Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 9 82267520 82267520 + Missense_Mutation SNP G G A TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr9:82267520G>A c.403G>A c.(403-405)Gcc>Acc p.A135T ACC 9 82267611 82267611 + Missense_Mutation SNP G G C TCGA-OR-A5K9-01A-11D-A29I-10 TCGA-OR-A5K9-11A-11D-A29L-10 g.chr9:82267611G>C c.494G>C c.(493-495)aGc>aCc p.S165T ACC 9 82267635 82267635 + Missense_Mutation SNP C C T TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr9:82267635C>T c.518C>T c.(517-519)tCc>tTc p.S173F ACC 9 82321726 82321726 + Missense_Mutation SNP G G T TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr9:82321726G>T c.848G>T c.(847-849)cGc>cTc p.R283L BLCA 9 82267521 82267521 + Frame_Shift_Del DEL C C - TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 g.chr9:82267521delC c.404delC c.(403-405)gccfs p.A135fs BLCA 9 82267559 82267559 + Missense_Mutation SNP C C G TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr9:82267559C>G c.442C>G c.(442-444)Ctg>Gtg p.L148V BLCA 9 82267576 82267576 + Silent SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 g.chr9:82267576A>G c.459A>G c.(457-459)tcA>tcG p.S153S BLCA 9 82321747 82321747 + Missense_Mutation SNP C C T TCGA-4Z-AA89-01A-11D-A391-08 TCGA-4Z-AA89-10A-01D-A394-08 g.chr9:82321747C>T c.869C>T c.(868-870)cCg>cTg p.P290L BLCA 9 82335206 82335206 + Silent SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 g.chr9:82335206G>A c.1836G>A c.(1834-1836)gtG>gtA p.V612V BLCA 9 82337373 82337373 + Missense_Mutation SNP C C T TCGA-E7-A541-01A-11D-A26M-08 TCGA-E7-A541-10A-01D-A26K-08 g.chr9:82337373C>T c.1994C>T c.(1993-1995)tCt>tTt p.S665F BRCA 9 82227582 82227582 + Silent SNP C C T TCGA-A2-A0YG-01A-21D-A10G-09 TCGA-A2-A0YG-10A-01D-A10G-09 g.chr9:82227582C>T c.264C>T c.(262-264)gtC>gtT p.V88V BRCA 9 82320815 82320815 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr9:82320815T>G c.741T>G c.(739-741)ggT>ggG p.G247G BRCA 9 82323054 82323054 + Missense_Mutation SNP G G T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 g.chr9:82323054G>T c.958G>T c.(958-960)Gtc>Ttc p.V320F CESC 9 82323087 82323087 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr9:82323087G>A c.991G>A c.(991-993)Gat>Aat p.D331N CESC 9 82323513 82323513 + Missense_Mutation SNP A A G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 g.chr9:82323513A>G c.1075A>G c.(1075-1077)Agc>Ggc p.S359G CESC 9 82323635 82323635 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr9:82323635C>G c.1197C>G c.(1195-1197)atC>atG p.I399M CHOL 9 82188691 82188691 + Missense_Mutation SNP C C G TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr9:82188691C>G c.133C>G c.(133-135)Caa>Gaa p.Q45E COAD 9 82189837 82189837 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr9:82189837C>T c.193C>T c.(193-195)Cgg>Tgg p.R65W COAD 9 82191060 82191060 + Missense_Mutation SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr9:82191060T>C c.220T>C c.(220-222)Tcc>Ccc p.S74P COAD 9 82242304 82242304 + Missense_Mutation SNP G G A TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr9:82242304G>A c.331G>A c.(331-333)Gtg>Atg p.V111M COAD 9 82267590 82267590 + Missense_Mutation SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr9:82267590C>T c.473C>T c.(472-474)cCt>cTt p.P158L COAD 9 82267593 82267593 + Missense_Mutation SNP C C G TCGA-AA-3511-01A-21D-1835-10 TCGA-AA-3511-11A-01D-1835-10 g.chr9:82267593C>G c.476C>G c.(475-477)gCc>gGc p.A159G COAD 9 82267606 82267606 + Silent SNP C C T TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr9:82267606C>T c.489C>T c.(487-489)atC>atT p.I163I COAD 9 82267619 82267619 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr9:82267619G>A c.502G>A c.(502-504)Ggg>Agg p.G168R COAD 9 82319728 82319728 + Nonsense_Mutation SNP C C T TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chr9:82319728C>T c.640C>T c.(640-642)Cga>Tga p.R214* COAD 9 82319729 82319729 + Missense_Mutation SNP G G A TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr9:82319729G>A c.641G>A c.(640-642)cGa>cAa p.R214Q COAD 9 82321725 82321725 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr9:82321725C>T c.847C>T c.(847-849)Cgc>Tgc p.R283C COAD 9 82323587 82323587 + Silent SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr9:82323587C>T c.1149C>T c.(1147-1149)aaC>aaT p.N383N COAD 9 82323594 82323594 + Silent SNP C C T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr9:82323594C>T c.1156C>T c.(1156-1158)Ctg>Ttg p.L386L COAD 9 82324566 82324566 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr9:82324566G>A c.1292G>A c.(1291-1293)cGt>cAt p.R431H COAD 9 82333771 82333771 + Missense_Mutation SNP C C T TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr9:82333771C>T c.1475C>T c.(1474-1476)gCg>gTg p.A492V COAD 9 82333864 82333864 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr9:82333864C>T c.1568C>T c.(1567-1569)cCt>cTt p.P523L COAD 9 82335073 82335073 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr9:82335073G>A c.1703G>A c.(1702-1704)cGc>cAc p.R568H COAD 9 82335192 82335192 + Missense_Mutation SNP A A T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr9:82335192A>T c.1822A>T c.(1822-1824)Aac>Tac p.N608Y COAD 9 82337413 82337413 + Silent SNP G G T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr9:82337413G>T c.2034G>T c.(2032-2034)ggG>ggT p.G678G COADREAD 9 82188608 82188608 + Missense_Mutation SNP C C A TCGA-AG-A01W-01A-21W-A096-10 TCGA-AG-A01W-11A-11W-A096-10 g.chr9:82188608C>A c.50C>A c.(49-51)cCg>cAg p.P17Q COADREAD 9 82189837 82189837 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr9:82189837C>T c.193C>T c.(193-195)Cgg>Tgg p.R65W COADREAD 9 82191060 82191060 + Missense_Mutation SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr9:82191060T>C c.220T>C c.(220-222)Tcc>Ccc p.S74P COADREAD 9 82242304 82242304 + Missense_Mutation SNP G G A TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr9:82242304G>A c.331G>A c.(331-333)Gtg>Atg p.V111M COADREAD 9 82267590 82267590 + Missense_Mutation SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr9:82267590C>T c.473C>T c.(472-474)cCt>cTt p.P158L COADREAD 9 82267593 82267593 + Missense_Mutation SNP C C G TCGA-AA-3511-01A-21D-1835-10 TCGA-AA-3511-11A-01D-1835-10 g.chr9:82267593C>G c.476C>G c.(475-477)gCc>gGc p.A159G COADREAD 9 82267606 82267606 + Silent SNP C C T TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr9:82267606C>T c.489C>T c.(487-489)atC>atT p.I163I COADREAD 9 82267619 82267619 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr9:82267619G>A c.502G>A c.(502-504)Ggg>Agg p.G168R COADREAD 9 82319728 82319728 + Nonsense_Mutation SNP C C T TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chr9:82319728C>T c.640C>T c.(640-642)Cga>Tga p.R214* COADREAD 9 82319729 82319729 + Missense_Mutation SNP G G A TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr9:82319729G>A c.641G>A c.(640-642)cGa>cAa p.R214Q COADREAD 9 82321725 82321725 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr9:82321725C>T c.847C>T c.(847-849)Cgc>Tgc p.R283C COADREAD 9 82323587 82323587 + Silent SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr9:82323587C>T c.1149C>T c.(1147-1149)aaC>aaT p.N383N COADREAD 9 82323594 82323594 + Silent SNP C C T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr9:82323594C>T c.1156C>T c.(1156-1158)Ctg>Ttg p.L386L COADREAD 9 82324566 82324566 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr9:82324566G>A c.1292G>A c.(1291-1293)cGt>cAt p.R431H COADREAD 9 82333771 82333771 + Missense_Mutation SNP C C T TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr9:82333771C>T c.1475C>T c.(1474-1476)gCg>gTg p.A492V COADREAD 9 82333864 82333864 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr9:82333864C>T c.1568C>T c.(1567-1569)cCt>cTt p.P523L COADREAD 9 82335073 82335073 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr9:82335073G>A c.1703G>A c.(1702-1704)cGc>cAc p.R568H COADREAD 9 82335192 82335192 + Missense_Mutation SNP A A T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr9:82335192A>T c.1822A>T c.(1822-1824)Aac>Tac p.N608Y COADREAD 9 82336719 82336719 + Silent SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr9:82336719C>A c.1902C>A c.(1900-1902)ctC>ctA p.L634L COADREAD 9 82337413 82337413 + Silent SNP G G T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr9:82337413G>T c.2034G>T c.(2032-2034)ggG>ggT p.G678G DLBC 9 82337469 82337469 + Missense_Mutation SNP T T G TCGA-FF-8041-01A-11D-2210-10 TCGA-FF-8041-10A-01D-2210-10 g.chr9:82337469T>G c.2090T>G c.(2089-2091)cTa>cGa p.L697R ESCA 9 82267549 82267549 + Silent SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 g.chr9:82267549C>T c.432C>T c.(430-432)ctC>ctT p.L144L ESCA 9 82321669 82321669 + Missense_Mutation SNP C C A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 g.chr9:82321669C>A c.791C>A c.(790-792)tCt>tAt p.S264Y ESCA 9 82335074 82335074 + Silent SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 g.chr9:82335074C>T c.1704C>T c.(1702-1704)cgC>cgT p.R568R ESCA 9 82336678 82336678 + Nonsense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 g.chr9:82336678G>T c.1861G>T c.(1861-1863)Gga>Tga p.G621* ESCA 9 82336710 82336710 + Silent SNP C C T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 g.chr9:82336710C>T c.1893C>T c.(1891-1893)ggC>ggT p.G631G ESCA 9 82336771 82336771 + Silent SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 g.chr9:82336771C>A c.1954C>A c.(1954-1956)Cgg>Agg p.R652R GBM 9 82227600 82227600 + Silent SNP C C T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 g.chr9:82227600C>T c.282C>T c.(280-282)atC>atT p.I94I GBM 9 82324566 82324566 + Missense_Mutation SNP G G A TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 g.chr9:82324566G>A c.1292G>A c.(1291-1293)cGt>cAt p.R431H GBM 9 82333807 82333807 + Missense_Mutation SNP C C T TCGA-06-5859-01A-01D-1696-08 TCGA-06-5859-10A-01D-1696-08 g.chr9:82333807C>T c.1511C>T c.(1510-1512)aCg>aTg p.T504M GBMLGG 9 82187749 82187749 + Splice_Site SNP C C A TCGA-E1-A7YV-01A-11D-A34J-08 TCGA-E1-A7YV-10A-01D-A34M-08 g.chr9:82187749C>A c.44C>A c.(43-45)cCa>cAa p.P15Q GBMLGG 9 82227600 82227600 + Silent SNP C C T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 g.chr9:82227600C>T c.282C>T c.(280-282)atC>atT p.I94I GBMLGG 9 82323125 82323125 + Missense_Mutation SNP G G T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 g.chr9:82323125G>T c.1029G>T c.(1027-1029)ttG>ttT p.L343F GBMLGG 9 82324566 82324566 + Missense_Mutation SNP G G A TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 g.chr9:82324566G>A c.1292G>A c.(1291-1293)cGt>cAt p.R431H GBMLGG 9 82333807 82333807 + Missense_Mutation SNP C C T TCGA-06-5859-01A-01D-1696-08 TCGA-06-5859-10A-01D-1696-08 g.chr9:82333807C>T c.1511C>T c.(1510-1512)aCg>aTg p.T504M GBMLGG 9 82336786 82336786 + Missense_Mutation SNP C C T TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 g.chr9:82336786C>T c.1969C>T c.(1969-1971)Cac>Tac p.H657Y GBMLGG 9 82337427 82337427 + Missense_Mutation SNP A A G TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 g.chr9:82337427A>G c.2048A>G c.(2047-2049)aAt>aGt p.N683S HNSC 9 82187743 82187743 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 g.chr9:82187743G>A c.38G>A c.(37-39)aGa>aAa p.R13K HNSC 9 82227616 82227616 + Missense_Mutation SNP C C G TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chr9:82227616C>G c.298C>G c.(298-300)Cct>Gct p.P100A HNSC 9 82267635 82267635 + Missense_Mutation SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr9:82267635C>T c.518C>T c.(517-519)tCc>tTc p.S173F HNSC 9 82320810 82320810 + Missense_Mutation SNP G G T TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 g.chr9:82320810G>T c.736G>T c.(736-738)Gat>Tat p.D246Y HNSC 9 82320843 82320843 + Missense_Mutation SNP G G C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 g.chr9:82320843G>C c.769G>C c.(769-771)Gac>Cac p.D257H HNSC 9 82321747 82321747 + Missense_Mutation SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 g.chr9:82321747C>T c.869C>T c.(868-870)cCg>cTg p.P290L HNSC 9 82323642 82323642 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr9:82323642C>G c.1204C>G c.(1204-1206)Cag>Gag p.Q402E HNSC 9 82333859 82333859 + Silent SNP G G A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 g.chr9:82333859G>A c.1563G>A c.(1561-1563)aaG>aaA p.K521K HNSC 9 82334979 82334979 + Missense_Mutation SNP C C T TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 g.chr9:82334979C>T c.1609C>T c.(1609-1611)Cgt>Tgt p.R537C HNSC 9 82335048 82335048 + Missense_Mutation SNP T T C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 g.chr9:82335048T>C c.1678T>C c.(1678-1680)Tgg>Cgg p.W560R HNSC 9 82337412 82337412 + Missense_Mutation SNP G G T TCGA-CV-A6K1-01A-11D-A31L-08 TCGA-CV-A6K1-10A-01D-A31J-08 g.chr9:82337412G>T c.2033G>T c.(2032-2034)gGg>gTg p.G678V LGG 9 82187749 82187749 + Splice_Site SNP C C A TCGA-E1-A7YV-01A-11D-A34J-08 TCGA-E1-A7YV-10A-01D-A34M-08 g.chr9:82187749C>A c.44C>A c.(43-45)cCa>cAa p.P15Q LGG 9 82323125 82323125 + Missense_Mutation SNP G G T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 g.chr9:82323125G>T c.1029G>T c.(1027-1029)ttG>ttT p.L343F LGG 9 82336786 82336786 + Missense_Mutation SNP C C T TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 g.chr9:82336786C>T c.1969C>T c.(1969-1971)Cac>Tac p.H657Y LGG 9 82337427 82337427 + Missense_Mutation SNP A A G TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 g.chr9:82337427A>G c.2048A>G c.(2047-2049)aAt>aGt p.N683S LIHC 9 82267541 82267541 + Missense_Mutation SNP C C A TCGA-G3-A7M9-01A-23D-A34Z-10 TCGA-G3-A7M9-10A-01D-A34Z-10 g.chr9:82267541C>A c.424C>A c.(424-426)Cat>Aat p.H142N LIHC 9 82320836 82320837 + Missense_Mutation DNP GG GG TT TCGA-G3-A5SM-01A-12D-A28X-10 TCGA-G3-A5SM-10A-01D-A28X-10 g.chr9:82320836_82320837GG>TT c.762_763GG>TT c.(760-765)ttGGtg>ttTTtg p.254_255LV>FL LIHC 9 82324551 82324551 + Missense_Mutation SNP C C G TCGA-DD-AACZ-01A-11D-A40R-10 TCGA-DD-AACZ-10A-01D-A40U-10 g.chr9:82324551C>G c.1277C>G c.(1276-1278)cCa>cGa p.P426R LIHC 9 82333727 82333727 + Missense_Mutation SNP T T A TCGA-CC-A5UD-01A-11D-A28X-10 TCGA-CC-A5UD-10A-01D-A28X-10 g.chr9:82333727T>A c.1431T>A c.(1429-1431)caT>caA p.H477Q LIHC 9 82333837 82333837 + Missense_Mutation SNP A A T TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr9:82333837A>T c.1541A>T c.(1540-1542)gAc>gTc p.D514V LIHC 9 82337475 82337475 + Missense_Mutation SNP T T C TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr9:82337475T>C c.2096T>C c.(2095-2097)cTt>cCt p.L699P LUAD 9 82187720 82187720 + Silent SNP G G T TCGA-80-5607-01A-31D-1945-08 TCGA-80-5607-10A-01D-1946-08 g.chr9:82187720G>T c.15G>T c.(13-15)ctG>ctT p.L5L LUAD 9 82267570 82267570 + Missense_Mutation SNP C C A TCGA-MP-A4TF-01A-11D-A25L-08 TCGA-MP-A4TF-10A-01D-A25L-08 g.chr9:82267570C>A c.453C>A c.(451-453)caC>caA p.H151Q LUAD 9 82319742 82319742 + Missense_Mutation SNP G G T TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr9:82319742G>T c.654G>T c.(652-654)aaG>aaT p.K218N LUAD 9 82321803 82321803 + Missense_Mutation SNP G G C TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 g.chr9:82321803G>C c.925G>C c.(925-927)Gaa>Caa p.E309Q LUAD 9 82323092 82323092 + Silent SNP G G T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 g.chr9:82323092G>T c.996G>T c.(994-996)gcG>gcT p.A332A LUAD 9 82333636 82333636 + Splice_Site SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr9:82333636G>C c.e15-1 LUAD 9 82333670 82333670 + Silent SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 g.chr9:82333670G>A c.1374G>A c.(1372-1374)caG>caA p.Q458Q LUAD 9 82333781 82333781 + Silent SNP C C T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 g.chr9:82333781C>T c.1485C>T c.(1483-1485)atC>atT p.I495I LUAD 9 82333861 82333861 + Missense_Mutation SNP G G C TCGA-44-7660-01A-11D-2063-08 TCGA-44-7660-10A-01D-2063-08 g.chr9:82333861G>C c.1565G>C c.(1564-1566)aGt>aCt p.S522T LUAD 9 82333886 82333886 + Splice_Site SNP G G T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 g.chr9:82333886G>T c.1590G>T c.(1588-1590)ctG>ctT p.L530L LUAD 9 82333887 82333887 + Splice_Site SNP G G T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 g.chr9:82333887G>T c.e15+1 LUAD 9 82337478 82337478 + Missense_Mutation SNP A A T TCGA-55-8614-01A-11D-2393-08 TCGA-55-8614-10A-01D-2393-08 g.chr9:82337478A>T c.2099A>T c.(2098-2100)cAt>cTt p.H700L LUAD 9 82340004 82340004 + Missense_Mutation SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr9:82340004A>G c.2267A>G c.(2266-2268)tAc>tGc p.Y756C LUAD 9 82340023 82340023 + Silent SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 g.chr9:82340023G>T c.2286G>T c.(2284-2286)ggG>ggT p.G762G LUSC 9 82320816 82320816 + Nonsense_Mutation SNP G G T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 g.chr9:82320816G>T c.742G>T c.(742-744)Gag>Tag p.E248* LUSC 9 82323125 82323125 + Silent SNP G G A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 g.chr9:82323125G>A c.1029G>A c.(1027-1029)ttG>ttA p.L343L LUSC 9 82323695 82323695 + Silent SNP A A T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr9:82323695A>T c.1257A>T c.(1255-1257)tcA>tcT p.S419S OV 9 82319728 82319728 + Nonsense_Mutation SNP C C T TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 g.chr9:82319728C>T c.640C>T c.(640-642)Cga>Tga p.R214* PAAD 9 82267698 82267698 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr9:82267698A>G c.581A>G c.(580-582)gAt>gGt p.D194G PAAD 9 82319707 82319707 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr9:82319707G>T c.619G>T c.(619-621)Gta>Tta p.V207L PAAD 9 82335058 82335058 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr9:82335058C>T c.1688C>T c.(1687-1689)gCg>gTg p.A563V PAAD 9 82336698 82336698 + Silent SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr9:82336698T>C c.1881T>C c.(1879-1881)atT>atC p.I627I PRAD 9 82187726 82187727 + Frame_Shift_Ins INS - - ATGT TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 g.chr9:82187726_82187727insATGT c.21_22insATGT c.(22-24)atgfs p.-9fs PRAD 9 82320809 82320809 + Silent SNP C C T TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 g.chr9:82320809C>T c.735C>T c.(733-735)agC>agT p.S245S PRAD 9 82333770 82333770 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr9:82333770G>A c.1474G>A c.(1474-1476)Gcg>Acg p.A492T PRAD 9 82337508 82337508 + Missense_Mutation SNP C C T TCGA-XJ-A9DQ-01A-11D-A377-08 TCGA-XJ-A9DQ-10A-01D-A37A-08 g.chr9:82337508C>T c.2129C>T c.(2128-2130)gCc>gTc p.A710V PRAD 9 82339965 82339965 + Missense_Mutation SNP C C T TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 g.chr9:82339965C>T c.2228C>T c.(2227-2229)tCa>tTa p.S743L READ 9 82188608 82188608 + Missense_Mutation SNP C C A TCGA-AG-A01W-01A-21W-A096-10 TCGA-AG-A01W-11A-11W-A096-10 g.chr9:82188608C>A c.50C>A c.(49-51)cCg>cAg p.P17Q READ 9 82336719 82336719 + Silent SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr9:82336719C>A c.1902C>A c.(1900-1902)ctC>ctA p.L634L SKCM 9 82188651 82188651 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 g.chr9:82188651C>T c.93C>T c.(91-93)tcC>tcT p.S31S SKCM 9 82242321 82242321 + Silent SNP G G A TCGA-EE-A3AD-06A-11D-A196-08 TCGA-EE-A3AD-10A-01D-A198-08 g.chr9:82242321G>A c.348G>A c.(346-348)cgG>cgA p.R116R SKCM 9 82267551 82267551 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 g.chr9:82267551C>T c.434C>T c.(433-435)cCc>cTc p.P145L SKCM 9 82267551 82267551 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 g.chr9:82267551C>T c.434C>T c.(433-435)cCc>cTc p.P145L SKCM 9 82267552 82267552 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 g.chr9:82267552C>T c.435C>T c.(433-435)ccC>ccT p.P145P SKCM 9 82267644 82267644 + Missense_Mutation SNP T T C TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 g.chr9:82267644T>C c.527T>C c.(526-528)cTa>cCa p.L176P SKCM 9 82267687 82267687 + Silent SNP C C T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 g.chr9:82267687C>T c.570C>T c.(568-570)caC>caT p.H190H SKCM 9 82319705 82319705 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr9:82319705C>T c.617C>T c.(616-618)tCa>tTa p.S206L SKCM 9 82319812 82319812 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 g.chr9:82319812C>T c.724C>T c.(724-726)Cgt>Tgt p.R242C SKCM 9 82321672 82321672 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr9:82321672C>T c.794C>T c.(793-795)tCc>tTc p.S265F SKCM 9 82321756 82321756 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr9:82321756C>T c.878C>T c.(877-879)cCa>cTa p.P293L SKCM 9 82321762 82321762 + Missense_Mutation SNP C C G TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 g.chr9:82321762C>G c.884C>G c.(883-885)tCt>tGt p.S295C SKCM 9 82323082 82323082 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr9:82323082G>A c.986G>A c.(985-987)cGa>cAa p.R329Q SKCM 9 82323159 82323159 + Missense_Mutation SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr9:82323159C>T c.1063C>T c.(1063-1065)Cct>Tct p.P355S SKCM 9 82323515 82323515 + Silent SNP C C T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr9:82323515C>T c.1077C>T c.(1075-1077)agC>agT p.S359S SKCM 9 82323694 82323694 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr9:82323694C>T c.1256C>T c.(1255-1257)tCa>tTa p.S419L SKCM 9 82324555 82324555 + Silent SNP C C T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr9:82324555C>T c.1281C>T c.(1279-1281)caC>caT p.H427H SKCM 9 82324572 82324572 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr9:82324572C>T c.1298C>T c.(1297-1299)cCa>cTa p.P433L SKCM 9 82333688 82333688 + Silent SNP T T C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 g.chr9:82333688T>C c.1392T>C c.(1390-1392)ttT>ttC p.F464F SKCM 9 82333695 82333695 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chr9:82333695G>A c.1399G>A c.(1399-1401)Gac>Aac p.D467N SKCM 9 82333708 82333708 + Missense_Mutation SNP G G A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr9:82333708G>A c.1412G>A c.(1411-1413)gGa>gAa p.G471E SKCM 9 82336705 82336705 + Missense_Mutation SNP G G A TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr9:82336705G>A c.1888G>A c.(1888-1890)Gat>Aat p.D630N

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 9 82189837 82189837 single base substitution C T 5_prime_UTR_variant BLCA-CN 9 82189837 82189837 single base substitution C T exon_variant BLCA-CN 9 82189837 82189837 single base substitution C T missense_variant R50W 148C>T BLCA-CN 9 82189837 82189837 single base substitution C T missense_variant R63W 187C>T BLCA-CN 9 82189837 82189837 single base substitution C T missense_variant R65W 193C>T BLCA-CN 9 82189837 82189837 single base substitution C T upstream_gene_variant BLCA-CN 9 82319746 82319746 single base substitution A C 3_prime_UTR_variant BLCA-CN 9 82319746 82319746 single base substitution A C 5_prime_UTR_variant BLCA-CN 9 82319746 82319746 single base substitution A C exon_variant BLCA-CN 9 82319746 82319746 single base substitution A C synonymous_variant R10R 28A>C BLCA-CN 9 82319746 82319746 single base substitution A C synonymous_variant R17R 49A>C BLCA-CN 9 82319746 82319746 single base substitution A C synonymous_variant R195R 583A>C BLCA-CN 9 82319746 82319746 single base substitution A C synonymous_variant R205R 613A>C BLCA-CN 9 82319746 82319746 single base substitution A C synonymous_variant R220R 658A>C BLCA-CN 9 82319746 82319746 single base substitution A C synonymous_variant R90R 268A>C BLCA-CN 9 82319746 82319746 single base substitution A C upstream_gene_variant BLCA-CN 9 82337931 82337931 single base substitution A G 3_prime_UTR_variant BLCA-CN 9 82337931 82337931 single base substitution A G downstream_gene_variant BLCA-CN 9 82337931 82337931 single base substitution A G missense_variant Y369C 1106A>G BLCA-CN 9 82337931 82337931 single base substitution A G missense_variant Y663C 1988A>G BLCA-CN 9 82337931 82337931 single base substitution A G missense_variant Y707C 2120A>G BLCA-CN 9 82337931 82337931 single base substitution A G missense_variant Y732C 2195A>G BLCA-CN 9 82337931 82337931 single base substitution A G missense_variant Y764C 2291A>G BLCA-US 9 82267521 82267521 deletion of <=200bp C - 3_prime_UTR_variant BLCA-US 9 82267521 82267521 deletion of <=200bp C - 5_prime_UTR_variant BLCA-US 9 82267521 82267521 deletion of <=200bp C - downstream_gene_variant BLCA-US 9 82267521 82267521 deletion of <=200bp C - exon_variant BLCA-US 9 82267521 82267521 deletion of <=200bp C - frameshift_variant A110 BLCA-US 9 82267521 82267521 deletion of <=200bp C - frameshift_variant A120 BLCA-US 9 82267521 82267521 deletion of <=200bp C - frameshift_variant A121 BLCA-US 9 82267521 82267521 deletion of <=200bp C - frameshift_variant A133 BLCA-US 9 82267521 82267521 deletion of <=200bp C - frameshift_variant A135 BLCA-US 9 82267521 82267521 deletion of <=200bp C - frameshift_variant A149 BLCA-US 9 82267521 82267521 deletion of <=200bp C - frameshift_variant A5 BLCA-US 9 82267521 82267521 deletion of <=200bp C - upstream_gene_variant BLCA-US 9 82335206 82335206 single base substitution G A downstream_gene_variant BLCA-US 9 82335206 82335206 single base substitution G A intron_variant BLCA-US 9 82335206 82335206 single base substitution G A splice_region_variant BOCA-FR 9 82186432 82186432 single base substitution A G upstream_gene_variant BOCA-FR 9 82206860 82206860 single base substitution C T intron_variant BOCA-FR 9 82210175 82210175 single base substitution C T intron_variant BOCA-FR 9 82232408 82232408 single base substitution G A intron_variant BOCA-FR 9 82272021 82272021 single base substitution T A downstream_gene_variant BOCA-FR 9 82272021 82272021 single base substitution T A intron_variant BOCA-FR 9 82326279 82326279 single base substitution G A downstream_gene_variant BOCA-FR 9 82326279 82326279 single base substitution G A intron_variant BOCA-FR 9 82339264 82339264 single base substitution G T downstream_gene_variant BOCA-FR 9 82339264 82339264 single base substitution G T intron_variant BRCA-EU 9 82182008 82182008 single base substitution C T upstream_gene_variant BRCA-EU 9 82182267 82182267 single base substitution C G upstream_gene_variant BRCA-EU 9 82182594 82182594 single base substitution G A upstream_gene_variant BRCA-EU 9 82183790 82183800 deletion of <=200bp ATGAGGTATTC - upstream_gene_variant BRCA-EU 9 82184680 82184680 single base substitution G A upstream_gene_variant BRCA-EU 9 82185393 82185393 single base substitution C A upstream_gene_variant BRCA-EU 9 82185963 82185963 single base substitution G C upstream_gene_variant BRCA-EU 9 82186404 82186404 single base substitution G C upstream_gene_variant BRCA-EU 9 82188529 82188529 single base substitution G A exon_variant BRCA-EU 9 82188529 82188529 single base substitution G A intron_variant BRCA-EU 9 82188529 82188529 single base substitution G A upstream_gene_variant BRCA-EU 9 82188733 82188733 single base substitution T G intron_variant BRCA-EU 9 82188733 82188733 single base substitution T G upstream_gene_variant BRCA-EU 9 82189881 82189881 single base substitution G A exon_variant BRCA-EU 9 82189881 82189881 single base substitution G A intron_variant BRCA-EU 9 82189881 82189881 single base substitution G A upstream_gene_variant BRCA-EU 9 82190567 82190579 deletion of <=200bp TTTTCTATCTAGC - downstream_gene_variant BRCA-EU 9 82190567 82190579 deletion of <=200bp TTTTCTATCTAGC - intron_variant BRCA-EU 9 82190567 82190579 deletion of <=200bp TTTTCTATCTAGC - upstream_gene_variant BRCA-EU 9 82193317 82193317 single base substitution G A downstream_gene_variant BRCA-EU 9 82193317 82193317 single base substitution G A intron_variant BRCA-EU 9 82193317 82193317 single base substitution G A upstream_gene_variant BRCA-EU 9 82195064 82195064 single base substitution G T downstream_gene_variant BRCA-EU 9 82195064 82195064 single base substitution G T exon_variant BRCA-EU 9 82195064 82195064 single base substitution G T intron_variant BRCA-EU 9 82195064 82195064 single base substitution G T upstream_gene_variant BRCA-EU 9 82195395 82195395 single base substitution G C downstream_gene_variant BRCA-EU 9 82195395 82195395 single base substitution G C intron_variant BRCA-EU 9 82195496 82195496 deletion of <=200bp T - downstream_gene_variant BRCA-EU 9 82195496 82195496 deletion of <=200bp T - intron_variant BRCA-EU 9 82195664 82195664 single base substitution C G downstream_gene_variant BRCA-EU 9 82195664 82195664 single base substitution C G intron_variant BRCA-EU 9 82196592 82196592 single base substitution G A downstream_gene_variant BRCA-EU 9 82196592 82196592 single base substitution G A intron_variant BRCA-EU 9 82197792 82197792 single base substitution G A downstream_gene_variant BRCA-EU 9 82197792 82197792 single base substitution G A intron_variant BRCA-EU 9 82197794 82197794 single base substitution G C downstream_gene_variant BRCA-EU 9 82197794 82197794 single base substitution G C intron_variant BRCA-EU 9 82198032 82198032 single base substitution C G downstream_gene_variant BRCA-EU 9 82198032 82198032 single base substitution C G intron_variant BRCA-EU 9 82198515 82198515 single base substitution T C downstream_gene_variant BRCA-EU 9 82198515 82198515 single base substitution T C intron_variant BRCA-EU 9 82198697 82198697 single base substitution C A downstream_gene_variant BRCA-EU 9 82198697 82198697 single base substitution C A intron_variant BRCA-EU 9 82199163 82199163 single base substitution C A downstream_gene_variant BRCA-EU 9 82199163 82199163 single base substitution C A intron_variant BRCA-EU 9 82199213 82199213 single base substitution T A downstream_gene_variant BRCA-EU 9 82199213 82199213 single base substitution T A intron_variant BRCA-EU 9 82200470 82200470 single base substitution A G intron_variant BRCA-EU 9 82202136 82202136 single base substitution G A intron_variant BRCA-EU 9 82202225 82202225 single base substitution A G intron_variant BRCA-EU 9 82203606 82203606 single base substitution G C intron_variant BRCA-EU 9 82203675 82203675 single base substitution T G intron_variant BRCA-EU 9 82204345 82204345 single base substitution G A intron_variant BRCA-EU 9 82204759 82204759 single base substitution T G intron_variant BRCA-EU 9 82205543 82205543 deletion of <=200bp T - intron_variant BRCA-EU 9 82205899 82205899 single base substitution C T intron_variant BRCA-EU 9 82207819 82207819 single base substitution G T intron_variant BRCA-EU 9 82207886 82207886 single base substitution T C intron_variant BRCA-EU 9 82208069 82208069 single base substitution T A intron_variant BRCA-EU 9 82208120 82208120 deletion of <=200bp A - intron_variant BRCA-EU 9 82208460 82208460 single base substitution A G intron_variant BRCA-EU 9 82209065 82209065 single base substitution G C intron_variant BRCA-EU 9 82209666 82209667 deletion of <=200bp CT - intron_variant BRCA-EU 9 82211181 82211181 single base substitution C T intron_variant BRCA-EU 9 82212944 82212944 single base substitution G T intron_variant BRCA-EU 9 82213434 82213434 single base substitution A T intron_variant BRCA-EU 9 82213755 82213755 deletion of <=200bp C - intron_variant BRCA-EU 9 82214873 82214873 single base substitution G A intron_variant BRCA-EU 9 82215149 82215149 single base substitution A T intron_variant BRCA-EU 9 82215943 82215943 single base substitution C T intron_variant BRCA-EU 9 82216851 82216851 single base substitution A G intron_variant BRCA-EU 9 82216929 82216929 single base substitution G C intron_variant BRCA-EU 9 82217121 82217121 single base substitution G A intron_variant BRCA-EU 9 82217466 82217466 single base substitution C A intron_variant BRCA-EU 9 82219569 82219569 single base substitution C A intron_variant BRCA-EU 9 82219581 82219581 deletion of <=200bp G - intron_variant BRCA-EU 9 82221342 82221342 single base substitution T C intron_variant BRCA-EU 9 82221937 82221937 single base substitution C A intron_variant BRCA-EU 9 82222629 82222629 single base substitution C G intron_variant BRCA-EU 9 82222799 82222799 deletion of <=200bp T - intron_variant BRCA-EU 9 82223454 82223454 single base substitution G C intron_variant BRCA-EU 9 82223608 82223608 single base substitution G A intron_variant BRCA-EU 9 82225508 82225508 single base substitution C T intron_variant BRCA-EU 9 82226398 82226398 single base substitution G C intron_variant BRCA-EU 9 82226656 82226656 single base substitution C A intron_variant BRCA-EU 9 82227500 82227500 single base substitution G A intron_variant BRCA-EU 9 82227867 82227867 single base substitution T C intron_variant BRCA-EU 9 82229428 82229428 single base substitution G T intron_variant BRCA-EU 9 82229836 82229836 deletion of <=200bp G - intron_variant BRCA-EU 9 82231385 82231385 single base substitution C G intron_variant BRCA-EU 9 82231815 82231815 single base substitution A T intron_variant BRCA-EU 9 82232971 82232971 single base substitution C T intron_variant BRCA-EU 9 82233808 82233808 single base substitution G A intron_variant BRCA-EU 9 82234459 82234459 single base substitution C A intron_variant BRCA-EU 9 82235584 82235584 single base substitution C A intron_variant BRCA-EU 9 82236623 82236623 single base substitution G A intron_variant BRCA-EU 9 82238785 82238785 single base substitution C T intron_variant BRCA-EU 9 82239572 82239572 single base substitution G A intron_variant BRCA-EU 9 82240332 82240332 single base substitution A G intron_variant BRCA-EU 9 82241330 82241330 single base substitution G A intron_variant BRCA-EU 9 82242219 82242219 single base substitution G T intron_variant BRCA-EU 9 82243679 82243679 single base substitution G A downstream_gene_variant BRCA-EU 9 82243679 82243679 single base substitution G A intron_variant BRCA-EU 9 82244124 82244124 deletion of <=200bp T - downstream_gene_variant BRCA-EU 9 82244124 82244124 deletion of <=200bp T - intron_variant BRCA-EU 9 82244124 82244124 insertion of <=200bp - T downstream_gene_variant BRCA-EU 9 82244124 82244124 insertion of <=200bp - T intron_variant BRCA-EU 9 82244575 82244575 single base substitution A C downstream_gene_variant BRCA-EU 9 82244575 82244575 single base substitution A C intron_variant BRCA-EU 9 82244684 82244684 single base substitution A C downstream_gene_variant BRCA-EU 9 82244684 82244684 single base substitution A C intron_variant BRCA-EU 9 82244820 82244820 single base substitution G C downstream_gene_variant BRCA-EU 9 82244820 82244820 single base substitution G C intron_variant BRCA-EU 9 82245894 82245894 deletion of <=200bp A - downstream_gene_variant BRCA-EU 9 82245894 82245894 deletion of <=200bp A - intron_variant BRCA-EU 9 82246027 82246027 single base substitution A T downstream_gene_variant BRCA-EU 9 82246027 82246027 single base substitution A T intron_variant BRCA-EU 9 82246611 82246611 single base substitution G A downstream_gene_variant BRCA-EU 9 82246611 82246611 single base substitution G A intron_variant BRCA-EU 9 82246752 82246752 single base substitution G A downstream_gene_variant BRCA-EU 9 82246752 82246752 single base substitution G A intron_variant BRCA-EU 9 82247779 82247779 single base substitution C T intron_variant BRCA-EU 9 82248648 82248648 insertion of <=200bp - T intron_variant BRCA-EU 9 82249133 82249133 single base substitution C G intron_variant BRCA-EU 9 82250205 82250205 deletion of <=200bp T - intron_variant BRCA-EU 9 82250327 82250327 deletion of <=200bp T - intron_variant BRCA-EU 9 82250763 82250763 single base substitution C T intron_variant BRCA-EU 9 82251353 82251353 single base substitution A G intron_variant BRCA-EU 9 82252116 82252116 single base substitution G T intron_variant BRCA-EU 9 82253831 82253831 single base substitution G C intron_variant BRCA-EU 9 82254532 82254532 single base substitution C G intron_variant BRCA-EU 9 82256498 82256498 single base substitution C G intron_variant BRCA-EU 9 82258680 82258680 single base substitution C A intron_variant BRCA-EU 9 82258931 82258931 single base substitution C T intron_variant BRCA-EU 9 82259324 82259324 single base substitution G A intron_variant BRCA-EU 9 82259890 82259890 single base substitution C G intron_variant BRCA-EU 9 82260532 82260532 single base substitution G T intron_variant BRCA-EU 9 82261225 82261225 single base substitution A C intron_variant BRCA-EU 9 82262767 82262767 single base substitution G C intron_variant BRCA-EU 9 82262767 82262767 single base substitution G C upstream_gene_variant BRCA-EU 9 82264146 82264146 single base substitution G A intron_variant BRCA-EU 9 82264146 82264146 single base substitution G A upstream_gene_variant BRCA-EU 9 82265132 82265132 single base substitution G C downstream_gene_variant BRCA-EU 9 82265132 82265132 single base substitution G C intron_variant BRCA-EU 9 82265132 82265132 single base substitution G C upstream_gene_variant BRCA-EU 9 82265639 82265639 single base substitution G T downstream_gene_variant BRCA-EU 9 82265639 82265639 single base substitution G T intron_variant BRCA-EU 9 82265639 82265639 single base substitution G T upstream_gene_variant BRCA-EU 9 82265785 82265785 single base substitution G C downstream_gene_variant BRCA-EU 9 82265785 82265785 single base substitution G C intron_variant BRCA-EU 9 82265785 82265785 single base substitution G C upstream_gene_variant BRCA-EU 9 82265888 82265888 deletion of <=200bp T - downstream_gene_variant BRCA-EU 9 82265888 82265888 deletion of <=200bp T - intron_variant BRCA-EU 9 82265888 82265888 deletion of <=200bp T - upstream_gene_variant BRCA-EU 9 82267202 82267202 single base substitution C T downstream_gene_variant BRCA-EU 9 82267202 82267202 single base substitution C T intron_variant BRCA-EU 9 82267202 82267202 single base substitution C T upstream_gene_variant BRCA-EU 9 82267832 82267832 single base substitution C T downstream_gene_variant BRCA-EU 9 82267832 82267832 single base substitution C T intron_variant BRCA-EU 9 82268228 82268229 deletion of <=200bp CT - downstream_gene_variant BRCA-EU 9 82268228 82268229 deletion of <=200bp CT - intron_variant BRCA-EU 9 82268234 82268234 single base substitution C G downstream_gene_variant BRCA-EU 9 82268234 82268234 single base substitution C G intron_variant BRCA-EU 9 82269885 82269885 single base substitution C T downstream_gene_variant BRCA-EU 9 82269885 82269885 single base substitution C T intron_variant BRCA-EU 9 82272769 82272769 single base substitution T A intron_variant BRCA-EU 9 82273089 82273089 single base substitution G C intron_variant BRCA-EU 9 82274127 82274127 single base substitution C T intron_variant BRCA-EU 9 82274127 82274127 single base substitution C T upstream_gene_variant BRCA-EU 9 82275721 82275721 single base substitution A T intron_variant BRCA-EU 9 82275721 82275721 single base substitution A T upstream_gene_variant BRCA-EU 9 82276378 82276378 single base substitution G C intron_variant BRCA-EU 9 82276378 82276378 single base substitution G C upstream_gene_variant BRCA-EU 9 82276666 82276671 deletion of <=200bp CTTTAA - intron_variant BRCA-EU 9 82276666 82276671 deletion of <=200bp CTTTAA - upstream_gene_variant BRCA-EU 9 82276720 82276720 single base substitution G C intron_variant BRCA-EU 9 82276720 82276720 single base substitution G C upstream_gene_variant BRCA-EU 9 82276895 82276895 insertion of <=200bp - AC intron_variant BRCA-EU 9 82276895 82276895 insertion of <=200bp - AC upstream_gene_variant BRCA-EU 9 82277111 82277111 single base substitution A C intron_variant BRCA-EU 9 82277111 82277111 single base substitution A C upstream_gene_variant BRCA-EU 9 82277703 82277703 single base substitution G C intron_variant BRCA-EU 9 82277703 82277703 single base substitution G C upstream_gene_variant BRCA-EU 9 82278908 82278908 single base substitution C T intron_variant BRCA-EU 9 82278928 82278928 single base substitution A T intron_variant BRCA-EU 9 82279215 82279215 single base substitution C T intron_variant BRCA-EU 9 82279669 82279669 single base substitution A C intron_variant BRCA-EU 9 82279804 82279804 deletion of <=200bp T - intron_variant BRCA-EU 9 82281434 82281434 single base substitution G A intron_variant BRCA-EU 9 82281693 82281693 single base substitution G A intron_variant BRCA-EU 9 82283127 82283127 single base substitution G C intron_variant BRCA-EU 9 82283412 82283412 single base substitution G C intron_variant BRCA-EU 9 82284225 82284225 single base substitution G C intron_variant BRCA-EU 9 82284433 82284433 deletion of <=200bp T - intron_variant BRCA-EU 9 82285526 82285526 single base substitution T A intron_variant BRCA-EU 9 82285684 82285684 single base substitution T A intron_variant BRCA-EU 9 82288158 82288158 deletion of <=200bp T - downstream_gene_variant BRCA-EU 9 82288158 82288158 deletion of <=200bp T - intron_variant BRCA-EU 9 82289430 82289430 single base substitution A T downstream_gene_variant BRCA-EU 9 82289430 82289430 single base substitution A T intron_variant BRCA-EU 9 82289934 82289934 single base substitution G A downstream_gene_variant BRCA-EU 9 82289934 82289934 single base substitution G A intron_variant BRCA-EU 9 82292138 82292138 single base substitution T G intron_variant BRCA-EU 9 82292147 82292147 single base substitution C T intron_variant BRCA-EU 9 82293588 82293588 single base substitution C A intron_variant BRCA-EU 9 82296678 82296678 deletion of <=200bp G - intron_variant BRCA-EU 9 82296831 82296831 deletion of <=200bp T - intron_variant BRCA-EU 9 82297821 82297821 deletion of <=200bp A - intron_variant BRCA-EU 9 82298711 82298711 single base substitution T A intron_variant BRCA-EU 9 82300637 82300637 single base substitution C G intron_variant BRCA-EU 9 82300685 82300685 single base substitution G A intron_variant BRCA-EU 9 82300731 82300731 single base substitution G T intron_variant BRCA-EU 9 82302044 82302044 single base substitution C T intron_variant BRCA-EU 9 82302198 82302198 single base substitution C T intron_variant BRCA-EU 9 82302383 82302383 single base substitution A T intron_variant BRCA-EU 9 82302771 82302771 single base substitution G C intron_variant BRCA-EU 9 82302958 82302958 single base substitution G T intron_variant BRCA-EU 9 82305139 82305139 single base substitution T C intron_variant BRCA-EU 9 82305654 82305654 single base substitution C T intron_variant BRCA-EU 9 82306347 82306347 single base substitution A G intron_variant BRCA-EU 9 82306889 82306889 single base substitution C A intron_variant BRCA-EU 9 82308488 82308488 single base substitution G C intron_variant BRCA-EU 9 82311136 82311136 single base substitution G C intron_variant BRCA-EU 9 82311459 82311459 single base substitution A C intron_variant BRCA-EU 9 82312521 82312521 single base substitution G A intron_variant BRCA-EU 9 82312725 82312725 single base substitution C G intron_variant BRCA-EU 9 82316515 82316515 single base substitution T C intron_variant BRCA-EU 9 82316515 82316515 single base substitution T C upstream_gene_variant BRCA-EU 9 82318850 82318850 deletion of <=200bp T - intron_variant BRCA-EU 9 82318850 82318850 deletion of <=200bp T - upstream_gene_variant BRCA-EU 9 82319039 82319039 deletion of <=200bp T - intron_variant BRCA-EU 9 82319039 82319039 deletion of <=200bp T - upstream_gene_variant BRCA-EU 9 82319651 82319651 single base substitution A C exon_variant BRCA-EU 9 82319651 82319651 single base substitution A C intron_variant BRCA-EU 9 82319651 82319651 single base substitution A C upstream_gene_variant BRCA-EU 9 82321305 82321305 single base substitution A C intron_variant BRCA-EU 9 82321305 82321305 single base substitution A C upstream_gene_variant BRCA-EU 9 82324450 82324450 single base substitution C T downstream_gene_variant BRCA-EU 9 82324450 82324450 single base substitution C T intron_variant BRCA-EU 9 82324810 82324810 single base substitution G C downstream_gene_variant BRCA-EU 9 82324810 82324810 single base substitution G C intron_variant BRCA-EU 9 82325561 82325561 single base substitution G A downstream_gene_variant BRCA-EU 9 82325561 82325561 single base substitution G A intron_variant BRCA-EU 9 82327274 82327274 single base substitution G T downstream_gene_variant BRCA-EU 9 82327274 82327274 single base substitution G T intron_variant BRCA-EU 9 82328803 82328803 single base substitution G A downstream_gene_variant BRCA-EU 9 82328803 82328803 single base substitution G A intron_variant BRCA-EU 9 82329007 82329007 single base substitution C G downstream_gene_variant BRCA-EU 9 82329007 82329007 single base substitution C G intron_variant BRCA-EU 9 82332420 82332420 single base substitution G A intron_variant BRCA-EU 9 82333540 82333540 single base substitution G T intron_variant BRCA-EU 9 82333921 82333921 single base substitution C G downstream_gene_variant BRCA-EU 9 82333921 82333921 single base substitution C G intron_variant BRCA-EU 9 82333946 82333946 single base substitution G A downstream_gene_variant BRCA-EU 9 82333946 82333946 single base substitution G A intron_variant BRCA-EU 9 82334408 82334408 deletion of <=200bp T - downstream_gene_variant BRCA-EU 9 82334408 82334408 deletion of <=200bp T - intron_variant BRCA-EU 9 82334751 82334751 single base substitution A C downstream_gene_variant BRCA-EU 9 82334751 82334751 single base substitution A C intron_variant BRCA-EU 9 82334955 82334955 single base substitution C G downstream_gene_variant BRCA-EU 9 82334955 82334955 single base substitution C G intron_variant BRCA-EU 9 82334955 82334955 single base substitution C G splice_region_variant BRCA-EU 9 82335621 82335621 single base substitution A G downstream_gene_variant BRCA-EU 9 82335621 82335621 single base substitution A G intron_variant BRCA-EU 9 82336531 82336531 single base substitution A G downstream_gene_variant BRCA-EU 9 82336531 82336531 single base substitution A