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 2 230656613 230656613 + Missense_Mutation SNP C C T TCGA-OR-A5K5-01A-11D-A29I-10 TCGA-OR-A5K5-10A-01D-A29L-10 g.chr2:230656613C>T c.4159G>A c.(4159-4161)Gct>Act p.A1387T ACC 2 230723756 230723756 + Silent SNP C C G TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr2:230723756C>G c.633G>C c.(631-633)tcG>tcC p.S211S BLCA 2 230636274 230636274 + Silent SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 g.chr2:230636274G>C c.5544C>G c.(5542-5544)gtC>gtG p.V1848V BLCA 2 230650504 230650504 + Missense_Mutation SNP C C A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 g.chr2:230650504C>A c.4838G>T c.(4837-4839)cGg>cTg p.R1613L BLCA 2 230650558 230650558 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 g.chr2:230650558C>T c.4784G>A c.(4783-4785)cGa>cAa p.R1595Q BLCA 2 230656622 230656622 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr2:230656622G>A c.4150C>T c.(4150-4152)Cta>Tta p.L1384L BLCA 2 230656630 230656630 + Missense_Mutation SNP C C A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 g.chr2:230656630C>A c.4142G>T c.(4141-4143)aGc>aTc p.S1381I BLCA 2 230656916 230656916 + Nonsense_Mutation SNP C C A TCGA-XF-AAN5-01A-11D-A42E-08 TCGA-XF-AAN5-10A-01D-A42H-08 g.chr2:230656916C>A c.3943G>T c.(3943-3945)Gaa>Taa p.E1315* BLCA 2 230661311 230661311 + Missense_Mutation SNP G G C TCGA-XF-AAN5-01A-11D-A42E-08 TCGA-XF-AAN5-10A-01D-A42H-08 g.chr2:230661311G>C c.3587C>G c.(3586-3588)tCt>tGt p.S1196C BLCA 2 230661446 230661446 + Nonsense_Mutation SNP G G C TCGA-XF-AAN5-01A-11D-A42E-08 TCGA-XF-AAN5-10A-01D-A42H-08 g.chr2:230661446G>C c.3452C>G c.(3451-3453)tCa>tGa p.S1151* BLCA 2 230661454 230661454 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 g.chr2:230661454G>A c.3444C>T c.(3442-3444)gtC>gtT p.V1148V BLCA 2 230662472 230662472 + Silent SNP A A G TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr2:230662472A>G c.3333T>C c.(3331-3333)gaT>gaC p.D1111D BLCA 2 230668934 230668934 + Nonsense_Mutation SNP G G C TCGA-E7-A541-01A-11D-A26M-08 TCGA-E7-A541-10A-01D-A26K-08 g.chr2:230668934G>C c.2435C>G c.(2434-2436)tCa>tGa p.S812* BLCA 2 230672554 230672554 + Missense_Mutation SNP T T A TCGA-K4-A6FZ-01A-11D-A31L-08 TCGA-K4-A6FZ-10A-01D-A31J-08 g.chr2:230672554T>A c.2222A>T c.(2221-2223)gAa>gTa p.E741V BLCA 2 230673086 230673086 + Splice_Site SNP C C G TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr2:230673086C>G c.e15-1 BLCA 2 230723619 230723619 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr2:230723619G>A c.770C>T c.(769-771)tCt>tTt p.S257F BLCA 2 230723895 230723895 + Nonsense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 g.chr2:230723895G>C c.494C>G c.(493-495)tCa>tGa p.S165* BLCA 2 230723948 230723948 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr2:230723948C>A c.441G>T c.(439-441)caG>caT p.Q147H BLCA 2 230724018 230724018 + Missense_Mutation SNP G G C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 g.chr2:230724018G>C c.371C>G c.(370-372)tCt>tGt p.S124C BRCA 2 230638875 230638875 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr2:230638875C>T c.5407G>A c.(5407-5409)Gaa>Aaa p.E1803K BRCA 2 230643194 230643194 + Silent SNP G G A TCGA-E2-A1B1-01A-21D-A12Q-09 TCGA-E2-A1B1-10A-01D-A12Q-09 g.chr2:230643194G>A c.5094C>T c.(5092-5094)cgC>cgT p.R1698R BRCA 2 230652275 230652275 + Silent SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:230652275G>A c.4716C>T c.(4714-4716)atC>atT p.I1572I BRCA 2 230654349 230654349 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr2:230654349C>T c.4448G>A c.(4447-4449)cGa>cAa p.R1483Q BRCA 2 230656625 230656625 + Missense_Mutation SNP G G A TCGA-A8-A09M-01A-11W-A019-09 TCGA-A8-A09M-10A-01W-A021-09 g.chr2:230656625G>A c.4147C>T c.(4147-4149)Cct>Tct p.P1383S BRCA 2 230661314 230661315 + Frame_Shift_Ins INS - - A TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 g.chr2:230661314_230661315insA c.3583_3584insT c.(3583-3585)tctfs p.S1195fs BRCA 2 230663600 230663601 + Frame_Shift_Del DEL GA GA - TCGA-BH-A1FG-01A-11D-A13L-09 TCGA-BH-A1FG-11B-12D-A13O-09 g.chr2:230663600_230663601delGA c.3247_3248delTC c.(3247-3249)tccfs p.S1083fs BRCA 2 230678609 230678609 + Silent SNP G G A TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 g.chr2:230678609G>A c.1819C>T c.(1819-1821)Cta>Tta p.L607L BRCA 2 230678717 230678717 + Missense_Mutation SNP C C T TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 g.chr2:230678717C>T c.1711G>A c.(1711-1713)Gaa>Aaa p.E571K BRCA 2 230678948 230678948 + Splice_Site DEL C C - TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 g.chr2:230678948delC c.e11+1 BRCA 2 230679028 230679028 + Missense_Mutation SNP T T A TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 g.chr2:230679028T>A c.1601A>T c.(1600-1602)cAg>cTg p.Q534L BRCA 2 230679862 230679862 + Nonsense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:230679862G>A c.1540C>T c.(1540-1542)Cga>Tga p.R514* BRCA 2 230723707 230723707 + Missense_Mutation SNP G G T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:230723707G>T c.682C>A c.(682-684)Cag>Aag p.Q228K CESC 2 230633395 230633395 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr2:230633395C>G c.5719G>C c.(5719-5721)Gat>Cat p.D1907H CESC 2 230636303 230636303 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr2:230636303C>G c.5515G>C c.(5515-5517)Gat>Cat p.D1839H CESC 2 230650475 230650475 + Nonsense_Mutation SNP C C A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 g.chr2:230650475C>A c.4867G>T c.(4867-4869)Gag>Tag p.E1623* CESC 2 230660005 230660006 + Frame_Shift_Ins INS - - C TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 g.chr2:230660005_230660006insC c.3632_3633insG c.(3631-3633)ggtfs p.G1211fs CESC 2 230667174 230667174 + Splice_Site SNP A A G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 g.chr2:230667174A>G c.2775T>C c.(2773-2775)ggT>ggC p.G925G CESC 2 230672494 230672494 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr2:230672494G>A c.2282C>T c.(2281-2283)gCg>gTg p.A761V CESC 2 230678652 230678652 + Silent SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 g.chr2:230678652G>T c.1776C>A c.(1774-1776)atC>atA p.I592I CESC 2 230723835 230723835 + Nonsense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 g.chr2:230723835G>C c.554C>G c.(553-555)tCa>tGa p.S185* CHOL 2 230672523 230672523 + Missense_Mutation SNP C C G TCGA-W5-AA2I-01A-32D-A417-09 TCGA-W5-AA2I-10A-01D-A41A-09 g.chr2:230672523C>G c.2253G>C c.(2251-2253)aaG>aaC p.K751N COAD 2 230632460 230632460 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:230632460C>T c.5789G>A c.(5788-5790)cGg>cAg p.R1930Q COAD 2 230636319 230636319 + Silent SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr2:230636319G>A c.5499C>T c.(5497-5499)ggC>ggT p.G1833G COAD 2 230642130 230642130 + Silent SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:230642130T>C c.5205A>G c.(5203-5205)tcA>tcG p.S1735S COAD 2 230643168 230643168 + Missense_Mutation SNP G G A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr2:230643168G>A c.5120C>T c.(5119-5121)gCt>gTt p.A1707V COAD 2 230643668 230643668 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:230643668C>T c.4908G>A c.(4906-4908)gcG>gcA p.A1636A COAD 2 230650504 230650504 + Missense_Mutation SNP C C T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr2:230650504C>T c.4838G>A c.(4837-4839)cGg>cAg p.R1613Q COAD 2 230650513 230650513 + Missense_Mutation SNP C C T TCGA-D5-6538-01A-11D-1719-10 TCGA-D5-6538-10A-01D-1719-10 g.chr2:230650513C>T c.4829G>A c.(4828-4830)gGc>gAc p.G1610D COAD 2 230650571 230650571 + Splice_Site SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr2:230650571G>A c.4771C>T c.(4771-4773)Cgt>Tgt p.R1591C COAD 2 230652242 230652242 + Silent SNP T T C TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr2:230652242T>C c.4749A>G c.(4747-4749)gcA>gcG p.A1583A COAD 2 230654397 230654397 + Missense_Mutation SNP G G A TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr2:230654397G>A c.4400C>T c.(4399-4401)cCg>cTg p.P1467L COAD 2 230655919 230655919 + Silent SNP A A G TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr2:230655919A>G c.4239T>C c.(4237-4239)ggT>ggC p.G1413G COAD 2 230656627 230656627 + Missense_Mutation SNP T T C TCGA-A6-3808-01A-01W-0995-10 TCGA-A6-3808-11A-01W-0995-10 g.chr2:230656627T>C c.4145A>G c.(4144-4146)aAt>aGt p.N1382S COAD 2 230657763 230657763 + Missense_Mutation SNP T T C TCGA-DM-A1D8-01A-11D-A152-10 TCGA-DM-A1D8-10A-01D-A152-10 g.chr2:230657763T>C c.3842A>G c.(3841-3843)cAg>cGg p.Q1281R COAD 2 230657813 230657813 + Silent SNP A A G TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr2:230657813A>G c.3792T>C c.(3790-3792)caT>caC p.H1264H COAD 2 230661315 230661315 + Frame_Shift_Del DEL A A - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr2:230661315delA c.3583delT c.(3583-3585)tctfs p.S1196fs COAD 2 230661315 230661315 + Frame_Shift_Del DEL A A - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr2:230661315delA c.3583delT c.(3583-3585)tctfs p.S1196fs COAD 2 230661315 230661315 + Frame_Shift_Del DEL A A - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr2:230661315delA c.3583delT c.(3583-3585)tctfs p.S1196fs COAD 2 230661315 230661315 + Frame_Shift_Del DEL A A - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr2:230661315delA c.3583delT c.(3583-3585)tctfs p.S1196fs COAD 2 230661336 230661336 + Nonsense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:230661336G>A c.3562C>T c.(3562-3564)Cga>Tga p.R1188* COAD 2 230662511 230662511 + Silent SNP A A G TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr2:230662511A>G c.3294T>C c.(3292-3294)caT>caC p.H1098H COAD 2 230662528 230662528 + Missense_Mutation SNP T T A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr2:230662528T>A c.3277A>T c.(3277-3279)Att>Ttt p.I1093F COAD 2 230664073 230664073 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:230664073T>G c.3008A>C c.(3007-3009)aAa>aCa p.K1003T COAD 2 230667084 230667084 + Silent SNP T T C TCGA-DM-A28G-01A-11D-A16V-10 TCGA-DM-A28G-10A-01D-A16V-10 g.chr2:230667084T>C c.2865A>G c.(2863-2865)ggA>ggG p.G955G COAD 2 230668351 230668351 + Silent SNP A A C TCGA-AA-A00O-01A-02W-A00E-09 TCGA-AA-A00O-10A-01W-A00E-09 g.chr2:230668351A>C c.2709T>G c.(2707-2709)ctT>ctG p.L903L COAD 2 230668729 230668730 + Frame_Shift_Ins INS - - T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr2:230668729_230668730insT c.2639_2640insA c.(2638-2640)aatfs p.N880fs COAD 2 230668868 230668868 + Missense_Mutation SNP A A C TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr2:230668868A>C c.2501T>G c.(2500-2502)tTt>tGt p.F834C COAD 2 230670463 230670463 + Missense_Mutation SNP A A G TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr2:230670463A>G c.2408T>C c.(2407-2409)tTa>tCa p.L803S COAD 2 230670490 230670490 + Missense_Mutation SNP C C T TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr2:230670490C>T c.2381G>A c.(2380-2382)cGt>cAt p.R794H COAD 2 230675724 230675724 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr2:230675724G>A c.1949C>T c.(1948-1950)aCa>aTa p.T650I COAD 2 230675921 230675921 + Splice_Site SNP C C A TCGA-DM-A0XD-01A-12D-A152-10 TCGA-DM-A0XD-10A-01D-A152-10 g.chr2:230675921C>A c.e13-1 COAD 2 230683209 230683209 + Silent SNP T T A TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr2:230683209T>A c.1326A>T c.(1324-1326)ctA>ctT p.L442L COAD 2 230683209 230683209 + Silent SNP T T A TCGA-CM-4752-01A-01D-1408-10 TCGA-CM-4752-10A-01D-1408-10 g.chr2:230683209T>A c.1326A>T c.(1324-1326)ctA>ctT p.L442L COAD 2 230683209 230683209 + Silent SNP T T C TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr2:230683209T>C c.1326A>G c.(1324-1326)ctA>ctG p.L442L COAD 2 230683210 230683210 + Missense_Mutation SNP A A G TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr2:230683210A>G c.1325T>C c.(1324-1326)cTa>cCa p.L442P COAD 2 230683211 230683211 + Missense_Mutation SNP G G T TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr2:230683211G>T c.1324C>A c.(1324-1326)Cta>Ata p.L442I COAD 2 230693967 230693967 + Silent SNP A A G TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr2:230693967A>G c.1248T>C c.(1246-1248)ttT>ttC p.F416F COAD 2 230701593 230701593 + Missense_Mutation SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr2:230701593C>T c.1115G>A c.(1114-1116)cGg>cAg p.R372Q COAD 2 230705619 230705619 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:230705619C>T c.926G>A c.(925-927)cGc>cAc p.R309H COAD 2 230723678 230723678 + Silent SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr2:230723678C>T c.711G>A c.(709-711)gcG>gcA p.A237A COAD 2 230723710 230723710 + Missense_Mutation SNP C C A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:230723710C>A c.679G>T c.(679-681)Gat>Tat p.D227Y COAD 2 230723852 230723852 + Silent SNP A A G TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr2:230723852A>G c.537T>C c.(535-537)gcT>gcC p.A179A COAD 2 230723854 230723854 + Missense_Mutation SNP C C T TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr2:230723854C>T c.535G>A c.(535-537)Gct>Act p.A179T COAD 2 230723869 230723869 + Missense_Mutation SNP T T C TCGA-A6-6654-01A-21D-1835-10 TCGA-A6-6654-10A-01D-1835-10 g.chr2:230723869T>C c.520A>G c.(520-522)Aaa>Gaa p.K174E COAD 2 230723869 230723869 + Missense_Mutation SNP T T C TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr2:230723869T>C c.520A>G c.(520-522)Aaa>Gaa p.K174E COAD 2 230723869 230723869 + Missense_Mutation SNP T T C TCGA-DM-A0XD-01A-12D-A152-10 TCGA-DM-A0XD-10A-01D-A152-10 g.chr2:230723869T>C c.520A>G c.(520-522)Aaa>Gaa p.K174E COAD 2 230723870 230723870 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:230723870C>T c.519G>A c.(517-519)gcG>gcA p.A173A COAD 2 230723946 230723946 + Missense_Mutation SNP T T C TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr2:230723946T>C c.443A>G c.(442-444)aAa>aGa p.K148R COAD 2 230724269 230724269 + Silent SNP A A G TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr2:230724269A>G c.120T>C c.(118-120)gcT>gcC p.A40A COADREAD 2 230632460 230632460 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:230632460C>T c.5789G>A c.(5788-5790)cGg>cAg p.R1930Q COADREAD 2 230636319 230636319 + Silent SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr2:230636319G>A c.5499C>T c.(5497-5499)ggC>ggT p.G1833G COADREAD 2 230642130 230642130 + Silent SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:230642130T>C c.5205A>G c.(5203-5205)tcA>tcG p.S1735S COADREAD 2 230643168 230643168 + Missense_Mutation SNP G G A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr2:230643168G>A c.5120C>T c.(5119-5121)gCt>gTt p.A1707V COADREAD 2 230643668 230643668 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:230643668C>T c.4908G>A c.(4906-4908)gcG>gcA p.A1636A COADREAD 2 230650504 230650504 + Missense_Mutation SNP C C T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr2:230650504C>T c.4838G>A c.(4837-4839)cGg>cAg p.R1613Q COADREAD 2 230650513 230650513 + Missense_Mutation SNP C C T TCGA-D5-6538-01A-11D-1719-10 TCGA-D5-6538-10A-01D-1719-10 g.chr2:230650513C>T c.4829G>A c.(4828-4830)gGc>gAc p.G1610D COADREAD 2 230650571 230650571 + Splice_Site SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr2:230650571G>A c.4771C>T c.(4771-4773)Cgt>Tgt p.R1591C COADREAD 2 230652242 230652242 + Silent SNP T T C TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr2:230652242T>C c.4749A>G c.(4747-4749)gcA>gcG p.A1583A COADREAD 2 230652244 230652244 + Missense_Mutation SNP C C A TCGA-AF-6655-01A-11D-1826-10 TCGA-AF-6655-10A-01D-1826-10 g.chr2:230652244C>A c.4747G>T c.(4747-4749)Gca>Tca p.A1583S COADREAD 2 230654397 230654397 + Missense_Mutation SNP G G A TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr2:230654397G>A c.4400C>T c.(4399-4401)cCg>cTg p.P1467L COADREAD 2 230655919 230655919 + Silent SNP A A G TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr2:230655919A>G c.4239T>C c.(4237-4239)ggT>ggC p.G1413G COADREAD 2 230656627 230656627 + Missense_Mutation SNP T T C TCGA-A6-3808-01A-01W-0995-10 TCGA-A6-3808-11A-01W-0995-10 g.chr2:230656627T>C c.4145A>G c.(4144-4146)aAt>aGt p.N1382S COADREAD 2 230657763 230657763 + Missense_Mutation SNP T T C TCGA-DM-A1D8-01A-11D-A152-10 TCGA-DM-A1D8-10A-01D-A152-10 g.chr2:230657763T>C c.3842A>G c.(3841-3843)cAg>cGg p.Q1281R COADREAD 2 230657813 230657813 + Silent SNP A A G TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr2:230657813A>G c.3792T>C c.(3790-3792)caT>caC p.H1264H COADREAD 2 230661315 230661315 + Frame_Shift_Del DEL A A - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr2:230661315delA c.3583delT c.(3583-3585)tctfs p.S1196fs COADREAD 2 230661315 230661315 + Frame_Shift_Del DEL A A - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr2:230661315delA c.3583delT c.(3583-3585)tctfs p.S1196fs COADREAD 2 230661315 230661315 + Frame_Shift_Del DEL A A - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr2:230661315delA c.3583delT c.(3583-3585)tctfs p.S1196fs COADREAD 2 230661315 230661315 + Frame_Shift_Del DEL A A - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr2:230661315delA c.3583delT c.(3583-3585)tctfs p.S1196fs COADREAD 2 230661336 230661336 + Nonsense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:230661336G>A c.3562C>T c.(3562-3564)Cga>Tga p.R1188* COADREAD 2 230662511 230662511 + Silent SNP A A G TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr2:230662511A>G c.3294T>C c.(3292-3294)caT>caC p.H1098H COADREAD 2 230662528 230662528 + Missense_Mutation SNP T T A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr2:230662528T>A c.3277A>T c.(3277-3279)Att>Ttt p.I1093F COADREAD 2 230664073 230664073 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:230664073T>G c.3008A>C c.(3007-3009)aAa>aCa p.K1003T COADREAD 2 230667084 230667084 + Silent SNP T T C TCGA-DM-A28G-01A-11D-A16V-10 TCGA-DM-A28G-10A-01D-A16V-10 g.chr2:230667084T>C c.2865A>G c.(2863-2865)ggA>ggG p.G955G COADREAD 2 230668351 230668351 + Silent SNP A A C TCGA-AA-A00O-01A-02W-A00E-09 TCGA-AA-A00O-10A-01W-A00E-09 g.chr2:230668351A>C c.2709T>G c.(2707-2709)ctT>ctG p.L903L COADREAD 2 230668729 230668730 + Frame_Shift_Ins INS - - T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr2:230668729_230668730insT c.2639_2640insA c.(2638-2640)aatfs p.N880fs COADREAD 2 230668868 230668868 + Missense_Mutation SNP A A C TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr2:230668868A>C c.2501T>G c.(2500-2502)tTt>tGt p.F834C COADREAD 2 230670463 230670463 + Missense_Mutation SNP A A G TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr2:230670463A>G c.2408T>C c.(2407-2409)tTa>tCa p.L803S COADREAD 2 230670490 230670490 + Missense_Mutation SNP C C T TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr2:230670490C>T c.2381G>A c.(2380-2382)cGt>cAt p.R794H COADREAD 2 230672555 230672555 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:230672555C>A c.2221G>T c.(2221-2223)Gaa>Taa p.E741* COADREAD 2 230675724 230675724 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr2:230675724G>A c.1949C>T c.(1948-1950)aCa>aTa p.T650I COADREAD 2 230675921 230675921 + Splice_Site SNP C C A TCGA-DM-A0XD-01A-12D-A152-10 TCGA-DM-A0XD-10A-01D-A152-10 g.chr2:230675921C>A c.e13-1 COADREAD 2 230679861 230679861 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:230679861C>T c.1541G>A c.(1540-1542)cGa>cAa p.R514Q COADREAD 2 230683209 230683209 + Silent SNP T T A TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr2:230683209T>A c.1326A>T c.(1324-1326)ctA>ctT p.L442L COADREAD 2 230683209 230683209 + Silent SNP T T A TCGA-CM-4752-01A-01D-1408-10 TCGA-CM-4752-10A-01D-1408-10 g.chr2:230683209T>A c.1326A>T c.(1324-1326)ctA>ctT p.L442L COADREAD 2 230683209 230683209 + Silent SNP T T C TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr2:230683209T>C c.1326A>G c.(1324-1326)ctA>ctG p.L442L COADREAD 2 230683210 230683210 + Missense_Mutation SNP A A G TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr2:230683210A>G c.1325T>C c.(1324-1326)cTa>cCa p.L442P COADREAD 2 230683211 230683211 + Missense_Mutation SNP G G T TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr2:230683211G>T c.1324C>A c.(1324-1326)Cta>Ata p.L442I COADREAD 2 230693939 230693939 + Missense_Mutation SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr2:230693939G>A c.1276C>T c.(1276-1278)Ctt>Ttt p.L426F COADREAD 2 230693967 230693967 + Silent SNP A A G TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr2:230693967A>G c.1248T>C c.(1246-1248)ttT>ttC p.F416F COADREAD 2 230701593 230701593 + Missense_Mutation SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr2:230701593C>T c.1115G>A c.(1114-1116)cGg>cAg p.R372Q COADREAD 2 230705619 230705619 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:230705619C>T c.926G>A c.(925-927)cGc>cAc p.R309H COADREAD 2 230723678 230723678 + Silent SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr2:230723678C>T c.711G>A c.(709-711)gcG>gcA p.A237A COADREAD 2 230723710 230723710 + Missense_Mutation SNP C C A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:230723710C>A c.679G>T c.(679-681)Gat>Tat p.D227Y COADREAD 2 230723852 230723852 + Silent SNP A A G TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr2:230723852A>G c.537T>C c.(535-537)gcT>gcC p.A179A COADREAD 2 230723854 230723854 + Missense_Mutation SNP C C T TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr2:230723854C>T c.535G>A c.(535-537)Gct>Act p.A179T COADREAD 2 230723869 230723869 + Missense_Mutation SNP T T C TCGA-A6-6654-01A-21D-1835-10 TCGA-A6-6654-10A-01D-1835-10 g.chr2:230723869T>C c.520A>G c.(520-522)Aaa>Gaa p.K174E COADREAD 2 230723869 230723869 + Missense_Mutation SNP T T C TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr2:230723869T>C c.520A>G c.(520-522)Aaa>Gaa p.K174E COADREAD 2 230723869 230723869 + Missense_Mutation SNP T T C TCGA-DM-A0XD-01A-12D-A152-10 TCGA-DM-A0XD-10A-01D-A152-10 g.chr2:230723869T>C c.520A>G c.(520-522)Aaa>Gaa p.K174E COADREAD 2 230723870 230723870 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:230723870C>T c.519G>A c.(517-519)gcG>gcA p.A173A COADREAD 2 230723946 230723946 + Missense_Mutation SNP T T C TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr2:230723946T>C c.443A>G c.(442-444)aAa>aGa p.K148R COADREAD 2 230724269 230724269 + Silent SNP A A G TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr2:230724269A>G c.120T>C c.(118-120)gcT>gcC p.A40A ESCA 2 230636243 230636243 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr2:230636243G>T c.5575C>A c.(5575-5577)Ccg>Acg p.P1859T ESCA 2 230656615 230656615 + Missense_Mutation SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 g.chr2:230656615C>T c.4157G>A c.(4156-4158)aGa>aAa p.R1386K ESCA 2 230660024 230660024 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 g.chr2:230660024C>T c.3614G>A c.(3613-3615)gGa>gAa p.G1205E ESCA 2 230664051 230664051 + Silent SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 g.chr2:230664051T>C c.3030A>G c.(3028-3030)ccA>ccG p.P1010P ESCA 2 230668381 230668381 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr2:230668381G>A c.2679C>T c.(2677-2679)agC>agT p.S893S ESCA 2 230672543 230672544 + Frame_Shift_Ins INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr2:230672543_230672544insA c.2232_2233insT c.(2230-2235)tttgcafs p.A745fs ESCA 2 230678737 230678737 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 g.chr2:230678737G>A c.1691C>T c.(1690-1692)gCa>gTa p.A564V ESCA 2 230683196 230683196 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 g.chr2:230683196G>T c.1339C>A c.(1339-1341)Caa>Aaa p.Q447K ESCA 2 230693989 230693989 + Missense_Mutation SNP C C G TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 g.chr2:230693989C>G c.1226G>C c.(1225-1227)aGg>aCg p.R409T ESCA 2 230744786 230744786 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 g.chr2:230744786G>A c.10C>T c.(10-12)Cgg>Tgg p.R4W GBM 2 230663714 230663714 + Missense_Mutation SNP A A C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 g.chr2:230663714A>C c.3134T>G c.(3133-3135)tTg>tGg p.L1045W GBM 2 230663734 230663734 + Silent SNP T T C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 g.chr2:230663734T>C c.3114A>G c.(3112-3114)aaA>aaG p.K1038K GBM 2 230663763 230663763 + Missense_Mutation SNP T T C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 g.chr2:230663763T>C c.3085A>G c.(3085-3087)Aaa>Gaa p.K1029E GBM 2 230683176 230683176 + Silent SNP T T C TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 g.chr2:230683176T>C c.1359A>G c.(1357-1359)caA>caG p.Q453Q GBM 2 230724206 230724206 + Silent SNP C C T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 g.chr2:230724206C>T c.183G>A c.(181-183)ggG>ggA p.G61G GBMLGG 2 230633990 230633990 + Missense_Mutation SNP G G C TCGA-TQ-A7RN-01A-11D-A33T-08 TCGA-TQ-A7RN-10A-01D-A33W-08 g.chr2:230633990G>C c.5635C>G c.(5635-5637)Ctg>Gtg p.L1879V GBMLGG 2 230638967 230638968 + Frame_Shift_Del DEL CT CT - TCGA-HT-7677-01A-11D-2253-08 TCGA-HT-7677-10A-01D-2253-08 g.chr2:230638967_230638968delCT c.5314_5315delAG c.(5314-5316)agtfs p.S1772fs GBMLGG 2 230656709 230656709 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:230656709A>G c.4063T>C c.(4063-4065)Tat>Cat p.Y1355H GBMLGG 2 230663714 230663714 + Missense_Mutation SNP A A C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 g.chr2:230663714A>C c.3134T>G c.(3133-3135)tTg>tGg p.L1045W GBMLGG 2 230663734 230663734 + Silent SNP T T C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 g.chr2:230663734T>C c.3114A>G c.(3112-3114)aaA>aaG p.K1038K GBMLGG 2 230663763 230663763 + Missense_Mutation SNP T T C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 g.chr2:230663763T>C c.3085A>G c.(3085-3087)Aaa>Gaa p.K1029E GBMLGG 2 230668856 230668856 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:230668856A>G c.2513T>C c.(2512-2514)tTa>tCa p.L838S GBMLGG 2 230668911 230668911 + Nonsense_Mutation SNP G G A TCGA-HT-7610-01A-21D-2086-08 TCGA-HT-7610-10A-01D-2086-08 g.chr2:230668911G>A c.2458C>T c.(2458-2460)Cga>Tga p.R820* GBMLGG 2 230672573 230672573 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:230672573T>C c.2203A>G c.(2203-2205)Atg>Gtg p.M735V GBMLGG 2 230672968 230672968 + Splice_Site SNP C C A TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 g.chr2:230672968C>A c.2195G>T c.(2194-2196)tGt>tTt p.C732F GBMLGG 2 230683176 230683176 + Silent SNP T T C TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 g.chr2:230683176T>C c.1359A>G c.(1357-1359)caA>caG p.Q453Q GBMLGG 2 230723871 230723871 + Missense_Mutation SNP G G A TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 g.chr2:230723871G>A c.518C>T c.(517-519)gCg>gTg p.A173V GBMLGG 2 230724205 230724206 + Frame_Shift_Ins INS - - C TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 g.chr2:230724205_230724206insC c.183_184insG c.(181-186)gggcagfs p.Q62fs GBMLGG 2 230724206 230724206 + Silent SNP C C T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 g.chr2:230724206C>T c.183G>A c.(181-183)ggG>ggA p.G61G HNSC 2 230632274 230632274 + Missense_Mutation SNP G G T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 g.chr2:230632274G>T c.5975C>A c.(5974-5976)tCc>tAc p.S1992Y HNSC 2 230632383 230632383 + Missense_Mutation SNP C C G TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 g.chr2:230632383C>G c.5866G>C c.(5866-5868)Gta>Cta p.V1956L HNSC 2 230643188 230643198 + Frame_Shift_Del DEL TAAGAAGCGAA TAAGAAGCGAA - TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr2:230643188_230643198delTAAGAAGCGAA c.5090_5100delTTCGCTTCTTA c.(5089-5100)tttcgcttcttafs p.FRFL1697fs HNSC 2 230643289 230643289 + Missense_Mutation SNP T T C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 g.chr2:230643289T>C c.4999A>G c.(4999-5001)Acc>Gcc p.T1667A HNSC 2 230643687 230643687 + Missense_Mutation SNP G G T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 g.chr2:230643687G>T c.4889C>A c.(4888-4890)cCt>cAt p.P1630H HNSC 2 230650483 230650483 + Missense_Mutation SNP T T A TCGA-CQ-6219-01A-11D-1912-08 TCGA-CQ-6219-10A-01D-1912-08 g.chr2:230650483T>A c.4859A>T c.(4858-4860)tAt>tTt p.Y1620F HNSC 2 230652326 230652326 + Silent SNP T T C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 g.chr2:230652326T>C c.4665A>G c.(4663-4665)gcA>gcG p.A1555A HNSC 2 230652349 230652349 + Nonsense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 g.chr2:230652349G>A c.4642C>T c.(4642-4644)Caa>Taa p.Q1548* HNSC 2 230653558 230653558 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 g.chr2:230653558C>T c.4569G>A c.(4567-4569)atG>atA p.M1523I HNSC 2 230655844 230655844 + Nonsense_Mutation SNP C C T TCGA-UF-A7JF-01A-11D-A34J-08 TCGA-UF-A7JF-10A-01D-A34M-08 g.chr2:230655844C>T c.4314G>A c.(4312-4314)tgG>tgA p.W1438* HNSC 2 230656690 230656690 + Missense_Mutation SNP T T A TCGA-CN-A497-01A-11D-A24D-08 TCGA-CN-A497-10A-01D-A24F-08 g.chr2:230656690T>A c.4082A>T c.(4081-4083)cAg>cTg p.Q1361L HNSC 2 230663654 230663654 + Missense_Mutation SNP G G A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 g.chr2:230663654G>A c.3194C>T c.(3193-3195)gCa>gTa p.A1065V HNSC 2 230672975 230672975 + Silent SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 g.chr2:230672975G>A c.2188C>T c.(2188-2190)Ctg>Ttg p.L730L HNSC 2 230675762 230675762 + Splice_Site SNP C C G TCGA-CQ-A4C6-01A-11D-A25D-08 TCGA-CQ-A4C6-10A-01D-A25E-08 g.chr2:230675762C>G c.e14-1 HNSC 2 230693917 230693917 + Missense_Mutation SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 g.chr2:230693917C>T c.1298G>A c.(1297-1299)aGt>aAt p.S433N HNSC 2 230705568 230705568 + Missense_Mutation SNP T T C TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 g.chr2:230705568T>C c.977A>G c.(976-978)cAa>cGa p.Q326R HNSC 2 230723591 230723591 + Missense_Mutation SNP G G C TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 g.chr2:230723591G>C c.798C>G c.(796-798)ttC>ttG p.F266L HNSC 2 230744733 230744733 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr2:230744733G>A c.63C>T c.(61-63)gcC>gcT p.A21A KICH 2 230650546 230650546 + Missense_Mutation SNP A A C TCGA-KM-8639-01A-11D-2397-10 TCGA-KM-8639-10A-01D-2397-10 g.chr2:230650546A>C c.4796T>G c.(4795-4797)cTg>cGg p.L1599R KIPAN 2 230633435 230633435 + Splice_Site SNP A A G TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr2:230633435A>G c.5679T>C c.(5677-5679)agT>agC p.S1893S KIPAN 2 230642131 230642131 + Nonsense_Mutation SNP G G T TCGA-CJ-6030-01A-11D-1669-08 TCGA-CJ-6030-11A-01D-1669-08 g.chr2:230642131G>T c.5204C>A c.(5203-5205)tCa>tAa p.S1735* KIPAN 2 230650536 230650536 + Silent SNP C C A TCGA-BP-5173-01A-01D-1429-08 TCGA-BP-5173-11A-01D-1429-08 g.chr2:230650536C>A c.4806G>T c.(4804-4806)gcG>gcT p.A1602A KIPAN 2 230650546 230650546 + Missense_Mutation SNP A A C TCGA-KM-8639-01A-11D-2397-10 TCGA-KM-8639-10A-01D-2397-10 g.chr2:230650546A>C c.4796T>G c.(4795-4797)cTg>cGg p.L1599R KIPAN 2 230654396 230654396 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr2:230654396C>T c.4401G>A c.(4399-4401)ccG>ccA p.P1467P KIPAN 2 230656640 230656641 + Missense_Mutation DNP CT CT TA TCGA-5P-A9KA-01A-11D-A42J-10 TCGA-5P-A9KA-10A-01D-A42M-10 g.chr2:230656640_230656641CT>TA c.4131_4132AG>TA c.(4129-4134)acAGat>acTAat p.D1378N KIPAN 2 230656737 230656737 + Frame_Shift_Del DEL C C - TCGA-5P-A9JY-01A-11D-A42J-10 TCGA-5P-A9JY-10A-01D-A42M-10 g.chr2:230656737delC c.4035delG c.(4033-4035)cagfs p.Q1345fs KIPAN 2 230659907 230659907 + Missense_Mutation SNP C C T TCGA-SX-A7SN-01A-11D-A34Z-10 TCGA-SX-A7SN-10A-01D-A34Z-10 g.chr2:230659907C>T c.3731G>A c.(3730-3732)gGg>gAg p.G1244E KIPAN 2 230663701 230663701 + Silent SNP T T C TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr2:230663701T>C c.3147A>G c.(3145-3147)acA>acG p.T1049T KIPAN 2 230675664 230675665 + Frame_Shift_Ins INS - - T TCGA-B0-4710-01A-01D-1501-10 TCGA-B0-4710-11A-02D-1501-10 g.chr2:230675664_230675665insT c.2008_2009insA c.(2008-2010)atgfs p.M670fs KIPAN 2 230675716 230675716 + Nonsense_Mutation SNP G G A TCGA-AK-3461-01A-02D-1361-10 TCGA-AK-3461-10A-01D-1361-10 g.chr2:230675716G>A c.1957C>T c.(1957-1959)Caa>Taa p.Q653* KIPAN 2 230701700 230701702 + Splice_Site DEL ACT ACT - TCGA-BQ-7048-01A-11D-1961-08 TCGA-BQ-7048-11A-01D-1961-08 g.chr2:230701700_230701702delACT c.1008delAGT c.(1006-1008)aga>ag p.R338del KIRC 2 230642131 230642131 + Nonsense_Mutation SNP G G T TCGA-CJ-6030-01A-11D-1669-08 TCGA-CJ-6030-11A-01D-1669-08 g.chr2:230642131G>T c.5204C>A c.(5203-5205)tCa>tAa p.S1735* KIRC 2 230650536 230650536 + Silent SNP C C A TCGA-BP-5173-01A-01D-1429-08 TCGA-BP-5173-11A-01D-1429-08 g.chr2:230650536C>A c.4806G>T c.(4804-4806)gcG>gcT p.A1602A KIRC 2 230654396 230654396 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr2:230654396C>T c.4401G>A c.(4399-4401)ccG>ccA p.P1467P KIRC 2 230675664 230675665 + Frame_Shift_Ins INS - - T TCGA-B0-4710-01A-01D-1501-10 TCGA-B0-4710-11A-02D-1501-10 g.chr2:230675664_230675665insT c.2008_2009insA c.(2008-2010)atgfs p.M670fs KIRC 2 230675716 230675716 + Nonsense_Mutation SNP G G A TCGA-AK-3461-01A-02D-1361-10 TCGA-AK-3461-10A-01D-1361-10 g.chr2:230675716G>A c.1957C>T c.(1957-1959)Caa>Taa p.Q653* KIRP 2 230633435 230633435 + Splice_Site SNP A A G TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr2:230633435A>G c.5679T>C c.(5677-5679)agT>agC p.S1893S KIRP 2 230656640 230656641 + Missense_Mutation DNP CT CT TA TCGA-5P-A9KA-01A-11D-A42J-10 TCGA-5P-A9KA-10A-01D-A42M-10 g.chr2:230656640_230656641CT>TA c.4131_4132AG>TA c.(4129-4134)acAGat>acTAat p.D1378N KIRP 2 230656737 230656737 + Frame_Shift_Del DEL C C - TCGA-5P-A9JY-01A-11D-A42J-10 TCGA-5P-A9JY-10A-01D-A42M-10 g.chr2:230656737delC c.4035delG c.(4033-4035)cagfs p.Q1345fs KIRP 2 230659907 230659907 + Missense_Mutation SNP C C T TCGA-SX-A7SN-01A-11D-A34Z-10 TCGA-SX-A7SN-10A-01D-A34Z-10 g.chr2:230659907C>T c.3731G>A c.(3730-3732)gGg>gAg p.G1244E KIRP 2 230663701 230663701 + Silent SNP T T C TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr2:230663701T>C c.3147A>G c.(3145-3147)acA>acG p.T1049T KIRP 2 230701700 230701702 + Splice_Site DEL ACT ACT - TCGA-BQ-7048-01A-11D-1961-08 TCGA-BQ-7048-11A-01D-1961-08 g.chr2:230701700_230701702delACT c.1008delAGT c.(1006-1008)aga>ag p.R338del LGG 2 230633990 230633990 + Missense_Mutation SNP G G C TCGA-TQ-A7RN-01A-11D-A33T-08 TCGA-TQ-A7RN-10A-01D-A33W-08 g.chr2:230633990G>C c.5635C>G c.(5635-5637)Ctg>Gtg p.L1879V LGG 2 230638967 230638968 + Frame_Shift_Del DEL CT CT - TCGA-HT-7677-01A-11D-2253-08 TCGA-HT-7677-10A-01D-2253-08 g.chr2:230638967_230638968delCT c.5314_5315delAG c.(5314-5316)agtfs p.S1772fs LGG 2 230656709 230656709 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:230656709A>G c.4063T>C c.(4063-4065)Tat>Cat p.Y1355H LGG 2 230668856 230668856 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:230668856A>G c.2513T>C c.(2512-2514)tTa>tCa p.L838S LGG 2 230668911 230668911 + Nonsense_Mutation SNP G G A TCGA-HT-7610-01A-21D-2086-08 TCGA-HT-7610-10A-01D-2086-08 g.chr2:230668911G>A c.2458C>T c.(2458-2460)Cga>Tga p.R820* LGG 2 230672573 230672573 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:230672573T>C c.2203A>G c.(2203-2205)Atg>Gtg p.M735V LGG 2 230672968 230672968 + Splice_Site SNP C C A TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 g.chr2:230672968C>A c.2195G>T c.(2194-2196)tGt>tTt p.C732F LGG 2 230723871 230723871 + Missense_Mutation SNP G G A TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 g.chr2:230723871G>A c.518C>T c.(517-519)gCg>gTg p.A173V LGG 2 230724205 230724206 + Frame_Shift_Ins INS - - C TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 g.chr2:230724205_230724206insC c.183_184insG c.(181-186)gggcagfs p.Q62fs LIHC 2 230632438 230632438 + Silent SNP T T A TCGA-DD-A4NH-01A-11D-A27I-10 TCGA-DD-A4NH-10A-01D-A27I-10 g.chr2:230632438T>A c.5811A>T c.(5809-5811)acA>acT p.T1937T LIHC 2 230632438 230632438 + Silent SNP T T A TCGA-DD-A4NI-01A-11D-A27I-10 TCGA-DD-A4NI-10A-01D-A27I-10 g.chr2:230632438T>A c.5811A>T c.(5809-5811)acA>acT p.T1937T LIHC 2 230638852 230638852 + Silent SNP A A G TCGA-DD-AAC8-01A-11D-A40R-10 TCGA-DD-AAC8-10A-01D-A40U-10 g.chr2:230638852A>G c.5430T>C c.(5428-5430)gaT>gaC p.D1810D LIHC 2 230638898 230638898 + Missense_Mutation SNP G G C TCGA-DD-AADS-01A-11D-A40R-10 TCGA-DD-AADS-10A-01D-A40U-10 g.chr2:230638898G>C c.5384C>G c.(5383-5385)aCt>aGt p.T1795S LIHC 2 230643664 230643664 + Missense_Mutation SNP C C T TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr2:230643664C>T c.4912G>A c.(4912-4914)Gta>Ata p.V1638I LIHC 2 230652245 230652245 + Silent SNP A A G TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr2:230652245A>G c.4746T>C c.(4744-4746)gtT>gtC p.V1582V LIHC 2 230655847 230655847 + Silent SNP T T C TCGA-DD-AACW-01A-11D-A40R-10 TCGA-DD-AACW-10A-01D-A40U-10 g.chr2:230655847T>C c.4311A>G c.(4309-4311)ttA>ttG p.L1437L LIHC 2 230656743 230656743 + Silent SNP C C T TCGA-DD-AACB-01A-11D-A40R-10 TCGA-DD-AACB-10A-01D-A40U-10 g.chr2:230656743C>T c.4029G>A c.(4027-4029)agG>agA p.R1343R LIHC 2 230657707 230657707 + Nonsense_Mutation SNP T T A TCGA-ED-A66Y-01A-11D-A30V-10 TCGA-ED-A66Y-10A-01D-A30V-10 g.chr2:230657707T>A c.3898A>T c.(3898-3900)Aga>Tga p.R1300* LIHC 2 230661327 230661327 + Frame_Shift_Del DEL G G - TCGA-O8-A75V-01A-11D-A32G-10 TCGA-O8-A75V-10A-01D-A32G-10 g.chr2:230661327delG c.3571delC c.(3571-3573)catfs p.H1191fs LIHC 2 230667054 230667054 + Silent SNP G G A TCGA-DD-A1EL-01A-11D-A152-10 TCGA-DD-A1EL-10A-01D-A152-10 g.chr2:230667054G>A c.2895C>T c.(2893-2895)gcC>gcT p.A965A LIHC 2 230668295 230668295 + Missense_Mutation SNP C C T TCGA-KR-A7K7-01A-11D-A33K-10 TCGA-KR-A7K7-10A-01D-A33K-10 g.chr2:230668295C>T c.2765G>A c.(2764-2766)aGa>aAa p.R922K LIHC 2 230672462 230672462 + Missense_Mutation SNP A A T TCGA-2Y-A9GZ-01A-11D-A38X-10 TCGA-2Y-A9GZ-10A-01D-A38X-10 g.chr2:230672462A>T c.2314T>A c.(2314-2316)Tgg>Agg p.W772R LIHC 2 230683119 230683119 + Silent SNP T T C TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr2:230683119T>C c.1416A>G c.(1414-1416)acA>acG p.T472T LIHC 2 230723842 230723842 + Missense_Mutation SNP C C T TCGA-2Y-A9GV-01A-11D-A382-10 TCGA-2Y-A9GV-10A-01D-A385-10 g.chr2:230723842C>T c.547G>A c.(547-549)Gcc>Acc p.A183T LIHC 2 230723949 230723949 + Missense_Mutation SNP T T A TCGA-EP-A2KC-01A-11D-A20W-10 TCGA-EP-A2KC-10A-01D-A20W-10 g.chr2:230723949T>A c.440A>T c.(439-441)cAg>cTg p.Q147L LIHC 2 230724096 230724096 + Missense_Mutation SNP G G A TCGA-FV-A2QQ-01A-11D-A22F-10 TCGA-FV-A2QQ-10B-01D-A22F-10 g.chr2:230724096G>A c.293C>T c.(292-294)aCt>aTt p.T98I LUAD 2 230633332 230633332 + Splice_Site SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr2:230633332C>A c.5782G>T c.(5782-5784)Gga>Tga p.G1928* LUAD 2 230633405 230633405 + Silent SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr2:230633405G>A c.5709C>T c.(5707-5709)ctC>ctT p.L1903L LUAD 2 230642091 230642091 + Silent SNP T T C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 g.chr2:230642091T>C c.5244A>G c.(5242-5244)tcA>tcG p.S1748S LUAD 2 230650530 230650530 + Silent SNP A A C TCGA-L9-A443-01A-12D-A24D-08 TCGA-L9-A443-10A-01D-A24F-08 g.chr2:230650530A>C c.4812T>G c.(4810-4812)tcT>tcG p.S1604S LUAD 2 230654475 230654475 + Missense_Mutation SNP C C T TCGA-17-Z018-01A-01W-0746-08 TCGA-17-Z018-11A-01W-0746-08 g.chr2:230654475C>T c.4322G>A c.(4321-4323)gGa>gAa p.G1441E LUAD 2 230655921 230655921 + Missense_Mutation SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 g.chr2:230655921C>T c.4237G>A c.(4237-4239)Ggt>Agt p.G1413S LUAD 2 230657800 230657800 + Nonsense_Mutation SNP G G A TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr2:230657800G>A c.3805C>T c.(3805-3807)Cag>Tag p.Q1269* LUAD 2 230661315 230661315 + Frame_Shift_Del DEL A A - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr2:230661315delA c.3583delT c.(3583-3585)tctfs p.S1196fs LUAD 2 230661362 230661362 + Missense_Mutation SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 g.chr2:230661362G>A c.3536C>T c.(3535-3537)gCt>gTt p.A1179V LUAD 2 230661452 230661452 + Nonsense_Mutation SNP G G C TCGA-75-5126-01A-01D-1753-08 TCGA-75-5126-10A-01D-1753-08 g.chr2:230661452G>C c.3446C>G c.(3445-3447)tCa>tGa p.S1149* LUAD 2 230661474 230661475 + Frame_Shift_Ins INS - - A TCGA-75-5126-01A-01D-1753-08 TCGA-75-5126-10A-01D-1753-08 g.chr2:230661474_230661475insA c.3423_3424insT c.(3421-3426)cttgtafs p.V1142fs LUAD 2 230662490 230662490 + Silent SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 g.chr2:230662490G>A c.3315C>T c.(3313-3315)ttC>ttT p.F1105F LUAD 2 230667127 230667127 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 g.chr2:230667127G>A c.2822C>T c.(2821-2823)aCa>aTa p.T941I LUAD 2 230670446 230670446 + Splice_Site SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr2:230670446T>A c.2425A>T c.(2425-2427)Agt>Tgt p.S809C LUAD 2 230670512 230670512 + Missense_Mutation SNP T T A TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr2:230670512T>A c.2359A>T c.(2359-2361)Aat>Tat p.N787Y LUAD 2 230675910 230675910 + Missense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 g.chr2:230675910G>A c.1853C>T c.(1852-1854)tCa>tTa p.S618L LUAD 2 230678748 230678748 + Splice_Site SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 g.chr2:230678748C>A c.e12-1 LUAD 2 230679845 230679845 + Silent SNP T T A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 g.chr2:230679845T>A c.1557A>T c.(1555-1557)gtA>gtT p.V519V LUAD 2 230683159 230683160 + Frame_Shift_Del DEL AT AT - TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 g.chr2:230683159_230683160delAT c.1375_1376delAT c.(1375-1377)attfs p.I459fs LUAD 2 230693988 230693988 + Silent SNP C C T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr2:230693988C>T c.1227G>A c.(1225-1227)agG>agA p.R409R LUAD 2 230723591 230723591 + Silent SNP G G A TCGA-55-8208-01A-11D-2238-08 TCGA-55-8208-10A-01D-2238-08 g.chr2:230723591G>A c.798C>T c.(796-798)ttC>ttT p.F266F LUAD 2 230723713 230723713 + Missense_Mutation SNP T T C TCGA-05-5425-01A-02D-1625-08 TCGA-05-5425-10A-01D-1625-08 g.chr2:230723713T>C c.676A>G c.(676-678)Aaa>Gaa p.K226E LUAD 2 230723819 230723819 + Nonsense_Mutation SNP A A T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr2:230723819A>T c.570T>A c.(568-570)tgT>tgA p.C190* LUAD 2 230723835 230723835 + Nonsense_Mutation SNP G G C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 g.chr2:230723835G>C c.554C>G c.(553-555)tCa>tGa p.S185* LUAD 2 230724103 230724103 + Nonsense_Mutation SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 g.chr2:230724103G>A c.286C>T c.(286-288)Cag>Tag p.Q96* LUAD 2 230724133 230724133 + Missense_Mutation SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 g.chr2:230724133G>A c.256C>T c.(256-258)Cct>Tct p.P86S LUAD 2 230744731 230744731 + Missense_Mutation SNP C C G TCGA-55-1595-01A-01D-0969-08 TCGA-55-1595-11A-01D-0969-08 g.chr2:230744731C>G c.65G>C c.(64-66)gGg>gCg p.G22A LUAD 2 230744732 230744732 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr2:230744732C>A c.64G>T c.(64-66)Ggg>Tgg p.G22W LUAD 2 230744779 230744779 + Missense_Mutation SNP T T C TCGA-91-8497-01A-11D-2393-08 TCGA-91-8497-10A-01D-2393-08 g.chr2:230744779T>C c.17A>G c.