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 BLCA 9 34489412 34489412 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr9:34489412G>C c.353G>C c.(352-354)gGa>gCa p.G118A BLCA 9 34489432 34489432 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr9:34489432G>C c.373G>C c.(373-375)Gat>Cat p.D125H BLCA 9 34493276 34493276 + Missense_Mutation SNP A A G TCGA-5N-A9KM-01A-11D-A42E-08 TCGA-5N-A9KM-10A-01D-A42H-08 g.chr9:34493276A>G c.766A>G c.(766-768)Aaa>Gaa p.K256E BLCA 9 34501151 34501151 + Silent SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 g.chr9:34501151G>A c.1035G>A c.(1033-1035)agG>agA p.R345R BLCA 9 34512190 34512190 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chr9:34512190C>T c.1395C>T c.(1393-1395)ctC>ctT p.L465L BLCA 9 34514409 34514409 + Silent SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 g.chr9:34514409C>T c.1587C>T c.(1585-1587)tcC>tcT p.S529S BLCA 9 34514538 34514538 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 g.chr9:34514538C>G c.1716C>G c.(1714-1716)atC>atG p.I572M BLCA 9 34517360 34517360 + Silent SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr9:34517360C>G c.1896C>G c.(1894-1896)ctC>ctG p.L632L BLCA 9 34517424 34517424 + Missense_Mutation SNP A A G TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr9:34517424A>G c.1960A>G c.(1960-1962)Atc>Gtc p.I654V BLCA 9 34517426 34517426 + Silent SNP C C T TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr9:34517426C>T c.1962C>T c.(1960-1962)atC>atT p.I654I BRCA 9 34483462 34483462 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr9:34483462G>C c.65G>C c.(64-66)aGa>aCa p.R22T BRCA 9 34493197 34493197 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 g.chr9:34493197G>A c.687G>A c.(685-687)gaG>gaA p.E229E BRCA 9 34497159 34497159 + Missense_Mutation SNP G G A TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr9:34497159G>A c.863G>A c.(862-864)cGg>cAg p.R288Q BRCA 9 34500814 34500814 + Silent SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 g.chr9:34500814C>A c.996C>A c.(994-996)cgC>cgA p.R332R BRCA 9 34500839 34500839 + Splice_Site SNP T T G TCGA-E2-A1LL-01A-11D-A142-09 TCGA-E2-A1LL-11A-21D-A142-09 g.chr9:34500839T>G c.e11+2 BRCA 9 34506808 34506808 + Missense_Mutation SNP C C T TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 g.chr9:34506808C>T c.1247C>T c.(1246-1248)cCc>cTc p.P416L BRCA 9 34514447 34514447 + Nonsense_Mutation SNP C C G TCGA-D8-A1JP-01A-11D-A13L-09 TCGA-D8-A1JP-10A-01D-A13O-09 g.chr9:34514447C>G c.1625C>G c.(1624-1626)tCa>tGa p.S542* BRCA 9 34514510 34514510 + Nonsense_Mutation SNP G G A TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 g.chr9:34514510G>A c.1688G>A c.(1687-1689)tGg>tAg p.W563* CESC 9 34500823 34500823 + Silent SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 g.chr9:34500823C>G c.1005C>G c.(1003-1005)gtC>gtG p.V335V CHOL 9 34500833 34500833 + Missense_Mutation SNP T T C TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr9:34500833T>C c.1015T>C c.(1015-1017)Tgc>Cgc p.C339R COAD 9 34489417 34489417 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr9:34489417C>T c.358C>T c.(358-360)Cgg>Tgg p.R120W COAD 9 34489430 34489430 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr9:34489430G>A c.371G>A c.(370-372)cGc>cAc p.R124H COAD 9 34490013 34490013 + Missense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr9:34490013C>A c.392C>A c.(391-393)tCt>tAt p.S131Y COAD 9 34491516 34491516 + Silent SNP T T C TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr9:34491516T>C c.645T>C c.(643-645)ccT>ccC p.P215P COAD 9 34500801 34500801 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr9:34500801A>G c.983A>G c.(982-984)gAc>gGc p.D328G COAD 9 34512401 34512401 + Missense_Mutation SNP G G T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr9:34512401G>T c.1468G>T c.(1468-1470)Ggg>Tgg p.G490W COAD 9 34513116 34513116 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr9:34513116G>A c.1496G>A c.(1495-1497)gGc>gAc p.G499D COAD 9 34514692 34514692 + Silent SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr9:34514692G>A c.1773G>A c.(1771-1773)gcG>gcA p.A591A COAD 9 34514692 34514692 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr9:34514692G>A c.1773G>A c.(1771-1773)gcG>gcA p.A591A COAD 9 34514719 34514719 + Silent SNP A A C TCGA-CM-6676-01A-11D-1835-10 TCGA-CM-6676-10A-01D-1835-10 g.chr9:34514719A>C c.1800A>C c.(1798-1800)gcA>gcC p.A600A COAD 9 34517412 34517412 + Missense_Mutation SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr9:34517412C>T c.1948C>T c.(1948-1950)Cgt>Tgt p.R650C COAD 9 34517451 34517451 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr9:34517451C>T c.1987C>T c.(1987-1989)Cgc>Tgc p.R663C COADREAD 9 34489417 34489417 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr9:34489417C>T c.358C>T c.(358-360)Cgg>Tgg p.R120W COADREAD 9 34489429 34489429 + Missense_Mutation SNP C C T TCGA-AG-3601-01A-01W-0833-10 TCGA-AG-3601-10A-01W-0833-10 g.chr9:34489429C>T c.370C>T c.(370-372)Cgc>Tgc p.R124C COADREAD 9 34489430 34489430 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr9:34489430G>A c.371G>A c.(370-372)cGc>cAc p.R124H COADREAD 9 34490013 34490013 + Missense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr9:34490013C>A c.392C>A c.(391-393)tCt>tAt p.S131Y COADREAD 9 34490025 34490025 + Missense_Mutation SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr9:34490025T>C c.404T>C c.(403-405)gTc>gCc p.V135A COADREAD 9 34490391 34490391 + Missense_Mutation SNP G G C TCGA-DY-A1DF-01A-11D-A152-10 TCGA-DY-A1DF-10A-01D-A152-10 g.chr9:34490391G>C c.526G>C c.(526-528)Gaa>Caa p.E176Q COADREAD 9 34491516 34491516 + Silent SNP T T C TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr9:34491516T>C c.645T>C c.(643-645)ccT>ccC p.P215P COADREAD 9 34500801 34500801 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr9:34500801A>G c.983A>G c.(982-984)gAc>gGc p.D328G COADREAD 9 34512387 34512387 + Missense_Mutation SNP C C T TCGA-AG-A016-01A-01W-A005-10 TCGA-AG-A016-10A-01W-A005-10 g.chr9:34512387C>T c.1454C>T c.(1453-1455)aCg>aTg p.T485M COADREAD 9 34512401 34512401 + Missense_Mutation SNP G G T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr9:34512401G>T c.1468G>T c.(1468-1470)Ggg>Tgg p.G490W COADREAD 9 34513116 34513116 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr9:34513116G>A c.1496G>A c.(1495-1497)gGc>gAc p.G499D COADREAD 9 34514692 34514692 + Silent SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr9:34514692G>A c.1773G>A c.(1771-1773)gcG>gcA p.A591A COADREAD 9 34514692 34514692 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr9:34514692G>A c.1773G>A c.(1771-1773)gcG>gcA p.A591A COADREAD 9 34514719 34514719 + Silent SNP A A C TCGA-CM-6676-01A-11D-1835-10 TCGA-CM-6676-10A-01D-1835-10 g.chr9:34514719A>C c.1800A>C c.(1798-1800)gcA>gcC p.A600A COADREAD 9 34517412 34517412 + Missense_Mutation SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr9:34517412C>T c.1948C>T c.(1948-1950)Cgt>Tgt p.R650C COADREAD 9 34517451 34517451 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr9:34517451C>T c.1987C>T c.(1987-1989)Cgc>Tgc p.R663C ESCA 9 34491532 34491532 + Missense_Mutation SNP T T G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 g.chr9:34491532T>G c.661T>G c.(661-663)Ttt>Gtt p.F221V GBM 9 34489407 34489407 + Missense_Mutation SNP T T A TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 g.chr9:34489407T>A c.348T>A c.(346-348)gaT>gaA p.D116E GBMLGG 9 34489407 34489407 + Missense_Mutation SNP T T A TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 g.chr9:34489407T>A c.348T>A c.(346-348)gaT>gaA p.D116E GBMLGG 9 34493301 34493301 + Missense_Mutation SNP G G A TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 g.chr9:34493301G>A c.791G>A c.(790-792)aGg>aAg p.R264K GBMLGG 9 34514424 34514424 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:34514424C>T c.1602C>T c.(1600-1602)gaC>gaT p.D534D GBMLGG 9 34514457 34514458 + Frame_Shift_Del DEL TG TG - TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 g.chr9:34514457_34514458delTG c.1635_1636delTG c.(1633-1638)actgtgfs p.V546fs GBMLGG 9 34514513 34514513 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:34514513C>T c.1691C>T c.(1690-1692)aCa>aTa p.T564I GBMLGG 9 34514703 34514703 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:34514703C>A c.1784C>A c.(1783-1785)tCt>tAt p.S595Y GBMLGG 9 34517367 34517367 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:34517367G>A c.1903G>A c.(1903-1905)Gtg>Atg p.V635M HNSC 9 34485161 34485161 + Missense_Mutation SNP G G A TCGA-BA-A6D8-01A-31D-A31L-08 TCGA-BA-A6D8-10A-01D-A31J-08 g.chr9:34485161G>A c.103G>A c.(103-105)Gtg>Atg p.V35M HNSC 9 34490414 34490414 + Silent SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 g.chr9:34490414C>A c.549C>A c.(547-549)ccC>ccA p.P183P HNSC 9 34493300 34493300 + Missense_Mutation SNP A A G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 g.chr9:34493300A>G c.790A>G c.(790-792)Agg>Ggg p.R264G HNSC 9 34506628 34506628 + Missense_Mutation SNP A A G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 g.chr9:34506628A>G c.1067A>G c.(1066-1068)gAc>gGc p.D356G HNSC 9 34514718 34514718 + Missense_Mutation SNP C C A TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 g.chr9:34514718C>A c.1799C>A c.(1798-1800)gCa>gAa p.A600E HNSC 9 34517452 34517452 + Missense_Mutation SNP G G A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 g.chr9:34517452G>A c.1988G>A c.(1987-1989)cGc>cAc p.R663H KIPAN 9 34490013 34490013 + Missense_Mutation SNP C C T TCGA-B0-5698-01A-11D-1669-08 TCGA-B0-5698-10A-01D-1669-08 g.chr9:34490013C>T c.392C>T c.(391-393)tCt>tTt p.S131F KIRC 9 34490013 34490013 + Missense_Mutation SNP C C T TCGA-B0-5698-01A-11D-1669-08 TCGA-B0-5698-10A-01D-1669-08 g.chr9:34490013C>T c.392C>T c.(391-393)tCt>tTt p.S131F LAML 9 34506776 34506776 + Silent SNP C C T TCGA-AB-2805-03B-01W-0728-08 TCGA-AB-2805-11B-01W-0728-08 g.chr9:34506776C>T c.1215C>T c.(1213-1215)gaC>gaT p.D405D LAML 9 34514416 34514416 + Missense_Mutation SNP T T C TCGA-AB-2858-03D-01W-0755-09 TCGA-AB-2858-12A-01W-0755-09 g.chr9:34514416T>C c.1594T>C c.(1594-1596)Ttc>Ctc p.F532L LGG 9 34493301 34493301 + Missense_Mutation SNP G G A TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 g.chr9:34493301G>A c.791G>A c.(790-792)aGg>aAg p.R264K LGG 9 34514424 34514424 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:34514424C>T c.1602C>T c.(1600-1602)gaC>gaT p.D534D LGG 9 34514457 34514458 + Frame_Shift_Del DEL TG TG - TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 g.chr9:34514457_34514458delTG c.1635_1636delTG c.(1633-1638)actgtgfs p.V546fs LGG 9 34514513 34514513 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:34514513C>T c.1691C>T c.(1690-1692)aCa>aTa p.T564I LGG 9 34514703 34514703 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:34514703C>A c.1784C>A c.(1783-1785)tCt>tAt p.S595Y LGG 9 34517367 34517367 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:34517367G>A c.1903G>A c.(1903-1905)Gtg>Atg p.V635M LIHC 9 34500786 34500787 + Missense_Mutation DNP GG GG AT TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr9:34500786_34500787GG>AT c.968_969GG>AT c.(967-969)tGG>tAT p.W323Y LIHC 9 34506838 34506838 + Missense_Mutation SNP C C T TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr9:34506838C>T c.1277C>T c.(1276-1278)gCc>gTc p.A426V LIHC 9 34514529 34514529 + Silent SNP C C T TCGA-G3-A5SM-01A-12D-A28X-10 TCGA-G3-A5SM-10A-01D-A28X-10 g.chr9:34514529C>T c.1707C>T c.(1705-1707)gaC>gaT p.D569D LUAD 9 34497158 34497158 + Silent SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 g.chr9:34497158C>A c.862C>A c.(862-864)Cgg>Agg p.R288R LUAD 9 34500817 34500817 + Silent SNP G G T TCGA-73-4677-01A-01D-1265-08 TCGA-73-4677-11A-01D-1265-08 g.chr9:34500817G>T c.999G>T c.(997-999)ctG>ctT p.L333L LUAD 9 34506794 34506794 + Silent SNP C C T TCGA-44-8117-01A-11D-2238-08 TCGA-44-8117-10A-01D-2238-08 g.chr9:34506794C>T c.1233C>T c.(1231-1233)taC>taT p.Y411Y LUAD 9 34514436 34514436 + Silent SNP C C A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 g.chr9:34514436C>A c.1614C>A c.(1612-1614)gcC>gcA p.A538A LUAD 9 34514443 34514443 + Missense_Mutation SNP A A G TCGA-17-Z062-01A-01W-0747-08 TCGA-17-Z062-11A-01W-0747-08 g.chr9:34514443A>G c.1621A>G c.(1621-1623)Atg>Gtg p.M541V LUAD 9 34514476 34514476 + Missense_Mutation SNP C C G TCGA-44-3396-01A-01D-1553-08 TCGA-44-3396-10A-01D-1265-08 g.chr9:34514476C>G c.1654C>G c.(1654-1656)Cac>Gac p.H552D LUSC 9 34493233 34493233 + Missense_Mutation SNP G G C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 g.chr9:34493233G>C c.723G>C c.(721-723)caG>caC p.Q241H LUSC 9 34493264 34493264 + Missense_Mutation SNP A A G TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 g.chr9:34493264A>G c.754A>G c.(754-756)Acc>Gcc p.T252A LUSC 9 34493299 34493299 + Missense_Mutation SNP G G T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr9:34493299G>T c.789G>T c.(787-789)atG>atT p.M263I LUSC 9 34506780 34506780 + Missense_Mutation SNP A A C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 g.chr9:34506780A>C c.1219A>C c.(1219-1221)Aac>Cac p.N407H LUSC 9 34513163 34513163 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr9:34513163G>A c.1543G>A c.(1543-1545)Ggc>Agc p.G515S LUSC 9 34514434 34514434 + Missense_Mutation SNP G G A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 g.chr9:34514434G>A c.1612G>A c.(1612-1614)Gcc>Acc p.A538T LUSC 9 34514727 34514727 + Missense_Mutation SNP C C A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 g.chr9:34514727C>A c.1808C>A c.(1807-1809)aCa>aAa p.T603K PAAD 9 34500719 34500719 + Splice_Site SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr9:34500719G>T c.e11-1 PAAD 9 34506735 34506735 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr9:34506735C>A c.1174C>A c.(1174-1176)Cac>Aac p.H392N PRAD 9 34490062 34490062 + Silent SNP C C T TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 g.chr9:34490062C>T c.441C>T c.(439-441)gaC>gaT p.D147D PRAD 9 34517405 34517405 + Silent SNP C C T TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr9:34517405C>T c.1941C>T c.(1939-1941)ggC>ggT p.G647G PRAD 9 34517406 34517406 + Missense_Mutation SNP G G A TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 g.chr9:34517406G>A c.1942G>A c.(1942-1944)Gat>Aat p.D648N READ 9 34489429 34489429 + Missense_Mutation SNP C C T TCGA-AG-3601-01A-01W-0833-10 TCGA-AG-3601-10A-01W-0833-10 g.chr9:34489429C>T c.370C>T c.(370-372)Cgc>Tgc p.R124C READ 9 34490025 34490025 + Missense_Mutation SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr9:34490025T>C c.404T>C c.(403-405)gTc>gCc p.V135A READ 9 34490391 34490391 + Missense_Mutation SNP G G C TCGA-DY-A1DF-01A-11D-A152-10 TCGA-DY-A1DF-10A-01D-A152-10 g.chr9:34490391G>C c.526G>C c.(526-528)Gaa>Caa p.E176Q READ 9 34512387 34512387 + Missense_Mutation SNP C C T TCGA-AG-A016-01A-01W-A005-10 TCGA-AG-A016-10A-01W-A005-10 g.chr9:34512387C>T c.1454C>T c.(1453-1455)aCg>aTg p.T485M SKCM 9 34485217 34485217 + Silent SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr9:34485217C>T c.159C>T c.(157-159)gaC>gaT p.D53D SKCM 9 34485444 34485444 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr9:34485444G>A c.190G>A c.(190-192)Gag>Aag p.E64K SKCM 9 34490045 34490045 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr9:34490045G>A c.424G>A c.(424-426)Gga>Aga p.G142R SKCM 9 34490046 34490046 + Missense_Mutation SNP G G A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 g.chr9:34490046G>A c.425G>A c.(424-426)gGa>gAa p.G142E SKCM 9 34490385 34490385 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr9:34490385G>A c.520G>A c.(520-522)Gaa>Aaa p.E174K SKCM 9 34491552 34491552 + Splice_Site SNP G G A TCGA-DA-A3F5-06A-11D-A20D-08 TCGA-DA-A3F5-10A-01D-A20D-08 g.chr9:34491552G>A c.681G>A c.(679-681)caG>caA p.Q227Q SKCM 9 34493208 34493208 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr9:34493208C>T c.698C>T c.(697-699)gCc>gTc p.A233V SKCM 9 34497151 34497151 + Silent SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr9:34497151C>T c.855C>T c.(853-855)atC>atT p.I285I SKCM 9 34500829 34500829 + Silent SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr9:34500829C>T c.1011C>T c.(1009-1011)gcC>gcT p.A337A SKCM 9 34506686 34506686 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr9:34506686C>T c.1125C>T c.(1123-1125)ttC>ttT p.F375F SKCM 9 34506728 34506728 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr9:34506728C>T c.1167C>T c.(1165-1167)ctC>ctT p.L389L SKCM 9 34512395 34512395 + Missense_Mutation SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr9:34512395C>T c.1462C>T c.(1462-1464)Cct>Tct p.P488S SKCM 9 34513169 34513169 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr9:34513169G>A c.1549G>A c.(1549-1551)Gag>Aag p.E517K SKCM 9 34513170 34513170 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr9:34513170A>T c.1550A>T c.(1549-1551)gAg>gTg p.E517V SKCM 9 34513176 34513176 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr9:34513176G>A c.1556G>A c.(1555-1557)gGa>gAa p.G519E SKCM 9 34517295 34517295 + Missense_Mutation SNP G G T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 g.chr9:34517295G>T c.1831G>T c.(1831-1833)Gac>Tac p.D611Y SKCM 9 34517343 34517343 + Missense_Mutation SNP G G A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 g.chr9:34517343G>A c.1879G>A c.(1879-1881)Gcc>Acc p.A627T SKCM 9 34517351 34517351 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr9:34517351G>A c.1887G>A c.