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 7 43351432 43351432 + Missense_Mutation SNP G G A TCGA-OR-A5K4-01A-11D-A29I-10 TCGA-OR-A5K4-10A-01D-A29L-10 g.chr7:43351432G>A c.98G>A c.(97-99)cGc>cAc p.R33H BLCA 7 43360290 43360290 + Missense_Mutation SNP C C T TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr7:43360290C>T c.409C>T c.(409-411)Cat>Tat p.H137Y BLCA 7 43436489 43436489 + Splice_Site SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 g.chr7:43436489G>C c.e7+1 BLCA 7 43484403 43484403 + Silent SNP G G A TCGA-S5-A6DX-01A-11D-A31L-08 TCGA-S5-A6DX-10A-01D-A31J-08 g.chr7:43484403G>A c.1632G>A c.(1630-1632)acG>acA p.T544T BLCA 7 43484467 43484467 + Missense_Mutation SNP C C G TCGA-UY-A9PB-01A-11D-A38G-08 TCGA-UY-A9PB-10A-01D-A38J-08 g.chr7:43484467C>G c.1696C>G c.(1696-1698)Ctg>Gtg p.L566V BLCA 7 43484544 43484544 + Silent SNP C C G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr7:43484544C>G c.1773C>G c.(1771-1773)ctC>ctG p.L591L BLCA 7 43484652 43484652 + Silent SNP G G A TCGA-C4-A0F7-01A-11D-A10S-08 TCGA-C4-A0F7-10A-01D-A10S-08 g.chr7:43484652G>A c.1881G>A c.(1879-1881)acG>acA p.T627T BLCA 7 43484701 43484701 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 g.chr7:43484701G>A c.1930G>A c.(1930-1932)Gcg>Acg p.A644T BLCA 7 43484767 43484767 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 g.chr7:43484767G>A c.1996G>A c.(1996-1998)Ggg>Agg p.G666R BLCA 7 43484793 43484793 + Silent SNP C C T TCGA-GV-A6ZA-01A-12D-A339-08 TCGA-GV-A6ZA-10A-01D-A339-08 g.chr7:43484793C>T c.2022C>T c.(2020-2022)gaC>gaT p.D674D BLCA 7 43484922 43484922 + Silent SNP G G A TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr7:43484922G>A c.2151G>A c.(2149-2151)acG>acA p.T717T BLCA 7 43484924 43484924 + Missense_Mutation SNP G G A TCGA-XF-A9T6-01A-11D-A42E-08 TCGA-XF-A9T6-10A-01D-A42H-08 g.chr7:43484924G>A c.2153G>A c.(2152-2154)cGc>cAc p.R718H BLCA 7 43485074 43485074 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 g.chr7:43485074C>A c.2303C>A c.(2302-2304)cCg>cAg p.P768Q BLCA 7 43485142 43485142 + Missense_Mutation SNP G G A TCGA-FD-A62O-01A-11D-A30E-08 TCGA-FD-A62O-10A-01D-A30H-08 g.chr7:43485142G>A c.2371G>A c.(2371-2373)Gtg>Atg p.V791M BLCA 7 43503285 43503285 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 g.chr7:43503285C>G c.2678C>G c.(2677-2679)gCa>gGa p.A893G BLCA 7 43508602 43508602 + Silent SNP C C G TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 g.chr7:43508602C>G c.2997C>G c.(2995-2997)cgC>cgG p.R999R BLCA 7 43531696 43531696 + Missense_Mutation SNP G G C TCGA-FD-A62O-01A-11D-A30E-08 TCGA-FD-A62O-10A-01D-A30H-08 g.chr7:43531696G>C c.3257G>C c.(3256-3258)aGa>aCa p.R1086T BLCA 7 43531747 43531747 + Missense_Mutation SNP G G A TCGA-FD-A62O-01A-11D-A30E-08 TCGA-FD-A62O-10A-01D-A30H-08 g.chr7:43531747G>A c.3308G>A c.(3307-3309)cGa>cAa p.R1103Q BLCA 7 43532701 43532701 + Missense_Mutation SNP T T C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 g.chr7:43532701T>C c.3359T>C c.(3358-3360)gTg>gCg p.V1120A BLCA 7 43540360 43540360 + Missense_Mutation SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr7:43540360C>T c.3500C>T c.(3499-3501)gCg>gTg p.A1167V BLCA 7 43540819 43540819 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr7:43540819G>A c.3529G>A c.(3529-3531)Gaa>Aaa p.E1177K BLCA 7 43546778 43546778 + Missense_Mutation SNP G G C TCGA-BT-A42E-01A-11D-A23U-08 TCGA-BT-A42E-10A-01D-A23U-08 g.chr7:43546778G>C c.3674G>C c.(3673-3675)aGa>aCa p.R1225T BLCA 7 43547627 43547627 + Missense_Mutation SNP C C A TCGA-FD-A3B4-01A-12D-A202-08 TCGA-FD-A3B4-10A-01D-A202-08 g.chr7:43547627C>A c.3763C>A c.(3763-3765)Cgc>Agc p.R1255S BLCA 7 43547627 43547627 + Missense_Mutation SNP C C T TCGA-4Z-AA89-01A-11D-A391-08 TCGA-4Z-AA89-10A-01D-A394-08 g.chr7:43547627C>T c.3763C>T c.(3763-3765)Cgc>Tgc p.R1255C BLCA 7 43547649 43547649 + Missense_Mutation SNP G G C TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr7:43547649G>C c.3785G>C c.(3784-3786)gGa>gCa p.G1262A BRCA 7 43351515 43351515 + Missense_Mutation SNP G G A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 g.chr7:43351515G>A c.181G>A c.(181-183)Gtc>Atc p.V61I BRCA 7 43436434 43436434 + Missense_Mutation SNP G G A TCGA-AC-A2QH-01A-11D-A18P-09 TCGA-AC-A2QH-10A-01D-A18P-09 g.chr7:43436434G>A c.577G>A c.(577-579)Gat>Aat p.D193N BRCA 7 43482155 43482155 + Silent SNP C C T TCGA-A7-A2KD-01A-31D-A21Q-09 TCGA-A7-A2KD-10A-01D-A21Q-09 g.chr7:43482155C>T c.972C>T c.(970-972)ggC>ggT p.G324G BRCA 7 43483924 43483924 + Frame_Shift_Del DEL C C - TCGA-E9-A1NI-01A-11W-A16H-09 TCGA-E9-A1NI-10A-01D-A17G-09 g.chr7:43483924delC c.1153delC c.(1153-1155)ccafs p.P385fs BRCA 7 43484065 43484065 + Missense_Mutation SNP T T A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr7:43484065T>A c.1294T>A c.(1294-1296)Tct>Act p.S432T BRCA 7 43484146 43484146 + Missense_Mutation SNP G G T TCGA-BH-A0C1-01B-11D-A12B-09 TCGA-BH-A0C1-10A-01D-A12B-09 g.chr7:43484146G>T c.1375G>T c.(1375-1377)Gcc>Tcc p.A459S BRCA 7 43484164 43484164 + Missense_Mutation SNP G G T TCGA-GI-A2C8-01A-11D-A16D-09 TCGA-GI-A2C8-11A-22D-A16D-09 g.chr7:43484164G>T c.1393G>T c.(1393-1395)Ggt>Tgt p.G465C BRCA 7 43484512 43484512 + Nonsense_Mutation SNP G G T TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 g.chr7:43484512G>T c.1741G>T c.(1741-1743)Gag>Tag p.E581* BRCA 7 43484586 43484586 + Silent SNP G G A TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 g.chr7:43484586G>A c.1815G>A c.(1813-1815)acG>acA p.T605T BRCA 7 43484778 43484778 + Silent SNP T T C TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr7:43484778T>C c.2007T>C c.(2005-2007)agT>agC p.S669S BRCA 7 43506070 43506070 + Missense_Mutation SNP C C A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr7:43506070C>A c.2816C>A c.(2815-2817)tCt>tAt p.S939Y BRCA 7 43506115 43506115 + Missense_Mutation SNP C C T TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 g.chr7:43506115C>T c.2861C>T c.(2860-2862)gCg>gTg p.A954V BRCA 7 43532742 43532742 + Missense_Mutation SNP G G A TCGA-BH-A0W7-01A-11D-A10Y-09 TCGA-BH-A0W7-10A-01D-A110-09 g.chr7:43532742G>A c.3400G>A c.(3400-3402)Gag>Aag p.E1134K BRCA 7 43540893 43540893 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr7:43540893A>C c.3603A>C c.(3601-3603)tcA>tcC p.S1201S BRCA 7 43546786 43546786 + Missense_Mutation SNP G G C TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 g.chr7:43546786G>C c.3682G>C c.(3682-3684)Gag>Cag p.E1228Q BRCA 7 43546850 43546850 + Missense_Mutation SNP A A T TCGA-A7-A0CE-01A-11W-A019-09 TCGA-A7-A0CE-10A-01W-A021-09 g.chr7:43546850A>T c.3746A>T c.(3745-3747)aAa>aTa p.K1249I BRCA 7 43548589 43548589 + Silent SNP G G A TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 g.chr7:43548589G>A c.3888G>A c.(3886-3888)tcG>tcA p.S1296S BRCA 7 43548644 43548645 + Frame_Shift_Del DEL TT TT - TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 g.chr7:43548644_43548645delTT c.3943_3944delTT c.(3943-3945)tttfs p.F1315fs BRCA 7 43580831 43580831 + Silent SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 g.chr7:43580831G>C c.4089G>C c.(4087-4089)acG>acC p.T1363T BRCA 7 43590145 43590145 + Silent SNP C C T TCGA-A2-A04Q-01A-21W-A050-09 TCGA-A2-A04Q-10A-01W-A055-09 g.chr7:43590145C>T c.4350C>T c.(4348-4350)cgC>cgT p.R1450R BRCA 7 43591895 43591895 + Silent SNP C C A TCGA-E2-A14X-01A-11D-A10Y-09 TCGA-E2-A14X-10A-01D-A110-09 g.chr7:43591895C>A c.4470C>A c.(4468-4470)atC>atA p.I1490I BRCA 7 43591930 43591930 + Missense_Mutation SNP G G A TCGA-A8-A09W-01A-11W-A019-09 TCGA-A8-A09W-10A-01W-A021-09 g.chr7:43591930G>A c.4505G>A c.(4504-4506)cGg>cAg p.R1502Q BRCA 7 43601517 43601517 + Missense_Mutation SNP C C A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 g.chr7:43601517C>A c.4813C>A c.(4813-4815)Ctt>Att p.L1605I CESC 7 43351605 43351605 + Missense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 g.chr7:43351605G>A c.271G>A c.(271-273)Ggg>Agg p.G91R CESC 7 43447187 43447187 + Missense_Mutation SNP G G C TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 g.chr7:43447187G>C c.658G>C c.(658-660)Ggg>Cgg p.G220R CESC 7 43484020 43484020 + Nonsense_Mutation SNP G G T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 g.chr7:43484020G>T c.1249G>T c.(1249-1251)Gag>Tag p.E417* CESC 7 43484129 43484129 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 g.chr7:43484129C>T c.1358C>T c.(1357-1359)cCc>cTc p.P453L CESC 7 43484164 43484164 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 g.chr7:43484164G>T c.1393G>T c.(1393-1395)Ggt>Tgt p.G465C CESC 7 43484309 43484309 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr7:43484309C>T c.1538C>T c.(1537-1539)tCt>tTt p.S513F CESC 7 43484406 43484406 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr7:43484406G>A c.1635G>A c.(1633-1635)gtG>gtA p.V545V CESC 7 43484575 43484575 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 g.chr7:43484575G>A c.1804G>A c.(1804-1806)Gag>Aag p.E602K CESC 7 43508528 43508528 + Nonsense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 g.chr7:43508528C>T c.2923C>T c.(2923-2925)Cga>Tga p.R975* COAD 7 43351395 43351395 + Missense_Mutation SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr7:43351395G>A c.61G>A c.(61-63)Gcc>Acc p.A21T COAD 7 43351430 43351430 + Silent SNP A A G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr7:43351430A>G c.96A>G c.(94-96)cgA>cgG p.R32R COAD 7 43351528 43351528 + Missense_Mutation SNP G G A TCGA-A6-6782-01A-11D-1835-10 TCGA-A6-6782-10A-01D-1835-10 g.chr7:43351528G>A c.194G>A c.(193-195)cGc>cAc p.R65H COAD 7 43351609 43351609 + Missense_Mutation SNP A A G TCGA-AA-3989-01A-01W-0995-10 TCGA-AA-3989-10A-01W-0999-10 g.chr7:43351609A>G c.275A>G c.(274-276)cAc>cGc p.H92R COAD 7 43360342 43360342 + Splice_Site SNP G G A TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr7:43360342G>A c.e5+1 COAD 7 43447190 43447190 + Missense_Mutation SNP A A G TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr7:43447190A>G c.661A>G c.(661-663)Atg>Gtg p.M221V COAD 7 43447193 43447193 + Missense_Mutation SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:43447193T>C c.664T>C c.(664-666)Ttt>Ctt p.F222L COAD 7 43447326 43447326 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr7:43447326C>T c.797C>T c.(796-798)gCc>gTc p.A266V COAD 7 43477604 43477604 + Silent SNP A A G TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr7:43477604A>G c.804A>G c.(802-804)caA>caG p.Q268Q COAD 7 43477673 43477673 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr7:43477673C>T c.873C>T c.(871-873)cgC>cgT p.R291R COAD 7 43483896 43483896 + Silent SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr7:43483896C>T c.1125C>T c.(1123-1125)agC>agT p.S375S COAD 7 43484180 43484180 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr7:43484180C>T c.1409C>T c.(1408-1410)gCa>gTa p.A470V COAD 7 43484497 43484497 + Missense_Mutation SNP G G A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr7:43484497G>A c.1726G>A c.(1726-1728)Ggc>Agc p.G576S COAD 7 43484505 43484505 + Silent SNP G G A TCGA-G4-6306-01A-11D-1771-10 TCGA-G4-6306-10A-01D-1771-10 g.chr7:43484505G>A c.1734G>A c.(1732-1734)gcG>gcA p.A578A COAD 7 43484520 43484520 + Silent SNP C C T TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr7:43484520C>T c.1749C>T c.(1747-1749)gaC>gaT p.D583D COAD 7 43484556 43484556 + Silent SNP G G A TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr7:43484556G>A c.1785G>A c.(1783-1785)tcG>tcA p.S595S COAD 7 43484586 43484586 + Silent SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr7:43484586G>A c.1815G>A c.(1813-1815)acG>acA p.T605T COAD 7 43484716 43484716 + Missense_Mutation SNP G G A TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr7:43484716G>A c.1945G>A c.(1945-1947)Gac>Aac p.D649N COAD 7 43484745 43484745 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:43484745C>T c.1974C>T c.(1972-1974)agC>agT p.S658S COAD 7 43485075 43485075 + Silent SNP G G A TCGA-AA-3872-01A-01W-0995-10 TCGA-AA-3872-10A-01W-0995-10 g.chr7:43485075G>A c.2304G>A c.(2302-2304)ccG>ccA p.P768P COAD 7 43485092 43485092 + Missense_Mutation SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr7:43485092C>T c.2321C>T c.(2320-2322)gCc>gTc p.A774V COAD 7 43495895 43495895 + Splice_Site SNP G G C TCGA-AD-6901-01A-11D-1924-10 TCGA-AD-6901-10A-01D-1924-10 g.chr7:43495895G>C c.e13-1 COAD 7 43495909 43495909 + Silent SNP A A G TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr7:43495909A>G c.2514A>G c.(2512-2514)cgA>cgG p.R838R COAD 7 43495909 43495909 + Silent SNP A A G TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr7:43495909A>G c.2514A>G c.(2512-2514)cgA>cgG p.R838R COAD 7 43495920 43495920 + Missense_Mutation SNP A A G TCGA-AA-3502-01A-01D-1408-10 TCGA-AA-3502-11A-01D-1408-10 g.chr7:43495920A>G c.2525A>G c.(2524-2526)cAc>cGc p.H842R COAD 7 43495920 43495920 + Missense_Mutation SNP A A G TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr7:43495920A>G c.2525A>G c.(2524-2526)cAc>cGc p.H842R COAD 7 43495972 43495972 + Silent SNP T T C TCGA-A6-6651-01A-21D-1835-10 TCGA-A6-6651-10A-01D-1835-10 g.chr7:43495972T>C c.2577T>C c.(2575-2577)cgT>cgC p.R859R COAD 7 43503342 43503342 + Missense_Mutation SNP G G C TCGA-CM-6168-01A-11D-1650-10 TCGA-CM-6168-10A-01D-1650-10 g.chr7:43503342G>C c.2735G>C c.(2734-2736)gGa>gCa p.G912A COAD 7 43503349 43503349 + Silent SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr7:43503349C>T c.2742C>T c.(2740-2742)ggC>ggT p.G914G COAD 7 43503371 43503371 + Nonsense_Mutation SNP G G T TCGA-CM-6168-01A-11D-1650-10 TCGA-CM-6168-10A-01D-1650-10 g.chr7:43503371G>T c.2764G>T c.(2764-2766)Gaa>Taa p.E922* COAD 7 43508601 43508601 + Missense_Mutation SNP G G A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr7:43508601G>A c.2996G>A c.(2995-2997)cGc>cAc p.R999H COAD 7 43508615 43508615 + Missense_Mutation SNP C C T TCGA-DM-A1D7-01A-11D-A152-10 TCGA-DM-A1D7-10A-01D-A152-10 g.chr7:43508615C>T c.3010C>T c.(3010-3012)Cgg>Tgg p.R1004W COAD 7 43519212 43519212 + Missense_Mutation SNP T T G TCGA-AA-3511-01A-21D-1835-10 TCGA-AA-3511-11A-01D-1835-10 g.chr7:43519212T>G c.3103T>G c.(3103-3105)Ttt>Gtt p.F1035V COAD 7 43519324 43519324 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr7:43519324G>A c.3215G>A c.(3214-3216)cGa>cAa p.R1072Q COAD 7 43531726 43531726 + Missense_Mutation SNP A A G TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr7:43531726A>G c.3287A>G c.(3286-3288)cAc>cGc p.H1096R COAD 7 43546798 43546798 + Missense_Mutation SNP C C T TCGA-F4-6808-01A-11D-1835-10 TCGA-F4-6808-10A-01D-1835-10 g.chr7:43546798C>T c.3694C>T c.(3694-3696)Cgc>Tgc p.R1232C COAD 7 43547676 43547676 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:43547676C>T c.3812C>T c.(3811-3813)tCg>tTg p.S1271L COAD 7 43547679 43547679 + Missense_Mutation SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr7:43547679G>A c.3815G>A c.(3814-3816)cGg>cAg p.R1272Q COAD 7 43548589 43548589 + Silent SNP G G A TCGA-AA-A017-01A-01W-A00E-09 TCGA-AA-A017-10A-01W-A00E-09 g.chr7:43548589G>A c.3888G>A c.(3886-3888)tcG>tcA p.S1296S COAD 7 43581520 43581520 + Missense_Mutation SNP T T A TCGA-AZ-6605-01A-11D-1835-10 TCGA-AZ-6605-11A-01D-1835-10 g.chr7:43581520T>A c.4171T>A c.(4171-4173)Ttg>Atg p.L1391M COAD 7 43581520 43581520 + Silent SNP T T C TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr7:43581520T>C c.4171T>C c.(4171-4173)Ttg>Ctg p.L1391L COAD 7 43581520 43581520 + Silent SNP T T C TCGA-D5-5539-01A-01D-1650-10 TCGA-D5-5539-10A-01D-1650-10 g.chr7:43581520T>C c.4171T>C c.(4171-4173)Ttg>Ctg p.L1391L COAD 7 43581520 43581520 + Silent SNP T T C TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chr7:43581520T>C c.4171T>C c.(4171-4173)Ttg>Ctg p.L1391L COAD 7 43581521 43581521 + Missense_Mutation SNP T T C TCGA-AZ-4616-01A-21D-1835-10 TCGA-AZ-4616-10A-01D-1835-10 g.chr7:43581521T>C c.4172T>C c.(4171-4173)tTg>tCg p.L1391S COAD 7 43590187 43590187 + Silent SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr7:43590187C>T c.4392C>T c.(4390-4392)taC>taT p.Y1464Y COAD 7 43591888 43591888 + Missense_Mutation SNP C C T TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr7:43591888C>T c.4463C>T c.(4462-4464)gCg>gTg p.A1488V COAD 7 43591929 43591929 + Silent SNP C C A TCGA-AZ-5403-01A-01D-1650-10 TCGA-AZ-5403-10A-01D-1650-10 g.chr7:43591929C>A c.4504C>A c.(4504-4506)Cgg>Agg p.R1502R COAD 7 43591929 43591929 + Silent SNP C C A TCGA-DM-A28H-01A-11D-A16V-10 TCGA-DM-A28H-10A-01D-A16V-10 g.chr7:43591929C>A c.4504C>A c.(4504-4506)Cgg>Agg p.R1502R COAD 7 43591930 43591930 + Missense_Mutation SNP G G A TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr7:43591930G>A c.4505G>A c.(4504-4506)cGg>cAg p.R1502Q COAD 7 43591930 43591930 + Missense_Mutation SNP G G A TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr7:43591930G>A c.4505G>A c.(4504-4506)cGg>cAg p.R1502Q COAD 7 43591930 43591930 + Missense_Mutation SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr7:43591930G>A c.4505G>A c.(4504-4506)cGg>cAg p.R1502Q COAD 7 43591930 43591930 + Missense_Mutation SNP G G A TCGA-D5-6539-01A-11D-1719-10 TCGA-D5-6539-10A-01D-1719-10 g.chr7:43591930G>A c.4505G>A c.(4504-4506)cGg>cAg p.R1502Q COAD 7 43591930 43591930 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr7:43591930G>A c.4505G>A c.(4504-4506)cGg>cAg p.R1502Q COAD 7 43594234 43594234 + Silent SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr7:43594234G>A c.4554G>A c.(4552-4554)gcG>gcA p.A1518A COAD 7 43594242 43594242 + Missense_Mutation SNP G G A TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr7:43594242G>A c.4562G>A c.(4561-4563)cGc>cAc p.R1521H COAD 7 43594307 43594307 + Missense_Mutation SNP G G A TCGA-DM-A285-01A-11D-A16V-10 TCGA-DM-A285-10A-01D-A16V-10 g.chr7:43594307G>A c.4627G>A c.(4627-4629)Gaa>Aaa p.E1543K COAD 7 43601418 43601418 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr7:43601418C>T c.4714C>T c.(4714-4716)Cac>Tac p.H1572Y COAD 7 43601459 43601459 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr7:43601459G>A c.4755G>A c.(4753-4755)tcG>tcA p.S1585S COADREAD 7 43351395 43351395 + Missense_Mutation SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr7:43351395G>A c.61G>A c.(61-63)Gcc>Acc p.A21T COADREAD 7 43351430 43351430 + Silent SNP A A G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr7:43351430A>G c.96A>G c.(94-96)cgA>cgG p.R32R COADREAD 7 43351528 43351528 + Missense_Mutation SNP G G A TCGA-A6-6782-01A-11D-1835-10 TCGA-A6-6782-10A-01D-1835-10 g.chr7:43351528G>A c.194G>A c.(193-195)cGc>cAc p.R65H COADREAD 7 43351609 43351609 + Missense_Mutation SNP A A G TCGA-AA-3989-01A-01W-0995-10 TCGA-AA-3989-10A-01W-0999-10 g.chr7:43351609A>G c.275A>G c.(274-276)cAc>cGc p.H92R COADREAD 7 43360342 43360342 + Splice_Site SNP G G A TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr7:43360342G>A c.e5+1 COADREAD 7 43447190 43447190 + Missense_Mutation SNP A A G TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr7:43447190A>G c.661A>G c.(661-663)Atg>Gtg p.M221V COADREAD 7 43447193 43447193 + Missense_Mutation SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:43447193T>C c.664T>C c.(664-666)Ttt>Ctt p.F222L COADREAD 7 43447326 43447326 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr7:43447326C>T c.797C>T c.(796-798)gCc>gTc p.A266V COADREAD 7 43477604 43477604 + Silent SNP A A G TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr7:43477604A>G c.804A>G c.(802-804)caA>caG p.Q268Q COADREAD 7 43477673 43477673 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr7:43477673C>T c.873C>T c.(871-873)cgC>cgT p.R291R COADREAD 7 43483896 43483896 + Silent SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr7:43483896C>T c.1125C>T c.(1123-1125)agC>agT p.S375S COADREAD 7 43484180 43484180 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr7:43484180C>T c.1409C>T c.(1408-1410)gCa>gTa p.A470V COADREAD 7 43484411 43484411 + Missense_Mutation SNP C C T TCGA-AG-A020-01A-21W-A096-10 TCGA-AG-A020-11A-11W-A096-10 g.chr7:43484411C>T c.1640C>T c.(1639-1641)gCg>gTg p.A547V COADREAD 7 43484497 43484497 + Missense_Mutation SNP G G A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr7:43484497G>A c.1726G>A c.(1726-1728)Ggc>Agc p.G576S COADREAD 7 43484505 43484505 + Silent SNP G G A TCGA-G4-6306-01A-11D-1771-10 TCGA-G4-6306-10A-01D-1771-10 g.chr7:43484505G>A c.1734G>A c.(1732-1734)gcG>gcA p.A578A COADREAD 7 43484520 43484520 + Silent SNP C C T TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr7:43484520C>T c.1749C>T c.(1747-1749)gaC>gaT p.D583D COADREAD 7 43484556 43484556 + Silent SNP G G A TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr7:43484556G>A c.1785G>A c.(1783-1785)tcG>tcA p.S595S COADREAD 7 43484586 43484586 + Silent SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr7:43484586G>A c.1815G>A c.(1813-1815)acG>acA p.T605T COADREAD 7 43484716 43484716 + Missense_Mutation SNP G G A TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr7:43484716G>A c.1945G>A c.(1945-1947)Gac>Aac p.D649N COADREAD 7 43484745 43484745 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:43484745C>T c.1974C>T c.(1972-1974)agC>agT p.S658S COADREAD 7 43485075 43485075 + Silent SNP G G A TCGA-AA-3872-01A-01W-0995-10 TCGA-AA-3872-10A-01W-0995-10 g.chr7:43485075G>A c.2304G>A c.(2302-2304)ccG>ccA p.P768P COADREAD 7 43485092 43485092 + Missense_Mutation SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr7:43485092C>T c.2321C>T c.(2320-2322)gCc>gTc p.A774V COADREAD 7 43485148 43485148 + Missense_Mutation SNP G G A TCGA-AH-6544-01A-11D-1826-10 TCGA-AH-6544-10A-01D-1826-10 g.chr7:43485148G>A c.2377G>A c.(2377-2379)Ggt>Agt p.G793S COADREAD 7 43495895 43495895 + Splice_Site SNP G G C TCGA-AD-6901-01A-11D-1924-10 TCGA-AD-6901-10A-01D-1924-10 g.chr7:43495895G>C c.e13-1 COADREAD 7 43495909 43495909 + Silent SNP A A G TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr7:43495909A>G c.2514A>G c.(2512-2514)cgA>cgG p.R838R COADREAD 7 43495909 43495909 + Silent SNP A A G TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr7:43495909A>G c.2514A>G c.(2512-2514)cgA>cgG p.R838R COADREAD 7 43495920 43495920 + Missense_Mutation SNP A A G TCGA-AA-3502-01A-01D-1408-10 TCGA-AA-3502-11A-01D-1408-10 g.chr7:43495920A>G c.2525A>G c.(2524-2526)cAc>cGc p.H842R COADREAD 7 43495920 43495920 + Missense_Mutation SNP A A G TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr7:43495920A>G c.2525A>G c.(2524-2526)cAc>cGc p.H842R COADREAD 7 43495972 43495972 + Silent SNP T T C TCGA-A6-6651-01A-21D-1835-10 TCGA-A6-6651-10A-01D-1835-10 g.chr7:43495972T>C c.2577T>C c.(2575-2577)cgT>cgC p.R859R COADREAD 7 43503342 43503342 + Missense_Mutation SNP G G C TCGA-CM-6168-01A-11D-1650-10 TCGA-CM-6168-10A-01D-1650-10 g.chr7:43503342G>C c.2735G>C c.(2734-2736)gGa>gCa p.G912A COADREAD 7 43503349 43503349 + Silent SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr7:43503349C>T c.2742C>T c.(2740-2742)ggC>ggT p.G914G COADREAD 7 43503371 43503371 + Nonsense_Mutation SNP G G T TCGA-CM-6168-01A-11D-1650-10 TCGA-CM-6168-10A-01D-1650-10 g.chr7:43503371G>T c.2764G>T c.(2764-2766)Gaa>Taa p.E922* COADREAD 7 43508601 43508601 + Missense_Mutation SNP G G A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr7:43508601G>A c.2996G>A c.(2995-2997)cGc>cAc p.R999H COADREAD 7 43508615 43508615 + Missense_Mutation SNP C C T TCGA-DM-A1D7-01A-11D-A152-10 TCGA-DM-A1D7-10A-01D-A152-10 g.chr7:43508615C>T c.3010C>T c.(3010-3012)Cgg>Tgg p.R1004W COADREAD 7 43519212 43519212 + Missense_Mutation SNP T T G TCGA-AA-3511-01A-21D-1835-10 TCGA-AA-3511-11A-01D-1835-10 g.chr7:43519212T>G c.3103T>G c.(3103-3105)Ttt>Gtt p.F1035V COADREAD 7 43519324 43519324 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr7:43519324G>A c.3215G>A c.(3214-3216)cGa>cAa p.R1072Q COADREAD 7 43531697 43531697 + Silent SNP A A G TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr7:43531697A>G c.3258A>G c.(3256-3258)agA>agG p.R1086R COADREAD 7 43531726 43531726 + Missense_Mutation SNP A A G TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr7:43531726A>G c.3287A>G c.(3286-3288)cAc>cGc p.H1096R COADREAD 7 43532709 43532709 + Missense_Mutation SNP C C A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr7:43532709C>A c.3367C>A c.(3367-3369)Ctt>Att p.L1123I COADREAD 7 43540370 43540370 + Silent SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:43540370C>A c.3510C>A c.(3508-3510)gtC>gtA p.V1170V COADREAD 7 43546798 43546798 + Missense_Mutation SNP C C T TCGA-F4-6808-01A-11D-1835-10 TCGA-F4-6808-10A-01D-1835-10 g.chr7:43546798C>T c.3694C>T c.(3694-3696)Cgc>Tgc p.R1232C COADREAD 7 43547676 43547676 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:43547676C>T c.3812C>T c.(3811-3813)tCg>tTg p.S1271L COADREAD 7 43547679 43547679 + Missense_Mutation SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr7:43547679G>A c.3815G>A c.(3814-3816)cGg>cAg p.R1272Q COADREAD 7 43547684 43547684 + Missense_Mutation SNP G G A TCGA-CI-6624-01C-11D-1826-10 TCGA-CI-6624-10A-01D-1826-10 g.chr7:43547684G>A c.3820G>A c.(3820-3822)Gag>Aag p.E1274K COADREAD 7 43548589 43548589 + Silent SNP G G A TCGA-AA-A017-01A-01W-A00E-09 TCGA-AA-A017-10A-01W-A00E-09 g.chr7:43548589G>A c.3888G>A c.(3886-3888)tcG>tcA p.S1296S COADREAD 7 43548598 43548598 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:43548598C>A c.3897C>A c.(3895-3897)ttC>ttA p.F1299L COADREAD 7 43580825 43580825 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:43580825C>T c.4083C>T c.(4081-4083)ttC>ttT p.F1361F COADREAD 7 43581490 43581490 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:43581490G>T c.4141G>T c.(4141-4143)Gaa>Taa p.E1381* COADREAD 7 43581520 43581520 + Missense_Mutation SNP T T A TCGA-AZ-6605-01A-11D-1835-10 TCGA-AZ-6605-11A-01D-1835-10 g.chr7:43581520T>A c.4171T>A c.(4171-4173)Ttg>Atg p.L1391M COADREAD 7 43581520 43581520 + Silent SNP T T C TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr7:43581520T>C c.4171T>C c.(4171-4173)Ttg>Ctg p.L1391L COADREAD 7 43581520 43581520 + Silent SNP T T C TCGA-D5-5539-01A-01D-1650-10 TCGA-D5-5539-10A-01D-1650-10 g.chr7:43581520T>C c.4171T>C c.(4171-4173)Ttg>Ctg p.L1391L COADREAD 7 43581520 43581520 + Silent SNP T T C TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chr7:43581520T>C c.4171T>C c.(4171-4173)Ttg>Ctg p.L1391L COADREAD 7 43581521 43581521 + Missense_Mutation SNP T T C TCGA-AZ-4616-01A-21D-1835-10 TCGA-AZ-4616-10A-01D-1835-10 g.chr7:43581521T>C c.4172T>C c.(4171-4173)tTg>tCg p.L1391S COADREAD 7 43581521 43581521 + Missense_Mutation SNP T T C TCGA-EI-6510-01A-11D-1733-10 TCGA-EI-6510-10A-01D-1733-10 g.chr7:43581521T>C c.4172T>C c.(4171-4173)tTg>tCg p.L1391S COADREAD 7 43590187 43590187 + Silent SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr7:43590187C>T c.4392C>T c.(4390-4392)taC>taT p.Y1464Y COADREAD 7 43591888 43591888 + Missense_Mutation SNP C C T TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr7:43591888C>T c.4463C>T c.(4462-4464)gCg>gTg p.A1488V COADREAD 7 43591929 43591929 + Silent SNP C C A TCGA-AZ-5403-01A-01D-1650-10 TCGA-AZ-5403-10A-01D-1650-10 g.chr7:43591929C>A c.4504C>A c.(4504-4506)Cgg>Agg p.R1502R COADREAD 7 43591929 43591929 + Silent SNP C C A TCGA-DM-A28H-01A-11D-A16V-10 TCGA-DM-A28H-10A-01D-A16V-10 g.chr7:43591929C>A c.4504C>A c.(4504-4506)Cgg>Agg p.R1502R COADREAD 7 43591929 43591929 + Silent SNP C C A TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr7:43591929C>A c.4504C>A c.(4504-4506)Cgg>Agg p.R1502R COADREAD 7 43591930 43591930 + Missense_Mutation SNP G G A TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr7:43591930G>A c.4505G>A c.(4504-4506)cGg>cAg p.R1502Q COADREAD 7 43591930 43591930 + Missense_Mutation SNP G G A TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr7:43591930G>A c.4505G>A c.(4504-4506)cGg>cAg p.R1502Q COADREAD 7 43591930 43591930 + Missense_Mutation SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr7:43591930G>A c.4505G>A c.(4504-4506)cGg>cAg p.R1502Q COADREAD 7 43591930 43591930 + Missense_Mutation SNP G G A TCGA-D5-6539-01A-11D-1719-10 TCGA-D5-6539-10A-01D-1719-10 g.chr7:43591930G>A c.4505G>A c.(4504-4506)cGg>cAg p.R1502Q COADREAD 7 43591930 43591930 + Missense_Mutation SNP G G A TCGA-EI-6508-01A-11D-1733-10 TCGA-EI-6508-10A-01D-1733-10 g.chr7:43591930G>A c.4505G>A c.(4504-4506)cGg>cAg p.R1502Q COADREAD 7 43591930 43591930 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr7:43591930G>A c.4505G>A c.(4504-4506)cGg>cAg p.R1502Q COADREAD 7 43591930 43591930 + Missense_Mutation SNP G G C TCGA-AH-6549-01A-11D-1826-10 TCGA-AH-6549-10A-01D-1826-10 g.chr7:43591930G>C c.4505G>C c.(4504-4506)cGg>cCg p.R1502P COADREAD 7 43594234 43594234 + Silent SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr7:43594234G>A c.4554G>A c.(4552-4554)gcG>gcA p.A1518A COADREAD 7 43594242 43594242 + Missense_Mutation SNP G G A TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr7:43594242G>A c.4562G>A c.(4561-4563)cGc>cAc p.R1521H COADREAD 7 43594307 43594307 + Missense_Mutation SNP G G A TCGA-DM-A285-01A-11D-A16V-10 TCGA-DM-A285-10A-01D-A16V-10 g.chr7:43594307G>A c.4627G>A c.(4627-4629)Gaa>Aaa p.E1543K COADREAD 7 43601418 43601418 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr7:43601418C>T c.4714C>T c.(4714-4716)Cac>Tac p.H1572Y COADREAD 7 43601459 43601459 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr7:43601459G>A c.4755G>A c.(4753-4755)tcG>tcA p.S1585S DLBC 7 43283515 43283515 + Missense_Mutation SNP A A G TCGA-FF-8062-01A-11D-2210-10 TCGA-FF-8062-10A-01D-2210-10 g.chr7:43283515A>G c.11A>G c.(10-12)cAc>cGc p.H4R DLBC 7 43360271 43360271 + Missense_Mutation SNP C C A TCGA-FA-A7Q1-01A-11D-A382-10 TCGA-FA-A7Q1-10A-01D-A385-10 g.chr7:43360271C>A c.390C>A c.(388-390)aaC>aaA p.N130K DLBC 7 43506113 43506113 + Silent SNP A A C TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr7:43506113A>C c.2859A>C c.(2857-2859)ccA>ccC p.P953P DLBC 7 43547692 43547692 + Silent SNP G G A TCGA-G8-6907-01A-11D-2210-10 TCGA-G8-6907-14A-01D-2210-10 g.chr7:43547692G>A c.3828G>A c.(3826-3828)caG>caA p.Q1276Q ESCA 7 43351452 43351452 + Nonsense_Mutation SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 g.chr7:43351452C>T c.118C>T c.(118-120)Cga>Tga p.R40* ESCA 7 43360233 43360233 + Splice_Site SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 g.chr7:43360233G>T c.e5-1 ESCA 7 43447182 43447182 + Missense_Mutation SNP A A T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 g.chr7:43447182A>T c.653A>T c.(652-654)aAg>aTg p.K218M ESCA 7 43477632 43477632 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 g.chr7:43477632G>T c.832G>T c.(832-834)Gtg>Ttg p.V278L ESCA 7 43484922 43484922 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr7:43484922G>A c.2151G>A c.(2149-2151)acG>acA p.T717T ESCA 7 43503287 43503287 + Missense_Mutation SNP A A G TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 g.chr7:43503287A>G c.2680A>G c.(2680-2682)Aca>Gca p.T894A ESCA 7 43506045 43506045 + Splice_Site SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 g.chr7:43506045G>T c.e15-1 GBM 7 43351508 43351508 + Silent SNP C C T TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 g.chr7:43351508C>T c.174C>T c.(172-174)caC>caT p.H58H GBM 7 43360248 43360248 + Missense_Mutation SNP G G A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 g.chr7:43360248G>A c.367G>A c.(367-369)Gaa>Aaa p.E123K GBM 7 43360338 43360338 + Missense_Mutation SNP G G C TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 g.chr7:43360338G>C c.457G>C c.(457-459)Gaa>Caa p.E153Q GBM 7 43484236 43484236 + Nonsense_Mutation SNP G G T TCGA-41-3393-01A-01D-1353-08 TCGA-41-3393-10A-01D-1353-08 g.chr7:43484236G>T c.1465G>T c.(1465-1467)Gag>Tag p.E489* GBM 7 43484403 43484403 + Silent SNP G G A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 g.chr7:43484403G>A c.1632G>A c.(1630-1632)acG>acA p.T544T GBM 7 43485067 43485067 + Missense_Mutation SNP G G A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 g.chr7:43485067G>A c.2296G>A c.(2296-2298)Gct>Act p.A766T GBM 7 43485123 43485123 + Silent SNP G G A TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 g.chr7:43485123G>A c.2352G>A c.(2350-2352)ccG>ccA p.P784P GBM 7 43519279 43519279 + Missense_Mutation SNP G G A TCGA-06-0173-01A-01D-1491-08 TCGA-06-0173-10B-01D-1491-08 g.chr7:43519279G>A c.3170G>A c.(3169-3171)cGt>cAt p.R1057H GBMLGG 7 43351508 43351508 + Silent SNP C C T TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 g.chr7:43351508C>T c.174C>T c.(172-174)caC>caT p.H58H GBMLGG 7 43360248 43360248 + Missense_Mutation SNP G G A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 g.chr7:43360248G>A c.367G>A c.(367-369)Gaa>Aaa p.E123K GBMLGG 7 43360338 43360338 + Missense_Mutation SNP G G C TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 g.chr7:43360338G>C c.457G>C c.(457-459)Gaa>Caa p.E153Q GBMLGG 7 43477672 43477672 + Missense_Mutation SNP G G A TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 g.chr7:43477672G>A c.872G>A c.(871-873)cGc>cAc p.R291H GBMLGG 7 43483866 43483866 + Silent SNP G G A TCGA-DB-A64W-01A-11D-A29Q-08 TCGA-DB-A64W-10A-01D-A29Q-08 g.chr7:43483866G>A c.1095G>A c.(1093-1095)caG>caA p.Q365Q GBMLGG 7 43483896 43483896 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:43483896C>T c.1125C>T c.(1123-1125)agC>agT p.S375S GBMLGG 7 43484236 43484236 + Nonsense_Mutation SNP G G T TCGA-41-3393-01A-01D-1353-08 TCGA-41-3393-10A-01D-1353-08 g.chr7:43484236G>T c.1465G>T c.(1465-1467)Gag>Tag p.E489* GBMLGG 7 43484403 43484403 + Silent SNP G G A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 g.chr7:43484403G>A c.1632G>A c.(1630-1632)acG>acA p.T544T GBMLGG 7 43484733 43484733 + Silent SNP C C T TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr7:43484733C>T c.1962C>T c.(1960-1962)acC>acT p.T654T GBMLGG 7 43485067 43485067 + Missense_Mutation SNP G G A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 g.chr7:43485067G>A c.2296G>A c.(2296-2298)Gct>Act p.A766T GBMLGG 7 43485123 43485123 + Silent SNP G G A TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 g.chr7:43485123G>A c.2352G>A c.(2350-2352)ccG>ccA p.P784P GBMLGG 7 43508613 43508613 + Missense_Mutation SNP A A T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:43508613A>T c.3008A>T c.(3007-3009)aAc>aTc p.N1003I GBMLGG 7 43519258 43519258 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:43519258G>A c.3149G>A c.(3148-3150)cGa>cAa p.R1050Q GBMLGG 7 43519279 43519279 + Missense_Mutation SNP G G A TCGA-06-0173-01A-01D-1491-08 TCGA-06-0173-10B-01D-1491-08 g.chr7:43519279G>A c.3170G>A c.(3169-3171)cGt>cAt p.R1057H GBMLGG 7 43581598 43581598 + Splice_Site SNP G G C TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 g.chr7:43581598G>C c.e26+1 GBMLGG 7 43591856 43591856 + Silent SNP C C T TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 g.chr7:43591856C>T c.4431C>T c.(4429-4431)gcC>gcT p.A1477A HNSC 7 43400528 43400528 + Silent SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 g.chr7:43400528G>T c.504G>T c.(502-504)ggG>ggT p.G168G HNSC 7 43447198 43447198 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 g.chr7:43447198C>G c.669C>G c.(667-669)ttC>ttG p.F223L HNSC 7 43483921 43483921 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 g.chr7:43483921G>A c.1150G>A c.(1150-1152)Gca>Aca p.A384T HNSC 7 43484116 43484116 + Missense_Mutation SNP A A C TCGA-CV-6939-01A-11D-1912-08 TCGA-CV-6939-10A-01D-1912-08 g.chr7:43484116A>C c.1345A>C c.(1345-1347)Atc>Ctc p.I449L HNSC 7 43484379 43484379 + Silent SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr7:43484379C>T c.1608C>T c.(1606-1608)tcC>tcT p.S536S HNSC 7 43484409 43484409 + Silent SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr7:43484409C>T c.1638C>T c.(1636-1638)atC>atT p.I546I HNSC 7 43484716 43484716 + Missense_Mutation SNP G G A TCGA-CV-6959-01A-11D-1912-08 TCGA-CV-6959-10A-01D-1912-08 g.chr7:43484716G>A c.1945G>A c.(1945-1947)Gac>Aac p.D649N HNSC 7 43503399 43503399 + Splice_Site SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 g.chr7:43503399G>A c.e14+1 HNSC 7 43519258 43519258 + Missense_Mutation SNP G G A TCGA-CV-7446-01A-11D-2229-08 TCGA-CV-7446-10A-01D-2229-08 g.chr7:43519258G>A c.3149G>A c.(3148-3150)cGa>cAa p.R1050Q HNSC 7 43519316 43519316 + Silent SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 g.chr7:43519316G>A c.3207G>A c.(3205-3207)caG>caA p.Q1069Q HNSC 7 43531746 43531746 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 g.chr7:43531746C>G c.3307C>G c.(3307-3309)Cga>Gga p.R1103G HNSC 7 43546766 43546766 + Missense_Mutation SNP C C G TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr7:43546766C>G c.3662C>G c.(3661-3663)tCc>tGc p.S1221C HNSC 7 43581558 43581558 + Silent SNP A A G TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 g.chr7:43581558A>G c.4209A>G c.(4207-4209)ttA>ttG p.L1403L HNSC 7 43590145 43590145 + Silent SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 g.chr7:43590145C>T c.4350C>T c.(4348-4350)cgC>cgT p.R1450R HNSC 7 43591890 43591890 + Missense_Mutation SNP G G A TCGA-CQ-5326-01A-01D-1870-08 TCGA-CQ-5326-10A-01D-1870-08 g.chr7:43591890G>A c.4465G>A c.(4465-4467)Gaa>Aaa p.E1489K KIPAN 7 43351595 43351595 + Nonsense_Mutation SNP C C A TCGA-CZ-4865-01A-02D-1501-10 TCGA-CZ-4865-11A-01D-1501-10 g.chr7:43351595C>A c.261C>A c.(259-261)taC>taA p.Y87* KIPAN 7 43400541 43400541 + Missense_Mutation SNP A A T TCGA-BP-5008-01A-01D-1462-08 TCGA-BP-5008-11A-01D-1462-08 g.chr7:43400541A>T c.517A>T c.(517-519)Acc>Tcc p.T173S KIPAN 7 43484071 43484071 + Nonsense_Mutation SNP G G T TCGA-A3-3323-01A-01D-0966-08 TCGA-A3-3323-11A-01D-0966-08 g.chr7:43484071G>T c.1300G>T c.(1300-1302)Gga>Tga p.G434* KIPAN 7 43484075 43484075 + Missense_Mutation SNP C C A TCGA-PJ-A5Z8-01A-11D-A28G-10 TCGA-PJ-A5Z8-10A-01D-A28G-10 g.chr7:43484075C>A c.1304C>A c.(1303-1305)cCt>cAt p.P435H KIPAN 7 43484310 43484310 + Silent SNP T T C TCGA-CJ-4873-01A-01D-1373-10 TCGA-CJ-4873-11A-01D-1373-10 g.chr7:43484310T>C c.1539T>C c.(1537-1539)tcT>tcC p.S513S KIPAN 7 43485157 43485157 + Missense_Mutation SNP A A G TCGA-UZ-A9PV-01A-11D-A42J-10 TCGA-UZ-A9PV-10A-01D-A42M-10 g.chr7:43485157A>G c.2386A>G c.(2386-2388)Aat>Gat p.N796D KIPAN 7 43503283 43503283 + Silent SNP T T C TCGA-BP-4782-01A-02D-1421-08 TCGA-BP-4782-11A-01D-1421-08 g.chr7:43503283T>C c.2676T>C c.(2674-2676)atT>atC p.I892I KIPAN 7 43508701 43508701 + Frame_Shift_Del DEL A A - TCGA-A4-A48D-01A-11D-A25F-10 TCGA-A4-A48D-10A-01D-A25F-10 g.chr7:43508701delA c.3096delA c.(3094-3096)ggafs p.G1032fs KIPAN 7 43547666 43547672 + Frame_Shift_Del DEL ATGGCCT ATGGCCT - TCGA-F9-A97G-01A-11D-A382-10 TCGA-F9-A97G-10A-01D-A385-10 g.chr7:43547666_43547672delATGGCCT c.3802_3808delATGGCCT c.(3802-3810)atggcctatfs p.MAY1268fs KIPAN 7 43548639 43548639 + Missense_Mutation SNP G G T TCGA-A3-3387-01A-01D-1534-10 TCGA-A3-3387-11A-01D-1534-10 g.chr7:43548639G>T c.3938G>T c.(3937-3939)gGa>gTa p.G1313V KIRC 7 43351595 43351595 + Nonsense_Mutation SNP C C A TCGA-CZ-4865-01A-02D-1501-10 TCGA-CZ-4865-11A-01D-1501-10 g.chr7:43351595C>A c.261C>A c.(259-261)taC>taA p.Y87* KIRC 7 43400541 43400541 + Missense_Mutation SNP A A T TCGA-BP-5008-01A-01D-1462-08 TCGA-BP-5008-11A-01D-1462-08 g.chr7:43400541A>T c.517A>T c.(517-519)Acc>Tcc p.T173S KIRC 7 43484071 43484071 + Nonsense_Mutation SNP G G T TCGA-A3-3323-01A-01D-0966-08 TCGA-A3-3323-11A-01D-0966-08 g.chr7:43484071G>T c.1300G>T c.(1300-1302)Gga>Tga p.G434* KIRC 7 43484310 43484310 + Silent SNP T T C TCGA-CJ-4873-01A-01D-1373-10 TCGA-CJ-4873-11A-01D-1373-10 g.chr7:43484310T>C c.1539T>C c.(1537-1539)tcT>tcC p.S513S KIRC 7 43503283 43503283 + Silent SNP T T C TCGA-BP-4782-01A-02D-1421-08 TCGA-BP-4782-11A-01D-1421-08 g.chr7:43503283T>C c.2676T>C c.(2674-2676)atT>atC p.I892I KIRC 7 43548639 43548639 + Missense_Mutation SNP G G T TCGA-A3-3387-01A-01D-1534-10 TCGA-A3-3387-11A-01D-1534-10 g.chr7:43548639G>T c.3938G>T c.(3937-3939)gGa>gTa p.G1313V KIRP 7 43484075 43484075 + Missense_Mutation SNP C C A TCGA-PJ-A5Z8-01A-11D-A28G-10 TCGA-PJ-A5Z8-10A-01D-A28G-10 g.chr7:43484075C>A c.1304C>A c.(1303-1305)cCt>cAt p.P435H KIRP 7 43485157 43485157 + Missense_Mutation SNP A A G TCGA-UZ-A9PV-01A-11D-A42J-10 TCGA-UZ-A9PV-10A-01D-A42M-10 g.chr7:43485157A>G c.2386A>G c.(2386-2388)Aat>Gat p.N796D KIRP 7 43508701 43508701 + Frame_Shift_Del DEL A A - TCGA-A4-A48D-01A-11D-A25F-10 TCGA-A4-A48D-10A-01D-A25F-10 g.chr7:43508701delA c.3096delA c.(3094-3096)ggafs p.G1032fs KIRP 7 43547666 43547672 + Frame_Shift_Del DEL ATGGCCT ATGGCCT - TCGA-F9-A97G-01A-11D-A382-10 TCGA-F9-A97G-10A-01D-A385-10 g.chr7:43547666_43547672delATGGCCT c.3802_3808delATGGCCT c.(3802-3810)atggcctatfs p.MAY1268fs LAML 7 43547679 43547679 + Missense_Mutation SNP G G A TCGA-AB-2862-03B-01W-0728-08 TCGA-AB-2862-11B-01W-0729-08 g.chr7:43547679G>A c.3815G>A c.(3814-3816)cGg>cAg p.R1272Q LAML 7 43591889 43591889 + Silent SNP G G A TCGA-AB-2901-03A-01W-0733-08 TCGA-AB-2901-11A-01W-0732-08 g.chr7:43591889G>A c.4464G>A c.(4462-4464)gcG>gcA p.A1488A LAML 7 43601458 43601458 + Missense_Mutation SNP C C T TCGA-AB-2925-03A-01W-0732-08 TCGA-AB-2925-11A-01W-0732-08 g.chr7:43601458C>T c.4754C>T c.(4753-4755)tCg>tTg p.S1585L LGG 7 43477672 43477672 + Missense_Mutation SNP G G A TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 g.chr7:43477672G>A c.872G>A c.(871-873)cGc>cAc p.R291H LGG 7 43483866 43483866 + Silent SNP G G A TCGA-DB-A64W-01A-11D-A29Q-08 TCGA-DB-A64W-10A-01D-A29Q-08 g.chr7:43483866G>A c.1095G>A c.(1093-1095)caG>caA p.Q365Q LGG 7 43483896 43483896 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:43483896C>T c.1125C>T c.(1123-1125)agC>agT p.S375S LGG 7 43484733 43484733 + Silent SNP C C T TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr7:43484733C>T c.1962C>T c.(1960-1962)acC>acT p.T654T LGG 7 43508613 43508613 + Missense_Mutation SNP A A T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:43508613A>T c.3008A>T c.(3007-3009)aAc>aTc p.N1003I LGG 7 43519258 43519258 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:43519258G>A c.3149G>A c.(3148-3150)cGa>cAa p.R1050Q LGG 7 43581598 43581598 + Splice_Site SNP G G C TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 g.chr7:43581598G>C c.e26+1 LGG 7 43591856 43591856 + Silent SNP C C T TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 g.chr7:43591856C>T c.4431C>T c.(4429-4431)gcC>gcT p.A1477A LIHC 7 43447201 43447201 + Silent SNP C C T TCGA-DD-AAW0-01A-11D-A40R-10 TCGA-DD-AAW0-10A-01D-A40U-10 g.chr7:43447201C>T c.672C>T c.(670-672)aaC>aaT p.N224N LIHC 7 43484273 43484273 + Missense_Mutation SNP A A G TCGA-DD-A39V-01A-11D-A20W-10 TCGA-DD-A39V-11A-11D-A20W-10 g.chr7:43484273A>G c.1502A>G c.(1501-1503)gAa>gGa p.E501G LIHC 7 43484350 43484350 + Missense_Mutation SNP T T A TCGA-CC-A123-01A-11D-A12Z-10 TCGA-CC-A123-10A-01D-A12Z-10 g.chr7:43484350T>A c.1579T>A c.(1579-1581)Tcg>Acg p.S527T LIHC 7 43484350 43484350 + Missense_Mutation SNP T T A TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr7:43484350T>A c.1579T>A c.(1579-1581)Tcg>Acg p.S527T LIHC 7 43484497 43484497 + Frame_Shift_Del DEL G G - TCGA-CC-A7IH-01A-11D-A33K-10 TCGA-CC-A7IH-10A-01D-A33K-10 g.chr7:43484497delG c.1726delG c.(1726-1728)ggcfs p.G576fs LIHC 7 43484630 43484630 + Missense_Mutation SNP C C A TCGA-CC-A7IG-01A-11D-A33K-10 TCGA-CC-A7IG-10A-01D-A33K-10 g.chr7:43484630C>A c.1859C>A c.(1858-1860)cCc>cAc p.P620H LIHC 7 43484963 43484963 + Missense_Mutation SNP C C A TCGA-ED-A7PZ-01A-11D-A33Q-10 TCGA-ED-A7PZ-10A-01D-A33Q-10 g.chr7:43484963C>A c.2192C>A c.(2191-2193)aCg>aAg p.T731K LUAD 7 43283514 43283514 + Frame_Shift_Del DEL C C - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 g.chr7:43283514delC c.10delC c.(10-12)cacfs p.H4fs LUAD 7 43283518 43283518 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr7:43283518T>A c.14T>A c.(13-15)cTg>cAg p.L5Q LUAD 7 43351404 43351404 + Missense_Mutation SNP T T A TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr7:43351404T>A c.70T>A c.(70-72)Tct>Act p.S24T LUAD 7 43351470 43351470 + Missense_Mutation SNP G G T TCGA-55-7570-01A-11D-2036-08 TCGA-55-7570-10A-01D-2036-08 g.chr7:43351470G>T c.136G>T c.(136-138)Gac>Tac p.D46Y LUAD 7 43351506 43351507 + Frame_Shift_Ins INS - - T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr7:43351506_43351507insT c.172_173insT c.(172-174)cacfs p.H58fs LUAD 7 43351509 43351509 + Missense_Mutation SNP G G A TCGA-44-7660-01A-11D-2063-08 TCGA-44-7660-10A-01D-2063-08 g.chr7:43351509G>A c.175G>A c.(175-177)Gat>Aat p.D59N LUAD 7 43360233 43360233 + Splice_Site SNP G G A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 g.chr7:43360233G>A c.e5-1 LUAD 7 43360276 43360276 + Missense_Mutation SNP G G A TCGA-38-6178-01A-11D-1753-08 TCGA-38-6178-10A-01D-1753-08 g.chr7:43360276G>A c.395G>A c.(394-396)gGa>gAa p.G132E LUAD 7 43360276 43360276 + Missense_Mutation SNP G G A TCGA-44-A4SU-01A-11D-A24P-08 TCGA-44-A4SU-10A-01D-A24P-08 g.chr7:43360276G>A c.395G>A c.(394-396)gGa>gAa p.G132E LUAD 7 43360301 43360301 + Silent SNP G G A TCGA-38-6178-01A-11D-1753-08 TCGA-38-6178-10A-01D-1753-08 g.chr7:43360301G>A c.420G>A c.(418-420)caG>caA p.Q140Q LUAD 7 43400571 43400571 + Missense_Mutation SNP G G T TCGA-17-Z016-01A-01W-0746-08 TCGA-17-Z016-11A-01W-0746-08 g.chr7:43400571G>T c.547G>T c.(547-549)Gca>Tca p.A183S LUAD 7 43436451 43436451 + Silent SNP A A G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 g.chr7:43436451A>G c.594A>G c.(592-594)ggA>ggG p.G198G LUAD 7 43436462 43436462 + Missense_Mutation SNP G G C TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr7:43436462G>C c.605G>C c.(604-606)cGg>cCg p.R202P LUAD 7 43447277 43447277 + Nonsense_Mutation SNP G G T TCGA-55-8301-01A-11D-2284-08 TCGA-55-8301-10A-01D-2284-08 g.chr7:43447277G>T c.748G>T c.(748-750)Gag>Tag p.E250* LUAD 7 43447290 43447290 + Missense_Mutation SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 g.chr7:43447290A>T c.761A>T c.(760-762)aAg>aTg p.K254M LUAD 7 43447293 43447293 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 g.chr7:43447293T>A c.764T>A c.(763-765)aTc>aAc p.I255N LUAD 7 43447307 43447307 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 g.chr7:43447307G>T c.778G>T c.(778-780)Gtg>Ttg p.V260L LUAD 7 43477686 43477686 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr7:43477686C>A c.886C>A c.(886-888)Cgc>Agc p.R296S LUAD 7 43482219 43482219 + Missense_Mutation SNP A A T TCGA-17-Z030-01A-01W-0746-08 TCGA-17-Z030-11A-01W-0746-08 g.chr7:43482219A>T c.1036A>T c.(1036-1038)Atc>Ttc p.I346F LUAD 7 43483856 43483856 + Missense_Mutation SNP C C A TCGA-44-6778-01A-11D-1855-08 TCGA-44-6778-10A-01D-1855-08 g.chr7:43483856C>A c.1085C>A c.(1084-1086)gCc>gAc p.A362D LUAD 7 43483875 43483875 + Silent SNP C C A TCGA-55-8302-01A-11D-2323-08 TCGA-55-8302-10A-01D-2323-08 g.chr7:43483875C>A c.1104C>A c.(1102-1104)ccC>ccA p.P368P LUAD 7 43484000 43484000 + Missense_Mutation SNP T T C TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chr7:43484000T>C c.1229T>C c.(1228-1230)aTa>aCa p.I410T LUAD 7 43484004 43484004 + Silent SNP G G A TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr7:43484004G>A c.1233G>A c.(1231-1233)gaG>gaA p.E411E LUAD 7 43484068 43484068 + Missense_Mutation SNP G G A TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr7:43484068G>A c.1297G>A c.(1297-1299)Gtg>Atg p.V433M LUAD 7 43484130 43484130 + Silent SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr7:43484130C>G c.1359C>G c.(1357-1359)ccC>ccG p.P453P LUAD 7 43484237 43484237 + Missense_Mutation SNP A A G TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 g.chr7:43484237A>G c.1466A>G c.(1465-1467)gAg>gGg p.E489G LUAD 7 43484345 43484345 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr7:43484345G>T c.1574G>T c.(1573-1575)cGg>cTg p.R525L LUAD 7 43484383 43484383 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 g.chr7:43484383C>A c.1612C>A c.(1612-1614)Cct>Act p.P538T LUAD 7 43484399 43484399 + Missense_Mutation SNP A A T TCGA-95-7562-01A-11D-2238-08 TCGA-95-7562-10B-01D-2238-08 g.chr7:43484399A>T c.1628A>T c.(1627-1629)gAg>gTg p.E543V LUAD 7 43484422 43484422 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr7:43484422G>A c.1651G>A c.(1651-1653)Ggg>Agg p.G551R LUAD 7 43484469 43484469 + Silent SNP G G C TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 g.chr7:43484469G>C c.1698G>C c.(1696-1698)ctG>ctC p.L566L LUAD 7 43484503 43484503 + Missense_Mutation SNP G G A TCGA-75-7025-01A-12D-1945-08 TCGA-75-7025-10A-01D-1946-08 g.chr7:43484503G>A c.1732G>A c.(1732-1734)Gcg>Acg p.A578T LUAD 7 43484518 43484518 + Missense_Mutation SNP G G T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr7:43484518G>T c.1747G>T c.(1747-1749)Gac>Tac p.D583Y LUAD 7 43484530 43484530 + Nonsense_Mutation SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 g.chr7:43484530G>T c.1759G>T c.(1759-1761)Gag>Tag p.E587* LUAD 7 43484556 43484556 + Silent SNP G G A TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr7:43484556G>A c.1785G>A c.(1783-1785)tcG>tcA p.S595S LUAD 7 43484558 43484558 + Missense_Mutation SNP A A G TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr7:43484558A>G c.1787A>G c.(1786-1788)gAg>gGg p.E596G LUAD 7 43484586 43484586 + Silent SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr7:43484586G>A c.1815G>A c.(1813-1815)acG>acA p.T605T LUAD 7 43484591 43484591 + Missense_Mutation SNP C C A TCGA-O1-A52J-01A-11D-A25L-08 TCGA-O1-A52J-10A-01D-A25L-08 g.chr7:43484591C>A c.1820C>A c.(1819-1821)gCc>gAc p.A607D LUAD 7 43484721 43484721 + Silent SNP G G T TCGA-05-5428-01A-01D-1625-08 TCGA-05-5428-10A-01D-1625-08 g.chr7:43484721G>T c.1950G>T c.