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 17 74154491 74154491 + Missense_Mutation SNP C C T TCGA-OR-A5JW-01A-11D-A29I-10 TCGA-OR-A5JW-10A-01D-A29L-10 g.chr17:74154491C>T c.1396G>A c.(1396-1398)Gtt>Att p.V466I BLCA 17 74148488 74148488 + Silent SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr17:74148488G>A c.1869C>T c.(1867-1869)atC>atT p.I623I BLCA 17 74150388 74150388 + Missense_Mutation SNP C C T TCGA-UY-A78O-01A-12D-A339-08 TCGA-UY-A78O-10A-01D-A339-08 g.chr17:74150388C>T c.1786G>A c.(1786-1788)Gag>Aag p.E596K BLCA 17 74151721 74151721 + Silent SNP G G A TCGA-XF-AAN5-01A-11D-A42E-08 TCGA-XF-AAN5-10A-01D-A42H-08 g.chr17:74151721G>A c.1620C>T c.(1618-1620)atC>atT p.I540I BLCA 17 74152378 74152378 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 g.chr17:74152378C>T c.1438G>A c.(1438-1440)Gag>Aag p.E480K BLCA 17 74157697 74157697 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 g.chr17:74157697C>T c.984G>A c.(982-984)atG>atA p.M328I BLCA 17 74158008 74158008 + Silent SNP G G A TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr17:74158008G>A c.868C>T c.(868-870)Ctg>Ttg p.L290L BLCA 17 74161588 74161588 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr17:74161588C>G c.667G>C c.(667-669)Gag>Cag p.E223Q BLCA 17 74162587 74162587 + Missense_Mutation SNP C C T TCGA-XF-AAMQ-01A-11D-A42E-08 TCGA-XF-AAMQ-10A-01D-A42H-08 g.chr17:74162587C>T c.583G>A c.(583-585)Gaa>Aaa p.E195K BLCA 17 74169827 74169827 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 g.chr17:74169827C>T c.252G>A c.(250-252)ctG>ctA p.L84L BRCA 17 74150372 74150372 + Missense_Mutation SNP G G A TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 g.chr17:74150372G>A c.1802C>T c.(1801-1803)aCg>aTg p.T601M BRCA 17 74154505 74154505 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 g.chr17:74154505G>A c.1382C>T c.(1381-1383)tCt>tTt p.S461F BRCA 17 74154520 74154520 + Missense_Mutation SNP G G A TCGA-AN-A0XL-01A-11D-A10M-09 TCGA-AN-A0XL-10A-01D-A10M-09 g.chr17:74154520G>A c.1367C>T c.(1366-1368)tCg>tTg p.S456L BRCA 17 74208563 74208563 + Splice_Site SNP C C T TCGA-BH-A1FN-01A-11D-A13L-09 TCGA-BH-A1FN-11A-34D-A13O-09 g.chr17:74208563C>T c.89G>A c.(88-90)gGa>gAa p.G30E CESC 17 74158697 74158697 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr17:74158697C>T c.728G>A c.(727-729)gGg>gAg p.G243E CESC 17 74158698 74158698 + Missense_Mutation SNP C C A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 g.chr17:74158698C>A c.727G>T c.(727-729)Ggg>Tgg p.G243W CESC 17 74163187 74163187 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr17:74163187C>A c.464G>T c.(463-465)aGc>aTc p.S155I COAD 17 74148537 74148537 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr17:74148537G>A c.1820C>T c.(1819-1821)aCg>aTg p.T607M COAD 17 74151337 74151337 + Missense_Mutation SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr17:74151337G>A c.1760C>T c.(1759-1761)gCa>gTa p.A587V COAD 17 74152375 74152375 + Missense_Mutation SNP T T C TCGA-D5-6932-01A-11D-1924-10 TCGA-D5-6932-10A-01D-1924-10 g.chr17:74152375T>C c.1441A>G c.(1441-1443)Aat>Gat p.N481D COAD 17 74161623 74161623 + Missense_Mutation SNP T T C TCGA-AA-3524-01A-02W-0831-10 TCGA-AA-3524-10A-01W-0831-10 g.chr17:74161623T>C c.632A>G c.(631-633)tAt>tGt p.Y211C COAD 17 74163190 74163190 + Missense_Mutation SNP T T C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr17:74163190T>C c.461A>G c.(460-462)aAc>aGc p.N154S COADREAD 17 74148454 74148454 + Missense_Mutation SNP A A G TCGA-AG-3605-01A-01W-0833-10 TCGA-AG-3605-10A-01W-0833-10 g.chr17:74148454A>G c.1903T>C c.(1903-1905)Tct>Cct p.S635P COADREAD 17 74148537 74148537 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr17:74148537G>A c.1820C>T c.(1819-1821)aCg>aTg p.T607M COADREAD 17 74151337 74151337 + Missense_Mutation SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr17:74151337G>A c.1760C>T c.(1759-1761)gCa>gTa p.A587V COADREAD 17 74151352 74151352 + Missense_Mutation SNP G G T TCGA-G5-6235-01A-11D-1733-10 TCGA-G5-6235-10A-01D-1733-10 g.chr17:74151352G>T c.1745C>A c.(1744-1746)gCt>gAt p.A582D COADREAD 17 74152375 74152375 + Missense_Mutation SNP T T C TCGA-D5-6932-01A-11D-1924-10 TCGA-D5-6932-10A-01D-1924-10 g.chr17:74152375T>C c.1441A>G c.(1441-1443)Aat>Gat p.N481D COADREAD 17 74161623 74161623 + Missense_Mutation SNP T T C TCGA-AA-3524-01A-02W-0831-10 TCGA-AA-3524-10A-01W-0831-10 g.chr17:74161623T>C c.632A>G c.(631-633)tAt>tGt p.Y211C COADREAD 17 74163190 74163190 + Missense_Mutation SNP T T C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr17:74163190T>C c.461A>G c.(460-462)aAc>aGc p.N154S DLBC 17 74208466 74208466 + Silent SNP A A G TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr17:74208466A>G c.186T>C c.(184-186)ttT>ttC p.F62F GBM 17 74157723 74157723 + Missense_Mutation SNP G G A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 g.chr17:74157723G>A c.958C>T c.(958-960)Cgg>Tgg p.R320W GBMLGG 17 74157723 74157723 + Missense_Mutation SNP G G A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 g.chr17:74157723G>A c.958C>T c.(958-960)Cgg>Tgg p.R320W HNSC 17 74151749 74151749 + Missense_Mutation SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr17:74151749G>A c.1592C>T c.(1591-1593)aCc>aTc p.T531I HNSC 17 74154560 74154560 + Missense_Mutation SNP C C T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 g.chr17:74154560C>T c.1327G>A c.(1327-1329)Gtg>Atg p.V443M HNSC 17 74161588 74161588 + Missense_Mutation SNP C C G TCGA-CQ-6219-01A-11D-1912-08 TCGA-CQ-6219-10A-01D-1912-08 g.chr17:74161588C>G c.667G>C c.(667-669)Gag>Cag p.E223Q HNSC 17 74208539 74208539 + Missense_Mutation SNP A A G TCGA-CQ-A4CB-01A-11D-A25D-08 TCGA-CQ-A4CB-10A-01D-A25E-08 g.chr17:74208539A>G c.113T>C c.(112-114)aTt>aCt p.I38T KICH 17 74157965 74157965 + Missense_Mutation SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr17:74157965G>A c.911C>T c.(910-912)aCg>aTg p.T304M KIPAN 17 74157965 74157965 + Missense_Mutation SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr17:74157965G>A c.911C>T c.(910-912)aCg>aTg p.T304M KIPAN 17 74158077 74158077 + Nonsense_Mutation SNP C C A TCGA-BQ-7048-01A-11D-1961-08 TCGA-BQ-7048-11A-01D-1961-08 g.chr17:74158077C>A c.799G>T c.(799-801)Gaa>Taa p.E267* KIPAN 17 74163165 74163165 + Missense_Mutation SNP C C A TCGA-DW-7838-01A-11D-2136-08 TCGA-DW-7838-10A-01D-2136-08 g.chr17:74163165C>A c.486G>T c.(484-486)caG>caT p.Q162H KIRP 17 74158077 74158077 + Nonsense_Mutation SNP C C A TCGA-BQ-7048-01A-11D-1961-08 TCGA-BQ-7048-11A-01D-1961-08 g.chr17:74158077C>A c.799G>T c.(799-801)Gaa>Taa p.E267* KIRP 17 74163165 74163165 + Missense_Mutation SNP C C A TCGA-DW-7838-01A-11D-2136-08 TCGA-DW-7838-10A-01D-2136-08 g.chr17:74163165C>A c.486G>T c.(484-486)caG>caT p.Q162H LAML 17 74158051 74158051 + Silent SNP G G A TCGA-AB-2827-03B-01W-0728-08 TCGA-AB-2827-11B-01W-0728-08 g.chr17:74158051G>A c.825C>T c.(823-825)gcC>gcT p.A275A LIHC 17 74151646 74151646 + Silent SNP T T C TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr17:74151646T>C c.1695A>G c.(1693-1695)ggA>ggG p.G565G LIHC 17 74151751 74151751 + Silent SNP G G A TCGA-2Y-A9GZ-01A-11D-A38X-10 TCGA-2Y-A9GZ-10A-01D-A38X-10 g.chr17:74151751G>A c.1590C>T c.(1588-1590)gaC>gaT p.D530D LIHC 17 74169787 74169787 + Missense_Mutation SNP C C T TCGA-CC-A3MA-01A-11D-A20W-10 TCGA-CC-A3MA-10A-01D-A20W-10 g.chr17:74169787C>T c.292G>A c.(292-294)Gtc>Atc p.V98I LUAD 17 74150404 74150404 + Silent SNP A A G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 g.chr17:74150404A>G c.1770T>C c.(1768-1770)aaT>aaC p.N590N LUAD 17 74151342 74151342 + Missense_Mutation SNP C C A TCGA-17-Z010-01A-01W-0746-08 TCGA-17-Z010-11A-01W-0746-08 g.chr17:74151342C>A c.1755G>T c.(1753-1755)caG>caT p.Q585H LUAD 17 74151371 74151371 + Missense_Mutation SNP T T G TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chr17:74151371T>G c.1726A>C c.(1726-1728)Aac>Cac p.N576H LUAD 17 74152362 74152362 + Missense_Mutation SNP G G A TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr17:74152362G>A c.1454C>T c.(1453-1455)tCg>tTg p.S485L LUAD 17 74155488 74155488 + Missense_Mutation SNP C C T TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr17:74155488C>T c.1232G>A c.(1231-1233)aGg>aAg p.R411K LUAD 17 74155589 74155589 + Silent SNP G G A TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr17:74155589G>A c.1131C>T c.(1129-1131)ctC>ctT p.L377L LUAD 17 74157643 74157643 + Silent SNP G G T TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr17:74157643G>T c.1038C>A c.(1036-1038)tcC>tcA p.S346S LUAD 17 74158662 74158662 + Missense_Mutation SNP C C T TCGA-93-8067-01A-11D-2284-08 TCGA-93-8067-10A-01D-2284-08 g.chr17:74158662C>T c.763G>A c.(763-765)Gaa>Aaa p.E255K LUAD 17 74158669 74158669 + Silent SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 g.chr17:74158669A>G c.756T>C c.(754-756)taT>taC p.Y252Y LUAD 17 74163145 74163145 + Missense_Mutation SNP T T A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 g.chr17:74163145T>A c.506A>T c.(505-507)cAg>cTg p.Q169L LUSC 17 74148493 74148493 + Missense_Mutation SNP C C G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr17:74148493C>G c.1864G>C c.(1864-1866)Gac>Cac p.D622H LUSC 17 74150388 74150388 + Missense_Mutation SNP C C T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 g.chr17:74150388C>T c.1786G>A c.(1786-1788)Gag>Aag p.E596K LUSC 17 74154524 74154524 + Nonsense_Mutation SNP C C A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 g.chr17:74154524C>A c.1363G>T c.(1363-1365)Gag>Tag p.E455* LUSC 17 74157722 74157722 + Missense_Mutation SNP C C T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 g.chr17:74157722C>T c.959G>A c.(958-960)cGg>cAg p.R320Q LUSC 17 74163102 74163102 + Missense_Mutation SNP C C A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 g.chr17:74163102C>A c.549G>T c.(547-549)tgG>tgT p.W183C LUSC 17 74163754 74163754 + Missense_Mutation SNP C C T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 g.chr17:74163754C>T c.421G>A c.(421-423)Gag>Aag p.E141K OV 17 74152374 74152374 + Missense_Mutation SNP T T G TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 g.chr17:74152374T>G c.1442A>C c.(1441-1443)aAt>aCt p.N481T OV 17 74152377 74152377 + Frame_Shift_Del DEL T T - TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 g.chr17:74152377delT c.1439delA c.(1438-1440)gagfs p.E480fs OV 17 74158644 74158644 + Missense_Mutation SNP G G C TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 g.chr17:74158644G>C c.781C>G c.(781-783)Caa>Gaa p.Q261E OV 17 74160863 74160863 + Missense_Mutation SNP G G T TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 g.chr17:74160863G>T c.686C>A c.(685-687)aCt>aAt p.T229N PAAD 17 74154560 74154560 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:74154560C>T c.1327G>A c.(1327-1329)Gtg>Atg p.V443M PAAD 17 74169839 74169839 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:74169839G>A c.240C>T c.(238-240)ccC>ccT p.P80P PAAD 17 74169858 74169858 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:74169858G>A c.221C>T c.(220-222)gCc>gTc p.A74V READ 17 74148454 74148454 + Missense_Mutation SNP A A G TCGA-AG-3605-01A-01W-0833-10 TCGA-AG-3605-10A-01W-0833-10 g.chr17:74148454A>G c.1903T>C c.(1903-1905)Tct>Cct p.S635P READ 17 74151352 74151352 + Missense_Mutation SNP G G T TCGA-G5-6235-01A-11D-1733-10 TCGA-G5-6235-10A-01D-1733-10 g.chr17:74151352G>T c.1745C>A c.(1744-1746)gCt>gAt p.A582D SKCM 17 74151703 74151703 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr17:74151703C>T c.1638G>A c.(1636-1638)gaG>gaA p.E546E SKCM 17 74151734 74151734 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:74151734G>A c.1607C>T c.(1606-1608)tCt>tTt p.S536F SKCM 17 74151745 74151745 + Silent SNP G G A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr17:74151745G>A c.1596C>T c.(1594-1596)gtC>gtT p.V532V SKCM 17 74155521 74155521 + Missense_Mutation SNP G G A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr17:74155521G>A c.1199C>T c.(1198-1200)tCa>tTa p.S400L SKCM 17 74155587 74155587 + Missense_Mutation SNP G G A TCGA-EB-A5SG-06A-11D-A30X-08 TCGA-EB-A5SG-10A-01D-A30X-08 g.chr17:74155587G>A c.1133C>T c.(1132-1134)aCc>aTc p.T378I SKCM 17 74163761 74163761 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:74163761G>A c.414C>T c.(412-414)gcC>gcT p.A138A SKCM 17 74163764 74163764 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 g.chr17:74163764C>T c.411G>A c.(409-411)caG>caA p.Q137Q SKCM 17 74208526 74208526 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:74208526C>T c.126G>A c.(124-126)gaG>gaA p.E42E SKCM 17 74236267 74236267 + Missense_Mutation SNP A A C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr17:74236267A>C c.55T>G c.(55-57)Tct>Gct p.S19A

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 17 74136090 74136090 single base substitution G T downstream_gene_variant BLCA-US 17 74152378 74152378 single base substitution C T exon_variant BLCA-US 17 74152378 74152378 single base substitution C T missense_variant E480K 1438G>A BLCA-US 17 74152378 74152378 single base substitution C T upstream_gene_variant BRCA-EU 17 74133842 74133842 single base substitution C T downstream_gene_variant BRCA-EU 17 74135188 74135188 single base substitution T A downstream_gene_variant BRCA-EU 17 74136829 74136829 single base substitution C T downstream_gene_variant BRCA-EU 17 74138061 74138061 single base substitution T A downstream_gene_variant BRCA-EU 17 74139645 74139645 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 74139645 74139645 single base substitution G A downstream_gene_variant BRCA-EU 17 74139645 74139645 single base substitution G A intron_variant BRCA-EU 17 74139983 74139983 single base substitution C A 3_prime_UTR_variant BRCA-EU 17 74139983 74139983 single base substitution C A downstream_gene_variant BRCA-EU 17 74139983 74139983 single base substitution C A intron_variant BRCA-EU 17 74140474 74140474 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 74140474 74140474 single base substitution C T downstream_gene_variant BRCA-EU 17 74140474 74140474 single base substitution C T intron_variant BRCA-EU 17 74141161 74141161 single base substitution C G 3_prime_UTR_variant BRCA-EU 17 74141161 74141161 single base substitution C G downstream_gene_variant BRCA-EU 17 74141161 74141161 single base substitution C G exon_variant BRCA-EU 17 74141161 74141161 single base substitution C G upstream_gene_variant BRCA-EU 17 74141562 74141562 single base substitution G A intron_variant BRCA-EU 17 74141562 74141562 single base substitution G A upstream_gene_variant BRCA-EU 17 74141924 74141924 single base substitution A T intron_variant BRCA-EU 17 74141924 74141924 single base substitution A T upstream_gene_variant BRCA-EU 17 74142690 74142690 single base substitution C G intron_variant BRCA-EU 17 74142690 74142690 single base substitution C G upstream_gene_variant BRCA-EU 17 74144440 74144440 single base substitution C T intron_variant BRCA-EU 17 74144440 74144440 single base substitution C T upstream_gene_variant BRCA-EU 17 74145975 74145975 single base substitution C T downstream_gene_variant BRCA-EU 17 74145975 74145975 single base substitution C T intron_variant BRCA-EU 17 74146114 74146114 insertion of <=200bp - A downstream_gene_variant BRCA-EU 17 74146114 74146114 insertion of <=200bp - A intron_variant BRCA-EU 17 74146228 74146228 single base substitution T G downstream_gene_variant BRCA-EU 17 74146228 74146228 single base substitution T G intron_variant BRCA-EU 17 74146709 74146709 single base substitution C G downstream_gene_variant BRCA-EU 17 74146709 74146709 single base substitution C G intron_variant BRCA-EU 17 74147223 74147223 single base substitution C A downstream_gene_variant BRCA-EU 17 74147223 74147223 single base substitution C A intron_variant BRCA-EU 17 74148694 74148694 single base substitution C G downstream_gene_variant BRCA-EU 17 74148694 74148694 single base substitution C G intron_variant BRCA-EU 17 74148694 74148694 single base substitution C G upstream_gene_variant BRCA-EU 17 74150571 74150571 single base substitution G T intron_variant BRCA-EU 17 74150571 74150571 single base substitution G T upstream_gene_variant BRCA-EU 17 74151311 74151311 single base substitution C T intron_variant BRCA-EU 17 74151311 74151311 single base substitution C T upstream_gene_variant BRCA-EU 17 74151560 74151560 single base substitution G A intron_variant BRCA-EU 17 74151560 74151560 single base substitution G A upstream_gene_variant BRCA-EU 17 74152965 74152965 single base substitution C T downstream_gene_variant BRCA-EU 17 74152965 74152965 single base substitution C T intron_variant BRCA-EU 17 74152965 74152965 single base substitution C T upstream_gene_variant BRCA-EU 17 74153589 74153589 single base substitution T G downstream_gene_variant BRCA-EU 17 74153589 74153589 single base substitution T G intron_variant BRCA-EU 17 74153589 74153589 single base substitution T G upstream_gene_variant BRCA-EU 17 74154932 74154932 single base substitution G A downstream_gene_variant BRCA-EU 17 74154932 74154932 single base substitution G A intron_variant BRCA-EU 17 74154932 74154932 single base substitution G A upstream_gene_variant BRCA-EU 17 74155597 74155597 single base substitution C T downstream_gene_variant BRCA-EU 17 74155597 74155597 single base substitution C T missense_variant G375R 1123G>A BRCA-EU 17 74155597 74155597 single base substitution C T upstream_gene_variant BRCA-EU 17 74156117 74156117 single base substitution T C downstream_gene_variant BRCA-EU 17 74156117 74156117 single base substitution T C intron_variant BRCA-EU 17 74156117 74156117 single base substitution T C upstream_gene_variant BRCA-EU 17 74158071 74158071 single base substitution C T downstream_gene_variant BRCA-EU 17 74158071 74158071 single base substitution C T exon_variant BRCA-EU 17 74158071 74158071 single base substitution C T missense_variant E269K 805G>A BRCA-EU 17 74158071 74158071 single base substitution C T upstream_gene_variant BRCA-EU 17 74158467 74158467 single base substitution T G downstream_gene_variant BRCA-EU 17 74158467 74158467 single base substitution T G intron_variant BRCA-EU 17 74158467 74158467 single base substitution T G upstream_gene_variant BRCA-EU 17 74158611 74158611 single base substitution C T downstream_gene_variant BRCA-EU 17 74158611 74158611 single base substitution C T intron_variant BRCA-EU 17 74158611 74158611 single base substitution C T upstream_gene_variant BRCA-EU 17 74158745 74158745 single base substitution A G downstream_gene_variant BRCA-EU 17 74158745 74158745 single base substitution A G intron_variant BRCA-EU 17 74158745 74158745 single base substitution A G upstream_gene_variant BRCA-EU 17 74159905 74159905 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 74159905 74159905 single base substitution C T intron_variant BRCA-EU 17 74159905 74159905 single base substitution C T upstream_gene_variant BRCA-EU 17 74162934 74162934 single base substitution A G intron_variant BRCA-EU 17 74162934 74162934 single base substitution A G upstream_gene_variant BRCA-EU 17 74163376 74163376 single base substitution C G intron_variant BRCA-EU 17 74163376 74163376 single base substitution C G upstream_gene_variant BRCA-EU 17 74163376 74163376 single base substitution C T intron_variant BRCA-EU 17 74163376 74163376 single base substitution C T upstream_gene_variant BRCA-EU 17 74163847 74163847 single base substitution C G missense_variant E110Q 328G>C BRCA-EU 17 74163847 74163847 single base substitution C G upstream_gene_variant BRCA-EU 17 74165160 74165160 single base substitution C G intron_variant BRCA-EU 17 74165160 74165160 single base substitution C G upstream_gene_variant BRCA-EU 17 74165606 74165606 single base substitution G C intron_variant BRCA-EU 17 74165606 74165606 single base substitution G C upstream_gene_variant BRCA-EU 17 74168153 74168153 single base substitution C T intron_variant BRCA-EU 17 74168153 74168153 single base substitution C T upstream_gene_variant BRCA-EU 17 74168780 74168780 single base substitution C A intron_variant BRCA-EU 17 74168830 74168830 single base substitution C T intron_variant BRCA-EU 17 74169218 74169218 single base substitution T A intron_variant BRCA-EU 17 74169268 74169268 single base substitution G C intron_variant BRCA-EU 17 74169318 74169318 single base substitution G C intron_variant BRCA-EU 17 74170098 74170099 deletion of <=200bp TC - intron_variant BRCA-EU 17 74170157 74170157 deletion of <=200bp T - intron_variant BRCA-EU 17 74171318 74171318 single base substitution A C intron_variant BRCA-EU 17 74171504 74171504 single base substitution G T intron_variant BRCA-EU 17 74171595 74171595 single base substitution C A intron_variant BRCA-EU 17 74171838 74171838 deletion of <=200bp A - intron_variant BRCA-EU 17 74172890 74172890 single base substitution C T intron_variant BRCA-EU 17 74173987 74173987 single base substitution G C intron_variant BRCA-EU 17 74174977 74174977 single base substitution C G intron_variant BRCA-EU 17 74175235 74175235 single base substitution G A intron_variant BRCA-EU 17 74175480 74175480 deletion of <=200bp A - intron_variant BRCA-EU 17 74175913 74175913 single base substitution C G intron_variant BRCA-EU 17 74176561 74176561 single base substitution G C intron_variant BRCA-EU 17 74176734 74176734 single base substitution G C intron_variant BRCA-EU 17 74178353 74178353 single base substitution T C intron_variant BRCA-EU 17 74178956 74178956 single base