G intron_variant BRCA-EU 9 82337046 82337046 single base substitution C G downstream_gene_variant BRCA-EU 9 82337046 82337046 single base substitution C G intron_variant BRCA-EU 9 82337543 82337543 single base substitution C G downstream_gene_variant BRCA-EU 9 82337543 82337543 single base substitution C G intron_variant BRCA-EU 9 82337733 82337733 single base substitution G T downstream_gene_variant BRCA-EU 9 82337733 82337733 single base substitution G T intron_variant BRCA-EU 9 82338727 82338759 deletion of <=200bp TTGCAGTCATGAAGCTTAGAATTTAATAGAGCA - downstream_gene_variant BRCA-EU 9 82338727 82338759 deletion of <=200bp TTGCAGTCATGAAGCTTAGAATTTAATAGAGCA - intron_variant BRCA-EU 9 82339133 82339133 single base substitution C T downstream_gene_variant BRCA-EU 9 82339133 82339133 single base substitution C T intron_variant BRCA-EU 9 82339607 82339607 single base substitution G C downstream_gene_variant BRCA-EU 9 82339607 82339607 single base substitution G C intron_variant BRCA-EU 9 82340025 82340025 single base substitution A G 3_prime_UTR_variant BRCA-EU 9 82340025 82340025 single base substitution A G downstream_gene_variant BRCA-EU 9 82340025 82340025 single base substitution A G missense_variant D400G 1199A>G BRCA-EU 9 82340025 82340025 single base substitution A G missense_variant D694G 2081A>G BRCA-EU 9 82340025 82340025 single base substitution A G missense_variant D738G 2213A>G BRCA-EU 9 82340025 82340025 single base substitution A G missense_variant D763G 2288A>G BRCA-EU 9 82340025 82340025 single base substitution A G missense_variant D795G 2384A>G BRCA-EU 9 82340442 82340442 deletion of <=200bp C - 3_prime_UTR_variant BRCA-EU 9 82340442 82340442 deletion of <=200bp C - downstream_gene_variant BRCA-EU 9 82340449 82340449 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 9 82340449 82340449 deletion of <=200bp T - downstream_gene_variant BRCA-EU 9 82342557 82342557 single base substitution A G downstream_gene_variant BRCA-EU 9 82342985 82342985 single base substitution G A downstream_gene_variant BRCA-EU 9 82345585 82345585 deletion of <=200bp C - downstream_gene_variant BRCA-FR 9 82182594 82182594 single base substitution G A upstream_gene_variant BRCA-FR 9 82188104 82188104 single base substitution G A intron_variant BRCA-FR 9 82188104 82188104 single base substitution G A upstream_gene_variant BRCA-FR 9 82195664 82195664 single base substitution C G downstream_gene_variant BRCA-FR 9 82195664 82195664 single base substitution C G intron_variant BRCA-FR 9 82199213 82199213 single base substitution T A downstream_gene_variant BRCA-FR 9 82199213 82199213 single base substitution T A intron_variant BRCA-FR 9 82213434 82213434 single base substitution A T intron_variant BRCA-FR 9 82231385 82231385 single base substitution C G intron_variant BRCA-FR 9 82249133 82249133 single base substitution C G intron_variant BRCA-FR 9 82264146 82264146 single base substitution G A intron_variant BRCA-FR 9 82264146 82264146 single base substitution G A upstream_gene_variant BRCA-FR 9 82265132 82265132 single base substitution G C downstream_gene_variant BRCA-FR 9 82265132 82265132 single base substitution G C intron_variant BRCA-FR 9 82265132 82265132 single base substitution G C upstream_gene_variant BRCA-FR 9 82266262 82266262 single base substitution A G downstream_gene_variant BRCA-FR 9 82266262 82266262 single base substitution A G intron_variant BRCA-FR 9 82266262 82266262 single base substitution A G upstream_gene_variant BRCA-FR 9 82271031 82271031 single base substitution C T downstream_gene_variant BRCA-FR 9 82271031 82271031 single base substitution C T intron_variant BRCA-FR 9 82279499 82279499 single base substitution A G intron_variant BRCA-FR 9 82292138 82292138 single base substitution T G intron_variant BRCA-FR 9 82292147 82292147 single base substitution C T intron_variant BRCA-FR 9 82295206 82295206 single base substitution A C intron_variant BRCA-FR 9 82295221 82295221 single base substitution G C intron_variant BRCA-FR 9 82300637 82300637 single base substitution C G intron_variant BRCA-FR 9 82306889 82306889 single base substitution C A intron_variant BRCA-FR 9 82309085 82309085 single base substitution G C intron_variant BRCA-FR 9 82321767 82321767 single base substitution G A 3_prime_UTR_variant BRCA-FR 9 82321767 82321767 single base substitution G A 5_prime_UTR_variant BRCA-FR 9 82321767 82321767 single base substitution G A exon_variant BRCA-FR 9 82321767 82321767 single base substitution G A intron_variant BRCA-FR 9 82321767 82321767 single base substitution G A missense_variant A272T 814G>A BRCA-FR 9 82321767 82321767 single base substitution G A missense_variant A297T 889G>A BRCA-FR 9 82321767 82321767 single base substitution G A missense_variant A29T 85G>A BRCA-FR 9 82321767 82321767 single base substitution G A missense_variant A87T 259G>A BRCA-FR 9 82321767 82321767 single base substitution G A upstream_gene_variant BRCA-FR 9 82324450 82324450 single base substitution C T downstream_gene_variant BRCA-FR 9 82324450 82324450 single base substitution C T intron_variant BRCA-FR 9 82327667 82327667 single base substitution T A downstream_gene_variant BRCA-FR 9 82327667 82327667 single base substitution T A intron_variant BRCA-FR 9 82333921 82333921 single base substitution C G downstream_gene_variant BRCA-FR 9 82333921 82333921 single base substitution C G intron_variant BRCA-FR 9 82336993 82336993 single base substitution T A downstream_gene_variant BRCA-FR 9 82336993 82336993 single base substitution T A intron_variant BRCA-FR 9 82339133 82339133 single base substitution C T downstream_gene_variant BRCA-FR 9 82339133 82339133 single base substitution C T intron_variant BRCA-FR 9 82340025 82340025 single base substitution A G 3_prime_UTR_variant BRCA-FR 9 82340025 82340025 single base substitution A G downstream_gene_variant BRCA-FR 9 82340025 82340025 single base substitution A G missense_variant D400G 1199A>G BRCA-FR 9 82340025 82340025 single base substitution A G missense_variant D694G 2081A>G BRCA-FR 9 82340025 82340025 single base substitution A G missense_variant D738G 2213A>G BRCA-FR 9 82340025 82340025 single base substitution A G missense_variant D763G 2288A>G BRCA-FR 9 82340025 82340025 single base substitution A G missense_variant D795G 2384A>G BRCA-KR 9 82336754 82336754 single base substitution G A 3_prime_UTR_variant BRCA-KR 9 82336754 82336754 single base substitution G A downstream_gene_variant BRCA-KR 9 82336754 82336754 single base substitution G A intron_variant BRCA-KR 9 82336754 82336754 single base substitution G A stop_gained W283* 848G>A BRCA-KR 9 82336754 82336754 single base substitution G A stop_gained W577* 1730G>A BRCA-KR 9 82336754 82336754 single base substitution G A stop_gained W621* 1862G>A BRCA-KR 9 82336754 82336754 single base substitution G A stop_gained W646* 1937G>A BRCA-KR 9 82336754 82336754 single base substitution G A stop_gained W678* 2033G>A BRCA-UK 9 82195642 82195642 single base substitution C T downstream_gene_variant BRCA-UK 9 82195642 82195642 single base substitution C T intron_variant BRCA-UK 9 82209703 82209703 single base substitution G A intron_variant BRCA-UK 9 82214457 82214457 single base substitution G A intron_variant BRCA-UK 9 82246027 82246027 single base substitution A T downstream_gene_variant BRCA-UK 9 82246027 82246027 single base substitution A T intron_variant BRCA-UK 9 82254532 82254532 single base substitution C G intron_variant BRCA-UK 9 82275723 82275723 single base substitution G C intron_variant BRCA-UK 9 82275723 82275723 single base substitution G C upstream_gene_variant BRCA-UK 9 82293588 82293588 single base substitution C A intron_variant BRCA-UK 9 82308488 82308488 single base substitution G C intron_variant BRCA-UK 9 82316066 82316066 single base substitution G A intron_variant BRCA-UK 9 82316066 82316066 single base substitution G A upstream_gene_variant BRCA-UK 9 82329007 82329007 single base substitution C G downstream_gene_variant BRCA-UK 9 82329007 82329007 single base substitution C G intron_variant BRCA-UK 9 82339607 82339607 single base substitution G C downstream_gene_variant BRCA-UK 9 82339607 82339607 single base substitution G C intron_variant BRCA-US 9 82191129 82191129 single base substitution A G downstream_gene_variant BRCA-US 9 82191129 82191129 single base substitution A G exon_variant BRCA-US 9 82191129 82191129 single base substitution A G intron_variant BRCA-US 9 82191129 82191129 single base substitution A G upstream_gene_variant BRCA-US 9 82227582 82227582 single base substitution C T 3_prime_UTR_variant BRCA-US 9 82227582 82227582 single base substitution C T 5_prime_UTR_variant BRCA-US 9 82227582 82227582 single base substitution C T exon_variant BRCA-US 9 82227582 82227582 single base substitution C T intron_variant BRCA-US 9 82227582 82227582 single base substitution C T synonymous_variant V73V 219C>T BRCA-US 9 82227582 82227582 single base substitution C T synonymous_variant V86V 258C>T BRCA-US 9 82227582 82227582 single base substitution C T synonymous_variant V88V 264C>T BRCA-US 9 82286352 82286352 single base substitution G A exon_variant BRCA-US 9 82286352 82286352 single base substitution G A intron_variant BRCA-US 9 82320815 82320815 single base substitution T G 3_prime_UTR_variant BRCA-US 9 82320815 82320815 single base substitution T G 5_prime_UTR_variant BRCA-US 9 82320815 82320815 single base substitution T G exon_variant BRCA-US 9 82320815 82320815 single base substitution T G intron_variant BRCA-US 9 82320815 82320815 single base substitution T G synonymous_variant G117G 351T>G BRCA-US 9 82320815 82320815 single base substitution T G synonymous_variant G222G 666T>G BRCA-US 9 82320815 82320815 single base substitution T G synonymous_variant G232G 696T>G BRCA-US 9 82320815 82320815 single base substitution T G synonymous_variant G247G 741T>G BRCA-US 9 82320815 82320815 single base substitution T G synonymous_variant G37G 111T>G BRCA-US 9 82320815 82320815 single base substitution T G upstream_gene_variant BRCA-US 9 82322052 82322052 single base substitution G A intron_variant BRCA-US 9 82322052 82322052 single base substitution G A synonymous_variant G251G 753G>A BRCA-US 9 82322052 82322052 single base substitution G A synonymous_variant G317G 951G>A BRCA-US 9 82322052 82322052 single base substitution G A synonymous_variant G49G 147G>A BRCA-US 9 82322052 82322052 single base substitution G A upstream_gene_variant BRCA-US 9 82323054 82323054 single base substitution G T 3_prime_UTR_variant BRCA-US 9 82323054 82323054 single base substitution G T 5_prime_UTR_variant BRCA-US 9 82323054 82323054 single base substitution G T exon_variant BRCA-US 9 82323054 82323054 single base substitution G T missense_variant V110F 328G>T BRCA-US 9 82323054 82323054 single base substitution G T missense_variant V139F 415G>T BRCA-US 9 82323054 82323054 single base substitution G T missense_variant V251F 751G>T BRCA-US 9 82323054 82323054 single base substitution G T missense_variant V286F 856G>T BRCA-US 9 82323054 82323054 single base substitution G T missense_variant V295F 883G>T BRCA-US 9 82323054 82323054 single base substitution G T missense_variant V320F 958G>T BRCA-US 9 82323054 82323054 single base substitution G T missense_variant V352F 1054G>T BRCA-US 9 82323054 82323054 single base substitution G T missense_variant V48F 142G>T BRCA-US 9 82323054 82323054 single base substitution G T missense_variant V84F 250G>T BRCA-US 9 82323054 82323054 single base substitution G T upstream_gene_variant BTCA-JP 9 82264790 82264790 single base substitution G A downstream_gene_variant BTCA-JP 9 82264790 82264790 single base substitution G A intron_variant BTCA-JP 9 82264790 82264790 single base substitution G A upstream_gene_variant BTCA-JP 9 82264819 82264819 single base substitution T G downstream_gene_variant BTCA-JP 9 82264819 82264819 single base substitution T G intron_variant BTCA-JP 9 82264819 82264819 single base substitution T G upstream_gene_variant BTCA-JP 9 82264824 82264824 single base substitution G T downstream_gene_variant BTCA-JP 9 82264824 82264824 single base substitution G T intron_variant BTCA-JP 9 82264824 82264824 single base substitution G T upstream_gene_variant BTCA-JP 9 82267423 82267423 single base substitution G A downstream_gene_variant BTCA-JP 9 82267423 82267423 single base substitution G A intron_variant BTCA-JP 9 82267423 82267423 single base substitution G A upstream_gene_variant BTCA-JP 9 82267693 82267693 single base substitution C A 3_prime_UTR_variant BTCA-JP 9 82267693 82267693 single base substitution C A 5_prime_UTR_variant BTCA-JP 9 82267693 82267693 single base substitution C A downstream_gene_variant BTCA-JP 9 82267693 82267693 single base substitution C A exon_variant BTCA-JP 9 82267693 82267693 single base substitution C A missense_variant D167E 501C>A BTCA-JP 9 82267693 82267693 single base substitution C A missense_variant D177E 531C>A BTCA-JP 9 82267693 82267693 single base substitution C A missense_variant D190E 570C>A BTCA-JP 9 82267693 82267693 single base substitution C A missense_variant D192E 576C>A BTCA-JP 9 82267693 82267693 single base substitution C A missense_variant D206E 618C>A BTCA-JP 9 82267693 82267693 single base substitution C A missense_variant D62E 186C>A BTCA-JP 9 82321868 82321868 single base substitution G A intron_variant BTCA-JP 9 82321868 82321868 single base substitution G A upstream_gene_variant BTCA-JP 9 82324565 82324565 single base substitution C T 3_prime_UTR_variant BTCA-JP 9 82324565 82324565 single base substitution C T downstream_gene_variant BTCA-JP 9 82324565 82324565 single base substitution C T exon_variant BTCA-JP 9 82324565 82324565 single base substitution C T missense_variant R159C 475C>T BTCA-JP 9 82324565 82324565 single base substitution C T missense_variant R195C 583C>T BTCA-JP 9 82324565 82324565 single base substitution C T missense_variant R221C 661C>T BTCA-JP 9 82324565 82324565 single base substitution C T missense_variant R362C 1084C>T BTCA-JP 9 82324565 82324565 single base substitution C T missense_variant R406C 1216C>T BTCA-JP 9 82324565 82324565 single base substitution C T missense_variant R431C 1291C>T BTCA-JP 9 82324565 82324565 single base substitution C T missense_variant R463C 1387C>T BTCA-JP 9 82324565 82324565 single base substitution C T missense_variant R68C 202C>T BTCA-JP 9 82324612 82324612 single base substitution A C downstream_gene_variant BTCA-JP 9 82324612 82324612 single base substitution A C missense_variant K210N 630A>C BTCA-JP 9 82324612 82324612 single base substitution A C missense_variant K236N 708A>C BTCA-JP 9 82324612 82324612 single base substitution A C missense_variant K377N 1131A>C BTCA-JP 9 82324612 82324612 single base substitution A C missense_variant K421N 1263A>C BTCA-JP 9 82324612 82324612 single base substitution A C missense_variant K446N 1338A>C BTCA-JP 9 82324612 82324612 single base substitution A C missense_variant K478N 1434A>C BTCA-JP 9 82324612 82324612 single base substitution A C missense_variant K83N 249A>C BTCA-JP 9 82324612 82324612 single base substitution A C splice_region_variant BTCA-JP 9 82324655 82324655 single base substitution T A downstream_gene_variant BTCA-JP 9 82324655 82324655 single base substitution T A intron_variant BTCA-JP 9 82340017 82340017 single base substitution C T 3_prime_UTR_variant BTCA-JP 9 82340017 82340017 single base substitution C T downstream_gene_variant BTCA-JP 9 82340017 82340017 single base substitution C T synonymous_variant G397G 1191C>T BTCA-JP 9 82340017 82340017 single base substitution C T synonymous_variant G691G 2073C>T BTCA-JP 9 82340017 82340017 single base substitution C T synonymous_variant G735G 2205C>T BTCA-JP 9 82340017 82340017 single base substitution C T synonymous_variant G760G 2280C>T BTCA-JP 9 82340017 82340017 single base substitution C T synonymous_variant G792G 2376C>T CESC-US 9 82286177 82286177 single base substitution C T 5_prime_UTR_variant CESC-US 9 82286177 82286177 single base substitution C T exon_variant CESC-US 9 82286177 82286177 single base substitution C T intron_variant CESC-US 9 82308552 82308552 single base substitution G A intron_variant CESC-US 9 82308552 82308552 single base substitution G A missense_variant R199K 596G>A CESC-US 9 82323087 82323087 single base substitution G A 3_prime_UTR_variant CESC-US 9 82323087 82323087 single base substitution G A 5_prime_UTR_variant CESC-US 9 82323087 82323087 single base substitution G A downstream_gene_variant CESC-US 9 82323087 82323087 single base substitution G A exon_variant CESC-US 9 82323087 82323087 single base substitution G A missense_variant D121N 361G>A CESC-US 9 82323087 82323087 single base substitution G A missense_variant D150N 448G>A CESC-US 9 82323087 82323087 single base substitution G A missense_variant D262N 784G>A CESC-US 9 82323087 82323087 single base substitution G A missense_variant D297N 889G>A CESC-US 9 82323087 82323087 single base substitution G A missense_variant D306N 916G>A CESC-US 9 82323087 82323087 single base substitution G A missense_variant D331N 991G>A CESC-US 9 82323087 82323087 single base substitution G A missense_variant D363N 1087G>A CESC-US 9 82323087 82323087 single base substitution G A missense_variant D59N 175G>A CESC-US 9 82323087 82323087 single base substitution G A missense_variant D95N 283G>A CESC-US 9 82323087 82323087 single base substitution G A upstream_gene_variant CESC-US 9 82323513 82323513 single base substitution A G 3_prime_UTR_variant CESC-US 9 82323513 82323513 single base substitution A G 5_prime_UTR_variant CESC-US 9 82323513 82323513 single base substitution A G downstream_gene_variant CESC-US 9 82323513 82323513 single base substitution A G exon_variant CESC-US 9 82323513 82323513 single base substitution A G missense_variant S123G 367A>G CESC-US 9 82323513 82323513 single base substitution A G missense_variant S149G 445A>G CESC-US 9 82323513 82323513 single base substitution A G missense_variant S178G 532A>G CESC-US 9 82323513 82323513 single base substitution A G missense_variant S290G 868A>G CESC-US 9 82323513 82323513 single base substitution A G missense_variant S334G 1000A>G CESC-US 9 82323513 82323513 single base substitution A G missense_variant S359G 1075A>G CESC-US 9 82323513 82323513 single base substitution A G missense_variant S391G 1171A>G CESC-US 9 82323513 82323513 single base substitution A G missense_variant S87G 259A>G CESC-US 9 82323635 82323635 single base substitution C G 3_prime_UTR_variant CESC-US 9 82323635 82323635 single base substitution C G downstream_gene_variant CESC-US 9 82323635 82323635 single base substitution C G exon_variant CESC-US 9 82323635 82323635 single base substitution C G missense_variant I127M 381C>G CESC-US 9 82323635 82323635 single base substitution C G missense_variant I163M 489C>G CESC-US 9 82323635 82323635 single base substitution C G missense_variant I189M 567C>G CESC-US 9 82323635 82323635 single base substitution C G missense_variant I218M 654C>G CESC-US 9 82323635 82323635 single base substitution C G missense_variant I330M 990C>G CESC-US 9 82323635 82323635 single base substitution C G missense_variant I36M 108C>G CESC-US 9 82323635 82323635 single base substitution C G missense_variant I374M 1122C>G CESC-US 9 82323635 82323635 single base substitution C G missense_variant I399M 1197C>G CESC-US 9 82323635 82323635 single base substitution C G missense_variant I431M 1293C>G CLLE-ES 9 82198770 82198770 single base substitution T C downstream_gene_variant CLLE-ES 9 82198770 82198770 single base substitution T C intron_variant CLLE-ES 9 82226057 82226057 single base substitution C A intron_variant CLLE-ES 9 82264501 82264501 single base substitution A G exon_variant CLLE-ES 9 82264501 82264501 single base substitution A G intron_variant CLLE-ES 9 82264501 82264501 single base substitution A G upstream_gene_variant CLLE-ES 9 82274283 82274283 single base substitution T C intron_variant CLLE-ES 9 82274283 82274283 single base substitution T C upstream_gene_variant CLLE-ES 9 82274300 82274300 single base substitution T C intron_variant CLLE-ES 9 82274300 82274300 single base substitution T C upstream_gene_variant CLLE-ES 9 82288431 82288431 single base substitution T G downstream_gene_variant CLLE-ES 9 82288431 82288431 single base substitution T G intron_variant CLLE-ES 9 82288532 82288532 single base substitution C G downstream_gene_variant CLLE-ES 9 82288532 82288532 single base substitution C G intron_variant CLLE-ES 9 82291116 82291116 single base substitution C T downstream_gene_variant CLLE-ES 9 82291116 82291116 single base substitution C T intron_variant CLLE-ES 9 82293339 82293339 single base substitution A T intron_variant CLLE-ES 9 82299399 82299399 insertion of <=200bp - GG intron_variant CLLE-ES 9 82309085 82309085 single base substitution G A intron_variant CLLE-ES 9 82312960 82312960 single base substitution A G intron_variant CLLE-ES 9 82342830 82342830 single base substitution T A downstream_gene_variant COAD-US 9 82191060 82191060 single base substitution T C 5_prime_UTR_variant COAD-US 9 82191060 82191060 single base substitution T C downstream_gene_variant COAD-US 9 82191060 82191060 single base substitution T C exon_variant COAD-US 9 82191060 82191060 single base substitution T C intron_variant COAD-US 9 82191060 82191060 single base substitution T C missense_variant S59P 175T>C COAD-US 9 82191060 82191060 single base substitution T C missense_variant S72P 214T>C COAD-US 9 82191060 82191060 single base substitution T C missense_variant S74P 220T>C COAD-US 9 82191060 82191060 single base substitution T C upstream_gene_variant COAD-US 9 82267606 82267606 single base substitution C T 3_prime_UTR_variant COAD-US 9 82267606 82267606 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant COAD-US 9 82267606 82267606 single base substitution C T downstream_gene_variant COAD-US 9 82267606 82267606 single base substitution C T exon_variant COAD-US 9 82267606 82267606 single base substitution C T synonymous_variant I138I 414C>T COAD-US 9 82267606 82267606 single base substitution C T synonymous_variant I148I 444C>T COAD-US 9 82267606 82267606 single base substitution C T synonymous_variant I161I 483C>T COAD-US 9 82267606 82267606 single base substitution C T synonymous_variant I163I 489C>T COAD-US 9 82267606 82267606 single base substitution C T synonymous_variant I177I 531C>T COAD-US 9 82267606 82267606 single base substitution C T synonymous_variant I33I 99C>T COAD-US 9 82319728 82319728 single base substitution C T 3_prime_UTR_variant COAD-US 9 82319728 82319728 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant COAD-US 9 82319728 82319728 single base substitution C T exon_variant COAD-US 9 82319728 82319728 single base substitution C T stop_gained R11* 31C>T COAD-US 9 82319728 82319728 single base substitution C T stop_gained R189* 565C>T COAD-US 9 82319728 82319728 single base substitution C T stop_gained R199* 595C>T COAD-US 9 82319728 82319728 single base substitution C T stop_gained R214* 640C>T COAD-US 9 82319728 82319728 single base substitution C T stop_gained R4* 10C>T COAD-US 9 82319728 82319728 single base substitution C T stop_gained R84* 250C>T COAD-US 9 82319728 82319728 single base substitution C T upstream_gene_variant COAD-US 9 82324566 82324566 single base substitution G A 3_prime_UTR_variant COAD-US 9 82324566 82324566 single base substitution G A downstream_gene_variant COAD-US 9 82324566 82324566 single base substitution G A exon_variant COAD-US 9 82324566 82324566 single base substitution G A missense_variant R159H 476G>A COAD-US 9 82324566 82324566 single base substitution G A missense_variant R195H 584G>A COAD-US 9 82324566 82324566 single base substitution G A missense_variant R221H 662G>A COAD-US 9 82324566 82324566 single base substitution G A missense_variant R362H 1085G>A COAD-US 9 82324566 82324566 single base substitution G A missense_variant R406H 1217G>A COAD-US 9 82324566 82324566 single base substitution G A missense_variant R431H 1292G>A COAD-US 9 82324566 82324566 single base substitution G A missense_variant R463H 1388G>A COAD-US 9 82324566 82324566 single base substitution G A missense_variant R68H 203G>A COAD-US 9 82333864 82333864 single base substitution C T 3_prime_UTR_variant COAD-US 9 82333864 82333864 single base substitution C T exon_variant COAD-US 9 82333864 82333864 single base substitution C T missense_variant P160L 479C>T COAD-US 9 82333864 82333864 single base substitution C T missense_variant P338L 1013C>T COAD-US 9 82333864 82333864 single base substitution C T missense_variant P454L 1361C>T COAD-US 9 82333864 82333864 single base substitution C T missense_variant P498L 1493C>T COAD-US 9 82333864 82333864 single base substitution C T missense_variant P523L 1568C>T COAD-US 9 82333864 82333864 single base substitution C T missense_variant P555L 1664C>T COAD-US 9 82335073 82335073 single base substitution G A 3_prime_UTR_variant COAD-US 9 82335073 82335073 single base substitution G A downstream_gene_variant COAD-US 9 82335073 82335073 single base substitution G A intron_variant COAD-US 9 82335073 82335073 single base substitution G A missense_variant R205H 614G>A COAD-US 9 82335073 82335073 single base substitution G A missense_variant R499H 1496G>A COAD-US 9 82335073 82335073 single base substitution G A missense_variant R543H 1628G>A COAD-US 9 82335073 82335073 single base substitution G A missense_variant R568H 1703G>A COAD-US 9 82335073 82335073 single base substitution G A missense_variant R600H 1799G>A COAD-US 9 82337413 82337413 single base substitution G T 3_prime_UTR_variant COAD-US 9 82337413 82337413 single base substitution G T downstream_gene_variant COAD-US 9 82337413 82337413 single base substitution G T exon_variant COAD-US 9 82337413 82337413 single base substitution G T synonymous_variant G315G 945G>T COAD-US 9 82337413 82337413 single base substitution G T synonymous_variant G609G 1827G>T COAD-US 9 82337413 82337413 single base substitution G T synonymous_variant G653G 1959G>T COAD-US 9 82337413 82337413 single base substitution G T synonymous_variant G678G 2034G>T COAD-US 9 82337413 82337413 single base substitution G T synonymous_variant G710G 2130G>T COCA-CN 9 82189872 82189872 single base substitution A G exon_variant COCA-CN 9 82189872 82189872 single base substitution A G intron_variant COCA-CN 9 82189872 82189872 single base substitution A G upstream_gene_variant COCA-CN 9 82203202 82203202 single base substitution A G intron_variant COCA-CN 9 82210896 82210896 single base substitution G T intron_variant COCA-CN 9 82214818 82214818 single base substitution A T intron_variant COCA-CN 9 82220173 82220173 single base substitution C A intron_variant COCA-CN 9 82254858 82254858 single base substitution G C intron_variant COCA-CN 9 82264737 82264737 single base substitution G T downstream_gene_variant COCA-CN 9 82264737 82264737 single base substitution G T intron_variant COCA-CN 9 82264737 82264737 single base substitution G T missense_variant E131D 393G>T COCA-CN 9 82264737 82264737 single base substitution G T upstream_gene_variant COCA-CN 9 82264862 82264862 single base substitution A T downstream_gene_variant COCA-CN 9 82264862 82264862 single base substitution A T intron_variant COCA-CN 9 82264862 82264862 single base substitution A T upstream_gene_variant COCA-CN 9 82267654 82267654 single base substitution G T 3_prime_UTR_variant COCA-CN 9 82267654 82267654 single base substitution G T 5_prime_UTR_variant COCA-CN 9 82267654 82267654 single base substitution G T downstream_gene_variant COCA-CN 9 82267654 82267654 single base substitution G T exon_variant COCA-CN 9 82267654 82267654 single base substitution G T missense_variant Q154H 462G>T COCA-CN 9 82267654 82267654 single base substitution G T missense_variant Q164H 492G>T COCA-CN 9 82267654 82267654 single base substitution G T missense_variant Q177H 531G>T COCA-CN 9 82267654 82267654 single base substitution G T missense_variant Q179H 537G>T COCA-CN 9 82267654 82267654 single base substitution G T missense_variant Q193H 579G>T COCA-CN 9 82267654 82267654 single base substitution G T missense_variant Q49H 147G>T COCA-CN 9 82269012 82269012 single base substitution C A downstream_gene_variant COCA-CN 9 82269012 82269012 single base substitution C A intron_variant COCA-CN 9 82269055 82269055 single base substitution T C downstream_gene_variant COCA-CN 9 82269055 82269055 single base substitution T C intron_variant COCA-CN 9 82278877 82278877 single base substitution G A intron_variant COCA-CN 9 82281141 82281141 single base substitution T G intron_variant COCA-CN 9 82293985 82293985 single base substitution C T intron_variant COCA-CN 9 82293989 82293989 single base substitution G A intron_variant COCA-CN 9 82301047 82301047 single base substitution A G intron_variant COCA-CN 9 82301340 82301340 single base substitution C A intron_variant COCA-CN 9 82308445 82308445 single base substitution A G intron_variant COCA-CN 9 82308625 82308625 single base substitution A G intron_variant COCA-CN 9 82308667 82308667 single base substitution C T intron_variant COCA-CN 9 82321647 82321647 single base substitution G A intron_variant COCA-CN 9 82321647 82321647 single base substitution G A upstream_gene_variant COCA-CN 9 82323234 82323234 single base substitution T C downstream_gene_variant COCA-CN 9 82323234 82323234 single base substitution T C intron_variant COCA-CN 9 82323234 82323234 single base substitution T C upstream_gene_variant COCA-CN 9 82323504 82323504 single base substitution G T downstream_gene_variant COCA-CN 9 82323504 82323504 single base substitution G T intron_variant COCA-CN 9 82323504 82323504 single base substitution G T splice_region_variant COCA-CN 9 82323504 82323504 single base substitution G T upstream_gene_variant COCA-CN 9 82323671 82323671 single base substitution T C 3_prime_UTR_variant COCA-CN 9 82323671 82323671 single base substitution T C downstream_gene_variant COCA-CN 9 82323671 82323671 single base substitution T C exon_variant COCA-CN 9 82323671 82323671 single base substitution T C synonymous_variant A139A 417T>C COCA-CN 9 82323671 82323671 single base substitution T C synonymous_variant A175A 525T>C COCA-CN 9 82323671 82323671 single base substitution T C synonymous_variant A201A 603T>C COCA-CN 9 82323671 82323671 single base substitution T C synonymous_variant A230A 690T>C COCA-CN 9 82323671 82323671 single base substitution T C synonymous_variant A342A 1026T>C COCA-CN 9 82323671 82323671 single base substitution T C synonymous_variant A386A 1158T>C COCA-CN 9 82323671 82323671 single base substitution T C synonymous_variant A411A 1233T>C COCA-CN 9 82323671 82323671 single base substitution T C synonymous_variant A443A 1329T>C COCA-CN 9 82323671 82323671 single base substitution T C synonymous_variant A48A 144T>C COCA-CN 9 82323707 82323707 single base substitution T C downstream_gene_variant COCA-CN 9 82323707 82323707 single base substitution T C intron_variant COCA-CN 9 82323707 82323707 single base substitution T C splice_region_variant COCA-CN 9 82332830 82332830 single base substitution A T intron_variant COCA-CN 9 82333092 82333092 single base substitution A T intron_variant COCA-CN 9 82333751 82333751 single base substitution C T 3_prime_UTR_variant COCA-CN 9 82333751 82333751 single base substitution C T exon_variant COCA-CN 9 82333751 82333751 single base substitution C T synonymous_variant N122N 366C>T COCA-CN 9 82333751 82333751 single base substitution C T synonymous_variant N300N 900C>T COCA-CN 9 82333751 82333751 single base substitution C T synonymous_variant N416N 1248C>T COCA-CN 9 82333751 82333751 single base substitution C T synonymous_variant N460N 1380C>T COCA-CN 9 82333751 82333751 single base substitution C T synonymous_variant N485N 1455C>T COCA-CN 9 82333751 82333751 single base substitution C T synonymous_variant N517N 1551C>T COCA-CN 9 82335240 82335240 single base substitution A G downstream_gene_variant COCA-CN 9 82335240 82335240 single base substitution A G intron_variant COCA-CN 9 82336805 82336805 single base substitution T C downstream_gene_variant COCA-CN 9 82336805 82336805 single base substitution T C intron_variant COCA-CN 9 82336805 82336805 single base substitution T C splice_donor_variant COCA-CN 9 82338153 82338153 single base substitution C T downstream_gene_variant COCA-CN 9 82338153 82338153 single base substitution C T intron_variant EOPC-DE 9 82186968 82186968 single base substitution A C 5_prime_UTR_variant EOPC-DE 9 82186968 82186968 single base substitution A C upstream_gene_variant EOPC-DE 9 82241812 82241812 single base substitution T A intron_variant EOPC-DE 9 82245378 82245378 single base substitution G T downstream_gene_variant EOPC-DE 9 82245378 82245378 single base substitution G T intron_variant EOPC-DE 9 82260998 82260998 single base substitution A T intron_variant ESAD-UK 9 82181961 82181961 single base substitution C T upstream_gene_variant ESAD-UK 9 82182204 82182204 single base substitution G A upstream_gene_variant ESAD-UK 9 82182334 82182334 single base substitution G A upstream_gene_variant ESAD-UK 9 82183188 82183188 single base substitution G T upstream_gene_variant ESAD-UK 9 82183844 82183844 single base substitution C A upstream_gene_variant ESAD-UK 9 82184852 82184852 single base substitution A C upstream_gene_variant ESAD-UK 9 82185037 82185037 single base substitution G A upstream_gene_variant ESAD-UK 9 82185498 82185498 single base substitution C T upstream_gene_variant ESAD-UK 9 82187361 82187361 single base substitution G T 5_prime_UTR_variant ESAD-UK 9 82187361 82187361 single base substitution G T upstream_gene_variant ESAD-UK 9 82187404 82187404 single base substitution G C 5_prime_UTR_variant ESAD-UK 9 82187404 82187404 single base substitution G C upstream_gene_variant ESAD-UK 9 82188517 82188517 single base substitution C T exon_variant ESAD-UK 9 82188517 82188517 single base substitution C T intron_variant ESAD-UK 9 82188517 82188517 single base substitution C T upstream_gene_variant ESAD-UK 9 82189065 82189065 insertion of <=200bp - T exon_variant ESAD-UK 9 82189065 82189065 insertion of <=200bp - T intron_variant ESAD-UK 9 82189065 82189065 insertion of <=200bp - T upstream_gene_variant ESAD-UK 9 82190336 82190336 single base substitution A T downstream_gene_variant ESAD-UK 9 82190336 82190336 single base substitution A T intron_variant ESAD-UK 9 82190336 82190336 single base substitution A T upstream_gene_variant ESAD-UK 9 82190894 82190894 single base substitution G A downstream_gene_variant ESAD-UK 9 82190894 82190894 single base substitution G A exon_variant ESAD-UK 9 82190894 82190894 single base substitution G A intron_variant ESAD-UK 9 82190894 82190894 single base substitution G A upstream_gene_variant ESAD-UK 9 82191378 82191378 single base substitution C T downstream_gene_variant ESAD-UK 9 82191378 82191378 single base substitution C T intron_variant ESAD-UK 9 82191378 82191378 single base substitution C T upstream_gene_variant ESAD-UK 9 82191626 82191626 single base substitution G A 3_prime_UTR_variant ESAD-UK 9 82191626 82191626 single base substitution G A downstream_gene_variant ESAD-UK 9 82191626 82191626 single base substitution G A intron_variant ESAD-UK 9 82191626 82191626 single base substitution G A upstream_gene_variant ESAD-UK 9 82191738 82191738 single base substitution G A downstream_gene_variant ESAD-UK 9 82191738 82191738 single base substitution G A intron_variant ESAD-UK 9 82191738 82191738 single base substitution G A upstream_gene_variant ESAD-UK 9 82192275 82192275 single base substitution A C downstream_gene_variant ESAD-UK 9 82192275 82192275 single base substitution A C intron_variant ESAD-UK 9 82192275 82192275 single base substitution A C upstream_gene_variant ESAD-UK 9 82192778 82192778 single base substitution C T downstream_gene_variant ESAD-UK 9 82192778 82192778 single base substitution C T intron_variant ESAD-UK 9 82192778 82192778 single base substitution C T upstream_gene_variant ESAD-UK 9 82192975 82192975 single base substitution C T downstream_gene_variant ESAD-UK 9 82192975 82192975 single base substitution C T intron_variant ESAD-UK 9 82192975 82192975 single base substitution C T upstream_gene_variant ESAD-UK 9 82193274 82193274 single base substitution C T downstream_gene_variant ESAD-UK 9 82193274 82193274 single base substitution C T intron_variant ESAD-UK 9 82193274 82193274 single base substitution C T upstream_gene_variant ESAD-UK 9 82193292 82193292 single base substitution T A downstream_gene_variant ESAD-UK 9 82193292 82193292 single base substitution T A intron_variant ESAD-UK 9 82193292 82193292 single base substitution T A upstream_gene_variant ESAD-UK 9 82193930 82193930 single base substitution G T downstream_gene_variant ESAD-UK 9 82193930 82193930 single base substitution G T intron_variant ESAD-UK 9 82193930 82193930 single base substitution G T upstream_gene_variant ESAD-UK 9 82195947 82195947 single base substitution C A downstream_gene_variant ESAD-UK 9 82195947 82195947 single base substitution C A intron_variant ESAD-UK 9 82196714 82196714 single base substitution T C downstream_gene_variant ESAD-UK 9 82196714 82196714 single base substitution T C intron_variant ESAD-UK 9 82197379 82197379 single base substitution A G downstream_gene_variant ESAD-UK 9 82197379 82197379 single base substitution A G intron_variant ESAD-UK 9 82199697 82199697 single base substitution A G downstream_gene_variant ESAD-UK 9 82199697 82199697 single base substitution A G intron_variant ESAD-UK 9 82199786 82199786 single base substitution C T downstream_gene_variant ESAD-UK 9 82199786 82199786 single base substitution C T intron_variant ESAD-UK 9 82200672 82200672 single base substitution A G intron_variant ESAD-UK 9 82200687 82200687 single base substitution T C intron_variant ESAD-UK 9 82200810 82200810 single base substitution T G intron_variant ESAD-UK 9 82200860 82200860 single base substitution C A intron_variant ESAD-UK 9 82201015 82201015 single base substitution A G intron_variant ESAD-UK 9 82201459 82201459 single base substitution G C intron_variant ESAD-UK 9 82201584 82201584 single base substitution T G intron_variant ESAD-UK 9 82202181 82202181 single base substitution C T intron_variant ESAD-UK 9 82202471 82202471 single base substitution A G intron_variant ESAD-UK 9 82204107 82204107 single base substitution C T intron_variant ESAD-UK 9 82204194 82204194 single base substitution A T intron_variant ESAD-UK 9 82205034 82205034 single base substitution A T intron_variant ESAD-UK 9 82205128 82205128 single base substitution A C intron_variant ESAD-UK 9 82206418 82206418 single base substitution G T intron_variant ESAD-UK 9 82207946 82207946 single base substitution G A intron_variant ESAD-UK 9 82208755 82208755 single base substitution C T intron_variant ESAD-UK 9 82208789 82208789 single base substitution C T intron_variant ESAD-UK 9 82209595 82209595 single base substitution A T intron_variant ESAD-UK 9 82211647 82211647 single base substitution C T intron_variant ESAD-UK 9 82211854 82211854 single base substitution G A intron_variant ESAD-UK 9 82213755 82213755 insertion of <=200bp - C intron_variant ESAD-UK 9 82215208 82215208 single base substitution G A intron_variant ESAD-UK 9 82216077 82216077 single base substitution A G intron_variant ESAD-UK 9 82217101 82217101 single base substitution G A intron_variant ESAD-UK 9 82217748 82217748 single base substitution A G intron_variant ESAD-UK 9 82217973 82217973 single base substitution T C intron_variant ESAD-UK 9 82218668 82218668 single base substitution C T intron_variant ESAD-UK 9 82220003 82220003 single base substitution C A intron_variant ESAD-UK 9 82220718 82220718 single base substitution G T intron_variant ESAD-UK 9 82221050 82221050 single base substitution T A intron_variant ESAD-UK 9 82221928 82221928 single base substitution T A intron_variant ESAD-UK 9 82222398 82222398 single base substitution T G intron_variant ESAD-UK 9 82222821 82222821 single base substitution C A intron_variant ESAD-UK 9 82222925 82222925 single base substitution C T intron_variant ESAD-UK 9 82223855 82223855 single base substitution A T intron_variant ESAD-UK 9 82225042 82225042 single base substitution G T intron_variant ESAD-UK 9 82225664 82225664 single base substitution G T intron_variant ESAD-UK 9 82226171 82226171 single base substitution G T intron_variant ESAD-UK 9 82226238 82226238 single base substitution G A intron_variant ESAD-UK 9 82226704 82226707 deletion of <=200bp GTGA - intron_variant ESAD-UK 9 82227412 82227412 single base substitution C A intron_variant ESAD-UK 9 82228184 82228184 single base substitution T G intron_variant ESAD-UK 9 82228557 82228557 single base substitution T G intron_variant ESAD-UK 9 82230128 82230128 single base substitution G A intron_variant ESAD-UK 9 82230320 82230320 single base substitution T C intron_variant ESAD-UK 9 82230911 82230911 single base substitution C T intron_variant ESAD-UK 9 82231804 82231804 single base substitution T C intron_variant ESAD-UK 9 82232124 82232124 single base substitution G A intron_variant ESAD-UK 9 82232793 82232793 single base substitution G A intron_variant ESAD-UK 9 82233845 82233845 single base substitution G A intron_variant ESAD-UK 9 82234451 82234451 single base substitution C T intron_variant ESAD-UK 9 82235346 82235346 single base substitution G A intron_variant ESAD-UK 9 82236805 82236805 single base substitution G A intron_variant ESAD-UK 9 82237526 82237528 deletion of <=200bp ATT - intron_variant ESAD-UK 9 82237966 82237966 single base substitution A T intron_variant ESAD-UK 9 82239028 82239028 single base substitution A C intron_variant ESAD-UK 9 82240498 82240498 single base substitution A T intron_variant ESAD-UK 9 82240718 82240718 deletion of <=200bp T - intron_variant ESAD-UK 9 82241618 82241618 single base substitution C T intron_variant ESAD-UK 9 82241624 82241624 single base substitution G A intron_variant ESAD-UK 9 82243870 82243870 single base substitution C T downstream_gene_variant ESAD-UK 9 82243870 82243870 single base substitution C T intron_variant ESAD-UK 9 82244457 82244457 single base substitution A C downstream_gene_variant ESAD-UK 9 82244457 82244457 single base substitution A C intron_variant ESAD-UK 9 82245152 82245152 single base substitution C T downstream_gene_variant ESAD-UK 9 82245152 82245152 single base substitution C T intron_variant ESAD-UK 9 82245741 82245741 single base substitution G T downstream_gene_variant ESAD-UK 9 82245741 82245741 single base substitution G T intron_variant ESAD-UK 9 82245792 82245792 single base substitution G A downstream_gene_variant ESAD-UK 9 82245792 82245792 single base substitution G A intron_variant ESAD-UK 9 82246741 82246741 single base substitution G A downstream_gene_variant ESAD-UK 9 82246741 82246741 single base substitution G A intron_variant ESAD-UK 9 82246828 82246828 single base substitution T C downstream_gene_variant ESAD-UK 9 82246828 82246828 single base substitution T C intron_variant ESAD-UK 9 82247808 82247808 single base substitution T C intron_variant ESAD-UK 9 82248144 82248144 single base substitution C T intron_variant ESAD-UK 9 82251000 82251000 single base substitution C T intron_variant ESAD-UK 9 82251215 82251215 single base substitution A T intron_variant ESAD-UK 9 82251700 82251700 single base substitution G C intron_variant ESAD-UK 9 82252023 82252023 single base substitution G A intron_variant ESAD-UK 9 82253526 82253526 single base substitution G A intron_variant ESAD-UK 9 82254360 82254360 single base substitution C A intron_variant ESAD-UK 9 82254932 82254932 single base substitution G A intron_variant ESAD-UK 9 82255824 82255824 single base substitution T C intron_variant ESAD-UK 9 82256327 82256327 single base substitution G A intron_variant ESAD-UK 9 82256568 82256568 single base substitution G T intron_variant ESAD-UK 9 82256961 82256961 single base substitution G A intron_variant ESAD-UK 9 82257076 82257076 single base substitution C A intron_variant ESAD-UK 9 82257295 82257295 single base substitution C T intron_variant ESAD-UK 9 82257560 82257560 single base substitution T G intron_variant ESAD-UK 9 82258942 82258942 single base substitution T C intron_variant ESAD-UK 9 82259606 82259606 single base substitution A C intron_variant ESAD-UK 9 82260004 82260004 single base substitution T G intron_variant ESAD-UK 9 82260554 82260554 single base substitution G T intron_variant ESAD-UK 9 82261101 82261101 single base substitution C G intron_variant ESAD-UK 9 82261117 82261117 single base substitution G A intron_variant ESAD-UK 9 82262703 82262703 single base substitution A C intron_variant ESAD-UK 9 82262703 82262703 single base substitution A C upstream_gene_variant ESAD-UK 9 82263265 82263265 single base substitution T C intron_variant ESAD-UK 9 82263265 82263265 single base substitution T C upstream_gene_variant ESAD-UK 9 82263834 82263834 single base substitution C T intron_variant ESAD-UK 9 82263834 82263834 single base substitution C T upstream_gene_variant ESAD-UK 9 82264039 82264039 single base substitution A C intron_variant ESAD-UK 9 82264039 82264039 single base substitution A C upstream_gene_variant ESAD-UK 9 82264183 82264183 insertion of <=200bp - AC intron_variant ESAD-UK 9 82264183 82264183 insertion of <=200bp - AC upstream_gene_variant ESAD-UK 9 82264286 82264286 single base substitution T G intron_variant ESAD-UK 9 82264286 82264286 single base substitution T G