(1948-1950)acG>acT p.T650T LUAD 7 43484732 43484732 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 g.chr7:43484732C>A c.1961C>A c.(1960-1962)aCc>aAc p.T654N LUAD 7 43484767 43484767 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr7:43484767G>A c.1996G>A c.(1996-1998)Ggg>Agg p.G666R LUAD 7 43484791 43484791 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 g.chr7:43484791G>C c.2020G>C c.(2020-2022)Gac>Cac p.D674H LUAD 7 43484813 43484813 + Missense_Mutation SNP C C T TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr7:43484813C>T c.2042C>T c.(2041-2043)tCg>tTg p.S681L LUAD 7 43484944 43484944 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 g.chr7:43484944G>A c.2173G>A c.(2173-2175)Gcc>Acc p.A725T LUAD 7 43503272 43503272 + Missense_Mutation SNP C C A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 g.chr7:43503272C>A c.2665C>A c.(2665-2667)Cag>Aag p.Q889K LUAD 7 43503285 43503285 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr7:43503285C>A c.2678C>A c.(2677-2679)gCa>gAa p.A893E LUAD 7 43503287 43503287 + Missense_Mutation SNP A A G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 g.chr7:43503287A>G c.2680A>G c.(2680-2682)Aca>Gca p.T894A LUAD 7 43506055 43506055 + Missense_Mutation SNP G G T TCGA-17-Z010-01A-01W-0746-08 TCGA-17-Z010-11A-01W-0746-08 g.chr7:43506055G>T c.2801G>T c.(2800-2802)aGa>aTa p.R934I LUAD 7 43506115 43506115 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 g.chr7:43506115C>T c.2861C>T c.(2860-2862)gCg>gTg p.A954V LUAD 7 43506153 43506153 + Missense_Mutation SNP C C A TCGA-44-8117-01A-11D-2238-08 TCGA-44-8117-10A-01D-2238-08 g.chr7:43506153C>A c.2899C>A c.(2899-2901)Cta>Ata p.L967I LUAD 7 43508550 43508550 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr7:43508550G>T c.2945G>T c.(2944-2946)tGc>tTc p.C982F LUAD 7 43508580 43508580 + Missense_Mutation SNP G G T TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr7:43508580G>T c.2975G>T c.(2974-2976)cGg>cTg p.R992L LUAD 7 43508595 43508595 + Missense_Mutation SNP T T A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 g.chr7:43508595T>A c.2990T>A c.(2989-2991)tTt>tAt p.F997Y LUAD 7 43508597 43508597 + Nonsense_Mutation SNP G G T TCGA-05-5425-01A-02D-1625-08 TCGA-05-5425-10A-01D-1625-08 g.chr7:43508597G>T c.2992G>T c.(2992-2994)Gaa>Taa p.E998* LUAD 7 43519207 43519207 + Splice_Site SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 g.chr7:43519207A>G c.e17-1 LUAD 7 43519229 43519229 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr7:43519229C>T c.3120C>T c.(3118-3120)aaC>aaT p.N1040N LUAD 7 43531769 43531769 + Silent SNP A A G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 g.chr7:43531769A>G c.3330A>G c.(3328-3330)tcA>tcG p.S1110S LUAD 7 43540317 43540317 + Silent SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 g.chr7:43540317C>A c.3457C>A c.(3457-3459)Cgg>Agg p.R1153R LUAD 7 43540318 43540318 + Missense_Mutation SNP G G A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 g.chr7:43540318G>A c.3458G>A c.(3457-3459)cGg>cAg p.R1153Q LUAD 7 43540822 43540822 + Missense_Mutation SNP G G A TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr7:43540822G>A c.3532G>A c.(3532-3534)Gaa>Aaa p.E1178K LUAD 7 43546757 43546757 + Missense_Mutation SNP G G C TCGA-MN-A4N5-01A-11D-A24P-08 TCGA-MN-A4N5-10A-01D-A24P-08 g.chr7:43546757G>C c.3653G>C c.(3652-3654)aGa>aCa p.R1218T LUAD 7 43546842 43546842 + Silent SNP T T C TCGA-J2-A4AD-01A-11D-A24D-08 TCGA-J2-A4AD-10A-01D-A24F-08 g.chr7:43546842T>C c.3738T>C c.(3736-3738)ggT>ggC p.G1246G LUAD 7 43547716 43547716 + Missense_Mutation SNP T T A TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr7:43547716T>A c.3852T>A c.(3850-3852)ttT>ttA p.F1284L LUAD 7 43548590 43548590 + Missense_Mutation SNP C C T TCGA-55-8619-01A-11D-2393-08 TCGA-55-8619-10A-01D-2393-08 g.chr7:43548590C>T c.3889C>T c.(3889-3891)Cgg>Tgg p.R1297W LUAD 7 43548608 43548608 + Silent SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 g.chr7:43548608C>T c.3907C>T c.(3907-3909)Ctg>Ttg p.L1303L LUAD 7 43548638 43548638 + Nonsense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr7:43548638G>T c.3937G>T c.(3937-3939)Gga>Tga p.G1313* LUAD 7 43548674 43548674 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 g.chr7:43548674G>A c.3973G>A c.(3973-3975)Gtg>Atg p.V1325M LUAD 7 43581470 43581470 + Missense_Mutation SNP C C A TCGA-97-A4M7-01A-11D-A24P-08 TCGA-97-A4M7-10A-01D-A24P-08 g.chr7:43581470C>A c.4121C>A c.(4120-4122)cCc>cAc p.P1374H LUAD 7 43581559 43581559 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr7:43581559G>C c.4210G>C c.(4210-4212)Gac>Cac p.D1404H LUAD 7 43590049 43590049 + Silent SNP G G C TCGA-NJ-A4YF-01A-12D-A25L-08 TCGA-NJ-A4YF-10A-01D-A25L-08 g.chr7:43590049G>C c.4254G>C c.(4252-4254)acG>acC p.T1418T LUAD 7 43590133 43590133 + Nonsense_Mutation SNP G G A TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr7:43590133G>A c.4338G>A c.(4336-4338)tgG>tgA p.W1446* LUAD 7 43590134 43590134 + Silent SNP C C A TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr7:43590134C>A c.4339C>A c.(4339-4341)Cgg>Agg p.R1447R LUAD 7 43590144 43590144 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 g.chr7:43590144G>A c.4349G>A c.(4348-4350)cGc>cAc p.R1450H LUAD 7 43594194 43594194 + Missense_Mutation SNP A A T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 g.chr7:43594194A>T c.4514A>T c.(4513-4515)tAc>tTc p.Y1505F LUAD 7 43594285 43594285 + Silent SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 g.chr7:43594285G>A c.4605G>A c.(4603-4605)acG>acA p.T1535T LUAD 7 43594353 43594353 + Missense_Mutation SNP G G A TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr7:43594353G>A c.4673G>A c.(4672-4674)tGc>tAc p.C1558Y LUSC 7 43283525 43283525 + Missense_Mutation SNP T T A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 g.chr7:43283525T>A c.21T>A c.(19-21)agT>agA p.S7R LUSC 7 43351583 43351583 + Silent SNP C C A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 g.chr7:43351583C>A c.249C>A c.(247-249)gtC>gtA p.V83V LUSC 7 43400557 43400557 + Missense_Mutation SNP C C A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 g.chr7:43400557C>A c.533C>A c.(532-534)aCg>aAg p.T178K LUSC 7 43436457 43436457 + Silent SNP A A G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 g.chr7:43436457A>G c.600A>G c.(598-600)ggA>ggG p.G200G LUSC 7 43483903 43483903 + Frame_Shift_Del DEL G G - TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 g.chr7:43483903delG c.1132delG c.(1132-1134)gggfs p.G378fs LUSC 7 43484125 43484125 + Missense_Mutation SNP G G T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 g.chr7:43484125G>T c.1354G>T c.(1354-1356)Gcc>Tcc p.A452S LUSC 7 43484216 43484216 + Missense_Mutation SNP C C A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 g.chr7:43484216C>A c.1445C>A c.(1444-1446)aCc>aAc p.T482N LUSC 7 43484409 43484409 + Silent SNP C C A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 g.chr7:43484409C>A c.1638C>A c.(1636-1638)atC>atA p.I546I LUSC 7 43484785 43484785 + Missense_Mutation SNP G G T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 g.chr7:43484785G>T c.2014G>T c.(2014-2016)Ggc>Tgc p.G672C LUSC 7 43484986 43484986 + Nonsense_Mutation SNP G G T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 g.chr7:43484986G>T c.2215G>T c.(2215-2217)Gag>Tag p.E739* LUSC 7 43485045 43485045 + Silent SNP G G A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 g.chr7:43485045G>A c.2274G>A c.(2272-2274)ctG>ctA p.L758L LUSC 7 43485093 43485093 + Silent SNP C C A TCGA-66-2754-01A-01D-0983-08 TCGA-66-2754-11A-01D-0983-08 g.chr7:43485093C>A c.2322C>A c.(2320-2322)gcC>gcA p.A774A LUSC 7 43496007 43496007 + Missense_Mutation SNP G G C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 g.chr7:43496007G>C c.2612G>C c.(2611-2613)aGa>aCa p.R871T LUSC 7 43506060 43506060 + Missense_Mutation SNP G G A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 g.chr7:43506060G>A c.2806G>A c.(2806-2808)Ggg>Agg p.G936R LUSC 7 43506110 43506110 + Silent SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr7:43506110C>T c.2856C>T c.(2854-2856)tcC>tcT p.S952S LUSC 7 43506139 43506139 + Missense_Mutation SNP A A C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 g.chr7:43506139A>C c.2885A>C c.(2884-2886)gAg>gCg p.E962A LUSC 7 43519310 43519310 + Missense_Mutation SNP C C G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 g.chr7:43519310C>G c.3201C>G c.(3199-3201)caC>caG p.H1067Q LUSC 7 43546832 43546832 + Missense_Mutation SNP T T A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 g.chr7:43546832T>A c.3728T>A c.(3727-3729)tTt>tAt p.F1243Y LUSC 7 43547726 43547726 + Nonsense_Mutation SNP G G T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 g.chr7:43547726G>T c.3862G>T c.(3862-3864)Gag>Tag p.E1288* LUSC 7 43594213 43594213 + Silent SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr7:43594213G>A c.4533G>A c.(4531-4533)gtG>gtA p.V1511V LUSC 7 43594272 43594272 + Missense_Mutation SNP T T A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 g.chr7:43594272T>A c.4592T>A c.(4591-4593)cTg>cAg p.L1531Q OV 7 43484201 43484201 + Missense_Mutation SNP A A G TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 g.chr7:43484201A>G c.1430A>G c.(1429-1431)gAa>gGa p.E477G OV 7 43484247 43484247 + Silent SNP G G A TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 g.chr7:43484247G>A c.1476G>A c.(1474-1476)acG>acA p.T492T OV 7 43485101 43485123 + Frame_Shift_Del DEL GCGGGCACGTGGAAAGAAGCCCG GCGGGCACGTGGAAAGAAGCCCG - TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 g.chr7:43485101_43485123delGCGGGCACGTGGAAAGAAGCCCG c.2330_2352delGCGGGCACGTGGAAAGAAGCCCG c.(2329-2352)agcgggcacgtggaaagaagcccgfs p.SGHVERSP777fs OV 7 43495970 43495970 + Missense_Mutation SNP C C G TCGA-13-0904-01A-02W-0420-08 TCGA-13-0904-10A-01D-0399-08 g.chr7:43495970C>G c.2575C>G c.(2575-2577)Cgt>Ggt p.R859G OV 7 43532713 43532713 + Missense_Mutation SNP G G A TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 g.chr7:43532713G>A c.3371G>A c.(3370-3372)cGc>cAc p.R1124H OV 7 43546773 43546773 + Nonsense_Mutation SNP C C A TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 g.chr7:43546773C>A c.3669C>A c.(3667-3669)taC>taA p.Y1223* OV 7 43581522 43581522 + Silent SNP G G A TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 g.chr7:43581522G>A c.4173G>A c.(4171-4173)ttG>ttA p.L1391L OV 7 43590042 43590042 + Splice_Site SNP A A T TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 g.chr7:43590042A>T c.e27-1 OV 7 43590137 43590137 + Missense_Mutation SNP G G A TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 g.chr7:43590137G>A c.4342G>A c.(4342-4344)Gtg>Atg p.V1448M OV 7 43591887 43591887 + Missense_Mutation SNP G G A TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 g.chr7:43591887G>A c.4462G>A c.(4462-4464)Gcg>Acg p.A1488T PAAD 7 43351452 43351452 + Nonsense_Mutation SNP C C T TCGA-2L-AAQL-01A-11D-A38G-08 TCGA-2L-AAQL-11A-11D-A38J-08 g.chr7:43351452C>T c.118C>T c.(118-120)Cga>Tga p.R40* PAAD 7 43351558 43351558 + Missense_Mutation SNP C C T TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 g.chr7:43351558C>T c.224C>T c.(223-225)tCg>tTg p.S75L PAAD 7 43447240 43447240 + Silent SNP A A G TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 g.chr7:43447240A>G c.711A>G c.(709-711)aaA>aaG p.K237K PAAD 7 43483972 43483972 + Missense_Mutation SNP G G C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:43483972G>C c.1201G>C c.(1201-1203)Gtc>Ctc p.V401L PAAD 7 43484384 43484384 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:43484384C>A c.1613C>A c.(1612-1614)cCt>cAt p.P538H PAAD 7 43484438 43484438 + Missense_Mutation SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 g.chr7:43484438C>T c.1667C>T c.(1666-1668)cCg>cTg p.P556L PAAD 7 43484460 43484460 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:43484460C>T c.1689C>T c.(1687-1689)atC>atT p.I563I PAAD 7 43484703 43484703 + Silent SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 g.chr7:43484703G>A c.1932G>A c.(1930-1932)gcG>gcA p.A644A PAAD 7 43484963 43484963 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:43484963C>T c.2192C>T c.(2191-2193)aCg>aTg p.T731M PAAD 7 43490509 43490509 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:43490509C>T c.2481C>T c.(2479-2481)atC>atT p.I827I PAAD 7 43540839 43540839 + Silent SNP C C T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 g.chr7:43540839C>T c.3549C>T c.(3547-3549)taC>taT p.Y1183Y PAAD 7 43580819 43580819 + Silent SNP C C T TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 g.chr7:43580819C>T c.4077C>T c.(4075-4077)gaC>gaT p.D1359D PAAD 7 43590047 43590047 + Missense_Mutation SNP A A G TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 g.chr7:43590047A>G c.4252A>G c.(4252-4254)Acg>Gcg p.T1418A PAAD 7 43590119 43590119 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:43590119C>T c.4324C>T c.(4324-4326)Cgc>Tgc p.R1442C PRAD 7 43483842 43483842 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr7:43483842C>T c.1071C>T c.(1069-1071)acC>acT p.T357T PRAD 7 43484655 43484655 + Silent SNP G G A TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 g.chr7:43484655G>A c.1884G>A c.(1882-1884)gcG>gcA p.A628A PRAD 7 43484781 43484781 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr7:43484781C>T c.2010C>T c.(2008-2010)tgC>tgT p.C670C PRAD 7 43484982 43484982 + Silent SNP C C T TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 g.chr7:43484982C>T c.2211C>T c.(2209-2211)gaC>gaT p.D737D PRAD 7 43495935 43495935 + Missense_Mutation SNP A A T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 g.chr7:43495935A>T c.2540A>T c.(2539-2541)tAt>tTt p.Y847F PRAD 7 43540349 43540349 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr7:43540349G>A c.3489G>A c.(3487-3489)ttG>ttA p.L1163L PRAD 7 43546798 43546798 + Missense_Mutation SNP C C T TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 g.chr7:43546798C>T c.3694C>T c.(3694-3696)Cgc>Tgc p.R1232C READ 7 43484411 43484411 + Missense_Mutation SNP C C T TCGA-AG-A020-01A-21W-A096-10 TCGA-AG-A020-11A-11W-A096-10 g.chr7:43484411C>T c.1640C>T c.(1639-1641)gCg>gTg p.A547V READ 7 43485148 43485148 + Missense_Mutation SNP G G A TCGA-AH-6544-01A-11D-1826-10 TCGA-AH-6544-10A-01D-1826-10 g.chr7:43485148G>A c.2377G>A c.(2377-2379)Ggt>Agt p.G793S READ 7 43531697 43531697 + Silent SNP A A G TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr7:43531697A>G c.3258A>G c.(3256-3258)agA>agG p.R1086R READ 7 43532709 43532709 + Missense_Mutation SNP C C A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr7:43532709C>A c.3367C>A c.(3367-3369)Ctt>Att p.L1123I READ 7 43540370 43540370 + Silent SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:43540370C>A c.3510C>A c.(3508-3510)gtC>gtA p.V1170V READ 7 43547684 43547684 + Missense_Mutation SNP G G A TCGA-CI-6624-01C-11D-1826-10 TCGA-CI-6624-10A-01D-1826-10 g.chr7:43547684G>A c.3820G>A c.(3820-3822)Gag>Aag p.E1274K READ 7 43548598 43548598 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:43548598C>A c.3897C>A c.(3895-3897)ttC>ttA p.F1299L READ 7 43580825 43580825 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:43580825C>T c.4083C>T c.(4081-4083)ttC>ttT p.F1361F READ 7 43581490 43581490 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:43581490G>T c.4141G>T c.(4141-4143)Gaa>Taa p.E1381* READ 7 43581521 43581521 + Missense_Mutation SNP T T C TCGA-EI-6510-01A-11D-1733-10 TCGA-EI-6510-10A-01D-1733-10 g.chr7:43581521T>C c.4172T>C c.(4171-4173)tTg>tCg p.L1391S READ 7 43591929 43591929 + Silent SNP C C A TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr7:43591929C>A c.4504C>A c.(4504-4506)Cgg>Agg p.R1502R READ 7 43591930 43591930 + Missense_Mutation SNP G G A TCGA-EI-6508-01A-11D-1733-10 TCGA-EI-6508-10A-01D-1733-10 g.chr7:43591930G>A c.4505G>A c.(4504-4506)cGg>cAg p.R1502Q READ 7 43591930 43591930 + Missense_Mutation SNP G G C TCGA-AH-6549-01A-11D-1826-10 TCGA-AH-6549-10A-01D-1826-10 g.chr7:43591930G>C c.4505G>C c.(4504-4506)cGg>cCg p.R1502P SARC 7 43351444 43351444 + Missense_Mutation SNP A A G TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 g.chr7:43351444A>G c.110A>G c.(109-111)gAg>gGg p.E37G SKCM 7 43351401 43351401 + Missense_Mutation SNP G G A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 g.chr7:43351401G>A c.67G>A c.(67-69)Gcg>Acg p.A23T SKCM 7 43351432 43351432 + Missense_Mutation SNP G G C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr7:43351432G>C c.98G>C c.(97-99)cGc>cCc p.R33P SKCM 7 43351456 43351456 + Missense_Mutation SNP A A G TCGA-EB-A5SG-06A-11D-A30X-08 TCGA-EB-A5SG-10A-01D-A30X-08 g.chr7:43351456A>G c.122A>G c.(121-123)tAc>tGc p.Y41C SKCM 7 43351470 43351470 + Missense_Mutation SNP G G A TCGA-EE-A29Q-06A-11D-A197-08 TCGA-EE-A29Q-10A-01D-A199-08 g.chr7:43351470G>A c.136G>A c.(136-138)Gac>Aac p.D46N SKCM 7 43351512 43351512 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr7:43351512G>A c.178G>A c.(178-180)Ggc>Agc p.G60S SKCM 7 43351577 43351577 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:43351577C>T c.243C>T c.(241-243)ctC>ctT p.L81L SKCM 7 43351592 43351592 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr7:43351592C>T c.258C>T c.(256-258)tcC>tcT p.S86S SKCM 7 43351612 43351612 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:43351612C>T c.278C>T c.(277-279)tCt>tTt p.S93F SKCM 7 43360272 43360272 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr7:43360272C>T c.391C>T c.(391-393)Cgt>Tgt p.R131C SKCM 7 43436448 43436448 + Silent SNP A A G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr7:43436448A>G c.591A>G c.(589-591)caA>caG p.Q197Q SKCM 7 43436449 43436449 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 g.chr7:43436449G>A c.592G>A c.(592-594)Gga>Aga p.G198R SKCM 7 43436450 43436450 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr7:43436450G>A c.593G>A c.(592-594)gGa>gAa p.G198E SKCM 7 43436461 43436461 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 g.chr7:43436461C>T c.604C>T c.(604-606)Cgg>Tgg p.R202W SKCM 7 43447209 43447209 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr7:43447209C>T c.680C>T c.(679-681)cCt>cTt p.P227L SKCM 7 43447216 43447216 + Silent SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr7:43447216G>A c.687G>A c.(685-687)ctG>ctA p.L229L SKCM 7 43447229 43447229 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr7:43447229C>T c.700C>T c.(700-702)Cag>Tag p.Q234* SKCM 7 43447259 43447259 + Missense_Mutation SNP C C T TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr7:43447259C>T c.730C>T c.(730-732)Ctc>Ttc p.L244F SKCM 7 43477637 43477637 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 g.chr7:43477637G>A c.837G>A c.(835-837)ctG>ctA p.L279L SKCM 7 43477638 43477638 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 g.chr7:43477638G>A c.838G>A c.(838-840)Gaa>Aaa p.E280K SKCM 7 43483832 43483832 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr7:43483832C>T c.1061C>T c.(1060-1062)tCc>tTc p.S354F SKCM 7 43483963 43483963 + Missense_Mutation SNP G G A TCGA-D3-A3MU-06A-11D-A21A-08 TCGA-D3-A3MU-10A-01D-A21A-08 g.chr7:43483963G>A c.1192G>A c.(1192-1194)Gag>Aag p.E398K SKCM 7 43483976 43483976 + Missense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr7:43483976C>T c.1205C>T c.(1204-1206)cCc>cTc p.P402L SKCM 7 43483977 43483977 + Silent SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr7:43483977C>T c.1206C>T c.(1204-1206)ccC>ccT p.P402P SKCM 7 43484077 43484077 + Nonsense_Mutation SNP G G T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr7:43484077G>T c.1306G>T c.(1306-1308)Gaa>Taa p.E436* SKCM 7 43484094 43484094 + Silent SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr7:43484094C>T c.1323C>T c.(1321-1323)ctC>ctT p.L441L SKCM 7 43484247 43484247 + Silent SNP G G A TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr7:43484247G>A c.1476G>A c.(1474-1476)acG>acA p.T492T SKCM 7 43484268 43484268 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr7:43484268G>A c.1497G>A c.(1495-1497)agG>agA p.R499R SKCM 7 43484277 43484277 + Silent SNP G G A TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr7:43484277G>A c.1506G>A c.(1504-1506)gaG>gaA p.E502E SKCM 7 43484300 43484300 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr7:43484300G>A c.1529G>A c.(1528-1530)gGa>gAa p.G510E SKCM 7 43484424 43484424 + Silent SNP G G A TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr7:43484424G>A c.1653G>A c.(1651-1653)ggG>ggA p.G551G SKCM 7 43484484 43484484 + Silent SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr7:43484484C>T c.1713C>T c.(1711-1713)ccC>ccT p.P571P SKCM 7 43484569 43484569 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr7:43484569C>T c.1798C>T c.(1798-1800)Ctc>Ttc p.L600F SKCM 7 43484587 43484587 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 g.chr7:43484587G>A c.1816G>A c.(1816-1818)Gtg>Atg p.V606M SKCM 7 43484616 43484616 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr7:43484616G>A c.1845G>A c.(1843-1845)gaG>gaA p.E615E SKCM 7 43484616 43484616 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 g.chr7:43484616G>A c.1845G>A c.(1843-1845)gaG>gaA p.E615E SKCM 7 43484697 43484697 + Silent SNP T T C TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 g.chr7:43484697T>C c.1926T>C c.(1924-1926)aaT>aaC p.N642N SKCM 7 43484698 43484698 + Missense_Mutation SNP G G A TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr7:43484698G>A c.1927G>A c.(1927-1929)Ggc>Agc p.G643S SKCM 7 43484873 43484873 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr7:43484873C>T c.2102C>T c.(2101-2103)tCg>tTg p.S701L SKCM 7 43484894 43484894 + Missense_Mutation SNP A A C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr7:43484894A>C c.2123A>C c.(2122-2124)tAc>tCc p.Y708S SKCM 7 43484930 43484930 + Missense_Mutation SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr7:43484930C>T c.2159C>T c.(2158-2160)tCc>tTc p.S720F SKCM 7 43484933 43484933 + Missense_Mutation SNP C C T TCGA-EE-A2GH-06A-11D-A196-08 TCGA-EE-A2GH-10A-01D-A198-08 g.chr7:43484933C>T c.2162C>T c.(2161-2163)tCc>tTc p.S721F SKCM 7 43484956 43484956 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 g.chr7:43484956G>A c.2185G>A c.(2185-2187)Gag>Aag p.E729K SKCM 7 43484986 43484986 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr7:43484986G>A c.2215G>A c.(2215-2217)Gag>Aag p.E739K SKCM 7 43490510 43490510 + Missense_Mutation SNP G G A TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr7:43490510G>A c.2482G>A c.(2482-2484)Gat>Aat p.D828N SKCM 7 43495908 43495908 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr7:43495908G>A c.2513G>A c.(2512-2514)cGa>cAa p.R838Q SKCM 7 43495939 43495939 + Silent SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 g.chr7:43495939G>A c.2544G>A c.(2542-2544)gtG>gtA p.V848V SKCM 7 43496010 43496010 + Missense_Mutation SNP C C T TCGA-EE-A20F-06A-21D-A196-08 TCGA-EE-A20F-10A-01D-A198-08 g.chr7:43496010C>T c.2615C>T c.(2614-2616)tCg>tTg p.S872L SKCM 7 43503334 43503334 + Silent SNP C C T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 g.chr7:43503334C>T c.2727C>T c.(2725-2727)gcC>gcT p.A909A SKCM 7 43503335 43503335 + Missense_Mutation SNP C C T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 g.chr7:43503335C>T c.2728C>T c.(2728-2730)Cca>Tca p.P910S SKCM 7 43503375 43503375 + Missense_Mutation SNP C C T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 g.chr7:43503375C>T c.2768C>T c.(2767-2769)gCc>gTc p.A923V SKCM 7 43508545 43508545 + Silent SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr7:43508545C>T c.2940C>T c.(2938-2940)agC>agT p.S980S SKCM 7 43508575 43508575 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr7:43508575C>T c.2970C>T c.(2968-2970)gtC>gtT p.V990V SKCM 7 43508616 43508616 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr7:43508616G>A c.3011G>A c.(3010-3012)cGg>cAg p.R1004Q SKCM 7 43508655 43508655 + Missense_Mutation SNP G G A TCGA-ER-A19E-06A-11D-A197-08 TCGA-ER-A19E-10A-01D-A199-08 g.chr7:43508655G>A c.3050G>A c.(3049-3051)cGg>cAg p.R1017Q SKCM 7 43508659 43508659 + Silent SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr7:43508659G>A c.3054G>A c.(3052-3054)ctG>ctA p.L1018L SKCM 7 43519247 43519247 + Silent SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 g.chr7:43519247C>T c.3138C>T c.(3136-3138)ttC>ttT p.F1046F SKCM 7 43519254 43519254 + Missense_Mutation SNP C C T TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr7:43519254C>T c.3145C>T c.(3145-3147)Ccc>Tcc p.P1049S SKCM 7 43519324 43519324 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 g.chr7:43519324G>A c.3215G>A c.(3214-3216)cGa>cAa p.R1072Q SKCM 7 43532712 43532712 + Missense_Mutation SNP C C T TCGA-EE-A180-06A-11D-A21A-08 TCGA-EE-A180-10B-01D-A21A-08 g.chr7:43532712C>T c.3370C>T c.(3370-3372)Cgc>Tgc p.R1124C SKCM 7 43546817 43546817 + Missense_Mutation SNP T T G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr7:43546817T>G c.3713T>G c.(3712-3714)cTg>cGg p.L1238R SKCM 7 43546829 43546829 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr7:43546829G>A c.3725G>A c.(3724-3726)gGa>gAa p.G1242E SKCM 7 43547627 43547627 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 g.chr7:43547627C>T c.3763C>T c.(3763-3765)Cgc>Tgc p.R1255C SKCM 7 43547663 43547663 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 g.chr7:43547663G>A c.3799G>A c.(3799-3801)Gtg>Atg p.V1267M SKCM 7 43547680 43547680 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr7:43547680G>A c.3816G>A c.(3814-3816)cgG>cgA p.R1272R SKCM 7 43547729 43547729 + Splice_Site SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:43547729G>A c.3865G>A c.(3865-3867)Ggc>Agc p.G1289S SKCM 7 43580787 43580787 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr7:43580787G>A c.4045G>A c.(4045-4047)Ggt>Agt p.G1349S SKCM 7 43580801 43580801 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr7:43580801C>T c.4059C>T c.(4057-4059)atC>atT p.I1353I SKCM 7 43590049 43590049 + Silent SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr7:43590049G>A c.4254G>A c.(4252-4254)acG>acA p.T1418T SKCM 7 43591895 43591895 + Silent SNP C C T TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr7:43591895C>T c.4470C>T c.(4468-4470)atC>atT p.I1490I SKCM 7 43591931 43591931 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chr7:43591931G>A c.4506G>A c.(4504-4506)cgG>cgA p.R1502R SKCM 7 43594307 43594307 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:43594307G>A c.4627G>A c.(4627-4629)Gaa>Aaa p.E1543K SKCM 7 43594324 43594324 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 g.chr7:43594324C>T c.4644C>T c.(4642-4644)ctC>ctT p.L1548L SKCM 7 43594369 43594369 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:43594369G>A c.4689G>A c.(4687-4689)ggG>ggA p.G1563G

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 7 43506137 43506137 single base substitution C T synonymous_variant P927P 2781C>T ALL-US 7 43506137 43506137 single base substitution C T synonymous_variant P961P 2883C>T ALL-US 7 43590146 43590146 single base substitution G A missense_variant G1417S 4249G>A ALL-US 7 43590146 43590146 single base substitution G A missense_variant G1451S 4351G>A BLCA-CN 7 43436487 43436487 single base substitution A T splice_region_variant BLCA-CN 7 43484502 43484502 single base substitution C T downstream_gene_variant BLCA-CN 7 43484502 43484502 single base substitution C T synonymous_variant S577S 1731C>T BLCA-CN 7 43484575 43484575 single base substitution G A downstream_gene_variant BLCA-CN 7 43484575 43484575 single base substitution G A missense_variant E602K 1804G>A BLCA-US 7 43436489 43436489 single base substitution G C splice_donor_variant BLCA-US 7 43484652 43484652 single base substitution G A downstream_gene_variant BLCA-US 7 43484652 43484652 single base substitution G A synonymous_variant T627T 1881G>A BLCA-US 7 43484701 43484701 single base substitution G A downstream_gene_variant BLCA-US 7 43484701 43484701 single base substitution G A missense_variant A644T 1930G>A BLCA-US 7 43484767 43484767 single base substitution G A downstream_gene_variant BLCA-US 7 43484767 43484767 single base substitution G A missense_variant G666R 1996G>A BLCA-US 7 43503285 43503285 single base substitution C G missense_variant A859G 2576C>G BLCA-US 7 43503285 43503285 single base substitution C G missense_variant A893G 2678C>G BLCA-US 7 43532701 43532701 single base substitution T C intron_variant BLCA-US 7 43532701 43532701 single base substitution T C missense_variant V1086A 3257T>C BLCA-US 7 43532701 43532701 single base substitution T C missense_variant V1120A 3359T>C BLCA-US 7 43540819 43540819 single base substitution G A intron_variant BLCA-US 7 43540819 43540819 single base substitution G A missense_variant E1143K 3427G>A BLCA-US 7 43540819 43540819 single base substitution G A missense_variant E1177K 3529G>A BOCA-FR 7 43180260 43180260 single base substitution G A intron_variant BOCA-FR 7 43248716 43248716 single base substitution C A intron_variant BOCA-FR 7 43273524 43273524 single base substitution G C intron_variant BOCA-FR 7 43336314 43336314 single base substitution G A intron_variant BRCA-EU 7 43147362 43147362 single base substitution C T upstream_gene_variant BRCA-EU 7 43147777 43147778 deletion of <=200bp TT - upstream_gene_variant BRCA-EU 7 43149111 43149111 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 43149261 43149261 single base substitution C T upstream_gene_variant BRCA-EU 7 43151244 43151244 single base substitution G C upstream_gene_variant BRCA-EU 7 43154719 43154722 deletion of <=200bp GACA - intron_variant BRCA-EU 7 43156499 43156499 single base substitution G C intron_variant BRCA-EU 7 43156709 43156709 single base substitution T A intron_variant BRCA-EU 7 43157266 43157266 single base substitution A C intron_variant BRCA-EU 7 43157558 43157558 single base substitution A C intron_variant BRCA-EU 7 43157662 43157662 single base substitution G A intron_variant BRCA-EU 7 43157711 43157711 single base substitution C T intron_variant BRCA-EU 7 43159367 43159367 single base substitution C T intron_variant BRCA-EU 7 43159632 43159632 single base substitution G A intron_variant BRCA-EU 7 43160310 43160310 single base substitution T C intron_variant BRCA-EU 7 43160859 43160859 single base substitution G A intron_variant BRCA-EU 7 43160925 43160925 single base substitution G C intron_variant BRCA-EU 7 43161643 43161643 single base substitution C A intron_variant BRCA-EU 7 43161683 43161683 single base substitution C A intron_variant BRCA-EU 7 43162384 43162384 single base substitution C T intron_variant BRCA-EU 7 43162480 43162480 single base substitution T C intron_variant BRCA-EU 7 43163014 43163014 single base substitution G A intron_variant BRCA-EU 7 43163021 43163021 single base substitution C G intron_variant BRCA-EU 7 43163072 43163072 single base substitution C T intron_variant BRCA-EU 7 43163216 43163216 single base substitution A C intron_variant BRCA-EU 7 43163260 43163260 single base substitution G C intron_variant BRCA-EU 7 43163389 43163389 single base substitution C A intron_variant BRCA-EU 7 43163843 43163843 single base substitution A G intron_variant BRCA-EU 7 43164341 43164341 single base substitution C T intron_variant BRCA-EU 7 43165062 43165062 single base substitution G C intron_variant BRCA-EU 7 43166062 43166062 single base substitution G A intron_variant BRCA-EU 7 43166237 43166237 single base substitution T A intron_variant BRCA-EU 7 43167758 43167758 single base substitution C T intron_variant BRCA-EU 7 43169897 43169897 single base substitution T A intron_variant BRCA-EU 7 43170029 43170029 single base substitution T C intron_variant BRCA-EU 7 43170186 43170186 single base substitution A C intron_variant BRCA-EU 7 43170797 43170797 single base substitution G C intron_variant BRCA-EU 7 43171528 43171528 single base substitution G C intron_variant BRCA-EU 7 43173430 43173430 single base substitution C A intron_variant BRCA-EU 7 43174866 43174866 single base substitution G T intron_variant BRCA-EU 7 43175039 43175039 deletion of <=200bp A - intron_variant BRCA-EU 7 43175785 43175785 single base substitution C T intron_variant BRCA-EU 7 43175812 43175812 single base substitution G A intron_variant BRCA-EU 7 43176079 43176079 single base substitution C G intron_variant BRCA-EU 7 43176449 43176449 single base substitution G A intron_variant BRCA-EU 7 43177277 43177277 single base substitution T C intron_variant BRCA-EU 7 43177419 43177419 single base substitution G A intron_variant BRCA-EU 7 43178376 43178376 single base substitution T C intron_variant BRCA-EU 7 43178644 43178644 single base substitution G A intron_variant BRCA-EU 7 43179030 43179030 single base substitution C T intron_variant BRCA-EU 7 43179139 43179139 single base substitution A G intron_variant BRCA-EU 7 43179469 43179469 single base substitution C T intron_variant BRCA-EU 7 43179767 43179767 single base substitution A T intron_variant BRCA-EU 7 43181167 43181167 single base substitution C T intron_variant BRCA-EU 7 43181193 43181193 single base substitution G A intron_variant BRCA-EU 7 43181674 43181674 single base substitution T C intron_variant BRCA-EU 7 43181963 43181963 single base substitution C T intron_variant BRCA-EU 7 43182458 43182458 single base substitution G A intron_variant BRCA-EU 7 43183512 43183512 single base substitution C G intron_variant BRCA-EU 7 43183665 43183665 single base substitution C G intron_variant BRCA-EU 7 43185808 43185808 single base substitution C A intron_variant BRCA-EU 7 43186290 43186290 single base substitution G A intron_variant BRCA-EU 7 43187333 43187333 single base substitution A C intron_variant BRCA-EU 7 43189631 43189631 single base substitution G T intron_variant BRCA-EU 7 43189632 43189632 single base substitution C G intron_variant BRCA-EU 7 43189812 43189812 single base substitution A G intron_variant BRCA-EU 7 43190417 43190417 single base substitution G A intron_variant BRCA-EU 7 43191037 43191037 single base substitution G C intron_variant BRCA-EU 7 43191057 43191057 single base substitution G T intron_variant BRCA-EU 7 43191594 43191594 insertion of <=200bp - A intron_variant BRCA-EU 7 43191720 43191720 single base substitution T A intron_variant BRCA-EU 7 43191747 43191747 single base substitution A G intron_variant BRCA-EU 7 43193247 43193247 single base substitution C A intron_variant BRCA-EU 7 43196311 43196311 single base substitution C T intron_variant BRCA-EU 7 43196974 43196974 single base substitution A C intron_variant BRCA-EU 7 43197242 43197242 single base substitution C G intron_variant BRCA-EU 7 43198854 43198854 single base substitution A G intron_variant BRCA-EU 7 43199508 43199508 single base substitution G C intron_variant BRCA-EU 7 43199933 43199933 single base substitution C T intron_variant BRCA-EU 7 43199938 43199938 single base substitution C A intron_variant BRCA-EU 7 43200427 43200427 single base substitution T G intron_variant BRCA-EU 7 43200484 43200484 single base substitution C G intron_variant BRCA-EU 7 43200700 43200700 single base substitution A T intron_variant BRCA-EU 7 43202991 43202991 single base substitution G A intron_variant BRCA-EU 7 43204235 43204235 single base substitution C A intron_variant BRCA-EU 7 43205284 43205284 deletion of <=200bp T - intron_variant BRCA-EU 7 43206241 43206241 single base substitution C T intron_variant BRCA-EU 7 43206580 43206580 single base substitution C T intron_variant BRCA-EU 7 43207015 43207015 single base substitution T C intron_variant BRCA-EU 7 43207280 43207280 single base substitution C T intron_variant BRCA-EU 7 43208078 43208078 single base substitution G A intron_variant BRCA-EU 7 43210934 43210934 single base substitution G A intron_variant BRCA-EU 7 43211449 43211449 single base substitution C G intron_variant BRCA-EU 7 43211850 43211850 single base substitution G A intron_variant BRCA-EU 7 43212377 43212377 single base substitution G C intron_variant BRCA-EU 7 43214833 43214833 single base substitution C A intron_variant BRCA-EU 7 43214833 43214833 single base substitution C T intron_variant BRCA-EU 7 43215089 43215089 single base substitution C T intron_variant BRCA-EU 7 43215158 43215158 single base substitution G T intron_variant BRCA-EU 7 43215874 43215874 single base substitution G T intron_variant BRCA-EU 7 43216137 43216137 single base substitution G T intron_variant BRCA-EU 7 43216558 43216558 single base substitution G C intron_variant BRCA-EU 7 43217520 43217520 single base substitution C A intron_variant BRCA-EU 7 43219148 43219148 single base substitution C T intron_variant BRCA-EU 7 43219935 43219935 single base substitution C A intron_variant BRCA-EU 7 43221653 43221653 single base substitution G A intron_variant BRCA-EU 7 43222088 43222088 single base substitution G C intron_variant BRCA-EU 7 43224177 43224177 single base substitution G T intron_variant BRCA-EU 7 43224267 43224267 single base substitution C A intron_variant BRCA-EU 7 43224591 43224591 single base substitution G A intron_variant BRCA-EU 7 43225325 43225325 single base substitution T C intron_variant BRCA-EU 7 43226774 43226774 single base substitution G T intron_variant BRCA-EU 7 43227880 43227880 single base substitution G C intron_variant BRCA-EU 7 43227900 43227900 single base substitution A G intron_variant BRCA-EU 7 43228922 43228922 single base substitution G A intron_variant BRCA-EU 7 43229003 43229003 single base substitution G A intron_variant BRCA-EU 7 43230101 43230101 single base substitution C G intron_variant BRCA-EU 7 43231015 43231015 single base substitution G A intron_variant BRCA-EU 7 43231925 43231925 single base substitution T C intron_variant BRCA-EU 7 43232990 43232990 deletion of <=200bp T - intron_variant BRCA-EU 7 43233295 43233295 single base substitution C G intron_variant BRCA-EU 7 43236346 43236346 single base substitution A T intron_variant BRCA-EU 7 43236497 43236497 single base substitution T G intron_variant BRCA-EU 7 43236809 43236809 deletion of <=200bp A - intron_variant BRCA-EU 7 43237023 43237023 single base substitution C T intron_variant BRCA-EU 7 43237278 43237278 single base substitution G A intron_variant BRCA-EU 7 43237582 43237582 single base substitution C A intron_variant BRCA-EU 7 43239154 43239154 single base substitution A G intron_variant BRCA-EU 7 43239202 43239202 single base substitution G A intron_variant BRCA-EU 7 43240411 43240411 single base substitution G A intron_variant BRCA-EU 7 43240478 43240478 single base substitution C T intron_variant BRCA-EU 7 43242207 43242207 single base substitution G C intron_variant BRCA-EU 7 43242295 43242295 single base substitution C T intron_variant BRCA-EU 7 43242328 43242328 single base substitution G C intron_variant BRCA-EU 7 43243568 43243568 single base substitution A T intron_variant BRCA-EU 7 43243595 43243595 single base substitution G C intron_variant BRCA-EU 7 43243945 43243945 single base substitution C T intron_variant BRCA-EU 7 43244061 43244061 single base substitution C T intron_variant BRCA-EU 7 43244619 43244619 single base substitution C G intron_variant BRCA-EU 7 43246014 43246014 deletion of <=200bp T - intron_variant BRCA-EU 7 43247678 43247678 single base substitution T G intron_variant BRCA-EU 7 43249249 43249249 single base substitution A T intron_variant BRCA-EU 7 43250657 43250657 single base substitution G C intron_variant BRCA-EU 7 43250882 43250882 single base substitution T C intron_variant BRCA-EU 7 43251700 43251700 single base substitution C A intron_variant BRCA-EU 7 43252600 43252600 single base substitution A G intron_variant BRCA-EU 7 43252909 43252909 insertion of <=200bp - T intron_variant BRCA-EU 7 43253026 43253026 single base substitution G A intron_variant BRCA-EU 7 43253190 43253190 single base substitution G A intron_variant BRCA-EU 7 43253329 43253329 single base substitution C A intron_variant BRCA-EU 7 43254790 43254790 single base substitution C T intron_variant BRCA-EU 7 43255359 43255359 single base substitution G A intron_variant BRCA-EU 7 43255389 43255389 single base substitution T G intron_variant BRCA-EU 7 43257094 43257094 single base substitution T G intron_variant BRCA-EU 7 43258186 43258186 single base substitution G A intron_variant BRCA-EU 7 43258427 43258427 single base substitution G C intron_variant BRCA-EU 7 43258882 43258882 single base substitution C T intron_variant BRCA-EU 7 43261246 43261246 single base substitution G A intron_variant BRCA-EU 7 43261379 43261379 single base substitution C T intron_variant BRCA-EU 7 43262531 43262531 single base substitution A G intron_variant BRCA-EU 7 43263301 43263301 single base substitution G C intron_variant BRCA-EU 7 43263417 43263417 single base substitution C G intron_variant BRCA-EU 7 43264033 43264033 single base substitution G C intron_variant BRCA-EU 7 43264158 43264158 single base substitution G A intron_variant BRCA-EU 7 43264681 43264681 single base substitution G C intron_variant BRCA-EU 7 43265158 43265158 single base substitution T A intron_variant BRCA-EU 7 43266287 43266287 single base substitution G C intron_variant BRCA-EU 7 43268703 43268703 single base substitution G T intron_variant BRCA-EU 7 43270465 43270465 single base substitution C T intron_variant BRCA-EU 7 43272882 43272882 single base substitution T C intron_variant BRCA-EU 7 43273126 43273126 single base substitution G T intron_variant BRCA-EU 7 43273240 43273240 single base substitution G A intron_variant BRCA-EU 7 43274618 43274618 single base substitution C A intron_variant BRCA-EU 7 43275230 43275230 single base substitution T G intron_variant BRCA-EU 7 43275347 43275347 single base substitution G A intron_variant BRCA-EU 7 43275920 43275920 deletion of <=200bp G - intron_variant BRCA-EU 7 43275930 43275930 single base substitution A G intron_variant BRCA-EU 7 43276590 43276590 deletion of <=200bp A - intron_variant BRCA-EU 7 43276599 43276599 single base substitution C A intron_variant BRCA-EU 7 43276844 43276844 single base substitution G C intron_variant BRCA-EU 7 43278385 43278385 deletion of <=200bp T - intron_variant BRCA-EU 7 43279266 43279266 single base substitution G A intron_variant BRCA-EU 7 43279529 43279529 single base substitution C G intron_variant BRCA-EU 7 43279732 43279732 single base substitution G C intron_variant BRCA-EU 7 43280764 43280764 single base substitution T C intron_variant BRCA-EU 7 43281671 43281671 single base substitution A C intron_variant BRCA-EU 7 43282621 43282621 single base substitution C A intron_variant BRCA-EU 7 43282699 43282699 single base substitution C T intron_variant BRCA-EU 7 43282792 43282792 single base substitution T C intron_variant BRCA-EU 7 43282916 43282916 single base substitution A C intron_variant BRCA-EU 7 43282940 43282940 single base substitution C T intron_variant BRCA-EU 7 43282990 43282990 single base substitution G C intron_variant BRCA-EU 7 43283149 43283149 single base substitution T G intron_variant BRCA-EU 7 43283294 43283294 single base substitution T A intron_variant BRCA-EU 7 43283294 43283294 single base substitution T A upstream_gene_variant BRCA-EU 7 43284129 43284129 single base substitution G A intron_variant BRCA-EU 7 43284129 43284129 single base substitution G A upstream_gene_variant BRCA-EU 7 43284349 43284349 single base substitution G T intron_variant BRCA-EU 7 43284349 43284349 single base substitution G T upstream_gene_variant BRCA-EU 7 43284435 43284435 single base substitution A C intron_variant BRCA-EU 7 43284435 43284435 single base substitution A C upstream_gene_variant BRCA-EU 7 43284495 43284495 single base substitution G T intron_variant BRCA-EU 7 43284495 43284495 single base substitution G T upstream_gene_variant BRCA-EU 7 43286773 43286773 single base substitution T C intron_variant BRCA-EU 7 43286773 43286773 single base substitution T C upstream_gene_variant BRCA-EU 7 43287313 43287313 single base substitution G A intron_variant BRCA-EU 7 43287313 43287313 single base substitution G A upstream_gene_variant BRCA-EU 7 43287344 43287344 single base substitution G A intron_variant BRCA-EU 7 43287344 43287344 single base substitution G A upstream_gene_variant BRCA-EU 7 43290147 43290147 single base substitution G A intron_variant BRCA-EU 7 43290271 43290271 single base substitution C G intron_variant BRCA-EU 7 43290548 43290548 single base substitution T A intron_variant BRCA-EU 7 43291553 43291553 insertion of <=200bp - G intron_variant BRCA-EU 7 43291873 43291876 deletion of <=200bp CAGT - intron_variant BRCA-EU 7 43292293 43292293 single base substitution T G intron_variant BRCA-EU 7 43292869 43292869 single base substitution C T intron_variant BRCA-EU 7 43293127 43293127 single base substitution G C intron_variant BRCA-EU 7 43293147 43293147 single base substitution G C intron_variant BRCA-EU 7 43293722 43293722 single base substitution G T intron_variant BRCA-EU 7 43293974 43293974 single base substitution T A intron_variant BRCA-EU 7 43295008 43295008 single base substitution G A intron_variant BRCA-EU 7 43295655 43295655 single base substitution G T intron_variant BRCA-EU 7 43296263 43296263 single base substitution A T intron_variant BRCA-EU 7 43296545 43296545 single base substitution A G intron_variant BRCA-EU 7 43297835 43297835 single base substitution G A intron_variant BRCA-EU 7 43297836 43297836 single base substitution G A intron_variant BRCA-EU 7 43297917 43297917 single base substitution G T intron_variant BRCA-EU 7 43298181 43298181 single base substitution C T exon_variant BRCA-EU 7 43298181 43298181 single base substitution C T intron_variant BRCA-EU 7 43298783 43298783 single base substitution C T downstream_gene_variant BRCA-EU 7 43298783 43298783 single base substitution C T intron_variant BRCA-EU 7 43299346 43299346 single base substitution G T downstream_gene_variant BRCA-EU 7 43299346 43299346 single base substitution G T intron_variant BRCA-EU 7 43300329 43300330 deletion of <=200bp AT - downstream_gene_variant BRCA-EU 7 43300329 43300330 deletion of <=200bp AT - intron_variant BRCA-EU 7 43301055 43301055 single base substitution A C downstream_gene_variant BRCA-EU 7 43301055 43301055 single base substitution A C intron_variant BRCA-EU 7 43302746 43302764 deletion of <=200bp AAATTGTTATTTTTCTCAG - downstream_gene_variant BRCA-EU 7 43302746 43302764 deletion of <=200bp AAATTGTTATTTTTCTCAG - intron_variant BRCA-EU 7 43302876 43302876 single base substitution A G downstream_gene_variant BRCA-EU 7 43302876 43302876 single base substitution A G intron_variant BRCA-EU 7 43303249 43303249 single base substitution C T downstream_gene_variant BRCA-EU 7 43303249 43303249 single base substitution C T intron_variant BRCA-EU 7 43305495 43305495 single base substitution A C intron_variant BRCA-EU 7 43305549 43305549 deletion of <=200bp A - intron_variant BRCA-EU 7 43305947 43305947 deletion of <=200bp T - intron_variant BRCA-EU 7 43307128 43307129 deletion of <=200bp AA - intron_variant BRCA-EU 7 43309561 43309561 single base substitution C T intron_variant BRCA-EU 7 43310491 43310491 single base substitution A G intron_variant BRCA-EU 7 43310550 43310550 single base substitution A C intron_variant BRCA-EU 7 43312403 43312403 single base substitution C T intron_variant BRCA-EU 7 43312448 43312448 single base substitution A G intron_variant BRCA-EU 7 43315161 43315161 single base substitution A T intron_variant BRCA-EU 7 43315693 43315693 single base substitution G C intron_variant BRCA-EU 7 43316894 43316894 single base substitution A G intron_variant BRCA-EU 7 43318889 43318889 deletion of <=200bp T - intron_variant BRCA-EU 7 43318966 43318966 single base substitution C T intron_variant BRCA-EU 7 43319048 43319048 single base substitution T A intron_variant BRCA-EU 7 43319385 43319385 single base substitution T C intron_variant BRCA-EU 7 43319628 43319628 single base substitution G A intron_variant BRCA-EU 7 43319666 43319666 single base substitution G C intron_variant BRCA-EU 7 43319830 43319830 single base substitution G T intron_variant BRCA-EU 7 43319887 43319887 single base substitution T C intron_variant BRCA-EU 7 43319910 43319910 single base substitution A G intron_variant BRCA-EU 7 43320129 43320129 single base substitution G A intron_variant BRCA-EU 7 43320423 43320423 single base substitution A G intron_variant BRCA-EU 7 43321195 43321195 single base substitution G C intron_variant BRCA-EU 7 43322948 43322948 single base substitution G A intron_variant BRCA-EU 7 43323770 43323770 single base substitution G A intron_variant BRCA-EU 7 43323945 43323945 deletion of <=200bp T - intron_variant BRCA-EU 7 43324387 43324387 deletion of <=200bp C - intron_variant BRCA-EU 7 43324530 43324530 single base substitution G C intron_variant BRCA-EU 7 43325040 43325040 single base substitution G A intron_variant BRCA-EU 7 43325094 43325094 single base substitution C A intron_variant BRCA-EU 7 43325129 43325129 single base substitution G C intron_variant BRCA-EU 7 43325260 43325260 single base substitution A G intron_variant BRCA-EU 7 43325368 43325368 single base substitution G C intron_variant BRCA-EU 7 43325886 43325886 single base