substitution C T intron_variant BRCA-EU 17 74179217 74179217 single base substitution C T intron_variant BRCA-EU 17 74179532 74179532 insertion of <=200bp - T intron_variant BRCA-EU 17 74180706 74180706 single base substitution C G intron_variant BRCA-EU 17 74180968 74180968 single base substitution A C intron_variant BRCA-EU 17 74182588 74182588 single base substitution C G intron_variant BRCA-EU 17 74182618 74182618 single base substitution C A intron_variant BRCA-EU 17 74182622 74182622 single base substitution A C intron_variant BRCA-EU 17 74183797 74183797 single base substitution C T intron_variant BRCA-EU 17 74183846 74183846 deletion of <=200bp T - intron_variant BRCA-EU 17 74183905 74183905 single base substitution C G intron_variant BRCA-EU 17 74184182 74184182 single base substitution T A intron_variant BRCA-EU 17 74185170 74185170 single base substitution T C intron_variant BRCA-EU 17 74186253 74186253 single base substitution T C intron_variant BRCA-EU 17 74186583 74186583 single base substitution G A intron_variant BRCA-EU 17 74186989 74186989 single base substitution A G intron_variant BRCA-EU 17 74188158 74188158 single base substitution G T intron_variant BRCA-EU 17 74188621 74188621 single base substitution A T intron_variant BRCA-EU 17 74188636 74188636 deletion of <=200bp C - intron_variant BRCA-EU 17 74191711 74191711 single base substitution G A intron_variant BRCA-EU 17 74192337 74192337 single base substitution G A intron_variant BRCA-EU 17 74192686 74192686 single base substitution C T intron_variant BRCA-EU 17 74195000 74195000 single base substitution C T intron_variant BRCA-EU 17 74196059 74196059 single base substitution C G intron_variant BRCA-EU 17 74196726 74196726 single base substitution C T intron_variant BRCA-EU 17 74197392 74197392 single base substitution C A intron_variant BRCA-EU 17 74197790 74197790 single base substitution T A intron_variant BRCA-EU 17 74198111 74198111 deletion of <=200bp A - intron_variant BRCA-EU 17 74198842 74198842 single base substitution C G intron_variant BRCA-EU 17 74199650 74199650 single base substitution C T intron_variant BRCA-EU 17 74203312 74203312 single base substitution T A downstream_gene_variant BRCA-EU 17 74203312 74203312 single base substitution T A intron_variant BRCA-EU 17 74203552 74203552 single base substitution T C downstream_gene_variant BRCA-EU 17 74203552 74203552 single base substitution T C intron_variant BRCA-EU 17 74205149 74205149 single base substitution C A downstream_gene_variant BRCA-EU 17 74205149 74205149 single base substitution C A intron_variant BRCA-EU 17 74207766 74207766 single base substitution A C downstream_gene_variant BRCA-EU 17 74207766 74207766 single base substitution A C intron_variant BRCA-EU 17 74208293 74208293 single base substitution A T 3_prime_UTR_variant BRCA-EU 17 74208293 74208293 single base substitution A T intron_variant BRCA-EU 17 74208297 74208297 single base substitution A T 3_prime_UTR_variant BRCA-EU 17 74208297 74208297 single base substitution A T intron_variant BRCA-EU 17 74208519 74208519 single base substitution C G missense_variant D45H 133G>C BRCA-EU 17 74208660 74208660 single base substitution G T intron_variant BRCA-EU 17 74208668 74208668 single base substitution C T intron_variant BRCA-EU 17 74209890 74209890 single base substitution C T intron_variant BRCA-EU 17 74210939 74210939 single base substitution G A intron_variant BRCA-EU 17 74211105 74211105 single base substitution C T intron_variant BRCA-EU 17 74215079 74215079 single base substitution G C intron_variant BRCA-EU 17 74216211 74216211 single base substitution C G intron_variant BRCA-EU 17 74216382 74216382 single base substitution C T intron_variant BRCA-EU 17 74216934 74216934 single base substitution G C intron_variant BRCA-EU 17 74217362 74217362 single base substitution G A intron_variant BRCA-EU 17 74217423 74217423 deletion of <=200bp A - intron_variant BRCA-EU 17 74218060 74218060 single base substitution G C intron_variant BRCA-EU 17 74219683 74219683 deletion of <=200bp T - intron_variant BRCA-EU 17 74221968 74221968 single base substitution G A intron_variant BRCA-EU 17 74222033 74222033 single base substitution C A intron_variant BRCA-EU 17 74222734 74222734 single base substitution C T intron_variant BRCA-EU 17 74224703 74224703 single base substitution C A intron_variant BRCA-EU 17 74224762 74224762 single base substitution G C intron_variant BRCA-EU 17 74224807 74224807 single base substitution C T intron_variant BRCA-EU 17 74224837 74224837 single base substitution C T intron_variant BRCA-EU 17 74224969 74224969 single base substitution G C intron_variant BRCA-EU 17 74224988 74224988 single base substitution G C intron_variant BRCA-EU 17 74225186 74225186 single base substitution C T intron_variant BRCA-EU 17 74225305 74225305 single base substitution C A intron_variant BRCA-EU 17 74225765 74225765 single base substitution C A intron_variant BRCA-EU 17 74226165 74226165 single base substitution G A intron_variant BRCA-EU 17 74227083 74227083 single base substitution G C intron_variant BRCA-EU 17 74228261 74228261 single base substitution C T intron_variant BRCA-EU 17 74228388 74228388 single base substitution G C intron_variant BRCA-EU 17 74229061 74229061 single base substitution G A intron_variant BRCA-EU 17 74229148 74229148 single base substitution C T intron_variant BRCA-EU 17 74230659 74230659 single base substitution G A intron_variant BRCA-EU 17 74231716 74231716 deletion of <=200bp G - intron_variant BRCA-EU 17 74231773 74231773 single base substitution G C intron_variant BRCA-EU 17 74231874 74231874 single base substitution G C intron_variant BRCA-EU 17 74232126 74232126 single base substitution C A intron_variant BRCA-EU 17 74232145 74232145 single base substitution G C intron_variant BRCA-EU 17 74232206 74232206 single base substitution C T intron_variant BRCA-EU 17 74232249 74232249 single base substitution C G intron_variant BRCA-EU 17 74232583 74232583 single base substitution C T intron_variant BRCA-EU 17 74232826 74232826 deletion of <=200bp A - intron_variant BRCA-EU 17 74233245 74233245 single base substitution C T intron_variant BRCA-EU 17 74233395 74233395 single base substitution C G intron_variant BRCA-EU 17 74234066 74234066 single base substitution G A intron_variant BRCA-EU 17 74236159 74236159 single base substitution C A intron_variant BRCA-EU 17 74236716 74236716 single base substitution G C upstream_gene_variant BRCA-EU 17 74238695 74238695 single base substitution A G upstream_gene_variant BRCA-EU 17 74239332 74239332 single base substitution T A upstream_gene_variant BRCA-EU 17 74239465 74239465 single base substitution C T upstream_gene_variant BRCA-EU 17 74239695 74239695 single base substitution G T upstream_gene_variant BRCA-EU 17 74240700 74240700 single base substitution T A upstream_gene_variant BRCA-EU 17 74240881 74240881 single base substitution G A upstream_gene_variant BRCA-FR 17 74141161 74141161 single base substitution C G 3_prime_UTR_variant BRCA-FR 17 74141161 74141161 single base substitution C G downstream_gene_variant BRCA-FR 17 74141161 74141161 single base substitution C G exon_variant BRCA-FR 17 74141161 74141161 single base substitution C G upstream_gene_variant BRCA-FR 17 74142690 74142690 single base substitution C G intron_variant BRCA-FR 17 74142690 74142690 single base substitution C G upstream_gene_variant BRCA-FR 17 74154932 74154932 single base substitution G A downstream_gene_variant BRCA-FR 17 74154932 74154932 single base substitution G A intron_variant BRCA-FR 17 74154932 74154932 single base substitution G A upstream_gene_variant BRCA-FR 17 74158611 74158611 single base substitution C T downstream_gene_variant BRCA-FR 17 74158611 74158611 single base substitution C T intron_variant BRCA-FR 17 74158611 74158611 single base substitution C T upstream_gene_variant BRCA-FR 17 74158745 74158745 single base substitution A G downstream_gene_variant BRCA-FR 17 74158745 74158745 single base substitution A G intron_variant BRCA-FR 17 74158745 74158745 single base substitution A G upstream_gene_variant BRCA-FR 17 74163376 74163376 single base substitution C T intron_variant BRCA-FR 17 74163376 74163376 single base substitution C T upstream_gene_variant BRCA-FR 17 74163847 74163847 single base substitution C G missense_variant E110Q 328G>C BRCA-FR 17 74163847 74163847 single base substitution C G upstream_gene_variant BRCA-FR 17 74169268 74169268 single base substitution G C intron_variant BRCA-FR 17 74169318 74169318 single base substitution G C intron_variant BRCA-FR 17 74173780 74173780 single base substitution G A intron_variant BRCA-FR 17 74173987 74173987 single base substitution G C intron_variant BRCA-FR 17 74177958 74177958 single base substitution C T intron_variant BRCA-FR 17 74179826 74179826 single base substitution C G intron_variant BRCA-FR 17 74182588 74182588 single base substitution C G intron_variant BRCA-FR 17 74197790 74197790 single base substitution T A intron_variant BRCA-FR 17 74205149 74205149 single base substitution C A downstream_gene_variant BRCA-FR 17 74205149 74205149 single base substitution C A intron_variant BRCA-FR 17 74215079 74215079 single base substitution G C intron_variant BRCA-FR 17 74216934 74216934 single base substitution G C intron_variant BRCA-FR 17 74218060 74218060 single base substitution G C intron_variant BRCA-FR 17 74224171 74224171 single base substitution C T intron_variant BRCA-FR 17 74226165 74226165 single base substitution G A intron_variant BRCA-FR 17 74232249 74232249 single base substitution C G intron_variant BRCA-KR 17 74158066 74158066 single base substitution C A downstream_gene_variant BRCA-KR 17 74158066 74158066 single base substitution C A exon_variant BRCA-KR 17 74158066 74158066 single base substitution C A synonymous_variant V270V 810G>T BRCA-KR 17 74158066 74158066 single base substitution C A upstream_gene_variant BRCA-UK 17 74155597 74155597 single base substitution C T downstream_gene_variant BRCA-UK 17 74155597 74155597 single base substitution C T missense_variant G375R 1123G>A BRCA-UK 17 74155597 74155597 single base substitution C T upstream_gene_variant BRCA-UK 17 74156810 74156810 single base substitution C T downstream_gene_variant BRCA-UK 17 74156810 74156810 single base substitution C T intron_variant BRCA-UK 17 74156810 74156810 single base substitution C T upstream_gene_variant BRCA-UK 17 74207766 74207766 single base substitution A C downstream_gene_variant BRCA-UK 17 74207766 74207766 single base substitution A C intron_variant BRCA-UK 17 74224366 74224366 single base substitution C G intron_variant BRCA-UK 17 74224411 74224411 single base substitution C T intron_variant BRCA-UK 17 74240881 74240881 single base substitution G A upstream_gene_variant BRCA-US 17 74133620 74133620 deletion of <=200bp C - downstream_gene_variant BRCA-US 17 74150372 74150372 single base substitution G A downstream_gene_variant BRCA-US 17 74150372 74150372 single base substitution G A missense_variant T108M 323C>T BRCA-US 17 74150372 74150372 single base substitution G A missense_variant T579M 1736C>T BRCA-US 17 74150372 74150372 single base substitution G A missense_variant T601M 1802C>T BRCA-US 17 74150372 74150372 single base substitution G A upstream_gene_variant BRCA-US 17 74154505 74154505 single base substitution G A downstream_gene_variant BRCA-US 17 74154505 74154505 single base substitution G A exon_variant BRCA-US 17 74154505 74154505 single base substitution G A missense_variant S461F 1382C>T BRCA-US 17 74154505 74154505 single base substitution G A upstream_gene_variant BRCA-US 17 74154520 74154520 single base substitution G A downstream_gene_variant BRCA-US 17 74154520 74154520 single base substitution G A exon_variant BRCA-US 17 74154520 74154520 single base substitution G A missense_variant S456L 1367C>T BRCA-US 17 74154520 74154520 single base substitution G A upstream_gene_variant BRCA-US 17 74208563 74208563 single base substitution C T missense_variant G30E 89G>A BTCA-JP 17 74135966 74135966 single base substitution G A downstream_gene_variant BTCA-JP 17 74136150 74136150 deletion of <=200bp G - downstream_gene_variant BTCA-JP 17 74141409 74141409 single base substitution G A 3_prime_UTR_variant BTCA-JP 17 74141409 74141409 single base substitution G A exon_variant BTCA-JP 17 74141409 74141409 single base substitution G A synonymous_variant A627A 1881C>T BTCA-JP 17 74141409 74141409 single base substitution G A synonymous_variant A649A 1947C>T BTCA-JP 17 74141409 74141409 single base substitution G A upstream_gene_variant BTCA-JP 17 74148532 74148532 single base substitution C T downstream_gene_variant BTCA-JP 17 74148532 74148532 single base substitution C T exon_variant BTCA-JP 17 74148532 74148532 single base substitution C T missense_variant A116T 346G>A BTCA-JP 17 74148532 74148532 single base substitution C T missense_variant A587T 1759G>A BTCA-JP 17 74148532 74148532 single base substitution C T missense_variant A609T 1825G>A BTCA-JP 17 74150267 74150267 single base substitution G A downstream_gene_variant BTCA-JP 17 74150267 74150267 single base substitution G A intron_variant BTCA-JP 17 74150267 74150267 single base substitution G A upstream_gene_variant BTCA-JP 17 74155598 74155598 single base substitution G A downstream_gene_variant BTCA-JP 17 74155598 74155598 single base substitution G A synonymous_variant N374N 1122C>T BTCA-JP 17 74155598 74155598 single base substitution G A upstream_gene_variant BTCA-JP 17 74155705 74155705 single base substitution A G downstream_gene_variant BTCA-JP 17 74155705 74155705 single base substitution A G intron_variant BTCA-JP 17 74155705 74155705 single base substitution A G upstream_gene_variant BTCA-JP 17 74161693 74161693 single base substitution C T intron_variant BTCA-JP 17 74161693 74161693 single base substitution C T upstream_gene_variant BTCA-JP 17 74208623 74208623 deletion of <=200bp A - intron_variant CESC-US 17 74133686 74133686 single base substitution G A downstream_gene_variant CESC-US 17 74158697 74158697 single base substitution C T downstream_gene_variant CESC-US 17 74158697 74158697 single base substitution C T missense_variant G243E 728G>A CESC-US 17 74158697 74158697 single base substitution C T upstream_gene_variant CESC-US 17 74158698 74158698 single base substitution C A downstream_gene_variant CESC-US 17 74158698 74158698 single base substitution C A missense_variant G243W 727G>T CESC-US 17 74158698 74158698 single base substitution C A upstream_gene_variant CESC-US 17 74163187 74163187 single base substitution C A missense_variant S155I 464G>T CESC-US 17 74163187 74163187 single base substitution C A upstream_gene_variant CLLE-ES 17 74152657 74152657 single base substitution A G downstream_gene_variant CLLE-ES 17 74152657 74152657 single base substitution A G intron_variant CLLE-ES 17 74152657 74152657 single base substitution A G upstream_gene_variant CLLE-ES 17 74165005 74165005 single base substitution G A intron_variant CLLE-ES 17 74165005 74165005 single base substitution G A upstream_gene_variant CLLE-ES 17 74171783 74171783 single base substitution T C intron_variant CLLE-ES 17 74173166 74173166 single base substitution G T intron_variant CLLE-ES 17 74240809 74240809 single base substitution G A upstream_gene_variant COAD-US 17 74133974 74133974 single base substitution C T downstream_gene_variant COAD-US 17 74136414 74136414 single base substitution G A downstream_gene_variant COAD-US 17 74148537 74148537 single base substitution G A downstream_gene_variant COAD-US 17 74148537 74148537 single base substitution G A exon_variant COAD-US 17 74148537 74148537 single base substitution G A missense_variant T114M 341C>T COAD-US 17 74148537 74148537 single base substitution G A missense_variant T585M 1754C>T COAD-US 17 74148537 74148537 single base substitution G A missense_variant T607M 1820C>T COAD-US 17 74151337 74151337 single base substitution G A exon_variant COAD-US 17 74151337 74151337 single base substitution G A intron_variant COAD-US 17 74151337 74151337 single base substitution G A missense_variant A587V 1760C>T COAD-US 17 74151337 74151337 single base substitution G A missense_variant A94V 281C>T COAD-US 17 74151337 74151337 single base substitution G A upstream_gene_variant COAD-US 17 74163821 74163821 single base substitution G A synonymous_variant Y118Y 354C>T COAD-US 17 74163821 74163821 single base substitution G A upstream_gene_variant COCA-CN 17 74161509 74161509 single base substitution C A intron_variant COCA-CN 17 74161509 74161509 single base substitution C A upstream_gene_variant COCA-CN 17 74163809 74163809 single base substitution G T missense_variant F122L 366C>A COCA-CN 17 74163809 74163809 single base substitution G T upstream_gene_variant COCA-CN 17 74168449 74168449 single base substitution G T intron_variant EOPC-DE 17 74140852 74140852 single base substitution A G 3_prime_UTR_variant EOPC-DE 17 74140852 74140852 single base substitution A G downstream_gene_variant EOPC-DE 17 74140852 74140852 single base substitution A G upstream_gene_variant EOPC-DE 17 74156771 74156771 single base substitution T C downstream_gene_variant EOPC-DE 17 74156771 74156771 single base substitution T C intron_variant EOPC-DE 17 74156771 74156771 single base substitution T C upstream_gene_variant EOPC-DE 17 74238037 74238037 single base substitution T G upstream_gene_variant ESAD-UK 17 74137158 74137158 single base substitution C T downstream_gene_variant ESAD-UK 17 74138281 74138281 single base substitution C T downstream_gene_variant ESAD-UK 17 74140008 74140008 single base substitution C T 3_prime_UTR_variant ESAD-UK 17 74140008 74140008 single base substitution C T downstream_gene_variant ESAD-UK 17 74140008 74140008 single base substitution C T intron_variant ESAD-UK 17 74143208 74143208 insertion of <=200bp - T intron_variant ESAD-UK 17 74143208 74143208 insertion of <=200bp - T upstream_gene_variant ESAD-UK 17 74144061 74144061 single base substitution C G intron_variant ESAD-UK 17 74144061 74144061 single base substitution C G upstream_gene_variant ESAD-UK 17 74144902 74144902 single base substitution C A intron_variant ESAD-UK 17 74144902 74144902 single base substitution C A upstream_gene_variant ESAD-UK 17 74149247 74149247 single base substitution G A downstream_gene_variant ESAD-UK 17 74149247 74149247 single base substitution G A intron_variant ESAD-UK 17 74149247 74149247 single base substitution G A upstream_gene_variant ESAD-UK 17 74149420 74149420 single base substitution C T downstream_gene_variant ESAD-UK 17 74149420 74149420 single base substitution C T intron_variant ESAD-UK 17 74149420 74149420 single base substitution C T upstream_gene_variant ESAD-UK 17 74149707 74149707 single base substitution C T downstream_gene_variant ESAD-UK 17 74149707 74149707 single base substitution C T intron_variant ESAD-UK 17 74149707 74149707 single base substitution C T upstream_gene_variant ESAD-UK 17 74150907 74150907 single base substitution G T intron_variant ESAD-UK 17 74150907 74150907 single base substitution G T upstream_gene_variant ESAD-UK 17 74152981 74152981 single base substitution A T downstream_gene_variant ESAD-UK 17 74152981 74152981 single base substitution A T intron_variant ESAD-UK 17 74152981 74152981 single base substitution A T upstream_gene_variant ESAD-UK 17 74155399 74155399 single base substitution G A downstream_gene_variant ESAD-UK 17 74155399 74155399 single base substitution G A intron_variant ESAD-UK 17 74155399 74155399 single base substitution G A upstream_gene_variant ESAD-UK 17 74159464 74159464 single base substitution C T 3_prime_UTR_variant ESAD-UK 17 74159464 74159464 single base substitution C T intron_variant ESAD-UK 17 74159464 74159464 single base substitution C T upstream_gene_variant ESAD-UK 17 74161408 74161408 single base substitution G A intron_variant ESAD-UK 17 74161408 74161408 single base substitution G A upstream_gene_variant ESAD-UK 17 74164295 74164295 single base substitution C T intron_variant ESAD-UK 17 74164295 74164295 single base substitution C T upstream_gene_variant ESAD-UK 17 74164327 74164327 single base substitution G A intron_variant ESAD-UK 17 74164327 74164327 single base substitution G A upstream_gene_variant ESAD-UK 17 74166970 74166970 single base substitution T A intron_variant ESAD-UK 17 74166970 74166970 single base substitution T A upstream_gene_variant ESAD-UK 17 74167085 74167085 single base substitution T C intron_variant ESAD-UK 17 74167085 74167085 single base substitution T C upstream_gene_variant ESAD-UK 17 74167416 74167416 single base substitution C T intron_variant ESAD-UK 17 74167416 74167416 single base substitution C T upstream_gene_variant ESAD-UK 17 74167640 74167640 single base substitution C A intron_variant ESAD-UK 17 74167640 74167640 single base substitution C A upstream_gene_variant ESAD-UK 17 74167669 74167669 single base substitution G A intron_variant ESAD-UK 17 74167669 74167669 single base substitution G A upstream_gene_variant ESAD-UK 17 74168529 74168529 single base substitution G A intron_variant ESAD-UK 17 74168905 74168905 single base substitution C T intron_variant ESAD-UK 17 74169031 74169032 deletion of <=200bp CT - intron_variant ESAD-UK 17 74170052 74170052 single base substitution G A intron_variant ESAD-UK 17 74170408 74170408 single base substitution T A intron_variant ESAD-UK 17 