upstream_gene_variant ESAD-UK 9 82265385 82265385 single base substitution A C downstream_gene_variant ESAD-UK 9 82265385 82265385 single base substitution A C intron_variant ESAD-UK 9 82265385 82265385 single base substitution A C upstream_gene_variant ESAD-UK 9 82265701 82265701 insertion of <=200bp - T downstream_gene_variant ESAD-UK 9 82265701 82265701 insertion of <=200bp - T intron_variant ESAD-UK 9 82265701 82265701 insertion of <=200bp - T upstream_gene_variant ESAD-UK 9 82266329 82266329 single base substitution G T downstream_gene_variant ESAD-UK 9 82266329 82266329 single base substitution G T intron_variant ESAD-UK 9 82266329 82266329 single base substitution G T upstream_gene_variant ESAD-UK 9 82266383 82266383 single base substitution T C downstream_gene_variant ESAD-UK 9 82266383 82266383 single base substitution T C intron_variant ESAD-UK 9 82266383 82266383 single base substitution T C upstream_gene_variant ESAD-UK 9 82266728 82266728 single base substitution C T downstream_gene_variant ESAD-UK 9 82266728 82266728 single base substitution C T intron_variant ESAD-UK 9 82266728 82266728 single base substitution C T upstream_gene_variant ESAD-UK 9 82267262 82267262 single base substitution C T downstream_gene_variant ESAD-UK 9 82267262 82267262 single base substitution C T intron_variant ESAD-UK 9 82267262 82267262 single base substitution C T upstream_gene_variant ESAD-UK 9 82268663 82268663 single base substitution T G downstream_gene_variant ESAD-UK 9 82268663 82268663 single base substitution T G intron_variant ESAD-UK 9 82268906 82268906 single base substitution T G downstream_gene_variant ESAD-UK 9 82268906 82268906 single base substitution T G intron_variant ESAD-UK 9 82270364 82270364 insertion of <=200bp - G downstream_gene_variant ESAD-UK 9 82270364 82270364 insertion of <=200bp - G intron_variant ESAD-UK 9 82270680 82270680 single base substitution T A downstream_gene_variant ESAD-UK 9 82270680 82270680 single base substitution T A intron_variant ESAD-UK 9 82271852 82271852 single base substitution C G downstream_gene_variant ESAD-UK 9 82271852 82271852 single base substitution C G intron_variant ESAD-UK 9 82271960 82271960 single base substitution T C downstream_gene_variant ESAD-UK 9 82271960 82271960 single base substitution T C intron_variant ESAD-UK 9 82272024 82272024 single base substitution G A downstream_gene_variant ESAD-UK 9 82272024 82272024 single base substitution G A intron_variant ESAD-UK 9 82273648 82273648 single base substitution T G intron_variant ESAD-UK 9 82273648 82273648 single base substitution T G upstream_gene_variant ESAD-UK 9 82274200 82274200 single base substitution C G intron_variant ESAD-UK 9 82274200 82274200 single base substitution C G upstream_gene_variant ESAD-UK 9 82275797 82275797 single base substitution G A intron_variant ESAD-UK 9 82275797 82275797 single base substitution G A upstream_gene_variant ESAD-UK 9 82276915 82276915 single base substitution C T intron_variant ESAD-UK 9 82276915 82276915 single base substitution C T upstream_gene_variant ESAD-UK 9 82277205 82277205 single base substitution T C intron_variant ESAD-UK 9 82277205 82277205 single base substitution T C upstream_gene_variant ESAD-UK 9 82277315 82277315 single base substitution G A intron_variant ESAD-UK 9 82277315 82277315 single base substitution G A upstream_gene_variant ESAD-UK 9 82277595 82277595 single base substitution T A intron_variant ESAD-UK 9 82277595 82277595 single base substitution T A upstream_gene_variant ESAD-UK 9 82280169 82280169 single base substitution C A intron_variant ESAD-UK 9 82280177 82280177 single base substitution C T intron_variant ESAD-UK 9 82283436 82283436 single base substitution G T intron_variant ESAD-UK 9 82283446 82283446 single base substitution G A intron_variant ESAD-UK 9 82284544 82284544 single base substitution T G intron_variant ESAD-UK 9 82284798 82284798 single base substitution T C intron_variant ESAD-UK 9 82285053 82285053 single base substitution A T intron_variant ESAD-UK 9 82288594 82288594 single base substitution T A downstream_gene_variant ESAD-UK 9 82288594 82288594 single base substitution T A intron_variant ESAD-UK 9 82288702 82288702 single base substitution C G downstream_gene_variant ESAD-UK 9 82288702 82288702 single base substitution C G intron_variant ESAD-UK 9 82288824 82288824 single base substitution C T downstream_gene_variant ESAD-UK 9 82288824 82288824 single base substitution C T intron_variant ESAD-UK 9 82289511 82289511 single base substitution C T downstream_gene_variant ESAD-UK 9 82289511 82289511 single base substitution C T intron_variant ESAD-UK 9 82289962 82289962 deletion of <=200bp T - downstream_gene_variant ESAD-UK 9 82289962 82289962 deletion of <=200bp T - intron_variant ESAD-UK 9 82290319 82290319 single base substitution G C downstream_gene_variant ESAD-UK 9 82290319 82290319 single base substitution G C intron_variant ESAD-UK 9 82290613 82290613 single base substitution C T downstream_gene_variant ESAD-UK 9 82290613 82290613 single base substitution C T intron_variant ESAD-UK 9 82292162 82292162 single base substitution G A intron_variant ESAD-UK 9 82292909 82292909 single base substitution C T intron_variant ESAD-UK 9 82296063 82296063 single base substitution T C intron_variant ESAD-UK 9 82296934 82296934 single base substitution T G intron_variant ESAD-UK 9 82297356 82297356 single base substitution T G intron_variant ESAD-UK 9 82297664 82297664 single base substitution T C intron_variant ESAD-UK 9 82297984 82297984 single base substitution A G intron_variant ESAD-UK 9 82298321 82298321 single base substitution C G intron_variant ESAD-UK 9 82299648 82299648 single base substitution G T intron_variant ESAD-UK 9 82299744 82299744 single base substitution G A intron_variant ESAD-UK 9 82301074 82301074 single base substitution C A intron_variant ESAD-UK 9 82301199 82301199 single base substitution T G intron_variant ESAD-UK 9 82301413 82301413 single base substitution C T intron_variant ESAD-UK 9 82301927 82301927 single base substitution T A intron_variant ESAD-UK 9 82302549 82302549 single base substitution C A intron_variant ESAD-UK 9 82302937 82302937 single base substitution C T intron_variant ESAD-UK 9 82303292 82303292 single base substitution G A intron_variant ESAD-UK 9 82303614 82303614 single base substitution C T intron_variant ESAD-UK 9 82303737 82303737 single base substitution T A intron_variant ESAD-UK 9 82303738 82303738 single base substitution C A intron_variant ESAD-UK 9 82305906 82305906 single base substitution G A intron_variant ESAD-UK 9 82307786 82307786 single base substitution A T intron_variant ESAD-UK 9 82308341 82308341 single base substitution T A intron_variant ESAD-UK 9 82308403 82308403 single base substitution G T intron_variant ESAD-UK 9 82308404 82308404 single base substitution G T intron_variant ESAD-UK 9 82312332 82312332 single base substitution C A intron_variant ESAD-UK 9 82312333 82312333 single base substitution T A intron_variant ESAD-UK 9 82313669 82313669 single base substitution A C intron_variant ESAD-UK 9 82313788 82313788 insertion of <=200bp - AT intron_variant ESAD-UK 9 82314986 82314986 insertion of <=200bp - GTTGCACT intron_variant ESAD-UK 9 82314986 82314986 insertion of <=200bp - GTTGCACT upstream_gene_variant ESAD-UK 9 82315026 82315026 single base substitution G A intron_variant ESAD-UK 9 82315026 82315026 single base substitution G A upstream_gene_variant ESAD-UK 9 82315073 82315073 single base substitution G A intron_variant ESAD-UK 9 82315073 82315073 single base substitution G A upstream_gene_variant ESAD-UK 9 82315551 82315551 single base substitution T A intron_variant ESAD-UK 9 82315551 82315551 single base substitution T A upstream_gene_variant ESAD-UK 9 82316974 82316974 single base substitution A T intron_variant ESAD-UK 9 82316974 82316974 single base substitution A T upstream_gene_variant ESAD-UK 9 82317210 82317210 single base substitution C T intron_variant ESAD-UK 9 82317210 82317210 single base substitution C T upstream_gene_variant ESAD-UK 9 82317836 82317836 single base substitution A C intron_variant ESAD-UK 9 82317836 82317836 single base substitution A C upstream_gene_variant ESAD-UK 9 82321023 82321023 single base substitution G T intron_variant ESAD-UK 9 82321023 82321023 single base substitution G T upstream_gene_variant ESAD-UK 9 82321726 82321726 single base substitution G A 3_prime_UTR_variant ESAD-UK 9 82321726 82321726 single base substitution G A 5_prime_UTR_variant ESAD-UK 9 82321726 82321726 single base substitution G A exon_variant ESAD-UK 9 82321726 82321726 single base substitution G A intron_variant ESAD-UK 9 82321726 82321726 single base substitution G A missense_variant R15H 44G>A ESAD-UK 9 82321726 82321726 single base substitution G A missense_variant R258H 773G>A ESAD-UK 9 82321726 82321726 single base substitution G A missense_variant R283H 848G>A ESAD-UK 9 82321726 82321726 single base substitution G A missense_variant R73H 218G>A ESAD-UK 9 82321726 82321726 single base substitution G A upstream_gene_variant ESAD-UK 9 82323605 82323605 single base substitution C T 3_prime_UTR_variant ESAD-UK 9 82323605 82323605 single base substitution C T downstream_gene_variant ESAD-UK 9 82323605 82323605 single base substitution C T exon_variant ESAD-UK 9 82323605 82323605 single base substitution C T synonymous_variant P117P 351C>T ESAD-UK 9 82323605 82323605 single base substitution C T synonymous_variant P153P 459C>T ESAD-UK 9 82323605 82323605 single base substitution C T synonymous_variant P179P 537C>T ESAD-UK 9 82323605 82323605 single base substitution C T synonymous_variant P208P 624C>T ESAD-UK 9 82323605 82323605 single base substitution C T synonymous_variant P26P 78C>T ESAD-UK 9 82323605 82323605 single base substitution C T synonymous_variant P320P 960C>T ESAD-UK 9 82323605 82323605 single base substitution C T synonymous_variant P364P 1092C>T ESAD-UK 9 82323605 82323605 single base substitution C T synonymous_variant P389P 1167C>T ESAD-UK 9 82323605 82323605 single base substitution C T synonymous_variant P421P 1263C>T ESAD-UK 9 82324612 82324612 single base substitution A C downstream_gene_variant ESAD-UK 9 82324612 82324612 single base substitution A C missense_variant K210N 630A>C ESAD-UK 9 82324612 82324612 single base substitution A C missense_variant K236N 708A>C ESAD-UK 9 82324612 82324612 single base substitution A C missense_variant K377N 1131A>C ESAD-UK 9 82324612 82324612 single base substitution A C missense_variant K421N 1263A>C ESAD-UK 9 82324612 82324612 single base substitution A C missense_variant K446N 1338A>C ESAD-UK 9 82324612 82324612 single base substitution A C missense_variant K478N 1434A>C ESAD-UK 9 82324612 82324612 single base substitution A C missense_variant K83N 249A>C ESAD-UK 9 82324612 82324612 single base substitution A C splice_region_variant ESAD-UK 9 82324655 82324655 single base substitution T C downstream_gene_variant ESAD-UK 9 82324655 82324655 single base substitution T C intron_variant ESAD-UK 9 82324726 82324726 deletion of <=200bp T - downstream_gene_variant ESAD-UK 9 82324726 82324726 deletion of <=200bp T - intron_variant ESAD-UK 9 82325605 82325605 single base substitution G A downstream_gene_variant ESAD-UK 9 82325605 82325605 single base substitution G A intron_variant ESAD-UK 9 82326430 82326430 deletion of <=200bp T - downstream_gene_variant ESAD-UK 9 82326430 82326430 deletion of <=200bp T - intron_variant ESAD-UK 9 82327660 82327660 single base substitution G A downstream_gene_variant ESAD-UK 9 82327660 82327660 single base substitution G A intron_variant ESAD-UK 9 82328705 82328705 single base substitution C T downstream_gene_variant ESAD-UK 9 82328705 82328705 single base substitution C T intron_variant ESAD-UK 9 82329096 82329096 single base substitution C T downstream_gene_variant ESAD-UK 9 82329096 82329096 single base substitution C T intron_variant ESAD-UK 9 82330016 82330016 single base substitution C G intron_variant ESAD-UK 9 82330451 82330451 single base substitution T C intron_variant ESAD-UK 9 82330591 82330591 single base substitution T C intron_variant ESAD-UK 9 82330667 82330667 single base substitution C T intron_variant ESAD-UK 9 82331056 82331056 single base substitution T G intron_variant ESAD-UK 9 82331057 82331057 single base substitution C T intron_variant ESAD-UK 9 82331105 82331105 single base substitution C T intron_variant ESAD-UK 9 82331200 82331200 single base substitution C T intron_variant ESAD-UK 9 82333224 82333224 single base substitution C T intron_variant ESAD-UK 9 82333800 82333800 single base substitution G T 3_prime_UTR_variant ESAD-UK 9 82333800 82333800 single base substitution G T exon_variant ESAD-UK 9 82333800 82333800 single base substitution G T missense_variant V139L 415G>T ESAD-UK 9 82333800 82333800 single base substitution G T missense_variant V317L 949G>T ESAD-UK 9 82333800 82333800 single base substitution G T missense_variant V433L 1297G>T ESAD-UK 9 82333800 82333800 single base substitution G T missense_variant V477L 1429G>T ESAD-UK 9 82333800 82333800 single base substitution G T missense_variant V502L 1504G>T ESAD-UK 9 82333800 82333800 single base substitution G T missense_variant V534L 1600G>T ESAD-UK 9 82334231 82334231 single base substitution A G downstream_gene_variant ESAD-UK 9 82334231 82334231 single base substitution A G intron_variant ESAD-UK 9 82335707 82335707 single base substitution T A downstream_gene_variant ESAD-UK 9 82335707 82335707 single base substitution T A intron_variant ESAD-UK 9 82335709 82335709 single base substitution A G downstream_gene_variant ESAD-UK 9 82335709 82335709 single base substitution A G intron_variant ESAD-UK 9 82336712 82336712 single base substitution C T 3_prime_UTR_variant ESAD-UK 9 82336712 82336712 single base substitution C T downstream_gene_variant ESAD-UK 9 82336712 82336712 single base substitution C T intron_variant ESAD-UK 9 82336712 82336712 single base substitution C T missense_variant T269I 806C>T ESAD-UK 9 82336712 82336712 single base substitution C T missense_variant T563I 1688C>T ESAD-UK 9 82336712 82336712 single base substitution C T missense_variant T607I 1820C>T ESAD-UK 9 82336712 82336712 single base substitution C T missense_variant T632I 1895C>T ESAD-UK 9 82336712 82336712 single base substitution C T missense_variant T664I 1991C>T ESAD-UK 9 82336794 82336794 single base substitution C A 3_prime_UTR_variant ESAD-UK 9 82336794 82336794 single base substitution C A downstream_gene_variant ESAD-UK 9 82336794 82336794 single base substitution C A intron_variant ESAD-UK 9 82336794 82336794 single base substitution C A missense_variant F296L 888C>A ESAD-UK 9 82336794 82336794 single base substitution C A missense_variant F590L 1770C>A ESAD-UK 9 82336794 82336794 single base substitution C A missense_variant F634L 1902C>A ESAD-UK 9 82336794 82336794 single base substitution C A missense_variant F659L 1977C>A ESAD-UK 9 82336794 82336794 single base substitution C A missense_variant F691L 2073C>A ESAD-UK 9 82337590 82337590 single base substitution A T downstream_gene_variant ESAD-UK 9 82337590 82337590 single base substitution A T intron_variant ESAD-UK 9 82340215 82340215 single base substitution T C 3_prime_UTR_variant ESAD-UK 9 82340215 82340215 single base substitution T C downstream_gene_variant ESAD-UK 9 82340878 82340878 single base substitution T G 3_prime_UTR_variant ESAD-UK 9 82340878 82340878 single base substitution T G downstream_gene_variant ESAD-UK 9 82341516 82341516 single base substitution A C 3_prime_UTR_variant ESAD-UK 9 82341516 82341516 single base substitution A C downstream_gene_variant ESAD-UK 9 82341850 82341850 single base substitution T G downstream_gene_variant ESAD-UK 9 82342993 82342993 single base substitution C G downstream_gene_variant ESAD-UK 9 82344221 82344221 single base substitution T G downstream_gene_variant ESAD-UK 9 82344268 82344268 single base substitution T A downstream_gene_variant ESAD-UK 9 82345338 82345338 single base substitution A G downstream_gene_variant ESAD-UK 9 82346477 82346477 single base substitution A G downstream_gene_variant ESCA-CN 9 82308670 82308670 single base substitution A G intron_variant ESCA-CN 9 82341289 82341289 single base substitution C T 3_prime_UTR_variant ESCA-CN 9 82341289 82341289 single base substitution C T downstream_gene_variant GBM-US 9 82227600 82227600 single base substitution C T 3_prime_UTR_variant GBM-US 9 82227600 82227600 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant GBM-US 9 82227600 82227600 single base substitution C T exon_variant GBM-US 9 82227600 82227600 single base substitution C T intron_variant GBM-US 9 82227600 82227600 single base substitution C T synonymous_variant I79I 237C>T GBM-US 9 82227600 82227600 single base substitution C T synonymous_variant I92I 276C>T GBM-US 9 82227600 82227600 single base substitution C T synonymous_variant I94I 282C>T GBM-US 9 82324566 82324566 single base substitution G A 3_prime_UTR_variant GBM-US 9 82324566 82324566 single base substitution G A downstream_gene_variant GBM-US 9 82324566 82324566 single base substitution G A exon_variant GBM-US 9 82324566 82324566 single base substitution G A missense_variant R159H 476G>A GBM-US 9 82324566 82324566 single base substitution G A missense_variant R195H 584G>A GBM-US 9 82324566 82324566 single base substitution G A missense_variant R221H 662G>A GBM-US 9 82324566 82324566 single base substitution G A missense_variant R362H 1085G>A GBM-US 9 82324566 82324566 single base substitution G A missense_variant R406H 1217G>A GBM-US 9 82324566 82324566 single base substitution G A missense_variant R431H 1292G>A GBM-US 9 82324566 82324566 single base substitution G A missense_variant R463H 1388G>A GBM-US 9 82324566 82324566 single base substitution G A missense_variant R68H 203G>A GBM-US 9 82333807 82333807 single base substitution C T 3_prime_UTR_variant GBM-US 9 82333807 82333807 single base substitution C T exon_variant GBM-US 9 82333807 82333807 single base substitution C T missense_variant T141M 422C>T GBM-US 9 82333807 82333807 single base substitution C T missense_variant T319M 956C>T GBM-US 9 82333807 82333807 single base substitution C T missense_variant T435M 1304C>T GBM-US 9 82333807 82333807 single base substitution C T missense_variant T479M 1436C>T GBM-US 9 82333807 82333807 single base substitution C T missense_variant T504M 1511C>T GBM-US 9 82333807 82333807 single base substitution C T missense_variant T536M 1607C>T KIRP-US 9 82267584 82267584 single base substitution A G 3_prime_UTR_variant KIRP-US 9 82267584 82267584 single base substitution A G 5_prime_UTR_variant KIRP-US 9 82267584 82267584 single base substitution A G downstream_gene_variant KIRP-US 9 82267584 82267584 single base substitution A G exon_variant KIRP-US 9 82267584 82267584 single base substitution A G missense_variant Q131R 392A>G KIRP-US 9 82267584 82267584 single base substitution A G missense_variant Q141R 422A>G KIRP-US 9 82267584 82267584 single base substitution A G missense_variant Q154R 461A>G KIRP-US 9 82267584 82267584 single base substitution A G missense_variant Q156R 467A>G KIRP-US 9 82267584 82267584 single base substitution A G missense_variant Q170R 509A>G KIRP-US 9 82267584 82267584 single base substitution A G missense_variant Q26R 77A>G KIRP-US 9 82267584 82267584 single base substitution A G upstream_gene_variant LAML-KR 9 82193770 82193770 single base substitution C A downstream_gene_variant LAML-KR 9 82193770 82193770 single base substitution C A intron_variant LAML-KR 9 82193770 82193770 single base substitution C A upstream_gene_variant LICA-CN 9 82335105 82335105 single base substitution G T 3_prime_UTR_variant LICA-CN 9 82335105 82335105 single base substitution G T downstream_gene_variant LICA-CN 9 82335105 82335105 single base substitution G T intron_variant LICA-CN 9 82335105 82335105 single base substitution G T missense_variant A216S 646G>T LICA-CN 9 82335105 82335105 single base substitution G T missense_variant A510S 1528G>T LICA-CN 9 82335105 82335105 single base substitution G T missense_variant A554S 1660G>T LICA-CN 9 82335105 82335105 single base substitution G T missense_variant A579S 1735G>T LICA-CN 9 82335105 82335105 single base substitution G T missense_variant A611S 1831G>T LICA-FR 9 82189839 82189839 single base substitution G A 5_prime_UTR_variant LICA-FR 9 82189839 82189839 single base substitution G A exon_variant LICA-FR 9 82189839 82189839 single base substitution G A synonymous_variant R50R 150G>A LICA-FR 9 82189839 82189839 single base substitution G A synonymous_variant R63R 189G>A LICA-FR 9 82189839 82189839 single base substitution G A synonymous_variant R65R 195G>A LICA-FR 9 82189839 82189839 single base substitution G A upstream_gene_variant LICA-FR 9 82204009 82204009 single base substitution A G intron_variant LICA-FR 9 82213014 82213014 single base substitution C T intron_variant LICA-FR 9 82216210 82216210 single base substitution A C intron_variant LICA-FR 9 82221892 82221892 single base substitution A G intron_variant LICA-FR 9 82239909 82239909 single base substitution C T intron_variant LICA-FR 9 82265947 82265947 insertion of <=200bp - TC downstream_gene_variant LICA-FR 9 82265947 82265947 insertion of <=200bp - TC intron_variant LICA-FR 9 82265947 82265947 insertion of <=200bp - TC upstream_gene_variant LICA-FR 9 82265947 82265960 deletion of <=200bp TCTCTCTCTCTCTC - downstream_gene_variant LICA-FR 9 82265947 82265960 deletion of <=200bp TCTCTCTCTCTCTC - intron_variant LICA-FR 9 82265947 82265960 deletion of <=200bp TCTCTCTCTCTCTC - upstream_gene_variant LICA-FR 9 82269411 82269411 deletion of <=200bp T - downstream_gene_variant LICA-FR 9 82269411 82269411 deletion of <=200bp T - intron_variant LICA-FR 9 82286841 82286841 deletion of <=200bp A - downstream_gene_variant LICA-FR 9 82286841 82286841 deletion of <=200bp A - intron_variant LICA-FR 9 82286903 82286903 single base substitution C A downstream_gene_variant LICA-FR 9 82286903 82286903 single base substitution C A intron_variant LICA-FR 9 82291935 82291935 single base substitution T A intron_variant LICA-FR 9 82309266 82309266 single base substitution A G intron_variant LICA-FR 9 82314660 82314660 single base substitution G C intron_variant LICA-FR 9 82314660 82314660 single base substitution G C upstream_gene_variant LICA-FR 9 82319292 82319300 deletion of <=200bp TACTGGGAT - intron_variant LICA-FR 9 82319292 82319300 deletion of <=200bp TACTGGGAT - upstream_gene_variant LICA-FR 9 82322297 82322297 single base substitution T C intron_variant LICA-FR 9 82322297 82322297 single base substitution T C upstream_gene_variant LICA-FR 9 82323108 82323108 single base substitution A T 3_prime_UTR_variant LICA-FR 9 82323108 82323108 single base substitution A T 5_prime_UTR_variant LICA-FR 9 82323108 82323108 single base substitution A T downstream_gene_variant LICA-FR 9 82323108 82323108 single base substitution A T exon_variant LICA-FR 9 82323108 82323108 single base substitution A T missense_variant N102Y 304A>T LICA-FR 9 82323108 82323108 single base substitution A T missense_variant N128Y 382A>T LICA-FR 9 82323108 82323108 single base substitution A T missense_variant N157Y 469A>T LICA-FR 9 82323108 82323108 single base substitution A T missense_variant N269Y 805A>T LICA-FR 9 82323108 82323108 single base substitution A T missense_variant N304Y 910A>T LICA-FR 9 82323108 82323108 single base substitution A T missense_variant N313Y 937A>T LICA-FR 9 82323108 82323108 single base substitution A T missense_variant N338Y 1012A>T LICA-FR 9 82323108 82323108 single base substitution A T missense_variant N370Y 1108A>T LICA-FR 9 82323108 82323108 single base substitution A T missense_variant N66Y 196A>T LICA-FR 9 82323108 82323108 single base substitution A T upstream_gene_variant LICA-FR 9 82343301 82343301 single base substitution A G downstream_gene_variant LIHC-US 9 82267541 82267541 single base substitution C A 3_prime_UTR_variant LIHC-US 9 82267541 82267541 single base substitution C A 5_prime_UTR_variant LIHC-US 9 82267541 82267541 single base substitution C A downstream_gene_variant LIHC-US 9 82267541 82267541 single base substitution C A exon_variant LIHC-US 9 82267541 82267541 single base substitution C A missense_variant H117N 349C>A LIHC-US 9 82267541 82267541 single base substitution C A missense_variant H127N 379C>A LIHC-US 9 82267541 82267541 single base substitution C A missense_variant H128N 382C>A LIHC-US 9 82267541 82267541 single base substitution C A missense_variant H12N 34C>A LIHC-US 9 82267541 82267541 single base substitution C A missense_variant H140N 418C>A LIHC-US 9 82267541 82267541 single base substitution C A missense_variant H142N 424C>A LIHC-US 9 82267541 82267541 single base substitution C A missense_variant H156N 466C>A LIHC-US 9 82267541 82267541 single base substitution C A upstream_gene_variant LIHC-US 9 82334962 82334962 single base substitution A G downstream_gene_variant LIHC-US 9 82334962 82334962 single base substitution A G intron_variant LIHC-US 9 82334962 82334962 single base substitution A G missense_variant N168S 503A>G LIHC-US 9 82334962 82334962 single base substitution A G missense_variant N462S 1385A>G LIHC-US 9 82334962 82334962 single base substitution A G missense_variant N506S 1517A>G LIHC-US 9 82334962 82334962 single base substitution A G missense_variant N531S 1592A>G LIHC-US 9 82334962 82334962 single base substitution A G missense_variant N563S 1688A>G LIHC-US 9 82334962 82334962 single base substitution A G splice_region_variant LIHC-US 9 82337475 82337475 single base substitution T C 3_prime_UTR_variant LIHC-US 9 82337475 82337475 single base substitution T C downstream_gene_variant LIHC-US 9 82337475 82337475 single base substitution T C exon_variant LIHC-US 9 82337475 82337475 single base substitution T C missense_variant L336P 1007T>C LIHC-US 9 82337475 82337475 single base substitution T C missense_variant L630P 1889T>C LIHC-US 9 82337475 82337475 single base substitution T C missense_variant L674P 2021T>C LIHC-US 9 82337475 82337475 single base substitution T C missense_variant L699P 2096T>C LIHC-US 9 82337475 82337475 single base substitution T C missense_variant L731P 2192T>C LINC-JP 9 82185738 82185738 deletion of <=200bp C - upstream_gene_variant LINC-JP 9 82187531 82187531 single base substitution C T 5_prime_UTR_variant LINC-JP 9 82187531 82187531 single base substitution C T upstream_gene_variant LINC-JP 9 82187691 82187691 single base substitution A G 5_prime_UTR_variant LINC-JP 9 82187691 82187691 single base substitution A G exon_variant LINC-JP 9 82187691 82187691 single base substitution A G upstream_gene_variant LINC-JP 9 82212301 82212301 single base substitution T C intron_variant LINC-JP 9 82213578 82213578 single base substitution C T intron_variant LINC-JP 9 82221847 82221847 single base substitution G A intron_variant LINC-JP 9 82224173 82224173 single base substitution T C intron_variant LINC-JP 9 82227617 82227617 single base substitution C T 3_prime_UTR_variant LINC-JP 9 82227617 82227617 single base substitution C T 5_prime_UTR_variant LINC-JP 9 82227617 82227617 single base substitution C T exon_variant LINC-JP 9 82227617 82227617 single base substitution C T intron_variant LINC-JP 9 82227617 82227617 single base substitution C T missense_variant P100L 299C>T LINC-JP 9 82227617 82227617 single base substitution C T missense_variant P85L 254C>T LINC-JP 9 82227617 82227617 single base substitution C T missense_variant P98L 293C>T LINC-JP 9 82234150 82234150 single base substitution C T intron_variant LINC-JP 9 82242228 82242228 single base substitution A G intron_variant LINC-JP 9 82242285 82242285 single base substitution A G intron_variant LINC-JP 9 82242285 82242285 single base substitution A G splice_region_variant LINC-JP 9 82254924 82254924 single base substitution A G intron_variant LINC-JP 9 82255817 82255817 single base substitution G A intron_variant LINC-JP 9 82269163 82269163 single base substitution T A downstream_gene_variant LINC-JP 9 82269163 82269163 single base substitution T A intron_variant LINC-JP 9 82269551 82269551 single base substitution T C downstream_gene_variant LINC-JP 9 82269551 82269551 single base substitution T C intron_variant LINC-JP 9 82271507 82271507 single base substitution C T downstream_gene_variant LINC-JP 9 82271507 82271507 single base substitution C T intron_variant LINC-JP 9 82285786 82285786 deletion of <=200bp T - intron_variant LINC-JP 9 82291809 82291809 single base substitution G A intron_variant LINC-JP 9 82298027 82298027 single base substitution G T intron_variant LINC-JP 9 82303224 82303224 single base substitution G A intron_variant LINC-JP 9 82304255 82304255 single base substitution C T intron_variant LINC-JP 9 82322211 82322211 single base substitution A G intron_variant LINC-JP 9 82322211 82322211 single base substitution A G upstream_gene_variant LINC-JP 9 82323062 82323062 single base substitution G C 3_prime_UTR_variant LINC-JP 9 82323062 82323062 single base substitution G C 5_prime_UTR_variant LINC-JP 9 82323062 82323062 single base substitution G C exon_variant LINC-JP 9 82323062 82323062 single base substitution G C missense_variant K112N 336G>C LINC-JP 9 82323062 82323062 single base substitution G C missense_variant K141N 423G>C LINC-JP 9 82323062 82323062 single base substitution G C missense_variant K253N 759G>C LINC-JP 9 82323062 82323062 single base substitution G C missense_variant K288N 864G>C LINC-JP 9 82323062 82323062 single base substitution G C missense_variant K297N 891G>C LINC-JP 9 82323062 82323062 single base substitution G C missense_variant K322N 966G>C LINC-JP 9 82323062 82323062 single base substitution G C missense_variant K354N 1062G>C LINC-JP 9 82323062 82323062 single base substitution G C missense_variant K50N 150G>C LINC-JP 9 82323062 82323062 single base substitution G C missense_variant K86N 258G>C LINC-JP 9 82323062 82323062 single base substitution G C upstream_gene_variant LINC-JP 9 82329612 82329612 single base substitution T G downstream_gene_variant LINC-JP 9 82329612 82329612 single base substitution T G intron_variant LINC-JP 9 82334465 82334465 single base substitution A T downstream_gene_variant LINC-JP 9 82334465 82334465 single base substitution A T intron_variant LINC-JP 9 82336748 82336748 single base substitution G T 3_prime_UTR_variant LINC-JP 9 82336748 82336748 single base substitution G T downstream_gene_variant LINC-JP 9 82336748 82336748 single base substitution G T intron_variant LINC-JP 9 82336748 82336748 single base substitution G T missense_variant R281M 842G>T LINC-JP 9 82336748 82336748 single base substitution G T missense_variant R575M 1724G>T LINC-JP 9 82336748 82336748 single base substitution G T missense_variant R619M 1856G>T LINC-JP 9 82336748 82336748 single base substitution G T missense_variant R644M 1931G>T LINC-JP 9 82336748 82336748 single base substitution G T missense_variant R676M 2027G>T LINC-JP 9 82339085 82339085 deletion of <=200bp T - downstream_gene_variant LINC-JP 9 82339085 82339085 deletion of <=200bp T - intron_variant LINC-JP 9 82346010 82346010 single base substitution G T downstream_gene_variant LIRI-JP 9 82183707 82183707 single base substitution C T upstream_gene_variant LIRI-JP 9 82184219 82184219 single base substitution G T upstream_gene_variant LIRI-JP 9 82184329 82184329 single base substitution T A upstream_gene_variant LIRI-JP 9 82185323 82185323 single base substitution C T upstream_gene_variant LIRI-JP 9 82186604 82186604 single base substitution C T upstream_gene_variant LIRI-JP 9 82188660 82188660 single base substitution G A 5_prime_UTR_variant LIRI-JP 9 82188660 82188660 single base substitution G A exon_variant LIRI-JP 9 82188660 82188660 single base substitution G A synonymous_variant R19R 57G>A LIRI-JP 9 82188660 82188660 single base substitution G A synonymous_variant R32R 96G>A LIRI-JP 9 82188660 82188660 single base substitution G A synonymous_variant R34R 102G>A LIRI-JP 9 82188660 82188660 single base substitution G A upstream_gene_variant LIRI-JP 9 82188679 82188679 single base substitution T G 5_prime_UTR_variant LIRI-JP 9 82188679 82188679 single base substitution T G exon_variant LIRI-JP 9 82188679 82188679 single base substitution T G missense_variant F26V 76T>G LIRI-JP 9 82188679 82188679 single base substitution T G missense_variant F39V 115T>G LIRI-JP 9 82188679 82188679 single base substitution T G missense_variant F41V 121T>G LIRI-JP 9 82188679 82188679 single base substitution T G upstream_gene_variant LIRI-JP 9 82188839 82188839 single base substitution G C intron_variant LIRI-JP 9 82188839 82188839 single base substitution G C upstream_gene_variant LIRI-JP 9 82189124 82189124 single base substitution A G intron_variant LIRI-JP 9 82189124 82189124 single base substitution A G upstream_gene_variant LIRI-JP 9 82189222 82189222 single base substitution A G intron_variant LIRI-JP 9 82189222 82189222 single base substitution A G upstream_gene_variant LIRI-JP 9 82190444 82190444 single base substitution C T downstream_gene_variant LIRI-JP 9 82190444 82190444 single base substitution C T intron_variant LIRI-JP 9 82190444 82190444 single base substitution C T upstream_gene_variant LIRI-JP 9 82192003 82192003 single base substitution A G downstream_gene_variant LIRI-JP 9 82192003 82192003 single base substitution A G intron_variant LIRI-JP 9 82192003 82192003 single base substitution A G upstream_gene_variant LIRI-JP 9 82193577 82193577 single base substitution G T downstream_gene_variant LIRI-JP 9 82193577 82193577 single base substitution G T intron_variant LIRI-JP 9 82193577 82193577 single base substitution G T upstream_gene_variant LIRI-JP 9 82194657 82194657 single base substitution A G downstream_gene_variant LIRI-JP 9 82194657 82194657 single base substitution A G intron_variant LIRI-JP 9 82194657 82194657 single base substitution A G upstream_gene_variant LIRI-JP 9 82195361 82195361 single base substitution A G downstream_gene_variant LIRI-JP 9 82195361 82195361 single base substitution A G intron_variant LIRI-JP 9 82197438 82197438 single base substitution A G downstream_gene_variant LIRI-JP 9 82197438 82197438 single base substitution A G intron_variant LIRI-JP 9 82197888 82197888 single base substitution A G downstream_gene_variant LIRI-JP 9 82197888 82197888 single base substitution A G intron_variant LIRI-JP 9 82198035 82198035 single base substitution G A downstream_gene_variant LIRI-JP 9 82198035 82198035 single base substitution G A intron_variant LIRI-JP 9 82198490 82198490 single base substitution G T downstream_gene_variant LIRI-JP 9 82198490 82198490 single base substitution G T intron_variant LIRI-JP 9 82198787 82198787 deletion of <=200bp A - downstream_gene_variant LIRI-JP 9 82198787 82198787 deletion of <=200bp A - intron_variant LIRI-JP 9 82201244 82201244 single base substitution C G intron_variant LIRI-JP 9 82203498 82203498 single base substitution T A intron_variant LIRI-JP 9 82205296 82205296 single base substitution C T intron_variant LIRI-JP 9 82208365 82208365 single base substitution T A intron_variant LIRI-JP 9 82211789 82211789 single base substitution A T intron_variant LIRI-JP 9 82213196 82213196 single base substitution A G intron_variant LIRI-JP 9 82216408 82216408 single base substitution C T 3_prime_UTR_variant LIRI-JP 9 82216408 82216408 single base substitution C T intron_variant LIRI-JP 9 82216444 82216444 single base substitution A G intron_variant LIRI-JP 9 82218091 82218091 single base substitution A G intron_variant LIRI-JP 9 82219062 82219062 single base substitution A G intron_variant LIRI-JP 9 82219907 82219907 insertion of <=200bp - GAA intron_variant LIRI-JP 9 82223485 82223485 single base substitution C G intron_variant LIRI-JP 9 82223592 82223592 single base substitution A G intron_variant LIRI-JP 9 82224642 82224642 single base substitution A C intron_variant LIRI-JP 9 82224792 82224792 single base substitution G C intron_variant LIRI-JP 9 82225636 82225636 single base substitution T A intron_variant LIRI-JP 9 82227101 82227101 single base substitution T G intron_variant LIRI-JP 9 82227974 82227974 single base substitution G A intron_variant LIRI-JP 9 82228179 82228179 single base substitution G A intron_variant LIRI-JP 9 82231561 82231561 single base substitution G T intron_variant LIRI-JP 9 82232421 82232421 single base substitution A G intron_variant LIRI-JP 9 82232549 82232549 single base substitution A G intron_variant LIRI-JP 9 82233728 82233728 single base substitution G C intron_variant LIRI-JP 9 82234228 82234228 single base substitution C T intron_variant LIRI-JP 9 82235052 82235052 single base substitution T C intron_variant LIRI-JP 9 82239496 82239496 single base substitution G T intron_variant LIRI-JP 9 82240318 82240318 single base substitution C T intron_variant LIRI-JP 9 82240777 82240777 single base substitution A G intron_variant LIRI-JP 9 82241028 82241028 single base substitution T C intron_variant LIRI-JP 9 82241059 82241059 single base substitution C G intron_variant LIRI-JP 9 82241654 82241654 deletion of <=200bp G - intron_variant LIRI-JP 9 82241936 82241936 single base substitution T C intron_variant LIRI-JP 9 82243702 82243702 single base substitution C T downstream_gene_variant LIRI-JP 9 82243702 82243702 single base substitution C T intron_variant LIRI-JP 9 82244147 82244147 single base substitution T C downstream_gene_variant LIRI-JP 9 82244147 82244147 single base substitution T C intron_variant LIRI-JP 9 82244620 82244620 single base substitution A G downstream_gene_variant LIRI-JP 9 82244620 82244620 single base substitution A G intron_variant LIRI-JP 9 82245166 82245166 single base substitution A G downstream_gene_variant LIRI-JP 9 82245166 82245166 single base substitution A G intron_variant LIRI-JP 9 82246914 82246914 single base substitution A T downstream_gene_variant LIRI-JP 9 82246914 82246914 single base substitution A T intron_variant LIRI-JP 9 82246995 82246995 single base substitution A G downstream_gene_variant LIRI-JP 9 82246995 82246995 single base substitution A G intron_variant LIRI-JP 9 82247691 82247691 single base substitution A G intron_variant LIRI-JP 9 82247953 82247953 single base substitution C G intron_variant LIRI-JP 9 82249907 82249907 single base substitution G A intron_variant LIRI-JP 9 82253302 82253302 single base substitution A T intron_variant LIRI-JP 9 82253557 82253557 single base substitution C T intron_variant LIRI-JP 9 82253941 82253941 single base substitution A G intron_variant LIRI-JP 9 82257372 82257372 single base substitution A G intron_variant LIRI-JP 9 82260646 82260649 deletion of <=200bp AATT - intron_variant LIRI-JP 9 82260696 82260696 single base substitution C T intron_variant LIRI-JP 9 82262728 82262728 single base substitution A C intron_variant LIRI-JP 9 82262728 82262728 single base substitution A C upstream_gene_variant LIRI-JP 9 82264147 82264147 single base substitution A T intron_variant LIRI-JP 9 82264147 82264147 single base substitution A T upstream_gene_variant LIRI-JP 9 82265075 82265075 single base substitution A C downstream_gene_variant LIRI-JP 9 82265075 82265075 single base substitution A C intron_variant LIRI-JP 9 82265075 82265075 single base substitution A C upstream_gene_variant LIRI-JP 9 82267029 82267029 single base substitution G T downstream_gene_variant LIRI-JP 9 82267029 82267029 single base substitution G T intron_variant LIRI-JP 9 82267029 82267029 single base substitution G T upstream_gene_variant LIRI-JP 9 82268505 82268505 single base substitution G T downstream_gene_variant LIRI-JP 9 82268505 82268505 single base substitution G T intron_variant LIRI-JP 9 82269683 82269683 single base substitution C G downstream_gene_variant LIRI-JP 9 82269683 82269683 single base substitution C G intron_variant LIRI-JP 9 82269783 82269783 single base substitution G T downstream_gene_variant LIRI-JP 9 82269783 82269783 single base substitution G T intron_variant LIRI-JP 9 82273356 82273356 single base substitution G A intron_variant LIRI-JP 9 82273625 82273625 single base substitution A G intron_variant LIRI-JP 9 82273625 82273625 single base substitution A G upstream_gene_variant LIRI-JP 9 82274107 82274107 single base substitution G A intron_variant LIRI-JP 9 82274107 82274107 single base substitution G A upstream_gene_variant LIRI-JP 9 82275306 82275306 single base substitution A G intron_variant LIRI-JP 9 82275306 82275306 single base substitution A G upstream_gene_variant LIRI-JP 9 82279001 82279001 single base substitution G T intron_variant LIRI-JP 9 82279002 82279002 single base substitution G T intron_variant LIRI-JP 9 82279368 82279368 single base substitution A G intron_variant LIRI-JP 9 82280649 82280649 single base substitution C A intron_variant LIRI-JP 9 82280713 82280713 single base substitution G A intron_variant LIRI-JP 9 82281515 82281515 single base substitution A G intron_variant LIRI-JP 9 82281786 82281786 single base substitution A T intron_variant LIRI-JP 9 82283370 82283370 single base substitution C A intron_variant LIRI-JP 9 82283800 82283800 single base substitution A G intron_variant LIRI-JP 9 82284584 82284584 single base substitution C G intron_variant LIRI-JP 9 82286636 82286636 single base substitution T C downstream_gene_variant LIRI-JP 9 82286636 82286636 single base substitution T C intron_variant LIRI-JP 9 82290807 82290807 single base substitution T C downstream_gene_variant LIRI-JP 9 82290807 82290807 single base substitution T C intron_variant LIRI-JP 9 82291010 82291010 single base substitution G A downstream_gene_variant LIRI-JP 9 82291010 82291010 single base substitution G A intron_variant LIRI-JP 9 82293617 82293617 single base substitution T A intron_variant LIRI-JP 9 82298183 82298183 single base substitution C T intron_variant LIRI-JP 9 82298477 82298477 single base substitution A G intron_variant LIRI-JP 9 82299042 82299042 single base substitution A G intron_variant LIRI-JP 9 82301182 82301182 single base substitution T C intron_variant LIRI-JP 9 82301990 82301990 single base substitution T C intron_variant LIRI-JP 9 82303688 82303688 single base substitution A G intron_variant LIRI-JP 9 82304184 82304184 single base substitution A T intron_variant LIRI-JP 9 82304511 82304511 single base substitution C A intron_variant LIRI-JP 9 82305108 82305108 single base substitution G T intron_variant LIRI-JP 9 82306931 82306931 single base substitution G A intron_variant LIRI-JP 9 82307234 82307234 single base substitution G T intron_variant LIRI-JP 9 82307465 82307465 single base substitution G T intron_variant LIRI-JP 9 82307474 82307474 single base substitution A G intron_variant LIRI-JP 9 82309310 82309310 single base substitution A T intron_variant LIRI-JP 9 82311288 82311288 single base substitution A G intron_variant LIRI-JP 9 82312855 82312855 single base substitution T G intron_variant LIRI-JP 9 82312962 82312962 single base substitution G T intron_variant LIRI-JP 9 82312963 82312963 single base substitution G T intron_variant LIRI-JP 9 82313536 82313536 single base substitution G A intron_variant LIRI-JP 9 82316284 82316285 deletion of <=200bp AT - intron_variant LIRI-JP 9 82316284 82316285 deletion of <=200bp AT - upstream_gene_variant LIRI-JP 9 82317252 82317252 single base substitution G A intron_variant LIRI-JP 9 82317252 82317252 single base substitution G A upstream_gene_variant LIRI-JP 9 82317659 82317659 single base substitution G T intron_variant LIRI-JP 9 82317659 82317659 single base substitution G T upstream_gene_variant LIRI-JP 9 82318455 82318455 single base substitution G T intron_variant LIRI-JP 9 82318455 82318455 single base substitution G T upstream_gene_variant LIRI-JP 9 82318599 82318599 single base substitution A C intron_variant LIRI-JP 9 82318599 82318599 single base substitution A C upstream_gene_variant LIRI-JP 9 82321606 82321606 deletion of <=200bp C - intron_variant LIRI-JP 9 82321606 82321606 deletion of <=200bp C - upstream_gene_variant LIRI-JP 9 82321696 82321696 single base substitution C G 3_prime_UTR_variant LIRI-JP 9 82321696 82321696 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 9 82321696 82321696 single base substitution C G exon_variant LIRI-JP 9 82321696 82321696 single base substitution C G intron_variant LIRI-JP 9 82321696 82321696 single base substitution C G missense_variant S248C 743C>G LIRI-JP 9 82321696 82321696 single base substitution C G missense_variant S273C 818C>G LIRI-JP 9 82321696 82321696 single base substitution C G missense_variant S5C 14C>G LIRI-JP 9 82321696 82321696 single base substitution C G missense_variant S63C 188C>G LIRI-JP 9 82321696 82321696 single base substitution C G upstream_gene_variant LIRI-JP 9 82322532 82322532 single base substitution T G intron_variant LIRI-JP 9 82322532 82322532 single base substitution T G upstream_gene_variant LIRI-JP 9 82323938 82323938 single base substitution G T downstream_gene_variant LIRI-JP 9 82323938 82323938 single base substitution G T intron_variant LIRI-JP 9 82324163 82324163 single base substitution G T downstream_gene_variant LIRI-JP 9 82324163 82324163 single base substitution G T intron_variant LIRI-JP 9 82326392 82326392 single base substitution A G downstream_gene_variant LIRI-JP 9 82326392 82326392 single base substitution A G intron_variant LIRI-JP 9 82326576 82326577 deletion of <=200bp GG - downstream_gene_variant LIRI-JP 9 82326576 82326577 deletion of <=200bp GG - intron_variant LIRI-JP 