substitution A G intron_variant BRCA-EU 7 43325998 43325998 single base substitution G A intron_variant BRCA-EU 7 43326895 43326895 single base substitution G A intron_variant BRCA-EU 7 43327079 43327079 single base substitution T A intron_variant BRCA-EU 7 43327541 43327541 single base substitution G T intron_variant BRCA-EU 7 43329528 43329528 single base substitution G T intron_variant BRCA-EU 7 43330646 43330646 deletion of <=200bp G - intron_variant BRCA-EU 7 43330852 43330852 single base substitution A G intron_variant BRCA-EU 7 43331009 43331009 single base substitution G T intron_variant BRCA-EU 7 43331893 43331893 single base substitution G A intron_variant BRCA-EU 7 43332212 43332212 single base substitution A G intron_variant BRCA-EU 7 43332355 43332355 single base substitution G C intron_variant BRCA-EU 7 43332426 43332426 single base substitution G C intron_variant BRCA-EU 7 43332473 43332473 single base substitution G C intron_variant BRCA-EU 7 43332600 43332600 single base substitution G C intron_variant BRCA-EU 7 43332603 43332603 single base substitution C A intron_variant BRCA-EU 7 43332800 43332800 single base substitution C T intron_variant BRCA-EU 7 43333410 43333410 single base substitution G A intron_variant BRCA-EU 7 43333619 43333619 single base substitution A C intron_variant BRCA-EU 7 43333809 43333809 single base substitution A G intron_variant BRCA-EU 7 43334307 43334307 single base substitution G A intron_variant BRCA-EU 7 43335267 43335267 single base substitution C T intron_variant BRCA-EU 7 43336525 43336525 single base substitution C A intron_variant BRCA-EU 7 43337316 43337316 single base substitution G T intron_variant BRCA-EU 7 43337686 43337686 deletion of <=200bp A - intron_variant BRCA-EU 7 43337889 43337889 single base substitution C T intron_variant BRCA-EU 7 43339083 43339083 single base substitution T C intron_variant BRCA-EU 7 43341264 43341264 single base substitution G C intron_variant BRCA-EU 7 43341487 43341487 single base substitution A G intron_variant BRCA-EU 7 43341506 43341506 single base substitution A G intron_variant BRCA-EU 7 43342092 43342092 single base substitution G A intron_variant BRCA-EU 7 43342132 43342132 single base substitution C A intron_variant BRCA-EU 7 43342180 43342180 single base substitution T A intron_variant BRCA-EU 7 43343016 43343016 insertion of <=200bp - T intron_variant BRCA-EU 7 43343064 43343064 single base substitution C G intron_variant BRCA-EU 7 43343396 43343396 single base substitution C G intron_variant BRCA-EU 7 43344323 43344323 single base substitution C T intron_variant BRCA-EU 7 43344473 43344473 single base substitution G A intron_variant BRCA-EU 7 43346314 43346314 single base substitution G C intron_variant BRCA-EU 7 43346786 43346786 single base substitution C T intron_variant BRCA-EU 7 43348274 43348274 single base substitution G T intron_variant BRCA-EU 7 43348610 43348610 single base substitution T C intron_variant BRCA-EU 7 43349440 43349440 single base substitution C T intron_variant BRCA-EU 7 43349790 43349790 single base substitution A C intron_variant BRCA-EU 7 43350460 43350460 single base substitution T G intron_variant BRCA-EU 7 43351816 43351816 single base substitution G A downstream_gene_variant BRCA-EU 7 43351816 43351816 single base substitution G A intron_variant BRCA-EU 7 43351882 43351882 single base substitution C A downstream_gene_variant BRCA-EU 7 43351882 43351882 single base substitution C A intron_variant BRCA-EU 7 43352196 43352196 single base substitution T C downstream_gene_variant BRCA-EU 7 43352196 43352196 single base substitution T C intron_variant BRCA-EU 7 43352863 43352863 insertion of <=200bp - A downstream_gene_variant BRCA-EU 7 43352863 43352863 insertion of <=200bp - A intron_variant BRCA-EU 7 43353302 43353302 single base substitution A T downstream_gene_variant BRCA-EU 7 43353302 43353302 single base substitution A T intron_variant BRCA-EU 7 43355127 43355127 single base substitution C G downstream_gene_variant BRCA-EU 7 43355127 43355127 single base substitution C G intron_variant BRCA-EU 7 43355386 43355386 single base substitution C T downstream_gene_variant BRCA-EU 7 43355386 43355386 single base substitution C T intron_variant BRCA-EU 7 43355564 43355564 single base substitution C A downstream_gene_variant BRCA-EU 7 43355564 43355564 single base substitution C A intron_variant BRCA-EU 7 43357781 43357781 single base substitution C T intron_variant BRCA-EU 7 43357984 43357984 single base substitution C A intron_variant BRCA-EU 7 43358502 43358502 single base substitution A T intron_variant BRCA-EU 7 43358837 43358837 single base substitution T A intron_variant BRCA-EU 7 43359077 43359077 single base substitution A G intron_variant BRCA-EU 7 43359107 43359107 single base substitution C T intron_variant BRCA-EU 7 43359304 43359304 single base substitution T A intron_variant BRCA-EU 7 43359677 43359677 single base substitution G C intron_variant BRCA-EU 7 43360036 43360036 single base substitution A G intron_variant BRCA-EU 7 43360247 43360247 single base substitution C T exon_variant BRCA-EU 7 43360247 43360247 single base substitution C T synonymous_variant S122S 366C>T BRCA-EU 7 43360417 43360417 single base substitution G T intron_variant BRCA-EU 7 43361068 43361068 single base substitution A G intron_variant BRCA-EU 7 43361077 43361077 single base substitution A C intron_variant BRCA-EU 7 43361678 43361678 deletion of <=200bp T - intron_variant BRCA-EU 7 43361825 43361825 insertion of <=200bp - T intron_variant BRCA-EU 7 43361857 43361857 single base substitution G C intron_variant BRCA-EU 7 43363114 43363114 single base substitution A C intron_variant BRCA-EU 7 43363410 43363410 single base substitution C T intron_variant BRCA-EU 7 43364218 43364218 single base substitution T C intron_variant BRCA-EU 7 43366132 43366132 single base substitution G C intron_variant BRCA-EU 7 43366498 43366498 single base substitution C T intron_variant BRCA-EU 7 43369315 43369315 single base substitution G A intron_variant BRCA-EU 7 43369622 43369622 single base substitution C A intron_variant BRCA-EU 7 43369787 43369787 single base substitution C T intron_variant BRCA-EU 7 43370011 43370011 single base substitution G A intron_variant BRCA-EU 7 43370026 43370026 single base substitution T A intron_variant BRCA-EU 7 43370066 43370074 multiple base substitution (>=2bp and <=200bp) ATAAGAGGG AAGT intron_variant BRCA-EU 7 43370216 43370216 single base substitution G A intron_variant BRCA-EU 7 43371050 43371050 single base substitution G A intron_variant BRCA-EU 7 43373829 43373829 single base substitution C A intron_variant BRCA-EU 7 43374020 43374020 single base substitution C G intron_variant BRCA-EU 7 43375043 43375043 single base substitution G C intron_variant BRCA-EU 7 43375115 43375115 single base substitution G C intron_variant BRCA-EU 7 43375415 43375415 deletion of <=200bp T - intron_variant BRCA-EU 7 43375943 43375943 deletion of <=200bp T - intron_variant BRCA-EU 7 43376091 43376091 single base substitution T G intron_variant BRCA-EU 7 43377116 43377116 single base substitution A G intron_variant BRCA-EU 7 43377413 43377413 deletion of <=200bp T - intron_variant BRCA-EU 7 43378201 43378201 single base substitution T A intron_variant BRCA-EU 7 43378463 43378463 single base substitution C A intron_variant BRCA-EU 7 43378958 43378958 single base substitution C T intron_variant BRCA-EU 7 43379345 43379345 single base substitution G A intron_variant BRCA-EU 7 43379992 43379992 single base substitution G T intron_variant BRCA-EU 7 43380688 43380688 single base substitution C T intron_variant BRCA-EU 7 43381448 43381448 insertion of <=200bp - T intron_variant BRCA-EU 7 43381700 43381700 single base substitution G A intron_variant BRCA-EU 7 43382292 43382292 single base substitution G A intron_variant BRCA-EU 7 43383183 43383183 single base substitution A G intron_variant BRCA-EU 7 43384794 43384794 single base substitution A C intron_variant BRCA-EU 7 43384937 43384937 single base substitution A G intron_variant BRCA-EU 7 43385633 43385633 single base substitution G T intron_variant BRCA-EU 7 43386493 43386493 single base substitution G A intron_variant BRCA-EU 7 43386649 43386649 single base substitution G C intron_variant BRCA-EU 7 43388484 43388484 single base substitution A G intron_variant BRCA-EU 7 43388595 43388595 single base substitution T A intron_variant BRCA-EU 7 43388922 43388922 single base substitution T A intron_variant BRCA-EU 7 43388932 43388932 single base substitution C A intron_variant BRCA-EU 7 43389732 43389732 single base substitution G A intron_variant BRCA-EU 7 43389770 43389770 single base substitution G A intron_variant BRCA-EU 7 43389935 43389935 single base substitution G A intron_variant BRCA-EU 7 43390012 43390012 single base substitution T C intron_variant BRCA-EU 7 43391219 43391219 single base substitution G A intron_variant BRCA-EU 7 43391952 43391952 single base substitution G A intron_variant BRCA-EU 7 43393396 43393396 single base substitution A G intron_variant BRCA-EU 7 43393743 43393743 single base substitution A C intron_variant BRCA-EU 7 43393785 43393785 single base substitution A T intron_variant BRCA-EU 7 43393950 43393950 single base substitution C T intron_variant BRCA-EU 7 43394113 43394113 single base substitution G T intron_variant BRCA-EU 7 43394213 43394213 single base substitution G A intron_variant BRCA-EU 7 43394515 43394515 single base substitution G C intron_variant BRCA-EU 7 43394538 43394538 single base substitution A T intron_variant BRCA-EU 7 43396038 43396038 single base substitution A G intron_variant BRCA-EU 7 43396151 43396151 single base substitution C T intron_variant BRCA-EU 7 43396651 43396651 single base substitution C A intron_variant BRCA-EU 7 43397602 43397602 single base substitution C A intron_variant BRCA-EU 7 43397641 43397641 single base substitution C G intron_variant BRCA-EU 7 43399378 43399378 deletion of <=200bp A - intron_variant BRCA-EU 7 43399996 43399996 single base substitution G A intron_variant BRCA-EU 7 43400154 43400154 single base substitution C T intron_variant BRCA-EU 7 43400545 43400545 single base substitution C T exon_variant BRCA-EU 7 43400545 43400545 single base substitution C T missense_variant T174I 521C>T BRCA-EU 7 43401456 43401456 single base substitution C G intron_variant BRCA-EU 7 43402053 43402053 single base substitution C T intron_variant BRCA-EU 7 43403633 43403633 single base substitution C A intron_variant BRCA-EU 7 43406544 43406544 single base substitution G C intron_variant BRCA-EU 7 43407146 43407146 single base substitution G C intron_variant BRCA-EU 7 43407510 43407510 single base substitution C G intron_variant BRCA-EU 7 43407685 43407685 single base substitution A T intron_variant BRCA-EU 7 43409650 43409650 single base substitution C G intron_variant BRCA-EU 7 43409659 43409659 single base substitution G T intron_variant BRCA-EU 7 43413206 43413206 insertion of <=200bp - T intron_variant BRCA-EU 7 43413206 43413206 insertion of <=200bp - T upstream_gene_variant BRCA-EU 7 43415148 43415148 single base substitution C T intron_variant BRCA-EU 7 43415148 43415148 single base substitution C T upstream_gene_variant BRCA-EU 7 43415170 43415170 single base substitution A T intron_variant BRCA-EU 7 43415170 43415170 single base substitution A T upstream_gene_variant BRCA-EU 7 43415836 43415836 single base substitution A G intron_variant BRCA-EU 7 43415836 43415836 single base substitution A G upstream_gene_variant BRCA-EU 7 43416693 43416693 single base substitution C G intron_variant BRCA-EU 7 43416693 43416693 single base substitution C G upstream_gene_variant BRCA-EU 7 43416877 43416877 single base substitution A G intron_variant BRCA-EU 7 43416877 43416877 single base substitution A G upstream_gene_variant BRCA-EU 7 43417295 43417295 single base substitution C A intron_variant BRCA-EU 7 43417295 43417295 single base substitution C A upstream_gene_variant BRCA-EU 7 43419382 43419382 single base substitution C A intron_variant BRCA-EU 7 43419956 43419956 single base substitution C A intron_variant BRCA-EU 7 43420454 43420454 single base substitution T C intron_variant BRCA-EU 7 43421795 43421795 single base substitution G C intron_variant BRCA-EU 7 43424229 43424229 deletion of <=200bp A - intron_variant BRCA-EU 7 43426201 43426201 insertion of <=200bp - C intron_variant BRCA-EU 7 43427092 43427092 single base substitution G C intron_variant BRCA-EU 7 43428532 43428532 single base substitution C A intron_variant BRCA-EU 7 43429076 43429076 single base substitution T C intron_variant BRCA-EU 7 43429565 43429565 single base substitution T A intron_variant BRCA-EU 7 43430053 43430053 single base substitution C A intron_variant BRCA-EU 7 43430244 43430244 deletion of <=200bp G - intron_variant BRCA-EU 7 43430308 43430308 single base substitution G C intron_variant BRCA-EU 7 43431878 43431878 single base substitution A G intron_variant BRCA-EU 7 43431878 43431878 single base substitution A G upstream_gene_variant BRCA-EU 7 43432400 43432400 single base substitution G A intron_variant BRCA-EU 7 43432400 43432400 single base substitution G A upstream_gene_variant BRCA-EU 7 43433156 43433156 single base substitution G T intron_variant BRCA-EU 7 43433156 43433156 single base substitution G T upstream_gene_variant BRCA-EU 7 43433361 43433361 single base substitution G C intron_variant BRCA-EU 7 43433361 43433361 single base substitution G C upstream_gene_variant BRCA-EU 7 43433526 43433526 single base substitution G C intron_variant BRCA-EU 7 43433526 43433526 single base substitution G C upstream_gene_variant BRCA-EU 7 43434078 43434078 single base substitution T C intron_variant BRCA-EU 7 43434078 43434078 single base substitution T C upstream_gene_variant BRCA-EU 7 43434483 43434483 single base substitution G T intron_variant BRCA-EU 7 43434483 43434483 single base substitution G T upstream_gene_variant BRCA-EU 7 43435924 43435924 single base substitution C T intron_variant BRCA-EU 7 43435924 43435924 single base substitution C T upstream_gene_variant BRCA-EU 7 43439559 43439559 single base substitution G A intron_variant BRCA-EU 7 43440524 43440524 single base substitution G A intron_variant BRCA-EU 7 43441001 43441001 deletion of <=200bp T - intron_variant BRCA-EU 7 43441301 43441301 single base substitution G C intron_variant BRCA-EU 7 43442361 43442361 single base substitution A T intron_variant BRCA-EU 7 43442742 43442742 single base substitution C T intron_variant BRCA-EU 7 43443146 43443146 single base substitution G A intron_variant BRCA-EU 7 43443148 43443148 single base substitution G A intron_variant BRCA-EU 7 43443183 43443183 single base substitution C G intron_variant BRCA-EU 7 43444093 43444093 single base substitution A T intron_variant BRCA-EU 7 43444145 43444145 single base substitution G A intron_variant BRCA-EU 7 43444720 43444720 single base substitution G A intron_variant BRCA-EU 7 43445181 43445181 single base substitution A G intron_variant BRCA-EU 7 43445492 43445492 single base substitution C A intron_variant BRCA-EU 7 43446074 43446074 single base substitution G A intron_variant BRCA-EU 7 43447196 43447196 single base substitution T G exon_variant BRCA-EU 7 43447196 43447196 single base substitution T G missense_variant F223V 667T>G BRCA-EU 7 43447229 43447229 single base substitution C T exon_variant BRCA-EU 7 43447229 43447229 single base substitution C T stop_gained Q234* 700C>T BRCA-EU 7 43448611 43448611 single base substitution A G downstream_gene_variant BRCA-EU 7 43448611 43448611 single base substitution A G intron_variant BRCA-EU 7 43449112 43449112 single base substitution G A downstream_gene_variant BRCA-EU 7 43449112 43449112 single base substitution G A intron_variant BRCA-EU 7 43449863 43449863 single base substitution A T downstream_gene_variant BRCA-EU 7 43449863 43449863 single base substitution A T intron_variant BRCA-EU 7 43450041 43450041 single base substitution C T downstream_gene_variant BRCA-EU 7 43450041 43450041 single base substitution C T intron_variant BRCA-EU 7 43450198 43450198 single base substitution T G downstream_gene_variant BRCA-EU 7 43450198 43450198 single base substitution T G intron_variant BRCA-EU 7 43451300 43451300 single base substitution A C downstream_gene_variant BRCA-EU 7 43451300 43451300 single base substitution A C intron_variant BRCA-EU 7 43454523 43454523 single base substitution G C intron_variant BRCA-EU 7 43456710 43456710 single base substitution C T intron_variant BRCA-EU 7 43457534 43457534 single base substitution A T intron_variant BRCA-EU 7 43458259 43458259 single base substitution G T intron_variant BRCA-EU 7 43458857 43458857 single base substitution C T intron_variant BRCA-EU 7 43459626 43459626 single base substitution G A intron_variant BRCA-EU 7 43461462 43461462 single base substitution G C intron_variant BRCA-EU 7 43461561 43461564 multiple base substitution (>=2bp and <=200bp) GCTT GTA intron_variant BRCA-EU 7 43461564 43461564 single base substitution T A intron_variant BRCA-EU 7 43461926 43461926 single base substitution G C intron_variant BRCA-EU 7 43462329 43462329 single base substitution T C intron_variant BRCA-EU 7 43463044 43463044 single base substitution C G intron_variant BRCA-EU 7 43463117 43463117 single base substitution C T intron_variant BRCA-EU 7 43463622 43463622 single base substitution G C intron_variant BRCA-EU 7 43463772 43463772 single base substitution G C intron_variant BRCA-EU 7 43464197 43464197 single base substitution G T intron_variant BRCA-EU 7 43464484 43464484 single base substitution G T intron_variant BRCA-EU 7 43465159 43465159 single base substitution T G intron_variant BRCA-EU 7 43466797 43466797 single base substitution T G intron_variant BRCA-EU 7 43467411 43467411 single base substitution G A intron_variant BRCA-EU 7 43467617 43467617 single base substitution A G intron_variant BRCA-EU 7 43470179 43470179 single base substitution G C intron_variant BRCA-EU 7 43470468 43470468 single base substitution C A intron_variant BRCA-EU 7 43471234 43471234 single base substitution T A intron_variant BRCA-EU 7 43472813 43472813 single base substitution G A intron_variant BRCA-EU 7 43472819 43472819 single base substitution T A intron_variant BRCA-EU 7 43473035 43473035 single base substitution G T intron_variant BRCA-EU 7 43474285 43474285 single base substitution A G intron_variant BRCA-EU 7 43476175 43476175 single base substitution G C intron_variant BRCA-EU 7 43476482 43476482 single base substitution G T intron_variant BRCA-EU 7 43476510 43476510 single base substitution C T intron_variant BRCA-EU 7 43477242 43477242 single base substitution A G intron_variant BRCA-EU 7 43478760 43478760 single base substitution G T downstream_gene_variant BRCA-EU 7 43478760 43478760 single base substitution G T exon_variant BRCA-EU 7 43478760 43478760 single base substitution G T intron_variant BRCA-EU 7 43479757 43479757 single base substitution G C downstream_gene_variant BRCA-EU 7 43479757 43479757 single base substitution G C exon_variant BRCA-EU 7 43479757 43479757 single base substitution G C intron_variant BRCA-EU 7 43480777 43480777 single base substitution A C downstream_gene_variant BRCA-EU 7 43480777 43480777 single base substitution A C intron_variant BRCA-EU 7 43480779 43480779 single base substitution G A downstream_gene_variant BRCA-EU 7 43480779 43480779 single base substitution G A intron_variant BRCA-EU 7 43482144 43482144 single base substitution T A downstream_gene_variant BRCA-EU 7 43482144 43482144 single base substitution T A missense_variant Y321N 961T>A BRCA-EU 7 43482678 43482678 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 43482678 43482678 deletion of <=200bp A - intron_variant BRCA-EU 7 43484148 43484148 single base substitution C T downstream_gene_variant BRCA-EU 7 43484148 43484148 single base substitution C T synonymous_variant A459A 1377C>T BRCA-EU 7 43485066 43485066 single base substitution C T downstream_gene_variant BRCA-EU 7 43485066 43485066 single base substitution C T synonymous_variant G765G 2295C>T BRCA-EU 7 43488047 43488047 single base substitution C T intron_variant BRCA-EU 7 43488178 43488178 single base substitution G T intron_variant BRCA-EU 7 43488217 43488217 single base substitution G C intron_variant BRCA-EU 7 43488247 43488247 single base substitution A T intron_variant BRCA-EU 7 43489442 43489442 single base substitution G A intron_variant BRCA-EU 7 43489462 43489462 single base substitution G C intron_variant BRCA-EU 7 43490920 43490920 single base substitution T C intron_variant BRCA-EU 7 43490959 43490959 single base substitution C A intron_variant BRCA-EU 7 43491426 43491426 single base substitution G A intron_variant BRCA-EU 7 43492268 43492268 single base substitution A G intron_variant BRCA-EU 7 43492466 43492466 single base substitution G C intron_variant BRCA-EU 7 43493852 43493852 single base substitution G C intron_variant BRCA-EU 7 43494260 43494260 single base substitution C G intron_variant BRCA-EU 7 43494345 43494345 deletion of <=200bp A - intron_variant BRCA-EU 7 43494885 43494885 single base substitution G A intron_variant BRCA-EU 7 43498753 43498753 single base substitution G A intron_variant BRCA-EU 7 43499012 43499012 single base substitution T G intron_variant BRCA-EU 7 43499047 43499047 deletion of <=200bp T - intron_variant BRCA-EU 7 43501583 43501583 single base substitution A G intron_variant BRCA-EU 7 43501906 43501906 single base substitution C T intron_variant BRCA-EU 7 43501982 43501982 insertion of <=200bp - T intron_variant BRCA-EU 7 43502637 43502637 single base substitution C T intron_variant BRCA-EU 7 43504417 43504417 single base substitution T C intron_variant BRCA-EU 7 43504565 43504565 single base substitution T C intron_variant BRCA-EU 7 43504647 43504647 single base substitution C T intron_variant BRCA-EU 7 43508324 43508324 single base substitution T C intron_variant BRCA-EU 7 43509001 43509001 deletion of <=200bp T - intron_variant BRCA-EU 7 43509800 43509800 single base substitution G A intron_variant BRCA-EU 7 43509944 43509944 insertion of <=200bp - CAC intron_variant BRCA-EU 7 43511013 43511013 single base substitution C T intron_variant BRCA-EU 7 43511301 43511301 single base substitution G A intron_variant BRCA-EU 7 43512591 43512591 single base substitution C A intron_variant BRCA-EU 7 43512824 43512824 single base substitution G C intron_variant BRCA-EU 7 43514780 43514780 single base substitution G A intron_variant BRCA-EU 7 43514780 43514780 single base substitution G A upstream_gene_variant BRCA-EU 7 43514842 43514845 deletion of <=200bp AAAA - intron_variant BRCA-EU 7 43514842 43514845 deletion of <=200bp AAAA - upstream_gene_variant BRCA-EU 7 43516480 43516480 single base substitution G A intron_variant BRCA-EU 7 43516480 43516480 single base substitution G A upstream_gene_variant BRCA-EU 7 43516610 43516610 single base substitution C T intron_variant BRCA-EU 7 43516610 43516610 single base substitution C T upstream_gene_variant BRCA-EU 7 43516669 43516669 single base substitution C A intron_variant BRCA-EU 7 43516669 43516669 single base substitution C A upstream_gene_variant BRCA-EU 7 43519279 43519279 single base substitution G A exon_variant BRCA-EU 7 43519279 43519279 single base substitution G A missense_variant R1023H 3068G>A BRCA-EU 7 43519279 43519279 single base substitution G A missense_variant R1057H 3170G>A BRCA-EU 7 43519279 43519279 single base substitution G A missense_variant R9H 26G>A BRCA-EU 7 43519502 43519502 single base substitution C T intron_variant BRCA-EU 7 43520322 43520322 insertion of <=200bp - ATATATATATATATACACACACACACACATATATACGC intron_variant BRCA-EU 7 43522739 43522739 single base substitution G A intron_variant BRCA-EU 7 43522809 43522809 single base substitution G T intron_variant BRCA-EU 7 43522887 43522887 single base substitution G T intron_variant BRCA-EU 7 43522936 43522936 single base substitution A G intron_variant BRCA-EU 7 43523088 43523088 single base substitution T C intron_variant BRCA-EU 7 43523639 43523639 single base substitution G A intron_variant BRCA-EU 7 43523671 43523671 single base substitution G A intron_variant BRCA-EU 7 43525460 43525460 deletion of <=200bp T - downstream_gene_variant BRCA-EU 7 43525460 43525460 deletion of <=200bp T - intron_variant BRCA-EU 7 43525496 43525496 single base substitution T G downstream_gene_variant BRCA-EU 7 43525496 43525496 single base substitution T G intron_variant BRCA-EU 7 43526028 43526028 single base substitution G C downstream_gene_variant BRCA-EU 7 43526028 43526028 single base substitution G C intron_variant BRCA-EU 7 43526604 43526604 single base substitution G C downstream_gene_variant BRCA-EU 7 43526604 43526604 single base substitution G C intron_variant BRCA-EU 7 43526609 43526609 single base substitution A T downstream_gene_variant BRCA-EU 7 43526609 43526609 single base substitution A T intron_variant BRCA-EU 7 43526708 43526708 single base substitution C T downstream_gene_variant BRCA-EU 7 43526708 43526708 single base substitution C T intron_variant BRCA-EU 7 43526741 43526741 deletion of <=200bp T - downstream_gene_variant BRCA-EU 7 43526741 43526741 deletion of <=200bp T - intron_variant BRCA-EU 7 43527552 43527552 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 43527552 43527552 deletion of <=200bp A - intron_variant BRCA-EU 7 43527860 43527860 single base substitution G C downstream_gene_variant BRCA-EU 7 43527860 43527860 single base substitution G C intron_variant BRCA-EU 7 43528432 43528432 single base substitution G A downstream_gene_variant BRCA-EU 7 43528432 43528432 single base substitution G A intron_variant BRCA-EU 7 43530097 43530097 single base substitution A C intron_variant BRCA-EU 7 43531211 43531211 deletion of <=200bp T - intron_variant BRCA-EU 7 43531395 43531395 single base substitution T G intron_variant BRCA-EU 7 43532497 43532497 deletion of <=200bp A - intron_variant BRCA-EU 7 43532864 43532864 single base substitution G A intron_variant BRCA-EU 7 43533027 43533027 deletion of <=200bp G - intron_variant BRCA-EU 7 43533152 43533152 single base substitution C A intron_variant BRCA-EU 7 43533159 43533159 single base substitution G A intron_variant BRCA-EU 7 43533818 43533818 single base substitution C G intron_variant BRCA-EU 7 43534766 43534766 single base substitution G T intron_variant BRCA-EU 7 43535339 43535339 single base substitution G C intron_variant BRCA-EU 7 43535585 43535585 deletion of <=200bp T - intron_variant BRCA-EU 7 43536501 43536501 single base substitution G T intron_variant BRCA-EU 7 43536541 43536541 single base substitution G A intron_variant BRCA-EU 7 43537068 43537068 single base substitution G A intron_variant BRCA-EU 7 43537356 43537356 single base substitution G T intron_variant BRCA-EU 7 43538650 43538650 single base substitution C T intron_variant BRCA-EU 7 43541136 43541136 deletion of <=200bp A - intron_variant BRCA-EU 7 43541621 43541621 single base substitution A C intron_variant BRCA-EU 7 43541717 43541717 single base substitution C T intron_variant BRCA-EU 7 43541938 43541938 single base substitution C T intron_variant BRCA-EU 7 43542918 43542918 single base substitution G A intron_variant BRCA-EU 7 43543619 43543619 single base substitution C T intron_variant BRCA-EU 7 43544223 43544223 single base substitution T C intron_variant BRCA-EU 7 43545230 43545230 single base substitution C T intron_variant BRCA-EU 7 43545320 43545320 single base substitution C T intron_variant BRCA-EU 7 43545516 43545516 single base substitution T G intron_variant BRCA-EU 7 43546370 43546370 single base substitution A G intron_variant BRCA-EU 7 43546499 43546499 single base substitution G C intron_variant BRCA-EU 7 43546522 43546522 single base substitution A T intron_variant BRCA-EU 7 43546584 43546584 single base substitution G A intron_variant BRCA-EU 7 43546618 43546618 single base substitution G A intron_variant BRCA-EU 7 43547367 43547367 single base substitution A T intron_variant BRCA-EU 7 43547466 43547466 single base substitution C T intron_variant BRCA-EU 7 43548626 43548626 single base substitution A C intron_variant BRCA-EU 7 43548626 43548626 single base substitution A C missense_variant N1275H 3823A>C BRCA-EU 7 43548626 43548626 single base substitution A C missense_variant N1309H 3925A>C BRCA-EU 7 43549327 43549327 single base substitution G C intron_variant BRCA-EU 7 43550707 43550707 single base substitution A G intron_variant BRCA-EU 7 43551022 43551022 single base substitution G T intron_variant BRCA-EU 7 43551638 43551638 single base substitution C T intron_variant BRCA-EU 7 43552558 43552558 single base substitution G A intron_variant BRCA-EU 7 43553000 43553000 single base substitution A G intron_variant BRCA-EU 7 43553080 43553080 single base substitution G T intron_variant BRCA-EU 7 43553282 43553282 insertion of <=200bp - T intron_variant BRCA-EU 7 43553389 43553389 single base substitution C T intron_variant BRCA-EU 7 43553620 43553620 single base substitution C T intron_variant BRCA-EU 7 43555587 43555587 single base substitution G A intron_variant BRCA-EU 7 43556239 43556239 single base substitution T A intron_variant BRCA-EU 7 43556245 43556245 single base substitution C T intron_variant BRCA-EU 7 43558022 43558022 single base substitution G T intron_variant BRCA-EU 7 43558221 43558221 single base substitution T A intron_variant BRCA-EU 7 43558326 43558326 single base substitution G C intron_variant BRCA-EU 7 43559090 43559090 single base substitution G A intron_variant BRCA-EU 7 43559122 43559122 single base substitution C T intron_variant BRCA-EU 7 43559544 43559544 single base substitution A T intron_variant BRCA-EU 7 43559728 43559728 single base substitution A G intron_variant BRCA-EU 7 43560818 43560818 single base substitution G T intron_variant BRCA-EU 7 43561076 43561076 single base substitution G A intron_variant BRCA-EU 7 43561150 43561150 single base substitution G A intron_variant BRCA-EU 7 43561233 43561233 single base substitution G C intron_variant BRCA-EU 7 43562066 43562066 single base substitution A G intron_variant BRCA-EU 7 43564133 43564133 single base substitution A G intron_variant BRCA-EU 7 43564840 43564840 single base substitution G T intron_variant BRCA-EU 7 43569437 43569437 single base substitution C T intron_variant BRCA-EU 7 43570601 43570601 single base substitution G C intron_variant BRCA-EU 7 43571343 43571343 single base substitution T A intron_variant BRCA-EU 7 43571344 43571344 single base substitution C A intron_variant BRCA-EU 7 43571393 43571393 single base substitution G A intron_variant BRCA-EU 7 43573078 43573098 deletion of <=200bp TGTCCTGGAGGCATCCAGGCA - intron_variant BRCA-EU 7 43573874 43573874 single base substitution A G intron_variant BRCA-EU 7 43573903 43573903 deletion of <=200bp T - intron_variant BRCA-EU 7 43579315 43579315 single base substitution G A intron_variant BRCA-EU 7 43579762 43579762 single base substitution G T intron_variant BRCA-EU 7 43582924 43582924 single base substitution C A downstream_gene_variant BRCA-EU 7 43582924 43582924 single base substitution C A intron_variant BRCA-EU 7 43583793 43583793 single base substitution C A downstream_gene_variant BRCA-EU 7 43583793 43583793 single base substitution C A intron_variant BRCA-EU 7 43585040 43585040 single base substitution G C downstream_gene_variant BRCA-EU 7 43585040 43585040 single base substitution G C intron_variant BRCA-EU 7 43586125 43586125 single base substitution G A downstream_gene_variant BRCA-EU 7 43586125 43586125 single base substitution G A intron_variant BRCA-EU 7 43586353 43586353 single base substitution G T downstream_gene_variant BRCA-EU 7 43586353 43586353 single base substitution G T intron_variant BRCA-EU 7 43586376 43586376 single base substitution G A downstream_gene_variant BRCA-EU 7 43586376 43586376 single base substitution G A intron_variant BRCA-EU 7 43587476 43587476 single base substitution C A intron_variant BRCA-EU 7 43587784 43587784 single base substitution A G intron_variant BRCA-EU 7 43588153 43588153 single base substitution G C intron_variant BRCA-EU 7 43588229 43588229 deletion of <=200bp T - intron_variant BRCA-EU 7 43588805 43588805 single base substitution A T intron_variant BRCA-EU 7 43588854 43588854 single base substitution T C intron_variant BRCA-EU 7 43589117 43589117 single base substitution G A intron_variant BRCA-EU 7 43589533 43589533 single base substitution G C intron_variant BRCA-EU 7 43591627 43591627 single base substitution T A intron_variant BRCA-EU 7 43593454 43593454 single base substitution T G intron_variant BRCA-EU 7 43593907 43593907 single base substitution A C intron_variant BRCA-EU 7 43594580 43594580 single base substitution G T intron_variant BRCA-EU 7 43595050 43595050 single base substitution G A intron_variant BRCA-EU 7 43595876 43595876 single base substitution A C intron_variant BRCA-EU 7 43596454 43596454 single base substitution A C intron_variant BRCA-EU 7 43596526 43596526 single base substitution G C intron_variant BRCA-EU 7 43596952 43596952 single base substitution G A intron_variant BRCA-EU 7 43597546 43597546 single base substitution G T intron_variant BRCA-EU 7 43597624 43597624 single base substitution G C intron_variant BRCA-EU 7 43598077 43598077 single base substitution T A intron_variant BRCA-EU 7 43598274 43598274 single base substitution G A intron_variant BRCA-EU 7 43600308 43600308 single base substitution C T intron_variant BRCA-EU 7 43602481 43602481 single base substitution A C 3_prime_UTR_variant BRCA-EU 7 43602481 43602481 single base substitution A C downstream_gene_variant BRCA-EU 7 43602502 43602502 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 7 43602502 43602502 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 43603663 43603663 single base substitution G A 3_prime_UTR_variant BRCA-EU 7 43603663 43603663 single base substitution G A downstream_gene_variant BRCA-EU 7 43603967 43603990 deletion of <=200bp ATTACTAATTAATCTATTAATTAG - 3_prime_UTR_variant BRCA-EU 7 43603967 43603990 deletion of <=200bp ATTACTAATTAATCTATTAATTAG - downstream_gene_variant BRCA-EU 7 43604203 43604203 single base substitution C T 3_prime_UTR_variant BRCA-EU 7 43604203 43604203 single base substitution C T downstream_gene_variant BRCA-EU 7 43604245 43604245 single base substitution A T 3_prime_UTR_variant BRCA-EU 7 43604245 43604245 single base substitution A T downstream_gene_variant BRCA-EU 7 43605110 43605110 single base substitution C G 3_prime_UTR_variant BRCA-EU 7 43605110 43605110 single base substitution C G downstream_gene_variant BRCA-EU 7 43605600 43605600 single base substitution A G 3_prime_UTR_variant BRCA-EU 7 43605600 43605600 single base substitution A G downstream_gene_variant BRCA-EU 7 43607970 43607970 single base substitution A T downstream_gene_variant BRCA-EU 7 43610298 43610298 single base substitution G A downstream_gene_variant BRCA-FR 7 43151244 43151244 single base substitution G C upstream_gene_variant BRCA-FR 7 43161643 43161643 single base substitution C A intron_variant BRCA-FR 7 43167758 43167758 single base substitution C T intron_variant BRCA-FR 7 43170029 43170029 single base substitution T C intron_variant BRCA-FR 7 43173430 43173430 single base substitution C A intron_variant BRCA-FR 7 43176449 43176449 single base substitution G A intron_variant BRCA-FR 7 43179139 43179139 single base substitution A G intron_variant BRCA-FR 7 43191037 43191037 single base substitution G C intron_variant BRCA-FR 7 43191057 43191057 single base substitution G T intron_variant BRCA-FR 7 43194017 43194017 single base substitution A C intron_variant BRCA-FR 7 43212377 43212377 single base substitution G C intron_variant BRCA-FR 7 43236497 43236497 single base substitution T G intron_variant BRCA-FR 7 43242207 43242207 single base substitution G C intron_variant BRCA-FR 7 43243595 43243595 single base substitution G C intron_variant BRCA-FR 7 43243945 43243945 single base substitution C T intron_variant BRCA-FR 7 43247678 43247678 single base substitution T G intron_variant BRCA-FR 7 43253050 43253050 single base substitution T A intron_variant BRCA-FR 7 43258427 43258427 single base substitution G C intron_variant BRCA-FR 7 43261086 43261086 single base substitution G A intron_variant BRCA-FR 7 43261698 43261698 single base substitution C T intron_variant BRCA-FR 7 43263417 43263417 single base substitution C G intron_variant BRCA-FR 7 43267029 43267029 single base substitution G A intron_variant BRCA-FR 7 43271935 43271935 single base substitution A G intron_variant BRCA-FR 7 43274618 43274618 single base substitution C A intron_variant BRCA-FR 7 43276230 43276230 single base substitution G A intron_variant BRCA-FR 7 43277063 43277063 single base substitution G C intron_variant BRCA-FR 7 43279266 43279266 single base substitution G A intron_variant BRCA-FR 7 43282940 43282940 single base substitution C T intron_variant BRCA-FR 7 43290147 43290147 single base substitution G A intron_variant BRCA-FR 7 43292869 43292869 single base substitution C T intron_variant BRCA-FR 7 43293127 43293127 single base substitution G C intron_variant BRCA-FR 7 43295655 43295655 single base substitution G T intron_variant BRCA-FR 7 43297835 43297835 single base substitution G A intron_variant BRCA-FR 7 43297836 43297836 single base substitution G A intron_variant BRCA-FR 7 43305495 43305495 single base substitution A C intron_variant BRCA-FR 7 43306131 43306131 single base substitution C T intron_variant BRCA-FR 7 43318344 43318344 single base substitution G C intron_variant BRCA-FR 7 43322187 43322187 single base substitution G C intron_variant BRCA-FR 7 43331009 43331009 single base substitution G T intron_variant BRCA-FR 7 43334307 43334307 single base substitution G A intron_variant BRCA-FR 7 43357984 43357984 single base substitution C A intron_variant BRCA-FR 7 43359107 43359107 single base substitution C T intron_variant BRCA-FR 7 43368808 43368808 single base substitution G C intron_variant BRCA-FR 7 43370011 43370011 single base substitution G A intron_variant BRCA-FR 7 43374020 43374020 single base substitution C G intron_variant BRCA-FR 7 43379345 43379345 single base substitution G A intron_variant BRCA-FR 7 43386493 43386493 single base substitution G A intron_variant BRCA-FR 7 43386649 43386649 single base substitution G C intron_variant BRCA-FR 7 43391219 43391219 single base substitution G A intron_variant BRCA-FR 7 43391952 43391952 single base substitution G A intron_variant BRCA-FR 7 43394113 43394113 single base substitution G T intron_variant BRCA-FR 7 43396651 43396651 single base substitution C A intron_variant BRCA-FR 7 43397602 43397602 single base substitution C A intron_variant BRCA-FR 7 43402053 43402053 single base substitution C T intron_variant BRCA-FR 7 43419382 43419382 single base substitution C A intron_variant BRCA-FR 7 43432400 43432400 single base substitution G A intron_variant BRCA-FR 7 43432400 43432400 single base substitution G A upstream_gene_variant BRCA-FR 7 43443183 43443183 single base substitution C G intron_variant BRCA-FR 7 43451701 43451701 single base substitution C T downstream_gene_variant BRCA-FR 7 43451701 43451701 single base substitution C T intron_variant BRCA-FR 7 43456710 43456710 single base substitution C T intron_variant BRCA-FR 7 43464542 43464542 single base substitution C T intron_variant BRCA-FR 7 43470179 43470179 single base substitution G C intron_variant BRCA-FR 7 43472813 43472813 single base substitution G A intron_variant BRCA-FR 7 43476510 43476510 single base substitution C T intron_variant BRCA-FR 7 43478167 43478167 single base substitution G C exon_variant BRCA-FR 7 43478167 43478167 single base substitution G C intron_variant BRCA-FR 7 43478760 43478760 single base substitution G T downstream_gene_variant BRCA-FR 7 43478760 43478760 single base substitution G T exon_variant BRCA-FR 7 43478760 43478760 single base substitution G T intron_variant BRCA-FR 7 43489442 43489442 single base substitution G A intron_variant BRCA-FR 7 43489472 43489472 single base substitution G A intron_variant BRCA-FR 7 43490920 43490920 single base substitution T C intron_variant BRCA-FR 7 43491426 43491426 single base substitution G A intron_variant BRCA-FR 7 43492466 43492466 single base substitution G C intron_variant BRCA-FR 7 43504647 43504647 single base substitution C T intron_variant BRCA-FR 7 43523671 43523671 single base substitution G A intron_variant BRCA-FR 7 43527860 43527860 single base substitution G C downstream_gene_variant BRCA-FR 7 43527860 43527860 single base substitution G C intron_variant BRCA-FR 7 43530097 43530097 single base substitution A C intron_variant BRCA-FR 7 43531395 43531395 single base substitution T G intron_variant BRCA-FR 7 43535196 43535196 single base substitution G C intron_variant BRCA-FR 7 43536501 43536501 single base substitution G T intron_variant BRCA-FR 7 43547528 43547528 single base substitution G A intron_variant BRCA-FR 7 43558022 43558022 single base substitution G T intron_variant BRCA-FR 7 43559090 43559090 single base substitution G A intron_variant BRCA-FR 7 43564840 43564840 single base substitution G T intron_variant BRCA-FR 7 43565831 43565831 single base substitution T A intron_variant BRCA-FR 7 43567211 43567211 single base substitution A T intron_variant BRCA-FR 7 43567212 43567212 single base substitution A T intron_variant BRCA-FR 7 43585040 43585040 single base substitution G C downstream_gene_variant BRCA-FR 7 43585040 43585040 single base substitution G C intron_variant BRCA-FR 7 43589117 43589117 single base substitution G A intron_variant BRCA-FR 7 43597597 43597597 single base substitution C T intron_variant BRCA-FR 7 43598718 43598718 single base substitution G A intron_variant BRCA-KR 7 43483822 43483822 single base substitution G A downstream_gene_variant BRCA-KR 7 43483822 43483822 single base substitution G A missense_variant E351K 1051G>A BRCA-UK 7 43160310 43160310 single base substitution T C intron_variant BRCA-UK 7 43176936 43176936 single base substitution C T intron_variant BRCA-UK 7 43177222 43177222 single base substitution C T intron_variant BRCA-UK 7 43178649 43178649 single base substitution C G intron_variant BRCA-UK 7 43180370 43180370 single base substitution C G intron_variant BRCA-UK 7 43191747 43191747 single base substitution A G intron_variant BRCA-UK 7 43204472 43204472 single base substitution C G intron_variant BRCA-UK 7 43210934 43210934 single base substitution G A intron_variant BRCA-UK 7 43211850 43211850 single base substitution G A intron_variant BRCA-UK 7 43240411 43240411 single base substitution G A intron_variant BRCA-UK 7 43243568 43243568 single base substitution A T intron_variant BRCA-UK 7 43276599 43276599 single base substitution C A intron_variant BRCA-UK 7 43295008 43295008 single base substitution G A intron_variant BRCA-UK 7 43319385 43319385 single base substitution T C intron_variant BRCA-UK 7 43321195 43321195 single base substitution G C intron_variant BRCA-UK 7 43344473 43344473 single base substitution G A intron_variant BRCA-UK 7 43393743 43393743 single base substitution A C intron_variant BRCA-UK 7 43393950 43393950 single base substitution C T intron_variant BRCA-UK 7 43400545 43400545 single base substitution C T exon_variant BRCA-UK 7 43400545 43400545 single base substitution C T missense_variant T174I 521C>T BRCA-UK 7 43409650 43409650 single base substitution C G intron_variant BRCA-UK 7 43411641 43411641 single base substitution G C intron_variant BRCA-UK 7 43420454 43420454 single base substitution T C intron_variant BRCA-UK 7 43428395 43428395 single base substitution C G intron_variant BRCA-UK 7 43428532 43428532 single base substitution C A intron_variant BRCA-UK 7 43429026 43429026 single base substitution C G intron_variant BRCA-UK 7 43441301 43441301 single base substitution G C intron_variant BRCA-UK 7 43444575 43444575 single base substitution C A intron_variant BRCA-UK 7 43449863 43449863 single base substitution A T downstream_gene_variant BRCA-UK 7 43449863 43449863 single base substitution A T intron_variant BRCA-UK 7 43470468 43470468 single base substitution C A intron_variant BRCA-UK 7 43494260 43494260 single base substitution C G intron_variant BRCA-UK 7 43501906 43501906 single base substitution C T intron_variant BRCA-UK 7 43508600 43508600 single base substitution C T missense_variant R965C 2893C>T BRCA-UK 7 43508600 43508600 single base substitution C T missense_variant R999C 2995C>T BRCA-UK 7 43569437 43569437 single base substitution C T intron_variant BRCA-UK 7 43573903 43573903 deletion of <=200bp T - intron_variant BRCA-UK 7 43582924 43582924 single base substitution C A downstream_gene_variant BRCA-UK 7 43582924 43582924 single base substitution C A intron_variant BRCA-US 7 43157968 43157968 single base substitution G T intron_variant BRCA-US 7 43351515 43351515 single base substitution G A exon_variant BRCA-US 7 43351515 43351515 single base substitution G A missense_variant V61I 181G>A BRCA-US 7 43436434 43436434 single base substitution G A exon_variant BRCA-US 7 43436434 43436434 single base substitution G A missense_variant D193N 577G>A BRCA-US 7 43482155 43482155 single base substitution C T downstream_gene_variant BRCA-US 7 43482155 43482155 single base substitution C T synonymous_variant G324G 972C>T BRCA-US 7 43483924 43483924 deletion of <=200bp C - downstream_gene_variant BRCA-US 7 43483924 43483924 deletion of <=200bp C - frameshift_variant P385 BRCA-US 7 43484065 43484065 single base substitution T A downstream_gene_variant BRCA-US 7 43484065 43484065 single base substitution T A missense_variant S432T 1294T>A BRCA-US 7 43484146 43484146 single base substitution G T downstream_gene_variant BRCA-US 7 43484146 43484146 single base substitution G T missense_variant A459S 1375G>T BRCA-US 7 43484164 43484164 single base substitution G T downstream_gene_variant BRCA-US 7 43484164 43484164 single base substitution G T missense_variant G465C 1393G>T BRCA-US 7 43484512 43484512 single base substitution G T downstream_gene_variant BRCA-US 7 43484512 43484512 single base substitution G T stop_gained E581* 1741G>T BRCA-US 7 43484586 43484586 single base substitution G A downstream_gene_variant BRCA-US 7 43484586 43484586 single base substitution G A synonymous_variant T605T 1815G>A BRCA-US 7 43484778 43484778 single base substitution T C downstream_gene_variant BRCA-US 7 43484778 43484778 single base substitution T C synonymous_variant S669S 2007T>C BRCA-US 7 43506070 43506070 single base substitution C A missense_variant S905Y 2714C>A BRCA-US 7 43506070 43506070 single base substitution C A missense_variant S939Y 2816C>A BRCA-US 7 43506115 43506115 single base substitution C T missense_variant A920V 2759C>T BRCA-US 7 43506115 43506115 single base substitution C T missense_variant A954V 2861C>T BRCA-US 7 43532742 43532742 single base substitution G A intron_variant BRCA-US 7 43532742 43532742 single base substitution G A missense_variant E1100K 3298G>A BRCA-US 7 43532742 43532742 single base substitution G A missense_variant E1134K 3400G>A BRCA-US 7 43540893 43540893 single base substitution A C intron_variant BRCA-US 7 43540893 43540893 single base substitution A C synonymous_variant S1167S 3501A>C BRCA-US 7 43540893 43540893 single base substitution A C synonymous_variant S1201S 3603A>C BRCA-US 7 43546786 43546786 single base substitution G C intron_variant BRCA-US 7 43546786 43546786 single base substitution G C missense_variant E1194Q 3580G>C BRCA-US 7 43546786 43546786 single base substitution G C missense_variant E1228Q 3682G>C BRCA-US 7 43546850 43546850 single base substitution A T intron_variant BRCA-US 7 43546850 43546850 single base substitution A T missense_variant K1215I 3644A>T BRCA-US 7 43546850 43546850 single base substitution A T missense_variant K1249I 3746A>T BRCA-US 7 43548589 43548589 single base substitution G A intron_variant BRCA-US 7 43548589 43548589 single base substitution G A synonymous_variant S1262S 3786G>A BRCA-US 7 43548589 43548589 single base substitution G A synonymous_variant S1296S 3888G>A BRCA-US 7 43548644 43548645 deletion of <=200bp TT - frameshift_variant F1281 BRCA-US 7 43548644 43548645 deletion of <=200bp TT - frameshift_variant F1315 BRCA-US 7 43548644 43548645 deletion of <=200bp TT - intron_variant BRCA-US 7 43580831 43580831 single base substitution G C synonymous_variant T1329T 3987G>C BRCA-US 7 43580831 43580831 single base substitution G C synonymous_variant T1363T 4089G>C BRCA-US 7 43580831 43580831 single base substitution G C synonymous_variant T86T 258G>C BRCA-US 7 43590145 43590145 single base substitution C T synonymous_variant R1416R 4248C>T BRCA-US 7 43590145 43590145 single base substitution C T synonymous_variant R1450R 4350C>T BRCA-US 7 43591895 43591895 single base substitution C A synonymous_variant I1456I 4368C>A BRCA-US 7 43591895 43591895 single base substitution C A