74170950 74170950 single base substitution T G intron_variant ESAD-UK 17 74175213 74175213 single base substitution G A intron_variant ESAD-UK 17 74175378 74175378 single base substitution C T intron_variant ESAD-UK 17 74175515 74175515 single base substitution C G intron_variant ESAD-UK 17 74175578 74175578 single base substitution G A intron_variant ESAD-UK 17 74175830 74175830 single base substitution T C intron_variant ESAD-UK 17 74176773 74176773 single base substitution G T intron_variant ESAD-UK 17 74177045 74177045 single base substitution G A intron_variant ESAD-UK 17 74178415 74178415 single base substitution C T intron_variant ESAD-UK 17 74179182 74179182 single base substitution A T intron_variant ESAD-UK 17 74179205 74179205 single base substitution A T intron_variant ESAD-UK 17 74182611 74182611 insertion of <=200bp - A intron_variant ESAD-UK 17 74184078 74184078 single base substitution G A intron_variant ESAD-UK 17 74184375 74184375 single base substitution C G intron_variant ESAD-UK 17 74185388 74185388 single base substitution G A intron_variant ESAD-UK 17 74186234 74186234 single base substitution C T intron_variant ESAD-UK 17 74186340 74186340 single base substitution C T intron_variant ESAD-UK 17 74188234 74188234 single base substitution C T intron_variant ESAD-UK 17 74188522 74188522 single base substitution G A intron_variant ESAD-UK 17 74191096 74191096 insertion of <=200bp - A intron_variant ESAD-UK 17 74194180 74194180 single base substitution C T intron_variant ESAD-UK 17 74196575 74196575 single base substitution G A intron_variant ESAD-UK 17 74199091 74199091 single base substitution T G intron_variant ESAD-UK 17 74199092 74199092 single base substitution T A intron_variant ESAD-UK 17 74200444 74200444 single base substitution G C intron_variant ESAD-UK 17 74202318 74202318 deletion of <=200bp A - intron_variant ESAD-UK 17 74205160 74205160 single base substitution T A downstream_gene_variant ESAD-UK 17 74205160 74205160 single base substitution T A intron_variant ESAD-UK 17 74205615 74205615 single base substitution C T downstream_gene_variant ESAD-UK 17 74205615 74205615 single base substitution C T intron_variant ESAD-UK 17 74206896 74206896 deletion of <=200bp T - downstream_gene_variant ESAD-UK 17 74206896 74206896 deletion of <=200bp T - intron_variant ESAD-UK 17 74209212 74209212 single base substitution C T intron_variant ESAD-UK 17 74210504 74210504 single base substitution C T intron_variant ESAD-UK 17 74211316 74211316 single base substitution G T intron_variant ESAD-UK 17 74211710 74211710 single base substitution G A intron_variant ESAD-UK 17 74212443 74212443 single base substitution G A intron_variant ESAD-UK 17 74220050 74220050 single base substitution G A intron_variant ESAD-UK 17 74221829 74221829 single base substitution C A intron_variant ESAD-UK 17 74224334 74224334 single base substitution C T intron_variant ESAD-UK 17 74225768 74225768 single base substitution C G intron_variant ESAD-UK 17 74228293 74228293 single base substitution G A intron_variant ESAD-UK 17 74231446 74231446 deletion of <=200bp T - intron_variant ESAD-UK 17 74232839 74232839 single base substitution G A intron_variant ESAD-UK 17 74237588 74237588 deletion of <=200bp T - upstream_gene_variant ESAD-UK 17 74239140 74239140 single base substitution C T upstream_gene_variant ESAD-UK 17 74239529 74239529 single base substitution T G upstream_gene_variant ESAD-UK 17 74240503 74240503 single base substitution G A upstream_gene_variant ESAD-UK 17 74241143 74241143 single base substitution G C upstream_gene_variant ESCA-CN 17 74151350 74151350 single base substitution C T exon_variant ESCA-CN 17 74151350 74151350 single base substitution C T intron_variant ESCA-CN 17 74151350 74151350 single base substitution C T missense_variant G583R 1747G>A ESCA-CN 17 74151350 74151350 single base substitution C T missense_variant G90R 268G>A ESCA-CN 17 74151350 74151350 single base substitution C T upstream_gene_variant ESCA-CN 17 74151702 74151702 single base substitution C A exon_variant ESCA-CN 17 74151702 74151702 single base substitution C A stop_gained E54* 160G>T ESCA-CN 17 74151702 74151702 single base substitution C A stop_gained E547* 1639G>T ESCA-CN 17 74151702 74151702 single base substitution C A upstream_gene_variant GBM-US 17 74136123 74136123 single base substitution C A downstream_gene_variant GBM-US 17 74157723 74157723 single base substitution G A downstream_gene_variant GBM-US 17 74157723 74157723 single base substitution G A exon_variant GBM-US 17 74157723 74157723 single base substitution G A missense_variant R320W 958C>T GBM-US 17 74157723 74157723 single base substitution G A upstream_gene_variant KIRP-US 17 74134123 74134123 single base substitution C A downstream_gene_variant KIRP-US 17 74158077 74158077 single base substitution C A downstream_gene_variant KIRP-US 17 74158077 74158077 single base substitution C A exon_variant KIRP-US 17 74158077 74158077 single base substitution C A stop_gained E267* 799G>T KIRP-US 17 74158077 74158077 single base substitution C A upstream_gene_variant KIRP-US 17 74163165 74163165 single base substitution C A missense_variant Q162H 486G>T KIRP-US 17 74163165 74163165 single base substitution C A upstream_gene_variant LAML-KR 17 74160729 74160729 single base substitution T A 3_prime_UTR_variant LAML-KR 17 74160729 74160729 single base substitution T A intron_variant LAML-KR 17 74160729 74160729 single base substitution T A upstream_gene_variant LAML-KR 17 74167227 74167227 single base substitution C T intron_variant LAML-KR 17 74167227 74167227 single base substitution C T upstream_gene_variant LAML-KR 17 74167492 74167492 single base substitution A T intron_variant LAML-KR 17 74167492 74167492 single base substitution A T upstream_gene_variant LAML-KR 17 74202812 74202812 single base substitution A G intron_variant LAML-KR 17 74222512 74222512 single base substitution G A intron_variant LAML-KR 17 74222513 74222513 single base substitution G A intron_variant LGG-US 17 74136327 74136327 deletion of <=200bp G - downstream_gene_variant LICA-CN 17 74133580 74133580 single base substitution C A downstream_gene_variant LICA-CN 17 74154553 74154553 single base substitution T A downstream_gene_variant LICA-CN 17 74154553 74154553 single base substitution T A exon_variant LICA-CN 17 74154553 74154553 single base substitution T A missense_variant H445L 1334A>T LICA-CN 17 74154553 74154553 single base substitution T A upstream_gene_variant LICA-FR 17 74136303 74136303 single base substitution G A downstream_gene_variant LICA-FR 17 74141367 74141367 single base substitution G A 3_prime_UTR_variant LICA-FR 17 74141367 74141367 single base substitution G A exon_variant LICA-FR 17 74141367 74141367 single base substitution G A synonymous_variant S641S 1923C>T LICA-FR 17 74141367 74141367 single base substitution G A synonymous_variant S663S 1989C>T LICA-FR 17 74141367 74141367 single base substitution G A upstream_gene_variant LICA-FR 17 74144468 74144468 single base substitution C T intron_variant LICA-FR 17 74144468 74144468 single base substitution C T upstream_gene_variant LICA-FR 17 74157656 74157656 single base substitution G A downstream_gene_variant LICA-FR 17 74157656 74157656 single base substitution G A exon_variant LICA-FR 17 74157656 74157656 single base substitution G A missense_variant P342L 1025C>T LICA-FR 17 74157656 74157656 single base substitution G A upstream_gene_variant LICA-FR 17 74163157 74163157 single base substitution C T missense_variant R165Q 494G>A LICA-FR 17 74163157 74163157 single base substitution C T missense_variant R2Q 5G>A LICA-FR 17 74163157 74163157 single base substitution C T upstream_gene_variant LICA-FR 17 74207010 74207010 single base substitution G A downstream_gene_variant LICA-FR 17 74207010 74207010 single base substitution G A intron_variant LICA-FR 17 74208324 74208324 single base substitution A G 3_prime_UTR_variant LICA-FR 17 74208324 74208324 single base substitution A G intron_variant LICA-FR 17 74219355 74219355 single base substitution G A intron_variant LICA-FR 17 74221544 74221544 single base substitution T C intron_variant LICA-FR 17 74228759 74228759 single base substitution C T intron_variant LIHC-US 17 74151646 74151646 single base substitution T C exon_variant LIHC-US 17 74151646 74151646 single base substitution T C synonymous_variant G565G 1695A>G LIHC-US 17 74151646 74151646 single base substitution T C synonymous_variant G72G 216A>G LIHC-US 17 74151646 74151646 single base substitution T C upstream_gene_variant LIHC-US 17 74169787 74169787 single base substitution C T missense_variant V98I 292G>A LINC-JP 17 74134003 74134003 single base substitution T C downstream_gene_variant LINC-JP 17 74134045 74134045 single base substitution G A downstream_gene_variant LINC-JP 17 74136993 74136993 single base substitution G A downstream_gene_variant LINC-JP 17 74139869 74139869 single base substitution T G 3_prime_UTR_variant LINC-JP 17 74139869 74139869 single base substitution T G downstream_gene_variant LINC-JP 17 74139869 74139869 single base substitution T G intron_variant LINC-JP 17 74148735 74148735 single base substitution C T downstream_gene_variant LINC-JP 17 74148735 74148735 single base substitution C T intron_variant LINC-JP 17 74148735 74148735 single base substitution C T upstream_gene_variant LINC-JP 17 74161727 74161727 single base substitution A T intron_variant LINC-JP 17 74161727 74161727 single base substitution A T upstream_gene_variant LINC-JP 17 74162581 74162581 single base substitution A G missense_variant Y197H 589T>C LINC-JP 17 74162581 74162581 single base substitution A G missense_variant Y34H 100T>C LINC-JP 17 74162581 74162581 single base substitution A G upstream_gene_variant LINC-JP 17 74163905 74163905 single base substitution C T intron_variant LINC-JP 17 74163905 74163905 single base substitution C T upstream_gene_variant LINC-JP 17 74171971 74171971 single base substitution T C intron_variant LINC-JP 17 74173465 74173465 single base substitution T C intron_variant LINC-JP 17 74176513 74176513 single base substitution G T intron_variant LINC-JP 17 74183305 74183305 single base substitution C A intron_variant LINC-JP 17 74188974 74188974 single base substitution G A intron_variant LINC-JP 17 74205150 74205150 deletion of <=200bp T - downstream_gene_variant LINC-JP 17 74205150 74205150 deletion of <=200bp T - intron_variant LINC-JP 17 74211052 74211052 single base substitution C T intron_variant LINC-JP 17 74217164 74217164 single base substitution T C intron_variant LINC-JP 17 74225651 74225651 single base substitution A C intron_variant LINC-JP 17 74237806 74237806 single base substitution C A upstream_gene_variant LIRI-JP 17 74134122 74134122 single base substitution C G downstream_gene_variant LIRI-JP 17 74134494 74134494 single base substitution C A downstream_gene_variant LIRI-JP 17 74139385 74139385 single base substitution T C 3_prime_UTR_variant LIRI-JP 17 74139385 74139385 single base substitution T C downstream_gene_variant LIRI-JP 17 74139385 74139385 single base substitution T C intron_variant LIRI-JP 17 74139390 74139390 single base substitution T G 3_prime_UTR_variant LIRI-JP 17 74139390 74139390 single base substitution T G downstream_gene_variant LIRI-JP 17 74139390 74139390 single base substitution T G intron_variant LIRI-JP 17 74140320 74140320 single base substitution G A 3_prime_UTR_variant LIRI-JP 17 74140320 74140320 single base substitution G A downstream_gene_variant LIRI-JP 17 74140320 74140320 single base substitution G A intron_variant LIRI-JP 17 74140774 74140774 single base substitution C A 3_prime_UTR_variant LIRI-JP 17 74140774 74140774 single base substitution C A downstream_gene_variant LIRI-JP 17 74140774 74140774 single base substitution C A exon_variant LIRI-JP 17 74143002 74143002 single base substitution G A intron_variant LIRI-JP 17 74143002 74143002 single base substitution G A upstream_gene_variant LIRI-JP 17 74143680 74143680 single base substitution G C intron_variant LIRI-JP 17 74143680 74143680 single base substitution G C upstream_gene_variant LIRI-JP 17 74144179 74144179 single base substitution C T intron_variant LIRI-JP 17 74144179 74144179 single base substitution C T upstream_gene_variant LIRI-JP 17 74144569 74144569 single base substitution C T intron_variant LIRI-JP 17 74144569 74144569 single base substitution C T upstream_gene_variant LIRI-JP 17 74146719 74146719 single base substitution A C downstream_gene_variant LIRI-JP 17 74146719 74146719 single base substitution A C intron_variant LIRI-JP 17 74151233 74151233 single base substitution A G intron_variant LIRI-JP 17 74151233 74151233 single base substitution A G upstream_gene_variant LIRI-JP 17 74153922 74153922 single base substitution T C downstream_gene_variant LIRI-JP 17 74153922 74153922 single base substitution T C intron_variant LIRI-JP 17 74153922 74153922 single base substitution T C upstream_gene_variant LIRI-JP 17 74155522 74155522 single base substitution A C downstream_gene_variant LIRI-JP 17 74155522 74155522 single base substitution A C missense_variant S400A 1198T>G LIRI-JP 17 74155522 74155522 single base substitution A C upstream_gene_variant LIRI-JP 17 74157875 74157875 single base substitution T C downstream_gene_variant LIRI-JP 17 74157875 74157875 single base substitution T C intron_variant LIRI-JP 17 74157875 74157875 single base substitution T C upstream_gene_variant LIRI-JP 17 74159113 74159115 deletion of <=200bp AAG - 3_prime_UTR_variant LIRI-JP 17 74159113 74159115 deletion of <=200bp AAG - intron_variant LIRI-JP 17 74159113 74159115 deletion of <=200bp AAG - upstream_gene_variant LIRI-JP 17 74159402 74159402 single base substitution T C 3_prime_UTR_variant LIRI-JP 17 74159402 74159402 single base substitution T C intron_variant LIRI-JP 17 74159402 74159402 single base substitution T C upstream_gene_variant LIRI-JP 17 74162493 74162493 single base substitution C A intron_variant LIRI-JP 17 74162493 74162493 single base substitution C A upstream_gene_variant LIRI-JP 17 74164851 74164851 single base substitution C T intron_variant LIRI-JP 17 74164851 74164851 single base substitution C T upstream_gene_variant LIRI-JP 17 74165155 74165155 single base substitution A G intron_variant LIRI-JP 17 74165155 74165155 single base substitution A G upstream_gene_variant LIRI-JP 17 74169307 74169307 single base substitution C T intron_variant LIRI-JP 17 74169938 74169938 single base substitution C T intron_variant LIRI-JP 17 74177666 74177666 single base substitution T G intron_variant LIRI-JP 17 74179027 74179027 single base substitution G T intron_variant LIRI-JP 17 74180824 74180824 single base substitution G A intron_variant LIRI-JP 17 74181603 74181603 single base substitution T C intron_variant LIRI-JP 17 74183806 74183806 single base substitution C T intron_variant LIRI-JP 17 74185671 74185671 single base substitution G T intron_variant LIRI-JP 17 74187424 74187424 single base substitution T C intron_variant LIRI-JP 17 74187880 74187880 single base substitution A T intron_variant LIRI-JP 17 74188916 74188916 single base substitution T C intron_variant LIRI-JP 17 74191616 74191616 single base substitution T C intron_variant LIRI-JP 17 74193731 74193731 single base substitution G A intron_variant LIRI-JP 17 74197467 74197467 single base substitution T C intron_variant LIRI-JP 17 74201106 74201106 single base substitution G T intron_variant LIRI-JP 17 74201311 74201311 single base substitution C A intron_variant LIRI-JP 17 74202635 74202635 single base substitution C A intron_variant LIRI-JP 17 74202904 74202904 single base substitution T C intron_variant LIRI-JP 17 74203026 74203026 single base substitution T C downstream_gene_variant LIRI-JP 17 74203026 74203026 single base substitution T C intron_variant LIRI-JP 17 74203638 74203638 single base substitution G T downstream_gene_variant LIRI-JP 17 74203638 74203638 single base substitution G T intron_variant LIRI-JP 17 74205088 74205088 deletion of <=200bp C - downstream_gene_variant LIRI-JP 17 74205088 74205088 deletion of <=200bp C - intron_variant LIRI-JP 17 74207884 74207884 single base substitution C T downstream_gene_variant LIRI-JP 17 74207884 74207884 single base substitution C T intron_variant LIRI-JP 17 74208493 74208493 single base substitution C T synonymous_variant L53L 159G>A LIRI-JP 17 74212804 74212804 single base substitution T G intron_variant LIRI-JP 17 74213733 74213733 single base substitution A G intron_variant LIRI-JP 17 74214946 74214946 single base substitution T C intron_variant LIRI-JP 17 74215893 74215893 single base substitution A G intron_variant LIRI-JP 17 74221670 74221670 single base substitution T A intron_variant LIRI-JP 17 74223402 74223402 single base substitution A G intron_variant LIRI-JP 17 74229490 74229490 single base substitution T A intron_variant LIRI-JP 17 74229655 74229655 single base substitution G T intron_variant LIRI-JP 17 74231517 74231517 single base substitution G C intron_variant LIRI-JP 17 74237102 74237102 single base substitution G T upstream_gene_variant LIRI-JP 17 74238605 74238605 single base substitution A G upstream_gene_variant LIRI-JP 17 74239394 74239394 single base substitution C G upstream_gene_variant LIRI-JP 17 74239734 74239734 single base substitution T C upstream_gene_variant LIRI-JP 17 74240519 74240519 single base substitution A G upstream_gene_variant LIRI-JP 17 74240975 74240975 single base substitution T A upstream_gene_variant LUSC-KR 17 74135105 74135105 single base substitution C T downstream_gene_variant LUSC-KR 17 74135738 74135738 single base substitution C G downstream_gene_variant LUSC-KR 17 74135770 74135770 single base substitution C G downstream_gene_variant LUSC-KR 17 74137418 74137418 single base substitution C T downstream_gene_variant LUSC-KR 17 74138202 74138202 single base substitution C T downstream_gene_variant LUSC-KR 17 74138281 74138281 single base substitution C T downstream_gene_variant LUSC-KR 17 74139018 74139018 single base substitution C G 3_prime_UTR_variant LUSC-KR 17 74139018 74139018 single base substitution C G downstream_gene_variant LUSC-KR 17 74139018 74139018 single base substitution C G intron_variant LUSC-KR 17 74139264 74139264 single base substitution G A 3_prime_UTR_variant LUSC-KR 17 74139264 74139264 single base substitution G A downstream_gene_variant LUSC-KR 17 74139264 74139264 single base substitution G A intron_variant LUSC-KR 17 74139694 74139694 single base substitution A G 3_prime_UTR_variant LUSC-KR 17 74139694 74139694 single base substitution A G downstream_gene_variant LUSC-KR 17 74139694 74139694 single base substitution A G intron_variant LUSC-KR 17 74141485 74141485 single base substitution A T intron_variant LUSC-KR 17 74141485 74141485 single base substitution A T upstream_gene_variant LUSC-KR 17 74142824 74142824 single base substitution C T intron_variant LUSC-KR 17 74142824 74142824 single base substitution C T upstream_gene_variant LUSC-KR 17 74146854 74146854 single base substitution T A downstream_gene_variant LUSC-KR 17 74146854 74146854 single base substitution T A intron_variant LUSC-KR 17 74152211 74152211 single base substitution C T intron_variant LUSC-KR 17 74152211 74152211 single base substitution C T upstream_gene_variant LUSC-KR 17 74155412 74155412 single base substitution T A downstream_gene_variant LUSC-KR 17 74155412 74155412 single base substitution T A splice_region_variant LUSC-KR 17 74155412 74155412 single base substitution T A upstream_gene_variant LUSC-KR 17 74159340 74159340 single base substitution C A 3_prime_UTR_variant LUSC-KR 17 74159340 74159340 single base substitution C A intron_variant LUSC-KR 17 74159340 74159340 single base substitution C A upstream_gene_variant LUSC-KR 17 74168107 74168107 single base substitution T A intron_variant LUSC-KR 17 74168107 74168107 single base substitution T A upstream_gene_variant LUSC-KR 17 74168316 74168316 single base substitution G T intron_variant LUSC-KR 17 74168688 74168688 single base substitution C A intron_variant LUSC-KR 17 74173372 74173372 single base substitution C A intron_variant LUSC-KR 17 74175193 74175193 single base substitution G T intron_variant LUSC-KR 17 74177673 74177673 single base substitution T C intron_variant LUSC-KR 17 74184982 74184982 single base substitution G T intron_variant LUSC-KR 17 74188941 74188941 single base substitution G T intron_variant LUSC-KR 17 74190720 74190720 single base substitution C T intron_variant LUSC-KR 17 74195294 74195294 single base substitution G T intron_variant LUSC-KR 17 74200878 74200878 single base substitution G T intron_variant LUSC-KR 17 74203327 74203327 single base substitution C A downstream_gene_variant LUSC-KR 17 74203327 74203327 single base substitution C A intron_variant LUSC-KR 17 74206180 74206180 single base substitution G T downstream_gene_variant LUSC-KR 17 74206180 74206180 single base substitution G T intron_variant LUSC-KR 17 74206498 74206498 single base substitution C T downstream_gene_variant LUSC-KR 17 74206498 74206498 single base substitution C T intron_variant LUSC-KR 17 74206682 74206682 single base substitution A G downstream_gene_variant LUSC-KR 17 74206682 74206682 single base substitution A G intron_variant LUSC-KR 17 74210145 74210145 single base substitution T G intron_variant LUSC-KR 17 74210557 74210557 single base