(16-18)aAt>aGt p.N6S LUSC 2 230638826 230638827 + Missense_Mutation DNP TC TC AA TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr2:230638826_230638827TC>AA c.5455_5456GA>TT c.(5455-5457)GAg>TTg p.E1819L LUSC 2 230638891 230638891 + Silent SNP T T A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 g.chr2:230638891T>A c.5391A>T c.(5389-5391)ccA>ccT p.P1797P LUSC 2 230643175 230643175 + Missense_Mutation SNP C C T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 g.chr2:230643175C>T c.5113G>A c.(5113-5115)Gcc>Acc p.A1705T LUSC 2 230643658 230643658 + Missense_Mutation SNP G G C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 g.chr2:230643658G>C c.4918C>G c.(4918-4920)Cag>Gag p.Q1640E LUSC 2 230650556 230650556 + Missense_Mutation SNP C C G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 g.chr2:230650556C>G c.4786G>C c.(4786-4788)Gag>Cag p.E1596Q LUSC 2 230657770 230657770 + Missense_Mutation SNP C C T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 g.chr2:230657770C>T c.3835G>A c.(3835-3837)Gtg>Atg p.V1279M LUSC 2 230659957 230659957 + Missense_Mutation SNP G G C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 g.chr2:230659957G>C c.3681C>G c.(3679-3681)agC>agG p.S1227R LUSC 2 230678586 230678586 + Splice_Site SNP C C G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 g.chr2:230678586C>G c.1842G>C c.(1840-1842)caG>caC p.Q614H LUSC 2 230678590 230678590 + Missense_Mutation SNP T T C TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 g.chr2:230678590T>C c.1838A>G c.(1837-1839)cAt>cGt p.H613R LUSC 2 230678991 230678991 + Missense_Mutation SNP C C A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 g.chr2:230678991C>A c.1638G>T c.(1636-1638)ttG>ttT p.L546F LUSC 2 230724207 230724207 + Missense_Mutation SNP C C T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 g.chr2:230724207C>T c.182G>A c.(181-183)gGg>gAg p.G61E OV 2 230650512 230650512 + Silent SNP G G A TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 g.chr2:230650512G>A c.4830C>T c.(4828-4830)ggC>ggT p.G1610G OV 2 230657764 230657764 + Missense_Mutation SNP G G C TCGA-24-1422-01A-01W-0545-08 TCGA-24-1422-10A-01W-0545-08 g.chr2:230657764G>C c.3841C>G c.(3841-3843)Cag>Gag p.Q1281E OV 2 230668915 230668915 + Missense_Mutation SNP A A T TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 g.chr2:230668915A>T c.2454T>A c.(2452-2454)gaT>gaA p.D818E OV 2 230683210 230683210 + Missense_Mutation SNP A A T TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 g.chr2:230683210A>T c.1325T>A c.(1324-1326)cTa>cAa p.L442Q OV 2 230723854 230723854 + Missense_Mutation SNP C C T TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 g.chr2:230723854C>T c.535G>A c.(535-537)Gct>Act p.A179T PAAD 2 230636293 230636293 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:230636293C>A c.5525G>T c.(5524-5526)aGa>aTa p.R1842I PAAD 2 230643255 230643255 + Missense_Mutation SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 g.chr2:230643255G>A c.5033C>T c.(5032-5034)gCg>gTg p.A1678V PAAD 2 230667001 230667001 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:230667001C>A c.2948G>T c.(2947-2949)aGc>aTc p.S983I PAAD 2 230724186 230724186 + Missense_Mutation SNP T T G TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 g.chr2:230724186T>G c.203A>C c.(202-204)aAt>aCt p.N68T PRAD 2 230656648 230656649 + Frame_Shift_Del DEL TC TC - TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 g.chr2:230656648_230656649delTC c.4123_4124delGA c.(4123-4125)gaafs p.E1375fs PRAD 2 230657838 230657838 + Missense_Mutation SNP T T C TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 g.chr2:230657838T>C c.3767A>G c.(3766-3768)cAg>cGg p.Q1256R PRAD 2 230662405 230662405 + Splice_Site DEL C C - TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 g.chr2:230662405delC c.e23+1 PRAD 2 230705619 230705619 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:230705619C>T c.926G>A c.(925-927)cGc>cAc p.R309H READ 2 230652244 230652244 + Missense_Mutation SNP C C A TCGA-AF-6655-01A-11D-1826-10 TCGA-AF-6655-10A-01D-1826-10 g.chr2:230652244C>A c.4747G>T c.(4747-4749)Gca>Tca p.A1583S READ 2 230672555 230672555 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:230672555C>A c.2221G>T c.(2221-2223)Gaa>Taa p.E741* READ 2 230679861 230679861 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:230679861C>T c.1541G>A c.(1540-1542)cGa>cAa p.R514Q READ 2 230693939 230693939 + Missense_Mutation SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr2:230693939G>A c.1276C>T c.(1276-1278)Ctt>Ttt p.L426F SARC 2 230683116 230683116 + Silent SNP C C T TCGA-DX-A6BF-01A-11D-A307-09 TCGA-DX-A6BF-10A-01D-A307-09 g.chr2:230683116C>T c.1419G>A c.(1417-1419)ctG>ctA p.L473L SARC 2 230723648 230723648 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr2:230723648C>T c.741G>A c.(739-741)agG>agA p.R247R SKCM 2 230632389 230632389 + Missense_Mutation SNP G G A TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr2:230632389G>A c.5860C>T c.(5860-5862)Ccc>Tcc p.P1954S SKCM 2 230636271 230636271 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 g.chr2:230636271G>A c.5547C>T c.(5545-5547)ttC>ttT p.F1849F SKCM 2 230643226 230643226 + Missense_Mutation SNP C C T TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr2:230643226C>T c.5062G>A c.(5062-5064)Gct>Act p.A1688T SKCM 2 230643656 230643656 + Missense_Mutation SNP C C A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr2:230643656C>A c.4920G>T c.(4918-4920)caG>caT p.Q1640H SKCM 2 230652368 230652368 + Silent SNP G G A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 g.chr2:230652368G>A c.4623C>T c.(4621-4623)ttC>ttT p.F1541F SKCM 2 230654432 230654432 + Silent SNP A A T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 g.chr2:230654432A>T c.4365T>A c.(4363-4365)atT>atA p.I1455I SKCM 2 230655878 230655878 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 g.chr2:230655878G>A c.4280C>T c.(4279-4281)tCc>tTc p.S1427F SKCM 2 230655911 230655911 + Missense_Mutation SNP C C T TCGA-EE-A2GM-06B-11D-A196-08 TCGA-EE-A2GM-10A-01D-A198-08 g.chr2:230655911C>T c.4247G>A c.(4246-4248)aGa>aAa p.R1416K SKCM 2 230656937 230656937 + Nonsense_Mutation SNP C C A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr2:230656937C>A c.3922G>T c.(3922-3924)Gga>Tga p.G1308* SKCM 2 230660029 230660029 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr2:230660029G>A c.3609C>T c.(3607-3609)ccC>ccT p.P1203P SKCM 2 230661346 230661346 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr2:230661346G>A c.3552C>T c.(3550-3552)atC>atT p.I1184I SKCM 2 230663753 230663753 + Missense_Mutation SNP G G A TCGA-EE-A2GM-06B-11D-A196-08 TCGA-EE-A2GM-10A-01D-A198-08 g.chr2:230663753G>A c.3095C>T c.(3094-3096)aCc>aTc p.T1032I SKCM 2 230675852 230675852 + Splice_Site SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 g.chr2:230675852C>T c.1911G>A c.(1909-1911)gaG>gaA p.E637E SKCM 2 230683105 230683105 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr2:230683105G>A c.1430C>T c.(1429-1431)cCt>cTt p.P477L SKCM 2 230683171 230683171 + Missense_Mutation SNP A A G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 g.chr2:230683171A>G c.1364T>C c.(1363-1365)cTt>cCt p.L455P SKCM 2 230693983 230693983 + Missense_Mutation SNP A A C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 g.chr2:230693983A>C c.1232T>G c.(1231-1233)cTt>cGt p.L411R SKCM 2 230695492 230695492 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 g.chr2:230695492G>A c.1190C>T c.(1189-1191)tCc>tTc p.S397F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 2 230659908 230659908 single base substitution C T downstream_gene_variant ALL-US 2 230659908 230659908 single base substitution C T exon_variant ALL-US 2 230659908 230659908 single base substitution C T missense_variant G1244R 3730G>A ALL-US 2 230659908 230659908 single base substitution C T missense_variant G1292R 3874G>A ALL-US 2 230659908 230659908 single base substitution C T missense_variant G974R 2920G>A ALL-US 2 230659908 230659908 single base substitution C T upstream_gene_variant BLCA-CN 2 230724123 230724123 single base substitution G C exon_variant BLCA-CN 2 230724123 230724123 single base substitution G C intron_variant BLCA-CN 2 230724123 230724123 single base substitution G C missense_variant A131G 392C>G BLCA-CN 2 230724123 230724123 single base substitution G C missense_variant A89G 266C>G BLCA-CN 2 230724123 230724123 single base substitution G C upstream_gene_variant BLCA-US 2 230636274 230636274 single base substitution G C downstream_gene_variant BLCA-US 2 230636274 230636274 single base substitution G C intron_variant BLCA-US 2 230636274 230636274 single base substitution G C synonymous_variant V1578V 4734C>G BLCA-US 2 230636274 230636274 single base substitution G C synonymous_variant V1848V 5544C>G BLCA-US 2 230636274 230636274 single base substitution G C synonymous_variant V1896V 5688C>G BLCA-US 2 230650558 230650558 single base substitution C T missense_variant R1325Q 3974G>A BLCA-US 2 230650558 230650558 single base substitution C T missense_variant R1595Q 4784G>A BLCA-US 2 230650558 230650558 single base substitution C T missense_variant R1643Q 4928G>A BLCA-US 2 230656622 230656622 single base substitution G A downstream_gene_variant BLCA-US 2 230656622 230656622 single base substitution G A exon_variant BLCA-US 2 230656622 230656622 single base substitution G A synonymous_variant L1114L 3340C>T BLCA-US 2 230656622 230656622 single base substitution G A synonymous_variant L1384L 4150C>T BLCA-US 2 230656622 230656622 single base substitution G A synonymous_variant L1432L 4294C>T BLCA-US 2 230656630 230656630 single base substitution C A downstream_gene_variant BLCA-US 2 230656630 230656630 single base substitution C A exon_variant BLCA-US 2 230656630 230656630 single base substitution C A missense_variant S1111I 3332G>T BLCA-US 2 230656630 230656630 single base substitution C A missense_variant S1381I 4142G>T BLCA-US 2 230656630 230656630 single base substitution C A missense_variant S1429I 4286G>T BLCA-US 2 230661454 230661454 single base substitution G A 3_prime_UTR_variant BLCA-US 2 230661454 230661454 single base substitution G A synonymous_variant V1148V 3444C>T BLCA-US 2 230661454 230661454 single base substitution G A synonymous_variant V1196V 3588C>T BLCA-US 2 230661454 230661454 single base substitution G A synonymous_variant V878V 2634C>T BLCA-US 2 230661454 230661454 single base substitution G A upstream_gene_variant BLCA-US 2 230723619 230723619 single base substitution G A downstream_gene_variant BLCA-US 2 230723619 230723619 single base substitution G A exon_variant BLCA-US 2 230723619 230723619 single base substitution G A intron_variant BLCA-US 2 230723619 230723619 single base substitution G A missense_variant S257F 770C>T BLCA-US 2 230723619 230723619 single base substitution G A missense_variant S299F 896C>T BLCA-US 2 230723895 230723895 single base substitution G C downstream_gene_variant BLCA-US 2 230723895 230723895 single base substitution G C exon_variant BLCA-US 2 230723895 230723895 single base substitution G C intron_variant BLCA-US 2 230723895 230723895 single base substitution G C stop_gained S165* 494C>G BLCA-US 2 230723895 230723895 single base substitution G C stop_gained S207* 620C>G BLCA-US 2 230723895 230723895 single base substitution G C stop_gained S35* 104C>G BLCA-US 2 230723948 230723948 single base substitution C A downstream_gene_variant BLCA-US 2 230723948 230723948 single base substitution C A exon_variant BLCA-US 2 230723948 230723948 single base substitution C A intron_variant BLCA-US 2 230723948 230723948 single base substitution C A missense_variant Q147H 441G>T BLCA-US 2 230723948 230723948 single base substitution C A missense_variant Q17H 51G>T BLCA-US 2 230723948 230723948 single base substitution C A missense_variant Q189H 567G>T BLCA-US 2 230787323 230787323 single base substitution C G intron_variant BLCA-US 2 230787323 230787323 single base substitution C G upstream_gene_variant BOCA-FR 2 230694357 230694357 single base substitution C T downstream_gene_variant BOCA-FR 2 230694357 230694357 single base substitution C T intron_variant BRCA-EU 2 230624040 230624040 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 230625792 230625792 insertion of <=200bp - T downstream_gene_variant BRCA-EU 2 230625850 230625850 single base substitution A G downstream_gene_variant BRCA-EU 2 230630791 230630791 single base substitution A G 3_prime_UTR_variant BRCA-EU 2 230630791 230630791 single base substitution A G downstream_gene_variant BRCA-EU 2 230632152 230632152 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 230632152 230632152 single base substitution G A downstream_gene_variant BRCA-EU 2 230635711 230635711 single base substitution C G downstream_gene_variant BRCA-EU 2 230635711 230635711 single base substitution C G intron_variant BRCA-EU 2 230636988 230636988 single base substitution A G downstream_gene_variant BRCA-EU 2 230636988 230636988 single base substitution A G intron_variant BRCA-EU 2 230637925 230637925 single base substitution G A downstream_gene_variant BRCA-EU 2 230637925 230637925 single base substitution G A intron_variant BRCA-EU 2 230638124 230638124 single base substitution C T downstream_gene_variant BRCA-EU 2 230638124 230638124 single base substitution C T intron_variant BRCA-EU 2 230640378 230640378 single base substitution A T intron_variant BRCA-EU 2 230640810 230640810 single base substitution T C intron_variant BRCA-EU 2 230641830 230641830 single base substitution C G intron_variant BRCA-EU 2 230647275 230647275 single base substitution G A intron_variant BRCA-EU 2 230647275 230647275 single base substitution G A upstream_gene_variant BRCA-EU 2 230647825 230647825 single base substitution C T intron_variant BRCA-EU 2 230647825 230647825 single base substitution C T upstream_gene_variant BRCA-EU 2 230648593 230648593 single base substitution G A intron_variant BRCA-EU 2 230648695 230648695 single base substitution G A intron_variant BRCA-EU 2 230649165 230649165 single base substitution T C intron_variant BRCA-EU 2 230650014 230650014 single base substitution G C intron_variant BRCA-EU 2 230650228 230650228 single base substitution T C intron_variant BRCA-EU 2 230653014 230653014 single base substitution G A downstream_gene_variant BRCA-EU 2 230653014 230653014 single base substitution G A intron_variant BRCA-EU 2 230656081 230656082 deletion of <=200bp CT - downstream_gene_variant BRCA-EU 2 230656081 230656082 deletion of <=200bp CT - intron_variant BRCA-EU 2 230657667 230657667 single base substitution G T downstream_gene_variant BRCA-EU 2 230657667 230657667 single base substitution G T intron_variant BRCA-EU 2 230657689 230657689 single base substitution C T downstream_gene_variant BRCA-EU 2 230657689 230657689 single base substitution C T missense_variant G1036R 3106G>A BRCA-EU 2 230657689 230657689 single base substitution C T missense_variant G1306R 3916G>A BRCA-EU 2 230657689 230657689 single base substitution C T missense_variant G1354R 4060G>A BRCA-EU 2 230657689 230657689 single base substitution C T splice_region_variant BRCA-EU 2 230657878 230657878 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 230657878 230657878 deletion of <=200bp A - exon_variant BRCA-EU 2 230657878 230657878 deletion of <=200bp A - intron_variant BRCA-EU 2 230657878 230657878 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 230659223 230659223 single base substitution A G downstream_gene_variant BRCA-EU 2 230659223 230659223 single base substitution A G intron_variant BRCA-EU 2 230659223 230659223 single base substitution A G upstream_gene_variant BRCA-EU 2 230661336 230661336 single base substitution G A downstream_gene_variant BRCA-EU 2 230661336 230661336 single base substitution G A exon_variant BRCA-EU 2 230661336 230661336 single base substitution G A stop_gained R1188* 3562C>T BRCA-EU 2 230661336 230661336 single base substitution G A stop_gained R1236* 3706C>T BRCA-EU 2 230661336 230661336 single base substitution G A stop_gained R918* 2752C>T BRCA-EU 2 230661336 230661336 single base substitution G A upstream_gene_variant BRCA-EU 2 230663149 230663149 single base substitution G C downstream_gene_variant BRCA-EU 2 230663149 230663149 single base substitution G C intron_variant BRCA-EU 2 230663149 230663149 single base substitution G C upstream_gene_variant BRCA-EU 2 230664434 230664434 single base substitution T C downstream_gene_variant BRCA-EU 2 230664434 230664434 single base substitution T C intron_variant BRCA-EU 2 230664434 230664434 single base substitution T C upstream_gene_variant BRCA-EU 2 230664953 230664953 single base substitution A C downstream_gene_variant BRCA-EU 2 230664953 230664953 single base substitution A C intron_variant BRCA-EU 2 230664953 230664953 single base substitution A C upstream_gene_variant BRCA-EU 2 230665703 230665703 single base substitution T A downstream_gene_variant BRCA-EU 2 230665703 230665703 single base substitution T A intron_variant BRCA-EU 2 230665703 230665703 single base substitution T A upstream_gene_variant BRCA-EU 2 230667072 230667072 single base substitution T G downstream_gene_variant BRCA-EU 2 230667072 230667072 single base substitution T G exon_variant BRCA-EU 2 230667072 230667072 single base substitution T G intron_variant BRCA-EU 2 230667072 230667072 single base substitution T G synonymous_variant S1007S 3021A>C BRCA-EU 2 230667072 230667072 single base substitution T G synonymous_variant S689S 2067A>C BRCA-EU 2 230667072 230667072 single base substitution T G synonymous_variant S959S 2877A>C BRCA-EU 2 230668954 230668954 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 230668954 230668954 deletion of <=200bp A - intron_variant BRCA-EU 2 230668978 230668978 single base substitution G A downstream_gene_variant BRCA-EU 2 230668978 230668978 single base substitution G A intron_variant BRCA-EU 2 230670217 230670217 single base substitution G A downstream_gene_variant BRCA-EU 2 230670217 230670217 single base substitution G A intron_variant BRCA-EU 2 230670782 230670782 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 230670782 230670782 deletion of <=200bp T - exon_variant BRCA-EU 2 230670782 230670782 deletion of <=200bp T - intron_variant BRCA-EU 2 230670961 230670961 single base substitution A T downstream_gene_variant BRCA-EU 2 230670961 230670961 single base substitution A T intron_variant BRCA-EU 2 230670961 230670961 single base substitution A T upstream_gene_variant BRCA-EU 2 230670984 230670984 single base substitution A T downstream_gene_variant BRCA-EU 2 230670984 230670984 single base substitution A T intron_variant BRCA-EU 2 230670984 230670984 single base substitution A T upstream_gene_variant BRCA-EU 2 230673409 230673409 single base substitution C T downstream_gene_variant BRCA-EU 2 230673409 230673409 single base substitution C T intron_variant BRCA-EU 2 230673409 230673409 single base substitution C T upstream_gene_variant BRCA-EU 2 230674847 230674847 single base substitution G C downstream_gene_variant BRCA-EU 2 230674847 230674847 single base substitution G C intron_variant BRCA-EU 2 230674847 230674847 single base substitution G C upstream_gene_variant BRCA-EU 2 230675082 230675082 single base substitution C G downstream_gene_variant BRCA-EU 2 230675082 230675082 single base substitution C G intron_variant BRCA-EU 2 230675082 230675082 single base substitution C G upstream_gene_variant BRCA-EU 2 230676270 230676270 single base substitution G C intron_variant BRCA-EU 2 230676443 230676443 single base substitution A G intron_variant BRCA-EU 2 230677944 230677944 single base substitution C T intron_variant BRCA-EU 2 230678483 230678483 single base substitution G C intron_variant BRCA-EU 2 230678688 230678688 single base substitution A G exon_variant BRCA-EU 2 230678688 230678688 single base substitution A G intron_variant BRCA-EU 2 230678688 230678688 single base substitution A G synonymous_variant N283N 849T>C BRCA-EU 2 230678688 230678688 single base substitution A G synonymous_variant N580N 1740T>C BRCA-EU 2 230678688 230678688 single base substitution A G synonymous_variant N628N 1884T>C BRCA-EU 2 230678781 230678781 single base substitution A T intron_variant BRCA-EU 2 230679137 230679137 single base substitution A T exon_variant BRCA-EU 2 230679137 230679137 single base substitution A T intron_variant BRCA-EU 2 230680217 230680217 single base substitution C G intron_variant BRCA-EU 2 230680217 230680217 single base substitution C G upstream_gene_variant BRCA-EU 2 230680478 230680478 single base substitution C T intron_variant BRCA-EU 2 230680478 230680478 single base substitution C T upstream_gene_variant BRCA-EU 2 230681491 230681491 single base substitution A T intron_variant BRCA-EU 2 230681491 230681491 single base substitution A T upstream_gene_variant BRCA-EU 2 230681801 230681801 single base substitution G A intron_variant BRCA-EU 2 230681801 230681801 single base substitution G A upstream_gene_variant BRCA-EU 2 230682186 230682186 single base substitution A G intron_variant BRCA-EU 2 230682186 230682186 single base substitution A G upstream_gene_variant BRCA-EU 2 230683224 230683224 single base substitution A C exon_variant BRCA-EU 2 230683224 230683224 single base substitution A C intron_variant BRCA-EU 2 230683224 230683224 single base substitution A C synonymous_variant S140S 420T>G BRCA-EU 2 230683224 230683224 single base substitution A C synonymous_variant S437S 1311T>G BRCA-EU 2 230683224 230683224 single base substitution A C synonymous_variant S485S 1455T>G BRCA-EU 2 230683224 230683224 single base substitution A C upstream_gene_variant BRCA-EU 2 230684764 230684764 single base substitution G C intron_variant BRCA-EU 2 230684908 230684908 single base substitution G C intron_variant BRCA-EU 2 230685544 230685544 deletion of <=200bp G - intron_variant BRCA-EU 2 230685578 230685578 single base substitution T A intron_variant BRCA-EU 2 230685669 230685669 single base substitution A C intron_variant BRCA-EU 2 230686677 230686677 single base substitution G A intron_variant BRCA-EU 2 230687673 230687674 deletion of <=200bp GC - intron_variant BRCA-EU 2 230688770 230688770 deletion of <=200bp A - intron_variant BRCA-EU 2 230689463 230689463 single base substitution C A intron_variant BRCA-EU 2 230691324 230691324 single base substitution G A downstream_gene_variant BRCA-EU 2 230691324 230691324 single base substitution G A intron_variant BRCA-EU 2 230692217 230692217 single base substitution T C downstream_gene_variant BRCA-EU 2 230692217 230692217 single base substitution T C intron_variant BRCA-EU 2 230692279 230692279 single base substitution G A downstream_gene_variant BRCA-EU 2 230692279 230692279 single base substitution G A intron_variant BRCA-EU 2 230692534 230692534 insertion of <=200bp - T downstream_gene_variant BRCA-EU 2 230692534 230692534 insertion of <=200bp - T intron_variant BRCA-EU 2 230693121 230693124 deletion of <=200bp AAAC - downstream_gene_variant BRCA-EU 2 230693121 230693124 deletion of <=200bp AAAC - intron_variant BRCA-EU 2 230693487 230693487 single base substitution A T downstream_gene_variant BRCA-EU 2 230693487 230693487 single base substitution A T intron_variant BRCA-EU 2 230694699 230694699 single base substitution G A downstream_gene_variant BRCA-EU 2 230694699 230694699 single base substitution G A intron_variant BRCA-EU 2 230694884 230694884 insertion of <=200bp - A downstream_gene_variant BRCA-EU 2 230694884 230694884 insertion of <=200bp - A intron_variant BRCA-EU 2 230695324 230695324 single base substitution A T downstream_gene_variant BRCA-EU 2 230695324 230695324 single base substitution A T intron_variant BRCA-EU 2 230695384 230695384 single base substitution G A downstream_gene_variant BRCA-EU 2 230695384 230695384 single base substitution G A intron_variant BRCA-EU 2 230696683 230696683 single base substitution T C downstream_gene_variant BRCA-EU 2 230696683 230696683 single base substitution T C intron_variant BRCA-EU 2 230701172 230701172 single base substitution G A downstream_gene_variant BRCA-EU 2 230701172 230701172 single base substitution G A intron_variant BRCA-EU 2 230703524 230703524 single base substitution T A intron_variant BRCA-EU 2 230703877 230703877 single base substitution G C intron_variant BRCA-EU 2 230704160 230704160 single base substitution G C intron_variant BRCA-EU 2 230705954 230705954 insertion of <=200bp - T intron_variant BRCA-EU 2 230706052 230706052 single base substitution T G intron_variant BRCA-EU 2 230708227 230708227 single base substitution G C intron_variant BRCA-EU 2 230708649 230708649 insertion of <=200bp - A intron_variant BRCA-EU 2 230709142 230709142 single base substitution G A intron_variant BRCA-EU 2 230712285 230712285 single base substitution G C intron_variant BRCA-EU 2 230713556 230713556 single base substitution C T intron_variant BRCA-EU 2 230713843 230713843 single base substitution C T intron_variant BRCA-EU 2 230714563 230714563 single base substitution A G intron_variant BRCA-EU 2 230715213 230715213 single base substitution G A intron_variant BRCA-EU 2 230715758 230715758 single base substitution C T intron_variant BRCA-EU 2 230716722 230716722 single base substitution G T intron_variant BRCA-EU 2 230717669 230717669 single base substitution C T intron_variant BRCA-EU 2 230721126 230721126 single base substitution C T downstream_gene_variant BRCA-EU 2 230721126 230721126 single base substitution C T intron_variant BRCA-EU 2 230723538 230723538 single base substitution T G downstream_gene_variant BRCA-EU 2 230723538 230723538 single base substitution T G exon_variant BRCA-EU 2 230723538 230723538 single base substitution T G intron_variant BRCA-EU 2 230723538 230723538 single base substitution T G missense_variant K125T 374A>C BRCA-EU 2 230723538 230723538 single base substitution T G missense_variant K284T 851A>C BRCA-EU 2 230723538 230723538 single base substitution T G missense_variant K326T 977A>C BRCA-EU 2 230724116 230724116 insertion of <=200bp - T exon_variant BRCA-EU 2 230724116 230724116 insertion of <=200bp - T frameshift_variant K133K? BRCA-EU 2 230724116 230724116 insertion of <=200bp - T frameshift_variant K91K? BRCA-EU 2 230724116 230724116 insertion of <=200bp - T intron_variant BRCA-EU 2 230724116 230724116 insertion of <=200bp - T upstream_gene_variant BRCA-EU 2 230724241 230724241 single base substitution C G exon_variant BRCA-EU 2 230724241 230724241 single base substitution C G intron_variant BRCA-EU 2 230724241 230724241 single base substitution C G missense_variant D50H 148G>C BRCA-EU 2 230724241 230724241 single base substitution C G missense_variant D92H 274G>C BRCA-EU 2 230724241 230724241 single base substitution C G upstream_gene_variant BRCA-EU 2 230724848 230724848 single base substitution G A intron_variant BRCA-EU 2 230724848 230724848 single base substitution G A upstream_gene_variant BRCA-EU 2 230725999 230725999 single base substitution G C intron_variant BRCA-EU 2 230725999 230725999 single base substitution G C upstream_gene_variant BRCA-EU 2 230726212 230726212 insertion of <=200bp - A intron_variant BRCA-EU 2 230726212 230726212 insertion of <=200bp - A upstream_gene_variant BRCA-EU 2 230726245 230726245 deletion of <=200bp A - intron_variant BRCA-EU 2 230726245 230726245 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 230726611 230726611 insertion of <=200bp - A intron_variant BRCA-EU 2 230726611 230726611 insertion of <=200bp - A upstream_gene_variant BRCA-EU 2 230728438 230728438 single base substitution T G intron_variant BRCA-EU 2 230728438 230728438 single base substitution T G upstream_gene_variant BRCA-EU 2 230729456 230729456 single base substitution G A intron_variant BRCA-EU 2 230729831 230729839 deletion of <=200bp CAGCCTGGG - intron_variant BRCA-EU 2 230729887 230729887 single base substitution G C intron_variant BRCA-EU 2 230730634 230730634 single base substitution G T intron_variant BRCA-EU 2 230731814 230731814 single base substitution T C intron_variant BRCA-EU 2 230732571 230732571 deletion of <=200bp G - intron_variant BRCA-EU 2 230733440 230733440 single base substitution G T intron_variant BRCA-EU 2 230734254 230734254 single base substitution T C intron_variant BRCA-EU 2 230734355 230734355 single base substitution C A intron_variant BRCA-EU 2 230737064 230737064 single base substitution G C intron_variant BRCA-EU 2 230738731 230738731 single base substitution G C intron_variant BRCA-EU 2 230738856 230738856 single base substitution T C intron_variant BRCA-EU 2 230739914 230739914 single base substitution G A intron_variant BRCA-EU 2 230741111 230741111 single base substitution T A intron_variant BRCA-EU 2 230742026 230742026 single base substitution C G intron_variant BRCA-EU 2 230742171 230742171 single base substitution C T intron_variant BRCA-EU 2 230743300 230743300 single base substitution T A intron_variant BRCA-EU 2 230744676 230744676 single base substitution C G intron_variant BRCA-EU 2 230745293 230745293 single base substitution G C intron_variant BRCA-EU 2 230745486 230745486 single base substitution C A intron_variant BRCA-EU 2 230746054 230746054 single base substitution T G intron_variant BRCA-EU 2 230747353 230747353 single base substitution A G intron_variant BRCA-EU 2 230747987 230747987 single base substitution A T intron_variant BRCA-EU 2 230748567 230748567 insertion of <=200bp - AAACAA intron_variant BRCA-EU 2 230749360 230749360 single base substitution G A intron_variant BRCA-EU 2 230749612 230749612 single base substitution G C intron_variant BRCA-EU 2 230749973 230749973 single base substitution G C intron_variant BRCA-EU 2 230750053 230750053 single base substitution A C intron_variant BRCA-EU 2 230750299 230750299 single base substitution A G intron_variant BRCA-EU 2 230750387 230750387 single base substitution G A intron_variant BRCA-EU 2 230750762 230750762 single base substitution T A intron_variant BRCA-EU 2 230751762 230751762 single base substitution G A intron_variant BRCA-EU 2 230752937 230752937 single base substitution A G intron_variant BRCA-EU 2 230753546 230753546 single base substitution G A intron_variant BRCA-EU 2 230753767 230753767 single base substitution G A intron_variant BRCA-EU 2 230753886 230753886 single base substitution G A intron_variant BRCA-EU 2 230753889 230753889 single base substitution G A intron_variant BRCA-EU 2 230755048 230755048 single base substitution G A intron_variant BRCA-EU 2 230756509 230756509 single base substitution C A intron_variant BRCA-EU 2 230757062 230757062 single base substitution G A intron_variant BRCA-EU 2 230757877 230757877 single base substitution T C intron_variant BRCA-EU 2 230758287 230758287 single base substitution A G intron_variant BRCA-EU 2 230758392 230758392 single base substitution G T intron_variant BRCA-EU 2 230758916 230758916 single base substitution T A intron_variant BRCA-EU 2 230759195 230759195 deletion of <=200bp A - intron_variant BRCA-EU 2 230759956 230759956 single base substitution G C intron_variant BRCA-EU 2 230760163 230760163 single base substitution A G intron_variant BRCA-EU 2 230760286 230760286 single base substitution G A intron_variant BRCA-EU 2 230760386 230760386 single base substitution T C intron_variant BRCA-EU 2 230760905 230760905 single base substitution T A intron_variant BRCA-EU 2 230761175 230761175 single base substitution G A intron_variant BRCA-EU 2 230761887 230761887 single base substitution G A intron_variant BRCA-EU 2 230762195 230762195 single base substitution C T intron_variant BRCA-EU 2 230762979 230762979 deletion of <=200bp T - intron_variant BRCA-EU 2 230763019 230763019 single base substitution C T intron_variant BRCA-EU 2 230764086 230764086 insertion of <=200bp - A intron_variant BRCA-EU 2 230765723 230765723 single base substitution C T intron_variant BRCA-EU 2 230766155 230766155 single base substitution G A intron_variant BRCA-EU 2 230766474 230766474 single base substitution C A intron_variant BRCA-EU 2 230766857 230766857 single base substitution G A intron_variant BRCA-EU 2 230766927 230766927 single base substitution C T intron_variant BRCA-EU 2 230767371 230767371 insertion of <=200bp - T intron_variant BRCA-EU 2 230767864 230767864 single base substitution C G intron_variant BRCA-EU 2 230768469 230768469 single base substitution T C intron_variant BRCA-EU 2 230774107 230774107 single base substitution A C intron_variant BRCA-EU 2 230774691 230774691 single base substitution T C intron_variant BRCA-EU 2 230775239 230775239 single base substitution G A intron_variant BRCA-EU 2 230782183 230782183 single base substitution T A intron_variant BRCA-EU 2 230782206 230782206 single base substitution A G intron_variant BRCA-EU 2 230782664 230782664 single base substitution C T intron_variant BRCA-EU 2 230782677 230782677 single base substitution C A intron_variant BRCA-EU 2 230783270 230783270 single base substitution A C intron_variant BRCA-EU 2 230785716 230785749 deletion of <=200bp ATTGGGGTGACAATTGGCCCACCTCCCTCCCCCA - intron_variant BRCA-EU 2 230786935 230786935 single base substitution G C intron_variant BRCA-EU 2 230786935 230786935 single base substitution G C upstream_gene_variant BRCA-EU 2 230792011 230792011 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 230792393 230792393 single base substitution G A upstream_gene_variant BRCA-EU 2 230792695 230792695 single base substitution C A upstream_gene_variant BRCA-FR 2 230656006 230656006 single base substitution T C downstream_gene_variant BRCA-FR 2 230656006 230656006 single base substitution T C intron_variant BRCA-FR 2 230657667 230657667 single base substitution G T downstream_gene_variant BRCA-FR 2 230657667 230657667 single base substitution G T intron_variant BRCA-FR 2 230657689 230657689 single base substitution C T downstream_gene_variant BRCA-FR 2 230657689 230657689 single base substitution C T missense_variant G1036R 3106G>A BRCA-FR 2 230657689 230657689 single base substitution C T missense_variant G1306R 3916G>A BRCA-FR 2 230657689 230657689 single base substitution C T missense_variant G1354R 4060G>A BRCA-FR 2 230657689 230657689 single base substitution C T splice_region_variant BRCA-FR 2 230661488 230661488 single base substitution C A 3_prime_UTR_variant BRCA-FR 2 230661488 230661488 single base substitution C A missense_variant G1137V 3410G>T BRCA-FR 2 230661488 230661488 single base substitution C A missense_variant G1185V 3554G>T BRCA-FR 2 230661488 230661488 single base substitution C A missense_variant G867V 2600G>T BRCA-FR 2 230661488 230661488 single base substitution C A upstream_gene_variant BRCA-FR 2 230664937 230664937 single base substitution C A downstream_gene_variant BRCA-FR 2 230664937 230664937 single base substitution C A intron_variant BRCA-FR 2 230664937 230664937 single base substitution C A upstream_gene_variant BRCA-FR 2 230678688 230678688 single base substitution A G exon_variant BRCA-FR 2 230678688 230678688 single base substitution A G intron_variant BRCA-FR 2 230678688 230678688 single base substitution A G synonymous_variant N283N 849T>C BRCA-FR 2 230678688 230678688 single base substitution A G synonymous_variant N580N 1740T>C BRCA-FR 2 230678688 230678688 single base substitution A G synonymous_variant N628N 1884T>C BRCA-FR 2 230683224 230683224 single base substitution A C exon_variant BRCA-FR 2 230683224 230683224 single base substitution A C intron_variant BRCA-FR 2 230683224 230683224 single base substitution A C synonymous_variant S140S 420T>G BRCA-FR 2 230683224 230683224 single base substitution A C synonymous_variant S437S 1311T>G BRCA-FR 2 230683224 230683224 single base substitution A C synonymous_variant S485S 1455T>G BRCA-FR 2 230683224 230683224 single base substitution A C upstream_gene_variant BRCA-FR 2 230691177 230691177 single base substitution G T downstream_gene_variant BRCA-FR 2 230691177 230691177 single base substitution G T intron_variant BRCA-FR 2 230695690 230695690 single base substitution C G downstream_gene_variant BRCA-FR 2 230695690 230695690 single base substitution C G intron_variant BRCA-FR 2 230709142 230709142 single base substitution G A intron_variant BRCA-FR 2 230715758 230715758 single base substitution C T intron_variant BRCA-FR 2 230722291 230722291 single base substitution G A downstream_gene_variant BRCA-FR 2 230722291 230722291 single base substitution G A intron_variant BRCA-FR 2 230725999 230725999 single base substitution G C intron_variant BRCA-FR 2 230725999 230725999 single base substitution G C upstream_gene_variant BRCA-FR 2 230737064 230737064 single base substitution G C intron_variant BRCA-FR 2 230747016 230747016 single base substitution G T intron_variant BRCA-FR 2 230753546 230753546 single base substitution G A intron_variant BRCA-FR 2 230753886 230753886 single base substitution G A intron_variant BRCA-FR 2 230753889 230753889 single base substitution G A intron_variant BRCA-FR 2 230765593 230765593 single base substitution G A intron_variant BRCA-FR 2 230766857 230766857 single base substitution G A intron_variant BRCA-FR 2 230767864 230767864 single base substitution C G intron_variant BRCA-FR 2 230782677 230782677 single base substitution C A intron_variant BRCA-FR 2 230791312 230791312 single base substitution T C upstream_gene_variant BRCA-UK 2 230629285 230629285 single base substitution G C 3_prime_UTR_variant BRCA-UK 2 230629285 230629285 single base substitution G C downstream_gene_variant BRCA-UK 2 230691763 230691763 single base substitution G C downstream_gene_variant BRCA-UK 2 230691763 230691763 single base substitution G C intron_variant BRCA-UK 2 230695384 230695384 single base substitution G A downstream_gene_variant BRCA-UK 2 230695384 230695384 single base substitution G A intron_variant BRCA-UK 2 230749973 230749973 single base substitution G C intron_variant BRCA-UK 2 230751247 230751247 single base substitution G A intron_variant BRCA-UK 2 230780975 230780975 single base substitution G C intron_variant BRCA-US 2 230638875 230638875 single base substitution C T exon_variant BRCA-US 2 230638875 230638875 single base substitution C T missense_variant E101K 301G>A BRCA-US 2 230638875 230638875 single base substitution C T missense_variant E1533K 4597G>A BRCA-US 2 230638875 230638875 single base substitution C T missense_variant E1803K 5407G>A BRCA-US 2 230638875 230638875 single base substitution C T missense_variant E1851K 5551G>A BRCA-US 2 230643194 230643194 single base substitution G A exon_variant BRCA-US 2 230643194 230643194 single base substitution G A synonymous_variant R1428R 4284C>T BRCA-US 2 230643194 230643194 single base substitution G A synonymous_variant R1698R 5094C>T BRCA-US 2 230643194 230643194 single base substitution G A synonymous_variant R1746R 5238C>T BRCA-US 2 230643194 230643194 single base substitution G A upstream_gene_variant BRCA-US 2 230652275 230652275 single base substitution G A downstream_gene_variant BRCA-US 2 230652275 230652275 single base substitution G A synonymous_variant I1302I 3906C>T BRCA-US 2 230652275 230652275 single base substitution G A synonymous_variant I1572I 4716C>T BRCA-US 2 230652275 230652275 single base substitution G A synonymous_variant I1620I 4860C>T BRCA-US 2 230654349 230654349 single base substitution C T downstream_gene_variant BRCA-US 2 230654349 230654349 single base substitution C T missense_variant R1213Q 3638G>A BRCA-US 2 230654349 230654349 single base substitution C T missense_variant R1483Q 4448G>A BRCA-US 2 230654349 230654349 single base substitution C T missense_variant R1531Q 4592G>A BRCA-US 2 230656625 230656625 single base substitution G A downstream_gene_variant BRCA-US 2 230656625 230656625 single base substitution G A exon_variant BRCA-US 2 230656625 230656625 single base substitution G A missense_variant P1113S 3337C>T BRCA-US 2 230656625 230656625 single base substitution G A missense_variant P1383S 4147C>T BRCA-US 2 230656625 230656625 single base substitution G A missense_variant P1431S 4291C>T BRCA-US 2 230661314 230661314 insertion of <=200bp - A downstream_gene_variant BRCA-US 2 230661314 230661314 insertion of <=200bp - A exon_variant BRCA-US 2 230661314 230661314 insertion of <=200bp - A frameshift_variant S1195S? BRCA-US 2 230661314 230661314 insertion of <=200bp - A frameshift_variant S1243S? BRCA-US 2 230661314 230661314 insertion of <=200bp - A frameshift_variant S925S? BRCA-US 2 230661314 230661314 insertion of <=200bp - A upstream_gene_variant BRCA-US 2 230663600 230663601 deletion of <=200bp GA - 3_prime_UTR_variant BRCA-US 2 230663600 230663601 deletion of <=200bp GA - downstream_gene_variant BRCA-US 2 230663600 230663601 deletion of <=200bp GA - frameshift_variant S1083 BRCA-US 2 230663600 230663601 deletion of <=200bp GA - frameshift_variant S1131 BRCA-US 2 230663600 230663601 deletion of <=200bp GA - frameshift_variant S813 BRCA-US 2 230663600 230663601 deletion of <=200bp GA - upstream_gene_variant BRCA-US 2 230678609 230678609 single base substitution G A exon_variant BRCA-US 2 230678609 230678609 single base substitution G A intron_variant BRCA-US 2 230678609 230678609 single base substitution G A synonymous_variant L310L 928C>T BRCA-US 2 230678609 230678609 single base substitution G A synonymous_variant L607L 1819C>T BRCA-US 2 230678609 230678609 single base substitution G A synonymous_variant L655L 1963C>T BRCA-US 2 230678717 230678717 single base substitution C T exon_variant BRCA-US 2 230678717 230678717 single base substitution C T intron_variant BRCA-US 2 230678717 230678717 single base substitution C T missense_variant E274K 820G>A BRCA-US 2 230678717 230678717 single base substitution C T missense_variant E571K 1711G>A BRCA-US 2 230678717 230678717 single base substitution C T missense_variant E619K 1855G>A BRCA-US 2 230678948 230678948 deletion of <=200bp C - intron_variant BRCA-US 2 230678948 230678948 deletion of <=200bp C - splice_donor_variant BRCA-US 2 230679862 230679862 single base substitution G A exon_variant BRCA-US 2 230679862 230679862 single base substitution G A intron_variant BRCA-US 2 230679862 230679862 single base substitution G A stop_gained R217* 649C>T BRCA-US 2 230679862 230679862 single base substitution G A stop_gained R514* 1540C>T BRCA-US 2 230679862 230679862 single base substitution G A stop_gained R562* 1684C>T BRCA-US 2 230679862 230679862 single base substitution G A upstream_gene_variant BRCA-US 2 230723707 230723707 single base substitution G T downstream_gene_variant BRCA-US 2 230723707 230723707 single base substitution G T exon_variant BRCA-US 2 230723707 230723707 single base substitution G T intron_variant BRCA-US 2 230723707 230723707 single base substitution G T missense_variant Q228K 682C>A BRCA-US 2 230723707 230723707 single base substitution G T missense_variant Q270K 808C>A BRCA-US 2 230723707 230723707 single base substitution G T missense_variant Q98K 292C>A BTCA-JP 2 230636359 230636359 single base substitution A T downstream_gene_variant BTCA-JP 2 230636359 230636359 single base