(1885-1887)aaG>aaA p.K629K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 9 34520703 34520703 single base substitution G A downstream_gene_variant ALL-US 9 34520703 34520703 single base substitution G A synonymous_variant A125A 375G>A ALL-US 9 34520703 34520703 single base substitution G A synonymous_variant A683A 2049G>A ALL-US 9 34521647 34521647 single base substitution T C downstream_gene_variant BLCA-CN 9 34489360 34489360 single base substitution G C downstream_gene_variant BLCA-CN 9 34489360 34489360 single base substitution G C exon_variant BLCA-CN 9 34489360 34489360 single base substitution G C missense_variant A101P 301G>C BLCA-CN 9 34489360 34489360 single base substitution G C missense_variant A90P 268G>C BLCA-CN 9 34489360 34489360 single base substitution G C upstream_gene_variant BLCA-US 9 34489432 34489432 single base substitution G C downstream_gene_variant BLCA-US 9 34489432 34489432 single base substitution G C exon_variant BLCA-US 9 34489432 34489432 single base substitution G C missense_variant D114H 340G>C BLCA-US 9 34489432 34489432 single base substitution G C missense_variant D125H 373G>C BLCA-US 9 34489432 34489432 single base substitution G C upstream_gene_variant BLCA-US 9 34514409 34514409 single base substitution C T exon_variant BLCA-US 9 34514409 34514409 single base substitution C T intron_variant BLCA-US 9 34514409 34514409 single base substitution C T synonymous_variant S32S 96C>T BLCA-US 9 34514409 34514409 single base substitution C T synonymous_variant S529S 1587C>T BLCA-US 9 34514538 34514538 single base substitution C G exon_variant BLCA-US 9 34514538 34514538 single base substitution C G intron_variant BLCA-US 9 34514538 34514538 single base substitution C G missense_variant I572M 1716C>G BLCA-US 9 34514538 34514538 single base substitution C G missense_variant I75M 225C>G BRCA-EU 9 34452711 34452711 single base substitution C G upstream_gene_variant BRCA-EU 9 34453645 34453645 single base substitution C T upstream_gene_variant BRCA-EU 9 34453747 34453747 single base substitution G A upstream_gene_variant BRCA-EU 9 34454452 34454452 deletion of <=200bp A - upstream_gene_variant BRCA-EU 9 34454983 34454983 single base substitution G A upstream_gene_variant BRCA-EU 9 34456191 34456191 insertion of <=200bp - A upstream_gene_variant BRCA-EU 9 34459233 34459233 single base substitution C A intron_variant BRCA-EU 9 34460230 34460230 single base substitution G C intron_variant BRCA-EU 9 34462159 34462159 single base substitution G T intron_variant BRCA-EU 9 34462932 34462935 deletion of <=200bp TTTT - intron_variant BRCA-EU 9 34464573 34464573 single base substitution C G intron_variant BRCA-EU 9 34464716 34464716 single base substitution A G intron_variant BRCA-EU 9 34464871 34464871 single base substitution A T intron_variant BRCA-EU 9 34465711 34465711 single base substitution C G intron_variant BRCA-EU 9 34465964 34465964 single base substitution T C intron_variant BRCA-EU 9 34468534 34468534 single base substitution G C intron_variant BRCA-EU 9 34469371 34469371 single base substitution C A intron_variant BRCA-EU 9 34470997 34470997 single base substitution C G intron_variant BRCA-EU 9 34471274 34471274 single base substitution T A intron_variant BRCA-EU 9 34473053 34473053 single base substitution T C intron_variant BRCA-EU 9 34474212 34474212 single base substitution C T intron_variant BRCA-EU 9 34475194 34475194 single base substitution C A intron_variant BRCA-EU 9 34476885 34476885 single base substitution G C intron_variant BRCA-EU 9 34477476 34477476 single base substitution C T intron_variant BRCA-EU 9 34479343 34479343 single base substitution C G intron_variant BRCA-EU 9 34479393 34479393 single base substitution C G intron_variant BRCA-EU 9 34479573 34479573 single base substitution G C intron_variant BRCA-EU 9 34480230 34480230 single base substitution T C intron_variant BRCA-EU 9 34480230 34480230 single base substitution T C upstream_gene_variant BRCA-EU 9 34481095 34481095 single base substitution C T intron_variant BRCA-EU 9 34481095 34481095 single base substitution C T upstream_gene_variant BRCA-EU 9 34481564 34481564 single base substitution G A intron_variant BRCA-EU 9 34481564 34481564 single base substitution G A upstream_gene_variant BRCA-EU 9 34481824 34481824 single base substitution C A intron_variant BRCA-EU 9 34481824 34481824 single base substitution C A upstream_gene_variant BRCA-EU 9 34482668 34482668 single base substitution C T intron_variant BRCA-EU 9 34482668 34482668 single base substitution C T upstream_gene_variant BRCA-EU 9 34483147 34483147 single base substitution C G intron_variant BRCA-EU 9 34483147 34483147 single base substitution C G upstream_gene_variant BRCA-EU 9 34483525 34483525 insertion of <=200bp - T intron_variant BRCA-EU 9 34483525 34483525 insertion of <=200bp - T upstream_gene_variant BRCA-EU 9 34483788 34483788 single base substitution T G intron_variant BRCA-EU 9 34483788 34483788 single base substitution T G upstream_gene_variant BRCA-EU 9 34486436 34486436 single base substitution C G intron_variant BRCA-EU 9 34486436 34486436 single base substitution C G upstream_gene_variant BRCA-EU 9 34486443 34486443 insertion of <=200bp - A intron_variant BRCA-EU 9 34486443 34486443 insertion of <=200bp - A upstream_gene_variant BRCA-EU 9 34486521 34486521 insertion of <=200bp - A intron_variant BRCA-EU 9 34486521 34486521 insertion of <=200bp - A upstream_gene_variant BRCA-EU 9 34486949 34486949 single base substitution T A intron_variant BRCA-EU 9 34486949 34486949 single base substitution T A upstream_gene_variant BRCA-EU 9 34490919 34490919 single base substitution T C downstream_gene_variant BRCA-EU 9 34490919 34490919 single base substitution T C intron_variant BRCA-EU 9 34490919 34490919 single base substitution T C upstream_gene_variant BRCA-EU 9 34493350 34493350 single base substitution C A downstream_gene_variant BRCA-EU 9 34493350 34493350 single base substitution C A intron_variant BRCA-EU 9 34493717 34493724 deletion of <=200bp TTTTTCAC - downstream_gene_variant BRCA-EU 9 34493717 34493724 deletion of <=200bp TTTTTCAC - intron_variant BRCA-EU 9 34496316 34496316 single base substitution G C downstream_gene_variant BRCA-EU 9 34496316 34496316 single base substitution G C intron_variant BRCA-EU 9 34498506 34498506 single base substitution C T downstream_gene_variant BRCA-EU 9 34498506 34498506 single base substitution C T intron_variant BRCA-EU 9 34499875 34499875 single base substitution G C downstream_gene_variant BRCA-EU 9 34499875 34499875 single base substitution G C intron_variant BRCA-EU 9 34501665 34501665 single base substitution G A downstream_gene_variant BRCA-EU 9 34501665 34501665 single base substitution G A intron_variant BRCA-EU 9 34501665 34501665 single base substitution G A upstream_gene_variant BRCA-EU 9 34502370 34502370 single base substitution G A intron_variant BRCA-EU 9 34502370 34502370 single base substitution G A upstream_gene_variant BRCA-EU 9 34502405 34502405 single base substitution C G intron_variant BRCA-EU 9 34502405 34502405 single base substitution C G upstream_gene_variant BRCA-EU 9 34502681 34502681 single base substitution G T intron_variant BRCA-EU 9 34502681 34502681 single base substitution G T upstream_gene_variant BRCA-EU 9 34503171 34503171 single base substitution C G intron_variant BRCA-EU 9 34503171 34503171 single base substitution C G upstream_gene_variant BRCA-EU 9 34506846 34506846 single base substitution G A exon_variant BRCA-EU 9 34506846 34506846 single base substitution G A missense_variant G429S 1285G>A BRCA-EU 9 34509836 34509837 deletion of <=200bp AA - intron_variant BRCA-EU 9 34509836 34509837 deletion of <=200bp AA - upstream_gene_variant BRCA-EU 9 34509892 34509892 single base substitution C G intron_variant BRCA-EU 9 34509892 34509892 single base substitution C G upstream_gene_variant BRCA-EU 9 34511608 34511629 deletion of <=200bp ACTTCATATGTGCAATGTTCTG - intron_variant BRCA-EU 9 34511608 34511629 deletion of <=200bp ACTTCATATGTGCAATGTTCTG - upstream_gene_variant BRCA-EU 9 34512211 34512211 single base substitution G C intron_variant BRCA-EU 9 34512211 34512211 single base substitution G C upstream_gene_variant BRCA-EU 9 34512752 34512760 deletion of <=200bp TATGCAGAC - intron_variant BRCA-EU 9 34512752 34512760 deletion of <=200bp TATGCAGAC - upstream_gene_variant BRCA-EU 9 34513859 34513859 single base substitution G T intron_variant BRCA-EU 9 34514433 34514433 single base substitution C T exon_variant BRCA-EU 9 34514433 34514433 single base substitution C T intron_variant BRCA-EU 9 34514433 34514433 single base substitution C T synonymous_variant D40D 120C>T BRCA-EU 9 34514433 34514433 single base substitution C T synonymous_variant D537D 1611C>T BRCA-EU 9 34515499 34515499 single base substitution G A intron_variant BRCA-EU 9 34515990 34515990 insertion of <=200bp - A intron_variant BRCA-EU 9 34516415 34516415 single base substitution A G intron_variant BRCA-EU 9 34517037 34517037 single base substitution C T intron_variant BRCA-EU 9 34517075 34517075 single base substitution A T intron_variant BRCA-EU 9 34517264 34517264 single base substitution G C intron_variant BRCA-EU 9 34518563 34518563 single base substitution T G downstream_gene_variant BRCA-EU 9 34518563 34518563 single base substitution T G intron_variant BRCA-EU 9 34519082 34519082 single base substitution G A downstream_gene_variant BRCA-EU 9 34519082 34519082 single base substitution G A intron_variant BRCA-EU 9 34519702 34519702 single base substitution T A downstream_gene_variant BRCA-EU 9 34519702 34519702 single base substitution T A intron_variant BRCA-EU 9 34520035 34520035 single base substitution C G downstream_gene_variant BRCA-EU 9 34520035 34520035 single base substitution C G intron_variant BRCA-EU 9 34520377 34520377 single base substitution G T downstream_gene_variant BRCA-EU 9 34520377 34520377 single base substitution G T intron_variant BRCA-EU 9 34522218 34522218 single base substitution C T downstream_gene_variant BRCA-EU 9 34524007 34524007 single base substitution C A downstream_gene_variant BRCA-EU 9 34524225 34524225 single base substitution T C downstream_gene_variant BRCA-EU 9 34525314 34525314 deletion of <=200bp A - downstream_gene_variant BRCA-EU 9 34525544 34525544 single base substitution C T downstream_gene_variant BRCA-FR 9 34455003 34455003 single base substitution C T upstream_gene_variant BRCA-FR 9 34476885 34476885 single base substitution G C intron_variant BRCA-FR 9 34483147 34483147 single base substitution C G intron_variant BRCA-FR 9 34483147 34483147 single base substitution C G upstream_gene_variant BRCA-FR 9 34492365 34492365 single base substitution C G downstream_gene_variant BRCA-FR 9 34492365 34492365 single base substitution C G intron_variant BRCA-FR 9 34493350 34493350 single base substitution C A downstream_gene_variant BRCA-FR 9 34493350 34493350 single base substitution C A intron_variant BRCA-FR 9 34501665 34501665 single base substitution G A downstream_gene_variant BRCA-FR 9 34501665 34501665 single base substitution G A intron_variant BRCA-FR 9 34501665 34501665 single base substitution G A upstream_gene_variant BRCA-FR 9 34509559 34509559 single base substitution C T intron_variant BRCA-FR 9 34509559 34509559 single base substitution C T upstream_gene_variant BRCA-FR 9 34517032 34517032 single base substitution C T intron_variant BRCA-FR 9 34523295 34523295 single base substitution G T downstream_gene_variant BRCA-UK 9 34480230 34480230 single base substitution T C intron_variant BRCA-UK 9 34480230 34480230 single base substitution T C upstream_gene_variant BRCA-UK 9 34487032 34487032 single base substitution G C intron_variant BRCA-UK 9 34487032 34487032 single base substitution G C upstream_gene_variant BRCA-UK 9 34498506 34498506 single base substitution C T downstream_gene_variant BRCA-UK 9 34498506 34498506 single base substitution C T intron_variant BRCA-UK 9 34517075 34517075 single base substitution A T intron_variant BRCA-UK 9 34520035 34520035 single base substitution C G downstream_gene_variant BRCA-UK 9 34520035 34520035 single base substitution C G intron_variant BRCA-US 9 34483462 34483462 single base substitution G C exon_variant BRCA-US 9 34483462 34483462 single base substitution G C intron_variant BRCA-US 9 34483462 34483462 single base substitution G C missense_variant R22T 65G>C BRCA-US 9 34483462 34483462 single base substitution G C upstream_gene_variant BRCA-US 9 34493197 34493197 single base substitution G A downstream_gene_variant BRCA-US 9 34493197 34493197 single base substitution G A exon_variant BRCA-US 9 34493197 34493197 single base substitution G A synonymous_variant E218E 654G>A BRCA-US 9 34493197 34493197 single base substitution G A synonymous_variant E229E 687G>A BRCA-US 9 34497159 34497159 single base substitution G A downstream_gene_variant BRCA-US 9 34497159 34497159 single base substitution G A missense_variant R277Q 830G>A BRCA-US 9 34497159 34497159 single base substitution G A missense_variant R288Q 863G>A BRCA-US 9 34500814 34500814 single base substitution C A downstream_gene_variant BRCA-US 9 34500814 34500814 single base substitution C A synonymous_variant R332R 996C>A BRCA-US 9 34500839 34500839 single base substitution T G downstream_gene_variant BRCA-US 9 34500839 34500839 single base substitution T G splice_donor_variant BRCA-US 9 34506808 34506808 single base substitution C T exon_variant BRCA-US 9 34506808 34506808 single base substitution C T missense_variant P416L 1247C>T BRCA-US 9 34514447 34514447 single base substitution C G exon_variant BRCA-US 9 34514447 34514447 single base substitution C G intron_variant BRCA-US 9 34514447 34514447 single base substitution C G stop_gained S45* 134C>G BRCA-US 9 34514447 34514447 single base substitution C G stop_gained S542* 1625C>G BRCA-US 9 34514510 34514510 single base substitution G A exon_variant BRCA-US 9 34514510 34514510 single base substitution G A intron_variant BRCA-US 9 34514510 34514510 single base substitution G A stop_gained W563* 1688G>A BRCA-US 9 34514510 34514510 single base substitution G A stop_gained W66* 197G>A BRCA-US 9 34514628 34514628 single base substitution A C exon_variant BRCA-US 9 34514628 34514628 single base substitution A C intron_variant BTCA-JP 9 34483512 34483512 single base substitution G T intron_variant BTCA-JP 9 34483512 34483512 single base substitution G T upstream_gene_variant BTCA-JP 9 34485214 34485214 single base substitution T G exon_variant BTCA-JP 9 34485214 34485214 single base substitution T G synonymous_variant P41P 123T>G BTCA-JP 9 34485214 34485214 single base substitution T G synonymous_variant P52P 156T>G BTCA-JP 9 34485482 34485482 single base substitution C T exon_variant BTCA-JP 9 34485482 34485482 single base substitution C T synonymous_variant H65H 195C>T BTCA-JP 9 34485482 34485482 single base substitution C T synonymous_variant H76H 228C>T BTCA-JP 9 34489479 34489479 single base substitution C A downstream_gene_variant BTCA-JP 9 34489479 34489479 single base substitution C A intron_variant BTCA-JP 9 34489479 34489479 single base substitution C A upstream_gene_variant BTCA-JP 9 34491402 34491402 single base substitution A C downstream_gene_variant BTCA-JP 9 34491402 34491402 single base substitution A C exon_variant BTCA-JP 9 34491402 34491402 single base substitution A C intron_variant BTCA-JP 9 34493296 34493296 single base substitution C T downstream_gene_variant BTCA-JP 9 34493296 34493296 single base substitution C T exon_variant BTCA-JP 9 34493296 34493296 single base substitution C T synonymous_variant A251A 753C>T BTCA-JP 9 34493296 34493296 single base substitution C T synonymous_variant A262A 786C>T BTCA-JP 9 34506776 34506776 single base substitution C T exon_variant BTCA-JP 9 34506776 34506776 single base substitution C T synonymous_variant D405D 1215C>T BTCA-JP 9 34512304 34512304 deletion of <=200bp C - intron_variant BTCA-JP 9 34512304 34512304 deletion of <=200bp C - upstream_gene_variant CESC-US 9 34500823 34500823 single base substitution C G downstream_gene_variant CESC-US 9 34500823 34500823 single base substitution C G synonymous_variant V335V 1005C>G CESC-US 9 34521558 34521558 single base substitution C T downstream_gene_variant CESC-US 9 34521603 34521603 single base substitution A T downstream_gene_variant CLLE-ES 9 34464553 34464553 single base substitution T A intron_variant CLLE-ES 9 34474459 34474459 single base substitution C T intron_variant CLLE-ES 9 34482301 34482301 single base substitution T C intron_variant CLLE-ES 9 34482301 34482301 single base substitution T C upstream_gene_variant CLLE-ES 9 34518535 34518535 single base substitution G A downstream_gene_variant CLLE-ES 9 34518535 34518535 single base substitution G A intron_variant CLLE-ES 9 34519026 34519026 single base substitution A G downstream_gene_variant CLLE-ES 9 34519026 34519026 single base substitution A G intron_variant CLLE-ES 9 34520823 34520823 single base substitution C A 3_prime_UTR_variant CLLE-ES 9 34520823 34520823 single base substitution C A downstream_gene_variant COAD-US 9 34489417 34489417 single base substitution C T downstream_gene_variant COAD-US 9 34489417 34489417 single base substitution C T exon_variant COAD-US 9 34489417 34489417 single base substitution C T missense_variant R109W 325C>T COAD-US 9 34489417 34489417 single base substitution C T missense_variant R120W 358C>T COAD-US 9 34489417 34489417 single base substitution C T upstream_gene_variant COAD-US 9 34490013 34490013 single base substitution C A downstream_gene_variant COAD-US 9 34490013 34490013 single base substitution C A exon_variant COAD-US 9 34490013 34490013 single base substitution C A missense_variant S120Y 359C>A COAD-US 9 34490013 34490013 single base substitution C A missense_variant S131Y 392C>A COAD-US 9 34490013 34490013 single base substitution C A upstream_gene_variant COAD-US 9 34512401 34512401 single base substitution G T exon_variant COAD-US 9 34512401 34512401 single base substitution G T missense_variant G490W 1468G>T COAD-US 9 34512401 34512401 single base substitution G T upstream_gene_variant COAD-US 9 34513144 34513144 single base substitution T C exon_variant COAD-US 9 34513144 34513144 single base substitution T C synonymous_variant I11I 33T>C COAD-US 9 34513144 34513144 single base substitution T C synonymous_variant I508I 1524T>C COAD-US 9 34514421 34514421 single base substitution C T exon_variant COAD-US 9 34514421 34514421 single base substitution C T intron_variant COAD-US 9 34514421 34514421 single base substitution C T synonymous_variant L36L 108C>T COAD-US 9 34514421 34514421 single base substitution C T synonymous_variant L533L 1599C>T COAD-US 9 34517412 34517412 single base substitution C T 3_prime_UTR_variant COAD-US 9 34517412 34517412 single base substitution C T exon_variant COAD-US 9 34517412 34517412 single base substitution C T intron_variant COAD-US 9 34517412 34517412 single base substitution C T missense_variant R650C 1948C>T COAD-US 9 34517451 34517451 single base substitution C T 3_prime_UTR_variant COAD-US 9 34517451 34517451 single base substitution C T exon_variant COAD-US 9 34517451 34517451 single base substitution C T intron_variant COAD-US 9 34517451 34517451 single base substitution C T missense_variant R663C 1987C>T COAD-US 9 34521660 34521660 single base substitution C T downstream_gene_variant COCA-CN 9 34466054 34466054 single base substitution G A intron_variant COCA-CN 9 34467119 34467119 single base substitution A G intron_variant COCA-CN 9 34470278 34470278 single base substitution C A intron_variant COCA-CN 9 34477924 34477924 single base substitution T C intron_variant COCA-CN 9 34482577 34482577 single base substitution T C intron_variant COCA-CN 9 34482577 34482577 single base substitution T C upstream_gene_variant COCA-CN 9 34485646 34485646 single base substitution C T intron_variant COCA-CN 9 34489437 34489437 single base substitution A G downstream_gene_variant COCA-CN 9 34489437 34489437 single base substitution A G exon_variant COCA-CN 9 34489437 34489437 single base substitution A G synonymous_variant E115E 345A>G COCA-CN 9 34489437 34489437 single base substitution A G synonymous_variant E126E 378A>G COCA-CN 9 34489437 34489437 single base substitution A G upstream_gene_variant COCA-CN 9 34490347 34490347 single base substitution C A downstream_gene_variant COCA-CN 9 34490347 34490347 single base substitution C A intron_variant COCA-CN 9 34490347 34490347 single base substitution C A upstream_gene_variant COCA-CN 9 34491327 34491327 single base substitution G A downstream_gene_variant COCA-CN 9 34491327 34491327 single base substitution G A intron_variant COCA-CN 9 34491327 34491327 single base substitution G A upstream_gene_variant COCA-CN 9 34491592 34491592 single base substitution C T downstream_gene_variant COCA-CN 9 34491592 34491592 single base substitution C T intron_variant COCA-CN 9 34496188 34496188 single base substitution C T downstream_gene_variant COCA-CN 9 34496188 34496188 single base substitution C T intron_variant COCA-CN 9 34496271 34496271 single base substitution C T downstream_gene_variant COCA-CN 9 34496271 34496271 single base substitution C T intron_variant COCA-CN 9 34506782 34506782 single base substitution C T exon_variant COCA-CN 9 34506782 34506782 single base substitution C T synonymous_variant N407N 1221C>T COCA-CN 9 34506866 34506866 single base substitution G A exon_variant COCA-CN 9 34506866 34506866 single base substitution G A synonymous_variant V435V 1305G>A COCA-CN 9 34514385 34514385 single base substitution C T intron_variant COCA-CN 9 34514385 34514385 single base substitution C T splice_region_variant COCA-CN 9 34514701 34514702 deletion of <=200bp TT - 3_prime_UTR_variant COCA-CN 9 34514701 34514702 deletion of <=200bp TT - exon_variant COCA-CN 9 34514701 34514702 deletion of <=200bp TT - frameshift_variant SS594 COCA-CN 9 34514701 34514702 deletion of <=200bp TT - frameshift_variant SS97 EOPC-DE 9 34495956 34495956 single base substitution C T downstream_gene_variant EOPC-DE 9 34495956 34495956 single base