substitution C T intron_variant LUSC-KR 17 74217524 74217524 single base substitution A G intron_variant LUSC-KR 17 74223214 74223214 single base substitution G T intron_variant LUSC-KR 17 74226971 74226971 single base substitution G C intron_variant LUSC-KR 17 74227105 74227105 single base substitution G C intron_variant LUSC-KR 17 74228267 74228267 single base substitution C A intron_variant LUSC-KR 17 74231592 74231592 single base substitution T G intron_variant LUSC-KR 17 74234392 74234392 single base substitution T C intron_variant LUSC-KR 17 74238742 74238742 single base substitution C A upstream_gene_variant LUSC-US 17 74148493 74148493 single base substitution C G downstream_gene_variant LUSC-US 17 74148493 74148493 single base substitution C G exon_variant LUSC-US 17 74148493 74148493 single base substitution C G missense_variant D129H 385G>C LUSC-US 17 74148493 74148493 single base substitution C G missense_variant D600H 1798G>C LUSC-US 17 74148493 74148493 single base substitution C G missense_variant D622H 1864G>C LUSC-US 17 74150388 74150388 single base substitution C T exon_variant LUSC-US 17 74150388 74150388 single base substitution C T missense_variant E103K 307G>A LUSC-US 17 74150388 74150388 single base substitution C T missense_variant E574K 1720G>A LUSC-US 17 74150388 74150388 single base substitution C T missense_variant E596K 1786G>A LUSC-US 17 74150388 74150388 single base substitution C T upstream_gene_variant LUSC-US 17 74154524 74154524 single base substitution C A downstream_gene_variant LUSC-US 17 74154524 74154524 single base substitution C A exon_variant LUSC-US 17 74154524 74154524 single base substitution C A stop_gained E455* 1363G>T LUSC-US 17 74154524 74154524 single base substitution C A upstream_gene_variant LUSC-US 17 74157722 74157722 single base substitution C T downstream_gene_variant LUSC-US 17 74157722 74157722 single base substitution C T exon_variant LUSC-US 17 74157722 74157722 single base substitution C T missense_variant R320Q 959G>A LUSC-US 17 74157722 74157722 single base substitution C T upstream_gene_variant LUSC-US 17 74163102 74163102 single base substitution C A missense_variant W183C 549G>T LUSC-US 17 74163102 74163102 single base substitution C A missense_variant W20C 60G>T LUSC-US 17 74163102 74163102 single base substitution C A upstream_gene_variant LUSC-US 17 74163754 74163754 single base substitution C T missense_variant E141K 421G>A LUSC-US 17 74163754 74163754 single base substitution C T upstream_gene_variant MALY-DE 17 74135785 74135786 deletion of <=200bp TC - downstream_gene_variant MALY-DE 17 74148453 74148453 single base substitution G A downstream_gene_variant MALY-DE 17 74148453 74148453 single base substitution G A exon_variant MALY-DE 17 74148453 74148453 single base substitution G A missense_variant S142F 425C>T MALY-DE 17 74148453 74148453 single base substitution G A missense_variant S613F 1838C>T MALY-DE 17 74148453 74148453 single base substitution G A missense_variant S635F 1904C>T MALY-DE 17 74155919 74155919 deletion of <=200bp A - downstream_gene_variant MALY-DE 17 74155919 74155919 deletion of <=200bp A - intron_variant MALY-DE 17 74155919 74155919 deletion of <=200bp A - upstream_gene_variant MALY-DE 17 74157061 74157061 single base substitution T G downstream_gene_variant MALY-DE 17 74157061 74157061 single base substitution T G intron_variant MALY-DE 17 74157061 74157061 single base substitution T G upstream_gene_variant MALY-DE 17 74161225 74161225 single base substitution G A intron_variant MALY-DE 17 74161225 74161225 single base substitution G A upstream_gene_variant MALY-DE 17 74162307 74162307 single base substitution C T intron_variant MALY-DE 17 74162307 74162307 single base substitution C T upstream_gene_variant MALY-DE 17 74168716 74168716 single base substitution G C intron_variant MALY-DE 17 74168733 74168734 deletion of <=200bp AT - intron_variant MALY-DE 17 74171197 74171197 single base substitution G A intron_variant MALY-DE 17 74191516 74191516 deletion of <=200bp A - intron_variant MALY-DE 17 74201966 74201966 single base substitution C T intron_variant MALY-DE 17 74206625 74206625 single base substitution C T downstream_gene_variant MALY-DE 17 74206625 74206625 single base substitution C T intron_variant MALY-DE 17 74207730 74207730 single base substitution A G downstream_gene_variant MALY-DE 17 74207730 74207730 single base substitution A G intron_variant MALY-DE 17 74211856 74211856 single base substitution A G intron_variant MALY-DE 17 74214576 74214576 single base substitution G A intron_variant MALY-DE 17 74216319 74216319 single base substitution C T intron_variant MELA-AU 17 74133864 74133864 single base substitution G A downstream_gene_variant MELA-AU 17 74134138 74134138 single base substitution C T downstream_gene_variant MELA-AU 17 74134425 74134425 single base substitution C T downstream_gene_variant MELA-AU 17 74134505 74134505 single base substitution C T downstream_gene_variant MELA-AU 17 74134753 74134754 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 74135142 74135142 single base substitution G A downstream_gene_variant MELA-AU 17 74135781 74135781 single base substitution C T downstream_gene_variant MELA-AU 17 74137169 74137169 single base substitution G A downstream_gene_variant MELA-AU 17 74137275 74137275 single base substitution C T downstream_gene_variant MELA-AU 17 74137417 74137417 single base substitution C T downstream_gene_variant MELA-AU 17 74137421 74137421 single base substitution C T downstream_gene_variant MELA-AU 17 74138349 74138349 single base substitution G A downstream_gene_variant MELA-AU 17 74138772 74138772 single base substitution C T 3_prime_UTR_variant MELA-AU 17 74138772 74138772 single base substitution C T downstream_gene_variant MELA-AU 17 74138772 74138772 single base substitution C T exon_variant MELA-AU 17 74139193 74139193 deletion of <=200bp G - 3_prime_UTR_variant MELA-AU 17 74139193 74139193 deletion of <=200bp G - downstream_gene_variant MELA-AU 17 74139193 74139193 deletion of <=200bp G - intron_variant MELA-AU 17 74139196 74139196 single base substitution G A 3_prime_UTR_variant MELA-AU 17 74139196 74139196 single base substitution G A downstream_gene_variant MELA-AU 17 74139196 74139196 single base substitution G A intron_variant MELA-AU 17 74139200 74139200 single base substitution G A 3_prime_UTR_variant MELA-AU 17 74139200 74139200 single base substitution G A downstream_gene_variant MELA-AU 17 74139200 74139200 single base substitution G A intron_variant MELA-AU 17 74139281 74139281 single base substitution C T 3_prime_UTR_variant MELA-AU 17 74139281 74139281 single base substitution C T downstream_gene_variant MELA-AU 17 74139281 74139281 single base substitution C T intron_variant MELA-AU 17 74139311 74139311 single base substitution G A 3_prime_UTR_variant MELA-AU 17 74139311 74139311 single base substitution G A downstream_gene_variant MELA-AU 17 74139311 74139311 single base substitution G A intron_variant MELA-AU 17 74139461 74139461 single base substitution G A 3_prime_UTR_variant MELA-AU 17 74139461 74139461 single base substitution G A downstream_gene_variant MELA-AU 17 74139461 74139461 single base substitution G A intron_variant MELA-AU 17 74139533 74139533 single base substitution G A 3_prime_UTR_variant MELA-AU 17 74139533 74139533 single base substitution G A downstream_gene_variant MELA-AU 17 74139533 74139533 single base substitution G A intron_variant MELA-AU 17 74140070 74140070 single base substitution G A 3_prime_UTR_variant MELA-AU 17 74140070 74140070 single base substitution G A downstream_gene_variant MELA-AU 17 74140070 74140070 single base substitution G A intron_variant MELA-AU 17 74140187 74140187 single base substitution G A 3_prime_UTR_variant MELA-AU 17 74140187 74140187 single base substitution G A downstream_gene_variant MELA-AU 17 74140187 74140187 single base substitution G A intron_variant MELA-AU 17 74140247 74140247 single base substitution C T 3_prime_UTR_variant MELA-AU 17 74140247 74140247 single base substitution C T downstream_gene_variant MELA-AU 17 74140247 74140247 single base substitution C T intron_variant MELA-AU 17 74140381 74140381 single base substitution G A 3_prime_UTR_variant MELA-AU 17 74140381 74140381 single base substitution G A downstream_gene_variant MELA-AU 17 74140381 74140381 single base substitution G A intron_variant MELA-AU 17 74140831 74140831 single base substitution G A 3_prime_UTR_variant MELA-AU 17 74140831 74140831 single base substitution G A downstream_gene_variant MELA-AU 17 74140831 74140831 single base substitution G A upstream_gene_variant MELA-AU 17 74141066 74141066 single base substitution G A 3_prime_UTR_variant MELA-AU 17 74141066 74141066 single base substitution G A downstream_gene_variant MELA-AU 17 74141066 74141066 single base substitution G A upstream_gene_variant MELA-AU 17 74141546 74141546 single base substitution C T intron_variant MELA-AU 17 74141546 74141546 single base substitution C T upstream_gene_variant MELA-AU 17 74141708 74141708 single base substitution C G intron_variant MELA-AU 17 74141708 74141708 single base substitution C G upstream_gene_variant MELA-AU 17 74142205 74142205 single base substitution C T intron_variant MELA-AU 17 74142205 74142205 single base substitution C T upstream_gene_variant MELA-AU 17 74142614 74142615 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 74142614 74142615 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 74143074 74143074 single base substitution A G intron_variant MELA-AU 17 74143074 74143074 single base substitution A G upstream_gene_variant MELA-AU 17 74143472 74143472 single base substitution A C intron_variant MELA-AU 17 74143472 74143472 single base substitution A C upstream_gene_variant MELA-AU 17 74144281 74144281 single base substitution G A intron_variant MELA-AU 17 74144281 74144281 single base substitution G A upstream_gene_variant MELA-AU 17 74144630 74144630 single base substitution G A intron_variant MELA-AU 17 74144630 74144630 single base substitution G A upstream_gene_variant MELA-AU 17 74144746 74144746 single base substitution G A intron_variant MELA-AU 17 74144746 74144746 single base substitution G A upstream_gene_variant MELA-AU 17 74145216 74145216 single base substitution G A intron_variant MELA-AU 17 74145216 74145216 single base substitution G A upstream_gene_variant MELA-AU 17 74145402 74145402 single base substitution G A downstream_gene_variant MELA-AU 17 74145402 74145402 single base substitution G A intron_variant MELA-AU 17 74145402 74145402 single base substitution G A upstream_gene_variant MELA-AU 17 74145695 74145695 single base substitution G A downstream_gene_variant MELA-AU 17 74145695 74145695 single base substitution G A intron_variant MELA-AU 17 74145695 74145695 single base substitution G A upstream_gene_variant MELA-AU 17 74146203 74146203 single base substitution C T downstream_gene_variant MELA-AU 17 74146203 74146203 single base substitution C T intron_variant MELA-AU 17 74147400 74147400 single base substitution C T downstream_gene_variant MELA-AU 17 74147400 74147400 single base substitution C T intron_variant MELA-AU 17 74147606 74147606 single base substitution G A downstream_gene_variant MELA-AU 17 74147606 74147606 single base substitution G A intron_variant MELA-AU 17 74147943 74147943 single base substitution G A downstream_gene_variant MELA-AU 17 74147943 74147943 single base substitution G A intron_variant MELA-AU 17 74148070 74148070 single base substitution C T downstream_gene_variant MELA-AU 17 74148070 74148070 single base substitution C T intron_variant MELA-AU 17 74148627 74148627 single base substitution G A downstream_gene_variant MELA-AU 17 74148627 74148627 single base substitution G A exon_variant MELA-AU 17 74148627 74148627 single base substitution G A intron_variant MELA-AU 17 74148794 74148794 single base substitution A C downstream_gene_variant MELA-AU 17 74148794 74148794 single base substitution A C intron_variant MELA-AU 17 74148794 74148794 single base substitution A C upstream_gene_variant MELA-AU 17 74149073 74149073 single base substitution C T downstream_gene_variant MELA-AU 17 74149073 74149073 single base substitution C T intron_variant MELA-AU 17 74149073 74149073 single base substitution C T upstream_gene_variant MELA-AU 17 74149151 74149151 single base substitution G A downstream_gene_variant MELA-AU 17 74149151 74149151 single base substitution G A intron_variant MELA-AU 17 74149151 74149151 single base substitution G A upstream_gene_variant MELA-AU 17 74149240 74149240 single base substitution G A downstream_gene_variant MELA-AU 17 74149240 74149240 single base substitution G A intron_variant MELA-AU 17 74149240 74149240 single base substitution G A upstream_gene_variant MELA-AU 17 74149643 74149643 single base substitution T C downstream_gene_variant MELA-AU 17 74149643 74149643 single base substitution T C intron_variant MELA-AU 17 74149643 74149643 single base substitution T C upstream_gene_variant MELA-AU 17 74150069 74150069 single base substitution G A downstream_gene_variant MELA-AU 17 74150069 74150069 single base substitution G A intron_variant MELA-AU 17 74150069 74150069 single base substitution G A upstream_gene_variant MELA-AU 17 74150231 74150231 single base substitution G A downstream_gene_variant MELA-AU 17 74150231 74150231 single base substitution G A intron_variant MELA-AU 17 74150231 74150231 single base substitution G A upstream_gene_variant MELA-AU 17 74150802 74150802 single base substitution G A intron_variant MELA-AU 17 74150802 74150802 single base substitution G A upstream_gene_variant MELA-AU 17 74151227 74151227 single base substitution T A intron_variant MELA-AU 17 74151227 74151227 single base substitution T A upstream_gene_variant MELA-AU 17 74151490 74151491 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 74151490 74151491 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 74151660 74151660 single base substitution G A exon_variant MELA-AU 17 74151660 74151660 single base substitution G A missense_variant P561S 1681C>T MELA-AU 17 74151660 74151660 single base substitution G A missense_variant P68S 202C>T MELA-AU 17 74151660 74151660 single base substitution G A upstream_gene_variant MELA-AU 17 74151703 74151703 single base substitution C T exon_variant MELA-AU 17 74151703 74151703 single base substitution C T synonymous_variant E53E 159G>A MELA-AU 17 74151703 74151703 single base substitution C T synonymous_variant E546E 1638G>A MELA-AU 17 74151703 74151703 single base substitution C T upstream_gene_variant MELA-AU 17 74151769 74151769 single base substitution G A exon_variant MELA-AU 17 74151769 74151769 single base substitution G A synonymous_variant S31S 93C>T MELA-AU 17 74151769 74151769 single base substitution G A synonymous_variant S524S 1572C>T MELA-AU 17 74151769 74151769 single base substitution G A upstream_gene_variant MELA-AU 17 74151915 74151915 single base substitution G A intron_variant MELA-AU 17 74151915 74151915 single base substitution G A upstream_gene_variant MELA-AU 17 74151952 74151952 single base substitution G A intron_variant MELA-AU 17 74151952 74151952 single base substitution G A upstream_gene_variant MELA-AU 17 74152282 74152282 single base substitution C T intron_variant MELA-AU 17 74152282 74152282 single base substitution C T upstream_gene_variant MELA-AU 17 74152302 74152302 single base substitution G A exon_variant MELA-AU 17 74152302 74152302 single base substitution G A missense_variant S12F 35C>T MELA-AU 17 74152302 74152302 single base substitution G A missense_variant S505F 1514C>T MELA-AU 17 74152302 74152302 single base substitution G A upstream_gene_variant MELA-AU 17 74152772 74152772 single base substitution G A downstream_gene_variant MELA-AU 17 74152772 74152772 single base substitution G A intron_variant MELA-AU 17 74152772 74152772 single base substitution G A upstream_gene_variant MELA-AU 17 74153269 74153269 single base substitution G A downstream_gene_variant MELA-AU 17 74153269 74153269 single base substitution G A intron_variant MELA-AU 17 74153269 74153269 single base substitution G A upstream_gene_variant MELA-AU 17 74153283 74153283 single base substitution G C downstream_gene_variant MELA-AU 17 74153283 74153283 single base substitution G C intron_variant MELA-AU 17 74153283 74153283 single base substitution G C upstream_gene_variant MELA-AU 17 74154398 74154398 single base substitution G A downstream_gene_variant MELA-AU 17 74154398 74154398 single base substitution G A intron_variant MELA-AU 17 74154398 74154398 single base substitution G A upstream_gene_variant MELA-AU 17 74154583 74154583 single base substitution C T downstream_gene_variant MELA-AU 17 74154583 74154583 single base substitution C T exon_variant MELA-AU 17 74154583 74154583 single base substitution C T splice_acceptor_variant MELA-AU 17 74154583 74154583 single base substitution C T upstream_gene_variant MELA-AU 17 74154659 74154659 single base substitution G A downstream_gene_variant MELA-AU 17 74154659 74154659 single base substitution G A intron_variant MELA-AU 17 74154659 74154659 single base substitution G A upstream_gene_variant MELA-AU 17 74154713 74154713 single base substitution G A downstream_gene_variant MELA-AU 17 74154713 74154713 single base substitution G A intron_variant MELA-AU 17 74154713 74154713 single base substitution G A upstream_gene_variant MELA-AU 17 74154801 74154801 single base substitution G A downstream_gene_variant MELA-AU 17 74154801 74154801 single base substitution G A intron_variant MELA-AU 17 74154801 74154801 single base substitution G A upstream_gene_variant MELA-AU 17 74154886 74154886 single base substitution C T downstream_gene_variant MELA-AU 17 74154886 74154886 single base substitution C T intron_variant MELA-AU 17 74154886 74154886 single base substitution C T upstream_gene_variant MELA-AU 17 74155028 74155028 single base substitution C T downstream_gene_variant MELA-AU 17 74155028 74155028 single base substitution C T intron_variant MELA-AU 17 74155028 74155028 single base substitution C T upstream_gene_variant MELA-AU 17 74155087 74155087 single base substitution C T downstream_gene_variant MELA-AU 17 74155087 74155087 single base substitution C T intron_variant MELA-AU 17 74155087 74155087 single base substitution C T upstream_gene_variant MELA-AU 17 74155312 74155312 single base substitution G A downstream_gene_variant MELA-AU 17 74155312 74155312 single base substitution G A intron_variant MELA-AU 17 74155312 74155312 single base substitution G A upstream_gene_variant MELA-AU 17 74155359 74155359 single base substitution G A downstream_gene_variant MELA-AU 17 74155359 74155359 single base substitution G A intron_variant MELA-AU 17 74155359 74155359 single base substitution G A upstream_gene_variant MELA-AU 17 74155525 74155525 single base substitution G A downstream_gene_variant MELA-AU 17 74155525 74155525 single base substitution G A missense_variant P399S 1195C>T MELA-AU 17 74155525 74155525 single base substitution G A upstream_gene_variant MELA-AU 17 74155585 74155585 single base substitution G A downstream_gene_variant MELA-AU 17 74155585 74155585 single base substitution G A missense_variant P379S 1135C>T MELA-AU 17 74155585 74155585 single base substitution G A upstream_gene_variant MELA-AU 17 74155587 74155587 single base substitution G T downstream_gene_variant MELA-AU 17 74155587 74155587 single base substitution G T missense_variant T378N 1133C>A MELA-AU 17 74155587 74155587 single base substitution G T upstream_gene_variant MELA-AU 17 74156676 74156676 single base substitution C T downstream_gene_variant MELA-AU 17 74156676 74156676 single base substitution C T intron_variant MELA-AU 17 74156676 74156676 single base substitution C T upstream_gene_variant MELA-AU 17 74157039 74157040 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 74157039 74157040 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 74157039 74157040 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 74157903 74157903 single base substitution C T downstream_gene_variant MELA-AU 17 74157903 74157903 single base substitution C T intron_variant MELA-AU 17 74157903 74157903 single base substitution C T upstream_gene_variant MELA-AU 17 74158188 74158188 single base substitution G A downstream_gene_variant MELA-AU 17 74158188 74158188 single base substitution G A exon_variant MELA-AU 17 74158188 74158188 single base substitution G A intron_variant MELA-AU 17 74158188 74158188 single base substitution G A upstream_gene_variant MELA-AU 17 74158211 74158211 single base substitution G A downstream_gene_variant MELA-AU 17 74158211 74158211 single base substitution G A exon_variant MELA-AU 17 74158211 74158211 single base substitution G A intron_variant MELA-AU 17 74158211 74158211 single base substitution G A upstream_gene_variant MELA-AU 17 74158428 74158428 single base substitution C T downstream_gene_variant MELA-AU 17 74158428 74158428 single base substitution C T intron_variant MELA-AU 17 74158428 74158428 single base substitution C T upstream_gene_variant MELA-AU 17 74158495 74158495 single base substitution G A downstream_gene_variant MELA-AU 17 74158495 74158495 single base substitution G A intron_variant MELA-AU 17 74158495 74158495 single base substitution G A upstream_gene_variant MELA-AU 17 74159018 74159018 single base