substitution A T intron_variant BTCA-JP 2 230643496 230643496 single base substitution A G intron_variant BTCA-JP 2 230643496 230643496 single base substitution A G upstream_gene_variant BTCA-JP 2 230643643 230643643 single base substitution C T missense_variant A1375T 4123G>A BTCA-JP 2 230643643 230643643 single base substitution C T missense_variant A1645T 4933G>A BTCA-JP 2 230643643 230643643 single base substitution C T missense_variant A1693T 5077G>A BTCA-JP 2 230643643 230643643 single base substitution C T upstream_gene_variant BTCA-JP 2 230643657 230643657 single base substitution T C missense_variant Q1370R 4109A>G BTCA-JP 2 230643657 230643657 single base substitution T C missense_variant Q1640R 4919A>G BTCA-JP 2 230643657 230643657 single base substitution T C missense_variant Q1688R 5063A>G BTCA-JP 2 230643657 230643657 single base substitution T C upstream_gene_variant BTCA-JP 2 230643753 230643753 deletion of <=200bp T - intron_variant BTCA-JP 2 230643753 230643753 deletion of <=200bp T - upstream_gene_variant BTCA-JP 2 230656551 230656551 insertion of <=200bp - A downstream_gene_variant BTCA-JP 2 230656551 230656551 insertion of <=200bp - A exon_variant BTCA-JP 2 230656551 230656551 insertion of <=200bp - A intron_variant BTCA-JP 2 230657680 230657680 single base substitution G A downstream_gene_variant BTCA-JP 2 230657680 230657680 single base substitution G A intron_variant BTCA-JP 2 230661434 230661434 single base substitution G C 3_prime_UTR_variant BTCA-JP 2 230661434 230661434 single base substitution G C exon_variant BTCA-JP 2 230661434 230661434 single base substitution G C stop_gained S1155* 3464C>G BTCA-JP 2 230661434 230661434 single base substitution G C stop_gained S1203* 3608C>G BTCA-JP 2 230661434 230661434 single base substitution G C stop_gained S885* 2654C>G BTCA-JP 2 230661434 230661434 single base substitution G C upstream_gene_variant BTCA-JP 2 230662333 230662333 single base substitution A G downstream_gene_variant BTCA-JP 2 230662333 230662333 single base substitution A G intron_variant BTCA-JP 2 230662333 230662333 single base substitution A G upstream_gene_variant BTCA-JP 2 230664144 230664144 single base substitution T G downstream_gene_variant BTCA-JP 2 230664144 230664144 single base substitution T G intron_variant BTCA-JP 2 230664144 230664144 single base substitution T G upstream_gene_variant BTCA-JP 2 230667105 230667105 single base substitution C A downstream_gene_variant BTCA-JP 2 230667105 230667105 single base substitution C A exon_variant BTCA-JP 2 230667105 230667105 single base substitution C A intron_variant BTCA-JP 2 230667105 230667105 single base substitution C A synonymous_variant T678T 2034G>T BTCA-JP 2 230667105 230667105 single base substitution C A synonymous_variant T948T 2844G>T BTCA-JP 2 230667105 230667105 single base substitution C A synonymous_variant T996T 2988G>T BTCA-JP 2 230679966 230679966 deletion of <=200bp A - intron_variant BTCA-JP 2 230679966 230679966 deletion of <=200bp A - upstream_gene_variant BTCA-JP 2 230725143 230725143 single base substitution G C intron_variant BTCA-JP 2 230725143 230725143 single base substitution G C stop_gained S68* 203C>G BTCA-JP 2 230725143 230725143 single base substitution G C upstream_gene_variant BTCA-JP 2 230787355 230787355 single base substitution C T intron_variant BTCA-JP 2 230787355 230787355 single base substitution C T upstream_gene_variant CESC-US 2 230633395 230633395 single base substitution C G downstream_gene_variant CESC-US 2 230633395 230633395 single base substitution C G missense_variant D1637H 4909G>C CESC-US 2 230633395 230633395 single base substitution C G missense_variant D167H 499G>C CESC-US 2 230633395 230633395 single base substitution C G missense_variant D1907H 5719G>C CESC-US 2 230633395 230633395 single base substitution C G missense_variant D1955H 5863G>C CESC-US 2 230636303 230636303 single base substitution C G downstream_gene_variant CESC-US 2 230636303 230636303 single base substitution C G intron_variant CESC-US 2 230636303 230636303 single base substitution C G missense_variant D1569H 4705G>C CESC-US 2 230636303 230636303 single base substitution C G missense_variant D1839H 5515G>C CESC-US 2 230636303 230636303 single base substitution C G missense_variant D1887H 5659G>C CESC-US 2 230650475 230650475 single base substitution C A stop_gained E1353* 4057G>T CESC-US 2 230650475 230650475 single base substitution C A stop_gained E1623* 4867G>T CESC-US 2 230650475 230650475 single base substitution C A stop_gained E1671* 5011G>T CESC-US 2 230660005 230660005 insertion of <=200bp - C downstream_gene_variant CESC-US 2 230660005 230660005 insertion of <=200bp - C exon_variant CESC-US 2 230660005 230660005 insertion of <=200bp - C frameshift_variant G1211G? CESC-US 2 230660005 230660005 insertion of <=200bp - C frameshift_variant G1259G? CESC-US 2 230660005 230660005 insertion of <=200bp - C frameshift_variant G941G? CESC-US 2 230660005 230660005 insertion of <=200bp - C upstream_gene_variant CESC-US 2 230667174 230667174 single base substitution A G downstream_gene_variant CESC-US 2 230667174 230667174 single base substitution A G intron_variant CESC-US 2 230667174 230667174 single base substitution A G splice_region_variant CESC-US 2 230670551 230670551 single base substitution G A downstream_gene_variant CESC-US 2 230670551 230670551 single base substitution G A exon_variant CESC-US 2 230670551 230670551 single base substitution G A intron_variant CESC-US 2 230670551 230670551 single base substitution G A stop_gained R504* 1510C>T CESC-US 2 230672494 230672494 single base substitution G A downstream_gene_variant CESC-US 2 230672494 230672494 single base substitution G A exon_variant CESC-US 2 230672494 230672494 single base substitution G A intron_variant CESC-US 2 230672494 230672494 single base substitution G A missense_variant A464V 1391C>T CESC-US 2 230672494 230672494 single base substitution G A missense_variant A761V 2282C>T CESC-US 2 230672494 230672494 single base substitution G A missense_variant A809V 2426C>T CESC-US 2 230672494 230672494 single base substitution G A upstream_gene_variant CESC-US 2 230678652 230678652 single base substitution G T exon_variant CESC-US 2 230678652 230678652 single base substitution G T intron_variant CESC-US 2 230678652 230678652 single base substitution G T synonymous_variant I295I 885C>A CESC-US 2 230678652 230678652 single base substitution G T synonymous_variant I592I 1776C>A CESC-US 2 230678652 230678652 single base substitution G T synonymous_variant I640I 1920C>A CESC-US 2 230723835 230723835 single base substitution G C downstream_gene_variant CESC-US 2 230723835 230723835 single base substitution G C exon_variant CESC-US 2 230723835 230723835 single base substitution G C intron_variant CESC-US 2 230723835 230723835 single base substitution G C stop_gained S185* 554C>G CESC-US 2 230723835 230723835 single base substitution G C stop_gained S227* 680C>G CESC-US 2 230723835 230723835 single base substitution G C stop_gained S55* 164C>G CLLE-ES 2 230624896 230624897 deletion of <=200bp TA - downstream_gene_variant CLLE-ES 2 230643587 230643587 single base substitution A G splice_region_variant CLLE-ES 2 230643587 230643587 single base substitution A G upstream_gene_variant CLLE-ES 2 230657317 230657317 single base substitution C T downstream_gene_variant CLLE-ES 2 230657317 230657317 single base substitution C T intron_variant CLLE-ES 2 230672105 230672105 single base substitution T G downstream_gene_variant CLLE-ES 2 230672105 230672105 single base substitution T G exon_variant CLLE-ES 2 230672105 230672105 single base substitution T G intron_variant CLLE-ES 2 230672105 230672105 single base substitution T G upstream_gene_variant CLLE-ES 2 230697421 230697421 single base substitution C T downstream_gene_variant CLLE-ES 2 230697421 230697421 single base substitution C T intron_variant CLLE-ES 2 230708792 230708792 single base substitution G C intron_variant CLLE-ES 2 230721232 230721232 single base substitution A T downstream_gene_variant CLLE-ES 2 230721232 230721232 single base substitution A T intron_variant CLLE-ES 2 230742203 230742203 single base substitution C A intron_variant CLLE-ES 2 230746778 230746778 single base substitution A C intron_variant CLLE-ES 2 230764762 230764762 single base substitution T A intron_variant CLLE-ES 2 230768549 230768549 single base substitution T C intron_variant CLLE-ES 2 230788478 230788478 single base substitution T A upstream_gene_variant COAD-US 2 230636319 230636319 single base substitution G A downstream_gene_variant COAD-US 2 230636319 230636319 single base substitution G A intron_variant COAD-US 2 230636319 230636319 single base substitution G A synonymous_variant G1563G 4689C>T COAD-US 2 230636319 230636319 single base substitution G A synonymous_variant G1833G 5499C>T COAD-US 2 230636319 230636319 single base substitution G A synonymous_variant G1881G 5643C>T COAD-US 2 230642130 230642130 single base substitution T C exon_variant COAD-US 2 230642130 230642130 single base substitution T C synonymous_variant S1465S 4395A>G COAD-US 2 230642130 230642130 single base substitution T C synonymous_variant S1735S 5205A>G COAD-US 2 230642130 230642130 single base substitution T C synonymous_variant S1783S 5349A>G COAD-US 2 230642130 230642130 single base substitution T C synonymous_variant S33S 99A>G COAD-US 2 230643668 230643668 single base substitution C T synonymous_variant A1366A 4098G>A COAD-US 2 230643668 230643668 single base substitution C T synonymous_variant A1636A 4908G>A COAD-US 2 230643668 230643668 single base substitution C T synonymous_variant A1684A 5052G>A COAD-US 2 230643668 230643668 single base substitution C T upstream_gene_variant COAD-US 2 230661315 230661315 deletion of <=200bp A - downstream_gene_variant COAD-US 2 230661315 230661315 deletion of <=200bp A - exon_variant COAD-US 2 230661315 230661315 deletion of <=200bp A - frameshift_variant S1195 COAD-US 2 230661315 230661315 deletion of <=200bp A - frameshift_variant S1243 COAD-US 2 230661315 230661315 deletion of <=200bp A - frameshift_variant S925 COAD-US 2 230661315 230661315 deletion of <=200bp A - upstream_gene_variant COAD-US 2 230667084 230667084 single base substitution T C downstream_gene_variant COAD-US 2 230667084 230667084 single base substitution T C exon_variant COAD-US 2 230667084 230667084 single base substitution T C intron_variant COAD-US 2 230667084 230667084 single base substitution T C synonymous_variant G1003G 3009A>G COAD-US 2 230667084 230667084 single base substitution T C synonymous_variant G685G 2055A>G COAD-US 2 230667084 230667084 single base substitution T C synonymous_variant G955G 2865A>G COAD-US 2 230668729 230668729 insertion of <=200bp - T downstream_gene_variant COAD-US 2 230668729 230668729 insertion of <=200bp - T exon_variant COAD-US 2 230668729 230668729 insertion of <=200bp - T frameshift_variant N610N? COAD-US 2 230668729 230668729 insertion of <=200bp - T frameshift_variant N880N? COAD-US 2 230668729 230668729 insertion of <=200bp - T frameshift_variant N928N? COAD-US 2 230668729 230668729 insertion of <=200bp - T intron_variant COAD-US 2 230668868 230668868 single base substitution A C downstream_gene_variant COAD-US 2 230668868 230668868 single base substitution A C exon_variant COAD-US 2 230668868 230668868 single base substitution A C intron_variant COAD-US 2 230668868 230668868 single base substitution A C missense_variant F564C 1691T>G COAD-US 2 230668868 230668868 single base substitution A C missense_variant F834C 2501T>G COAD-US 2 230668868 230668868 single base substitution A C missense_variant F882C 2645T>G COAD-US 2 230670463 230670463 single base substitution A G downstream_gene_variant COAD-US 2 230670463 230670463 single base substitution A G exon_variant COAD-US 2 230670463 230670463 single base substitution A G intron_variant COAD-US 2 230670463 230670463 single base substitution A G missense_variant L533S 1598T>C COAD-US 2 230670463 230670463 single base substitution A G missense_variant L803S 2408T>C COAD-US 2 230670463 230670463 single base substitution A G missense_variant L851S 2552T>C COAD-US 2 230670490 230670490 single base substitution C T downstream_gene_variant COAD-US 2 230670490 230670490 single base substitution C T exon_variant COAD-US 2 230670490 230670490 single base substitution C T intron_variant COAD-US 2 230670490 230670490 single base substitution C T missense_variant R524H 1571G>A COAD-US 2 230670490 230670490 single base substitution C T missense_variant R794H 2381G>A COAD-US 2 230670490 230670490 single base substitution C T missense_variant R842H 2525G>A COAD-US 2 230675724 230675724 single base substitution G A exon_variant COAD-US 2 230675724 230675724 single base substitution G A intron_variant COAD-US 2 230675724 230675724 single base substitution G A missense_variant T353I 1058C>T COAD-US 2 230675724 230675724 single base substitution G A missense_variant T650I 1949C>T COAD-US 2 230675724 230675724 single base substitution G A missense_variant T698I 2093C>T COAD-US 2 230675724 230675724 single base substitution G A upstream_gene_variant COAD-US 2 230675921 230675921 single base substitution C A intron_variant COAD-US 2 230675921 230675921 single base substitution C A splice_acceptor_variant COAD-US 2 230679016 230679016 single base substitution A G exon_variant COAD-US 2 230679016 230679016 single base substitution A G intron_variant COAD-US 2 230679016 230679016 single base substitution A G missense_variant V241A 722T>C COAD-US 2 230679016 230679016 single base substitution A G missense_variant V538A 1613T>C COAD-US 2 230679016 230679016 single base substitution A G missense_variant V586A 1757T>C COAD-US 2 230705619 230705619 single base substitution C T exon_variant COAD-US 2 230705619 230705619 single base substitution C T intron_variant COAD-US 2 230705619 230705619 single base substitution C T missense_variant R150H 449G>A COAD-US 2 230705619 230705619 single base substitution C T missense_variant R309H 926G>A COAD-US 2 230705619 230705619 single base substitution C T missense_variant R351H 1052G>A COAD-US 2 230723678 230723678 single base substitution C T downstream_gene_variant COAD-US 2 230723678 230723678 single base substitution C T exon_variant COAD-US 2 230723678 230723678 single base substitution C T intron_variant COAD-US 2 230723678 230723678 single base substitution C T synonymous_variant A107A 321G>A COAD-US 2 230723678 230723678 single base substitution C T synonymous_variant A237A 711G>A COAD-US 2 230723678 230723678 single base substitution C T synonymous_variant A279A 837G>A COAD-US 2 230723870 230723870 single base substitution C T downstream_gene_variant COAD-US 2 230723870 230723870 single base substitution C T exon_variant COAD-US 2 230723870 230723870 single base substitution C T intron_variant COAD-US 2 230723870 230723870 single base substitution C T synonymous_variant A173A 519G>A COAD-US 2 230723870 230723870 single base substitution C T synonymous_variant A215A 645G>A COAD-US 2 230723870 230723870 single base substitution C T synonymous_variant A43A 129G>A COAD-US 2 230723946 230723946 single base substitution T C downstream_gene_variant COAD-US 2 230723946 230723946 single base substitution T C exon_variant COAD-US 2 230723946 230723946 single base substitution T C intron_variant COAD-US 2 230723946 230723946 single base substitution T C missense_variant K148R 443A>G COAD-US 2 230723946 230723946 single base substitution T C missense_variant K18R 53A>G COAD-US 2 230723946 230723946 single base substitution T C missense_variant K190R 569A>G COCA-CN 2 230632213 230632213 single base substitution G T 3_prime_UTR_variant COCA-CN 2 230632213 230632213 single base substitution G T downstream_gene_variant COCA-CN 2 230632474 230632474 single base substitution A C downstream_gene_variant COCA-CN 2 230632474 230632474 single base substitution A C intron_variant COCA-CN 2 230633384 230633384 single base substitution C T downstream_gene_variant COCA-CN 2 230633384 230633384 single base substitution C T synonymous_variant Q1640Q 4920G>A COCA-CN 2 230633384 230633384 single base substitution C T synonymous_variant Q170Q 510G>A COCA-CN 2 230633384 230633384 single base substitution C T synonymous_variant Q1910Q 5730G>A COCA-CN 2 230633384 230633384 single base substitution C T synonymous_variant Q1958Q 5874G>A COCA-CN 2 230638756 230638756 single base substitution C T exon_variant COCA-CN 2 230638756 230638756 single base substitution C T intron_variant COCA-CN 2 230638947 230638947 single base substitution T C exon_variant COCA-CN 2 230638947 230638947 single base substitution T C missense_variant T1509A 4525A>G COCA-CN 2 230638947 230638947 single base substitution T C missense_variant T1779A 5335A>G COCA-CN 2 230638947 230638947 single base substitution T C missense_variant T1827A 5479A>G COCA-CN 2 230638947 230638947 single base substitution T C missense_variant T77A 229A>G COCA-CN 2 230650579 230650579 single base substitution G T splice_region_variant COCA-CN 2 230653666 230653666 single base substitution G T downstream_gene_variant COCA-CN 2 230653666 230653666 single base substitution G T intron_variant COCA-CN 2 230655744 230655744 single base substitution A C downstream_gene_variant COCA-CN 2 230655744 230655744 single base substitution A C intron_variant COCA-CN 2 230663742 230663742 single base substitution A G 3_prime_UTR_variant COCA-CN 2 230663742 230663742 single base substitution A G downstream_gene_variant COCA-CN 2 230663742 230663742 single base substitution A G missense_variant S1036P 3106T>C COCA-CN 2 230663742 230663742 single base substitution A G missense_variant S1084P 3250T>C COCA-CN 2 230663742 230663742 single base substitution A G missense_variant S766P 2296T>C COCA-CN 2 230663742 230663742 single base substitution A G upstream_gene_variant COCA-CN 2 230668423 230668423 single base substitution T G downstream_gene_variant COCA-CN 2 230668423 230668423 single base substitution T G intron_variant COCA-CN 2 230668871 230668871 single base substitution G T downstream_gene_variant COCA-CN 2 230668871 230668871 single base substitution G T exon_variant COCA-CN 2 230668871 230668871 single base substitution G T intron_variant COCA-CN 2 230668871 230668871 single base substitution G T missense_variant S563Y 1688C>A COCA-CN 2 230668871 230668871 single base substitution G T missense_variant S833Y 2498C>A COCA-CN 2 230668871 230668871 single base substitution G T missense_variant S881Y 2642C>A COCA-CN 2 230668961 230668961 single base substitution A T downstream_gene_variant COCA-CN 2 230668961 230668961 single base substitution A T intron_variant COCA-CN 2 230668982 230668982 single base substitution T G downstream_gene_variant COCA-CN 2 230668982 230668982 single base substitution T G intron_variant COCA-CN 2 230670551 230670551 single base substitution G A downstream_gene_variant COCA-CN 2 230670551 230670551 single base substitution G A exon_variant COCA-CN 2 230670551 230670551 single base substitution G A intron_variant COCA-CN 2 230670551 230670551 single base substitution G A stop_gained R504* 1510C>T COCA-CN 2 230670701 230670701 single base substitution T G downstream_gene_variant COCA-CN 2 230670701 230670701 single base substitution T G exon_variant COCA-CN 2 230670701 230670701 single base substitution T G intron_variant COCA-CN 2 230672632 230672632 single base substitution C T downstream_gene_variant COCA-CN 2 230672632 230672632 single base substitution C T intron_variant COCA-CN 2 230672632 230672632 single base substitution C T upstream_gene_variant COCA-CN 2 230672877 230672877 single base substitution T G downstream_gene_variant COCA-CN 2 230672877 230672877 single base substitution T G intron_variant COCA-CN 2 230672877 230672877 single base substitution T G upstream_gene_variant COCA-CN 2 230679052 230679052 single base substitution A G exon_variant COCA-CN 2 230679052 230679052 single base substitution A G intron_variant COCA-CN 2 230705485 230705485 single base substitution A C intron_variant COCA-CN 2 230723757 230723757 single base substitution G A downstream_gene_variant COCA-CN 2 230723757 230723757 single base substitution G A exon_variant COCA-CN 2 230723757 230723757 single base substitution G A intron_variant COCA-CN 2 230723757 230723757 single base substitution G A missense_variant S211L 632C>T COCA-CN 2 230723757 230723757 single base substitution G A missense_variant S253L 758C>T COCA-CN 2 230723757 230723757 single base substitution G A missense_variant S81L 242C>T COCA-CN 2 230724053 230724053 single base substitution C A downstream_gene_variant COCA-CN 2 230724053 230724053 single base substitution C A exon_variant COCA-CN 2 230724053 230724053 single base substitution C A intron_variant COCA-CN 2 230724053 230724053 single base substitution C A missense_variant K112N 336G>T COCA-CN 2 230724053 230724053 single base substitution C A missense_variant K154N 462G>T COCA-CN 2 230724053 230724053 single base substitution C A upstream_gene_variant COCA-CN 2 230724268 230724268 single base substitution C T exon_variant COCA-CN 2 230724268 230724268 single base substitution C T intron_variant COCA-CN 2 230724268 230724268 single base substitution C T missense_variant V41M 121G>A COCA-CN 2 230724268 230724268 single base substitution C T missense_variant V83M 247G>A COCA-CN 2 230724268 230724268 single base substitution C T upstream_gene_variant COCA-CN 2 230727814 230727814 single base substitution G A intron_variant COCA-CN 2 230727814 230727814 single base substitution G A upstream_gene_variant COCA-CN 2 230744791 230744791 single base substitution G C exon_variant COCA-CN 2 230744791 230744791 single base substitution G C missense_variant S2C 5C>G EOPC-DE 2 230654615 230654615 single base substitution A G downstream_gene_variant EOPC-DE 2 230654615 230654615 single base substitution A G intron_variant EOPC-DE 2 230669206 230669206 single base substitution G A downstream_gene_variant EOPC-DE 2 230669206 230669206 single base substitution G A intron_variant EOPC-DE 2 230676959 230676959 single base substitution G A intron_variant EOPC-DE 2 230693950 230693950 single base substitution C T downstream_gene_variant EOPC-DE 2 230693950 230693950 single base substitution C T exon_variant EOPC-DE 2 230693950 230693950 single base substitution C T intron_variant EOPC-DE 2 230693950 230693950 single base substitution C T missense_variant R125Q 374G>A EOPC-DE 2 230693950 230693950 single base substitution C T missense_variant R422Q 1265G>A EOPC-DE 2 230693950 230693950 single base substitution C T missense_variant R470Q 1409G>A EOPC-DE 2 230698693 230698693 single base substitution C T downstream_gene_variant EOPC-DE 2 230698693 230698693 single base substitution C T intron_variant EOPC-DE 2 230700669 230700669 single base substitution A G downstream_gene_variant EOPC-DE 2 230700669 230700669 single base substitution A G intron_variant EOPC-DE 2 230769615 230769615 single base substitution T C intron_variant ESAD-UK 2 230625977 230625977 single base substitution C T downstream_gene_variant ESAD-UK 2 230628076 230628076 single base substitution G C downstream_gene_variant ESAD-UK 2 230629388 230629388 single base substitution C G 3_prime_UTR_variant ESAD-UK 2 230629388 230629388 single base substitution C G downstream_gene_variant ESAD-UK 2 230631326 230631326 single base substitution A T 3_prime_UTR_variant ESAD-UK 2 230631326 230631326 single base substitution A T downstream_gene_variant ESAD-UK 2 230631654 230631654 single base substitution G A 3_prime_UTR_variant ESAD-UK 2 230631654 230631654 single base substitution G A downstream_gene_variant ESAD-UK 2 230632047 230632047 single base substitution T G 3_prime_UTR_variant ESAD-UK 2 230632047 230632047 single base substitution T G downstream_gene_variant ESAD-UK 2 230632483 230632483 single base substitution G C downstream_gene_variant ESAD-UK 2 230632483 230632483 single base substitution G C intron_variant ESAD-UK 2 230632486 230632486 single base substitution A T downstream_gene_variant ESAD-UK 2 230632486 230632486 single base substitution A T intron_variant ESAD-UK 2 230634777 230634777 single base substitution C T downstream_gene_variant ESAD-UK 2 230634777 230634777 single base substitution C T intron_variant ESAD-UK 2 230635711 230635711 single base substitution C T downstream_gene_variant ESAD-UK 2 230635711 230635711 single base substitution C T intron_variant ESAD-UK 2 230635852 230635852 single base substitution C T downstream_gene_variant ESAD-UK 2 230635852 230635852 single base substitution C T intron_variant ESAD-UK 2 230636006 230636006 single base substitution C A downstream_gene_variant ESAD-UK 2 230636006 230636006 single base substitution C A intron_variant ESAD-UK 2 230636235 230636235 single base substitution T G downstream_gene_variant ESAD-UK 2 230636235 230636235 single base substitution T G intron_variant ESAD-UK 2 230636235 230636235 single base substitution T G missense_variant E1591D 4773A>C ESAD-UK 2 230636235 230636235 single base substitution T G missense_variant E1861D 5583A>C ESAD-UK 2 230636235 230636235 single base substitution T G missense_variant E1909D 5727A>C ESAD-UK 2 230636841 230636841 single base substitution T A downstream_gene_variant ESAD-UK 2 230636841 230636841 single base substitution T A intron_variant ESAD-UK 2 230637379 230637379 single base substitution G A downstream_gene_variant ESAD-UK 2 230637379 230637379 single base substitution G A intron_variant ESAD-UK 2 230637397 230637397 single base substitution C T downstream_gene_variant ESAD-UK 2 230637397 230637397 single base substitution C T intron_variant ESAD-UK 2 230638336 230638336 single base substitution A T exon_variant ESAD-UK 2 230638336 230638336 single base substitution A T intron_variant ESAD-UK 2 230638475 230638475 single base substitution G A exon_variant ESAD-UK 2 230638475 230638475 single base substitution G A intron_variant ESAD-UK 2 230645013 230645013 single base substitution C T intron_variant ESAD-UK 2 230645013 230645013 single base substitution C T upstream_gene_variant ESAD-UK 2 230648148 230648148 single base substitution G A intron_variant ESAD-UK 2 230648148 230648148 single base substitution G A upstream_gene_variant ESAD-UK 2 230649089 230649089 insertion of <=200bp - AT intron_variant ESAD-UK 2 230653442 230653442 single base substitution T G downstream_gene_variant ESAD-UK 2 230653442 230653442 single base substitution T G intron_variant ESAD-UK 2 230659928 230659928 single base substitution T C downstream_gene_variant ESAD-UK 2 230659928 230659928 single base substitution T C exon_variant ESAD-UK 2 230659928 230659928 single base substitution T C missense_variant H1237R 3710A>G ESAD-UK 2 230659928 230659928 single base substitution T C missense_variant H1285R 3854A>G ESAD-UK 2 230659928 230659928 single base substitution T C missense_variant H967R 2900A>G ESAD-UK 2 230659928 230659928 single base substitution T C upstream_gene_variant ESAD-UK 2 230660486 230660486 single base substitution T A downstream_gene_variant ESAD-UK 2 230660486 230660486 single base substitution T A intron_variant ESAD-UK 2 230660486 230660486 single base substitution T A upstream_gene_variant ESAD-UK 2 230664124 230664124 single base substitution A G downstream_gene_variant ESAD-UK 2 230664124 230664124 single base substitution A G intron_variant ESAD-UK 2 230664124 230664124 single base substitution A G upstream_gene_variant ESAD-UK 2 230667217 230667217 single base substitution G T downstream_gene_variant ESAD-UK 2 230667217 230667217 single base substitution G T intron_variant ESAD-UK 2 230667552 230667552 single base substitution G T downstream_gene_variant ESAD-UK 2 230667552 230667552 single base substitution G T intron_variant ESAD-UK 2 230667954 230667954 single base substitution G A downstream_gene_variant ESAD-UK 2 230667954 230667954 single base substitution G A intron_variant ESAD-UK 2 230669255 230669255 single base substitution C T downstream_gene_variant ESAD-UK 2 230669255 230669255 single base substitution C T intron_variant ESAD-UK 2 230671395 230671395 single base substitution G C downstream_gene_variant ESAD-UK 2 230671395 230671395 single base substitution G C intron_variant ESAD-UK 2 230671395 230671395 single base substitution G C upstream_gene_variant ESAD-UK 2 230671504 230671504 single base substitution T C downstream_gene_variant ESAD-UK 2 230671504 230671504 single base substitution T C intron_variant ESAD-UK 2 230671504 230671504 single base substitution T C upstream_gene_variant ESAD-UK 2 230672143 230672143 single base substitution C G downstream_gene_variant ESAD-UK 2 230672143 230672143 single base substitution C G exon_variant ESAD-UK 2 230672143 230672143 single base substitution C G intron_variant ESAD-UK 2 230672143 230672143 single base substitution C G upstream_gene_variant ESAD-UK 2 230673022 230673022 single base substitution A T downstream_gene_variant ESAD-UK 2 230673022 230673022 single base substitution A T exon_variant ESAD-UK 2 230673022 230673022 single base substitution A T intron_variant ESAD-UK 2 230673022 230673022 single base substitution A T missense_variant I417N 1250T>A ESAD-UK 2 230673022 230673022 single base substitution A T missense_variant I714N 2141T>A ESAD-UK 2 230673022 230673022 single base substitution A T missense_variant I762N 2285T>A ESAD-UK 2 230673022 230673022 single base substitution A T upstream_gene_variant ESAD-UK 2 230673252 230673252 deletion of <=200bp A - downstream_gene_variant ESAD-UK 2 230673252 230673252 deletion of <=200bp A - intron_variant ESAD-UK 2 230673252 230673252 deletion of <=200bp A - upstream_gene_variant ESAD-UK 2 230673347 230673347 single base substitution C T downstream_gene_variant ESAD-UK 2 230673347 230673347 single base substitution C T intron_variant ESAD-UK 2 230673347 230673347 single base substitution C T upstream_gene_variant ESAD-UK 2 230677547 230677547 single base substitution A T intron_variant ESAD-UK 2 230678792 230678792 single base substitution G A intron_variant ESAD-UK 2 230679334 230679334 single base substitution A T intron_variant ESAD-UK 2 230679334 230679334 single base substitution A T upstream_gene_variant ESAD-UK 2 230680059 230680059 single base substitution T A intron_variant ESAD-UK 2 230680059 230680059 single base substitution T A upstream_gene_variant ESAD-UK 2 230681459 230681459 insertion of <=200bp - G intron_variant ESAD-UK 2 230681459 230681459 insertion of <=200bp - G upstream_gene_variant ESAD-UK 2 230681873 230681873 single base substitution A G intron_variant ESAD-UK 2 230681873 230681873 single base substitution A G upstream_gene_variant ESAD-UK 2 230682953 230682953 single base substitution A T intron_variant ESAD-UK 2 230682953 230682953 single base substitution A T upstream_gene_variant ESAD-UK 2 230683165 230683165 single base substitution G A exon_variant ESAD-UK 2 230683165 230683165 single base substitution G A intron_variant ESAD-UK 2 230683165 230683165 single base substitution G A missense_variant A160V 479C>T ESAD-UK 2 230683165 230683165 single base substitution G A missense_variant A457V 1370C>T ESAD-UK 2 230683165 230683165 single base substitution G A missense_variant A505V 1514C>T ESAD-UK 2 230683165 230683165 single base substitution G A upstream_gene_variant ESAD-UK 2 230683215 230683215 insertion of <=200bp - CT exon_variant ESAD-UK 2 230683215 230683215 insertion of <=200bp - CT frameshift_variant Q143Q? ESAD-UK 2 230683215 230683215 insertion of <=200bp - CT frameshift_variant Q440Q? ESAD-UK 2 230683215 230683215 insertion of <=200bp - CT frameshift_variant Q488Q? ESAD-UK 2 230683215 230683215 insertion of <=200bp - CT intron_variant ESAD-UK 2 230683215 230683215 insertion of <=200bp - CT upstream_gene_variant ESAD-UK 2 230685048 230685048 single base substitution G A intron_variant ESAD-UK 2 230685601 230685601 single base substitution T G intron_variant ESAD-UK 2 230687079 230687079 single base substitution C T intron_variant ESAD-UK 2 230687243 230687243 single base substitution C T intron_variant ESAD-UK 2 230688031 230688031 insertion of <=200bp - T intron_variant ESAD-UK 2 230692141 230692141 single base substitution T G downstream_gene_variant ESAD-UK 2 230692141 230692141 single base substitution T G intron_variant ESAD-UK 2 230694529 230694529 single base substitution G T downstream_gene_variant ESAD-UK 2 230694529 230694529 single base substitution G T intron_variant ESAD-UK 2 230695010 230695010 single base substitution T C downstream_gene_variant ESAD-UK 2 230695010 230695010 single base substitution T C intron_variant ESAD-UK 2 230696463 230696463 deletion of <=200bp A - intron_variant ESAD-UK 2 230696952 230696952 single base substitution A G downstream_gene_variant ESAD-UK 2 230696952 230696952 single base substitution A G intron_variant ESAD-UK 2 230698385 230698385 single base substitution C G downstream_gene_variant ESAD-UK 2 230698385 230698385 single base substitution C G intron_variant ESAD-UK 2 230699367 230699367 single base substitution T G downstream_gene_variant ESAD-UK 2 230699367 230699367 single base substitution T G intron_variant ESAD-UK 2 230701365 230701365 single base substitution G C downstream_gene_variant ESAD-UK 2 230701365 230701365 single base substitution G C intron_variant ESAD-UK 2 230702587 230702587 single base substitution C T intron_variant ESAD-UK 2 230705115 230705115 single base substitution T A intron_variant ESAD-UK 2 230705954 230705954 deletion of <=200bp T - intron_variant ESAD-UK 2 230707189 230707189 single base substitution A G intron_variant ESAD-UK 2 230707332 230707332 deletion of <=200bp A - intron_variant ESAD-UK 2 230707603 230707603 single base substitution A G intron_variant ESAD-UK 2 230710751 230710751 deletion of <=200bp G - intron_variant ESAD-UK 2 230711388 230711388 insertion of <=200bp - T intron_variant ESAD-UK 2 230712456 230712456 single base substitution G C intron_variant ESAD-UK 2 230715348 230715348 single base substitution T C intron_variant ESAD-UK 2 230715751 230715751 single base substitution C T intron_variant ESAD-UK 2 230715786 230715786 single base substitution A G intron_variant ESAD-UK 2 230717446 230717446 single base substitution T C intron_variant ESAD-UK 2 230719351 230719351 single base substitution A T downstream_gene_variant ESAD-UK 2 230719351 230719351 single base substitution A T intron_variant ESAD-UK 2 230719876 230719876 single base substitution G A downstream_gene_variant ESAD-UK 2 230719876 230719876 single base substitution G A intron_variant ESAD-UK 2 230720792 230720792 deletion of <=200bp T - downstream_gene_variant ESAD-UK 2 230720792 230720792 deletion of <=200bp T - intron_variant ESAD-UK 2 230722980 230722980 single base substitution A T downstream_gene_variant ESAD-UK 2 230722980 230722980 single base substitution A T intron_variant ESAD-UK 2 230723460 230723460 single base substitution A G downstream_gene_variant ESAD-UK 2 230723460 230723460 single base substitution A G intron_variant ESAD-UK 2 230724486 230724486 single base substitution A G intron_variant ESAD-UK 2 230724486 230724486 single base substitution A G upstream_gene_variant ESAD-UK 2 230726102 230726102 single base substitution C G intron_variant ESAD-UK 2 230726102 230726102 single base substitution C G upstream_gene_variant ESAD-UK 2 230728129 230728129 single base substitution C G intron_variant ESAD-UK 2 230728129 230728129 single base substitution C G upstream_gene_variant ESAD-UK 2 230730902 230730902 single base substitution C T intron_variant ESAD-UK 2 230731821 230731821 single base substitution T G intron_variant ESAD-UK 2 230731827 230731827 single base substitution T G intron_variant ESAD-UK 2 230732619 230732619 single base substitution C A intron_variant ESAD-UK 2 230735938 230735938 single base substitution A T intron_variant ESAD-UK 2 230736336 230736336 single base substitution G A intron_variant ESAD-UK 2 230741601 230741601 single base substitution T C intron_variant ESAD-UK 2 230746283 230746283 single base substitution G C intron_variant ESAD-UK 2 230746384 230746384 single base substitution A C intron_variant ESAD-UK 2 230748076 230748076 single base substitution T G intron_variant ESAD-UK 2 230749311 230749311 deletion of <=200bp A - intron_variant ESAD-UK 2 230752095 230752095 single base substitution A T intron_variant ESAD-UK 2 230752520 230752520 single base substitution G C intron_variant ESAD-UK 2 230753451 230753451 single base substitution G A intron_variant ESAD-UK 2 230755443 230755443 single base substitution T G intron_variant ESAD-UK 2 230756124 230756124 single base substitution G A intron_variant ESAD-UK 2 230757345 230757345 single base substitution G A intron_variant ESAD-UK 2 230758646 230758646 single base substitution C T intron_variant ESAD-UK 2 230760000 230760000 single base substitution G T intron_variant ESAD-UK 2 230760192 230760192 single base substitution A G intron_variant ESAD-UK 2 230767821 230767821 single base substitution A G intron_variant ESAD-UK 2 230771506 230771506 single base substitution T C intron_variant ESAD-UK 2 230771588 230771588 single base substitution T C intron_variant ESAD-UK 2 230772033 230772033 single base substitution T C intron_variant ESAD-UK 2 230772424 230772424 single base substitution C T intron_variant ESAD-UK 2 230774106 230774106 single base substitution A C intron_variant ESAD-UK 2 230776632 230776632 single base substitution A C intron_variant ESAD-UK 2 230776915 230776915 single base substitution A T intron_variant ESAD-UK 2 230777363 230777363 single base substitution T C intron_variant ESAD-UK 2 230777794 230777794 single base substitution G A intron_variant ESAD-UK 2 230777922 230777922 single base substitution C T intron_variant ESAD-UK 2 230779021 230779021 single base substitution G C intron_variant ESAD-UK 2 230780147 230780147 single base substitution C T intron_variant ESAD-UK 2 230780175 230780175 single base substitution A T intron_variant ESAD-UK 2 230780238 230780238 single base substitution A T intron_variant ESAD-UK 2 230780373 230780373 single base substitution G A intron_variant ESAD-UK 2 230780782 230780782 single base substitution G A intron_variant ESAD-UK 2 230785223 230785223 single base substitution C T intron_variant ESAD-UK 2 230786811 230786811 single base substitution C G intron_variant ESAD-UK 2 230786811 230786811 single base substitution C G upstream_gene_variant ESAD-UK 2 230788397 230788397 single base substitution T A upstream_gene_variant ESAD-UK 2 230790007 230790007 single base substitution T G upstream_gene_variant ESAD-UK 2 230791040 230791040 single base substitution G A upstream_gene_variant ESAD-UK 2 230791048 230791048 single base substitution G A upstream_gene_variant ESAD-UK 2 230791221 230791221 single base substitution G A upstream_gene_variant ESAD-UK 2 230791822 230791822 single base substitution C T upstream_gene_variant ESCA-CN 2 230678734 230678734 single base substitution T A exon_variant ESCA-CN 2 230678734 230678734 single base substitution T A intron_variant ESCA-CN 2 230678734 230678734 single base substitution T A missense_variant D268V 803A>T ESCA-CN 2 230678734 230678734 single base substitution T A missense_variant D565V 1694A>T ESCA-CN 2 230678734 230678734 single base substitution T A missense_variant D613V 1838A>T ESCA-CN 2 230679847 230679847 single base substitution C A exon_variant ESCA-CN 2 230679847 230679847 single base substitution C A intron_variant ESCA-CN 2 230679847 230679847 single base substitution C A missense_variant V222L 664G>T ESCA-CN 2 230679847 230679847 single base substitution C A missense_variant V519L 1555G>T ESCA-CN 2 230679847 230679847 single base substitution C A missense_variant V567L 1699G>T ESCA-CN 2 230679847 230679847 single base substitution C A upstream_gene_variant GBM-US 2 230663714 230663714 single base substitution A C 3_prime_UTR_variant GBM-US 2 230663714 230663714 single base substitution A C downstream_gene_variant GBM-US 2 230663714 230663714 single base substitution A C missense_variant L1045W 3134T>G GBM-US 2 230663714 230663714 single base substitution A C missense_variant L1093W 3278T>G GBM-US 2 230663714 230663714 single base substitution A C missense_variant L775W 2324T>G GBM-US 2 230663714 230663714 single base substitution A C upstream_gene_variant GBM-US 2 230663734 230663734 single base substitution T C 3_prime_UTR_variant GBM-US 2 230663734 230663734 single base substitution T C downstream_gene_variant GBM-US 2 230663734 230663734 single base substitution T C synonymous_variant K1038K 3114A>G GBM-US 2 230663734 230663734 single base substitution T C synonymous_variant K1086K 3258A>G GBM-US 2 230663734 230663734 single base substitution T C synonymous_variant K768K 2304A>G GBM-US 2 230663734 230663734 single base substitution T C upstream_gene_variant GBM-US 2 230663763 230663763 single base substitution T C downstream_gene_variant GBM-US 2 230663763 230663763 single base substitution T C missense_variant K1029E 3085A>G GBM-US 2 230663763 230663763 single base substitution T C missense_variant K1077E 3229A>G GBM-US 2 230663763 230663763 single base substitution T C missense_variant K759E 2275A>G GBM-US 2 230663763 230663763 single base substitution T C splice_region_variant GBM-US 2 230663763 230663763 single base substitution T C upstream_gene_variant GBM-US 2 230724206 230724206 single base substitution C T exon_variant GBM-US 2 230724206 230724206 single base substitution C T intron_variant GBM-US 2 230724206 230724206 single base substitution C T synonymous_variant G103G 309G>A GBM-US 2 230724206 230724206 single base substitution C T synonymous_variant G61G 183G>A GBM-US 2 230724206 230724206 single base substitution C T upstream_gene_variant KIRC-US 2 230642131 230642131 single base substitution G T exon_variant KIRC-US 2 230642131 230642131 single base substitution G T stop_gained S1465* 4394C>A KIRC-US 2 230642131 230642131 single base substitution G T stop_gained S1735* 5204C>A KIRC-US 2 230642131 230642131 single base substitution G T stop_gained S1783* 5348C>A KIRC-US 2 230642131 230642131 single base substitution G T stop_gained S33* 98C>A KIRC-US 2 230650536 230650536 single base substitution C A synonymous_variant A1332A 3996G>T KIRC-US 2 230650536 230650536 single base substitution C A synonymous_variant A1602A 4806G>T KIRC-US 2 230650536 230650536 single base substitution C A synonymous_variant A1650A 4950G>T KIRC-US 2 230675664 230675664 insertion of <=200bp - T downstream_gene_variant KIRC-US 2 230675664 230675664 insertion of <=200bp - T exon_variant KIRC-US 2 230675664 230675664 insertion of <=200bp - T frameshift_variant M373I? KIRC-US 2 230675664 230675664 insertion of <=200bp - T frameshift_variant M670I? KIRC-US 2 230675664 230675664 insertion of <=200bp - T frameshift_variant M718I? KIRC-US 2 230675664 230675664 insertion of <=200bp - T intron_variant KIRC-US 2 230675664 230675664 insertion of <=200bp - T upstream_gene_variant KIRC-US 2 230675716 230675716 single base substitution G A exon_variant KIRC-US 2 230675716 230675716 single base substitution G A intron_variant KIRC-US 2 230675716 230675716 single base substitution G A stop_gained Q356* 1066C>T KIRC-US 2 230675716 230675716 single base substitution G A stop_gained Q653* 1957C>T KIRC-US 2 230675716 230675716 single base substitution G A stop_gained Q701* 2101C>T KIRC-US 2 230675716 230675716 single base substitution G A upstream_gene_variant KIRP-US 2 230701700 230701702 deletion of <=200bp ACT - frameshift_variant S177 KIRP-US 2 230701700 230701702 deletion of <=200bp ACT - frameshift_variant S33 KIRP-US 2 230701700 230701702 deletion of <=200bp ACT - frameshift_variant S336 KIRP-US 2 230701700 230701702 deletion of <=200bp ACT - frameshift_variant S378 KIRP-US 2 230701700 230701702 deletion of <=200bp ACT - intron_variant KIRP-US 2 230701700 230701702 deletion of <=200bp ACT - splice_acceptor_variant LAML-KR 2 230636140 230636140 single base substitution T A downstream_gene_variant LAML-KR 2 230636140 230636140 single base substitution T A intron_variant LAML-KR 2 230642209 230642209 single base substitution T C intron_variant LGG-US 2 230638967 230638968 deletion of <=200bp CT - exon_variant LGG-US 2 230638967 230638968 deletion of <=200bp CT - frameshift_variant S1502 LGG-US 2 230638967 230638968 deletion of <=200bp CT - frameshift_variant S1772 LGG-US 2 230638967 230638968 deletion of <=200bp CT - frameshift_variant S1820 LGG-US 2 230638967 230638968 deletion of <=200bp CT - frameshift_variant S70 LGG-US 2 230668911 230668911 single base substitution G A downstream_gene_variant LGG-US 2 230668911 230668911 single base substitution G A exon_variant LGG-US 2 230668911 230668911 single base substitution G A intron_variant LGG-US 2 230668911 230668911 single base substitution G A stop_gained R550* 1648C>T LGG-US 2 230668911 230668911 single base substitution G A stop_gained R820* 2458C>T LGG-US 2 230668911 230668911 single base substitution G A stop_gained R868* 2602C>T LGG-US 2 230672968 230672968 single base substitution C A downstream_gene_variant LGG-US 2 230672968 230672968 single base substitution C A intron_variant LGG-US 2 230672968 230672968 single base substitution C A missense_variant C435F 1304G>T LGG-US 2 230672968 230672968 single base substitution C A missense_variant C732F 2195G>T LGG-US 2 230672968 230672968 single base substitution C A missense_variant C780F 2339G>T LGG-US 2 230672968 230672968 single base substitution C A splice_region_variant LGG-US 2 230672968 230672968 single base substitution C A upstream_gene_variant LGG-US 2 230723871 230723871 single base substitution G A downstream_gene_variant LGG-US 2 230723871 230723871 single base substitution G A exon_variant LGG-US 2 230723871 230723871 single base substitution G A intron_variant LGG-US 2 230723871 230723871 single base substitution G A missense_variant A173V 518C>T LGG-US 2 230723871 230723871 single base substitution G A missense_variant A215V 644C>T LGG-US 2 230723871 230723871 single base substitution G A missense_variant A43V 128C>T LGG-US 2 230724205 230724205 insertion of <=200bp - C exon_variant LGG-US 2 230724205 230724205 insertion of <=200bp - C frameshift_variant Q104R? LGG-US 2 230724205 230724205 insertion of <=200bp - C frameshift_variant Q62R? LGG-US 2 230724205 230724205 insertion of <=200bp - C intron_variant LGG-US 2 230724205 230724205 insertion of <=200bp - C upstream_gene_variant LIAD-FR 2 230654476 230654476 single base substitution C T downstream_gene_variant LIAD-FR 2 230654476 230654476 single base substitution C T missense_variant G1171R 3511G>A LIAD-FR 2 230654476 230654476 single base substitution C T missense_variant G1441R 4321G>A LIAD-FR 2 230654476 230654476 single base substitution C T missense_variant G1489R 4465G>A LICA-CN 2 230650531 230650531 single base substitution G A missense_variant S1334F 4001C>T LICA-CN 2 230650531 230650531 single base substitution G A missense_variant S1604F 4811C>T LICA-CN 2 230650531 230650531 single base substitution G A missense_variant S1652F 4955C>T LICA-CN 2 230679852 230679852 single base substitution G A exon_variant LICA-CN 2 230679852 230679852 single base substitution G A intron_variant LICA-CN 2 230679852 230679852 single base substitution G A missense_variant A220V 659C>T LICA-CN 2 230679852 230679852 single base substitution G A missense_variant A517V 1550C>T LICA-CN 2 230679852 230679852 single base substitution G A missense_variant A565V 1694C>T LICA-CN 2 230679852 230679852 single base substitution G A upstream_gene_variant LICA-CN 2 230679853 230679853 single base substitution C A exon_variant LICA-CN 2 230679853 230679853 single base substitution C A intron_variant LICA-CN 2 230679853 230679853 single base substitution C A missense_variant A220S 658G>T LICA-CN 2 230679853 230679853 single base substitution C A missense_variant A517S 1549G>T LICA-CN 2 230679853 230679853 single base substitution C A missense_variant A565S 1693G>T LICA-CN 2 230679853 230679853 single base substitution C A upstream_gene_variant LICA-FR 2 230628658 230628658 single base substitution T C 3_prime_UTR_variant LICA-FR 2 230628658 230628658 single base substitution T C downstream_gene_variant LICA-FR 2 230634993 230634993 single base substitution T G downstream_gene_variant LICA-FR 2 230634993 230634993 single base substitution T G intron_variant LICA-FR 2 230641085 230641085 single base substitution T C intron_variant LICA-FR 2 230642174 230642174 single base substitution G T exon_variant LICA-FR 2 230642174 230642174 single base substitution G T missense_variant P1451T 4351C>A LICA-FR 2 230642174 230642174 single base substitution G T missense_variant P1721T 5161C>A LICA-FR 2 230642174 230642174 single base substitution G T missense_variant P1769T 5305C>A LICA-FR 2 230642174 230642174 single base substitution G T missense_variant P19T 55C>A LICA-FR 2 230645576 230645576 single base substitution T C intron_variant LICA-FR 2 230645576 230645576 single base substitution T C upstream_gene_variant LICA-FR 2 230648527 230648527 deletion of <=200bp A - intron_variant LICA-FR 2 230661353 230661353 single base substitution C T downstream_gene_variant LICA-FR 2 230661353 230661353 single base substitution C T exon_variant LICA-FR 2 230661353 230661353 single base substitution C T missense_variant R1182K 3545G>A LICA-FR 2 230661353 230661353 single base substitution C T missense_variant R1230K 3689G>A LICA-FR 2 230661353 230661353 single base substitution C T missense_variant R912K 2735G>A LICA-FR 2 230661353 230661353 single base substitution C T upstream_gene_variant LICA-FR 2 230663696 230663696 single base substitution C T 3_prime_UTR_variant LICA-FR 2 230663696 230663696 single base substitution C T downstream_gene_variant LICA-FR 2 230663696 230663696 single base substitution C T missense_variant G1051E 3152G>A LICA-FR 2 230663696 230663696 single base substitution C T missense_variant G1099E 3296G>A LICA-FR 2 230663696 230663696 single base substitution C T missense_variant G781E 2342G>A LICA-FR 2 230663696 230663696 single base substitution C T upstream_gene_variant LICA-FR 2 230689370 230689370 single base substitution G A intron_variant LICA-FR 2 230696208 230696208 single base substitution A T intron_variant LICA-FR 2 230710750 230710750 single base substitution T G intron_variant LICA-FR 2 230724000 230724000 single base substitution G T downstream_gene_variant LICA-FR 2 230724000 230724000 single base substitution G T exon_variant LICA-FR 2 230724000 230724000 single base substitution G T intron_variant LICA-FR 2 230724000 230724000 single base substitution G T missense_variant T130K 389C>A LICA-FR 2 230724000 230724000 single base substitution G T missense_variant T172K 515C>A LICA-FR 2 230724000 230724000 single base substitution G T upstream_gene_variant LICA-FR 2 230724601 230724601 single base substitution G T intron_variant LICA-FR 2 230724601 230724601 single base substitution G T upstream_gene_variant LICA-FR 2 230745955 230745955 single base substitution T C intron_variant LICA-FR 2 230760209 230760209 single base substitution T A intron_variant LICA-FR 2 230769991 230769991 deletion of <=200bp A - intron_variant LICA-FR 2 230785730 230785730 single base substitution T A intron_variant LIHC-US 2 230632438 230632438 single base substitution T A downstream_gene_variant LIHC-US 2 230632438 230632438 single base substitution T A synonymous_variant T1667T 5001A>T LIHC-US 2 230632438 230632438 single base substitution T A synonymous_variant T1937T 5811A>T LIHC-US 2 230632438 230632438 single base substitution T A synonymous_variant T1985T 5955A>T LIHC-US 2 230657707 230657707 single base substitution T A downstream_gene_variant LIHC-US 2 230657707 230657707 single base substitution T A exon_variant LIHC-US 2 230657707 230657707 single base substitution T A stop_gained R1030* 3088A>T LIHC-US 2 230657707 230657707 single base substitution T A stop_gained R1300* 3898A>T LIHC-US 2 230657707 230657707 single base substitution T A stop_gained R1348* 4042A>T LIHC-US 2 230661327 230661327 deletion of <=200bp G - downstream_gene_variant LIHC-US 2 230661327 230661327 deletion of <=200bp G - exon_variant LIHC-US 2 230661327 230661327 deletion of <=200bp G - frameshift_variant H1191 LIHC-US 2 230661327 230661327 deletion of <=200bp G - frameshift_variant H1239 LIHC-US 2 230661327 230661327 deletion of <=200bp G - frameshift_variant H921 LIHC-US 2 230661327 230661327 deletion of <=200bp G - upstream_gene_variant LIHC-US 2 230667054 230667054 single base substitution G A downstream_gene_variant LIHC-US 2 230667054 230667054 single base substitution G A exon_variant LIHC-US 2 230667054 230667054 single base substitution G A intron_variant LIHC-US 2 230667054 230667054 single base substitution G A synonymous_variant A1013A 3039C>T LIHC-US 2 230667054 230667054 single base substitution G A synonymous_variant A695A 2085C>T LIHC-US 2 230667054 230667054 single base substitution G A synonymous_variant A965A 2895C>T LIHC-US 2 230668295 230668295 single base substitution C T downstream_gene_variant LIHC-US 2 230668295 230668295 single base substitution C T exon_variant LIHC-US 2 230668295 230668295 single base substitution C T intron_variant LIHC-US 2 230668295 230668295 single base substitution C T missense_variant R652K 1955G>A LIHC-US 2 230668295 230668295 single base substitution C T missense_variant R922K 2765G>A LIHC-US 2 230668295 230668295 single base substitution C T missense_variant R970K 2909G>A LIHC-US 2 230672989 230672989 single base substitution T A downstream_gene_variant LIHC-US 2 230672989 230672989 single base substitution T A exon_variant LIHC-US 2 230672989 230672989 single base substitution T A intron_variant LIHC-US 2 230672989 230672989 single base substitution T A missense_variant Y428F 1283A>T LIHC-US 2 230672989 230672989 single base substitution T A missense_variant Y725F 2174A>T LIHC-US 2 230672989 230672989 single base substitution T A missense_variant Y773F 2318A>T LIHC-US 2 230672989 230672989 single base substitution T A upstream_gene_variant LIHC-US 2 230723949 230723949 single base substitution T A downstream_gene_variant LIHC-US 2 230723949 230723949 single base substitution T A exon_variant LIHC-US 2 230723949 230723949 single base substitution T A intron_variant LIHC-US 2 230723949 230723949 single base substitution T A missense_variant Q147L 440A>T LIHC-US 2 230723949 230723949 single base substitution T A missense_variant Q17L 50A>T LIHC-US 2 230723949 230723949 single base substitution T A missense_variant Q189L 566A>T LIHC-US 2 230724096 230724096 single base substitution G A exon_variant LIHC-US 2 230724096 230724096 single base substitution G A intron_variant LIHC-US 2 230724096 230724096 single base substitution G A missense_variant T140I 419C>T LIHC-US 2 230724096 230724096 single base substitution G A missense_variant T98I 293C>T LIHC-US 2 230724096 230724096 single base substitution G A upstream_gene_variant LIHC-US 2 230787284 230787284 single base substitution C G intron_variant LIHC-US 2 230787284 230787284 single base substitution C G upstream_gene_variant LINC-JP 2 230624267 230624267 deletion of <=200bp A - downstream_gene_variant LINC-JP 2 230625667 230625667 single base substitution A G downstream_gene_variant LINC-JP 2 230625684 230625684 single base substitution C G downstream_gene_variant LINC-JP 2 230627601 230627601 deletion of <=200bp A - downstream_gene_variant LINC-JP 2 230629022 230629022 single base substitution G C 3_prime_UTR_variant LINC-JP 2 230629022 230629022 single base substitution G C downstream_gene_variant LINC-JP 2 230632110 230632110 single base substitution T C 3_prime_UTR_variant LINC-JP 2 230632110 230632110 single base substitution T C downstream_gene_variant LINC-JP 2 230635782 230635782 single base substitution T C downstream_gene_variant LINC-JP 2 230635782 230635782 single base substitution T C intron_variant LINC-JP 2 230639020 230639020 single base substitution A C intron_variant LINC-JP 2 230640689 230640689 single base substitution A G intron_variant LINC-JP 2 230642086 230642086 single base substitution T C exon_variant LINC-JP 2 230642086 230642086 single base substitution T C missense_variant Y1480C 4439A>G LINC-JP 2 230642086 230642086 single base substitution T C missense_variant Y1750C 5249A>G LINC-JP 2 230642086 230642086 single base substitution T C missense_variant Y1798C 5393A>G LINC-JP 2 230642086 230642086 single base substitution T C missense_variant Y48C 143A>G LINC-JP 2 230644348 230644348 single base substitution G A intron_variant LINC-JP 2 230644348 230644348 single base substitution G A upstream_gene_variant LINC-JP 2 230650395 230650395 single base substitution T C intron_variant LINC-JP 2 230651896 230651896 single base substitution T C downstream_gene_variant LINC-JP 2 230651896 230651896 single base substitution T C intron_variant LINC-JP 2 230652381 230652381 single base substitution T C downstream_gene_variant LINC-JP 2 230652381 230652381 single base substitution T C splice_region_variant LINC-JP 2 230653414 230653414 single base substitution T C downstream_gene_variant LINC-JP 2 230653414 230653414 single base substitution T C intron_variant LINC-JP 2 230653846 230653846 single base substitution C T downstream_gene_variant LINC-JP 2 230653846 230653846 single base substitution C T intron_variant LINC-JP 2 230654473 230654473 single base substitution C T downstream_gene_variant LINC-JP 2 230654473 230654473 single base substitution C T missense_variant V1172M 3514G>A LINC-JP 2 230654473 230654473 single base substitution C T missense_variant V1442M 4324G>A LINC-JP 2 230654473 230654473 single base substitution C T missense_variant V1490M 4468G>A LINC-JP 2 230656223 230656223 single base substitution A G downstream_gene_variant LINC-JP 2 230656223 230656223 single base substitution A G intron_variant LINC-JP 2 230656988 230656988 deletion of <=200bp A - downstream_gene_variant LINC-JP 2 230656988 230656988 deletion of <=200bp A - intron_variant LINC-JP 2 230660028 230660028 single base substitution T C downstream_gene_variant LINC-JP 2 230660028 230660028 single base substitution T C exon_variant LINC-JP 2 230660028 230660028 single base substitution T C missense_variant I1204V 3610A>G LINC-JP 2 230660028 230660028 single base substitution T C missense_variant I1252V 3754A>G LINC-JP 2 230660028 230660028 single base substitution T C missense_variant I934V 2800A>G LINC-JP 2 230660028 230660028 single base substitution T C upstream_gene_variant LINC-JP 2 230661347 230661347 single base substitution A C downstream_gene_variant LINC-JP 2 230661347 230661347 single base substitution A C exon_variant LINC-JP 2 230661347 230661347 single base substitution A C missense_variant I1184S 3551T>G LINC-JP 2 230661347 230661347 single base substitution A C missense_variant I1232S 3695T>G LINC-JP 2 230661347 230661347 single base substitution A C missense_variant I914S 2741T>G LINC-JP 2 230661347 230661347 single base substitution A C upstream_gene_variant LINC-JP 2 230663181 230663181 deletion of <=200bp A - downstream_gene_variant LINC-JP 2 230663181 230663181 deletion of <=200bp A - intron_variant LINC-JP 2 230663181 230663181 deletion of <=200bp A - upstream_gene_variant LINC-JP 2 230668596 230668596 single base substitution C G downstream_gene_variant LINC-JP 2 230668596 230668596 single base substitution C G intron_variant LINC-JP 2 230671812 230671812 single base substitution C T downstream_gene_variant LINC-JP 2 230671812 230671812 single base substitution C T intron_variant LINC-JP 2 230671812 230671812 single base substitution C T upstream_gene_variant LINC-JP 2 230672383 230672383 single base substitution A T downstream_gene_variant LINC-JP 2 230672383 230672383 single base substitution A T exon_variant LINC-JP 2 230672383 230672383 single base substitution A T intron_variant LINC-JP 2 230672383 230672383 single base substitution A T upstream_gene_variant LINC-JP 2 230672543 230672543 single base substitution C T downstream_gene_variant LINC-JP 2 230672543 230672543 single base substitution C T exon_variant LINC-JP 2 230672543 230672543 single base substitution C T intron_variant LINC-JP 2 230672543 230672543 single base substitution C T missense_variant A448T 1342G>A LINC-JP 2 230672543 230672543 single base substitution C T missense_variant A745T 2233G>A LINC-JP 2 230672543 230672543 single base substitution C T missense_variant A793T 2377G>A LINC-JP 2 230672543 230672543 single base substitution C T upstream_gene_variant LINC-JP 2 230680190 230680190 single base substitution A T intron_variant LINC-JP 2 230680190 230680190 single base substitution A T upstream_gene_variant LINC-JP 2 230680525 230680525 single base substitution T C intron_variant LINC-JP 2 230680525 230680525 single base substitution T C upstream_gene_variant LINC-JP 2 230681058 230681058 single base substitution C A intron_variant LINC-JP 2 230681058 230681058 single base substitution C A upstream_gene_variant LINC-JP 2 230682940 230682940 single base substitution C G intron_variant LINC-JP 2 230682940 230682940 single base substitution C G upstream_gene_variant LINC-JP 2 230683048 230683048 single base substitution A C intron_variant LINC-JP 2 230683048 230683048 single base substitution A C upstream_gene_variant LINC-JP 2 230683299 230683299 single base substitution G A intron_variant LINC-JP 2 230683299 230683299 single base substitution G A upstream_gene_variant LINC-JP 2 230687858 230687858 single base substitution A C intron_variant LINC-JP 2 230705808 230705808 single base substitution A T intron_variant LINC-JP 2 230707039 230707039 single base substitution T C intron_variant LINC-JP 2 230710176 230710176 single base substitution T C intron_variant LINC-JP 2 230710593 230710593 single base substitution A T intron_variant LINC-JP 2 230731826 230731826 single base substitution T G intron_variant LINC-JP 2 230732700 230732700 single base substitution G C intron_variant LINC-JP 2 230742226 230742226 single base substitution G T intron_variant LINC-JP 2 230742234 230742234 single base substitution G C intron_variant LINC-JP 2 230743171 230743171 single base substitution A G intron_variant LINC-JP 2 230750221 230750221 single base substitution T G intron_variant LINC-JP 2 230762826 230762826 single base substitution T C intron_variant LINC-JP 2 230771440 230771440 single base substitution C A intron_variant LINC-JP 2 230778920 230778920 single base substitution C T intron_variant LINC-JP 2 230779339 230779339 single base substitution A C intron_variant LIRI-JP 2 230623829 230623829 single base substitution C A downstream_gene_variant LIRI-JP 2 230624818 230624818 single base substitution C T downstream_gene_variant LIRI-JP 2 230625145 230625145 single base substitution T G downstream_gene_variant LIRI-JP 2 230626147 230626147 single base substitution C T downstream_gene_variant LIRI-JP 2 230628051 230628051 single base substitution A G downstream_gene_variant LIRI-JP 2 230628162 230628162 single base substitution A G downstream_gene_variant LIRI-JP 2 230629056 230629056 single base substitution C G 3_prime_UTR_variant LIRI-JP 2 230629056 230629056 single base substitution C G downstream_gene_variant LIRI-JP 2 230629465 230629465 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 230629465 230629465 single base substitution T C downstream_gene_variant LIRI-JP 2 230631018 230631018 single base substitution G C 3_prime_UTR_variant LIRI-JP 2 230631018 230631018 single base substitution G C downstream_gene_variant LIRI-JP 2 230632093 230632093 single base substitution T G 3_prime_UTR_variant LIRI-JP 2 230632093 230632093 single base substitution T G downstream_gene_variant LIRI-JP 2 230632114 230632114 single base substitution T G 3_prime_UTR_variant LIRI-JP 2 230632114 230632114 single base substitution T G downstream_gene_variant LIRI-JP 2 230632303 230632303 single base substitution T G downstream_gene_variant LIRI-JP 2 230632303 230632303 single base substitution T G synonymous_variant A1712A 5136A>C LIRI-JP 2 230632303 230632303 single base substitution T G synonymous_variant A1982A 5946A>C LIRI-JP 2 230632303 230632303 single base substitution T G synonymous_variant A2030A 6090A>C LIRI-JP 2 230633146 230633146 deletion of <=200bp T - downstream_gene_variant LIRI-JP 2 230633146 230633146 deletion of <=200bp T - intron_variant LIRI-JP 2 230635749 230635775 deletion of <=200bp CATTTCTTCCATTCTCAGAAGTATTCT - downstream_gene_variant LIRI-JP 2 230635749 230635775 deletion of <=200bp CATTTCTTCCATTCTCAGAAGTATTCT - intron_variant LIRI-JP 2 230639657 230639657 single base substitution G A intron_variant LIRI-JP 2 230641066 230641066 single base substitution G A intron_variant LIRI-JP 2 230641453 230641453 single base substitution T C intron_variant LIRI-JP 2 230642182 230642182 single base substitution A C exon_variant LIRI-JP 2 230642182 230642182 single base substitution A C missense_variant L1448R 4343T>G LIRI-JP 2 230642182 230642182 single base substitution A C missense_variant L16R 47T>G LIRI-JP 2 230642182 230642182 single base substitution A C missense_variant L1718R 5153T>G LIRI-JP 2 230642182 230642182 single base substitution A C missense_variant L1766R 5297T>G LIRI-JP 2 230642289 230642289 single base substitution T C intron_variant LIRI-JP 2 230650196 230650196 single base substitution C G intron_variant LIRI-JP 2 230652531 230652531 single base substitution T C downstream_gene_variant LIRI-JP 2 230652531 230652531 single base substitution T C intron_variant LIRI-JP 2 230656016 230656016 single base substitution T C downstream_gene_variant LIRI-JP 2 230656016 230656016 single base substitution T C intron_variant LIRI-JP 2 230656534 230656534 single base substitution C A downstream_gene_variant LIRI-JP 2 230656534 230656534 single base substitution C A exon_variant LIRI-JP 2 230656534 230656534 single base substitution C A intron_variant LIRI-JP 2 230656655 230656655 single base substitution C T downstream_gene_variant LIRI-JP 2 230656655 230656655 single base substitution C T exon_variant LIRI-JP 2 230656655 230656655 single base substitution C T missense_variant E1103K 3307G>A LIRI-JP 2 230656655 230656655 single base substitution C T missense_variant E1373K 4117G>A LIRI-JP 2 230656655 230656655 single base substitution C T missense_variant E1421K 4261G>A LIRI-JP 2 230657132 230657132 single base substitution T C downstream_gene_variant LIRI-JP 2 230657132 230657132 single base substitution T C intron_variant LIRI-JP 2 230657170 230657170 single base substitution T C downstream_gene_variant LIRI-JP 2 230657170 230657170 single base substitution T C intron_variant LIRI-JP 2 230657676 230657688 deletion of <=200bp ATATGGAAAGTAC - downstream_gene_variant LIRI-JP 2 230657676 230657688 deletion of <=200bp ATATGGAAAGTAC - splice_donor_variant LIRI-JP 2 230658065 230658065 single base substitution G A downstream_gene_variant LIRI-JP 2 230658065 230658065 single base substitution G A exon_variant LIRI-JP 2 230658065 230658065 single base substitution G A intron_variant LIRI-JP 2 230658065 230658065 single base substitution G A upstream_gene_variant LIRI-JP 2 230659044 230659044 single base substitution A G downstream_gene_variant LIRI-JP 2 230659044 230659044 single base substitution A G intron_variant LIRI-JP 2 230659044 230659044 single base substitution A G upstream_gene_variant LIRI-JP 2 230660965 230660965 insertion of <=200bp - A downstream_gene_variant LIRI-JP 2 230660965 230660965 insertion of <=200bp - A intron_variant LIRI-JP 2 230660965 230660965 insertion of <=200bp - A upstream_gene_variant LIRI-JP 2 230661091 230661091 single base substitution T C downstream_gene_variant LIRI-JP 2 230661091 230661091 single base substitution T C intron_variant LIRI-JP 2 230661091 230661091 single base substitution T C upstream_gene_variant LIRI-JP 2 230661926 230661926 single base substitution A T intron_variant LIRI-JP 2 230661926 230661926 single base substitution A T upstream_gene_variant LIRI-JP 2 230662334 230662334 single base substitution T C downstream_gene_variant LIRI-JP 2 230662334 230662334 single base substitution T C intron_variant LIRI-JP 2 230662334 230662334 single base substitution T C upstream_gene_variant LIRI-JP 2 230662907 230662907 single base substitution T C downstream_gene_variant LIRI-JP 2 230662907 230662907 single base substitution T C intron_variant LIRI-JP 2 230662907 230662907 single base substitution T C upstream_gene_variant LIRI-JP 2 230663175 230663175 single base substitution G T downstream_gene_variant LIRI-JP 2 230663175 230663175 single base substitution G T intron_variant LIRI-JP 2 230663175 230663175 single base substitution G T upstream_gene_variant LIRI-JP 2 230663796 230663796 single base substitution T C downstream_gene_variant LIRI-JP 2 230663796 230663796 single base substitution T C intron_variant LIRI-JP 2 230663796 230663796 single base substitution T C upstream_gene_variant LIRI-JP 2 230664863 230664863 single base substitution T C downstream_gene_variant LIRI-JP 2 230664863 230664863 single base substitution T C intron_variant LIRI-JP 2 230664863 230664863 single base substitution T C upstream_gene_variant LIRI-JP 2 230666519 230666519 single base substitution A G downstream_gene_variant LIRI-JP 2 230666519 230666519 single base substitution A G intron_variant LIRI-JP 2 230668136 230668136 single base substitution A G downstream_gene_variant LIRI-JP 2 230668136 230668136 single base substitution A G intron_variant LIRI-JP 2 230669058 230669058 single base substitution T C downstream_gene_variant LIRI-JP 2 230669058 230669058 single base substitution T C intron_variant LIRI-JP 2 230670222 230670222 single base substitution G C downstream_gene_variant LIRI-JP 2 230670222 230670222 single base substitution G C intron_variant LIRI-JP 2 230670528 230670528 single base substitution A G downstream_gene_variant LIRI-JP 2 230670528 230670528 single base substitution A G exon_variant LIRI-JP 2 230670528 230670528 single base substitution A G intron_variant LIRI-JP 2 230670528 230670528 single base substitution A G synonymous_variant N511N 1533T>C LIRI-JP 2 230670603 230670603 single base substitution A C downstream_gene_variant LIRI-JP 2 230670603 230670603 single base substitution A C exon_variant LIRI-JP 2 230670603 230670603 single base substitution A C intron_variant LIRI-JP 2 230670603 230670603 single base substitution A C splice_region_variant LIRI-JP 2 230671005 230671005 single base substitution C T downstream_gene_variant LIRI-JP 2 230671005 230671005 single base substitution C T intron_variant LIRI-JP 2 230671005 230671005 single base substitution C T upstream_gene_variant LIRI-JP 2 230671433 230671433 single base substitution A G downstream_gene_variant LIRI-JP 2 230671433 230671433 single base substitution A G intron_variant LIRI-JP 2 230671433 230671433 single base substitution A G upstream_gene_variant LIRI-JP 2 230671476 230671476 single base substitution T C downstream_gene_variant LIRI-JP 2 230671476 230671476 single base substitution T C intron_variant LIRI-JP 2 230671476 230671476 single base substitution T C upstream_gene_variant LIRI-JP 2 230671827 230671827 single base substitution T C downstream_gene_variant LIRI-JP 2 230671827 230671827 single base substitution T C intron_variant LIRI-JP 2 230671827 230671827 single base substitution T C upstream_gene_variant LIRI-JP 2 230672041 230672041 single base substitution T C downstream_gene_variant LIRI-JP 2 230672041 230672041 single base substitution T C exon_variant LIRI-JP 2 230672041 230672041 single base substitution T C intron_variant LIRI-JP 2 230672041 230672041 single base substitution T C upstream_gene_variant LIRI-JP 2 230674252 230674252 single base substitution C T downstream_gene_variant LIRI-JP 2 230674252 230674252 single base substitution C T intron_variant LIRI-JP 2 230674252 230674252 single base substitution C T upstream_gene_variant LIRI-JP 2 230675170 230675170 single base substitution T C downstream_gene_variant LIRI-JP 2 230675170 230675170 single base substitution T C intron_variant LIRI-JP 2 230675170 230675170 single base substitution T C upstream_gene_variant LIRI-JP 2 230678116 230678116 single base substitution T C intron_variant LIRI-JP 2 230679609 230679609 single base substitution A C intron_variant LIRI-JP 2 230679609 230679609 single base substitution A C upstream_gene_variant LIRI-JP 2 230680096 230680096 deletion of <=200bp T - intron_variant LIRI-JP 2 230680096 230680096 deletion of <=200bp T - upstream_gene_variant LIRI-JP 2 230681729 230681729 single base substitution G A intron_variant LIRI-JP 2 230681729 230681729 single base substitution G A upstream_gene_variant LIRI-JP 2 230683374 230683374 single base substitution T C intron_variant LIRI-JP 2 230683374 230683374 single base substitution T C upstream_gene_variant LIRI-JP 2 230685551 230685551 single base substitution C A intron_variant LIRI-JP 2 230685715 230685715 single base substitution T A intron_variant LIRI-JP 2 230686235 230686235 single base substitution T C intron_variant LIRI-JP 2 230686683 230686683 single base substitution C A intron_variant LIRI-JP 2 230686692 230686692 single base substitution C G intron_variant LIRI-JP 2 230690933 230690933 single base substitution T C downstream_gene_variant LIRI-JP 2 230690933 230690933 single base substitution T C intron_variant LIRI-JP 2 230691434 230691434 single base substitution T C downstream_gene_variant LIRI-JP 2 230691434 230691434 single base substitution T C intron_variant LIRI-JP 2 230691810 230691810 single base substitution C G downstream_gene_variant LIRI-JP 2 230691810 230691810 single base substitution C G intron_variant LIRI-JP 2 230692879 230692879 single base substitution T C downstream_gene_variant LIRI-JP 2 230692879 230692879 single base substitution T C intron_variant LIRI-JP 2 230692968 230692968 single base substitution T C downstream_gene_variant LIRI-JP 2 230692968 230692968 single base substitution T C intron_variant LIRI-JP 2 230693605 230693605 single base substitution T C downstream_gene_variant LIRI-JP 2 230693605 230693605 single base substitution T C intron_variant LIRI-JP 2 230694304 230694304 single base substitution T C downstream_gene_variant LIRI-JP 2 230694304 230694304 single base substitution T C intron_variant LIRI-JP 2 230694445 230694445 single base substitution A G downstream_gene_variant LIRI-JP 2 230694445 230694445 single base substitution A G intron_variant LIRI-JP 2 230695159 230695159 single base substitution T C downstream_gene_variant LIRI-JP 2 230695159 230695159 single base substitution T C intron_variant LIRI-JP 2 230695253 230695253 single base substitution T C downstream_gene_variant LIRI-JP 2 230695253 230695253 single base substitution T C intron_variant LIRI-JP 2 230695376 230695376 single base substitution G A downstream_gene_variant LIRI-JP 2 230695376 230695376 single base substitution G A intron_variant LIRI-JP 2 230695535 230695535 single base substitution C A downstream_gene_variant LIRI-JP 2 230695535 230695535 single base substitution C A exon_variant LIRI-JP 2 230695535 230695535 single base substitution C A intron_variant LIRI-JP 2 230695535 230695535 single base substitution C A missense_variant A383S 1147G>T LIRI-JP 2 230695535 230695535 single base substitution C A missense_variant A431S 1291G>T LIRI-JP 2 230695535 230695535 single base substitution C A missense_variant A86S 256G>T LIRI-JP 2 230696219 230696219 single base substitution T C intron_variant LIRI-JP 2 230697089 230697089 single base substitution T C downstream_gene_variant LIRI-JP 2 230697089 230697089 single base substitution T C intron_variant LIRI-JP 2 230697861 230697861 single base substitution C A downstream_gene_variant LIRI-JP 2 230697861 230697861 single base substitution C A intron_variant LIRI-JP 2 230698406 230698406 single base substitution T C downstream_gene_variant LIRI-JP 2 230698406 230698406 single base substitution T C intron_variant LIRI-JP 2 230698685 230698685 single base substitution T C downstream_gene_variant LIRI-JP 2 230698685 230698685 single base substitution T C intron_variant LIRI-JP 2 230699716 230699716 single base substitution C A downstream_gene_variant LIRI-JP 2 230699716 230699716 single base substitution C A intron_variant LIRI-JP 2 230700161 230700161 single base substitution T C downstream_gene_variant LIRI-JP 2 230700161 230700161 single base substitution T C intron_variant LIRI-JP 2 230702216 230702216 single base substitution T A intron_variant LIRI-JP 2 230703561 230703561 single base substitution T C intron_variant LIRI-JP 2 230704474 230704474 single base substitution G A intron_variant LIRI-JP 2 230704574 230704574 single base substitution T C intron_variant LIRI-JP 2 230705566 230705566 single base substitution T A exon_variant LIRI-JP 2 230705566 230705566 single base substitution T A intron_variant LIRI-JP 2 230705566 230705566 single base substitution T A stop_gained K168* 502A>T LIRI-JP 2 230705566 230705566 single base substitution T A stop_gained K327* 979A>T LIRI-JP 2 230705566 230705566 single base substitution T A stop_gained K369* 1105A>T LIRI-JP 2 230705888 230705888 single base substitution C T intron_variant LIRI-JP 2 230706782 230706782 single base substitution A T intron_variant LIRI-JP 2 230707083 230707083 single base substitution A C intron_variant LIRI-JP 2 230707413 230707413 single base substitution T C intron_variant LIRI-JP 2 230708538 230708538 single base substitution C A intron_variant LIRI-JP 2 230712034 230712034 single base substitution T C intron_variant LIRI-JP 2 230712271 230712271 single base substitution C T intron_variant LIRI-JP 2 230714236 230714236 single base substitution A T intron_variant LIRI-JP 2 230715222 230715222 single base substitution G A intron_variant LIRI-JP 2 230715253 230715253 single base substitution T A intron_variant LIRI-JP 2 230715261 230715261 single base substitution G C intron_variant LIRI-JP 2 230717402 230717402 single base substitution T C intron_variant LIRI-JP 2 230718470 230718470 single base substitution T C intron_variant LIRI-JP 2 230719975 230719975 single base substitution T C downstream_gene_variant LIRI-JP 2 230719975 230719975 single base substitution T C intron_variant LIRI-JP 2 230721700 230721700 single base substitution T C downstream_gene_variant LIRI-JP 2 230721700 230721700 single base substitution T C intron_variant LIRI-JP 2 230721768 230721768 single base substitution G A downstream_gene_variant LIRI-JP 2 230721768 230721768 single base substitution G A intron_variant LIRI-JP 2 230723270 230723270 single base substitution C T downstream_gene_variant LIRI-JP 2 230723270 230723270 single base substitution C T intron_variant LIRI-JP 2 230723539 230723539 single base substitution T C downstream_gene_variant LIRI-JP 2 230723539 230723539 single base substitution T C exon_variant LIRI-JP 2 230723539 230723539 single base substitution T C intron_variant LIRI-JP 2 230723539 230723539 single base substitution T C missense_variant K125E 373A>G LIRI-JP 2 230723539 230723539 single base substitution T C missense_variant K284E 850A>G LIRI-JP 2 230723539 230723539 single base substitution T C missense_variant K326E 976A>G LIRI-JP 2 230723632 230723632 single base substitution T C downstream_gene_variant LIRI-JP 2 230723632 230723632 single base substitution T C exon_variant LIRI-JP 2 230723632 230723632 single base substitution T C intron_variant LIRI-JP 2 230723632 230723632 single base substitution T C missense_variant K253E 757A>G LIRI-JP 2 230723632 230723632 single base substitution T C missense_variant K295E 883A>G LIRI-JP 2 230724546 230724546 single base substitution T C intron_variant LIRI-JP 2 230724546 230724546 single base substitution T C upstream_gene_variant LIRI-JP 2 230726996 230726997 deletion of <=200bp CT - intron_variant LIRI-JP 2 230726996 230726997 deletion of <=200bp CT - upstream_gene_variant LIRI-JP 2 230727770 230727770 single base substitution C T intron_variant LIRI-JP 2 230727770 230727770 single base substitution C T upstream_gene_variant LIRI-JP 2 230731718 230731718 single base substitution C A intron_variant LIRI-JP 2 230732577 230732577 single base substitution T C intron_variant LIRI-JP 2 230734094 230734094 single base substitution T C intron_variant LIRI-JP 2 230734731 230734731 single base substitution A G intron_variant LIRI-JP 2 230735649 230735649 single base substitution G A intron_variant LIRI-JP 2 230736149 230736149 single base substitution C A intron_variant LIRI-JP 2 230736879 230736879 single base substitution T A intron_variant LIRI-JP 2 230736962 230736962 single base substitution T C intron_variant LIRI-JP 2 230738205 230738205 single base substitution A G intron_variant LIRI-JP 2 230738523 230738523 single base substitution T C intron_variant LIRI-JP 2 230739201 230739201 single base substitution A G intron_variant LIRI-JP 2 230740006 230740006 single base substitution A T intron_variant LIRI-JP 2 230740679 230740679 single base substitution A G intron_variant LIRI-JP 2 230741172 230741172 single base substitution T C intron_variant LIRI-JP 2 230742491 230742494 deletion of <=200bp AGAC - intron_variant LIRI-JP 2 230746451 230746451 single base substitution A G intron_variant LIRI-JP 2 230746982 230746982 single base substitution C A intron_variant LIRI-JP 2 230747046 230747046 single base substitution A C intron_variant LIRI-JP 2 230747313 230747313 single base substitution A G intron_variant LIRI-JP 2 230750297 230750297 single base substitution G A intron_variant LIRI-JP 2 230751738 230751738 single base substitution G C intron_variant LIRI-JP 2 230752182 230752182 single base substitution T G intron_variant LIRI-JP 2 230752820 230752820 single base substitution T C intron_variant LIRI-JP 2 230752893 230752893 single base substitution C A intron_variant LIRI-JP 2 230754435 230754435 single base substitution A G intron_variant LIRI-JP 2 230757800 230757800 single base substitution T C intron_variant LIRI-JP 2 230758968 230758968 single base substitution T A intron_variant LIRI-JP 2 230759325 230759325 single base substitution G C intron_variant LIRI-JP 2 230760677 230760677 single base substitution G A intron_variant LIRI-JP 2 230761953 230761953 single base substitution T C intron_variant LIRI-JP 2 230762125 230762125 single base substitution A G intron_variant LIRI-JP 2 230762409 230762409 single base substitution T A intron_variant LIRI-JP 2 230763920 230763920 single base substitution C T intron_variant LIRI-JP 2 230765412 230765412 single base substitution T C intron_variant LIRI-JP 2 230771349 230771349 single base substitution T C intron_variant LIRI-JP 2 230771656 230771656 single base substitution G C intron_variant LIRI-JP 2 230772846 230772846 deletion of <=200bp C - intron_variant LIRI-JP 2 230773494 230773494 single base substitution G T intron_variant LIRI-JP 2 230776132 230776132 single base substitution C T intron_variant LIRI-JP 2 230778371 230778371 single base substitution T C intron_variant LIRI-JP 2 230781029 230781029 single base substitution A C intron_variant LIRI-JP 2 230782034 230782034 single base substitution C T intron_variant LIRI-JP 2 230782615 230782615 single base substitution C T intron_variant LIRI-JP 2 230783050 230783050 single base substitution T C intron_variant LIRI-JP 2 230785684 230785684 single base substitution T C intron_variant LIRI-JP 2 230787482 230787482 single base substitution C T intron_variant LIRI-JP 2 230787482 230787482 single base substitution C T upstream_gene_variant LIRI-JP 2 230788615 230788615 single base substitution C A upstream_gene_variant LIRI-JP 2 230788644 230788644 single base substitution C A upstream_gene_variant LIRI-JP 2 230792255 230792255 single base substitution A G upstream_gene_variant LIRI-JP 2 230792679 230792679 single base substitution C T upstream_gene_variant LIRI-JP 2 230792812 230792812 single base substitution A G upstream_gene_variant LUSC-KR 2 230623980 230623980 single base substitution G A downstream_gene_variant LUSC-KR 2 230628871 230628871 single base substitution G A 3_prime_UTR_variant LUSC-KR 2 230628871 230628871 single base substitution G A downstream_gene_variant LUSC-KR 2 230629585 230629585 single base substitution T G 3_prime_UTR_variant LUSC-KR 2 230629585 230629585 single base substitution T G downstream_gene_variant LUSC-KR 2 230631185 230631185 single base substitution C A 3_prime_UTR_variant LUSC-KR 2 230631185 230631185 single base substitution C A downstream_gene_variant LUSC-KR 2 230636748 230636748 single base substitution T A downstream_gene_variant LUSC-KR 2 230636748 230636748 single base substitution T A intron_variant LUSC-KR 2 230640436 230640436 single base substitution A T intron_variant LUSC-KR 2 230642180 230642180 single base substitution C A exon_variant LUSC-KR 2 230642180 230642180 single base substitution C A missense_variant G1449C 4345G>T LUSC-KR 2 230642180 230642180 single base substitution C A missense_variant G1719C 5155G>T LUSC-KR 2 230642180 230642180 single base substitution C A missense_variant G1767C 5299G>T LUSC-KR 2 230642180 230642180 single base substitution C A missense_variant G17C 49G>T LUSC-KR 2 230643807 230643807 single base substitution G A intron_variant LUSC-KR 2 230643807 230643807 single base substitution G A upstream_gene_variant LUSC-KR 2 230645156 230645156 single base substitution C G intron_variant LUSC-KR 2 230645156 230645156 single base substitution C G upstream_gene_variant LUSC-KR 2 230650345 230650345 single base substitution C G intron_variant LUSC-KR 2 230656708 230656708 single base substitution T C downstream_gene_variant LUSC-KR 2 230656708 230656708 single base substitution T C exon_variant LUSC-KR 2 230656708 230656708 single base substitution