304-111205304 + pfg127T COSM4747764 c.1680_1681delTG p.V561fs*92 Deletion - Frameshift 13:111280632-111280633 + TCGA-AG-3898-01 COSM288934 c.1165C>T p.L389L Substitution - coding silent 13:111273905-111273905 + 2521244 COSM5887412 c.634C>T p.H212Y Substitution - Missense 13:111217781-111217781 + TCGA-AY-6197-01 COSM5136491 c.629T>C p.V210A Substitution - Missense 13:111217776-111217776 + TCGA-B5-A11E-01 COSM1586837 c.833A>C p.N278T Substitution - Missense 13:111243882-111243882 + pfg019T COSM1639293 c.1901T>C p.L634P Substitution - Missense 13:111283314-111283314 + TCGA-B0-5812-01 COSM469176 c.1609G>T p.V537L Substitution - Missense 13:111280561-111280561 + HCT116 COSM2263443 c.954G>A p.L318L Substitution - coding silent 13:111267551-111267551 + CA2 COSM1166133 c.2169C>T p.V723V Substitution - coding silent 13:111292152-111292152 + T3503 COSM4440357 c.386G>A p.R129H Substitution - Missense 13:111209920-111209920 + TCGA-G4-6588-01 COSM5827350 c.1606C>T p.L536F Substitution - Missense 13:111280308-111280308 + PD2125a COSM51846 c.2305A>G p.T769A Substitution - Missense 13:111292288-111292288 + TCGA-AD-6895-01 COSM1365502 c.940G>A p.E314K Substitution - Missense 13:111244284-111244284 + Pat_58_A COSM5842187 c.77A>C p.D26A Substitution - Missense 13:111115603-111115603 + TCGA-B7-5818-01 COSM4046011 c.1705C>T p.H569Y Substitution - Missense 13:111280657-111280657 + TCGA-G2-A2EF-01 COSM1300025 c.1648G>C p.E550Q Substitution - Missense 13:111280600-111280600 + TCGA-A5-A0GP-01 COSM945420 c.268G>A p.D90N Substitution - Missense 13:111205304-111205304 + TCGA-D9-A6EC-06 COSM4403778 c.2388C>G p.C796W Substitution - Missense 13:111292308-111292308 + TCGA-AF-6672-01 COSM5065993 c.961G>A p.E321K Substitution - Missense 13:111244242-111244242 + WA48 COSM238841 c.393G>T p.K131N Substitution - Missense 13:111209927-111209927 + TCGA-AP-A0LM-01 COSM1586829 c.2170G>A p.A724T Substitution - Missense 13:111288416-111288416 + TCGA-BR-8680-01 COSM4046013 c.1842G>A p.A614A Substitution - coding silent 13:111283192-111283192 + T26 COSM5618265 c.1761A>G p.I587M Substitution - Missense 13:111280650-111280650 + PT55 COSM5942522 c.374C>T p.P125L Substitution - Missense 13:111209908-111209908 + YULOCUS COSM5376388 c.924C>G p.L308L Substitution - coding silent 13:111244268-111244268 + NCI-H2126 COSM21845 c.624G>T p.R208R Substitution - coding silent 13:111217834-111217834 + TCGA-EK-A3GK-01 COSM4852884 c.1991C>T p.S664L Substitution - Missense 13:111283341-111283341 + ESCC_BICR_062T COSM201112 c.1903C>T p.R635W Substitution - Missense 13:111283316-111283316 + SNUH_G13_S1 COSM36766 c.360C>T p.S120S Substitution - coding silent 13:111209894-111209894 + TCGA-AO-A128-01 COSM3813422 c.1321T>C p.F441L Substitution - Missense 13:111274776-111274776 + HT-29 COSM1677806 c.65A>C p.K22T Substitution - Missense 13:111115591-111115591 + TCGA-24-2030-01 COSM69713 c.1777G>A p.A593T Substitution - Missense 13:111283190-111283190 + T3446 COSM2263400 c.61delA p.T23fs*13 Deletion - Frameshift 13:111115587-111115587 + PT55 COSM5942521 c.437C>T p.P146L Substitution - Missense 13:111209908-111209908 + PDA_033 COSM4999756 c.2046C>A p.S682R Substitution - Missense 13:111288355-111288355 + GC_307T-GC_307N COSM4771712 c.876T>A p.T292T Substitution - coding silent 13:111243925-111243925 + 63 COSM5016434 