substitution C T intron_variant ESAD-UK 9 34458624 34458624 single base substitution A C intron_variant ESAD-UK 9 34458624 34458624 single base substitution A C upstream_gene_variant ESAD-UK 9 34459092 34459092 single base substitution C T intron_variant ESAD-UK 9 34461420 34461420 single base substitution C T intron_variant ESAD-UK 9 34465650 34465650 single base substitution T G intron_variant ESAD-UK 9 34468370 34468370 single base substitution G A intron_variant ESAD-UK 9 34470895 34470895 single base substitution C T intron_variant ESAD-UK 9 34471616 34471616 single base substitution A C intron_variant ESAD-UK 9 34473154 34473154 single base substitution T G intron_variant ESAD-UK 9 34473900 34473900 single base substitution T A intron_variant ESAD-UK 9 34474181 34474181 single base substitution G A intron_variant ESAD-UK 9 34477190 34477190 single base substitution A T intron_variant ESAD-UK 9 34478714 34478714 single base substitution T G intron_variant ESAD-UK 9 34480554 34480554 single base substitution C T intron_variant ESAD-UK 9 34480554 34480554 single base substitution C T upstream_gene_variant ESAD-UK 9 34480577 34480577 single base substitution G T intron_variant ESAD-UK 9 34480577 34480577 single base substitution G T upstream_gene_variant ESAD-UK 9 34480579 34480579 single base substitution T A intron_variant ESAD-UK 9 34480579 34480579 single base substitution T A upstream_gene_variant ESAD-UK 9 34481723 34481723 single base substitution C T intron_variant ESAD-UK 9 34481723 34481723 single base substitution C T upstream_gene_variant ESAD-UK 9 34482801 34482801 single base substitution G A intron_variant ESAD-UK 9 34482801 34482801 single base substitution G A upstream_gene_variant ESAD-UK 9 34483074 34483074 single base substitution C T intron_variant ESAD-UK 9 34483074 34483074 single base substitution C T upstream_gene_variant ESAD-UK 9 34483525 34483525 deletion of <=200bp T - intron_variant ESAD-UK 9 34483525 34483525 deletion of <=200bp T - upstream_gene_variant ESAD-UK 9 34484172 34484172 single base substitution C T intron_variant ESAD-UK 9 34484172 34484172 single base substitution C T upstream_gene_variant ESAD-UK 9 34484317 34484317 single base substitution T G intron_variant ESAD-UK 9 34484317 34484317 single base substitution T G upstream_gene_variant ESAD-UK 9 34486521 34486521 deletion of <=200bp A - intron_variant ESAD-UK 9 34486521 34486521 deletion of <=200bp A - upstream_gene_variant ESAD-UK 9 34487516 34487516 single base substitution G A intron_variant ESAD-UK 9 34487516 34487516 single base substitution G A upstream_gene_variant ESAD-UK 9 34487597 34487597 single base substitution C T intron_variant ESAD-UK 9 34487597 34487597 single base substitution C T upstream_gene_variant ESAD-UK 9 34489426 34489426 single base substitution T C downstream_gene_variant ESAD-UK 9 34489426 34489426 single base substitution T C exon_variant ESAD-UK 9 34489426 34489426 single base substitution T C missense_variant Y112H 334T>C ESAD-UK 9 34489426 34489426 single base substitution T C missense_variant Y123H 367T>C ESAD-UK 9 34489426 34489426 single base substitution T C upstream_gene_variant ESAD-UK 9 34489511 34489511 single base substitution A G downstream_gene_variant ESAD-UK 9 34489511 34489511 single base substitution A G intron_variant ESAD-UK 9 34489511 34489511 single base substitution A G upstream_gene_variant ESAD-UK 9 34491504 34491504 single base substitution C T downstream_gene_variant ESAD-UK 9 34491504 34491504 single base substitution C T exon_variant ESAD-UK 9 34491504 34491504 single base substitution C T synonymous_variant C200C 600C>T ESAD-UK 9 34491504 34491504 single base substitution C T synonymous_variant C211C 633C>T ESAD-UK 9 34491725 34491725 single base substitution G A downstream_gene_variant ESAD-UK 9 34491725 34491725 single base substitution G A intron_variant ESAD-UK 9 34491957 34491957 single base substitution C T downstream_gene_variant ESAD-UK 9 34491957 34491957 single base substitution C T intron_variant ESAD-UK 9 34493638 34493638 single base substitution G A downstream_gene_variant ESAD-UK 9 34493638 34493638 single base substitution G A intron_variant ESAD-UK 9 34493650 34493650 single base substitution G A downstream_gene_variant ESAD-UK 9 34493650 34493650 single base substitution G A intron_variant ESAD-UK 9 34494129 34494129 single base substitution G C downstream_gene_variant ESAD-UK 9 34494129 34494129 single base substitution G C intron_variant ESAD-UK 9 34494985 34494985 single base substitution G A downstream_gene_variant ESAD-UK 9 34494985 34494985 single base substitution G A intron_variant ESAD-UK 9 34495786 34495786 single base substitution G A downstream_gene_variant ESAD-UK 9 34495786 34495786 single base substitution G A intron_variant ESAD-UK 9 34497469 34497469 single base substitution A C downstream_gene_variant ESAD-UK 9 34497469 34497469 single base substitution A C intron_variant ESAD-UK 9 34497853 34497853 single base substitution G A downstream_gene_variant ESAD-UK 9 34497853 34497853 single base substitution G A intron_variant ESAD-UK 9 34500210 34500210 single base substitution T G downstream_gene_variant ESAD-UK 9 34500210 34500210 single base substitution T G intron_variant ESAD-UK 9 34500542 34500542 single base substitution A T downstream_gene_variant ESAD-UK 9 34500542 34500542 single base substitution A T intron_variant ESAD-UK 9 34500841 34500841 single base substitution A C downstream_gene_variant ESAD-UK 9 34500841 34500841 single base substitution A C splice_region_variant ESAD-UK 9 34501032 34501032 single base substitution G A downstream_gene_variant ESAD-UK 9 34501032 34501032 single base substitution G A intron_variant ESAD-UK 9 34503102 34503102 single base substitution A T intron_variant ESAD-UK 9 34503102 34503102 single base substitution A T upstream_gene_variant ESAD-UK 9 34503611 34503611 single base substitution G T intron_variant ESAD-UK 9 34503611 34503611 single base substitution G T upstream_gene_variant ESAD-UK 9 34508016 34508016 single base substitution G T intron_variant ESAD-UK 9 34511210 34511210 single base substitution G A intron_variant ESAD-UK 9 34511210 34511210 single base substitution G A upstream_gene_variant ESAD-UK 9 34513042 34513042 single base substitution A C intron_variant ESAD-UK 9 34513042 34513042 single base substitution A C upstream_gene_variant ESAD-UK 9 34513084 34513084 single base substitution A G intron_variant ESAD-UK 9 34513084 34513084 single base substitution A G upstream_gene_variant ESAD-UK 9 34513334 34513334 single base substitution T C intron_variant ESAD-UK 9 34513683 34513683 single base substitution T C intron_variant ESAD-UK 9 34514433 34514433 single base substitution C T exon_variant ESAD-UK 9 34514433 34514433 single base substitution C T intron_variant ESAD-UK 9 34514433 34514433 single base substitution C T synonymous_variant D40D 120C>T ESAD-UK 9 34514433 34514433 single base substitution C T synonymous_variant D537D 1611C>T ESAD-UK 9 34514918 34514918 single base substitution C T intron_variant ESAD-UK 9 34514974 34514974 single base substitution G T intron_variant ESAD-UK 9 34516895 34516895 single base substitution G A intron_variant ESAD-UK 9 34517360 34517360 single base substitution C T 3_prime_UTR_variant ESAD-UK 9 34517360 34517360 single base substitution C T exon_variant ESAD-UK 9 34517360 34517360 single base substitution C T intron_variant ESAD-UK 9 34517360 34517360 single base substitution C T synonymous_variant L632L 1896C>T ESAD-UK 9 34518548 34518548 single base substitution C T downstream_gene_variant ESAD-UK 9 34518548 34518548 single base substitution C T intron_variant ESAD-UK 9 34519291 34519291 single base substitution G A downstream_gene_variant ESAD-UK 9 34519291 34519291 single base substitution G A intron_variant ESAD-UK 9 34522088 34522088 single base substitution C T downstream_gene_variant ESCA-CN 9 34485448 34485448 single base substitution A T exon_variant ESCA-CN 9 34485448 34485448 single base substitution A T missense_variant E54V 161A>T ESCA-CN 9 34485448 34485448 single base substitution A T missense_variant E65V 194A>T ESCA-CN 9 34500822 34500822 single base substitution T A downstream_gene_variant ESCA-CN 9 34500822 34500822 single base substitution T A missense_variant V335D 1004T>A ESCA-CN 9 34521478 34521478 single base substitution G A downstream_gene_variant ESCA-CN 9 34521547 34521547 single base substitution G A downstream_gene_variant GBM-US 9 34489407 34489407 single base substitution T A downstream_gene_variant GBM-US 9 34489407 34489407 single base substitution T A exon_variant GBM-US 9 34489407 34489407 single base substitution T A missense_variant D105E 315T>A GBM-US 9 34489407 34489407 single base substitution T A missense_variant D116E 348T>A GBM-US 9 34489407 34489407 single base substitution T A upstream_gene_variant KIRC-US 9 34490013 34490013 single base substitution C T downstream_gene_variant KIRC-US 9 34490013 34490013 single base substitution C T exon_variant KIRC-US 9 34490013 34490013 single base substitution C T missense_variant S120F 359C>T KIRC-US 9 34490013 34490013 single base substitution C T missense_variant S131F 392C>T KIRC-US 9 34490013 34490013 single base substitution C T upstream_gene_variant KIRC-US 9 34514473 34514473 single base substitution T C exon_variant KIRC-US 9 34514473 34514473 single base substitution T C intron_variant KIRC-US 9 34514473 34514473 single base substitution T C missense_variant Y54H 160T>C KIRC-US 9 34514473 34514473 single base substitution T C missense_variant Y551H 1651T>C LAML-KR 9 34482149 34482149 single base substitution T C intron_variant LAML-KR 9 34482149 34482149 single base substitution T C upstream_gene_variant LAML-KR 9 34482479 34482479 single base substitution T C intron_variant LAML-KR 9 34482479 34482479 single base substitution T C upstream_gene_variant LAML-KR 9 34482577 34482577 single base substitution T C intron_variant LAML-KR 9 34482577 34482577 single base substitution T C upstream_gene_variant LAML-KR 9 34491518 34491518 single base substitution C T downstream_gene_variant LAML-KR 9 34491518 34491518 single base substitution C T exon_variant LAML-KR 9 34491518 34491518 single base substitution C T missense_variant P205L 614C>T LAML-KR 9 34491518 34491518 single base substitution C T missense_variant P216L 647C>T LICA-FR 9 34489431 34489431 single base substitution C T downstream_gene_variant LICA-FR 9 34489431 34489431 single base substitution C T exon_variant LICA-FR 9 34489431 34489431 single base substitution C T synonymous_variant R113R 339C>T LICA-FR 9 34489431 34489431 single base substitution C T synonymous_variant R124R 372C>T LICA-FR 9 34489431 34489431 single base substitution C T upstream_gene_variant LICA-FR 9 34490059 34490059 single base substitution A G downstream_gene_variant LICA-FR 9 34490059 34490059 single base substitution A G exon_variant LICA-FR 9 34490059 34490059 single base substitution A G synonymous_variant E135E 405A>G LICA-FR 9 34490059 34490059 single base substitution A G synonymous_variant E146E 438A>G LICA-FR 9 34490059 34490059 single base substitution A G upstream_gene_variant LICA-FR 9 34516437 34516437 single base substitution G C intron_variant LIHC-US 9 34506717 34506717 single base substitution G A exon_variant LIHC-US 9 34506717 34506717 single base substitution G A missense_variant V386I 1156G>A LIHC-US 9 34514529 34514529 single base substitution C T exon_variant LIHC-US 9 34514529 34514529 single base substitution C T intron_variant LIHC-US 9 34514529 34514529 single base substitution C T synonymous_variant D569D 1707C>T LIHC-US 9 34514529 34514529 single base substitution C T synonymous_variant D72D 216C>T LINC-JP 9 34456448 34456448 single base substitution T C upstream_gene_variant LINC-JP 9 34473834 34473834 single base substitution C T intron_variant LINC-JP 9 34483525 34483525 deletion of <=200bp T - intron_variant LINC-JP 9 34483525 34483525 deletion of <=200bp T - upstream_gene_variant LINC-JP 9 34485337 34485337 single base substitution G A intron_variant LINC-JP 9 34486138 34486138 single base substitution T C intron_variant LINC-JP 9 34503800 34503800 single base substitution G A intron_variant LINC-JP 9 34503800 34503800 single base substitution G A upstream_gene_variant LINC-JP 9 34513009 34513009 single base substitution C T intron_variant LINC-JP 9 34513009 34513009 single base substitution C T upstream_gene_variant LINC-JP 9 34514383 34514383 single base substitution C T intron_variant LINC-JP 9 34521402 34521402 single base substitution T G downstream_gene_variant LINC-JP 9 34523274 34523274 single base substitution A G downstream_gene_variant LIRI-JP 9 34457042 34457042 single base substitution C T upstream_gene_variant LIRI-JP 9 34463841 34463841 single base substitution T A intron_variant LIRI-JP 9 34465628 34465628 single base substitution T C intron_variant LIRI-JP 9 34467385 34467385 single base substitution T G intron_variant LIRI-JP 9 34468567 34468567 single base substitution T C intron_variant LIRI-JP 9 34469398 34469398 single base substitution G A intron_variant LIRI-JP 9 34471622 34471622 single base substitution G A intron_variant LIRI-JP 9 34472038 34472038 single base substitution T C intron_variant LIRI-JP 9 34472243 34472243 single base substitution G A intron_variant LIRI-JP 9 34473678 34473678 single base substitution T C intron_variant LIRI-JP 9 34476756 34476756 single base substitution A G intron_variant LIRI-JP 9 34479671 34479671 single base substitution C T intron_variant LIRI-JP 9 34480904 34480904 single base substitution A G intron_variant LIRI-JP 9 34480904 34480904 single base substitution A G upstream_gene_variant LIRI-JP 9 34481673 34481673 single base substitution G T intron_variant LIRI-JP 9 34481673 34481673 single base substitution G T upstream_gene_variant LIRI-JP 9 34481984 34481984 single base substitution C T intron_variant LIRI-JP 9 34481984 34481984 single base substitution C T upstream_gene_variant LIRI-JP 9 34484386 34484386 single base substitution A T intron_variant LIRI-JP 9 34484386 34484386 single base substitution A T upstream_gene_variant LIRI-JP 9 34484780 34484780 single base substitution T C intron_variant LIRI-JP 9 34484780 34484780 single base substitution T C upstream_gene_variant LIRI-JP 9 34485557 34485557 deletion of <=200bp C - intron_variant LIRI-JP 9 34485805 34485805 single base substitution T C intron_variant LIRI-JP 9 34488462 34488462 single base substitution C T 3_prime_UTR_variant LIRI-JP 9 34488462 34488462 single base substitution C T exon_variant LIRI-JP 9 34488462 34488462 single base substitution C T intron_variant LIRI-JP 9 34488462 34488462 single base substitution C T upstream_gene_variant LIRI-JP 9 34489925 34489925 single base substitution C A downstream_gene_variant LIRI-JP 9 34489925 34489925 single base substitution C A intron_variant LIRI-JP 9 34489925 34489925 single base substitution C A upstream_gene_variant LIRI-JP 9 34491178 34491178 single base substitution T C downstream_gene_variant LIRI-JP 9 34491178 34491178 single base substitution T C intron_variant LIRI-JP 9 34491178 34491178 single base substitution T C upstream_gene_variant LIRI-JP 9 34492031 34492031 single base substitution C A downstream_gene_variant LIRI-JP 9 34492031 34492031 single base substitution C A intron_variant LIRI-JP 9 34494796 34494796 single base substitution G A downstream_gene_variant LIRI-JP 9 34494796 34494796 single base substitution G A intron_variant LIRI-JP 9 34497056 34497056 single base substitution C T downstream_gene_variant LIRI-JP 9 34497056 34497056 single base substitution C T intron_variant LIRI-JP 9 34502596 34502596 single base substitution G A intron_variant LIRI-JP 9 34502596 34502596 single base substitution G A upstream_gene_variant LIRI-JP 9 34502750 34502750 single base substitution T G intron_variant LIRI-JP 9 34502750 34502750 single base substitution T G upstream_gene_variant LIRI-JP 9 34504622 34504622 single base substitution T C intron_variant LIRI-JP 9 34504622 34504622 single base substitution T C upstream_gene_variant LIRI-JP 9 34509255 34509255 single base substitution T G intron_variant LIRI-JP 9 34509255 34509255 single base substitution T G upstream_gene_variant LIRI-JP 9 34510228 34510228 single base substitution T C intron_variant LIRI-JP 9 34510228 34510228 single base substitution T C upstream_gene_variant LIRI-JP 9 34512545 34512545 single base substitution G T intron_variant LIRI-JP 9 34512545 34512545 single base substitution G T upstream_gene_variant LIRI-JP 9 34523623 34523623 single base substitution A G downstream_gene_variant LIRI-JP 9 34523973 34523973 single base substitution A G downstream_gene_variant LIRI-JP 9 34524594 34524594 single base substitution T C downstream_gene_variant LUSC-KR 9 34460811 34460811 single base substitution C A intron_variant LUSC-KR 9 34467181 34467181 single base substitution A T intron_variant LUSC-KR 9 34468039 34468039 single base substitution G T intron_variant LUSC-KR 9 34470042 34470042 single base substitution T C intron_variant LUSC-KR 9 34474617 34474617 single base substitution A T intron_variant LUSC-KR 9 34481012 34481012 single base substitution G C intron_variant LUSC-KR 9 34481012 34481012 single base substitution G C upstream_gene_variant LUSC-KR 9 34481013 34481013 single base substitution C T intron_variant LUSC-KR 9 34481013 34481013 single base substitution C T upstream_gene_variant LUSC-KR 9 34481095 34481095 single base substitution C G intron_variant LUSC-KR 9 34481095 34481095 single base substitution C G upstream_gene_variant LUSC-KR 9 34481096 34481096 single base substitution G T intron_variant LUSC-KR 9 34481096 34481096 single base substitution G T upstream_gene_variant LUSC-KR 9 34482382 34482382 single base substitution G C intron_variant LUSC-KR 9 34482382 34482382 single base substitution G C upstream_gene_variant LUSC-KR 9 34482577 34482577 single base substitution T C intron_variant LUSC-KR 9 34482577 34482577 single base substitution T C upstream_gene_variant LUSC-KR 9 34485555 34485555 single base substitution C G intron_variant LUSC-KR 9 34488415 34488415 single base substitution G T 3_prime_UTR_variant LUSC-KR 9 34488415 34488415 single base substitution G T exon_variant LUSC-KR 9 34488415 34488415 single base substitution G T intron_variant LUSC-KR 9 34488415 34488415 single base substitution G T upstream_gene_variant LUSC-KR 9 34488961 34488961 single base substitution C T downstream_gene_variant LUSC-KR 9 34488961 34488961 single base substitution C T intron_variant LUSC-KR 9 34488961 34488961 single base substitution C T upstream_gene_variant LUSC-KR 9 34492788 34492788 single base substitution G A downstream_gene_variant LUSC-KR 9 34492788 34492788 single base substitution G A intron_variant LUSC-KR 9 34498572 34498572 single base substitution C T downstream_gene_variant LUSC-KR 9 34498572 34498572 single base substitution C T intron_variant LUSC-KR 9 34501425 34501425 single base substitution C T downstream_gene_variant LUSC-KR 9 34501425 34501425 single base substitution C T intron_variant LUSC-KR 9 34507665 34507665 single base substitution A G intron_variant LUSC-KR 9 34509890 34509890 single base substitution T C intron_variant LUSC-KR 9 34509890 34509890 single base substitution T C upstream_gene_variant LUSC-KR 9 34510111 34510111 single base substitution T C intron_variant LUSC-KR 9 34510111 34510111 single base substitution T C upstream_gene_variant LUSC-KR 9 34518845 34518845 single base substitution A T downstream_gene_variant LUSC-KR 9 34518845 34518845 single base substitution A T intron_variant LUSC-KR 9 34520622 34520622 single base substitution A T downstream_gene_variant LUSC-KR 9 34520622 