T C missense_variant Y1085C 3254A>G LUSC-KR 2 230656708 230656708 single base substitution T C missense_variant Y1355C 4064A>G LUSC-KR 2 230656708 230656708 single base substitution T C missense_variant Y1403C 4208A>G LUSC-KR 2 230660834 230660834 single base substitution T C downstream_gene_variant LUSC-KR 2 230660834 230660834 single base substitution T C intron_variant LUSC-KR 2 230660834 230660834 single base substitution T C upstream_gene_variant LUSC-KR 2 230667299 230667299 single base substitution C A downstream_gene_variant LUSC-KR 2 230667299 230667299 single base substitution C A intron_variant LUSC-KR 2 230667556 230667556 single base substitution C T downstream_gene_variant LUSC-KR 2 230667556 230667556 single base substitution C T intron_variant LUSC-KR 2 230675469 230675469 single base substitution C A downstream_gene_variant LUSC-KR 2 230675469 230675469 single base substitution C A intron_variant LUSC-KR 2 230675469 230675469 single base substitution C A upstream_gene_variant LUSC-KR 2 230678649 230678649 single base substitution C T exon_variant LUSC-KR 2 230678649 230678649 single base substitution C T intron_variant LUSC-KR 2 230678649 230678649 single base substitution C T synonymous_variant T296T 888G>A LUSC-KR 2 230678649 230678649 single base substitution C T synonymous_variant T593T 1779G>A LUSC-KR 2 230678649 230678649 single base substitution C T synonymous_variant T641T 1923G>A LUSC-KR 2 230691546 230691546 single base substitution T C downstream_gene_variant LUSC-KR 2 230691546 230691546 single base substitution T C intron_variant LUSC-KR 2 230691952 230691952 single base substitution C T downstream_gene_variant LUSC-KR 2 230691952 230691952 single base substitution C T intron_variant LUSC-KR 2 230694558 230694558 single base substitution A G downstream_gene_variant LUSC-KR 2 230694558 230694558 single base substitution A G intron_variant LUSC-KR 2 230701681 230701681 single base substitution C A exon_variant LUSC-KR 2 230701681 230701681 single base substitution C A intron_variant LUSC-KR 2 230701681 230701681 single base substitution C A missense_variant G184C 550G>T LUSC-KR 2 230701681 230701681 single base substitution C A missense_variant G343C 1027G>T LUSC-KR 2 230701681 230701681 single base substitution C A missense_variant G385C 1153G>T LUSC-KR 2 230701681 230701681 single base substitution C A missense_variant G40C 118G>T LUSC-KR 2 230703115 230703115 single base substitution G A intron_variant LUSC-KR 2 230703982 230703982 single base substitution C G intron_variant LUSC-KR 2 230704524 230704524 single base substitution C A intron_variant LUSC-KR 2 230704668 230704668 single base substitution C T intron_variant LUSC-KR 2 230706652 230706652 single base substitution G C intron_variant LUSC-KR 2 230707990 230707990 single base substitution C A intron_variant LUSC-KR 2 230712027 230712027 single base substitution C G intron_variant LUSC-KR 2 230713051 230713051 single base substitution A C intron_variant LUSC-KR 2 230714605 230714605 single base substitution T A intron_variant LUSC-KR 2 230714937 230714937 single base substitution C A intron_variant LUSC-KR 2 230720160 230720160 single base substitution G A downstream_gene_variant LUSC-KR 2 230720160 230720160 single base substitution G A intron_variant LUSC-KR 2 230722630 230722630 single base substitution T C downstream_gene_variant LUSC-KR 2 230722630 230722630 single base substitution T C intron_variant LUSC-KR 2 230724679 230724679 single base substitution C A intron_variant LUSC-KR 2 230724679 230724679 single base substitution C A upstream_gene_variant LUSC-KR 2 230726282 230726282 single base substitution C G intron_variant LUSC-KR 2 230726282 230726282 single base substitution C G upstream_gene_variant LUSC-KR 2 230731761 230731761 single base substitution T A intron_variant LUSC-KR 2 230735000 230735000 single base substitution C G intron_variant LUSC-KR 2 230739606 230739606 single base substitution A C intron_variant LUSC-KR 2 230743733 230743733 single base substitution C A intron_variant LUSC-KR 2 230747597 230747597 single base substitution C A intron_variant LUSC-KR 2 230750858 230750858 single base substitution T C intron_variant LUSC-KR 2 230755011 230755011 single base substitution G T intron_variant LUSC-KR 2 230759360 230759360 single base substitution T A intron_variant LUSC-KR 2 230765098 230765098 single base substitution C T intron_variant LUSC-KR 2 230771304 230771304 single base substitution C T intron_variant LUSC-KR 2 230772192 230772192 single base substitution C G intron_variant LUSC-KR 2 230775055 230775055 single base substitution C A intron_variant LUSC-KR 2 230775341 230775341 single base substitution T C intron_variant LUSC-KR 2 230776406 230776406 single base substitution C A intron_variant LUSC-KR 2 230788785 230788785 single base substitution G A upstream_gene_variant LUSC-US 2 230638826 230638826 single base substitution T A exon_variant LUSC-US 2 230638826 230638826 single base substitution T A missense_variant E117V 350A>T LUSC-US 2 230638826 230638826 single base substitution T A missense_variant E1549V 4646A>T LUSC-US 2 230638826 230638826 single base substitution T A missense_variant E1819V 5456A>T LUSC-US 2 230638826 230638826 single base substitution T A missense_variant E1867V 5600A>T LUSC-US 2 230638827 230638827 single base substitution C A exon_variant LUSC-US 2 230638827 230638827 single base substitution C A stop_gained E117* 349G>T LUSC-US 2 230638827 230638827 single base substitution C A stop_gained E1549* 4645G>T LUSC-US 2 230638827 230638827 single base substitution C A stop_gained E1819* 5455G>T LUSC-US 2 230638827 230638827 single base substitution C A stop_gained E1867* 5599G>T LUSC-US 2 230638891 230638891 single base substitution T A exon_variant LUSC-US 2 230638891 230638891 single base substitution T A synonymous_variant P1527P 4581A>T LUSC-US 2 230638891 230638891 single base substitution T A synonymous_variant P1797P 5391A>T LUSC-US 2 230638891 230638891 single base substitution T A synonymous_variant P1845P 5535A>T LUSC-US 2 230638891 230638891 single base substitution T A synonymous_variant P95P 285A>T LUSC-US 2 230643175 230643175 single base substitution C T exon_variant LUSC-US 2 230643175 230643175 single base substitution C T missense_variant A1435T 4303G>A LUSC-US 2 230643175 230643175 single base substitution C T missense_variant A1705T 5113G>A LUSC-US 2 230643175 230643175 single base substitution C T missense_variant A1753T 5257G>A LUSC-US 2 230643175 230643175 single base substitution C T missense_variant A3T 7G>A LUSC-US 2 230643658 230643658 single base substitution G C missense_variant Q1370E 4108C>G LUSC-US 2 230643658 230643658 single base substitution G C missense_variant Q1640E 4918C>G LUSC-US 2 230643658 230643658 single base substitution G C missense_variant Q1688E 5062C>G LUSC-US 2 230643658 230643658 single base substitution G C upstream_gene_variant LUSC-US 2 230650556 230650556 single base substitution C G missense_variant E1326Q 3976G>C LUSC-US 2 230650556 230650556 single base substitution C G missense_variant E1596Q 4786G>C LUSC-US 2 230650556 230650556 single base substitution C G missense_variant E1644Q 4930G>C LUSC-US 2 230657770 230657770 single base substitution C T downstream_gene_variant LUSC-US 2 230657770 230657770 single base substitution C T exon_variant LUSC-US 2 230657770 230657770 single base substitution C T missense_variant V1009M 3025G>A LUSC-US 2 230657770 230657770 single base substitution C T missense_variant V1279M 3835G>A LUSC-US 2 230657770 230657770 single base substitution C T missense_variant V1327M 3979G>A LUSC-US 2 230659957 230659957 single base substitution G C downstream_gene_variant LUSC-US 2 230659957 230659957 single base substitution G C exon_variant LUSC-US 2 230659957 230659957 single base substitution G C missense_variant S1227R 3681C>G LUSC-US 2 230659957 230659957 single base substitution G C missense_variant S1275R 3825C>G LUSC-US 2 230659957 230659957 single base substitution G C missense_variant S957R 2871C>G LUSC-US 2 230659957 230659957 single base substitution G C upstream_gene_variant LUSC-US 2 230678586 230678586 single base substitution C G intron_variant LUSC-US 2 230678586 230678586 single base substitution C G missense_variant Q317H 951G>C LUSC-US 2 230678586 230678586 single base substitution C G missense_variant Q614H 1842G>C LUSC-US 2 230678586 230678586 single base substitution C G missense_variant Q662H 1986G>C LUSC-US 2 230678586 230678586 single base substitution C G splice_region_variant LUSC-US 2 230678590 230678590 single base substitution T C exon_variant LUSC-US 2 230678590 230678590 single base substitution T C intron_variant LUSC-US 2 230678590 230678590 single base substitution T C missense_variant H316R 947A>G LUSC-US 2 230678590 230678590 single base substitution T C missense_variant H613R 1838A>G LUSC-US 2 230678590 230678590 single base substitution T C missense_variant H661R 1982A>G LUSC-US 2 230678991 230678991 single base substitution C A exon_variant LUSC-US 2 230678991 230678991 single base substitution C A intron_variant LUSC-US 2 230678991 230678991 single base substitution C A missense_variant L249F 747G>T LUSC-US 2 230678991 230678991 single base substitution C A missense_variant L546F 1638G>T LUSC-US 2 230678991 230678991 single base substitution C A missense_variant L594F 1782G>T LUSC-US 2 230724207 230724207 single base substitution C T exon_variant LUSC-US 2 230724207 230724207 single base substitution C T intron_variant LUSC-US 2 230724207 230724207 single base substitution C T missense_variant G103E 308G>A LUSC-US 2 230724207 230724207 single base substitution C T missense_variant G61E 182G>A LUSC-US 2 230724207 230724207 single base substitution C T upstream_gene_variant MALY-DE 2 230628388 230628388 single base substitution A G downstream_gene_variant MALY-DE 2 230631522 230631522 single base substitution T A 3_prime_UTR_variant MALY-DE 2 230631522 230631522 single base substitution T A downstream_gene_variant MALY-DE 2 230632352 230632352 single base substitution G A downstream_gene_variant MALY-DE 2 230632352 230632352 single base substitution G A missense_variant P1696L 5087C>T MALY-DE 2 230632352 230632352 single base substitution G A missense_variant P1966L 5897C>T MALY-DE 2 230632352 230632352 single base substitution G A missense_variant P2014L 6041C>T MALY-DE 2 230656476 230656476 single base substitution G A downstream_gene_variant MALY-DE 2 230656476 230656476 single base substitution G A intron_variant MALY-DE 2 230660093 230660093 single base substitution C G downstream_gene_variant MALY-DE 2 230660093 230660093 single base substitution C G intron_variant MALY-DE 2 230660093 230660093 single base substitution C G upstream_gene_variant MALY-DE 2 230663187 230663187 single base substitution A G downstream_gene_variant MALY-DE 2 230663187 230663187 single base substitution A G intron_variant MALY-DE 2 230663187 230663187 single base substitution A G upstream_gene_variant MALY-DE 2 230663278 230663278 single base substitution A T downstream_gene_variant MALY-DE 2 230663278 230663278 single base substitution A T intron_variant MALY-DE 2 230663278 230663278 single base substitution A T upstream_gene_variant MALY-DE 2 230666619 230666619 insertion of <=200bp - A downstream_gene_variant MALY-DE 2 230666619 230666619 insertion of <=200bp - A intron_variant MALY-DE 2 230677951 230677951 single base substitution G C intron_variant MALY-DE 2 230684634 230684634 single base substitution G C intron_variant MALY-DE 2 230685020 230685020 single base substitution T G intron_variant MALY-DE 2 230685809 230685809 single base substitution G T intron_variant MALY-DE 2 230688623 230688623 deletion of <=200bp A - intron_variant MALY-DE 2 230710249 230710249 single base substitution G C intron_variant MALY-DE 2 230716362 230716362 single base substitution A C intron_variant MALY-DE 2 230720004 230720004 single base substitution A C downstream_gene_variant MALY-DE 2 230720004 230720004 single base substitution A C intron_variant MALY-DE 2 230724385 230724387 deletion of <=200bp CTA - intron_variant MALY-DE 2 230724385 230724387 deletion of <=200bp CTA - upstream_gene_variant MALY-DE 2 230724824 230724824 insertion of <=200bp - A intron_variant MALY-DE 2 230724824 230724824 insertion of <=200bp - A upstream_gene_variant MALY-DE 2 230727756 230727756 single base substitution C A intron_variant MALY-DE 2 230727756 230727756 single base substitution C A upstream_gene_variant MALY-DE 2 230736615 230736615 single base substitution G A intron_variant MALY-DE 2 230736838 230736838 single base substitution A G intron_variant MALY-DE 2 230738766 230738766 single base substitution A T intron_variant MALY-DE 2 230754795 230754795 single base substitution T C intron_variant MALY-DE 2 230756145 230756145 single base substitution A T intron_variant MALY-DE 2 230769994 230769994 single base substitution A G intron_variant MALY-DE 2 230785604 230785604 single base substitution T C intron_variant MALY-DE 2 230787247 230787247 single base substitution G A intron_variant MALY-DE 2 230787247 230787247 single base substitution G A upstream_gene_variant MALY-DE 2 230791601 230791601 single base substitution A C upstream_gene_variant MELA-AU 2 230623661 230623661 single base substitution G A downstream_gene_variant MELA-AU 2 230623877 230623877 single base substitution G A downstream_gene_variant MELA-AU 2 230624029 230624029 single base substitution G A downstream_gene_variant MELA-AU 2 230624238 230624238 single base substitution C T downstream_gene_variant MELA-AU 2 230624547 230624547 single base substitution G A downstream_gene_variant MELA-AU 2 230625245 230625245 single base substitution G A downstream_gene_variant MELA-AU 2 230625545 230625545 single base substitution G A downstream_gene_variant MELA-AU 2 230625577 230625577 single base substitution G A downstream_gene_variant MELA-AU 2 230625681 230625681 single base substitution A T downstream_gene_variant MELA-AU 2 230625891 230625891 single base substitution A G downstream_gene_variant MELA-AU 2 230626309 230626309 single base substitution G C downstream_gene_variant MELA-AU 2 230629061 230629061 single base substitution C T 3_prime_UTR_variant MELA-AU 2 230629061 230629061 single base substitution C T downstream_gene_variant MELA-AU 2 230629146 230629146 single base substitution T C 3_prime_UTR_variant MELA-AU 2 230629146 230629146 single base substitution T C downstream_gene_variant MELA-AU 2 230629255 230629255 single base substitution C T 3_prime_UTR_variant MELA-AU 2 230629255 230629255 single base substitution C T downstream_gene_variant MELA-AU 2 230629480 230629480 single base substitution G A 3_prime_UTR_variant MELA-AU 2 230629480 230629480 single base substitution G A downstream_gene_variant MELA-AU 2 230629637 230629637 single base substitution G A 3_prime_UTR_variant MELA-AU 2 230629637 230629637 single base substitution G A downstream_gene_variant MELA-AU 2 230629646 230629646 single base substitution C T 3_prime_UTR_variant MELA-AU 2 230629646 230629646 single base substitution C T downstream_gene_variant MELA-AU 2 230629766 230629766 single base substitution G A 3_prime_UTR_variant MELA-AU 2 230629766 230629766 single base substitution G A downstream_gene_variant MELA-AU 2 230630050 230630050 single base substitution G A 3_prime_UTR_variant MELA-AU 2 230630050 230630050 single base substitution G A downstream_gene_variant MELA-AU 2 230630753 230630753 single base substitution G A 3_prime_UTR_variant MELA-AU 2 230630753 230630753 single base substitution G A downstream_gene_variant MELA-AU 2 230630790 230630790 single base substitution G A 3_prime_UTR_variant MELA-AU 2 230630790 230630790 single base substitution G A downstream_gene_variant MELA-AU 2 230631415 230631415 single base substitution T G 3_prime_UTR_variant MELA-AU 2 230631415 230631415 single base substitution T G downstream_gene_variant MELA-AU 2 230632271 230632271 single base substitution C T downstream_gene_variant MELA-AU 2 230632271 230632271 single base substitution C T stop_retained_variant *1723* 5168G>A MELA-AU 2 230632271 230632271 single base substitution C T stop_retained_variant *1993* 5978G>A MELA-AU 2 230632271 230632271 single base substitution C T stop_retained_variant *2041* 6122G>A MELA-AU 2 230632793 230632793 single base substitution G A downstream_gene_variant MELA-AU 2 230632793 230632793 single base substitution G A intron_variant MELA-AU 2 230634266 230634266 single base substitution G A downstream_gene_variant MELA-AU 2 230634266 230634266 single base substitution G A intron_variant MELA-AU 2 230635977 230635977 single base substitution G A downstream_gene_variant MELA-AU 2 230635977 230635977 single base substitution G A intron_variant MELA-AU 2 230636011 230636011 single base substitution C T downstream_gene_variant MELA-AU 2 230636011 230636011 single base substitution C T intron_variant MELA-AU 2 230636027 230636027 single base substitution G A downstream_gene_variant MELA-AU 2 230636027 230636027 single base substitution G A intron_variant MELA-AU 2 230636051 230636051 single base substitution G A downstream_gene_variant MELA-AU 2 230636051 230636051 single base substitution G A intron_variant MELA-AU 2 230636390 230636390 single base substitution A G downstream_gene_variant MELA-AU 2 230636390 230636390 single base substitution A G intron_variant MELA-AU 2 230636793 230636793 single base substitution A G downstream_gene_variant MELA-AU 2 230636793 230636793 single base substitution A G intron_variant MELA-AU 2 230637654 230637654 single base substitution G A downstream_gene_variant MELA-AU 2 230637654 230637654 single base substitution G A intron_variant MELA-AU 2 230638688 230638688 single base substitution C T exon_variant MELA-AU 2 230638688 230638688 single base substitution C T intron_variant MELA-AU 2 230639657 230639657 single base substitution G A intron_variant MELA-AU 2 230640102 230640102 single base substitution T A intron_variant MELA-AU 2 230640555 230640556 multiple base substitution (>=2bp and <=200bp) CA AT intron_variant MELA-AU 2 230641678 230641678 insertion of <=200bp - T intron_variant MELA-AU 2 230641819 230641819 single base substitution T C intron_variant MELA-AU 2 230642580 230642580 single base substitution C T intron_variant MELA-AU 2 230642915 230642916 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 230643397 230643397 single base substitution C A intron_variant MELA-AU 2 230643397 230643397 single base substitution C A upstream_gene_variant MELA-AU 2 230643477 230643477 single base substitution G A intron_variant MELA-AU 2 230643477 230643477 single base substitution G A upstream_gene_variant MELA-AU 2 230643759 230643759 single base substitution T C intron_variant MELA-AU 2 230643759 230643759 single base substitution T C upstream_gene_variant MELA-AU 2 230643785 230643785 single base substitution C G intron_variant MELA-AU 2 230643785 230643785 single base substitution C G upstream_gene_variant MELA-AU 2 230644519 230644519 single base substitution G A intron_variant MELA-AU 2 230644519 230644519 single base substitution G A upstream_gene_variant MELA-AU 2 230645457 230645457 single base substitution C T intron_variant MELA-AU 2 230645457 230645457 single base substitution C T upstream_gene_variant MELA-AU 2 230646360 230646360 single base substitution G A intron_variant MELA-AU 2 230646360 230646360 single base substitution G A upstream_gene_variant MELA-AU 2 230646866 230646866 single base substitution C G intron_variant MELA-AU 2 230646866 230646866 single base substitution C G upstream_gene_variant MELA-AU 2 230647918 230647918 single base substitution C T intron_variant MELA-AU 2 230647918 230647918 single base substitution C T upstream_gene_variant MELA-AU 2 230647919 230647919 single base substitution A G intron_variant MELA-AU 2 230647919 230647919 single base substitution A G upstream_gene_variant MELA-AU 2 230647954 230647954 single base substitution G A intron_variant MELA-AU 2 230647954 230647954 single base substitution G A upstream_gene_variant MELA-AU 2 230648068 230648068 single base substitution G A intron_variant MELA-AU 2 230648068 230648068 single base substitution G A upstream_gene_variant MELA-AU 2 230648164 230648164 single base substitution G A intron_variant MELA-AU 2 230648164 230648164 single base substitution G A upstream_gene_variant MELA-AU 2 230648578 230648578 single base substitution G A intron_variant MELA-AU 2 230648802 230648802 single base substitution G A intron_variant MELA-AU 2 230649671 230649671 single base substitution T C intron_variant MELA-AU 2 230650671 230650671 single base substitution C T intron_variant MELA-AU 2 230651101 230651101 single base substitution G A intron_variant MELA-AU 2 230651119 230651119 single base substitution T G intron_variant MELA-AU 2 230651256 230651256 single base substitution G A intron_variant MELA-AU 2 230651438 230651438 single base substitution G A intron_variant MELA-AU 2 230652364 230652364 single base substitution G A downstream_gene_variant MELA-AU 2 230652364 230652364 single base substitution G A missense_variant P1273S 3817C>T MELA-AU 2 230652364 230652364 single base substitution G A missense_variant P1543S 4627C>T MELA-AU 2 230652364 230652364 single base substitution G A missense_variant P1591S 4771C>T MELA-AU 2 230652871 230652871 single base substitution G A downstream_gene_variant MELA-AU 2 230652871 230652871 single base substitution G A intron_variant MELA-AU 2 230652993 230652993 single base substitution G A downstream_gene_variant MELA-AU 2 230652993 230652993 single base substitution G A intron_variant MELA-AU 2 230653987 230653987 single base substitution G A downstream_gene_variant MELA-AU 2 230653987 230653987 single base substitution G A intron_variant MELA-AU 2 230655204 230655204 single base substitution G A downstream_gene_variant MELA-AU 2 230655204 230655204 single base substitution G A intron_variant MELA-AU 2 230655607 230655607 single base substitution G A downstream_gene_variant MELA-AU 2 230655607 230655607 single base substitution G A intron_variant MELA-AU 2 230655791 230655791 single base substitution G A downstream_gene_variant MELA-AU 2 230655791 230655791 single base substitution G A intron_variant MELA-AU 2 230656566 230656566 single base substitution G A downstream_gene_variant MELA-AU 2 230656566 230656566 single base substitution G A exon_variant MELA-AU 2 230656566 230656566 single base substitution G A intron_variant MELA-AU 2 230658903 230658903 single base substitution G A downstream_gene_variant MELA-AU 2 230658903 230658903 single base substitution G A intron_variant MELA-AU 2 230658903 230658903 single base substitution G A upstream_gene_variant MELA-AU 2 230659250 230659250 single base substitution T G downstream_gene_variant MELA-AU 2 230659250 230659250 single base substitution T G intron_variant MELA-AU 2 230659250 230659250 single base substitution T G upstream_gene_variant MELA-AU 2 230659293 230659293 single base substitution A T downstream_gene_variant MELA-AU 2 230659293 230659293 single base substitution A T intron_variant MELA-AU 2 230659293 230659293 single base substitution A T upstream_gene_variant MELA-AU 2 230659727 230659727 single base substitution G A downstream_gene_variant MELA-AU 2 230659727 230659727 single base substitution G A exon_variant MELA-AU 2 230659727 230659727 single base substitution G A intron_variant MELA-AU 2 230659727 230659727 single base substitution G A upstream_gene_variant MELA-AU 2 230659941 230659941 single base substitution G A downstream_gene_variant MELA-AU 2 230659941 230659941 single base substitution G A exon_variant MELA-AU 2 230659941 230659941 single base substitution G A missense_variant P1233S 3697C>T MELA-AU 2 230659941 230659941 single base substitution G A missense_variant P1281S 3841C>T MELA-AU 2 230659941 230659941 single base substitution G A missense_variant P963S 2887C>T MELA-AU 2 230659941 230659941 single base substitution G A upstream_gene_variant MELA-AU 2 230660429 230660429 single base substitution G A downstream_gene_variant MELA-AU 2 230660429 230660429 single base substitution G A intron_variant MELA-AU 2 230660429 230660429 single base substitution G A upstream_gene_variant MELA-AU 2 230660431 230660431 single base substitution A T downstream_gene_variant MELA-AU 2 230660431 230660431 single base substitution A T intron_variant MELA-AU 2 230660431 230660431 single base substitution A T upstream_gene_variant MELA-AU 2 230661071 230661071 single base substitution G A downstream_gene_variant MELA-AU 2 230661071 230661071 single base substitution G A intron_variant MELA-AU 2 230661071 230661071 single base substitution G A upstream_gene_variant MELA-AU 2 230661213 230661213 single base substitution C A downstream_gene_variant MELA-AU 2 230661213 230661213 single base substitution C A intron_variant MELA-AU 2 230661213 230661213 single base substitution C A upstream_gene_variant MELA-AU 2 230661226 230661226 single base substitution G A downstream_gene_variant MELA-AU 2 230661226 230661226 single base substitution G A intron_variant MELA-AU 2 230661226 230661226 single base substitution G A upstream_gene_variant MELA-AU 2 230661871 230661871 single base substitution T A intron_variant MELA-AU 2 230661871 230661871 single base substitution T A upstream_gene_variant MELA-AU 2 230662073 230662073 single base substitution G A downstream_gene_variant MELA-AU 2 230662073 230662073 single base substitution G A intron_variant MELA-AU 2 230662073 230662073 single base substitution G A upstream_gene_variant MELA-AU 2 230662184 230662184 single base substitution G A downstream_gene_variant MELA-AU 2 230662184 230662184 single base substitution G A intron_variant MELA-AU 2 230662184 230662184 single base substitution G A upstream_gene_variant MELA-AU 2 230662245 230662245 single base substitution G A downstream_gene_variant MELA-AU 2 230662245 230662245 single base substitution G A intron_variant MELA-AU 2 230662245 230662245 single base substitution G A upstream_gene_variant MELA-AU 2 230663327 230663327 single base substitution G A downstream_gene_variant MELA-AU 2 230663327 230663327 single base substitution G A intron_variant MELA-AU 2 230663327 230663327 single base substitution G A upstream_gene_variant MELA-AU 2 230664535 230664535 single base substitution G A downstream_gene_variant MELA-AU 2 230664535 230664535 single base substitution G A intron_variant MELA-AU 2 230664535 230664535 single base substitution G A upstream_gene_variant MELA-AU 2 230665168 230665168 single base substitution G A downstream_gene_variant MELA-AU 2 230665168 230665168 single base substitution G A intron_variant MELA-AU 2 230665168 230665168 single base substitution G A upstream_gene_variant MELA-AU 2 230665208 230665208 single base substitution C A downstream_gene_variant MELA-AU 2 230665208 230665208 single base substitution C A intron_variant MELA-AU 2 230665208 230665208 single base substitution C A upstream_gene_variant MELA-AU 2 230665400 230665400 single base substitution A T downstream_gene_variant MELA-AU 2 230665400 230665400 single base substitution A T intron_variant MELA-AU 2 230665400 230665400 single base substitution A T upstream_gene_variant MELA-AU 2 230665544 230665544 single base substitution C T downstream_gene_variant MELA-AU 2 230665544 230665544 single base substitution C T intron_variant MELA-AU 2 230665544 230665544 single base substitution C T upstream_gene_variant MELA-AU 2 230665655 230665655 single base substitution G A downstream_gene_variant MELA-AU 2 230665655 230665655 single base substitution G A intron_variant MELA-AU 2 230665655 230665655 single base substitution G A upstream_gene_variant MELA-AU 2 230665906 230665906 single base substitution A G downstream_gene_variant MELA-AU 2 230665906 230665906 single base substitution A G intron_variant MELA-AU 2 230665906 230665906 single base substitution A G upstream_gene_variant MELA-AU 2 230666065 230666065 single base substitution A C downstream_gene_variant MELA-AU 2 230666065 230666065 single base substitution A C intron_variant MELA-AU 2 230666065 230666065 single base substitution A C upstream_gene_variant MELA-AU 2 230666148 230666148 single base substitution T A downstream_gene_variant MELA-AU 2 230666148 230666148 single base substitution T A intron_variant MELA-AU 2 230666148 230666148 single base substitution T A upstream_gene_variant MELA-AU 2 230666173 230666173 single base substitution T A downstream_gene_variant MELA-AU 2 230666173 230666173 single base substitution T A intron_variant MELA-AU 2 230666173 230666173 single base substitution T A upstream_gene_variant MELA-AU 2 230666223 230666223 single base substitution A C downstream_gene_variant MELA-AU 2 230666223 230666223 single base substitution A C intron_variant MELA-AU 2 230666223 230666223 single base substitution A C upstream_gene_variant MELA-AU 2 230666477 230666477 single base substitution A T downstream_gene_variant MELA-AU 2 230666477 230666477 single base substitution A T intron_variant MELA-AU 2 230666827 230666827 single base substitution C A downstream_gene_variant MELA-AU 2 230666827 230666827 single base substitution C A intron_variant MELA-AU 2 230667091 230667091 single base substitution G A downstream_gene_variant MELA-AU 2 230667091 230667091 single base substitution G A exon_variant MELA-AU 2 230667091 230667091 single base substitution G A intron_variant MELA-AU 2 230667091 230667091 single base substitution G A missense_variant S1001F 3002C>T MELA-AU 2 230667091 230667091 single base substitution G A missense_variant S683F 2048C>T MELA-AU 2 230667091 230667091 single base substitution G A missense_variant S953F 2858C>T MELA-AU 2 230667320 230667320 single base substitution G A downstream_gene_variant MELA-AU 2 230667320 230667320 single base substitution G A intron_variant MELA-AU 2 230667540 230667540 single base substitution G A downstream_gene_variant MELA-AU 2 230667540 230667540 single base substitution G A intron_variant MELA-AU 2 230669029 230669029 single base substitution T A downstream_gene_variant MELA-AU 2 230669029 230669029 single base substitution T A intron_variant MELA-AU 2 230670236 230670236 single base substitution C T downstream_gene_variant MELA-AU 2 230670236 230670236 single base substitution C T intron_variant MELA-AU 2 230672278 230672278 single base substitution C G downstream_gene_variant MELA-AU 2 230672278 230672278 single base substitution C G exon_variant MELA-AU 2 230672278 230672278 single base substitution C G intron_variant MELA-AU 2 230672278 230672278 single base substitution C G upstream_gene_variant MELA-AU 2 230672514 230672514 single base substitution A C downstream_gene_variant MELA-AU 2 230672514 230672514 single base substitution A C exon_variant MELA-AU 2 230672514 230672514 single base substitution A C intron_variant MELA-AU 2 230672514 230672514 single base substitution A C missense_variant N457K 1371T>G MELA-AU 2 230672514 230672514 single base substitution A C missense_variant N754K 2262T>G MELA-AU 2 230672514 230672514 single base substitution A C missense_variant N802K 2406T>G MELA-AU 2 230672514 230672514 single base substitution A C upstream_gene_variant MELA-AU 2 230673166 230673166 single base substitution G A downstream_gene_variant MELA-AU 2 230673166 230673166 single base substitution G A intron_variant MELA-AU 2 230673166 230673166 single base substitution G A upstream_gene_variant MELA-AU 2 230674105 230674105 single base substitution A G downstream_gene_variant MELA-AU 2 230674105 230674105 single base substitution A G intron_variant MELA-AU 2 230674105 230674105 single base substitution A G upstream_gene_variant MELA-AU 2 230674589 230674589 single base substitution G A downstream_gene_variant MELA-AU 2 230674589 230674589 single base substitution G A intron_variant MELA-AU 2 230674589 230674589 single base substitution G A upstream_gene_variant MELA-AU 2 230674629 230674629 single base substitution G A downstream_gene_variant MELA-AU 2 230674629 230674629 single base substitution G A intron_variant MELA-AU 2 230674629 230674629 single base substitution G A upstream_gene_variant MELA-AU 2 230675726 230675726 single base substitution A C exon_variant MELA-AU 2 230675726 230675726 single base substitution A C intron_variant MELA-AU 2 230675726 230675726 single base substitution A C synonymous_variant L352L 1056T>G MELA-AU 2 230675726 230675726 single base substitution A C synonymous_variant L649L 1947T>G MELA-AU 2 230675726 230675726 single base substitution A C synonymous_variant L697L 2091T>G MELA-AU 2 230675726 230675726 single base substitution A C upstream_gene_variant MELA-AU 2 230675852 230675852 single base substitution C T intron_variant MELA-AU 2 230675852 230675852 single base substitution C T splice_region_variant MELA-AU 2 230675852 230675852 single base substitution C T upstream_gene_variant MELA-AU 2 230676250 230676250 single base substitution C T intron_variant MELA-AU 2 230676587 230676587 single base substitution C T intron_variant MELA-AU 2 230676979 230676979 single base substitution T C intron_variant MELA-AU 2 230677131 230677131 single base substitution G A intron_variant MELA-AU 2 230677313 230677313 single base substitution G A intron_variant MELA-AU 2 230677383 230677383 single base substitution G A intron_variant MELA-AU 2 230677629 230677629 single base substitution G A intron_variant MELA-AU 2 230678599 230678599 single base substitution C T exon_variant MELA-AU 2 230678599 230678599 single base substitution C T intron_variant MELA-AU 2 230678599 230678599 single base substitution C T missense_variant R313K 938G>A MELA-AU 2 230678599 230678599 single base substitution C T missense_variant R610K 1829G>A MELA-AU 2 230678599 230678599 single base substitution C T missense_variant R658K 1973G>A MELA-AU 2 230679266 230679266 single base substitution T A intron_variant MELA-AU 2 230679266 230679266 single base substitution T A upstream_gene_variant MELA-AU 2 230679276 230679276 single base substitution C T intron_variant MELA-AU 2 230679276 230679276 single base substitution C T upstream_gene_variant MELA-AU 2 230679955 230679955 single base substitution T A intron_variant MELA-AU 2 230679955 230679955 single base substitution T A upstream_gene_variant MELA-AU 2 230680112 230680112 single base substitution G A intron_variant MELA-AU 2 230680112 230680112 single base substitution G A upstream_gene_variant MELA-AU 2 230680379 230680379 single base substitution A G intron_variant MELA-AU 2 230680379 230680379 single base substitution A G upstream_gene_variant MELA-AU 2 230680756 230680756 single base substitution G T intron_variant MELA-AU 2 230680756 230680756 single base substitution G T upstream_gene_variant MELA-AU 2 230682100 230682100 single base substitution T C intron_variant MELA-AU 2 230682100 230682100 single base substitution T C upstream_gene_variant MELA-AU 2 230682562 230682562 single base substitution C T intron_variant MELA-AU 2 230682562 230682562 single base substitution C T upstream_gene_variant MELA-AU 2 230683088 230683088 single base substitution G A exon_variant MELA-AU 2 230683088 230683088 single base substitution G A intron_variant MELA-AU 2 230683088 230683088 single base substitution G A missense_variant P186S 556C>T MELA-AU 2 230683088 230683088 single base substitution G A missense_variant P483S 1447C>T MELA-AU 2 230683088 230683088 single base substitution G A missense_variant P531S 1591C>T MELA-AU 2 230683088 230683088 single base substitution G A upstream_gene_variant MELA-AU 2 230683108 230683108 single base substitution A C exon_variant MELA-AU 2 230683108 230683108 single base substitution A C intron_variant MELA-AU 2 230683108 230683108 single base substitution A C missense_variant F179C 536T>G MELA-AU 2 230683108 230683108 single base substitution A C missense_variant F476C 1427T>G MELA-AU 2 230683108 230683108 single base substitution A C missense_variant F524C 1571T>G MELA-AU 2 230683108 230683108 single base substitution A C upstream_gene_variant MELA-AU 2 230683566 230683566 single base substitution A G intron_variant MELA-AU 2 230683566 230683566 single base substitution A G upstream_gene_variant MELA-AU 2 230683688 230683688 single base substitution G A intron_variant MELA-AU 2 230683688 230683688 single base substitution G A upstream_gene_variant MELA-AU 2 230684753 230684753 single base substitution T A intron_variant MELA-AU 2 230685141 230685141 single base substitution G A intron_variant MELA-AU 2 230685945 230685945 single base substitution C T intron_variant MELA-AU 2 230686432 230686432 single base substitution C T intron_variant MELA-AU 2 230686782 230686782 single base substitution G A intron_variant MELA-AU 2 230687020 230687020 single base substitution A G intron_variant MELA-AU 2 230687453 230687453 single base substitution A T intron_variant MELA-AU 2 230687838 230687838 single base substitution G A intron_variant MELA-AU 2 230688207 230688207 single base substitution G A intron_variant MELA-AU 2 230688324 230688324 single base substitution G A intron_variant MELA-AU 2 230689032 230689032 single base substitution A G intron_variant MELA-AU 2 230689299 230689299 single base substitution G A intron_variant MELA-AU 2 230689553 230689553 single base substitution G A intron_variant MELA-AU 2 230689828 230689828 single base substitution A C intron_variant MELA-AU 2 230690170 230690170 single base substitution C A intron_variant MELA-AU 2 230690479 230690479 single base substitution A C intron_variant MELA-AU 2 230691182 230691182 single base substitution A T downstream_gene_variant MELA-AU 2 230691182 230691182 single base substitution A T intron_variant MELA-AU 2 230692175 230692175 single base substitution G A downstream_gene_variant MELA-AU 2 230692175 230692175 single base substitution G A intron_variant MELA-AU 2 230692901 230692901 single base substitution T G downstream_gene_variant MELA-AU 2 230692901 230692901 single base substitution T G intron_variant MELA-AU 2 230693345 230693345 single base substitution G A downstream_gene_variant MELA-AU 2 230693345 230693345 single base substitution G A intron_variant MELA-AU 2 230693802 230693802 single base substitution G A downstream_gene_variant MELA-AU 2 230693802 230693802 single base substitution G A intron_variant MELA-AU 2 230694343 230694343 single base substitution G A downstream_gene_variant MELA-AU 2 230694343 230694343 single base substitution G A intron_variant MELA-AU 2 230695288 230695288 single base substitution G A downstream_gene_variant MELA-AU 2 230695288 230695288 single base substitution G A intron_variant MELA-AU 2 230695346 230695346 single base substitution T G downstream_gene_variant MELA-AU 2 230695346 230695346 single base substitution T G intron_variant MELA-AU 2 230696011 230696011 single base substitution G A intron_variant MELA-AU 2 230696253 230696253 single base substitution G A intron_variant MELA-AU 2 230696344 230696344 single base substitution C T intron_variant MELA-AU 2 230696410 230696410 single base substitution G A intron_variant MELA-AU 2 230696888 230696888 single base substitution C A downstream_gene_variant MELA-AU 2 230696888 230696888 single base substitution C A intron_variant MELA-AU 2 230697796 230697796 single base substitution C T downstream_gene_variant MELA-AU 2 230697796 230697796 single base substitution C T intron_variant MELA-AU 2 230698056 230698056 single base substitution G C downstream_gene_variant MELA-AU 2 230698056 230698056 single base substitution G C intron_variant MELA-AU 2 230698107 230698107 single base substitution G A downstream_gene_variant MELA-AU 2 230698107 230698107 single base substitution G A intron_variant MELA-AU 2 230698744 230698745 multiple base substitution (>=2bp and <=200bp) GG AC downstream_gene_variant MELA-AU 2 230698744 230698745 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 2 230699860 230699860 single base substitution G A downstream_gene_variant MELA-AU 2 230699860 230699860 single base substitution G A intron_variant MELA-AU 2 230699945 230699945 deletion of <=200bp T - downstream_gene_variant MELA-AU 2 230699945 230699945 deletion of <=200bp T - intron_variant MELA-AU 2 230700675 230700675 single base substitution T A downstream_gene_variant MELA-AU 2 230700675 230700675 single base substitution T A intron_variant MELA-AU 2 230700765 230700765 single base substitution A G downstream_gene_variant MELA-AU 2 230700765 230700765 single base substitution A G intron_variant MELA-AU 2 230701498 230701498 single base substitution C A downstream_gene_variant MELA-AU 2 230701498 230701498 single base substitution C A intron_variant MELA-AU 2 230702318 230702318 single base substitution C T intron_variant MELA-AU 2 230702358 230702358 single base substitution G A intron_variant MELA-AU 2 230702497 230702497 single base substitution G A intron_variant MELA-AU 2 230702604 230702604 single base substitution G A intron_variant MELA-AU 2 230702672 230702672 single base substitution G A intron_variant MELA-AU 2 230702938 230702938 single base substitution G A intron_variant MELA-AU 2 230702995 230702995 single base substitution A C intron_variant MELA-AU 2 230703175 230703175 single base substitution C T intron_variant MELA-AU 2 230703699 230703699 single base substitution G A intron_variant MELA-AU 2 230704258 230704258 single base substitution G A intron_variant MELA-AU 2 230704482 230704482 single base substitution A G intron_variant MELA-AU 2 230705313 230705313 single base substitution G A intron_variant MELA-AU 2 230705747 230705747 single base substitution T A intron_variant MELA-AU 2 230706047 230706047 single base substitution T G intron_variant MELA-AU 2 230706383 230706383 single base substitution A G intron_variant MELA-AU 2 230707243 230707243 single base substitution G A intron_variant MELA-AU 2 230707468 230707468 single base substitution A C intron_variant MELA-AU 2 230708202 230708202 single base substitution G A intron_variant MELA-AU 2 230708614 230708614 single base substitution G A intron_variant MELA-AU 2 230709651 230709651 single base substitution G A intron_variant MELA-AU 2 230709775 230709775 single base substitution G A intron_variant MELA-AU 2 230709841 230709841 single base substitution G A intron_variant MELA-AU 2 230710248 230710248 insertion of <=200bp - C intron_variant MELA-AU 2 230710251 230710251 single base substitution G A intron_variant MELA-AU 2 230710438 230710438 single base substitution G A intron_variant MELA-AU 2 230710651 230710651 single base substitution G A intron_variant MELA-AU 2 230710753 230710753 single base substitution G A intron_variant MELA-AU 2 230711435 230711435 single base substitution G A intron_variant MELA-AU 2 230711464 230711464 single base substitution A T intron_variant MELA-AU 2 230711877 