9 82326598 82326598 single base substitution C A downstream_gene_variant LIRI-JP 9 82326598 82326598 single base substitution C A intron_variant LIRI-JP 9 82327336 82327336 insertion of <=200bp - A downstream_gene_variant LIRI-JP 9 82327336 82327336 insertion of <=200bp - A intron_variant LIRI-JP 9 82327699 82327699 single base substitution C T downstream_gene_variant LIRI-JP 9 82327699 82327699 single base substitution C T intron_variant LIRI-JP 9 82328431 82328431 single base substitution C T downstream_gene_variant LIRI-JP 9 82328431 82328431 single base substitution C T intron_variant LIRI-JP 9 82329682 82329682 single base substitution C T intron_variant LIRI-JP 9 82329995 82329995 single base substitution C A intron_variant LIRI-JP 9 82330548 82330548 single base substitution C G intron_variant LIRI-JP 9 82333416 82333416 single base substitution T G intron_variant LIRI-JP 9 82334528 82334528 single base substitution G T downstream_gene_variant LIRI-JP 9 82334528 82334528 single base substitution G T intron_variant LIRI-JP 9 82336276 82336276 single base substitution G T downstream_gene_variant LIRI-JP 9 82336276 82336276 single base substitution G T intron_variant LIRI-JP 9 82336639 82336639 single base substitution C G downstream_gene_variant LIRI-JP 9 82336639 82336639 single base substitution C G intron_variant LIRI-JP 9 82337527 82337527 single base substitution A G downstream_gene_variant LIRI-JP 9 82337527 82337527 single base substitution A G intron_variant LIRI-JP 9 82338721 82338721 single base substitution C A downstream_gene_variant LIRI-JP 9 82338721 82338721 single base substitution C A intron_variant LIRI-JP 9 82338895 82338895 deletion of <=200bp G - downstream_gene_variant LIRI-JP 9 82338895 82338895 deletion of <=200bp G - intron_variant LIRI-JP 9 82339646 82339646 single base substitution C T downstream_gene_variant LIRI-JP 9 82339646 82339646 single base substitution C T intron_variant LIRI-JP 9 82340959 82340959 single base substitution C T 3_prime_UTR_variant LIRI-JP 9 82340959 82340959 single base substitution C T downstream_gene_variant LIRI-JP 9 82341313 82341313 single base substitution C T 3_prime_UTR_variant LIRI-JP 9 82341313 82341313 single base substitution C T downstream_gene_variant LIRI-JP 9 82342237 82342237 single base substitution A G downstream_gene_variant LIRI-JP 9 82343176 82343176 single base substitution T C downstream_gene_variant LIRI-JP 9 82343741 82343741 single base substitution C A downstream_gene_variant LIRI-JP 9 82344663 82344663 single base substitution C A downstream_gene_variant LIRI-JP 9 82344709 82344709 single base substitution C G downstream_gene_variant LIRI-JP 9 82345949 82345949 single base substitution C T downstream_gene_variant LIRI-JP 9 82346394 82346394 single base substitution G T downstream_gene_variant LUSC-KR 9 82182050 82182050 single base substitution G T upstream_gene_variant LUSC-KR 9 82185446 82185446 single base substitution C T upstream_gene_variant LUSC-KR 9 82186457 82186457 single base substitution C A upstream_gene_variant LUSC-KR 9 82187338 82187338 single base substitution G T 5_prime_UTR_variant LUSC-KR 9 82187338 82187338 single base substitution G T upstream_gene_variant LUSC-KR 9 82189985 82189985 single base substitution G T downstream_gene_variant LUSC-KR 9 82189985 82189985 single base substitution G T intron_variant LUSC-KR 9 82189985 82189985 single base substitution G T upstream_gene_variant LUSC-KR 9 82190206 82190206 single base substitution A G downstream_gene_variant LUSC-KR 9 82190206 82190206 single base substitution A G intron_variant LUSC-KR 9 82190206 82190206 single base substitution A G upstream_gene_variant LUSC-KR 9 82193796 82193796 single base substitution C A downstream_gene_variant LUSC-KR 9 82193796 82193796 single base substitution C A intron_variant LUSC-KR 9 82193796 82193796 single base substitution C A upstream_gene_variant LUSC-KR 9 82194251 82194251 single base substitution A C downstream_gene_variant LUSC-KR 9 82194251 82194251 single base substitution A C intron_variant LUSC-KR 9 82194251 82194251 single base substitution A C upstream_gene_variant LUSC-KR 9 82194597 82194597 single base substitution A G downstream_gene_variant LUSC-KR 9 82194597 82194597 single base substitution A G intron_variant LUSC-KR 9 82194597 82194597 single base substitution A G upstream_gene_variant LUSC-KR 9 82198450 82198450 single base substitution C T downstream_gene_variant LUSC-KR 9 82198450 82198450 single base substitution C T intron_variant LUSC-KR 9 82207086 82207086 single base substitution C T intron_variant LUSC-KR 9 82207157 82207157 single base substitution G T intron_variant LUSC-KR 9 82207208 82207208 single base substitution G T intron_variant LUSC-KR 9 82210175 82210175 single base substitution C T intron_variant LUSC-KR 9 82219726 82219726 single base substitution G T intron_variant LUSC-KR 9 82223317 82223317 single base substitution C G intron_variant LUSC-KR 9 82230262 82230262 single base substitution G T intron_variant LUSC-KR 9 82232824 82232824 single base substitution G T intron_variant LUSC-KR 9 82234932 82234932 single base substitution C G intron_variant LUSC-KR 9 82240186 82240186 single base substitution G A intron_variant LUSC-KR 9 82241417 82241417 single base substitution G C intron_variant LUSC-KR 9 82243739 82243739 single base substitution G A downstream_gene_variant LUSC-KR 9 82243739 82243739 single base substitution G A intron_variant LUSC-KR 9 82246923 82246923 single base substitution G T downstream_gene_variant LUSC-KR 9 82246923 82246923 single base substitution G T intron_variant LUSC-KR 9 82251980 82251980 single base substitution C T intron_variant LUSC-KR 9 82252445 82252445 single base substitution G C intron_variant LUSC-KR 9 82265620 82265620 single base substitution G T downstream_gene_variant LUSC-KR 9 82265620 82265620 single base substitution G T intron_variant LUSC-KR 9 82265620 82265620 single base substitution G T upstream_gene_variant LUSC-KR 9 82266929 82266929 single base substitution G A downstream_gene_variant LUSC-KR 9 82266929 82266929 single base substitution G A intron_variant LUSC-KR 9 82266929 82266929 single base substitution G A upstream_gene_variant LUSC-KR 9 82269824 82269824 single base substitution C G downstream_gene_variant LUSC-KR 9 82269824 82269824 single base substitution C G intron_variant LUSC-KR 9 82270931 82270931 single base substitution A C downstream_gene_variant LUSC-KR 9 82270931 82270931 single base substitution A C intron_variant LUSC-KR 9 82272204 82272204 single base substitution C T downstream_gene_variant LUSC-KR 9 82272204 82272204 single base substitution C T intron_variant LUSC-KR 9 82272702 82272702 single base substitution A T downstream_gene_variant LUSC-KR 9 82272702 82272702 single base substitution A T intron_variant LUSC-KR 9 82273215 82273215 single base substitution G T intron_variant LUSC-KR 9 82276204 82276204 single base substitution G T intron_variant LUSC-KR 9 82276204 82276204 single base substitution G T upstream_gene_variant LUSC-KR 9 82276205 82276205 single base substitution G T intron_variant LUSC-KR 9 82276205 82276205 single base substitution G T upstream_gene_variant LUSC-KR 9 82277773 82277773 single base substitution T C intron_variant LUSC-KR 9 82277773 82277773 single base substitution T C upstream_gene_variant LUSC-KR 9 82284925 82284925 single base substitution G T intron_variant LUSC-KR 9 82285333 82285333 single base substitution C T intron_variant LUSC-KR 9 82291829 82291829 single base substitution C G intron_variant LUSC-KR 9 82296779 82296779 single base substitution A G intron_variant LUSC-KR 9 82297865 82297865 single base substitution C G intron_variant LUSC-KR 9 82302538 82302538 single base substitution T C intron_variant LUSC-KR 9 82306964 82306964 single base substitution G C intron_variant LUSC-KR 9 82311106 82311106 single base substitution T C intron_variant LUSC-KR 9 82311212 82311212 single base substitution A G intron_variant LUSC-KR 9 82313320 82313320 single base substitution T C intron_variant LUSC-KR 9 82315139 82315139 single base substitution A G intron_variant LUSC-KR 9 82315139 82315139 single base substitution A G upstream_gene_variant LUSC-KR 9 82315478 82315478 single base substitution G A intron_variant LUSC-KR 9 82315478 82315478 single base substitution G A upstream_gene_variant LUSC-KR 9 82320048 82320048 single base substitution G T intron_variant LUSC-KR 9 82320048 82320048 single base substitution G T upstream_gene_variant LUSC-KR 9 82320447 82320447 single base substitution A G intron_variant LUSC-KR 9 82320447 82320447 single base substitution A G upstream_gene_variant LUSC-KR 9 82321610 82321610 single base substitution A T intron_variant LUSC-KR 9 82321610 82321610 single base substitution A T upstream_gene_variant LUSC-KR 9 82322576 82322576 single base substitution G T intron_variant LUSC-KR 9 82322576 82322576 single base substitution G T upstream_gene_variant LUSC-KR 9 82323904 82323904 single base substitution G T downstream_gene_variant LUSC-KR 9 82323904 82323904 single base substitution G T intron_variant LUSC-KR 9 82327167 82327167 single base substitution G T downstream_gene_variant LUSC-KR 9 82327167 82327167 single base substitution G T intron_variant LUSC-KR 9 82333549 82333549 single base substitution G T intron_variant LUSC-KR 9 82336789 82336789 single base substitution G T 3_prime_UTR_variant LUSC-KR 9 82336789 82336789 single base substitution G T downstream_gene_variant LUSC-KR 9 82336789 82336789 single base substitution G T intron_variant LUSC-KR 9 82336789 82336789 single base substitution G T missense_variant D295Y 883G>T LUSC-KR 9 82336789 82336789 single base substitution G T missense_variant D589Y 1765G>T LUSC-KR 9 82336789 82336789 single base substitution G T missense_variant D633Y 1897G>T LUSC-KR 9 82336789 82336789 single base substitution G T missense_variant D658Y 1972G>T LUSC-KR 9 82336789 82336789 single base substitution G T missense_variant D690Y 2068G>T LUSC-KR 9 82339356 82339356 single base substitution G A downstream_gene_variant LUSC-KR 9 82339356 82339356 single base substitution G A intron_variant LUSC-KR 9 82339430 82339430 single base substitution G T downstream_gene_variant LUSC-KR 9 82339430 82339430 single base substitution G T intron_variant LUSC-KR 9 82339991 82339991 single base substitution G T 3_prime_UTR_variant LUSC-KR 9 82339991 82339991 single base substitution G T downstream_gene_variant LUSC-KR 9 82339991 82339991 single base substitution G T missense_variant V389L 1165G>T LUSC-KR 9 82339991 82339991 single base substitution G T missense_variant V683L 2047G>T LUSC-KR 9 82339991 82339991 single base substitution G T missense_variant V727L 2179G>T LUSC-KR 9 82339991 82339991 single base substitution G T missense_variant V752L 2254G>T LUSC-KR 9 82339991 82339991 single base substitution G T missense_variant V784L 2350G>T LUSC-KR 9 82345694 82345694 single base substitution G A downstream_gene_variant LUSC-US 9 82320816 82320816 single base substitution G T 3_prime_UTR_variant LUSC-US 9 82320816 82320816 single base substitution G T 5_prime_UTR_variant LUSC-US 9 82320816 82320816 single base substitution G T exon_variant LUSC-US 9 82320816 82320816 single base substitution G T intron_variant LUSC-US 9 82320816 82320816 single base substitution G T stop_gained E118* 352G>T LUSC-US 9 82320816 82320816 single base substitution G T stop_gained E223* 667G>T LUSC-US 9 82320816 82320816 single base substitution G T stop_gained E233* 697G>T LUSC-US 9 82320816 82320816 single base substitution G T stop_gained E248* 742G>T LUSC-US 9 82320816 82320816 single base substitution G T stop_gained E38* 112G>T LUSC-US 9 82320816 82320816 single base substitution G T upstream_gene_variant LUSC-US 9 82323125 82323125 single base substitution G A 3_prime_UTR_variant LUSC-US 9 82323125 82323125 single base substitution G A 5_prime_UTR_variant LUSC-US 9 82323125 82323125 single base substitution G A downstream_gene_variant LUSC-US 9 82323125 82323125 single base substitution G A exon_variant LUSC-US 9 82323125 82323125 single base substitution G A synonymous_variant L107L 321G>A LUSC-US 9 82323125 82323125 single base substitution G A synonymous_variant L133L 399G>A LUSC-US 9 82323125 82323125 single base substitution G A synonymous_variant L162L 486G>A LUSC-US 9 82323125 82323125 single base substitution G A synonymous_variant L274L 822G>A LUSC-US 9 82323125 82323125 single base substitution G A synonymous_variant L309L 927G>A LUSC-US 9 82323125 82323125 single base substitution G A synonymous_variant L318L 954G>A LUSC-US 9 82323125 82323125 single base substitution G A synonymous_variant L343L 1029G>A LUSC-US 9 82323125 82323125 single base substitution G A synonymous_variant L375L 1125G>A LUSC-US 9 82323125 82323125 single base substitution G A synonymous_variant L71L 213G>A LUSC-US 9 82323125 82323125 single base substitution G A upstream_gene_variant LUSC-US 9 82323695 82323695 single base substitution A T 3_prime_UTR_variant LUSC-US 9 82323695 82323695 single base substitution A T downstream_gene_variant LUSC-US 9 82323695 82323695 single base substitution A T exon_variant LUSC-US 9 82323695 82323695 single base substitution A T synonymous_variant S147S 441A>T LUSC-US 9 82323695 82323695 single base substitution A T synonymous_variant S183S 549A>T LUSC-US 9 82323695 82323695 single base substitution A T synonymous_variant S209S 627A>T LUSC-US 9 82323695 82323695 single base substitution A T synonymous_variant S238S 714A>T LUSC-US 9 82323695 82323695 single base substitution A T synonymous_variant S350S 1050A>T LUSC-US 9 82323695 82323695 single base substitution A T synonymous_variant S394S 1182A>T LUSC-US 9 82323695 82323695 single base substitution A T synonymous_variant S419S 1257A>T LUSC-US 9 82323695 82323695 single base substitution A T synonymous_variant S451S 1353A>T LUSC-US 9 82323695 82323695 single base substitution A T synonymous_variant S56S 168A>T MALY-DE 9 82186842 82186842 single base substitution T G 5_prime_UTR_premature_start_codon_gain_variant MALY-DE 9 82186842 82186842 single base substitution T G upstream_gene_variant MALY-DE 9 82188598 82188598 single base substitution C G exon_variant MALY-DE 9 82188598 82188598 single base substitution C G splice_region_variant MALY-DE 9 82188598 82188598 single base substitution C G upstream_gene_variant MALY-DE 9 82188598 82188598 single base substitution C T exon_variant MALY-DE 9 82188598 82188598 single base substitution C T splice_region_variant MALY-DE 9 82188598 82188598 single base substitution C T upstream_gene_variant MALY-DE 9 82188871 82188871 single base substitution G A exon_variant MALY-DE 9 82188871 82188871 single base substitution G A intron_variant MALY-DE 9 82188871 82188871 single base substitution G A upstream_gene_variant MALY-DE 9 82190508 82190508 single base substitution A C downstream_gene_variant MALY-DE 9 82190508 82190508 single base substitution A C intron_variant MALY-DE 9 82190508 82190508 single base substitution A C upstream_gene_variant MALY-DE 9 82191857 82191858 deletion of <=200bp TA - downstream_gene_variant MALY-DE 9 82191857 82191858 deletion of <=200bp TA - intron_variant MALY-DE 9 82191857 82191858 deletion of <=200bp TA - upstream_gene_variant MALY-DE 9 82192921 82192921 single base substitution A G downstream_gene_variant MALY-DE 9 82192921 82192921 single base substitution A G intron_variant MALY-DE 9 82192921 82192921 single base substitution A G upstream_gene_variant MALY-DE 9 82194596 82194596 insertion of <=200bp - TA downstream_gene_variant MALY-DE 9 82194596 82194596 insertion of <=200bp - TA intron_variant MALY-DE 9 82194596 82194596 insertion of <=200bp - TA upstream_gene_variant MALY-DE 9 82197349 82197349 single base substitution T C downstream_gene_variant MALY-DE 9 82197349 82197349 single base substitution T C intron_variant MALY-DE 9 82198993 82198993 single base substitution G A downstream_gene_variant MALY-DE 9 82198993 82198993 single base substitution G A intron_variant MALY-DE 9 82200627 82200627 single base substitution T C intron_variant MALY-DE 9 82203051 82203052 deletion of <=200bp GT - intron_variant MALY-DE 9 82205079 82205079 insertion of <=200bp - C intron_variant MALY-DE 9 82207566 82207566 single base substitution A T intron_variant MALY-DE 9 82208225 82208225 single base substitution G A intron_variant MALY-DE 9 82215188 82215191 deletion of <=200bp AAAC - intron_variant MALY-DE 9 82223102 82223102 single base substitution A T intron_variant MALY-DE 9 82228480 82228480 single base substitution G A intron_variant MALY-DE 9 82238274 82238274 single base substitution T C intron_variant MALY-DE 9 82243789 82243790 deletion of <=200bp GT - downstream_gene_variant MALY-DE 9 82243789 82243790 deletion of <=200bp GT - intron_variant MALY-DE 9 82249964 82249964 single base substitution T C intron_variant MALY-DE 9 82249982 82249982 single base substitution C G intron_variant MALY-DE 9 82252928 82252928 insertion of <=200bp - A intron_variant MALY-DE 9 82253399 82253399 single base substitution T G intron_variant MALY-DE 9 82254346 82254346 single base substitution T A intron_variant MALY-DE 9 82255407 82255407 single base substitution A G intron_variant MALY-DE 9 82261000 82261000 single base substitution A T intron_variant MALY-DE 9 82270344 82270344 single base substitution G A downstream_gene_variant MALY-DE 9 82270344 82270344 single base substitution G A intron_variant MALY-DE 9 82270378 82270378 single base substitution C T downstream_gene_variant MALY-DE 9 82270378 82270378 single base substitution C T intron_variant MALY-DE 9 82270390 82270390 single base substitution A G downstream_gene_variant MALY-DE 9 82270390 82270390 single base substitution A G intron_variant MALY-DE 9 82272297 82272297 single base substitution T C downstream_gene_variant MALY-DE 9 82272297 82272297 single base substitution T C intron_variant MALY-DE 9 82285968 82285968 single base substitution T C intron_variant MALY-DE 9 82296844 82296844 single base substitution T A intron_variant MALY-DE 9 82323972 82323972 single base substitution T C downstream_gene_variant MALY-DE 9 82323972 82323972 single base substitution T C intron_variant MALY-DE 9 82329105 82329105 single base substitution C T downstream_gene_variant MALY-DE 9 82329105 82329105 single base substitution C T intron_variant MALY-DE 9 82336684 82336684 single base substitution A G 3_prime_UTR_variant MALY-DE 9 82336684 82336684 single base substitution A G downstream_gene_variant MALY-DE 9 82336684 82336684 single base substitution A G intron_variant MALY-DE 9 82336684 82336684 single base substitution A G missense_variant S260G 778A>G MALY-DE 9 82336684 82336684 single base substitution A G missense_variant S554G 1660A>G MALY-DE 9 82336684 82336684 single base substitution A G missense_variant S598G 1792A>G MALY-DE 9 82336684 82336684 single base substitution A G missense_variant S623G 1867A>G MALY-DE 9 82336684 82336684 single base substitution A G missense_variant S655G 1963A>G MALY-DE 9 82339995 82339995 single base substitution A G 3_prime_UTR_variant MALY-DE 9 82339995 82339995 single base substitution A G downstream_gene_variant MALY-DE 9 82339995 82339995 single base substitution A G missense_variant D390G 1169A>G MALY-DE 9 82339995 82339995 single base substitution A G missense_variant D684G 2051A>G MALY-DE 9 82339995 82339995 single base substitution A G missense_variant D728G 2183A>G MALY-DE 9 82339995 82339995 single base substitution A G missense_variant D753G 2258A>G MALY-DE 9 82339995 82339995 single base substitution A G missense_variant D785G 2354A>G MELA-AU 9 82181854 82181854 single base substitution C T upstream_gene_variant MELA-AU 9 82182007 82182007 single base substitution G C upstream_gene_variant MELA-AU 9 82182010 82182010 single base substitution T A upstream_gene_variant MELA-AU 9 82182140 82182140 single base substitution G A upstream_gene_variant MELA-AU 9 82182371 82182371 single base substitution T A upstream_gene_variant MELA-AU 9 82182385 82182385 single base substitution G A upstream_gene_variant MELA-AU 9 82182545 82182545 single base substitution A T upstream_gene_variant MELA-AU 9 82182821 82182821 single base substitution G A upstream_gene_variant MELA-AU 9 82182965 82182965 single base substitution A C upstream_gene_variant MELA-AU 9 82183017 82183017 single base substitution G A upstream_gene_variant MELA-AU 9 82183271 82183271 single base substitution C T upstream_gene_variant MELA-AU 9 82183285 82183285 single base substitution G A upstream_gene_variant MELA-AU 9 82183300 82183300 single base substitution C T upstream_gene_variant MELA-AU 9 82183636 82183636 single base substitution C T upstream_gene_variant MELA-AU 9 82183651 82183651 single base substitution T C upstream_gene_variant MELA-AU 9 82183957 82183957 single base substitution C T upstream_gene_variant MELA-AU 9 82184392 82184392 single base substitution G A upstream_gene_variant MELA-AU 9 82184425 82184425 single base substitution G A upstream_gene_variant MELA-AU 9 82184431 82184431 single base substitution G A upstream_gene_variant MELA-AU 9 82184505 82184505 single base substitution A T upstream_gene_variant MELA-AU 9 82185030 82185030 single base substitution G A upstream_gene_variant MELA-AU 9 82185053 82185053 single base substitution T C upstream_gene_variant MELA-AU 9 82185305 82185305 single base substitution C T upstream_gene_variant MELA-AU 9 82185985 82185985 single base substitution G A upstream_gene_variant MELA-AU 9 82186222 82186222 single base substitution G T upstream_gene_variant MELA-AU 9 82186485 82186485 single base substitution C T upstream_gene_variant MELA-AU 9 82186546 82186546 single base substitution C T upstream_gene_variant MELA-AU 9 82186551 82186551 single base substitution G A upstream_gene_variant MELA-AU 9 82186552 82186552 single base substitution G A upstream_gene_variant MELA-AU 9 82186553 82186553 single base substitution G A upstream_gene_variant MELA-AU 9 82186619 82186619 single base substitution G A upstream_gene_variant MELA-AU 9 82186624 82186624 single base substitution A G upstream_gene_variant MELA-AU 9 82186669 82186670 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 9 82186682 82186682 single base substitution G A upstream_gene_variant MELA-AU 9 82187089 82187089 single base substitution G A 5_prime_UTR_variant MELA-AU 9 82187089 82187089 single base substitution G A upstream_gene_variant MELA-AU 9 82187102 82187102 single base substitution G A 5_prime_UTR_variant MELA-AU 9 82187102 82187102 single base substitution G A upstream_gene_variant MELA-AU 9 82187214 82187214 single base substitution C T 5_prime_UTR_variant MELA-AU 9 82187214 82187214 single base substitution C T upstream_gene_variant MELA-AU 9 82188525 82188525 single base substitution C T exon_variant MELA-AU 9 82188525 82188525 single base substitution C T intron_variant MELA-AU 9 82188525 82188525 single base substitution C T upstream_gene_variant MELA-AU 9 82188545 82188545 single base substitution C T exon_variant MELA-AU 9 82188545 82188545 single base substitution C T intron_variant MELA-AU 9 82188545 82188545 single base substitution C T upstream_gene_variant MELA-AU 9 82189953 82189953 single base substitution C T downstream_gene_variant MELA-AU 9 82189953 82189953 single base substitution C T intron_variant MELA-AU 9 82189953 82189953 single base substitution C T upstream_gene_variant MELA-AU 9 82190085 82190085 single base substitution C T downstream_gene_variant MELA-AU 9 82190085 82190085 single base substitution C T intron_variant MELA-AU 9 82190085 82190085 single base substitution C T upstream_gene_variant MELA-AU 9 82190423 82190423 single base substitution C T downstream_gene_variant MELA-AU 9 82190423 82190423 single base substitution C T intron_variant MELA-AU 9 82190423 82190423 single base substitution C T upstream_gene_variant MELA-AU 9 82191250 82191250 single base substitution C T downstream_gene_variant MELA-AU 9 82191250 82191250 single base substitution C T intron_variant MELA-AU 9 82191250 82191250 single base substitution C T upstream_gene_variant MELA-AU 9 82191297 82191297 single base substitution T C downstream_gene_variant MELA-AU 9 82191297 82191297 single base substitution T C intron_variant MELA-AU 9 82191297 82191297 single base substitution T C upstream_gene_variant MELA-AU 9 82191654 82191654 single base substitution T G 3_prime_UTR_variant MELA-AU 9 82191654 82191654 single base substitution T G downstream_gene_variant MELA-AU 9 82191654 82191654 single base substitution T G intron_variant MELA-AU 9 82191654 82191654 single base substitution T G upstream_gene_variant MELA-AU 9 82192556 82192556 single base substitution C T downstream_gene_variant MELA-AU 9 82192556 82192556 single base substitution C T intron_variant MELA-AU 9 82192556 82192556 single base substitution C T upstream_gene_variant MELA-AU 9 82192670 82192670 single base substitution C T downstream_gene_variant MELA-AU 9 82192670 82192670 single base substitution C T intron_variant MELA-AU 9 82192670 82192670 single base substitution C T upstream_gene_variant MELA-AU 9 82192797 82192797 single base substitution C T downstream_gene_variant MELA-AU 9 82192797 82192797 single base substitution C T intron_variant MELA-AU 9 82192797 82192797 single base substitution C T upstream_gene_variant MELA-AU 9 82192904 82192904 single base substitution C T downstream_gene_variant MELA-AU 9 82192904 82192904 single base substitution C T intron_variant MELA-AU 9 82192904 82192904 single base substitution C T upstream_gene_variant MELA-AU 9 82193215 82193215 single base substitution C T downstream_gene_variant MELA-AU 9 82193215 82193215 single base substitution C T intron_variant MELA-AU 9 82193215 82193215 single base substitution C T upstream_gene_variant MELA-AU 9 82193246 82193246 single base substitution C T downstream_gene_variant MELA-AU 9 82193246 82193246 single base substitution C T intron_variant MELA-AU 9 82193246 82193246 single base substitution C T upstream_gene_variant MELA-AU 9 82194043 82194043 single base substitution G A downstream_gene_variant MELA-AU 9 82194043 82194043 single base substitution G A intron_variant MELA-AU 9 82194043 82194043 single base substitution G A upstream_gene_variant MELA-AU 9 82194427 82194427 single base substitution C T downstream_gene_variant MELA-AU 9 82194427 82194427 single base substitution C T intron_variant MELA-AU 9 82194427 82194427 single base substitution C T upstream_gene_variant MELA-AU 9 82194865 82194865 single base substitution C T downstream_gene_variant MELA-AU 9 82194865 82194865 single base substitution C T intron_variant MELA-AU 9 82194865 82194865 single base substitution C T upstream_gene_variant MELA-AU 9 82195507 82195507 single base substitution A G downstream_gene_variant MELA-AU 9 82195507 82195507 single base substitution A G intron_variant MELA-AU 9 82195829 82195829 single base substitution T C downstream_gene_variant MELA-AU 9 82195829 82195829 single base substitution T C intron_variant MELA-AU 9 82196212 82196212 single base substitution T A downstream_gene_variant MELA-AU 9 82196212 82196212 single base substitution T A intron_variant MELA-AU 9 82196512 82196512 single base substitution C T downstream_gene_variant MELA-AU 9 82196512 82196512 single base substitution C T intron_variant MELA-AU 9 82196541 82196541 single base substitution G A downstream_gene_variant MELA-AU 9 82196541 82196541 single base substitution G A intron_variant MELA-AU 9 82197704 82197704 single base substitution A T downstream_gene_variant MELA-AU 9 82197704 82197704 single base substitution A T intron_variant MELA-AU 9 82198019 82198019 single base substitution G A downstream_gene_variant MELA-AU 9 82198019 82198019 single base substitution G A intron_variant MELA-AU 9 82198024 82198024 single base substitution G A downstream_gene_variant MELA-AU 9 82198024 82198024 single base substitution G A intron_variant MELA-AU 9 82198271 82198271 single base substitution C T downstream_gene_variant MELA-AU 9 82198271 82198271 single base substitution C T intron_variant MELA-AU 9 82198534 82198534 single base substitution T C downstream_gene_variant MELA-AU 9 82198534 82198534 single base substitution T C intron_variant MELA-AU 9 82198592 82198592 single base substitution G A downstream_gene_variant MELA-AU 9 82198592 82198592 single base substitution G A intron_variant MELA-AU 9 82199935 82199935 single base substitution C T downstream_gene_variant MELA-AU 9 82199935 82199935 single base substitution C T intron_variant MELA-AU 9 82200019 82200019 single base substitution G A downstream_gene_variant MELA-AU 9 82200019 82200019 single base substitution G A intron_variant MELA-AU 9 82200266 82200266 single base substitution T C intron_variant MELA-AU 9 82200622 82200622 single base substitution C T intron_variant MELA-AU 9 82200637 82200637 single base substitution C T intron_variant MELA-AU 9 82200965 82200965 single base substitution T C intron_variant MELA-AU 9 82201414 82201414 single base substitution T C intron_variant MELA-AU 9 82201549 82201549 single base substitution C T intron_variant MELA-AU 9 82202082 82202082 single base substitution G A intron_variant MELA-AU 9 82202858 82202858 single base substitution T A intron_variant MELA-AU 9 82203542 82203542 single base substitution G A intron_variant MELA-AU 9 82203765 82203765 single base substitution T G intron_variant MELA-AU 9 82203881 82203881 single base substitution C T intron_variant MELA-AU 9 82204156 82204156 single base substitution C T intron_variant MELA-AU 9 82204180 82204180 single base substitution C T intron_variant MELA-AU 9 82204207 82204207 single base substitution C T intron_variant MELA-AU 9 82206129 82206129 single base substitution C G intron_variant MELA-AU 9 82207030 82207030 single base substitution T A intron_variant MELA-AU 9 82207121 82207121 single base substitution C A intron_variant MELA-AU 9 82207150 82207150 single base substitution T A intron_variant MELA-AU 9 82207203 82207203 single base substitution T C intron_variant MELA-AU 9 82207450 82207450 single base substitution C T intron_variant MELA-AU 9 82207634 82207634 single base substitution A T intron_variant MELA-AU 9 82207660 82207660 single base substitution C T intron_variant MELA-AU 9 82207684 82207684 single base substitution C T intron_variant MELA-AU 9 82207763 82207763 single base substitution C T intron_variant MELA-AU 9 82208113 82208113 single base substitution C T intron_variant MELA-AU 9 82208430 82208430 single base substitution C T intron_variant MELA-AU 9 82208809 82208809 single base substitution C T intron_variant MELA-AU 9 82209374 82209374 single base substitution C G intron_variant MELA-AU 9 82209556 82209556 single base substitution G A intron_variant MELA-AU 9 82209570 82209570 single base substitution C T intron_variant MELA-AU 9 82210328 82210328 single base substitution C T intron_variant MELA-AU 9 82210825 82210825 single base substitution G A intron_variant MELA-AU 9 82210982 82210982 single base substitution C T intron_variant MELA-AU 9 82211190 82211190 single base substitution C T intron_variant MELA-AU 9 82211376 82211376 single base substitution G T intron_variant MELA-AU 9 82211392 82211392 single base substitution C A intron_variant MELA-AU 9 82211392 82211392 single base substitution C T intron_variant MELA-AU 9 82211488 82211488 single base substitution T A intron_variant MELA-AU 9 82211841 82211841 single base substitution C T intron_variant MELA-AU 9 82212021 82212021 single base substitution C T intron_variant MELA-AU 9 82212108 82212109 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 82212283 82212283 single base substitution G A intron_variant MELA-AU 9 82212494 82212494 single base substitution C T intron_variant MELA-AU 9 82212748 82212748 single base substitution G A intron_variant MELA-AU 9 82212895 82212895 single base substitution C T intron_variant MELA-AU 9 82212935 82212935 single base substitution C T intron_variant MELA-AU 9 82213118 82213118 single base substitution C T intron_variant MELA-AU 9 82213190 82213190 single base substitution A T intron_variant MELA-AU 9 82213389 82213389 single base substitution C T intron_variant MELA-AU 9 82213659 82213659 single base substitution C T intron_variant MELA-AU 9 82213867 82213867 single base substitution G A intron_variant MELA-AU 9 82213873 82213873 single base substitution C T intron_variant MELA-AU 9 82214232 82214232 single base substitution T G intron_variant MELA-AU 9 82214326 82214326 single base substitution C T intron_variant MELA-AU 9 82214457 82214457 single base substitution G A intron_variant MELA-AU 9 82214711 82214711 single base substitution C T intron_variant MELA-AU 9 82215250 82215250 single base substitution G A intron_variant MELA-AU 9 82215539 82215539 single base substitution C T intron_variant MELA-AU 9 82215664 82215664 single base substitution A G intron_variant MELA-AU 9 82215812 82215812 single base substitution C T intron_variant MELA-AU 9 82215847 82215847 single base substitution C T intron_variant MELA-AU 9 82216007 82216007 single base substitution C T intron_variant MELA-AU 9 82216597 82216597 single base substitution C T intron_variant MELA-AU 9 82216719 82216719 single base substitution C T intron_variant MELA-AU 9 82216848 82216848 single base substitution G A intron_variant MELA-AU 9 82216864 82216864 single base substitution C A intron_variant MELA-AU 9 82217415 82217415 single base substitution A C intron_variant MELA-AU 9 82217646 82217646 single base substitution C G intron_variant MELA-AU 9 82217742 82217742 single base substitution A G intron_variant MELA-AU 9 82217745 82217745 single base substitution C T intron_variant MELA-AU 9 82217895 82217895 single base substitution G A intron_variant MELA-AU 9 82218587 82218587 single base substitution G A intron_variant MELA-AU 9 82220193 82220193 single base substitution C T intron_variant MELA-AU 9 82220204 82220204 single base substitution C T intron_variant MELA-AU 9 82220649 82220649 single base substitution C T intron_variant MELA-AU 9 82221528 82221528 single base substitution G T intron_variant MELA-AU 9 82222443 82222443 single base substitution C T intron_variant MELA-AU 9 82222485 82222485 single base substitution C T intron_variant MELA-AU 9 82222520 82222520 single base substitution C T intron_variant MELA-AU 9 82222975 82222975 single base substitution T C intron_variant MELA-AU 9 82223069 82223069 deletion of <=200bp A - intron_variant MELA-AU 9 82223164 82223164 single base substitution G A intron_variant MELA-AU 9 82223834 82223834 single base substitution A T intron_variant MELA-AU 9 82224135 82224135 single base substitution C T intron_variant MELA-AU 9 82224971 82224971 single base substitution C T intron_variant MELA-AU 9 82225193 82225193 single base substitution C T intron_variant MELA-AU 9 82225797 82225797 single base substitution C T intron_variant MELA-AU 9 82225888 82225888 single base substitution T C intron_variant MELA-AU 9 82225925 82225926 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 9 82225950 82225950 single base substitution C T intron_variant MELA-AU 9 82226082 82226082 single base substitution C T intron_variant MELA-AU 9 82226088 82226088 single base substitution G A intron_variant MELA-AU 9 82226247 82226247 single base substitution C T intron_variant MELA-AU 9 82227037 82227037 single base substitution C T intron_variant MELA-AU 9 82228345 82228345 single base substitution C T intron_variant MELA-AU 9 82228739 82228739 single base substitution T C intron_variant MELA-AU 9 82228784 82228784 single base substitution G A intron_variant MELA-AU 9 82229160 82229160 single base substitution C T intron_variant MELA-AU 9 82229257 82229257 single base substitution A T intron_variant MELA-AU 9 82229710 82229710 single base substitution C T intron_variant MELA-AU 9 82229734 82229734 single base substitution C T intron_variant MELA-AU 9 82229741 82229741 single base substitution C T intron_variant MELA-AU 9 82229796 82229796 single base substitution C T intron_variant MELA-AU 9 82229897 82229897 single base substitution T C intron_variant MELA-AU 9 82230065 82230065 single base substitution C T intron_variant MELA-AU 9 82230299 82230299 single base substitution T C intron_variant MELA-AU 9 82230356 82230356 single base substitution C T intron_variant MELA-AU 9 82230623 82230623 single base substitution T A intron_variant MELA-AU 9 82230699 82230699 single base substitution C T intron_variant MELA-AU 9 82231023 82231023 single base substitution C T intron_variant MELA-AU 9 82231491 82231491 single base substitution G A intron_variant MELA-AU 9 82231547 82231547 single base substitution C A intron_variant MELA-AU 9 82231593 82231593 single base substitution G A intron_variant MELA-AU 9 82232255 82232255 single base substitution G A intron_variant MELA-AU 9 82232287 82232287 single base substitution C T intron_variant MELA-AU 9 82232367 82232367 single base substitution C T intron_variant MELA-AU 9 82232476 82232476 single base substitution G A intron_variant MELA-AU 9 82232999 82232999 single base substitution T C intron_variant MELA-AU 9 82233030 82233030 single base substitution C T intron_variant MELA-AU 9 82233110 82233110 single base substitution G A intron_variant MELA-AU 9 82233161 82233161 single base substitution G A intron_variant MELA-AU 9 82233790 82233790 single base substitution A T intron_variant MELA-AU 9 82233865 82233865 single base substitution C T intron_variant MELA-AU 9 82233897 82233897 single base substitution G A intron_variant MELA-AU 9 82234517 82234517 single base substitution C T intron_variant MELA-AU 9 82234554 82234554 single base substitution C T intron_variant MELA-AU 9 82234699 82234699 single base substitution G A intron_variant MELA-AU 9 82234826 82234826 single base substitution C T intron_variant MELA-AU 9 82234929 82234929 single base substitution C T intron_variant MELA-AU 9 82235236 82235236 single base substitution C T intron_variant MELA-AU 9 82235308 82235308 single base substitution C T intron_variant MELA-AU 9 82235345 82235345 single base substitution C T intron_variant MELA-AU 9 82235773 82235773 single base substitution G A intron_variant MELA-AU 9 82235844 82235844 single base substitution C T intron_variant MELA-AU 9 82235961 82235961 single base substitution C T intron_variant MELA-AU 9 82236917 82236917 single base substitution C T intron_variant MELA-AU 9 82236983 82236983 single base substitution C T intron_variant MELA-AU 9 82237161 82237161 single base substitution C T intron_variant MELA-AU 9 82237326 82237326 single base substitution G A intron_variant MELA-AU 9 82237327 82237327 single base substitution G A intron_variant MELA-AU 9 82237912 82237912 single base substitution T C intron_variant MELA-AU 9 82238223 82238223 single base substitution C T intron_variant MELA-AU 9 82238311 82238311 single base substitution T C intron_variant MELA-AU 9 82238425 82238425 single base substitution A T intron_variant MELA-AU 9 82238539 82238539 single base substitution C T intron_variant MELA-AU 9 82239146 82239146 single base substitution C T intron_variant MELA-AU 9 82240346 82240346 single base substitution G A intron_variant MELA-AU 9 82240485 82240485 single base substitution T A intron_variant MELA-AU 9 82241049 82241049 single base substitution C T intron_variant MELA-AU 9 82241542 82241542 single base substitution C T intron_variant MELA-AU 9 82242082 82242082 single base substitution T C intron_variant MELA-AU 9 82242090 82242090 single base substitution C T intron_variant MELA-AU 9 82242442 82242442 single base substitution C T downstream_gene_variant MELA-AU 9 82242442 82242442 single base substitution C T exon_variant MELA-AU 9 82242442 82242442 single base substitution C T intron_variant MELA-AU 9 82242694 82242695 multiple base substitution (>=2bp and <=200bp) AT TC downstream_gene_variant MELA-AU 9 82242694 82242695 multiple base substitution (>=2bp and <=200bp) AT TC intron_variant MELA-AU 9 82242797 82242797 single base substitution C T downstream_gene_variant MELA-AU 9 82242797 82242797 single base substitution C T intron_variant MELA-AU 9 82242957 82242957 single base substitution G A downstream_gene_variant MELA-AU 9 82242957 82242957 single base substitution G A intron_variant MELA-AU 9 82242963 82242963 single base substitution G A downstream_gene_variant MELA-AU 9 82242963 82242963 single base substitution G A intron_variant MELA-AU 9 82243141 82243141 single base substitution T C downstream_gene_variant MELA-AU 9 82243141 82243141 single base substitution T C intron_variant MELA-AU 9 82243279 82243279 single base substitution C T downstream_gene_variant MELA-AU 9 82243279 82243279 single base substitution C T intron_variant MELA-AU 9 82243680 82243680 single base substitution G A downstream_gene_variant MELA-AU 9 82243680 82243680 single base substitution G A intron_variant MELA-AU 9 82243720 82243720 single base substitution C T downstream_gene_variant MELA-AU 9 82243720 82243720 single base substitution C T intron_variant MELA-AU 9 82244134 82244134 single base substitution C T downstream_gene_variant MELA-AU 9 82244134 82244134 single base substitution C T intron_variant MELA-AU 9 82244677 82244677 single base substitution G A downstream_gene_variant MELA-AU 9 82244677 82244677 single base substitution G A intron_variant MELA-AU 9 82245194 82245194 single base substitution C T downstream_gene_variant MELA-AU 9 82245194 82245194 single base substitution C T intron_variant MELA-AU 9 82245241 82245241 deletion of <=200bp T - downstream_gene_variant MELA-AU 9 82245241 82245241 deletion of <=200bp T - intron_variant MELA-AU 9 82245789 82245789 single base substitution T A downstream_gene_variant MELA-AU 9 82245789 82245789 single base substitution T A intron_variant MELA-AU 9 82245876 82245876 single base substitution T C downstream_gene_variant MELA-AU 9 82245876 82245876 single base substitution T C intron_variant MELA-AU 9 82246275 82246275 single base substitution G A downstream_gene_variant MELA-AU 9 82246275 82246275 single base substitution G A intron_variant MELA-AU 9 82246811 82246811 single base substitution C T downstream_gene_variant MELA-AU 9 82246811 82246811 single base substitution C T intron_variant MELA-AU 9 82246920 82246920 single base substitution C T downstream_gene_variant MELA-AU 9 82246920 82246920 single base substitution C T intron_variant MELA-AU 9 82247237 82247237 single base substitution G A downstream_gene_variant MELA-AU 9 82247237 82247237 single base substitution G A intron_variant MELA-AU 9 82247645 82247645 single base substitution C T downstream_gene_variant MELA-AU 9 82247645 82247645 single base substitution C T intron_variant MELA-AU 9 82247679 82247679 single base substitution G A intron_variant MELA-AU 9 82248335 82248335 single base substitution C T intron_variant MELA-AU 9 82248889 82248889 single base substitution G A intron_variant MELA-AU 9 82248955 82248955 single base substitution T C intron_variant MELA-AU 9 82249200 82249200 single base substitution T A intron_variant MELA-AU 9 82249804 82249804 single base substitution C T intron_variant MELA-AU 9 82250065 82250065 single base substitution G A intron_variant MELA-AU 9 82250142 82250142 single base substitution G A intron_variant MELA-AU 9 82250181 82250181 single base substitution G A intron_variant MELA-AU 9 82250336 82250336 single base substitution C T intron_variant MELA-AU 9 82250343 82250343 single base substitution G A intron_variant MELA-AU 9 82250709 82250709 single base substitution C T intron_variant MELA-AU 9 82250761 82250761 single base substitution C T intron_variant MELA-AU 9 82250953 82250953 single base substitution C T intron_variant MELA-AU 9 82251247 82251247 single base substitution C T intron_variant MELA-AU 9 82251259 82251259 single base substitution C T intron_variant MELA-AU 9 82251326 82251326 single base substitution C T intron_variant MELA-AU 9 82251461 82251461 single base substitution C T intron_variant MELA-AU 9 82251484 82251484 single base substitution C T intron_variant MELA-AU 9 82251490 82251490 single base substitution C T intron_variant MELA-AU 9 82251855 82251855 single base substitution C T intron_variant MELA-AU 9 82251980 82251980 single base substitution C T intron_variant MELA-AU 9 82251983 82251983 single base substitution C T intron_variant MELA-AU 9 82252159 82252159 single base substitution C T intron_variant MELA-AU 9 82252908 82252908 single base substitution C T intron_variant MELA-AU 9 82253296 82253296 single base substitution C T intron_variant MELA-AU 9 82253589 82253589 single base substitution C T intron_variant MELA-AU 9 82253597 82253597 single base substitution C T intron_variant MELA-AU 9 82253598 82253598 single base substitution C T intron_variant MELA-AU 9 82253615 82253615 single base substitution T C intron_variant MELA-AU 9 82253852 82253852 single base substitution G A intron_variant MELA-AU 9 82254065 82254065 single base substitution G A intron_variant MELA-AU 9 82254135 82254136 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 82254477 82254477 single base substitution G C intron_variant MELA-AU 9 82254753 82254753 single base substitution G A intron_variant MELA-AU 9 82254927 82254927 single base substitution G A intron_variant MELA-AU 9 82255121 82255121 single base substitution A G intron_variant