synonymous_variant I1490I 4470C>A BRCA-US 7 43591930 43591930 single base substitution G A missense_variant R1468Q 4403G>A BRCA-US 7 43591930 43591930 single base substitution G A missense_variant R1502Q 4505G>A BRCA-US 7 43601517 43601517 single base substitution C A missense_variant L1571I 4711C>A BRCA-US 7 43601517 43601517 single base substitution C A missense_variant L1605I 4813C>A BTCA-JP 7 43190537 43190537 single base substitution C T intron_variant BTCA-JP 7 43283526 43283526 single base substitution G C intron_variant BTCA-JP 7 43283526 43283526 single base substitution G C missense_variant V8L 22G>C BTCA-JP 7 43283526 43283526 single base substitution G C upstream_gene_variant BTCA-JP 7 43283573 43283573 single base substitution T C intron_variant BTCA-JP 7 43283573 43283573 single base substitution T C upstream_gene_variant BTCA-JP 7 43351202 43351202 single base substitution T G intron_variant BTCA-JP 7 43351269 43351269 single base substitution G A intron_variant BTCA-JP 7 43351431 43351431 single base substitution C T exon_variant BTCA-JP 7 43351431 43351431 single base substitution C T missense_variant R33C 97C>T BTCA-JP 7 43351579 43351579 single base substitution T A exon_variant BTCA-JP 7 43351579 43351579 single base substitution T A missense_variant M82K 245T>A BTCA-JP 7 43360328 43360328 single base substitution G A exon_variant BTCA-JP 7 43360328 43360328 single base substitution G A synonymous_variant S149S 447G>A BTCA-JP 7 43484487 43484487 single base substitution C T downstream_gene_variant BTCA-JP 7 43484487 43484487 single base substitution C T synonymous_variant S572S 1716C>T BTCA-JP 7 43484525 43484525 single base substitution C A downstream_gene_variant BTCA-JP 7 43484525 43484525 single base substitution C A missense_variant A585E 1754C>A BTCA-JP 7 43484671 43484671 single base substitution G A downstream_gene_variant BTCA-JP 7 43484671 43484671 single base substitution G A missense_variant G634R 1900G>A BTCA-JP 7 43503341 43503341 single base substitution G C missense_variant G878R 2632G>C BTCA-JP 7 43503341 43503341 single base substitution G C missense_variant G912R 2734G>C BTCA-JP 7 43503387 43503387 single base substitution A G missense_variant Q893R 2678A>G BTCA-JP 7 43503387 43503387 single base substitution A G missense_variant Q927R 2780A>G BTCA-JP 7 43540937 43540937 single base substitution C T intron_variant CESC-US 7 43351605 43351605 single base substitution G A downstream_gene_variant CESC-US 7 43351605 43351605 single base substitution G A exon_variant CESC-US 7 43351605 43351605 single base substitution G A missense_variant G91R 271G>A CESC-US 7 43447187 43447187 single base substitution G C exon_variant CESC-US 7 43447187 43447187 single base substitution G C missense_variant G220R 658G>C CESC-US 7 43484020 43484020 single base substitution G T downstream_gene_variant CESC-US 7 43484020 43484020 single base substitution G T stop_gained E417* 1249G>T CESC-US 7 43484129 43484129 single base substitution C T downstream_gene_variant CESC-US 7 43484129 43484129 single base substitution C T missense_variant P453L 1358C>T CESC-US 7 43484164 43484164 single base substitution G T downstream_gene_variant CESC-US 7 43484164 43484164 single base substitution G T missense_variant G465C 1393G>T CESC-US 7 43484309 43484309 single base substitution C T downstream_gene_variant CESC-US 7 43484309 43484309 single base substitution C T missense_variant S513F 1538C>T CESC-US 7 43484406 43484406 single base substitution G A downstream_gene_variant CESC-US 7 43484406 43484406 single base substitution G A synonymous_variant V545V 1635G>A CESC-US 7 43484575 43484575 single base substitution G A downstream_gene_variant CESC-US 7 43484575 43484575 single base substitution G A missense_variant E602K 1804G>A CESC-US 7 43508528 43508528 single base substitution C T stop_gained R941* 2821C>T CESC-US 7 43508528 43508528 single base substitution C T stop_gained R975* 2923C>T CLLE-ES 7 43155380 43155380 single base substitution C A intron_variant CLLE-ES 7 43165264 43165264 single base substitution G C intron_variant CLLE-ES 7 43175169 43175169 single base substitution G T intron_variant CLLE-ES 7 43178615 43178615 single base substitution T C intron_variant CLLE-ES 7 43186525 43186525 single base substitution G A intron_variant CLLE-ES 7 43187083 43187083 single base substitution G A intron_variant CLLE-ES 7 43198419 43198419 single base substitution T A intron_variant CLLE-ES 7 43200011 43200011 single base substitution T C intron_variant CLLE-ES 7 43206602 43206602 single base substitution A G intron_variant CLLE-ES 7 43212945 43212945 single base substitution G A intron_variant CLLE-ES 7 43230340 43230340 single base substitution C T intron_variant CLLE-ES 7 43239958 43239958 single base substitution G A intron_variant CLLE-ES 7 43253084 43253084 single base substitution G A intron_variant CLLE-ES 7 43275812 43275812 single base substitution C T intron_variant CLLE-ES 7 43281453 43281453 single base substitution A C intron_variant CLLE-ES 7 43282493 43282493 single base substitution C A intron_variant CLLE-ES 7 43282532 43282532 single base substitution G A intron_variant CLLE-ES 7 43293653 43293653 single base substitution T C intron_variant CLLE-ES 7 43314490 43314490 single base substitution T C intron_variant CLLE-ES 7 43320399 43320399 single base substitution C T intron_variant CLLE-ES 7 43322648 43322648 single base substitution C A intron_variant CLLE-ES 7 43322872 43322872 single base substitution C T intron_variant CLLE-ES 7 43323579 43323579 single base substitution G A intron_variant CLLE-ES 7 43324028 43324028 single base substitution G T intron_variant CLLE-ES 7 43344883 43344883 single base substitution G T intron_variant CLLE-ES 7 43346653 43346653 single base substitution C T intron_variant CLLE-ES 7 43360297 43360297 single base substitution G A exon_variant CLLE-ES 7 43360297 43360297 single base substitution G A missense_variant G139D 416G>A CLLE-ES 7 43366800 43366800 single base substitution C T intron_variant CLLE-ES 7 43375769 43375769 single base substitution C T intron_variant CLLE-ES 7 43384312 43384312 single base substitution C A intron_variant CLLE-ES 7 43415771 43415771 single base substitution A G intron_variant CLLE-ES 7 43415771 43415771 single base substitution A G upstream_gene_variant CLLE-ES 7 43426208 43426208 single base substitution T C intron_variant CLLE-ES 7 43427096 43427096 single base substitution C T intron_variant CLLE-ES 7 43429679 43429679 single base substitution C A intron_variant CLLE-ES 7 43438036 43438036 single base substitution T C intron_variant CLLE-ES 7 43449845 43449845 single base substitution C T downstream_gene_variant CLLE-ES 7 43449845 43449845 single base substitution C T intron_variant CLLE-ES 7 43450332 43450332 single base substitution C T downstream_gene_variant CLLE-ES 7 43450332 43450332 single base substitution C T intron_variant CLLE-ES 7 43467280 43467280 single base substitution C A intron_variant CLLE-ES 7 43489970 43489970 single base substitution C A intron_variant CLLE-ES 7 43505739 43505742 deletion of <=200bp AGAG - intron_variant CLLE-ES 7 43513965 43513965 single base substitution G A intron_variant CLLE-ES 7 43519869 43519869 single base substitution C A intron_variant CLLE-ES 7 43546774 43546774 single base substitution C T intron_variant CLLE-ES 7 43546774 43546774 single base substitution C T stop_gained R1190* 3568C>T CLLE-ES 7 43546774 43546774 single base substitution C T stop_gained R1224* 3670C>T CLLE-ES 7 43548589 43548589 single base substitution G A intron_variant CLLE-ES 7 43548589 43548589 single base substitution G A synonymous_variant S1262S 3786G>A CLLE-ES 7 43548589 43548589 single base substitution G A synonymous_variant S1296S 3888G>A CLLE-ES 7 43549453 43549453 single base substitution A G intron_variant CLLE-ES 7 43587445 43587445 single base substitution G A intron_variant CLLE-ES 7 43589744 43589744 single base substitution A G intron_variant CLLE-ES 7 43597332 43597332 single base substitution C T intron_variant CLLE-ES 7 43604646 43604646 single base substitution A G 3_prime_UTR_variant CLLE-ES 7 43604646 43604646 single base substitution A G downstream_gene_variant COAD-US 7 43351430 43351430 single base substitution A G exon_variant COAD-US 7 43351430 43351430 single base substitution A G synonymous_variant R32R 96A>G COAD-US 7 43351508 43351508 single base substitution C T exon_variant COAD-US 7 43351508 43351508 single base substitution C T synonymous_variant H58H 174C>T COAD-US 7 43351528 43351528 single base substitution G A exon_variant COAD-US 7 43351528 43351528 single base substitution G A missense_variant R65H 194G>A COAD-US 7 43447190 43447190 single base substitution A G exon_variant COAD-US 7 43447190 43447190 single base substitution A G missense_variant M221V 661A>G COAD-US 7 43447193 43447193 single base substitution T C exon_variant COAD-US 7 43447193 43447193 single base substitution T C missense_variant F222L 664T>C COAD-US 7 43447303 43447303 single base substitution C A exon_variant COAD-US 7 43447303 43447303 single base substitution C A missense_variant N258K 774C>A COAD-US 7 43447326 43447326 single base substitution C T exon_variant COAD-US 7 43447326 43447326 single base substitution C T missense_variant A266V 797C>T COAD-US 7 43477604 43477604 single base substitution A G splice_region_variant COAD-US 7 43477673 43477673 single base substitution C T exon_variant COAD-US 7 43477673 43477673 single base substitution C T synonymous_variant R291R 873C>T COAD-US 7 43484122 43484122 single base substitution C T downstream_gene_variant COAD-US 7 43484122 43484122 single base substitution C T missense_variant P451S 1351C>T COAD-US 7 43484180 43484180 single base substitution C T downstream_gene_variant COAD-US 7 43484180 43484180 single base substitution C T missense_variant A470V 1409C>T COAD-US 7 43484497 43484497 single base substitution G A downstream_gene_variant COAD-US 7 43484497 43484497 single base substitution G A missense_variant G576S 1726G>A COAD-US 7 43484505 43484505 single base substitution G A downstream_gene_variant COAD-US 7 43484505 43484505 single base substitution G A synonymous_variant A578A 1734G>A COAD-US 7 43484520 43484520 single base substitution C T downstream_gene_variant COAD-US 7 43484520 43484520 single base substitution C T synonymous_variant D583D 1749C>T COAD-US 7 43484524 43484524 single base substitution G A downstream_gene_variant COAD-US 7 43484524 43484524 single base substitution G A missense_variant A585T 1753G>A COAD-US 7 43484556 43484556 single base substitution G A downstream_gene_variant COAD-US 7 43484556 43484556 single base substitution G A synonymous_variant S595S 1785G>A COAD-US 7 43484586 43484586 single base substitution G A downstream_gene_variant COAD-US 7 43484586 43484586 single base substitution G A synonymous_variant T605T 1815G>A COAD-US 7 43484716 43484716 single base substitution G A downstream_gene_variant COAD-US 7 43484716 43484716 single base substitution G A missense_variant D649N 1945G>A COAD-US 7 43484740 43484740 single base substitution G A downstream_gene_variant COAD-US 7 43484740 43484740 single base substitution G A missense_variant E657K 1969G>A COAD-US 7 43484837 43484837 single base substitution G T downstream_gene_variant COAD-US 7 43484837 43484837 single base substitution G T missense_variant S689I 2066G>T COAD-US 7 43485092 43485092 single base substitution C T downstream_gene_variant COAD-US 7 43485092 43485092 single base substitution C T missense_variant A774V 2321C>T COAD-US 7 43495895 43495895 single base substitution G C splice_acceptor_variant COAD-US 7 43503342 43503342 single base substitution G C missense_variant G878A 2633G>C COAD-US 7 43503342 43503342 single base substitution G C missense_variant G912A 2735G>C COAD-US 7 43503349 43503349 single base substitution C T synonymous_variant G880G 2640C>T COAD-US 7 43503349 43503349 single base substitution C T synonymous_variant G914G 2742C>T COAD-US 7 43503371 43503371 single base substitution G T stop_gained E888* 2662G>T COAD-US 7 43503371 43503371 single base substitution G T stop_gained E922* 2764G>T COAD-US 7 43508601 43508601 single base substitution G A missense_variant R965H 2894G>A COAD-US 7 43508601 43508601 single base substitution G A missense_variant R999H 2996G>A COAD-US 7 43508615 43508615 single base substitution C T missense_variant R1004W 3010C>T COAD-US 7 43508615 43508615 single base substitution C T missense_variant R970W 2908C>T COAD-US 7 43519212 43519212 single base substitution T G exon_variant COAD-US 7 43519212 43519212 single base substitution T G missense_variant F1001V 3001T>G COAD-US 7 43519212 43519212 single base substitution T G missense_variant F1035V 3103T>G COAD-US 7 43519212 43519212 single base substitution T G upstream_gene_variant COAD-US 7 43519337 43519337 single base substitution T C exon_variant COAD-US 7 43519337 43519337 single base substitution T C synonymous_variant A1042A 3126T>C COAD-US 7 43519337 43519337 single base substitution T C synonymous_variant A1076A 3228T>C COAD-US 7 43519337 43519337 single base substitution T C synonymous_variant A28A 84T>C COAD-US 7 43546798 43546798 single base substitution C T intron_variant COAD-US 7 43546798 43546798 single base substitution C T missense_variant R1198C 3592C>T COAD-US 7 43546798 43546798 single base substitution C T missense_variant R1232C 3694C>T COAD-US 7 43548644 43548645 deletion of <=200bp TT - frameshift_variant F1281 COAD-US 7 43548644 43548645 deletion of <=200bp TT - frameshift_variant F1315 COAD-US 7 43548644 43548645 deletion of <=200bp TT - intron_variant COAD-US 7 43594234 43594234 single base substitution G A synonymous_variant A1484A 4452G>A COAD-US 7 43594234 43594234 single base substitution G A synonymous_variant A1518A 4554G>A COAD-US 7 43594242 43594242 single base substitution G A missense_variant R1487H 4460G>A COAD-US 7 43594242 43594242 single base substitution G A missense_variant R1521H 4562G>A COAD-US 7 43594343 43594343 single base substitution C T missense_variant R1521W 4561C>T COAD-US 7 43594343 43594343 single base substitution C T missense_variant R1555W 4663C>T COAD-US 7 43601487 43601487 single base substitution A G missense_variant T1561A 4681A>G COAD-US 7 43601487 43601487 single base substitution A G missense_variant T1595A 4783A>G COCA-CN 7 43149961 43149961 single base substitution G A upstream_gene_variant COCA-CN 7 43152553 43152553 single base substitution C T intron_variant COCA-CN 7 43152553 43152553 single base substitution C T upstream_gene_variant COCA-CN 7 43165076 43165076 single base substitution T C intron_variant COCA-CN 7 43172052 43172052 single base substitution G A intron_variant COCA-CN 7 43172287 43172287 single base substitution G A intron_variant COCA-CN 7 43175095 43175095 single base substitution C T intron_variant COCA-CN 7 43182384 43182384 single base substitution T C intron_variant COCA-CN 7 43192515 43192515 single base substitution G A intron_variant COCA-CN 7 43198683 43198683 single base substitution C T intron_variant COCA-CN 7 43207645 43207645 single base substitution G A intron_variant COCA-CN 7 43211759 43211759 single base substitution T G intron_variant COCA-CN 7 43215447 43215447 single base substitution C T intron_variant COCA-CN 7 43223404 43223404 single base substitution G A intron_variant COCA-CN 7 43223619 43223619 single base substitution A T intron_variant COCA-CN 7 43235138 43235138 single base substitution T C intron_variant COCA-CN 7 43236710 43236710 single base substitution C T intron_variant COCA-CN 7 43237127 43237127 single base substitution G A intron_variant COCA-CN 7 43245496 43245496 single base substitution C T intron_variant COCA-CN 7 43252251 43252251 single base substitution A T intron_variant COCA-CN 7 43273623 43273623 single base substitution G A intron_variant COCA-CN 7 43283197 43283197 single base substitution G A intron_variant COCA-CN 7 43283197 43283197 single base substitution G A upstream_gene_variant COCA-CN 7 43312920 43312920 single base substitution A T intron_variant COCA-CN 7 43316339 43316339 single base substitution T C intron_variant COCA-CN 7 43320228 43320228 single base substitution G T intron_variant COCA-CN 7 43331500 43331500 single base substitution G A intron_variant COCA-CN 7 43339261 43339261 single base substitution A T intron_variant COCA-CN 7 43340704 43340704 single base substitution G A intron_variant COCA-CN 7 43351295 43351295 single base substitution C T intron_variant COCA-CN 7 43351500 43351500 single base substitution G A exon_variant COCA-CN 7 43351500 43351500 single base substitution G A missense_variant G56S 166G>A COCA-CN 7 43355084 43355084 single base substitution T C downstream_gene_variant COCA-CN 7 43355084 43355084 single base substitution T C intron_variant COCA-CN 7 43360397 43360397 single base substitution C T intron_variant COCA-CN 7 43365154 43365154 single base substitution G A intron_variant COCA-CN 7 43367588 43367588 single base substitution T C intron_variant COCA-CN 7 43370581 43370581 single base substitution T G intron_variant COCA-CN 7 43370960 43370960 single base substitution C T intron_variant COCA-CN 7 43376616 43376616 single base substitution G A intron_variant COCA-CN 7 43382166 43382166 single base substitution T A intron_variant COCA-CN 7 43385400 43385400 single base substitution C T intron_variant COCA-CN 7 43392837 43392837 single base substitution G A intron_variant COCA-CN 7 43405410 43405410 single base substitution C T intron_variant COCA-CN 7 43407628 43407628 single base substitution G C intron_variant COCA-CN 7 43417649 43417649 single base substitution A T intron_variant COCA-CN 7 43429982 43429982 single base substitution T A intron_variant COCA-CN 7 43430999 43430999 single base substitution C T intron_variant COCA-CN 7 43434482 43434482 single base substitution C T intron_variant COCA-CN 7 43434482 43434482 single base substitution C T upstream_gene_variant COCA-CN 7 43452259 43452259 single base substitution G C downstream_gene_variant COCA-CN 7 43452259 43452259 single base substitution G C intron_variant COCA-CN 7 43457152 43457152 single base substitution C G intron_variant COCA-CN 7 43459839 43459839 single base substitution T G intron_variant COCA-CN 7 43463401 43463401 single base substitution C T intron_variant COCA-CN 7 43470412 43470412 single base substitution G A intron_variant COCA-CN 7 43473641 43473641 single base substitution T A intron_variant COCA-CN 7 43475358 43475358 single base substitution A T intron_variant COCA-CN 7 43477016 43477016 single base substitution C T intron_variant COCA-CN 7 43482208 43482208 single base substitution T C downstream_gene_variant COCA-CN 7 43482208 43482208 single base substitution T C missense_variant I342T 1025T>C COCA-CN 7 43482385 43482385 single base substitution A C downstream_gene_variant COCA-CN 7 43482385 43482385 single base substitution A C intron_variant COCA-CN 7 43483842 43483842 single base substitution C T downstream_gene_variant COCA-CN 7 43483842 43483842 single base substitution C T synonymous_variant T357T 1071C>T COCA-CN 7 43483948 43483948 single base substitution C T downstream_gene_variant COCA-CN 7 43483948 43483948 single base substitution C T missense_variant P393S 1177C>T COCA-CN 7 43484258 43484258 single base substitution G A downstream_gene_variant COCA-CN 7 43484258 43484258 single base substitution G A missense_variant R496Q 1487G>A COCA-CN 7 43484487 43484487 single base substitution C T downstream_gene_variant COCA-CN 7 43484487 43484487 single base substitution C T synonymous_variant S572S 1716C>T COCA-CN 7 43484574 43484574 single base substitution C T downstream_gene_variant COCA-CN 7 43484574 43484574 single base substitution C T synonymous_variant S601S 1803C>T COCA-CN 7 43484600 43484600 single base substitution C T downstream_gene_variant COCA-CN 7 43484600 43484600 single base substitution C T missense_variant P610L 1829C>T COCA-CN 7 43484670 43484670 single base substitution C T downstream_gene_variant COCA-CN 7 43484670 43484670 single base substitution C T synonymous_variant S633S 1899C>T COCA-CN 7 43484792 43484792 single base substitution A G downstream_gene_variant COCA-CN 7 43484792 43484792 single base substitution A G missense_variant D674G 2021A>G COCA-CN 7 43484882 43484882 single base substitution G A downstream_gene_variant COCA-CN 7 43484882 43484882 single base substitution G A missense_variant S704N 2111G>A COCA-CN 7 43485009 43485009 single base substitution C T downstream_gene_variant COCA-CN 7 43485009 43485009 single base substitution C T synonymous_variant F746F 2238C>T COCA-CN 7 43485084 43485084 single base substitution C T downstream_gene_variant COCA-CN 7 43485084 43485084 single base substitution C T synonymous_variant D771D 2313C>T COCA-CN 7 43485123 43485123 single base substitution G A downstream_gene_variant COCA-CN 7 43485123 43485123 single base substitution G A synonymous_variant P784P 2352G>A COCA-CN 7 43490476 43490476 single base substitution C G intron_variant COCA-CN 7 43490476 43490476 single base substitution C G synonymous_variant S816S 2448C>G COCA-CN 7 43503085 43503085 single base substitution C A intron_variant COCA-CN 7 43507803 43507803 single base substitution T C intron_variant COCA-CN 7 43508704 43508704 single base substitution G T missense_variant K1033N 3099G>T COCA-CN 7 43508704 43508704 single base substitution G T missense_variant K999N 2997G>T COCA-CN 7 43519204 43519204 single base substitution C T splice_region_variant COCA-CN 7 43519204 43519204 single base substitution C T upstream_gene_variant COCA-CN 7 43521477 43521477 single base substitution C T intron_variant COCA-CN 7 43521746 43521746 single base substitution C A intron_variant COCA-CN 7 43527253 43527253 single base substitution C T downstream_gene_variant COCA-CN 7 43527253 43527253 single base substitution C T intron_variant COCA-CN 7 43527581 43527581 single base substitution G A downstream_gene_variant COCA-CN 7 43527581 43527581 single base substitution G A intron_variant COCA-CN 7 43531585 43531585 single base substitution C A intron_variant COCA-CN 7 43531746 43531746 single base substitution C T intron_variant COCA-CN 7 43531746 43531746 single base substitution C T stop_gained R1069* 3205C>T COCA-CN 7 43531746 43531746 single base substitution C T stop_gained R1103* 3307C>T COCA-CN 7 43532709 43532709 single base substitution C A intron_variant COCA-CN 7 43532709 43532709 single base substitution C A missense_variant L1089I 3265C>A COCA-CN 7 43532709 43532709 single base substitution C A missense_variant L1123I 3367C>A COCA-CN 7 43532789 43532789 single base substitution G A intron_variant COCA-CN 7 43538753 43538753 single base substitution G A intron_variant COCA-CN 7 43540301 43540301 single base substitution G A intron_variant COCA-CN 7 43540301 43540301 single base substitution G A synonymous_variant E1113E 3339G>A COCA-CN 7 43540301 43540301 single base substitution G A synonymous_variant E1147E 3441G>A COCA-CN 7 43540360 43540360 single base substitution C T intron_variant COCA-CN 7 43540360 43540360 single base substitution C T missense_variant A1133V 3398C>T COCA-CN 7 43540360 43540360 single base substitution C T missense_variant A1167V 3500C>T COCA-CN 7 43545540 43545540 single base substitution C T intron_variant COCA-CN 7 43556007 43556007 single base substitution T G intron_variant COCA-CN 7 43580628 43580628 single base substitution C T intron_variant COCA-CN 7 43580635 43580635 single base substitution C A intron_variant COCA-CN 7 43580861 43580861 single base substitution G T splice_donor_variant COCA-CN 7 43586229 43586229 single base substitution C A downstream_gene_variant COCA-CN 7 43586229 43586229 single base substitution C A intron_variant COCA-CN 7 43587017 43587017 single base substitution G A intron_variant COCA-CN 7 43590176 43590176 single base substitution C T missense_variant R1427C 4279C>T COCA-CN 7 43590176 43590176 single base substitution C T missense_variant R1461C 4381C>T COCA-CN 7 43591759 43591759 single base substitution A G intron_variant COCA-CN 7 43594233 43594233 single base substitution C T missense_variant A1484V 4451C>T COCA-CN 7 43594233 43594233 single base substitution C T missense_variant A1518V 4553C>T EOPC-DE 7 43257565 43257565 single base substitution G C intron_variant EOPC-DE 7 43310822 43310822 single base substitution A G intron_variant EOPC-DE 7 43463895 43463895 single base substitution G T intron_variant EOPC-DE 7 43493071 43493071 single base substitution A T intron_variant EOPC-DE 7 43531119 43531119 single base substitution T C intron_variant ESAD-UK 7 43147533 43147533 single base substitution T C upstream_gene_variant ESAD-UK 7 43147643 43147643 single base substitution A T upstream_gene_variant ESAD-UK 7 43147836 43147836 single base substitution A C upstream_gene_variant ESAD-UK 7 43147836 43147836 single base substitution A T upstream_gene_variant ESAD-UK 7 43148007 43148007 single base substitution A C upstream_gene_variant ESAD-UK 7 43148160 43148160 single base substitution T G upstream_gene_variant ESAD-UK 7 43148503 43148503 single base substitution A C upstream_gene_variant ESAD-UK 7 43148513 43148513 single base substitution T C upstream_gene_variant ESAD-UK 7 43149070 43149070 single base substitution A G upstream_gene_variant ESAD-UK 7 43150195 43150195 single base substitution C A upstream_gene_variant ESAD-UK 7 43150516 43150516 single base substitution T G upstream_gene_variant ESAD-UK 7 43150586 43150586 single base substitution C G upstream_gene_variant ESAD-UK 7 43150687 43150687 single base substitution A C upstream_gene_variant ESAD-UK 7 43150746 43150746 single base substitution A C upstream_gene_variant ESAD-UK 7 43151210 43151210 single base substitution G T upstream_gene_variant ESAD-UK 7 43151373 43151373 single base substitution A T upstream_gene_variant ESAD-UK 7 43151943 43151943 single base substitution C G upstream_gene_variant ESAD-UK 7 43152494 43152494 single base substitution C T 5_prime_UTR_variant ESAD-UK 7 43152494 43152494 single base substitution C T exon_variant ESAD-UK 7 43152494 43152494 single base substitution C T upstream_gene_variant ESAD-UK 7 43152583 43152583 single base substitution C T intron_variant ESAD-UK 7 43152583 43152583 single base substitution C T upstream_gene_variant ESAD-UK 7 43153360 43153360 single base substitution C T exon_variant ESAD-UK 7 43153360 43153360 single base substitution C T intron_variant ESAD-UK 7 43153735 43153735 single base substitution T C exon_variant ESAD-UK 7 43153735 43153735 single base substitution T C intron_variant ESAD-UK 7 43153878 43153878 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 7 43153878 43153878 single base substitution C T exon_variant ESAD-UK 7 43153878 43153878 single base substitution C T intron_variant ESAD-UK 7 43155626 43155626 single base substitution A C intron_variant ESAD-UK 7 43156148 43156148 single base substitution A C intron_variant ESAD-UK 7 43156913 43156913 single base substitution T C intron_variant ESAD-UK 7 43158246 43158246 single base substitution T G intron_variant ESAD-UK 7 43158750 43158750 single base substitution C T intron_variant ESAD-UK 7 43159077 43159077 single base substitution A G intron_variant ESAD-UK 7 43159354 43159354 single base substitution C A intron_variant ESAD-UK 7 43159355 43159355 single base substitution A C intron_variant ESAD-UK 7 43159823 43159823 single base substitution G T intron_variant ESAD-UK 7 43160610 43160610 single base substitution G A intron_variant ESAD-UK 7 43160657 43160657 single base substitution C T intron_variant ESAD-UK 7 43160677 43160677 single base substitution G C intron_variant ESAD-UK 7 43160939 43160939 single base substitution C G intron_variant ESAD-UK 7 43161058 43161058 single base substitution G A intron_variant ESAD-UK 7 43161829 43161829 single base substitution A C intron_variant ESAD-UK 7 43161987 43161987 single base substitution T G intron_variant ESAD-UK 7 43162609 43162609 single base substitution T A intron_variant ESAD-UK 7 43162873 43162873 single base substitution G A intron_variant ESAD-UK 7 43163216 43163216 single base substitution A C intron_variant ESAD-UK 7 43163216 43163216 single base substitution A G intron_variant ESAD-UK 7 43163216 43163216 single base substitution A T intron_variant ESAD-UK 7 43163520 43163520 single base substitution A T intron_variant ESAD-UK 7 43163733 43163733 single base substitution C T intron_variant ESAD-UK 7 43164753 43164753 single base substitution A C intron_variant ESAD-UK 7 43165200 43165200 insertion of <=200bp - A intron_variant ESAD-UK 7 43165206 43165206 single base substitution A C intron_variant ESAD-UK 7 43165443 43165443 single base substitution T A intron_variant ESAD-UK 7 43166177 43166177 single base substitution A T intron_variant ESAD-UK 7 43166215 43166215 single base substitution T C intron_variant ESAD-UK 7 43166354 43166354 single base substitution T A intron_variant ESAD-UK 7 43166354 43166354 single base substitution T G intron_variant ESAD-UK 7 43166495 43166495 single base substitution G A intron_variant ESAD-UK 7 43166639 43166639 single base substitution G A intron_variant ESAD-UK 7 43166657 43166657 single base substitution T A intron_variant ESAD-UK 7 43166814 43166814 single base substitution T C intron_variant ESAD-UK 7 43166844 43166844 single base substitution C T intron_variant ESAD-UK 7 43167759 43167759 single base substitution G A intron_variant ESAD-UK 7 43167805 43167805 single base substitution A C intron_variant ESAD-UK 7 43167895 43167895 single base substitution A C intron_variant ESAD-UK 7 43167931 43167931 single base substitution G C intron_variant ESAD-UK 7 43168199 43168199 single base substitution A G intron_variant ESAD-UK 7 43168269 43168269 single base substitution C A intron_variant ESAD-UK 7 43168485 43168485 single base substitution G A intron_variant ESAD-UK 7 43168572 43168572 single base substitution A C intron_variant ESAD-UK 7 43168685 43168685 single base substitution G T intron_variant ESAD-UK 7 43168849 43168849 single base substitution T G intron_variant ESAD-UK 7 43168957 43168957 single base substitution A C intron_variant ESAD-UK 7 43169005 43169005 single base substitution A C intron_variant ESAD-UK 7 43169012 43169012 single base substitution T G intron_variant ESAD-UK 7 43169313 43169313 single base substitution C A intron_variant ESAD-UK 7 43169392 43169392 single base substitution A G intron_variant ESAD-UK 7 43169572 43169572 insertion of <=200bp - T intron_variant ESAD-UK 7 43169602 43169602 single base substitution G A intron_variant ESAD-UK 7 43169842 43169842 single base substitution T G intron_variant ESAD-UK 7 43170542 43170542 single base substitution T G intron_variant ESAD-UK 7 43170897 43170897 single base substitution A C intron_variant ESAD-UK 7 43171420 43171420 single base substitution G A intron_variant ESAD-UK 7 43172506 43172506 single base substitution C A intron_variant ESAD-UK 7 43172960 43172960 single base substitution C A intron_variant ESAD-UK 7 43173425 43173425 single base substitution A T intron_variant ESAD-UK 7 43174080 43174080 single base substitution T G intron_variant ESAD-UK 7 43174231 43174231 single base substitution A C intron_variant ESAD-UK 7 43174326 43174326 single base substitution T A intron_variant ESAD-UK 7 43174374 43174374 single base substitution T A intron_variant ESAD-UK 7 43174374 43174374 single base substitution T G intron_variant ESAD-UK 7 43174838 43174838 single base substitution T C intron_variant ESAD-UK 7 43174850 43174850 single base substitution A C intron_variant ESAD-UK 7 43175020 43175020 single base substitution A C intron_variant ESAD-UK 7 43175042 43175042 single base substitution A T intron_variant ESAD-UK 7 43175413 43175413 single base substitution T C intron_variant ESAD-UK 7 43175464 43175464 insertion of <=200bp - T intron_variant ESAD-UK 7 43175673 43175673 single base substitution T G intron_variant ESAD-UK 7 43176336 43176336 single base substitution A C intron_variant ESAD-UK 7 43176618 43176618 single base substitution A T intron_variant ESAD-UK 7 43176793 43176793 single base substitution T G intron_variant ESAD-UK 7 43177006 43177006 single base substitution T C intron_variant ESAD-UK 7 43177319 43177319 single base substitution T C intron_variant ESAD-UK 7 43177360 43177360 single base substitution G C intron_variant ESAD-UK 7 43177813 43177813 single base substitution G A intron_variant ESAD-UK 7 43178123 43178123 single base substitution G T intron_variant ESAD-UK 7 43178578 43178578 single base substitution G T intron_variant ESAD-UK 7 43178791 43178791 single base substitution C T intron_variant ESAD-UK 7 43178928 43178928 single base substitution A C intron_variant ESAD-UK 7 43179305 43179305 single base substitution G T intron_variant ESAD-UK 7 43179306 43179306 single base substitution T G intron_variant ESAD-UK 7 43179408 43179408 single base substitution A G intron_variant ESAD-UK 7 43179495 43179495 single base substitution C T intron_variant ESAD-UK 7 43180126 43180126 single base substitution T C intron_variant ESAD-UK 7 43180188 43180188 single base substitution G A intron_variant ESAD-UK 7 43180324 43180324 single base substitution A C intron_variant ESAD-UK 7 43181013 43181013 single base substitution G T intron_variant ESAD-UK 7 43181387 43181387 single base substitution G A intron_variant ESAD-UK 7 43181499 43181499 single base substitution A T intron_variant ESAD-UK 7 43181932 43181932 single base substitution G A intron_variant ESAD-UK 7 43182736 43182736 single base substitution A C intron_variant ESAD-UK 7 43183797 43183797 single base substitution T C intron_variant ESAD-UK 7 43184152 43184152 single base substitution T A intron_variant ESAD-UK 7 43184178 43184178 single base substitution A C intron_variant ESAD-UK 7 43184339 43184339 single base substitution T C intron_variant ESAD-UK 7 43184343 43184343 single base substitution C T intron_variant ESAD-UK 7 43185132 43185132 single base substitution A C intron_variant ESAD-UK 7 43185143 43185143 single base substitution C T intron_variant ESAD-UK 7 43185480 43185480 single base substitution T C intron_variant ESAD-UK 7 43186081 43186081 single base substitution A C intron_variant ESAD-UK 7 43186161 43186161 single base substitution A T intron_variant ESAD-UK 7 43186498 43186498 single base substitution A C intron_variant ESAD-UK 7 43186967 43186967 single base substitution A G intron_variant ESAD-UK 7 43187333 43187333 single base substitution A C intron_variant ESAD-UK 7 43187333 43187333 single base substitution A G intron_variant ESAD-UK 7 43187492 43187492 single base substitution A C intron_variant ESAD-UK 7 43187615 43187615 single base substitution G A intron_variant ESAD-UK 7 43187677 43187677 single base substitution A G intron_variant ESAD-UK 7 43187702 43187702 single base substitution A G intron_variant ESAD-UK 7 43187741 43187741 single base substitution A G intron_variant ESAD-UK 7 43188264 43188264 single base substitution A C intron_variant ESAD-UK 7 43188323 43188323 single base substitution A G intron_variant ESAD-UK 7 43188451 43188451 single base substitution T G intron_variant ESAD-UK 7 43188640 43188640 single base substitution A C intron_variant ESAD-UK 7 43189196 43189196 single base substitution G T intron_variant ESAD-UK 7 43189491 43189491 deletion of <=200bp A - intron_variant ESAD-UK 7 43189491 43189491 insertion of <=200bp - A intron_variant ESAD-UK 7 43189515 43189515 single base substitution T G intron_variant ESAD-UK 7 43189543 43189543 single base substitution T G intron_variant ESAD-UK 7 43189646 43189646 single base substitution T C intron_variant ESAD-UK 7 43189716 43189716 single base substitution T G intron_variant ESAD-UK 7 43189777 43189777 single base substitution A G intron_variant ESAD-UK 7 43189825 43189825 single base substitution T C intron_variant ESAD-UK 7 43190098 43190098 single base substitution C A intron_variant ESAD-UK 7 43190213 43190213 single base substitution A C intron_variant ESAD-UK 7 43190228 43190228 single base substitution T G intron_variant ESAD-UK 7 43190479 43190479 single base substitution T G intron_variant ESAD-UK 7 43190786 43190786 single base substitution A G intron_variant ESAD-UK 7 43190928 43190928 single base substitution A C intron_variant ESAD-UK 7 43190960 43190960 single base substitution T G intron_variant ESAD-UK 7 43191066 43191066 single base substitution G T intron_variant ESAD-UK 7 43191203 43191203 single base substitution G T intron_variant ESAD-UK 7 43191457 43191457 single base substitution A C intron_variant ESAD-UK 7 43192055 43192055 single base substitution T C intron_variant ESAD-UK 7 43192398 43192398 single base substitution G A intron_variant ESAD-UK 7 43192437 43192437 single base substitution C T intron_variant ESAD-UK 7 43192967 43192967 single base substitution T G intron_variant ESAD-UK 7 43193574 43193574 single base substitution A C intron_variant ESAD-UK 7 43194235 43194235 single base substitution A C intron_variant ESAD-UK 7 43195819 43195819 single base substitution C G intron_variant ESAD-UK 7 43195864 43195864 single base substitution G A intron_variant ESAD-UK 7 43195974 43195974 single base substitution T C intron_variant ESAD-UK 7 43196568 43196568 single base substitution A G intron_variant ESAD-UK 7 43197051 43197051 single base substitution T G intron_variant ESAD-UK 7 43197670 43197670 single base substitution G T intron_variant ESAD-UK 7 43198184 43198184 single base substitution A G intron_variant ESAD-UK 7 43198226 43198226 single base substitution T C intron_variant ESAD-UK 7 43198401 43198401 single base substitution G A intron_variant ESAD-UK 7 43198791 43198791 insertion of <=200bp - A intron_variant ESAD-UK 7 43199099 43199099 deletion of <=200bp A - intron_variant ESAD-UK 7 43199530 43199530 single base substitution G A intron_variant ESAD-UK 7 43200700 43200700 single base substitution A G intron_variant ESAD-UK 7 43200863 43200863 single base substitution A G intron_variant ESAD-UK 7 43200957 43200957 single base substitution A C intron_variant ESAD-UK 7 43201048 43201048 single base substitution T G intron_variant ESAD-UK 7 43201849 43201849 single base substitution T A intron_variant ESAD-UK 7 43202557 43202557 single base substitution A C intron_variant ESAD-UK 7 43202597 43202597 single base substitution T C intron_variant ESAD-UK 7 43203422 43203422 single base substitution A C intron_variant ESAD-UK 7 43203492 43203492 single base substitution A C intron_variant ESAD-UK 7 43203772 43203772 single base substitution A C intron_variant ESAD-UK 7 43204119 43204119 single base substitution G A intron_variant ESAD-UK 7 43204240 43204240 single base substitution G T intron_variant ESAD-UK 7 43205473 43205473 single base substitution G A intron_variant ESAD-UK 7 43205644 43205644 single base substitution G A intron_variant ESAD-UK 7 43206151 43206151 single base substitution A G intron_variant ESAD-UK 7 43206325 43206325 single base substitution A C intron_variant ESAD-UK 7 43206443 43206443 single base substitution C A intron_variant ESAD-UK 7 43206549 43206549 single base substitution A C intron_variant ESAD-UK 7 43206907 43206907 single base substitution C A intron_variant ESAD-UK 7 43207458 43207458 single base substitution A C intron_variant ESAD-UK 7 43207664 43207664 single base substitution G A intron_variant ESAD-UK 7 43207719 43207719 single base substitution C T intron_variant ESAD-UK 7 43207766 43207766 single base substitution A T intron_variant ESAD-UK 7 43207968 43207968 single base substitution A T intron_variant ESAD-UK 7 43208034 43208034 deletion of <=200bp A - intron_variant ESAD-UK 7 43208106 43208106 single base substitution T A intron_variant ESAD-UK 7 43208150 43208150 single base substitution T A intron_variant ESAD-UK 7 43208819 43208819 single base substitution G A intron_variant ESAD-UK 7 43209623 43209623 single base substitution C T intron_variant ESAD-UK 7 43209722 43209722 single base substitution C A intron_variant ESAD-UK 7 43210013 43210013 single base substitution A T intron_variant ESAD-UK 7 43210338 43210338 single base substitution T C intron_variant ESAD-UK 7 43210391 43210391 single base substitution G A intron_variant ESAD-UK 7 43210394 43210394 single base substitution C A intron_variant ESAD-UK 7 43210409 43210409 single base substitution A G intron_variant ESAD-UK 7 43211027 43211027 single base substitution C T intron_variant ESAD-UK 7 43211502 43211502 single base substitution A C intron_variant ESAD-UK 7 43211502 43211502 single base substitution A G intron_variant ESAD-UK 7 43211678 43211678 single base substitution A T intron_variant ESAD-UK 7 43211843 43211843 single base substitution A G intron_variant ESAD-UK 7 43212206 43212206 single base substitution A G intron_variant ESAD-UK 7 43212940 43212940 single base substitution A G intron_variant ESAD-UK 7 43213064 43213064 single base substitution T G intron_variant ESAD-UK 7 43213637 43213637 single base substitution G T intron_variant ESAD-UK 7 43213706 43213706 single base substitution C T intron_variant ESAD-UK 7 43213947 43213947 single base substitution G T intron_variant ESAD-UK 7 43214121 43214121 single base substitution A C intron_variant ESAD-UK 7 43214340 43214340 single base substitution A C intron_variant ESAD-UK 7 43214722 43214722 single base substitution A C intron_variant ESAD-UK 7 43215339 43215339 single base substitution C T intron_variant ESAD-UK 7 43215445 43215445 single base substitution G T intron_variant ESAD-UK 7 43215663 43215663 single base substitution T G intron_variant ESAD-UK 7 43216278 43216278 single base substitution A C intron_variant ESAD-UK 7 43216430 43216430 single base substitution C G intron_variant ESAD-UK 7 43216536 43216536 single base substitution G T intron_variant ESAD-UK 7 43216816 43216816 single base substitution A C intron_variant ESAD-UK 7 43217549 43217549 single base substitution G C intron_variant ESAD-UK 7 43217803 43217803 single base substitution C T intron_variant ESAD-UK 7 43218581 43218581 single base substitution A G intron_variant ESAD-UK 7 43219691 43219691 single base substitution A T intron_variant ESAD-UK 7 43219905 43219905 single base substitution T A intron_variant ESAD-UK 7 43219985 43219985 deletion of <=200bp T - intron_variant ESAD-UK 7 43220244 43220244 single base substitution T G intron_variant ESAD-UK 7 43220315 43220315 single base substitution G A intron_variant ESAD-UK 7 43220850 43220850 single base substitution G T intron_variant ESAD-UK 7 43221137 43221137 single base substitution A T intron_variant ESAD-UK 7 43221199 43221199 insertion of <=200bp - T intron_variant ESAD-UK 7 43221544 43221544 single base substitution C A intron_variant ESAD-UK 7 43221869 43221869 single base substitution A C intron_variant ESAD-UK 7 43221869 43221869 single base substitution A G intron_variant ESAD-UK 7 43221943 43221943 single base substitution A C intron_variant ESAD-UK 7 43222179 43222179 single base substitution A C intron_variant ESAD-UK 7 43222507 43222507 single base substitution A T intron_variant ESAD-UK 7 43222930 43222930 single base substitution T G intron_variant ESAD-UK 7 43223028 43223028 single base substitution A C intron_variant ESAD-UK 7 43223030 43223030 single base substitution A C intron_variant ESAD-UK 7 43223559 43223559 insertion of <=200bp - T intron_variant ESAD-UK 7 43224433 43224433 single base substitution T C intron_variant ESAD-UK 7 43224718 43224718 single base substitution A C intron_variant ESAD-UK 7 43224761 43224761 single base substitution A C intron_variant ESAD-UK 7 43224892 43224892 single base substitution C T intron_variant ESAD-UK 7 43224935 43224935 single base substitution A G intron_variant ESAD-UK 7 43224957 43224957 single base substitution T C intron_variant ESAD-UK 7 43225025 43225025 single base substitution A G intron_variant ESAD-UK 7 43225391 43225391 single base substitution A C intron_variant ESAD-UK 7 43225391 43225391 single base substitution A G intron_variant ESAD-UK 7 43225828 43225828 single base substitution G T intron_variant ESAD-UK 7 43227025 43227025 single base substitution T G intron_variant ESAD-UK 7 43227182 43227182 single base substitution T G intron_variant ESAD-UK 7 43227190 43227190 single base substitution T G intron_variant ESAD-UK 7 43227201 43227201 single base substitution T G intron_variant ESAD-UK 7 43227276 43227276 single base substitution T C intron_variant ESAD-UK 7 43227367 43227367 single base substitution G C intron_variant ESAD-UK 7 43227580 43227580 deletion of <=200bp A - intron_variant ESAD-UK 7 43227905 43227905 single base substitution C A intron_variant ESAD-UK 7 43228902 43228902 single base substitution G A intron_variant ESAD-UK 7 43229253 43229253 single base substitution A C intron_variant ESAD-UK 7 43229760 43229760 single base substitution T A intron_variant ESAD-UK 7 43229931 43229931 single base substitution T C intron_variant ESAD-UK 7 43229961 43229961 single base substitution T C intron_variant ESAD-UK 7 43230086 43230086 single base substitution A T intron_variant ESAD-UK 7 43230325 43230325 single base substitution C A intron_variant ESAD-UK 7 43230421 43230421 single base substitution C T intron_variant ESAD-UK 7 43230551 43230551 deletion of <=200bp T - intron_variant ESAD-UK 7 43230713 43230713 single base substitution C T intron_variant ESAD-UK 7 43230791 43230791 single base substitution A G intron_variant ESAD-UK 7 43231133 43231133 single base substitution A G intron_variant ESAD-UK 7 43231626 43231626 single base substitution T G intron_variant ESAD-UK 7 43231776 43231776 single base substitution T C intron_variant ESAD-UK 7 43231827 43231827 single base substitution C G intron_variant ESAD-UK 7 43231926 43231926 single base substitution A G intron_variant ESAD-UK 7 43232112 43232112 single base substitution G A intron_variant ESAD-UK 7 43232211 43232211 single base substitution G A intron_variant ESAD-UK 7 43233161 43233161 single base substitution A C intron_variant ESAD-UK 7 43233597 43233597 single base substitution G C intron_variant ESAD-UK 7 43233842 43233842 single base substitution T C intron_variant ESAD-UK 7 43234414 43234414 single base substitution T C intron_variant ESAD-UK 7 43234419 43234419 single base substitution A C intron_variant ESAD-UK 7 43234419 43234419 single base substitution A G intron_variant ESAD-UK 7 43234419 43234419 single base substitution A T intron_variant ESAD-UK 7 43234460 43234460 single base substitution T G intron_variant ESAD-UK 7 43234543 43234543 single base substitution T G intron_variant ESAD-UK 7 43234559 43234559 single base substitution C T intron_variant ESAD-UK 7 43234812 43234812 single base substitution A C intron_variant ESAD-UK 7 43235597 43235597 single base substitution G A intron_variant ESAD-UK 7 43236097 43236097 single base substitution G A intron_variant ESAD-UK 7 43236578 43236578 single base substitution T C intron_variant ESAD-UK 7 43236604 43236604 single base substitution C T intron_variant ESAD-UK 7 43237050 43237050 single base substitution C T intron_variant ESAD-UK 7 43237115 43237115 single base substitution T C intron_variant ESAD-UK 7 43237175 43237175 single base substitution C A intron_variant ESAD-UK 7 43237186 43237186 single base substitution A T intron_variant ESAD-UK 7 43239248 43239248 single base substitution T C intron_variant ESAD-UK 7 43239728 43239728 single base substitution C A intron_variant ESAD-UK 7 43239771 43239771 single base substitution T C intron_variant ESAD-UK 7 43239980 43239980 single base substitution A C intron_variant ESAD-UK 7 43240037 43240037 single base substitution C A intron_variant ESAD-UK 7 43240689 43240689 single base substitution A C intron_variant ESAD-UK 7 43241122 43241122 single base substitution A C intron_variant ESAD-UK 7 43241149 43241149 single base substitution T G intron_variant ESAD-UK 7 43241425 43241425 single base substitution A C intron_variant ESAD-UK 7 43241889 43241889 single base substitution T A intron_variant ESAD-UK 7 43242141 43242141 single base substitution C T intron_variant ESAD-UK 7 43242883 43242883 single base substitution T G intron_variant ESAD-UK 7 43244725 43244725 single base substitution C T intron_variant ESAD-UK 7 43245164 43245164 single base substitution G T intron_variant ESAD-UK 7 43245169 43245169 single base substitution A C intron_variant ESAD-UK 7 43245234 43245234 single base substitution G A intron_variant ESAD-UK 7 43245436 43245436 single base substitution G A intron_variant ESAD-UK 7 43246188 43246188 single base substitution C T intron_variant ESAD-UK 7 43246589 43246589 single base substitution A G intron_variant ESAD-UK 7 43247418 43247418 single base substitution C A intron_variant ESAD-UK 7 43248329 43248329 single base substitution T G intron_variant ESAD-UK 7 43248337 43248337 single base substitution T A