230711877 single base substitution G A intron_variant MELA-AU 2 230713876 230713876 single base substitution A T intron_variant MELA-AU 2 230713915 230713915 single base substitution G A intron_variant MELA-AU 2 230713972 230713972 single base substitution G A intron_variant MELA-AU 2 230714096 230714097 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 230714194 230714194 single base substitution G A intron_variant MELA-AU 2 230715666 230715666 single base substitution C T intron_variant MELA-AU 2 230715792 230715792 single base substitution G A intron_variant MELA-AU 2 230715803 230715803 single base substitution G A intron_variant MELA-AU 2 230715858 230715858 single base substitution C T intron_variant MELA-AU 2 230715923 230715923 single base substitution T C intron_variant MELA-AU 2 230716965 230716965 single base substitution G A intron_variant MELA-AU 2 230717371 230717371 single base substitution T C intron_variant MELA-AU 2 230718395 230718395 single base substitution A C intron_variant MELA-AU 2 230720332 230720332 single base substitution A T downstream_gene_variant MELA-AU 2 230720332 230720332 single base substitution A T intron_variant MELA-AU 2 230720932 230720932 single base substitution G A downstream_gene_variant MELA-AU 2 230720932 230720932 single base substitution G A intron_variant MELA-AU 2 230720992 230720992 single base substitution G A downstream_gene_variant MELA-AU 2 230720992 230720992 single base substitution G A intron_variant MELA-AU 2 230721050 230721050 single base substitution G A downstream_gene_variant MELA-AU 2 230721050 230721050 single base substitution G A intron_variant MELA-AU 2 230721410 230721410 single base substitution A C downstream_gene_variant MELA-AU 2 230721410 230721410 single base substitution A C intron_variant MELA-AU 2 230721642 230721642 single base substitution G A downstream_gene_variant MELA-AU 2 230721642 230721642 single base substitution G A intron_variant MELA-AU 2 230721960 230721960 single base substitution C T downstream_gene_variant MELA-AU 2 230721960 230721960 single base substitution C T intron_variant MELA-AU 2 230722164 230722164 single base substitution G A downstream_gene_variant MELA-AU 2 230722164 230722164 single base substitution G A intron_variant MELA-AU 2 230722254 230722254 single base substitution G A downstream_gene_variant MELA-AU 2 230722254 230722254 single base substitution G A intron_variant MELA-AU 2 230722371 230722371 single base substitution G A downstream_gene_variant MELA-AU 2 230722371 230722371 single base substitution G A intron_variant MELA-AU 2 230722502 230722502 single base substitution C T downstream_gene_variant MELA-AU 2 230722502 230722502 single base substitution C T intron_variant MELA-AU 2 230723397 230723397 single base substitution G A downstream_gene_variant MELA-AU 2 230723397 230723397 single base substitution G A intron_variant MELA-AU 2 230723398 230723398 deletion of <=200bp A - downstream_gene_variant MELA-AU 2 230723398 230723398 deletion of <=200bp A - intron_variant MELA-AU 2 230723740 230723740 single base substitution G A downstream_gene_variant MELA-AU 2 230723740 230723740 single base substitution G A exon_variant MELA-AU 2 230723740 230723740 single base substitution G A intron_variant MELA-AU 2 230723740 230723740 single base substitution G A missense_variant P217S 649C>T MELA-AU 2 230723740 230723740 single base substitution G A missense_variant P259S 775C>T MELA-AU 2 230723740 230723740 single base substitution G A missense_variant P87S 259C>T MELA-AU 2 230724305 230724305 single base substitution A T intron_variant MELA-AU 2 230724305 230724305 single base substitution A T upstream_gene_variant MELA-AU 2 230724416 230724416 single base substitution A C intron_variant MELA-AU 2 230724416 230724416 single base substitution A C upstream_gene_variant MELA-AU 2 230725367 230725367 single base substitution C T intron_variant MELA-AU 2 230725367 230725367 single base substitution C T upstream_gene_variant MELA-AU 2 230725796 230725796 single base substitution T G intron_variant MELA-AU 2 230725796 230725796 single base substitution T G upstream_gene_variant MELA-AU 2 230728020 230728020 single base substitution G A intron_variant MELA-AU 2 230728020 230728020 single base substitution G A upstream_gene_variant MELA-AU 2 230728765 230728765 single base substitution T A intron_variant MELA-AU 2 230728765 230728765 single base substitution T A upstream_gene_variant MELA-AU 2 230729167 230729167 single base substitution G A intron_variant MELA-AU 2 230731223 230731223 single base substitution G A intron_variant MELA-AU 2 230731576 230731576 single base substitution G A intron_variant MELA-AU 2 230732150 230732150 single base substitution G A intron_variant MELA-AU 2 230732225 230732225 single base substitution G A intron_variant MELA-AU 2 230733053 230733053 single base substitution G A intron_variant MELA-AU 2 230733073 230733073 single base substitution A G intron_variant MELA-AU 2 230733240 230733240 deletion of <=200bp A - intron_variant MELA-AU 2 230734044 230734044 single base substitution G A intron_variant MELA-AU 2 230734554 230734554 single base substitution A G intron_variant MELA-AU 2 230734776 230734777 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 230735096 230735096 single base substitution G A intron_variant MELA-AU 2 230735224 230735224 single base substitution G A intron_variant MELA-AU 2 230735347 230735347 single base substitution G A intron_variant MELA-AU 2 230736321 230736321 single base substitution G A intron_variant MELA-AU 2 230736483 230736483 single base substitution G A intron_variant MELA-AU 2 230736830 230736830 single base substitution A G intron_variant MELA-AU 2 230738331 230738331 single base substitution G A intron_variant MELA-AU 2 230738891 230738891 single base substitution A G intron_variant MELA-AU 2 230738962 230738962 single base substitution G A intron_variant MELA-AU 2 230739269 230739269 single base substitution G A intron_variant MELA-AU 2 230739477 230739477 single base substitution G A intron_variant MELA-AU 2 230740443 230740445 deletion of <=200bp TAT - intron_variant MELA-AU 2 230740493 230740493 single base substitution G A intron_variant MELA-AU 2 230740549 230740549 single base substitution G A intron_variant MELA-AU 2 230741098 230741099 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 230741106 230741106 single base substitution G A intron_variant MELA-AU 2 230741632 230741632 single base substitution G A intron_variant MELA-AU 2 230742718 230742718 single base substitution A G intron_variant MELA-AU 2 230743300 230743300 single base substitution T C intron_variant MELA-AU 2 230743510 230743510 single base substitution G A intron_variant MELA-AU 2 230744525 230744525 single base substitution G A intron_variant MELA-AU 2 230744851 230744851 single base substitution G A splice_region_variant MELA-AU 2 230744911 230744911 single base substitution G A intron_variant MELA-AU 2 230745230 230745230 single base substitution G A intron_variant MELA-AU 2 230745951 230745951 single base substitution G A intron_variant MELA-AU 2 230747399 230747399 single base substitution A G intron_variant MELA-AU 2 230747880 230747880 single base substitution G A intron_variant MELA-AU 2 230749142 230749142 single base substitution G A intron_variant MELA-AU 2 230750409 230750409 single base substitution A G intron_variant MELA-AU 2 230750462 230750462 single base substitution G A intron_variant MELA-AU 2 230750773 230750773 single base substitution G A intron_variant MELA-AU 2 230751202 230751202 single base substitution G A intron_variant MELA-AU 2 230751777 230751777 single base substitution G A intron_variant MELA-AU 2 230751953 230751953 single base substitution G A intron_variant MELA-AU 2 230752476 230752476 single base substitution G A intron_variant MELA-AU 2 230753101 230753101 single base substitution G A intron_variant MELA-AU 2 230753381 230753381 single base substitution C T intron_variant MELA-AU 2 230753485 230753485 single base substitution C T intron_variant MELA-AU 2 230753825 230753825 single base substitution G A intron_variant MELA-AU 2 230755961 230755961 single base substitution A G intron_variant MELA-AU 2 230755980 230755980 single base substitution A G intron_variant MELA-AU 2 230757228 230757228 single base substitution A T intron_variant MELA-AU 2 230757459 230757459 single base substitution C T intron_variant MELA-AU 2 230757488 230757489 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 230757558 230757558 single base substitution G A intron_variant MELA-AU 2 230757586 230757586 single base substitution A C intron_variant MELA-AU 2 230757992 230757992 single base substitution A T intron_variant MELA-AU 2 230758225 230758225 single base substitution C A intron_variant MELA-AU 2 230758815 230758815 single base substitution G A intron_variant MELA-AU 2 230759749 230759749 single base substitution G A intron_variant MELA-AU 2 230759778 230759778 single base substitution A C intron_variant MELA-AU 2 230760001 230760001 single base substitution G A intron_variant MELA-AU 2 230761153 230761153 single base substitution G A intron_variant MELA-AU 2 230761745 230761745 single base substitution G A intron_variant MELA-AU 2 230762726 230762727 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 230763822 230763822 single base substitution G A intron_variant MELA-AU 2 230763996 230763997 deletion of <=200bp AA - intron_variant MELA-AU 2 230764231 230764231 single base substitution G A intron_variant MELA-AU 2 230765060 230765060 single base substitution C T intron_variant MELA-AU 2 230765262 230765262 deletion of <=200bp A - intron_variant MELA-AU 2 230768422 230768422 single base substitution G A intron_variant MELA-AU 2 230768906 230768906 single base substitution G A intron_variant MELA-AU 2 230769363 230769363 single base substitution G A intron_variant MELA-AU 2 230769847 230769847 single base substitution G T intron_variant MELA-AU 2 230770090 230770090 single base substitution C T intron_variant MELA-AU 2 230771517 230771517 single base substitution G A intron_variant MELA-AU 2 230771792 230771792 single base substitution C T intron_variant MELA-AU 2 230772065 230772065 single base substitution G A intron_variant MELA-AU 2 230772117 230772118 multiple base substitution (>=2bp and <=200bp) GA TC intron_variant MELA-AU 2 230772529 230772529 single base substitution A C intron_variant MELA-AU 2 230773700 230773700 single base substitution G A intron_variant MELA-AU 2 230774198 230774198 single base substitution C T intron_variant MELA-AU 2 230774258 230774258 single base substitution C T intron_variant MELA-AU 2 230774576 230774576 single base substitution A G intron_variant MELA-AU 2 230774919 230774919 single base substitution G A intron_variant MELA-AU 2 230775118 230775118 single base substitution A T intron_variant MELA-AU 2 230775794 230775794 single base substitution G A intron_variant MELA-AU 2 230775871 230775871 single base substitution T C intron_variant MELA-AU 2 230776297 230776297 single base substitution T C intron_variant MELA-AU 2 230777340 230777340 single base substitution T C intron_variant MELA-AU 2 230777825 230777825 single base substitution C T intron_variant MELA-AU 2 230777948 230777948 single base substitution T C intron_variant MELA-AU 2 230778393 230778393 single base substitution A T intron_variant MELA-AU 2 230778841 230778841 single base substitution G A intron_variant MELA-AU 2 230779155 230779155 single base substitution T A intron_variant MELA-AU 2 230779975 230779975 single base substitution A T intron_variant MELA-AU 2 230781887 230781887 single base substitution G A intron_variant MELA-AU 2 230781894 230781894 single base substitution A G intron_variant MELA-AU 2 230782012 230782012 single base substitution G A intron_variant MELA-AU 2 230782084 230782084 single base substitution G A intron_variant MELA-AU 2 230784153 230784153 single base substitution G A intron_variant MELA-AU 2 230785396 230785396 single base substitution C T intron_variant MELA-AU 2 230785457 230785457 single base substitution T C intron_variant MELA-AU 2 230785535 230785535 single base substitution T C intron_variant MELA-AU 2 230785754 230785754 single base substitution C T intron_variant MELA-AU 2 230786838 230786838 single base substitution G A intron_variant MELA-AU 2 230786838 230786838 single base substitution G A upstream_gene_variant MELA-AU 2 230787013 230787013 single base substitution G A intron_variant MELA-AU 2 230787013 230787013 single base substitution G A upstream_gene_variant MELA-AU 2 230787198 230787198 single base substitution G A intron_variant MELA-AU 2 230787198 230787198 single base substitution G A upstream_gene_variant MELA-AU 2 230788537 230788537 single base substitution C T upstream_gene_variant MELA-AU 2 230788717 230788717 single base substitution C T upstream_gene_variant MELA-AU 2 230788891 230788891 single base substitution C T upstream_gene_variant MELA-AU 2 230788975 230788975 single base substitution A T upstream_gene_variant MELA-AU 2 230789018 230789018 single base substitution A G upstream_gene_variant MELA-AU 2 230789444 230789444 single base substitution C T upstream_gene_variant MELA-AU 2 230789838 230789838 single base substitution A C upstream_gene_variant MELA-AU 2 230789907 230789907 single base substitution C T upstream_gene_variant MELA-AU 2 230792397 230792397 single base substitution C T upstream_gene_variant ORCA-IN 2 230625156 230625156 single base substitution G A downstream_gene_variant ORCA-IN 2 230635844 230635844 single base substitution C T downstream_gene_variant ORCA-IN 2 230635844 230635844 single base substitution C T intron_variant ORCA-IN 2 230651965 230651965 single base substitution G A downstream_gene_variant ORCA-IN 2 230651965 230651965 single base substitution G A intron_variant ORCA-IN 2 230670501 230670501 single base substitution C T downstream_gene_variant ORCA-IN 2 230670501 230670501 single base substitution C T exon_variant ORCA-IN 2 230670501 230670501 single base substitution C T intron_variant ORCA-IN 2 230670501 230670501 single base substitution C T synonymous_variant T520T 1560G>A ORCA-IN 2 230670501 230670501 single base substitution C T synonymous_variant T790T 2370G>A ORCA-IN 2 230670501 230670501 single base substitution C T synonymous_variant T838T 2514G>A ORCA-IN 2 230678623 230678624 deletion of <=200bp TC - exon_variant ORCA-IN 2 230678623 230678624 deletion of <=200bp TC - frameshift_variant D305 ORCA-IN 2 230678623 230678624 deletion of <=200bp TC - frameshift_variant D602 ORCA-IN 2 230678623 230678624 deletion of <=200bp TC - frameshift_variant D650 ORCA-IN 2 230678623 230678624 deletion of <=200bp TC - intron_variant ORCA-IN 2 230712756 230712756 single base substitution G A intron_variant ORCA-IN 2 230717483 230717483 single base substitution T C intron_variant ORCA-IN 2 230728723 230728723 single base substitution A T intron_variant ORCA-IN 2 230728723 230728723 single base substitution A T upstream_gene_variant ORCA-IN 2 230734203 230734203 single base substitution C A intron_variant ORCA-IN 2 230764005 230764005 single base substitution T C intron_variant OV-AU 2 230629751 230629751 single base substitution T C 3_prime_UTR_variant OV-AU 2 230629751 230629751 single base substitution T C downstream_gene_variant OV-AU 2 230639221 230639221 single base substitution T C intron_variant OV-AU 2 230644338 230644338 single base substitution A G intron_variant OV-AU 2 230644338 230644338 single base substitution A G upstream_gene_variant OV-AU 2 230656622 230656622 single base substitution G C downstream_gene_variant OV-AU 2 230656622 230656622 single base substitution G C exon_variant OV-AU 2 230656622 230656622 single base substitution G C missense_variant L1114V 3340C>G OV-AU 2 230656622 230656622 single base substitution G C missense_variant L1384V 4150C>G OV-AU 2 230656622 230656622 single base substitution G C missense_variant L1432V 4294C>G OV-AU 2 230674671 230674671 single base substitution T G downstream_gene_variant OV-AU 2 230674671 230674671 single base substitution T G intron_variant OV-AU 2 230674671 230674671 single base substitution T G upstream_gene_variant OV-AU 2 230676250 230676250 single base substitution C T intron_variant OV-AU 2 230679689 230679689 single base substitution C G intron_variant OV-AU 2 230679689 230679689 single base substitution C G upstream_gene_variant OV-AU 2 230679690 230679690 single base substitution T G intron_variant OV-AU 2 230679690 230679690 single base substitution T G upstream_gene_variant OV-AU 2 230693160 230693160 single base substitution C A downstream_gene_variant OV-AU 2 230693160 230693160 single base substitution C A intron_variant OV-AU 2 230699347 230699347 single base substitution G C downstream_gene_variant OV-AU 2 230699347 230699347 single base substitution G C intron_variant OV-AU 2 230699772 230699772 single base substitution G A downstream_gene_variant OV-AU 2 230699772 230699772 single base substitution G A intron_variant OV-AU 2 230700846 230700846 single base substitution T A downstream_gene_variant OV-AU 2 230700846 230700846 single base substitution T A intron_variant OV-AU 2 230708557 230708557 single base substitution T C intron_variant OV-AU 2 230712323 230712323 single base substitution G T intron_variant OV-AU 2 230712599 230712599 single base substitution A C intron_variant OV-AU 2 230714379 230714379 single base substitution G T intron_variant OV-AU 2 230718392 230718392 single base substitution T A intron_variant OV-AU 2 230719746 230719746 single base substitution G A downstream_gene_variant OV-AU 2 230719746 230719746 single base substitution G A intron_variant OV-AU 2 230720338 230720338 single base substitution A G downstream_gene_variant OV-AU 2 230720338 230720338 single base substitution A G intron_variant OV-AU 2 230726882 230726882 single base substitution C T intron_variant OV-AU 2 230726882 230726882 single base substitution C T upstream_gene_variant OV-AU 2 230727937 230727937 single base substitution T A intron_variant OV-AU 2 230727937 230727937 single base substitution T A upstream_gene_variant OV-AU 2 230731008 230731008 single base substitution A C intron_variant OV-AU 2 230732531 230732531 single base substitution A C intron_variant OV-AU 2 230733672 230733672 single base substitution G A intron_variant OV-AU 2 230736025 230736025 single base substitution A T intron_variant OV-AU 2 230745134 230745134 single base substitution C T intron_variant OV-AU 2 230758985 230758985 single base substitution A T intron_variant OV-AU 2 230770525 230770525 single base substitution C T intron_variant OV-AU 2 230776114 230776114 single base substitution T C intron_variant OV-AU 2 230779737 230779737 single base substitution G A intron_variant OV-AU 2 230784343 230784343 single base substitution A G intron_variant OV-AU 2 230785367 230785367 single base substitution T C intron_variant OV-AU 2 230787075 230787075 single base substitution C A intron_variant OV-AU 2 230787075 230787075 single base substitution C A upstream_gene_variant OV-AU 2 230787443 230787443 single base substitution C T intron_variant OV-AU 2 230787443 230787443 single base substitution C T upstream_gene_variant OV-AU 2 230787757 230787757 single base substitution A T intron_variant OV-AU 2 230787757 230787757 single base substitution A T upstream_gene_variant OV-US 2 230650512 230650512 single base substitution G A synonymous_variant G1340G 4020C>T OV-US 2 230650512 230650512 single base substitution G A synonymous_variant G1610G 4830C>T OV-US 2 230650512 230650512 single base substitution G A synonymous_variant G1658G 4974C>T PACA-AU 2 230624512 230624512 single base substitution C T downstream_gene_variant PACA-AU 2 230624683 230624683 single base substitution C T downstream_gene_variant PACA-AU 2 230624714 230624714 single base substitution C A downstream_gene_variant PACA-AU 2 230624727 230624727 single base substitution C T downstream_gene_variant PACA-AU 2 230624970 230624970 single base substitution C T downstream_gene_variant PACA-AU 2 230625138 230625138 single base substitution C A downstream_gene_variant PACA-AU 2 230625158 230625158 single base substitution C T downstream_gene_variant PACA-AU 2 230629401 230629401 single base substitution T C 3_prime_UTR_variant PACA-AU 2 230629401 230629401 single base substitution T C downstream_gene_variant PACA-AU 2 230629824 230629824 single base substitution C T 3_prime_UTR_variant PACA-AU 2 230629824 230629824 single base substitution C T downstream_gene_variant PACA-AU 2 230631564 230631564 single base substitution C G 3_prime_UTR_variant PACA-AU 2 230631564 230631564 single base substitution C G downstream_gene_variant PACA-AU 2 230634184 230634184 single base substitution A T downstream_gene_variant PACA-AU 2 230634184 230634184 single base substitution A T intron_variant PACA-AU 2 230635616 230635616 single base substitution C T downstream_gene_variant PACA-AU 2 230635616 230635616 single base substitution C T intron_variant PACA-AU 2 230636407 230636407 single base substitution A G downstream_gene_variant PACA-AU 2 230636407 230636407 single base substitution A G intron_variant PACA-AU 2 230637425 230637425 single base substitution G A downstream_gene_variant PACA-AU 2 230637425 230637425 single base substitution G A intron_variant PACA-AU 2 230642952 230642952 single base substitution T C intron_variant PACA-AU 2 230644951 230644951 single base substitution G C intron_variant PACA-AU 2 230644951 230644951 single base substitution G C upstream_gene_variant PACA-AU 2 230645217 230645217 single base substitution C G intron_variant PACA-AU 2 230645217 230645217 single base substitution C G upstream_gene_variant PACA-AU 2 230651120 230651120 single base substitution T G intron_variant PACA-AU 2 230656520 230656520 single base substitution C A downstream_gene_variant PACA-AU 2 230656520 230656520 single base substitution C A exon_variant PACA-AU 2 230656520 230656520 single base substitution C A intron_variant PACA-AU 2 230657438 230657438 deletion of <=200bp A - downstream_gene_variant PACA-AU 2 230657438 230657438 deletion of <=200bp A - intron_variant PACA-AU 2 230658402 230658402 single base substitution C T downstream_gene_variant PACA-AU 2 230658402 230658402 single base substitution C T intron_variant PACA-AU 2 230658402 230658402 single base substitution C T upstream_gene_variant PACA-AU 2 230661200 230661200 single base substitution C T downstream_gene_variant PACA-AU 2 230661200 230661200 single base substitution C T intron_variant PACA-AU 2 230661200 230661200 single base substitution C T upstream_gene_variant PACA-AU 2 230662622 230662622 single base substitution G C downstream_gene_variant PACA-AU 2 230662622 230662622 single base substitution G C intron_variant PACA-AU 2 230662622 230662622 single base substitution G C upstream_gene_variant PACA-AU 2 230663960 230663960 single base substitution C T downstream_gene_variant PACA-AU 2 230663960 230663960 single base substitution C T intron_variant PACA-AU 2 230663960 230663960 single base substitution C T upstream_gene_variant PACA-AU 2 230674712 230674712 single base substitution T C downstream_gene_variant PACA-AU 2 230674712 230674712 single base substitution T C intron_variant PACA-AU 2 230674712 230674712 single base substitution T C upstream_gene_variant PACA-AU 2 230679152 230679152 single base substitution T C exon_variant PACA-AU 2 230679152 230679152 single base substitution T C intron_variant PACA-AU 2 230680220 230680258 deletion of <=200bp TGACTCCGACTTGAGTATGCTGCTAGATAACCATCACCT - intron_variant PACA-AU 2 230680220 230680258 deletion of <=200bp TGACTCCGACTTGAGTATGCTGCTAGATAACCATCACCT - upstream_gene_variant PACA-AU 2 230682243 230682243 single base substitution A T intron_variant PACA-AU 2 230682243 230682243 single base substitution A T upstream_gene_variant PACA-AU 2 230686232 230686232 single base substitution C T intron_variant PACA-AU 2 230687135 230687135 single base substitution C G intron_variant PACA-AU 2 230699983 230699983 single base substitution C A downstream_gene_variant PACA-AU 2 230699983 230699983 single base substitution C A intron_variant PACA-AU 2 230701529 230701529 single base substitution G T downstream_gene_variant PACA-AU 2 230701529 230701529 single base substitution G T intron_variant PACA-AU 2 230704991 230704991 deletion of <=200bp A - intron_variant PACA-AU 2 230709498 230709498 single base substitution C T intron_variant PACA-AU 2 230715634 230715634 single base substitution C A intron_variant PACA-AU 2 230717837 230717837 single base substitution T C intron_variant PACA-AU 2 230720338 230720338 single base substitution A G downstream_gene_variant PACA-AU 2 230720338 230720338 single base substitution A G intron_variant PACA-AU 2 230731797 230731797 single base substitution C T intron_variant PACA-AU 2 230736078 230736078 single base substitution T C intron_variant PACA-AU 2 230753036 230753036 single base substitution C T intron_variant PACA-AU 2 230762274 230762274 single base substitution G C intron_variant PACA-AU 2 230763030 230763030 single base substitution T A intron_variant PACA-AU 2 230770866 230770866 single base substitution C T intron_variant PACA-AU 2 230773316 230773316 single base substitution C T intron_variant PACA-AU 2 230774516 230774516 single base substitution G A intron_variant PACA-AU 2 230779920 230779920 single base substitution G A intron_variant PACA-AU 2 230787912 230787912 single base substitution A G 5_prime_UTR_variant PACA-AU 2 230787912 230787912 single base substitution A G upstream_gene_variant PACA-AU 2 230790041 230790041 deletion of <=200bp A - upstream_gene_variant PACA-AU 2 230791164 230791164 single base substitution T A upstream_gene_variant PACA-CA 2 230628954 230628954 single base substitution T C 3_prime_UTR_variant PACA-CA 2 230628954 230628954 single base substitution T C downstream_gene_variant PACA-CA 2 230630526 230630526 deletion of <=200bp T - 3_prime_UTR_variant PACA-CA 2 230630526 230630526 deletion of <=200bp T - downstream_gene_variant PACA-CA 2 230633826 230633826 single base substitution C A downstream_gene_variant PACA-CA 2 230633826 230633826 single base substitution C A intron_variant PACA-CA 2 230634650 230634650 single base substitution C T downstream_gene_variant PACA-CA 2 230634650 230634650 single base substitution C T intron_variant PACA-CA 2 230637583 230637583 single base substitution A G downstream_gene_variant PACA-CA 2 230637583 230637583 single base substitution A G intron_variant PACA-CA 2 230637584 230637584 single base substitution G T downstream_gene_variant PACA-CA 2 230637584 230637584 single base substitution G T intron_variant PACA-CA 2 230639671 230639671 single base substitution A C intron_variant PACA-CA 2 230640016 230640016 single base substitution G T intron_variant PACA-CA 2 230643180 230643180 single base substitution A C exon_variant PACA-CA 2 230643180 230643180 single base substitution A C stop_gained L1* 2T>G PACA-CA 2 230643180 230643180 single base substitution A C stop_gained L1433* 4298T>G PACA-CA 2 230643180 230643180 single base substitution A C stop_gained L1703* 5108T>G PACA-CA 2 230643180 230643180 single base substitution A C stop_gained L1751* 5252T>G PACA-CA 2 230643785 230643785 single base substitution C T intron_variant PACA-CA 2 230643785 230643785 single base substitution C T upstream_gene_variant PACA-CA 2 230646814 230646814 single base substitution C T intron_variant PACA-CA 2 230646814 230646814 single base substitution C T upstream_gene_variant PACA-CA 2 230651669 230651669 single base substitution T A downstream_gene_variant PACA-CA 2 230651669 230651669 single base substitution T A intron_variant PACA-CA 2 230655257 230655257 deletion of <=200bp G - downstream_gene_variant PACA-CA 2 230655257 230655257 deletion of <=200bp G - intron_variant PACA-CA 2 230658036 230658036 single base substitution T A downstream_gene_variant PACA-CA 2 230658036 230658036 single base substitution T A exon_variant PACA-CA 2 230658036 230658036 single base substitution T A intron_variant PACA-CA 2 230658036 230658036 single base substitution T A upstream_gene_variant PACA-CA 2 230663776 230663816 deletion of <=200bp AAAAAAGAACTACAGTTAAGTCATTTTAGTTTAAGTGATGA - downstream_gene_variant PACA-CA 2 230663776 230663816 deletion of <=200bp AAAAAAGAACTACAGTTAAGTCATTTTAGTTTAAGTGATGA - intron_variant PACA-CA 2 230663776 230663816 deletion of <=200bp AAAAAAGAACTACAGTTAAGTCATTTTAGTTTAAGTGATGA - upstream_gene_variant PACA-CA 2 230663986 230663986 single base substitution T C downstream_gene_variant PACA-CA 2 230663986 230663986 single base substitution T C intron_variant PACA-CA 2 230663986 230663986 single base substitution T C upstream_gene_variant PACA-CA 2 230664819 230664819 single base substitution C T downstream_gene_variant PACA-CA 2 230664819 230664819 single base substitution C T intron_variant PACA-CA 2 230664819 230664819 single base substitution C T upstream_gene_variant PACA-CA 2 230665177 230665177 insertion of <=200bp - A downstream_gene_variant PACA-CA 2 230665177 230665177 insertion of <=200bp - A intron_variant PACA-CA 2 230665177 230665177 insertion of <=200bp - A upstream_gene_variant PACA-CA 2 230665309 230665309 deletion of <=200bp A - downstream_gene_variant PACA-CA 2 230665309 230665309 deletion of <=200bp A - intron_variant PACA-CA 2 230665309 230665309 deletion of <=200bp A - upstream_gene_variant PACA-CA 2 230669454 230669454 single base substitution C A downstream_gene_variant PACA-CA 2 230669454 230669454 single base substitution C A intron_variant PACA-CA 2 230670459 230670459 single base substitution G A downstream_gene_variant PACA-CA 2 230670459 230670459 single base substitution G A exon_variant PACA-CA 2 230670459 230670459 single base substitution G A intron_variant PACA-CA 2 230670459 230670459 single base substitution G A synonymous_variant A534A 1602C>T PACA-CA 2 230670459 230670459 single base substitution G A synonymous_variant A804A 2412C>T PACA-CA 2 230670459 230670459 single base substitution G A synonymous_variant A852A 2556C>T PACA-CA 2 230673297 230673297 single base substitution G A downstream_gene_variant PACA-CA 2 230673297 230673297 single base substitution G A intron_variant PACA-CA 2 230673297 230673297 single base substitution G A upstream_gene_variant PACA-CA 2 230675184 230675184 insertion of <=200bp - T downstream_gene_variant PACA-CA 2 230675184 230675184 insertion of <=200bp - T intron_variant PACA-CA 2 230675184 230675184 insertion of <=200bp - T upstream_gene_variant PACA-CA 2 230676900 230676900 single base substitution G A intron_variant PACA-CA 2 230680404 230680404 single base substitution A G intron_variant PACA-CA 2 230680404 230680404 single base substitution A G upstream_gene_variant PACA-CA 2 230685277 230685277 single base substitution A C intron_variant PACA-CA 2 230693503 230693503 single base substitution A T downstream_gene_variant PACA-CA 2 230693503 230693503 single base substitution A T intron_variant PACA-CA 2 230694720 230694720 single base substitution A G downstream_gene_variant PACA-CA 2 230694720 230694720 single base substitution A G intron_variant PACA-CA 2 230698548 230698548 single base substitution C A downstream_gene_variant PACA-CA 2 230698548 230698548 single base substitution C A intron_variant PACA-CA 2 230701709 230701709 single base substitution G C intron_variant PACA-CA 2 230703985 230703985 single base substitution G A intron_variant PACA-CA 2 230704881 230704881 single base substitution G A intron_variant PACA-CA 2 230712900 230712900 single base substitution T A intron_variant PACA-CA 2 230713408 230713408 single base substitution A C intron_variant PACA-CA 2 230719853 230719853 single base substitution C T downstream_gene_variant PACA-CA 2 230719853 230719853 single base substitution C T intron_variant PACA-CA 2 230724483 230724483 single base substitution A C intron_variant PACA-CA 2 230724483 230724483 single base substitution A C upstream_gene_variant PACA-CA 2 230727768 230727768 single base substitution A G intron_variant PACA-CA 2 230727768 230727768 single base substitution A G upstream_gene_variant PACA-CA 2 230729728 230729728 single base substitution A C intron_variant PACA-CA 2 230729944 230729944 single base substitution A T intron_variant PACA-CA 2 230730275 230730275 single base substitution T C intron_variant PACA-CA 2 230732800 230732800 single base substitution G A intron_variant PACA-CA 2 230733094 230733094 deletion of <=200bp T - intron_variant PACA-CA 2 230733302 230733302 single base substitution C T intron_variant PACA-CA 2 230738565 230738565 single base substitution G T intron_variant PACA-CA 2 230741191 230741191 single base substitution G A intron_variant PACA-CA 2 230746626 230746626 single base substitution G A intron_variant PACA-CA 2 230748606 230748606 single base substitution C T intron_variant PACA-CA 2 230751092 230751092 single base substitution G A intron_variant PACA-CA 2 230754051 230754051 single base substitution T C intron_variant PACA-CA 2 230759860 230759860 single base substitution T C intron_variant PACA-CA 2 230761980 230761980 single base substitution A C intron_variant PACA-CA 2 230762271 230762271 single base substitution G A intron_variant PACA-CA 2 230763584 230763584 single base substitution A T intron_variant PACA-CA 2 230764178 230764178 single base substitution C T intron_variant PACA-CA 2 230767663 230767663 single base substitution C T intron_variant PACA-CA 2 230769154 230769154 single base substitution A T intron_variant PACA-CA 2 230772941 230772941 single base substitution C G intron_variant PACA-CA 2 230779523 230779523 single base substitution T A intron_variant PACA-CA 2 230780423 230780423 single base substitution A T intron_variant PACA-CA 2 230781174 230781174 deletion of <=200bp G - intron_variant PACA-CA 2 230782339 230782339 single base substitution C G intron_variant PACA-CA 2 230782524 230782524 single base substitution A G intron_variant PACA-CA 2 230783550 230783550 single base substitution G A intron_variant PACA-CA 2 230783576 230783576 single base substitution G C intron_variant PACA-CA 2 230789294 230789294 single base substitution T A upstream_gene_variant PAEN-AU 2 230688954 230688954 single base substitution A C intron_variant PAEN-AU 2 230727962 230727962 single base substitution G A intron_variant PAEN-AU 2 230727962 230727962 single base substitution G A upstream_gene_variant PAEN-AU 2 230754045 230754045 single base substitution C A intron_variant PAEN-AU 2 230770056 230770056 single base substitution C T intron_variant PAEN-AU 2 230778187 230778187 single base substitution T C intron_variant PAEN-IT 2 230656744 230656744 single base substitution C T downstream_gene_variant PAEN-IT 2 230656744 230656744 single base substitution C T exon_variant PAEN-IT 2 230656744 230656744 single base substitution C T missense_variant R1073K 3218G>A PAEN-IT 2 230656744 230656744 single base substitution C T missense_variant R1343K 4028G>A PAEN-IT 2 230656744 230656744 single base substitution C T missense_variant R1391K 4172G>A PAEN-IT 2 230715084 230715084 single base substitution C T intron_variant PAEN-IT 2 230743613 230743613 single base substitution T A intron_variant PAEN-IT 2 230774512 230774512 single base substitution G A intron_variant PBCA-DE 2 230626990 230626990 single base substitution A G downstream_gene_variant PBCA-DE 2 230636557 230636557 insertion of <=200bp - A downstream_gene_variant PBCA-DE 2 230636557 230636557 insertion of <=200bp - A intron_variant PBCA-DE 2 230637498 230637499 deletion of <=200bp TC - downstream_gene_variant PBCA-DE 2 230637498 230637499 deletion of <=200bp TC - intron_variant PBCA-DE 2 230644408 230644408 single base substitution T C intron_variant PBCA-DE 2 230644408 230644408 single base substitution T C upstream_gene_variant PBCA-DE 2 230644846 230644846 single base substitution T C intron_variant PBCA-DE 2 230644846 230644846 single base substitution T C upstream_gene_variant PBCA-DE 2 230648923 230648933 deletion of <=200bp AGAATAATAAC - intron_variant PBCA-DE 2 230656936 230656940 deletion of <=200bp CCATA - downstream_gene_variant PBCA-DE 2 230656936 230656940 deletion of <=200bp CCATA - frameshift_variant YG1037 PBCA-DE 2 230656936 230656940 deletion of <=200bp CCATA - frameshift_variant YG1307 PBCA-DE 2 230656936 230656940 deletion of <=200bp CCATA - frameshift_variant YG1355 PBCA-DE 2 230656936 230656940 deletion of <=200bp CCATA - splice_region_variant PBCA-DE 2 230673560 230673560 single base substitution T A downstream_gene_variant PBCA-DE 2 230673560 230673560 single base substitution T A intron_variant PBCA-DE 2 230673560 230673560 single base substitution T A upstream_gene_variant PBCA-DE 2 230674022 230674022 single base substitution A T downstream_gene_variant PBCA-DE 2 230674022 230674022 single base substitution A T intron_variant PBCA-DE 2 230674022 230674022 single base substitution A T upstream_gene_variant PBCA-DE 2 230688347 230688347 single base substitution G A intron_variant PBCA-DE 2 230693745 230693745 single base substitution C A downstream_gene_variant PBCA-DE 2 230693745 230693745 single base substitution C A intron_variant PBCA-DE 2 230694884 230694884 insertion of <=200bp - A downstream_gene_variant PBCA-DE 2 230694884 230694884 insertion of <=200bp - A intron_variant PBCA-DE 2 230704343 230704343 single base substitution C T intron_variant PBCA-DE 2 230705067 230705067 single base substitution G A intron_variant PBCA-DE 2 230717073 230717073 single base substitution A T intron_variant PBCA-DE 2 230725031 230725031 single base substitution G A intron_variant PBCA-DE 2 230725031 230725031 single base substitution G A upstream_gene_variant PBCA-DE 2 230728718 230728731 deletion of <=200bp GAAAGAGAGAGAGA - intron_variant PBCA-DE 2 230728718 230728731 deletion of <=200bp GAAAGAGAGAGAGA - upstream_gene_variant PBCA-DE 2 230744739 230744739 single base substitution G A exon_variant PBCA-DE 2 230744739 230744739 single base substitution G A synonymous_variant N19N 57C>T PBCA-DE 2 230770046 230770046 single base substitution T C intron_variant PBCA-DE 2 230778709 230778709 single base substitution C T intron_variant PBCA-DE 2 230782097 230782120 deletion of <=200bp AAAAAAAAAAAAAAAAAAAAAAAA - intron_variant PBCA-DE 2 230788668 230788668 single base substitution G C upstream_gene_variant PRAD-CA 2 230629987 230629987 single base substitution T C 3_prime_UTR_variant PRAD-CA 2 230629987 230629987 single base substitution T C downstream_gene_variant PRAD-CA 2 230646539 230646539 single base substitution T A intron_variant PRAD-CA 2 230646539 230646539 single base substitution T A upstream_gene_variant PRAD-CA 2 230648545 230648545 single base substitution G A intron_variant PRAD-CA 2 230722067 230722067 single base substitution G T downstream_gene_variant PRAD-CA 2 230722067 230722067 single base substitution G T intron_variant PRAD-CA 2 230723485 230723485 single base substitution T G downstream_gene_variant PRAD-CA 2 230723485 230723485 single base substitution T G intron_variant PRAD-CA 2 230723485 230723485 single base substitution T G splice_region_variant PRAD-CA 2 230728769 230728769 single base substitution T A intron_variant PRAD-CA 2 230728769 230728769 single base substitution T A upstream_gene_variant PRAD-CA 2 230731825 230731825 single base substitution G T intron_variant PRAD-CA 2 230748505 230748505 single base substitution T C intron_variant PRAD-CA 2 230771592 230771592 single base substitution A T intron_variant PRAD-UK 2 230632841 230632841 single base substitution T C downstream_gene_variant PRAD-UK 2 230632841 230632841 single base substitution T C intron_variant PRAD-UK 2 230639953 230639953 deletion of <=200bp A - intron_variant PRAD-UK 2 230655314 230655314 single base substitution T C downstream_gene_variant PRAD-UK 2 230655314 230655314 single base substitution T C intron_variant PRAD-UK 2 230673670 230673670 insertion of <=200bp - TGCTC downstream_gene_variant PRAD-UK 2 230673670 230673670 insertion of <=200bp - TGCTC intron_variant PRAD-UK 2 230673670 230673670 insertion of <=200bp - TGCTC upstream_gene_variant PRAD-UK 2 230683200 230683200 single base substitution T C exon_variant PRAD-UK 2 230683200 230683200 single base substitution T C intron_variant PRAD-UK 2 230683200 230683200 single base substitution T C synonymous_variant G148G 444A>G PRAD-UK 2 230683200 230683200 single base substitution T C synonymous_variant G445G 1335A>G PRAD-UK 2 230683200 230683200 single base substitution T C synonymous_variant G493G 1479A>G PRAD-UK 2 230683200 230683200 single base substitution T C upstream_gene_variant PRAD-UK 2 230689542 230689542 single base substitution G A intron_variant PRAD-UK 2 230696084 230696084 single base substitution G A intron_variant PRAD-UK 2 230719980 230719980 single base substitution C G downstream_gene_variant PRAD-UK 2 230719980 230719980 single base substitution C G intron_variant PRAD-UK 2 230720979 230720979 single base substitution G T downstream_gene_variant PRAD-UK 2 230720979 230720979 single base substitution G T intron_variant PRAD-UK 2 230731792 230731792 single base substitution A G intron_variant PRAD-UK 2 230737033 230737033 single base substitution A T intron_variant PRAD-UK 2 230745487 230745487 single base substitution C T intron_variant PRAD-UK 2 230750835 230750835 single base substitution A C intron_variant PRAD-UK 2 230758994 230758994 single base substitution C A intron_variant PRAD-UK 2 230761674 230761675 deletion of <=200bp AA - intron_variant PRAD-UK 2 230763025 230763025 single base substitution G C intron_variant PRAD-UK 2 230782903 230782903 single base substitution G C intron_variant PRAD-US 2 230657838 230657838 single base substitution T C downstream_gene_variant PRAD-US 2 230657838 230657838 single base substitution T C exon_variant PRAD-US 2 230657838 230657838 single base substitution T C missense_variant Q1256R 3767A>G PRAD-US 2 230657838 230657838 single base substitution T C missense_variant Q1304R 3911A>G PRAD-US 2 230657838 230657838 single base substitution T C missense_variant Q986R 2957A>G PRAD-US 2 230657838 230657838 single base substitution T C upstream_gene_variant PRAD-US 2 230725184 230725184 single base substitution A G intron_variant PRAD-US 2 230725184 230725184 single base substitution A G synonymous_variant S54S 162T>C PRAD-US 2 230725184 230725184 single base substitution A G upstream_gene_variant READ-US 2 230632286 230632286 single base substitution G A downstream_gene_variant READ-US 2 230632286 230632286 single base substitution G A missense_variant S1718L 5153C>T READ-US 2 230632286 230632286 single base substitution G A missense_variant S1988L 5963C>T READ-US 2 230632286 230632286 single base substitution G A missense_variant S2036L 6107C>T READ-US 2 230643282 230643282 single base