c.544delA p.N182fs*7 Deletion - Frameshift 13:111217691-111217691 + TCGA-06-5858-01 COSM3399237 c.716G>A p.R239H Substitution - Missense 13:111217863-111217863 + CSCC-10-T COSM4478769 c.2201C>T p.S734F Substitution - Missense 13:111292184-111292184 + LIM2405 COSM4641796 c.2060G>A p.R687H Substitution - Missense 13:111286193-111286193 + TCGA-BR-6452-01 COSM4046000 c.376T>C p.S126P Substitution - Missense 13:111209910-111209910 + T3255 COSM4663196 c.619G>A p.G207S Substitution - Missense 13:111217829-111217829 + PD11750a COSM84237 c.1325C>T p.T442M Substitution - Missense 13:111275584-111275584 + TCGA-BR-4362-01 COSM4046001 c.581A>G p.N194S Substitution - Missense 13:111217728-111217728 + T2225 COSM4663200 c.2275C>T p.R759C Substitution - Missense 13:111292195-111292195 + TCGA-CC-A7IH-01 COSM4923259 c.1961A>G p.K654R Substitution - Missense 13:111286157-111286157 + TCGA-AA-3510-01 COSM1365504 c.1163G>A p.R388H Substitution - Missense 13:111273903-111273903 + ESCC_BICR_062T COSM5124442 c.1966C>T p.R656W Substitution - Missense 13:111283316-111283316 + TCGA-D1-A17D-01 COSM945435 c.1610T>C p.V537A Substitution - Missense 13:111280562-111280562 + TCGA-BR-6452-01 COSM2263475 c.1430T>C p.L477P Substitution - Missense 13:111275626-111275626 + TCGA-AP-A056-01 COSM945433 c.1425G>T p.K475N Substitution - Missense 13:111277592-111277592 + CSCC-35-T COSM4463917 c.1247C>T p.S416F Substitution - Missense 13:111274765-111274765 + TCGA-BH-A1EO-01 COSM5219435 c.1355G>A p.R452Q Substitution - Missense 13:111275551-111275551 + CSCC-46-T COSM4546801 c.407G>T p.G136V Substitution - Missense 13:111209878-111209878 + T3091 COSM2263400 c.61delA p.T23fs*13 Deletion - Frameshift 13:111115587-111115587 + TCGA-EE-A2GN-06 COSM3467272 c.1179C>T p.S393S Substitution - coding silent 13:111273856-111273856 + TCGA-GV-A3QF-01 COSM3793128 c.1436A>C p.Y479S Substitution - Missense 13:111277603-111277603 + D3 COSM5006754 c.380C>T p.S127F Substitution - Missense 13:111209914-111209914 + TCGA-EM-A1CS-01 COSM3369017 c.475A>G p.T159A Substitution - Missense 13:111217685-111217685 + TCGA-BR-4257-01 COSM4046004 c.1242T>C p.P414P Substitution - coding silent 13:111273919-111273919 + 63 COSM5016435 c.481delA p.N161fs*7 Deletion - Frameshift 13:111217691-111217691 + XHDG04 COSM4768285 c.1125C>A p.L375L Substitution - coding silent 13:111267659-111267659 + TCGA-FV-A4ZP-01 COSM4929510 c.295A>G p.T99A Substitution - Missense 13:111159069-111159069 + 8044847 COSM3384733 c.82G>A p.E28K Substitution - Missense 13:111115608-111115608 + TCGA-D8-A1JJ-01 COSM5224028 c.204C>T p.S68S Substitution - coding silent 13:111153943-111153943 + Gp5D COSM2263446 c.955C>T p.P319S Substitution - Missense 13:111267552-111267552 + HT-29 COSM1677805 c.65A>C p.K22T Substitution - Missense 13:111115591-111115591 + LUAD-D01603 COSM337369 c.1098G>T p.E366D Substitution - Missense 13:111273838-111273838 + TCGA-EE-A2GN-06 COSM3467273 c.1116C>T p.S372S Substitution - coding silent 13:111273856-111273856 + TCGA-18-5592-01 COSM695981 c.1124T>C p.I375T Substitution - Missense 13:111273864-111273864 + CSCC-10-T COSM4478768 c.2264C>T p.S755F Substitution - Missense 13:111292184-111292184 + GC_307T-GC_307N COSM4771713 c.813T>A p.T271T Substitution - coding silent 13:111243925-111243925 + TCGA-AA-3510-01 COSM5099110 c.1226G>A p.R409H