MELA-AU 9 82255389 82255389 single base substitution G T intron_variant MELA-AU 9 82255823 82255823 single base substitution C T intron_variant MELA-AU 9 82255962 82255962 single base substitution A G intron_variant MELA-AU 9 82256027 82256027 single base substitution T C intron_variant MELA-AU 9 82256513 82256513 single base substitution C T intron_variant MELA-AU 9 82256625 82256625 single base substitution G A intron_variant MELA-AU 9 82256723 82256723 single base substitution T G intron_variant MELA-AU 9 82256848 82256848 deletion of <=200bp A - intron_variant MELA-AU 9 82257444 82257444 single base substitution C T intron_variant MELA-AU 9 82257742 82257742 single base substitution C T intron_variant MELA-AU 9 82257758 82257758 single base substitution C T intron_variant MELA-AU 9 82257768 82257768 single base substitution G A intron_variant MELA-AU 9 82258034 82258034 single base substitution C T intron_variant MELA-AU 9 82258226 82258226 single base substitution C T intron_variant MELA-AU 9 82259408 82259408 single base substitution G A intron_variant MELA-AU 9 82259554 82259554 single base substitution C T intron_variant MELA-AU 9 82259732 82259732 single base substitution G A intron_variant MELA-AU 9 82260325 82260325 single base substitution C T intron_variant MELA-AU 9 82260390 82260390 single base substitution C T intron_variant MELA-AU 9 82260411 82260411 single base substitution G A intron_variant MELA-AU 9 82260977 82260977 single base substitution T A intron_variant MELA-AU 9 82261349 82261349 single base substitution C T intron_variant MELA-AU 9 82261701 82261701 single base substitution C T intron_variant MELA-AU 9 82261751 82261751 single base substitution C T intron_variant MELA-AU 9 82261773 82261773 single base substitution T A intron_variant MELA-AU 9 82262323 82262323 single base substitution G A intron_variant MELA-AU 9 82262585 82262585 single base substitution T C intron_variant MELA-AU 9 82262585 82262585 single base substitution T C upstream_gene_variant MELA-AU 9 82262604 82262604 single base substitution G A intron_variant MELA-AU 9 82262604 82262604 single base substitution G A upstream_gene_variant MELA-AU 9 82262834 82262834 single base substitution G A intron_variant MELA-AU 9 82262834 82262834 single base substitution G A upstream_gene_variant MELA-AU 9 82262969 82262969 single base substitution G A intron_variant MELA-AU 9 82262969 82262969 single base substitution G A upstream_gene_variant MELA-AU 9 82262981 82262981 single base substitution C T intron_variant MELA-AU 9 82262981 82262981 single base substitution C T upstream_gene_variant MELA-AU 9 82263079 82263079 single base substitution G A intron_variant MELA-AU 9 82263079 82263079 single base substitution G A upstream_gene_variant MELA-AU 9 82263264 82263264 single base substitution C T intron_variant MELA-AU 9 82263264 82263264 single base substitution C T upstream_gene_variant MELA-AU 9 82263721 82263721 single base substitution C T intron_variant MELA-AU 9 82263721 82263721 single base substitution C T upstream_gene_variant MELA-AU 9 82264123 82264124 multiple base substitution (>=2bp and <=200bp) GC TT intron_variant MELA-AU 9 82264123 82264124 multiple base substitution (>=2bp and <=200bp) GC TT upstream_gene_variant MELA-AU 9 82264382 82264382 single base substitution T G intron_variant MELA-AU 9 82264382 82264382 single base substitution T G upstream_gene_variant MELA-AU 9 82264469 82264469 single base substitution G A exon_variant MELA-AU 9 82264469 82264469 single base substitution G A intron_variant MELA-AU 9 82264469 82264469 single base substitution G A upstream_gene_variant MELA-AU 9 82264530 82264530 single base substitution C T exon_variant MELA-AU 9 82264530 82264530 single base substitution C T intron_variant MELA-AU 9 82264530 82264530 single base substitution C T upstream_gene_variant MELA-AU 9 82264728 82264728 single base substitution C T downstream_gene_variant MELA-AU 9 82264728 82264728 single base substitution C T intron_variant MELA-AU 9 82264728 82264728 single base substitution C T splice_region_variant MELA-AU 9 82264728 82264728 single base substitution C T upstream_gene_variant MELA-AU 9 82265678 82265678 single base substitution C T downstream_gene_variant MELA-AU 9 82265678 82265678 single base substitution C T intron_variant MELA-AU 9 82265678 82265678 single base substitution C T upstream_gene_variant MELA-AU 9 82265994 82265994 single base substitution C T downstream_gene_variant MELA-AU 9 82265994 82265994 single base substitution C T intron_variant MELA-AU 9 82265994 82265994 single base substitution C T upstream_gene_variant MELA-AU 9 82266551 82266551 single base substitution C T downstream_gene_variant MELA-AU 9 82266551 82266551 single base substitution C T intron_variant MELA-AU 9 82266551 82266551 single base substitution C T upstream_gene_variant MELA-AU 9 82266655 82266655 single base substitution G A downstream_gene_variant MELA-AU 9 82266655 82266655 single base substitution G A intron_variant MELA-AU 9 82266655 82266655 single base substitution G A upstream_gene_variant MELA-AU 9 82267337 82267337 single base substitution C T downstream_gene_variant MELA-AU 9 82267337 82267337 single base substitution C T intron_variant MELA-AU 9 82267337 82267337 single base substitution C T upstream_gene_variant MELA-AU 9 82267551 82267551 single base substitution C T 3_prime_UTR_variant MELA-AU 9 82267551 82267551 single base substitution C T 5_prime_UTR_variant MELA-AU 9 82267551 82267551 single base substitution C T downstream_gene_variant MELA-AU 9 82267551 82267551 single base substitution C T exon_variant MELA-AU 9 82267551 82267551 single base substitution C T missense_variant P120L 359C>T MELA-AU 9 82267551 82267551 single base substitution C T missense_variant P130L 389C>T MELA-AU 9 82267551 82267551 single base substitution C T missense_variant P143L 428C>T MELA-AU 9 82267551 82267551 single base substitution C T missense_variant P145L 434C>T MELA-AU 9 82267551 82267551 single base substitution C T missense_variant P159L 476C>T MELA-AU 9 82267551 82267551 single base substitution C T missense_variant P15L 44C>T MELA-AU 9 82267551 82267551 single base substitution C T upstream_gene_variant MELA-AU 9 82267575 82267575 single base substitution C T 3_prime_UTR_variant MELA-AU 9 82267575 82267575 single base substitution C T 5_prime_UTR_variant MELA-AU 9 82267575 82267575 single base substitution C T downstream_gene_variant MELA-AU 9 82267575 82267575 single base substitution C T exon_variant MELA-AU 9 82267575 82267575 single base substitution C T missense_variant S128L 383C>T MELA-AU 9 82267575 82267575 single base substitution C T missense_variant S138L 413C>T MELA-AU 9 82267575 82267575 single base substitution C T missense_variant S151L 452C>T MELA-AU 9 82267575 82267575 single base substitution C T missense_variant S153L 458C>T MELA-AU 9 82267575 82267575 single base substitution C T missense_variant S167L 500C>T MELA-AU 9 82267575 82267575 single base substitution C T missense_variant S23L 68C>T MELA-AU 9 82267575 82267575 single base substitution C T upstream_gene_variant MELA-AU 9 82267598 82267598 single base substitution C T 3_prime_UTR_variant MELA-AU 9 82267598 82267598 single base substitution C T 5_prime_UTR_variant MELA-AU 9 82267598 82267598 single base substitution C T downstream_gene_variant MELA-AU 9 82267598 82267598 single base substitution C T exon_variant MELA-AU 9 82267598 82267598 single base substitution C T missense_variant P136S 406C>T MELA-AU 9 82267598 82267598 single base substitution C T missense_variant P146S 436C>T MELA-AU 9 82267598 82267598 single base substitution C T missense_variant P159S 475C>T MELA-AU 9 82267598 82267598 single base substitution C T missense_variant P161S 481C>T MELA-AU 9 82267598 82267598 single base substitution C T missense_variant P175S 523C>T MELA-AU 9 82267598 82267598 single base substitution C T missense_variant P31S 91C>T MELA-AU 9 82267598 82267598 single base substitution C T upstream_gene_variant MELA-AU 9 82267644 82267644 single base substitution T C 3_prime_UTR_variant MELA-AU 9 82267644 82267644 single base substitution T C 5_prime_UTR_variant MELA-AU 9 82267644 82267644 single base substitution T C downstream_gene_variant MELA-AU 9 82267644 82267644 single base substitution T C exon_variant MELA-AU 9 82267644 82267644 single base substitution T C missense_variant L151P 452T>C MELA-AU 9 82267644 82267644 single base substitution T C missense_variant L161P 482T>C MELA-AU 9 82267644 82267644 single base substitution T C missense_variant L174P 521T>C MELA-AU 9 82267644 82267644 single base substitution T C missense_variant L176P 527T>C MELA-AU 9 82267644 82267644 single base substitution T C missense_variant L190P 569T>C MELA-AU 9 82267644 82267644 single base substitution T C missense_variant L46P 137T>C MELA-AU 9 82267995 82267995 single base substitution C T downstream_gene_variant MELA-AU 9 82267995 82267995 single base substitution C T intron_variant MELA-AU 9 82268335 82268335 single base substitution C T downstream_gene_variant MELA-AU 9 82268335 82268335 single base substitution C T intron_variant MELA-AU 9 82268624 82268625 multiple base substitution (>=2bp and <=200bp) CC TA downstream_gene_variant MELA-AU 9 82268624 82268625 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 9 82269055 82269055 single base substitution T C downstream_gene_variant MELA-AU 9 82269055 82269055 single base substitution T C intron_variant MELA-AU 9 82269309 82269309 single base substitution G A downstream_gene_variant MELA-AU 9 82269309 82269309 single base substitution G A intron_variant MELA-AU 9 82269643 82269643 single base substitution G A downstream_gene_variant MELA-AU 9 82269643 82269643 single base substitution G A intron_variant MELA-AU 9 82269838 82269838 single base substitution C T downstream_gene_variant MELA-AU 9 82269838 82269838 single base substitution C T intron_variant MELA-AU 9 82270026 82270026 single base substitution C T downstream_gene_variant MELA-AU 9 82270026 82270026 single base substitution C T intron_variant MELA-AU 9 82270053 82270053 single base substitution C T downstream_gene_variant MELA-AU 9 82270053 82270053 single base substitution C T intron_variant MELA-AU 9 82270337 82270337 single base substitution C A downstream_gene_variant MELA-AU 9 82270337 82270337 single base substitution C A intron_variant MELA-AU 9 82270359 82270359 single base substitution G A downstream_gene_variant MELA-AU 9 82270359 82270359 single base substitution G A intron_variant MELA-AU 9 82270383 82270383 single base substitution G A downstream_gene_variant MELA-AU 9 82270383 82270383 single base substitution G A intron_variant MELA-AU 9 82270543 82270543 single base substitution C T downstream_gene_variant MELA-AU 9 82270543 82270543 single base substitution C T intron_variant MELA-AU 9 82271142 82271142 single base substitution C T downstream_gene_variant MELA-AU 9 82271142 82271142 single base substitution C T intron_variant MELA-AU 9 82271169 82271169 single base substitution A G downstream_gene_variant MELA-AU 9 82271169 82271169 single base substitution A G intron_variant MELA-AU 9 82271330 82271330 single base substitution C T downstream_gene_variant MELA-AU 9 82271330 82271330 single base substitution C T intron_variant MELA-AU 9 82271807 82271807 single base substitution C T downstream_gene_variant MELA-AU 9 82271807 82271807 single base substitution C T intron_variant MELA-AU 9 82272237 82272237 single base substitution C T downstream_gene_variant MELA-AU 9 82272237 82272237 single base substitution C T intron_variant MELA-AU 9 82272260 82272260 single base substitution T C downstream_gene_variant MELA-AU 9 82272260 82272260 single base substitution T C intron_variant MELA-AU 9 82272375 82272375 single base substitution C T downstream_gene_variant MELA-AU 9 82272375 82272375 single base substitution C T intron_variant MELA-AU 9 82273369 82273369 single base substitution T A intron_variant MELA-AU 9 82273369 82273369 single base substitution T A upstream_gene_variant MELA-AU 9 82273640 82273640 single base substitution G A intron_variant MELA-AU 9 82273640 82273640 single base substitution G A upstream_gene_variant MELA-AU 9 82273931 82273931 single base substitution C T intron_variant MELA-AU 9 82273931 82273931 single base substitution C T upstream_gene_variant MELA-AU 9 82274027 82274027 single base substitution C T intron_variant MELA-AU 9 82274027 82274027 single base substitution C T upstream_gene_variant MELA-AU 9 82274103 82274103 single base substitution C T intron_variant MELA-AU 9 82274103 82274103 single base substitution C T upstream_gene_variant MELA-AU 9 82274448 82274448 single base substitution G A intron_variant MELA-AU 9 82274448 82274448 single base substitution G A upstream_gene_variant MELA-AU 9 82274549 82274549 single base substitution C T intron_variant MELA-AU 9 82274549 82274549 single base substitution C T upstream_gene_variant MELA-AU 9 82274637 82274637 single base substitution G A intron_variant MELA-AU 9 82274637 82274637 single base substitution G A upstream_gene_variant MELA-AU 9 82274946 82274946 single base substitution C T intron_variant MELA-AU 9 82274946 82274946 single base substitution C T upstream_gene_variant MELA-AU 9 82275405 82275405 single base substitution C T intron_variant MELA-AU 9 82275405 82275405 single base substitution C T upstream_gene_variant MELA-AU 9 82275667 82275667 single base substitution A G intron_variant MELA-AU 9 82275667 82275667 single base substitution A G upstream_gene_variant MELA-AU 9 82275830 82275830 single base substitution G A intron_variant MELA-AU 9 82275830 82275830 single base substitution G A upstream_gene_variant MELA-AU 9 82276087 82276087 single base substitution C T intron_variant MELA-AU 9 82276087 82276087 single base substitution C T upstream_gene_variant MELA-AU 9 82276131 82276131 single base substitution C T intron_variant MELA-AU 9 82276131 82276131 single base substitution C T upstream_gene_variant MELA-AU 9 82276349 82276349 single base substitution C T intron_variant MELA-AU 9 82276349 82276349 single base substitution C T upstream_gene_variant MELA-AU 9 82276832 82276832 single base substitution C T intron_variant MELA-AU 9 82276832 82276832 single base substitution C T upstream_gene_variant MELA-AU 9 82276853 82276853 single base substitution C T intron_variant MELA-AU 9 82276853 82276853 single base substitution C T upstream_gene_variant MELA-AU 9 82277567 82277567 single base substitution C T intron_variant MELA-AU 9 82277567 82277567 single base substitution C T upstream_gene_variant MELA-AU 9 82278260 82278260 single base substitution G A intron_variant MELA-AU 9 82278260 82278260 single base substitution G A upstream_gene_variant MELA-AU 9 82278475 82278475 single base substitution C T exon_variant MELA-AU 9 82278475 82278475 single base substitution C T intron_variant MELA-AU 9 82278835 82278835 single base substitution G A intron_variant MELA-AU 9 82278846 82278846 single base substitution C T intron_variant MELA-AU 9 82279669 82279669 single base substitution A G intron_variant MELA-AU 9 82279935 82279935 single base substitution C T intron_variant MELA-AU 9 82279966 82279966 single base substitution C T intron_variant MELA-AU 9 82281045 82281045 single base substitution G A intron_variant MELA-AU 9 82281396 82281396 single base substitution C T intron_variant MELA-AU 9 82281916 82281916 single base substitution G A intron_variant MELA-AU 9 82281967 82281967 single base substitution C T intron_variant MELA-AU 9 82282089 82282089 single base substitution C T intron_variant MELA-AU 9 82282147 82282147 single base substitution C T intron_variant MELA-AU 9 82282190 82282190 single base substitution C T intron_variant MELA-AU 9 82282245 82282245 single base substitution G A intron_variant MELA-AU 9 82282289 82282289 single base substitution C T intron_variant MELA-AU 9 82282528 82282528 single base substitution C T intron_variant MELA-AU 9 82282638 82282638 single base substitution G A intron_variant MELA-AU 9 82282865 82282865 single base substitution C T intron_variant MELA-AU 9 82283286 82283286 single base substitution C A intron_variant MELA-AU 9 82283732 82283732 single base substitution G A intron_variant MELA-AU 9 82283933 82283933 single base substitution C T intron_variant MELA-AU 9 82283979 82283979 single base substitution C T intron_variant MELA-AU 9 82284359 82284359 single base substitution G A intron_variant MELA-AU 9 82284661 82284661 single base substitution C T intron_variant MELA-AU 9 82285029 82285029 single base substitution G A intron_variant MELA-AU 9 82285151 82285151 single base substitution G A intron_variant MELA-AU 9 82285949 82285949 single base substitution G A intron_variant MELA-AU 9 82286144 82286144 single base substitution A C 5_prime_UTR_variant MELA-AU 9 82286144 82286144 single base substitution A C exon_variant MELA-AU 9 82286144 82286144 single base substitution A C intron_variant MELA-AU 9 82286364 82286364 single base substitution C T exon_variant MELA-AU 9 82286364 82286364 single base substitution C T intron_variant MELA-AU 9 82286753 82286753 single base substitution C T downstream_gene_variant MELA-AU 9 82286753 82286753 single base substitution C T intron_variant MELA-AU 9 82286889 82286889 single base substitution T G downstream_gene_variant MELA-AU 9 82286889 82286889 single base substitution T G intron_variant MELA-AU 9 82288082 82288082 single base substitution G A downstream_gene_variant MELA-AU 9 82288082 82288082 single base substitution G A intron_variant MELA-AU 9 82288801 82288801 single base substitution C T downstream_gene_variant MELA-AU 9 82288801 82288801 single base substitution C T intron_variant MELA-AU 9 82288864 82288864 single base substitution C T downstream_gene_variant MELA-AU 9 82288864 82288864 single base substitution C T intron_variant MELA-AU 9 82288899 82288899 single base substitution G A downstream_gene_variant MELA-AU 9 82288899 82288899 single base substitution G A intron_variant MELA-AU 9 82289055 82289055 single base substitution A G downstream_gene_variant MELA-AU 9 82289055 82289055 single base substitution A G intron_variant MELA-AU 9 82289194 82289194 single base substitution A C downstream_gene_variant MELA-AU 9 82289194 82289194 single base substitution A C intron_variant MELA-AU 9 82289207 82289207 single base substitution C T downstream_gene_variant MELA-AU 9 82289207 82289207 single base substitution C T intron_variant MELA-AU 9 82289216 82289216 single base substitution C T downstream_gene_variant MELA-AU 9 82289216 82289216 single base substitution C T intron_variant MELA-AU 9 82289934 82289934 single base substitution G A downstream_gene_variant MELA-AU 9 82289934 82289934 single base substitution G A intron_variant MELA-AU 9 82290049 82290049 single base substitution C T downstream_gene_variant MELA-AU 9 82290049 82290049 single base substitution C T intron_variant MELA-AU 9 82290486 82290486 single base substitution A T downstream_gene_variant MELA-AU 9 82290486 82290486 single base substitution A T intron_variant MELA-AU 9 82290641 82290641 single base substitution T G downstream_gene_variant MELA-AU 9 82290641 82290641 single base substitution T G intron_variant MELA-AU 9 82290730 82290730 single base substitution C T downstream_gene_variant MELA-AU 9 82290730 82290730 single base substitution C T intron_variant MELA-AU 9 82291299 82291299 single base substitution C T downstream_gene_variant MELA-AU 9 82291299 82291299 single base substitution C T intron_variant MELA-AU 9 82291398 82291399 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 9 82291398 82291399 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 82291538 82291538 single base substitution G A intron_variant MELA-AU 9 82291807 82291807 single base substitution G A intron_variant MELA-AU 9 82291880 82291880 single base substitution C T intron_variant MELA-AU 9 82292533 82292534 multiple base substitution (>=2bp and <=200bp) TT AA intron_variant MELA-AU 9 82293357 82293357 single base substitution G A intron_variant MELA-AU 9 82293765 82293765 single base substitution C T intron_variant MELA-AU 9 82293876 82293876 single base substitution T G intron_variant MELA-AU 9 82294646 82294646 single base substitution A C intron_variant MELA-AU 9 82294971 82294971 single base substitution C T intron_variant MELA-AU 9 82294973 82294973 single base substitution C T intron_variant MELA-AU 9 82295282 82295282 single base substitution C T intron_variant MELA-AU 9 82295283 82295283 single base substitution C T intron_variant MELA-AU 9 82295492 82295492 single base substitution G A intron_variant MELA-AU 9 82295514 82295514 single base substitution C T intron_variant MELA-AU 9 82295525 82295525 single base substitution C G intron_variant MELA-AU 9 82295936 82295936 single base substitution C T intron_variant MELA-AU 9 82296526 82296526 single base substitution C T intron_variant MELA-AU 9 82296721 82296721 single base substitution G A intron_variant MELA-AU 9 82296779 82296779 single base substitution A G intron_variant MELA-AU 9 82297473 82297473 single base substitution G A intron_variant MELA-AU 9 82297650 82297650 single base substitution G A intron_variant MELA-AU 9 82297887 82297887 single base substitution C T intron_variant MELA-AU 9 82298256 82298256 single base substitution T A intron_variant MELA-AU 9 82298311 82298311 single base substitution G A intron_variant MELA-AU 9 82299021 82299021 single base substitution C T intron_variant MELA-AU 9 82299035 82299035 single base substitution T G intron_variant MELA-AU 9 82301157 82301157 single base substitution G A intron_variant MELA-AU 9 82301475 82301475 single base substitution G A intron_variant MELA-AU 9 82301989 82301989 single base substitution T A intron_variant MELA-AU 9 82302087 82302087 single base substitution C T intron_variant MELA-AU 9 82302381 82302381 single base substitution A G intron_variant MELA-AU 9 82302434 82302434 single base substitution A T intron_variant MELA-AU 9 82302492 82302492 single base substitution G A intron_variant MELA-AU 9 82302975 82302975 single base substitution C T intron_variant MELA-AU 9 82303229 82303229 single base substitution C T intron_variant MELA-AU 9 82303304 82303304 single base substitution C T intron_variant MELA-AU 9 82303309 82303309 single base substitution C T intron_variant MELA-AU 9 82303695 82303695 single base substitution T A intron_variant MELA-AU 9 82303753 82303753 single base substitution G T intron_variant MELA-AU 9 82304052 82304052 single base substitution C T intron_variant MELA-AU 9 82304581 82304581 single base substitution C T intron_variant MELA-AU 9 82304746 82304746 single base substitution C T intron_variant MELA-AU 9 82304858 82304858 single base substitution C T intron_variant MELA-AU 9 82304979 82304979 single base substitution C T intron_variant MELA-AU 9 82305224 82305224 single base substitution C T intron_variant MELA-AU 9 82305430 82305430 single base substitution C T intron_variant MELA-AU 9 82305627 82305627 single base substitution C T intron_variant MELA-AU 9 82305749 82305749 single base substitution C T intron_variant MELA-AU 9 82306488 82306488 single base substitution C T intron_variant MELA-AU 9 82307456 82307456 single base substitution C T intron_variant MELA-AU 9 82307796 82307796 single base substitution G A intron_variant MELA-AU 9 82308209 82308209 single base substitution C T intron_variant MELA-AU 9 82308892 82308892 single base substitution T A intron_variant MELA-AU 9 82309250 82309250 single base substitution G A intron_variant MELA-AU 9 82309307 82309307 single base substitution C T intron_variant MELA-AU 9 82310068 82310069 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 82310451 82310451 single base substitution C T intron_variant MELA-AU 9 82310722 82310722 single base substitution A T intron_variant MELA-AU 9 82310755 82310755 single base substitution G A intron_variant MELA-AU 9 82311518 82311518 single base substitution T C intron_variant MELA-AU 9 82311539 82311539 single base substitution C G intron_variant MELA-AU 9 82311743 82311743 single base substitution G A intron_variant MELA-AU 9 82311838 82311838 single base substitution C T intron_variant MELA-AU 9 82311979 82311979 single base substitution C T intron_variant MELA-AU 9 82312407 82312407 single base substitution A G intron_variant MELA-AU 9 82312423 82312423 single base substitution C T intron_variant MELA-AU 9 82312511 82312511 single base substitution G A intron_variant MELA-AU 9 82312721 82312721 single base substitution T C intron_variant MELA-AU 9 82313212 82313212 single base substitution C T intron_variant MELA-AU 9 82313810 82313810 single base substitution C T intron_variant MELA-AU 9 82313922 82313922 single base substitution C T intron_variant MELA-AU 9 82314156 82314156 single base substitution G A intron_variant MELA-AU 9 82314162 82314162 single base substitution G A intron_variant MELA-AU 9 82314719 82314719 single base substitution G A intron_variant MELA-AU 9 82314719 82314719 single base substitution G A upstream_gene_variant MELA-AU 9 82314730 82314730 single base substitution T G intron_variant MELA-AU 9 82314730 82314730 single base substitution T G upstream_gene_variant MELA-AU 9 82315478 82315478 single base substitution G A intron_variant MELA-AU 9 82315478 82315478 single base substitution G A upstream_gene_variant MELA-AU 9 82315715 82315715 single base substitution C T intron_variant MELA-AU 9 82315715 82315715 single base substitution C T upstream_gene_variant MELA-AU 9 82316028 82316028 single base substitution T A intron_variant MELA-AU 9 82316028 82316028 single base substitution T A upstream_gene_variant MELA-AU 9 82316353 82316353 single base substitution C T intron_variant MELA-AU 9 82316353 82316353 single base substitution C T upstream_gene_variant MELA-AU 9 82316555 82316555 single base substitution G A intron_variant MELA-AU 9 82316555 82316555 single base substitution G A upstream_gene_variant MELA-AU 9 82317055 82317055 single base substitution G A intron_variant MELA-AU 9 82317055 82317055 single base substitution G A upstream_gene_variant MELA-AU 9 82317090 82317090 single base substitution G A intron_variant MELA-AU 9 82317090 82317090 single base substitution G A upstream_gene_variant MELA-AU 9 82317166 82317166 single base substitution C T intron_variant MELA-AU 9 82317166 82317166 single base substitution C T upstream_gene_variant MELA-AU 9 82317207 82317207 single base substitution A C intron_variant MELA-AU 9 82317207 82317207 single base substitution A C upstream_gene_variant MELA-AU 9 82317319 82317319 single base substitution C T intron_variant MELA-AU 9 82317319 82317319 single base substitution C T upstream_gene_variant MELA-AU 9 82317821 82317821 single base substitution G A intron_variant MELA-AU 9 82317821 82317821 single base substitution G A upstream_gene_variant MELA-AU 9 82317841 82317841 single base substitution C T intron_variant MELA-AU 9 82317841 82317841 single base substitution C T upstream_gene_variant MELA-AU 9 82318131 82318131 single base substitution C T intron_variant MELA-AU 9 82318131 82318131 single base substitution C T upstream_gene_variant MELA-AU 9 82318396 82318396 single base substitution C T intron_variant MELA-AU 9 82318396 82318396 single base substitution C T upstream_gene_variant MELA-AU 9 82318461 82318461 single base substitution C T intron_variant MELA-AU 9 82318461 82318461 single base substitution C T upstream_gene_variant MELA-AU 9 82318509 82318509 single base substitution C T intron_variant MELA-AU 9 82318509 82318509 single base substitution C T upstream_gene_variant MELA-AU 9 82318848 82318848 single base substitution C T intron_variant MELA-AU 9 82318848 82318848 single base substitution C T upstream_gene_variant MELA-AU 9 82318859 82318859 single base substitution C T intron_variant MELA-AU 9 82318859 82318859 single base substitution C T upstream_gene_variant MELA-AU 9 82318879 82318879 single base substitution C T intron_variant MELA-AU 9 82318879 82318879 single base substitution C T upstream_gene_variant MELA-AU 9 82318998 82318998 single base substitution C T intron_variant MELA-AU 9 82318998 82318998 single base substitution C T upstream_gene_variant MELA-AU 9 82319244 82319244 single base substitution G A intron_variant MELA-AU 9 82319244 82319244 single base substitution G A upstream_gene_variant MELA-AU 9 82319333 82319333 single base substitution C T intron_variant MELA-AU 9 82319333 82319333 single base substitution C T upstream_gene_variant MELA-AU 9 82319333 82319334 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 82319333 82319334 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 9 82319523 82319523 single base substitution C T intron_variant MELA-AU 9 82319523 82319523 single base substitution C T upstream_gene_variant MELA-AU 9 82319666 82319666 single base substitution C T exon_variant MELA-AU 9 82319666 82319666 single base substitution C T intron_variant MELA-AU 9 82319666 82319666 single base substitution C T upstream_gene_variant MELA-AU 9 82319685 82319685 single base substitution C T exon_variant MELA-AU 9 82319685 82319685 single base substitution C T intron_variant MELA-AU 9 82319685 82319685 single base substitution C T upstream_gene_variant MELA-AU 9 82319694 82319694 single base substitution C T exon_variant MELA-AU 9 82319694 82319694 single base substitution C T intron_variant MELA-AU 9 82319694 82319694 single base substitution C T splice_region_variant MELA-AU 9 82319694 82319694 single base substitution C T upstream_gene_variant MELA-AU 9 82320111 82320111 single base substitution T C intron_variant MELA-AU 9 82320111 82320111 single base substitution T C upstream_gene_variant MELA-AU 9 82320327 82320327 single base substitution G A intron_variant MELA-AU 9 82320327 82320327 single base substitution G A upstream_gene_variant MELA-AU 9 82320374 82320374 single base substitution C T intron_variant MELA-AU 9 82320374 82320374 single base substitution C T upstream_gene_variant MELA-AU 9 82320413 82320413 single base substitution G A intron_variant MELA-AU 9 82320413 82320413 single base substitution G A upstream_gene_variant MELA-AU 9 82320602 82320602 single base substitution C T intron_variant MELA-AU 9 82320602 82320602 single base substitution C T upstream_gene_variant MELA-AU 9 82320972 82320972 single base substitution T G intron_variant MELA-AU 9 82320972 82320972 single base substitution T G upstream_gene_variant MELA-AU 9 82321375 82321375 single base substitution C T intron_variant MELA-AU 9 82321375 82321375 single base substitution C T upstream_gene_variant MELA-AU 9 82321593 82321593 single base substitution C T intron_variant MELA-AU 9 82321593 82321593 single base substitution C T upstream_gene_variant MELA-AU 9 82321643 82321643 single base substitution C T intron_variant MELA-AU 9 82321643 82321643 single base substitution C T upstream_gene_variant MELA-AU 9 82322050 82322050 single base substitution G A intron_variant MELA-AU 9 82322050 82322050 single base substitution G A missense_variant G251R 751G>A MELA-AU 9 82322050 82322050 single base substitution G A missense_variant G317R 949G>A MELA-AU 9 82322050 82322050 single base substitution G A missense_variant G49R 145G>A MELA-AU 9 82322050 82322050 single base substitution G A upstream_gene_variant MELA-AU 9 82322397 82322397 single base substitution C T intron_variant MELA-AU 9 82322397 82322397 single base substitution C T upstream_gene_variant MELA-AU 9 82322480 82322480 single base substitution G A intron_variant MELA-AU 9 82322480 82322480 single base substitution G A upstream_gene_variant MELA-AU 9 82322557 82322557 single base substitution T C intron_variant MELA-AU 9 82322557 82322557 single base substitution T C upstream_gene_variant MELA-AU 9 82322570 82322570 single base substitution C A intron_variant MELA-AU 9 82322570 82322570 single base substitution C A upstream_gene_variant MELA-AU 9 82322893 82322893 single base substitution C T intron_variant MELA-AU 9 82322893 82322893 single base substitution C T upstream_gene_variant MELA-AU 9 82322993 82322993 single base substitution C T intron_variant MELA-AU 9 82322993 82322993 single base substitution C T upstream_gene_variant MELA-AU 9 82323203 82323203 single base substitution C T downstream_gene_variant MELA-AU 9 82323203 82323203 single base substitution C T intron_variant MELA-AU 9 82323203 82323203 single base substitution C T upstream_gene_variant MELA-AU 9 82323302 82323302 single base substitution G A downstream_gene_variant MELA-AU 9 82323302 82323302 single base substitution G A intron_variant MELA-AU 9 82323302 82323302 single base substitution G A upstream_gene_variant MELA-AU 9 82323572 82323572 single base substitution C T 3_prime_UTR_variant MELA-AU 9 82323572 82323572 single base substitution C T downstream_gene_variant MELA-AU 9 82323572 82323572 single base substitution C T exon_variant MELA-AU 9 82323572 82323572 single base substitution C T synonymous_variant P106P 318C>T MELA-AU 9 82323572 82323572 single base substitution C T synonymous_variant P142P 426C>T MELA-AU 9 82323572 82323572 single base substitution C T synonymous_variant P15P 45C>T MELA-AU 9 82323572 82323572 single base substitution C T synonymous_variant P168P 504C>T MELA-AU 9 82323572 82323572 single base substitution C T synonymous_variant P197P 591C>T MELA-AU 9 82323572 82323572 single base substitution C T synonymous_variant P309P 927C>T MELA-AU 9 82323572 82323572 single base substitution C T synonymous_variant P353P 1059C>T MELA-AU 9 82323572 82323572 single base substitution C T synonymous_variant P378P 1134C>T MELA-AU 9 82323572 82323572 single base substitution C T synonymous_variant P410P 1230C>T MELA-AU 9 82323741 82323741 single base substitution G A downstream_gene_variant MELA-AU 9 82323741 82323741 single base substitution G A intron_variant MELA-AU 9 82323881 82323881 single base substitution G A downstream_gene_variant MELA-AU 9 82323881 82323881 single base substitution G A intron_variant MELA-AU 9 82323890 82323890 single base substitution G C downstream_gene_variant MELA-AU 9 82323890 82323890 single base substitution G C intron_variant MELA-AU 9 82324681 82324681 single base substitution T C downstream_gene_variant MELA-AU 9 82324681 82324681 single base substitution T C intron_variant MELA-AU 9 82324713 82324713 single base substitution C T downstream_gene_variant MELA-AU 9 82324713 82324713 single base substitution C T intron_variant MELA-AU 9 82324751 82324751 single base substitution C T downstream_gene_variant MELA-AU 9 82324751 82324751 single base substitution C T intron_variant MELA-AU 9 82324760 82324760 single base substitution T C downstream_gene_variant MELA-AU 9 82324760 82324760 single base substitution T C intron_variant MELA-AU 9 82324884 82324884 single base substitution C T downstream_gene_variant MELA-AU 9 82324884 82324884 single base substitution C T intron_variant MELA-AU 9 82324952 82324952 single base substitution T C downstream_gene_variant MELA-AU 9 82324952 82324952 single base substitution T C intron_variant MELA-AU 9 82325527 82325527 single base substitution C T downstream_gene_variant MELA-AU 9 82325527 82325527 single base substitution C T intron_variant MELA-AU 9 82325645 82325645 single base substitution C T downstream_gene_variant MELA-AU 9 82325645 82325645 single base substitution C T intron_variant MELA-AU 9 82325673 82325673 single base substitution C T downstream_gene_variant MELA-AU 9 82325673 82325673 single base substitution C T intron_variant MELA-AU 9 82326004 82326004 single base substitution C T downstream_gene_variant MELA-AU 9 82326004 82326004 single base substitution C T intron_variant MELA-AU 9 82326159 82326159 single base substitution G A downstream_gene_variant MELA-AU 9 82326159 82326159 single base substitution G A intron_variant MELA-AU 9 82326173 82326173 single base substitution C T downstream_gene_variant MELA-AU 9 82326173 82326173 single base substitution C T intron_variant MELA-AU 9 82327710 82327710 single base substitution C T downstream_gene_variant MELA-AU 9 82327710 82327710 single base substitution C T intron_variant MELA-AU 9 82327982 82327982 single base substitution C T downstream_gene_variant MELA-AU 9 82327982 82327982 single base substitution C T intron_variant MELA-AU 9 82327993 82327993 single base substitution C T downstream_gene_variant MELA-AU 9 82327993 82327993 single base substitution C T intron_variant MELA-AU 9 82328286 82328286 single base substitution C T downstream_gene_variant MELA-AU 9 82328286 82328286 single base substitution C T intron_variant MELA-AU 9 82328434 82328434 single base substitution C T downstream_gene_variant MELA-AU 9 82328434 82328434 single base substitution C T intron_variant MELA-AU 9 82329140 82329140 single base substitution C T downstream_gene_variant MELA-AU 9 82329140 82329140 single base substitution C T intron_variant MELA-AU 9 82329164 82329164 single base substitution C T downstream_gene_variant MELA-AU 9 82329164 82329164 single base substitution C T intron_variant MELA-AU 9 82329247 82329247 single base substitution T C downstream_gene_variant MELA-AU 9 82329247 82329247 single base substitution T C intron_variant MELA-AU 9 82329360 82329360 single base substitution C T downstream_gene_variant MELA-AU 9 82329360 82329360 single base substitution C T intron_variant MELA-AU 9 82329518 82329518 single base substitution C T downstream_gene_variant MELA-AU 9 82329518 82329518 single base substitution C T intron_variant MELA-AU 9 82329800 82329800 single base substitution C T intron_variant MELA-AU 9 82329845 82329845 single base substitution G A intron_variant MELA-AU 9 82330188 82330188 single base substitution C T intron_variant MELA-AU 9 82330200 82330200 single base substitution G A intron_variant MELA-AU 9 82330296 82330296 single base substitution C T intron_variant MELA-AU 9 82330668 82330668 single base substitution C T intron_variant MELA-AU 9 82330969 82330969 single base substitution C T intron_variant MELA-AU 9 82331186 82331186 single base substitution C T intron_variant MELA-AU 9 82331349 82331349 single base substitution C T intron_variant MELA-AU 9 82331553 82331553 single base substitution C T intron_variant MELA-AU 9 82331803 82331803 single base substitution T C intron_variant MELA-AU 9 82332142 82332142 single base substitution C T intron_variant MELA-AU 9 82332145 82332145 single base substitution C T intron_variant MELA-AU 9 82332165 82332165 single base substitution C T intron_variant MELA-AU 9 82332188 82332188 single base substitution C T intron_variant MELA-AU 9 82332256 82332256 single base substitution C T intron_variant MELA-AU 9 82332281 82332281 single base substitution C T intron_variant MELA-AU 9 82332642 82332642 single base substitution C T intron_variant MELA-AU 9 82332687 82332687 single base substitution C T intron_variant MELA-AU 9 82333230 82333230 single base substitution C T intron_variant MELA-AU 9 82333248 82333248 single base substitution T G intron_variant MELA-AU 9 82333259 82333259 single base substitution G A intron_variant MELA-AU 9 82333516 82333516 single base substitution C T intron_variant MELA-AU 9 82333620 82333620 single base substitution C T intron_variant MELA-AU 9 82333621 82333621 single base substitution C T intron_variant MELA-AU 9 82333682 82333682 single base substitution C T 3_prime_UTR_variant MELA-AU 9 82333682 82333682 single base substitution C T exon_variant MELA-AU 9 82333682 82333682 single base substitution C T synonymous_variant V277V 831C>T MELA-AU 9 82333682 82333682 single base substitution C T synonymous_variant V393V 1179C>T MELA-AU 9 82333682 82333682 single base substitution C T synonymous_variant V437V 1311C>T MELA-AU 9 82333682 82333682 single base substitution C T synonymous_variant V462V 1386C>T MELA-AU 9 82333682 82333682 single base substitution C T synonymous_variant V494V 1482C>T MELA-AU 9 82333682 82333682 single base substitution C T synonymous_variant V99V 297C>T MELA-AU 9 82333699 82333699 single base substitution C T 3_prime_UTR_variant MELA-AU 9 82333699 82333699 single base substitution C T exon_variant MELA-AU 9 82333699 82333699 single base substitution C T missense_variant A105V 314C>T MELA-AU 9 82333699 82333699 single base substitution C T missense_variant A283V 848C>T MELA-AU 9 82333699 82333699 single base substitution C T missense_variant A399V 1196C>T MELA-AU 9 82333699 82333699 single base substitution C T missense_variant A443V 1328C>T MELA-AU 9 82333699 82333699 single base substitution C T missense_variant A468V 1403C>T MELA-AU 9 82333699 82333699 single base substitution C T missense_variant A500V 1499C>T MELA-AU 9 82333708 82333708 single base substitution G A 3_prime_UTR_variant MELA-AU 9 82333708 82333708 single base substitution G A exon_variant MELA-AU 9 82333708 82333708 single base substitution G A missense_variant G108E 323G>A MELA-AU 9 82333708 82333708 single base substitution G A missense_variant G286E 857G>A MELA-AU 9 82333708 82333708 single base substitution G A missense_variant G402E 1205G>A MELA-AU 9 82333708 82333708 single base substitution G A missense_variant G446E 1337G>A MELA-AU 9 82333708 82333708 single base substitution G A missense_variant G471E 1412G>A MELA-AU 9 82333708 82333708 single base substitution G A missense_variant G503E 1508G>A MELA-AU 9 82333799 82333799 single base substitution C T 3_prime_UTR_variant MELA-AU 9 82333799 82333799 single base substitution C T exon_variant MELA-AU 9 82333799 82333799 single base substitution C T synonymous_variant H138H 414C>T MELA-AU 9 82333799 82333799 single base substitution C T synonymous_variant H316H 948C>T MELA-AU 9 82333799 82333799 single base substitution C T synonymous_variant H432H 1296C>T MELA-AU 9 82333799 82333799 single base substitution C T synonymous_variant H476H 1428C>T MELA-AU 9 82333799 82333799 single base substitution C T synonymous_variant H501H 1503C>T MELA-AU 9 82333799 82333799 single base substitution C T synonymous_variant H533H 1599C>T MELA-AU 9 82333993 82333993 single base substitution G A downstream_gene_variant MELA-AU 9 82333993 82333993 single base substitution G A intron_variant MELA-AU 9 82334825 82334825 single base substitution C T downstream_gene_variant MELA-AU 9 82334825 82334825 single base substitution C T intron_variant MELA-AU 9 82334889 82334889 single base substitution G A downstream_gene_variant MELA-AU 9 82334889 82334889 single base substitution G A intron_variant MELA-AU 9 82334918 82334918 single base substitution C T downstream_gene_variant MELA-AU 9 82334918 82334918 single base substitution C T intron_variant MELA-AU 9 82335245 82335245 single base substitution G A downstream_gene_variant MELA-AU 9 82335245 82335245 single base substitution G A intron_variant MELA-AU 9 82335468 82335468 single base substitution C T downstream_gene_variant MELA-AU 9 82335468 82335468 single base substitution C T intron_variant MELA-AU 9 82335515 82335515 single base substitution G A downstream_gene_variant MELA-AU 9 82335515 82335515 single base substitution G A intron_variant MELA-AU 9 82335592 82335592 single base substitution C G downstream_gene_variant MELA-AU 9 82335592 82335592 single base substitution C G intron_variant MELA-AU 9 82336063 82336063 single base substitution G A downstream_gene_variant MELA-AU 9 82336063 82336063 single base substitution G A intron_variant MELA-AU 9 82336229 82336229 single base substitution G A downstream_gene_variant MELA-AU 9 82336229 82336229 single base substitution G A intron_variant MELA-AU 9 82336530 82336530 single base substitution C T downstream_gene_variant MELA-AU 9 82336530 82336530 single base substitution C T intron_variant MELA-AU 9 82336634 82336634 single base substitution C T downstream_gene_variant MELA-AU 9 82336634 82336634 single base substitution C T intron_variant MELA-AU 9 82337566 82337566 single base substitution C T downstream_gene_variant MELA-AU 9 82337566 82337566 single base substitution C T intron_variant MELA-AU 9 82337657 82337657 single base substitution T C downstream_gene_variant MELA-AU 9 82337657 82337657 single base substitution T C intron_variant MELA-AU 9 82337947 82337947 single base substitution C T 3_prime_UTR_variant MELA-AU 9 82337947 82337947 single base substitution C T downstream_gene_variant MELA-AU 9 82337947 82337947 single base substitution C T synonymous_variant F374F 1122C>T MELA-AU 9 82337947 82337947 single base substitution C T synonymous_variant F668F 2004C>T MELA-AU 9 82337947 82337947 single base substitution C T synonymous_variant F712F 2136C>T MELA-AU 9 82337947 82337947 single base substitution C T synonymous_variant F737F 2211C>T MELA-AU 9 82337947 82337947 single base substitution C T synonymous_variant F769F 2307C>T MELA-AU 9 82338220 82338220 single base substitution G A downstream_gene_variant MELA-AU 9 82338220 82338220 single base substitution G A intron_variant MELA-AU 9 82338351 82338351 single base substitution G A downstream_gene_variant MELA-AU 9 82338351 82338351 single base substitution G A intron_variant MELA-AU 9 82338401 82338401 single base substitution C T downstream_gene_variant MELA-AU 9 82338401 82338401 single base substitution C T intron_variant MELA-AU 9 82338592 82338592 single base substitution C T downstream_gene_variant MELA-AU 9 82338592 82338592 single base substitution C T intron_variant MELA-AU 9 82338607 