intron_variant ESAD-UK 7 43248636 43248636 single base substitution T A intron_variant ESAD-UK 7 43248650 43248650 single base substitution T C intron_variant ESAD-UK 7 43248761 43248761 single base substitution T G intron_variant ESAD-UK 7 43248852 43248852 single base substitution C T intron_variant ESAD-UK 7 43249020 43249020 single base substitution C T intron_variant ESAD-UK 7 43249021 43249021 single base substitution G A intron_variant ESAD-UK 7 43249161 43249161 single base substitution A C intron_variant ESAD-UK 7 43249922 43249922 single base substitution T G intron_variant ESAD-UK 7 43251220 43251220 single base substitution T G intron_variant ESAD-UK 7 43251232 43251232 single base substitution G A intron_variant ESAD-UK 7 43253211 43253211 single base substitution A C intron_variant ESAD-UK 7 43253355 43253355 single base substitution T A intron_variant ESAD-UK 7 43253900 43253900 single base substitution T C intron_variant ESAD-UK 7 43254355 43254355 single base substitution G A intron_variant ESAD-UK 7 43254538 43254538 single base substitution C T intron_variant ESAD-UK 7 43255293 43255293 single base substitution G T intron_variant ESAD-UK 7 43255667 43255667 single base substitution T A intron_variant ESAD-UK 7 43256205 43256205 single base substitution A G intron_variant ESAD-UK 7 43256868 43256868 single base substitution T G intron_variant ESAD-UK 7 43257169 43257169 single base substitution A C intron_variant ESAD-UK 7 43257564 43257564 single base substitution A C intron_variant ESAD-UK 7 43258030 43258030 single base substitution T G intron_variant ESAD-UK 7 43258831 43258831 single base substitution A T intron_variant ESAD-UK 7 43259638 43259638 single base substitution G A intron_variant ESAD-UK 7 43259827 43259827 single base substitution C A intron_variant ESAD-UK 7 43259966 43259966 single base substitution G A intron_variant ESAD-UK 7 43260522 43260522 single base substitution C G intron_variant ESAD-UK 7 43261796 43261796 single base substitution A C intron_variant ESAD-UK 7 43262207 43262207 single base substitution T G intron_variant ESAD-UK 7 43262235 43262235 single base substitution G A intron_variant ESAD-UK 7 43263066 43263066 single base substitution A C intron_variant ESAD-UK 7 43263161 43263161 single base substitution C T intron_variant ESAD-UK 7 43263628 43263628 single base substitution C A intron_variant ESAD-UK 7 43264061 43264061 single base substitution C A intron_variant ESAD-UK 7 43264172 43264172 single base substitution C G intron_variant ESAD-UK 7 43264653 43264653 single base substitution A C intron_variant ESAD-UK 7 43265404 43265404 single base substitution G T intron_variant ESAD-UK 7 43266511 43266511 single base substitution C A intron_variant ESAD-UK 7 43267339 43267339 single base substitution G T intron_variant ESAD-UK 7 43267359 43267359 single base substitution C T intron_variant ESAD-UK 7 43267410 43267410 single base substitution A C intron_variant ESAD-UK 7 43267512 43267512 single base substitution A C intron_variant ESAD-UK 7 43267928 43267928 single base substitution A C intron_variant ESAD-UK 7 43267978 43267978 single base substitution T C intron_variant ESAD-UK 7 43268261 43268273 deletion of <=200bp AATGAAGCAAAAT - intron_variant ESAD-UK 7 43268470 43268470 single base substitution C T intron_variant ESAD-UK 7 43268483 43268483 single base substitution T A intron_variant ESAD-UK 7 43268763 43268763 single base substitution G T intron_variant ESAD-UK 7 43269488 43269488 single base substitution A C intron_variant ESAD-UK 7 43269515 43269515 single base substitution T C intron_variant ESAD-UK 7 43269539 43269539 single base substitution C G intron_variant ESAD-UK 7 43270257 43270257 single base substitution G T intron_variant ESAD-UK 7 43270631 43270631 single base substitution T G intron_variant ESAD-UK 7 43271293 43271293 single base substitution G A intron_variant ESAD-UK 7 43271353 43271353 single base substitution C T intron_variant ESAD-UK 7 43271880 43271880 single base substitution G A intron_variant ESAD-UK 7 43271914 43271914 single base substitution A C intron_variant ESAD-UK 7 43271925 43271925 single base substitution G T intron_variant ESAD-UK 7 43272805 43272805 deletion of <=200bp A - intron_variant ESAD-UK 7 43273228 43273228 single base substitution G T intron_variant ESAD-UK 7 43273508 43273508 insertion of <=200bp - AG intron_variant ESAD-UK 7 43274338 43274338 single base substitution C G intron_variant ESAD-UK 7 43274469 43274469 single base substitution A C intron_variant ESAD-UK 7 43274655 43274655 single base substitution A G intron_variant ESAD-UK 7 43274659 43274659 single base substitution T G intron_variant ESAD-UK 7 43275284 43275284 single base substitution C G intron_variant ESAD-UK 7 43276553 43276553 single base substitution C T intron_variant ESAD-UK 7 43276841 43276841 single base substitution A G intron_variant ESAD-UK 7 43276883 43276883 single base substitution A C intron_variant ESAD-UK 7 43276885 43276885 single base substitution A C intron_variant ESAD-UK 7 43277378 43277378 single base substitution A G intron_variant ESAD-UK 7 43277393 43277393 single base substitution T G intron_variant ESAD-UK 7 43277410 43277410 single base substitution G A intron_variant ESAD-UK 7 43277481 43277481 single base substitution A C intron_variant ESAD-UK 7 43277483 43277483 single base substitution T C intron_variant ESAD-UK 7 43277757 43277757 single base substitution G A intron_variant ESAD-UK 7 43277900 43277900 single base substitution G C intron_variant ESAD-UK 7 43277935 43277935 single base substitution T G intron_variant ESAD-UK 7 43278368 43278368 single base substitution G A intron_variant ESAD-UK 7 43278679 43278679 single base substitution A G intron_variant ESAD-UK 7 43278901 43278901 single base substitution A C intron_variant ESAD-UK 7 43279040 43279040 single base substitution C T intron_variant ESAD-UK 7 43279358 43279358 single base substitution A C intron_variant ESAD-UK 7 43279362 43279362 single base substitution C T intron_variant ESAD-UK 7 43279708 43279708 single base substitution G A intron_variant ESAD-UK 7 43279810 43279810 single base substitution G A intron_variant ESAD-UK 7 43280347 43280347 single base substitution T G intron_variant ESAD-UK 7 43280728 43280728 single base substitution C T intron_variant ESAD-UK 7 43281504 43281504 single base substitution G A intron_variant ESAD-UK 7 43281775 43281775 single base substitution A G intron_variant ESAD-UK 7 43282194 43282194 single base substitution G T intron_variant ESAD-UK 7 43283149 43283149 single base substitution T C intron_variant ESAD-UK 7 43283243 43283243 single base substitution A C intron_variant ESAD-UK 7 43283243 43283243 single base substitution A C upstream_gene_variant ESAD-UK 7 43283486 43283486 single base substitution G A 5_prime_UTR_variant ESAD-UK 7 43283486 43283486 single base substitution G A intron_variant ESAD-UK 7 43283486 43283486 single base substitution G A upstream_gene_variant ESAD-UK 7 43284534 43284534 single base substitution G C intron_variant ESAD-UK 7 43284534 43284534 single base substitution G C upstream_gene_variant ESAD-UK 7 43285879 43285879 single base substitution G A intron_variant ESAD-UK 7 43285879 43285879 single base substitution G A upstream_gene_variant ESAD-UK 7 43285996 43285996 single base substitution T A intron_variant ESAD-UK 7 43285996 43285996 single base substitution T A upstream_gene_variant ESAD-UK 7 43286499 43286499 single base substitution T C intron_variant ESAD-UK 7 43286499 43286499 single base substitution T C upstream_gene_variant ESAD-UK 7 43286725 43286725 single base substitution C A intron_variant ESAD-UK 7 43286725 43286725 single base substitution C A upstream_gene_variant ESAD-UK 7 43287811 43287811 single base substitution C T intron_variant ESAD-UK 7 43287811 43287811 single base substitution C T upstream_gene_variant ESAD-UK 7 43287912 43287912 single base substitution G C intron_variant ESAD-UK 7 43287912 43287912 single base substitution G C upstream_gene_variant ESAD-UK 7 43288039 43288039 single base substitution C A intron_variant ESAD-UK 7 43288039 43288039 single base substitution C A upstream_gene_variant ESAD-UK 7 43288181 43288181 single base substitution T A intron_variant ESAD-UK 7 43288181 43288181 single base substitution T A upstream_gene_variant ESAD-UK 7 43289091 43289091 single base substitution A C intron_variant ESAD-UK 7 43289415 43289415 single base substitution A G intron_variant ESAD-UK 7 43289497 43289497 single base substitution G A intron_variant ESAD-UK 7 43289669 43289669 single base substitution G A intron_variant ESAD-UK 7 43290688 43290688 single base substitution T G intron_variant ESAD-UK 7 43292947 43292947 single base substitution G A intron_variant ESAD-UK 7 43293052 43293052 single base substitution T G intron_variant ESAD-UK 7 43293351 43293351 insertion of <=200bp - A intron_variant ESAD-UK 7 43293358 43293358 single base substitution T G intron_variant ESAD-UK 7 43293851 43293851 deletion of <=200bp T - intron_variant ESAD-UK 7 43294040 43294040 single base substitution T A intron_variant ESAD-UK 7 43295146 43295146 single base substitution A C intron_variant ESAD-UK 7 43295283 43295283 single base substitution G A intron_variant ESAD-UK 7 43295744 43295744 single base substitution G C intron_variant ESAD-UK 7 43295783 43295783 single base substitution T G intron_variant ESAD-UK 7 43296854 43296854 single base substitution A T intron_variant ESAD-UK 7 43297255 43297255 single base substitution A T intron_variant ESAD-UK 7 43297517 43297517 single base substitution G T intron_variant ESAD-UK 7 43297636 43297636 single base substitution A G intron_variant ESAD-UK 7 43297974 43297974 single base substitution A T intron_variant ESAD-UK 7 43298213 43298213 single base substitution T G exon_variant ESAD-UK 7 43298213 43298213 single base substitution T G intron_variant ESAD-UK 7 43298757 43298757 deletion of <=200bp G - downstream_gene_variant ESAD-UK 7 43298757 43298757 deletion of <=200bp G - intron_variant ESAD-UK 7 43300082 43300082 single base substitution A C downstream_gene_variant ESAD-UK 7 43300082 43300082 single base substitution A C intron_variant ESAD-UK 7 43300092 43300092 single base substitution G C downstream_gene_variant ESAD-UK 7 43300092 43300092 single base substitution G C intron_variant ESAD-UK 7 43300172 43300172 single base substitution A C downstream_gene_variant ESAD-UK 7 43300172 43300172 single base substitution A C intron_variant ESAD-UK 7 43300479 43300479 single base substitution A C downstream_gene_variant ESAD-UK 7 43300479 43300479 single base substitution A C intron_variant ESAD-UK 7 43300607 43300607 single base substitution G C downstream_gene_variant ESAD-UK 7 43300607 43300607 single base substitution G C intron_variant ESAD-UK 7 43301231 43301231 single base substitution G A downstream_gene_variant ESAD-UK 7 43301231 43301231 single base substitution G A intron_variant ESAD-UK 7 43301323 43301323 single base substitution A C downstream_gene_variant ESAD-UK 7 43301323 43301323 single base substitution A C intron_variant ESAD-UK 7 43301384 43301384 single base substitution G A downstream_gene_variant ESAD-UK 7 43301384 43301384 single base substitution G A intron_variant ESAD-UK 7 43302092 43302092 single base substitution A G downstream_gene_variant ESAD-UK 7 43302092 43302092 single base substitution A G intron_variant ESAD-UK 7 43302177 43302177 single base substitution T G downstream_gene_variant ESAD-UK 7 43302177 43302177 single base substitution T G intron_variant ESAD-UK 7 43303157 43303157 single base substitution A G downstream_gene_variant ESAD-UK 7 43303157 43303157 single base substitution A G intron_variant ESAD-UK 7 43303313 43303313 single base substitution G C downstream_gene_variant ESAD-UK 7 43303313 43303313 single base substitution G C intron_variant ESAD-UK 7 43303695 43303695 single base substitution G A intron_variant ESAD-UK 7 43303735 43303735 single base substitution C T intron_variant ESAD-UK 7 43303775 43303775 single base substitution A G intron_variant ESAD-UK 7 43303788 43303788 single base substitution T G intron_variant ESAD-UK 7 43304253 43304253 single base substitution G T intron_variant ESAD-UK 7 43305014 43305014 single base substitution G T intron_variant ESAD-UK 7 43305015 43305015 single base substitution A T intron_variant ESAD-UK 7 43305028 43305028 single base substitution T G intron_variant ESAD-UK 7 43305074 43305074 single base substitution A C intron_variant ESAD-UK 7 43305580 43305580 single base substitution C A intron_variant ESAD-UK 7 43305749 43305749 single base substitution C T intron_variant ESAD-UK 7 43306893 43306893 single base substitution C T intron_variant ESAD-UK 7 43307346 43307346 single base substitution A C intron_variant ESAD-UK 7 43307507 43307507 single base substitution G T intron_variant ESAD-UK 7 43308989 43308989 single base substitution T C intron_variant ESAD-UK 7 43309860 43309860 single base substitution T A intron_variant ESAD-UK 7 43310517 43310517 single base substitution T C intron_variant ESAD-UK 7 43311145 43311145 single base substitution C T intron_variant ESAD-UK 7 43311165 43311165 single base substitution C A intron_variant ESAD-UK 7 43311345 43311345 single base substitution A C intron_variant ESAD-UK 7 43311630 43311630 single base substitution G T intron_variant ESAD-UK 7 43312289 43312289 single base substitution G T intron_variant ESAD-UK 7 43313039 43313039 single base substitution T C intron_variant ESAD-UK 7 43314325 43314325 single base substitution T G intron_variant ESAD-UK 7 43315163 43315163 single base substitution A C intron_variant ESAD-UK 7 43315200 43315200 single base substitution C A intron_variant ESAD-UK 7 43315445 43315445 single base substitution C T intron_variant ESAD-UK 7 43315567 43315567 single base substitution G A intron_variant ESAD-UK 7 43315893 43315893 single base substitution A G intron_variant ESAD-UK 7 43316508 43316508 single base substitution A G intron_variant ESAD-UK 7 43317316 43317316 single base substitution T G intron_variant ESAD-UK 7 43317506 43317506 single base substitution C G intron_variant ESAD-UK 7 43317973 43317973 single base substitution G A intron_variant ESAD-UK 7 43318110 43318110 single base substitution T C intron_variant ESAD-UK 7 43318169 43318169 single base substitution A G intron_variant ESAD-UK 7 43318399 43318399 single base substitution C T intron_variant ESAD-UK 7 43318538 43318538 single base substitution T A intron_variant ESAD-UK 7 43318590 43318590 single base substitution C A intron_variant ESAD-UK 7 43318608 43318608 single base substitution G T intron_variant ESAD-UK 7 43319619 43319619 single base substitution A C intron_variant ESAD-UK 7 43319940 43319940 single base substitution G A intron_variant ESAD-UK 7 43320496 43320496 single base substitution C A intron_variant ESAD-UK 7 43321355 43321355 single base substitution A C intron_variant ESAD-UK 7 43321929 43321929 single base substitution G A intron_variant ESAD-UK 7 43322355 43322355 single base substitution T C intron_variant ESAD-UK 7 43322484 43322484 single base substitution A G intron_variant ESAD-UK 7 43323602 43323602 single base substitution A G intron_variant ESAD-UK 7 43323702 43323702 single base substitution G A intron_variant ESAD-UK 7 43324000 43324000 single base substitution T G intron_variant ESAD-UK 7 43324388 43324388 single base substitution T A intron_variant ESAD-UK 7 43324721 43324721 single base substitution A C intron_variant ESAD-UK 7 43324770 43324770 single base substitution A C intron_variant ESAD-UK 7 43324999 43324999 single base substitution G C intron_variant ESAD-UK 7 43325805 43325805 single base substitution G T intron_variant ESAD-UK 7 43325958 43325958 single base substitution T G intron_variant ESAD-UK 7 43326329 43326329 single base substitution A C intron_variant ESAD-UK 7 43326676 43326676 single base substitution A C intron_variant ESAD-UK 7 43327615 43327615 single base substitution A G intron_variant ESAD-UK 7 43327906 43327906 single base substitution A C intron_variant ESAD-UK 7 43327914 43327914 single base substitution G T intron_variant ESAD-UK 7 43328015 43328015 single base substitution A C intron_variant ESAD-UK 7 43328196 43328196 single base substitution C G intron_variant ESAD-UK 7 43328831 43328831 single base substitution G A intron_variant ESAD-UK 7 43328932 43328932 single base substitution C T intron_variant ESAD-UK 7 43329118 43329118 single base substitution T G intron_variant ESAD-UK 7 43329180 43329180 single base substitution A C intron_variant ESAD-UK 7 43329336 43329336 single base substitution A T intron_variant ESAD-UK 7 43329590 43329590 single base substitution G A intron_variant ESAD-UK 7 43329738 43329738 single base substitution A C intron_variant ESAD-UK 7 43330113 43330113 single base substitution T C intron_variant ESAD-UK 7 43330159 43330159 single base substitution G T intron_variant ESAD-UK 7 43330542 43330542 single base substitution A C intron_variant ESAD-UK 7 43330966 43330966 single base substitution T A intron_variant ESAD-UK 7 43331301 43331301 single base substitution T G intron_variant ESAD-UK 7 43331514 43331514 single base substitution A C intron_variant ESAD-UK 7 43331836 43331836 single base substitution A C intron_variant ESAD-UK 7 43332093 43332093 single base substitution T G intron_variant ESAD-UK 7 43332442 43332442 single base substitution A C intron_variant ESAD-UK 7 43332445 43332445 single base substitution T C intron_variant ESAD-UK 7 43333462 43333462 single base substitution G A intron_variant ESAD-UK 7 43334035 43334035 single base substitution A T intron_variant ESAD-UK 7 43334886 43334886 single base substitution C T intron_variant ESAD-UK 7 43335766 43335766 single base substitution G A intron_variant ESAD-UK 7 43335817 43335817 single base substitution A C intron_variant ESAD-UK 7 43336293 43336293 single base substitution G T intron_variant ESAD-UK 7 43336300 43336300 single base substitution A C intron_variant ESAD-UK 7 43336351 43336351 single base substitution T G intron_variant ESAD-UK 7 43337100 43337100 single base substitution A G intron_variant ESAD-UK 7 43338310 43338310 single base substitution T G intron_variant ESAD-UK 7 43338606 43338606 single base substitution T G intron_variant ESAD-UK 7 43339090 43339090 single base substitution G A intron_variant ESAD-UK 7 43339559 43339559 single base substitution A G intron_variant ESAD-UK 7 43340858 43340858 single base substitution C T intron_variant ESAD-UK 7 43341356 43341356 single base substitution C T intron_variant ESAD-UK 7 43341509 43341509 single base substitution A G intron_variant ESAD-UK 7 43341814 43341814 single base substitution C G intron_variant ESAD-UK 7 43342056 43342056 single base substitution T G intron_variant ESAD-UK 7 43342752 43342752 single base substitution G A intron_variant ESAD-UK 7 43342906 43342906 single base substitution G A intron_variant ESAD-UK 7 43343469 43343469 single base substitution A G intron_variant ESAD-UK 7 43343683 43343683 single base substitution C A intron_variant ESAD-UK 7 43343908 43343908 single base substitution T A intron_variant ESAD-UK 7 43344252 43344252 single base substitution G A intron_variant ESAD-UK 7 43344292 43344292 single base substitution C A intron_variant ESAD-UK 7 43345629 43345629 single base substitution C A intron_variant ESAD-UK 7 43345868 43345868 single base substitution T C intron_variant ESAD-UK 7 43345984 43345984 single base substitution T G intron_variant ESAD-UK 7 43346019 43346019 single base substitution A C intron_variant ESAD-UK 7 43346524 43346524 single base substitution C A intron_variant ESAD-UK 7 43346642 43346642 single base substitution C A intron_variant ESAD-UK 7 43346665 43346665 single base substitution A G intron_variant ESAD-UK 7 43347150 43347150 single base substitution C T intron_variant ESAD-UK 7 43348378 43348378 single base substitution G A intron_variant ESAD-UK 7 43348770 43348770 single base substitution C A intron_variant ESAD-UK 7 43349053 43349053 single base substitution G A intron_variant ESAD-UK 7 43349432 43349432 single base substitution G T intron_variant ESAD-UK 7 43349691 43349691 single base substitution T G intron_variant ESAD-UK 7 43350258 43350258 single base substitution T G intron_variant ESAD-UK 7 43350430 43350430 single base substitution C G intron_variant ESAD-UK 7 43350459 43350459 single base substitution A G intron_variant ESAD-UK 7 43350484 43350484 single base substitution C A intron_variant ESAD-UK 7 43350632 43350632 single base substitution T G intron_variant ESAD-UK 7 43350764 43350764 single base substitution C A intron_variant ESAD-UK 7 43351296 43351296 single base substitution G A intron_variant ESAD-UK 7 43351453 43351453 single base substitution G A exon_variant ESAD-UK 7 43351453 43351453 single base substitution G A missense_variant R40Q 119G>A ESAD-UK 7 43352134 43352134 single base substitution A C downstream_gene_variant ESAD-UK 7 43352134 43352134 single base substitution A C intron_variant ESAD-UK 7 43352607 43352607 single base substitution G A downstream_gene_variant ESAD-UK 7 43352607 43352607 single base substitution G A intron_variant ESAD-UK 7 43353357 43353357 single base substitution G A downstream_gene_variant ESAD-UK 7 43353357 43353357 single base substitution G A intron_variant ESAD-UK 7 43353546 43353546 single base substitution G C downstream_gene_variant ESAD-UK 7 43353546 43353546 single base substitution G C intron_variant ESAD-UK 7 43353955 43353955 single base substitution C T downstream_gene_variant ESAD-UK 7 43353955 43353955 single base substitution C T intron_variant ESAD-UK 7 43354157 43354157 single base substitution G A downstream_gene_variant ESAD-UK 7 43354157 43354157 single base substitution G A intron_variant ESAD-UK 7 43355178 43355178 single base substitution C T downstream_gene_variant ESAD-UK 7 43355178 43355178 single base substitution C T intron_variant ESAD-UK 7 43355179 43355179 single base substitution G A downstream_gene_variant ESAD-UK 7 43355179 43355179 single base substitution G A intron_variant ESAD-UK 7 43356634 43356634 single base substitution A G intron_variant ESAD-UK 7 43356682 43356682 single base substitution T G intron_variant ESAD-UK 7 43356863 43356863 single base substitution G A intron_variant ESAD-UK 7 43357077 43357077 single base substitution T G intron_variant ESAD-UK 7 43357966 43357966 single base substitution A C intron_variant ESAD-UK 7 43358014 43358014 single base substitution G A intron_variant ESAD-UK 7 43358476 43358476 single base substitution T C intron_variant ESAD-UK 7 43358725 43358725 single base substitution G A intron_variant ESAD-UK 7 43360172 43360172 single base substitution C T intron_variant ESAD-UK 7 43360534 43360534 single base substitution G T intron_variant ESAD-UK 7 43360631 43360631 single base substitution A C intron_variant ESAD-UK 7 43361918 43361918 single base substitution C A intron_variant ESAD-UK 7 43362236 43362236 single base substitution C T intron_variant ESAD-UK 7 43362336 43362336 single base substitution T G intron_variant ESAD-UK 7 43362383 43362383 single base substitution A C intron_variant ESAD-UK 7 43363068 43363068 single base substitution G A intron_variant ESAD-UK 7 43363068 43363068 single base substitution G T intron_variant ESAD-UK 7 43363603 43363603 single base substitution A C intron_variant ESAD-UK 7 43364939 43364939 single base substitution C T intron_variant ESAD-UK 7 43365091 43365091 single base substitution A G intron_variant ESAD-UK 7 43366182 43366182 single base substitution G T intron_variant ESAD-UK 7 43366424 43366424 single base substitution C T intron_variant ESAD-UK 7 43366701 43366701 single base substitution A T intron_variant ESAD-UK 7 43367735 43367735 single base substitution A T intron_variant ESAD-UK 7 43367922 43367922 deletion of <=200bp A - intron_variant ESAD-UK 7 43370241 43370241 single base substitution A G intron_variant ESAD-UK 7 43370866 43370866 single base substitution A C intron_variant ESAD-UK 7 43370985 43370985 single base substitution C A intron_variant ESAD-UK 7 43373266 43373266 single base substitution T G intron_variant ESAD-UK 7 43374058 43374058 single base substitution A C intron_variant ESAD-UK 7 43374550 43374550 single base substitution A T intron_variant ESAD-UK 7 43375194 43375194 single base substitution A T intron_variant ESAD-UK 7 43375865 43375865 single base substitution A T intron_variant ESAD-UK 7 43375943 43375943 deletion of <=200bp T - intron_variant ESAD-UK 7 43375943 43375943 single base substitution T A intron_variant ESAD-UK 7 43376262 43376262 single base substitution T G intron_variant ESAD-UK 7 43376433 43376433 single base substitution A C intron_variant ESAD-UK 7 43376951 43376951 single base substitution G T intron_variant ESAD-UK 7 43377206 43377206 single base substitution T G intron_variant ESAD-UK 7 43377336 43377336 single base substitution A G intron_variant ESAD-UK 7 43377381 43377381 single base substitution C T intron_variant ESAD-UK 7 43378186 43378186 single base substitution T G intron_variant ESAD-UK 7 43378269 43378269 single base substitution T G intron_variant ESAD-UK 7 43379265 43379265 single base substitution A G intron_variant ESAD-UK 7 43379746 43379746 single base substitution T G intron_variant ESAD-UK 7 43379965 43379965 single base substitution G A intron_variant ESAD-UK 7 43380406 43380406 single base substitution G A intron_variant ESAD-UK 7 43381081 43381081 single base substitution A C intron_variant ESAD-UK 7 43381561 43381561 single base substitution T G intron_variant ESAD-UK 7 43382363 43382363 single base substitution G A intron_variant ESAD-UK 7 43382641 43382641 single base substitution G T intron_variant ESAD-UK 7 43382831 43382831 single base substitution G T intron_variant ESAD-UK 7 43383833 43383833 single base substitution T G intron_variant ESAD-UK 7 43385052 43385052 single base substitution A C intron_variant ESAD-UK 7 43385081 43385081 single base substitution A T intron_variant ESAD-UK 7 43385950 43385950 single base substitution T C intron_variant ESAD-UK 7 43385954 43385954 single base substitution C A intron_variant ESAD-UK 7 43386366 43386366 single base substitution G A intron_variant ESAD-UK 7 43386386 43386386 single base substitution A C intron_variant ESAD-UK 7 43386386 43386386 single base substitution A G intron_variant ESAD-UK 7 43387207 43387207 single base substitution C T intron_variant ESAD-UK 7 43387244 43387244 single base substitution T C intron_variant ESAD-UK 7 43387879 43387879 single base substitution A C intron_variant ESAD-UK 7 43389014 43389014 single base substitution T G intron_variant ESAD-UK 7 43389056 43389056 single base substitution G T intron_variant ESAD-UK 7 43389285 43389285 single base substitution T G intron_variant ESAD-UK 7 43390130 43390130 single base substitution A G intron_variant ESAD-UK 7 43390153 43390153 single base substitution T C intron_variant ESAD-UK 7 43390491 43390491 single base substitution G A intron_variant ESAD-UK 7 43390682 43390682 single base substitution T C intron_variant ESAD-UK 7 43390690 43390690 single base substitution C T intron_variant ESAD-UK 7 43390891 43390891 single base substitution A G intron_variant ESAD-UK 7 43391477 43391477 single base substitution G C intron_variant ESAD-UK 7 43391602 43391602 single base substitution A C intron_variant ESAD-UK 7 43392110 43392110 single base substitution T C intron_variant ESAD-UK 7 43392110 43392110 single base substitution T G intron_variant ESAD-UK 7 43392316 43392316 single base substitution T G intron_variant ESAD-UK 7 43392691 43392691 single base substitution G C intron_variant ESAD-UK 7 43393067 43393067 single base substitution T G intron_variant ESAD-UK 7 43393078 43393078 single base substitution G T intron_variant ESAD-UK 7 43393106 43393106 single base substitution A G intron_variant ESAD-UK 7 43393271 43393271 single base substitution T G intron_variant ESAD-UK 7 43393540 43393540 single base substitution A C intron_variant ESAD-UK 7 43393657 43393657 single base substitution A C intron_variant ESAD-UK 7 43393789 43393789 single base substitution A T intron_variant ESAD-UK 7 43394079 43394079 single base substitution A G intron_variant ESAD-UK 7 43394336 43394336 single base substitution T G intron_variant ESAD-UK 7 43394356 43394356 single base substitution A G intron_variant ESAD-UK 7 43395538 43395538 single base substitution A C intron_variant ESAD-UK 7 43395577 43395577 single base substitution A T intron_variant ESAD-UK 7 43395669 43395674 deletion of <=200bp AAATAT - intron_variant ESAD-UK 7 43396122 43396122 single base substitution A T intron_variant ESAD-UK 7 43398183 43398183 insertion of <=200bp - A intron_variant ESAD-UK 7 43398737 43398737 single base substitution C T intron_variant ESAD-UK 7 43398761 43398761 single base substitution C A intron_variant ESAD-UK 7 43399124 43399124 single base substitution A C intron_variant ESAD-UK 7 43400318 43400318 single base substitution A C intron_variant ESAD-UK 7 43401811 43401811 insertion of <=200bp - A intron_variant ESAD-UK 7 43401890 43401890 single base substitution G T intron_variant ESAD-UK 7 43402510 43402510 single base substitution G A intron_variant ESAD-UK 7 43403041 43403041 single base substitution G A intron_variant ESAD-UK 7 43403499 43403499 single base substitution A C intron_variant ESAD-UK 7 43403525 43403525 single base substitution C T intron_variant ESAD-UK 7 43404733 43404733 single base substitution C A intron_variant ESAD-UK 7 43404818 43404818 single base substitution T G intron_variant ESAD-UK 7 43404827 43404827 single base substitution T A intron_variant ESAD-UK 7 43404979 43404979 single base substitution G A intron_variant ESAD-UK 7 43405048 43405048 single base substitution G T intron_variant ESAD-UK 7 43405720 43405720 single base substitution A G intron_variant ESAD-UK 7 43405818 43405818 single base substitution A G intron_variant ESAD-UK 7 43405820 43405820 single base substitution A C intron_variant ESAD-UK 7 43406034 43406034 single base substitution T A intron_variant ESAD-UK 7 43406762 43406762 single base substitution T G intron_variant ESAD-UK 7 43406907 43406907 single base substitution T G intron_variant ESAD-UK 7 43408723 43408723 single base substitution C A intron_variant ESAD-UK 7 43408911 43408911 single base substitution G T intron_variant ESAD-UK 7 43408997 43408997 single base substitution C T intron_variant ESAD-UK 7 43409749 43409749 single base substitution A T intron_variant ESAD-UK 7 43410124 43410124 single base substitution T G intron_variant ESAD-UK 7 43411078 43411078 deletion of <=200bp T - intron_variant ESAD-UK 7 43411430 43411430 single base substitution T G intron_variant ESAD-UK 7 43411585 43411585 single base substitution A C intron_variant ESAD-UK 7 43414896 43414896 single base substitution A G intron_variant ESAD-UK 7 43414896 43414896 single base substitution A G upstream_gene_variant ESAD-UK 7 43415019 43415019 single base substitution C T intron_variant ESAD-UK 7 43415019 43415019 single base substitution C T upstream_gene_variant ESAD-UK 7 43415606 43415606 insertion of <=200bp - AT intron_variant ESAD-UK 7 43415606 43415606 insertion of <=200bp - AT upstream_gene_variant ESAD-UK 7 43415943 43415943 single base substitution T C intron_variant ESAD-UK 7 43415943 43415943 single base substitution T C upstream_gene_variant ESAD-UK 7 43416697 43416697 single base substitution T A intron_variant ESAD-UK 7 43416697 43416697 single base substitution T A upstream_gene_variant ESAD-UK 7 43417095 43417095 single base substitution G A intron_variant ESAD-UK 7 43417095 43417095 single base substitution G A upstream_gene_variant ESAD-UK 7 43417407 43417407 single base substitution A G exon_variant ESAD-UK 7 43417407 43417407 single base substitution A G intron_variant ESAD-UK 7 43417594 43417594 single base substitution A G intron_variant ESAD-UK 7 43417730 43417730 insertion of <=200bp - A intron_variant ESAD-UK 7 43418064 43418064 single base substitution T A intron_variant ESAD-UK 7 43418427 43418427 single base substitution A G intron_variant ESAD-UK 7 43419092 43419092 single base substitution T C intron_variant ESAD-UK 7 43419145 43419145 single base substitution T C intron_variant ESAD-UK 7 43419233 43419233 single base substitution A C intron_variant ESAD-UK 7 43419764 43419764 single base substitution G T intron_variant ESAD-UK 7 43419900 43419900 single base substitution C T intron_variant ESAD-UK 7 43419905 43419905 single base substitution C A intron_variant ESAD-UK 7 43420111 43420111 deletion of <=200bp T - intron_variant ESAD-UK 7 43420133 43420133 deletion of <=200bp T - intron_variant ESAD-UK 7 43420873 43420873 single base substitution C A intron_variant ESAD-UK 7 43421011 43421011 single base substitution C T intron_variant ESAD-UK 7 43421194 43421194 single base substitution G T intron_variant ESAD-UK 7 43421485 43421485 single base substitution A T intron_variant ESAD-UK 7 43421764 43421764 single base substitution A G intron_variant ESAD-UK 7 43421782 43421782 single base substitution G A intron_variant ESAD-UK 7 43421950 43421950 single base substitution G A intron_variant ESAD-UK 7 43422609 43422609 single base substitution T G intron_variant ESAD-UK 7 43423164 43423164 single base substitution G T intron_variant ESAD-UK 7 43423383 43423383 single base substitution A T intron_variant ESAD-UK 7 43423385 43423385 single base substitution T G intron_variant ESAD-UK 7 43423539 43423539 single base substitution G A intron_variant ESAD-UK 7 43424139 43424139 single base substitution G A intron_variant ESAD-UK 7 43424233 43424233 single base substitution A C intron_variant ESAD-UK 7 43424296 43424296 single base substitution A G intron_variant ESAD-UK 7 43424498 43424498 single base substitution G A intron_variant ESAD-UK 7 43425319 43425319 single base substitution T A intron_variant ESAD-UK 7 43425550 43425550 single base substitution A C intron_variant ESAD-UK 7 43426387 43426387 single base substitution A C intron_variant ESAD-UK 7 43427110 43427110 single base substitution T G intron_variant ESAD-UK 7 43427176 43427176 single base substitution A G intron_variant ESAD-UK 7 43428237 43428237 single base substitution T G intron_variant ESAD-UK 7 43428713 43428713 single base substitution C T intron_variant ESAD-UK 7 43429982 43429982 single base substitution T A intron_variant ESAD-UK 7 43430230 43430230 single base substitution A C intron_variant ESAD-UK 7 43430526 43430526 single base substitution G C intron_variant ESAD-UK 7 43430560 43430560 single base substitution A C intron_variant ESAD-UK 7 43430632 43430632 single base substitution G T intron_variant ESAD-UK 7 43431299 43431299 single base substitution A C intron_variant ESAD-UK 7 43431299 43431299 single base substitution A C upstream_gene_variant ESAD-UK 7 43431535 43431535 single base substitution A T intron_variant ESAD-UK 7 43431535 43431535 single base substitution A T upstream_gene_variant ESAD-UK 7 43432038 43432038 single base substitution A C intron_variant ESAD-UK 7 43432038 43432038 single base substitution A C upstream_gene_variant ESAD-UK 7 43432038 43432038 single base substitution A G intron_variant ESAD-UK 7 43432038 43432038 single base substitution A G upstream_gene_variant ESAD-UK 7 43432114 43432114 single base substitution T G intron_variant ESAD-UK 7 43432114 43432114 single base substitution T G upstream_gene_variant ESAD-UK 7 43432141 43432141 single base substitution A C intron_variant ESAD-UK 7 43432141 43432141 single base substitution A C upstream_gene_variant ESAD-UK 7 43432144 43432144 single base substitution T G intron_variant ESAD-UK 7 43432144 43432144 single base substitution T G upstream_gene_variant ESAD-UK 7 43432559 43432559 single base substitution A C intron_variant ESAD-UK 7 43432559 43432559 single base substitution A C upstream_gene_variant ESAD-UK 7 43432599 43432599 single base substitution C A intron_variant ESAD-UK 7 43432599 43432599 single base substitution C A upstream_gene_variant ESAD-UK 7 43433045 43433045 single base substitution A G intron_variant ESAD-UK 7 43433045 43433045 single base substitution A G upstream_gene_variant ESAD-UK 7 43434419 43434419 single base substitution G A intron_variant ESAD-UK 7 43434419 43434419 single base substitution G A upstream_gene_variant ESAD-UK 7 43434665 43434665 single base substitution G A intron_variant ESAD-UK 7 43434665 43434665 single base substitution G A upstream_gene_variant ESAD-UK 7 43435003 43435003 single base substitution A C intron_variant ESAD-UK 7 43435003 43435003 single base substitution A C upstream_gene_variant ESAD-UK 7 43435687 43435687 single base substitution T A intron_variant ESAD-UK 7 43435687 43435687 single base substitution T A upstream_gene_variant ESAD-UK 7 43436344 43436344 single base substitution T C intron_variant ESAD-UK 7 43436721 43436721 single base substitution G T intron_variant ESAD-UK 7 43437154 43437154 single base substitution G A intron_variant ESAD-UK 7 43437488 43437488 single base substitution A G intron_variant ESAD-UK 7 43437517 43437517 single base substitution G T intron_variant ESAD-UK 7 43438109 43438109 single base substitution T G intron_variant ESAD-UK 7 43438291 43438291 single base substitution C G intron_variant ESAD-UK 7 43438849 43438849 single base substitution G A intron_variant ESAD-UK 7 43439677 43439677 single base substitution T C intron_variant ESAD-UK 7 43440957 43440957 insertion of <=200bp - A intron_variant ESAD-UK 7 43441316 43441316 single base substitution C T intron_variant ESAD-UK 7 43441427 43441427 single base substitution G A intron_variant ESAD-UK 7 43441604 43441604 single base substitution G T intron_variant ESAD-UK 7 43442141 43442141 single base substitution C T intron_variant ESAD-UK 7 43442295 43442295 single base substitution A G intron_variant ESAD-UK 7 43442634 43442634 single base substitution A G intron_variant ESAD-UK 7 43443081 43443081 single base substitution C T intron_variant ESAD-UK 7 43443337 43443337 single base substitution C A intron_variant ESAD-UK 7 43443506 43443506 single base substitution T G intron_variant ESAD-UK 7 43443895 43443895 single base substitution G T intron_variant ESAD-UK 7 43444088 43444088 insertion of <=200bp - A intron_variant ESAD-UK 7 43445299 43445299 single base substitution A T intron_variant ESAD-UK 7 43445739 43445739 single base substitution A G intron_variant ESAD-UK 7 43447141 43447141 single base substitution A C intron_variant ESAD-UK 7 43447975 43447975 single base substitution A G downstream_gene_variant ESAD-UK 7 43447975 43447975 single base substitution A G intron_variant ESAD-UK 7 43448075 43448075 single base substitution A G downstream_gene_variant ESAD-UK 7 43448075 43448075 single base substitution A G intron_variant ESAD-UK 7 43448604 43448604 single base substitution T G downstream_gene_variant ESAD-UK 7 43448604 43448604 single base substitution T G intron_variant ESAD-UK 7 43449073 43449073 single base substitution G C downstream_gene_variant ESAD-UK 7 43449073 43449073 single base substitution G C intron_variant ESAD-UK 7 43449521 43449521 single base substitution T G downstream_gene_variant ESAD-UK 7 43449521 43449521 single base substitution T G intron_variant ESAD-UK 7 43449604 43449604 single base substitution G A downstream_gene_variant ESAD-UK 7 43449604 43449604 single base substitution G A intron_variant ESAD-UK 7 43449945 43449945 single base substitution G A downstream_gene_variant ESAD-UK 7 43449945 43449945 single base substitution G A intron_variant ESAD-UK 7 43450092 43450092 single base substitution G C downstream_gene_variant ESAD-UK 7 43450092 43450092 single base substitution G C intron_variant ESAD-UK 7 43450520 43450520 single base substitution T C downstream_gene_variant ESAD-UK 7 43450520 43450520 single base substitution T C intron_variant ESAD-UK 7 43451132 43451132 single base substitution T C downstream_gene_variant ESAD-UK 7 43451132 43451132 single base substitution T C intron_variant ESAD-UK 7 43451813 43451813 single base substitution A C downstream_gene_variant ESAD-UK 7 43451813 43451813 single base substitution A C intron_variant ESAD-UK 7 43456686 43456686 single base substitution G A intron_variant ESAD-UK 7 43456776 43456776 single base substitution A C intron_variant ESAD-UK 7 43457427 43457427 single base substitution T G intron_variant ESAD-UK 7 43457437 43457437 single base substitution C T intron_variant ESAD-UK 7 43457767 43457767 single base substitution C A intron_variant ESAD-UK 7 43457848 43457848 single base substitution A C intron_variant ESAD-UK 7 43457976 43457976 single base substitution T G intron_variant ESAD-UK 7 43457996 43457996 single base substitution A G intron_variant ESAD-UK 7 43458277 43458277 single base substitution T C intron_variant ESAD-UK 7 43458385 43458385 single base substitution A C intron_variant ESAD-UK 7 43458433 43458433 single base substitution T G intron_variant ESAD-UK 7 43459132 43459132 single base substitution A C intron_variant ESAD-UK 7 43459132 43459132 single base substitution A T intron_variant ESAD-UK 7 43459406 43459406 single base substitution G T intron_variant ESAD-UK 7 43460249 43460249 single base substitution A C intron_variant ESAD-UK 7 43460260 43460260 single base substitution T A intron_variant ESAD-UK 7 43460666 43460666 single base substitution T G intron_variant ESAD-UK 7 43461919 43461919 single base substitution A C intron_variant ESAD-UK 7 43463811 43463811 single base substitution G T intron_variant ESAD-UK 7 43464666 43464666 single base substitution C T intron_variant ESAD-UK 7 43464908 43464908 insertion of <=200bp - GATAGATG intron_variant ESAD-UK 7 43466253 43466253 deletion of <=200bp T - intron_variant ESAD-UK 7 43467165 43467165 single base substitution C A intron_variant ESAD-UK 7 43467239 43467239 single base substitution G T intron_variant ESAD-UK 7 43468041 43468041 single base substitution G A intron_variant ESAD-UK 7 43468419 43468419 single base substitution C A intron_variant ESAD-UK 7 43468505 43468505 single base substitution A G intron_variant ESAD-UK 7 43469495 43469495 single base substitution C G intron_variant ESAD-UK 7 43470306 43470306 single base substitution A C intron_variant ESAD-UK 7 43471619 43471619 single base substitution G T intron_variant ESAD-UK 7 43472456 43472456 single base substitution C T intron_variant ESAD-UK 7 43473016 43473016 single base substitution A G intron_variant ESAD-UK 7 43473161 43473161 single base substitution C T intron_variant ESAD-UK 7 43473634 43473634 insertion of <=200bp - T intron_variant ESAD-UK 7 43473641 43473641 single base substitution T A intron_variant ESAD-UK 7 43474035 43474035 single base substitution C A intron_variant ESAD-UK 7 43474053 43474053 single base substitution G A intron_variant ESAD-UK 7 43474287 43474287 single base substitution A C intron_variant ESAD-UK 7 43474774 43474774 single base substitution A C intron_variant ESAD-UK 7 43474887 43474887 single base substitution A C intron_variant ESAD-UK 7 43475538 43475538 single base substitution C T intron_variant ESAD-UK 7 43475713 43475713 single base substitution A C intron_variant ESAD-UK 7 43475819 43475819 single base substitution A C intron_variant ESAD-UK 7 43476614 43476614 single base substitution G A intron_variant ESAD-UK 7 43477017 43477017 single base substitution G T intron_variant ESAD-UK 7 43477924 43477924 single base substitution C A exon_variant ESAD-UK 7 43477924 43477924 single base substitution C A intron_variant ESAD-UK 7 43479354 43479354 single base substitution T C downstream_gene_variant ESAD-UK 7 43479354 43479354 single base substitution T C exon_variant ESAD-UK 7 43479354 43479354 single base substitution T C intron_variant ESAD-UK 7 43479577 43479577 single base substitution T C downstream_gene_variant ESAD-UK 7 43479577 43479577 single base substitution T C exon_variant ESAD-UK 7 43479577 43479577 single base substitution T C intron_variant ESAD-UK 7 43480120 43480120 single base substitution A G downstream_gene_variant ESAD-UK 7 43480120 43480120 single base substitution A G exon_variant ESAD-UK 7 43480120 43480120 single base substitution A G intron_variant ESAD-UK 7 43480651 43480651 single base substitution T G downstream_gene_variant ESAD-UK 7 43480651 43480651 single base substitution T G intron_variant ESAD-UK 7 43481450 43481450 deletion of <=200bp A - downstream_gene_variant ESAD-UK 7 43481450 43481450 deletion of <=200bp A - intron_variant ESAD-UK 7 43482587 43482587 single base substitution C A downstream_gene_variant ESAD-UK 7 43482587 43482587 single base substitution C A intron_variant ESAD-UK 7 43482844 43482844 single base substitution T G downstream_gene_variant ESAD-UK 7 43482844 43482844 single base substitution T G intron_variant ESAD-UK 7 43483077 43483077 single base substitution C A downstream_gene_variant ESAD-UK 7 43483077 43483077 single base substitution C A intron_variant ESAD-UK 7 43483782 43483782 single base substitution T A downstream_gene_variant ESAD-UK 7 43483782 43483782 single base substitution T A intron_variant ESAD-UK 7 43483982 43483982 single base substitution G A downstream_gene_variant ESAD-UK 7 43483982 43483982 single base substitution G A missense_variant G404D 1211G>A ESAD-UK 7 43484037 43484037 single base substitution C G downstream_gene_variant ESAD-UK 7 43484037 43484037 single base substitution C G missense_variant I422M 1266C>G ESAD-UK 7 43484504 43484504 single base substitution C T downstream_gene_variant ESAD-UK 7 43484504 43484504 single base substitution C T missense_variant A578V 1733C>T ESAD-UK 7 43484813 43484813 single base substitution C T downstream_gene_variant ESAD-UK 7 43484813 43484813 single base substitution C T missense_variant S681L 2042C>T ESAD-UK 7 43484829 43484829 single base substitution G A downstream_gene_variant ESAD-UK 7 43484829 43484829 single base substitution G A synonymous_variant S686S 2058G>A ESAD-UK 7 43484956 43484956 single base substitution G A downstream_gene_variant ESAD-UK 7 43484956 43484956 single base substitution G A missense_variant E729K 2185G>A ESAD-UK 7 43484996 43484996 single base substitution A G downstream_gene_variant ESAD-UK 7 43484996 43484996 single base substitution A G missense_variant E742G 2225A>G ESAD-UK 7 43485841 43485841 single base substitution A C intron_variant ESAD-UK 7 43486141 43486141 single base substitution G C intron_variant ESAD-UK 7 43486202 43486202 single base substitution A G intron_variant ESAD-UK 7 43486225 43486225 insertion of <=200bp - G intron_variant ESAD-UK 7 43486669 43486669 single base substitution G A intron_variant ESAD-UK 7 43486694 43486694 single base substitution G C intron_variant ESAD-UK 7 43486799 43486799 single base substitution A G intron_variant ESAD-UK 7 43487264 43487264 single base substitution C A intron_variant ESAD-UK 7 43487567 43487567 single base substitution A G intron_variant ESAD-UK 7 43490673 43490673 single base substitution A C intron_variant ESAD-UK 7 43490866 43490866 single base substitution A C intron_variant ESAD-UK 7 43491247 43491247 single base substitution G T intron_variant ESAD-UK 7 43491446 43491446 single base substitution T G intron_variant ESAD-UK 7 43491691 43491691 single base substitution C T intron_variant ESAD-UK 7 43491830 43491830 single base substitution G T intron_variant ESAD-UK 7 43491905 43491905 single base substitution A T intron_variant ESAD-UK 7 43492339 43492339 single base substitution G A intron_variant ESAD-UK 7 43493695 43493695 single base substitution A G intron_variant ESAD-UK 7 43494437 43494437 single base substitution T C intron_variant ESAD-UK 7 43495555 43495555 single base substitution G A intron_variant ESAD-UK 7 43495871 43495871 single base substitution T C intron_variant ESAD-UK 7 43496229 43496229 single base substitution G A intron_variant ESAD-UK 7 43497014 43497014 single base substitution A G intron_variant ESAD-UK 7 43497222 43497222 single base substitution A C intron_variant ESAD-UK 7 43497748 43497748 single base substitution A T intron_variant ESAD-UK 7 43497858 43497858 single base substitution T A intron_variant ESAD-UK 7 43498022 43498022 single base substitution A T intron_variant ESAD-UK 7 43498243 43498243 single base substitution A C intron_variant ESAD-UK 7 43501501 43501501 single base substitution T C intron_variant ESAD-UK 7 43501787 43501787 single base substitution C T intron_variant ESAD-UK 7 43502116 43502116 single base substitution A C intron_variant ESAD-UK 7 43503004 43503004 single base substitution G C intron_variant ESAD-UK 7 43504777 43504777 single base substitution G C intron_variant ESAD-UK 7 43505235 43505235 single base substitution C T intron_variant ESAD-UK 7 43505838 43505838 single base substitution G A intron_variant ESAD-UK 7 43506115 43506115 single base substitution C T missense_variant A920V 2759C>T ESAD-UK 7 43506115 