34520622 single base substitution A T intron_variant LUSC-US 9 34493233 34493233 single base substitution G C downstream_gene_variant LUSC-US 9 34493233 34493233 single base substitution G C exon_variant LUSC-US 9 34493233 34493233 single base substitution G C missense_variant Q230H 690G>C LUSC-US 9 34493233 34493233 single base substitution G C missense_variant Q241H 723G>C LUSC-US 9 34493264 34493264 single base substitution A G downstream_gene_variant LUSC-US 9 34493264 34493264 single base substitution A G exon_variant LUSC-US 9 34493264 34493264 single base substitution A G missense_variant T241A 721A>G LUSC-US 9 34493264 34493264 single base substitution A G missense_variant T252A 754A>G LUSC-US 9 34493299 34493299 single base substitution G T downstream_gene_variant LUSC-US 9 34493299 34493299 single base substitution G T exon_variant LUSC-US 9 34493299 34493299 single base substitution G T missense_variant M252I 756G>T LUSC-US 9 34493299 34493299 single base substitution G T missense_variant M263I 789G>T LUSC-US 9 34506780 34506780 single base substitution A C exon_variant LUSC-US 9 34506780 34506780 single base substitution A C missense_variant N407H 1219A>C LUSC-US 9 34513163 34513163 single base substitution G A exon_variant LUSC-US 9 34513163 34513163 single base substitution G A missense_variant G18S 52G>A LUSC-US 9 34513163 34513163 single base substitution G A missense_variant G515S 1543G>A LUSC-US 9 34514434 34514434 single base substitution G A exon_variant LUSC-US 9 34514434 34514434 single base substitution G A intron_variant LUSC-US 9 34514434 34514434 single base substitution G A missense_variant A41T 121G>A LUSC-US 9 34514434 34514434 single base substitution G A missense_variant A538T 1612G>A LUSC-US 9 34514727 34514727 single base substitution C A 3_prime_UTR_variant LUSC-US 9 34514727 34514727 single base substitution C A exon_variant LUSC-US 9 34514727 34514727 single base substitution C A missense_variant T106K 317C>A LUSC-US 9 34514727 34514727 single base substitution C A missense_variant T603K 1808C>A MALY-DE 9 34457587 34457587 single base substitution C T intron_variant MALY-DE 9 34457587 34457587 single base substitution C T upstream_gene_variant MALY-DE 9 34458454 34458454 single base substitution A G intron_variant MALY-DE 9 34458454 34458454 single base substitution A G upstream_gene_variant MALY-DE 9 34460997 34460997 single base substitution C T intron_variant MALY-DE 9 34467946 34467946 single base substitution A T intron_variant MALY-DE 9 34470928 34470928 single base substitution T A intron_variant MALY-DE 9 34471766 34471766 deletion of <=200bp A - intron_variant MALY-DE 9 34473272 34473272 insertion of <=200bp - TTA intron_variant MALY-DE 9 34480400 34480400 single base substitution T C intron_variant MALY-DE 9 34480400 34480400 single base substitution T C upstream_gene_variant MALY-DE 9 34489849 34489849 deletion of <=200bp A - downstream_gene_variant MALY-DE 9 34489849 34489849 deletion of <=200bp A - intron_variant MALY-DE 9 34489849 34489849 deletion of <=200bp A - upstream_gene_variant MALY-DE 9 34493287 34493287 single base substitution G T downstream_gene_variant MALY-DE 9 34493287 34493287 single base substitution G T exon_variant MALY-DE 9 34493287 34493287 single base substitution G T synonymous_variant G248G 744G>T MALY-DE 9 34493287 34493287 single base substitution G T synonymous_variant G259G 777G>T MALY-DE 9 34503018 34503018 single base substitution C T intron_variant MALY-DE 9 34503018 34503018 single base substitution C T upstream_gene_variant MALY-DE 9 34504563 34504563 single base substitution A G intron_variant MALY-DE 9 34504563 34504563 single base substitution A G upstream_gene_variant MALY-DE 9 34506713 34506713 single base substitution C T exon_variant MALY-DE 9 34506713 34506713 single base substitution C T synonymous_variant S384S 1152C>T MALY-DE 9 34516824 34516824 single base substitution G A intron_variant MELA-AU 9 34452533 34452533 single base substitution T A upstream_gene_variant MELA-AU 9 34453373 34453373 single base substitution G A upstream_gene_variant MELA-AU 9 34454240 34454241 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 9 34456197 34456197 single base substitution A G upstream_gene_variant MELA-AU 9 34456590 34456590 single base substitution C T upstream_gene_variant MELA-AU 9 34456630 34456630 single base substitution G A upstream_gene_variant MELA-AU 9 34456674 34456674 single base substitution G T upstream_gene_variant MELA-AU 9 34456693 34456693 single base substitution G A upstream_gene_variant MELA-AU 9 34457928 34457928 single base substitution G A intron_variant MELA-AU 9 34457928 34457928 single base substitution G A upstream_gene_variant MELA-AU 9 34457962 34457962 single base substitution A G intron_variant MELA-AU 9 34457962 34457962 single base substitution A G upstream_gene_variant MELA-AU 9 34458583 34458583 single base substitution C T intron_variant MELA-AU 9 34458583 34458583 single base substitution C T upstream_gene_variant MELA-AU 9 34458603 34458603 single base substitution G A intron_variant MELA-AU 9 34458603 34458603 single base substitution G A upstream_gene_variant MELA-AU 9 34458623 34458623 single base substitution G A intron_variant MELA-AU 9 34458623 34458623 single base substitution G A upstream_gene_variant MELA-AU 9 34458632 34458632 single base substitution C T intron_variant MELA-AU 9 34458632 34458632 single base substitution C T upstream_gene_variant MELA-AU 9 34458633 34458633 single base substitution C T intron_variant MELA-AU 9 34458633 34458633 single base substitution C T upstream_gene_variant MELA-AU 9 34458647 34458647 single base substitution C T intron_variant MELA-AU 9 34458647 34458647 single base substitution C T upstream_gene_variant MELA-AU 9 34458653 34458653 single base substitution C T intron_variant MELA-AU 9 34458653 34458653 single base substitution C T upstream_gene_variant MELA-AU 9 34458702 34458702 single base substitution G A intron_variant MELA-AU 9 34458702 34458702 single base substitution G A upstream_gene_variant MELA-AU 9 34458703 34458703 single base substitution G A intron_variant MELA-AU 9 34458703 34458703 single base substitution G A upstream_gene_variant MELA-AU 9 34458704 34458705 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 34458704 34458705 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 9 34459092 34459092 single base substitution C T intron_variant MELA-AU 9 34459485 34459485 single base substitution C T intron_variant MELA-AU 9 34460492 34460492 single base substitution G A intron_variant MELA-AU 9 34460522 34460522 single base substitution C T intron_variant MELA-AU 9 34460694 34460694 single base substitution C T intron_variant MELA-AU 9 34460702 34460702 single base substitution C T intron_variant MELA-AU 9 34460779 34460779 single base substitution C T intron_variant MELA-AU 9 34460963 34460963 single base substitution C T intron_variant MELA-AU 9 34461194 34461194 single base substitution C T intron_variant MELA-AU 9 34461226 34461226 single base substitution A G intron_variant MELA-AU 9 34461389 34461389 single base substitution C T intron_variant MELA-AU 9 34461430 34461430 single base substitution C T intron_variant MELA-AU 9 34461658 34461658 single base substitution C T intron_variant MELA-AU 9 34462370 34462370 single base substitution C T intron_variant MELA-AU 9 34462843 34462843 single base substitution C T intron_variant MELA-AU 9 34463201 34463201 single base substitution C A intron_variant MELA-AU 9 34463476 34463476 single base substitution G A intron_variant MELA-AU 9 34463765 34463765 single base substitution G A intron_variant MELA-AU 9 34464095 34464095 single base substitution C T intron_variant MELA-AU 9 34464485 34464485 single base substitution C T intron_variant MELA-AU 9 34464538 34464538 single base substitution G A intron_variant MELA-AU 9 34465033 34465033 single base substitution C T intron_variant MELA-AU 9 34465995 34465995 single base substitution C T intron_variant MELA-AU 9 34466725 34466725 single base substitution G A intron_variant MELA-AU 9 34466731 34466731 single base substitution C T intron_variant MELA-AU 9 34466916 34466916 single base substitution C T intron_variant MELA-AU 9 34466966 34466966 single base substitution C T intron_variant MELA-AU 9 34467056 34467056 single base substitution G A intron_variant MELA-AU 9 34467220 34467220 single base substitution T A intron_variant MELA-AU 9 34467629 34467629 single base substitution C T intron_variant MELA-AU 9 34467786 34467786 insertion of <=200bp - T intron_variant MELA-AU 9 34467874 34467874 single base substitution C T intron_variant MELA-AU 9 34468268 34468268 single base substitution C T intron_variant MELA-AU 9 34468289 34468289 single base substitution C T intron_variant MELA-AU 9 34468335 34468335 single base substitution C T intron_variant MELA-AU 9 34468596 34468596 single base substitution G A intron_variant MELA-AU 9 34468842 34468842 single base substitution G C intron_variant MELA-AU 9 34469420 34469420 single base substitution A G intron_variant MELA-AU 9 34469568 34469568 single base substitution C T intron_variant MELA-AU 9 34469730 34469730 single base substitution C T intron_variant MELA-AU 9 34470854 34470854 single base substitution T G intron_variant MELA-AU 9 34470972 34470972 single base substitution G A intron_variant MELA-AU 9 34471227 34471227 single base substitution C T intron_variant MELA-AU 9 34471791 34471791 single base substitution C T intron_variant MELA-AU 9 34471877 34471877 single base substitution C T intron_variant MELA-AU 9 34472236 34472236 single base substitution C T intron_variant MELA-AU 9 34472258 34472258 single base substitution T A intron_variant MELA-AU 9 34472465 34472465 single base substitution G A intron_variant MELA-AU 9 34472530 34472530 single base substitution G A intron_variant MELA-AU 9 34472801 34472801 single base substitution G A intron_variant MELA-AU 9 34472847 34472847 single base substitution C T intron_variant MELA-AU 9 34472878 34472878 single base substitution G A intron_variant MELA-AU 9 34473146 34473146 single base substitution A C intron_variant MELA-AU 9 34473416 34473416 single base substitution G A intron_variant MELA-AU 9 34473486 34473486 single base substitution C T intron_variant MELA-AU 9 34473716 34473716 single base substitution G A intron_variant MELA-AU 9 34474295 34474295 single base substitution C T intron_variant MELA-AU 9 34474340 34474340 single base substitution C T intron_variant MELA-AU 9 34474460 34474460 single base substitution C T intron_variant MELA-AU 9 34474651 34474651 single base substitution C T intron_variant MELA-AU 9 34475142 34475142 single base substitution G A intron_variant MELA-AU 9 34475145 34475145 single base substitution G A intron_variant MELA-AU 9 34475281 34475281 single base substitution C T intron_variant MELA-AU 9 34475304 34475304 single base substitution G A intron_variant MELA-AU 9 34475720 34475720 single base substitution G A intron_variant MELA-AU 9 34475771 34475772 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 34475913 34475913 single base substitution T G intron_variant MELA-AU 9 34476338 34476338 single base substitution C T intron_variant MELA-AU 9 34476458 34476458 single base substitution T C intron_variant MELA-AU 9 34476854 34476854 single base substitution C T intron_variant MELA-AU 9 34476977 34476977 single base substitution C T intron_variant MELA-AU 9 34477032 34477032 single base substitution G A intron_variant MELA-AU 9 34477104 34477104 single base substitution C T intron_variant MELA-AU 9 34477237 34477237 single base substitution G A intron_variant MELA-AU 9 34477246 34477246 single base substitution G A intron_variant MELA-AU 9 34477381 34477381 single base substitution C T intron_variant MELA-AU 9 34477522 34477522 single base substitution A T intron_variant MELA-AU 9 34478289 34478289 single base substitution G A intron_variant MELA-AU 9 34478562 34478562 single base substitution C T intron_variant MELA-AU 9 34478929 34478929 single base substitution G A intron_variant MELA-AU 9 34479119 34479119 single base substitution A G intron_variant MELA-AU 9 34479250 34479250 single base substitution G A intron_variant MELA-AU 9 34479463 34479463 single base substitution C T intron_variant MELA-AU 9 34479594 34479594 single base substitution C T intron_variant MELA-AU 9 34479688 34479688 single base substitution C A intron_variant MELA-AU 9 34479688 34479688 single base substitution C T intron_variant MELA-AU 9 34479862 34479862 single base substitution C T intron_variant MELA-AU 9 34479871 34479871 single base substitution G A intron_variant MELA-AU 9 34479885 34479885 single base substitution C T intron_variant MELA-AU 9 34480379 34480379 single base substitution G A intron_variant MELA-AU 9 34480379 34480379 single base substitution G A upstream_gene_variant MELA-AU 9 34480385 34480385 single base substitution C T intron_variant MELA-AU 9 34480385 34480385 single base substitution C T upstream_gene_variant MELA-AU 9 34480455 34480455 single base substitution T C intron_variant MELA-AU 9 34480455 34480455 single base substitution T C upstream_gene_variant MELA-AU 9 34480498 34480498 single base substitution A G intron_variant MELA-AU 9 34480498 34480498 single base substitution A G upstream_gene_variant MELA-AU 9 34480596 34480596 single base substitution C T intron_variant MELA-AU 9 34480596 34480596 single base substitution C T upstream_gene_variant MELA-AU 9 34480650 34480650 single base substitution C T intron_variant MELA-AU 9 34480650 34480650 single base substitution C T upstream_gene_variant MELA-AU 9 34480879 34480879 single base substitution G A intron_variant MELA-AU 9 34480879 34480879 single base substitution G A upstream_gene_variant MELA-AU 9 34480927 34480927 single base substitution G A intron_variant MELA-AU 9 34480927 34480927 single base substitution G A upstream_gene_variant MELA-AU 9 34481097 34481097 single base substitution G A intron_variant MELA-AU 9 34481097 34481097 single base substitution G A upstream_gene_variant MELA-AU 9 34481133 34481133 single base substitution C T intron_variant MELA-AU 9 34481133 34481133 single base substitution C T upstream_gene_variant MELA-AU 9 34481141 34481141 single base substitution T G intron_variant MELA-AU 9 34481141 34481141 single base substitution T G upstream_gene_variant MELA-AU 9 34481349 34481349 single base substitution C T intron_variant MELA-AU 9 34481349 34481349 single base substitution C T upstream_gene_variant MELA-AU 9 34481546 34481546 single base substitution G A intron_variant MELA-AU 9 34481546 34481546 single base substitution G A upstream_gene_variant MELA-AU 9 34481606 34481606 single base substitution C T intron_variant MELA-AU 9 34481606 34481606 single base substitution C T upstream_gene_variant MELA-AU 9 34481672 34481672 single base substitution G A intron_variant MELA-AU 9 34481672 34481672 single base substitution G A upstream_gene_variant MELA-AU 9 34481983 34481983 single base substitution G A intron_variant MELA-AU 9 34481983 34481983 single base substitution G A upstream_gene_variant MELA-AU 9 34482242 34482242 single base substitution T C intron_variant MELA-AU 9 34482242 34482242 single base substitution T C upstream_gene_variant MELA-AU 9 34482338 34482338 single base substitution C T intron_variant MELA-AU 9 34482338 34482338 single base substitution C T upstream_gene_variant MELA-AU 9 34482794 34482795 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 9 34482794 34482795 multiple base substitution (>=2bp and <=200bp) GG AT upstream_gene_variant MELA-AU 9 34483128 34483128 single base substitution C T intron_variant MELA-AU 9 34483128 34483128 single base substitution C T upstream_gene_variant MELA-AU 9 34483144 34483144 single base substitution C T intron_variant MELA-AU 9 34483144 34483144 single base substitution C T upstream_gene_variant MELA-AU 9 34483158 34483158 single base substitution C T intron_variant MELA-AU 9 34483158 34483158 single base substitution C T upstream_gene_variant MELA-AU 9 34483396 34483396 single base substitution C T intron_variant MELA-AU 9 34483396 34483396 single base substitution C T upstream_gene_variant MELA-AU 9 34483596 34483596 single base substitution C T intron_variant MELA-AU 9 34483596 34483596 single base substitution C T upstream_gene_variant MELA-AU 9 34483925 34483925 single base substitution C T intron_variant MELA-AU 9 34483925 34483925 single base substitution C T upstream_gene_variant MELA-AU 9 34484011 34484011 single base substitution C T intron_variant MELA-AU 9 34484011 34484011 single base substitution C T upstream_gene_variant MELA-AU 9 34484088 34484088 single base substitution C T intron_variant MELA-AU 9 34484088 34484088 single base substitution C T upstream_gene_variant MELA-AU 9 34484167 34484167 single base substitution C T intron_variant MELA-AU 9 34484167 34484167 single base substitution C T upstream_gene_variant MELA-AU 9 34484430 34484430 single base substitution C T intron_variant MELA-AU 9 34484430 34484430 single base substitution C T upstream_gene_variant MELA-AU 9 34485229 34485229 single base substitution G C exon_variant MELA-AU 9 34485229 34485229 single base substitution G C missense_variant L46F 138G>C MELA-AU 9 34485229 34485229 single base substitution G C missense_variant L57F 171G>C MELA-AU 9 34485329 34485329 single base substitution G A intron_variant MELA-AU 9 34485457 34485457 single base substitution G A exon_variant MELA-AU 9 34485457 34485457 single base substitution G A missense_variant R57Q 170G>A MELA-AU 9 34485457 34485457 single base substitution G A missense_variant R68Q 203G>A MELA-AU 9 34485890 34485890 single base substitution C T intron_variant MELA-AU 9 34486043 34486043 single base substitution G A intron_variant MELA-AU 9 34486213 34486213 single base substitution C T intron_variant MELA-AU 9 34486240 34486240 single base substitution G A intron_variant MELA-AU 9 34486501 34486501 single base substitution G A intron_variant MELA-AU 9 34486501 34486501 single base substitution G A upstream_gene_variant MELA-AU 9 34486650 34486650 single base substitution C T intron_variant MELA-AU 9 34486650 34486650 single base substitution C T upstream_gene_variant MELA-AU 9 34487164 34487164 single base substitution G A intron_variant MELA-AU 9 34487164 34487164 single base substitution G A upstream_gene_variant MELA-AU 9 34487318 34487318 single base substitution G A intron_variant MELA-AU 9 34487318 34487318 single base substitution G A upstream_gene_variant MELA-AU 9 34487533 34487533 single base substitution C T intron_variant MELA-AU 9 34487533 34487533 single base substitution C T upstream_gene_variant MELA-AU 9 34487606 34487606 single base substitution C T intron_variant MELA-AU 9 34487606 34487606 single base substitution C T upstream_gene_variant MELA-AU 9 34487670 34487670 single base substitution G A intron_variant MELA-AU 9 34487670 34487670 single base substitution G A upstream_gene_variant MELA-AU 9 34487952 34487952 single base substitution G A exon_variant MELA-AU 9 34487952 34487952 single base substitution G A intron_variant MELA-AU 9 34487952 34487952 single base substitution G A stop_gained W90* 270G>A MELA-AU 9 34487952 34487952 single base substitution G A upstream_gene_variant MELA-AU 9 34488569 34488569 single base substitution G A 3_prime_UTR_variant MELA-AU 9 34488569 34488569 single base substitution G A downstream_gene_variant MELA-AU 9 34488569 34488569 single base substitution G A intron_variant MELA-AU 9 34488569 34488569 single base substitution G A upstream_gene_variant MELA-AU 9 34488797 34488797 single base substitution C T 3_prime_UTR_variant MELA-AU 9 34488797 34488797 single base