82338607 single base substitution T C downstream_gene_variant MELA-AU 9 82338607 82338607 single base substitution T C intron_variant MELA-AU 9 82338852 82338852 single base substitution G T downstream_gene_variant MELA-AU 9 82338852 82338852 single base substitution G T intron_variant MELA-AU 9 82339074 82339074 single base substitution T A downstream_gene_variant MELA-AU 9 82339074 82339074 single base substitution T A intron_variant MELA-AU 9 82339173 82339173 single base substitution A G downstream_gene_variant MELA-AU 9 82339173 82339173 single base substitution A G intron_variant MELA-AU 9 82339291 82339291 single base substitution C T downstream_gene_variant MELA-AU 9 82339291 82339291 single base substitution C T intron_variant MELA-AU 9 82339582 82339582 single base substitution G A downstream_gene_variant MELA-AU 9 82339582 82339582 single base substitution G A intron_variant MELA-AU 9 82339749 82339749 single base substitution G A downstream_gene_variant MELA-AU 9 82339749 82339749 single base substitution G A intron_variant MELA-AU 9 82339965 82339965 single base substitution C T 3_prime_UTR_variant MELA-AU 9 82339965 82339965 single base substitution C T downstream_gene_variant MELA-AU 9 82339965 82339965 single base substitution C T missense_variant S380L 1139C>T MELA-AU 9 82339965 82339965 single base substitution C T missense_variant S674L 2021C>T MELA-AU 9 82339965 82339965 single base substitution C T missense_variant S718L 2153C>T MELA-AU 9 82339965 82339965 single base substitution C T missense_variant S743L 2228C>T MELA-AU 9 82339965 82339965 single base substitution C T missense_variant S775L 2324C>T MELA-AU 9 82340016 82340016 single base substitution G A 3_prime_UTR_variant MELA-AU 9 82340016 82340016 single base substitution G A downstream_gene_variant MELA-AU 9 82340016 82340016 single base substitution G A missense_variant G397D 1190G>A MELA-AU 9 82340016 82340016 single base substitution G A missense_variant G691D 2072G>A MELA-AU 9 82340016 82340016 single base substitution G A missense_variant G735D 2204G>A MELA-AU 9 82340016 82340016 single base substitution G A missense_variant G760D 2279G>A MELA-AU 9 82340016 82340016 single base substitution G A missense_variant G792D 2375G>A MELA-AU 9 82340116 82340116 single base substitution C T 3_prime_UTR_variant MELA-AU 9 82340116 82340116 single base substitution C T downstream_gene_variant MELA-AU 9 82340149 82340149 single base substitution C T 3_prime_UTR_variant MELA-AU 9 82340149 82340149 single base substitution C T downstream_gene_variant MELA-AU 9 82340314 82340314 single base substitution A G 3_prime_UTR_variant MELA-AU 9 82340314 82340314 single base substitution A G downstream_gene_variant MELA-AU 9 82340728 82340728 single base substitution G A 3_prime_UTR_variant MELA-AU 9 82340728 82340728 single base substitution G A downstream_gene_variant MELA-AU 9 82340871 82340871 single base substitution G A 3_prime_UTR_variant MELA-AU 9 82340871 82340871 single base substitution G A downstream_gene_variant MELA-AU 9 82340969 82340969 single base substitution G A 3_prime_UTR_variant MELA-AU 9 82340969 82340969 single base substitution G A downstream_gene_variant MELA-AU 9 82340975 82340975 single base substitution T G 3_prime_UTR_variant MELA-AU 9 82340975 82340975 single base substitution T G downstream_gene_variant MELA-AU 9 82341057 82341057 single base substitution A G 3_prime_UTR_variant MELA-AU 9 82341057 82341057 single base substitution A G downstream_gene_variant MELA-AU 9 82341131 82341131 single base substitution C T 3_prime_UTR_variant MELA-AU 9 82341131 82341131 single base substitution C T downstream_gene_variant MELA-AU 9 82341236 82341236 single base substitution G A 3_prime_UTR_variant MELA-AU 9 82341236 82341236 single base substitution G A downstream_gene_variant MELA-AU 9 82341256 82341256 single base substitution T A 3_prime_UTR_variant MELA-AU 9 82341256 82341256 single base substitution T A downstream_gene_variant MELA-AU 9 82341752 82341752 single base substitution C T downstream_gene_variant MELA-AU 9 82341974 82341974 single base substitution C T downstream_gene_variant MELA-AU 9 82342332 82342332 single base substitution C T downstream_gene_variant MELA-AU 9 82342738 82342738 single base substitution G A downstream_gene_variant MELA-AU 9 82342790 82342790 single base substitution G A downstream_gene_variant MELA-AU 9 82342795 82342795 single base substitution G A downstream_gene_variant MELA-AU 9 82343521 82343521 single base substitution C T downstream_gene_variant MELA-AU 9 82344010 82344010 single base substitution G A downstream_gene_variant MELA-AU 9 82344575 82344575 single base substitution T G downstream_gene_variant MELA-AU 9 82344761 82344761 single base substitution G A downstream_gene_variant MELA-AU 9 82344763 82344763 single base substitution G A downstream_gene_variant MELA-AU 9 82344975 82344975 single base substitution C T downstream_gene_variant MELA-AU 9 82344982 82344982 single base substitution C T downstream_gene_variant MELA-AU 9 82345000 82345000 single base substitution C T downstream_gene_variant MELA-AU 9 82345007 82345007 single base substitution C T downstream_gene_variant MELA-AU 9 82345419 82345419 single base substitution G A downstream_gene_variant MELA-AU 9 82345468 82345468 single base substitution T A downstream_gene_variant MELA-AU 9 82345489 82345489 single base substitution G A downstream_gene_variant MELA-AU 9 82345497 82345497 single base substitution G A downstream_gene_variant MELA-AU 9 82345538 82345538 single base substitution C T downstream_gene_variant MELA-AU 9 82345698 82345698 single base substitution T C downstream_gene_variant MELA-AU 9 82345768 82345768 single base substitution C T downstream_gene_variant MELA-AU 9 82345776 82345776 single base substitution G A downstream_gene_variant MELA-AU 9 82345802 82345802 single base substitution C T downstream_gene_variant MELA-AU 9 82345811 82345811 single base substitution C T downstream_gene_variant MELA-AU 9 82346169 82346169 single base substitution C T downstream_gene_variant MELA-AU 9 82346484 82346484 single base substitution C T downstream_gene_variant ORCA-IN 9 82233887 82233887 insertion of <=200bp - G intron_variant ORCA-IN 9 82235745 82235745 single base substitution G A intron_variant ORCA-IN 9 82256070 82256070 deletion of <=200bp C - intron_variant ORCA-IN 9 82265656 82265656 single base substitution A G downstream_gene_variant ORCA-IN 9 82265656 82265656 single base substitution A G intron_variant ORCA-IN 9 82265656 82265656 single base substitution A G upstream_gene_variant ORCA-IN 9 82267365 82267365 single base substitution G T downstream_gene_variant ORCA-IN 9 82267365 82267365 single base substitution G T intron_variant ORCA-IN 9 82267365 82267365 single base substitution G T upstream_gene_variant ORCA-IN 9 82276001 82276001 single base substitution G A intron_variant ORCA-IN 9 82276001 82276001 single base substitution G A upstream_gene_variant ORCA-IN 9 82276282 82276282 single base substitution C T intron_variant ORCA-IN 9 82276282 82276282 single base substitution C T upstream_gene_variant ORCA-IN 9 82286700 82286700 single base substitution G A downstream_gene_variant ORCA-IN 9 82286700 82286700 single base substitution G A intron_variant ORCA-IN 9 82339997 82339997 single base substitution G A 3_prime_UTR_variant ORCA-IN 9 82339997 82339997 single base substitution G A downstream_gene_variant ORCA-IN 9 82339997 82339997 single base substitution G A missense_variant D391N 1171G>A ORCA-IN 9 82339997 82339997 single base substitution G A missense_variant D685N 2053G>A ORCA-IN 9 82339997 82339997 single base substitution G A missense_variant D729N 2185G>A ORCA-IN 9 82339997 82339997 single base substitution G A missense_variant D754N 2260G>A ORCA-IN 9 82339997 82339997 single base substitution G A missense_variant D786N 2356G>A OV-AU 9 82182918 82182918 single base substitution C T upstream_gene_variant OV-AU 9 82182921 82182921 single base substitution C T upstream_gene_variant OV-AU 9 82182941 82182941 single base substitution C T upstream_gene_variant OV-AU 9 82183235 82183235 single base substitution C A upstream_gene_variant OV-AU 9 82186472 82186472 single base substitution C T upstream_gene_variant OV-AU 9 82188792 82188792 single base substitution G C intron_variant OV-AU 9 82188792 82188792 single base substitution G C upstream_gene_variant OV-AU 9 82193924 82193924 single base substitution G C downstream_gene_variant OV-AU 9 82193924 82193924 single base substitution G C intron_variant OV-AU 9 82193924 82193924 single base substitution G C upstream_gene_variant OV-AU 9 82204119 82204119 single base substitution G A intron_variant OV-AU 9 82214909 82214909 single base substitution A T intron_variant OV-AU 9 82215132 82215132 single base substitution A G intron_variant OV-AU 9 82219823 82219823 single base substitution C T intron_variant OV-AU 9 82223475 82223475 single base substitution A G intron_variant OV-AU 9 82227329 82227329 single base substitution G T intron_variant OV-AU 9 82229401 82229401 single base substitution C G intron_variant OV-AU 9 82230037 82230037 single base substitution C G intron_variant OV-AU 9 82230107 82230107 single base substitution G A intron_variant OV-AU 9 82234328 82234328 single base substitution A C intron_variant OV-AU 9 82237375 82237375 single base substitution C T intron_variant OV-AU 9 82237979 82237979 single base substitution A G intron_variant OV-AU 9 82238643 82238643 single base substitution T A intron_variant OV-AU 9 82241296 82241296 single base substitution C A intron_variant OV-AU 9 82243030 82243030 single base substitution A G downstream_gene_variant OV-AU 9 82243030 82243030 single base substitution A G intron_variant OV-AU 9 82243710 82243710 single base substitution G A downstream_gene_variant OV-AU 9 82243710 82243710 single base substitution G A intron_variant OV-AU 9 82244505 82244505 single base substitution G A downstream_gene_variant OV-AU 9 82244505 82244505 single base substitution G A intron_variant OV-AU 9 82245343 82245343 single base substitution T C downstream_gene_variant OV-AU 9 82245343 82245343 single base substitution T C intron_variant OV-AU 9 82247691 82247691 single base substitution A C intron_variant OV-AU 9 82253229 82253229 single base substitution C A intron_variant OV-AU 9 82259411 82259411 single base substitution G T intron_variant OV-AU 9 82261581 82261581 single base substitution C T intron_variant OV-AU 9 82263848 82263848 single base substitution A T intron_variant OV-AU 9 82263848 82263848 single base substitution A T upstream_gene_variant OV-AU 9 82265881 82265881 single base substitution G A downstream_gene_variant OV-AU 9 82265881 82265881 single base substitution G A intron_variant OV-AU 9 82265881 82265881 single base substitution G A upstream_gene_variant OV-AU 9 82265976 82265976 single base substitution C G downstream_gene_variant OV-AU 9 82265976 82265976 single base substitution C G intron_variant OV-AU 9 82265976 82265976 single base substitution C G upstream_gene_variant OV-AU 9 82274175 82274175 single base substitution T C intron_variant OV-AU 9 82274175 82274175 single base substitution T C upstream_gene_variant OV-AU 9 82276270 82276270 single base substitution A G intron_variant OV-AU 9 82276270 82276270 single base substitution A G upstream_gene_variant OV-AU 9 82280582 82280582 single base substitution C G intron_variant OV-AU 9 82280848 82280848 single base substitution G A intron_variant OV-AU 9 82281253 82281253 single base substitution C T intron_variant OV-AU 9 82281360 82281360 single base substitution G A intron_variant OV-AU 9 82282108 82282108 single base substitution T A intron_variant OV-AU 9 82282657 82282657 single base substitution C T intron_variant OV-AU 9 82283544 82283544 single base substitution T A intron_variant OV-AU 9 82284593 82284593 single base substitution T C intron_variant OV-AU 9 82284664 82284664 single base substitution G C intron_variant OV-AU 9 82287321 82287321 single base substitution A G downstream_gene_variant OV-AU 9 82287321 82287321 single base substitution A G intron_variant OV-AU 9 82287419 82287419 single base substitution A T downstream_gene_variant OV-AU 9 82287419 82287419 single base substitution A T intron_variant OV-AU 9 82290650 82290650 single base substitution G A downstream_gene_variant OV-AU 9 82290650 82290650 single base substitution G A intron_variant OV-AU 9 82291688 82291688 single base substitution G A intron_variant OV-AU 9 82296360 82296360 single base substitution A G intron_variant OV-AU 9 82297810 82297810 single base substitution C T intron_variant OV-AU 9 82297826 82297826 single base substitution A C intron_variant OV-AU 9 82299175 82299175 single base substitution A G intron_variant OV-AU 9 82310743 82310743 single base substitution G C intron_variant OV-AU 9 82311109 82311109 single base substitution A G intron_variant OV-AU 9 82311969 82311969 single base substitution A G intron_variant OV-AU 9 82313634 82313634 single base substitution A T intron_variant OV-AU 9 82319638 82319638 single base substitution A G exon_variant OV-AU 9 82319638 82319638 single base substitution A G intron_variant OV-AU 9 82319638 82319638 single base substitution A G upstream_gene_variant OV-AU 9 82320048 82320048 single base substitution G A intron_variant OV-AU 9 82320048 82320048 single base substitution G A upstream_gene_variant OV-AU 9 82321855 82321855 single base substitution C T intron_variant OV-AU 9 82321855 82321855 single base substitution C T upstream_gene_variant OV-AU 9 82326486 82326486 single base substitution C G downstream_gene_variant OV-AU 9 82326486 82326486 single base substitution C G intron_variant OV-AU 9 82331202 82331202 single base substitution T A intron_variant OV-AU 9 82335173 82335173 single base substitution C G 3_prime_UTR_variant OV-AU 9 82335173 82335173 single base substitution C G downstream_gene_variant OV-AU 9 82335173 82335173 single base substitution C G intron_variant OV-AU 9 82335173 82335173 single base substitution C G missense_variant I238M 714C>G OV-AU 9 82335173 82335173 single base substitution C G missense_variant I532M 1596C>G OV-AU 9 82335173 82335173 single base substitution C G missense_variant I576M 1728C>G OV-AU 9 82335173 82335173 single base substitution C G missense_variant I601M 1803C>G OV-AU 9 82335173 82335173 single base substitution C G missense_variant I633M 1899C>G OV-AU 9 82337225 82337225 single base substitution A C downstream_gene_variant OV-AU 9 82337225 82337225 single base substitution A C intron_variant OV-AU 9 82342799 82342799 single base substitution G C downstream_gene_variant OV-US 9 82319728 82319728 single base substitution C T 3_prime_UTR_variant OV-US 9 82319728 82319728 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant OV-US 9 82319728 82319728 single base substitution C T exon_variant OV-US 9 82319728 82319728 single base substitution C T stop_gained R11* 31C>T OV-US 9 82319728 82319728 single base substitution C T stop_gained R189* 565C>T OV-US 9 82319728 82319728 single base substitution C T stop_gained R199* 595C>T OV-US 9 82319728 82319728 single base substitution C T stop_gained R214* 640C>T OV-US 9 82319728 82319728 single base substitution C T stop_gained R4* 10C>T OV-US 9 82319728 82319728 single base substitution C T stop_gained R84* 250C>T OV-US 9 82319728 82319728 single base substitution C T upstream_gene_variant PACA-AU 9 82183899 82183899 single base substitution C T upstream_gene_variant PACA-AU 9 82187262 82187262 single base substitution G A 5_prime_UTR_variant PACA-AU 9 82187262 82187262 single base substitution G A upstream_gene_variant PACA-AU 9 82188544 82188544 single base substitution T A exon_variant PACA-AU 9 82188544 82188544 single base substitution T A intron_variant PACA-AU 9 82188544 82188544 single base substitution T A upstream_gene_variant PACA-AU 9 82188661 82188661 single base substitution A T 5_prime_UTR_variant PACA-AU 9 82188661 82188661 single base substitution A T exon_variant PACA-AU 9 82188661 82188661 single base substitution A T missense_variant I20F 58A>T PACA-AU 9 82188661 82188661 single base substitution A T missense_variant I33F 97A>T PACA-AU 9 82188661 82188661 single base substitution A T missense_variant I35F 103A>T PACA-AU 9 82188661 82188661 single base substitution A T upstream_gene_variant PACA-AU 9 82195008 82195008 single base substitution G A downstream_gene_variant PACA-AU 9 82195008 82195008 single base substitution G A exon_variant PACA-AU 9 82195008 82195008 single base substitution G A intron_variant PACA-AU 9 82195008 82195008 single base substitution G A upstream_gene_variant PACA-AU 9 82195346 82195353 deletion of <=200bp GATTTATT - downstream_gene_variant PACA-AU 9 82195346 82195353 deletion of <=200bp GATTTATT - intron_variant PACA-AU 9 82195526 82195526 single base substitution C A downstream_gene_variant PACA-AU 9 82195526 82195526 single base substitution C A intron_variant PACA-AU 9 82198285 82198285 single base substitution G A downstream_gene_variant PACA-AU 9 82198285 82198285 single base substitution G A intron_variant PACA-AU 9 82207134 82207134 single base substitution T C intron_variant PACA-AU 9 82207137 82207137 single base substitution T C intron_variant PACA-AU 9 82207143 82207143 single base substitution T C intron_variant PACA-AU 9 82207154 82207154 single base substitution T C intron_variant PACA-AU 9 82207160 82207160 single base substitution T C intron_variant PACA-AU 9 82208364 82208364 single base substitution C T intron_variant PACA-AU 9 82208700 82208700 single base substitution C G intron_variant PACA-AU 9 82209776 82209776 single base substitution A C intron_variant PACA-AU 9 82215961 82215961 single base substitution A T intron_variant PACA-AU 9 82219112 82219112 single base substitution G A intron_variant PACA-AU 9 82234748 82234748 single base substitution G T intron_variant PACA-AU 9 82234798 82234798 single base substitution T G intron_variant PACA-AU 9 82237712 82237712 single base substitution G A intron_variant PACA-AU 9 82240517 82240517 single base substitution A T intron_variant PACA-AU 9 82241542 82241542 single base substitution C G intron_variant PACA-AU 9 82243304 82243304 single base substitution T C downstream_gene_variant PACA-AU 9 82243304 82243304 single base substitution T C intron_variant PACA-AU 9 82244108 82244108 single base substitution G A downstream_gene_variant PACA-AU 9 82244108 82244108 single base substitution G A intron_variant PACA-AU 9 82246634 82246634 single base substitution A G downstream_gene_variant PACA-AU 9 82246634 82246634 single base substitution A G intron_variant PACA-AU 9 82249182 82249182 single base substitution C T intron_variant PACA-AU 9 82250196 82250196 single base substitution C A intron_variant PACA-AU 9 82250650 82250650 single base substitution G A intron_variant PACA-AU 9 82251475 82251475 single base substitution G T intron_variant PACA-AU 9 82257738 82257738 single base substitution C A intron_variant PACA-AU 9 82259765 82259765 single base substitution G A intron_variant PACA-AU 9 82260990 82260990 single base substitution A G intron_variant PACA-AU 9 82261948 82261948 single base substitution G A intron_variant PACA-AU 9 82263477 82263477 single base substitution A G intron_variant PACA-AU 9 82263477 82263477 single base substitution A G upstream_gene_variant PACA-AU 9 82267628 82267628 single base substitution G T 3_prime_UTR_variant PACA-AU 9 82267628 82267628 single base substitution G T 5_prime_UTR_variant PACA-AU 9 82267628 82267628 single base substitution G T downstream_gene_variant PACA-AU 9 82267628 82267628 single base substitution G T exon_variant PACA-AU 9 82267628 82267628 single base substitution G T missense_variant A146S 436G>T PACA-AU 9 82267628 82267628 single base substitution G T missense_variant A156S 466G>T PACA-AU 9 82267628 82267628 single base substitution G T missense_variant A169S 505G>T PACA-AU 9 82267628 82267628 single base substitution G T missense_variant A171S 511G>T PACA-AU 9 82267628 82267628 single base substitution G T missense_variant A185S 553G>T PACA-AU 9 82267628 82267628 single base substitution G T missense_variant A41S 121G>T PACA-AU 9 82273746 82273746 single base substitution C A intron_variant PACA-AU 9 82273746 82273746 single base substitution C A upstream_gene_variant PACA-AU 9 82281726 82281726 single base substitution T G intron_variant PACA-AU 9 82282671 82282671 single base substitution A G intron_variant PACA-AU 9 82283020 82283020 single base substitution G T intron_variant PACA-AU 9 82298270 82298270 single base substitution A C intron_variant PACA-AU 9 82300813 82300813 single base substitution C T intron_variant PACA-AU 9 82304091 82304091 insertion of <=200bp - TG intron_variant PACA-AU 9 82304763 82304763 single base substitution T C intron_variant PACA-AU 9 82304841 82304841 single base substitution C T intron_variant PACA-AU 9 82305811 82305811 single base substitution G A intron_variant PACA-AU 9 82309549 82309549 single base substitution A C intron_variant PACA-AU 9 82310938 82310938 single base substitution C A intron_variant PACA-AU 9 82311079 82311079 single base substitution A G intron_variant PACA-AU 9 82313184 82313184 single base substitution T A intron_variant PACA-AU 9 82313447 82313447 single base substitution A G intron_variant PACA-AU 9 82313822 82313822 single base substitution C T intron_variant PACA-AU 9 82313912 82313912 single base substitution C A intron_variant PACA-AU 9 82315967 82315967 single base substitution G A intron_variant PACA-AU 9 82315967 82315967 single base substitution G A upstream_gene_variant PACA-AU 9 82316618 82316618 single base substitution C T intron_variant PACA-AU 9 82316618 82316618 single base substitution C T upstream_gene_variant PACA-AU 9 82319763 82319765 deletion of <=200bp CTC - 3_prime_UTR_variant PACA-AU 9 82319763 82319765 deletion of <=200bp CTC - 5_prime_UTR_variant PACA-AU 9 82319763 82319765 deletion of <=200bp CTC - exon_variant PACA-AU 9 82319763 82319765 deletion of <=200bp CTC - inframe_deletion YS15Y PACA-AU 9 82319763 82319765 deletion of <=200bp CTC - inframe_deletion YS200Y PACA-AU 9 82319763 82319765 deletion of <=200bp CTC - inframe_deletion YS210Y PACA-AU 9 82319763 82319765 deletion of <=200bp CTC - inframe_deletion YS225Y PACA-AU 9 82319763 82319765 deletion of <=200bp CTC - inframe_deletion YS22Y PACA-AU 9 82319763 82319765 deletion of <=200bp CTC - inframe_deletion YS95Y PACA-AU 9 82319763 82319765 deletion of <=200bp CTC - upstream_gene_variant PACA-AU 9 82322725 82322725 single base substitution T C intron_variant PACA-AU 9 82322725 82322725 single base substitution T C upstream_gene_variant PACA-AU 9 82323661 82323661 single base substitution C A 3_prime_UTR_variant PACA-AU 9 82323661 82323661 single base substitution C A downstream_gene_variant PACA-AU 9 82323661 82323661 single base substitution C A exon_variant PACA-AU 9 82323661 82323661 single base substitution C A missense_variant A136D 407C>A PACA-AU 9 82323661 82323661 single base substitution C A missense_variant A172D 515C>A PACA-AU 9 82323661 82323661 single base substitution C A missense_variant A198D 593C>A PACA-AU 9 82323661 82323661 single base substitution C A missense_variant A227D 680C>A PACA-AU 9 82323661 82323661 single base substitution C A missense_variant A339D 1016C>A PACA-AU 9 82323661 82323661 single base substitution C A missense_variant A383D 1148C>A PACA-AU 9 82323661 82323661 single base substitution C A missense_variant A408D 1223C>A PACA-AU 9 82323661 82323661 single base substitution C A missense_variant A440D 1319C>A PACA-AU 9 82323661 82323661 single base substitution C A missense_variant A45D 134C>A PACA-AU 9 82323751 82323751 single base substitution A G downstream_gene_variant PACA-AU 9 82323751 82323751 single base substitution A G intron_variant PACA-AU 9 82325150 82325150 single base substitution C T downstream_gene_variant PACA-AU 9 82325150 82325150 single base substitution C T intron_variant PACA-AU 9 82330667 82330667 insertion of <=200bp - C intron_variant PACA-AU 9 82334296 82334296 single base substitution G A downstream_gene_variant PACA-AU 9 82334296 82334296 single base substitution G A intron_variant PACA-AU 9 82345108 82345108 single base substitution T A downstream_gene_variant PACA-CA 9 82184116 82184116 single base substitution T C upstream_gene_variant PACA-CA 9 82184765 82184765 single base substitution T A upstream_gene_variant PACA-CA 9 82185073 82185073 single base substitution C T upstream_gene_variant PACA-CA 9 82186435 82186435 single base substitution C T upstream_gene_variant PACA-CA 9 82191650 82191650 single base substitution T C 3_prime_UTR_variant PACA-CA 9 82191650 82191650 single base substitution T C downstream_gene_variant PACA-CA 9 82191650 82191650 single base substitution T C intron_variant PACA-CA 9 82191650 82191650 single base substitution T C upstream_gene_variant PACA-CA 9 82193825 82193825 single base substitution T A downstream_gene_variant PACA-CA 9 82193825 82193825 single base substitution T A intron_variant PACA-CA 9 82193825 82193825 single base substitution T A upstream_gene_variant PACA-CA 9 82194161 82194161 single base substitution A G downstream_gene_variant PACA-CA 9 82194161 82194161 single base substitution A G intron_variant PACA-CA 9 82194161 82194161 single base substitution A G upstream_gene_variant PACA-CA 9 82194563 82194563 single base substitution T A downstream_gene_variant PACA-CA 9 82194563 82194563 single base substitution T A intron_variant PACA-CA 9 82194563 82194563 single base substitution T A upstream_gene_variant PACA-CA 9 82194579 82194579 insertion of <=200bp - TG downstream_gene_variant PACA-CA 9 82194579 82194579 insertion of <=200bp - TG intron_variant PACA-CA 9 82194579 82194579 insertion of <=200bp - TG upstream_gene_variant PACA-CA 9 82194595 82194595 single base substitution G A downstream_gene_variant PACA-CA 9 82194595 82194595 single base substitution G A intron_variant PACA-CA 9 82194595 82194595 single base substitution G A upstream_gene_variant PACA-CA 9 82195432 82195432 single base substitution G A downstream_gene_variant PACA-CA 9 82195432 82195432 single base substitution G A intron_variant PACA-CA 9 82195751 82195751 single base substitution T G downstream_gene_variant PACA-CA 9 82195751 82195751 single base substitution T G intron_variant PACA-CA 9 82198797 82198797 single base substitution G A downstream_gene_variant PACA-CA 9 82198797 82198797 single base substitution G A intron_variant PACA-CA 9 82200039 82200039 deletion of <=200bp T - downstream_gene_variant PACA-CA 9 82200039 82200039 deletion of <=200bp T - intron_variant PACA-CA 9 82202137 82202137 single base substitution C G intron_variant PACA-CA 9 82202768 82202768 single base substitution G A intron_variant PACA-CA 9 82207712 82207712 single base substitution C G intron_variant PACA-CA 9 82207879 82207879 single base substitution G T intron_variant PACA-CA 9 82207933 82207933 single base substitution T C intron_variant PACA-CA 9 82210196 82210196 single base substitution G C intron_variant PACA-CA 9 82210306 82210306 single base substitution C T intron_variant PACA-CA 9 82211035 82211035 single base substitution A G intron_variant PACA-CA 9 82212386 82212386 insertion of <=200bp - T intron_variant PACA-CA 9 82213755 82213755 deletion of <=200bp C - intron_variant PACA-CA 9 82215635 82215635 single base substitution C T intron_variant PACA-CA 9 82217994 82217994 single base substitution G A intron_variant PACA-CA 9 82218745 82218745 single base substitution G T intron_variant PACA-CA 9 82218958 82218961 deletion of <=200bp ATAT - intron_variant PACA-CA 9 82221341 82221341 single base substitution G A intron_variant PACA-CA 9 82229172 82229172 single base substitution G A intron_variant PACA-CA 9 82235628 82235628 single base substitution T C intron_variant PACA-CA 9 82240238 82240238 single base substitution A C intron_variant PACA-CA 9 82243237 82243237 single base substitution T C downstream_gene_variant PACA-CA 9 82243237 82243237 single base substitution T C intron_variant PACA-CA 9 82246898 82246898 single base substitution G A downstream_gene_variant PACA-CA 9 82246898 82246898 single base substitution G A intron_variant PACA-CA 9 82251523 82251523 single base substitution G T intron_variant PACA-CA 9 82252429 82252429 single base substitution T A intron_variant PACA-CA 9 82254127 82254127 single base substitution C T intron_variant PACA-CA 9 82259133 82259133 single base substitution C A intron_variant PACA-CA 9 82259560 82259560 single base substitution C A intron_variant PACA-CA 9 82261021 82261021 single base substitution T G intron_variant PACA-CA 9 82268226 82268226 single base substitution A C downstream_gene_variant PACA-CA 9 82268226 82268226 single base substitution A C intron_variant PACA-CA 9 82269660 82269660 single base substitution C T downstream_gene_variant PACA-CA 9 82269660 82269660 single base substitution C T intron_variant PACA-CA 9 82280678 82280678 single base substitution T A intron_variant PACA-CA 9 82285643 82285643 single base substitution G A intron_variant PACA-CA 9 82289866 82289866 single base substitution A G downstream_gene_variant PACA-CA 9 82289866 82289866 single base substitution A G intron_variant PACA-CA 9 82292007 82292007 single base substitution A T intron_variant PACA-CA 9 82293445 82293448 deletion of <=200bp CAGT - intron_variant PACA-CA 9 82298616 82298616 single base substitution G A intron_variant PACA-CA 9 82302831 82302831 single base substitution G T intron_variant PACA-CA 9 82303746 82303746 single base substitution C G intron_variant PACA-CA 9 82311711 82311711 single base substitution A G intron_variant PACA-CA 9 82312240 82312240 single base substitution A G intron_variant PACA-CA 9 82317829 82317829 single base substitution G A intron_variant PACA-CA 9 82317829 82317829 single base substitution G A upstream_gene_variant PACA-CA 9 82318851 82318851 insertion of <=200bp - G intron_variant PACA-CA 9 82318851 82318851 insertion of <=200bp - G upstream_gene_variant PACA-CA 9 82319156 82319156 single base substitution G A intron_variant PACA-CA 9 82319156 82319156 single base substitution G A upstream_gene_variant PACA-CA 9 82320916 82320916 single base substitution C T intron_variant PACA-CA 9 82320916 82320916 single base substitution C T upstream_gene_variant PACA-CA 9 82321529 82321529 single base substitution T C intron_variant PACA-CA 9 82321529 82321529 single base substitution T C upstream_gene_variant PACA-CA 9 82323301 82323301 single base substitution C T downstream_gene_variant PACA-CA 9 82323301 82323301 single base substitution C T intron_variant PACA-CA 9 82323301 82323301 single base substitution C T upstream_gene_variant PACA-CA 9 82323671 82323671 single base substitution T C 3_prime_UTR_variant PACA-CA 9 82323671 82323671 single base substitution T C downstream_gene_variant PACA-CA 9 82323671 82323671 single base substitution T C exon_variant PACA-CA 9 82323671 82323671 single base substitution T C synonymous_variant A139A 417T>C PACA-CA 9 82323671 82323671 single base substitution T C synonymous_variant A175A 525T>C PACA-CA 9 82323671 82323671 single base substitution T C synonymous_variant A201A 603T>C PACA-CA 9 82323671 82323671 single base substitution T C synonymous_variant A230A 690T>C PACA-CA 9 82323671 82323671 single base substitution T C synonymous_variant A342A 1026T>C PACA-CA 9 82323671 82323671 single base substitution T C synonymous_variant A386A 1158T>C PACA-CA 9 82323671 82323671 single base substitution T C synonymous_variant A411A 1233T>C PACA-CA 9 82323671 82323671 single base substitution T C synonymous_variant A443A 1329T>C PACA-CA 9 82323671 82323671 single base substitution T C synonymous_variant A48A 144T>C PACA-CA 9 82326122 82326122 single base substitution G C downstream_gene_variant PACA-CA 9 82326122 82326122 single base substitution G C intron_variant PACA-CA 9 82326535 82326535 single base substitution G A downstream_gene_variant PACA-CA 9 82326535 82326535 single base substitution G A intron_variant PACA-CA 9 82329278 82329278 single base substitution T C downstream_gene_variant PACA-CA 9 82329278 82329278 single base substitution T C intron_variant PACA-CA 9 82329727 82329727 single base substitution C T intron_variant PACA-CA 9 82331298 82331298 single base substitution T C intron_variant PACA-CA 9 82331903 82331903 single base substitution T C intron_variant PACA-CA 9 82332992 82332992 single base substitution C A intron_variant PACA-CA 9 82332992 82332992 single base substitution C A splice_region_variant PACA-CA 9 82333694 82333694 single base substitution C T 3_prime_UTR_variant PACA-CA 9 82333694 82333694 single base substitution C T exon_variant PACA-CA 9 82333694 82333694 single base substitution C T synonymous_variant P103P 309C>T PACA-CA 9 82333694 82333694 single base substitution C T synonymous_variant P281P 843C>T PACA-CA 9 82333694 82333694 single base substitution C T synonymous_variant P397P 1191C>T PACA-CA 9 82333694 82333694 single base substitution C T synonymous_variant P441P 1323C>T PACA-CA 9 82333694 82333694 single base substitution C T synonymous_variant P466P 1398C>T PACA-CA 9 82333694 82333694 single base substitution C T synonymous_variant P498P 1494C>T PACA-CA 9 82333771 82333771 single base substitution C T 3_prime_UTR_variant PACA-CA 9 82333771 82333771 single base substitution C T exon_variant PACA-CA 9 82333771 82333771 single base substitution C T missense_variant A129V 386C>T PACA-CA 9 82333771 82333771 single base substitution C T missense_variant A307V 920C>T PACA-CA 9 82333771 82333771 single base substitution C T missense_variant A423V 1268C>T PACA-CA 9 82333771 82333771 single base substitution C T missense_variant A467V 1400C>T PACA-CA 9 82333771 82333771 single base substitution C T missense_variant A492V 1475C>T PACA-CA 9 82333771 82333771 single base substitution C T missense_variant A524V 1571C>T PACA-CA 9 82335622 82335622 single base substitution T C downstream_gene_variant PACA-CA 9 82335622 82335622 single base substitution T C intron_variant PACA-CA 9 82337736 82337736 single base substitution A G downstream_gene_variant PACA-CA 9 82337736 82337736 single base substitution A G intron_variant PACA-CA 9 82339162 82339162 single base substitution G A downstream_gene_variant PACA-CA 9 82339162 82339162 single base substitution G A intron_variant PACA-CA 9 82342480 82342480 single base substitution C T downstream_gene_variant PACA-CA 9 82342818 82342818 single base substitution G A downstream_gene_variant PACA-CA 9 82345497 82345497 single base substitution G A downstream_gene_variant PAEN-AU 9 82184335 82184335 single base substitution A T upstream_gene_variant PAEN-AU 9 82207154 82207154 single base substitution T C intron_variant PAEN-AU 9 82209907 82209907 single base substitution A T intron_variant PAEN-AU 9 82223497 82223497 single base substitution T G intron_variant PAEN-AU 9 82223920 82223920 single base substitution G T intron_variant PAEN-AU 9 82263545 82263545 single base substitution A G intron_variant PAEN-AU 9 82263545 82263545 single base substitution A G upstream_gene_variant PAEN-AU 9 82276527 82276527 single base substitution C T intron_variant PAEN-AU 9 82276527 82276527 single base substitution C T upstream_gene_variant PAEN-AU 9 82287033 82287033 single base substitution C T downstream_gene_variant PAEN-AU 9 82287033 82287033 single base substitution C T intron_variant PAEN-AU 9 82293716 82293716 single base substitution A G intron_variant PAEN-AU 9 82317362 82317362 single base substitution C G intron_variant PAEN-AU 9 82317362 82317362 single base substitution C G upstream_gene_variant PAEN-AU 9 82318330 82318330 single base substitution G A intron_variant PAEN-AU 9 82318330 82318330 single base substitution G A upstream_gene_variant PAEN-AU 9 82338897 82338897 single base substitution G A downstream_gene_variant PAEN-AU 9 82338897 82338897 single base substitution G A intron_variant PAEN-AU 9 82340982 82340982 deletion of <=200bp T - 3_prime_UTR_variant PAEN-AU 9 82340982 82340982 deletion of <=200bp T - downstream_gene_variant PAEN-AU 9 82346608 82346608 single base substitution C T downstream_gene_variant PAEN-IT 9 82193174 82193174 single base substitution C T downstream_gene_variant PAEN-IT 9 82193174 82193174 single base substitution C T intron_variant PAEN-IT 9 82193174 82193174 single base substitution C T upstream_gene_variant PAEN-IT 9 82336268 82336268 single base substitution C A downstream_gene_variant PAEN-IT 9 82336268 82336268 single base substitution C A intron_variant PBCA-DE 9 82186833 82186833 single base substitution G A 5_prime_UTR_variant PBCA-DE 9 82186833 82186833 single base substitution G A upstream_gene_variant PBCA-DE 9 82199594 82199595 deletion of <=200bp AA - downstream_gene_variant PBCA-DE 9 82199594 82199595 deletion of <=200bp AA - intron_variant PBCA-DE 9 82199748 82199748 single base substitution T A downstream_gene_variant PBCA-DE 9 82199748 82199748 single base substitution T A intron_variant PBCA-DE 9 82203051 82203052 deletion of <=200bp GT - intron_variant PBCA-DE 9 82204307 82204307 single base substitution T C intron_variant PBCA-DE 9 82210742 82210742 single base substitution G T intron_variant PBCA-DE 9 82219039 82219039 single base substitution C T intron_variant PBCA-DE 9 82219605 82219605 single base substitution G A intron_variant PBCA-DE 9 82225223 82225223 single base substitution A C intron_variant PBCA-DE 9 82231086 82231086 single base substitution G A intron_variant PBCA-DE 9 82233568 82233568 insertion of <=200bp - T intron_variant PBCA-DE 9 82238837 82238837 single base substitution G A intron_variant PBCA-DE 9 82258301 82258301 single base substitution A G intron_variant PBCA-DE 9 82270181 82270181 single base substitution G A downstream_gene_variant PBCA-DE 9 82270181 82270181 single base substitution G A intron_variant PBCA-DE 9 82271863 82271863 single base substitution T C downstream_gene_variant PBCA-DE 9 82271863 82271863 single base substitution T C intron_variant PBCA-DE 9 82274960 82274960 single base substitution C T intron_variant PBCA-DE 9 82274960 82274960 single base substitution C T upstream_gene_variant PBCA-DE 9 82276945 82276945 single base substitution A G intron_variant PBCA-DE 9 82276945 82276945 single base substitution A G upstream_gene_variant PBCA-DE 9 82289652 82289652 single base substitution G A downstream_gene_variant PBCA-DE 9 82289652 82289652 single base substitution G A intron_variant PBCA-DE 9 82290291 82290291 single base substitution C T downstream_gene_variant PBCA-DE 9 82290291 82290291 single base substitution C T intron_variant PBCA-DE 9 82293353 82293353 deletion of <=200bp T - intron_variant PBCA-DE 9 82296343 82296343 single base substitution A G intron_variant PBCA-DE 9 82302179 82302179 single base substitution C T intron_variant PBCA-DE 9 82305695 82305705 deletion of <=200bp TTTTTTTTTTT - intron_variant PBCA-DE 9 82316228 82316228 single base substitution T A intron_variant PBCA-DE 9 82316228 82316228 single base substitution T A upstream_gene_variant PBCA-DE 9 82322714 82322714 single base substitution C A intron_variant PBCA-DE 9 82322714 82322714 single base substitution C A upstream_gene_variant PBCA-DE 9 82332021 82332021 single base substitution G T intron_variant PBCA-DE 9 82338996 82338999 deletion of <=200bp TAAC - downstream_gene_variant PBCA-DE 9 82338996 82338999 deletion of <=200bp TAAC - intron_variant PRAD-CA 9 82182963 82182963 single base substitution T C upstream_gene_variant PRAD-CA 9 82192552 82192552 single base substitution A G downstream_gene_variant PRAD-CA 9 82192552 82192552 single base substitution A G intron_variant PRAD-CA 9 82192552 82192552 single base substitution A G upstream_gene_variant PRAD-CA 9 82207080 82207080 single base substitution T C intron_variant PRAD-CA 9 82207128 82207128 single base substitution T C intron_variant PRAD-CA 9 82213178 82213178 single base substitution G A intron_variant PRAD-CA 9 82241152 82241152 single base substitution G A intron_variant PRAD-CA 9 82243280 82243280 single base substitution G A downstream_gene_variant PRAD-CA 9 82243280 82243280 single base substitution G A intron_variant PRAD-CA 9 82267079 82267079 single base substitution T A downstream_gene_variant PRAD-CA 9 82267079 82267079 single base substitution T A intron_variant PRAD-CA 9 82267079 82267079 single base substitution T A upstream_gene_variant PRAD-CA 9 82284100 82284100 single base substitution C A intron_variant PRAD-CA 9 82296779 82296779 single base substitution A G intron_variant PRAD-CA 9 82316174 82316174 single base substitution T G intron_variant PRAD-CA 9 82316174 82316174 single base substitution T G upstream_gene_variant PRAD-UK 9 82183373 82183373 single base substitution A G upstream_gene_variant PRAD-UK 9 82183949 82183949 single base substitution A G upstream_gene_variant PRAD-UK 9 82184746 82184746 single base substitution A T upstream_gene_variant PRAD-UK 9 82186232 82186232 single base substitution T G upstream_gene_variant PRAD-UK 9 82192821 82192821 single base substitution G T downstream_gene_variant PRAD-UK 9 82192821 82192821 single base substitution G T intron_variant PRAD-UK 9 82192821 82192821 single base substitution G T upstream_gene_variant PRAD-UK 9 82195736 82195736 single base substitution T C downstream_gene_variant PRAD-UK 9 82195736 82195736 single base substitution T C intron_variant PRAD-UK 9 82207442 82207442 single base substitution C T intron_variant PRAD-UK 9 82214347 82214347 single base substitution G A intron_variant PRAD-UK 9 82221978 82221978 single base substitution C T intron_variant PRAD-UK 9 82222159 82222159 single base substitution T G intron_variant PRAD-UK 9 82222594 82222594 single base substitution T G intron_variant PRAD-UK 9 82224066 82224066 single base substitution A G intron_variant PRAD-UK 9 82226764 82226764 single base substitution C G intron_variant PRAD-UK 9 82241326 82241326 single base substitution C T intron_variant PRAD-UK 9 82241626 82241626 single base substitution C T intron_variant PRAD-UK 9 82259173 82259173 single base substitution T C intron_variant PRAD-UK 9 82272994 82272994 deletion of <=200bp T - intron_variant PRAD-UK 9 82277893 82277893 single base substitution T C intron_variant PRAD-UK 9 82277893 82277893 single base substitution T C upstream_gene_variant PRAD-UK 9 82286534 82286534 single base substitution C T downstream_gene_variant PRAD-UK 9 82286534 82286534 single base substitution C T intron_variant PRAD-UK 9 82287565 82287565 single base substitution G A downstream_gene_variant PRAD-UK 9 82287565 82287565 single base substitution G A intron_variant PRAD-UK 9 82291491 82291491 single base substitution T A intron_variant PRAD-UK 9 82318850 82318850 deletion of <=200bp T - intron_variant PRAD-UK 9 82318850 82318850 deletion of <=200bp T - upstream_gene_variant PRAD-UK 9 82322952 82322952 single base substitution C T intron_variant PRAD-UK 9 82322952 82322952 single base substitution C T upstream_gene_variant PRAD-UK 9 82326887 82326887 single base substitution G T downstream_gene_variant PRAD-UK 9 82326887 82326887 single base substitution G T intron_variant PRAD-UK 9 82337673 82337673 single base substitution A C downstream_gene_variant PRAD-UK 9 82337673 82337673 single base substitution A C intron_variant PRAD-US 9 82320809 82320809 single base substitution C T 3_prime_UTR_variant PRAD-US 9 82320809 82320809 single base substitution C T 5_prime_UTR_variant PRAD-US 9 82320809 82320809 single base substitution C T exon_variant PRAD-US 9 82320809 82320809 single base substitution C T intron_variant PRAD-US 9 82320809 82320809 single base substitution C T synonymous_variant S115S 345C>T PRAD-US 9 82320809 82320809 single base substitution C T synonymous_variant S220S 660C>T PRAD-US 9 82320809 82320809 single base substitution C T synonymous_variant S230S 690C>T PRAD-US 9 82320809 82320809 single base substitution C T synonymous_variant S245S 735C>T PRAD-US 9 82320809 82320809 single base substitution C T synonymous_variant S35S 105C>T PRAD-US 9 82320809 82320809 single base substitution C T upstream_gene_variant PRAD-US 9 82339965 82339965 single base substitution C T 3_prime_UTR_variant PRAD-US 9 82339965 82339965 single base substitution C T downstream_gene_variant PRAD-US 9 82339965 82339965 single base substitution C T missense_variant S380L 1139C>T PRAD-US 9 82339965 82339965 single base substitution C T missense_variant S674L 2021C>T PRAD-US 9 82339965 82339965 single base substitution C T missense_variant S718L 2153C>T PRAD-US 9 82339965 82339965 single base substitution C T missense_variant S743L 2228C>T PRAD-US 9 82339965 82339965 single base substitution C T missense_variant S775L 2324C>T READ-US 9 82227576 82227576 single base substitution G T 3_prime_UTR_variant READ-US 9 82227576 82227576 single base substitution G T 5_prime_UTR_variant READ-US 9 82227576 82227576 single base substitution G T exon_variant READ-US 9 82227576 82227576 single base substitution G T intron_variant READ-US 9 82227576 82227576 single base substitution G T missense_variant E71D 213G>T READ-US 9 82227576 82227576 single base substitution G T missense_variant E84D 252G>T READ-US 9 82227576 82227576 single base substitution G T missense_variant E86D 258G>T READ-US 9 82340053 82340053 single base substitution T G 3_prime_UTR_variant READ-US 9 