43506115 single base substitution C T missense_variant A954V 2861C>T ESAD-UK 7 43506432 43506432 single base substitution T G intron_variant ESAD-UK 7 43508318 43508318 single base substitution G A intron_variant ESAD-UK 7 43508621 43508621 single base substitution T A missense_variant L1006M 3016T>A ESAD-UK 7 43508621 43508621 single base substitution T A missense_variant L972M 2914T>A ESAD-UK 7 43509305 43509305 single base substitution G A intron_variant ESAD-UK 7 43509442 43509442 single base substitution G T intron_variant ESAD-UK 7 43509444 43509444 single base substitution T G intron_variant ESAD-UK 7 43509467 43509467 single base substitution C T intron_variant ESAD-UK 7 43509916 43509916 single base substitution T A intron_variant ESAD-UK 7 43510583 43510583 single base substitution A G intron_variant ESAD-UK 7 43510725 43510725 single base substitution T G intron_variant ESAD-UK 7 43510841 43510841 single base substitution G A intron_variant ESAD-UK 7 43511148 43511148 single base substitution C A intron_variant ESAD-UK 7 43511744 43511744 insertion of <=200bp - AA intron_variant ESAD-UK 7 43511790 43511790 single base substitution A G intron_variant ESAD-UK 7 43511899 43511899 single base substitution C T intron_variant ESAD-UK 7 43512744 43512744 single base substitution C A intron_variant ESAD-UK 7 43513156 43513156 single base substitution G A intron_variant ESAD-UK 7 43515656 43515656 deletion of <=200bp A - intron_variant ESAD-UK 7 43515656 43515656 deletion of <=200bp A - upstream_gene_variant ESAD-UK 7 43515922 43515922 single base substitution G T intron_variant ESAD-UK 7 43515922 43515922 single base substitution G T upstream_gene_variant ESAD-UK 7 43517733 43517733 single base substitution C A intron_variant ESAD-UK 7 43517733 43517733 single base substitution C A upstream_gene_variant ESAD-UK 7 43519441 43519441 single base substitution G A intron_variant ESAD-UK 7 43520243 43520244 deletion of <=200bp TG - intron_variant ESAD-UK 7 43520334 43520337 deletion of <=200bp ATAC - intron_variant ESAD-UK 7 43520916 43520916 single base substitution T C intron_variant ESAD-UK 7 43522959 43522959 single base substitution C A intron_variant ESAD-UK 7 43524125 43524125 single base substitution T C exon_variant ESAD-UK 7 43524125 43524125 single base substitution T C intron_variant ESAD-UK 7 43524683 43524683 single base substitution G C downstream_gene_variant ESAD-UK 7 43524683 43524683 single base substitution G C intron_variant ESAD-UK 7 43527583 43527583 insertion of <=200bp - G downstream_gene_variant ESAD-UK 7 43527583 43527583 insertion of <=200bp - G intron_variant ESAD-UK 7 43527584 43527584 insertion of <=200bp - GAGAG downstream_gene_variant ESAD-UK 7 43527584 43527584 insertion of <=200bp - GAGAG intron_variant ESAD-UK 7 43529592 43529592 single base substitution T A intron_variant ESAD-UK 7 43529696 43529696 single base substitution G A intron_variant ESAD-UK 7 43530307 43530307 deletion of <=200bp T - intron_variant ESAD-UK 7 43530662 43530662 single base substitution A C intron_variant ESAD-UK 7 43532372 43532372 single base substitution T G intron_variant ESAD-UK 7 43532380 43532380 single base substitution G C intron_variant ESAD-UK 7 43532692 43532692 single base substitution A G intron_variant ESAD-UK 7 43532692 43532692 single base substitution A G missense_variant D1083G 3248A>G ESAD-UK 7 43532692 43532692 single base substitution A G missense_variant D1117G 3350A>G ESAD-UK 7 43532969 43532969 single base substitution G A intron_variant ESAD-UK 7 43533027 43533027 deletion of <=200bp G - intron_variant ESAD-UK 7 43533151 43533151 single base substitution C T intron_variant ESAD-UK 7 43533363 43533363 single base substitution G A intron_variant ESAD-UK 7 43533585 43533585 single base substitution C G intron_variant ESAD-UK 7 43534002 43534002 single base substitution T C intron_variant ESAD-UK 7 43534588 43534588 single base substitution G A intron_variant ESAD-UK 7 43535711 43535711 single base substitution T C intron_variant ESAD-UK 7 43536035 43536035 single base substitution A T intron_variant ESAD-UK 7 43536315 43536315 single base substitution A C intron_variant ESAD-UK 7 43536553 43536553 single base substitution T C intron_variant ESAD-UK 7 43537386 43537386 single base substitution G A intron_variant ESAD-UK 7 43537705 43537705 single base substitution T C intron_variant ESAD-UK 7 43538045 43538045 single base substitution G A intron_variant ESAD-UK 7 43538266 43538266 single base substitution C T intron_variant ESAD-UK 7 43539001 43539001 single base substitution G C intron_variant ESAD-UK 7 43539234 43539234 single base substitution G T intron_variant ESAD-UK 7 43539423 43539423 single base substitution C T intron_variant ESAD-UK 7 43539648 43539648 single base substitution C T intron_variant ESAD-UK 7 43540318 43540318 single base substitution G A intron_variant ESAD-UK 7 43540318 43540318 single base substitution G A missense_variant R1119Q 3356G>A ESAD-UK 7 43540318 43540318 single base substitution G A missense_variant R1153Q 3458G>A ESAD-UK 7 43540475 43540475 single base substitution T C intron_variant ESAD-UK 7 43540826 43540826 single base substitution A G intron_variant ESAD-UK 7 43540826 43540826 single base substitution A G missense_variant E1145G 3434A>G ESAD-UK 7 43540826 43540826 single base substitution A G missense_variant E1179G 3536A>G ESAD-UK 7 43541196 43541196 single base substitution A G intron_variant ESAD-UK 7 43541371 43541371 deletion of <=200bp A - intron_variant ESAD-UK 7 43541996 43541996 single base substitution G A intron_variant ESAD-UK 7 43542874 43542874 single base substitution G A intron_variant ESAD-UK 7 43543325 43543325 single base substitution G C intron_variant ESAD-UK 7 43543783 43543783 single base substitution G A intron_variant ESAD-UK 7 43544825 43544825 single base substitution G A intron_variant ESAD-UK 7 43545027 43545027 single base substitution G C intron_variant ESAD-UK 7 43547678 43547678 single base substitution C T intron_variant ESAD-UK 7 43547678 43547678 single base substitution C T missense_variant R1238W 3712C>T ESAD-UK 7 43547678 43547678 single base substitution C T missense_variant R1272W 3814C>T ESAD-UK 7 43549349 43549349 single base substitution T A intron_variant ESAD-UK 7 43550274 43550274 single base substitution G A intron_variant ESAD-UK 7 43551377 43551377 single base substitution T G intron_variant ESAD-UK 7 43552355 43552355 single base substitution A T intron_variant ESAD-UK 7 43555147 43555147 single base substitution A C intron_variant ESAD-UK 7 43555405 43555405 single base substitution C T intron_variant ESAD-UK 7 43555820 43555820 single base substitution T G intron_variant ESAD-UK 7 43556425 43556425 single base substitution C T intron_variant ESAD-UK 7 43557034 43557034 single base substitution G T intron_variant ESAD-UK 7 43557111 43557111 single base substitution G C intron_variant ESAD-UK 7 43557136 43557136 single base substitution C T intron_variant ESAD-UK 7 43559732 43559732 single base substitution T G intron_variant ESAD-UK 7 43560229 43560229 single base substitution T G intron_variant ESAD-UK 7 43560258 43560258 single base substitution A T intron_variant ESAD-UK 7 43560510 43560510 insertion of <=200bp - A intron_variant ESAD-UK 7 43560761 43560761 single base substitution T G intron_variant ESAD-UK 7 43560981 43560981 single base substitution G T intron_variant ESAD-UK 7 43562312 43562312 single base substitution C T intron_variant ESAD-UK 7 43562902 43562902 single base substitution C T intron_variant ESAD-UK 7 43562941 43562941 single base substitution G T intron_variant ESAD-UK 7 43563606 43563606 single base substitution T A intron_variant ESAD-UK 7 43564414 43564414 single base substitution A C intron_variant ESAD-UK 7 43565026 43565026 single base substitution C G intron_variant ESAD-UK 7 43565168 43565168 single base substitution C T intron_variant ESAD-UK 7 43568030 43568030 single base substitution G A intron_variant ESAD-UK 7 43568777 43568777 single base substitution G A intron_variant ESAD-UK 7 43571880 43571880 single base substitution C T intron_variant ESAD-UK 7 43572552 43572552 single base substitution G T intron_variant ESAD-UK 7 43574052 43574052 single base substitution C T intron_variant ESAD-UK 7 43574663 43574663 single base substitution A T intron_variant ESAD-UK 7 43574999 43574999 single base substitution G T intron_variant ESAD-UK 7 43575198 43575198 single base substitution C T intron_variant ESAD-UK 7 43575653 43575653 single base substitution C T intron_variant ESAD-UK 7 43575750 43575750 single base substitution T G intron_variant ESAD-UK 7 43577395 43577395 single base substitution T A intron_variant ESAD-UK 7 43578630 43578630 deletion of <=200bp A - intron_variant ESAD-UK 7 43582205 43582205 single base substitution T G downstream_gene_variant ESAD-UK 7 43582205 43582205 single base substitution T G intron_variant ESAD-UK 7 43582961 43582961 single base substitution A G downstream_gene_variant ESAD-UK 7 43582961 43582961 single base substitution A G intron_variant ESAD-UK 7 43584647 43584647 single base substitution G C downstream_gene_variant ESAD-UK 7 43584647 43584647 single base substitution G C intron_variant ESAD-UK 7 43584851 43584851 single base substitution A G downstream_gene_variant ESAD-UK 7 43584851 43584851 single base substitution A G intron_variant ESAD-UK 7 43587102 43587102 single base substitution C T intron_variant ESAD-UK 7 43588278 43588278 single base substitution C T intron_variant ESAD-UK 7 43588400 43588400 single base substitution A G intron_variant ESAD-UK 7 43589937 43589937 single base substitution G A intron_variant ESAD-UK 7 43590187 43590187 single base substitution C T synonymous_variant Y1430Y 4290C>T ESAD-UK 7 43590187 43590187 single base substitution C T synonymous_variant Y1464Y 4392C>T ESAD-UK 7 43591710 43591710 single base substitution A T intron_variant ESAD-UK 7 43593103 43593103 insertion of <=200bp - A intron_variant ESAD-UK 7 43593290 43593290 single base substitution C A intron_variant ESAD-UK 7 43594241 43594241 single base substitution C T missense_variant R1487C 4459C>T ESAD-UK 7 43594241 43594241 single base substitution C T missense_variant R1521C 4561C>T ESAD-UK 7 43594273 43594273 single base substitution G A synonymous_variant L1497L 4491G>A ESAD-UK 7 43594273 43594273 single base substitution G A synonymous_variant L1531L 4593G>A ESAD-UK 7 43594479 43594479 single base substitution T A intron_variant ESAD-UK 7 43594971 43594971 single base substitution C T intron_variant ESAD-UK 7 43595186 43595186 single base substitution T G intron_variant ESAD-UK 7 43595556 43595556 single base substitution T C intron_variant ESAD-UK 7 43596491 43596491 single base substitution A G intron_variant ESAD-UK 7 43597673 43597673 single base substitution A G intron_variant ESAD-UK 7 43599115 43599115 single base substitution G A intron_variant ESAD-UK 7 43599980 43599980 single base substitution T G intron_variant ESAD-UK 7 43601540 43601540 single base substitution G A 3_prime_UTR_variant ESAD-UK 7 43602145 43602145 single base substitution C T 3_prime_UTR_variant ESAD-UK 7 43602145 43602145 single base substitution C T downstream_gene_variant ESAD-UK 7 43602913 43602913 single base substitution T A 3_prime_UTR_variant ESAD-UK 7 43602913 43602913 single base substitution T A downstream_gene_variant ESAD-UK 7 43603495 43603495 deletion of <=200bp T - 3_prime_UTR_variant ESAD-UK 7 43603495 43603495 deletion of <=200bp T - downstream_gene_variant ESAD-UK 7 43604374 43604374 single base substitution A G 3_prime_UTR_variant ESAD-UK 7 43604374 43604374 single base substitution A G downstream_gene_variant ESAD-UK 7 43604523 43604523 single base substitution A G 3_prime_UTR_variant ESAD-UK 7 43604523 43604523 single base substitution A G downstream_gene_variant ESAD-UK 7 43604591 43604591 single base substitution C T 3_prime_UTR_variant ESAD-UK 7 43604591 43604591 single base substitution C T downstream_gene_variant ESAD-UK 7 43605843 43605843 deletion of <=200bp T - downstream_gene_variant ESAD-UK 7 43607680 43607680 single base substitution C T downstream_gene_variant ESAD-UK 7 43608722 43608722 single base substitution A G downstream_gene_variant ESAD-UK 7 43610314 43610314 single base substitution A T downstream_gene_variant ESCA-CN 7 43283398 43283398 single base substitution T G intron_variant ESCA-CN 7 43283398 43283398 single base substitution T G upstream_gene_variant ESCA-CN 7 43351308 43351308 single base substitution T G intron_variant ESCA-CN 7 43351470 43351470 single base substitution G A exon_variant ESCA-CN 7 43351470 43351470 single base substitution G A missense_variant D46N 136G>A ESCA-CN 7 43351515 43351515 single base substitution G A exon_variant ESCA-CN 7 43351515 43351515 single base substitution G A missense_variant V61I 181G>A ESCA-CN 7 43360158 43360158 single base substitution G A intron_variant ESCA-CN 7 43360244 43360244 single base substitution G T exon_variant ESCA-CN 7 43360244 43360244 single base substitution G T missense_variant L121F 363G>T ESCA-CN 7 43360342 43360342 single base substitution G A splice_donor_variant ESCA-CN 7 43483819 43483819 single base substitution G A downstream_gene_variant ESCA-CN 7 43483819 43483819 single base substitution G A missense_variant D350N 1048G>A ESCA-CN 7 43484497 43484497 single base substitution G A downstream_gene_variant ESCA-CN 7 43484497 43484497 single base substitution G A missense_variant G576S 1726G>A ESCA-CN 7 43484910 43484910 single base substitution C T downstream_gene_variant ESCA-CN 7 43484910 43484910 single base substitution C T synonymous_variant F713F 2139C>T ESCA-CN 7 43581322 43581322 single base substitution A G intron_variant GBM-US 7 43351508 43351508 single base substitution C T exon_variant GBM-US 7 43351508 43351508 single base substitution C T synonymous_variant H58H 174C>T GBM-US 7 43360248 43360248 single base substitution G A exon_variant GBM-US 7 43360248 43360248 single base substitution G A missense_variant E123K 367G>A GBM-US 7 43360338 43360338 single base substitution G C exon_variant GBM-US 7 43360338 43360338 single base substitution G C missense_variant E153Q 457G>C GBM-US 7 43484236 43484236 single base substitution G T downstream_gene_variant GBM-US 7 43484236 43484236 single base substitution G T stop_gained E489* 1465G>T GBM-US 7 43484403 43484403 single base substitution G A downstream_gene_variant GBM-US 7 43484403 43484403 single base substitution G A synonymous_variant T544T 1632G>A GBM-US 7 43485067 43485067 single base substitution G A downstream_gene_variant GBM-US 7 43485067 43485067 single base substitution G A missense_variant A766T 2296G>A GBM-US 7 43485123 43485123 single base substitution G A downstream_gene_variant GBM-US 7 43485123 43485123 single base substitution G A synonymous_variant P784P 2352G>A GBM-US 7 43519279 43519279 single base substitution G A exon_variant GBM-US 7 43519279 43519279 single base substitution G A missense_variant R1023H 3068G>A GBM-US 7 43519279 43519279 single base substitution G A missense_variant R1057H 3170G>A GBM-US 7 43519279 43519279 single base substitution G A missense_variant R9H 26G>A KIRC-US 7 43351595 43351595 single base substitution C A downstream_gene_variant KIRC-US 7 43351595 43351595 single base substitution C A exon_variant KIRC-US 7 43351595 43351595 single base substitution C A stop_gained Y87* 261C>A KIRC-US 7 43400541 43400541 single base substitution A T exon_variant KIRC-US 7 43400541 43400541 single base substitution A T missense_variant T173S 517A>T KIRC-US 7 43484310 43484310 single base substitution T C downstream_gene_variant KIRC-US 7 43484310 43484310 single base substitution T C synonymous_variant S513S 1539T>C KIRC-US 7 43503283 43503283 single base substitution T C synonymous_variant I858I 2574T>C KIRC-US 7 43503283 43503283 single base substitution T C synonymous_variant I892I 2676T>C KIRC-US 7 43531769 43531769 single base substitution A G intron_variant KIRC-US 7 43531769 43531769 single base substitution A G synonymous_variant S1076S 3228A>G KIRC-US 7 43531769 43531769 single base substitution A G synonymous_variant S1110S 3330A>G KIRC-US 7 43548639 43548639 single base substitution G T intron_variant KIRC-US 7 43548639 43548639 single base substitution G T missense_variant G1279V 3836G>T KIRC-US 7 43548639 43548639 single base substitution G T missense_variant G1313V 3938G>T KIRP-US 7 43484075 43484075 single base substitution C A downstream_gene_variant KIRP-US 7 43484075 43484075 single base substitution C A missense_variant P435H 1304C>A KIRP-US 7 43490498 43490498 single base substitution T C intron_variant KIRP-US 7 43490498 43490498 single base substitution T C missense_variant Y824H 2470T>C KIRP-US 7 43508701 43508701 deletion of <=200bp A - frameshift_variant G1032 KIRP-US 7 43508701 43508701 deletion of <=200bp A - frameshift_variant G998 KIRP-US 7 43581576 43581576 single base substitution T A synonymous_variant V132V 396T>A KIRP-US 7 43581576 43581576 single base substitution T A synonymous_variant V1375V 4125T>A KIRP-US 7 43581576 43581576 single base substitution T A synonymous_variant V1409V 4227T>A LAML-KR 7 43379814 43379814 single base substitution A C intron_variant LAML-KR 7 43412827 43412827 single base substitution G T intron_variant LAML-KR 7 43412827 43412827 single base substitution G T upstream_gene_variant LAML-KR 7 43452640 43452640 single base substitution A G intron_variant LAML-KR 7 43452771 43452771 single base substitution A T intron_variant LAML-KR 7 43455593 43455593 single base substitution G A intron_variant LAML-KR 7 43506059 43506059 single base substitution A G synonymous_variant E901E 2703A>G LAML-KR 7 43506059 43506059 single base substitution A G synonymous_variant E935E 2805A>G LAML-KR 7 43506158 43506158 single base substitution T C synonymous_variant H934H 2802T>C LAML-KR 7 43506158 43506158 single base substitution T C synonymous_variant H968H 2904T>C LAML-KR 7 43519337 43519337 single base substitution T C exon_variant LAML-KR 7 43519337 43519337 single base substitution T C synonymous_variant A1042A 3126T>C LAML-KR 7 43519337 43519337 single base substitution T C synonymous_variant A1076A 3228T>C LAML-KR 7 43519337 43519337 single base substitution T C synonymous_variant A28A 84T>C LAML-KR 7 43605184 43605184 single base substitution A T 3_prime_UTR_variant LAML-KR 7 43605184 43605184 single base substitution A T downstream_gene_variant LGG-US 7 43483866 43483866 single base substitution G A downstream_gene_variant LGG-US 7 43483866 43483866 single base substitution G A synonymous_variant Q365Q 1095G>A LGG-US 7 43484733 43484733 single base substitution C T downstream_gene_variant LGG-US 7 43484733 43484733 single base substitution C T synonymous_variant T654T 1962C>T LGG-US 7 43581598 43581598 single base substitution G C downstream_gene_variant LGG-US 7 43581598 43581598 single base substitution G C splice_donor_variant LIAD-FR 7 43490453 43490453 single base substitution C A intron_variant LIAD-FR 7 43490453 43490453 single base substitution C A missense_variant Q809K 2425C>A LICA-CN 7 43482143 43482143 single base substitution C G downstream_gene_variant LICA-CN 7 43482143 43482143 single base substitution C G missense_variant S320R 960C>G LICA-CN 7 43484466 43484466 single base substitution C T downstream_gene_variant LICA-CN 7 43484466 43484466 single base substitution C T synonymous_variant T565T 1695C>T LICA-CN 7 43485000 43485000 single base substitution C A downstream_gene_variant LICA-CN 7 43485000 43485000 single base substitution C A missense_variant N743K 2229C>A LICA-CN 7 43548635 43548635 single base substitution T A intron_variant LICA-CN 7 43548635 43548635 single base substitution T A missense_variant Y1278N 3832T>A LICA-CN 7 43548635 43548635 single base substitution T A missense_variant Y1312N 3934T>A LICA-FR 7 43157189 43157189 single base substitution G A intron_variant LICA-FR 7 43160943 43160943 single base substitution C G intron_variant LICA-FR 7 43191462 43191462 single base substitution A T intron_variant LICA-FR 7 43197477 43197477 single base substitution A G intron_variant LICA-FR 7 43198136 43198136 single base substitution A T intron_variant LICA-FR 7 43198426 43198426 single base substitution A T intron_variant LICA-FR 7 43206414 43206414 single base substitution G A intron_variant LICA-FR 7 43238507 43238507 single base substitution T A intron_variant LICA-FR 7 43247846 43247846 single base substitution C T intron_variant LICA-FR 7 43262334 43262334 single base substitution A T intron_variant LICA-FR 7 43287574 43287574 single base substitution A T intron_variant LICA-FR 7 43287574 43287574 single base substitution A T upstream_gene_variant LICA-FR 7 43317497 43317497 single base substitution G T intron_variant LICA-FR 7 43318170 43318170 single base substitution C A intron_variant LICA-FR 7 43338593 43338593 single base substitution A C intron_variant LICA-FR 7 43351607 43351607 single base substitution G A downstream_gene_variant LICA-FR 7 43351607 43351607 single base substitution G A exon_variant LICA-FR 7 43351607 43351607 single base substitution G A synonymous_variant G91G 273G>A LICA-FR 7 43370496 43370496 single base substitution G T intron_variant LICA-FR 7 43371422 43371422 single base substitution T A intron_variant LICA-FR 7 43371913 43371913 single base substitution C G intron_variant LICA-FR 7 43380283 43380283 single base substitution T A intron_variant LICA-FR 7 43391005 43391005 single base substitution G A intron_variant LICA-FR 7 43401467 43401467 single base substitution C T intron_variant LICA-FR 7 43401650 43401650 single base substitution G A intron_variant LICA-FR 7 43402193 43402193 single base substitution T C intron_variant LICA-FR 7 43404916 43404916 single base substitution G A intron_variant LICA-FR 7 43413608 43413608 single base substitution T A intron_variant LICA-FR 7 43413608 43413608 single base substitution T A upstream_gene_variant LICA-FR 7 43419516 43419516 single base substitution C A intron_variant LICA-FR 7 43421097 43421097 single base substitution T G intron_variant LICA-FR 7 43422497 43422497 single base substitution A G intron_variant LICA-FR 7 43423082 43423082 single base substitution C T intron_variant LICA-FR 7 43427500 43427500 single base substitution A T intron_variant LICA-FR 7 43452025 43452028 deletion of <=200bp TTTA - downstream_gene_variant LICA-FR 7 43452025 43452028 deletion of <=200bp TTTA - intron_variant LICA-FR 7 43454791 43454791 single base substitution C G intron_variant LICA-FR 7 43454816 43454816 single base substitution A C intron_variant LICA-FR 7 43456000 43456000 single base substitution T C intron_variant LICA-FR 7 43464543 43464543 single base substitution T C intron_variant LICA-FR 7 43471958 43471958 single base substitution T A intron_variant LICA-FR 7 43483982 43483982 single base substitution G A downstream_gene_variant LICA-FR 7 43483982 43483982 single base substitution G A missense_variant G404D 1211G>A LICA-FR 7 43484319 43484319 single base substitution G T downstream_gene_variant LICA-FR 7 43484319 43484319 single base substitution G T missense_variant E516D 1548G>T LICA-FR 7 43484328 43484328 single base substitution G T downstream_gene_variant LICA-FR 7 43484328 43484328 single base substitution G T missense_variant E519D 1557G>T LICA-FR 7 43484700 43484700 single base substitution C A downstream_gene_variant LICA-FR 7 43484700 43484700 single base substitution C A synonymous_variant G643G 1929C>A LICA-FR 7 43484922 43484922 single base substitution G A downstream_gene_variant LICA-FR 7 43484922 43484922 single base substitution G A synonymous_variant T717T 2151G>A LICA-FR 7 43485754 43485754 insertion of <=200bp - TTGTTG intron_variant LICA-FR 7 43490453 43490453 single base substitution C A intron_variant LICA-FR 7 43490453 43490453 single base substitution C A missense_variant Q809K 2425C>A LICA-FR 7 43491832 43491832 single base substitution A G intron_variant LICA-FR 7 43492245 43492245 single base substitution T C intron_variant LICA-FR 7 43495977 43495977 single base substitution C G missense_variant T827R 2480C>G LICA-FR 7 43495977 43495977 single base substitution C G missense_variant T861R 2582C>G LICA-FR 7 43508689 43508689 single base substitution G A synonymous_variant T1028T 3084G>A LICA-FR 7 43508689 43508689 single base substitution G A synonymous_variant T994T 2982G>A LICA-FR 7 43559033 43559033 single base substitution C G intron_variant LICA-FR 7 43560199 43560199 single base substitution T C intron_variant LICA-FR 7 43570964 43570964 single base substitution C G intron_variant LICA-FR 7 43572982 43572982 single base substitution C A intron_variant LICA-FR 7 43591911 43591911 single base substitution C A synonymous_variant R1462R 4384C>A LICA-FR 7 43591911 43591911 single base substitution C A synonymous_variant R1496R 4486C>A LIHC-US 7 43484273 43484273 single base substitution A G downstream_gene_variant LIHC-US 7 43484273 43484273 single base substitution A G missense_variant E501G 1502A>G LIHC-US 7 43484350 43484350 single base substitution T A downstream_gene_variant LIHC-US 7 43484350 43484350 single base substitution T A missense_variant S527T 1579T>A LIHC-US 7 43484630 43484630 single base substitution C A downstream_gene_variant LIHC-US 7 43484630 43484630 single base substitution C A missense_variant P620H 1859C>A LIHC-US 7 43484963 43484963 single base substitution C A downstream_gene_variant LIHC-US 7 43484963 43484963 single base substitution C A missense_variant T731K 2192C>A LIHC-US 7 43506065 43506065 single base substitution A G synonymous_variant S903S 2709A>G LIHC-US 7 43506065 43506065 single base substitution A G synonymous_variant S937S 2811A>G LINC-JP 7 43150804 43150804 single base substitution T C upstream_gene_variant LINC-JP 7 43153998 43153998 single base substitution A T intron_variant LINC-JP 7 43153998 43153998 single base substitution A T splice_region_variant LINC-JP 7 43155272 43155272 single base substitution A G intron_variant LINC-JP 7 43164074 43164074 single base substitution C A intron_variant LINC-JP 7 43178908 43178908 single base substitution T C intron_variant LINC-JP 7 43186783 43186783 single base substitution A G intron_variant LINC-JP 7 43189032 43189032 single base substitution C T intron_variant LINC-JP 7 43195864 43195864 single base substitution G A intron_variant LINC-JP 7 43199468 43199468 single base substitution C A intron_variant LINC-JP 7 43205006 43205006 single base substitution T G intron_variant LINC-JP 7 43205588 43205588 single base substitution G A intron_variant LINC-JP 7 43209379 43209379 single base substitution C A intron_variant LINC-JP 7 43213941 43213941 single base substitution A G intron_variant LINC-JP 7 43214742 43214742 insertion of <=200bp - T intron_variant LINC-JP 7 43221673 43221673 single base substitution G A intron_variant LINC-JP 7 43224909 43224909 single base substitution T C intron_variant LINC-JP 7 43248414 43248414 single base substitution G T intron_variant LINC-JP 7 43250481 43250481 single base substitution G C intron_variant LINC-JP 7 43252399 43252399 single base substitution A G intron_variant LINC-JP 7 43277564 43277564 single base substitution T A intron_variant LINC-JP 7 43283340 43283340 single base substitution C T intron_variant LINC-JP 7 43283340 43283340 single base substitution C T upstream_gene_variant LINC-JP 7 43283705 43283705 single base substitution T C intron_variant LINC-JP 7 43283705 43283705 single base substitution T C upstream_gene_variant LINC-JP 7 43290161 43290161 single base substitution G A intron_variant LINC-JP 7 43296900 43296900 single base substitution G A intron_variant LINC-JP 7 43306943 43306943 single base substitution G A intron_variant LINC-JP 7 43325735 43325735 single base substitution A G intron_variant LINC-JP 7 43325738 43325738 single base substitution A G intron_variant LINC-JP 7 43326912 43326912 single base substitution G T intron_variant LINC-JP 7 43327102 43327102 single base substitution T C intron_variant LINC-JP 7 43328827 43328827 single base substitution T A intron_variant LINC-JP 7 43341383 43341383 single base substitution A G intron_variant LINC-JP 7 43351171 43351171 single base substitution C T intron_variant LINC-JP 7 43351413 43351413 single base substitution A G exon_variant LINC-JP 7 43351413 43351413 single base substitution A G missense_variant R27G 79A>G LINC-JP 7 43351431 43351431 single base substitution C T exon_variant LINC-JP 7 43351431 43351431 single base substitution C T missense_variant R33C 97C>T LINC-JP 7 43353819 43353819 single base substitution A C downstream_gene_variant LINC-JP 7 43353819 43353819 single base substitution A C intron_variant LINC-JP 7 43356499 43356499 single base substitution T A downstream_gene_variant LINC-JP 7 43356499 43356499 single base substitution T A intron_variant LINC-JP 7 43358273 43358273 single base substitution T C intron_variant LINC-JP 7 43361418 43361418 single base substitution G T intron_variant LINC-JP 7 43380361 43380361 single base substitution G A intron_variant LINC-JP 7 43395314 43395314 single base substitution G T intron_variant LINC-JP 7 43396443 43396443 single base substitution G C intron_variant LINC-JP 7 43400364 43400364 single base substitution G A intron_variant LINC-JP 7 43408856 43408856 single base substitution G A intron_variant LINC-JP 7 43413725 43413725 single base substitution C T intron_variant LINC-JP 7 43413725 43413725 single base substitution C T upstream_gene_variant LINC-JP 7 43421618 43421618 single base substitution C T intron_variant LINC-JP 7 43446275 43446275 single base substitution G A intron_variant LINC-JP 7 43447030 43447030 single base substitution T C intron_variant LINC-JP 7 43449811 43449811 single base substitution T A downstream_gene_variant LINC-JP 7 43449811 43449811 single base substitution T A intron_variant LINC-JP 7 43458011 43458011 single base substitution T C intron_variant LINC-JP 7 43463759 43463759 single base substitution G A intron_variant LINC-JP 7 43483874 43483874 single base substitution C T downstream_gene_variant LINC-JP 7 43483874 43483874 single base substitution C T missense_variant P368L 1103C>T LINC-JP 7 43490282 43490282 single base substitution A G intron_variant LINC-JP 7 43490310 43490310 single base substitution T C intron_variant LINC-JP 7 43513780 43513780 single base substitution G A intron_variant LINC-JP 7 43520335 43520335 single base substitution T C intron_variant LINC-JP 7 43525686 43525686 single base substitution T A downstream_gene_variant LINC-JP 7 43525686 43525686 single base substitution T A intron_variant LINC-JP 7 43532657 43532657 single base substitution C T intron_variant LINC-JP 7 43541138 43541138 single base substitution A G intron_variant LINC-JP 7 43580740 43580740 single base substitution C A intron_variant LINC-JP 7 43583942 43583942 single base substitution T G downstream_gene_variant LINC-JP 7 43583942 43583942 single base substitution T G intron_variant LINC-JP 7 43591577 43591577 single base substitution C A intron_variant LINC-JP 7 43594346 43594346 single base substitution C T missense_variant R1522C 4564C>T LINC-JP 7 43594346 43594346 single base substitution C T missense_variant R1556C 4666C>T LINC-JP 7 43594560 43594560 single base substitution C T intron_variant LINC-JP 7 43595339 43595339 single base substitution C A intron_variant LIRI-JP 7 43147850 43147850 single base substitution C A upstream_gene_variant LIRI-JP 7 43148195 43148195 single base substitution G T upstream_gene_variant LIRI-JP 7 43149380 43149380 single base substitution C T upstream_gene_variant LIRI-JP 7 43149532 43149532 deletion of <=200bp C - upstream_gene_variant LIRI-JP 7 43150720 43150720 single base substitution A T upstream_gene_variant LIRI-JP 7 43151071 43151072 deletion of <=200bp TG - upstream_gene_variant LIRI-JP 7 43151629 43151629 single base substitution T C upstream_gene_variant LIRI-JP 7 43153920 43153920 single base substitution A G 5_prime_UTR_variant LIRI-JP 7 43153920 43153920 single base substitution A G exon_variant LIRI-JP 7 43153920 43153920 single base substitution A G intron_variant LIRI-JP 7 43154045 43154045 single base substitution G A intron_variant LIRI-JP 7 43154601 43154601 single base substitution A T intron_variant LIRI-JP 7 43154826 43154826 single base substitution A G intron_variant LIRI-JP 7 43156621 43156621 single base substitution T C intron_variant LIRI-JP 7 43157259 43157259 single base substitution T A intron_variant LIRI-JP 7 43158415 43158415 single base substitution A C intron_variant LIRI-JP 7 43158918 43158918 single base substitution G A intron_variant LIRI-JP 7 43158938 43158938 single base substitution G A intron_variant LIRI-JP 7 43159102 43159102 single base substitution T C intron_variant LIRI-JP 7 43159888 43159888 single base substitution C A intron_variant LIRI-JP 7 43160040 43160040 single base substitution C A intron_variant LIRI-JP 7 43160361 43160361 single base substitution G T intron_variant LIRI-JP 7 43161464 43161464 single base substitution T C intron_variant LIRI-JP 7 43161547 43161547 single base substitution G T intron_variant LIRI-JP 7 43161548 43161548 single base substitution A C intron_variant LIRI-JP 7 43162445 43162445 single base substitution T C intron_variant LIRI-JP 7 43162644 43162644 single base substitution A G intron_variant LIRI-JP 7 43163384 43163384 single base substitution C T intron_variant LIRI-JP 7 43164344 43164344 single base substitution A G intron_variant LIRI-JP 7 43165031 43165031 single base substitution A G intron_variant LIRI-JP 7 43165530 43165530 single base substitution C A intron_variant LIRI-JP 7 43168971 43168971 single base substitution T C intron_variant LIRI-JP 7 43168995 43168995 single base substitution T G intron_variant LIRI-JP 7 43169561 43169561 single base substitution T C intron_variant LIRI-JP 7 43170857 43170857 single base substitution C A intron_variant LIRI-JP 7 43171403 43171403 single base substitution C T intron_variant LIRI-JP 7 43171547 43171547 single base substitution T C intron_variant LIRI-JP 7 43171563 43171563 single base substitution C A intron_variant LIRI-JP 7 43172331 43172331 single base substitution T G intron_variant LIRI-JP 7 43173053 43173053 single base substitution G T intron_variant LIRI-JP 7 43173630 43173630 single base substitution A G intron_variant LIRI-JP 7 43173857 43173857 single base substitution G T intron_variant LIRI-JP 7 43173859 43173859 single base substitution G T intron_variant LIRI-JP 7 43175181 43175181 single base substitution T A intron_variant LIRI-JP 7 43177736 43177736 single base substitution A T intron_variant LIRI-JP 7 43178201 43178201 single base substitution T C intron_variant LIRI-JP 7 43179688 43179688 single base substitution T A intron_variant LIRI-JP 7 43179912 43179912 single base substitution G A intron_variant LIRI-JP 7 43180069 43180069 single base substitution A T intron_variant LIRI-JP 7 43181159 43181159 single base substitution C T intron_variant LIRI-JP 7 43181185 43181185 single base substitution C T intron_variant LIRI-JP 7 43181540 43181540 single base substitution G T intron_variant LIRI-JP 7 43181845 43181845 single base substitution G T intron_variant LIRI-JP 7 43182950 43182950 single base substitution A G intron_variant LIRI-JP 7 43183695 43183695 single base substitution G T intron_variant LIRI-JP 7 43183947 43183947 single base substitution A C intron_variant LIRI-JP 7 43184499 43184499 single base substitution A G intron_variant LIRI-JP 7 43184989 43184989 single base substitution G T intron_variant LIRI-JP 7 43185004 43185004 single base substitution C G intron_variant LIRI-JP 7 43187244 43187244 single base substitution C T intron_variant LIRI-JP 7 43187450 43187450 single base substitution T C intron_variant LIRI-JP 7 43188569 43188569 single base substitution G T intron_variant LIRI-JP 7 43189661 43189661 single base substitution A G intron_variant LIRI-JP 7 43190006 43190006 single base substitution C A intron_variant LIRI-JP 7 43190368 43190368 single base substitution C T intron_variant LIRI-JP 7 43190836 43190836 single base substitution C A intron_variant LIRI-JP 7 43191012 43191012 single base substitution A G intron_variant LIRI-JP 7 43191288 43191288 single base substitution G A intron_variant LIRI-JP 7 43191383 43191383 single base substitution C G intron_variant LIRI-JP 7 43191408 43191408 single base substitution G A intron_variant LIRI-JP 7 43192193 43192193 single base substitution T C intron_variant LIRI-JP 7 43192334 43192334 single base substitution T C intron_variant LIRI-JP 7 43193486 43193486 single base substitution C T intron_variant LIRI-JP 7 43193650 43193650 single base substitution A G intron_variant LIRI-JP 7 43193769 43193769 single base substitution A G intron_variant LIRI-JP 7 43194906 43194906 single base substitution A T intron_variant LIRI-JP 7 43195223 43195223 single base substitution C T intron_variant LIRI-JP 7 43195354 43195354 single base substitution A G intron_variant LIRI-JP 7 43195430 43195430 single base substitution A G intron_variant LIRI-JP 7 43195878 43195878 single base substitution G A intron_variant LIRI-JP 7 43196068 43196068 deletion of <=200bp C - intron_variant LIRI-JP 7 43196502 43196502 single base substitution A T intron_variant LIRI-JP 7 43196594 43196594 single base substitution G T intron_variant LIRI-JP 7 43196771 43196771 single base substitution A G intron_variant LIRI-JP 7 43197384 43197384 single base substitution T A intron_variant LIRI-JP 7 43199776 43199776 single base substitution T C intron_variant LIRI-JP 7 43200146 43200146 single base substitution T C intron_variant LIRI-JP 7 43200273 43200273 single base substitution A G intron_variant LIRI-JP 7 43200391 43200391 single base substitution T C intron_variant LIRI-JP 7 43201445 43201445 single base substitution T C intron_variant LIRI-JP 7 43203942 43203942 single base substitution G A intron_variant LIRI-JP 7 43204208 43204210 deletion of <=200bp CTG - intron_variant LIRI-JP 7 43204220 43204220 single base substitution C G intron_variant LIRI-JP 7 43205417 43205417 single base substitution T C intron_variant LIRI-JP 7 43205721 43205721 single base substitution C A intron_variant LIRI-JP 7 43206071 43206071 single base substitution C A intron_variant LIRI-JP 7 43207193 43207193 single base substitution G T intron_variant LIRI-JP 7 43207811 43207811 single base substitution A G intron_variant LIRI-JP 7 43210663 43210663 single base substitution G T intron_variant LIRI-JP 7 43210745 43210745 single base substitution T C intron_variant LIRI-JP 7 43210855 43210855 single base substitution C G intron_variant LIRI-JP 7 43211047 43211047 single base substitution A G intron_variant LIRI-JP 7 43212790 43212790 single base substitution A T intron_variant LIRI-JP 7 43213118 43213118 single base substitution T A intron_variant LIRI-JP 7 43213974 43213974 single base substitution C T intron_variant LIRI-JP 7 43214511 43214511 single base substitution A T intron_variant LIRI-JP 7 43214728 43214728 single base substitution T C intron_variant LIRI-JP 7 43216488 43216488 single base substitution A G intron_variant LIRI-JP 7 43216843 43216843 single base substitution C T intron_variant LIRI-JP 7 43217730 43217730 single base substitution A G intron_variant LIRI-JP 7 43217950 43217951 deletion of <=200bp TC - intron_variant LIRI-JP 7 43219134 43219134 single base substitution G A intron_variant LIRI-JP 7 43219419 43219419 single base substitution T A intron_variant LIRI-JP 7 43220725 43220725 single base substitution C T intron_variant LIRI-JP 7 43221688 43221688 single base substitution T C intron_variant LIRI-JP 7 43222928 43222928 single base substitution G A intron_variant LIRI-JP 7 43223197 43223197 single base substitution A T intron_variant LIRI-JP 7 43225290 43225290 single base substitution T C intron_variant LIRI-JP 7 43226301 43226301 single base substitution A G intron_variant LIRI-JP 7 43227250 43227250 single base substitution T C intron_variant LIRI-JP 7 43228838 43228838 single base substitution C T intron_variant LIRI-JP 7 43228911 43228911 single base substitution T A intron_variant LIRI-JP 7 43228970 43228970 single base substitution G A intron_variant LIRI-JP 7 43229366 43229366 single base substitution G A intron_variant LIRI-JP 7 43229638 43229638 single base substitution A G intron_variant LIRI-JP 7 43230168 43230168 single base substitution T C intron_variant LIRI-JP 7 43232119 43232119 single base substitution T C intron_variant LIRI-JP 7 43232410 43232410 single base substitution T C intron_variant LIRI-JP 7 43236254 43236254 single base substitution T C intron_variant LIRI-JP 7 43237051 43237051 single base substitution G A intron_variant LIRI-JP 7 43239549 43239549 single base substitution C A intron_variant LIRI-JP 7 43240438 43240438 single base substitution T A intron_variant LIRI-JP 7 43241927 43241927 single base substitution A T intron_variant LIRI-JP 7 43242406 43242406 single base substitution G T intron_variant LIRI-JP 7 43243965 43243965 single base substitution T G intron_variant LIRI-JP 7 43244007 43244007 single base substitution T C intron_variant LIRI-JP 7 43245182 43245182 single base substitution T C intron_variant LIRI-JP 7 43245236 43245236 single base substitution G T intron_variant LIRI-JP 7 43245475 43245475 single base substitution G A intron_variant LIRI-JP 7 43246565 43246565 single base substitution A G intron_variant LIRI-JP 7 43246581 43246581 single base substitution T C intron_variant LIRI-JP 7 43246631 43246631 single base substitution C A intron_variant LIRI-JP 7 43247466 43247466 single base substitution T A intron_variant LIRI-JP 7 43247735 43247735 single base substitution T C intron_variant LIRI-JP 7 43247836 43247836 single base substitution G C intron_variant LIRI-JP 7 43249078 43249078 single base substitution G A intron_variant LIRI-JP 7 43250366 43250366 single base substitution C T intron_variant LIRI-JP 7 43251612 43251612 single base substitution G C intron_variant LIRI-JP 7 43252875 43252875 single base substitution G A intron_variant LIRI-JP 7 43253691 43253691 single base substitution T C intron_variant LIRI-JP 7 43254006 43254006 single base substitution T C intron_variant LIRI-JP 7 43254061 43254061 single base substitution G A intron_variant LIRI-JP 7 43254446 43254446 single base substitution G A intron_variant LIRI-JP 7 43254724 43254724 single base substitution C G intron_variant LIRI-JP 7 43255798 43255798 single base substitution G A intron_variant LIRI-JP 7 43255970 43255970 single base substitution C G intron_variant LIRI-JP 7 43257013 43257013 single base substitution A G intron_variant LIRI-JP 7 43259320 43259320 single base substitution T A intron_variant LIRI-JP 7 43260221 43260221 single base substitution A T intron_variant LIRI-JP 7 43260523 43260523 single base substitution A G intron_variant LIRI-JP 7 43260573 43260573 single base substitution T A intron_variant LIRI-JP 7 43260829 43260829 single base substitution G A intron_variant LIRI-JP 7 43260863 43260863 single base substitution G A intron_variant LIRI-JP 7 43262520 43262520 single base substitution A G intron_variant LIRI-JP 7 43262605 43262605 single base substitution T C intron_variant LIRI-JP 7 43264151 43264151 single base substitution G A intron_variant LIRI-JP 7 43265971 43265971 single base substitution C T intron_variant LIRI-JP 7 43266274 43266274 single base substitution G T intron_variant LIRI-JP 7 43266794 43266794 single base substitution A G intron_variant LIRI-JP 7 43268365 43268365 single base substitution A G intron_variant LIRI-JP 7 43269388 43269388 single base substitution C A intron_variant LIRI-JP 7 43269714 43269714 single base substitution G A intron_variant LIRI-JP 7 43270813 43270813 single base substitution T C intron_variant LIRI-JP 7 43274154 43274154 single base substitution C A intron_variant LIRI-JP 7 43274244 43274244 single base substitution C T intron_variant LIRI-JP 7 43277300 43277300 single base substitution G T intron_variant LIRI-JP 7 43278023 43278023 deletion of <=200bp G - intron_variant LIRI-JP 7 43278217 43278217 single base substitution T A intron_variant LIRI-JP 7 43280532 43280532 single base substitution C T intron_variant LIRI-JP 7 43282409 43282409 single base substitution G A intron_variant LIRI-JP 7 43283124 43283124 single base substitution T A intron_variant LIRI-JP 7 43285913 43285913 single base substitution G C intron_variant LIRI-JP 7 43285913 43285913 single base substitution G C upstream_gene_variant LIRI-JP 7 43288701 43288701 single base substitution C T exon_variant LIRI-JP 7 43288701 43288701 single base substitution C T intron_variant LIRI-JP 7 43288701 43288701 single base substitution C T upstream_gene_variant LIRI-JP 7 43288831 43288831 single base substitution C A exon_variant LIRI-JP 7 43288831 43288831 single base substitution C A intron_variant LIRI-JP 7 43288873 43288873 single base substitution G A exon_variant LIRI-JP 7 43288873 43288873 single base substitution G A intron_variant LIRI-JP 7 43290871 43290871 single base substitution G A intron_variant LIRI-JP 7 43290972 43290972 single base substitution G A intron_variant LIRI-JP 7 43291212 43291212 single base substitution G A intron_variant LIRI-JP 7 43291714 43291714 single base substitution C A intron_variant LIRI-JP 7 43292270 43292270 single base substitution C G intron_variant LIRI-JP 7 43292570 43292570 single base substitution A G intron_variant LIRI-JP 7 43294379 43294379 single base substitution T C intron_variant LIRI-JP 7 43295659 43295659 single base substitution G A intron_variant LIRI-JP 7 43296087 43296087 single base substitution A T intron_variant LIRI-JP 7 43296123 43296123 single base substitution G A intron_variant LIRI-JP 7 43296774 43296774 single base substitution T C intron_variant LIRI-JP 7 43296782 43296782 single base substitution A G intron_variant LIRI-JP 7 43299000 43299000 single base substitution G T downstream_gene_variant LIRI-JP 7 43299000 43299000 single base substitution G T intron_variant LIRI-JP 7 43299219 43299219 single base substitution T G downstream_gene_variant LIRI-JP 7 43299219 43299219 single base substitution T G intron_variant LIRI-JP 7 43299449 43299449 single base substitution G A downstream_gene_variant LIRI-JP 7 43299449 43299449 single base substitution G A intron_variant LIRI-JP 7 43301375 43301375 single base substitution C T downstream_gene_variant LIRI-JP 7 43301375 43301375 single base substitution C T intron_variant LIRI-JP 7 43302019 43302019 single base substitution A G downstream_gene_variant LIRI-JP 7 43302019 43302019 single base substitution A G intron_variant LIRI-JP 7 43302062 43302062 single base substitution C A downstream_gene_variant LIRI-JP 7 43302062 43302062 single base substitution C A intron_variant LIRI-JP 7 43304262 43304262 single base substitution G C intron_variant LIRI-JP 7 43305718 43305718 single base substitution T C intron_variant LIRI-JP 7 43305846 43305846 single base substitution T C intron_variant LIRI-JP 7 43306397 43306397 single base substitution C T intron_variant LIRI-JP 7 43307015 43307015 single base substitution A G intron_variant LIRI-JP 7 43307349 43307349 single base substitution A T intron_variant LIRI-JP 7 43307652 43307659 deletion of <=200bp TTAAATTA - intron_variant LIRI-JP 7 43307687 43307694 deletion of <=200bp ATTTACGC - intron_variant LIRI-JP 7 43308624 43308624 single base substitution A T intron_variant LIRI-JP 7 43309778 43309778 single base substitution A G intron_variant LIRI-JP 7 43310319 43310319 single base substitution A G intron_variant LIRI-JP 7 43310552 43310552 single base substitution C A intron_variant LIRI-JP 7 43310647 43310647 single base substitution T A intron_variant LIRI-JP 7 43311923 43311923 single base substitution T C intron_variant LIRI-JP 7 43312307 43312307 single base substitution T C intron_variant LIRI-JP 7 43312861 43312861 single base substitution C T intron_variant LIRI-JP 7 43312999 43312999 single base substitution T G intron_variant LIRI-JP 7 43313173 43313173 single base substitution G C intron_variant LIRI-JP 7 43314021 43314021 single base substitution C T intron_variant LIRI-JP 7 43315896 43315896 single base substitution T C intron_variant LIRI-JP 7 43316224 43316224 single base substitution A G intron_variant LIRI-JP 7 43317415 43317415 single base substitution C G intron_variant LIRI-JP 7 43317586 43317586 single base substitution G A intron_variant LIRI-JP 7 43318023 43318023 single base substitution C A intron_variant LIRI-JP 7 43318898 43318898 single base substitution G A intron_variant LIRI-JP 7 43319383 43319383 single base substitution G A intron_variant LIRI-JP 7 43319451 43319451 single base substitution A G intron_variant LIRI-JP 7 43320113 43320113 single base substitution T C intron_variant LIRI-JP 7 43321836 43321836 single base substitution T G intron_variant LIRI-JP 7 43324857 43324857 single