substitution G A 3_prime_UTR_variant MELA-AU 17 74159018 74159018 single base substitution G A intron_variant MELA-AU 17 74159018 74159018 single base substitution G A upstream_gene_variant MELA-AU 17 74159097 74159097 single base substitution G A 3_prime_UTR_variant MELA-AU 17 74159097 74159097 single base substitution G A intron_variant MELA-AU 17 74159097 74159097 single base substitution G A upstream_gene_variant MELA-AU 17 74159157 74159157 single base substitution G A 3_prime_UTR_variant MELA-AU 17 74159157 74159157 single base substitution G A intron_variant MELA-AU 17 74159157 74159157 single base substitution G A upstream_gene_variant MELA-AU 17 74159187 74159187 single base substitution G A 3_prime_UTR_variant MELA-AU 17 74159187 74159187 single base substitution G A intron_variant MELA-AU 17 74159187 74159187 single base substitution G A upstream_gene_variant MELA-AU 17 74159937 74159937 single base substitution G A 3_prime_UTR_variant MELA-AU 17 74159937 74159937 single base substitution G A intron_variant MELA-AU 17 74159937 74159937 single base substitution G A upstream_gene_variant MELA-AU 17 74160069 74160069 single base substitution G A 3_prime_UTR_variant MELA-AU 17 74160069 74160069 single base substitution G A intron_variant MELA-AU 17 74160069 74160069 single base substitution G A upstream_gene_variant MELA-AU 17 74160884 74160884 single base substitution G A intron_variant MELA-AU 17 74160884 74160884 single base substitution G A splice_region_variant MELA-AU 17 74160884 74160884 single base substitution G A upstream_gene_variant MELA-AU 17 74161210 74161210 single base substitution G A intron_variant MELA-AU 17 74161210 74161210 single base substitution G A upstream_gene_variant MELA-AU 17 74162894 74162894 single base substitution G A intron_variant MELA-AU 17 74162894 74162894 single base substitution G A upstream_gene_variant MELA-AU 17 74163312 74163312 deletion of <=200bp G - intron_variant MELA-AU 17 74163312 74163312 deletion of <=200bp G - upstream_gene_variant MELA-AU 17 74163686 74163686 single base substitution G C intron_variant MELA-AU 17 74163686 74163686 single base substitution G C upstream_gene_variant MELA-AU 17 74165016 74165016 single base substitution G A intron_variant MELA-AU 17 74165016 74165016 single base substitution G A upstream_gene_variant MELA-AU 17 74165166 74165166 single base substitution C T intron_variant MELA-AU 17 74165166 74165166 single base substitution C T upstream_gene_variant MELA-AU 17 74165372 74165372 single base substitution T A intron_variant MELA-AU 17 74165372 74165372 single base substitution T A upstream_gene_variant MELA-AU 17 74165469 74165469 single base substitution A T intron_variant MELA-AU 17 74165469 74165469 single base substitution A T upstream_gene_variant MELA-AU 17 74166225 74166225 single base substitution C T intron_variant MELA-AU 17 74166225 74166225 single base substitution C T upstream_gene_variant MELA-AU 17 74166404 74166405 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 74166404 74166405 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 74166666 74166666 single base substitution G A intron_variant MELA-AU 17 74166666 74166666 single base substitution G A upstream_gene_variant MELA-AU 17 74167081 74167081 single base substitution C T intron_variant MELA-AU 17 74167081 74167081 single base substitution C T upstream_gene_variant MELA-AU 17 74167339 74167340 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 74167339 74167340 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 74167366 74167366 single base substitution T G intron_variant MELA-AU 17 74167366 74167366 single base substitution T G upstream_gene_variant MELA-AU 17 74167375 74167375 single base substitution T A intron_variant MELA-AU 17 74167375 74167375 single base substitution T A upstream_gene_variant MELA-AU 17 74167379 74167379 single base substitution C T intron_variant MELA-AU 17 74167379 74167379 single base substitution C T upstream_gene_variant MELA-AU 17 74167782 74167782 single base substitution C A intron_variant MELA-AU 17 74167782 74167782 single base substitution C A upstream_gene_variant MELA-AU 17 74167783 74167783 single base substitution C T intron_variant MELA-AU 17 74167783 74167783 single base substitution C T upstream_gene_variant MELA-AU 17 74168037 74168037 single base substitution G A intron_variant MELA-AU 17 74168037 74168037 single base substitution G A upstream_gene_variant MELA-AU 17 74168180 74168180 single base substitution C T intron_variant MELA-AU 17 74168396 74168396 single base substitution G A intron_variant MELA-AU 17 74169066 74169066 single base substitution G A intron_variant MELA-AU 17 74169262 74169262 single base substitution G A intron_variant MELA-AU 17 74169286 74169286 single base substitution G A intron_variant MELA-AU 17 74169412 74169412 single base substitution G A intron_variant MELA-AU 17 74169709 74169709 single base substitution G A intron_variant MELA-AU 17 74169802 74169802 single base substitution C T missense_variant D93N 277G>A MELA-AU 17 74169868 74169868 single base substitution G A missense_variant P71S 211C>T MELA-AU 17 74170106 74170106 single base substitution C T intron_variant MELA-AU 17 74170296 74170296 single base substitution C G intron_variant MELA-AU 17 74170763 74170763 single base substitution G A intron_variant MELA-AU 17 74171648 74171648 single base substitution G A intron_variant MELA-AU 17 74171765 74171765 single base substitution C T intron_variant MELA-AU 17 74171793 74171793 single base substitution T A intron_variant MELA-AU 17 74172324 74172324 single base substitution G A intron_variant MELA-AU 17 74172362 74172362 single base substitution G C intron_variant MELA-AU 17 74172462 74172462 single base substitution G A intron_variant MELA-AU 17 74172636 74172636 single base substitution G A intron_variant MELA-AU 17 74172699 74172699 single base substitution G A intron_variant MELA-AU 17 74172736 74172737 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 74172810 74172810 single base substitution G T intron_variant MELA-AU 17 74173267 74173267 single base substitution G A intron_variant MELA-AU 17 74173343 74173343 single base substitution G C intron_variant MELA-AU 17 74173376 74173376 single base substitution G A intron_variant MELA-AU 17 74173706 74173706 single base substitution G A intron_variant MELA-AU 17 74174224 74174224 single base substitution C T intron_variant MELA-AU 17 74174535 74174536 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 74174697 74174697 single base substitution A G intron_variant MELA-AU 17 74174733 74174733 single base substitution C T intron_variant MELA-AU 17 74174884 74174884 single base substitution G A intron_variant MELA-AU 17 74175595 74175595 single base substitution G A intron_variant MELA-AU 17 74175858 74175858 single base substitution C T intron_variant MELA-AU 17 74176690 74176690 single base substitution G A intron_variant MELA-AU 17 74176767 74176767 single base substitution A C intron_variant MELA-AU 17 74177282 74177282 single base substitution G A intron_variant MELA-AU 17 74177556 74177556 single base substitution G A intron_variant MELA-AU 17 74177713 74177713 single base substitution G A intron_variant MELA-AU 17 74178012 74178012 single base substitution A G intron_variant MELA-AU 17 74178075 74178076 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 74178288 74178288 single base substitution G C intron_variant MELA-AU 17 74179238 74179238 single base substitution G A intron_variant MELA-AU 17 74179710 74179710 single base substitution T A intron_variant MELA-AU 17 74180369 74180369 single base substitution C A intron_variant MELA-AU 17 74180757 74180757 single base substitution G A intron_variant MELA-AU 17 74181311 74181311 single base substitution C T intron_variant MELA-AU 17 74182124 74182124 single base substitution G A intron_variant MELA-AU 17 74182606 74182606 single base substitution G A intron_variant MELA-AU 17 74182693 74182693 single base substitution G A intron_variant MELA-AU 17 74183070 74183070 single base substitution A G intron_variant MELA-AU 17 74183249 74183249 single base substitution G A intron_variant MELA-AU 17 74183260 74183260 single base substitution T C intron_variant MELA-AU 17 74183566 74183566 single base substitution G A intron_variant MELA-AU 17 74183800 74183800 single base substitution G A intron_variant MELA-AU 17 74184216 74184216 single base substitution A C intron_variant MELA-AU 17 74184232 74184232 single base substitution G A intron_variant MELA-AU 17 74184274 74184274 single base substitution C T intron_variant MELA-AU 17 74184463 74184463 single base substitution T C intron_variant MELA-AU 17 74184878 74184878 single base substitution G A intron_variant MELA-AU 17 74185468 74185468 single base substitution C T intron_variant MELA-AU 17 74185720 74185720 single base substitution G A intron_variant MELA-AU 17 74185834 74185834 single base substitution G A intron_variant MELA-AU 17 74185916 74185916 single base substitution C T intron_variant MELA-AU 17 74186057 74186057 single base substitution G A intron_variant MELA-AU 17 74186292 74186292 single base substitution G A intron_variant MELA-AU 17 74186611 74186611 single base substitution G A intron_variant MELA-AU 17 74187127 74187127 single base substitution G A intron_variant MELA-AU 17 74187361 74187361 single base substitution G A intron_variant MELA-AU 17 74187852 74187852 single base substitution C G intron_variant MELA-AU 17 74187889 74187889 single base substitution C T intron_variant MELA-AU 17 74187995 74187995 single base substitution C T intron_variant MELA-AU 17 74188086 74188086 single base substitution C G intron_variant MELA-AU 17 74188088 74188088 single base substitution C T intron_variant MELA-AU 17 74188120 74188120 single base substitution C A intron_variant MELA-AU 17 74188213 74188213 single base substitution C T intron_variant MELA-AU 17 74188237 74188237 single base substitution G A intron_variant MELA-AU 17 74188588 74188588 single base substitution T C intron_variant MELA-AU 17 74189145 74189145 single base substitution C T intron_variant MELA-AU 17 74189266 74189266 single base substitution C A intron_variant MELA-AU 17 74189376 74189376 single base substitution C G intron_variant MELA-AU 17 74189486 74189486 single base substitution C G intron_variant MELA-AU 17 74189503 74189503 single base substitution C G intron_variant MELA-AU 17 74189705 74189705 single base substitution G A intron_variant MELA-AU 17 74189833 74189833 single base substitution G A intron_variant MELA-AU 17 74189994 74189994 single base substitution C T intron_variant MELA-AU 17 74190011 74190011 single base substitution G A intron_variant MELA-AU 17 74190018 74190018 single base substitution G A intron_variant MELA-AU 17 74190096 74190096 single base substitution C T intron_variant MELA-AU 17 74190301 74190301 single base substitution A G intron_variant MELA-AU 17 74190464 74190464 single base substitution A T intron_variant MELA-AU 17 74190498 74190498 single base substitution C T intron_variant MELA-AU 17 74190517 74190517 single base substitution G A intron_variant MELA-AU 17 74190674 74190674 single base substitution C T intron_variant MELA-AU 17 74190857 74190857 single base substitution G A intron_variant MELA-AU 17 74191127 74191127 single base substitution G A intron_variant MELA-AU 17 74191771 74191771 single base substitution G A intron_variant MELA-AU 17 74192380 74192380 single base substitution C T intron_variant MELA-AU 17 74192498 74192498 single base substitution C A intron_variant MELA-AU 17 74192914 74192914 single base substitution A C intron_variant MELA-AU 17 74193326 74193326 single base substitution C G intron_variant MELA-AU 17 74193623 74193623 single base substitution C T intron_variant MELA-AU 17 74193633 74193634 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 17 74193742 74193742 single base substitution C A intron_variant MELA-AU 17 74193760 74193760 single base substitution C A intron_variant MELA-AU 17 74193836 74193836 single base substitution C G intron_variant MELA-AU 17 74193879 74193879 single base substitution C T intron_variant MELA-AU 17 74193910 74193910 single base substitution C T intron_variant MELA-AU 17 74194150 74194150 single base substitution C A intron_variant MELA-AU 17 74194155 74194155 single base substitution C G intron_variant MELA-AU 17 74194259 74194259 single base substitution G A intron_variant MELA-AU 17 74194343 74194343 single base substitution G A intron_variant MELA-AU 17 74194411 74194411 single base substitution C G intron_variant MELA-AU 17 74194574 74194574 single base substitution C A intron_variant MELA-AU 17 74194607 74194607 single base substitution C A intron_variant MELA-AU 17 74194628 74194628 single base substitution C T intron_variant MELA-AU 17 74194929 74194929 single base substitution C T intron_variant MELA-AU 17 74195090 74195090 single base substitution G A intron_variant MELA-AU 17 74195105 74195105 single base substitution G A intron_variant MELA-AU 17 74195936 74195936 single base substitution T C intron_variant MELA-AU 17 74196101 74196101 single base substitution G A intron_variant MELA-AU 17 74196365 74196365 single base substitution C T intron_variant MELA-AU 17 74196417 74196417 single base substitution C G intron_variant MELA-AU 17 74196472 74196472 single base substitution C T intron_variant MELA-AU 17 74196596 74196596 single base substitution C G intron_variant MELA-AU 17 74196657 74196657 single base substitution G A intron_variant MELA-AU 17 74196758 74196758 single base substitution G A intron_variant MELA-AU 17 74196768 74196768 single base substitution G A intron_variant MELA-AU 17 74197143 74197143 single base substitution C T intron_variant MELA-AU 17 74197190 74197190 single base substitution C T intron_variant MELA-AU 17 74197194 74197194 single base substitution C G intron_variant MELA-AU 17 74197236 74197236 single base substitution G A intron_variant MELA-AU 17 74197340 74197340 single base substitution G A intron_variant MELA-AU 17 74197642 74197642 single base substitution C T intron_variant MELA-AU 17 74198193 74198193 insertion of <=200bp - TC intron_variant MELA-AU 17 74198493 74198493 single base substitution T G intron_variant MELA-AU 17 74198893 74198893 single base substitution G A intron_variant MELA-AU 17 74199042 74199042 single base substitution G A intron_variant MELA-AU 17 74199422 74199422 single base substitution G A intron_variant MELA-AU 17 74199423 74199423 single base substitution G A intron_variant MELA-AU 17 74200354 74200354 single base substitution C A intron_variant MELA-AU 17 74200472 74200472 single base substitution G A intron_variant MELA-AU 17 74200501 74200502 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 74201126 74201126 single base substitution C T intron_variant MELA-AU 17 74201354 74201354 single base substitution G A intron_variant MELA-AU 17 74201492 74201492 single base substitution G A intron_variant MELA-AU 17 74201788 74201788 single base substitution G A intron_variant MELA-AU 17 74201799 74201799 single base substitution C T intron_variant MELA-AU 17 74201805 74201808 deletion of <=200bp TAAA - intron_variant MELA-AU 17 74201805 74201816 deletion of <=200bp TAAATAAATAAA - intron_variant MELA-AU 17 74202122 74202122 single base substitution G A intron_variant MELA-AU 17 74202795 74202795 single base substitution G A intron_variant MELA-AU 17 74203126 74203126 single base substitution C T downstream_gene_variant MELA-AU 17 74203126 74203126 single base substitution C T intron_variant MELA-AU 17 74203681 74203681 single base substitution A T downstream_gene_variant MELA-AU 17 74203681 74203681 single base substitution A T intron_variant MELA-AU 17 74205009 74205009 single base substitution C T downstream_gene_variant MELA-AU 17 74205009 74205009 single base substitution C T intron_variant MELA-AU 17 74205223 74205223 deletion of <=200bp C - downstream_gene_variant MELA-AU 17 74205223 74205223 deletion of <=200bp C - intron_variant MELA-AU 17 74205481 74205481 single base substitution C T downstream_gene_variant MELA-AU 17 74205481 74205481 single base substitution C T intron_variant MELA-AU 17 74205663 74205663 single base substitution G A downstream_gene_variant MELA-AU 17 74205663 74205663 single base substitution G A intron_variant MELA-AU 17 74205715 74205715 single base substitution G A downstream_gene_variant MELA-AU 17 74205715 74205715 single base substitution G A intron_variant MELA-AU 17 74205885 74205886 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 74205885 74205886 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 74206383 74206383 single base substitution G A downstream_gene_variant MELA-AU 17 74206383 74206383 single base substitution G A intron_variant MELA-AU 17 74206467 74206467 single base substitution C T downstream_gene_variant MELA-AU 17 74206467 74206467 single base substitution C T intron_variant MELA-AU 17 74207053 74207053 single base substitution T A downstream_gene_variant MELA-AU 17 74207053 74207053 single base substitution T A intron_variant MELA-AU 17 74207163 74207164 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 74207163 74207164 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 74207450 74207450 single base substitution C T downstream_gene_variant MELA-AU 17 74207450 74207450 single base substitution C T intron_variant MELA-AU 17 74208254 74208254 single base substitution G A 3_prime_UTR_variant MELA-AU 17 74208254 74208254 single base substitution G A intron_variant MELA-AU 17 74208506 74208506 single base substitution G A missense_variant P49L 146C>T MELA-AU 17 74208560 74208560 single base substitution C T missense_variant S31N 92G>A MELA-AU 17 74209484 74209484 single base substitution C T intron_variant MELA-AU 17 74209545 74209545 single base substitution G A intron_variant MELA-AU 17 74210224 74210224 single base substitution G C intron_variant MELA-AU 17 74210469 74210469 single base substitution C T intron_variant MELA-AU 17 74210773 74210773 single base substitution G A intron_variant MELA-AU 17 74210802 74210802 single base substitution C T intron_variant MELA-AU 17 74210934 74210934 single base substitution G A intron_variant MELA-AU 17 74211014 74211014 single base substitution G A intron_variant MELA-AU 17 74211745 74211745 single base substitution G A intron_variant MELA-AU 17 74211975 74211975 single base substitution G A intron_variant MELA-AU 17 74212404 74212404 single base substitution G A intron_variant MELA-AU 17 74213227 74213227 single base substitution A T intron_variant MELA-AU 17 74213275 74213275 single base substitution G A intron_variant MELA-AU 17 74213408 74213408 single base substitution G A intron_variant MELA-AU 17 74213902 74213902 single base substitution T G intron_variant MELA-AU 17 74214264 74214264 single base substitution G A intron_variant MELA-AU 17 74214725 74214725 single base substitution G A intron_variant MELA-AU 17 74214783 74214783 single base substitution G A intron_variant MELA-AU 17 74215023 74215023 single base substitution A G intron_variant MELA-AU 17 74215083 74215083 single base substitution G A intron_variant MELA-AU 17 74216352 74216352 single base substitution G A intron_variant MELA-AU 17 74216482 74216482 single base substitution A T intron_variant MELA-AU 17 74216726 74216726 single base substitution C G intron_variant MELA-AU 17 74217097 74217097 single base substitution G A intron_variant MELA-AU 17 74217241 74217241 single base substitution G A intron_variant MELA-AU 17 74217477 74217477 single base substitution G A intron_variant MELA-AU 17 74218099 74218099 single base substitution G A intron_variant MELA-AU 17 74218671 74218671 single base substitution C T intron_variant MELA-AU 17 74219287 74219287 single base substitution G A intron_variant MELA-AU 17 74221013 74221013 single base substitution G A intron_variant MELA-AU 17 74221362 74221362 single base substitution T C intron_variant MELA-AU 17 74221590 74221590 single base substitution T G intron_variant MELA-AU 17 74221911 74221911 single base substitution G A intron_variant MELA-AU 17 74222143 74222143 single base substitution G A intron_variant MELA-AU 17 74222309 74222309 single base substitution C T intron_variant MELA-AU 17 74222376 74222376 single base substitution G A intron_variant MELA-AU 17 74222390 74222390 single base substitution G A intron_variant MELA-AU 17 74222647 74222647 single base substitution C T intron_variant MELA-AU 17 74223946 74223946 single base substitution G A intron_variant MELA-AU 17 74224256 74224256 single base substitution G A intron_variant MELA-AU 17 74224353 74224353 single base substitution C A intron_variant MELA-AU 17 74224364 74224364 single base substitution C T intron_variant MELA-AU 17 74224491 74224491 single base substitution G A intron_variant MELA-AU 17 74224558 74224558 single base substitution C T intron_variant MELA-AU 17 74224576 74224576 single base substitution A G intron_variant MELA-AU 17 74225369 74225369 single base substitution G A intron_variant MELA-AU 17 74225486 74225486 single base substitution T C intron_variant MELA-AU 17 74225732 74225732 single base substitution G A intron_variant MELA-AU 17 74226644 74226644 single base substitution G A intron_variant MELA-AU 17 74227008 74227008 single base substitution G A intron_variant