Substitution - Missense 13:111273903-111273903 + TCGA-BW-A5NQ-01 COSM4911902 c.1684G>A p.G562R Substitution - Missense 13:111280636-111280636 + HT29 COSM1677805 c.65A>C p.K22T Substitution - Missense 13:111115591-111115591 + TCGA-AM-5820-01 COSM3753583 c.480T>C p.D160D Substitution - coding silent 13:111217690-111217690 + TCGA-D1-A103-01 COSM1586830 c.2032A>G p.K678E Substitution - Missense 13:111286165-111286165 + C0010T COSM4422385 c.1087A>T p.T363S Substitution - Missense 13:111267621-111267621 + HCC2998 COSM2263409 c.373C>G p.P125A Substitution - Missense 13:111209907-111209907 + TCGA-BR-4257-01 COSM4046005 c.1179T>C p.P393P Substitution - coding silent 13:111273919-111273919 + TCGA-JL-A3YW-01 COSM3813426 c.1997G>T p.R666L Substitution - Missense 13:111286193-111286193 + XHDG04 COSM4768286 c.1062C>A p.L354L Substitution - coding silent 13:111267659-111267659 + SJHGG073_A COSM4971366 c.1307A>T p.K436I Substitution - Missense 13:111274762-111274762 + TCGA-DM-A1D7-01 COSM1365515 c.2241A>G p.S747S Substitution - coding silent 13:111292224-111292224 + Gp5D COSM2263445 c.1018C>T p.P340S Substitution - Missense 13:111267552-111267552 + PD14453a COSM5777149 c.76G>A p.D26N Substitution - Missense 13:111115602-111115602 + TCGA-JL-A3YW-01 COSM3813425 c.2060G>T p.R687L Substitution - Missense 13:111286193-111286193 + TCGA-DM-A1D7-01 COSM5167431 c.2304A>G p.S768S Substitution - coding silent 13:111292224-111292224 + TCGA-B5-A11E-01 COSM945427 c.770A>C p.N257T Substitution - Missense 13:111243882-111243882 + TCGA-FS-A1ZK-06 COSM3467268 c.285G>A p.Q95Q Substitution - coding silent 13:111205321-111205321 + 489 COSM3720858 c.1092T>C p.Y364Y Substitution - coding silent 13:111267626-111267626 + I2L-P19Ta-Tumor-Organoid COSM5362109 c.1840G>A p.A614T Substitution - Missense 13:111283190-111283190 + 53M COSM5594214 c.690C>T p.T230T Substitution - coding silent 13:111217837-111217837 + PTC-1C COSM4147590 c.1296G>T p.K432N Substitution - Missense 13:111275555-111275555 + YUOTHO COSM5376392 c.1747C>T p.P583S Substitution - Missense 13:111283160-111283160 + T26 COSM5618266 c.1698A>G p.I566M Substitution - Missense 13:111280650-111280650 + TCGA-BQ-5885-01 COSM3987298 c.735G>A p.E245E Substitution - coding silent 13:111233206-111233206 + PACA98 COSM1158417 c.82G>A p.E28K Substitution - Missense 13:111115608-111115608 + TCGA-DR-A0ZM-01 COSM459323 c.1260C>T p.F420F Substitution - coding silent 13:111274778-111274778 + SJHGG073_A COSM4971367 c.1244A>T p.K415I Substitution - Missense 13:111274762-111274762 + PD14453a COSM5777148 c.76G>A p.D26N Substitution - Missense 13:111115602-111115602 + TCGA-BR-8680-01 COSM4046014 c.1779G>A p.A593A Substitution - coding silent 13:111283192-111283192 + HCT8 COSM4633778 c.1057C>A p.L353M Substitution - Missense 13:111267591-111267591 + HCC166 COSM3704532 c.2068G>T p.A690S Substitution - Missense 13:111288377-111288377 + TCGA-BR-4362-01 COSM4046002 c.518A>G p.N173S Substitution - Missense 13:111217728-111217728 + HCT8 COSM4633779 c.994C>A p.L332M Substitution - Missense 13:111267591-111267591 + TCGA-EM-A1CS-01 COSM3369016 c.538A>G p.T180A Substitution - Missense 13:111217685-111217685 + TCGA-GM-A2DF-01 COSM3813419 c.1297G>A p.D433N Substitution - Missense 13:111274752-111274752 + TCGA-BR-A44U-01 COSM2263402 c.68C>A p.T23N Substitution - Missense 13:111115594-111115594 + HCT116 COSM2263442 c.1017G>A p.L339L Substitution - coding silent 13:111267551-111267551 + 41T COSM3711002 c.1007G>T p.C336F Substitution - Missense 13:111244288-111244288 + T3262 COSM2263400 c.61delA p.T23fs*13 Deletion - Frameshift 13:111115587-111115587 + TCGA-FS-A1ZK-06 COSM3467267 c.348G>A p.Q116Q Substitution - coding silent 13:111205321-111205321 + TCGA-A2-A0YK-01 COSM432128 c.1504C>T p.Q502* Substitution - Nonsense 13:111277671-111277671 + CRC-19T COSM5481107 c.1291C>T p.R431W Substitution - Missense 13:111275550-111275550 + TCGA-A2-A0YK-01 COSM5195605 c.1567C>T p.Q523* Substitution - Nonsense 13:111277671-111277671 + CSCC-27-T COSM4515281 c.956_957CC>TT p.P319L Substitution - Missense 13:111267553-111267554 + TCGA-C5-A7UE-01 COSM4856488 c.665G>A p.W222* Substitution - Nonsense 13:111217812-111217812 + I2L-P19Ta-Tumor-Organoid COSM69713 c.1777G>A p.A593T Substitution - Missense 13:111283190-111283190 + KYSE-140 COSM2263410 c.469C>T p.L157F Substitution - Missense 13:111209940-111209940 + TCGA-BS-A0UJ-01 COSM945441 c.1892T>C p.L631P Substitution - Missense 13:111283305-111283305 + T2225 COSM4663201 c.2212C>T p.R738C Substitution - Missense 13:111292195-111292195 + TCGA-BS-A0UV-01 COSM945429 c.910T>G p.F304V Substitution - Missense 13:111244254-111244254 + PD11750a COSM4663198 c.1388C>T p.T463M Substitution - Missense 13:111275584-111275584 + C086 COSM5526937 c.467C>T p.S156F Substitution - Missense 13:111209938-111209938 + HCC054T COSM5809618 c.197G>T p.C66F Substitution - Missense 13:111153936-111153936 + TCGA-D1-A15X-01 COSM945439 c.1833G>A p.P611P Substitution - coding silent 13:111283246-111283246 + T3503 COSM84237 c.1325C>T p.T442M Substitution - Missense 13:111275584-111275584 + TCGA-EE-A2GI-06 COSM3467269 c.871C>T p.Q291* Substitution - Nonsense 13:111243920-111243920 + Au4 COSM695981 c.1124T>C p.I375T Substitution - Missense 13:111273864-111273864 + TCGA-BR-4368-01 COSM4046007 c.1676C>T p.S559L Substitution - Missense 13:111280565-111280565 + TCGA-B0-5098-01 COSM1493136 c.1858C>A p.L620M Substitution - Missense 13:111283271-111283271 + PDA_033 COSM4999755 c.2109C>A p.S703R Substitution - Missense 13:111288355-111288355 + PTC-1C COSM4147589 c.1359G>T p.K453N Substitution - Missense 13:111275555-111275555 + Au1 COSM5596286 c.2081C>T p.S694L Substitution - Missense 13:111286214-111286214 + TCGA-EI-6917-01 COSM3417379 c.2366C>T p.S789F Substitution - Missense 13:111292286-111292286 + ESO-632 COSM1245434 c.377C>G p.S126W Substitution - Missense 13:111209911-111209911 + KM12 COSM4612740 c.60_61insA p.T23fs*65 Insertion - Frameshift 13:111115586-111115587 + TCGA-DD-A3A7-01 COSM4916211 c.1398C>A p.I466I Substitution - coding silent 13:111275594-111275594 + TCGA-EB-A3Y6-01 COSM3467276 c.1781C>T p.P594L Substitution - Missense 13:111283194-111283194 + TCGA-EK-A3GK-01 COSM4852885 c.1928C>T p.S643L Substitution - Missense 13:111283341-111283341 + TCGA-G4-6588-01 COSM1365508 c.1543C>T p.L515F Substitution - Missense 13:111280308-111280308 + I2L-P19Ta-Tumor-Biopsy COSM69713 c.1777G>A p.A593T Substitution - Missense 13:111283190-111283190 + Pa39X COSM84237 c.1325C>T p.T442M Substitution - Missense 13:111275584-111275584 + CSCC-27-T COSM4515280 c.1019_1020CC>TT p.P340L Substitution - Missense 13:111267553-111267554 + TCGA-A6-2670-01 COSM290969 c.1037A>G p.N346S Substitution - Missense 13:111267634-111267634 + TCGA-AA-3663-01 COSM1365493 c.278C>A p.P93H Substitution - Missense 13:111159052-111159052 + 3N33-VS-3T33 COSM4980868 c.1644A>T p.I548I Substitution - coding silent 13:111280346-111280346 + TCGA-AG-4007-01 COSM5071068 c.2135-7G>A p.? Unknown 13:111292111-111292111 + TCGA-CM-6168-01 COSM5827349 c.1596A>G p.T532T Substitution - coding silent 13:111280298-111280298 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.508729;Hs.508738 13q34 605477

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AAGT - SpliceDonorDeletion . c.917+3_917+6delAAGT 13 111896312 GBM A C IntronicSNV . c.401-572A>C 13 111861647 HC A C SpliceAcceptorSNV . c.918-2A>C 13 111896544 LUAD A G Missense p.N367S c.1100A>G 13 111919981 COREAD A G Missense p.T180A c.538A>G 13 111870032 THCA A T IntronicSNV . c.316-20328A>T 13 111837308 DLBCL - CA IntronicInsertion . c.165+7791_165+7792insCA 13 111775829 CM C A Synonymous p.R656R c.1966C>A 13 111935663 ESCA C A Synonymous p.S204S c.612C>A 13 111870106 UCEC CC TT Missense p.P394S c.1179_1180delinsTT 13 111926203 CM C G Missense p.S147W c.440C>G 13 111862258 ESCA C G Synonymous p.L730L c.2190C>G 13 111940783 UCEC C G Synonymous p.P340P c.1020C>G 13 111919901 HNSC C T IntronicSNV . c.316-21411C>T 13 111836225 CLL C T Missense p.H149Y c.445C>T 13 111862263 BRCA C T Missense p.H590Y c.1768C>T 13 111933004 STAD C T Missense p.R239C c.715C>T 13 111870209 UCEC C T Missense p.R792C c.2374C>T 13 111944641 CM C T Missense p.S324F c.971C>T 13 111896599 LUAD C T Missense p.S559L c.1676C>T 13 111932912 STAD C T Missense p.T463M c.1388C>T 13 111927931 PAAD C T Nonsense p.Q291* c.871C>T 13 111896267 CM C T Nonsense p.Q523* c.1567C>T 13 111930018 BRCA C T Synonymous p.F233F c.699C>T 13 111870193 CM C T Synonymous p.G471G c.1413C>T 13 111927956 SCLC C T Synonymous p.L410L c.1228C>T 13 111926252 COREAD C T Synonymous p.L48L c.142C>T 13 111768015 CM C T Synonymous p.L49L c.147C>T 13 111768020 CM C T Synonymous p.S393S c.1179C>T 13 111926203 CM C T Synonymous p.S68S c.204C>T 13 111806290 BRCA G A Missense p.A614T c.1840G>A 13 111935537 OV G A Missense p.D111N c.331G>A 13 111857651 UCEC G A Missense p.E495K c.1483G>A 13 111929934 BLCA G A Missense p.R150H c.449G>A 13 111862267 THCA G A Missense p.R452Q c.1355G>A 13 111927898 BRCA G A Missense p.R759H c.2276G>A 13 111944543 STAD G A Synonymous p.Q116Q c.348G>A 13 111857668 CM G A Synonymous p.Q485Q c.1455G>A 13 111927998 LUAD G C Missense p.C349S c.1046G>C 13 111919927 COREAD G C Missense p.E571Q c.1711G>C 13 111932947 BLCA G C Missense p.L511F c.1533G>C 13 111929984 LUAD G - Frameshift p.V16Cfs*20 c.46delG 13 111767915 LUAD G T Missense p.D754Y c.2260G>T 13 111944527 LUSC G T Missense p.V330L c.988G>T 13 111896616 LUAD G T Missense p.V558L c.1672G>T 13 111932908 RCCC G T Nonsense p.E554* c.1660G>T 13 111932896 LUSC T A Missense p.V213D c.638T>A 13 111870132 CM T C Missense p.I396T c.1187T>C 13 111926211 LUSC T C Missense p.L655P c.1964T>C 13 111935661 STAD T C Missense p.V558A c.1673T>C 13 111932909 UCEC T C Synonymous p.P414P c.1242T>C 13 111926266 STAD T C Synonymous p.Y364Y c.1092T>C 13 111919973 HNSC - T Frameshift p.L745Ffs*3 c.2234dupT 13 111944500 RCCC T G Missense p.M680R c.2039T>G 13 111938519 OV