substitution C T downstream_gene_variant MELA-AU 9 34488797 34488797 single base substitution C T intron_variant MELA-AU 9 34488797 34488797 single base substitution C T upstream_gene_variant MELA-AU 9 34488847 34488847 single base substitution C T 3_prime_UTR_variant MELA-AU 9 34488847 34488847 single base substitution C T downstream_gene_variant MELA-AU 9 34488847 34488847 single base substitution C T intron_variant MELA-AU 9 34488847 34488847 single base substitution C T upstream_gene_variant MELA-AU 9 34489069 34489069 single base substitution T C downstream_gene_variant MELA-AU 9 34489069 34489069 single base substitution T C intron_variant MELA-AU 9 34489069 34489069 single base substitution T C upstream_gene_variant MELA-AU 9 34489145 34489145 single base substitution C T downstream_gene_variant MELA-AU 9 34489145 34489145 single base substitution C T intron_variant MELA-AU 9 34489145 34489145 single base substitution C T upstream_gene_variant MELA-AU 9 34489181 34489181 single base substitution C T downstream_gene_variant MELA-AU 9 34489181 34489181 single base substitution C T exon_variant MELA-AU 9 34489181 34489181 single base substitution C T intron_variant MELA-AU 9 34489181 34489181 single base substitution C T upstream_gene_variant MELA-AU 9 34489424 34489424 single base substitution A T downstream_gene_variant MELA-AU 9 34489424 34489424 single base substitution A T exon_variant MELA-AU 9 34489424 34489424 single base substitution A T missense_variant H111L 332A>T MELA-AU 9 34489424 34489424 single base substitution A T missense_variant H122L 365A>T MELA-AU 9 34489424 34489424 single base substitution A T upstream_gene_variant MELA-AU 9 34490137 34490137 single base substitution C T downstream_gene_variant MELA-AU 9 34490137 34490137 single base substitution C T intron_variant MELA-AU 9 34490137 34490137 single base substitution C T upstream_gene_variant MELA-AU 9 34490202 34490202 single base substitution G A downstream_gene_variant MELA-AU 9 34490202 34490202 single base substitution G A intron_variant MELA-AU 9 34490202 34490202 single base substitution G A upstream_gene_variant MELA-AU 9 34490388 34490388 single base substitution G A downstream_gene_variant MELA-AU 9 34490388 34490388 single base substitution G A exon_variant MELA-AU 9 34490388 34490388 single base substitution G A missense_variant E164K 490G>A MELA-AU 9 34490388 34490388 single base substitution G A missense_variant E175K 523G>A MELA-AU 9 34490388 34490388 single base substitution G A upstream_gene_variant MELA-AU 9 34490496 34490496 single base substitution C T downstream_gene_variant MELA-AU 9 34490496 34490496 single base substitution C T intron_variant MELA-AU 9 34490496 34490496 single base substitution C T upstream_gene_variant MELA-AU 9 34490540 34490540 single base substitution G A downstream_gene_variant MELA-AU 9 34490540 34490540 single base substitution G A intron_variant MELA-AU 9 34490540 34490540 single base substitution G A upstream_gene_variant MELA-AU 9 34490813 34490813 single base substitution C T downstream_gene_variant MELA-AU 9 34490813 34490813 single base substitution C T intron_variant MELA-AU 9 34490813 34490813 single base substitution C T upstream_gene_variant MELA-AU 9 34490984 34490984 single base substitution G A downstream_gene_variant MELA-AU 9 34490984 34490984 single base substitution G A intron_variant MELA-AU 9 34490984 34490984 single base substitution G A upstream_gene_variant MELA-AU 9 34491056 34491056 single base substitution G A downstream_gene_variant MELA-AU 9 34491056 34491056 single base substitution G A intron_variant MELA-AU 9 34491056 34491056 single base substitution G A upstream_gene_variant MELA-AU 9 34491143 34491143 single base substitution G A downstream_gene_variant MELA-AU 9 34491143 34491143 single base substitution G A intron_variant MELA-AU 9 34491143 34491143 single base substitution G A upstream_gene_variant MELA-AU 9 34491144 34491144 single base substitution G A downstream_gene_variant MELA-AU 9 34491144 34491144 single base substitution G A intron_variant MELA-AU 9 34491144 34491144 single base substitution G A upstream_gene_variant MELA-AU 9 34491350 34491351 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 9 34491350 34491351 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 9 34491350 34491351 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 34491499 34491499 single base substitution G A downstream_gene_variant MELA-AU 9 34491499 34491499 single base substitution G A exon_variant MELA-AU 9 34491499 34491499 single base substitution G A missense_variant E199K 595G>A MELA-AU 9 34491499 34491499 single base substitution G A missense_variant E210K 628G>A MELA-AU 9 34491511 34491511 single base substitution G A downstream_gene_variant MELA-AU 9 34491511 34491511 single base substitution G A exon_variant MELA-AU 9 34491511 34491511 single base substitution G A missense_variant E203K 607G>A MELA-AU 9 34491511 34491511 single base substitution G A missense_variant E214K 640G>A MELA-AU 9 34491518 34491518 single base substitution C T downstream_gene_variant MELA-AU 9 34491518 34491518 single base substitution C T exon_variant MELA-AU 9 34491518 34491518 single base substitution C T missense_variant P205L 614C>T MELA-AU 9 34491518 34491518 single base substitution C T missense_variant P216L 647C>T MELA-AU 9 34491520 34491520 single base substitution C T downstream_gene_variant MELA-AU 9 34491520 34491520 single base substitution C T exon_variant MELA-AU 9 34491520 34491520 single base substitution C T missense_variant P206S 616C>T MELA-AU 9 34491520 34491520 single base substitution C T missense_variant P217S 649C>T MELA-AU 9 34491573 34491573 single base substitution G A downstream_gene_variant MELA-AU 9 34491573 34491573 single base substitution G A intron_variant MELA-AU 9 34491988 34491988 single base substitution G A downstream_gene_variant MELA-AU 9 34491988 34491988 single base substitution G A intron_variant MELA-AU 9 34492677 34492677 single base substitution C T downstream_gene_variant MELA-AU 9 34492677 34492677 single base substitution C T intron_variant MELA-AU 9 34492965 34492965 single base substitution C T downstream_gene_variant MELA-AU 9 34492965 34492965 single base substitution C T intron_variant MELA-AU 9 34493008 34493008 single base substitution C T downstream_gene_variant MELA-AU 9 34493008 34493008 single base substitution C T intron_variant MELA-AU 9 34493173 34493173 single base substitution T C downstream_gene_variant MELA-AU 9 34493173 34493173 single base substitution T C intron_variant MELA-AU 9 34493268 34493268 single base substitution C T downstream_gene_variant MELA-AU 9 34493268 34493268 single base substitution C T exon_variant MELA-AU 9 34493268 34493268 single base substitution C T missense_variant P242L 725C>T MELA-AU 9 34493268 34493268 single base substitution C T missense_variant P253L 758C>T MELA-AU 9 34493467 34493467 single base substitution C T downstream_gene_variant MELA-AU 9 34493467 34493467 single base substitution C T intron_variant MELA-AU 9 34493468 34493468 single base substitution C T downstream_gene_variant MELA-AU 9 34493468 34493468 single base substitution C T intron_variant MELA-AU 9 34493474 34493474 single base substitution G A downstream_gene_variant MELA-AU 9 34493474 34493474 single base substitution G A intron_variant MELA-AU 9 34493677 34493677 single base substitution C T downstream_gene_variant MELA-AU 9 34493677 34493677 single base substitution C T intron_variant MELA-AU 9 34493708 34493708 single base substitution G A downstream_gene_variant MELA-AU 9 34493708 34493708 single base substitution G A intron_variant MELA-AU 9 34493992 34493992 single base substitution C T downstream_gene_variant MELA-AU 9 34493992 34493992 single base substitution C T intron_variant MELA-AU 9 34494353 34494353 single base substitution T C downstream_gene_variant MELA-AU 9 34494353 34494353 single base substitution T C intron_variant MELA-AU 9 34494613 34494613 single base substitution G A downstream_gene_variant MELA-AU 9 34494613 34494613 single base substitution G A intron_variant MELA-AU 9 34494813 34494813 single base substitution C T downstream_gene_variant MELA-AU 9 34494813 34494813 single base substitution C T intron_variant MELA-AU 9 34494814 34494814 single base substitution C T downstream_gene_variant MELA-AU 9 34494814 34494814 single base substitution C T intron_variant MELA-AU 9 34494930 34494930 single base substitution C T downstream_gene_variant MELA-AU 9 34494930 34494930 single base substitution C T intron_variant MELA-AU 9 34494988 34494988 single base substitution C T downstream_gene_variant MELA-AU 9 34494988 34494988 single base substitution C T intron_variant MELA-AU 9 34495140 34495140 single base substitution G A downstream_gene_variant MELA-AU 9 34495140 34495140 single base substitution G A intron_variant MELA-AU 9 34495301 34495301 single base substitution C T downstream_gene_variant MELA-AU 9 34495301 34495301 single base substitution C T intron_variant MELA-AU 9 34495447 34495447 single base substitution C T downstream_gene_variant MELA-AU 9 34495447 34495447 single base substitution C T intron_variant MELA-AU 9 34495487 34495487 single base substitution T A downstream_gene_variant MELA-AU 9 34495487 34495487 single base substitution T A intron_variant MELA-AU 9 34495595 34495595 single base substitution G A downstream_gene_variant MELA-AU 9 34495595 34495595 single base substitution G A intron_variant MELA-AU 9 34495686 34495686 single base substitution C T downstream_gene_variant MELA-AU 9 34495686 34495686 single base substitution C T intron_variant MELA-AU 9 34495710 34495710 single base substitution G A downstream_gene_variant MELA-AU 9 34495710 34495710 single base substitution G A intron_variant MELA-AU 9 34495736 34495736 single base substitution G A downstream_gene_variant MELA-AU 9 34495736 34495736 single base substitution G A intron_variant MELA-AU 9 34495829 34495829 single base substitution C T downstream_gene_variant MELA-AU 9 34495829 34495829 single base substitution C T intron_variant MELA-AU 9 34495884 34495885 multiple base substitution (>=2bp and <=200bp) CC AT downstream_gene_variant MELA-AU 9 34495884 34495885 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 9 34496127 34496127 single base substitution C T downstream_gene_variant MELA-AU 9 34496127 34496127 single base substitution C T intron_variant MELA-AU 9 34496145 34496145 single base substitution G A downstream_gene_variant MELA-AU 9 34496145 34496145 single base substitution G A intron_variant MELA-AU 9 34496450 34496450 single base substitution G A downstream_gene_variant MELA-AU 9 34496450 34496450 single base substitution G A intron_variant MELA-AU 9 34496525 34496525 single base substitution C T downstream_gene_variant MELA-AU 9 34496525 34496525 single base substitution C T intron_variant MELA-AU 9 34496931 34496931 single base substitution C T downstream_gene_variant MELA-AU 9 34496931 34496931 single base substitution C T intron_variant MELA-AU 9 34497182 34497182 single base substitution G A downstream_gene_variant MELA-AU 9 34497182 34497182 single base substitution G A missense_variant D285N 853G>A MELA-AU 9 34497182 34497182 single base substitution G A missense_variant D296N 886G>A MELA-AU 9 34497223 34497223 single base substitution C T downstream_gene_variant MELA-AU 9 34497223 34497223 single base substitution C T intron_variant MELA-AU 9 34497505 34497505 single base substitution C G downstream_gene_variant MELA-AU 9 34497505 34497505 single base substitution C G intron_variant MELA-AU 9 34497795 34497795 single base substitution G A downstream_gene_variant MELA-AU 9 34497795 34497795 single base substitution G A intron_variant MELA-AU 9 34497899 34497899 single base substitution C T downstream_gene_variant MELA-AU 9 34497899 34497899 single base substitution C T intron_variant MELA-AU 9 34497978 34497978 single base substitution G A downstream_gene_variant MELA-AU 9 34497978 34497978 single base substitution G A intron_variant MELA-AU 9 34498124 34498124 single base substitution G A downstream_gene_variant MELA-AU 9 34498124 34498124 single base substitution G A intron_variant MELA-AU 9 34498413 34498413 single base substitution C T downstream_gene_variant MELA-AU 9 34498413 34498413 single base substitution C T intron_variant MELA-AU 9 34498808 34498808 single base substitution C A downstream_gene_variant MELA-AU 9 34498808 34498808 single base substitution C A intron_variant MELA-AU 9 34498842 34498842 single base substitution C T downstream_gene_variant MELA-AU 9 34498842 34498842 single base substitution C T intron_variant MELA-AU 9 34499372 34499373 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 9 34499372 34499373 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 34499542 34499542 single base substitution G A downstream_gene_variant MELA-AU 9 34499542 34499542 single base substitution G A intron_variant MELA-AU 9 34499795 34499795 single base substitution G A downstream_gene_variant MELA-AU 9 34499795 34499795 single base substitution G A intron_variant MELA-AU 9 34499852 34499852 single base substitution G A downstream_gene_variant MELA-AU 9 34499852 34499852 single base substitution G A intron_variant MELA-AU 9 34499994 34499994 single base substitution A T downstream_gene_variant MELA-AU 9 34499994 34499994 single base substitution A T intron_variant MELA-AU 9 34500295 34500296 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 9 34500295 34500296 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 34500324 34500324 single base substitution T A downstream_gene_variant MELA-AU 9 34500324 34500324 single base substitution T A intron_variant MELA-AU 9 34500367 34500367 single base substitution C T downstream_gene_variant MELA-AU 9 34500367 34500367 single base substitution C T intron_variant MELA-AU 9 34500618 34500618 single base substitution A T downstream_gene_variant MELA-AU 9 34500618 34500618 single base substitution A T intron_variant MELA-AU 9 34500828 34500828 single base substitution C T downstream_gene_variant MELA-AU 9 34500828 34500828 single base substitution C T missense_variant A337V 1010C>T MELA-AU 9 34500879 34500879 single base substitution C T downstream_gene_variant MELA-AU 9 34500879 34500879 single base substitution C T intron_variant MELA-AU 9 34501055 34501055 single base substitution C T downstream_gene_variant MELA-AU 9 34501055 34501055 single base substitution C T intron_variant MELA-AU 9 34501352 34501352 single base substitution G A downstream_gene_variant MELA-AU 9 34501352 34501352 single base substitution G A intron_variant MELA-AU 9 34501422 34501422 single base substitution C T downstream_gene_variant MELA-AU 9 34501422 34501422 single base substitution C T intron_variant MELA-AU 9 34501782 34501782 single base substitution G A downstream_gene_variant MELA-AU 9 34501782 34501782 single base substitution G A intron_variant MELA-AU 9 34501782 34501782 single base substitution G A upstream_gene_variant MELA-AU 9 34501973 34501973 single base substitution G A downstream_gene_variant MELA-AU 9 34501973 34501973 single base substitution G A intron_variant MELA-AU 9 34501973 34501973 single base substitution G A upstream_gene_variant MELA-AU 9 34502043 34502043 single base substitution C T downstream_gene_variant MELA-AU 9 34502043 34502043 single base substitution C T intron_variant MELA-AU 9 34502043 34502043 single base substitution C T upstream_gene_variant MELA-AU 9 34503157 34503157 single base substitution G A intron_variant MELA-AU 9 34503157 34503157 single base substitution G A upstream_gene_variant MELA-AU 9 34504432 34504432 single base substitution C T intron_variant MELA-AU 9 34504432 34504432 single base substitution C T upstream_gene_variant MELA-AU 9 34504678 34504678 single base substitution G A intron_variant MELA-AU 9 34504678 34504678 single base substitution G A upstream_gene_variant MELA-AU 9 34504838 34504838 single base substitution C A intron_variant MELA-AU 9 34504838 34504838 single base substitution C A upstream_gene_variant MELA-AU 9 34504849 34504849 single base substitution G A intron_variant MELA-AU 9 34504849 34504849 single base substitution G A upstream_gene_variant MELA-AU 9 34504979 34504979 single base substitution C T intron_variant MELA-AU 9 34504979 34504979 single base substitution C T upstream_gene_variant MELA-AU 9 34505369 34505369 single base substitution C T intron_variant MELA-AU 9 34505369 34505369 single base substitution C T upstream_gene_variant MELA-AU 9 34505899 34505899 single base substitution C T intron_variant MELA-AU 9 34505899 34505899 single base substitution C T upstream_gene_variant MELA-AU 9 34505981 34505981 single base substitution G A intron_variant MELA-AU 9 34505981 34505981 single base substitution G A upstream_gene_variant MELA-AU 9 34506328 34506328 single base substitution C T intron_variant MELA-AU 9 34506328 34506328 single base substitution C T upstream_gene_variant MELA-AU 9 34506373 34506373 single base substitution G A intron_variant MELA-AU 9 34506373 34506373 single base substitution G A upstream_gene_variant MELA-AU 9 34506476 34506476 single base substitution G A intron_variant MELA-AU 9 34506476 34506476 single base substitution G A upstream_gene_variant MELA-AU 9 34506551 34506551 single base substitution G A intron_variant MELA-AU 9 34506551 34506551 single base substitution G A upstream_gene_variant MELA-AU 9 34506941 34506941 single base substitution G A intron_variant MELA-AU 9 34507468 34507468 single base substitution A C intron_variant MELA-AU 9 34507544 34507544 single base substitution G A intron_variant MELA-AU 9 34507563 34507563 single base substitution G A intron_variant MELA-AU 9 34507960 34507960 single base substitution C T intron_variant MELA-AU 9 34508019 34508019 single base substitution C T intron_variant MELA-AU 9 34508393 34508393 single base substitution C T intron_variant MELA-AU 9 34508393 34508393 single base substitution C T upstream_gene_variant MELA-AU 9 34508436 34508436 single base substitution C T intron_variant MELA-AU 9 34508436 34508436 single base substitution C T upstream_gene_variant MELA-AU 9 34508915 34508915 single base substitution G A intron_variant MELA-AU 9 34508915 34508915 single base substitution G A upstream_gene_variant MELA-AU 9 34509457 34509457 single base substitution G A intron_variant MELA-AU 9 34509457 34509457 single base substitution G A upstream_gene_variant MELA-AU 9 34509549 34509549 single base substitution G A intron_variant MELA-AU 9 34509549 34509549 single base substitution G A upstream_gene_variant MELA-AU 9 34510167 34510167 single base substitution G A intron_variant MELA-AU 9 34510167 34510167 single base substitution G A upstream_gene_variant MELA-AU 9 34510278 34510278 single base substitution G T intron_variant MELA-AU 9 34510278 34510278 single base substitution G T upstream_gene_variant MELA-AU 9 34510560 34510560 single base substitution C T intron_variant MELA-AU 9 34510560 34510560 single base substitution C T upstream_gene_variant MELA-AU 9 34511147 34511147 single base substitution G A intron_variant MELA-AU 9 34511147 34511147 single base substitution G A upstream_gene_variant MELA-AU 9 34511413 34511413 single base substitution T C intron_variant MELA-AU 9 34511413 34511413 single base substitution T C upstream_gene_variant MELA-AU 9 34511489 34511489 single base substitution C T intron_variant MELA-AU 9 34511489 34511489 single base substitution C T upstream_gene_variant MELA-AU 9 34511904 34511904 single base substitution G A intron_variant MELA-AU 9 34511904 34511904 single base substitution G A upstream_gene_variant MELA-AU 9 34512121 34512121 single base substitution G A exon_variant