substitution T G exon_variant READ-US 2 230643282 230643282 single base substitution T G missense_variant Y1399S 4196A>C READ-US 2 230643282 230643282 single base substitution T G missense_variant Y1669S 5006A>C READ-US 2 230643282 230643282 single base substitution T G missense_variant Y1717S 5150A>C READ-US 2 230643282 230643282 single base substitution T G upstream_gene_variant READ-US 2 230675656 230675656 single base substitution G A downstream_gene_variant READ-US 2 230675656 230675656 single base substitution G A exon_variant READ-US 2 230675656 230675656 single base substitution G A intron_variant READ-US 2 230675656 230675656 single base substitution G A missense_variant R376C 1126C>T READ-US 2 230675656 230675656 single base substitution G A missense_variant R673C 2017C>T READ-US 2 230675656 230675656 single base substitution G A missense_variant R721C 2161C>T READ-US 2 230675656 230675656 single base substitution G A upstream_gene_variant READ-US 2 230678742 230678742 single base substitution A G exon_variant READ-US 2 230678742 230678742 single base substitution A G intron_variant READ-US 2 230678742 230678742 single base substitution A G synonymous_variant G265G 795T>C READ-US 2 230678742 230678742 single base substitution A G synonymous_variant G562G 1686T>C READ-US 2 230678742 230678742 single base substitution A G synonymous_variant G610G 1830T>C READ-US 2 230723891 230723891 deletion of <=200bp A - downstream_gene_variant READ-US 2 230723891 230723891 deletion of <=200bp A - exon_variant READ-US 2 230723891 230723891 deletion of <=200bp A - frameshift_variant T166 READ-US 2 230723891 230723891 deletion of <=200bp A - frameshift_variant T208 READ-US 2 230723891 230723891 deletion of <=200bp A - frameshift_variant T36 READ-US 2 230723891 230723891 deletion of <=200bp A - intron_variant RECA-EU 2 230624412 230624412 single base substitution T C downstream_gene_variant RECA-EU 2 230631063 230631063 single base substitution G A 3_prime_UTR_variant RECA-EU 2 230631063 230631063 single base substitution G A downstream_gene_variant RECA-EU 2 230634366 230634366 single base substitution G T downstream_gene_variant RECA-EU 2 230634366 230634366 single base substitution G T intron_variant RECA-EU 2 230636241 230636241 single base substitution C T downstream_gene_variant RECA-EU 2 230636241 230636241 single base substitution C T intron_variant RECA-EU 2 230636241 230636241 single base substitution C T synonymous_variant P1589P 4767G>A RECA-EU 2 230636241 230636241 single base substitution C T synonymous_variant P1859P 5577G>A RECA-EU 2 230636241 230636241 single base substitution C T synonymous_variant P1907P 5721G>A RECA-EU 2 230641659 230641659 single base substitution G C intron_variant RECA-EU 2 230641673 230641673 single base substitution C T intron_variant RECA-EU 2 230649854 230649854 single base substitution T C intron_variant RECA-EU 2 230653394 230653394 single base substitution A T downstream_gene_variant RECA-EU 2 230653394 230653394 single base substitution A T intron_variant RECA-EU 2 230669748 230669748 single base substitution A T downstream_gene_variant RECA-EU 2 230669748 230669748 single base substitution A T intron_variant RECA-EU 2 230706263 230706263 single base substitution A G intron_variant RECA-EU 2 230709555 230709555 single base substitution T C intron_variant RECA-EU 2 230711886 230711886 single base substitution T C intron_variant RECA-EU 2 230719130 230719130 single base substitution T C downstream_gene_variant RECA-EU 2 230719130 230719130 single base substitution T C intron_variant RECA-EU 2 230742268 230742268 single base substitution A T intron_variant RECA-EU 2 230744217 230744217 single base substitution C A intron_variant RECA-EU 2 230768451 230768451 single base substitution C T intron_variant RECA-EU 2 230781507 230781507 single base substitution C A intron_variant RECA-EU 2 230790632 230790632 single base substitution C T upstream_gene_variant SKCA-BR 2 230623659 230623659 single base substitution C A downstream_gene_variant SKCA-BR 2 230625302 230625302 single base substitution A T downstream_gene_variant SKCA-BR 2 230625743 230625743 single base substitution G A downstream_gene_variant SKCA-BR 2 230627398 230627398 single base substitution G A downstream_gene_variant SKCA-BR 2 230627880 230627880 single base substitution T C downstream_gene_variant SKCA-BR 2 230636521 230636521 single base substitution A T downstream_gene_variant SKCA-BR 2 230636521 230636521 single base substitution A T intron_variant SKCA-BR 2 230648526 230648526 insertion of <=200bp - TA intron_variant SKCA-BR 2 230652819 230652819 single base substitution A G downstream_gene_variant SKCA-BR 2 230652819 230652819 single base substitution A G intron_variant SKCA-BR 2 230654084 230654084 single base substitution A G downstream_gene_variant SKCA-BR 2 230654084 230654084 single base substitution A G intron_variant SKCA-BR 2 230654117 230654117 single base substitution G A downstream_gene_variant SKCA-BR 2 230654117 230654117 single base substitution G A intron_variant SKCA-BR 2 230655253 230655253 single base substitution G A downstream_gene_variant SKCA-BR 2 230655253 230655253 single base substitution G A intron_variant SKCA-BR 2 230657322 230657322 single base substitution A G downstream_gene_variant SKCA-BR 2 230657322 230657322 single base substitution A G intron_variant SKCA-BR 2 230657667 230657667 single base substitution G A downstream_gene_variant SKCA-BR 2 230657667 230657667 single base substitution G A intron_variant SKCA-BR 2 230658102 230658102 single base substitution G T downstream_gene_variant SKCA-BR 2 230658102 230658102 single base substitution G T intron_variant SKCA-BR 2 230658102 230658102 single base substitution G T upstream_gene_variant SKCA-BR 2 230658429 230658429 single base substitution C G downstream_gene_variant SKCA-BR 2 230658429 230658429 single base substitution C G intron_variant SKCA-BR 2 230658429 230658429 single base substitution C G upstream_gene_variant SKCA-BR 2 230659460 230659460 single base substitution A C downstream_gene_variant SKCA-BR 2 230659460 230659460 single base substitution A C intron_variant SKCA-BR 2 230659460 230659460 single base substitution A C upstream_gene_variant SKCA-BR 2 230678917 230678917 single base substitution G A intron_variant SKCA-BR 2 230682062 230682062 single base substitution T G intron_variant SKCA-BR 2 230682062 230682062 single base substitution T G upstream_gene_variant SKCA-BR 2 230683756 230683756 insertion of <=200bp - CCA intron_variant SKCA-BR 2 230683756 230683756 insertion of <=200bp - CCA upstream_gene_variant SKCA-BR 2 230685414 230685414 single base substitution C T intron_variant SKCA-BR 2 230695264 230695264 single base substitution A C downstream_gene_variant SKCA-BR 2 230695264 230695264 single base substitution A C intron_variant SKCA-BR 2 230706175 230706175 single base substitution G A intron_variant SKCA-BR 2 230710712 230710712 single base substitution G A intron_variant SKCA-BR 2 230713732 230713732 single base substitution G C intron_variant SKCA-BR 2 230720337 230720337 single base substitution A G downstream_gene_variant SKCA-BR 2 230720337 230720337 single base substitution A G intron_variant SKCA-BR 2 230723937 230723937 single base substitution C T downstream_gene_variant SKCA-BR 2 230723937 230723937 single base substitution C T exon_variant SKCA-BR 2 230723937 230723937 single base substitution C T intron_variant SKCA-BR 2 230723937 230723937 single base substitution C T missense_variant R151K 452G>A SKCA-BR 2 230723937 230723937 single base substitution C T missense_variant R193K 578G>A SKCA-BR 2 230723937 230723937 single base substitution C T missense_variant R21K 62G>A SKCA-BR 2 230727340 230727340 single base substitution G A intron_variant SKCA-BR 2 230727340 230727340 single base substitution G A upstream_gene_variant SKCA-BR 2 230728717 230728731 deletion of <=200bp TGAAAGAGAGAGAGA - intron_variant SKCA-BR 2 230728717 230728731 deletion of <=200bp TGAAAGAGAGAGAGA - upstream_gene_variant SKCA-BR 2 230728763 230728763 insertion of <=200bp - AGAGAGAGT intron_variant SKCA-BR 2 230728763 230728763 insertion of <=200bp - AGAGAGAGT upstream_gene_variant SKCA-BR 2 230728769 230728769 single base substitution T A intron_variant SKCA-BR 2 230728769 230728769 single base substitution T A upstream_gene_variant SKCA-BR 2 230730048 230730060 deletion of <=200bp AAAAAAAAAAAAG - intron_variant SKCA-BR 2 230730049 230730064 deletion of <=200bp AAAAAAAAAAAGAAAG - intron_variant SKCA-BR 2 230730057 230730064 deletion of <=200bp AAAGAAAG - intron_variant SKCA-BR 2 230731813 230731813 insertion of <=200bp - GT intron_variant SKCA-BR 2 230738866 230738866 single base substitution G A intron_variant SKCA-BR 2 230738895 230738895 single base substitution G A intron_variant SKCA-BR 2 230741382 230741382 single base substitution T C intron_variant SKCA-BR 2 230741958 230741958 single base substitution T C intron_variant SKCA-BR 2 230742963 230742963 insertion of <=200bp - TGA intron_variant SKCA-BR 2 230743950 230743950 single base substitution G A intron_variant SKCA-BR 2 230744013 230744013 single base substitution A C intron_variant SKCA-BR 2 230748952 230748952 single base substitution C T intron_variant SKCA-BR 2 230751097 230751097 single base substitution G A intron_variant SKCA-BR 2 230751587 230751587 single base substitution T G intron_variant SKCA-BR 2 230751664 230751664 single base substitution T C intron_variant SKCA-BR 2 230762617 230762617 single base substitution A C intron_variant SKCA-BR 2 230764226 230764226 single base substitution G A intron_variant SKCA-BR 2 230766924 230766924 single base substitution A C intron_variant SKCA-BR 2 230767194 230767194 single base substitution G A intron_variant SKCA-BR 2 230767198 230767198 single base substitution T A intron_variant SKCA-BR 2 230767728 230767728 insertion of <=200bp - TTTTT intron_variant SKCA-BR 2 230767733 230767734 deletion of <=200bp TC - intron_variant SKCA-BR 2 230769850 230769850 single base substitution C T intron_variant SKCA-BR 2 230771035 230771035 single base substitution G A intron_variant SKCA-BR 2 230773805 230773805 insertion of <=200bp - CA intron_variant SKCA-BR 2 230774099 230774099 single base substitution A C intron_variant SKCA-BR 2 230786663 230786663 single base substitution A C 5_prime_UTR_variant SKCA-BR 2 230786663 230786663 single base substitution A C exon_variant SKCA-BR 2 230786663 230786663 single base substitution A C intron_variant SKCA-BR 2 230786663 230786663 single base substitution A C upstream_gene_variant SKCA-BR 2 230786689 230786689 single base substitution G C 5_prime_UTR_variant SKCA-BR 2 230786689 230786689 single base substitution G C exon_variant SKCA-BR 2 230786689 230786689 single base substitution G C intron_variant SKCA-BR 2 230786689 230786689 single base substitution G C upstream_gene_variant SKCA-BR 2 230788718 230788718 single base substitution C T upstream_gene_variant SKCA-BR 2 230791663 230791663 single base substitution C T upstream_gene_variant SKCM-US 2 230632389 230632389 single base substitution G A downstream_gene_variant SKCM-US 2 230632389 230632389 single base substitution G A missense_variant P1684S 5050C>T SKCM-US 2 230632389 230632389 single base substitution G A missense_variant P1954S 5860C>T SKCM-US 2 230632389 230632389 single base substitution G A missense_variant P2002S 6004C>T SKCM-US 2 230636271 230636271 single base substitution G A downstream_gene_variant SKCM-US 2 230636271 230636271 single base substitution G A intron_variant SKCM-US 2 230636271 230636271 single base substitution G A synonymous_variant F1579F 4737C>T SKCM-US 2 230636271 230636271 single base substitution G A synonymous_variant F1849F 5547C>T SKCM-US 2 230636271 230636271 single base substitution G A synonymous_variant F1897F 5691C>T SKCM-US 2 230636299 230636299 single base substitution G A downstream_gene_variant SKCM-US 2 230636299 230636299 single base substitution G A intron_variant SKCM-US 2 230636299 230636299 single base substitution G A missense_variant S1570L 4709C>T SKCM-US 2 230636299 230636299 single base substitution G A missense_variant S1840L 5519C>T SKCM-US 2 230636299 230636299 single base substitution G A missense_variant S1888L 5663C>T SKCM-US 2 230643226 230643226 single base substitution C T exon_variant SKCM-US 2 230643226 230643226 single base substitution C T missense_variant A1418T 4252G>A SKCM-US 2 230643226 230643226 single base substitution C T missense_variant A1688T 5062G>A SKCM-US 2 230643226 230643226 single base substitution C T missense_variant A1736T 5206G>A SKCM-US 2 230643226 230643226 single base substitution C T upstream_gene_variant SKCM-US 2 230652368 230652368 single base substitution G A downstream_gene_variant SKCM-US 2 230652368 230652368 single base substitution G A synonymous_variant F1271F 3813C>T SKCM-US 2 230652368 230652368 single base substitution G A synonymous_variant F1541F 4623C>T SKCM-US 2 230652368 230652368 single base substitution G A synonymous_variant F1589F 4767C>T SKCM-US 2 230654432 230654432 single base substitution A T downstream_gene_variant SKCM-US 2 230654432 230654432 single base substitution A T synonymous_variant I1185I 3555T>A SKCM-US 2 230654432 230654432 single base substitution A T synonymous_variant I1455I 4365T>A SKCM-US 2 230654432 230654432 single base substitution A T synonymous_variant I1503I 4509T>A SKCM-US 2 230655878 230655878 single base substitution G A downstream_gene_variant SKCM-US 2 230655878 230655878 single base substitution G A missense_variant S1157F 3470C>T SKCM-US 2 230655878 230655878 single base substitution G A missense_variant S1427F 4280C>T SKCM-US 2 230655878 230655878 single base substitution G A missense_variant S1475F 4424C>T SKCM-US 2 230655911 230655911 single base substitution C T downstream_gene_variant SKCM-US 2 230655911 230655911 single base substitution C T missense_variant R1146K 3437G>A SKCM-US 2 230655911 230655911 single base substitution C T missense_variant R1416K 4247G>A SKCM-US 2 230655911 230655911 single base substitution C T missense_variant R1464K 4391G>A SKCM-US 2 230656937 230656937 single base substitution C A downstream_gene_variant SKCM-US 2 230656937 230656937 single base substitution C A exon_variant SKCM-US 2 230656937 230656937 single base substitution C A stop_gained G1038* 3112G>T SKCM-US 2 230656937 230656937 single base substitution C A stop_gained G1308* 3922G>T SKCM-US 2 230656937 230656937 single base substitution C A stop_gained G1356* 4066G>T SKCM-US 2 230660029 230660029 single base substitution G A downstream_gene_variant SKCM-US 2 230660029 230660029 single base substitution G A exon_variant SKCM-US 2 230660029 230660029 single base substitution G A synonymous_variant P1203P 3609C>T SKCM-US 2 230660029 230660029 single base substitution G A synonymous_variant P1251P 3753C>T SKCM-US 2 230660029 230660029 single base substitution G A synonymous_variant P933P 2799C>T SKCM-US 2 230660029 230660029 single base substitution G A upstream_gene_variant SKCM-US 2 230661346 230661346 single base substitution G A downstream_gene_variant SKCM-US 2 230661346 230661346 single base substitution G A exon_variant SKCM-US 2 230661346 230661346 single base substitution G A synonymous_variant I1184I 3552C>T SKCM-US 2 230661346 230661346 single base substitution G A synonymous_variant I1232I 3696C>T SKCM-US 2 230661346 230661346 single base substitution G A synonymous_variant I914I 2742C>T SKCM-US 2 230661346 230661346 single base substitution G A upstream_gene_variant SKCM-US 2 230663753 230663753 single base substitution G A 3_prime_UTR_variant SKCM-US 2 230663753 230663753 single base substitution G A downstream_gene_variant SKCM-US 2 230663753 230663753 single base substitution G A missense_variant T1032I 3095C>T SKCM-US 2 230663753 230663753 single base substitution G A missense_variant T1080I 3239C>T SKCM-US 2 230663753 230663753 single base substitution G A missense_variant T762I 2285C>T SKCM-US 2 230663753 230663753 single base substitution G A upstream_gene_variant SKCM-US 2 230675852 230675852 single base substitution C T intron_variant SKCM-US 2 230675852 230675852 single base substitution C T splice_region_variant SKCM-US 2 230675852 230675852 single base substitution C T upstream_gene_variant SKCM-US 2 230683171 230683171 single base substitution A G exon_variant SKCM-US 2 230683171 230683171 single base substitution A G intron_variant SKCM-US 2 230683171 230683171 single base substitution A G missense_variant L158P 473T>C SKCM-US 2 230683171 230683171 single base substitution A G missense_variant L455P 1364T>C SKCM-US 2 230683171 230683171 single base substitution A G missense_variant L503P 1508T>C SKCM-US 2 230683171 230683171 single base substitution A G upstream_gene_variant SKCM-US 2 230693983 230693983 single base substitution A C downstream_gene_variant SKCM-US 2 230693983 230693983 single base substitution A C exon_variant SKCM-US 2 230693983 230693983 single base substitution A C intron_variant SKCM-US 2 230693983 230693983 single base substitution A C missense_variant L114R 341T>G SKCM-US 2 230693983 230693983 single base substitution A C missense_variant L411R 1232T>G SKCM-US 2 230693983 230693983 single base substitution A C missense_variant L459R 1376T>G SKCM-US 2 230695492 230695492 single base substitution G A downstream_gene_variant SKCM-US 2 230695492 230695492 single base substitution G A exon_variant SKCM-US 2 230695492 230695492 single base substitution G A intron_variant SKCM-US 2 230695492 230695492 single base substitution G A missense_variant S100F 299C>T SKCM-US 2 230695492 230695492 single base substitution G A missense_variant S397F 1190C>T SKCM-US 2 230695492 230695492 single base substitution G A missense_variant S445F 1334C>T STAD-US 2 230638845 230638845 single base substitution C T exon_variant STAD-US 2 230638845 230638845 single base substitution C T missense_variant V111I 331G>A STAD-US 2 230638845 230638845 single base substitution C T missense_variant V1543I 4627G>A STAD-US 2 230638845 230638845 single base substitution C T missense_variant V1813I 5437G>A STAD-US 2 230638845 230638845 single base substitution C T missense_variant V1861I 5581G>A STAD-US 2 230642151 230642151 single base substitution C T exon_variant STAD-US 2 230642151 230642151 single base substitution C T synonymous_variant R1458R 4374G>A STAD-US 2 230642151 230642151 single base substitution C T synonymous_variant R1728R 5184G>A STAD-US 2 230642151 230642151 single base substitution C T synonymous_variant R1776R 5328G>A STAD-US 2 230642151 230642151 single base substitution C T synonymous_variant R26R 78G>A STAD-US 2 230643195 230643195 single base substitution C T exon_variant STAD-US 2 230643195 230643195 single base substitution C T missense_variant R1428H 4283G>A STAD-US 2 230643195 230643195 single base substitution C T missense_variant R1698H 5093G>A STAD-US 2 230643195 230643195 single base substitution C T missense_variant R1746H 5237G>A STAD-US 2 230643195 230643195 single base substitution C T upstream_gene_variant STAD-US 2 230650558 230650558 single base substitution C T missense_variant R1325Q 3974G>A STAD-US 2 230650558 230650558 single base substitution C T missense_variant R1595Q 4784G>A STAD-US 2 230650558 230650558 single base substitution C T missense_variant R1643Q 4928G>A STAD-US 2 230652221 230652221 deletion of <=200bp T - downstream_gene_variant STAD-US 2 230652221 230652221 deletion of <=200bp T - frameshift_variant K1320 STAD-US 2 230652221 230652221 deletion of <=200bp T - frameshift_variant K1590 STAD-US 2 230652221 230652221 deletion of <=200bp T - frameshift_variant K1638 STAD-US 2 230652352 230652352 single base substitution G A downstream_gene_variant STAD-US 2 230652352 230652352 single base substitution G A missense_variant R1277W 3829C>T STAD-US 2 230652352 230652352 single base substitution G A missense_variant R1547W 4639C>T STAD-US 2 230652352 230652352 single base substitution G A missense_variant R1595W 4783C>T STAD-US 2 230654380 230654380 single base substitution G T downstream_gene_variant STAD-US 2 230654380 230654380 single base substitution G T missense_variant L1203I 3607C>A STAD-US 2 230654380 230654380 single base substitution G T missense_variant L1473I 4417C>A STAD-US 2 230654380 230654380 single base substitution G T missense_variant L1521I 4561C>A STAD-US 2 230655844 230655844 single base substitution C T downstream_gene_variant STAD-US 2 230655844 230655844 single base substitution C T stop_gained W1168* 3504G>A STAD-US 2 230655844 230655844 single base substitution C T stop_gained W1438* 4314G>A STAD-US 2 230655844 230655844 single base substitution C T stop_gained W1486* 4458G>A STAD-US 2 230655860 230655860 deletion of <=200bp T - downstream_gene_variant STAD-US 2 230655860 230655860 deletion of <=200bp T - frameshift_variant K1163 STAD-US 2 230655860 230655860 deletion of <=200bp T - frameshift_variant K1433 STAD-US 2 230655860 230655860 deletion of <=200bp T - frameshift_variant K1481 STAD-US 2 230659897 230659897 single base substitution G A downstream_gene_variant STAD-US 2 230659897 230659897 single base substitution G A exon_variant STAD-US 2 230659897 230659897 single base substitution G A splice_region_variant STAD-US 2 230659897 230659897 single base substitution G A upstream_gene_variant STAD-US 2 230664071 230664071 single base substitution G A downstream_gene_variant STAD-US 2 230664071 230664071 single base substitution G A intron_variant STAD-US 2 230664071 230664071 single base substitution G A stop_gained R1004* 3010C>T STAD-US 2 230664071 230664071 single base substitution G A stop_gained R1052* 3154C>T STAD-US 2 230664071 230664071 single base substitution G A stop_gained R734* 2200C>T STAD-US 2 230664071 230664071 single base substitution G A upstream_gene_variant STAD-US 2 230667172 230667172 single base substitution A G downstream_gene_variant STAD-US 2 230667172 230667172 single base substitution A G exon_variant STAD-US 2 230667172 230667172 single base substitution A G intron_variant STAD-US 2 230667172 230667172 single base substitution A G missense_variant V656A 1967T>C STAD-US 2 230667172 230667172 single base substitution A G missense_variant V926A 2777T>C STAD-US 2 230667172 230667172 single base substitution A G missense_variant V974A 2921T>C STAD-US 2 230668408 230668408 deletion of <=200bp A - downstream_gene_variant STAD-US 2 230668408 230668408 deletion of <=200bp A - intron_variant STAD-US 2 230668408 230668408 deletion of <=200bp A - splice_region_variant STAD-US 2 230670450 230670450 single base substitution G A downstream_gene_variant STAD-US 2 230670450 230670450 single base substitution G A exon_variant STAD-US 2 230670450 230670450 single base substitution G A intron_variant STAD-US 2 230670450 230670450 single base substitution G A synonymous_variant N537N 1611C>T STAD-US 2 230670450 230670450 single base substitution G A synonymous_variant N807N 2421C>T STAD-US 2 230670450 230670450 single base substitution G A synonymous_variant N855N 2565C>T STAD-US 2 230672480 230672480 single base substitution G A downstream_gene_variant STAD-US 2 230672480 230672480 single base substitution G A exon_variant STAD-US 2 230672480 230672480 single base substitution G A intron_variant STAD-US 2 230672480 230672480 single base substitution G A missense_variant R469C 1405C>T STAD-US 2 230672480 230672480 single base substitution G A missense_variant R766C 2296C>T STAD-US 2 230672480 230672480 single base substitution G A missense_variant R814C 2440C>T STAD-US 2 230672480 230672480 single base substitution G A upstream_gene_variant STAD-US 2 230672494 230672494 single base substitution G A downstream_gene_variant STAD-US 2 230672494 230672494 single base substitution G A exon_variant STAD-US 2 230672494 230672494 single base substitution G A intron_variant STAD-US 2 230672494 230672494 single base substitution G A missense_variant A464V 1391C>T STAD-US 2 230672494 230672494 single base substitution G A missense_variant A761V 2282C>T STAD-US 2 230672494 230672494 single base substitution G A missense_variant A809V 2426C>T STAD-US 2 230672494 230672494 single base substitution G A upstream_gene_variant STAD-US 2 230672544 230672544 deletion of <=200bp A - downstream_gene_variant STAD-US 2 230672544 230672544 deletion of <=200bp A - exon_variant STAD-US 2 230672544 230672544 deletion of <=200bp A - frameshift_variant F447 STAD-US 2 230672544 230672544 deletion of <=200bp A - frameshift_variant F744 STAD-US 2 230672544 230672544 deletion of <=200bp A - frameshift_variant F792 STAD-US 2 230672544 230672544 deletion of <=200bp A - intron_variant STAD-US 2 230672544 230672544 deletion of <=200bp A - upstream_gene_variant STAD-US 2 230673018 230673018 single base substitution A T downstream_gene_variant STAD-US 2 230673018 230673018 single base substitution A T exon_variant STAD-US 2 230673018 230673018 single base substitution A T intron_variant STAD-US 2 230673018 230673018 single base substitution A T missense_variant D418E 1254T>A STAD-US 2 230673018 230673018 single base substitution A T missense_variant D715E 2145T>A STAD-US 2 230673018 230673018 single base substitution A T missense_variant D763E 2289T>A STAD-US 2 230673018 230673018 single base substitution A T upstream_gene_variant STAD-US 2 230683187 230683187 single base substitution C T exon_variant STAD-US 2 230683187 230683187 single base substitution C T intron_variant STAD-US 2 230683187 230683187 single base substitution C T missense_variant D153N 457G>A STAD-US 2 230683187 230683187 single base substitution C T missense_variant D450N 1348G>A STAD-US 2 230683187 230683187 single base substitution C T missense_variant D498N 1492G>A STAD-US 2 230683187 230683187 single base substitution C T upstream_gene_variant STAD-US 2 230723553 230723553 single base substitution A G downstream_gene_variant STAD-US 2 230723553 230723553 single base substitution A G exon_variant STAD-US 2 230723553 230723553 single base substitution A G intron_variant STAD-US 2 230723553 230723553 single base substitution A G missense_variant L279P 836T>C STAD-US 2 230723553 230723553 single base substitution A G missense_variant L321P 962T>C STAD-US 2 230723553 230723553 single base substitution A G splice_region_variant STAD-US 2 230723776 230723776 single base substitution A G downstream_gene_variant STAD-US 2 230723776 230723776 single base substitution A G exon_variant STAD-US 2 230723776 230723776 single base substitution A G intron_variant STAD-US 2 230723776 230723776 single base substitution A G missense_variant S205P 613T>C STAD-US 2 230723776 230723776 single base substitution A G missense_variant S247P 739T>C STAD-US 2 230723776 230723776 single base substitution A G missense_variant S75P 223T>C STAD-US 2 230723955 230723955 single base substitution C T downstream_gene_variant STAD-US 2 230723955 230723955 single base substitution C T exon_variant STAD-US 2 230723955 230723955 single base substitution C T intron_variant STAD-US 2 230723955 230723955 single base substitution C T missense_variant R145Q 434G>A STAD-US 2 230723955 230723955 single base substitution C T missense_variant R15Q 44G>A STAD-US 2 230723955 230723955 single base substitution C T missense_variant R187Q 560G>A STAD-US 2 230724116 230724116 insertion of <=200bp - T exon_variant STAD-US 2 230724116 230724116 insertion of <=200bp - T frameshift_variant K133K? STAD-US 2 230724116 230724116 insertion of <=200bp - T frameshift_variant K91K? STAD-US 2 230724116 230724116 insertion of <=200bp - T intron_variant STAD-US 2 230724116 230724116 insertion of <=200bp - T upstream_gene_variant THCA-US 2 230664036 230664036 single base substitution G T downstream_gene_variant THCA-US 2 230664036 230664036 single base substitution G T missense_variant L342I 1024C>A THCA-US 2 230664036 230664036 single base substitution G T stop_gained Y1015* 3045C>A THCA-US 2 230664036 230664036 single base substitution G T stop_gained Y1063* 3189C>A THCA-US 2 230664036 230664036 single base substitution G T stop_gained Y745* 2235C>A THCA-US 2 230664036 230664036 single base substitution G T upstream_gene_variant UCEC-US 2 230632326 230632326 single base substitution G A downstream_gene_variant UCEC-US 2 230632326 230632326 single base substitution G A missense_variant R1705C 5113C>T UCEC-US 2 230632326 230632326 single base substitution G A missense_variant R1975C 5923C>T UCEC-US 2 230632326 230632326 single base substitution G A missense_variant R2023C 6067C>T UCEC-US 2 230632389 230632389 single base substitution G A downstream_gene_variant UCEC-US 2 230632389 230632389 single base substitution G A missense_variant P1684S 5050C>T UCEC-US 2 230632389 230632389 single base substitution G A missense_variant P1954S 5860C>T UCEC-US 2 230632389 230632389 single base substitution G A missense_variant P2002S 6004C>T UCEC-US 2 230632422 230632422 single base substitution A G downstream_gene_variant UCEC-US 2 230632422 230632422 single base substitution A G missense_variant F1673L 5017T>C UCEC-US 2 230632422 230632422 single base substitution A G missense_variant F1943L 5827T>C UCEC-US 2 230632422 230632422 single base substitution A G missense_variant F1991L 5971T>C UCEC-US 2 230632424 230632424 single base substitution G A downstream_gene_variant UCEC-US 2 230632424 230632424 single base substitution G A missense_variant T1672M 5015C>T UCEC-US 2 230632424 230632424 single base substitution G A missense_variant T1942M 5825C>T UCEC-US 2 230632424 230632424 single base substitution G A missense_variant T1990M 5969C>T UCEC-US 2 230633360 230633360 single base substitution C T downstream_gene_variant UCEC-US 2 230633360 230633360 single base substitution C T synonymous_variant V1648V 4944G>A UCEC-US 2 230633360 230633360 single base substitution C T synonymous_variant V178V 534G>A UCEC-US 2 230633360 230633360 single base substitution C T synonymous_variant V1918V 5754G>A UCEC-US 2 230633360 230633360 single base substitution C T synonymous_variant V1966V 5898G>A UCEC-US 2 230636299 230636299 single base substitution G A downstream_gene_variant UCEC-US 2 230636299 230636299 single base substitution G A intron_variant UCEC-US 2 230636299 230636299 single base substitution G A missense_variant S1570L 4709C>T UCEC-US 2 230636299 230636299 single base substitution G A missense_variant S1840L 5519C>T UCEC-US 2 230636299 230636299 single base substitution G A missense_variant S1888L 5663C>T UCEC-US 2 230638875 230638875 single base substitution C T exon_variant UCEC-US 2 230638875 230638875 single base substitution C T missense_variant E101K 301G>A UCEC-US 2 230638875 230638875 single base substitution C T missense_variant E1533K 4597G>A UCEC-US 2 230638875 230638875 single base substitution C T missense_variant E1803K 5407G>A UCEC-US 2 230638875 230638875 single base substitution C T missense_variant E1851K 5551G>A UCEC-US 2 230652300 230652300 single base substitution C A downstream_gene_variant UCEC-US 2 230652300 230652300 single base substitution C A missense_variant R1294I 3881G>T UCEC-US 2 230652300 230652300 single base substitution C A missense_variant R1564I 4691G>T UCEC-US 2 230652300 230652300 single base substitution C A missense_variant R1612I 4835G>T UCEC-US 2 230654350 230654350 single base substitution G A downstream_gene_variant UCEC-US 2 230654350 230654350 single base substitution G A stop_gained R1213* 3637C>T UCEC-US 2 230654350 230654350 single base substitution G A stop_gained R1483* 4447C>T UCEC-US 2 230654350 230654350 single base substitution G A stop_gained R1531* 4591C>T UCEC-US 2 230654405 230654405 insertion of <=200bp - ACTGCT downstream_gene_variant UCEC-US 2 230654405 230654405 insertion of <=200bp - ACTGCT inframe_insertion F1194FSS UCEC-US 2 230654405 230654405 insertion of <=200bp - ACTGCT inframe_insertion F1464FSS UCEC-US 2 230654405 230654405 insertion of <=200bp - ACTGCT inframe_insertion F1512FSS UCEC-US 2 230655930 230655930 single base substitution C A downstream_gene_variant UCEC-US 2 230655930 230655930 single base substitution C A missense_variant D1140Y 3418G>T UCEC-US 2 230655930 230655930 single base substitution C A missense_variant D1410Y 4228G>T UCEC-US 2 230655930 230655930 single base substitution C A missense_variant D1458Y 4372G>T UCEC-US 2 230656767 230656767 single base substitution T G downstream_gene_variant UCEC-US 2 230656767 230656767 single base substitution T G exon_variant UCEC-US 2 230656767 230656767 single base substitution T G synonymous_variant L1065L 3195A>C UCEC-US 2 230656767 230656767 single base substitution T G synonymous_variant L1335L 4005A>C UCEC-US 2 230656767 230656767 single base substitution T G synonymous_variant L1383L 4149A>C UCEC-US 2 230657829 230657829 single base substitution T G downstream_gene_variant UCEC-US 2 230657829 230657829 single base substitution T G exon_variant UCEC-US 2 230657829 230657829 single base substitution T G missense_variant K1259T 3776A>C UCEC-US 2 230657829 230657829 single base substitution T G missense_variant K1307T 3920A>C UCEC-US 2 230657829 230657829 single base substitution T G missense_variant K989T 2966A>C UCEC-US 2 230657829 230657829 single base substitution T G upstream_gene_variant UCEC-US 2 230660021 230660021 single base substitution C A downstream_gene_variant UCEC-US 2 230660021 230660021 single base substitution C A exon_variant UCEC-US 2 230660021 230660021 single base substitution C A missense_variant R1206I 3617G>T UCEC-US 2 230660021 230660021 single base substitution C A missense_variant R1254I 3761G>T UCEC-US 2 230660021 230660021 single base substitution C A missense_variant R936I 2807G>T UCEC-US 2 230660021 230660021 single base substitution C A upstream_gene_variant UCEC-US 2 230661330 230661330 single base substitution G T downstream_gene_variant UCEC-US 2 230661330 230661330 single base substitution G T exon_variant UCEC-US 2 230661330 230661330 single base substitution G T missense_variant L1190I 3568C>A UCEC-US 2 230661330 230661330 single base substitution G T missense_variant L1238I 3712C>A UCEC-US 2 230661330 230661330 single base substitution G T missense_variant L920I 2758C>A UCEC-US 2 230661330 230661330 single base substitution G T upstream_gene_variant UCEC-US 2 230662423 230662423 single base substitution C T 3_prime_UTR_variant UCEC-US 2 230662423 230662423 single base substitution C T downstream_gene_variant UCEC-US 2 230662423 230662423 single base substitution C T missense_variant E1128K 3382G>A UCEC-US 2 230662423 230662423 single base substitution C T missense_variant E1176K 3526G>A UCEC-US 2 230662423 230662423 single base substitution C T missense_variant E858K 2572G>A UCEC-US 2 230662423 230662423 single base substitution C T upstream_gene_variant UCEC-US 2 230664097 230664097 single base substitution C T downstream_gene_variant UCEC-US 2 230664097 230664097 single base substitution C T intron_variant UCEC-US 2 230664097 230664097 single base substitution C T missense_variant R1043Q 3128G>A UCEC-US 2 230664097 230664097 single base substitution C T missense_variant R725Q 2174G>A UCEC-US 2 230664097 230664097 single base substitution C T missense_variant R995Q 2984G>A UCEC-US 2 230664097 230664097 single base substitution C T upstream_gene_variant UCEC-US 2 230668714 230668714 single base substitution C T downstream_gene_variant UCEC-US 2 230668714 230668714 single base substitution C T intron_variant UCEC-US 2 230668714 230668714 single base substitution C T splice_donor_variant UCEC-US 2 230673086 230673086 single base substitution C A downstream_gene_variant UCEC-US 2 230673086 230673086 single base substitution C A intron_variant UCEC-US 2 230673086 230673086 single base substitution C A splice_acceptor_variant UCEC-US 2 230673086 230673086 single base substitution C A upstream_gene_variant UCEC-US 2 230675682 230675682 single base substitution C A exon_variant UCEC-US 2 230675682 230675682 single base substitution C A intron_variant UCEC-US 2 230675682 230675682 single base substitution C A missense_variant S367I 1100G>T UCEC-US 2 230675682 230675682 single base substitution C A missense_variant S664I 1991G>T UCEC-US 2 230675682 230675682 single base substitution C A missense_variant S712I 2135G>T UCEC-US 2 230675682 230675682 single base substitution C A upstream_gene_variant UCEC-US 2 230675762 230675762 single base substitution C A intron_variant UCEC-US 2 230675762 230675762 single base substitution C A splice_acceptor_variant UCEC-US 2 230675762 230675762 single base substitution C A upstream_gene_variant UCEC-US 2 230678649 230678649 single base substitution C T exon_variant UCEC-US 2 230678649 230678649 single base substitution C T intron_variant UCEC-US 2 230678649 230678649 single base substitution C T synonymous_variant T296T 888G>A UCEC-US 2 230678649 230678649 single base substitution C T synonymous_variant T593T 1779G>A UCEC-US 2 230678649 230678649 single base substitution C T synonymous_variant T641T 1923G>A UCEC-US 2 230679861 230679861 single base substitution C T exon_variant UCEC-US 2 230679861 230679861 single base substitution C T intron_variant UCEC-US 2 230679861 230679861 single base substitution C T missense_variant R217Q 650G>A UCEC-US 2 230679861 230679861 single base substitution C T missense_variant R514Q 1541G>A UCEC-US 2 230679861 230679861 single base substitution C T missense_variant R562Q 1685G>A UCEC-US 2 230679861 230679861 single base substitution C T upstream_gene_variant UCEC-US 2 230693987 230693987 single base substitution C T downstream_gene_variant UCEC-US 2 230693987 230693987 single base substitution C T exon_variant UCEC-US 2 230693987 230693987 single base substitution C T intron_variant UCEC-US 2 230693987 230693987 single base substitution C T missense_variant G113S 337G>A UCEC-US 2 230693987 230693987 single base substitution C T missense_variant G410S 1228G>A UCEC-US 2 230693987 230693987 single base substitution C T missense_variant G458S 1372G>A UCEC-US 2 230723710 230723710 single base substitution C A downstream_gene_variant UCEC-US 2 230723710 230723710 single base substitution C A exon_variant UCEC-US 2 230723710 230723710 single base substitution C A intron_variant UCEC-US 2 230723710 230723710 single base substitution C A missense_variant D227Y 679G>T UCEC-US 2 230723710 230723710 single base substitution C A missense_variant D269Y 805G>T UCEC-US 2 230723710 230723710 single base substitution C A missense_variant D97Y 289G>T UCEC-US 2 230723928 230723928 single base substitution C T downstream_gene_variant UCEC-US 2 230723928 230723928 single base substitution C T exon_variant UCEC-US 2 230723928 230723928 single base substitution C T intron_variant UCEC-US 2 230723928 230723928 single base substitution C T missense_variant S154N 461G>A UCEC-US 2 230723928 230723928 single base substitution C T missense_variant S196N 587G>A UCEC-US 2 230723928 230723928 single base substitution C T missense_variant S24N 71G>A UCEC-US 2 230724169 230724169 single base substitution G A exon_variant UCEC-US 2 230724169 230724169 single base substitution G A intron_variant UCEC-US 2 230724169 230724169 single base substitution G A missense_variant R116C 346C>T UCEC-US 2 230724169 230724169 single base substitution G A missense_variant R74C 220C>T UCEC-US 2 230724169 230724169 single base substitution G A upstream_gene_variant UCEC-US 2 230724247 230724247 single base substitution C T exon_variant UCEC-US 2 230724247 230724247 single base substitution C T intron_variant UCEC-US 2 230724247 230724247 single base substitution C T missense_variant D48N 142G>A UCEC-US 2 230724247 230724247 single base substitution C T missense_variant D90N 268G>A UCEC-US 2 230724247 230724247 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand BD114T COSM5502629 c.4933G>A p.A1645T Substitution - Missense 2:229778927-229778927 - 16461 COSM5615032 c.3520A>G p.K1174E Substitution - Missense 2:229796662-229796662 - T2940 COSM4736350 c.65G>A p.G22E Substitution - Missense 2:229880015-229880015 - SNU-175 COSM3048013 c.5093G>A p.R1698H Substitution - Missense 2:229778479-229778479 - 1960034 COSM1644154 c.4340C>T p.S1447L Substitution - Missense 2:229789741-229789741 - 003-0005-09TD COSM1317087 c.4984+5T>C p.? Unknown 2:229778871-229778871 - TCGA-B5-A11E-01 COSM1017524 c.5860C>T p.P1954S Substitution - Missense 2:229767673-229767673 - TCGA-AX-A0J0-01 COSM1017530 c.5407G>A p.E1803K Substitution - Missense 2:229774159-229774159 - TCGA-ED-A66Y-01 COSM4926531 c.3898A>T p.R1300* Substitution - Nonsense 2:229792991-229792991 - 1N62-VS-1T62 COSM3364627 c.1957C>T p.Q653* Substitution - Nonsense 2:229811000-229811000 - TCGA-B5-A0JY-01 COSM1017546 c.1779G>A p.T593T Substitution - coding silent 2:229813933-229813933 - B16 COSM1752413 c.266C>G p.A89G Substitution - Missense 2:229859407-229859407 - 2492702 COSM3426169 c.5963C>T p.S1988L Substitution - Missense 2:229767570-229767570 - TCGA-DD-A4NI-01 COSM4926175 c.5811A>T p.T1937T Substitution - coding silent 2:229767722-229767722 - TCGA-AU-6004-01 COSM1406063 c.2639_2640insA p.N880fs*36 Insertion - Frameshift 2:229804013-229804014 - RK225_C01 COSM4944753 c.850A>G p.K284E Substitution - Missense 2:229858823-229858823 - TCGA-AP-A056-01 COSM1017551 c.220C>T p.R74C Substitution - Missense 2:229859453-229859453 - TCGA-EI-6917-01 COSM1733961 c.2017C>T p.R673C Substitution - Missense 2:229810940-229810940 - SS6003305 COSM3414201 c.2141T>A p.I714N Substitution - Missense 2:229808306-229808306 - SNU-175 COSM3048086 c.1419G>T p.L473L Substitution - coding silent 2:229818400-229818400 - LN18 COSM3048079 c.1754C>A p.A585E Substitution - Missense 2:229813958-229813958 - BD242T COSM5495782 c.3464C>G p.S1155* Substitution - Nonsense 2:229796718-229796718 - T3236 COSM3048082 c.1540C>T p.R514* Substitution - Nonsense 2:229815146-229815146 - sysucc-834T COSM5486243 c.3106T>C p.S1036P Substitution - Missense 2:229799026-229799026 - HN_63039 COSM127000 c.3045C>G p.Y1015* Substitution - Nonsense 2:229799320-229799320 - 61 COSM5014287 c.4240G>A p.G1414S Substitution - Missense 2:229791202-229791202 - TCGA-CZ-5459-01 COSM477051 c.233C>T p.P78L Substitution - Missense 2:229859440-229859440 - TCGA-D1-A0ZO-01 COSM1017548 c.1012C>T p.R338* Substitution - Nonsense 2:229836980-229836980 - Gp2D COSM3048070 c.2192T>C p.I731T Substitution - Missense 2:229808255-229808255 - TCGA-06-2558-01 COSM2152598 c.183G>A p.G61G Substitution - coding silent 2:229859490-229859490 - TCGA-18-3419-01 COSM720310 c.5391A>T p.P1797P Substitution - coding silent 2:229774175-229774175 - TCGA-D1-A17L-01 COSM1017533 c.4391_4392insAGCAGT p.F1464>LAV Complex - insertion inframe 2:229789689-229789690 - TCGA-AP-A0LM-01 COSM1017534 c.4228G>T p.D1410Y Substitution - Missense 2:229791214-229791214 - HCC1T COSM1614492 c.2233G>A p.A745T Substitution - Missense 2:229807827-229807827 - CRC-03T COSM5451652 c.121G>A p.V41M Substitution - Missense 