82340053 82340053 single base substitution T G downstream_gene_variant READ-US 9 82340053 82340053 single base substitution T G missense_variant I409M 1227T>G READ-US 9 82340053 82340053 single base substitution T G missense_variant I703M 2109T>G READ-US 9 82340053 82340053 single base substitution T G missense_variant I747M 2241T>G READ-US 9 82340053 82340053 single base substitution T G missense_variant I772M 2316T>G READ-US 9 82340053 82340053 single base substitution T G missense_variant I804M 2412T>G RECA-EU 9 82185361 82185361 single base substitution C G upstream_gene_variant RECA-EU 9 82198255 82198255 single base substitution T A downstream_gene_variant RECA-EU 9 82198255 82198255 single base substitution T A intron_variant RECA-EU 9 82199606 82199606 single base substitution G T downstream_gene_variant RECA-EU 9 82199606 82199606 single base substitution G T intron_variant RECA-EU 9 82206323 82206323 single base substitution G A intron_variant RECA-EU 9 82228797 82228797 single base substitution T C intron_variant RECA-EU 9 82231150 82231150 single base substitution A G intron_variant RECA-EU 9 82232848 82232848 single base substitution G T intron_variant RECA-EU 9 82241339 82241339 single base substitution T G intron_variant RECA-EU 9 82257933 82257933 single base substitution T C intron_variant RECA-EU 9 82258138 82258138 single base substitution T C intron_variant RECA-EU 9 82278261 82278261 single base substitution T A intron_variant RECA-EU 9 82278261 82278261 single base substitution T A upstream_gene_variant RECA-EU 9 82278670 82278670 single base substitution C A intron_variant RECA-EU 9 82281869 82281869 single base substitution T A intron_variant RECA-EU 9 82281940 82281940 single base substitution G T intron_variant RECA-EU 9 82285354 82285354 single base substitution A T intron_variant RECA-EU 9 82289825 82289825 single base substitution T C downstream_gene_variant RECA-EU 9 82289825 82289825 single base substitution T C intron_variant RECA-EU 9 82292048 82292048 single base substitution G A intron_variant RECA-EU 9 82293361 82293361 single base substitution T A intron_variant RECA-EU 9 82304586 82304586 single base substitution C T intron_variant RECA-EU 9 82307605 82307605 single base substitution C G intron_variant RECA-EU 9 82314084 82314084 single base substitution A T intron_variant RECA-EU 9 82323198 82323198 single base substitution A T downstream_gene_variant RECA-EU 9 82323198 82323198 single base substitution A T intron_variant RECA-EU 9 82323198 82323198 single base substitution A T upstream_gene_variant RECA-EU 9 82328648 82328648 single base substitution G A downstream_gene_variant RECA-EU 9 82328648 82328648 single base substitution G A intron_variant RECA-EU 9 82334965 82334965 single base substitution G A 3_prime_UTR_variant RECA-EU 9 82334965 82334965 single base substitution G A downstream_gene_variant RECA-EU 9 82334965 82334965 single base substitution G A intron_variant RECA-EU 9 82334965 82334965 single base substitution G A missense_variant R169K 506G>A RECA-EU 9 82334965 82334965 single base substitution G A missense_variant R463K 1388G>A RECA-EU 9 82334965 82334965 single base substitution G A missense_variant R507K 1520G>A RECA-EU 9 82334965 82334965 single base substitution G A missense_variant R532K 1595G>A RECA-EU 9 82334965 82334965 single base substitution G A missense_variant R564K 1691G>A SKCA-BR 9 82182608 82182608 single base substitution G A upstream_gene_variant SKCA-BR 9 82183500 82183500 single base substitution C T upstream_gene_variant SKCA-BR 9 82185609 82185609 single base substitution G A upstream_gene_variant SKCA-BR 9 82185939 82185939 single base substitution C T upstream_gene_variant SKCA-BR 9 82185940 82185940 single base substitution C T upstream_gene_variant SKCA-BR 9 82187184 82187184 single base substitution C A 5_prime_UTR_variant SKCA-BR 9 82187184 82187184 single base substitution C A upstream_gene_variant SKCA-BR 9 82187571 82187571 single base substitution C G 5_prime_UTR_variant SKCA-BR 9 82187571 82187571 single base substitution C G exon_variant SKCA-BR 9 82187571 82187571 single base substitution C G upstream_gene_variant SKCA-BR 9 82187798 82187798 single base substitution C T intron_variant SKCA-BR 9 82187798 82187798 single base substitution C T upstream_gene_variant SKCA-BR 9 82192904 82192904 single base substitution C T downstream_gene_variant SKCA-BR 9 82192904 82192904 single base substitution C T intron_variant SKCA-BR 9 82192904 82192904 single base substitution C T upstream_gene_variant SKCA-BR 9 82198968 82198968 single base substitution C T downstream_gene_variant SKCA-BR 9 82198968 82198968 single base substitution C T intron_variant SKCA-BR 9 82200677 82200677 single base substitution T C intron_variant SKCA-BR 9 82201285 82201290 deletion of <=200bp AAAAAG - intron_variant SKCA-BR 9 82203834 82203834 single base substitution G A intron_variant SKCA-BR 9 82204239 82204239 single base substitution C T intron_variant SKCA-BR 9 82205099 82205099 single base substitution C T intron_variant SKCA-BR 9 82207025 82207026 deletion of <=200bp CT - intron_variant SKCA-BR 9 82207098 82207101 deletion of <=200bp CTCT - intron_variant SKCA-BR 9 82207128 82207128 single base substitution T C intron_variant SKCA-BR 9 82207450 82207450 single base substitution C T intron_variant SKCA-BR 9 82207935 82207935 single base substitution C T intron_variant SKCA-BR 9 82209407 82209407 single base substitution T C intron_variant SKCA-BR 9 82212396 82212396 single base substitution T G intron_variant SKCA-BR 9 82212989 82212990 deletion of <=200bp AG - intron_variant SKCA-BR 9 82213171 82213171 single base substitution A G intron_variant SKCA-BR 9 82215014 82215014 single base substitution C T intron_variant SKCA-BR 9 82216938 82216938 single base substitution A C intron_variant SKCA-BR 9 82219714 82219714 single base substitution C T intron_variant SKCA-BR 9 82221288 82221289 deletion of <=200bp GT - intron_variant SKCA-BR 9 82221293 82221293 single base substitution T G intron_variant SKCA-BR 9 82221692 82221692 single base substitution T G intron_variant SKCA-BR 9 82223231 82223231 single base substitution C T intron_variant SKCA-BR 9 82224097 82224097 single base substitution G A intron_variant SKCA-BR 9 82224390 82224390 single base substitution A G intron_variant SKCA-BR 9 82233567 82233567 insertion of <=200bp - GT intron_variant SKCA-BR 9 82234244 82234244 single base substitution C T intron_variant SKCA-BR 9 82237617 82237617 single base substitution C T intron_variant SKCA-BR 9 82240474 82240474 single base substitution T A intron_variant SKCA-BR 9 82240475 82240475 single base substitution C T intron_variant SKCA-BR 9 82245508 82245508 single base substitution C T downstream_gene_variant SKCA-BR 9 82245508 82245508 single base substitution C T intron_variant SKCA-BR 9 82246531 82246531 insertion of <=200bp - ATGTG downstream_gene_variant SKCA-BR 9 82246531 82246531 insertion of <=200bp - ATGTG intron_variant SKCA-BR 9 82247374 82247374 single base substitution C G downstream_gene_variant SKCA-BR 9 82247374 82247374 single base substitution C G intron_variant SKCA-BR 9 82248095 82248095 single base substitution G A intron_variant SKCA-BR 9 82250071 82250071 single base substitution T C intron_variant SKCA-BR 9 82251152 82251152 single base substitution C T intron_variant SKCA-BR 9 82255433 82255433 single base substitution C T intron_variant SKCA-BR 9 82255497 82255497 single base substitution C T intron_variant SKCA-BR 9 82256034 82256034 insertion of <=200bp - TA intron_variant SKCA-BR 9 82256863 82256864 deletion of <=200bp CT - intron_variant SKCA-BR 9 82257637 82257637 single base substitution C T intron_variant SKCA-BR 9 82258236 82258236 single base substitution C T intron_variant SKCA-BR 9 82260717 82260717 single base substitution G A intron_variant SKCA-BR 9 82263721 82263721 single base substitution C T intron_variant SKCA-BR 9 82263721 82263721 single base substitution C T upstream_gene_variant SKCA-BR 9 82264997 82264997 single base substitution A T downstream_gene_variant SKCA-BR 9 82264997 82264997 single base substitution A T intron_variant SKCA-BR 9 82264997 82264997 single base substitution A T upstream_gene_variant SKCA-BR 9 82265441 82265441 single base substitution C G downstream_gene_variant SKCA-BR 9 82265441 82265441 single base substitution C G intron_variant SKCA-BR 9 82265441 82265441 single base substitution C G upstream_gene_variant SKCA-BR 9 82266777 82266777 single base substitution C T downstream_gene_variant SKCA-BR 9 82266777 82266777 single base substitution C T intron_variant SKCA-BR 9 82266777 82266777 single base substitution C T upstream_gene_variant SKCA-BR 9 82267290 82267290 single base substitution G T downstream_gene_variant SKCA-BR 9 82267290 82267290 single base substitution G T intron_variant SKCA-BR 9 82267290 82267290 single base substitution G T upstream_gene_variant SKCA-BR 9 82267732 82267732 single base substitution C G downstream_gene_variant SKCA-BR 9 82267732 82267732 single base substitution C G intron_variant SKCA-BR 9 82269267 82269267 single base substitution A T downstream_gene_variant SKCA-BR 9 82269267 82269267 single base substitution A T intron_variant SKCA-BR 9 82271157 82271157 single base substitution G T downstream_gene_variant SKCA-BR 9 82271157 82271157 single base substitution G T intron_variant SKCA-BR 9 82271398 82271398 single base substitution A T downstream_gene_variant SKCA-BR 9 82271398 82271398 single base substitution A T intron_variant SKCA-BR 9 82271807 82271807 single base substitution C T downstream_gene_variant SKCA-BR 9 82271807 82271807 single base substitution C T intron_variant SKCA-BR 9 82275559 82275559 single base substitution A C intron_variant SKCA-BR 9 82275559 82275559 single base substitution A C upstream_gene_variant SKCA-BR 9 82275759 82275759 single base substitution C T intron_variant SKCA-BR 9 82275759 82275759 single base substitution C T upstream_gene_variant SKCA-BR 9 82275978 82275978 single base substitution A G intron_variant SKCA-BR 9 82275978 82275978 single base substitution A G upstream_gene_variant SKCA-BR 9 82279352 82279352 single base substitution C T intron_variant SKCA-BR 9 82280929 82280929 single base substitution C T intron_variant SKCA-BR 9 82282289 82282289 single base substitution C T intron_variant SKCA-BR 9 82282540 82282540 single base substitution G A intron_variant SKCA-BR 9 82283772 82283772 single base substitution A G intron_variant SKCA-BR 9 82285425 82285425 single base substitution C T intron_variant SKCA-BR 9 82287363 82287363 single base substitution A G downstream_gene_variant SKCA-BR 9 82287363 82287363 single base substitution A G intron_variant SKCA-BR 9 82289558 82289558 single base substitution T A downstream_gene_variant SKCA-BR 9 82289558 82289558 single base substitution T A intron_variant SKCA-BR 9 82289868 82289868 single base substitution T C downstream_gene_variant SKCA-BR 9 82289868 82289868 single base substitution T C intron_variant SKCA-BR 9 82290178 82290178 single base substitution C T downstream_gene_variant SKCA-BR 9 82290178 82290178 single base substitution C T intron_variant SKCA-BR 9 82291116 82291116 single base substitution C T downstream_gene_variant SKCA-BR 9 82291116 82291116 single base substitution C T intron_variant SKCA-BR 9 82293682 82293682 single base substitution C T intron_variant SKCA-BR 9 82295053 82295053 single base substitution T A intron_variant SKCA-BR 9 82295159 82295159 single base substitution C T intron_variant SKCA-BR 9 82296394 82296394 single base substitution T A intron_variant SKCA-BR 9 82297748 82297748 single base substitution C T intron_variant SKCA-BR 9 82298118 82298118 single base substitution A G intron_variant SKCA-BR 9 82298722 82298722 single base substitution G A intron_variant SKCA-BR 9 82299045 82299045 single base substitution T C intron_variant SKCA-BR 9 82301575 82301575 single base substitution C T intron_variant SKCA-BR 9 82303326 82303326 single base substitution G A intron_variant SKCA-BR 9 82305692 82305692 insertion of <=200bp - GGC intron_variant SKCA-BR 9 82306099 82306099 single base substitution C T intron_variant SKCA-BR 9 82308497 82308497 single base substitution C T intron_variant SKCA-BR 9 82309859 82309859 single base substitution C T intron_variant SKCA-BR 9 82310266 82310266 single base substitution T A intron_variant SKCA-BR 9 82314248 82314248 single base substitution C A intron_variant SKCA-BR 9 82314810 82314827 deletion of <=200bp ATATTAAAACCCTATAAT - intron_variant SKCA-BR 9 82314810 82314827 deletion of <=200bp ATATTAAAACCCTATAAT - upstream_gene_variant SKCA-BR 9 82315399 82315399 single base substitution C T intron_variant SKCA-BR 9 82315399 82315399 single base substitution C T upstream_gene_variant SKCA-BR 9 82315400 82315400 single base substitution T A intron_variant SKCA-BR 9 82315400 82315400 single base substitution T A upstream_gene_variant SKCA-BR 9 82318160 82318160 single base substitution C T intron_variant SKCA-BR 9 82318160 82318160 single base substitution C T upstream_gene_variant SKCA-BR 9 82318721 82318721 single base substitution G T intron_variant SKCA-BR 9 82318721 82318721 single base substitution G T upstream_gene_variant SKCA-BR 9 82318726 82318726 single base substitution T C intron_variant SKCA-BR 9 82318726 82318726 single base substitution T C upstream_gene_variant SKCA-BR 9 82320093 82320093 single base substitution C T intron_variant SKCA-BR 9 82320093 82320093 single base substitution C T upstream_gene_variant SKCA-BR 9 82320362 82320362 single base substitution C T intron_variant SKCA-BR 9 82320362 82320362 single base substitution C T upstream_gene_variant SKCA-BR 9 82320891 82320891 single base substitution G C intron_variant SKCA-BR 9 82320891 82320891 single base substitution G C upstream_gene_variant SKCA-BR 9 82323467 82323467 single base substitution C T downstream_gene_variant SKCA-BR 9 82323467 82323467 single base substitution C T intron_variant SKCA-BR 9 82323467 82323467 single base substitution C T upstream_gene_variant SKCA-BR 9 82328811 82328811 single base substitution G T downstream_gene_variant SKCA-BR 9 82328811 82328811 single base substitution G T intron_variant SKCA-BR 9 82329985 82329985 single base substitution G A intron_variant SKCA-BR 9 82330036 82330036 single base substitution T G intron_variant SKCA-BR 9 82331962 82331962 single base substitution T A intron_variant SKCA-BR 9 82332411 82332411 single base substitution T A intron_variant SKCA-BR 9 82335292 82335298 deletion of <=200bp GGTGTGT - downstream_gene_variant SKCA-BR 9 82335292 82335298 deletion of <=200bp GGTGTGT - intron_variant SKCA-BR 9 82335300 82335300 single base substitution T G downstream_gene_variant SKCA-BR 9 82335300 82335300 single base substitution T G intron_variant SKCA-BR 9 82335302 82335302 single base substitution T G downstream_gene_variant SKCA-BR 9 82335302 82335302 single base substitution T G intron_variant SKCA-BR 9 82335986 82335988 deletion of <=200bp CTG - downstream_gene_variant SKCA-BR 9 82335986 82335988 deletion of <=200bp CTG - intron_variant SKCA-BR 9 82337123 82337123 single base substitution C T downstream_gene_variant SKCA-BR 9 82337123 82337123 single base substitution C T intron_variant SKCA-BR 9 82340370 82340370 single base substitution T G 3_prime_UTR_variant SKCA-BR 9 82340370 82340370 single base substitution T G downstream_gene_variant SKCA-BR 9 82340562 82340562 single base substitution A G 3_prime_UTR_variant SKCA-BR 9 82340562 82340562 single base substitution A G downstream_gene_variant SKCA-BR 9 82342675 82342675 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 9 82342677 82342677 single base substitution T G downstream_gene_variant SKCA-BR 9 82342691 82342691 single base substitution A G downstream_gene_variant SKCM-US 9 82188651 82188651 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 9 82188651 82188651 single base substitution C T exon_variant SKCM-US 9 82188651 82188651 single base substitution C T synonymous_variant S16S 48C>T SKCM-US 9 82188651 82188651 single base substitution C T synonymous_variant S29S 87C>T SKCM-US 9 82188651 82188651 single base substitution C T synonymous_variant S31S 93C>T SKCM-US 9 82188651 82188651 single base substitution C T upstream_gene_variant SKCM-US 9 82242321 82242321 single base substitution G A 3_prime_UTR_variant SKCM-US 9 82242321 82242321 single base substitution G A 5_prime_UTR_variant SKCM-US 9 82242321 82242321 single base substitution G A exon_variant SKCM-US 9 82242321 82242321 single base substitution G A intron_variant SKCM-US 9 82242321 82242321 single base substitution G A synonymous_variant R101R 303G>A SKCM-US 9 82242321 82242321 single base substitution G A synonymous_variant R114R 342G>A SKCM-US 9 82242321 82242321 single base substitution G A synonymous_variant R116R 348G>A SKCM-US 9 82267548 82267548 single base substitution T G 3_prime_UTR_variant SKCM-US 9 82267548 82267548 single base substitution T G 5_prime_UTR_variant SKCM-US 9 82267548 82267548 single base substitution T G downstream_gene_variant SKCM-US 9 82267548 82267548 single base substitution T G exon_variant SKCM-US 9 82267548 82267548 single base substitution T G missense_variant L119R 356T>G SKCM-US 9 82267548 82267548 single base substitution T G missense_variant L129R 386T>G SKCM-US 9 82267548 82267548 single base substitution T G missense_variant L142R 425T>G SKCM-US 9 82267548 82267548 single base substitution T G missense_variant L144R 431T>G SKCM-US 9 82267548 82267548 single base substitution T G missense_variant L14R 41T>G SKCM-US 9 82267548 82267548 single base substitution T G missense_variant L158R 473T>G SKCM-US 9 82267548 82267548 single base substitution T G upstream_gene_variant SKCM-US 9 82267551 82267551 single base substitution C T 3_prime_UTR_variant SKCM-US 9 82267551 82267551 single base substitution C T 5_prime_UTR_variant SKCM-US 9 82267551 82267551 single base substitution C T downstream_gene_variant SKCM-US 9 82267551 82267551 single base substitution C T exon_variant SKCM-US 9 82267551 82267551 single base substitution C T missense_variant P120L 359C>T SKCM-US 9 82267551 82267551 single base substitution C T missense_variant P130L 389C>T SKCM-US 9 82267551 82267551 single base substitution C T missense_variant P143L 428C>T SKCM-US 9 82267551 82267551 single base substitution C T missense_variant P145L 434C>T SKCM-US 9 82267551 82267551 single base substitution C T missense_variant P159L 476C>T SKCM-US 9 82267551 82267551 single base substitution C T missense_variant P15L 44C>T SKCM-US 9 82267551 82267551 single base substitution C T upstream_gene_variant SKCM-US 9 82267644 82267644 single base substitution T C 3_prime_UTR_variant SKCM-US 9 82267644 82267644 single base substitution T C 5_prime_UTR_variant SKCM-US 9 82267644 82267644 single base substitution T C downstream_gene_variant SKCM-US 9 82267644 82267644 single base substitution T C exon_variant SKCM-US 9 82267644 82267644 single base substitution T C missense_variant L151P 452T>C SKCM-US 9 82267644 82267644 single base substitution T C missense_variant L161P 482T>C SKCM-US 9 82267644 82267644 single base substitution T C missense_variant L174P 521T>C SKCM-US 9 82267644 82267644 single base substitution T C missense_variant L176P 527T>C SKCM-US 9 82267644 82267644 single base substitution T C missense_variant L190P 569T>C SKCM-US 9 82267644 82267644 single base substitution T C missense_variant L46P 137T>C SKCM-US 9 82267687 82267687 single base substitution C T 3_prime_UTR_variant SKCM-US 9 82267687 82267687 single base substitution C T 5_prime_UTR_variant SKCM-US 9 82267687 82267687 single base substitution C T downstream_gene_variant SKCM-US 9 82267687 82267687 single base substitution C T exon_variant SKCM-US 9 82267687 82267687 single base substitution C T synonymous_variant H165H 495C>T SKCM-US 9 82267687 82267687 single base substitution C T synonymous_variant H175H 525C>T SKCM-US 9 82267687 82267687 single base substitution C T synonymous_variant H188H 564C>T SKCM-US 9 82267687 82267687 single base substitution C T synonymous_variant H190H 570C>T SKCM-US 9 82267687 82267687 single base substitution C T synonymous_variant H204H 612C>T SKCM-US 9 82267687 82267687 single base substitution C T synonymous_variant H60H 180C>T SKCM-US 9 82319705 82319705 single base substitution C T 3_prime_UTR_variant SKCM-US 9 82319705 82319705 single base substitution C T 5_prime_UTR_variant SKCM-US 9 82319705 82319705 single base substitution C T exon_variant SKCM-US 9 82319705 82319705 single base substitution C T missense_variant S181L 542C>T SKCM-US 9 82319705 82319705 single base substitution C T missense_variant S191L 572C>T SKCM-US 9 82319705 82319705 single base substitution C T missense_variant S206L 617C>T SKCM-US 9 82319705 82319705 single base substitution C T missense_variant S3L 8C>T SKCM-US 9 82319705 82319705 single base substitution C T missense_variant S76L 227C>T SKCM-US 9 82319705 82319705 single base substitution C T splice_region_variant SKCM-US 9 82319705 82319705 single base substitution C T upstream_gene_variant SKCM-US 9 82319812 82319812 single base substitution C T 3_prime_UTR_variant SKCM-US 9 82319812 82319812 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 9 82319812 82319812 single base substitution C T exon_variant SKCM-US 9 82319812 82319812 single base substitution C T missense_variant R112C 334C>T SKCM-US 9 82319812 82319812 single base substitution C T missense_variant R217C 649C>T SKCM-US 9 82319812 82319812 single base substitution C T missense_variant R227C 679C>T SKCM-US 9 82319812 82319812 single base substitution C T missense_variant R242C 724C>T SKCM-US 9 82319812 82319812 single base substitution C T missense_variant R32C 94C>T SKCM-US 9 82319812 82319812 single base substitution C T missense_variant R39C 115C>T SKCM-US 9 82319812 82319812 single base substitution C T upstream_gene_variant SKCM-US 9 82321672 82321672 single base substitution C T 3_prime_UTR_variant SKCM-US 9 82321672 82321672 single base substitution C T 5_prime_UTR_variant SKCM-US 9 82321672 82321672 single base substitution C T exon_variant SKCM-US 9 82321672 82321672 single base substitution C T intron_variant SKCM-US 9 82321672 82321672 single base substitution C T missense_variant S240F 719C>T SKCM-US 9 82321672 82321672 single base substitution C T missense_variant S265F 794C>T SKCM-US 9 82321672 82321672 single base substitution C T missense_variant S55F 164C>T SKCM-US 9 82321672 82321672 single base substitution C T upstream_gene_variant SKCM-US 9 82321756 82321756 single base substitution C T 3_prime_UTR_variant SKCM-US 9 82321756 82321756 single base substitution C T 5_prime_UTR_variant SKCM-US 9 82321756 82321756 single base substitution C T exon_variant SKCM-US 9 82321756 82321756 single base substitution C T intron_variant SKCM-US 9 82321756 82321756 single base substitution C T missense_variant P25L 74C>T SKCM-US 9 82321756 82321756 single base substitution C T missense_variant P268L 803C>T SKCM-US 9 82321756 82321756 single base substitution C T missense_variant P293L 878C>T SKCM-US 9 82321756 82321756 single base substitution C T missense_variant P83L 248C>T SKCM-US 9 82321756 82321756 single base substitution C T upstream_gene_variant SKCM-US 9 82321762 82321762 single base substitution C G 3_prime_UTR_variant SKCM-US 9 82321762 82321762 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 9 82321762 82321762 single base substitution C G exon_variant SKCM-US 9 82321762 82321762 single base substitution C G intron_variant SKCM-US 9 82321762 82321762 single base substitution C G missense_variant S270C 809C>G SKCM-US 9 82321762 82321762 single base substitution C G missense_variant S27C 80C>G SKCM-US 9 82321762 82321762 single base substitution C G missense_variant S295C 884C>G SKCM-US 9 82321762 82321762 single base substitution C G missense_variant S85C 254C>G SKCM-US 9 82321762 82321762 single base substitution C G upstream_gene_variant SKCM-US 9 82322050 82322050 single base substitution G A intron_variant SKCM-US 9 82322050 82322050 single base substitution G A missense_variant G251R 751G>A SKCM-US 9 82322050 82322050 single base substitution G A missense_variant G317R 949G>A SKCM-US 9 82322050 82322050 single base substitution G A missense_variant G49R 145G>A SKCM-US 9 82322050 82322050 single base substitution G A upstream_gene_variant SKCM-US 9 82322052 82322052 single base substitution G A intron_variant SKCM-US 9 82322052 82322052 single base substitution G A synonymous_variant G251G 753G>A SKCM-US 9 82322052 82322052 single base substitution G A synonymous_variant G317G 951G>A SKCM-US 9 82322052 82322052 single base substitution G A synonymous_variant G49G 147G>A SKCM-US 9 82322052 82322052 single base substitution G A upstream_gene_variant SKCM-US 9 82323082 82323082 single base substitution G A 3_prime_UTR_variant SKCM-US 9 82323082 82323082 single base substitution G A 5_prime_UTR_variant SKCM-US 9 82323082 82323082 single base substitution G A downstream_gene_variant SKCM-US 9 82323082 82323082 single base substitution G A exon_variant SKCM-US 9 82323082 82323082 single base substitution G A missense_variant R119Q 356G>A SKCM-US 9 82323082 82323082 single base substitution G A missense_variant R148Q 443G>A SKCM-US 9 82323082 82323082 single base substitution G A missense_variant R260Q 779G>A SKCM-US 9 82323082 82323082 single base substitution G A missense_variant R295Q 884G>A SKCM-US 9 82323082 82323082 single base substitution G A missense_variant R304Q 911G>A SKCM-US 9 82323082 82323082 single base substitution G A missense_variant R329Q 986G>A SKCM-US 9 82323082 82323082 single base substitution G A missense_variant R361Q 1082G>A SKCM-US 9 82323082 82323082 single base substitution G A missense_variant R57Q 170G>A SKCM-US 9 82323082 82323082 single base substitution G A missense_variant R93Q 278G>A SKCM-US 9 82323082 82323082 single base substitution G A upstream_gene_variant SKCM-US 9 82323159 82323159 single base substitution C T 3_prime_UTR_variant SKCM-US 9 82323159 82323159 single base substitution C T 5_prime_UTR_variant SKCM-US 9 82323159 82323159 single base substitution C T downstream_gene_variant SKCM-US 9 82323159 82323159 single base substitution C T missense_variant P119S 355C>T SKCM-US 9 82323159 82323159 single base substitution C T missense_variant P145S 433C>T SKCM-US 9 82323159 82323159 single base substitution C T missense_variant P174S 520C>T SKCM-US 9 82323159 82323159 single base substitution C T missense_variant P286S 856C>T SKCM-US 9 82323159 82323159 single base substitution C T missense_variant P321S 961C>T SKCM-US 9 82323159 82323159 single base substitution C T missense_variant P330S 988C>T SKCM-US 9 82323159 82323159 single base substitution C T missense_variant P355S 1063C>T SKCM-US 9 82323159 82323159 single base substitution C T missense_variant P387S 1159C>T SKCM-US 9 82323159 82323159 single base substitution C T missense_variant P83S 247C>T SKCM-US 9 82323159 82323159 single base substitution C T upstream_gene_variant SKCM-US 9 82323515 82323515 single base substitution C T 3_prime_UTR_variant SKCM-US 9 82323515 82323515 single base substitution C T 5_prime_UTR_variant SKCM-US 9 82323515 82323515 single base substitution C T downstream_gene_variant SKCM-US 9 82323515 82323515 single base substitution C T exon_variant SKCM-US 9 82323515 82323515 single base substitution C T synonymous_variant S123S 369C>T SKCM-US 9 82323515 82323515 single base substitution C T synonymous_variant S149S 447C>T SKCM-US 9 82323515 82323515 single base substitution C T synonymous_variant S178S 534C>T SKCM-US 9 82323515 82323515 single base substitution C T synonymous_variant S290S 870C>T SKCM-US 9 82323515 82323515 single base substitution C T synonymous_variant S334S 1002C>T SKCM-US 9 82323515 82323515 single base substitution C T synonymous_variant S359S 1077C>T SKCM-US 9 82323515 82323515 single base substitution C T synonymous_variant S391S 1173C>T SKCM-US 9 82323515 82323515 single base substitution C T synonymous_variant S87S 261C>T SKCM-US 9 82323694 82323694 single base substitution C T 3_prime_UTR_variant SKCM-US 9 82323694 82323694 single base substitution C T downstream_gene_variant SKCM-US 9 82323694 82323694 single base substitution C T exon_variant SKCM-US 9 82323694 82323694 single base substitution C T missense_variant S147L 440C>T SKCM-US 9 82323694 82323694 single base substitution C T missense_variant S183L 548C>T SKCM-US 9 82323694 82323694 single base substitution C T missense_variant S209L 626C>T SKCM-US 9 82323694 82323694 single base substitution C T missense_variant S238L 713C>T SKCM-US 9 82323694 82323694 single base substitution C T missense_variant S350L 1049C>T SKCM-US 9 82323694 82323694 single base substitution C T missense_variant S394L 1181C>T SKCM-US 9 82323694 82323694 single base substitution C T missense_variant S419L 1256C>T SKCM-US 9 82323694 82323694 single base substitution C T missense_variant S451L 1352C>T SKCM-US 9 82323694 82323694 single base substitution C T missense_variant S56L 167C>T SKCM-US 9 82324555 82324555 single base substitution C T 3_prime_UTR_variant SKCM-US 9 82324555 82324555 single base substitution C T downstream_gene_variant SKCM-US 9 82324555 82324555 single base substitution C T exon_variant SKCM-US 9 82324555 82324555 single base substitution C T synonymous_variant H155H 465C>T SKCM-US 9 82324555 82324555 single base substitution C T synonymous_variant H191H 573C>T SKCM-US 9 82324555 82324555 single base substitution C T synonymous_variant H217H 651C>T SKCM-US 9 82324555 82324555 single base substitution C T synonymous_variant H358H 1074C>T SKCM-US 9 82324555 82324555 single base substitution C T synonymous_variant H402H 1206C>T SKCM-US 9 82324555 82324555 single base substitution C T synonymous_variant H427H 1281C>T SKCM-US 9 82324555 82324555 single base substitution C T synonymous_variant H459H 1377C>T SKCM-US 9 82324555 82324555 single base substitution C T synonymous_variant H64H 192C>T SKCM-US 9 82324572 82324572 single base substitution C T 3_prime_UTR_variant SKCM-US 9 82324572 82324572 single base substitution C T downstream_gene_variant SKCM-US 9 82324572 82324572 single base substitution C T exon_variant SKCM-US 9 82324572 82324572 single base substitution C T missense_variant P161L 482C>T SKCM-US 9 82324572 82324572 single base substitution C T missense_variant P197L 590C>T SKCM-US 9 82324572 82324572 single base substitution C T missense_variant P223L 668C>T SKCM-US 9 82324572 82324572 single base substitution C T missense_variant P364L 1091C>T SKCM-US 9 82324572 82324572 single base substitution C T missense_variant P408L 1223C>T SKCM-US 9 82324572 82324572 single base substitution C T missense_variant P433L 1298C>T SKCM-US 9 82324572 82324572 single base substitution C T missense_variant P465L 1394C>T SKCM-US 9 82324572 82324572 single base substitution C T missense_variant P70L 209C>T SKCM-US 9 82333688 82333688 single base substitution T C 3_prime_UTR_variant SKCM-US 9 82333688 82333688 single base substitution T C exon_variant SKCM-US 9 82333688 82333688 single base substitution T C synonymous_variant F101F 303T>C SKCM-US 9 82333688 82333688 single base substitution T C synonymous_variant F279F 837T>C SKCM-US 9 82333688 82333688 single base substitution T C synonymous_variant F395F 1185T>C SKCM-US 9 82333688 82333688 single base substitution T C synonymous_variant F439F 1317T>C SKCM-US 9 82333688 82333688 single base substitution T C synonymous_variant F464F 1392T>C SKCM-US 9 82333688 82333688 single base substitution T C synonymous_variant F496F 1488T>C SKCM-US 9 82333695 82333695 single base substitution G A 3_prime_UTR_variant SKCM-US 9 82333695 82333695 single base substitution G A exon_variant SKCM-US 9 82333695 82333695 single base substitution G A missense_variant D104N 310G>A SKCM-US 9 82333695 82333695 single base substitution G A missense_variant D282N 844G>A SKCM-US 9 82333695 82333695 single base substitution G A missense_variant D398N 1192G>A SKCM-US 9 82333695 82333695 single base substitution G A missense_variant D442N 1324G>A SKCM-US 9 82333695 82333695 single base substitution G A missense_variant D467N 1399G>A SKCM-US 9 82333695 82333695 single base substitution G A missense_variant D499N 1495G>A SKCM-US 9 82333708 82333708 single base substitution G A 3_prime_UTR_variant SKCM-US 9 82333708 82333708 single base substitution G A exon_variant SKCM-US 9 82333708 82333708 single base substitution G A missense_variant G108E 323G>A SKCM-US 9 82333708 82333708 single base substitution G A missense_variant G286E 857G>A SKCM-US 9 82333708 82333708 single base substitution G A missense_variant G402E 1205G>A SKCM-US 9 82333708 82333708 single base substitution G A missense_variant G446E 1337G>A SKCM-US 9 82333708 82333708 single base substitution G A missense_variant G471E 1412G>A SKCM-US 9 82333708 82333708 single base substitution G A missense_variant G503E 1508G>A SKCM-US 9 82336705 82336705 single base substitution G A 3_prime_UTR_variant SKCM-US 9 82336705 82336705 single base substitution G A downstream_gene_variant SKCM-US 9 82336705 82336705 single base substitution G A intron_variant SKCM-US 9 82336705 82336705 single base substitution G A missense_variant D267N 799G>A SKCM-US 9 82336705 82336705 single base substitution G A missense_variant D561N 1681G>A SKCM-US 9 82336705 82336705 single base substitution G A missense_variant D605N 1813G>A SKCM-US 9 82336705 82336705 single base substitution G A missense_variant D630N 1888G>A SKCM-US 9 82336705 82336705 single base substitution G A missense_variant D662N 1984G>A STAD-US 9 82227576 82227576 single base substitution G T 3_prime_UTR_variant STAD-US 9 82227576 82227576 single base substitution G T 5_prime_UTR_variant STAD-US 9 82227576 82227576 single base substitution G T exon_variant STAD-US 9 82227576 82227576 single base substitution G T intron_variant STAD-US 9 82227576 82227576 single base substitution G T missense_variant E71D 213G>T STAD-US 9 82227576 82227576 single base substitution G T missense_variant E84D 252G>T STAD-US 9 82227576 82227576 single base substitution G T missense_variant E86D 258G>T STAD-US 9 82242307 82242307 single base substitution C T 3_prime_UTR_variant STAD-US 9 82242307 82242307 single base substitution C T 5_prime_UTR_variant STAD-US 9 82242307 82242307 single base substitution C T exon_variant STAD-US 9 82242307 82242307 single base substitution C T intron_variant STAD-US 9 82242307 82242307 single base substitution C T stop_gained Q110* 328C>T STAD-US 9 82242307 82242307 single base substitution C T stop_gained Q112* 334C>T STAD-US 9 82242307 82242307 single base substitution C T stop_gained Q97* 289C>T STAD-US 9 82267586 82267586 insertion of <=200bp - C 3_prime_UTR_variant STAD-US 9 82267586 82267586 insertion of <=200bp - C 5_prime_UTR_variant STAD-US 9 82267586 82267586 insertion of <=200bp - C downstream_gene_variant STAD-US 9 82267586 82267586 insertion of <=200bp - C exon_variant STAD-US 9 82267586 82267586 insertion of <=200bp - C frameshift_variant P132P? STAD-US 9 82267586 82267586 insertion of <=200bp - C frameshift_variant P142P? STAD-US 9 82267586 82267586 insertion of <=200bp - C frameshift_variant P155P? STAD-US 9 82267586 82267586 insertion of <=200bp - C frameshift_variant P157P? STAD-US 9 82267586 82267586 insertion of <=200bp - C frameshift_variant P171P? STAD-US 9 82267586 82267586 insertion of <=200bp - C frameshift_variant P27P? STAD-US 9 82267586 82267586 insertion of <=200bp - C upstream_gene_variant STAD-US 9 82267638 82267638 single base substitution G C 3_prime_UTR_variant STAD-US 9 82267638 82267638 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant STAD-US 9 82267638 82267638 single base substitution G C downstream_gene_variant STAD-US 9 82267638 82267638 single base substitution G C exon_variant STAD-US 9 82267638 82267638 single base substitution G C missense_variant S149T 446G>C STAD-US 9 82267638 82267638 single base substitution G C missense_variant S159T 476G>C STAD-US 9 82267638 82267638 single base substitution G C missense_variant S172T 515G>C STAD-US 9 82267638 82267638 single base substitution G C missense_variant S174T 521G>C STAD-US 9 82267638 82267638 single base substitution G C missense_variant S188T 563G>C STAD-US 9 82267638 82267638 single base substitution G C missense_variant S44T 131G>C STAD-US 9 82321726 82321726 single base substitution G A 3_prime_UTR_variant STAD-US 9 82321726 82321726 single base substitution G A 5_prime_UTR_variant STAD-US 9 82321726 82321726 single base substitution G A exon_variant STAD-US 9 82321726 82321726 single base substitution G A intron_variant STAD-US 9 82321726 82321726 single base substitution G A missense_variant R15H 44G>A STAD-US 9 82321726 82321726 single base substitution G A missense_variant R258H 773G>A STAD-US 9 82321726 82321726 single base substitution G A missense_variant R283H 848G>A STAD-US 9 82321726 82321726 single base substitution G A missense_variant R73H 218G>A STAD-US 9 82321726 82321726 single base substitution G A upstream_gene_variant STAD-US 9 82322068 82322068 single base substitution C T intron_variant STAD-US 9 82322068 82322068 single base substitution C T missense_variant R257C 769C>T STAD-US 9 82322068 82322068 single base substitution C T missense_variant R323C 967C>T STAD-US 9 82322068 82322068 single base substitution C T missense_variant R55C 163C>T STAD-US 9 82322068 82322068 single base substitution C T upstream_gene_variant STAD-US 9 82322115 82322115 single base substitution T G intron_variant STAD-US 9 82322115 82322115 single base substitution T G missense_variant F272L 816T>G STAD-US 9 82322115 82322115 single base substitution T G missense_variant F338L 1014T>G STAD-US 9 82322115 82322115 single base substitution T G missense_variant F70L 210T>G STAD-US 9 82322115 82322115 single base substitution T G upstream_gene_variant STAD-US 9 82323081 82323081 single base substitution C A 3_prime_UTR_variant STAD-US 9 82323081 82323081 single base substitution C A 5_prime_UTR_variant STAD-US 9 82323081 82323081 single base substitution C A downstream_gene_variant STAD-US 9 82323081 82323081 single base substitution C A exon_variant STAD-US 9 82323081 82323081 single base substitution C A synonymous_variant R119R 355C>A STAD-US 9 82323081 82323081 single base substitution C A synonymous_variant R148R 442C>A STAD-US 9 82323081 82323081 single base substitution C A synonymous_variant R260R 778C>A STAD-US 9 82323081 82323081 single base substitution C A synonymous_variant R295R 883C>A STAD-US 9 82323081 82323081 single base substitution C A synonymous_variant R304R 910C>A STAD-US 9 82323081 82323081 single base substitution C A synonymous_variant R329R 985C>A STAD-US 9 82323081 82323081 single base substitution C A synonymous_variant R361R 1081C>A STAD-US 9 82323081 82323081 single base substitution C A synonymous_variant R57R 169C>A STAD-US 9 82323081 82323081 single base substitution C A synonymous_variant R93R 277C>A STAD-US 9 82323081 82323081 single base substitution C A upstream_gene_variant STAD-US 9 82323523 82323523 single base substitution C T 3_prime_UTR_variant STAD-US 9 82323523 82323523 single base substitution C T 5_prime_UTR_variant STAD-US 9 82323523 82323523 single base substitution C T downstream_gene_variant STAD-US 9 82323523 82323523 single base substitution C T exon_variant STAD-US 9 82323523 82323523 single base substitution C T missense_variant T126I 377C>T STAD-US 9 82323523 82323523 single base substitution C T missense_variant T152I 455C>T STAD-US 9 82323523 82323523 single base substitution C T missense_variant T181I 542C>T STAD-US 9 82323523 82323523 single base substitution C T missense_variant T293I 878C>T STAD-US 9 82323523 82323523 single base substitution C T missense_variant T337I 1010C>T STAD-US 9 82323523 82323523 single base substitution C T missense_variant T362I 1085C>T STAD-US 9 82323523 82323523 single base substitution C T missense_variant T394I 1181C>T STAD-US 9 82323523 82323523 single base substitution C T missense_variant T90I 269C>T STAD-US 9 82323572 82323572 single base substitution C A 3_prime_UTR_variant STAD-US 9 82323572 82323572 single base substitution C A downstream_gene_variant STAD-US 9 82323572 82323572 single base substitution C A exon_variant STAD-US 9 82323572 82323572 single base substitution C A synonymous_variant P106P 318C>A STAD-US 9 82323572 82323572 single base substitution C A synonymous_variant P142P 426C>A STAD-US 9 82323572 82323572 single base substitution C A synonymous_variant P15P 45C>A STAD-US 9 82323572 82323572 single base substitution C A synonymous_variant P168P 504C>A STAD-US 9 82323572 82323572 single base substitution C A synonymous_variant P197P 591C>A STAD-US 9 82323572 82323572 single base substitution C A synonymous_variant P309P 927C>A STAD-US 9 82323572 82323572 single base substitution C A synonymous_variant P353P 1059C>A STAD-US 9 82323572 82323572 single base substitution C A synonymous_variant P378P 1134C>A STAD-US 9 82323572 82323572 single base substitution C A synonymous_variant P410P 1230C>A STAD-US 9 82323650 82323650 single base substitution C T 3_prime_UTR_variant STAD-US 9 82323650 82323650 single base substitution C T downstream_gene_variant STAD-US 9 82323650 82323650 single base substitution C T exon_variant STAD-US 9 82323650 82323650 single base substitution C T synonymous_variant S132S 396C>T STAD-US 9 82323650 82323650 single base substitution C T synonymous_variant S168S 504C>T STAD-US 9 82323650 82323650 single base substitution C T synonymous_variant S194S 582C>T STAD-US 9 82323650 82323650 single base substitution C T synonymous_variant S223S 669C>T STAD-US 9 82323650 82323650 single base substitution C T synonymous_variant S335S 1005C>T STAD-US 9 82323650 82323650 single base substitution C T synonymous_variant S379S 1137C>T STAD-US 9 82323650 82323650 single base substitution C T synonymous_variant S404S 1212C>T STAD-US 9 82323650 82323650 single base substitution C T synonymous_variant S41S 123C>T STAD-US 9 82323650 82323650 single base substitution C T synonymous_variant S436S 1308C>T STAD-US 9 82323668 82323668 single base substitution C T 3_prime_UTR_variant STAD-US 9 82323668 82323668 single base substitution C T downstream_gene_variant STAD-US 9 82323668 82323668 single base substitution C T exon_variant STAD-US 9 82323668 82323668 single base substitution C T synonymous_variant A138A 414C>T STAD-US 9 82323668 82323668 single base substitution C T synonymous_variant A174A 522C>T STAD-US 9 82323668 82323668 single base substitution C T synonymous_variant A200A 600C>T STAD-US 9 82323668 82323668 single base substitution C T synonymous_variant A229A 687C>T STAD-US 9 82323668 82323668 single base substitution C T synonymous_variant A341A 1023C>T STAD-US 9 82323668 82323668 single base substitution C T synonymous_variant A385A 1155C>T STAD-US 9 82323668 82323668 single base substitution C T synonymous_variant A410A 1230C>T STAD-US 9 82323668 82323668 single base substitution C T synonymous_variant A442A 1326C>T STAD-US 9 82323668 82323668 single base substitution C T synonymous_variant A47A 141C>T STAD-US 9 82323671 82323671 single base substitution T C 3_prime_UTR_variant STAD-US 9 82323671 82323671 single base substitution T C downstream_gene_variant STAD-US 9 82323671 82323671 single base substitution T C exon_variant STAD-US 9 82323671 82323671 single base substitution T C synonymous_variant A139A 417T>C STAD-US 9 82323671 82323671 single base substitution T C synonymous_variant A175A 525T>C STAD-US 9 82323671 82323671 single base substitution T C synonymous_variant A201A 603T>C STAD-US 9 82323671 82323671 single base substitution T C synonymous_variant A230A 690T>C STAD-US 9 82323671 82323671 single base substitution T C synonymous_variant A342A 1026T>C STAD-US 9 82323671 82323671 single base substitution T C synonymous_variant A386A 1158T>C STAD-US 9 82323671 82323671 single base substitution T C synonymous_variant A411A 1233T>C STAD-US 9 82323671 82323671 single base substitution T C synonymous_variant A443A 1329T>C STAD-US 9 82323671 82323671 single base substitution T C synonymous_variant A48A 144T>C STAD-US 9 82333695 82333695 single base substitution G A 3_prime_UTR_variant STAD-US 9 82333695 82333695 single base substitution G A exon_variant STAD-US 9 82333695 82333695 single base substitution G A missense_variant D104N 310G>A STAD-US 9 82333695 82333695 single base substitution G A missense_variant D282N 844G>A STAD-US 9 82333695 82333695 single base substitution G A missense_variant D398N 1192G>A STAD-US 9 82333695 82333695 single base substitution G A missense_variant D442N 1324G>A STAD-US 9 82333695 82333695 single base substitution G A missense_variant D467N 1399G>A STAD-US 9 82333695 82333695 single base substitution G A missense_variant D499N 1495G>A STAD-US 9 82333808 82333808 single base substitution G A 3_prime_UTR_variant STAD-US 9 82333808 82333808 single base substitution G A exon_variant STAD-US 9 82333808 82333808 single base substitution G A synonymous_variant T141T 423G>A STAD-US 9 82333808 82333808 single base substitution G A synonymous_variant T319T 957G>A STAD-US 9 82333808 82333808 single base substitution G A synonymous_variant T435T 1305G>A STAD-US 9 82333808 82333808 single base substitution G A synonymous_variant T479T 1437G>A STAD-US 9 82333808 