base substitution A C intron_variant LIRI-JP 7 43325007 43325007 single base substitution A G intron_variant LIRI-JP 7 43326138 43326138 single base substitution T C intron_variant LIRI-JP 7 43327595 43327595 single base substitution G C intron_variant LIRI-JP 7 43330073 43330073 single base substitution T A intron_variant LIRI-JP 7 43331327 43331327 single base substitution A G intron_variant LIRI-JP 7 43333066 43333066 single base substitution A C intron_variant LIRI-JP 7 43333088 43333088 single base substitution A T intron_variant LIRI-JP 7 43333591 43333591 single base substitution G A intron_variant LIRI-JP 7 43333641 43333641 single base substitution C A intron_variant LIRI-JP 7 43335006 43335006 single base substitution T C intron_variant LIRI-JP 7 43335125 43335125 single base substitution C A intron_variant LIRI-JP 7 43335826 43335826 single base substitution G T intron_variant LIRI-JP 7 43336705 43336705 single base substitution T C intron_variant LIRI-JP 7 43338800 43338800 single base substitution T C intron_variant LIRI-JP 7 43338991 43338991 single base substitution G T intron_variant LIRI-JP 7 43339311 43339311 single base substitution C T intron_variant LIRI-JP 7 43339394 43339394 single base substitution T C intron_variant LIRI-JP 7 43339755 43339755 single base substitution T G intron_variant LIRI-JP 7 43340904 43340904 single base substitution G C intron_variant LIRI-JP 7 43343896 43343896 single base substitution G A intron_variant LIRI-JP 7 43345823 43345823 single base substitution C G intron_variant LIRI-JP 7 43346030 43346030 single base substitution T C intron_variant LIRI-JP 7 43346521 43346521 single base substitution C T intron_variant LIRI-JP 7 43347102 43347102 single base substitution A T intron_variant LIRI-JP 7 43348206 43348206 single base substitution A G intron_variant LIRI-JP 7 43348250 43348250 single base substitution G T intron_variant LIRI-JP 7 43348410 43348410 single base substitution G A intron_variant LIRI-JP 7 43348686 43348686 single base substitution A T intron_variant LIRI-JP 7 43349880 43349880 single base substitution G A intron_variant LIRI-JP 7 43353619 43353619 single base substitution T C downstream_gene_variant LIRI-JP 7 43353619 43353619 single base substitution T C intron_variant LIRI-JP 7 43354774 43354774 single base substitution T C downstream_gene_variant LIRI-JP 7 43354774 43354774 single base substitution T C intron_variant LIRI-JP 7 43354959 43354959 single base substitution T G downstream_gene_variant LIRI-JP 7 43354959 43354959 single base substitution T G intron_variant LIRI-JP 7 43355358 43355358 single base substitution C T downstream_gene_variant LIRI-JP 7 43355358 43355358 single base substitution C T intron_variant LIRI-JP 7 43356794 43356794 single base substitution C T intron_variant LIRI-JP 7 43357159 43357159 single base substitution G A intron_variant LIRI-JP 7 43357542 43357542 single base substitution C A intron_variant LIRI-JP 7 43357612 43357612 single base substitution T C intron_variant LIRI-JP 7 43359573 43359573 single base substitution G T intron_variant LIRI-JP 7 43361756 43361756 single base substitution C G intron_variant LIRI-JP 7 43362357 43362357 single base substitution G A intron_variant LIRI-JP 7 43362654 43362654 single base substitution G A intron_variant LIRI-JP 7 43364244 43364244 single base substitution T C intron_variant LIRI-JP 7 43365506 43365506 single base substitution G C intron_variant LIRI-JP 7 43366496 43366496 single base substitution C A intron_variant LIRI-JP 7 43368286 43368286 single base substitution C T intron_variant LIRI-JP 7 43372824 43372824 single base substitution T C intron_variant LIRI-JP 7 43373382 43373382 single base substitution G T intron_variant LIRI-JP 7 43375833 43375833 single base substitution G A intron_variant LIRI-JP 7 43376449 43376449 single base substitution C A intron_variant LIRI-JP 7 43376706 43376706 single base substitution G C intron_variant LIRI-JP 7 43377926 43377926 single base substitution C A intron_variant LIRI-JP 7 43378169 43378169 single base substitution G T intron_variant LIRI-JP 7 43378681 43378681 single base substitution T A intron_variant LIRI-JP 7 43380793 43380793 single base substitution T A intron_variant LIRI-JP 7 43381276 43381276 single base substitution C T intron_variant LIRI-JP 7 43382575 43382575 single base substitution A C intron_variant LIRI-JP 7 43383297 43383297 single base substitution G A intron_variant LIRI-JP 7 43386044 43386044 single base substitution A G intron_variant LIRI-JP 7 43388233 43388233 single base substitution A G intron_variant LIRI-JP 7 43388732 43388732 single base substitution C T intron_variant LIRI-JP 7 43388783 43388783 single base substitution G A intron_variant LIRI-JP 7 43388786 43388786 single base substitution A G intron_variant LIRI-JP 7 43388795 43388795 single base substitution G A intron_variant LIRI-JP 7 43389640 43389640 single base substitution C T intron_variant LIRI-JP 7 43390401 43390401 single base substitution C T intron_variant LIRI-JP 7 43390964 43390964 single base substitution C A intron_variant LIRI-JP 7 43392662 43392662 single base substitution G A intron_variant LIRI-JP 7 43392796 43392796 single base substitution G A intron_variant LIRI-JP 7 43393408 43393408 single base substitution G T intron_variant LIRI-JP 7 43393816 43393816 single base substitution C T intron_variant LIRI-JP 7 43394903 43394903 single base substitution G A intron_variant LIRI-JP 7 43395199 43395199 single base substitution T C intron_variant LIRI-JP 7 43395701 43395701 single base substitution G T intron_variant LIRI-JP 7 43395702 43395702 single base substitution G T intron_variant LIRI-JP 7 43399474 43399474 single base substitution A G intron_variant LIRI-JP 7 43403694 43403694 single base substitution T C intron_variant LIRI-JP 7 43404560 43404560 single base substitution G A intron_variant LIRI-JP 7 43404955 43404955 single base substitution C T intron_variant LIRI-JP 7 43405116 43405117 deletion of <=200bp TG - intron_variant LIRI-JP 7 43405195 43405195 single base substitution C G intron_variant LIRI-JP 7 43405866 43405866 single base substitution T C intron_variant LIRI-JP 7 43407410 43407410 single base substitution T C intron_variant LIRI-JP 7 43409928 43409928 single base substitution A G intron_variant LIRI-JP 7 43410738 43410738 single base substitution G A intron_variant LIRI-JP 7 43410860 43410860 single base substitution C A intron_variant LIRI-JP 7 43412167 43412167 single base substitution A G intron_variant LIRI-JP 7 43413797 43413797 single base substitution A G intron_variant LIRI-JP 7 43413797 43413797 single base substitution A G upstream_gene_variant LIRI-JP 7 43414040 43414040 single base substitution A G intron_variant LIRI-JP 7 43414040 43414040 single base substitution A G upstream_gene_variant LIRI-JP 7 43418066 43418066 single base substitution C T intron_variant LIRI-JP 7 43419617 43419617 single base substitution C G intron_variant LIRI-JP 7 43419761 43419761 single base substitution C G intron_variant LIRI-JP 7 43420020 43420020 single base substitution A T intron_variant LIRI-JP 7 43420801 43420801 single base substitution T G intron_variant LIRI-JP 7 43422124 43422124 single base substitution G C intron_variant LIRI-JP 7 43426778 43426778 single base substitution C T intron_variant LIRI-JP 7 43429127 43429127 single base substitution A G intron_variant LIRI-JP 7 43430271 43430271 single base substitution G C intron_variant LIRI-JP 7 43431229 43431229 single base substitution T C intron_variant LIRI-JP 7 43432627 43432627 single base substitution T C intron_variant LIRI-JP 7 43432627 43432627 single base substitution T C upstream_gene_variant LIRI-JP 7 43433042 43433042 single base substitution A T intron_variant LIRI-JP 7 43433042 43433042 single base substitution A T upstream_gene_variant LIRI-JP 7 43435729 43435729 single base substitution A G intron_variant LIRI-JP 7 43435729 43435729 single base substitution A G upstream_gene_variant LIRI-JP 7 43435733 43435733 single base substitution G T intron_variant LIRI-JP 7 43435733 43435733 single base substitution G T upstream_gene_variant LIRI-JP 7 43439838 43439838 single base substitution A G intron_variant LIRI-JP 7 43440378 43440378 single base substitution A G intron_variant LIRI-JP 7 43440599 43440599 single base substitution A T intron_variant LIRI-JP 7 43441358 43441358 single base substitution C A intron_variant LIRI-JP 7 43442672 43442672 single base substitution C T intron_variant LIRI-JP 7 43444387 43444387 single base substitution A T intron_variant LIRI-JP 7 43444451 43444451 single base substitution T A intron_variant LIRI-JP 7 43445377 43445377 single base substitution G C intron_variant LIRI-JP 7 43445755 43445755 single base substitution C A intron_variant LIRI-JP 7 43445971 43445971 single base substitution A T intron_variant LIRI-JP 7 43449029 43449029 single base substitution A G downstream_gene_variant LIRI-JP 7 43449029 43449029 single base substitution A G intron_variant LIRI-JP 7 43452008 43452008 single base substitution T C downstream_gene_variant LIRI-JP 7 43452008 43452008 single base substitution T C intron_variant LIRI-JP 7 43457364 43457364 single base substitution G A intron_variant LIRI-JP 7 43459738 43459738 single base substitution A G intron_variant LIRI-JP 7 43461884 43461884 single base substitution T C intron_variant LIRI-JP 7 43462227 43462227 single base substitution C A intron_variant LIRI-JP 7 43463435 43463435 single base substitution T G intron_variant LIRI-JP 7 43465732 43465732 single base substitution G T intron_variant LIRI-JP 7 43467156 43467156 single base substitution G A intron_variant LIRI-JP 7 43469495 43469495 single base substitution C T intron_variant LIRI-JP 7 43474962 43474962 insertion of <=200bp - TGGG intron_variant LIRI-JP 7 43476185 43476185 single base substitution G A intron_variant LIRI-JP 7 43476368 43476368 single base substitution G A intron_variant LIRI-JP 7 43477632 43477632 single base substitution G A exon_variant LIRI-JP 7 43477632 43477632 single base substitution G A missense_variant V278M 832G>A LIRI-JP 7 43477903 43477903 single base substitution A G exon_variant LIRI-JP 7 43477903 43477903 single base substitution A G intron_variant LIRI-JP 7 43478528 43478528 single base substitution T C downstream_gene_variant LIRI-JP 7 43478528 43478528 single base substitution T C exon_variant LIRI-JP 7 43478528 43478528 single base substitution T C intron_variant LIRI-JP 7 43478636 43478636 single base substitution A C downstream_gene_variant LIRI-JP 7 43478636 43478636 single base substitution A C exon_variant LIRI-JP 7 43478636 43478636 single base substitution A C intron_variant LIRI-JP 7 43480661 43480661 single base substitution G A downstream_gene_variant LIRI-JP 7 43480661 43480661 single base substitution G A intron_variant LIRI-JP 7 43482409 43482409 single base substitution A G downstream_gene_variant LIRI-JP 7 43482409 43482409 single base substitution A G intron_variant LIRI-JP 7 43483137 43483137 insertion of <=200bp - G downstream_gene_variant LIRI-JP 7 43483137 43483137 insertion of <=200bp - G intron_variant LIRI-JP 7 43484050 43484050 single base substitution G A downstream_gene_variant LIRI-JP 7 43484050 43484050 single base substitution G A missense_variant D427N 1279G>A LIRI-JP 7 43485067 43485067 single base substitution G T downstream_gene_variant LIRI-JP 7 43485067 43485067 single base substitution G T missense_variant A766S 2296G>T LIRI-JP 7 43485724 43485724 insertion of <=200bp - TCAA intron_variant LIRI-JP 7 43488176 43488176 single base substitution C T intron_variant LIRI-JP 7 43489397 43489397 single base substitution G A intron_variant LIRI-JP 7 43490814 43490814 single base substitution C A intron_variant LIRI-JP 7 43494806 43494806 single base substitution A G intron_variant LIRI-JP 7 43496568 43496568 single base substitution C T intron_variant LIRI-JP 7 43496639 43496639 single base substitution G A intron_variant LIRI-JP 7 43496776 43496776 single base substitution A T intron_variant LIRI-JP 7 43497389 43497389 single base substitution A T intron_variant LIRI-JP 7 43497973 43497973 single base substitution C A intron_variant LIRI-JP 7 43500515 43500515 single base substitution G C intron_variant LIRI-JP 7 43501256 43501256 single base substitution T C intron_variant LIRI-JP 7 43504245 43504245 single base substitution T A intron_variant LIRI-JP 7 43504617 43504617 single base substitution T C intron_variant LIRI-JP 7 43505925 43505925 single base substitution T C intron_variant LIRI-JP 7 43506982 43506982 single base substitution G C intron_variant LIRI-JP 7 43507826 43507826 single base substitution C T intron_variant LIRI-JP 7 43509124 43509124 single base substitution T C intron_variant LIRI-JP 7 43509941 43509941 single base substitution T C intron_variant LIRI-JP 7 43510607 43510607 single base substitution T C intron_variant LIRI-JP 7 43513352 43513352 single base substitution A T intron_variant LIRI-JP 7 43515067 43515067 single base substitution A G intron_variant LIRI-JP 7 43515067 43515067 single base substitution A G upstream_gene_variant LIRI-JP 7 43517542 43517542 single base substitution C T intron_variant LIRI-JP 7 43517542 43517542 single base substitution C T upstream_gene_variant LIRI-JP 7 43518720 43518720 single base substitution T C intron_variant LIRI-JP 7 43518720 43518720 single base substitution T C upstream_gene_variant LIRI-JP 7 43518780 43518780 single base substitution T C intron_variant LIRI-JP 7 43518780 43518780 single base substitution T C upstream_gene_variant LIRI-JP 7 43519324 43519324 single base substitution G A exon_variant LIRI-JP 7 43519324 43519324 single base substitution G A missense_variant R1038Q 3113G>A LIRI-JP 7 43519324 43519324 single base substitution G A missense_variant R1072Q 3215G>A LIRI-JP 7 43519324 43519324 single base substitution G A missense_variant R24Q 71G>A LIRI-JP 7 43520518 43520518 single base substitution A T intron_variant LIRI-JP 7 43521394 43521394 single base substitution T C intron_variant LIRI-JP 7 43523007 43523007 single base substitution C T intron_variant LIRI-JP 7 43524259 43524259 single base substitution A T downstream_gene_variant LIRI-JP 7 43524259 43524259 single base substitution A T intron_variant LIRI-JP 7 43525110 43525110 single base substitution C T downstream_gene_variant LIRI-JP 7 43525110 43525110 single base substitution C T intron_variant LIRI-JP 7 43527457 43527457 single base substitution C T downstream_gene_variant LIRI-JP 7 43527457 43527457 single base substitution C T intron_variant LIRI-JP 7 43530283 43530283 single base substitution T C intron_variant LIRI-JP 7 43530792 43530792 single base substitution C T intron_variant LIRI-JP 7 43535517 43535517 single base substitution T C intron_variant LIRI-JP 7 43536653 43536653 single base substitution G A intron_variant LIRI-JP 7 43537943 43537943 single base substitution G T intron_variant LIRI-JP 7 43538054 43538054 single base substitution A G intron_variant LIRI-JP 7 43538194 43538194 single base substitution G A intron_variant LIRI-JP 7 43541253 43541253 single base substitution C T intron_variant LIRI-JP 7 43541783 43541783 single base substitution T C intron_variant LIRI-JP 7 43543210 43543210 deletion of <=200bp C - intron_variant LIRI-JP 7 43546032 43546032 single base substitution G A intron_variant LIRI-JP 7 43547188 43547188 single base substitution A G intron_variant LIRI-JP 7 43548034 43548034 single base substitution T C intron_variant LIRI-JP 7 43552427 43552427 single base substitution A G intron_variant LIRI-JP 7 43554748 43554748 single base substitution G A intron_variant LIRI-JP 7 43554996 43554996 deletion of <=200bp G - intron_variant LIRI-JP 7 43556073 43556073 single base substitution G T intron_variant LIRI-JP 7 43556588 43556588 single base substitution G A intron_variant LIRI-JP 7 43556606 43556606 single base substitution C T intron_variant LIRI-JP 7 43557655 43557655 single base substitution A C intron_variant LIRI-JP 7 43558056 43558056 single base substitution C A intron_variant LIRI-JP 7 43558142 43558142 single base substitution A T intron_variant LIRI-JP 7 43558237 43558237 single base substitution A T intron_variant LIRI-JP 7 43558667 43558667 single base substitution T C intron_variant LIRI-JP 7 43559614 43559614 single base substitution C A intron_variant LIRI-JP 7 43560682 43560682 single base substitution C T intron_variant LIRI-JP 7 43562016 43562016 single base substitution A T intron_variant LIRI-JP 7 43563224 43563224 single base substitution G C intron_variant LIRI-JP 7 43563795 43563795 single base substitution C T intron_variant LIRI-JP 7 43563896 43563896 single base substitution G A intron_variant LIRI-JP 7 43565926 43565926 single base substitution A G intron_variant LIRI-JP 7 43567242 43567242 single base substitution A C intron_variant LIRI-JP 7 43567570 43567570 single base substitution T G intron_variant LIRI-JP 7 43567882 43567882 single base substitution C T intron_variant LIRI-JP 7 43570142 43570142 single base substitution A G intron_variant LIRI-JP 7 43574000 43574000 single base substitution A G intron_variant LIRI-JP 7 43575205 43575205 single base substitution A G intron_variant LIRI-JP 7 43575938 43575938 single base substitution A C intron_variant LIRI-JP 7 43576001 43576001 single base substitution C T intron_variant LIRI-JP 7 43576876 43576876 single base substitution T C intron_variant LIRI-JP 7 43577511 43577511 single base substitution T G intron_variant LIRI-JP 7 43580223 43580223 single base substitution A T intron_variant LIRI-JP 7 43580720 43580720 single base substitution A G intron_variant LIRI-JP 7 43582684 43582684 single base substitution C T downstream_gene_variant LIRI-JP 7 43582684 43582684 single base substitution C T intron_variant LIRI-JP 7 43584571 43584571 single base substitution A G downstream_gene_variant LIRI-JP 7 43584571 43584571 single base substitution A G intron_variant LIRI-JP 7 43584760 43584760 insertion of <=200bp - GAA downstream_gene_variant LIRI-JP 7 43584760 43584760 insertion of <=200bp - GAA intron_variant LIRI-JP 7 43585737 43585737 single base substitution T C downstream_gene_variant LIRI-JP 7 43585737 43585737 single base substitution T C intron_variant LIRI-JP 7 43586803 43586803 single base substitution G T intron_variant LIRI-JP 7 43588514 43588514 single base substitution G T intron_variant LIRI-JP 7 43591663 43591663 single base substitution G C intron_variant LIRI-JP 7 43592968 43592968 single base substitution G T intron_variant LIRI-JP 7 43594284 43594284 single base substitution C T missense_variant T1501M 4502C>T LIRI-JP 7 43594284 43594284 single base substitution C T missense_variant T1535M 4604C>T LIRI-JP 7 43596666 43596666 single base substitution A G intron_variant LIRI-JP 7 43597322 43597322 single base substitution C T intron_variant LIRI-JP 7 43597824 43597824 single base substitution C T intron_variant LIRI-JP 7 43600449 43600449 single base substitution C G intron_variant LIRI-JP 7 43600730 43600730 single base substitution T C intron_variant LIRI-JP 7 43602065 43602065 single base substitution G T 3_prime_UTR_variant LIRI-JP 7 43602065 43602065 single base substitution G T downstream_gene_variant LIRI-JP 7 43603331 43603331 single base substitution G T 3_prime_UTR_variant LIRI-JP 7 43603331 43603331 single base substitution G T downstream_gene_variant LIRI-JP 7 43603336 43603336 single base substitution C T 3_prime_UTR_variant LIRI-JP 7 43603336 43603336 single base substitution C T downstream_gene_variant LIRI-JP 7 43604017 43604017 single base substitution T C 3_prime_UTR_variant LIRI-JP 7 43604017 43604017 single base substitution T C downstream_gene_variant LIRI-JP 7 43604355 43604355 single base substitution A G 3_prime_UTR_variant LIRI-JP 7 43604355 43604355 single base substitution A G downstream_gene_variant LIRI-JP 7 43608345 43608345 single base substitution G C downstream_gene_variant LUSC-KR 7 43149643 43149643 single base substitution G A upstream_gene_variant LUSC-KR 7 43151036 43151036 single base substitution G T upstream_gene_variant LUSC-KR 7 43151054 43151054 single base substitution A T upstream_gene_variant LUSC-KR 7 43151662 43151662 single base substitution G C upstream_gene_variant LUSC-KR 7 43152739 43152739 single base substitution C A intron_variant LUSC-KR 7 43152739 43152739 single base substitution C A upstream_gene_variant LUSC-KR 7 43154628 43154628 single base substitution A C intron_variant LUSC-KR 7 43155083 43155083 single base substitution A T intron_variant LUSC-KR 7 43155294 43155294 single base substitution G C intron_variant LUSC-KR 7 43158722 43158722 single base substitution C A intron_variant LUSC-KR 7 43159475 43159475 single base substitution C T intron_variant LUSC-KR 7 43163745 43163745 single base substitution C T intron_variant LUSC-KR 7 43163765 43163765 single base substitution A T intron_variant LUSC-KR 7 43164097 43164097 single base substitution C A intron_variant LUSC-KR 7 43165545 43165545 single base substitution G T intron_variant LUSC-KR 7 43166704 43166704 single base substitution C T intron_variant LUSC-KR 7 43166905 43166905 single base substitution C A intron_variant LUSC-KR 7 43168583 43168583 single base substitution G C intron_variant LUSC-KR 7 43169105 43169105 single base substitution C A intron_variant LUSC-KR 7 43169128 43169128 single base substitution A G intron_variant LUSC-KR 7 43169442 43169442 single base substitution T A intron_variant LUSC-KR 7 43171411 43171411 single base substitution T G intron_variant LUSC-KR 7 43175625 43175625 single base substitution A G intron_variant LUSC-KR 7 43176200 43176200 single base substitution G C intron_variant LUSC-KR 7 43181545 43181545 single base substitution A C intron_variant LUSC-KR 7 43182099 43182099 single base substitution C T intron_variant LUSC-KR 7 43182428 43182428 single base substitution T A intron_variant LUSC-KR 7 43182568 43182568 single base substitution G T intron_variant LUSC-KR 7 43183269 43183269 single base substitution G T intron_variant LUSC-KR 7 43184998 43184998 single base substitution G T intron_variant LUSC-KR 7 43186506 43186506 single base substitution G T intron_variant LUSC-KR 7 43186592 43186592 single base substitution G T intron_variant LUSC-KR 7 43189767 43189767 single base substitution T G intron_variant LUSC-KR 7 43190547 43190547 single base substitution T A intron_variant LUSC-KR 7 43195331 43195331 single base substitution A T intron_variant LUSC-KR 7 43197128 43197128 single base substitution G T intron_variant LUSC-KR 7 43198243 43198243 single base substitution C T intron_variant LUSC-KR 7 43200235 43200235 single base substitution T G intron_variant LUSC-KR 7 43200971 43200971 single base substitution T C intron_variant LUSC-KR 7 43206865 43206865 single base substitution G A intron_variant LUSC-KR 7 43210311 43210311 single base substitution G C intron_variant LUSC-KR 7 43211324 43211324 single base substitution C A intron_variant LUSC-KR 7 43211753 43211753 single base substitution T G intron_variant LUSC-KR 7 43212857 43212857 single base substitution G A intron_variant LUSC-KR 7 43215233 43215233 single base substitution G T intron_variant LUSC-KR 7 43216223 43216223 single base substitution C T intron_variant LUSC-KR 7 43216469 43216469 single base substitution A T intron_variant LUSC-KR 7 43217476 43217476 single base substitution G A intron_variant LUSC-KR 7 43220073 43220073 single base substitution C A intron_variant LUSC-KR 7 43220089 43220089 single base substitution G T intron_variant LUSC-KR 7 43220871 43220871 single base substitution G T intron_variant LUSC-KR 7 43221752 43221752 single base substitution T C intron_variant LUSC-KR 7 43221984 43221984 single base substitution C T intron_variant LUSC-KR 7 43222297 43222297 single base substitution G T intron_variant LUSC-KR 7 43222577 43222577 single base substitution G C intron_variant LUSC-KR 7 43223087 43223087 single base substitution T A intron_variant LUSC-KR 7 43223244 43223244 single base substitution C A intron_variant LUSC-KR 7 43224865 43224865 single base substitution G T intron_variant LUSC-KR 7 43226609 43226609 single base substitution G T intron_variant LUSC-KR 7 43229360 43229360 single base substitution C G intron_variant LUSC-KR 7 43229451 43229451 single base substitution C A intron_variant LUSC-KR 7 43229869 43229869 single base substitution C T intron_variant LUSC-KR 7 43231719 43231719 single base substitution C A intron_variant LUSC-KR 7 43232982 43232982 single base substitution G T intron_variant LUSC-KR 7 43233201 43233201 single base substitution G C intron_variant LUSC-KR 7 43237634 43237634 single base substitution C A intron_variant LUSC-KR 7 43241146 43241146 single base substitution G A intron_variant LUSC-KR 7 43241545 43241545 single base substitution T C intron_variant LUSC-KR 7 43242237 43242237 single base substitution T A intron_variant LUSC-KR 7 43245592 43245592 single base substitution C T intron_variant LUSC-KR 7 43247194 43247194 single base substitution T G intron_variant LUSC-KR 7 43247740 43247740 single base substitution T C intron_variant LUSC-KR 7 43250216 43250216 single base substitution G C intron_variant LUSC-KR 7 43251316 43251316 single base substitution C T intron_variant LUSC-KR 7 43251653 43251653 single base substitution C T intron_variant LUSC-KR 7 43253579 43253579 single base substitution G T intron_variant LUSC-KR 7 43255946 43255946 single base substitution T C intron_variant LUSC-KR 7 43257433 43257433 single base substitution C G intron_variant LUSC-KR 7 43259191 43259191 single base substitution C G intron_variant LUSC-KR 7 43259670 43259670 single base substitution C T intron_variant LUSC-KR 7 43261802 43261802 single base substitution G T intron_variant LUSC-KR 7 43264506 43264506 single base substitution G A intron_variant LUSC-KR 7 43269269 43269269 single base substitution G A intron_variant LUSC-KR 7 43270973 43270973 single base substitution C T intron_variant LUSC-KR 7 43272843 43272843 single base substitution C A intron_variant LUSC-KR 7 43273727 43273727 single base substitution G T intron_variant LUSC-KR 7 43273739 43273739 single base substitution T A intron_variant LUSC-KR 7 43275232 43275232 single base substitution A T intron_variant LUSC-KR 7 43276049 43276049 single base substitution T A intron_variant LUSC-KR 7 43276946 43276946 single base substitution C T intron_variant LUSC-KR 7 43284769 43284769 single base substitution T A intron_variant LUSC-KR 7 43284769 43284769 single base substitution T A upstream_gene_variant LUSC-KR 7 43288524 43288524 single base substitution C T intron_variant LUSC-KR 7 43288524 43288524 single base substitution C T upstream_gene_variant LUSC-KR 7 43291412 43291412 single base substitution C T intron_variant LUSC-KR 7 43296988 43296988 single base substitution G T intron_variant LUSC-KR 7 43297867 43297867 single base substitution G A intron_variant LUSC-KR 7 43298099 43298099 single base substitution C G intron_variant LUSC-KR 7 43299362 43299362 single base substitution C T downstream_gene_variant LUSC-KR 7 43299362 43299362 single base substitution C T intron_variant LUSC-KR 7 43300156 43300156 single base substitution G C downstream_gene_variant LUSC-KR 7 43300156 43300156 single base substitution G C intron_variant LUSC-KR 7 43301119 43301119 single base substitution T G downstream_gene_variant LUSC-KR 7 43301119 43301119 single base substitution T G intron_variant LUSC-KR 7 43305804 43305804 single base substitution C A intron_variant LUSC-KR 7 43306923 43306923 single base substitution A G intron_variant LUSC-KR 7 43310798 43310798 single base substitution G C intron_variant LUSC-KR 7 43310899 43310899 single base substitution G C intron_variant LUSC-KR 7 43313001 43313001 single base substitution T C intron_variant LUSC-KR 7 43315316 43315316 single base substitution C A intron_variant LUSC-KR 7 43323677 43323677 single base substitution G T intron_variant LUSC-KR 7 43324101 43324101 single base substitution C A intron_variant LUSC-KR 7 43324798 43324798 single base substitution T A intron_variant LUSC-KR 7 43325560 43325560 single base substitution G C intron_variant LUSC-KR 7 43328153 43328153 single base substitution C A intron_variant LUSC-KR 7 43331036 43331036 single base substitution G A intron_variant LUSC-KR 7 43331117 43331117 single base substitution C A intron_variant LUSC-KR 7 43332676 43332676 single base substitution G A intron_variant LUSC-KR 7 43333055 43333055 single base substitution A T intron_variant LUSC-KR 7 43335254 43335254 single base substitution G T intron_variant LUSC-KR 7 43335627 43335627 single base substitution T A intron_variant LUSC-KR 7 43344128 43344128 single base substitution C T intron_variant LUSC-KR 7 43344556 43344556 single base substitution A G intron_variant LUSC-KR 7 43351575 43351575 single base substitution C G exon_variant LUSC-KR 7 43351575 43351575 single base substitution C G missense_variant L81V 241C>G LUSC-KR 7 43353533 43353533 single base substitution A G downstream_gene_variant LUSC-KR 7 43353533 43353533 single base substitution A G intron_variant LUSC-KR 7 43353653 43353653 single base substitution T G downstream_gene_variant LUSC-KR 7 43353653 43353653 single base substitution T G intron_variant LUSC-KR 7 43353906 43353906 single base substitution G A downstream_gene_variant LUSC-KR 7 43353906 43353906 single base substitution G A intron_variant LUSC-KR 7 43355825 43355825 single base substitution G A downstream_gene_variant LUSC-KR 7 43355825 43355825 single base substitution G A intron_variant LUSC-KR 7 43356837 43356837 single base substitution G T intron_variant LUSC-KR 7 43359697 43359697 single base substitution C A intron_variant LUSC-KR 7 43359709 43359709 single base substitution G A intron_variant LUSC-KR 7 43361144 43361144 single base substitution C T intron_variant LUSC-KR 7 43361595 43361595 single base substitution G T intron_variant LUSC-KR 7 43364328 43364328 single base substitution T C intron_variant LUSC-KR 7 43366049 43366049 single base substitution G A intron_variant LUSC-KR 7 43372045 43372045 single base substitution G T intron_variant LUSC-KR 7 43373591 43373591 single base substitution A T intron_variant LUSC-KR 7 43375753 43375753 single base substitution C T intron_variant LUSC-KR 7 43375769 43375769 single base substitution C T intron_variant LUSC-KR 7 43380575 43380575 single base substitution G C intron_variant LUSC-KR 7 43381107 43381107 single base substitution T A intron_variant LUSC-KR 7 43390837 43390837 single base substitution A G intron_variant LUSC-KR 7 43391025 43391025 single base substitution C G intron_variant LUSC-KR 7 43391439 43391439 single base substitution T C intron_variant LUSC-KR 7 43392602 43392602 single base substitution A C intron_variant LUSC-KR 7 43395496 43395496 single base substitution G T intron_variant LUSC-KR 7 43396651 43396651 single base substitution C A intron_variant LUSC-KR 7 43398104 43398104 single base substitution C T intron_variant LUSC-KR 7 43398614 43398614 single base substitution G C intron_variant LUSC-KR 7 43403824 43403824 single base substitution A T intron_variant LUSC-KR 7 43404251 43404251 single base substitution G T intron_variant LUSC-KR 7 43406686 43406686 single base substitution A G intron_variant LUSC-KR 7 43412450 43412450 single base substitution G C intron_variant LUSC-KR 7 43412450 43412450 single base substitution G C upstream_gene_variant LUSC-KR 7 43413052 43413052 single base substitution C A intron_variant LUSC-KR 7 43413052 43413052 single base substitution C A upstream_gene_variant LUSC-KR 7 43413399 43413399 single base substitution C A intron_variant LUSC-KR 7 43413399 43413399 single base substitution C A upstream_gene_variant LUSC-KR 7 43415876 43415876 single base substitution C A intron_variant LUSC-KR 7 43415876 43415876 single base substitution C A upstream_gene_variant LUSC-KR 7 43416669 43416669 single base substitution G C intron_variant LUSC-KR 7 43416669 43416669 single base substitution G C upstream_gene_variant LUSC-KR 7 43420427 43420427 single base substitution C G intron_variant LUSC-KR 7 43421755 43421755 single base substitution G T intron_variant LUSC-KR 7 43423589 43423589 single base substitution T C intron_variant LUSC-KR 7 43424858 43424858 single base substitution C T intron_variant LUSC-KR 7 43425206 43425206 single base substitution C A intron_variant LUSC-KR 7 43427733 43427733 single base substitution G T intron_variant LUSC-KR 7 43428647 43428647 single base substitution G A intron_variant LUSC-KR 7 43429500 43429500 single base substitution G T intron_variant LUSC-KR 7 43432295 43432295 single base substitution G A intron_variant LUSC-KR 7 43432295 43432295 single base substitution G A upstream_gene_variant LUSC-KR 7 43437869 43437869 single base substitution T C intron_variant LUSC-KR 7 43438314 43438314 single base substitution G A intron_variant LUSC-KR 7 43440189 43440189 single base substitution C T intron_variant LUSC-KR 7 43441916 43441916 single base substitution G A intron_variant LUSC-KR 7 43445259 43445259 single base substitution C T intron_variant LUSC-KR 7 43445453 43445453 single base substitution C A intron_variant LUSC-KR 7 43445454 43445454 single base substitution C A intron_variant LUSC-KR 7 43445626 43445626 single base substitution C T intron_variant LUSC-KR 7 43448024 43448024 single base substitution G A downstream_gene_variant LUSC-KR 7 43448024 43448024 single base substitution G A intron_variant LUSC-KR 7 43451555 43451555 single base substitution G T downstream_gene_variant LUSC-KR 7 43451555 43451555 single base substitution G T intron_variant LUSC-KR 7 43452304 43452304 single base substitution T A downstream_gene_variant LUSC-KR 7 43452304 43452304 single base substitution T A intron_variant LUSC-KR 7 43452640 43452640 single base substitution A G intron_variant LUSC-KR 7 43453991 43453991 single base substitution C A intron_variant LUSC-KR 7 43454075 43454075 single base substitution G C intron_variant LUSC-KR 7 43454195 43454195 single base substitution C A intron_variant LUSC-KR 7 43454724 43454724 single base substitution G A intron_variant LUSC-KR 7 43454762 43454762 single base substitution G A intron_variant LUSC-KR 7 43454949 43454949 single base substitution A G intron_variant LUSC-KR 7 43455033 43455033 single base substitution C A intron_variant LUSC-KR 7 43459653 43459653 single base substitution G T intron_variant LUSC-KR 7 43460939 43460939 single base substitution C T intron_variant LUSC-KR 7 43465112 43465112 single base substitution G C intron_variant LUSC-KR 7 43471708 43471708 single base substitution T G intron_variant LUSC-KR 7 43472326 43472326 single base substitution C T intron_variant LUSC-KR 7 43477627 43477627 single base substitution C A exon_variant LUSC-KR 7 43477627 43477627 single base substitution C A missense_variant T276N 827C>A LUSC-KR 7 43479330 43479330 single base substitution T C downstream_gene_variant LUSC-KR 7 43479330 43479330 single base substitution T C exon_variant LUSC-KR 7 43479330 43479330 single base substitution T C intron_variant LUSC-KR 7 43479716 43479716 single base substitution G T downstream_gene_variant LUSC-KR 7 43479716 43479716 single base substitution G T exon_variant LUSC-KR 7 43479716 43479716 single base substitution G T intron_variant LUSC-KR 7 43480632 43480632 single base substitution G A downstream_gene_variant LUSC-KR 7 43480632 43480632 single base substitution G A intron_variant LUSC-KR 7 43481336 43481336 single base substitution T G downstream_gene_variant LUSC-KR 7 43481336 43481336 single base substitution T G intron_variant LUSC-KR 7 43486128 43486128 single base substitution G A intron_variant LUSC-KR 7 43490203 43490203 single base substitution G T intron_variant LUSC-KR 7 43490207 43490207 single base substitution C T intron_variant LUSC-KR 7 43491461 43491461 single base substitution G A intron_variant LUSC-KR 7 43492842 43492842 single base substitution C T intron_variant LUSC-KR 7 43494221 43494221 single base substitution G A intron_variant LUSC-KR 7 43495486 43495486 single base substitution G A intron_variant LUSC-KR 7 43496342 43496342 single base substitution G C intron_variant LUSC-KR 7 43498875 43498875 single base substitution C A intron_variant LUSC-KR 7 43501400 43501400 single base substitution G A intron_variant LUSC-KR 7 43502215 43502215 single base substitution G C intron_variant LUSC-KR 7 43503248 43503248 single base substitution C G intron_variant LUSC-KR 7 43505112 43505112 single base substitution G T intron_variant LUSC-KR 7 43505480 43505480 single base substitution G T intron_variant LUSC-KR 7 43505499 43505499 single base substitution G C intron_variant LUSC-KR 7 43506161 43506161 single base substitution C T synonymous_variant A935A 2805C>T LUSC-KR 7 43506161 43506161 single base substitution C T synonymous_variant A969A 2907C>T LUSC-KR 7 43511072 43511072 single base substitution T C intron_variant LUSC-KR 7 43514935 43514935 single base substitution C A intron_variant LUSC-KR 7 43514935 43514935 single base substitution C A upstream_gene_variant LUSC-KR 7 43517768 43517768 single base substitution C G intron_variant LUSC-KR 7 43517768 43517768 single base substitution C G upstream_gene_variant LUSC-KR 7 43520033 43520033 single base substitution G C intron_variant LUSC-KR 7 43520297 43520297 single base substitution C T intron_variant LUSC-KR 7 43522286 43522286 single base substitution C T intron_variant LUSC-KR 7 43527815 43527815 single base substitution A T downstream_gene_variant LUSC-KR 7 43527815 43527815 single base substitution A T intron_variant LUSC-KR 7 43528002 43528002 single base substitution T A downstream_gene_variant LUSC-KR 7 43528002 43528002 single base substitution T A intron_variant LUSC-KR 7 43528017 43528017 single base substitution G A downstream_gene_variant LUSC-KR 7 43528017 43528017 single base substitution G A intron_variant LUSC-KR 7 43528107 43528107 single base substitution A G downstream_gene_variant LUSC-KR 7 43528107 43528107 single base substitution A G intron_variant LUSC-KR 7 43536011 43536011 single base substitution G A intron_variant LUSC-KR 7 43536388 43536388 single base substitution C A intron_variant LUSC-KR 7 43540264 43540264 single base substitution A G intron_variant LUSC-KR 7 43540803 43540803 single base substitution C T intron_variant LUSC-KR 7 43541093 43541093 single base substitution G C intron_variant LUSC-KR 7 43541452 43541452 single base substitution A G intron_variant LUSC-KR 7 43543782 43543782 single base substitution C T intron_variant LUSC-KR 7 43545371 43545371 single base substitution G T intron_variant LUSC-KR 7 43546604 43546604 single base substitution A G intron_variant LUSC-KR 7 43548408 43548408 single base substitution C A intron_variant LUSC-KR 7 43548857 43548857 single base substitution T C intron_variant LUSC-KR 7 43549566 43549566 single base substitution A G intron_variant LUSC-KR 7 43551777 43551777 single base substitution G A intron_variant LUSC-KR 7 43556309 43556309 single base substitution T C intron_variant LUSC-KR 7 43564486 43564486 single base substitution G T intron_variant LUSC-KR 7 43564669 43564669 single base substitution A G intron_variant LUSC-KR 7 43567871 43567871 single base substitution A G intron_variant LUSC-KR 7 43568637 43568637 single base substitution C T intron_variant LUSC-KR 7 43568655 43568655 single base substitution G T intron_variant LUSC-KR 7 43568667 43568667 single base substitution A T intron_variant LUSC-KR 7 43572840 43572840 single base substitution A G intron_variant LUSC-KR 7 43572934 43572934 single base substitution G C intron_variant LUSC-KR 7 43576748 43576748 single base substitution G C intron_variant LUSC-KR 7 43581304 43581304 single base substitution G A intron_variant LUSC-KR 7 43581318 43581318 single base substitution G A intron_variant LUSC-KR 7 43585371 43585371 single base substitution A G downstream_gene_variant LUSC-KR 7 43585371 43585371 single base substitution A G intron_variant LUSC-KR 7 43585949 43585949 single base substitution T G downstream_gene_variant LUSC-KR 7 43585949 43585949 single base substitution T G intron_variant LUSC-KR 7 43587520 43587520 single base substitution G C intron_variant LUSC-KR 7 43588836 43588836 single base substitution G T intron_variant LUSC-KR 7 43589427 43589427 single base substitution C T intron_variant LUSC-KR 7 43590160 43590160 single base substitution G A synonymous_variant Q1421Q 4263G>A LUSC-KR 7 43590160 43590160 single base substitution G A synonymous_variant Q1455Q 4365G>A LUSC-KR 7 43591955 43591955 single base substitution A G intron_variant LUSC-KR 7 43593673 43593673 single base substitution G T intron_variant LUSC-KR 7 43594087 43594087 single base substitution G A intron_variant LUSC-KR 7 43594471 43594471 single base substitution C T intron_variant LUSC-KR 7 43596680 43596680 single base substitution A C intron_variant LUSC-KR 7 43602613 43602613 single base substitution T G 3_prime_UTR_variant LUSC-KR 7 43602613 43602613 single base substitution T G downstream_gene_variant LUSC-KR 7 43605151 43605151 single base substitution T C 3_prime_UTR_variant LUSC-KR 7 43605151 43605151 single base substitution T C downstream_gene_variant LUSC-KR 7 43607445 43607445 single base substitution G A downstream_gene_variant LUSC-KR 7 43607537 43607537 single base substitution C A downstream_gene_variant LUSC-US 7 43283525 43283525 single base substitution T A intron_variant LUSC-US 7 43283525 43283525 single base substitution T A missense_variant S7R 21T>A LUSC-US 7 43283525 43283525 single base substitution T A upstream_gene_variant LUSC-US 7 43351583 43351583 single base substitution C A exon_variant LUSC-US 7 43351583 43351583 single base substitution C A synonymous_variant V83V 249C>A LUSC-US 7 43400557 43400557 single base substitution C A exon_variant LUSC-US 7 43400557 43400557 single base substitution C A missense_variant T178K 533C>A LUSC-US 7 43436457 43436457 single base substitution A G exon_variant LUSC-US 7 43436457 43436457 single base substitution A G synonymous_variant G200G 600A>G LUSC-US 7 43483903 43483903 deletion of <=200bp G - downstream_gene_variant LUSC-US 7 43483903 43483903 deletion of <=200bp G - frameshift_variant G378 LUSC-US 7 43484125 43484125 single base substitution G T downstream_gene_variant LUSC-US 7 43484125 43484125 single base substitution G T missense_variant A452S 1354G>T LUSC-US 7 43484216 43484216 single base substitution C A downstream_gene_variant LUSC-US 7 43484216 43484216 single base substitution C A missense_variant T482N 1445C>A LUSC-US 7 43484409 43484409 single base substitution C A downstream_gene_variant LUSC-US 7 43484409 43484409 single base substitution C A synonymous_variant I546I 1638C>A LUSC-US 7 43484785 43484785 single base substitution G T downstream_gene_variant LUSC-US 7 43484785 43484785 single base substitution G T missense_variant G672C 2014G>T LUSC-US 7 43484986 43484986 single base substitution G T downstream_gene_variant LUSC-US 7 43484986 43484986 single base substitution G T stop_gained E739* 2215G>T LUSC-US 7 43485045 43485045 single base substitution G A downstream_gene_variant LUSC-US 7 43485045 43485045 single base substitution G A synonymous_variant L758L 2274G>A LUSC-US 7 43485093 43485093 single base substitution C A downstream_gene_variant LUSC-US 7 43485093 43485093 single base substitution C A synonymous_variant A774A 2322C>A LUSC-US 7 43496007 43496007 single base substitution G C missense_variant R837T 2510G>C LUSC-US 7 43496007 43496007 single base substitution G C missense_variant R871T 2612G>C LUSC-US 7 43506060 43506060 single base substitution G A missense_variant G902R 2704G>A LUSC-US 7 43506060 43506060 single base substitution G A missense_variant G936R 2806G>A LUSC-US 7 43506110 43506110 single base substitution C T synonymous_variant S918S 2754C>T LUSC-US 7 43506110 43506110 single base substitution C T synonymous_variant S952S 2856C>T LUSC-US 7 43506139 43506139 single base substitution A C missense_variant E928A 2783A>C LUSC-US 7 43506139 43506139 single base substitution A C missense_variant E962A 2885A>C LUSC-US 7 43519310 43519310 single base substitution C G exon_variant LUSC-US 7 43519310 43519310 single base substitution C G missense_variant H1033Q 3099C>G LUSC-US 7 43519310 43519310 single base substitution C G missense_variant H1067Q 3201C>G LUSC-US 7 43519310 43519310 single base substitution C G missense_variant H19Q 57C>G LUSC-US 7 43546832 43546832 single base substitution T A intron_variant LUSC-US 7 43546832 43546832 single base substitution T A missense_variant F1209Y 3626T>A LUSC-US 7 43546832 43546832 single base substitution T A missense_variant F1243Y 3728T>A LUSC-US 7 43547726 43547726 single base substitution G T intron_variant LUSC-US 7 43547726 43547726 single base substitution G T stop_gained E1254* 3760G>T LUSC-US 7 43547726 43547726 single base substitution G T stop_gained E1288* 3862G>T LUSC-US 7 43594213 43594213 single base substitution G A synonymous_variant V1477V 4431G>A LUSC-US 7 43594213 43594213 single base substitution G A synonymous_variant V1511V 4533G>A LUSC-US 7 43594272 43594272 single base substitution T A missense_variant L1497Q 4490T>A LUSC-US 7 43594272 43594272 single base substitution T A missense_variant L1531Q 4592T>A MALY-DE 7 43148447 43148447 single base substitution T G upstream_gene_variant MALY-DE 7 43152953 43152953 single base substitution T C intron_variant MALY-DE 7 43152953 43152953 single base substitution T C upstream_gene_variant MALY-DE 7 43154627 43154627 single base substitution A G intron_variant MALY-DE 7 43161552 43161552 single base substitution G A intron_variant MALY-DE 7 43161692 43161692 single base substitution A C intron_variant MALY-DE 7 43167483 43167483 deletion of <=200bp T - intron_variant MALY-DE 7 43175043 43175043 single base substitution A G intron_variant MALY-DE 7 43178760 43178760 single base substitution G T intron_variant MALY-DE 7 43183327 43183327 single base substitution G A intron_variant MALY-DE 7 43190454 43190454 single base substitution C T intron_variant MALY-DE 7 43194910 43194910 single base substitution A G intron_variant MALY-DE 7 43197263 43197263 single base substitution G T intron_variant MALY-DE 7 43198818 43198818 single base substitution A G intron_variant MALY-DE 7 43199122 43199122 single base substitution A C intron_variant MALY-DE 7 43210761 43210761 single base substitution A C intron_variant MALY-DE 7 43215945 43215945 single base substitution T C intron_variant MALY-DE 7 43216306 43216306 single base substitution A G intron_variant MALY-DE 7 43220341 43220341 single base substitution G C intron_variant MALY-DE 7 43223622 43223622 single base substitution T A intron_variant MALY-DE 7 43223847 43223847 single base substitution C T intron_variant MALY-DE 7 43229194 43229194 insertion of <=200bp - A intron_variant MALY-DE 7 43230347 43230347 single base substitution T C intron_variant MALY-DE 7 43230705 43230705 single base substitution G A intron_variant MALY-DE 7 43231093 43231093 single base substitution G C intron_variant MALY-DE 7 43231473 43231473 single base substitution A C intron_variant MALY-DE 7 43231859 43231859 single base substitution G C intron_variant MALY-DE 7 43232827 43232827 single base substitution G A intron_variant MALY-DE 7 43233216 43233216 single base substitution A G intron_variant MALY-DE 7 43238417 43238417 single base substitution G A intron_variant MALY-DE 7 43240883 43240883 single base substitution T G intron_variant MALY-DE 7 43243913 43243913 single base substitution C T intron_variant MALY-DE 7 43244877 43244877 single base substitution T A intron_variant MALY-DE 7 43245072 43245072 single base substitution C A intron_variant MALY-DE 7 43246467 43246467 single base substitution G A intron_variant MALY-DE 7 43246739 43246739 single base substitution G A intron_variant MALY-DE 7 43251245 43251245 single base substitution T C intron_variant MALY-DE 7 43261283 43261283 single base substitution G A intron_variant MALY-DE 7 43261533 43261533 single base substitution G A intron_variant MALY-DE 7 43264344 43264344 single base substitution G A intron_variant MALY-DE 7 43264530 43264530 single base substitution G A intron_variant MALY-DE 7 43264943 43264943 single base substitution G A intron_variant MALY-DE 7 43269943 43269943 single base substitution A G intron_variant MALY-DE 7 43270485 43270485 insertion of <=200bp - A intron_variant MALY-DE 7 43271461 43271461 deletion of <=200bp A - intron_variant MALY-DE 7 43273422 43273422 single base substitution A C intron_variant MALY-DE 7 43273766 43273766 single base substitution T C intron_variant MALY-DE 7 43280533 43280533 single base substitution G A intron_variant MALY-DE 7 43280723 43280723 single base substitution G C intron_variant MALY-DE 7 43280978 43280978 single base substitution G A intron_variant MALY-DE 7 43284052 