2:229859552-229859552 - TCGA-BP-5173-01 COSM477049 c.4806G>T p.A1602A Substitution - coding silent 2:229785820-229785820 - TCGA-AG-3892-01 COSM258245 c.1276C>T p.L426F Substitution - Missense 2:229829223-229829223 - ESO-179 COSM1268617 c.565G>C p.G189R Substitution - Missense 2:229859108-229859108 - PCSI_0082_Pa_X COSM3380075 c.5108T>G p.L1703* Substitution - Nonsense 2:229778464-229778464 - 1_PRE-TREATMENT COSM1720779 c.5337C>T p.T1779T Substitution - coding silent 2:229774229-229774229 - TCGA-06-2563 COSM2152864 c.3134T>G p.L1045W Substitution - Missense 2:229798998-229798998 - ESCC_33 COSM5628297 c.3292C>T p.H1098Y Substitution - Missense 2:229797797-229797797 - PT27 COSM5905507 c.2983C>T p.R995* Substitution - Nonsense 2:229799382-229799382 - TCGA-04-1365-01 COSM115683 c.2454T>A p.D818E Substitution - Missense 2:229804199-229804199 - 1287_T COSM3962499 c.2639A>G p.N880S Substitution - Missense 2:229804014-229804014 - PD11349a COSM5782918 c.1740T>C p.N580N Substitution - coding silent 2:229813972-229813972 - TCGA-D1-A17F-01 COSM1017528 c.5676C>A p.D1892E Substitution - Missense 2:229769233-229769233 - TCGA-AP-A0LM-01 COSM1017543 c.2078-1G>T p.? Unknown 2:229808370-229808370 - CSCC-30-T COSM4481794 c.2544C>T p.S848S Substitution - coding silent 2:229804109-229804109 - TCGA-F4-6703-01 COSM1406066 c.2381G>A p.R794H Substitution - Missense 2:229805774-229805774 - TCGA-EP-A2KC-01 COSM4913800 c.440A>T p.Q147L Substitution - Missense 2:229859233-229859233 - LUAD-RT-S01774 COSM381490 c.3399+1G>T p.? Unknown 2:229797689-229797689 - 93T COSM107134 c.3434G>A p.R1145H Substitution - Missense 2:229796748-229796748 - TCGA-AD-6889-01 COSM1406060 c.3583delT p.S1195fs*24 Deletion - Frameshift 2:229796599-229796599 - S20_post COSM5575050 c.4988G>T p.S1663I Substitution - Missense 2:229778584-229778584 - TCGA-BR-7851-01 COSM4092211 c.3741C>T p.G1247G Substitution - coding silent 2:229795181-229795181 - TCGA-HT-7610-01 COSM3972057 c.2458C>T p.R820* Substitution - Nonsense 2:229804195-229804195 - TCGA-A8-A09M-01 COSM442446 c.4147C>T p.P1383S Substitution - Missense 2:229791909-229791909 - TCGA-24-1422-01 COSM73072 c.3841C>G p.Q1281E Substitution - Missense 2:229793048-229793048 - ESCC_BICR_047T COSM5430392 c.1555G>T p.V519L Substitution - Missense 2:229815131-229815131 - 2492729 COSM5728123 c.2179C>T p.L727L Substitution - coding silent 2:229808268-229808268 - C0021T COSM4164417 c.5577G>A p.P1859P Substitution - coding silent 2:229771525-229771525 - ACINAR19 COSM1733961 c.2017C>T p.R673C Substitution - Missense 2:229810940-229810940 - ESCC_BICR_066T COSM5444640 c.1694A>T p.D565V Substitution - Missense 2:229814018-229814018 - TCGA-BR-4361-01 COSM477050 c.2777T>C p.V926A Substitution - Missense 2:229802456-229802456 - TCGA-G4-6588-01 COSM1406065 c.2408T>C p.L803S Substitution - Missense 2:229805747-229805747 - RK111_C01 COSM3743635 c.757A>G p.K253E Substitution - Missense 2:229858916-229858916 - ME009T COSM222761 c.4205G>A p.R1402K Substitution - Missense 2:229791237-229791237 - J30_T COSM3962497 c.5155G>T p.G1719C Substitution - Missense 2:229777464-229777464 - S02248 COSM5679631 c.968G>T p.S323I Substitution - Missense 2:229840861-229840861 - 40M COSM5586861 c.4416C>T p.I1472I Substitution - coding silent 2:229789665-229789665 - TCGA-60-2698-01 COSM720311 c.5455G>T p.E1819* Substitution - Nonsense 2:229774111-229774111 - HCC137 COSM1614491 c.3551T>G p.I1184S Substitution - Missense 2:229796631-229796631 - 797T COSM4963485 c.4028G>A p.R1343K Substitution - Missense 2:229792028-229792028 - 2492730 COSM5729396 c.4894C>T p.L1632L Substitution - coding silent 2:229778966-229778966 - 2492701 COSM3426169 c.5963C>T p.S1988L Substitution - Missense 2:229767570-229767570 - 585260 COSM326769 c.4075G>T p.V1359L Substitution - Missense 2:229791981-229791981 - TCGA-AP-A0LM-01 COSM1017537 c.3617G>T p.R1206I Substitution - Missense 2:229795305-229795305 - TCGA-C5-A2LX-01 COSM4827388 c.1776C>A p.I592I Substitution - coding silent 2:229813936-229813936 - MMG1 COSM3727031 c.4182T>A p.H1394Q Substitution - Missense 2:229791874-229791874 - PT42 COSM1669831 c.5092C>T p.R1698C Substitution - Missense 2:229778480-229778480 - BN40 COSM1614490 c.3610A>G p.I1204V Substitution - Missense 2:229795312-229795312 - PD13168a COSM5770384 c.1311T>G p.S437S Substitution - coding silent 2:229818508-229818508 - TCGA-EE-A3JD-06 COSM4396191 c.3922G>T p.G1308* Substitution - Nonsense 2:229792221-229792221 - DLD1 COSM3048063 c.2625G>T p.K875N Substitution - Missense 2:229804028-229804028 - TCGA-EI-6917-01 COSM3426171 c.1686T>C p.G562G Substitution - coding silent 2:229814026-229814026 - TCGA-66-2786-01 COSM720304 c.1842G>C p.Q614H Substitution - Missense 2:229813870-229813870 - T3658 COSM1641859 c.1882C>T p.R628C Substitution - Missense 2:229811165-229811165 - T3535 COSM4736341 c.4318+2delT p.? Unknown 2:229791122-229791122 - TCGA-24-2298-01 COSM73073 c.1325T>A p.L442Q Substitution - Missense 2:229818494-229818494 - H1155 COSM1195334 c.2756T>C p.V919A Substitution - Missense 2:229803588-229803588 - T368 COSM3048107 c.273delA p.K91fs*26 Deletion - Frameshift 2:229859400-229859400 - I2L-P19Tb-Tumor-Biopsy COSM5354266 c.968G>A p.S323N Substitution - Missense 2:229840861-229840861 - Au2 COSM3426169 c.5963C>T p.S1988L Substitution - Missense 2:229767570-229767570 - TCGA-AP-A051-01 COSM277814 c.679G>T p.D227Y Substitution - Missense 2:229858994-229858994 - CRC-22T COSM5453118 c.5C>G p.S2C Substitution - Missense 2:229880075-229880075 - ESO-118 COSM1268614 c.1264C>T p.R422W Substitution - Missense 2:229829235-229829235 - CSB7 COSM5025856 c.609delC p.S204fs*6 Deletion - Frameshift 2:229859064-229859064 - TCGA-21-5782-01 COSM720305 c.3681C>G p.S1227R Substitution - Missense 2:229795241-229795241 - CHC1137T COSM4803190 c.389C>A p.T130K Substitution - Missense 2:229859284-229859284 - LOVO COSM3048106 c.273_274insA p.P92fs*8 Insertion - Frameshift 2:229859399-229859400 - TCGA-BS-A0TC-01 COSM1017538 c.3568C>A p.L1190I Substitution - Missense 2:229796614-229796614 - HCC89T COSM1614489 c.4324G>A p.V1442M Substitution - Missense 2:229789757-229789757 - TCGA-34-5929-01 COSM720309 c.5113G>A p.A1705T Substitution - Missense 2:229778459-229778459 - TCGA-F5-6814-01 COSM3426170 c.5006A>C p.Y1669S Substitution - Missense 2:229778566-229778566 - TCGA-EE-A29M-06 COSM3578820 c.3609C>T p.P1203P Substitution - coding silent 2:229795313-229795313 - HCC043T COSM5811997 c.4811C>T p.S1604F Substitution - Missense 2:229785815-229785815 - TCGA-BR-7851-01 COSM4092215 c.2145T>A p.D715E Substitution - Missense 2:229808302-229808302 - CSCC-31-T COSM4571341 c.4356T>G p.V1452V Substitution - coding silent 2:229789725-229789725 - TCGA-BS-A0UF-01 COSM1017539 c.3382G>A p.E1128K Substitution - Missense 2:229797707-229797707 - PD18048a COSM5790521 c.3916G>A p.G1306R Substitution - Missense 2:229792973-229792973 - T3092 COSM4736343 c.4271C>T p.T1424M Substitution - Missense 2:229791171-229791171 - TCGA-G4-6302-01 COSM3695317 c.1613T>C p.V538A Substitution - Missense 2:229814300-229814300 - CHC879T COSM4806103 c.3152G>A p.G1051E Substitution - Missense 2:229798980-229798980 - sysucc-834T COSM5486242 c.5730G>A p.Q1910Q Substitution - coding silent 2:229768668-229768668 - PD13627a COSM5776911 c.2877A>C p.S959S Substitution - coding silent 2:229802356-229802356 - TCGA-AP-A059-01 COSM1017523 c.5923C>T p.R1975C Substitution - Missense 2:229767610-229767610 - TCGA-DK-A3X1-01 COSM3798722 c.441G>T p.Q147H Substitution - Missense 2:229859232-229859232 - AOCS-139-12-5 COSM4128193 c.4150C>G p.L1384V Substitution - Missense 2:229791906-229791906 - TCGA-AP-A051-01 COSM1017544 c.1991G>T p.S664I Substitution - Missense 2:229810966-229810966 - TCGA-FW-A5DY-06 COSM3578825 c.1190C>T p.S397F Substitution - Missense 2:229830776-229830776 - TCGA-34-2608-01 COSM720303 c.1838A>G p.H613R Substitution - Missense 2:229813874-229813874 - HCC6T COSM1614488 c.4614-4A>G p.? Unknown 2:229787665-229787665 - TCGA-BH-A0HP-01 COSM442449 c.1680+1delG p.? Unknown TCGA-DD-A1EL-01 COSM4926003 c.2895C>T p.A965A Substitution - coding silent 2:229802338-229802338 - CCK81 COSM3048105 c.385T>C p.S129P Substitution - Missense 2:229859288-229859288 - TCGA-AA-3492-01 COSM235515 c.5499C>T p.G1833G Substitution - coding silent 2:229771603-229771603 - SWE-2B COSM1178252 c.724C>A p.P242T Substitution - Missense 2:229858949-229858949 - LUAD-B02477 COSM335879 c.75A>G p.P25P Substitution - coding silent 2:229880005-229880005 - TCGA-13-0906-01 COSM78703 c.535G>A p.A179T Substitution - Missense 2:229859138-229859138 - ESO-171 COSM1268616 c.3464C>T p.S1155L Substitution - Missense 2:229796718-229796718 - C086 COSM5540842 c.5016C>T p.N1672N Substitution - coding silent 2:229778556-229778556 - HCT15 COSM1669832 c.4427G>T p.R1476I Substitution - Missense 2:229789654-229789654 - TCGA-AG-4022-01 COSM5071526 c.498delT p.G167fs*43 Deletion - Frameshift 2:229859175-229859175 - OVCAR-3 COSM1669831 c.5092C>T p.R1698C Substitution - Missense 2:229778480-229778480 - TCGA-AP-A059-01 COSM1017527 c.5754G>A p.V1918V Substitution - coding silent 2:229768644-229768644 - HT115 COSM3048090 c.1103C>A p.S368Y Substitution - Missense 2:229836889-229836889 - TCGA-CD-A4MI-01 COSM4092209 c.4417C>A p.L1473I Substitution - Missense 2:229789664-229789664 - 18195 COSM1306517 c.4784G>A p.R1595Q Substitution - Missense 2:229785842-229785842 - 1517_PT COSM5756008 c.5931delA p.K1977fs*3 Deletion - Frameshift 2:229767602-229767602 - HCA7 COSM4630727 c.2305C>T p.R769W Substitution - Missense 2:229807755-229807755 - 112140 COSM95411 c.5368C>G p.L1790V Substitution - Missense 2:229774198-229774198 - 587342 COSM107134 c.3434G>A p.R1145H Substitution - Missense 2:229796748-229796748 - TCGA-DK-A3IS-01 COSM1306518 c.3444C>T p.V1148V Substitution - coding silent 2:229796738-229796738 - TCGA-RP-A693-06 COSM4895254 c.1364T>C p.L455P Substitution - Missense 2:229818455-229818455 - S02360 COSM5696142 c.1286G>C p.R429T Substitution - Missense 2:229829213-229829213 - TCGA-CG-5721-01 COSM3048104 c.434G>A p.R145Q Substitution - Missense 2:229859239-229859239 - C658 COSM4443396 c.5576C>T p.P1859L Substitution - Missense 2:229771526-229771526 - TCGA-34-2596-01 COSM720307 c.4786G>C p.E1596Q Substitution - Missense 2:229785840-229785840 - TCGA-DS-A1OC-01 COSM1293975 c.863C>G p.S288* Substitution - Nonsense 2:229858810-229858810 - CHC2362T COSM4957054 c.5161C>A p.P1721T Substitution - Missense 2:229777458-229777458 - TCGA-CC-5259-01 COSM4928055 c.2174A>T p.Y725F Substitution - Missense 2:229808273-229808273 - Pat_11_A COSM4092212 c.3010C>T p.R1004* Substitution - Nonsense 2:229799355-229799355 - TCGA-EE-A2GU-06 COSM3578824 c.1232T>G p.L411R Substitution - Missense 2:229829267-229829267 - TCGA-GC-A3I6-01 COSM1306519 c.494C>G p.S165* Substitution - Nonsense 2:229859179-229859179 - TCGA-UC-A7PF-01 COSM4829977 c.2775T>C p.G925G Substitution - coding silent 2:229802458-229802458 - TCGA-HT-7694-01 COSM3972059 c.518C>T p.A173V Substitution - Missense 2:229859155-229859155 - 8015109 COSM1158798 c.2903C>A p.A968D Substitution - Missense 2:229802330-229802330 - TCGA-E2-A1B1-01 COSM442445 c.5094C>T p.R1698R Substitution - coding silent 2:229778478-229778478 - TCGA-Q1-A73O-01 COSM4834141 c.5515G>C p.D1839H Substitution - Missense 2:229771587-229771587 - Au4 COSM5605192 c.4627C>T p.P1543S Substitution - Missense 2:229787648-229787648 - pfg060T COSM4764774 c.4564A>G p.I1522V Substitution - Missense 2:229788847-229788847 - TCGA-EI-6882-01 COSM3426169 c.5963C>T p.S1988L Substitution - Missense 2:229767570-229767570 - PT46 COSM4736340 c.4543C>T p.Q1515* Substitution - Nonsense 2:229788868-229788868 - STC291 COSM5058724 c.737G>A p.S246N Substitution - Missense 2:229858936-229858936 - HCC134T COSM5818971 c.1550C>T p.A517V Substitution - Missense 2:229815136-229815136 - ML_41_T_01 COSM5033839 c.452G>A p.R151K Substitution - Missense 2:229859221-229859221 - RK102_C01 COSM3702150 c.2353-10T>C p.? Unknown 2:229805812-229805812 - TCGA-EE-A2ML-06 COSM3578823 c.1911G>A p.E637E Substitution - coding silent 2:229811136-229811136 - TCGA-A6-3808-01 COSM291359 c.4145A>G p.N1382S Substitution - Missense 2:229791911-229791911 - TCGA-D1-A103-01 COSM1017526 c.5825C>T p.T1942M Substitution - Missense 2:229767708-229767708 - TCGA-A5-A0GP-01 COSM1017532 c.4447C>T p.R1483* Substitution - Nonsense 2:229789634-229789634 - S01020 COSM5665114 c.5142G>T p.V1714V Substitution - coding silent 2:229777477-229777477 - HCT-15 COSM1669832 c.4427G>T p.R1476I Substitution - Missense 2:229789654-229789654 - pfg019T COSM1641858 c.4640G>A p.R1547Q Substitution - Missense 2:229787635-229787635 - SC_9008 COSM5551470 c.3333T>C p.D1111D Substitution - coding silent 2:229797756-229797756 - MD-281 COSM303454 c.4779G>A p.V1593V Substitution - coding silent 2:229785847-229785847 - TCGA-66-2757-01 COSM720308 c.4918C>G p.Q1640E Substitution - Missense 2:229778942-229778942 - SWE-53 COSM1180374 c.1369G>C p.A457P Substitution - Missense 2:229818450-229818450 - GC8_T COSM149086 c.2511A>G p.T837T Substitution - coding silent 2:229804142-229804142 - 86575 COSM96253 c.3000A>G p.L1000L Substitution - coding silent 2:229799365-229799365 - ITNET_0797_T COSM4963485 c.4028G>A p.R1343K Substitution - Missense 2:229792028-229792028 - 2521252 COSM5888716 c.3973G>A p.E1325K Substitution - Missense 2:229792170-229792170 - sysucc-1365T COSM5766622 c.4471-10C>A p.? Unknown 2:229788950-229788950 - ME030T COSM226944 c.4367C>T p.P1456L Substitution - Missense 2:229789714-229789714 - TCGA-FS-A4F8-06 COSM3578817 c.4365T>A p.I1455I Substitution - coding silent 2:229789716-229789716 - TCGA-AZ-4315-01 COSM1406056 c.4908G>A p.A1636A Substitution - coding silent 2:229778952-229778952 - LUAD_E00623 COSM354289 c.960G>T p.L320F Substitution - Missense 2:229840869-229840869 - TCGA-AC-A23H-01 COSM3048082 c.1540C>T p.R514* Substitution - Nonsense 2:229815146-229815146 - 3N56-VS-3T56 COSM4983853 c.2517delT p.F839fs*27 Deletion - Frameshift 2:229804136-229804136 - HCT8 COSM1669832 c.4427G>T p.R1476I Substitution - Missense 2:229789654-229789654 - CHEWS035 COSM4583277 c.4497A>G p.P1499P Substitution - coding silent 2:229788914-229788914 - K198 COSM249472 c.511A>T p.R171* Substitution - Nonsense 2:229859162-229859162 - T2269 COSM4736337 c.5818C>T p.R1940* Substitution - Nonsense 2:229767715-229767715 - HCC1 COSM1614492 c.2233G>A p.A745T Substitution - Missense 2:229807827-229807827 - TCGA-FJ-A3Z7-01 COSM3798719 c.4142G>T p.S1381I Substitution - Missense 2:229791914-229791914 - ccRCC-99 COSM1664698 c.2230T>G p.F744V Substitution - Missense 2:229807830-229807830 - TCGA-06-2563 COSM2152861 c.3114A>G p.K1038K Substitution - coding silent 2:229799018-229799018 - TCGA-BR-4184-01 COSM3048069 c.2282C>T p.A761V Substitution - Missense 2:229807778-229807778 - T3225 COSM4736352 c.11G>A p.R4Q Substitution - Missense 2:229880069-229880069 - 78 COSM5015974 c.1193delA p.E398fs*9 Deletion - Frameshift 2:229830773-229830773 - TCGA-EE-A2GM-06 COSM3578822 c.3095C>T p.T1032I Substitution - Missense 2:229799037-229799037 - CSCC-45-T COSM4488844 c.3396C>T p.L1132L Substitution - coding silent 2:229797693-229797693 - TCGA-KR-A7K7-01 COSM4922795 c.2765G>A p.R922K Substitution - Missense 2:229803579-229803579 - TCGA-Q1-A73O-01 COSM4835611 c.5719G>C p.D1907H Substitution - Missense 2:229768679-229768679 - SC_9047 COSM5556340 c.5208C>T p.H1736H Substitution - coding silent 2:229777411-229777411 - DN12045 COSM5770384 c.1311T>G p.S437S Substitution - coding silent 2:229818508-229818508 - T3724 COSM4736340 c.4543C>T p.Q1515* Substitution - Nonsense 2:229788868-229788868 - MDA-Pca-2B COSM238550 c.180delG p.Q62fs*11 Deletion - Frameshift 2:229859493-229859493 - RK041_C01 COSM1631884 c.4117G>A p.E1373K Substitution - Missense 2:229791939-229791939 - HCC6 COSM1614488 c.4614-4A>G p.? Unknown 2:229787665-229787665 - DN1401F COSM5961122 c.3410G>T p.G1137V Substitution - Missense 2:229796772-229796772 - LIM1899 COSM3798719 c.4142G>T p.S1381I Substitution - Missense 2:229791914-229791914 - HCC2157 COSM50485 c.4747G>T p.A1583S Substitution - Missense 2:229787528-229787528 - GHE0605 COSM5714019 c.5484G>A p.W1828* Substitution - Nonsense 2:229771618-229771618 - ICGC_0021 COSM1158798 c.2903C>A p.A968D Substitution - Missense 2:229802330-229802330 - LUAD-D01603 COSM337792 c.3322G>T p.E1108* Substitution - Nonsense 2:229797767-229797767 - TCGA-B5-A0JV-01 COSM1017549 c.483C>T p.S161S Substitution - coding silent 2:229859190-229859190 - TCGA-BR-8078-01 COSM4092210 c.4314G>A p.W1438* Substitution - Nonsense 2:229791128-229791128 - 1N25-VS-1T25 COSM4973394 c.760A>G p.T254A Substitution - Missense 2:229858913-229858913 - TCGA-B5-A0JY-01 COSM1017529 c.5519C>T p.S1840L Substitution - Missense 2:229771583-229771583 - ACINAR06 COSM1733960 c.3616A>G p.R1206G Substitution - Missense 2:229795306-229795306 - 587284 COSM1230457 c.1009C>T p.R337W Substitution - Missense 2:229836983-229836983 - 587238 COSM1230455 c.5033C>T p.A1678V Substitution - Missense 2:229778539-229778539 - TCGA-BR-6852-01 COSM1306517 c.4784G>A p.R1595Q Substitution - Missense 2:229785842-229785842 - PGBM11PT COSM1579981 c.1112C>T p.A371V Substitution - Missense 2:229836880-229836880 - TCGA-DM-A0XD-01 COSM1406068 c.1843-1G>T p.? Unknown 2:229811205-229811205 - BON-1 COSM5368289 c.1087C>T p.Q363* Substitution - Nonsense 2:229836905-229836905 - C658 COSM4443397 c.2552G>T p.G851V Substitution - Missense 2:229804101-229804101 - T3724 COSM3048106 c.273_274insA p.P92fs*8 Insertion - Frameshift 2:229859399-229859400 - Gp5D COSM3048070 c.2192T>C p.I731T Substitution - Missense 2:229808255-229808255 - STC232 COSM5058726 c.578T>C p.I193T Substitution - Missense 2:229859095-229859095 - TCGA-EJ-5527-01 COSM1129286 c.3767A>G p.Q1256R Substitution - Missense 2:229793122-229793122 - Br07X COSM40983 c.522A>G p.K174K Substitution - coding silent 2:229859151-229859151 - CHC892T COSM4797538 c.3545G>A p.R1182K Substitution - Missense 2:229796637-229796637 - TCGA-AA-A010-01 COSM285971 c.3008A>C p.K1003T Substitution - Missense 2:229799357-229799357 - PD18046a COSM210333 c.3562C>T p.R1188* Substitution - Nonsense 2:229796620-229796620 - 2492700 COSM3426169 c.5963C>T p.S1988L Substitution - Missense 2:229767570-229767570 - SWE-24 COSM1179168 c.5759G>T p.G1920V Substitution - Missense 2:229768639-229768639 - TCGA-BR-6802-01 COSM4092214 c.2296C>T p.R766C Substitution - Missense 2:229807764-229807764 - ATL065 COSM5708124 c.5183G>T p.R1728L Substitution - Missense 2:229777436-229777436 - TCGA-AC-A23H-01 COSM3838792 c.682C>A p.Q228K Substitution - Missense 2:229858991-229858991 - TCGA-EE-A29N-06 COSM3578816 c.5062G>A p.A1688T Substitution - Missense 2:229778510-229778510 - CHC976T COSM3668568 c.4321G>A p.G1441R Substitution - Missense 2:229789760-229789760 - TCGA-EE-A2MS-06 COSM3578821 c.3552C>T p.I1184I Substitution - coding silent 2:229796630-229796630 - TCGA-06-2563-01 COSM2152861 c.3114A>G p.K1038K Substitution - coding silent 2:229799018-229799018 - WA53 COSM242056 c.2920G>A p.D974N Substitution - Missense 2:229802313-229802313 - ESO-118 COSM1268613 c.1660A>G p.S554G Substitution - Missense 2:229814253-229814253 - TCGA-AA-A00J-01 COSM298404 c.3294T>C p.H1098H Substitution - coding silent 2:229797795-229797795 - EOPC-04_tumor COSM3716570 c.1265G>A p.R422Q Substitution - Missense 2:229829234-229829234 - Pat_41_B COSM5861960 c.5102G>A p.G1701E Substitution - Missense 2:229778470-229778470 - TCGA-24-1469-01 COSM81839 c.4830C>T p.G1610G Substitution - coding silent 2:229785796-229785796 - LUAD-B02594 COSM336691 c.5637G>T p.L1879L Substitution - coding silent 2:229769272-229769272 - sysucc-311T COSM5465450 c.2498C>A p.S833Y Substitution - Missense 2:229804155-229804155 - T3202 COSM4736344 c.4090C>T p.R1364W Substitution - Missense 2:229791966-229791966 - 003-0005-10TD COSM1317087 c.4984+5T>C p.? Unknown 2:229778871-229778871 - TCGA-AN-A0XU-01 COSM442447 c.1819C>T p.L607L Substitution - coding silent 2:229813893-229813893 - RK030_C01 COSM3702151 c.979A>T p.K327* Substitution - Nonsense 2:229840850-229840850 - TCGA-AZ-4315-01 COSM1406073 c.926G>A p.R309H Substitution - Missense 2:229840903-229840903 - I2L-P7-Tumor-Organoid COSM5354635 c.1056A>G p.R352R Substitution - coding silent 2:229836936-229836936 - SC_9008 COSM1017529 c.5519C>T p.S1840L Substitution - Missense 2:229771583-229771583 - TCGA-DA-A1I7-06 COSM3578818 c.4280C>T p.S1427F Substitution - Missense 2:229791162-229791162 - CHC1137T COSM4803190 c.389C>A p.T130K Substitution - Missense 2:229859284-229859284 - 3844_T COSM3962500 c.2018G>C p.R673P Substitution - Missense 2:229810939-229810939 - C086 COSM5540843 c.2667C>T p.S889S Substitution - coding silent 2:229803677-229803677 - TCGA-AK-3461-01 COSM3364627 c.1957C>T p.Q653* Substitution - Nonsense 2:229811000-229811000 - 13681 COSM5617122 c.27A>T p.P9P Substitution - coding silent 2:229880053-229880053 - CSCC-38-T COSM4560800 c.858G>A p.E286E Substitution - coding silent 2:229858815-229858815 - BD114T COSM5502631 c.2844G>T p.T948T Substitution - coding silent 2:229802389-229802389 - TCGA-G4-6586-01 COSM1406060 c.3583delT p.S1195fs*24 Deletion - Frameshift 2:229796599-229796599 - 76629543 COSM1582520 c.5283A>T p.R1761S Substitution - Missense 2:229777336-229777336 - NPC15F COSM4996214 c.5225A>G p.D1742G Substitution - Missense 2:229777394-229777394 - CHOL53 COSM1744622 c.620C>T p.S207F Substitution - Missense 2:229859053-229859053 - SNUH_G15_S1 COSM3682554 c.4969C>T p.L1657F Substitution - Missense 2:229778891-229778891 - TCGA-FS-A1ZA-06 COSM1017524 c.5860C>T p.P1954S Substitution - Missense 2:229767673-229767673 - TCGA-60-2698-01 COSM720313 c.5456A>T p.E1819V Substitution - Missense 2:229774110-229774110 - TCGA-D9-A6EA-06 COSM4397761 c.4623C>T p.F1541F Substitution - coding silent 2:229787652-229787652 - TCGA-DJ-A2Q1-01 COSM3372671 c.3045C>A p.Y1015* Substitution - Nonsense 2:229799320-229799320 - TCGA-B5-A0JY-01 COSM168561 c.1541G>A p.R514Q Substitution - Missense 2:229815145-229815145 - CHC879T COSM4806103 c.3152G>A p.G1051E Substitution - Missense 2:229798980-229798980 - ESO-838 COSM1268618 c.3809T>G p.L1270* Substitution - Nonsense 2:229793080-229793080 - RK120_C01 COSM3702149 c.5153T>G p.L1718R Substitution - Missense 2:229777466-229777466 - TCGA-AN-A0FK-01 COSM442448 c.1711G>A p.E571K Substitution - Missense 2:229814001-229814001 - TCGA-DK-A3IT-01 COSM1306516 c.5544C>G p.V1848V Substitution - coding silent 2:229771558-229771558 - TCGA-B0-5098-01 COSM1494800 c.4401G>A p.P1467P Substitution - coding silent 2:229789680-229789680 - 2492703 COSM3426169 c.5963C>T p.S1988L Substitution - Missense 2:229767570-229767570 - PTC-14C COSM4133529 c.4665A>C p.A1555A Substitution - coding silent 2:229787610-229787610 - TCGA-22-5491-01 COSM720301 c.182G>A p.G61E Substitution - Missense 2:229859491-229859491 - SWE-2B COSM1178252 c.724C>A p.P242T Substitution - Missense 2:229858949-229858949 - TCGA-AD-6895-01 COSM1406078 c.443A>G p.K148R Substitution - Missense 2:229859230-229859230 - TCGA-AA-3966-01 COSM273383 c.4838G>A p.R1613Q Substitution - Missense 2:229785788-229785788 - 3T COSM3364627 c.1957C>T p.Q653* Substitution - Nonsense 2:229811000-229811000 - TCGA-AS-3778-01 COSM477052 c.146C>A p.P49Q Substitution - Missense 2:229859527-229859527 - 585270 COSM324003 c.832T>C p.S278P Substitution - Missense 2:229858841-229858841 - PDA_058 COSM5001017 c.2461G>T p.A821S Substitution - Missense 2:229804192-229804192 - SC_9096 COSM5547351 c.1536delT p.P513fs*7 Deletion - Frameshift 2:229815150-229815150 - PT13 COSM5895624 c.5162C>T p.P1721L Substitution - Missense 2:229777457-229777457 - ME011T COSM224220 c.5735G>A p.R1912K Substitution - Missense 2:229768663-229768663 - ESO-152 COSM1268615 c.4591C>T p.L1531F Substitution - Missense 2:229788820-229788820 - TCGA-CG-5734-01 COSM4092213 c.2421C>T p.N807N Substitution - coding silent 2:229805734-229805734 - CSCC-49-T COSM4545347 c.3761G>A p.G1254E Substitution - Missense 2:229793128-229793128 - ccRCC-7 COSM1664699 c.26C>A p.P9Q Substitution - Missense 2:229880054-229880054 - TCGA-CG-5726-01 COSM4092207 c.5184G>A p.R1728R Substitution - coding silent 2:229777435-229777435 - TCGA-AA-A00N-01 COSM277814 c.679G>T p.D227Y Substitution - Missense 2:229858994-229858994 - TCGA-AA-3672-01 COSM267640 c.3792T>C p.H1264H Substitution - coding silent 2:229793097-229793097 - CSCC-56-T COSM4495972 c.464C>T p.S155F Substitution - Missense 2:229859209-229859209 - HN_62996 COSM129918 c.1774A>G p.I592V Substitution - Missense 2:229813938-229813938 - 587284 COSM1230456 c.2332A>G p.I778V Substitution - Missense 2:229807728-229807728 - TCGA-BS-A0UV-01 COSM1017529 c.5519C>T p.S1840L Substitution - Missense 2:229771583-229771583 - HCT8 COSM3048063 c.2625G>T p.K875N Substitution - Missense 2:229804028-229804028 - 1_RESISTANT COSM1720779 c.5337C>T p.T1779T Substitution - coding silent 2:229774229-229774229 - SJMB041 COSM255827 c.2290C>T p.Q764* Substitution - Nonsense 2:229807770-229807770 - 585267 COSM326770 c.1181C>A p.S394* Substitution - Nonsense 2:229830785-229830785 - LC_S31 COSM1186149 c.4679G>T p.R1560L Substitution - Missense 2:229787596-229787596 - TCGA-BT-A0YX-01 COSM418834 c.4150C>T p.L1384L Substitution - coding silent 2:229791906-229791906 - TCGA-AX-A05Z-01 COSM1017531 c.4691G>T p.R1564I Substitution - Missense 2:229787584-229787584 - TCGA-CG-4305-01 COSM4092206 c.5437G>A p.V1813I Substitution - Missense 2:229774129-229774129 - LIM2405 COSM4613566 c.4298_4299insA p.H1434fs*2 Insertion - Frameshift 2:229791143-229791144 - TCGA-EE-A2GM-06 COSM3578819 c.4247G>A p.R1416K Substitution - Missense 2:229791195-229791195 - 0035_CRUK_PC_0035_T1_DNA COSM5423211 c.1335A>G p.G445G Substitution - coding silent 2:229818484-229818484 - 94 COSM5014288 c.3251A>G p.N1084S Substitution - Missense 2:229798881-229798881 - TCGA-06-2563-01 COSM2152860 c.3085A>G p.K1029E Substitution - Missense 2:229799047-229799047 - TCGA-AX-A0J0-01 COSM1017552 c.142G>A p.D48N Substitution - Missense 2:229859531-229859531 - WA18 COSM242055 c.3235A>G p.K1079E Substitution - Missense 2:229798897-229798897 - TCGA-D1-A17Q-01 COSM1017550 c.461G>A p.S154N Substitution - Missense 2:229859212-229859212 - TCGA-37-3789-01 COSM720302 c.1638G>T p.L546F Substitution - Missense 2:229814275-229814275 - TCGA-FP-A4BE-01 COSM4092212 c.3010C>T p.R1004* Substitution - Nonsense 2:229799355-229799355 - SJRHB002 COSM3738386 c.5520G>C p.S1840S Substitution - coding silent 2:229771582-229771582 - T3724 COSM4736347 c.1201C>T p.R401C Substitution - Missense 2:229830765-229830765 - MedB-1 COSM5622058 c.4357T>C p.Y1453H Substitution - Missense 2:229789724-229789724 - SJMB041 COSM255827 c.2290C>T p.Q764* Substitution - Nonsense 2:229807770-229807770 - TCGA-AZ-4315-01 COSM1406055 c.5205A>G p.S1735S Substitution - coding silent 2:229777414-229777414 - LAU149 COSM235515 c.5499C>T p.G1833G Substitution - coding silent 2:229771603-229771603 - TCGA-FU-A23L-01 COSM461124 c.554C>G p.S185* Substitution - Nonsense 2:229859119-229859119 - CCK81 COSM3048107 c.273delA p.K91fs*26 Deletion - Frameshift 2:229859400-229859400 - YUKLAB COSM1692133 c.1801G>A p.A601T Substitution - Missense 2:229813911-229813911 - TCGA-AP-A056-01 COSM1017540 c.2984G>A p.R995Q Substitution - Missense 2:229799381-229799381 - TCGA-D3-A2JD-06 COSM3578815 c.5547C>T p.F1849F Substitution - coding silent 2:229771555-229771555 - TCGA-DK-A3WW-01 COSM3798720 c.770C>T p.S257F Substitution - Missense 2:229858903-229858903 - Pat_45_B COSM5861962 c.641C>T p.S214F Substitution - Missense 2:229859032-229859032 - TCGA-DM-A28G-01 COSM1406062 c.2865A>G p.G955G Substitution - coding silent 2:229802368-229802368 - Pat_41_B COSM5861961 c.4160C>T p.A1387V Substitution - Missense 2:229791896-229791896 - 23 COSM5748432 c.2628T>A p.D876E Substitution - Missense 2:229804025-229804025 - pfg016T COSM1641859 c.1882C>T p.R628C Substitution - Missense 2:229811165-229811165 - TCGA-B5-A11E-01 COSM1017547 c.1228G>A p.G410S Substitution - Missense 2:229829271-229829271 - TCGA-AA-A01R-01 COSM300170 c.4771C>T p.R1591C Substitution - Missense 2:229785855-229785855 - PTC-7C COSM4133530 c.765T>G p.G255G Substitution - coding silent 2:229858908-229858908 - ASHPC_0016_Pa_P COSM3782135 c.2412C>T p.A804A Substitution - coding silent 2:229805743-229805743 - LUAD-E00897 COSM364544 c.989G>T p.G330V Substitution - Missense 2:229840840-229840840 - BK0074 COSM4188594 c.117_130del14 p.A40fs*21 Deletion - Frameshift 2:229859543-229859556 - TCGA-A6-6781-01 COSM1406067 c.1949C>T p.T650I Substitution - Missense 2:229811008-229811008 - TCGA-BH-A1FG-01 COSM1482843 c.3247_3248delTC p.S1083fs*2 Deletion - Frameshift 2:229798884-229798885 - DN11226 COSM5782918 c.1740T>C p.N580N Substitution - coding silent 2:229813972-229813972 - T2269 COSM4736348 c.615G>A p.S205S Substitution - coding silent 2:229859058-229859058 - TCGA-CG-4442-01 COSM4092219 c.613T>C p.S205P Substitution - Missense 2:229859060-229859060 - SYN03PT2 COSM1732588 c.3203C>T p.A1068V Substitution - Missense 2:229798929-229798929 - TCGA-B5-A11E-01 COSM1017525 c.5827T>C p.F1943L Substitution - Missense 2:229767706-229767706 - CHC892T COSM4797538 c.3545G>A p.R1182K Substitution - Missense 2:229796637-229796637 - TCGA-CJ-6030-01 COSM477048 c.5204C>A p.S1735* Substitution - Nonsense 2:229777415-229777415 - TCGA-E9-A1ND-01 COSM1482842 c.3583_3584insT p.S1195fs*18 Insertion - Frameshift 2:229796598-229796599 - TCGA-EJ-7783-01 COSM3673633 c.101G>T p.S34I Substitution - Missense 2:229859572-229859572 - DN12101 COSM5790521 c.3916G>A p.G1306R Substitution - Missense 2:229792973-229792973 - DLD1 COSM1669832 c.4427G>T p.R1476I Substitution - Missense 2:229789654-229789654 - S02350 COSM5694758 c.4986G>T p.G1662G Substitution - coding silent 2:229778586-229778586 - TCGA-B5-A0JY-01 COSM1017545 c.1912-1G>T p.? Unknown 2:229811046-229811046 - 2492702 COSM5600725 c.1609G>A p.D537N Substitution - Missense 2:229814304-229814304 - SJRHB002_D COSM3738386 c.5520G>C p.S1840S Substitution - coding silent 2:229771582-229771582 - TCGA-EB-A41A-01 COSM1017529 c.5519C>T p.S1840L Substitution - Missense 2:229771583-229771583 - TCGA-AZ-6598-01 COSM1406074 c.711G>A p.A237A Substitution - coding silent 2:229858962-229858962 - TCGA-BR-6566-01 COSM4092217 c.836T>C p.L279P Substitution - Missense 2:229858837-229858837 - HCC108T COSM1614487 c.5249A>G p.Y1750C Substitution - Missense 2:229777370-229777370 - 2492703 COSM5600725 c.1609G>A p.D537N Substitution - Missense 2:229814304-229814304 - ICGC_MB26 COSM307152 c.57C>T p.N19N Substitution - coding silent 2:229880023-229880023 - T3024 COSM4736342 c.4298delA p.K1433fs*18 Deletion - Frameshift 2:229791144-229791144 - B16-Tumor COSM1752413 c.266C>G p.A89G Substitution - Missense 2:229859407-229859407 - TCGA-AN-A046-01 COSM1017530 c.5407G>A p.E1803K Substitution - Missense 2:229774159-229774159 - TCGA-22-4599-01 COSM720306 c.3835G>A p.V1279M Substitution - Missense 2:229793054-229793054 - PT08_2 COSM5894273 c.3083-5C>T p.? Unknown 2:229799054-229799054 - T1154 COSM4736342 c.4298delA p.K1433fs*18 Deletion - Frameshift 2:229791144-229791144 - TCGA-06-2563-01 COSM2152864 c.3134T>G p.L1045W Substitution - Missense 2:229798998-229798998 - T2950 COSM4736345 c.1682G>A p.G561D Substitution - Missense 2:229814030-229814030 - TCGA-AX-A0J0-01 COSM1017536 c.3776A>C p.K1259T Substitution - Missense 2:229793113-229793113 - ESO-866 COSM1268619 c.1527G>T p.M509I Substitution - Missense 2:229815159-229815159 - TCGA-AA-3492-01 COSM1406060 c.3583delT p.S1195fs*24 Deletion - Frameshift 2:229796599-229796599 - TCGA-AA-A00O-01 COSM298942 c.2709T>G p.L903L Substitution - coding silent 2:229803635-229803635 - I2L-P19Tb-Tumor-Organoid COSM5354266 c.968G>A p.S323N Substitution - Missense 2:229840861-229840861 - HCC134T COSM5818910 c.1549G>T p.A517S Substitution - Missense 2:229815137-229815137 - TCGA-DB-5274-01 COSM3972058 c.2195G>T p.C732F Substitution - Missense 2:229808252-229808252 - SNU-C4 COSM4615676 c.3145delA p.T1049fs*5 Deletion - Frameshift 2:229798987-229798987 - LIM2405 COSM4642616 c.974G>A p.R325H Substitution - Missense 2:229840855-229840855 - RK267_C01 COSM4946429 c.1147G>T p.A383S Substitution - Missense 2:229830819-229830819 - H650 COSM1194261 c.3917G>T p.G1306V Substitution - Missense 2:229792226-229792226 - TCGA-BG-A0LX-01 COSM1017541 c.2654+1G>A p.? Unknown 2:229803998-229803998 - TCGA-A6-6141-01 COSM1406064 c.2501T>G p.F834C Substitution - Missense 2:229804152-229804152 - HCC137T COSM1614491 c.3551T>G p.I1184S Substitution - Missense 2:229796631-229796631 - TCGA-AN-A046-01 COSM3838791 c.4448G>A p.R1483Q Substitution - Missense 2:229789633-229789633 - T3658 COSM4736346 c.1564G>A p.A522T Substitution - Missense 2:229815122-229815122 - 2492729 COSM3048112 c.195G>A p.K65K Substitution - coding silent 2:229859478-229859478 - TCGA-BR-4280-01 COSM4092208 c.4639C>T p.R1547W Substitution - Missense 2:229787636-229787636 - T3658 COSM3048017 c.5002A>G p.K1668E Substitution - Missense 2:229778570-229778570 - TCGA-CA-6717-01 COSM1406077 c.519G>A p.A173A Substitution - coding silent 2:229859154-229859154 - TCGA-E5-A2PC-01 COSM1306517 c.4784G>A p.R1595Q Substitution - Missense 2:229785842-229785842 - TCGA-CJ-4637-01 COSM1136619 c.135A>G p.Q45Q Substitution - coding silent 2:229859538-229859538 - LS411 COSM3048044 c.3717C>T p.F1239F Substitution - coding silent 2:229795205-229795205 - 2492700 COSM5600725 c.1609G>A p.D537N Substitution - Missense 2:229814304-229814304 - OSCC-GB_00880111 COSM4888042 c.2370G>A p.T790T Substitution - coding silent 2:229805785-229805785 - TCGA-06-2558 COSM2152598 c.183G>A p.G61G Substitution - coding silent 2:229859490-229859490 - sysucc-880T COSM5463093 c.632C>T p.S211L Substitution - Missense 2:229859041-229859041 - BN40T COSM1614490 c.3610A>G p.I1204V Substitution - Missense 2:229795312-229795312 - Au2 COSM5600725 c.1609G>A p.D537N Substitution - Missense 2:229814304-229814304 - HCT15 COSM3048063 c.2625G>T p.K875N Substitution - Missense 2:229804028-229804028 - J46_T COSM3962498 c.4064A>G p.Y1355C Substitution - Missense 2:229791992-229791992 - TCGA-G4-6588-01 COSM1406060 c.3583delT p.S1195fs*24 Deletion - Frameshift 2:229796599-229796599 - TCGA-BR-4184-01 COSM3048013 c.5093G>A p.R1698H Substitution - Missense 2:229778479-229778479 - BD114T COSM5502630 c.4919A>G p.Q1640R Substitution - Missense 2:229778941-229778941 - TCGA-AC-A23H-01 COSM3838790 c.4716C>T p.I1572I Substitution - coding silent 2:229787559-229787559 - TCGA-FV-A2QQ-01 COSM4910776 c.293C>T p.T98I Substitution - Missense 2:229859380-229859380 - CHC2362T COSM4957054 c.5161C>A p.P1721T Substitution - Missense 2:229777458-229777458 - TCGA-BS-A0UF-01 COSM1017535 c.4005A>C p.L1335L Substitution - coding silent 2:229792051-229792051 - STC246 COSM5058723 c.4089A>G p.V1363V Substitution - coding silent 2:229791967-229791967 - PAPJIB COSM5004358 c.3730G>A p.G1244R Substitution - Missense 2:229795192-229795192 - A673 COSM3048088 c.1334G>A p.G445E Substitution - Missense 2:229818485-229818485 - 2492701 COSM5600725 c.1609G>A p.D537N Substitution - Missense 2:229814304-229814304 - LOVO COSM3048059 c.2751delT p.F917fs*10 Deletion - Frameshift 2:229803593-229803593 - TCGA-CG-5721-01 COSM4092216 c.1348G>A p.D450N Substitution - Missense 2:229818471-229818471 - HCC108 COSM1614487 c.5249A>G p.Y1750C Substitution - Missense 2:229777370-229777370 - T2269 COSM4736339 c.4717A>G p.N1573D Substitution - Missense 2:229787558-229787558 - HCC89 COSM1614489 c.4324G>A p.V1442M Substitution - Missense 2:229789757-229789757 - CSCC-7-T COSM4486243 c.3029C>T p.P1010L Substitution - Missense 2:229799336-229799336 - T3145 COSM4736338 c.5182C>T p.R1728W Substitution - Missense 2:229777437-229777437 - SNUH_G73_S1 COSM149086 c.2511A>G p.T837T Substitution - coding silent 2:229804142-229804142 - TCGA-06-2563 COSM2152860 c.3085A>G p.K1029E Substitution - Missense 2:229799047-229799047 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.591626;Hs.591629;Hs.591630;Hs.591632;Hs.591633 2q36.3 604506 2449312|CGAP|BC113891|C/T|non-coding||5243|Validated; 2449312|CGAP|BC114556|C/T|non-coding||6197|Validated; 2449313|CGAP|BC113891|A/G|non-coding||5256|Candidate; 2449313|CGAP|BC114556|A/G|non-coding||6210|Candidate; 2424544|dbSNP|BC113891|A/C|non-coding||5283|Candidate; 2424544|dbSNP|BC114556|A/C|non-coding||6237|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.1-1983T>G 2 230746778 CLL A C Missense p.L1045W c.3134T>G 2 230663714 GBM A C Missense p.L411R c.1232T>G 2 230693983 CM A C Nonsense p.L1270* c.3809T>G 2 230657796 ESCA A C Synonymous p.L903L c.2709T>G 2 230668351 COREAD - ACTGCT Nonsense p.F1464*fs*1 c.4390_4391insAGCAGT 2 230654406 UCEC - A Frameshift p.S1195Ffs*18 c.3583dupT 2 230661315 BRCA - A Frameshift p.V1142Cfs*5 c.3423dupT 2 230661475 LUAD A G IntronicSNV . c.4984+5T>C 2 230643587 CLL A G Missense p.S278P c.832T>C 2 230723557 SCLC A G Missense p.V841A c.2522T>C 2 230668847 CM A G Synonymous p.K174K c.522A>G 2 230723867 GBM - A IntronicInsertion . c.5470-11dupT 2 230636359 ESCA A T IntronicSNV . c.2352+128T>A 2 230672296 ESCA A T Missense p.D818E c.2454T>A 2 230668915 OV A T Missense p.L442Q c.1325T>A 2 230683210 OV A T Missense p.S848T c.2542T>A 2 230668827 STAD C A Missense p.L546F c.1638G>T 2 230678991 LUSC C A Missense p.M509I c.1527G>T 2 230679875 ESCA C A Missense p.R777M c.2330G>T 2 230672446 STAD C A Missense p.S34I c.101G>T 2 230724288 PRAD C A Missense p.V1359L c.4075G>T 2 230656697 SCLC C A Nonsense p.E937* c.2809G>T 2 230667140 CM C A Nonsense p.G1308* c.3922G>T 2 230656937 CM C A SpliceAcceptorSNV . c.1681-1G>T 2 230678748 LUAD C A Synonymous p.A1602A c.4806G>T 2 230650536 RCCC C A Synonymous p.R1558R c.4674G>T 2 230652317 CM C G Missense p.E1596Q c.4786G>C 2 230650556 LUSC C G Missense p.G189R c.565G>C 2 230723824 ESCA C G Missense p.G22A c.65G>C 2 230744731 LUAD C G Missense p.Q614H c.1842G>C 2 230678586 LUSC C - IntronicDeletion . c.1680+1delG 2 230678948 BRCA CT - Frameshift p.L1773Tfs*15 c.5314_5315delAG 2 230638967 LGG C T IntronicSNV . c.2352+20G>A 2 230672404 STAD C T Missense p.A1688T c.5062G>A 2 230643226 CM C T Missense p.A1705T c.5113G>A 2 230643175 LUSC C T Missense p.A179T c.535G>A 2 230723854 OV C T Missense p.D1275N c.3823G>A 2 230657782 MM C T Missense p.E1373K c.4117G>A 2 230656655 HC C T Missense p.E1803K c.5407G>A 2 230638875 BRCA C T Missense p.E571K c.1711G>A 2 230678717 BRCA C T Missense p.G1413S c.4237G>A 2 230655921 LUAD C T Missense p.G1441E c.4322G>A 2 230654475 LUAD C T Missense p.G22E c.65G>A 2 230744731 CM C T Missense p.G61E c.182G>A 2 230724207 LUSC C T Missense p.M1523I c.4569G>A 2 230653558 HNSC C T Missense p.R1402K c.4205G>A 2 230655953 CM C T Missense p.R1416K c.4247G>A 2 230655911 CM C T Missense p.R1547Q c.4640G>A 2 230652351 BRCA C T Missense p.R1547Q c.4640G>A 2 230652351 STAD C T Missense p.R1595Q c.4784G>A 2 230650558 BLCA C T Missense p.R1595Q c.4784G>A 2 230650558 STAD C T Missense p.R1912K c.5735G>A 2 230633379 CM C T Missense p.R265H c.794G>A 2 230723595 COREAD C T Missense p.S433N c.1298G>A 2 230693917 HNSC C T Missense p.V1279M c.3835G>A 2 230657770 LUSC C T Missense p.V1813I c.5437G>A 2 230638845 STAD C T SpliceDonorSNV . c.2654+1G>A 2 230668714 UCEC C T Synonymous p.E637E c.1911G>A 2 230675852 CM C T Synonymous p.G61G c.183G>A 2 230724206 GBM C T Synonymous p.R1728R c.5184G>A 2 230642151 STAD GA - Frameshift p.S1083Qfs*2 c.3247_3248delTC 2 230663600 BRCA G A IntronicSNV . c.3744-204C>T 2 230658065 HC G A IntronicSNV . c.99-917C>T 2 230725207 CM G A Missense p.A1065V c.3194C>T 2 230663654 HNSC G A Missense p.A173V c.518C>T 2 230723871 LGG G A Missense p.L1531F c.4591C>T 2 230653536 ESCA G A Missense p.L1866F c.5596C>T 2 230634029 CM G A Missense p.P1233S c.3697C>T 2 230659941 CM G A Missense p.P1383S c.4147C>T 2 230656625 BRCA G A Missense p.P1456L c.4367C>T 2 230654430 CM G A Missense p.P1954S c.5860C>T 2 230632389 CM G A Missense p.P86S c.256C>T 2 230724133 LUAD G A Missense p.R1547W c.4639C>T 2 230652352 STAD G A Missense p.R422W c.1264C>T 2 230693951 ESCA G A Missense p.R628C c.1882C>T 2 230675881 STAD G A Missense p.R766C c.2296C>T 2 230672480 STAD G A Missense p.S1155L c.3464C>T 2 230661434 ESCA G A Missense p.S124F c.371C>T 2 230724018 LUAD G A Missense p.S1427F c.4280C>T 2 230655878 CM G A Missense p.S618L c.1853C>T 2 230675910 LUAD G A Missense p.T1032I c.3095C>T 2 230663753 CM G A Missense p.T941I c.2822C>T 2 230667127 LUAD G A Nonsense p.Q1269* c.3805C>T 2 230657800 LUAD G A Nonsense p.Q1548* c.4642C>T 2 230652349 HNSC G A Nonsense p.Q1855* c.5563C>T 2 230636255 HNSC G A Nonsense p.Q653* c.1957C>T 2 230675716 RCCC G A Nonsense p.Q96* c.286C>T 2 230724103 LUAD G A Nonsense p.R1483* c.4447C>T 2 230654350 UCEC G A Nonsense p.R820* c.2458C>T 2 230668911 LGG G A Synonymous p.D1319D c.3957C>T 2 230656902 LUAD G A Synonymous p.F1849F c.5547C>T 2 230636271 CM G A Synonymous p.G1610G c.4830C>T 2 230650512 OV G A Synonymous p.I1184I c.3552C>T 2 230661346 CM G A Synonymous p.L1000L c.2998C>T 2 230664083 STAD G A Synonymous p.L1384L c.4150C>T 2 230656622 BLCA G A Synonymous p.L607L c.1819C>T 2 230678609 BRCA G A Synonymous p.N19N c.57C>T 2 230744739 MB G A Synonymous p.P1203P c.3609C>T 2 230660029 CM G A Synonymous p.R1698R c.5094C>T 2 230643194 BRCA G A Synonymous p.S706S c.2118C>T 2 230673045 CM G A Synonymous p.V1148V c.3444C>T 2 230661454 BLCA G C IntronicSNV . c.902-3149C>G 2 230708792 CLL G C Missense p.P1467R c.4400C>G 2 230654397 CM G C Missense p.Q1281E c.3841C>G 2 230657764 OV G C Missense p.Q1640E c.4918C>G 2 230643658 LUSC G C Missense p.S1227R c.3681C>G 2 230659957 LUSC G C Nonsense p.S1149* c.3446C>G 2 230661452 LUAD G C Nonsense p.S165* c.494C>G 2 230723895 BLCA G C Nonsense p.Y1015* c.3045C>G 2 230664036 HNSC G C Synonymous p.V1848V c.5544C>G 2 230636274 BLCA G - Frameshift p.S204Pfs*6 c.609delC 2 230723780 BRCA G T Missense p.A968D c.2903C>A 2 230667046 PAAD G T Missense p.L1190I c.3568C>A 2 230661330 UCEC G T Missense p.Q147K c.439C>A 2 230723950 BRCA G T Missense p.Q1578K c.4732C>A 2 230652259 MM G T Nonsense p.S1735* c.5204C>A 2 230642131 RCCC G T Nonsense p.S394* c.1181C>A 2 230695501 SCLC G T Nonsense p.Y1015* c.3045C>A 2 230664036 THCA T A IntronicSNV . c.1-19967A>T 2 230764762 CLL T A IntronicSNV . c.99-898A>T 2 230725188 STAD T A Missense p.Q534L c.1601A>T 2 230679028 BRCA T A Missense p.S271C c.811A>T 2 230723578 CM T A Missense p.Y1620F c.4859A>T 2 230650483 HNSC T A Synonymous p.P1797P c.5391A>T 2 230638891 LUSC T A Synonymous p.P9P c.27A>T 2 230744769 NSCLC T C IntronicSNV . c.1-23754A>G 2 230768549 CLL T C Missense p.H613R c.1838A>G 2 230678590 LUSC T C Missense p.I1368M c.4104A>G 2 230656668 CM T C Missense p.I592V c.1774A>G 2 230678654 HNSC T C Missense p.K1029E c.3085A>G 2 230663763 GBM T C Missense p.K1174E c.3520A>G 2 230661378 NSCLC T C Missense p.N1382S c.4145A>G 2 230656627 COREAD T C Missense p.Q1256R c.3767A>G 2 230657838 PRAD T C Missense p.S554G c.1660A>G 2 230678969 ESCA T C Missense p.T1667A c.4999A>G 2 230643289 HNSC T C Synonymous p.A1555A c.4665A>G 2 230652326 HNSC T C Synonymous p.K1038K c.3114A>G 2 230663734 GBM T C Synonymous p.Q453Q c.1359A>G 2 230683176 GBM T - Frameshift p.K91Nfs*26 c.273delA 2 230724116 HNSC - T Frameshift p.M670Nfs*46 c.2008dupA 2 230675665 RCCC