MELA-AU 9 34512121 34512121 single base substitution G A synonymous_variant K442K 1326G>A MELA-AU 9 34512121 34512121 single base substitution G A upstream_gene_variant MELA-AU 9 34512202 34512202 single base substitution T G splice_region_variant MELA-AU 9 34512202 34512202 single base substitution T G upstream_gene_variant MELA-AU 9 34512244 34512244 single base substitution G A intron_variant MELA-AU 9 34512244 34512244 single base substitution G A upstream_gene_variant MELA-AU 9 34512288 34512288 single base substitution C T intron_variant MELA-AU 9 34512288 34512288 single base substitution C T upstream_gene_variant MELA-AU 9 34512788 34512788 single base substitution C T intron_variant MELA-AU 9 34512788 34512788 single base substitution C T upstream_gene_variant MELA-AU 9 34513422 34513422 single base substitution T A intron_variant MELA-AU 9 34513424 34513424 single base substitution C T intron_variant MELA-AU 9 34513685 34513686 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 34513983 34513983 single base substitution G A intron_variant MELA-AU 9 34514132 34514132 single base substitution G A intron_variant MELA-AU 9 34514215 34514215 single base substitution C T intron_variant MELA-AU 9 34514385 34514385 single base substitution C T intron_variant MELA-AU 9 34514385 34514385 single base substitution C T splice_region_variant MELA-AU 9 34514821 34514821 single base substitution C T intron_variant MELA-AU 9 34514934 34514934 single base substitution G A intron_variant MELA-AU 9 34515172 34515172 single base substitution G A intron_variant MELA-AU 9 34515317 34515317 single base substitution G A intron_variant MELA-AU 9 34515336 34515336 single base substitution C T intron_variant MELA-AU 9 34515381 34515381 single base substitution G A intron_variant MELA-AU 9 34515433 34515433 single base substitution G A intron_variant MELA-AU 9 34516136 34516136 single base substitution C T intron_variant MELA-AU 9 34516622 34516622 single base substitution C T intron_variant MELA-AU 9 34516879 34516879 single base substitution A C intron_variant MELA-AU 9 34517184 34517184 single base substitution C T intron_variant MELA-AU 9 34517584 34517584 single base substitution G A downstream_gene_variant MELA-AU 9 34517584 34517584 single base substitution G A intron_variant MELA-AU 9 34517600 34517600 single base substitution G A downstream_gene_variant MELA-AU 9 34517600 34517600 single base substitution G A intron_variant MELA-AU 9 34517660 34517660 single base substitution G A downstream_gene_variant MELA-AU 9 34517660 34517660 single base substitution G A intron_variant MELA-AU 9 34517808 34517808 single base substitution G A downstream_gene_variant MELA-AU 9 34517808 34517808 single base substitution G A intron_variant MELA-AU 9 34517961 34517961 single base substitution G A downstream_gene_variant MELA-AU 9 34517961 34517961 single base substitution G A intron_variant MELA-AU 9 34518134 34518134 single base substitution G A downstream_gene_variant MELA-AU 9 34518134 34518134 single base substitution G A intron_variant MELA-AU 9 34518348 34518348 single base substitution G A downstream_gene_variant MELA-AU 9 34518348 34518348 single base substitution G A intron_variant MELA-AU 9 34519016 34519016 single base substitution C T downstream_gene_variant MELA-AU 9 34519016 34519016 single base substitution C T intron_variant MELA-AU 9 34519482 34519482 single base substitution G A downstream_gene_variant MELA-AU 9 34519482 34519482 single base substitution G A intron_variant MELA-AU 9 34519518 34519518 single base substitution T A downstream_gene_variant MELA-AU 9 34519518 34519518 single base substitution T A intron_variant MELA-AU 9 34519627 34519627 single base substitution G A downstream_gene_variant MELA-AU 9 34519627 34519627 single base substitution G A intron_variant MELA-AU 9 34519628 34519628 single base substitution G A downstream_gene_variant MELA-AU 9 34519628 34519628 single base substitution G A intron_variant MELA-AU 9 34520009 34520009 single base substitution G A downstream_gene_variant MELA-AU 9 34520009 34520009 single base substitution G A intron_variant MELA-AU 9 34520337 34520337 single base substitution C T downstream_gene_variant MELA-AU 9 34520337 34520337 single base substitution C T intron_variant MELA-AU 9 34520404 34520404 single base substitution C T downstream_gene_variant MELA-AU 9 34520404 34520404 single base substitution C T intron_variant MELA-AU 9 34520900 34520900 single base substitution G A 3_prime_UTR_variant MELA-AU 9 34520900 34520900 single base substitution G A downstream_gene_variant MELA-AU 9 34521111 34521111 single base substitution C T downstream_gene_variant MELA-AU 9 34521203 34521203 single base substitution C T downstream_gene_variant MELA-AU 9 34521257 34521257 single base substitution C T downstream_gene_variant MELA-AU 9 34521357 34521357 single base substitution G A downstream_gene_variant MELA-AU 9 34521972 34521972 single base substitution G C downstream_gene_variant MELA-AU 9 34522621 34522621 single base substitution C T downstream_gene_variant MELA-AU 9 34522629 34522629 single base substitution C T downstream_gene_variant MELA-AU 9 34523417 34523417 single base substitution A G downstream_gene_variant MELA-AU 9 34523437 34523437 single base substitution G C downstream_gene_variant MELA-AU 9 34523560 34523560 single base substitution G A downstream_gene_variant MELA-AU 9 34523820 34523820 single base substitution G A downstream_gene_variant MELA-AU 9 34523831 34523831 single base substitution G A downstream_gene_variant MELA-AU 9 34524277 34524277 single base substitution G T downstream_gene_variant MELA-AU 9 34524644 34524644 single base substitution G A downstream_gene_variant MELA-AU 9 34524748 34524748 single base substitution G A downstream_gene_variant MELA-AU 9 34524854 34524854 single base substitution G A downstream_gene_variant MELA-AU 9 34524919 34524919 single base substitution G A downstream_gene_variant MELA-AU 9 34525242 34525242 single base substitution C T downstream_gene_variant MELA-AU 9 34525870 34525870 single base substitution C T downstream_gene_variant ORCA-IN 9 34459448 34459448 deletion of <=200bp C - intron_variant ORCA-IN 9 34472877 34472877 single base substitution C T intron_variant ORCA-IN 9 34474137 34474137 single base substitution C T intron_variant ORCA-IN 9 34477923 34477923 insertion of <=200bp - C intron_variant ORCA-IN 9 34486756 34486756 single base substitution C T intron_variant ORCA-IN 9 34486756 34486756 single base substitution C T upstream_gene_variant ORCA-IN 9 34502493 34502493 single base substitution C T intron_variant ORCA-IN 9 34502493 34502493 single base substitution C T upstream_gene_variant ORCA-IN 9 34505212 34505212 single base substitution A T intron_variant ORCA-IN 9 34505212 34505212 single base substitution A T upstream_gene_variant ORCA-IN 9 34512448 34512448 single base substitution C A intron_variant ORCA-IN 9 34512448 34512448 single base substitution C A upstream_gene_variant ORCA-IN 9 34521658 34521658 single base substitution G A downstream_gene_variant OV-AU 9 34456203 34456203 single base substitution A G upstream_gene_variant OV-AU 9 34476469 34476469 single base substitution G C intron_variant OV-AU 9 34485998 34485998 single base substitution C T intron_variant OV-AU 9 34487884 34487884 single base substitution A T intron_variant OV-AU 9 34487884 34487884 single base substitution A T upstream_gene_variant OV-AU 9 34493082 34493082 single base substitution C T downstream_gene_variant OV-AU 9 34493082 34493082 single base substitution C T intron_variant OV-AU 9 34494432 34494432 single base substitution C A downstream_gene_variant OV-AU 9 34494432 34494432 single base substitution C A intron_variant OV-AU 9 34496754 34496754 single base substitution C A downstream_gene_variant OV-AU 9 34496754 34496754 single base substitution C A intron_variant OV-AU 9 34497317 34497317 single base substitution C G downstream_gene_variant OV-AU 9 34497317 34497317 single base substitution C G intron_variant OV-AU 9 34499936 34499936 single base substitution C G downstream_gene_variant OV-AU 9 34499936 34499936 single base substitution C G intron_variant OV-AU 9 34502313 34502313 single base substitution C A intron_variant OV-AU 9 34502313 34502313 single base substitution C A upstream_gene_variant OV-AU 9 34506595 34506595 single base substitution C A intron_variant OV-AU 9 34506595 34506595 single base substitution C A upstream_gene_variant OV-AU 9 34508314 34508314 single base substitution G C intron_variant OV-AU 9 34508314 34508314 single base substitution G C upstream_gene_variant OV-AU 9 34509150 34509150 single base substitution C A intron_variant OV-AU 9 34509150 34509150 single base substitution C A upstream_gene_variant OV-AU 9 34515532 34515532 single base substitution C T intron_variant OV-AU 9 34516816 34516816 single base substitution T G intron_variant OV-AU 9 34516946 34516946 single base substitution C A intron_variant OV-AU 9 34524951 34524951 single base substitution G A downstream_gene_variant OV-AU 9 34525138 34525138 single base substitution G A downstream_gene_variant PACA-AU 9 34459447 34459448 deletion of <=200bp TC - intron_variant PACA-AU 9 34464512 34464512 single base substitution G T intron_variant PACA-AU 9 34469086 34469086 single base substitution C T intron_variant PACA-AU 9 34482800 34482800 single base substitution C T intron_variant PACA-AU 9 34482800 34482800 single base substitution C T upstream_gene_variant PACA-AU 9 34483054 34483054 single base substitution G A intron_variant PACA-AU 9 34483054 34483054 single base substitution G A upstream_gene_variant PACA-AU 9 34490499 34490499 single base substitution C A downstream_gene_variant PACA-AU 9 34490499 34490499 single base substitution C A intron_variant PACA-AU 9 34490499 34490499 single base substitution C A upstream_gene_variant PACA-AU 9 34491349 34491349 deletion of <=200bp C - downstream_gene_variant PACA-AU 9 34491349 34491349 deletion of <=200bp C - exon_variant PACA-AU 9 34491349 34491349 deletion of <=200bp C - intron_variant PACA-AU 9 34496142 34496142 single base substitution G C downstream_gene_variant PACA-AU 9 34496142 34496142 single base substitution G C intron_variant PACA-AU 9 34499941 34499941 single base substitution G T downstream_gene_variant PACA-AU 9 34499941 34499941 single base substitution G T intron_variant PACA-AU 9 34501288 34501288 single base substitution G A downstream_gene_variant PACA-AU 9 34501288 34501288 single base substitution G A intron_variant PACA-AU 9 34513224 34513224 single base substitution G A intron_variant PACA-AU 9 34513593 34513593 single base substitution C T intron_variant PACA-AU 9 34522180 34522180 single base substitution C T downstream_gene_variant PACA-CA 9 34455619 34455619 single base substitution C T upstream_gene_variant PACA-CA 9 34464704 34464704 single base substitution G T intron_variant PACA-CA 9 34468220 34468220 single base substitution G A intron_variant PACA-CA 9 34476223 34476223 single base substitution T G intron_variant PACA-CA 9 34480788 34480788 insertion of <=200bp - A intron_variant PACA-CA 9 34480788 34480788 insertion of <=200bp - A upstream_gene_variant PACA-CA 9 34481812 34481812 single base substitution T A intron_variant PACA-CA 9 34481812 34481812 single base substitution T A upstream_gene_variant PACA-CA 9 34482260 34482260 single base substitution T G intron_variant PACA-CA 9 34482260 34482260 single base substitution T G upstream_gene_variant PACA-CA 9 34484168 34484168 single base substitution G A intron_variant PACA-CA 9 34484168 34484168 single base substitution G A upstream_gene_variant PACA-CA 9 34486520 34486520 insertion of <=200bp - A intron_variant PACA-CA 9 34486520 34486520 insertion of <=200bp - A upstream_gene_variant PACA-CA 9 34487523 34487523 single base substitution G A intron_variant PACA-CA 9 34487523 34487523 single base substitution G A upstream_gene_variant PACA-CA 9 34490663 34490663 single base substitution T G downstream_gene_variant PACA-CA 9 34490663 34490663 single base substitution T G intron_variant PACA-CA 9 34490663 34490663 single base substitution T G upstream_gene_variant PACA-CA 9 34494801 34494801 single base substitution C T downstream_gene_variant PACA-CA 9 34494801 34494801 single base substitution C T intron_variant PACA-CA 9 34495436 34495436 single base substitution C T downstream_gene_variant PACA-CA 9 34495436 34495436 single base substitution C T intron_variant PACA-CA 9 34496542 34496542 single base substitution C T downstream_gene_variant PACA-CA 9 34496542 34496542 single base substitution C T intron_variant PACA-CA 9 34496626 34496626 single base substitution G A downstream_gene_variant PACA-CA 9 34496626 34496626 single base substitution G A intron_variant PACA-CA 9 34497039 34497039 single base substitution G T downstream_gene_variant PACA-CA 9 34497039 34497039 single base substitution G T intron_variant PACA-CA 9 34497166 34497166 single base substitution C T downstream_gene_variant PACA-CA 9 34497166 34497166 single base substitution C T synonymous_variant V279V 837C>T PACA-CA 9 34497166 34497166 single base substitution C T synonymous_variant V290V 870C>T PACA-CA 9 34497753 34497753 single base substitution C G downstream_gene_variant PACA-CA 9 34497753 34497753 single base substitution C G intron_variant PACA-CA 9 34499607 34499607 single base substitution G A downstream_gene_variant PACA-CA 9 34499607 34499607 single base substitution G A intron_variant PACA-CA 9 34504842 34504842 single base substitution C T intron_variant PACA-CA 9 34504842 34504842 single base substitution C T upstream_gene_variant PACA-CA 9 34509028 34509028 single base substitution C G intron_variant PACA-CA 9 34509028 34509028 single base substitution C G upstream_gene_variant PACA-CA 9 34512304 34512304 deletion of <=200bp C - intron_variant PACA-CA 9 34512304 34512304 deletion of <=200bp C - upstream_gene_variant PACA-CA 9 34516193 34516193 single base substitution A C intron_variant PACA-CA 9 34520702 34520702 single base substitution C T downstream_gene_variant PACA-CA 9 34520702 34520702 single base substitution C T missense_variant A125V 374C>T PACA-CA 9 34520702 34520702 single base substitution C T missense_variant A683V 2048C>T PACA-CA 9 34520703 34520703 single base substitution G A downstream_gene_variant PACA-CA 9 34520703 34520703 single base substitution G A synonymous_variant A125A 375G>A PACA-CA 9 34520703 34520703 single base substitution G A synonymous_variant A683A 2049G>A PACA-CA 9 34521996 34521996 single base substitution A G downstream_gene_variant PAEN-AU 9 34484470 34484470 single base substitution T G intron_variant PAEN-AU 9 34484470 34484470 single base substitution T G upstream_gene_variant PAEN-AU 9 34499360 34499360 single base substitution C T downstream_gene_variant PAEN-AU 9 34499360 34499360 single base substitution C T intron_variant PAEN-AU 9 34505986 34505986 single base substitution G T intron_variant PAEN-AU 9 34505986 34505986 single base substitution G T upstream_gene_variant PAEN-IT 9 34468622 34468622 single base substitution G C intron_variant PBCA-DE 9 34453548 34453548 single base substitution G A upstream_gene_variant PBCA-DE 9 34468242 34468252 deletion of <=200bp CGATCTCGGCT - intron_variant PBCA-DE 9 34474228 34474228 insertion of <=200bp - T intron_variant PBCA-DE 9 34487793 34487793 insertion of <=200bp - C intron_variant PBCA-DE 9 34487793 34487793 insertion of <=200bp - C upstream_gene_variant PBCA-DE 9 34489849 34489849 insertion of <=200bp - A downstream_gene_variant PBCA-DE 9 34489849 34489849 insertion of <=200bp - A intron_variant PBCA-DE 9 34489849 34489849 insertion of <=200bp - A upstream_gene_variant PBCA-DE 9 34510347 34510348 deletion of <=200bp GT - intron_variant PBCA-DE 9 34510347 34510348 deletion of <=200bp GT - upstream_gene_variant PBCA-DE 9 34520702 34520702 single base substitution C T downstream_gene_variant PBCA-DE 9 34520702 34520702 single base substitution C T missense_variant A125V 374C>T PBCA-DE 9 34520702 34520702 single base substitution C T missense_variant A683V 2048C>T PBCA-DE 9 34520874 34520874 single base substitution C G 3_prime_UTR_variant PBCA-DE 9 34520874 34520874 single base substitution C G downstream_gene_variant PBCA-DE 9 34523512 34523512 single base substitution G A downstream_gene_variant PBCA-DE 9 34524611 34524611 single base substitution G A downstream_gene_variant PRAD-CA 9 34478165 34478165 single base substitution G A intron_variant PRAD-UK 9 34455747 34455747 single base substitution T C upstream_gene_variant PRAD-UK 9 34458524 34458524 single base substitution C A intron_variant PRAD-UK 9 34458524 34458524 single base substitution C A upstream_gene_variant PRAD-UK 9 34474644 34474644 single base substitution G A intron_variant PRAD-UK 9 34477003 34477003 single base substitution G T intron_variant PRAD-UK 9 34496865 34496865 single base substitution C A downstream_gene_variant PRAD-UK 9 34496865 34496865 single base substitution C A intron_variant PRAD-UK 9 34498428 34498428 single base substitution C T downstream_gene_variant PRAD-UK 9 34498428 34498428 single base substitution C T intron_variant PRAD-UK 9 34500677 34500677 deletion of <=200bp A - downstream_gene_variant PRAD-UK 9 34500677 34500677 deletion of <=200bp A - intron_variant PRAD-UK 9 34523356 34523356 single base substitution C T downstream_gene_variant PRAD-US 9 34517405 34517405 single base substitution C T 3_prime_UTR_variant PRAD-US 9 34517405 34517405 single base substitution C T exon_variant PRAD-US 9 34517405 34517405 single base substitution C T intron_variant PRAD-US 9 34517405 34517405 single base substitution C T synonymous_variant G647G 1941C>T READ-US 9 34489432 34489432 single base substitution G A downstream_gene_variant READ-US 9 34489432 34489432 single base substitution G A exon_variant READ-US 9 34489432 34489432 single base substitution G A missense_variant D114N 340G>A READ-US 9 34489432 34489432 single base substitution G A missense_variant D125N 373G>A READ-US 9 34489432 34489432 single base substitution G A upstream_gene_variant READ-US 9 34490391 34490391 single base substitution G C downstream_gene_variant READ-US 9 34490391 34490391 single base substitution G C exon_variant READ-US 9 34490391 34490391 single base substitution G C missense_variant E165Q 493G>C READ-US 9 34490391 34490391 single base substitution G C missense_variant E176Q 526G>C READ-US 9 34490391 34490391 single base substitution G C upstream_gene_variant READ-US 9 34506660 34506660 single base substitution C T exon_variant READ-US 9 34506660 34506660 single base substitution C T missense_variant L367F 1099C>T READ-US 9 34520703 34520703 single base substitution G A downstream_gene_variant READ-US 9 34520703 34520703 single base substitution G A synonymous_variant A125A 375G>A READ-US 9 34520703 34520703 single base substitution G A synonymous_variant A683A 2049G>A RECA-EU 9 34461265 34461265 single base substitution G A intron_variant SKCA-BR 9 34454817 34454817 single base substitution C T upstream_gene_variant SKCA-BR 9 34455085 34455085 single base substitution G A upstream_gene_variant SKCA-BR 9 34456630 34456630 single base substitution G A upstream_gene_variant SKCA-BR 9 34458582 34458582 single base substitution C T intron_variant SKCA-BR 9 34458582 34458582 single base substitution C T upstream_gene_variant SKCA-BR 9 34463797 34463797 single base substitution G A intron_variant SKCA-BR 9 34464861 34464861 single base substitution G A intron_variant SKCA-BR 9 34467438 34467446 deletion of <=200bp TACACACAC - intron_variant SKCA-BR 9 34467658 34467658 single base substitution G A intron_variant SKCA-BR 9 34468107 34468107 single base substitution C T