MELA-AU 17 74227111 74227111 single base substitution C A intron_variant MELA-AU 17 74227461 74227461 single base substitution G A intron_variant MELA-AU 17 74227913 74227913 single base substitution C T intron_variant MELA-AU 17 74228239 74228239 single base substitution G A intron_variant MELA-AU 17 74228256 74228256 single base substitution G A intron_variant MELA-AU 17 74229063 74229063 single base substitution C T intron_variant MELA-AU 17 74229614 74229614 single base substitution G A intron_variant MELA-AU 17 74229709 74229709 single base substitution C T intron_variant MELA-AU 17 74230169 74230169 single base substitution G A intron_variant MELA-AU 17 74230821 74230821 single base substitution C T intron_variant MELA-AU 17 74231327 74231327 single base substitution G A intron_variant MELA-AU 17 74231479 74231479 single base substitution C T intron_variant MELA-AU 17 74231881 74231881 single base substitution G A intron_variant MELA-AU 17 74232333 74232333 single base substitution G A intron_variant MELA-AU 17 74232618 74232618 single base substitution C T intron_variant MELA-AU 17 74232921 74232921 single base substitution C T intron_variant MELA-AU 17 74233371 74233371 single base substitution A G intron_variant MELA-AU 17 74234000 74234000 single base substitution C A intron_variant MELA-AU 17 74235862 74235862 single base substitution C T intron_variant MELA-AU 17 74237462 74237462 single base substitution C T upstream_gene_variant MELA-AU 17 74237658 74237658 single base substitution G A upstream_gene_variant MELA-AU 17 74237907 74237907 single base substitution C T upstream_gene_variant MELA-AU 17 74238911 74238911 single base substitution C T upstream_gene_variant MELA-AU 17 74239226 74239226 single base substitution C T upstream_gene_variant MELA-AU 17 74239241 74239241 single base substitution C T upstream_gene_variant MELA-AU 17 74239329 74239329 single base substitution G A upstream_gene_variant MELA-AU 17 74239495 74239495 single base substitution C T upstream_gene_variant MELA-AU 17 74239496 74239496 single base substitution G C upstream_gene_variant MELA-AU 17 74239543 74239543 single base substitution C T upstream_gene_variant MELA-AU 17 74239592 74239592 single base substitution G A upstream_gene_variant MELA-AU 17 74239706 74239706 single base substitution G A upstream_gene_variant MELA-AU 17 74239978 74239978 single base substitution C T upstream_gene_variant MELA-AU 17 74240100 74240100 single base substitution G A upstream_gene_variant MELA-AU 17 74240229 74240229 single base substitution C T upstream_gene_variant MELA-AU 17 74240496 74240496 single base substitution G A upstream_gene_variant MELA-AU 17 74240498 74240498 single base substitution A C upstream_gene_variant MELA-AU 17 74240696 74240696 single base substitution G A upstream_gene_variant MELA-AU 17 74240704 74240704 single base substitution G A upstream_gene_variant MELA-AU 17 74240848 74240848 single base substitution C T upstream_gene_variant MELA-AU 17 74240945 74240945 single base substitution C T upstream_gene_variant MELA-AU 17 74241278 74241278 single base substitution T A upstream_gene_variant MELA-AU 17 74241379 74241379 single base substitution C T upstream_gene_variant ORCA-IN 17 74133684 74133684 single base substitution G T downstream_gene_variant ORCA-IN 17 74134135 74134135 single base substitution G T downstream_gene_variant ORCA-IN 17 74179999 74179999 single base substitution G A intron_variant ORCA-IN 17 74184770 74184770 single base substitution C T intron_variant ORCA-IN 17 74205394 74205394 single base substitution C T downstream_gene_variant ORCA-IN 17 74205394 74205394 single base substitution C T intron_variant ORCA-IN 17 74223437 74223437 single base substitution G T intron_variant ORCA-IN 17 74223487 74223487 single base substitution T C intron_variant OV-AU 17 74146335 74146335 single base substitution C A downstream_gene_variant OV-AU 17 74146335 74146335 single base substitution C A intron_variant OV-AU 17 74162964 74162964 single base substitution C G intron_variant OV-AU 17 74162964 74162964 single base substitution C G upstream_gene_variant OV-AU 17 74163694 74163694 single base substitution C G intron_variant OV-AU 17 74163694 74163694 single base substitution C G upstream_gene_variant OV-AU 17 74167217 74167217 single base substitution C T intron_variant OV-AU 17 74167217 74167217 single base substitution C T upstream_gene_variant OV-AU 17 74170303 74170303 single base substitution G A intron_variant OV-AU 17 74171114 74171114 single base substitution G A intron_variant OV-AU 17 74174472 74174472 single base substitution C A intron_variant OV-AU 17 74177760 74177760 single base substitution A T intron_variant OV-AU 17 74178874 74178874 single base substitution G T intron_variant OV-AU 17 74183946 74183946 single base substitution T A intron_variant OV-AU 17 74186051 74186051 single base substitution C T intron_variant OV-AU 17 74188617 74188617 single base substitution C T intron_variant OV-AU 17 74190675 74190675 single base substitution C G intron_variant OV-AU 17 74190831 74190831 single base substitution T C intron_variant OV-AU 17 74215797 74215797 single base substitution A G intron_variant OV-AU 17 74217306 74217306 single base substitution T A intron_variant OV-AU 17 74224356 74224356 single base substitution C T intron_variant OV-AU 17 74225043 74225043 single base substitution C T intron_variant OV-AU 17 74229280 74229280 single base substitution C T intron_variant OV-AU 17 74234633 74234633 single base substitution G C intron_variant OV-AU 17 74235759 74235759 single base substitution C T intron_variant OV-AU 17 74238664 74238664 single base substitution A G upstream_gene_variant OV-AU 17 74239264 74239264 single base substitution G T upstream_gene_variant OV-AU 17 74239266 74239266 single base substitution G C upstream_gene_variant OV-AU 17 74239267 74239267 single base substitution A T upstream_gene_variant OV-AU 17 74239960 74239960 single base substitution T C upstream_gene_variant OV-AU 17 74240385 74240385 single base substitution G C upstream_gene_variant OV-AU 17 74240502 74240502 single base substitution C T upstream_gene_variant OV-AU 17 74240611 74240611 single base substitution A G upstream_gene_variant OV-US 17 74160863 74160863 single base substitution G T missense_variant T229N 686C>A OV-US 17 74160863 74160863 single base substitution G T missense_variant T66N 197C>A OV-US 17 74160863 74160863 single base substitution G T upstream_gene_variant PACA-AU 17 74134062 74134062 single base substitution C T downstream_gene_variant PACA-AU 17 74135165 74135165 single base substitution C T downstream_gene_variant PACA-AU 17 74135785 74135785 insertion of <=200bp - TC downstream_gene_variant PACA-AU 17 74137054 74137054 single base substitution C T downstream_gene_variant PACA-AU 17 74145825 74145825 single base substitution C T downstream_gene_variant PACA-AU 17 74145825 74145825 single base substitution C T intron_variant PACA-AU 17 74153298 74153298 single base substitution C T downstream_gene_variant PACA-AU 17 74153298 74153298 single base substitution C T intron_variant PACA-AU 17 74153298 74153298 single base substitution C T upstream_gene_variant PACA-AU 17 74156832 74156832 single base substitution T C downstream_gene_variant PACA-AU 17 74156832 74156832 single base substitution T C intron_variant PACA-AU 17 74156832 74156832 single base substitution T C upstream_gene_variant PACA-AU 17 74161839 74161839 single base substitution G A intron_variant PACA-AU 17 74161839 74161839 single base substitution G A upstream_gene_variant PACA-AU 17 74171072 74171072 single base substitution A C intron_variant PACA-AU 17 74177290 74177290 single base substitution C T intron_variant PACA-AU 17 74178031 74178031 single base substitution A C intron_variant PACA-AU 17 74178870 74178870 single base substitution G A intron_variant PACA-AU 17 74183022 74183022 insertion of <=200bp - AAAT intron_variant PACA-AU 17 74183328 74183328 single base substitution G C intron_variant PACA-AU 17 74185822 74185822 single base substitution G A intron_variant PACA-AU 17 74185916 74185916 single base substitution C T intron_variant PACA-AU 17 74192013 74192013 single base substitution C T intron_variant PACA-AU 17 74192697 74192697 single base substitution C T intron_variant PACA-AU 17 74198193 74198193 insertion of <=200bp - TC intron_variant PACA-AU 17 74199008 74199008 single base substitution C A intron_variant PACA-AU 17 74202960 74202960 single base substitution C T downstream_gene_variant PACA-AU 17 74202960 74202960 single base substitution C T intron_variant PACA-AU 17 74204423 74204423 single base substitution G A downstream_gene_variant PACA-AU 17 74204423 74204423 single base substitution G A intron_variant PACA-AU 17 74208027 74208027 single base substitution T A 3_prime_UTR_variant PACA-AU 17 74208027 74208027 single base substitution T A intron_variant PACA-AU 17 74209394 74209394 single base substitution T C intron_variant PACA-AU 17 74223102 74223102 single base substitution G T intron_variant PACA-AU 17 74223128 74223128 single base substitution G A intron_variant PACA-AU 17 74223181 74223181 single base substitution T C intron_variant PACA-AU 17 74223192 74223192 single base substitution T G intron_variant PACA-AU 17 74226086 74226086 single base substitution C A intron_variant PACA-AU 17 74232113 74232113 single base substitution T A intron_variant PACA-AU 17 74235765 74235765 single base substitution C T intron_variant PACA-CA 17 74133917 74133917 single base substitution C T downstream_gene_variant PACA-CA 17 74141709 74141709 single base substitution G A intron_variant PACA-CA 17 74141709 74141709 single base substitution G A upstream_gene_variant PACA-CA 17 74147484 74147484 single base substitution G A downstream_gene_variant PACA-CA 17 74147484 74147484 single base substitution G A intron_variant PACA-CA 17 74147518 74147518 single base substitution C T downstream_gene_variant PACA-CA 17 74147518 74147518 single base substitution C T intron_variant PACA-CA 17 74148109 74148109 single base substitution G A downstream_gene_variant PACA-CA 17 74148109 74148109 single base substitution G A intron_variant PACA-CA 17 74148626 74148626 deletion of <=200bp G - downstream_gene_variant PACA-CA 17 74148626 74148626 deletion of <=200bp G - exon_variant PACA-CA 17 74148626 74148626 deletion of <=200bp G - intron_variant PACA-CA 17 74151243 74151243 single base substitution C G intron_variant PACA-CA 17 74151243 74151243 single base substitution C G upstream_gene_variant PACA-CA 17 74152437 74152437 single base substitution G A exon_variant PACA-CA 17 74152437 74152437 single base substitution G A intron_variant PACA-CA 17 74152437 74152437 single base substitution G A upstream_gene_variant PACA-CA 17 74154571 74154596 deletion of <=200bp TGGGAAGTGGATCTGTAGGAGTCCAG - downstream_gene_variant PACA-CA 17 74154571 74154596 deletion of <=200bp TGGGAAGTGGATCTGTAGGAGTCCAG - exon_variant PACA-CA 17 74154571 74154596 deletion of <=200bp TGGGAAGTGGATCTGTAGGAGTCCAG - splice_acceptor_variant PACA-CA 17 74154571 74154596 deletion of <=200bp TGGGAAGTGGATCTGTAGGAGTCCAG - upstream_gene_variant PACA-CA 17 74156888 74156888 single base substitution C A downstream_gene_variant PACA-CA 17 74156888 74156888 single base substitution C A intron_variant PACA-CA 17 74156888 74156888 single base substitution C A upstream_gene_variant PACA-CA 17 74160963 74160963 single base substitution G A intron_variant PACA-CA 17 74160963 74160963 single base substitution G A upstream_gene_variant PACA-CA 17 74166546 74166546 single base substitution G T intron_variant PACA-CA 17 74166546 74166546 single base substitution G T upstream_gene_variant PACA-CA 17 74168405 74168405 single base substitution G A intron_variant PACA-CA 17 74169787 74169787 single base substitution C T missense_variant V98I 292G>A PACA-CA 17 74174921 74174924 deletion of <=200bp TAAC - intron_variant PACA-CA 17 74175176 74175176 single base substitution G A intron_variant PACA-CA 17 74176687 74176687 single base substitution G A intron_variant PACA-CA 17 74182057 74182057 insertion of <=200bp - AT intron_variant PACA-CA 17 74190719 74190719 single base substitution C T intron_variant PACA-CA 17 74192376 74192376 single base substitution A G intron_variant PACA-CA 17 74193245 74193245 single base substitution C T intron_variant PACA-CA 17 74196926 74196926 single base substitution C A intron_variant PACA-CA 17 74198209 74198209 single base substitution T A intron_variant PACA-CA 17 74201930 74201930 single base substitution G A intron_variant PACA-CA 17 74204163 74204163 single base substitution A T downstream_gene_variant PACA-CA 17 74204163 74204163 single base substitution A T intron_variant PACA-CA 17 74205575 74205575 single base substitution C T downstream_gene_variant PACA-CA 17 74205575 74205575 single base substitution C T intron_variant PACA-CA 17 74206480 74206480 single base substitution G T downstream_gene_variant PACA-CA 17 74206480 74206480 single base substitution G T intron_variant PACA-CA 17 74212378 74212378 single base substitution G A intron_variant PACA-CA 17 74213255 74213255 single base substitution T C intron_variant PACA-CA 17 74222994 74222994 single base substitution C T intron_variant PACA-CA 17 74224050 74224050 single base substitution C T intron_variant PACA-CA 17 74224862 74224862 single base substitution C T intron_variant PACA-CA 17 74225656 74225656 single base substitution C A intron_variant PACA-CA 17 74229734 74229734 single base substitution C A intron_variant PACA-CA 17 74234830 74234830 single base substitution C A intron_variant PAEN-AU 17 74158297 74158297 single base substitution C T downstream_gene_variant PAEN-AU 17 74158297 74158297 single base substitution C T intron_variant PAEN-AU 17 74158297 74158297 single base substitution C T upstream_gene_variant PAEN-AU 17 74172671 74172671 single base substitution C T intron_variant PAEN-AU 17 74201825 74201825 single base substitution T A intron_variant PBCA-DE 17 74146022 74146022 single base substitution G C downstream_gene_variant PBCA-DE 17 74146022 74146022 single base substitution G C intron_variant PBCA-DE 17 74148088 74148088 single base substitution G A downstream_gene_variant PBCA-DE 17 74148088 74148088 single base substitution G A intron_variant PBCA-DE 17 74153710 74153710 single base substitution C G downstream_gene_variant PBCA-DE 17 74153710 74153710 single base substitution C G intron_variant PBCA-DE 17 74153710 74153710 single base substitution C G upstream_gene_variant PBCA-DE 17 74156629 74156629 insertion of <=200bp - T downstream_gene_variant PBCA-DE 17 74156629 74156629 insertion of <=200bp - T intron_variant PBCA-DE 17 74156629 74156629 insertion of <=200bp - T upstream_gene_variant PBCA-DE 17 74161560 74161560 single base substitution C T intron_variant PBCA-DE 17 74161560 74161560 single base substitution C T upstream_gene_variant PBCA-DE 17 74168733 74168734 deletion of <=200bp AT - intron_variant PBCA-DE 17 74172687 74172687 deletion of <=200bp G - intron_variant PBCA-DE 17 74174907 74174907 insertion of <=200bp - T intron_variant PBCA-DE 17 74178891 74178891 single base substitution G A intron_variant PBCA-DE 17 74182299 74182299 single base substitution T G intron_variant PBCA-DE 17 74183270 74183270 insertion of <=200bp - T intron_variant PBCA-DE 17 74184560 74184560 single base substitution C A intron_variant PBCA-DE 17 74191317 74191317 single base substitution C G intron_variant PBCA-DE 17 74203028 74203028 single base substitution C A downstream_gene_variant PBCA-DE 17 74203028 74203028 single base substitution C A intron_variant PBCA-DE 17 74204277 74204277 single base substitution T C downstream_gene_variant PBCA-DE 17 74204277 74204277 single base substitution T C intron_variant PBCA-DE 17 74212972 74212972 insertion of <=200bp - A intron_variant PBCA-DE 17 74226973 74226973 single base substitution G T intron_variant PBCA-DE 17 74227227 74227227 single base substitution G A intron_variant PBCA-DE 17 74234625 74234625 single base substitution C T intron_variant PBCA-DE 17 74236634 74236634 single base substitution C A upstream_gene_variant PBCA-DE 17 74237134 74237134 insertion of <=200bp - T upstream_gene_variant PRAD-CA 17 74136368 74136368 single base substitution G C downstream_gene_variant PRAD-CA 17 74136369 74136369 single base substitution C T downstream_gene_variant PRAD-CA 17 74140563 74140563 single base substitution T A 3_prime_UTR_variant PRAD-CA 17 74140563 74140563 single base substitution T A downstream_gene_variant PRAD-CA 17 74140563 74140563 single base substitution T A intron_variant PRAD-CA 17 74149013 74149013 single base substitution C T downstream_gene_variant PRAD-CA 17 74149013 74149013 single base substitution C T intron_variant PRAD-CA 17 74149013 74149013 single base substitution C T upstream_gene_variant PRAD-CA 17 74167238 74167238 single base substitution G T intron_variant PRAD-CA 17 74167238 74167238 single base substitution G T upstream_gene_variant PRAD-CA 17 74184222 74184222 single base substitution C T intron_variant PRAD-CA 17 74198211 74198211 single base substitution A T intron_variant PRAD-CA 17 74198213 74198213 single base substitution A T intron_variant PRAD-CA 17 74198215 74198215 single base substitution A T intron_variant PRAD-CA 17 74227030 74227030 single base substitution C T intron_variant PRAD-UK 17 74150880 74150880 single base substitution C T intron_variant PRAD-UK 17 74150880 74150880 single base substitution C T upstream_gene_variant PRAD-UK 17 74159558 74159558 single base substitution G A 3_prime_UTR_variant PRAD-UK 17 74159558 74159558 single base substitution G A intron_variant PRAD-UK 17 74159558 74159558 single base substitution G A upstream_gene_variant PRAD-UK 17 74165952 74165952 single base substitution G A intron_variant PRAD-UK 17 74165952 74165952 single base substitution G A upstream_gene_variant PRAD-UK 17 74170273 74170273 single base substitution C G intron_variant PRAD-UK 17 74190434 74190434 single base substitution C T intron_variant PRAD-UK 17 74196797 74196797 single base substitution C A intron_variant PRAD-UK 17 74197999 74198012 deletion of <=200bp TCATTTCACACTCT - intron_variant PRAD-UK 17 74231301 74231301 single base substitution C T intron_variant PRAD-UK 17 74240399 74240399 single base substitution C T upstream_gene_variant READ-US 17 74133974 74133974 single base substitution C T downstream_gene_variant READ-US 17 74136058 74136058 single base substitution G A downstream_gene_variant RECA-EU 17 74140708 74140708 single base substitution A T 3_prime_UTR_variant RECA-EU 17 74140708 74140708 single base substitution A T downstream_gene_variant RECA-EU 17 74140708 74140708 single base substitution A T intron_variant RECA-EU 17 74150885 74150885 single base substitution C A intron_variant RECA-EU 17 74150885 74150885 single base substitution C A upstream_gene_variant RECA-EU 17 74158368 74158368 single base substitution C T downstream_gene_variant RECA-EU 17 74158368 74158368 single base substitution C T intron_variant RECA-EU 17 74158368 74158368 single base substitution C T upstream_gene_variant RECA-EU 17 74159032 74159032 single base substitution C T 3_prime_UTR_variant RECA-EU 17 74159032 74159032 single base substitution C T intron_variant RECA-EU 17 74159032 74159032 single base substitution C T upstream_gene_variant RECA-EU 17 74200621 74200621 single base substitution A C intron_variant RECA-EU 17 74213463 74213463 single base substitution C A intron_variant RECA-EU 17 74222320 74222320 single base substitution C T intron_variant RECA-EU 17 74222490 74222490 single base substitution A G intron_variant RECA-EU 17 74234672 74234672 single base substitution A C intron_variant RECA-EU 17 74237109 74237109 single base substitution G T upstream_gene_variant SKCA-BR 17 74134510 74134510 single base substitution A C downstream_gene_variant SKCA-BR 17 74134749 74134749 single base substitution C T downstream_gene_variant SKCA-BR 17 74135271 74135271 single base substitution G A downstream_gene_variant SKCA-BR 17 74138970 74138970 single base substitution G A 3_prime_UTR_variant SKCA-BR 17 74138970 74138970 single base substitution G A downstream_gene_variant SKCA-BR 17 74138970 74138970 single base substitution G A intron_variant SKCA-BR 17 74140437 74140437 single base substitution G A 3_prime_UTR_variant SKCA-BR 17 74140437 74140437 single base substitution G A downstream_gene_variant SKCA-BR 17 74140437 74140437 single base substitution G A intron_variant SKCA-BR 17 74142419 74142419 single base substitution G A intron_variant SKCA-BR 17 74142419 74142419 single base substitution G A upstream_gene_variant SKCA-BR 17 74143517 74143517 single base substitution G A intron_variant SKCA-BR 17 74143517 74143517 single base substitution G A upstream_gene_variant SKCA-BR 17 74144647 74144647 insertion of <=200bp - CCT intron_variant SKCA-BR 17 74144647 74144647 insertion of <=200bp - CCT upstream_gene_variant SKCA-BR 17 74144648 74144648 single base substitution T C intron_variant SKCA-BR 17 74144648 74144648 single base substitution T C upstream_gene_variant SKCA-BR 17 74147399 74147399 single base substitution T C downstream_gene_variant SKCA-BR 17 74147399 74147399 single base substitution T C intron_variant SKCA-BR 17 74148572 74148572 single base substitution G