82333808 single base substitution G A synonymous_variant T504T 1512G>A STAD-US 9 82333808 82333808 single base substitution G A synonymous_variant T536T 1608G>A STAD-US 9 82335006 82335006 single base substitution C T 3_prime_UTR_variant STAD-US 9 82335006 82335006 single base substitution C T downstream_gene_variant STAD-US 9 82335006 82335006 single base substitution C T intron_variant STAD-US 9 82335006 82335006 single base substitution C T missense_variant R183C 547C>T STAD-US 9 82335006 82335006 single base substitution C T missense_variant R477C 1429C>T STAD-US 9 82335006 82335006 single base substitution C T missense_variant R521C 1561C>T STAD-US 9 82335006 82335006 single base substitution C T missense_variant R546C 1636C>T STAD-US 9 82335006 82335006 single base substitution C T missense_variant R578C 1732C>T STAD-US 9 82335100 82335100 deletion of <=200bp C - 3_prime_UTR_variant STAD-US 9 82335100 82335100 deletion of <=200bp C - downstream_gene_variant STAD-US 9 82335100 82335100 deletion of <=200bp C - frameshift_variant A214 STAD-US 9 82335100 82335100 deletion of <=200bp C - frameshift_variant A508 STAD-US 9 82335100 82335100 deletion of <=200bp C - frameshift_variant A552 STAD-US 9 82335100 82335100 deletion of <=200bp C - frameshift_variant A577 STAD-US 9 82335100 82335100 deletion of <=200bp C - frameshift_variant A609 STAD-US 9 82335100 82335100 deletion of <=200bp C - intron_variant STAD-US 9 82335151 82335163 deletion of <=200bp CATGCTGCAGCGA - 3_prime_UTR_variant STAD-US 9 82335151 82335163 deletion of <=200bp CATGCTGCAGCGA - downstream_gene_variant STAD-US 9 82335151 82335163 deletion of <=200bp CATGCTGCAGCGA - frameshift_variant SCCSD231 STAD-US 9 82335151 82335163 deletion of <=200bp CATGCTGCAGCGA - frameshift_variant SCCSD525 STAD-US 9 82335151 82335163 deletion of <=200bp CATGCTGCAGCGA - frameshift_variant SCCSD569 STAD-US 9 82335151 82335163 deletion of <=200bp CATGCTGCAGCGA - frameshift_variant SCCSD594 STAD-US 9 82335151 82335163 deletion of <=200bp CATGCTGCAGCGA - frameshift_variant SCCSD626 STAD-US 9 82335151 82335163 deletion of <=200bp CATGCTGCAGCGA - intron_variant STAD-US 9 82336771 82336771 single base substitution C T 3_prime_UTR_variant STAD-US 9 82336771 82336771 single base substitution C T downstream_gene_variant STAD-US 9 82336771 82336771 single base substitution C T intron_variant STAD-US 9 82336771 82336771 single base substitution C T missense_variant R289W 865C>T STAD-US 9 82336771 82336771 single base substitution C T missense_variant R583W 1747C>T STAD-US 9 82336771 82336771 single base substitution C T missense_variant R627W 1879C>T STAD-US 9 82336771 82336771 single base substitution C T missense_variant R652W 1954C>T STAD-US 9 82336771 82336771 single base substitution C T missense_variant R684W 2050C>T THCA-SA 9 82187095 82187095 single base substitution G A 5_prime_UTR_variant THCA-SA 9 82187095 82187095 single base substitution G A upstream_gene_variant THCA-SA 9 82336764 82336764 single base substitution C T 3_prime_UTR_variant THCA-SA 9 82336764 82336764 single base substitution C T downstream_gene_variant THCA-SA 9 82336764 82336764 single base substitution C T intron_variant THCA-SA 9 82336764 82336764 single base substitution C T synonymous_variant R286R 858C>T THCA-SA 9 82336764 82336764 single base substitution C T synonymous_variant R580R 1740C>T THCA-SA 9 82336764 82336764 single base substitution C T synonymous_variant R624R 1872C>T THCA-SA 9 82336764 82336764 single base substitution C T synonymous_variant R649R 1947C>T THCA-SA 9 82336764 82336764 single base substitution C T synonymous_variant R681R 2043C>T UCEC-US 9 82189838 82189838 single base substitution G A 5_prime_UTR_variant UCEC-US 9 82189838 82189838 single base substitution G A exon_variant UCEC-US 9 82189838 82189838 single base substitution G A missense_variant R50Q 149G>A UCEC-US 9 82189838 82189838 single base substitution G A missense_variant R63Q 188G>A UCEC-US 9 82189838 82189838 single base substitution G A missense_variant R65Q 194G>A UCEC-US 9 82189838 82189838 single base substitution G A upstream_gene_variant UCEC-US 9 82191127 82191127 single base substitution G A downstream_gene_variant UCEC-US 9 82191127 82191127 single base substitution G A exon_variant UCEC-US 9 82191127 82191127 single base substitution G A intron_variant UCEC-US 9 82191127 82191127 single base substitution G A upstream_gene_variant UCEC-US 9 82242327 82242327 single base substitution G A 3_prime_UTR_variant UCEC-US 9 82242327 82242327 single base substitution G A 5_prime_UTR_variant UCEC-US 9 82242327 82242327 single base substitution G A exon_variant UCEC-US 9 82242327 82242327 single base substitution G A intron_variant UCEC-US 9 82242327 82242327 single base substitution G A synonymous_variant K103K 309G>A UCEC-US 9 82242327 82242327 single base substitution G A synonymous_variant K116K 348G>A UCEC-US 9 82242327 82242327 single base substitution G A synonymous_variant K118K 354G>A UCEC-US 9 82264737 82264737 single base substitution G T downstream_gene_variant UCEC-US 9 82264737 82264737 single base substitution G T intron_variant UCEC-US 9 82264737 82264737 single base substitution G T missense_variant E131D 393G>T UCEC-US 9 82264737 82264737 single base substitution G T upstream_gene_variant UCEC-US 9 82319751 82319751 single base substitution C T 3_prime_UTR_variant UCEC-US 9 82319751 82319751 single base substitution C T 5_prime_UTR_variant UCEC-US 9 82319751 82319751 single base substitution C T exon_variant UCEC-US 9 82319751 82319751 single base substitution C T synonymous_variant N11N 33C>T UCEC-US 9 82319751 82319751 single base substitution C T synonymous_variant N18N 54C>T UCEC-US 9 82319751 82319751 single base substitution C T synonymous_variant N196N 588C>T UCEC-US 9 82319751 82319751 single base substitution C T synonymous_variant N206N 618C>T UCEC-US 9 82319751 82319751 single base substitution C T synonymous_variant N221N 663C>T UCEC-US 9 82319751 82319751 single base substitution C T synonymous_variant N91N 273C>T UCEC-US 9 82319751 82319751 single base substitution C T upstream_gene_variant UCEC-US 9 82319765 82319765 single base substitution C T 3_prime_UTR_variant UCEC-US 9 82319765 82319765 single base substitution C T 5_prime_UTR_variant UCEC-US 9 82319765 82319765 single base substitution C T exon_variant UCEC-US 9 82319765 82319765 single base substitution C T missense_variant S16F 47C>T UCEC-US 9 82319765 82319765 single base substitution C T missense_variant S201F 602C>T UCEC-US 9 82319765 82319765 single base substitution C T missense_variant S211F 632C>T UCEC-US 9 82319765 82319765 single base substitution C T missense_variant S226F 677C>T UCEC-US 9 82319765 82319765 single base substitution C T missense_variant S23F 68C>T UCEC-US 9 82319765 82319765 single base substitution C T missense_variant S96F 287C>T UCEC-US 9 82319765 82319765 single base substitution C T upstream_gene_variant UCEC-US 9 82319777 82319777 single base substitution A G 3_prime_UTR_variant UCEC-US 9 82319777 82319777 single base substitution A G 5_prime_UTR_variant UCEC-US 9 82319777 82319777 single base substitution A G exon_variant UCEC-US 9 82319777 82319777 single base substitution A G missense_variant K100R 299A>G UCEC-US 9 82319777 82319777 single base substitution A G missense_variant K205R 614A>G UCEC-US 9 82319777 82319777 single base substitution A G missense_variant K20R 59A>G UCEC-US 9 82319777 82319777 single base substitution A G missense_variant K215R 644A>G UCEC-US 9 82319777 82319777 single base substitution A G missense_variant K230R 689A>G UCEC-US 9 82319777 82319777 single base substitution A G missense_variant K27R 80A>G UCEC-US 9 82319777 82319777 single base substitution A G upstream_gene_variant UCEC-US 9 82319812 82319812 single base substitution C T 3_prime_UTR_variant UCEC-US 9 82319812 82319812 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 9 82319812 82319812 single base substitution C T exon_variant UCEC-US 9 82319812 82319812 single base substitution C T missense_variant R112C 334C>T UCEC-US 9 82319812 82319812 single base substitution C T missense_variant R217C 649C>T UCEC-US 9 82319812 82319812 single base substitution C T missense_variant R227C 679C>T UCEC-US 9 82319812 82319812 single base substitution C T missense_variant R242C 724C>T UCEC-US 9 82319812 82319812 single base substitution C T missense_variant R32C 94C>T UCEC-US 9 82319812 82319812 single base substitution C T missense_variant R39C 115C>T UCEC-US 9 82319812 82319812 single base substitution C T upstream_gene_variant UCEC-US 9 82321747 82321747 single base substitution C T 3_prime_UTR_variant UCEC-US 9 82321747 82321747 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 9 82321747 82321747 single base substitution C T exon_variant UCEC-US 9 82321747 82321747 single base substitution C T intron_variant UCEC-US 9 82321747 82321747 single base substitution C T missense_variant P22L 65C>T UCEC-US 9 82321747 82321747 single base substitution C T missense_variant P265L 794C>T UCEC-US 9 82321747 82321747 single base substitution C T missense_variant P290L 869C>T UCEC-US 9 82321747 82321747 single base substitution C T missense_variant P80L 239C>T UCEC-US 9 82321747 82321747 single base substitution C T upstream_gene_variant UCEC-US 9 82321803 82321803 single base substitution G T 3_prime_UTR_variant UCEC-US 9 82321803 82321803 single base substitution G T 5_prime_UTR_variant UCEC-US 9 82321803 82321803 single base substitution G T exon_variant UCEC-US 9 82321803 82321803 single base substitution G T intron_variant UCEC-US 9 82321803 82321803 single base substitution G T stop_gained E284* 850G>T UCEC-US 9 82321803 82321803 single base substitution G T stop_gained E309* 925G>T UCEC-US 9 82321803 82321803 single base substitution G T stop_gained E41* 121G>T UCEC-US 9 82321803 82321803 single base substitution G T stop_gained E99* 295G>T UCEC-US 9 82321803 82321803 single base substitution G T upstream_gene_variant UCEC-US 9 82322053 82322053 single base substitution A T intron_variant UCEC-US 9 82322053 82322053 single base substitution A T stop_gained K252* 754A>T UCEC-US 9 82322053 82322053 single base substitution A T stop_gained K318* 952A>T UCEC-US 9 82322053 82322053 single base substitution A T stop_gained K50* 148A>T UCEC-US 9 82322053 82322053 single base substitution A T upstream_gene_variant UCEC-US 9 82323521 82323521 single base substitution G T 3_prime_UTR_variant UCEC-US 9 82323521 82323521 single base substitution G T 5_prime_UTR_variant UCEC-US 9 82323521 82323521 single base substitution G T downstream_gene_variant UCEC-US 9 82323521 82323521 single base substitution G T exon_variant UCEC-US 9 82323521 82323521 single base substitution G T missense_variant R125S 375G>T UCEC-US 9 82323521 82323521 single base substitution G T missense_variant R151S 453G>T UCEC-US 9 82323521 82323521 single base substitution G T missense_variant R180S 540G>T UCEC-US 9 82323521 82323521 single base substitution G T missense_variant R292S 876G>T UCEC-US 9 82323521 82323521 single base substitution G T missense_variant R336S 1008G>T UCEC-US 9 82323521 82323521 single base substitution G T missense_variant R361S 1083G>T UCEC-US 9 82323521 82323521 single base substitution G T missense_variant R393S 1179G>T UCEC-US 9 82323521 82323521 single base substitution G T missense_variant R89S 267G>T UCEC-US 9 82323614 82323614 single base substitution C A 3_prime_UTR_variant UCEC-US 9 82323614 82323614 single base substitution C A downstream_gene_variant UCEC-US 9 82323614 82323614 single base substitution C A exon_variant UCEC-US 9 82323614 82323614 single base substitution C A synonymous_variant A120A 360C>A UCEC-US 9 82323614 82323614 single base substitution C A synonymous_variant A156A 468C>A UCEC-US 9 82323614 82323614 single base substitution C A synonymous_variant A182A 546C>A UCEC-US 9 82323614 82323614 single base substitution C A synonymous_variant A211A 633C>A UCEC-US 9 82323614 82323614 single base substitution C A synonymous_variant A29A 87C>A UCEC-US 9 82323614 82323614 single base substitution C A synonymous_variant A323A 969C>A UCEC-US 9 82323614 82323614 single base substitution C A synonymous_variant A367A 1101C>A UCEC-US 9 82323614 82323614 single base substitution C A synonymous_variant A392A 1176C>A UCEC-US 9 82323614 82323614 single base substitution C A synonymous_variant A424A 1272C>A UCEC-US 9 82323671 82323671 single base substitution T C 3_prime_UTR_variant UCEC-US 9 82323671 82323671 single base substitution T C downstream_gene_variant UCEC-US 9 82323671 82323671 single base substitution T C exon_variant UCEC-US 9 82323671 82323671 single base substitution T C synonymous_variant A139A 417T>C UCEC-US 9 82323671 82323671 single base substitution T C synonymous_variant A175A 525T>C UCEC-US 9 82323671 82323671 single base substitution T C synonymous_variant A201A 603T>C UCEC-US 9 82323671 82323671 single base substitution T C synonymous_variant A230A 690T>C UCEC-US 9 82323671 82323671 single base substitution T C synonymous_variant A342A 1026T>C UCEC-US 9 82323671 82323671 single base substitution T C synonymous_variant A386A 1158T>C UCEC-US 9 82323671 82323671 single base substitution T C synonymous_variant A411A 1233T>C UCEC-US 9 82323671 82323671 single base substitution T C synonymous_variant A443A 1329T>C UCEC-US 9 82323671 82323671 single base substitution T C synonymous_variant A48A 144T>C UCEC-US 9 82324561 82324561 single base substitution C T 3_prime_UTR_variant UCEC-US 9 82324561 82324561 single base substitution C T downstream_gene_variant UCEC-US 9 82324561 82324561 single base substitution C T exon_variant UCEC-US 9 82324561 82324561 single base substitution C T synonymous_variant H157H 471C>T UCEC-US 9 82324561 82324561 single base substitution C T synonymous_variant H193H 579C>T UCEC-US 9 82324561 82324561 single base substitution C T synonymous_variant H219H 657C>T UCEC-US 9 82324561 82324561 single base substitution C T synonymous_variant H360H 1080C>T UCEC-US 9 82324561 82324561 single base substitution C T synonymous_variant H404H 1212C>T UCEC-US 9 82324561 82324561 single base substitution C T synonymous_variant H429H 1287C>T UCEC-US 9 82324561 82324561 single base substitution C T synonymous_variant H461H 1383C>T UCEC-US 9 82324561 82324561 single base substitution C T synonymous_variant H66H 198C>T UCEC-US 9 82324604 82324604 single base substitution G T 3_prime_UTR_variant UCEC-US 9 82324604 82324604 single base substitution G T downstream_gene_variant UCEC-US 9 82324604 82324604 single base substitution G T exon_variant UCEC-US 9 82324604 82324604 single base substitution G T stop_gained G208* 622G>T UCEC-US 9 82324604 82324604 single base substitution G T stop_gained G234* 700G>T UCEC-US 9 82324604 82324604 single base substitution G T stop_gained G375* 1123G>T UCEC-US 9 82324604 82324604 single base substitution G T stop_gained G419* 1255G>T UCEC-US 9 82324604 82324604 single base substitution G T stop_gained G444* 1330G>T UCEC-US 9 82324604 82324604 single base substitution G T stop_gained G476* 1426G>T UCEC-US 9 82324604 82324604 single base substitution G T stop_gained G81* 241G>T UCEC-US 9 82333698 82333698 single base substitution G A 3_prime_UTR_variant UCEC-US 9 82333698 82333698 single base substitution G A exon_variant UCEC-US 9 82333698 82333698 single base substitution G A missense_variant A105T 313G>A UCEC-US 9 82333698 82333698 single base substitution G A missense_variant A283T 847G>A UCEC-US 9 82333698 82333698 single base substitution G A missense_variant A399T 1195G>A UCEC-US 9 82333698 82333698 single base substitution G A missense_variant A443T 1327G>A UCEC-US 9 82333698 82333698 single base substitution G A missense_variant A468T 1402G>A UCEC-US 9 82333698 82333698 single base substitution G A missense_variant A500T 1498G>A UCEC-US 9 82334975 82334975 single base substitution C T 3_prime_UTR_variant UCEC-US 9 82334975 82334975 single base substitution C T downstream_gene_variant UCEC-US 9 82334975 82334975 single base substitution C T intron_variant UCEC-US 9 82334975 82334975 single base substitution C T synonymous_variant Y172Y 516C>T UCEC-US 9 82334975 82334975 single base substitution C T synonymous_variant Y466Y 1398C>T UCEC-US 9 82334975 82334975 single base substitution C T synonymous_variant Y510Y 1530C>T UCEC-US 9 82334975 82334975 single base substitution C T synonymous_variant Y535Y 1605C>T UCEC-US 9 82334975 82334975 single base substitution C T synonymous_variant Y567Y 1701C>T UCEC-US 9 82335194 82335194 single base substitution C T 3_prime_UTR_variant UCEC-US 9 82335194 82335194 single base substitution C T downstream_gene_variant UCEC-US 9 82335194 82335194 single base substitution C T intron_variant UCEC-US 9 82335194 82335194 single base substitution C T synonymous_variant N245N 735C>T UCEC-US 9 82335194 82335194 single base substitution C T synonymous_variant N539N 1617C>T UCEC-US 9 82335194 82335194 single base substitution C T synonymous_variant N583N 1749C>T UCEC-US 9 82335194 82335194 single base substitution C T synonymous_variant N608N 1824C>T UCEC-US 9 82335194 82335194 single base substitution C T synonymous_variant N640N 1920C>T UCEC-US 9 82337458 82337458 single base substitution C T 3_prime_UTR_variant UCEC-US 9 82337458 82337458 single base substitution C T downstream_gene_variant UCEC-US 9 82337458 82337458 single base substitution C T exon_variant UCEC-US 9 82337458 82337458 single base substitution C T synonymous_variant D330D 990C>T UCEC-US 9 82337458 82337458 single base substitution C T synonymous_variant D624D 1872C>T UCEC-US 9 82337458 82337458 single base substitution C T synonymous_variant D668D 2004C>T UCEC-US 9 82337458 82337458 single base substitution C T synonymous_variant D693D 2079C>T UCEC-US 9 82337458 82337458 single base substitution C T synonymous_variant D725D 2175C>T UCEC-US 9 82337464 82337464 single base substitution C T 3_prime_UTR_variant UCEC-US 9 82337464 82337464 single base substitution C T downstream_gene_variant UCEC-US 9 82337464 82337464 single base substitution C T exon_variant UCEC-US 9 82337464 82337464 single base substitution C T synonymous_variant Y332Y 996C>T UCEC-US 9 82337464 82337464 single base substitution C T synonymous_variant Y626Y 1878C>T UCEC-US 9 82337464 82337464 single base substitution C T synonymous_variant Y670Y 2010C>T UCEC-US 9 82337464 82337464 single base substitution C T synonymous_variant Y695Y 2085C>T UCEC-US 9 82337464 82337464 single base substitution C T synonymous_variant Y727Y 2181C>T UCEC-US 9 82337915 82337915 single base substitution G A 3_prime_UTR_variant UCEC-US 9 82337915 82337915 single base substitution G A downstream_gene_variant UCEC-US 9 82337915 82337915 single base substitution G A missense_variant A364T 1090G>A UCEC-US 9 82337915 82337915 single base substitution G A missense_variant A658T 1972G>A UCEC-US 9 82337915 82337915 single base substitution G A missense_variant A702T 2104G>A UCEC-US 9 82337915 82337915 single base substitution G A missense_variant A727T 2179G>A UCEC-US 9 82337915 82337915 single base substitution G A missense_variant A759T 2275G>A UCEC-US 9 82339958 82339958 single base substitution G T 3_prime_UTR_variant UCEC-US 9 82339958 82339958 single base substitution G T downstream_gene_variant UCEC-US 9 82339958 82339958 single base substitution G T stop_gained E378* 1132G>T UCEC-US 9 82339958 82339958 single base substitution G T stop_gained E672* 2014G>T UCEC-US 9 82339958 82339958 single base substitution G T stop_gained E716* 2146G>T UCEC-US 9 82339958 82339958 single base substitution G T stop_gained E741* 2221G>T UCEC-US 9 82339958 82339958 single base substitution G T stop_gained E773* 2317G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 07-35482 COSM220531 c.1856C>T p.T619I Substitution - Missense 9:79721758-79721758 + LUAD-B01811 COSM334949 c.1042G>T p.G348* Substitution - Nonsense 9:79708223-79708223 + HCC108T COSM1625145 c.299C>T p.P100L Substitution - Missense 9:79612702-79612702 + 61 COSM5738630 c.2297C>A p.A766D Substitution - Missense 9:79725119-79725119 + I2L-P19Ta-Tumor-Biopsy COSM4611250 c.688delA p.K231fs*49 Deletion - Frameshift 9:79704861-79704861 + 6115237 COSM5562532 c.1340C>A p.P447Q Substitution - Missense 9:79709699-79709699 + HCT15 COSM4626478 c.1236T>C p.A412A Substitution - coding silent 9:79708759-79708759 + HCC94 COSM1625151 c.1931G>T p.R644M Substitution - Missense 9:79721833-79721833 + I2L-P19Tb-Tumor-Organoid COSM5359384 c.541C>A p.H181N Substitution - Missense 9:79652743-79652743 + 66 COSM5743341 c.2215-2A>T p.? Unknown 9:79725035-79725035 + RK308_C01 COSM3746061 c.102G>A p.R34R Substitution - coding silent 9:79573745-79573745 + CSCC-55-T COSM4557373 c.725G>A p.R242H Substitution - Missense 9:79704898-79704898 + LUAD-S01478 COSM400113 c.2278_2279GG>TT p.G760>? Complex 9:79725100-79725101 + TCGA-AA-3715-01 COSM270345 c.473C>T p.P158L Substitution - Missense 9:79652675-79652675 + ACINAR29 COSM1735466 c.893C>T p.S298F Substitution - Missense 9:79706856-79706856 + TCGA-AP-A051-01 COSM1110395 c.1824C>T p.N608N Substitution - coding silent 9:79720279-79720279 + TCGA-BR-8080-01 COSM3908236 c.985C>A p.R329R Substitution - coding silent 9:79708166-79708166 + sysucc-1397T COSM1110385 c.1233T>C p.A411A Substitution - coding silent 9:79708756-79708756 + 8016470 COSM3395871 c.103A>T p.I35F Substitution - Missense 9:79573746-79573746 + SJHYPO052 COSM4775895 c.1562A>G p.K521R Substitution - Missense 9:79718943-79718943 + C008 COSM5524012 c.1448C>T p.T483I Substitution - Missense 9:79718829-79718829 + CHC892T COSM4798627 c.195G>A p.R65R Substitution - coding silent 9:79574924-79574924 + TCGA-AA-A010-01 COSM285742 c.729+6T>G p.? Unknown 9:79704908-79704908 + TCGA-AZ-6601-01 COSM1229346 c.1292G>A p.R431H Substitution - Missense 9:79709651-79709651 + Pat_37_B COSM5876438 c.1424C>T p.P475L Substitution - Missense 9:79718805-79718805 + T24 COSM5345797 c.667G>A p.A223T Substitution - Missense 9:79704840-79704840 + LUAD-CHTN-MAD06-00668 COSM360507 c.1703G>T p.R568L Substitution - Missense 9:79720158-79720158 + pfg122T COSM1463154 c.1703G>A p.R568H Substitution - Missense 9:79720158-79720158 + LUAD-CHTN-Z4716A COSM362653 c.2061G>T p.L687F Substitution - Missense 9:79722525-79722525 + Pat_36_B COSM2153406 c.1511C>T p.T504M Substitution - Missense 9:79718892-79718892 + TCGA-19-2629-01 COSM3413748 c.282C>T p.I94I Substitution - coding silent 9:79612685-79612685 + HN_62739 COSM79299 c.640C>T p.R214* Substitution - Nonsense 9:79704813-79704813 + TCGA-EI-6882-01 COSM3433274 c.258G>T p.E86D Substitution - Missense 9:79612661-79612661 + PT51 COSM5938243 c.2086C>T p.Q696* Substitution - Nonsense 9:79722550-79722550 + 8067216 COSM3780780 c.1223C>A p.A408D Substitution - Missense 9:79708746-79708746 + LP6007404-DNA_A01 COSM3908232 c.848G>A p.R283H Substitution - Missense 9:79706811-79706811 + TCGA-BR-6452-01 COSM3908228 c.334C>T p.Q112* Substitution - Nonsense 9:79627392-79627392 + I2L-P25-Tumor-Organoid COSM5359481 c.494G>C p.S165T Substitution - Missense 9:79652696-79652696 + T3724 COSM4733926 c.1132C>T p.P378S Substitution - Missense 9:79708655-79708655 + TCGA-BR-4184-01 COSM3433274 c.258G>T p.E86D Substitution - Missense 9:79612661-79612661 + TCGA-EE-A3AD-06 COSM3658658 c.348G>A p.R116R Substitution - coding silent 9:79627406-79627406 + sysucc-311T COSM5467760 c.1263+6T>C p.? Unknown 9:79708792-79708792 + 103595 COSM95341 c.949A>G p.T317A Substitution - Missense 9:79708130-79708130 + S0029 COSM5884882 c.976C>T p.P326S Substitution - Missense 9:79708157-79708157 + B23 COSM1756233 c.658A>C p.R220R Substitution - coding silent 9:79704831-79704831 + TCGA-BP-4963-01 COSM487586 c.1389T>C p.P463P Substitution - coding silent 9:79718770-79718770 + LUAD-NYU184 COSM370949 c.1462G>C p.E488Q Substitution - Missense 9:79718843-79718843 + Pat_06_A COSM5876434 c.390+1G>A p.? Unknown 9:79627449-79627449 + LS411 COSM3218601 c.207G>A p.M69I Substitution - Missense 9:79574936-79574936 + TCGA-B5-A0JY-01 COSM1110403 c.2221G>T p.E741* Substitution - Nonsense 9:79725043-79725043 + 215 COSM4424598 c.858G>A p.K286K Substitution - coding silent 9:79706821-79706821 + 587376 COSM1229350 c.74A>C p.K25T Substitution - Missense 9:79573717-79573717 + HCC94T COSM1625151 c.1931G>T p.R644M Substitution - Missense 9:79721833-79721833 + TCGA-06-0238-01 COSM1229346 c.1292G>A p.R431H Substitution - Missense 9:79709651-79709651 + WA28 COSM241911 c.50C>G p.P17R Substitution - Missense 9:79573693-79573693 + T578 COSM3658671 c.986G>A p.R329Q Substitution - Missense 9:79708167-79708167 + TCGA-G4-6588-01 COSM1463154 c.1703G>A p.R568H Substitution - Missense 9:79720158-79720158 + BD236T COSM5518892 c.1291C>T p.R431C Substitution - Missense 9:79709650-79709650 + B23-Tumor COSM1756233 c.658A>C p.R220R Substitution - coding silent 9:79704831-79704831 + TCGA-IR-A3LA-01 COSM4844843 c.991G>A p.D331N Substitution - Missense 9:79708172-79708172 + Pat_45_B COSM5876440 c.1664G>A p.S555N Substitution - Missense 9:79720119-79720119 + HCC061T COSM5805581 c.1735G>T p.A579S Substitution - Missense 9:79720190-79720190 + TCGA-AP-A0LM-01 COSM1110387 c.1287C>T p.H429H Substitution - coding silent 9:79709646-79709646 + 2492730 COSM5728871 c.1097T>C p.V366A Substitution - Missense 9:79708620-79708620 + ESO-717 COSM1242926 c.1954C>T p.R652W Substitution - Missense 9:79721856-79721856 + LUAD-CHTN-MAD06-00668 COSM360509 c.1795G>T p.G599C Substitution - Missense 9:79720250-79720250 + OSCC-GB_01230111 COSM5955421 c.2260G>A p.D754N Substitution - Missense 9:79725082-79725082 + Patient_2_Relapse COSM5415110 c.2252C>T p.S751F Substitution - Missense 9:79725074-79725074 + 35M COSM5582762 c.1462G>A p.E488K Substitution - Missense 9:79718843-79718843 + T3340 COSM4733918 c.87C>G p.S29S Substitution - coding silent 9:79573730-79573730 + TCGA-BS-A0TJ-01 COSM1110369 c.435C>T p.P145P Substitution - coding silent 9:79652637-79652637 + RKO COSM4649345 c.350C>G p.A117G Substitution - Missense 9:79627408-79627408 + DLBCL-PatientB COSM220258 c.728A>C p.Y243S Substitution - Missense 9:79704901-79704901 + TCGA-EE-A2MS-06 COSM3658678 c.1298C>T p.P433L Substitution - Missense 9:79709657-79709657 + ESO-191 COSM1267883 c.2123A>C p.K708T Substitution - Missense 9:79722587-79722587 + Pat_41_B COSM5876436 c.1370G>A p.G457D Substitution - Missense 9:79718751-79718751 + TCGA-FS-A1ZZ-06 COSM3658676 c.1281C>T p.H427H Substitution - coding silent 9:79709640-79709640 + TCGA-G9-6364-01 COSM1132448 c.735C>T p.S245S Substitution - coding silent 9:79705894-79705894 + ESCC_162 COSM5647959 c.1945C>T p.R649C Substitution - Missense 9:79721847-79721847 + TCGA-D3-A5GN-06 COSM3658656 c.93C>T p.S31S Substitution - coding silent 9:79573736-79573736 + TCGA-G3-A7M9-01 COSM4922715 c.424C>A p.H142N Substitution - Missense 9:79652626-79652626 + TCGA-B5-A11U-01 COSM1110385 c.1233T>C p.A411A Substitution - coding silent 9:79708756-79708756 + TCGA-AP-A051-01 COSM1110367 c.354G>A p.K118K Substitution - coding silent 9:79627412-79627412 + S0029 COSM5884884 c.977C>T p.P326L Substitution - Missense 9:79708158-79708158 + ccRCC-102 COSM1665811 c.108delG p.E37fs*13 Deletion - Frameshift 9:79573751-79573751 + TCGA-BR-6802-01 COSM1110385 c.1233T>C p.A411A Substitution - coding silent 9:79708756-79708756 + TCGA-D3-A51G-06 COSM3658671 c.986G>A p.R329Q Substitution - Missense 9:79708167-79708167 + B101-Tumor COSM285741 c.193C>T p.R65W Substitution - Missense 9:79574922-79574922 + SM-4B295 COSM4413273 c.1338A>C p.K446N Substitution - Missense 9:79709697-79709697 + 103639 COSM95340 c.859A>C p.K287Q Substitution - Missense 9:79706822-79706822 + TCGA-HF-7132-01 COSM3658682 c.1399G>A p.D467N Substitution - Missense 9:79718780-79718780 + TCGA-DA-A1I4-06 COSM1110375 c.724C>T p.R242C Substitution - Missense 9:79704897-79704897 + SS6003317 COSM3849434 c.1895C>T p.T632I Substitution - Missense 9:79721797-79721797 + 520 COSM5612129 c.290A>T p.Q97L Substitution - Missense 9:79612693-79612693 + 1T COSM110481 c.1636C>T p.R546C Substitution - Missense 9:79720091-79720091 + TCGA-D3-A2J8-06 COSM3658660 c.434C>T p.P145L Substitution - Missense 9:79652636-79652636 + SC_9081 COSM5550094 c.1476G>A p.A492A Substitution - coding silent 9:79718857-79718857 + S02299 COSM5691003 c.1202C>G p.P401R Substitution - Missense 9:79708725-79708725 + LUAD-YINHD COSM351893 c.677C>T p.S226F Substitution - Missense 9:79704850-79704850 + AOCS-094-6-X COSM4149499 c.1803C>G p.I601M Substitution - Missense 9:79720258-79720258 + SNU-175 COSM3218696 c.1971C>T p.H657H Substitution - coding silent 9:79721873-79721873 + TCGA-AA-3811-01 COSM293792 c.1156C>T p.L386L Substitution - coding silent 9:79708679-79708679 + KPOPBR-49-T COSM5963439 c.1937G>A p.W646* Substitution - Nonsense 9:79721839-79721839 + DLD1 COSM1110385 c.1233T>C p.A411A Substitution - coding silent 9:79708756-79708756 + TCGA-D1-A101-01 COSM1110383 c.1176C>A p.A392A Substitution - coding silent 9:79708699-79708699 + HCC82 COSM1625149 c.966G>C p.K322N Substitution - Missense 9:79708147-79708147 + TCGA-AX-A0J0-01 COSM1110379 c.925G>T p.E309* Substitution - Nonsense 9:79706888-79706888 + 3N27-VS-3T27 COSM197087 c.331G>A p.V111M Substitution - Missense 9:79627389-79627389 + TCGA-DA-A1HV-06 COSM3658686 c.1888G>A p.D630N Substitution - Missense 9:79721790-79721790 + tumor_4163639 COSM1161785 c.1867A>G p.S623G Substitution - Missense 9:79721769-79721769 + 3206A7_017_T COSM5040922 c.1471T>C p.C491R Substitution - Missense 9:79718852-79718852 + CSCC-49-T COSM4465998 c.1410C>T p.I470I Substitution - coding silent 9:79718791-79718791 + TCGA-EE-A2M8-06 COSM3658662 c.527T>C p.L176P Substitution - Missense 9:79652729-79652729 + ESO-114 COSM1267882 c.610-2A>T p.? Unknown 9:79704781-79704781 + LUAD-S00486 COSM343387 c.2292G>C p.K764N Substitution - Missense 9:79725114-79725114 + C135 COSM4611250 c.688delA p.K231fs*49 Deletion - Frameshift 9:79704861-79704861 + RK308_C01 COSM3746063 c.121T>G p.F41V Substitution - Missense 9:79573764-79573764 + T3254 COSM4733920 c.108G>A p.K36K Substitution - coding silent 9:79573751-79573751 + HCC108 COSM1625145 c.299C>T p.P100L Substitution - Missense 9:79612702-79612702 + TCGA-A8-A0A6-01 COSM3848889 c.741T>G p.G247G Substitution - coding silent 9:79705900-79705900 + CHC1708T COSM4952371 c.1012A>T p.N338Y Substitution - Missense 9:79708193-79708193 + CRC-02T COSM5455795 c.1986+2T>C p.? Unknown 9:79721890-79721890 + YUTUCO COSM1110375 c.724C>T p.R242C Substitution - Missense 9:79704897-79704897 + CSCC-56-T COSM3218670 c.1609C>T p.R537C Substitution - Missense 9:79720064-79720064 + SNU-175 COSM3218658 c.1436G>A p.R479H Substitution - Missense 9:79718817-79718817 + BD124T COSM5492514 c.576C>A p.D192E Substitution - Missense 9:79652778-79652778 + TCGA-FW-A3R5-06 COSM3927059 c.1256C>T p.S419L Substitution - Missense 9:79708779-79708779 + PA182 COSM1162627 c.2107T>C p.C703R Substitution - Missense 9:79722571-79722571 + TCGA-AP-A0LM-01 COSM1110375 c.724C>T p.R242C Substitution - Missense 9:79704897-79704897 + T3152 COSM2153406 c.1511C>T p.T504M Substitution - Missense 9:79718892-79718892 + PCSI_0083_Pa_P_526 COSM1110385 c.1233T>C p.A411A Substitution - coding silent 9:79708756-79708756 + TCGA-BK-A0C9-01 COSM1110391 c.1402G>A p.A468T Substitution - Missense 9:79718783-79718783 + TCGA-AZ-4315-01 COSM1463141 c.220T>C p.S74P Substitution - Missense 9:79576145-79576145 + TCGA-EE-A2M5-06 COSM3658684 c.1412G>A p.G471E Substitution - Missense 9:79718793-79718793 + 61 COSM5738628 c.511G>A p.A171T Substitution - Missense 9:79652713-79652713 + MD-204 COSM303389 c.558T>G p.D186E Substitution - Missense 9:79652760-79652760 + 702TS COSM673980 c.1987-1G>C p.? Unknown 9:79722450-79722450 + B89-12 COSM1756235 c.2195A>G p.Y732C Substitution - Missense 9:79723016-79723016 + CHC1708T COSM4952371 c.1012A>T p.N338Y Substitution - Missense 9:79708193-79708193 + TCGA-AG-A01W-01 COSM290212 c.50C>A p.P17Q Substitution - Missense 9:79573693-79573693 + BD124T COSM4413273 c.1338A>C p.K446N Substitution - Missense 9:79709697-79709697 + SNU-175 COSM3218692 c.1925C>T p.T642M Substitution - Missense 9:79721827-79721827 + TCGA-J4-A67Q-01 COSM4393472 c.2228C>T p.S743L Substitution - Missense 9:79725050-79725050 + PT39 COSM5923469 c.729+8C>T p.? Unknown 9:79704910-79704910 + 1N31-VS-1T31 COSM4974466 c.962C>G p.S321* Substitution - Nonsense 9:79708143-79708143 + 587224 COSM1229344 c.241A>T p.M81L Substitution - Missense 9:79576166-79576166 + TCGA-EI-6917-01 COSM3433276 c.2316T>G p.I772M Substitution - Missense 9:79725138-79725138 + 026T COSM1728164 c.1435C>T p.R479C Substitution - Missense 9:79718816-79718816 + TCGA-A2-A0YG-01 COSM456119 c.264C>T p.V88V Substitution - coding silent 9:79612667-79612667 + CHEWS014 COSM4588968 c.495C>T p.S165S Substitution - coding silent 9:79652697-79652697 + GHE0624 COSM754121 c.742G>T p.E248* Substitution - Nonsense 9:79705901-79705901 + TCGA-FR-A3YO-06 COSM3658682 c.1399G>A p.D467N Substitution - Missense 9:79718780-79718780 + CSCC-44-T COSM4472764 c.1803C>T p.I601I Substitution - coding silent 9:79720258-79720258 + NPC2F COSM4997080 c.933C>A p.S311R Substitution - Missense 9:79706896-79706896 + I2L-P19Ta-Tumor-Organoid COSM4611250 c.688delA p.K231fs*49 Deletion - Frameshift 9:79704861-79704861 + TCGA-AG-A002-01 COSM264046 c.1902C>A p.L634L Substitution - coding silent 9:79721804-79721804 + TCGA-06-0875 COSM2152007 c.467_468delAG p.Q156fs*9 Deletion - Frameshift 9:79652669-79652670 + 105301 COSM96234 c.639C>T p.F213F Substitution - coding silent 9:79704812-79704812 + B101 COSM285741 c.193C>T p.R65W Substitution - Missense 9:79574922-79574922 + pfg016T COSM1643884 c.1522G>A p.G508S Substitution - Missense 9:79718903-79718903 + HCC53T COSM1625147 c.316-4A>G p.? Unknown 9:79627370-79627370 + ACINAR28 COSM1735468 c.1526G>A p.C509Y Substitution - Missense 9:79718907-79718907 + TCGA-EE-A2MS-06 COSM3658666 c.794C>T p.S265F Substitution - Missense 9:79706757-79706757 + HCC2998 COSM1110403 c.2221G>T p.E741* Substitution - Nonsense 9:79725043-79725043 + CSCC-60-T COSM4494484 c.433C>T p.P145S Substitution - Missense 9:79652635-79652635 + PD8998a COSM5769538 c.2288A>G p.D763G Substitution - Missense 9:79725110-79725110 + TCGA-BF-A3DL-01 COSM4904652 c.431T>G p.L144R Substitution - Missense 9:79652633-79652633 + DN111A7 COSM5769538 c.2288A>G p.D763G Substitution - Missense 9:79725110-79725110 + TCGA-G2-A2EJ-01 COSM1314945 c.1836G>A p.V612V Substitution - coding silent 9:79720291-79720291 + S00825 COSM5659329 c.633C>T p.A211A Substitution - coding silent 9:79704806-79704806 + 46M COSM5589152 c.1452C>T p.L484L Substitution - coding silent 9:79718833-79718833 + TCGA-IR-A3LK-01 COSM4818315 c.1197C>G p.I399M Substitution - Missense 9:79708720-79708720 + TCGA-AP-A0LM-01 COSM351893 c.677C>T p.S226F Substitution - Missense 9:79704850-79704850 + TCGA-EE-A2A6-06 COSM3658664 c.570C>T p.H190H Substitution - coding silent 9:79652772-79652772 + TCGA-06-5859-01 COSM2153406 c.1511C>T p.T504M Substitution - Missense 9:79718892-79718892 + ACINAR28 COSM1735470 c.1735G>A p.A579T Substitution - Missense 9:79720190-79720190 + DLBCL-PatientB COSM220199 c.695A>T p.Q232L Substitution - Missense 9:79704868-79704868 + TCGA-B5-A11N-01 COSM1110399 c.2085C>T p.Y695Y Substitution - coding silent 9:79722549-79722549 + LUAD-RT-S01840 COSM384855 c.559G>A p.E187K Substitution - Missense 9:79652761-79652761 + S02255 COSM5681030 c.343G>T p.E115* Substitution - Nonsense 9:79627401-79627401 + HCC53 COSM1625147 c.316-4A>G p.? Unknown 9:79627370-79627370 + PTC-54C COSM4164047 c.45A>G p.P15P Substitution - coding silent 9:79572835-79572835 + ccRCC-102 COSM1660320 c.109delG p.E37fs*13 Deletion - Frameshift 9:79573752-79573752 + 2521262 COSM5892057 c.609+5G>A p.? Unknown 9:79654080-79654080 + T3503 COSM4733922 c.379G>A p.A127T Substitution - Missense 9:79627437-79627437 + sysucc-1317T COSM5450595 c.1455C>T p.N485N Substitution - coding silent 9:79718836-79718836 + HCC2998 COSM1110403 c.2221G>T p.E741* Substitution - Nonsense 9:79725043-79725043 + TCGA-AP-A059-01 COSM1110401 c.2179G>A p.A727T Substitution - Missense 9:79723000-79723000 + TCGA-AP-A056-01 COSM1110371 c.663C>T p.N221N Substitution - coding silent 9:79704836-79704836 + TCGA-AP-A051-01 COSM1110397 c.2079C>T p.D693D Substitution - coding silent 9:79722543-79722543 + C008 COSM5524014 c.1353C>T p.F451F Substitution - coding silent 9:79718734-79718734 + TCGA-FW-A3R5-06 COSM3927057 c.878C>T p.P293L Substitution - Missense 9:79706841-79706841 + T3021 COSM3908244 c.1230C>T p.A410A Substitution - coding silent 9:79708753-79708753 + 19 COSM5747007 c.1493C>T p.P498L Substitution - Missense 9:79718874-79718874 + YUGATOR COSM5411333 c.503G>A p.G168E Substitution - Missense 9:79652705-79652705 + TCGA-AN-A0AT-01 COSM456121 c.958G>T p.V320F Substitution - Missense 9:79708139-79708139 + C0014T COSM4138997 c.1595G>A p.R532K Substitution - Missense 9:79720050-79720050 + PTC-70C COSM4164047 c.45A>G p.P15P Substitution - coding silent 9:79572835-79572835 + DLD1 COSM4626478 c.1236T>C p.A412A Substitution - coding silent 9:79708759-79708759 + TCGA-EE-A2MT-06 COSM3658674 c.1077C>T p.S359S Substitution - coding silent 9:79708600-79708600 + ATL033 COSM5711342 c.1814A>T p.D605V Substitution - Missense 9:79720269-79720269 + GC_296T1-GC_296N COSM1463150 c.1149C>T p.N383N Substitution - coding silent 9:79708672-79708672 + TCGA-BR-4362-01 COSM3908232 c.848G>A p.R283H Substitution - Missense 9:79706811-79706811 + TCGA-Q1-A6DT-01 COSM4850790 c.1075A>G p.S359G Substitution - Missense 9:79708598-79708598 + TCGA-D1-A160-01 COSM1110393 c.1605C>T p.Y535Y Substitution - coding silent 9:79720060-79720060 + TCGA-13-1411-01 COSM79299 c.640C>T p.R214* Substitution - Nonsense 9:79704813-79704813 + TCGA-EE-A2GO-06 COSM229126 c.1063C>T p.P355S Substitution - Missense 9:79708244-79708244 + TCGA-CA-6717-01 COSM1463152 c.1568C>T p.P523L Substitution - Missense 9:79718949-79718949 + HCC82T COSM1625149 c.966G>C p.K322N Substitution - Missense 9:79708147-79708147 + TCGA-BR-A4QL-01 COSM3908238 c.1085C>T p.T362I Substitution - Missense 9:79708608-79708608 + TCGA-G3-A25V-01 COSM4914652 c.1592A>G p.N531S Substitution - Missense 9:79720047-79720047 + J30_T COSM4139569 c.1972G>T p.D658Y Substitution - Missense 9:79721874-79721874 + ME044T COSM229126 c.1063C>T p.P355S Substitution - Missense 9:79708244-79708244 + TCGA-BR-7703-01 COSM3908240 c.1134C>A p.P378P Substitution - coding silent 9:79708657-79708657 + 8068588 COSM4388835 c.511G>T p.A171S Substitution - Missense 9:79652713-79652713 + TCGA-D3-A1Q3-06 COSM3658668 c.884C>G p.S295C Substitution - Missense 9:79706847-79706847 + I2L-P19Tb-Tumor-Biopsy COSM5359384 c.541C>A p.H181N Substitution - Missense 9:79652743-79652743 + 587224 COSM1229346 c.1292G>A p.R431H Substitution - Missense 9:79709651-79709651 + TCGA-D7-6817-01 COSM110481 c.1636C>T p.R546C Substitution - Missense 9:79720091-79720091 + TCGA-AP-A0LM-01 COSM1110365 c.194G>A p.R65Q Substitution - Missense 9:79574923-79574923 + T1154 COSM4733928 c.1224C>T p.A408A Substitution - coding silent 9:79708747-79708747 + TCGA-CG-5720-01 COSM3908230 c.521G>C p.S174T Substitution - Missense 9:79652723-79652723 + 587338 COSM1229348 c.958G>A p.V320I Substitution - Missense 9:79708139-79708139 + ACINAR25 COSM1735472 c.2015G>T p.G672V Substitution - Missense 9:79722479-79722479 + TCGA-06-5859 COSM2153406 c.1511C>T p.T504M Substitution - Missense 9:79718892-79718892 + RK052_C01 COSM1636240 c.818C>G p.S273C Substitution - Missense 9:79706781-79706781 + TCGA-ER-A2NG-06 COSM3658680 c.1392T>C p.F464F Substitution - coding silent 9:79718773-79718773 + 029T COSM1728336 c.811G>T p.A271S Substitution - Missense 9:79706774-79706774 + TCGA-CM-5864-01 COSM79299 c.640C>T p.R214* Substitution - Nonsense 9:79704813-79704813 + CSCC-30-T COSM4477055 c.2117C>T p.S706L Substitution - Missense 9:79722581-79722581 + TCGA-AA-A010-01 COSM285741 c.193C>T p.R65W Substitution - Missense 9:79574922-79574922 + TCGA-HU-A4GU-01 COSM3908244 c.1230C>T p.A410A Substitution - coding silent 9:79708753-79708753 + TCGA-BR-7707-01 COSM3908246 c.1512G>A p.T504T Substitution - coding silent 9:79718893-79718893 + B89-12-Tumor COSM1756235 c.2195A>G p.Y732C Substitution - Missense 9:79723016-79723016 + TCGA-AX-A0J0-01 COSM1110373 c.689A>G p.K230R Substitution - Missense 9:79704862-79704862 + CHC892T COSM4798627 c.195G>A p.R65R Substitution - coding silent 9:79574924-79574924 + DN11135 COSM5960592 c.889G>A p.A297T Substitution - Missense 9:79706852-79706852 + TCGA-CK-4950-01 COSM1463145 c.489C>T p.I163I Substitution - coding silent 9:79652691-79652691 + TCGA-D1-A17Q-01 COSM1110377 c.869C>T p.P290L Substitution - Missense 9:79706832-79706832 + TCGA-HU-A4G9-01 COSM3908242 c.1212C>T p.S404S Substitution - coding silent 9:79708735-79708735 + 4000_T COSM4139567 c.736G>A p.D246N Substitution - Missense 9:79705895-79705895 + TCGA-FW-A3R5-06 COSM3927055 c.617C>T p.S206L Substitution - Missense 9:79704790-79704790 + TCGA-B5-A0JY-01 COSM1110381 c.1083G>T p.R361S Substitution - Missense 9:79708606-79708606 + LUAD-RT-S01840 COSM384857 c.561G>A p.E187E Substitution - coding silent 9:79652763-79652763 + TCGA-BR-8589-01 COSM1242926 c.1954C>T p.R652W Substitution - Missense 9:79721856-79721856 + TCGA-AP-A059-01 COSM1110389 c.1330G>T p.G444* Substitution - Nonsense 9:79709689-79709689 + TCGA-BQ-5886-01 COSM3996620 c.467A>G p.Q156R Substitution - Missense 9:79652669-79652669 + TCGA-ES-A2HS-01 COSM4910297 c.2096T>C p.L699P Substitution - Missense 9:79722560-79722560 + TCGA-D5-6928-01 COSM1463156 c.2034G>T p.G678G Substitution - coding silent 9:79722498-79722498 + HCT15 COSM1110385 c.1233T>C p.A411A Substitution - coding silent 9:79708756-79708756 + T2944 COSM4733930 c.1528G>A p.V510I Substitution - Missense 9:79718909-79718909 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.444213 9q21.31 605132

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - ACCC IntronicInsertion . c.391-3298_391-3297insCCAC 9 82264208 CLL A C Missense p.K708T c.2123A>C 9 82337502 ESCA A G Missense p.K521R c.1562A>G 9 82333858 ALL A G Missense p.S623G c.1867A>G 9 82336684 DLBCL A T IntronicSNV . c.609+24349A>T 9 82293339 CLL A T SpliceAcceptorSNV . c.610-2A>T 9 82319696 ESCA C A IntronicSNV . c.253-1514C>A 9 82226057 CLL C A Missense p.P17Q c.50C>A 9 82188608 COREAD C A Synonymous p.A392A c.1176C>A 9 82323614 UCEC CC TT Missense p.P145L c.434_435delinsTT 9 82267551 CM C - Frameshift p.Q136Sfs*13 c.406delC 9 82267521 BLCA C G IntronicSNV . c.610-11130C>G 9 82308568 MM C G Missense p.S295C c.884C>G 9 82321762 CM C T 3-UTRSNV . c.2319+15C>T 9 82340071 CM C T 3-UTRSNV . c.2319+33C>T 9 82340089 CM C T IntronicSNV . c.253-11163C>T 9 82216408 HC C T IntronicSNV . c.610-57C>T 9 82319641 CM C T Missense p.P145L c.434C>T 9 82267551 CM C T Missense p.P355S c.1063C>T 9 82323159 CM C T Missense p.P426L c.1277C>T 9 82324551 CM C T Missense p.P433L c.1298C>T 9 82324572 CM C T Missense p.R242C c.724C>T 9 82319812 CM C T Missense p.R537C c.1609C>T 9 82334979 HNSC C T Missense p.R546C c.1636C>T 9 82335006 STAD C T Missense p.S265F c.794C>T 9 82321672 CM C T Missense p.S339F c.1016C>T 9 82323112 CM C T Missense p.S538F c.1613C>T 9 82334983 CM C T Missense p.S743L c.2228C>T 9 82339965 PRAD C T Missense p.T504M c.1511C>T 9 82333807 GBM C T Nonsense p.R214* c.640C>T 9 82319728 HNSC C T Nonsense p.R214* c.640C>T 9 82319728 OV C T Synonymous p.H190H c.570C>T 9 82267687 CM C T Synonymous p.H427H c.1281C>T 9 82324555 CM C T Synonymous p.I481I c.1443C>T 9 82333739 CM C T Synonymous p.I94I c.282C>T 9 82227600 GBM C T Synonymous p.L144L c.432C>T 9 82267549 LUAD C T Synonymous p.S245S c.735C>T 9 82320809 PRAD C T Synonymous p.S359S c.1077C>T 9 82323515 CM C T Synonymous p.V88V c.264C>T 9 82227582 BRCA C T Synonymous p.Y535Y c.1605C>T 9 82334975 UCEC G A IntronicSNV . c.610-10613G>A 9 82309085 CLL G A IntronicSNV . c.936+236G>A 9 82322050 CM G A IntronicSNV . c.936+284G>A 9 82322098 CM G A Missense p.A468T c.1402G>A 9 82333698 UCEC G A Missense p.D630N c.1888G>A 9 82336705 CM G A Missense p.G375E c.1124G>A 9 82323562 CM G A Missense p.G471E c.1412G>A 9 82333708 CM G A Missense p.G508S c.1522G>A 9 82333818 STAD G A Missense p.R13K c.38G>A 9 82187743 HNSC G A Missense p.R431H c.1292G>A 9 82324566 GBM G A Synonymous p.K521K c.1563G>A 9 82333859 HNSC G A Synonymous p.L343L c.1029G>A 9 82323125 LUSC G A Synonymous p.R116R c.348G>A 9 82242321 CM G A Synonymous p.V612V c.1836G>A 9 82335206 BLCA G C Missense p.A289P c.865G>C 9 82321743 LUAD G C Missense p.D257H c.769G>C 9 82320843 HNSC G C Missense p.S174T c.521G>C 9 82267638 STAD GGTCAGGGAATCGAGACCATCCT - IntronicDeletion . c.1986+65_1986+87delTCAGGGAATCGAGACCATCCTGG 9 82336866 ESCA G T Missense p.D246Y c.736G>T 9 82320810 HNSC G T Missense p.G247C c.739G>T 9 82320813 STAD G T Missense p.K218N c.654G>T 9 82319742 LUAD G T Missense p.V320F c.958G>T 9 82323054 BRCA G T Nonsense p.E248* c.742G>T 9 82320816 LUSC G T Nonsense p.G621* c.1861G>T 9 82336678 LUAD G T Synonymous p.G762G c.2286G>T 9 82340023 LUAD G T Synonymous p.R116R c.348G>T 9 82242321 LUAD T A IntronicSNV . c.252+10T>A 9 82191102 CM T C IntronicSNV . c.609+5293T>C 9 82274283 CLL T C IntronicSNV . c.609+5310T>C 9 82274300 CLL T C Missense p.L176P c.527T>C 9 82267644 CM T C Synonymous p.A411A c.1233T>C 9 82323671 STAD T C Synonymous p.A411A c.1233T>C 9 82323671 UCEC T C Synonymous p.F464F c.1392T>C 9 82333688 CM T C Synonymous p.Y70Y c.210T>C 9 82191050 CM TG - IntronicDeletion . c.253-6469_253-6468delGT 9 82221101 CLL T G IntronicSNV . c.609+19441T>G 9 82288431 CLL T G IntronicSNV . c.936+301T>G 9 82322115 STAD T G Missense p.L144R c.431T>G 9 82267548 CM - T IntronicInsertion . c.208-278dupT 9 82190765 STAD