intron_variant SKCA-BR 9 34469258 34469259 deletion of <=200bp CT - intron_variant SKCA-BR 9 34471558 34471558 single base substitution G A intron_variant SKCA-BR 9 34472518 34472518 single base substitution A C intron_variant SKCA-BR 9 34473219 34473219 single base substitution C T intron_variant SKCA-BR 9 34477918 34477923 deletion of <=200bp CTCTCT - intron_variant SKCA-BR 9 34477921 34477922 deletion of <=200bp TC - intron_variant SKCA-BR 9 34477923 34477923 insertion of <=200bp - TC intron_variant SKCA-BR 9 34477924 34477924 single base substitution T C intron_variant SKCA-BR 9 34478075 34478075 single base substitution G A intron_variant SKCA-BR 9 34481967 34481967 single base substitution C T intron_variant SKCA-BR 9 34481967 34481967 single base substitution C T upstream_gene_variant SKCA-BR 9 34483096 34483096 single base substitution C T intron_variant SKCA-BR 9 34483096 34483096 single base substitution C T upstream_gene_variant SKCA-BR 9 34486575 34486575 single base substitution C T intron_variant SKCA-BR 9 34486575 34486575 single base substitution C T upstream_gene_variant SKCA-BR 9 34486744 34486744 single base substitution G A intron_variant SKCA-BR 9 34486744 34486744 single base substitution G A upstream_gene_variant SKCA-BR 9 34486786 34486786 single base substitution C T intron_variant SKCA-BR 9 34486786 34486786 single base substitution C T upstream_gene_variant SKCA-BR 9 34488848 34488848 single base substitution C T 3_prime_UTR_variant SKCA-BR 9 34488848 34488848 single base substitution C T downstream_gene_variant SKCA-BR 9 34488848 34488848 single base substitution C T intron_variant SKCA-BR 9 34488848 34488848 single base substitution C T upstream_gene_variant SKCA-BR 9 34489449 34489449 single base substitution T G downstream_gene_variant SKCA-BR 9 34489449 34489449 single base substitution T G splice_donor_variant SKCA-BR 9 34489449 34489449 single base substitution T G upstream_gene_variant SKCA-BR 9 34490079 34490079 single base substitution T C downstream_gene_variant SKCA-BR 9 34490079 34490079 single base substitution T C exon_variant SKCA-BR 9 34490079 34490079 single base substitution T C missense_variant L142S 425T>C SKCA-BR 9 34490079 34490079 single base substitution T C missense_variant L153S 458T>C SKCA-BR 9 34490079 34490079 single base substitution T C upstream_gene_variant SKCA-BR 9 34491113 34491113 single base substitution C T downstream_gene_variant SKCA-BR 9 34491113 34491113 single base substitution C T intron_variant SKCA-BR 9 34491113 34491113 single base substitution C T upstream_gene_variant SKCA-BR 9 34492489 34492489 insertion of <=200bp - AAGAT downstream_gene_variant SKCA-BR 9 34492489 34492489 insertion of <=200bp - AAGAT intron_variant SKCA-BR 9 34492491 34492491 insertion of <=200bp - GATATATAT downstream_gene_variant SKCA-BR 9 34492491 34492491 insertion of <=200bp - GATATATAT intron_variant SKCA-BR 9 34492493 34492493 single base substitution T G downstream_gene_variant SKCA-BR 9 34492493 34492493 single base substitution T G intron_variant SKCA-BR 9 34492495 34492495 single base substitution T G downstream_gene_variant SKCA-BR 9 34492495 34492495 single base substitution T G intron_variant SKCA-BR 9 34492503 34492503 single base substitution T G downstream_gene_variant SKCA-BR 9 34492503 34492503 single base substitution T G intron_variant SKCA-BR 9 34492881 34492881 insertion of <=200bp - GAT downstream_gene_variant SKCA-BR 9 34492881 34492881 insertion of <=200bp - GAT intron_variant SKCA-BR 9 34494597 34494597 single base substitution G A downstream_gene_variant SKCA-BR 9 34494597 34494597 single base substitution G A intron_variant SKCA-BR 9 34494674 34494674 single base substitution T C downstream_gene_variant SKCA-BR 9 34494674 34494674 single base substitution T C intron_variant SKCA-BR 9 34497500 34497500 single base substitution C T downstream_gene_variant SKCA-BR 9 34497500 34497500 single base substitution C T intron_variant SKCA-BR 9 34498358 34498358 single base substitution C T downstream_gene_variant SKCA-BR 9 34498358 34498358 single base substitution C T intron_variant SKCA-BR 9 34499536 34499536 single base substitution A G downstream_gene_variant SKCA-BR 9 34499536 34499536 single base substitution A G intron_variant SKCA-BR 9 34500363 34500363 single base substitution C T downstream_gene_variant SKCA-BR 9 34500363 34500363 single base substitution C T intron_variant SKCA-BR 9 34501784 34501784 single base substitution G A downstream_gene_variant SKCA-BR 9 34501784 34501784 single base substitution G A intron_variant SKCA-BR 9 34501784 34501784 single base substitution G A upstream_gene_variant SKCA-BR 9 34501874 34501874 single base substitution T C downstream_gene_variant SKCA-BR 9 34501874 34501874 single base substitution T C intron_variant SKCA-BR 9 34501874 34501874 single base substitution T C upstream_gene_variant SKCA-BR 9 34502377 34502377 single base substitution G A intron_variant SKCA-BR 9 34502377 34502377 single base substitution G A upstream_gene_variant SKCA-BR 9 34503530 34503530 single base substitution C T intron_variant SKCA-BR 9 34503530 34503530 single base substitution C T upstream_gene_variant SKCA-BR 9 34504224 34504224 single base substitution C T intron_variant SKCA-BR 9 34504224 34504224 single base substitution C T upstream_gene_variant SKCA-BR 9 34506070 34506070 single base substitution C T intron_variant SKCA-BR 9 34506070 34506070 single base substitution C T upstream_gene_variant SKCA-BR 9 34506476 34506476 single base substitution G A intron_variant SKCA-BR 9 34506476 34506476 single base substitution G A upstream_gene_variant SKCA-BR 9 34509897 34509897 insertion of <=200bp - CA intron_variant SKCA-BR 9 34509897 34509897 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 9 34513097 34513097 single base substitution C T intron_variant SKCA-BR 9 34513097 34513097 single base substitution C T upstream_gene_variant SKCA-BR 9 34514510 34514510 single base substitution G A exon_variant SKCA-BR 9 34514510 34514510 single base substitution G A intron_variant SKCA-BR 9 34514510 34514510 single base substitution G A stop_gained W563* 1688G>A SKCA-BR 9 34514510 34514510 single base substitution G A stop_gained W66* 197G>A SKCA-BR 9 34514511 34514511 single base substitution G A exon_variant SKCA-BR 9 34514511 34514511 single base substitution G A intron_variant SKCA-BR 9 34514511 34514511 single base substitution G A stop_gained W563* 1689G>A SKCA-BR 9 34514511 34514511 single base substitution G A stop_gained W66* 198G>A SKCA-BR 9 34514919 34514919 single base substitution C T intron_variant SKCA-BR 9 34516193 34516193 single base substitution A G intron_variant SKCA-BR 9 34516742 34516742 insertion of <=200bp - CTTTTCT intron_variant SKCA-BR 9 34517119 34517119 single base substitution G A intron_variant SKCA-BR 9 34518705 34518705 single base substitution G A downstream_gene_variant SKCA-BR 9 34518705 34518705 single base substitution G A intron_variant SKCA-BR 9 34518882 34518882 single base substitution G A downstream_gene_variant SKCA-BR 9 34518882 34518882 single base substitution G A intron_variant SKCA-BR 9 34520703 34520703 single base substitution G A downstream_gene_variant SKCA-BR 9 34520703 34520703 single base substitution G A synonymous_variant A125A 375G>A SKCA-BR 9 34520703 34520703 single base substitution G A synonymous_variant A683A 2049G>A SKCA-BR 9 34523130 34523130 single base substitution G A downstream_gene_variant SKCM-US 9 34485217 34485217 single base substitution C T exon_variant SKCM-US 9 34485217 34485217 single base substitution C T synonymous_variant D42D 126C>T SKCM-US 9 34485217 34485217 single base substitution C T synonymous_variant D53D 159C>T SKCM-US 9 34485444 34485444 single base substitution G A exon_variant SKCM-US 9 34485444 34485444 single base substitution G A missense_variant E53K 157G>A SKCM-US 9 34485444 34485444 single base substitution G A missense_variant E64K 190G>A SKCM-US 9 34490045 34490045 single base substitution G A downstream_gene_variant SKCM-US 9 34490045 34490045 single base substitution G A exon_variant SKCM-US 9 34490045 34490045 single base substitution G A missense_variant G131R 391G>A SKCM-US 9 34490045 34490045 single base substitution G A missense_variant G142R 424G>A SKCM-US 9 34490045 34490045 single base substitution G A upstream_gene_variant SKCM-US 9 34490046 34490046 single base substitution G A downstream_gene_variant SKCM-US 9 34490046 34490046 single base substitution G A exon_variant SKCM-US 9 34490046 34490046 single base substitution G A missense_variant G131E 392G>A SKCM-US 9 34490046 34490046 single base substitution G A missense_variant G142E 425G>A SKCM-US 9 34490046 34490046 single base substitution G A upstream_gene_variant SKCM-US 9 34490385 34490385 single base substitution G A downstream_gene_variant SKCM-US 9 34490385 34490385 single base substitution G A exon_variant SKCM-US 9 34490385 34490385 single base substitution G A missense_variant E163K 487G>A SKCM-US 9 34490385 34490385 single base substitution G A missense_variant E174K 520G>A SKCM-US 9 34490385 34490385 single base substitution G A upstream_gene_variant SKCM-US 9 34491552 34491552 single base substitution G A downstream_gene_variant SKCM-US 9 34491552 34491552 single base substitution G A splice_region_variant SKCM-US 9 34493208 34493208 single base substitution C T downstream_gene_variant SKCM-US 9 34493208 34493208 single base substitution C T exon_variant SKCM-US 9 34493208 34493208 single base substitution C T missense_variant A222V 665C>T SKCM-US 9 34493208 34493208 single base substitution C T missense_variant A233V 698C>T SKCM-US 9 34497151 34497151 single base substitution C T downstream_gene_variant SKCM-US 9 34497151 34497151 single base substitution C T synonymous_variant I274I 822C>T SKCM-US 9 34497151 34497151 single base substitution C T synonymous_variant I285I 855C>T SKCM-US 9 34500828 34500828 single base substitution C T downstream_gene_variant SKCM-US 9 34500828 34500828 single base substitution C T missense_variant A337V 1010C>T SKCM-US 9 34500829 34500829 single base substitution C T downstream_gene_variant SKCM-US 9 34500829 34500829 single base substitution C T synonymous_variant A337A 1011C>T SKCM-US 9 34501173 34501173 single base substitution G A downstream_gene_variant SKCM-US 9 34501173 34501173 single base substitution G A missense_variant G353S 1057G>A SKCM-US 9 34506686 34506686 single base substitution C T exon_variant SKCM-US 9 34506686 34506686 single base substitution C T synonymous_variant F375F 1125C>T SKCM-US 9 34506728 34506728 single base substitution C T exon_variant SKCM-US 9 34506728 34506728 single base substitution C T synonymous_variant L389L 1167C>T SKCM-US 9 34512373 34512373 single base substitution G C exon_variant SKCM-US 9 34512373 34512373 single base substitution G C synonymous_variant V480V 1440G>C SKCM-US 9 34512373 34512373 single base substitution G C upstream_gene_variant SKCM-US 9 34512395 34512395 single base substitution C T exon_variant SKCM-US 9 34512395 34512395 single base substitution C T missense_variant P488S 1462C>T SKCM-US 9 34512395 34512395 single base substitution C T upstream_gene_variant SKCM-US 9 34513176 34513176 single base substitution G A exon_variant SKCM-US 9 34513176 34513176 single base substitution G A missense_variant G22E 65G>A SKCM-US 9 34513176 34513176 single base substitution G A missense_variant G519E 1556G>A SKCM-US 9 34517295 34517295 single base substitution G T 3_prime_UTR_variant SKCM-US 9 34517295 34517295 single base substitution G T exon_variant SKCM-US 9 34517295 34517295 single base substitution G T intron_variant SKCM-US 9 34517295 34517295 single base substitution G T missense_variant D611Y 1831G>T SKCM-US 9 34517343 34517343 single base substitution G A 3_prime_UTR_variant SKCM-US 9 34517343 34517343 single base substitution G A exon_variant SKCM-US 9 34517343 34517343 single base substitution G A intron_variant SKCM-US 9 34517343 34517343 single base substitution G A missense_variant A627T 1879G>A SKCM-US 9 34517351 34517351 single base substitution G A 3_prime_UTR_variant SKCM-US 9 34517351 34517351 single base substitution G A exon_variant SKCM-US 9 34517351 34517351 single base substitution G A intron_variant SKCM-US 9 34517351 34517351 single base substitution G A synonymous_variant K629K 1887G>A SKCM-US 9 34521573 34521573 single base substitution C T downstream_gene_variant STAD-US 9 34491509 34491509 single base substitution C T downstream_gene_variant STAD-US 9 34491509 34491509 single base substitution C T exon_variant STAD-US 9 34491509 34491509 single base substitution C T missense_variant T202M 605C>T STAD-US 9 34491509 34491509 single base substitution C T missense_variant T213M 638C>T STAD-US 9 34491532 34491532 single base substitution T G downstream_gene_variant STAD-US 9 34491532 34491532 single base substitution T G exon_variant STAD-US 9 34491532 34491532 single base substitution T G missense_variant F210V 628T>G STAD-US 9 34491532 34491532 single base substitution T G missense_variant F221V 661T>G STAD-US 9 34500820 34500820 single base substitution C A downstream_gene_variant STAD-US 9 34500820 34500820 single base substitution C A synonymous_variant S334S 1002C>A STAD-US 9 34500839 34500839 single base substitution T G downstream_gene_variant STAD-US 9 34500839 34500839 single base substitution T G splice_donor_variant STAD-US 9 34506802 34506802 single base substitution A C exon_variant STAD-US 9 34506802 34506802 single base substitution A C missense_variant K414T 1241A>C STAD-US 9 34514714 34514714 single base substitution G A 3_prime_UTR_variant STAD-US 9 34514714 34514714 single base substitution G A exon_variant STAD-US 9 34514714 34514714 single base substitution G A missense_variant A102T 304G>A STAD-US 9 34514714 34514714 single base substitution G A missense_variant A599T 1795G>A STAD-US 9 34517452 34517452 single base substitution G A 3_prime_UTR_variant STAD-US 9 34517452 34517452 single base substitution G A exon_variant STAD-US 9 34517452 34517452 single base substitution G A intron_variant STAD-US 9 34517452 34517452 single base substitution G A missense_variant R663H 1988G>A STAD-US 9 34521482 34521482 single base substitution C T downstream_gene_variant STAD-US 9 34521556 34521556 single base substitution T C downstream_gene_variant STAD-US 9 34521676 34521676 single base substitution G T downstream_gene_variant UCEC-US 9 34459021 34459021 single base substitution G A intron_variant UCEC-US 9 34459021 34459021 single base substitution G A synonymous_variant A6A 18G>A UCEC-US 9 34490013 34490013 single base substitution C A downstream_gene_variant UCEC-US 9 34490013 34490013 single base substitution C A exon_variant UCEC-US 9 34490013 34490013 single base substitution C A missense_variant S120Y 359C>A UCEC-US 9 34490013 34490013 single base substitution C A missense_variant S131Y 392C>A UCEC-US 9 34490013 34490013 single base substitution C A upstream_gene_variant UCEC-US 9 34490022 34490022 single base substitution C A downstream_gene_variant UCEC-US 9 34490022 34490022 single base substitution C A exon_variant UCEC-US 9 34490022 34490022 single base substitution C A missense_variant S123Y 368C>A UCEC-US 9 34490022 34490022 single base substitution C A missense_variant S134Y 401C>A UCEC-US 9 34490022 34490022 single base substitution C A upstream_gene_variant UCEC-US 9 34490458 34490458 single base substitution C A downstream_gene_variant UCEC-US 9 34490458 34490458 single base substitution C A exon_variant UCEC-US 9 34490458 34490458 single base substitution C A missense_variant A187D 560C>A UCEC-US 9 34490458 34490458 single base substitution C A missense_variant A198D 593C>A UCEC-US 9 34490458 34490458 single base substitution C A upstream_gene_variant UCEC-US 9 34491513 34491513 single base substitution G A downstream_gene_variant UCEC-US 9 34491513 34491513 single base substitution G A exon_variant UCEC-US 9 34491513 34491513 single base substitution G A synonymous_variant E203E 609G>A UCEC-US 9 34491513 34491513 single base substitution G A synonymous_variant E214E 642G>A UCEC-US 9 34493263 34493263 single base substitution G T downstream_gene_variant UCEC-US 9 34493263 34493263 single base substitution G T exon_variant UCEC-US 9 34493263 34493263 single base substitution G T missense_variant K240N 720G>T UCEC-US 9 34493263 34493263 single base substitution G T missense_variant K251N 753G>T UCEC-US 9 34493294 34493294 single base substitution G A downstream_gene_variant UCEC-US 9 34493294 34493294 single base substitution G A exon_variant UCEC-US 9 34493294 34493294 single base substitution G A missense_variant A251T 751G>A UCEC-US 9 34493294 34493294 single base substitution G A missense_variant A262T 784G>A UCEC-US 9 34493322 34493322 single base substitution C A downstream_gene_variant UCEC-US 9 34493322 34493322 single base substitution C A exon_variant UCEC-US 9 34493322 34493322 single base substitution C A missense_variant S260Y 779C>A UCEC-US 9 34493322 34493322 single base substitution C A missense_variant S271Y 812C>A UCEC-US 9 34501143 34501143 single base substitution A C downstream_gene_variant UCEC-US 9 34501143 34501143 single base substitution A C missense_variant K343Q 1027A>C UCEC-US 9 34506703 34506703 single base substitution G A exon_variant UCEC-US 9 34506703 34506703 single base substitution G A missense_variant S381N 1142G>A UCEC-US 9 34506738 34506738 single base substitution G A exon_variant UCEC-US 9 34506738 34506738 single base substitution G A missense_variant V393M 1177G>A UCEC-US 9 34506854 34506854 single base substitution C T exon_variant UCEC-US 9 34506854 34506854 single base substitution C T synonymous_variant H431H 1293C>T UCEC-US 9 34512175 34512175 single base substitution T G exon_variant UCEC-US 9 34512175 34512175 single base substitution T G missense_variant I460M 1380T>G UCEC-US 9 34512175 34512175 single base substitution T G upstream_gene_variant UCEC-US 9 34512420 34512420 single base substitution T C missense_variant V496A 1487T>C UCEC-US 9 34512420 34512420 single base substitution T C splice_region_variant UCEC-US 9 34512420 34512420 single base substitution T C upstream_gene_variant UCEC-US 9 34514714 34514714 single base substitution G A 3_prime_UTR_variant UCEC-US 9 34514714 34514714 single base substitution G A exon_variant UCEC-US 9 34514714 34514714 single base substitution G A missense_variant A102T 304G>A UCEC-US 9 34514714 34514714 single base substitution G A missense_variant A599T 1795G>A UCEC-US 9 34517412 34517412 single base substitution C T 3_prime_UTR_variant UCEC-US 9 34517412 34517412 single base substitution C T exon_variant UCEC-US 9 34517412 34517412 single base substitution C T intron_variant UCEC-US 9 34517412 34517412 single base substitution C T missense_variant R650C 1948C>T UCEC-US 9 34517413 34517413 single base substitution G A 3_prime_UTR_variant UCEC-US 9 34517413 34517413 single base substitution G A exon_variant UCEC-US 9 34517413 34517413 single base substitution G A intron_variant UCEC-US 9 34517413 34517413 single base substitution G A missense_variant R650H 1949G>A UCEC-US 9 34517452 34517452 single base substitution G A 3_prime_UTR_variant UCEC-US 9 34517452 34517452 single base substitution G A exon_variant UCEC-US 9 34517452 34517452 single base substitution G A intron_variant UCEC-US 9 34517452 34517452 single base substitution G A missense_variant R663H 1988G>A UCEC-US 9 34521554 34521554 single base substitution G T downstream_gene_variant UCEC-US 9 34521558 34521558 insertion of <=200bp - AG downstream_gene_variant UCEC-US 9 34521654 34521654 single base substitution C T downstream_gene_variant UCEC-US 9 34522395 34522396 deletion of <=200bp GT - downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CSCC-31-T COSM4503827 c.649C>T p.P217S Substitution - Missense 9:34491522-34491522 + TCGA-AP-A054-01 COSM1108470 c.1293C>T p.H431H Substitution - coding silent 9:34506856-34506856 + TCGA-B0-5698-01 COSM487400 c.392C>T p.S131F Substitution - Missense 9:34490015-34490015 + RMS105_ COSM4986120 c.389-1G>C p.? Unknown 9:34490011-34490011 + KYSE510 COSM2773294 c.676A>C p.N226H Substitution - Missense 9:34491549-34491549 + TCGA-HU-A4GH-01 COSM1489960 c.1019+2T>G p.? Unknown 9:34500841-34500841 + TCGA-G3-A5SM-01 COSM4911259 c.1707C>T p.D569D Substitution - coding silent 9:34514531-34514531 + T3262 COSM4678619 c.191A>G p.E64G Substitution - Missense 9:34485447-34485447 + TCGA-FW-A3R5-06 COSM3926726 c.1167C>T p.L389L Substitution - coding silent 9:34506730-34506730 + CSCC-18-T COSM4542711 c.323G>A p.G108E Substitution - Missense 9:34489384-34489384 + PD18017a COSM5794238 c.1285G>A p.G429S Substitution - Missense 9:34506848-34506848 + TCGA-EE-A2GO-06 COSM3657027 c.855C>T p.I285I Substitution - coding silent 9:34497153-34497153 + 12-P8001 COSM4588798 c.1032C>T p.Y344Y Substitution - coding silent 9:34501150-34501150 + 2881_T COSM3952671 c.1855G>A p.A619T Substitution - Missense 9:34517321-34517321 + TCGA-B5-A0JY-01 COSM1108477 c.1988G>A p.R663H Substitution - Missense 9:34517454-34517454 + HX20T COSM3664314 c.1570-9C>T p.? Unknown 9:34514385-34514385 + TCGA-DA-A3F5-06 COSM3657026 c.681G>A p.Q227Q Substitution - coding silent 9:34491554-34491554 + TCGA-AA-3510-01 COSM1462128 c.358C>T p.R120W Substitution - Missense 9:34489419-34489419 + 420 COSM4432126 c.1519G>C p.E507Q Substitution - Missense 9:34513141-34513141 + TCGA-B5-A11E-01 COSM1108462 c.642G>A p.E214E Substitution - coding silent 9:34491515-34491515 + TCGA-43-2578-01 COSM753567 c.1808C>A p.T603K Substitution - Missense 9:34514729-34514729 + T3658 COSM4678621 c.1611C>T p.D537D Substitution - coding silent 9:34514435-34514435 + 2492702 COSM5599424 c.1254C>T p.S418S Substitution - coding silent 9:34506817-34506817 + ESCC-D13 COSM5045346 c.1172T>C p.I391T Substitution - Missense 9:34506735-34506735 + YUNEKI COSM3657028 c.1010C>T p.A337V Substitution - Missense 9:34500830-34500830 + TCGA-66-2758-01 COSM753574 c.723G>C p.Q241H Substitution - Missense 9:34493235-34493235 + TCGA-EB-A5SE-01 COSM3657028 c.1010C>T p.A337V Substitution - Missense 9:34500830-34500830 + ESO-0061 COSM1250431 c.661T>A p.F221I Substitution - Missense 9:34491534-34491534 + I2L-P26-Tumor-Organoid COSM5359486 c.1390A>C p.T464P Substitution - Missense 9:34512187-34512187 + ESCC_133 COSM5642633 c.1283C>T p.S428F Substitution - Missense 9:34506846-34506846 + RDES COSM4588796 c.644C>T p.P215L Substitution - Missense 9:34491517-34491517 + ESCC_46 COSM5630636 c.1630G>T p.D544Y Substitution - Missense 9:34514454-34514454 + PARFTR COSM3433107 c.2049G>A p.A683A Substitution - coding silent 9:34520705-34520705 + TCGA-FW-A3R5-06 COSM3926725 c.698C>T p.A233V Substitution - Missense 9:34493210-34493210 + CHC2358T COSM4953256 c.438A>G p.E146E Substitution - coding silent 9:34490061-34490061 + TCGA-EI-6917-01 COSM3433105 c.373G>A p.D125N Substitution - Missense 9:34489434-34489434 + sysucc-1383T COSM5765348 c.1305G>A p.V435V Substitution - coding silent 9:34506868-34506868 + Pat_06_A COSM2773284 c.229G>A p.A77T Substitution - Missense 9:34485485-34485485 + sysucc-627T COSM3982837 c.378A>G p.E126E Substitution - coding silent 9:34489439-34489439 + TCGA-22-4595-01 COSM753568 c.1612G>A p.A538T Substitution - Missense 9:34514436-34514436 + T3090 COSM4678622 c.1725G>A p.P575P Substitution - coding silent 9:34514646-34514646 + TCGA-AX-A05S-01 COSM1108468 c.1142G>A p.S381N Substitution - Missense 9:34506705-34506705 + TCGA-KK-A59V-01 COSM4878084 c.1941C>T p.G647G Substitution - coding silent 9:34517407-34517407 + TCGA-DY-A1DF-01 COSM1569283 c.526G>C p.E176Q Substitution - Missense 9:34490393-34490393 + tumor_4166706 COSM3953214 c.1152C>T p.S384S Substitution - coding silent 9:34506715-34506715 + TCGA-06-0142-01 COSM3413623 c.348T>A p.D116E Substitution - Missense 9:34489409-34489409 + 19M COSM5578428 c.940G>C p.D314H Substitution - Missense 9:34500760-34500760 + CSCC-15-T COSM4568365 c.1109T>C p.L370P Substitution - Missense 9:34506672-34506672 + ESCC_120 COSM5590636 c.625C>T p.R209* Substitution - Nonsense 9:34491498-34491498 + TCGA-AX-A0J1-01 COSM1108475 c.1948C>T p.R650C Substitution - Missense 9:34517414-34517414 + HCT15 COSM4633067 c.2022G>A p.V674V Substitution - coding silent 9:34520678-34520678 + 1_RESISTANT COSM1718661 c.1596C>T p.F532F Substitution - coding silent 9:34514420-34514420 + TCGA-AP-A0LM-01 COSM1108473 c.1795G>A p.A599T Substitution - Missense 9:34514716-34514716 + TCGA-BT-A20N-01 COSM422384 c.1587C>T p.S529S Substitution - coding silent 9:34514411-34514411 + CN-AML-CR-29-Dx COSM5424577 c.647C>T p.P216L Substitution - Missense 9:34491520-34491520 + 49M COSM5590636 c.625C>T p.R209* Substitution - Nonsense 9:34491498-34491498 + PT48 COSM5932384 c.674C>T p.A225V Substitution - Missense 9:34491547-34491547 + BCM783T COSM4799448 c.372C>T p.R124R Substitution - coding silent 9:34489433-34489433 + LUAD-S01345 COSM397383 c.65G>A p.R22K Substitution - Missense 9:34483464-34483464 + TCGA-D7-6822-01 COSM1108477 c.1988G>A p.R663H Substitution - Missense 9:34517454-34517454 + TCGA-BS-A0UL-01 COSM1108467 c.1122C>A p.S374R Substitution - Missense 9:34506685-34506685 + CHC2358T COSM4953256 c.438A>G p.E146E Substitution - coding silent 9:34490061-34490061 + ESCC-F84 COSM5048817 c.1414C>T p.H472Y Substitution - Missense 9:34512349-34512349 + TCGA-EE-A29E-06 COSM3657029 c.1011C>T p.A337A Substitution - coding silent 9:34500831-34500831 + TCGA-GM-A2DB-01 COSM3848411 c.1247C>T p.P416L Substitution - Missense 9:34506810-34506810 + TCGA-FS-A4F0-06 COSM3657033 c.1831G>T p.D611Y Substitution - Missense 9:34517297-34517297 + YUTEPA COSM1701059 c.1226C>T p.A409V Substitution - Missense 9:34506789-34506789 + GC_353T-GC_353N COSM4773462 c.737_739delAGA p.K247delK Deletion - In frame 9:34493249-34493251 + Au2 COSM5599424 c.1254C>T p.S418S Substitution - coding silent 9:34506817-34506817 + TCGA-D1-A16R-01 COSM1108461 c.622G>T p.D208Y Substitution - Missense 9:34491495-34491495 + TCGA-D9-A1JW-06 COSM2773307 c.1125C>T p.F375F Substitution - coding silent 9:34506688-34506688 + TCGA-AP-A0LM-01 COSM1108463 c.753G>T p.K251N Substitution - Missense 9:34493265-34493265 + Pat_76_A COSM5876155 c.622-1G>A p.? Unknown 9:34491494-34491494 + TCGA-BS-A0UL-01 COSM1108464 c.784G>A p.A262T Substitution - Missense 9:34493296-34493296 + 587284 COSM1204164 c.1396G>A p.V466M Substitution - Missense 9:34512193-34512193 + TCGA-GF-A6C9-06 COSM4532461 c.1887G>A p.K629K Substitution - coding silent 9:34517353-34517353 + TCGA-AX-A05Z-01 COSM1108471 c.1380T>G p.I460M Substitution - Missense 9:34512177-34512177 + I2L-P9-Tumor-Biopsy COSM5359721 c.433G>A p.E145K Substitution - Missense 9:34490056-34490056 + TCGA-CK-5916-01 COSM3699665 c.1524T>C p.I508I Substitution - coding silent 9:34513146-34513146 + SM-4B296 COSM4752579 c.367T>C p.Y123H Substitution - Missense 9:34489428-34489428 + TCGA-AB-2805-03 COSM362651 c.1215C>T p.D405D Substitution - coding silent 9:34506778-34506778 + ME016T COSM224966 c.508G>A p.E170K Substitution - Missense 9:34490375-34490375 + TCGA-BS-A0UF-01 COSM1108465 c.812C>A p.S271Y Substitution - Missense 9:34493324-34493324 + Au4 COSM5603413 c.640G>A p.E214K Substitution - Missense 9:34491513-34491513 + TCGA-AA-A010-01 COSM280520 c.983A>G p.D328G Substitution - Missense 9:34500803-34500803 + CRC-06T COSM5457578 c.1782_1783delTT p.S595fs*16 Deletion - Frameshift 9:34514703-34514704 + Au10 COSM5598240 c.466G>A p.E156K Substitution - Missense 9:34490089-34490089 + TCGA-A8-A0A6-01 COSM3848412 c.1719-10A>C p.? Unknown 9:34514630-34514630 + RDES COSM4588797 c.1016G>T p.C339F Substitution - Missense 9:34500836-34500836 + LUAD-NYU408 COSM374673 c.130C>A p.Q44K Substitution - Missense 9:34485190-34485190 + CN-AML-NR-15-Dx COSM5424577 c.647C>T p.P216L Substitution - Missense 9:34491520-34491520 + LUAD-B01811 COSM334936 c.992A>T p.K331M Substitution - Missense 9:34500812-34500812 + TCGA-DK-A3WW-01 COSM3779974 c.373G>C p.D125H Substitution - Missense 9:34489434-34489434 + TCGA-AM-5821-01 COSM2773322 c.1599C>T p.L533L Substitution - coding silent 9:34514423-34514423 + ZZUFHECRKL-G033T COSM5437729 c.194A>T p.E65V Substitution - Missense 9:34485450-34485450 + TCGA-FW-A3R5-06 COSM3926727 c.1556G>A p.G519E Substitution - Missense 9:34513178-34513178 + TCGA-C5-A1MH-01 COSM4821135 c.1005C>G p.V335V Substitution - coding silent 9:34500825-34500825 + TCGA-FS-A1ZW-06 COSM3657034 c.1879G>A p.A627T Substitution - Missense 9:34517345-34517345 + TCGA-EE-A2MR-06 COSM3657024 c.424G>A p.G142R Substitution - Missense 9:34490047-34490047 + TCGA-33-4566-01 COSM753572 c.789G>T p.M263I Substitution - Missense 9:34493301-34493301 + CHEWS014 COSM4588795 c.48+1_48+2insT p.? Unknown 9:34459054-34459055 + S00829 COSM5660184 c.1896C>T p.L632L Substitution - coding silent 9:34517362-34517362 + sysucc-834T COSM5486736 c.1570-7C>T p.? Unknown 9:34514387-34514387 + TCGA-D3-A5GO-06 COSM3657025 c.520G>A p.E174K Substitution - Missense 9:34490387-34490387 + BD19T COSM362651 c.1215C>T p.D405D Substitution - coding silent 9:34506778-34506778 + TCGA-BR-8487-01 COSM3907018 c.1002C>A p.S334S Substitution - coding silent 9:34500822-34500822 + I2L-P9-Tumor-Organoid COSM5359721 c.433G>A p.E145K Substitution - Missense 9:34490056-34490056 + BD72T COSM5512573 c.228C>T p.H76H Substitution - coding silent 9:34485484-34485484 + TCGA-BH-A0B6-01 COSM3848408 c.65G>C p.R22T Substitution - Missense 9:34483464-34483464 + TCGA-F5-6864-01 COSM3433107 c.2049G>A p.A683A Substitution - coding silent 9:34520705-34520705 + TCGA-A8-A09Z-01 COSM3848410 c.863G>A p.R288Q Substitution - Missense 9:34497161-34497161 + TCGA-HU-8602-01 COSM3907017 c.638C>T p.T213M Substitution - Missense 9:34491511-34491511 + TCGA-GV-A3QI-01 COSM1314787 c.1716C>G p.I572M Substitution - Missense 9:34514540-34514540 + TCGA-BS-A0UV-01 COSM1108458 c.392C>A p.S131Y Substitution - Missense 9:34490015-34490015 + ZZUFHECRKL-G026T COSM5435751 c.1004T>A p.V335D Substitution - Missense 9:34500824-34500824 + CSCC-56-T COSM4532461 c.1887G>A p.K629K Substitution - coding silent 9:34517353-34517353 + TCGA-BH-A2L8-01 COSM3848409 c.687G>A p.E229E Substitution - coding silent 9:34493199-34493199 + PCSI_0080_Pa_X COSM3782238 c.428A>G p.N143S Substitution - Missense 9:34490051-34490051 + TCGA-E9-A22E-01 COSM1489962 c.1688G>A p.W563* Substitution - Nonsense 9:34514512-34514512 + TCGA-AZ-4315-01 COSM1462132 c.1987C>T p.R663C Substitution - Missense 9:34517453-34517453 + TCGA-AA-A010-01 COSM280519 c.371G>A p.R124H Substitution - Missense 9:34489432-34489432 + TCGA-AA-3492-01 COSM1108475 c.1948C>T p.R650C Substitution - Missense 9:34517414-34517414 + TCGA-AA-A010-01 COSM280521 c.1496G>A p.G499D Substitution - Missense 9:34513118-34513118 + TCGA-D9-A6EA-06 COSM4398014 c.425G>A p.G142E Substitution - Missense 9:34490048-34490048 + MO_1013 COSM5569645 c.818C>G p.T273S Substitution - Missense 9:34497116-34497116 + TCGA-BS-A0UF-01 COSM1108457 c.18G>A p.A6A Substitution - coding silent 9:34459023-34459023 + ME029T COSM226650 c.496G>A p.A166T Substitution - Missense 9:34490119-34490119 + N744T COSM236411 c.1848G>T p.K616N Substitution - Missense 9:34517314-34517314 + TCGA-D1-A0ZP-01 COSM1108474 c.1881C>A p.A627A Substitution - coding silent 9:34517347-34517347 + EGC15 COSM5063914 c.1683C>T p.S561S Substitution - coding silent 9:34514507-34514507 + S02093 COSM5673301 c.1337A>G p.D446G Substitution - Missense 9:34512134-34512134 + TCGA-B5-A0JY-01 COSM1108466 c.1027A>C p.K343Q Substitution - Missense 9:34501145-34501145 + HT115 COSM2773314 c.1330G>T p.D444Y Substitution - Missense 9:34512127-34512127 + SNUH_G10_S1 COSM3982837 c.378A>G p.E126E Substitution - coding silent 9:34489439-34489439 + TCGA-D9-A6EC-06 COSM4401954 c.190G>A p.E64K Substitution - Missense 9:34485446-34485446 + T2269 COSM4678620 c.1168G>A p.D390N Substitution - Missense 9:34506731-34506731 + TCGA-AP-A0LM-01 COSM1108476 c.1949G>A p.R650H Substitution - Missense 9:34517415-34517415 + PR-09-2767 COSM244100 c.1399A>T p.K467* Substitution - Nonsense 9:34512196-34512196 + TCGA-18-3409-01 COSM753569 c.1543G>A p.G515S Substitution - Missense 9:34513165-34513165 + TCGA-BS-A0TG-01 COSM1108472 c.1487T>C p.V496A Substitution - Missense 9:34512422-34512422 + TCGA-EB-A553-01 COSM3657031 c.1440G>C p.V480V Substitution - coding silent 9:34512375-34512375 + 2492701 COSM5599424 c.1254C>T p.S418S Substitution - coding silent 9:34506817-34506817 + I2L-P8-Tumor-Biopsy COSM1108469 c.1177G>A p.V393M Substitution - Missense 9:34506740-34506740 + BCM783T COSM4799448 c.372C>T p.R124R Substitution - coding silent 9:34489433-34489433 + ccRCC-57 COSM1661508 c.416C>A p.S139* Substitution - Nonsense 9:34490039-34490039 + SNU-C4 COSM4654495 c.285C>A p.G95G Substitution - coding silent 9:34489346-34489346 + TCGA-E2-A1LL-01 COSM1489960 c.1019+2T>G p.? Unknown 9:34500841-34500841 + B106 COSM1745431 c.947_948insA p.T318fs*11 Insertion - Frameshift 9:34500767-34500768 + TCGA-BR-4184-01 COSM1108473 c.1795G>A p.A599T Substitution - Missense 9:34514716-34514716 + TCGA-AP-A056-01 COSM1108460 c.593C>A p.A198D Substitution - Missense 9:34490460-34490460 + TCGA-D8-A1JP-01 COSM1489961 c.1625C>G p.S542* Substitution - Nonsense 9:34514449-34514449 + B89-12-Tumor COSM1756147 c.301G>C p.A101P Substitution - Missense 9:34489362-34489362 + Pat_76_B COSM5876155 c.622-1G>A p.? Unknown 9:34491494-34491494 + TCGA-66-2792-01 COSM753573 c.754A>G p.T252A Substitution - Missense 9:34493266-34493266 + STC291 COSM5063913 c.1127C>A p.P376H Substitution - Missense 9:34506690-34506690 + TCGA-D9-A6EC-06 COSM4401698 c.159C>T p.D53D Substitution - coding silent 9:34485219-34485219 + TCGA-AA-3510-01 COSM1108458 c.392C>A p.S131Y Substitution - Missense 9:34490015-34490015 + CN-AML-15-T COSM5424577 c.647C>T p.P216L Substitution - Missense 9:34491520-34491520 + PCSI_0287_Pa_P_526 COSM4807432 c.2048C>T p.A683V Substitution - Missense 9:34520704-34520704 + TCGA-33-4533-01 COSM753570 c.1219A>C p.N407H Substitution - Missense 9:34506782-34506782 + SNU-175 COSM2773284 c.229G>A p.A77T Substitution - Missense 9:34485485-34485485 + LUAD-CHTN-Z4716A COSM362651 c.1215C>T p.D405D Substitution - coding silent 9:34506778-34506778 + ACINAR28 COSM1734317 c.1937T>C p.V646A Substitution - Missense 9:34517403-34517403 + YUKAE COSM5411023 c.189G>A p.K63K Substitution - coding silent 9:34485445-34485445 + TCGA-AP-A051-01 COSM1108459 c.401C>A p.S134Y Substitution - Missense 9:34490024-34490024 + Au4 COSM5603412 c.203G>A p.R68Q Substitution - Missense 9:34485459-34485459 + TCGA-AD-6889-01 COSM1462130 c.1468G>T p.G490W Substitution - Missense 9:34512403-34512403 + TCGA-CG-4444-01 COSM3907019 c.1241A>C p.K414T Substitution - Missense 9:34506804-34506804 + TCGA-A8-A07R-01 COSM455868 c.996C>A p.R332R Substitution - coding silent 9:34500816-34500816 + ACINAR01 COSM1734316 c.501+2T>C p.? Unknown 9:34490126-34490126 + LUAD-D01603 COSM338110 c.1537C>A p.L513I Substitution - Missense 9:34513159-34513159 + PT37 COSM5919706 c.817-8C>T p.? Unknown 9:34497107-34497107 + TCGA-B5-A0K7-01 COSM1108469 c.1177G>A p.V393M Substitution - Missense 9:34506740-34506740 + CSCC-55-T COSM2773324 c.1815G>A p.G605G Substitution - coding silent 9:34514736-34514736 + TCGA-F5-6814-01 COSM3433106 c.1099C>T p.L367F Substitution - Missense 9:34506662-34506662 + TCGA-AK-3450-01 COSM3367697 c.1651T>C p.Y551H Substitution - Missense 9:34514475-34514475 + pfg145T COSM4752579 c.367T>C p.Y123H Substitution - Missense 9:34489428-34489428 + PT36 COSM5915831 c.622-6C>T p.? Unknown 9:34491489-34491489 + I2L-P8-Tumor-Organoid COSM1108469 c.1177G>A p.V393M Substitution - Missense 9:34506740-34506740 + TCGA-CC-A1HT-01 COSM2773309 c.1156G>A p.V386I Substitution - Missense 9:34506719-34506719 + D38 COSM5546304 c.334C>T p.P112S Substitution - Missense 9:34489395-34489395 + CSCC-38-T COSM4558680 c.776G>A p.G259E Substitution - Missense 9:34493288-34493288 + sysucc-880T COSM3982837 c.378A>G p.E126E Substitution - coding silent 9:34489439-34489439 + 1_PRE-TREATMENT COSM1718661 c.1596C>T p.F532F Substitution - coding silent 9:34514420-34514420 + 2293782 COSM4609457 c.523G>T p.E175* Substitution - Nonsense 9:34490390-34490390 + BD114T COSM5503454 c.786C>T p.A262A Substitution - coding silent 9:34493298-34493298 + TCGA-BR-8589-01 COSM2773293 c.661T>G p.F221V Substitution - Missense 9:34491534-34491534 + B89-12 COSM1756147 c.301G>C p.A101P Substitution - Missense 9:34489362-34489362 + 2492703 COSM5599424 c.1254C>T p.S418S Substitution - coding silent 9:34506817-34506817 + T2269 COSM4678623 c.1794C>T p.F598F Substitution - coding silent 9:34514715-34514715 + PT48 COSM5932385 c.2001+6G>A p.? Unknown 9:34517473-34517473 + TCGA-GN-A26C-01 COSM3657030 c.1057G>A p.G353S Substitution - Missense 9:34501175-34501175 + YULAPE COSM1701058 c.1127C>T p.P376L Substitution - Missense 9:34506690-34506690 + 19 COSM5746977 c.286T>G p.F96V Substitution - Missense 9:34489347-34489347 + YUMOKI COSM3657027 c.855C>T p.I285I Substitution - coding silent 9:34497153-34497153 + TCGA-EE-A3J5-06 COSM3657032 c.1462C>T p.P488S Substitution - Missense 9:34512397-34512397 + CRC-19T COSM5482267 c.1221C>T p.N407N Substitution - coding silent 9:34506784-34506784 + 2492700 COSM5599424 c.1254C>T p.S418S Substitution - coding silent 9:34506817-34506817 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.112662;Hs.112667 9p13.3 604366

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K414T c.1241A>C 9 34506802 STAD A C Missense p.N407H c.1219A>C 9 34506780 LUSC A G Missense p.D356G c.1067A>G 9 34506628 HNSC A G Missense p.M541V c.1621A>G 9 34514443 LUAD A G Missense p.R264G c.790A>G 9 34493300 HNSC A G Missense p.T252A c.754A>G 9 34493264 LUSC C A Missense p.A600E c.1799C>A 9 34514718 HNSC C A Missense p.P575Q c.1724C>A 9 34514643 CM C A Missense p.T603K c.1808C>A 9 34514727 LUSC C A Synonymous p.P183P c.549C>A 9 34490414 HNSC C A Synonymous p.R332R c.996C>A 9 34500814 BRCA C G Missense p.H552D c.1654C>G 9 34514476 LUAD C G Missense p.I572M c.1716C>G 9 34514538 BLCA C G Nonsense p.S542* c.1625C>G 9 34514447 BRCA C T IntronicSNV . c.262-859C>T 9 34488462 HC C T IntronicSNV . c.82-20C>T 9 34485120 CM C T Missense p.P217S c.649C>T 9 34491520 CM C T Missense p.P434S c.1300C>T 9 34506861 LUAD C T Missense p.P488S c.1462C>T 9 34512395 CM C T Missense p.R124C c.370C>T 9 34489429 COREAD C T Missense p.S131F c.392C>T 9 34490013 RCCC C T Missense p.T485M c.1454C>T 9 34512387 COREAD C T Synonymous p.D405D c.1215C>T 9 34506776 AML C T Synonymous p.F375F c.1125C>T 9 34506686 CM C T Synonymous p.H431H c.1293C>T 9 34506854 UCEC C T Synonymous p.I285I c.855C>T 9 34497151 CM C T Synonymous p.S529S c.1587C>T 9 34514409 BLCA G A IntronicSNV . c.2001+1070G>A 9 34518535 CLL G A Missense p.A262T c.784G>A 9 34493294 UCEC G A Missense p.A538T c.1612G>A 9 34514434 LUSC G A Missense p.A627T c.1879G>A 9 34517343 CM G A Missense p.D474N c.1420G>A 9 34512353 CM G A Missense p.E170K c.508G>A 9 34490373 CM G A Missense p.G353S c.1057G>A 9 34501173 CM G A Missense p.R663H c.1988G>A 9 34517452 STAD G A Missense p.S381N c.1142G>A 9 34506703 UCEC G A Missense p.V393M c.1177G>A 9 34506738 UCEC G A Nonsense p.W563* c.1688G>A 9 34514510 BRCA G A Synonymous p.Q227Q c.681G>A 9 34491552 CM G C Missense p.Q241H c.723G>C 9 34493233 LUSC G T Synonymous p.L333L c.999G>T 9 34500817 LUAD T A Missense p.D116E c.348T>A 9 34489407 GBM T A Missense p.F221I c.661T>A 9 34491532 ESCA T C Missense p.F532L c.1594T>C 9 34514416 AML T C Missense p.V496A c.1487T>C 9 34512420 UCEC T C Missense p.Y551H c.1651T>C 9 34514473 RCCC T G Missense p.Y91D c.271T>G 9 34489330 CM T G SpliceDonorSNV . c.1019+2T>G 9 34500839 BRCA