A downstream_gene_variant SKCA-BR 17 74148572 74148572 single base substitution G A exon_variant SKCA-BR 17 74148572 74148572 single base substitution G A intron_variant SKCA-BR 17 74148631 74148631 single base substitution G A downstream_gene_variant SKCA-BR 17 74148631 74148631 single base substitution G A exon_variant SKCA-BR 17 74148631 74148631 single base substitution G A intron_variant SKCA-BR 17 74149203 74149204 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 17 74149203 74149204 deletion of <=200bp CA - intron_variant SKCA-BR 17 74149203 74149204 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 17 74149204 74149204 single base substitution A C downstream_gene_variant SKCA-BR 17 74149204 74149204 single base substitution A C intron_variant SKCA-BR 17 74149204 74149204 single base substitution A C upstream_gene_variant SKCA-BR 17 74149205 74149205 single base substitution G C downstream_gene_variant SKCA-BR 17 74149205 74149205 single base substitution G C intron_variant SKCA-BR 17 74149205 74149205 single base substitution G C upstream_gene_variant SKCA-BR 17 74150607 74150607 single base substitution G A intron_variant SKCA-BR 17 74150607 74150607 single base substitution G A upstream_gene_variant SKCA-BR 17 74150766 74150766 single base substitution G A intron_variant SKCA-BR 17 74150766 74150766 single base substitution G A upstream_gene_variant SKCA-BR 17 74151679 74151679 single base substitution G A exon_variant SKCA-BR 17 74151679 74151679 single base substitution G A synonymous_variant P554P 1662C>T SKCA-BR 17 74151679 74151679 single base substitution G A synonymous_variant P61P 183C>T SKCA-BR 17 74151679 74151679 single base substitution G A upstream_gene_variant SKCA-BR 17 74156758 74156758 single base substitution A T downstream_gene_variant SKCA-BR 17 74156758 74156758 single base substitution A T intron_variant SKCA-BR 17 74156758 74156758 single base substitution A T upstream_gene_variant SKCA-BR 17 74157880 74157880 single base substitution T C downstream_gene_variant SKCA-BR 17 74157880 74157880 single base substitution T C intron_variant SKCA-BR 17 74157880 74157880 single base substitution T C upstream_gene_variant SKCA-BR 17 74157887 74157887 single base substitution T C downstream_gene_variant SKCA-BR 17 74157887 74157887 single base substitution T C intron_variant SKCA-BR 17 74157887 74157887 single base substitution T C upstream_gene_variant SKCA-BR 17 74157891 74157891 single base substitution A C downstream_gene_variant SKCA-BR 17 74157891 74157891 single base substitution A C intron_variant SKCA-BR 17 74157891 74157891 single base substitution A C upstream_gene_variant SKCA-BR 17 74159270 74159270 single base substitution C T 3_prime_UTR_variant SKCA-BR 17 74159270 74159270 single base substitution C T intron_variant SKCA-BR 17 74159270 74159270 single base substitution C T upstream_gene_variant SKCA-BR 17 74161210 74161210 single base substitution G A intron_variant SKCA-BR 17 74161210 74161210 single base substitution G A upstream_gene_variant SKCA-BR 17 74165270 74165270 single base substitution C A intron_variant SKCA-BR 17 74165270 74165270 single base substitution C A upstream_gene_variant SKCA-BR 17 74165341 74165341 single base substitution G A intron_variant SKCA-BR 17 74165341 74165341 single base substitution G A upstream_gene_variant SKCA-BR 17 74165660 74165662 deletion of <=200bp GTT - intron_variant SKCA-BR 17 74165660 74165662 deletion of <=200bp GTT - upstream_gene_variant SKCA-BR 17 74170141 74170141 single base substitution C T intron_variant SKCA-BR 17 74171392 74171392 single base substitution A G intron_variant SKCA-BR 17 74173152 74173152 single base substitution G A intron_variant SKCA-BR 17 74173385 74173385 insertion of <=200bp - TC intron_variant SKCA-BR 17 74183021 74183021 insertion of <=200bp - AAAAT intron_variant SKCA-BR 17 74184033 74184033 single base substitution G A intron_variant SKCA-BR 17 74184224 74184224 single base substitution G A intron_variant SKCA-BR 17 74184788 74184788 single base substitution G A intron_variant SKCA-BR 17 74186978 74186978 single base substitution G A intron_variant SKCA-BR 17 74186979 74186979 single base substitution A C intron_variant SKCA-BR 17 74187681 74187682 deletion of <=200bp CA - intron_variant SKCA-BR 17 74192016 74192016 single base substitution G A intron_variant SKCA-BR 17 74192061 74192061 single base substitution G A intron_variant SKCA-BR 17 74194043 74194043 single base substitution G A intron_variant SKCA-BR 17 74194679 74194679 single base substitution C T intron_variant SKCA-BR 17 74195170 74195170 single base substitution G A intron_variant SKCA-BR 17 74195591 74195591 single base substitution T C intron_variant SKCA-BR 17 74196204 74196204 single base substitution T C intron_variant SKCA-BR 17 74198209 74198209 insertion of <=200bp - TCTCA intron_variant SKCA-BR 17 74198525 74198525 single base substitution C T intron_variant SKCA-BR 17 74199331 74199331 single base substitution C A intron_variant SKCA-BR 17 74199517 74199517 single base substitution G A intron_variant SKCA-BR 17 74202795 74202795 single base substitution G A intron_variant SKCA-BR 17 74203618 74203618 single base substitution G A downstream_gene_variant SKCA-BR 17 74203618 74203618 single base substitution G A intron_variant SKCA-BR 17 74211636 74211638 deletion of <=200bp AAT - intron_variant SKCA-BR 17 74213082 74213082 single base substitution T C intron_variant SKCA-BR 17 74216739 74216739 single base substitution T A intron_variant SKCA-BR 17 74221911 74221911 single base substitution G A intron_variant SKCA-BR 17 74222101 74222101 single base substitution G A intron_variant SKCA-BR 17 74223946 74223946 single base substitution G A intron_variant SKCA-BR 17 74225651 74225651 single base substitution A C intron_variant SKCA-BR 17 74226375 74226375 single base substitution A G intron_variant SKCA-BR 17 74226376 74226376 single base substitution G A intron_variant SKCA-BR 17 74227139 74227139 single base substitution C T intron_variant SKCA-BR 17 74229007 74229007 insertion of <=200bp - AT intron_variant SKCA-BR 17 74229625 74229626 deletion of <=200bp AT - intron_variant SKCA-BR 17 74230989 74230989 single base substitution G A intron_variant SKCA-BR 17 74231900 74231900 single base substitution G A intron_variant SKCA-BR 17 74235629 74235629 single base substitution A C intron_variant SKCA-BR 17 74236179 74236179 single base substitution A C intron_variant SKCA-BR 17 74236343 74236343 single base substitution G C 5_prime_UTR_variant SKCA-BR 17 74237325 74237325 single base substitution C A upstream_gene_variant SKCA-BR 17 74238457 74238457 single base substitution G A upstream_gene_variant SKCA-BR 17 74238627 74238627 single base substitution G A upstream_gene_variant SKCA-BR 17 74240088 74240088 single base substitution G A upstream_gene_variant SKCM-US 17 74133578 74133578 single base substitution C T downstream_gene_variant SKCM-US 17 74133668 74133668 single base substitution C T downstream_gene_variant SKCM-US 17 74133827 74133827 single base substitution G A downstream_gene_variant SKCM-US 17 74133888 74133888 single base substitution C T downstream_gene_variant SKCM-US 17 74133899 74133899 single base substitution C T downstream_gene_variant SKCM-US 17 74134004 74134004 single base substitution G A downstream_gene_variant SKCM-US 17 74134103 74134103 single base substitution G A downstream_gene_variant SKCM-US 17 74134192 74134192 single base substitution G C downstream_gene_variant SKCM-US 17 74136158 74136158 single base substitution G A downstream_gene_variant SKCM-US 17 74136160 74136160 single base substitution G A downstream_gene_variant SKCM-US 17 74136212 74136212 single base substitution C T downstream_gene_variant SKCM-US 17 74136356 74136356 single base substitution C T downstream_gene_variant SKCM-US 17 74141503 74141503 single base substitution G A intron_variant SKCM-US 17 74141503 74141503 single base substitution G A upstream_gene_variant SKCM-US 17 74151703 74151703 single base substitution C T exon_variant SKCM-US 17 74151703 74151703 single base substitution C T synonymous_variant E53E 159G>A SKCM-US 17 74151703 74151703 single base substitution C T synonymous_variant E546E 1638G>A SKCM-US 17 74151703 74151703 single base substitution C T upstream_gene_variant SKCM-US 17 74151734 74151734 single base substitution G A exon_variant SKCM-US 17 74151734 74151734 single base substitution G A missense_variant S43F 128C>T SKCM-US 17 74151734 74151734 single base substitution G A missense_variant S536F 1607C>T SKCM-US 17 74151734 74151734 single base substitution G A upstream_gene_variant SKCM-US 17 74151745 74151745 single base substitution G A exon_variant SKCM-US 17 74151745 74151745 single base substitution G A synonymous_variant V39V 117C>T SKCM-US 17 74151745 74151745 single base substitution G A synonymous_variant V532V 1596C>T SKCM-US 17 74151745 74151745 single base substitution G A upstream_gene_variant SKCM-US 17 74154583 74154583 single base substitution C T downstream_gene_variant SKCM-US 17 74154583 74154583 single base substitution C T exon_variant SKCM-US 17 74154583 74154583 single base substitution C T splice_acceptor_variant SKCM-US 17 74154583 74154583 single base substitution C T upstream_gene_variant SKCM-US 17 74155521 74155521 single base substitution G A downstream_gene_variant SKCM-US 17 74155521 74155521 single base substitution G A missense_variant S400L 1199C>T SKCM-US 17 74155521 74155521 single base substitution G A upstream_gene_variant SKCM-US 17 74155587 74155587 single base substitution G A downstream_gene_variant SKCM-US 17 74155587 74155587 single base substitution G A missense_variant T378I 1133C>T SKCM-US 17 74155587 74155587 single base substitution G A upstream_gene_variant SKCM-US 17 74163761 74163761 single base substitution G A synonymous_variant A138A 414C>T SKCM-US 17 74163761 74163761 single base substitution G A upstream_gene_variant SKCM-US 17 74163764 74163764 single base substitution C T synonymous_variant Q137Q 411G>A SKCM-US 17 74163764 74163764 single base substitution C T upstream_gene_variant SKCM-US 17 74208526 74208526 single base substitution C T synonymous_variant E42E 126G>A SKCM-US 17 74236267 74236267 single base substitution A C missense_variant S19A 55T>G STAD-US 17 74133820 74133820 single base substitution G A downstream_gene_variant STAD-US 17 74133832 74133832 insertion of <=200bp - G downstream_gene_variant STAD-US 17 74133833 74133833 insertion of <=200bp - G downstream_gene_variant STAD-US 17 74134076 74134076 single base substitution G A downstream_gene_variant STAD-US 17 74134113 74134113 single base substitution C T downstream_gene_variant STAD-US 17 74134139 74134139 single base substitution G A downstream_gene_variant STAD-US 17 74136102 74136102 single base substitution C T downstream_gene_variant STAD-US 17 74136150 74136150 deletion of <=200bp G - downstream_gene_variant STAD-US 17 74141371 74141371 single base substitution C A 3_prime_UTR_variant STAD-US 17 74141371 74141371 single base substitution C A exon_variant STAD-US 17 74141371 74141371 single base substitution C A missense_variant S640I 1919G>T STAD-US 17 74141371 74141371 single base substitution C A missense_variant S662I 1985G>T STAD-US 17 74141371 74141371 single base substitution C A upstream_gene_variant STAD-US 17 74151699 74151699 single base substitution C T exon_variant STAD-US 17 74151699 74151699 single base substitution C T missense_variant G548R 1642G>A STAD-US 17 74151699 74151699 single base substitution C T missense_variant G55R 163G>A STAD-US 17 74151699 74151699 single base substitution C T upstream_gene_variant STAD-US 17 74154490 74154490 single base substitution A G downstream_gene_variant STAD-US 17 74154490 74154490 single base substitution A G exon_variant STAD-US 17 74154490 74154490 single base substitution A G missense_variant V466A 1397T>C STAD-US 17 74154490 74154490 single base substitution A G upstream_gene_variant STAD-US 17 74155544 74155544 single base substitution G A downstream_gene_variant STAD-US 17 74155544 74155544 single base substitution G A synonymous_variant G392G 1176C>T STAD-US 17 74155544 74155544 single base substitution G A upstream_gene_variant STAD-US 17 74157975 74157975 single base substitution A G downstream_gene_variant STAD-US 17 74157975 74157975 single base substitution A G exon_variant STAD-US 17 74157975 74157975 single base substitution A G missense_variant C301R 901T>C STAD-US 17 74157975 74157975 single base substitution A G upstream_gene_variant STAD-US 17 74158016 74158016 single base substitution G A downstream_gene_variant STAD-US 17 74158016 74158016 single base substitution G A exon_variant STAD-US 17 74158016 74158016 single base substitution G A missense_variant T287I 860C>T STAD-US 17 74158016 74158016 single base substitution G A upstream_gene_variant STAD-US 17 74163130 74163130 single base substitution G T missense_variant P11H 32C>A STAD-US 17 74163130 74163130 single base substitution G T missense_variant P174H 521C>A STAD-US 17 74163130 74163130 single base substitution G T upstream_gene_variant STAD-US 17 74169807 74169807 single base substitution C T missense_variant R91Q 272G>A STAD-US 17 74208460 74208460 insertion of <=200bp - C frameshift_variant G64G? UCEC-US 17 74134157 74134157 single base substitution T G downstream_gene_variant UCEC-US 17 74151332 74151332 single base substitution C T intron_variant UCEC-US 17 74151332 74151332 single base substitution C T splice_donor_variant UCEC-US 17 74151332 74151332 single base substitution C T upstream_gene_variant UCEC-US 17 74151388 74151388 single base substitution G A exon_variant UCEC-US 17 74151388 74151388 single base substitution G A intron_variant UCEC-US 17 74151388 74151388 single base substitution G A missense_variant A570V 1709C>T UCEC-US 17 74151388 74151388 single base substitution G A missense_variant A77V 230C>T UCEC-US 17 74151388 74151388 single base substitution G A upstream_gene_variant UCEC-US 17 74151703 74151703 single base substitution C A exon_variant UCEC-US 17 74151703 74151703 single base substitution C A missense_variant E53D 159G>T UCEC-US 17 74151703 74151703 single base substitution C A missense_variant E546D 1638G>T UCEC-US 17 74151703 74151703 single base substitution C A upstream_gene_variant UCEC-US 17 74154583 74154583 single base substitution C A downstream_gene_variant UCEC-US 17 74154583 74154583 single base substitution C A exon_variant UCEC-US 17 74154583 74154583 single base substitution C A splice_acceptor_variant UCEC-US 17 74154583 74154583 single base substitution C A upstream_gene_variant UCEC-US 17 74155423 74155423 single base substitution G T downstream_gene_variant UCEC-US 17 74155423 74155423 single base substitution G T missense_variant L433I 1297C>A UCEC-US 17 74155423 74155423 single base substitution G T upstream_gene_variant UCEC-US 17 74155617 74155617 single base substitution G T downstream_gene_variant UCEC-US 17 74155617 74155617 single base substitution G T missense_variant S368Y 1103C>A UCEC-US 17 74155617 74155617 single base substitution G T upstream_gene_variant UCEC-US 17 74163194 74163194 single base substitution C A missense_variant D153Y 457G>T UCEC-US 17 74163194 74163194 single base substitution C A upstream_gene_variant UCEC-US 17 74208555 74208555 single base substitution A C missense_variant F33V 97T>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PD4115a COSM219483 c.2932G>A p.G978R Substitution - Missense 17:76159516-76159516 - T3225 COSM4271508 c.174C>T p.S58S Substitution - coding silent 17:76212397-76212397 - TCGA-BR-6452-01 COSM4069845 c.521C>A p.P174H Substitution - Missense 17:76167049-76167049 - C0069T COSM4000302 c.1195G>A p.E399K Substitution - Missense 17:76226239-76226239 - 2492720 COSM5722696 c.1476G>T p.Q492H Substitution - Missense 17:76156259-76156259 - 824_T COSM3958771 c.387G>T p.R129R Substitution - coding silent 17:76167707-76167707 - YUMUL COSM5387374 c.2282_2283CC>TT p.P761L Substitution - Missense 17:76167117-76167118 - C086 COSM4271484 c.730G>A p.V244I Substitution - Missense 17:76162614-76162614 - T2269 COSM4722024 c.473C>T p.S158L Substitution - Missense 17:76167097-76167097 - TCGA-AP-A0LM-01 COSM4873661 c.1764+1G>A p.? Unknown 17:76155251-76155251 - WA35 COSM241436 c.3044C>T p.T1015M Substitution - Missense 17:76159404-76159404 - CHC892T COSM4796280 c.1025C>T p.P342L Substitution - Missense 17:76161575-76161575 - CHC892T COSM4795938 c.3945C>T p.S1315S Substitution - coding silent 17:76145286-76145286 - TCGA-AP-A0LM-01 COSM984618 c.3114-1G>T p.? Unknown 17:76158502-76158502 - 2492721 COSM5722696 c.1476G>T p.Q492H Substitution - Missense 17:76156259-76156259 - 824_T COSM3958772 c.2217G>T p.R739R Substitution - coding silent 17:76167707-76167707 - BD123T COSM5521115 c.3637G>A p.A1213T Substitution - Missense 17:76152451-76152451 - 2492723 COSM5722696 c.1476G>T p.Q492H Substitution - Missense 17:76156259-76156259 - 8058336 COSM3773286 c.498-5C>A p.? Unknown 17:76227021-76227021 - TCGA-CG-5721-01 COSM4069836 c.3206T>C p.V1069A Substitution - Missense 17:76158409-76158409 - TCGA-43-3920-01 COSM707158 c.3595G>A p.E1199K Substitution - Missense 17:76154307-76154307 - TCGA-DR-A0ZM-01 COSM4821601 c.728G>A p.G243E Substitution - Missense 17:76162616-76162616 - TCGA-FW-A3R5-06 COSM3890478 c.2244C>T p.A748A Substitution - coding silent 17:76167680-76167680 - HCC69 COSM3717608 c.589T>C p.Y197H Substitution - Missense 17:76166500-76166500 - TCGA-39-5028-01 COSM707153 c.2251G>A p.E751K Substitution - Missense 17:76167673-76167673 - TCGA-10-0938-01 COSM111451 c.3248delA p.E1083fs*114 Deletion - Frameshift 17:76156296-76156296 - TCGA-CG-5717-01 COSM4069841 c.2683T>C p.C895R Substitution - Missense 17:76161894-76161894 - T2643 COSM4722020 c.1304A>C p.K435T Substitution - Missense 17:76159335-76159335 - HCT15 COSM2743052 c.3657T>C p.C1219C Substitution - coding silent 17:76152431-76152431 - C086 COSM2743086 c.2512G>A p.V838I Substitution - Missense 17:76162614-76162614 - TCGA-12-1597-01 COSM3403232 c.2767C>T p.R923W Substitution - Missense 17:76161642-76161642 - PTC-28C COSM4130650 c.1685C>A p.S562* Substitution - Nonsense 17:76155575-76155575 - LUAD-F00162 COSM366247 c.2699G>A p.R900H Substitution - Missense 17:76161878-76161878 - CSCC-49-T COSM4522565 c.2977G>A p.G993R Substitution - Missense 17:76159471-76159471 - TCGA-AZ-6601-01 COSM1386154 c.3632C>T p.T1211M Substitution - Missense 17:76152456-76152456 - TCGA-HU-A4H8-01 COSM4069830 c.1985G>T p.S662I Substitution - Missense 17:76145290-76145290 - MD-054 COSM303122 c.2874+1G>A p.? Unknown 17:76161534-76161534 - TCGA-B5-A11E-01 COSM4869945 c.1297C>A p.L433I Substitution - Missense 17:76159342-76159342 - PT08_2 COSM5893946 c.1305-3C>A p.? Unknown 17:76158504-76158504 - TCGA-BQ-7048-01 COSM3989347 c.799G>T p.E267* Substitution - Nonsense 17:76161996-76161996 - TCGA-BR-6452-01 COSM4069846 c.2351C>A p.P784H Substitution - Missense 17:76167049-76167049 - TCGA-D1-A16Y-01 COSM984620 c.2912C>A p.S971Y Substitution - Missense 17:76159536-76159536 - SNUH_G73_S1 COSM3755883 c.354C>T p.Y118Y Substitution - coding silent 17:76167740-76167740 - PD4876a COSM5800329 c.1954G>A p.V652I Substitution - Missense 17:76172072-76172072 - TCGA-FW-A3R5-06 COSM3890474 c.3416C>T p.S1139F Substitution - Missense 17:76155653-76155653 - SJDES011-R COSM4580156 c.3491C>T p.P1164L Substitution - Missense 17:76155578-76155578 - TCGA-FW-A3R5-06 COSM3890480 c.126G>A p.E42E Substitution - coding silent 17:76212445-76212445 - CHC892T COSM4795938 c.3945C>T p.S1315S Substitution - coding silent 17:76145286-76145286 - HCC69T COSM3717608 c.589T>C p.Y197H Substitution - Missense 17:76166500-76166500 - TCGA-AP-A0LM-01 COSM4873766 c.97T>G p.F33V Substitution - Missense 17:76212474-76212474 - 585208 COSM326379 c.2401G>T p.D801Y Substitution - Missense 17:76166518-76166518 - 587376 COSM1223919 c.3067T>C p.S1023P Substitution - Missense 17:76159381-76159381 - TCGA-66-2785-01 COSM707159 c.3676G>C p.D1226H Substitution - Missense 17:76152412-76152412 - TCGA-DA-A1IC-06 COSM3522500 c.3008C>T p.S1003L Substitution - Missense 17:76159440-76159440 - BD236T COSM5519512 c.1122C>T p.N374N Substitution - coding silent 17:76159517-76159517 - TCGA-CG-5717-01 COSM4069840 c.901T>C p.C301R Substitution - Missense 17:76161894-76161894 - PTC-7C COSM4130653 c.2246C>T p.T749M Substitution - Missense 17:76167678-76167678 - S00472 COSM314844 c.3685A>C p.S1229R Substitution - Missense 17:76152403-76152403 - TCGA-CC-A3MA-01 COSM4942880 c.1912G>A p.V638I Substitution - Missense 17:76173706-76173706 - SNUH_G10_S1 COSM4000303 c.1025T>C p.V342A Substitution - Missense 17:76226409-76226409 - C004 COSM5521854 c.434G>A p.G145D Substitution - Missense 17:76167660-76167660 - SC_9036 COSM5551030 c.692G>T p.C231F Substitution - Missense 17:76164776-76164776 - TCGA-BH-A1FN-01 COSM4815284 c.89G>A p.G30E Substitution - Missense 17:76212482-76212482 - TCGA-66-2783-01 COSM707157 c.3172G>T p.E1058* Substitution - Nonsense 17:76158443-76158443 - TCGA-61-1913-01 COSM1324840 c.2563C>G p.Q855E Substitution - Missense 17:76162563-76162563 - TCGA-AN-A0XL-01 COSM4815484 c.1367C>T p.S456L Substitution - Missense 17:76158439-76158439 - BD165T COSM5505932 c.1947C>T p.A649A Substitution - coding silent 17:76145328-76145328 - SNUH_G73_S1 COSM3755884 c.2184C>T p.Y728Y Substitution - coding silent 17:76167740-76167740 - SC_9047 COSM5573593 c.2273+2T>A p.? Unknown 17:76167649-76167649 - QC2-40-T2 COSM5656105 c.3136G>A p.V1046M Substitution - Missense 17:76158479-76158479 - TCGA-12-1597-01 COSM3403231 c.958C>T p.R320W Substitution - Missense 17:76161642-76161642 - SJDES011-R COSM4580155 c.1682C>T p.P561L Substitution - Missense 17:76155578-76155578 - Pat_24_A COSM5853539 c.1963C>A p.Q655K Substitution - Missense 17:76145312-76145312 - TCGA-FW-A3R5-06 COSM3890473 c.1607C>T p.S536F Substitution - Missense 17:76155653-76155653 - 2530678 COSM5853545 c.2269G>A p.A757T Substitution - Missense 17:76167655-76167655 - 824_T COSM3958773 c.386G>C p.R129P Substitution - Missense 17:76167708-76167708 - Pat_06_A COSM5853545 c.2269G>A p.A757T Substitution - Missense 17:76167655-76167655 - CSCC-31-T COSM3522500 c.3008C>T p.S1003L Substitution - Missense 17:76159440-76159440 - TCGA-AA-A00N-01 COSM298787 c.2291A>G p.N764S Substitution - Missense 17:76167109-76167109 - GC8_T COSM148346 c.1837G>T p.A613S Substitution - Missense 17:76173781-76173781 - TCGA-EE-A2MT-06 COSM3522495 c.1596C>T p.V532V Substitution - coding silent 17:76155664-76155664 - PT37 COSM5921232 c.2785C>T p.R929* Substitution - Nonsense 17:76161624-76161624 - TCGA-DA-A1IC-06 COSM3522499 c.1199C>T p.S400L Substitution - Missense 17:76159440-76159440 - HCC099T COSM5816660 c.1334A>T p.H445L Substitution - Missense 17:76158472-76158472 - CHC334T COSM5419773 c.2324G>A p.R775Q Substitution - Missense 17:76167076-76167076 - Pat_29_B COSM5853544 c.439G>A p.A147T Substitution - Missense 17:76167655-76167655 - TCGA-D7-A4YX-01 COSM4069851 c.1892G>A p.R631Q Substitution - Missense 17:76173726-76173726 - TCGA-FW-A3R5-06 COSM3890481 c.1746G>A p.E582E Substitution - coding silent 17:76212445-76212445 - PD6409a COSM5788669 c.1482G>T p.M494I Substitution - Missense 17:76225952-76225952 - TCGA-FW-A3R5-06 COSM3890477 c.414C>T p.A138A Substitution - coding silent 17:76167680-76167680 - TCGA-AM-5820-01 COSM3755883 c.354C>T p.Y118Y Substitution - coding silent 17:76167740-76167740 - ESO-0009 COSM1264353 c.3307C>T p.L1103L Substitution - coding silent 17:76156237-76156237 - PD9002a COSM5779304 c.1547C>T p.T516I Substitution - Missense 17:76225887-76225887 - Pat_24_A COSM5853542 c.953C>T p.P318L Substitution - Missense 17:76161647-76161647 - SNUH_G76_S1 COSM3755884 c.2184C>T p.Y728Y Substitution - coding silent 17:76167740-76167740 - TCGA-AP-A0LM-01 COSM4873268 c.1305-1G>T p.? Unknown 17:76158502-76158502 - C0069T COSM4000303 c.1025T>C p.V342A Substitution - Missense 17:76226409-76226409 - M007 COSM1740337 c.2735G>A p.R912H Substitution - Missense 17:76161842-76161842 - TCGA-CG-5721-01 COSM4069843 c.2642C>T p.T881I Substitution - Missense 17:76161935-76161935 - TCGA-EE-A2MT-06 COSM3522512 c.271T>G p.S91A Substitution - Missense 17:76240186-76240186 - J10_T COSM3958769 c.1304+4A>T p.? Unknown 17:76159331-76159331 - CSCC-27-T COSM4529302 c.231G>A p.T77T Substitution - coding silent 17:76240226-76240226 - TCGA-AB-2827-03 COSM1318452 c.2607C>T p.A869A Substitution - coding silent 17:76161970-76161970 - TCGA-UB-A7MB-01 COSM4932134 c.1695A>G p.G565G Substitution - coding silent 17:76155565-76155565 - TCGA-RA-A741-01 COSM4818821 c.727G>T p.G243W Substitution - Missense 17:76162617-76162617 - RK212_C01 COSM3742452 c.3007T>G p.S1003A Substitution - Missense 17:76159441-76159441 - CSCC-31-T COSM4517950 c.474_475GG>AA p.E159K Substitution - Missense 17:76167095-76167096 - BK0048 COSM4187887 c.260T>A p.L87Q Substitution - Missense 17:76173738-76173738 - TCGA-AD-6964-01 COSM4786425 c.1760C>T p.A587V Substitution - Missense 17:76155256-76155256 - TCGA-AP-A0LM-01 COSM984627 c.1717T>G p.F573V Substitution - Missense 17:76212474-76212474 - TCGA-DW-7838-01 COSM3989349 c.486G>T p.Q162H Substitution - Missense 17:76167084-76167084 - T2643 COSM4722021 c.3113A>C p.K1038T Substitution - Missense 17:76159335-76159335 - CSCC-27-T COSM4516160 c.1638_1639GG>AA p.E547K Substitution - Missense 17:76155621-76155622 - S00472 COSM314844 c.3685A>C p.S1229R Substitution - Missense 17:76152403-76152403 - SNUH_G73_S1 COSM148345 c.3259T>C p.L1087L Substitution - coding silent 17:76156285-76156285 - TCGA-37-4135-01 COSM707155 c.2768G>A p.R923Q Substitution - Missense 17:76161641-76161641 - SC_9092 COSM5573601 c.212C>T p.A71V Substitution - Missense 17:76240245-76240245 - CSCC-62-T COSM4545485 c.2209G>A p.D737N Substitution - Missense 17:76167715-76167715 - J10_T COSM3958770 c.3113+4A>T p.? Unknown 17:76159331-76159331 - TCGA-ER-A199-06 COSM3522503 c.411G>A p.Q137Q Substitution - coding silent 17:76167683-76167683 - TCGA-BH-A18P-01 COSM4813066 c.1382C>T p.S461F Substitution - Missense 17:76158424-76158424 - Pat_24_A COSM5853543 c.2762C>T p.A921V Substitution - Missense 17:76161647-76161647 - T3092 COSM4722023 c.3036C>T p.P1012P Substitution - coding silent 17:76159412-76159412 - SNUH_G10_S1 COSM4000302 c.1195G>A p.E399K Substitution - Missense 17:76226239-76226239 - PCSI_0164_Pa_P_526 COSM3787438 c.601G>A p.G201S Substitution - Missense 17:76226913-76226913 - TCGA-EE-A2MT-06 COSM3522496 c.3405C>T p.V1135V Substitution - coding silent 17:76155664-76155664 - Pat_41_B COSM4271462 c.1798C>T p.P600S Substitution - Missense 17:76154295-76154295 - TCGA-FU-A3HZ-01 COSM4840986 c.2294G>T p.S765I Substitution - Missense 17:76167106-76167106 - LC_S51 COSM1189576 c.2242G>A p.A748T Substitution - Missense 17:76167682-76167682 - PD4115a COSM219483 c.2932G>A p.G978R Substitution - Missense 17:76159516-76159516 - TCGA-AD-6964-01 COSM1386155 c.3569C>T p.A1190V Substitution - Missense 17:76155256-76155256 - TCGA-D1-A16Y-01 COSM4871716 c.1103C>A p.S368Y Substitution - Missense 17:76159536-76159536 - TCGA-43-3920-01 COSM4862991 c.1786G>A p.E596K Substitution - Missense 17:76154307-76154307 - T2269 COSM4722025 c.2303C>T p.S768L Substitution - Missense 17:76167097-76167097 - 8062308 COSM3773287 c.472G>A p.A158T Substitution - Missense 17:76239684-76239684 - TCGA-B5-A0JY-01 COSM4869176 c.457G>T p.D153Y Substitution - Missense 17:76167113-76167113 - TCGA-HU-A4H8-01 COSM4069831 c.3941G>T p.S1314I Substitution - Missense 17:76145290-76145290 - TCGA-AM-5820-01 COSM3755884 c.2184C>T p.Y728Y Substitution - coding silent 17:76167740-76167740 - BK0048 COSM4187888 c.1880T>A p.L627Q Substitution - Missense 17:76173738-76173738 - CHC892T COSM4796280 c.1025C>T p.P342L Substitution - Missense 17:76161575-76161575 - LUAD-NYU1051S COSM368665 c.2441T>A p.V814E Substitution - Missense 17:76166478-76166478 - PD4115a COSM4809591 c.1123G>A p.G375R Substitution - Missense 17:76159516-76159516 - ESCC-098T COSM3937579 c.3556G>A p.G1186R Substitution - Missense 17:76155269-76155269 - Pat_29_B COSM5853545 c.2269G>A p.A757T Substitution - Missense 17:76167655-76167655 - 545 COSM5612863 c.1242G>A p.S414S Substitution - coding silent 17:76159397-76159397 - PT37 COSM5921231 c.976C>T p.R326* Substitution - Nonsense 17:76161624-76161624 - TCGA-23-2643-01 COSM1324838 c.654C>T p.N218N Substitution - coding silent 17:76226780-76226780 - CHC892T COSM4795937 c.1989C>T p.S663S Substitution - coding silent 17:76145286-76145286 - TCGA-RA-A741-01 COSM4818822 c.2509G>T p.G837W Substitution - Missense 17:76162617-76162617 - HCC69 COSM1610807 c.2419T>C p.Y807H Substitution - Missense 17:76166500-76166500 - SNUH_G76_S1 COSM148345 c.3259T>C p.L1087L Substitution - coding silent 17:76156285-76156285 - KM12 COSM4271506 c.191G>T p.G64V Substitution - Missense 17:76212380-76212380 - tumor_4166151 COSM5907703 c.1904C>T p.S635F Substitution - Missense 17:76152372-76152372 - AOCS-060-1-5 COSM4139840 c.478G>A p.V160I Substitution - Missense 17:76239678-76239678 - KM12 COSM1680102 c.1811G>T p.G604V Substitution - Missense 17:76212380-76212380 - C004 COSM5521855 c.2264G>A p.G755D Substitution - Missense 17:76167660-76167660 - CN-AML-NR-08-Dx COSM5426101 c.1002C>T p.P334P Substitution - coding silent 17:76226432-76226432 - 2492723 COSM5722697 c.3285G>T p.Q1095H Substitution - Missense 17:76156259-76156259 - CHC892T COSM4795937 c.1989C>T p.S663S Substitution - coding silent 17:76145286-76145286 - TCGA-EB-A5SG-06 COSM3890475 c.1133C>T p.T378I Substitution - Missense 17:76159506-76159506 - TCGA-D7-A4YX-01 COSM4069850 c.272G>A p.R91Q Substitution - Missense 17:76173726-76173726 - PT08_2 COSM5893947 c.3114-3C>A p.? Unknown 17:76158504-76158504 - CSCC-31-T COSM3522499 c.1199C>T p.S400L Substitution - Missense 17:76159440-76159440 - 2492721 COSM5722697 c.3285G>T p.Q1095H Substitution - Missense 17:76156259-76156259 - BD123T COSM5521114 c.1825G>A p.A609T Substitution - Missense 17:76152451-76152451 - CHC892T COSM4796281 c.2834C>T p.P945L Substitution - Missense 17:76161575-76161575 - YUAKER COSM1710823 c.2130T>G p.C710W Substitution - Missense 17:76167794-76167794 - TCGA-CF-A1HS-01 COSM4812118 c.1438G>A p.E480K Substitution - Missense 17:76156297-76156297 - PCSI_0227_Pa_P_526 COSM4942880 c.1912G>A p.V638I Substitution - Missense 17:76173706-76173706 - 2530678 COSM5853544 c.439G>A p.A147T Substitution - Missense 17:76167655-76167655 - PCSI_0227_Pa_P_526 COSM4942879 c.292G>A p.V98I Substitution - Missense 17:76173706-76173706 - CN-AML-CR-15-Dx COSM5424942 c.1003C>T p.L335L Substitution - coding silent 17:76226431-76226431 - ccRCC-94 COSM1663936 c.1856A>G p.E619G Substitution - Missense 17:76173762-76173762 - pfg127T COSM4757501 c.1253G>A p.R418H Substitution - Missense 17:76159386-76159386 - PT08_1 COSM5893946 c.1305-3C>A p.? Unknown 17:76158504-76158504 - TCGA-BR-6566-01 COSM4069834 c.3451G>A p.G1151R Substitution - Missense 17:76155618-76155618 - SNU-175 COSM2743112 c.1794C>T p.S598S Substitution - coding silent 17:76212397-76212397 - TCGA-E9-A1N9-01 COSM4813811 c.1802C>T p.T601M Substitution - Missense 17:76154291-76154291 - BD165T COSM5505933 c.3903C>T p.A1301A Substitution - coding silent 17:76145328-76145328 - 2492722 COSM5722697 c.3285G>T p.Q1095H Substitution - Missense 17:76156259-76156259 - TCGA-EE-A2MT-06 COSM3522511 c.55T>G p.S19A Substitution - Missense 17:76240186-76240186 - SNUH_G10_S1 COSM4000304 c.894G>T p.M298I Substitution - Missense 17:76226540-76226540 - ESCC_BICR_005T COSM5439120 c.1639G>T p.E547* Substitution - Nonsense 17:76155621-76155621 - TCGA-DR-A0ZM-01 COSM460208 c.2510G>A p.G837E Substitution - Missense 17:76162616-76162616 - Pat_41_B COSM2743059 c.3607C>T p.P1203S Substitution - Missense 17:76154295-76154295 - TCGA-33-4582-01 COSM4860531 c.549G>T p.W183C Substitution - Missense 17:76167021-76167021 - CHC892T COSM4796281 c.2834C>T p.P945L Substitution - Missense 17:76161575-76161575 - TCGA-EE-A2MD-06 COSM3522494 c.3447G>A p.E1149E Substitution - coding silent 17:76155622-76155622 - HCC099T COSM5816661 c.3143A>T p.H1048L Substitution - Missense 17:76158472-76158472 - TCGA-CC-A3MA-01 COSM4942879 c.292G>A p.V98I Substitution - Missense 17:76173706-76173706 - TCGA-HU-A4GT-01 COSM4069838 c.1176C>T p.G392G Substitution - coding silent 17:76159463-76159463 - Pat_06_A COSM5853544 c.439G>A p.A147T Substitution - Missense 17:76167655-76167655 - TCGA-UB-A7MB-01 COSM4932135 c.3504A>G p.G1168G Substitution - coding silent 17:76155565-76155565 - ESCC-098T COSM3937578 c.1747G>A p.G583R Substitution - Missense 17:76155269-76155269 - KPOPBR-07-T COSM5964132 c.2592G>T p.V864V Substitution - coding silent 17:76161985-76161985 - HCT15 COSM4271455 c.1845T>C p.C615C Substitution - coding silent 17:76152431-76152431 - PD4115a COSM4809591 c.1123G>A p.G375R Substitution - Missense 17:76159516-76159516 - TCGA-66-2783-01 COSM4860370 c.1363G>T p.E455* Substitution - Nonsense 17:76158443-76158443 - TCGA-33-4582-01 COSM707154 c.2379G>T p.W793C Substitution - Missense 17:76167021-76167021 - TCGA-BH-A18P-01 COSM437430 c.3191C>T p.S1064F Substitution - Missense 17:76158424-76158424 - Sample_1 COSM4415753 c.1450T>C p.L484L Substitution - coding silent 17:76156285-76156285 - CSCC-49-T COSM4522564 c.1168G>A p.G390R Substitution - Missense 17:76159471-76159471 - TCGA-BR-6566-01 COSM4069833 c.1642G>A p.G548R Substitution - Missense 17:76155618-76155618 - CLL015 COSM1290764 c.3300G>A p.G1100G Substitution - coding silent 17:76156244-76156244 - TCGA-D1-A103-01 COSM984615 c.3518C>T p.A1173V Substitution - Missense 17:76155307-76155307 - PT08_1 COSM5893947 c.3114-3C>A p.? Unknown 17:76158504-76158504 - 2492720 COSM5722697 c.3285G>T p.Q1095H Substitution - Missense 17:76156259-76156259 - KPOPBR-07-T COSM5964131 c.810G>T p.V270V Substitution - coding silent 17:76161985-76161985 - TCGA-EE-A2M5-06 COSM3522497 c.1305-1G>A p.? Unknown 17:76158502-76158502 - CN-AML-08-T COSM5426101 c.1002C>T p.P334P Substitution - coding silent 17:76226432-76226432 - Pat_24_A COSM5853540 c.3919C>A p.Q1307K Substitution - Missense 17:76145312-76145312 - RK212_C01 COSM3742451 c.1198T>G p.S400A Substitution - Missense 17:76159441-76159441 - CHC334T COSM5419772 c.494G>A p.R165Q Substitution - Missense 17:76167076-76167076 - NB-0445 COSM1287653 c.3662A>G p.N1221S Substitution - Missense 17:76152426-76152426 - 545 COSM5612864 c.3051G>A p.S1017S Substitution - coding silent 17:76159397-76159397 - TCGA-DW-7838-01 COSM3989350 c.2316G>T p.Q772H Substitution - Missense 17:76167084-76167084 - TCGA-61-1915-01 COSM1324839 c.1284T>A p.S428R Substitution - Missense 17:76226150-76226150 - YUAKER COSM1710824 c.1849C>T p.P617S Substitution - Missense 17:76173769-76173769 - LC_C26 COSM1189575 c.3403G>A p.V1135I Substitution - Missense 17:76155666-76155666 - Sample_1 COSM148345 c.3259T>C p.L1087L Substitution - coding silent 17:76156285-76156285 - TCGA-AZ-6601-01 COSM4786740 c.1820C>T p.T607M Substitution - Missense 17:76152456-76152456 - SC_9047 COSM5573592 c.443+2T>A p.? Unknown 17:76167649-76167649 - SNUH_G45_S1 COSM4000302 c.1195G>A p.E399K Substitution - Missense 17:76226239-76226239 - TCGA-CG-5721-01 COSM4069835 c.1397T>C p.V466A Substitution - Missense 17:76158409-76158409 - TCGA-39-5028-01 COSM4860616 c.421G>A p.E141K Substitution - Missense 17:76167673-76167673 - BD236T COSM5519513 c.2931C>T p.N977N Substitution - coding silent 17:76159517-76159517 - TCGA-BH-A1FN-01 COSM1480035 c.1709G>A p.G570E Substitution - Missense 17:76212482-76212482 - SNUH_G73_S1 COSM4415753 c.1450T>C p.L484L Substitution - coding silent 17:76156285-76156285 - CSCC-27-T COSM4529301 c.15G>A p.T5T Substitution - coding silent 17:76240226-76240226 - TCGA-66-2785-01 COSM4862028 c.1864G>C p.D622H Substitution - Missense 17:76152412-76152412 - TCGA-EE-A2M5-06 COSM3522498 c.3114-1G>A p.? Unknown 17:76158502-76158502 - ESO-1872 COSM1264354 c.2362G>A p.V788M Substitution - Missense 17:76167038-76167038 - TCGA-EE-A2MD-06 COSM3522493 c.1638G>A p.E546E Substitution - coding silent 17:76155622-76155622 - SNUH_G76_S1 COSM3755883 c.354C>T p.Y118Y Substitution - coding silent 17:76167740-76167740 - PTC-28C COSM4130651 c.3494C>A p.S1165* Substitution - Nonsense 17:76155575-76155575 - 587316 COSM1223916 c.3978G>T p.W1326C Substitution - Missense 17:76145253-76145253 - S00472 COSM5657745 c.1873A>C p.S625R Substitution - Missense 17:76152403-76152403 - TCGA-AN-A0XL-01 COSM437431 c.3176C>T p.S1059L Substitution - Missense 17:76158439-76158439 - TCGA-BQ-7048-01 COSM3989348 c.2581G>T p.E861* Substitution - Nonsense 17:76161996-76161996 - TCGA-B5-A11E-01 COSM984619 c.3106C>A p.L1036I Substitution - Missense 17:76159342-76159342 - YUKLAB COSM1710822 c.2963C>T p.P988L Substitution - Missense 17:76159485-76159485 - pfg127T COSM4757502 c.3062G>A p.R1021H Substitution - Missense 17:76159386-76159386 - TCGA-AP-A059-01 COSM984616 c.3447G>T p.E1149D Substitution - Missense 17:76155622-76155622 - SNUH_G45_S1 COSM4000303 c.1025T>C p.V342A Substitution - Missense 17:76226409-76226409 - SNUH_G76_S1 COSM4415753 c.1450T>C p.L484L Substitution - coding silent 17:76156285-76156285 - TCGA-D1-A103-01 COSM4271464 c.1709C>T p.A570V Substitution - Missense 17:76155307-76155307 - YUMUL COSM5387373 c.452_453CC>TT p.P151L Substitution - Missense 17:76167117-76167118 - TCGA-EB-A5SG-06 COSM3890476 c.2942C>T p.T981I Substitution - Missense 17:76159506-76159506 - TCGA-HU-A4GT-01 COSM4069839 c.2985C>T p.G995G Substitution - coding silent 17:76159463-76159463 - T3092 COSM4722022 c.1227C>T p.P409P Substitution - coding silent 17:76159412-76159412 - ESCC_BICR_005T COSM5439121 c.3448G>T p.E1150* Substitution - Nonsense 17:76155621-76155621 - cSCCP6 COSM137123 c.3983C>T p.P1328L Substitution - Missense 17:76145248-76145248 - TCGA-E9-A1N9-01 COSM1223918 c.3611C>T p.T1204M Substitution - Missense 17:76154291-76154291 - PTC-7C COSM4130652 c.416C>T p.T139M Substitution - Missense 17:76167678-76167678 - QC2-40-T2 COSM5656104 c.1327G>A p.V443M Substitution - Missense 17:76158479-76158479 - SNUH_G73_S1 COSM4000303 c.1025T>C p.V342A Substitution - Missense 17:76226409-76226409 - HCC69T COSM1610807 c.2419T>C p.Y807H Substitution - Missense 17:76166500-76166500 - GC8_T COSM148345 c.3259T>C p.L1087L Substitution - coding silent 17:76156285-76156285 - 2492722 COSM5722696 c.1476G>T p.Q492H Substitution - Missense 17:76156259-76156259 - TCGA-CF-A1HS-01 COSM417979 c.3247G>A p.E1083K Substitution - Missense 17:76156297-76156297 - T3225 COSM2743112 c.1794C>T p.S598S Substitution - coding silent 17:76212397-76212397 - TCGA-23-2079-01 COSM72455 c.3251A>C p.N1084T Substitution - Missense 17:76156293-76156293 - 824_T COSM3958774 c.2216G>C p.R739P Substitution - Missense 17:76167708-76167708 - TCGA-AP-A059-01 COSM4866049 c.1638G>T p.E546D Substitution - Missense 17:76155622-76155622 - CSCC-62-T COSM4545484 c.379G>A p.D127N Substitution - Missense 17:76167715-76167715 - TCGA-ER-A199-06 COSM3522504 c.2241G>A p.Q747Q Substitution - coding silent 17:76167683-76167683 - tumor_4166151 COSM5907704 c.3716C>T p.S1239F Substitution - Missense 17:76152372-76152372 - CSCC-27-T COSM4516161 c.3447_3448GG>AA p.E1150K Substitution - Missense 17:76155621-76155622 - TCGA-AP-A0LM-01 COSM984614 c.3573+1G>A p.? Unknown 17:76155251-76155251 - CSCC-31-T COSM4517951 c.2304_2305GG>AA p.E769K Substitution - Missense 17:76167095-76167096 - TCGA-FU-A3HZ-01 COSM4840985 c.464G>T p.S155I Substitution - Missense 17:76167106-76167106 - SNU-175 COSM4271508 c.174C>T p.S58S Substitution - coding silent 17:76212397-76212397 - TCGA-CG-5721-01 COSM4069842 c.860C>T p.T287I Substitution - Missense 17:76161935-76161935 - PT32 COSM5907704 c.3716C>T p.S1239F Substitution - Missense 17:76152372-76152372 - TCGA-37-4135-01 COSM4859554 c.959G>A p.R320Q Substitution - Missense 17:76161641-76161641 - KM12 COSM1680102 c.1811G>T p.G604V Substitution - Missense 17:76212380-76212380 - PT32 COSM5907703 c.1904C>T p.S635F Substitution - Missense 17:76152372-76152372 - TCGA-B5-A0JY-01 COSM984622 c.2287G>T p.D763Y Substitution - Missense 17:76167113-76167113 - 587342 COSM1223918 c.3611C>T p.T1204M Substitution - Missense 17:76154291-76154291 - 076T COSM1730690 c.3229G>A p.G1077S Substitution - Missense 17:76156315-76156315 - 587278 COSM1223917 c.3911G>A p.R1304Q Substitution - Missense 17:76145320-76145320 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.500643 17q25.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.S19A c.55T>G 17 74236267 CM A G Missense p.C301R c.901T>C 17 74157975 STAD A G Missense p.S635P c.1903T>C 17 74148454 COREAD A G Missense p.V466A c.1397T>C 17 74154490 CM A G Missense p.Y136H c.406T>C 17 74163769 CM A G Synonymous p.N590N c.1770T>C 17 74150404 LUAD C A Missense p.D191Y c.571G>T 17 74162599 SCLC C A Missense p.Q585H c.1755G>T 17 74151342 LUAD C A Missense p.W183C c.549G>T 17 74163102 LUSC C A Nonsense p.E455* c.1363G>T 17 74154524 LUSC CC TT IntronicBlockSubstitution . c.88+13514_88+13515delinsAA 17 74222719 CM C G Missense p.E223Q c.667G>C 17 74161588 HNSC C T Missense p.A147T c.439G>A 17 74163736 THCA C T Missense p.E141K c.421G>A 17 74163754 LUSC C T Missense p.E480K c.1438G>A 17 74152378 BLCA C T Missense p.E596K c.1786G>A 17 74150388 LUSC C T Missense p.G30E c.89G>A 17 74208563 BRCA C T Missense p.R320Q c.959G>A 17 74157722 LUSC C T Missense p.R411K c.1232G>A 17 74155488 LUAD C T Missense p.V178M c.532G>A 17 74163119 ESCA C T SpliceAcceptorSNV . c.1305-1G>A 17 74154583 CM C T Synonymous p.E546E c.1638G>A 17 74151703 CM C T Synonymous p.G497G c.1491G>A 17 74152325 CLL C T Synonymous p.Q137Q c.411G>A 17 74163764 CM G A IntronicSNV . c.89-13579C>T 17 74222142 CM G A IntronicSNV . c.89-13587C>T 17 74222150 CM G A Missense p.P107S c.319C>T 17 74163856 CM G A Missense p.P198S c.592C>T 17 74162578 STAD G A Missense p.P49S c.145C>T 17 74208507 CM G A Missense p.R320W c.958C>T 17 74157723 GBM G A Missense p.S400L c.1199C>T 17 74155521 CM G A Missense p.S456L c.1367C>T 17 74154520 BRCA G A Missense p.S485L c.1454C>T 17 74152362 LUAD G A Missense p.T601M c.1802C>T 17 74150372 BRCA G A Synonymous p.A275A c.825C>T 17 74158051 AML G A Synonymous p.H393H c.1179C>T 17 74155541 CM G A Synonymous p.I90I c.270C>T 17 74169809 CM G A Synonymous p.L500L c.1498C>T 17 74152318 ESCA G A Synonymous p.S336S c.1008C>T 17 74157673 CM G A Synonymous p.V532V c.1596C>T 17 74151745 CM G T Missense p.S368Y c.1103C>A 17 74155617 UCEC G T Missense p.T229N c.686C>A 17 74160863 OV G T Synonymous p.S346S c.1038C>A 17 74157643 LUAD T C 3-UTRSNV . c.2037+1934A>G 17 74139385 HC T C Missense p.N617S c.1850A>G 17 74148507 NB T C Missense p.Y211C c.632A>G 17 74161623 COREAD T C Missense p.Y246C c.737A>G 17 74158688 CM T - Frameshift p.E480Gfs*114 c.1439delA 17 74152377 OV T G 3-UTRSNV . c.2037+1929A>C 17 74139390 HC T G Missense p.N481T c.1442A>C 17 74152374 OV T G Missense p.S625R c.1873A>C 17 74148484 SCLC - T IntronicInsertion . c.629-139dupA 17 74161765 CM