43284052 single base substitution G T intron_variant MALY-DE 7 43284052 43284052 single base substitution G T upstream_gene_variant MALY-DE 7 43288933 43288933 single base substitution C T exon_variant MALY-DE 7 43288933 43288933 single base substitution C T intron_variant MALY-DE 7 43289944 43289944 single base substitution G C intron_variant MALY-DE 7 43300524 43300524 single base substitution G T downstream_gene_variant MALY-DE 7 43300524 43300524 single base substitution G T intron_variant MALY-DE 7 43301476 43301476 single base substitution T A downstream_gene_variant MALY-DE 7 43301476 43301476 single base substitution T A intron_variant MALY-DE 7 43301847 43301850 deletion of <=200bp GTGT - downstream_gene_variant MALY-DE 7 43301847 43301850 deletion of <=200bp GTGT - intron_variant MALY-DE 7 43304288 43304288 insertion of <=200bp - A intron_variant MALY-DE 7 43309561 43309561 single base substitution C T intron_variant MALY-DE 7 43315308 43315309 deletion of <=200bp CA - intron_variant MALY-DE 7 43315809 43315809 single base substitution A G intron_variant MALY-DE 7 43319197 43319197 single base substitution C T intron_variant MALY-DE 7 43321194 43321194 single base substitution A G intron_variant MALY-DE 7 43322723 43322723 deletion of <=200bp A - intron_variant MALY-DE 7 43325247 43325247 insertion of <=200bp - A intron_variant MALY-DE 7 43338055 43338055 single base substitution A C intron_variant MALY-DE 7 43338857 43338857 single base substitution T A intron_variant MALY-DE 7 43339138 43339138 deletion of <=200bp A - intron_variant MALY-DE 7 43339160 43339160 single base substitution C T intron_variant MALY-DE 7 43346009 43346009 single base substitution T G intron_variant MALY-DE 7 43347246 43347246 single base substitution T G intron_variant MALY-DE 7 43355065 43355067 deletion of <=200bp TTA - downstream_gene_variant MALY-DE 7 43355065 43355067 deletion of <=200bp TTA - intron_variant MALY-DE 7 43356046 43356046 single base substitution T G downstream_gene_variant MALY-DE 7 43356046 43356046 single base substitution T G intron_variant MALY-DE 7 43357409 43357410 deletion of <=200bp TG - intron_variant MALY-DE 7 43357501 43357501 single base substitution T G intron_variant MALY-DE 7 43361488 43361488 single base substitution T G intron_variant MALY-DE 7 43367561 43367561 insertion of <=200bp - TAT intron_variant MALY-DE 7 43367682 43367682 single base substitution A C intron_variant MALY-DE 7 43374682 43374682 deletion of <=200bp T - intron_variant MALY-DE 7 43375135 43375135 single base substitution C T intron_variant MALY-DE 7 43376025 43376025 single base substitution T C intron_variant MALY-DE 7 43377710 43377710 single base substitution G A intron_variant MALY-DE 7 43382862 43382862 single base substitution T A intron_variant MALY-DE 7 43386556 43386556 single base substitution C A intron_variant MALY-DE 7 43387208 43387208 single base substitution G A intron_variant MALY-DE 7 43388238 43388238 single base substitution G A intron_variant MALY-DE 7 43393789 43393789 single base substitution A T intron_variant MALY-DE 7 43402809 43402809 single base substitution C T intron_variant MALY-DE 7 43403510 43403510 single base substitution A G intron_variant MALY-DE 7 43403676 43403676 single base substitution T A intron_variant MALY-DE 7 43407593 43407593 single base substitution C T intron_variant MALY-DE 7 43411280 43411280 single base substitution C A intron_variant MALY-DE 7 43429243 43429243 single base substitution T C intron_variant MALY-DE 7 43440417 43440417 single base substitution T C intron_variant MALY-DE 7 43444200 43444200 single base substitution G A intron_variant MALY-DE 7 43444812 43444812 single base substitution T C intron_variant MALY-DE 7 43464754 43464754 single base substitution T G intron_variant MALY-DE 7 43466999 43466999 single base substitution C G intron_variant MALY-DE 7 43473641 43473641 single base substitution T A intron_variant MALY-DE 7 43473761 43473761 single base substitution C A intron_variant MALY-DE 7 43492784 43492784 single base substitution A G intron_variant MALY-DE 7 43500159 43500160 deletion of <=200bp GT - intron_variant MALY-DE 7 43508671 43508671 single base substitution G C synonymous_variant R1022R 3066G>C MALY-DE 7 43508671 43508671 single base substitution G C synonymous_variant R988R 2964G>C MALY-DE 7 43510050 43510050 single base substitution C G intron_variant MALY-DE 7 43517879 43517879 single base substitution G A intron_variant MALY-DE 7 43517879 43517879 single base substitution G A upstream_gene_variant MALY-DE 7 43518927 43518927 single base substitution T C intron_variant MALY-DE 7 43518927 43518927 single base substitution T C upstream_gene_variant MALY-DE 7 43518936 43518936 single base substitution T C intron_variant MALY-DE 7 43518936 43518936 single base substitution T C upstream_gene_variant MALY-DE 7 43519009 43519009 single base substitution C A intron_variant MALY-DE 7 43519009 43519009 single base substitution C A upstream_gene_variant MALY-DE 7 43520320 43520321 deletion of <=200bp AT - intron_variant MALY-DE 7 43521488 43521488 insertion of <=200bp - GGCAGGAGAAT intron_variant MALY-DE 7 43527973 43527973 single base substitution G A downstream_gene_variant MALY-DE 7 43527973 43527973 single base substitution G A intron_variant MALY-DE 7 43528253 43528253 single base substitution T C downstream_gene_variant MALY-DE 7 43528253 43528253 single base substitution T C intron_variant MALY-DE 7 43543410 43543410 single base substitution G C intron_variant MALY-DE 7 43543759 43543759 single base substitution G A intron_variant MALY-DE 7 43545651 43545651 single base substitution A T intron_variant MALY-DE 7 43565533 43565533 single base substitution G A intron_variant MALY-DE 7 43566010 43566010 single base substitution G A intron_variant MALY-DE 7 43572578 43572578 single base substitution C A intron_variant MALY-DE 7 43594315 43594315 single base substitution C T synonymous_variant F1511F 4533C>T MALY-DE 7 43594315 43594315 single base substitution C T synonymous_variant F1545F 4635C>T MALY-DE 7 43604061 43604061 single base substitution A T 3_prime_UTR_variant MALY-DE 7 43604061 43604061 single base substitution A T downstream_gene_variant MELA-AU 7 43147541 43147541 single base substitution G C upstream_gene_variant MELA-AU 7 43147697 43147697 single base substitution G A upstream_gene_variant MELA-AU 7 43148473 43148473 single base substitution G A upstream_gene_variant MELA-AU 7 43148494 43148494 single base substitution G A upstream_gene_variant MELA-AU 7 43148512 43148512 single base substitution G A upstream_gene_variant MELA-AU 7 43148666 43148666 single base substitution G A upstream_gene_variant MELA-AU 7 43148721 43148721 single base substitution G A upstream_gene_variant MELA-AU 7 43148942 43148942 single base substitution A T upstream_gene_variant MELA-AU 7 43148951 43148951 single base substitution C T upstream_gene_variant MELA-AU 7 43149206 43149206 single base substitution G A upstream_gene_variant MELA-AU 7 43149454 43149454 single base substitution G A upstream_gene_variant MELA-AU 7 43149486 43149486 single base substitution C T upstream_gene_variant MELA-AU 7 43149533 43149533 single base substitution C T upstream_gene_variant MELA-AU 7 43149636 43149636 single base substitution C T upstream_gene_variant MELA-AU 7 43149671 43149671 single base substitution C T upstream_gene_variant MELA-AU 7 43149985 43149985 single base substitution G A upstream_gene_variant MELA-AU 7 43150048 43150048 single base substitution C T upstream_gene_variant MELA-AU 7 43150158 43150158 single base substitution G A upstream_gene_variant MELA-AU 7 43150289 43150289 single base substitution C T upstream_gene_variant MELA-AU 7 43150575 43150575 single base substitution G A upstream_gene_variant MELA-AU 7 43151090 43151090 single base substitution A T upstream_gene_variant MELA-AU 7 43151234 43151234 single base substitution A C upstream_gene_variant MELA-AU 7 43151464 43151464 single base substitution C T upstream_gene_variant MELA-AU 7 43151645 43151645 single base substitution G A upstream_gene_variant MELA-AU 7 43151847 43151847 single base substitution C T upstream_gene_variant MELA-AU 7 43152265 43152265 single base substitution G A 5_prime_UTR_variant MELA-AU 7 43152265 43152265 single base substitution G A exon_variant MELA-AU 7 43152265 43152265 single base substitution G A upstream_gene_variant MELA-AU 7 43152474 43152475 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 7 43152474 43152475 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 7 43152474 43152475 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 43152536 43152536 single base substitution G A splice_region_variant MELA-AU 7 43152536 43152536 single base substitution G A upstream_gene_variant MELA-AU 7 43152608 43152608 single base substitution C T intron_variant MELA-AU 7 43152608 43152608 single base substitution C T upstream_gene_variant MELA-AU 7 43152846 43152846 single base substitution C T intron_variant MELA-AU 7 43152846 43152846 single base substitution C T upstream_gene_variant MELA-AU 7 43152948 43152948 single base substitution C A intron_variant MELA-AU 7 43152948 43152948 single base substitution C A upstream_gene_variant MELA-AU 7 43152993 43152993 single base substitution C T intron_variant MELA-AU 7 43152993 43152993 single base substitution C T upstream_gene_variant MELA-AU 7 43153333 43153333 single base substitution C T intron_variant MELA-AU 7 43153333 43153333 single base substitution C T upstream_gene_variant MELA-AU 7 43153901 43153901 single base substitution C T 5_prime_UTR_variant MELA-AU 7 43153901 43153901 single base substitution C T exon_variant MELA-AU 7 43153901 43153901 single base substitution C T intron_variant MELA-AU 7 43153918 43153919 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 7 43153918 43153919 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 7 43153918 43153919 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 43154132 43154132 single base substitution G A intron_variant MELA-AU 7 43154793 43154793 single base substitution G A intron_variant MELA-AU 7 43154794 43154794 single base substitution G A intron_variant MELA-AU 7 43154828 43154828 single base substitution C T intron_variant MELA-AU 7 43154863 43154863 single base substitution C T intron_variant MELA-AU 7 43154993 43154993 single base substitution C T intron_variant MELA-AU 7 43155084 43155084 single base substitution C T intron_variant MELA-AU 7 43155541 43155541 single base substitution T A intron_variant MELA-AU 7 43155663 43155663 single base substitution G A intron_variant MELA-AU 7 43155728 43155728 single base substitution C T intron_variant MELA-AU 7 43156012 43156012 single base substitution C T intron_variant MELA-AU 7 43156356 43156356 single base substitution G A intron_variant MELA-AU 7 43156535 43156535 single base substitution A T intron_variant MELA-AU 7 43156794 43156794 single base substitution G A intron_variant MELA-AU 7 43156810 43156810 single base substitution G A intron_variant MELA-AU 7 43156880 43156880 single base substitution C T intron_variant MELA-AU 7 43156898 43156898 single base substitution A G intron_variant MELA-AU 7 43156914 43156914 single base substitution T A intron_variant MELA-AU 7 43156971 43156971 single base substitution C T intron_variant MELA-AU 7 43157030 43157030 single base substitution C T intron_variant MELA-AU 7 43157107 43157107 single base substitution C T intron_variant MELA-AU 7 43157182 43157182 single base substitution C T intron_variant MELA-AU 7 43157203 43157203 single base substitution G T intron_variant MELA-AU 7 43157248 43157248 single base substitution G C intron_variant MELA-AU 7 43157455 43157455 single base substitution C T intron_variant MELA-AU 7 43157468 43157468 single base substitution G A intron_variant MELA-AU 7 43157560 43157560 single base substitution G A intron_variant MELA-AU 7 43157597 43157597 single base substitution G A intron_variant MELA-AU 7 43157675 43157675 single base substitution G A intron_variant MELA-AU 7 43157676 43157676 single base substitution G A intron_variant MELA-AU 7 43157707 43157707 single base substitution A T intron_variant MELA-AU 7 43157765 43157765 single base substitution C T intron_variant MELA-AU 7 43158028 43158028 single base substitution G A intron_variant MELA-AU 7 43158125 43158125 single base substitution C T intron_variant MELA-AU 7 43158131 43158131 single base substitution C T intron_variant MELA-AU 7 43158189 43158189 single base substitution T A intron_variant MELA-AU 7 43158196 43158196 single base substitution G A intron_variant MELA-AU 7 43158332 43158332 single base substitution C T intron_variant MELA-AU 7 43158361 43158361 single base substitution C T intron_variant MELA-AU 7 43158524 43158524 single base substitution G A intron_variant MELA-AU 7 43158555 43158555 single base substitution C T intron_variant MELA-AU 7 43158576 43158576 single base substitution C T intron_variant MELA-AU 7 43158582 43158582 single base substitution C T intron_variant MELA-AU 7 43158732 43158732 single base substitution G A intron_variant MELA-AU 7 43158822 43158822 single base substitution C T intron_variant MELA-AU 7 43158920 43158920 single base substitution G A intron_variant MELA-AU 7 43158978 43158978 single base substitution C T intron_variant MELA-AU 7 43159037 43159037 single base substitution C T intron_variant MELA-AU 7 43159130 43159130 single base substitution C T intron_variant MELA-AU 7 43159175 43159175 single base substitution C T intron_variant MELA-AU 7 43159210 43159210 single base substitution G A intron_variant MELA-AU 7 43159235 43159235 single base substitution C T intron_variant MELA-AU 7 43159325 43159325 single base substitution C T intron_variant MELA-AU 7 43159439 43159439 single base substitution C T intron_variant MELA-AU 7 43159442 43159442 single base substitution C T intron_variant MELA-AU 7 43159551 43159551 single base substitution G A intron_variant MELA-AU 7 43159682 43159682 single base substitution C T intron_variant MELA-AU 7 43159752 43159752 single base substitution C T intron_variant MELA-AU 7 43159888 43159888 single base substitution C T intron_variant MELA-AU 7 43159893 43159893 single base substitution A C intron_variant MELA-AU 7 43160066 43160066 single base substitution G A intron_variant MELA-AU 7 43160169 43160169 single base substitution C T intron_variant MELA-AU 7 43160335 43160335 single base substitution C T intron_variant MELA-AU 7 43160498 43160498 single base substitution G A intron_variant MELA-AU 7 43160520 43160520 single base substitution G A intron_variant MELA-AU 7 43160521 43160521 single base substitution G A intron_variant MELA-AU 7 43160613 43160613 single base substitution C T intron_variant MELA-AU 7 43160638 43160638 single base substitution C T intron_variant MELA-AU 7 43160653 43160654 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 43160655 43160655 single base substitution C T intron_variant MELA-AU 7 43160720 43160720 single base substitution C T intron_variant MELA-AU 7 43160884 43160884 single base substitution T C intron_variant MELA-AU 7 43160897 43160897 single base substitution C T intron_variant MELA-AU 7 43160986 43160986 single base substitution C T intron_variant MELA-AU 7 43161003 43161003 single base substitution C T intron_variant MELA-AU 7 43161015 43161015 single base substitution C T intron_variant MELA-AU 7 43161085 43161085 single base substitution C T intron_variant MELA-AU 7 43161108 43161108 single base substitution C T intron_variant MELA-AU 7 43161246 43161246 single base substitution C T intron_variant MELA-AU 7 43161324 43161324 single base substitution G A intron_variant MELA-AU 7 43161405 43161405 single base substitution C T intron_variant MELA-AU 7 43161529 43161529 single base substitution A G intron_variant MELA-AU 7 43161733 43161733 single base substitution G A intron_variant MELA-AU 7 43162033 43162033 single base substitution G A intron_variant MELA-AU 7 43162101 43162101 single base substitution C T intron_variant MELA-AU 7 43162189 43162189 single base substitution C T intron_variant MELA-AU 7 43162289 43162289 single base substitution C T intron_variant MELA-AU 7 43162305 43162305 single base substitution G A intron_variant MELA-AU 7 43162389 43162389 single base substitution A G intron_variant MELA-AU 7 43162454 43162454 single base substitution T C intron_variant MELA-AU 7 43162583 43162583 single base substitution C T intron_variant MELA-AU 7 43162872 43162872 single base substitution C A intron_variant MELA-AU 7 43162989 43162989 single base substitution G A intron_variant MELA-AU 7 43163079 43163079 single base substitution C T intron_variant MELA-AU 7 43163085 43163085 single base substitution G A intron_variant MELA-AU 7 43163177 43163177 single base substitution C T intron_variant MELA-AU 7 43163184 43163184 single base substitution C T intron_variant MELA-AU 7 43163221 43163221 single base substitution C T intron_variant MELA-AU 7 43163265 43163265 single base substitution G A intron_variant MELA-AU 7 43163297 43163297 single base substitution G A intron_variant MELA-AU 7 43163345 43163345 single base substitution C T intron_variant MELA-AU 7 43163362 43163362 single base substitution C T intron_variant MELA-AU 7 43163414 43163414 single base substitution A C intron_variant MELA-AU 7 43163420 43163420 single base substitution G A intron_variant MELA-AU 7 43163638 43163638 single base substitution G A intron_variant MELA-AU 7 43163648 43163648 single base substitution G A intron_variant MELA-AU 7 43163734 43163734 single base substitution G A intron_variant MELA-AU 7 43164499 43164499 single base substitution C A intron_variant MELA-AU 7 43164521 43164521 single base substitution G A intron_variant MELA-AU 7 43164566 43164566 single base substitution A T intron_variant MELA-AU 7 43164691 43164691 single base substitution C T intron_variant MELA-AU 7 43164701 43164701 single base substitution C T intron_variant MELA-AU 7 43164751 43164751 single base substitution G A intron_variant MELA-AU 7 43164773 43164773 single base substitution C T intron_variant MELA-AU 7 43164780 43164780 single base substitution C T intron_variant MELA-AU 7 43164802 43164802 single base substitution G A intron_variant MELA-AU 7 43164901 43164901 single base substitution G A intron_variant MELA-AU 7 43165029 43165029 single base substitution A G intron_variant MELA-AU 7 43165115 43165115 single base substitution G A intron_variant MELA-AU 7 43165251 43165251 single base substitution G A intron_variant MELA-AU 7 43165311 43165311 single base substitution C T intron_variant MELA-AU 7 43165334 43165334 single base substitution G A intron_variant MELA-AU 7 43165414 43165414 single base substitution G T intron_variant MELA-AU 7 43165445 43165445 single base substitution G A intron_variant MELA-AU 7 43165530 43165530 single base substitution C T intron_variant MELA-AU 7 43165593 43165593 single base substitution G A intron_variant MELA-AU 7 43165638 43165638 single base substitution G A intron_variant MELA-AU 7 43165681 43165681 single base substitution T A intron_variant MELA-AU 7 43165772 43165773 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 43165781 43165781 single base substitution C T intron_variant MELA-AU 7 43166227 43166227 single base substitution C T intron_variant MELA-AU 7 43166306 43166306 single base substitution C T intron_variant MELA-AU 7 43166381 43166381 single base substitution G A intron_variant MELA-AU 7 43166469 43166469 single base substitution T G intron_variant MELA-AU 7 43166772 43166772 single base substitution G A intron_variant MELA-AU 7 43166787 43166787 single base substitution G A intron_variant MELA-AU 7 43166810 43166810 single base substitution G A intron_variant MELA-AU 7 43167226 43167226 single base substitution C T intron_variant MELA-AU 7 43167227 43167227 single base substitution C T intron_variant MELA-AU 7 43167258 43167258 single base substitution C T intron_variant MELA-AU 7 43167267 43167267 single base substitution C A intron_variant MELA-AU 7 43167481 43167481 single base substitution C T intron_variant MELA-AU 7 43167558 43167558 single base substitution A G intron_variant MELA-AU 7 43167818 43167818 single base substitution G A intron_variant MELA-AU 7 43167865 43167865 single base substitution C T intron_variant MELA-AU 7 43167946 43167946 single base substitution C T intron_variant MELA-AU 7 43168032 43168032 single base substitution G A intron_variant MELA-AU 7 43168156 43168156 single base substitution G A intron_variant MELA-AU 7 43168341 43168341 single base substitution A C intron_variant MELA-AU 7 43168384 43168384 single base substitution C T intron_variant MELA-AU 7 43168452 43168452 single base substitution G A intron_variant MELA-AU 7 43168498 43168498 single base substitution G A intron_variant MELA-AU 7 43168681 43168681 single base substitution G A intron_variant MELA-AU 7 43168825 43168825 single base substitution G A intron_variant MELA-AU 7 43168846 43168846 single base substitution G A intron_variant MELA-AU 7 43168907 43168907 single base substitution T G intron_variant MELA-AU 7 43169282 43169282 single base substitution G A intron_variant MELA-AU 7 43169306 43169306 single base substitution C T intron_variant MELA-AU 7 43169406 43169406 single base substitution G A intron_variant MELA-AU 7 43169459 43169459 single base substitution C T intron_variant MELA-AU 7 43169663 43169663 single base substitution G A intron_variant MELA-AU 7 43169678 43169678 single base substitution A T intron_variant MELA-AU 7 43169713 43169713 single base substitution T C intron_variant MELA-AU 7 43169867 43169867 single base substitution G A intron_variant MELA-AU 7 43169924 43169924 single base substitution G A intron_variant MELA-AU 7 43169930 43169930 single base substitution C T intron_variant MELA-AU 7 43170128 43170128 single base substitution G A intron_variant MELA-AU 7 43170155 43170155 single base substitution A G intron_variant MELA-AU 7 43170311 43170311 single base substitution C T intron_variant MELA-AU 7 43170437 43170437 single base substitution G A intron_variant MELA-AU 7 43170760 43170760 single base substitution G A intron_variant MELA-AU 7 43170833 43170833 single base substitution C T intron_variant MELA-AU 7 43171150 43171150 single base substitution C T intron_variant MELA-AU 7 43171538 43171538 single base substitution G A intron_variant MELA-AU 7 43171548 43171548 single base substitution G A intron_variant MELA-AU 7 43171594 43171594 single base substitution G A intron_variant MELA-AU 7 43171596 43171596 single base substitution G A intron_variant MELA-AU 7 43171843 43171843 single base substitution C T intron_variant MELA-AU 7 43172003 43172003 single base substitution C T intron_variant MELA-AU 7 43172020 43172020 single base substitution C T intron_variant MELA-AU 7 43172053 43172053 single base substitution G A intron_variant MELA-AU 7 43172359 43172359 single base substitution C T intron_variant MELA-AU 7 43172378 43172378 single base substitution C T intron_variant MELA-AU 7 43172390 43172390 single base substitution C T intron_variant MELA-AU 7 43172446 43172446 single base substitution A C intron_variant MELA-AU 7 43172466 43172466 single base substitution G A intron_variant MELA-AU 7 43172524 43172524 single base substitution G A intron_variant MELA-AU 7 43172554 43172555 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 43172722 43172722 single base substitution G A intron_variant MELA-AU 7 43172760 43172760 single base substitution C T intron_variant MELA-AU 7 43172863 43172863 single base substitution G A intron_variant MELA-AU 7 43173126 43173126 single base substitution T A intron_variant MELA-AU 7 43173146 43173146 single base substitution C T intron_variant MELA-AU 7 43173181 43173181 single base substitution C T intron_variant MELA-AU 7 43173247 43173247 single base substitution C T intron_variant MELA-AU 7 43173258 43173258 single base substitution C T intron_variant MELA-AU 7 43173282 43173282 single base substitution C T intron_variant MELA-AU 7 43173318 43173318 deletion of <=200bp T - intron_variant MELA-AU 7 43173514 43173514 single base substitution C T intron_variant MELA-AU 7 43173600 43173600 single base substitution T G intron_variant MELA-AU 7 43173848 43173848 single base substitution C T intron_variant MELA-AU 7 43173876 43173876 single base substitution C T intron_variant MELA-AU 7 43173906 43173906 single base substitution C T intron_variant MELA-AU 7 43174053 43174053 single base substitution C T intron_variant MELA-AU 7 43174104 43174104 single base substitution T C intron_variant MELA-AU 7 43174154 43174154 single base substitution G A intron_variant MELA-AU 7 43174211 43174211 single base substitution C T intron_variant MELA-AU 7 43174382 43174382 single base substitution C T intron_variant MELA-AU 7 43174388 43174388 single base substitution C T intron_variant MELA-AU 7 43174615 43174615 single base substitution G A intron_variant MELA-AU 7 43174680 43174680 single base substitution G A intron_variant MELA-AU 7 43174793 43174793 single base substitution C T intron_variant MELA-AU 7 43174855 43174855 single base substitution G A intron_variant MELA-AU 7 43175103 43175103 single base substitution C T intron_variant MELA-AU 7 43175240 43175240 single base substitution C T intron_variant MELA-AU 7 43175371 43175371 single base substitution C T intron_variant MELA-AU 7 43175438 43175438 single base substitution C T intron_variant MELA-AU 7 43175477 43175477 single base substitution C T intron_variant MELA-AU 7 43175633 43175633 single base substitution C T intron_variant MELA-AU 7 43175790 43175790 single base substitution G A intron_variant MELA-AU 7 43175963 43175963 single base substitution T A intron_variant MELA-AU 7 43176001 43176001 single base substitution C T intron_variant MELA-AU 7 43176119 43176119 single base substitution G A intron_variant MELA-AU 7 43176159 43176159 single base substitution C T intron_variant MELA-AU 7 43176345 43176345 single base substitution C T intron_variant MELA-AU 7 43176480 43176480 single base substitution C T intron_variant MELA-AU 7 43176955 43176955 single base substitution G A intron_variant MELA-AU 7 43177015 43177015 single base substitution C T intron_variant MELA-AU 7 43177215 43177215 single base substitution C T intron_variant MELA-AU 7 43177240 43177240 single base substitution C T intron_variant MELA-AU 7 43177342 43177342 single base substitution T C intron_variant MELA-AU 7 43177712 43177712 single base substitution C T intron_variant MELA-AU 7 43177714 43177714 single base substitution A G intron_variant MELA-AU 7 43178288 43178288 single base substitution C T intron_variant MELA-AU 7 43178337 43178337 single base substitution G A intron_variant MELA-AU 7 43178426 43178426 single base substitution G A intron_variant MELA-AU 7 43178649 43178649 single base substitution C T intron_variant MELA-AU 7 43178658 43178658 single base substitution C T intron_variant MELA-AU 7 43178663 43178663 single base substitution C A intron_variant MELA-AU 7 43178748 43178748 single base substitution G A intron_variant MELA-AU 7 43178762 43178762 single base substitution G A intron_variant MELA-AU 7 43179052 43179052 single base substitution G A intron_variant MELA-AU 7 43179212 43179212 single base substitution C T intron_variant MELA-AU 7 43179263 43179263 single base substitution C T intron_variant MELA-AU 7 43179356 43179356 single base substitution G T intron_variant MELA-AU 7 43179446 43179446 single base substitution A G intron_variant MELA-AU 7 43179531 43179531 single base substitution G A intron_variant MELA-AU 7 43179730 43179730 single base substitution C T intron_variant MELA-AU 7 43179771 43179771 single base substitution C T intron_variant MELA-AU 7 43179818 43179818 single base substitution C T intron_variant MELA-AU 7 43179910 43179910 single base substitution A C intron_variant MELA-AU 7 43179971 43179971 single base substitution C T intron_variant MELA-AU 7 43180034 43180034 single base substitution C T intron_variant MELA-AU 7 43180139 43180139 single base substitution C T intron_variant MELA-AU 7 43180153 43180153 single base substitution C T intron_variant MELA-AU 7 43180201 43180201 single base substitution C T intron_variant MELA-AU 7 43180240 43180240 single base substitution C T intron_variant MELA-AU 7 43180293 43180293 single base substitution C T intron_variant MELA-AU 7 43180319 43180319 single base substitution C T intron_variant MELA-AU 7 43180342 43180342 single base substitution G A intron_variant MELA-AU 7 43180460 43180460 single base substitution C T intron_variant MELA-AU 7 43180539 43180539 single base substitution C A intron_variant MELA-AU 7 43180542 43180542 single base substitution C T intron_variant MELA-AU 7 43180701 43180701 single base substitution C T intron_variant MELA-AU 7 43180704 43180704 single base substitution C T intron_variant MELA-AU 7 43180716 43180716 single base substitution G A intron_variant MELA-AU 7 43180838 43180838 single base substitution C T intron_variant MELA-AU 7 43180892 43180892 single base substitution G A intron_variant MELA-AU 7 43180905 43180905 single base substitution G A intron_variant MELA-AU 7 43181128 43181128 single base substitution C T intron_variant MELA-AU 7 43181182 43181182 single base substitution C T intron_variant MELA-AU 7 43181296 43181296 single base substitution C T intron_variant MELA-AU 7 43181301 43181301 insertion of <=200bp - A intron_variant MELA-AU 7 43181338 43181338 single base substitution C T intron_variant MELA-AU 7 43181348 43181348 single base substitution C T intron_variant MELA-AU 7 43181592 43181592 single base substitution C T intron_variant MELA-AU 7 43181598 43181598 single base substitution G A intron_variant MELA-AU 7 43181731 43181731 single base substitution G A intron_variant MELA-AU 7 43181833 43181833 single base substitution G A intron_variant MELA-AU 7 43181861 43181861 single base substitution G A intron_variant MELA-AU 7 43182140 43182140 single base substitution C T intron_variant MELA-AU 7 43182256 43182256 single base substitution C T intron_variant MELA-AU 7 43182289 43182289 single base substitution G A intron_variant MELA-AU 7 43182751 43182751 single base substitution G A intron_variant MELA-AU 7 43182819 43182819 single base substitution C T intron_variant MELA-AU 7 43182849 43182849 single base substitution G A intron_variant MELA-AU 7 43183071 43183071 single base substitution G A intron_variant MELA-AU 7 43183224 43183224 single base substitution G A intron_variant MELA-AU 7 43183256 43183256 single base substitution C T intron_variant MELA-AU 7 43183371 43183371 single base substitution G A intron_variant MELA-AU 7 43183465 43183465 single base substitution G A intron_variant MELA-AU 7 43183817 43183817 single base substitution G A intron_variant MELA-AU 7 43183960 43183960 single base substitution C T intron_variant MELA-AU 7 43183988 43183988 single base substitution G A intron_variant MELA-AU 7 43184076 43184076 single base substitution C T intron_variant MELA-AU 7 43184123 43184123 single base substitution T C intron_variant MELA-AU 7 43184139 43184139 single base substitution G A intron_variant MELA-AU 7 43184383 43184383 single base substitution C T intron_variant MELA-AU 7 43184442 43184442 single base substitution G A intron_variant MELA-AU 7 43184524 43184524 single base substitution C T intron_variant MELA-AU 7 43184541 43184541 single base substitution C T intron_variant MELA-AU 7 43184545 43184545 single base substitution C T intron_variant MELA-AU 7 43184691 43184691 single base substitution C T intron_variant MELA-AU 7 43184757 43184757 single base substitution C T intron_variant MELA-AU 7 43184771 43184771 single base substitution G A intron_variant MELA-AU 7 43184781 43184781 single base substitution G A intron_variant MELA-AU 7 43184793 43184793 single base substitution G A intron_variant MELA-AU 7 43184857 43184857 single base substitution C T intron_variant MELA-AU 7 43185370 43185370 single base substitution C T intron_variant MELA-AU 7 43185378 43185378 single base substitution G A intron_variant MELA-AU 7 43185399 43185399 single base substitution A G intron_variant MELA-AU 7 43185400 43185401 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 43185537 43185537 single base substitution C T intron_variant MELA-AU 7 43185617 43185617 single base substitution G A intron_variant MELA-AU 7 43185746 43185746 single base substitution T C intron_variant MELA-AU 7 43185754 43185754 single base substitution C T intron_variant MELA-AU 7 43185762 43185762 single base substitution C T intron_variant MELA-AU 7 43185768 43185768 single base substitution C T intron_variant MELA-AU 7 43185769 43185769 single base substitution C T intron_variant MELA-AU 7 43185834 43185834 single base substitution C T intron_variant MELA-AU 7 43185984 43185984 single base substitution G A intron_variant MELA-AU 7 43186093 43186093 single base substitution G A intron_variant MELA-AU 7 43186098 43186098 single base substitution G A intron_variant MELA-AU 7 43186122 43186122 single base substitution G A intron_variant MELA-AU 7 43186164 43186164 single base substitution C T intron_variant MELA-AU 7 43186244 43186244 single base substitution G A intron_variant MELA-AU 7 43186250 43186250 single base substitution C T intron_variant MELA-AU 7 43186310 43186310 single base substitution G A intron_variant MELA-AU 7 43186341 43186341 single base substitution C T intron_variant MELA-AU 7 43186532 43186532 single base substitution G A intron_variant MELA-AU 7 43186557 43186557 single base substitution G A intron_variant MELA-AU 7 43186627 43186627 single base substitution G A intron_variant MELA-AU 7 43186715 43186715 single base substitution G A intron_variant MELA-AU 7 43186716 43186716 single base substitution G A intron_variant MELA-AU 7 43186766 43186766 single base substitution C T intron_variant MELA-AU 7 43187124 43187124 single base substitution C T intron_variant MELA-AU 7 43187274 43187274 single base substitution T C intron_variant MELA-AU 7 43187314 43187314 single base substitution C T intron_variant MELA-AU 7 43187421 43187421 single base substitution C T intron_variant MELA-AU 7 43187580 43187580 single base substitution C T intron_variant MELA-AU 7 43187644 43187644 single base substitution C T intron_variant MELA-AU 7 43187661 43187661 single base substitution T C intron_variant MELA-AU 7 43187669 43187669 single base substitution G A intron_variant MELA-AU 7 43187687 43187687 single base substitution G A intron_variant MELA-AU 7 43187700 43187700 single base substitution G A intron_variant MELA-AU 7 43187734 43187734 single base substitution G A intron_variant MELA-AU 7 43187798 43187798 single base substitution G A intron_variant MELA-AU 7 43187880 43187880 single base substitution C T intron_variant MELA-AU 7 43187886 43187886 single base substitution C T intron_variant MELA-AU 7 43187923 43187923 single base substitution G A intron_variant MELA-AU 7 43187975 43187975 single base substitution A C intron_variant MELA-AU 7 43188008 43188008 single base substitution G A intron_variant MELA-AU 7 43188052 43188052 single base substitution C T intron_variant MELA-AU 7 43188066 43188066 single base substitution C T intron_variant MELA-AU 7 43188097 43188097 single base substitution C T intron_variant MELA-AU 7 43188184 43188184 single base substitution T C intron_variant MELA-AU 7 43188260 43188260 single base substitution G A intron_variant MELA-AU 7 43188292 43188292 single base substitution G A intron_variant MELA-AU 7 43188351 43188351 single base substitution G A intron_variant MELA-AU 7 43188437 43188437 single base substitution G A intron_variant MELA-AU 7 43188618 43188618 single base substitution G A intron_variant MELA-AU 7 43188775 43188775 single base substitution A C intron_variant MELA-AU 7 43188810 43188810 single base substitution C T intron_variant MELA-AU 7 43188831 43188831 single base substitution C T intron_variant MELA-AU 7 43189018 43189018 single base substitution T C intron_variant MELA-AU 7 43189045 43189045 single base substitution G A intron_variant MELA-AU 7 43189056 43189056 single base substitution G A intron_variant MELA-AU 7 43189377 43189377 single base substitution T C intron_variant MELA-AU 7 43189512 43189512 single base substitution A T intron_variant MELA-AU 7 43189548 43189548 single base substitution G A intron_variant MELA-AU 7 43189577 43189577 single base substitution C T intron_variant MELA-AU 7 43189620 43189620 single base substitution G A intron_variant MELA-AU 7 43189779 43189779 single base substitution G A intron_variant MELA-AU 7 43189902 43189902 single base substitution C T intron_variant MELA-AU 7 43189946 43189946 single base substitution G A intron_variant MELA-AU 7 43189976 43189976 single base substitution C T intron_variant MELA-AU 7 43190444 43190444 single base substitution G A intron_variant MELA-AU 7 43190451 43190451 single base substitution G A intron_variant MELA-AU 7 43190491 43190491 single base substitution C T intron_variant MELA-AU 7 43190770 43190770 single base substitution C T intron_variant MELA-AU 7 43190791 43190791 single base substitution C T intron_variant MELA-AU 7 43190853 43190853 single base substitution G A intron_variant MELA-AU 7 43190896 43190896 single base substitution C T intron_variant MELA-AU 7 43190984 43190984 single base substitution G A intron_variant MELA-AU 7 43191080 43191080 single base substitution A G intron_variant MELA-AU 7 43191146 43191146 single base substitution G A intron_variant MELA-AU 7 43191185 43191185 single base substitution G A intron_variant MELA-AU 7 43191267 43191267 single base substitution G A intron_variant MELA-AU 7 43191337 43191337 single base substitution G A intron_variant MELA-AU 7 43191542 43191542 single base substitution A T intron_variant MELA-AU 7 43191704 43191704 single base substitution C T intron_variant MELA-AU 7 43191761 43191761 single base substitution G A intron_variant MELA-AU 7 43191847 43191847 single base substitution G A intron_variant MELA-AU 7 43191865 43191865 single base substitution A G intron_variant MELA-AU 7 43192014 43192014 single base substitution C T intron_variant MELA-AU 7 43192126 43192126 single base substitution C T intron_variant MELA-AU 7 43192222 43192222 single base substitution C T intron_variant MELA-AU 7 43192268 43192268 single base substitution C T intron_variant MELA-AU 7 43192307 43192307 single base substitution C T intron_variant MELA-AU 7 43192420 43192420 single base substitution T A intron_variant MELA-AU 7 43192550 43192550 single base substitution T C intron_variant MELA-AU 7 43192580 43192580 single base substitution C T intron_variant MELA-AU 7 43192642 43192642 single base substitution C T intron_variant MELA-AU 7 43192789 43192789 single base substitution C T intron_variant MELA-AU 7 43192840 43192840 single base substitution C T intron_variant MELA-AU 7 43192844 43192844 single base substitution A G intron_variant MELA-AU 7 43192963 43192963 single base substitution G A intron_variant MELA-AU 7 43193067 43193067 single base substitution G A intron_variant MELA-AU 7 43193093 43193093 single base substitution T G intron_variant MELA-AU 7 43193136 43193136 single base substitution C T intron_variant MELA-AU 7 43193258 43193258 single base substitution G A intron_variant MELA-AU 7 43193304 43193304 single base substitution C T intron_variant MELA-AU 7 43193305 43193305 single base substitution C T intron_variant MELA-AU 7 43193393 43193393 single base substitution G A intron_variant MELA-AU 7 43193522 43193522 single base substitution G A intron_variant MELA-AU 7 43193700 43193700 single base substitution C T intron_variant MELA-AU 7 43193721 43193721 single base substitution C T intron_variant MELA-AU 7 43193759 43193759 single base substitution C T intron_variant MELA-AU 7 43193804 43193804 single base substitution T A intron_variant MELA-AU 7 43193806 43193806 single base substitution A G intron_variant MELA-AU 7 43193807 43193807 single base substitution A T intron_variant MELA-AU 7 43193823 43193823 single base substitution C T intron_variant MELA-AU 7 43193945 43193945 single base substitution C T intron_variant MELA-AU 7 43193946 43193946 single base substitution C T intron_variant MELA-AU 7 43193980 43193980 single base substitution C T intron_variant MELA-AU 7 43194028 43194028 single base substitution G A intron_variant MELA-AU 7 43194190 43194190 single base substitution G A intron_variant MELA-AU 7 43194233 43194233 single base substitution G A intron_variant MELA-AU 7 43194262 43194262 single base substitution G A intron_variant MELA-AU 7 43194295 43194295 single base substitution G A intron_variant MELA-AU 7 43194410 43194410 single base substitution C T intron_variant MELA-AU 7 43194603 43194603 single base substitution G A intron_variant MELA-AU 7 43194630 43194630 single base substitution G A intron_variant MELA-AU 7 43194682 43194682 single base substitution C T intron_variant MELA-AU 7 43194881 43194881 single base substitution C T intron_variant MELA-AU 7 43194899 43194899 single base substitution C T intron_variant MELA-AU 7 43194969 43194969 single base substitution G A intron_variant MELA-AU 7 43194979 43194979 single base substitution G A intron_variant MELA-AU 7 43194986 43194987 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 43195089 43195089 single base substitution G A intron_variant MELA-AU 7 43195090 43195090 single base substitution G A intron_variant MELA-AU 7 43195318 43195318 single base substitution C T intron_variant MELA-AU 7 43195333 43195333 single base substitution C T intron_variant MELA-AU 7 43195361 43195361 single base substitution G A intron_variant MELA-AU 7 43195402 43195402 single base substitution G A intron_variant MELA-AU 7 43195472 43195472 single base substitution G A intron_variant MELA-AU 7 43195513 43195513 single base substitution C T intron_variant MELA-AU 7 43195552 43195552 single base substitution C T intron_variant MELA-AU 7 43195948 43195948 single base substitution A G intron_variant MELA-AU 7 43196020 43196020 single base substitution C T intron_variant MELA-AU 7 43196030 43196030 single base substitution C T intron_variant MELA-AU 7 43196060 43196060 single base substitution G A intron_variant MELA-AU 7 43196149 43196149 single base substitution G A intron_variant MELA-AU 7 43196208 43196208 single base substitution G A intron_variant MELA-AU 7 43196510 43196510 single base substitution C T intron_variant MELA-AU 7 43196545 43196545 single base substitution G A intron_variant MELA-AU 7 43196575 43196575 single base substitution G A intron_variant MELA-AU 7 43196651 43196651 single base substitution G A intron_variant MELA-AU 7 43196703 43196703 single base substitution T A intron_variant MELA-AU 7 43196848 43196848 single base substitution G A intron_variant MELA-AU 7 43196922 43196922 single base substitution C T intron_variant MELA-AU 7 43197254 43197254 single base substitution G A intron_variant MELA-AU 7 43197298 43197298 single base substitution T C intron_variant MELA-AU 7 43197430 43197430 single base substitution G A intron_variant MELA-AU 7 43197654 43197654 single base substitution G A intron_variant MELA-AU 7 43197789 43197789 single base substitution C T intron_variant MELA-AU 7 43197933 43197933 single base substitution G A intron_variant MELA-AU 7 43198250 43198250 single base substitution C T intron_variant MELA-AU 7 43198351 43198351 single base substitution C T intron_variant MELA-AU 7 43198590 43198590 single base substitution G A intron_variant MELA-AU 7 43198686 43198686 single base substitution C T intron_variant MELA-AU 7 43198938 43198938 single base substitution C T intron_variant MELA-AU 7 43198945 43198945 single base substitution C T intron_variant MELA-AU 7 43199057 43199057 single base substitution C T intron_variant MELA-AU 7 43199074 43199074 single base substitution T C intron_variant MELA-AU 7 43199193 43199193 single base substitution G A intron_variant MELA-AU 7 43199513 43199513 single base substitution C T intron_variant MELA-AU 7 43199548 43199548 single base substitution G A intron_variant MELA-AU 7 43199933 43199933 single base substitution C A intron_variant MELA-AU 7 43199965 43199965 single base substitution G A intron_variant MELA-AU 7 43199990 43199990 single base substitution G A intron_variant MELA-AU 7 43200222 43200222 single base substitution C T intron_variant MELA-AU 7 43200409 43200409 single base substitution C T intron_variant MELA-AU 7 43200418 43200418 single base substitution G A intron_variant MELA-AU 7 43200439 43200439 single base substitution G A intron_variant MELA-AU 7 43200459 43200459 single base substitution C T intron_variant MELA-AU 7 43200789 43200789 single base substitution G A intron_variant MELA-AU 7 43201068 43201068 single base substitution C T intron_variant MELA-AU 7 43201176 43201176 single base substitution G A intron_variant MELA-AU 7 43201188 43201188 single base substitution T A intron_variant MELA-AU 7 43201338 43201338 single base substitution C T intron_variant MELA-AU 7 43201378 43201378 single base substitution C T intron_variant MELA-AU 7 43201385 43201385 single base substitution C T intron_variant MELA-AU 7 43201398 43201398 single base substitution C T intron_variant MELA-AU 7 43201497 43201497 single base substitution C T intron_variant MELA-AU 7 43201632 43201632 single base substitution G A intron_variant MELA-AU 7 43201641 43201641 single base substitution G A intron_variant MELA-AU 7 43201705 43201705 single base substitution C T intron_variant MELA-AU 7 43201741 43201741 single base substitution C T intron_variant MELA-AU 7 43201761 43201761 single base substitution G A intron_variant MELA-AU 7 43201762 43201762 single base substitution G A intron_variant MELA-AU 7 43201818 43201818 single base substitution C T intron_variant MELA-AU 7 43201879 43201879 single base substitution C T intron_variant MELA-AU 7 43201903 43201903 single base substitution C T intron_variant MELA-AU 7 43201926 43201926 single base substitution C T intron_variant MELA-AU 7 43202053 43202053 single base substitution C T intron_variant MELA-AU 7 43202055 43202055 single base substitution C T intron_variant MELA-AU 7 43202065 43202065 single base substitution C T intron_variant MELA-AU 7 43202127 43202127 single base substitution G A intron_variant MELA-AU 7 43202170 43202170 single base substitution C T intron_variant MELA-AU 7 43202415 43202415 single base substitution G A intron_variant MELA-AU 7 43202585 43202585 single base substitution C T intron_variant MELA-AU 7 43202717 43202717 single base substitution G A intron_variant MELA-AU 7 43202986 43202986 single base substitution G A intron_variant MELA-AU 7 43203020 43203020 single base substitution T G intron_variant MELA-AU 7 43203032 43203032 single base substitution G A intron_variant MELA-AU 7 43203077 43203077 single base substitution G A intron_variant MELA-AU 7 43203209 43203209 single base substitution C T intron_variant MELA-AU 7 43203247 43203247 single base substitution G A intron_variant MELA-AU 7 43203268 43203269 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 43203276 43203276 single base substitution G A intron_variant MELA-AU 7 43203394 43203394 single base substitution A T intron_variant MELA-AU 7 43203412 43203412 single base substitution A G intron_variant MELA-AU 7 43203573 43203573 single base substitution G A intron_variant MELA-AU 7 43203601 43203601 single base substitution C T intron_variant MELA-AU 7 43203617 43203617 single base substitution G A intron_variant MELA-AU 7 43204039 43204039 single base substitution G A intron_variant MELA-AU 7 43204064 43204064 single base substitution C T intron_variant MELA-AU 7 43204069 43204069 single base substitution G A intron_variant MELA-AU 7 43204171 43204171 single base substitution C T intron_variant MELA-AU 7 43204174 43204174 single base substitution C T intron_variant MELA-AU 7 43204323 43204323 single base substitution G A intron_variant MELA-AU 7 43204750 43204750 single base substitution G A intron_variant MELA-AU 7 43204994 43204994 single base substitution G A intron_variant MELA-AU 7 43205120 43205120 single base substitution A T intron_variant MELA-AU 7 43205225 43205225 single base substitution G A intron_variant MELA-AU 7 43205304 43205304 single base substitution C T intron_variant MELA-AU 7 43205519 43205519 single base substitution A G intron_variant MELA-AU 7 43205523 43205523 single base substitution C T intron_variant MELA-AU 7 43205890 43205890 single base substitution C T intron_variant MELA-AU 7 43205902 43205902 single base substitution G A intron_variant MELA-AU 7 43206004 43206004 single base substitution G A intron_variant MELA-AU 7 43206159 43206159 single base substitution G A intron_variant MELA-AU 7 43206287 43206287 single base substitution G A intron_variant MELA-AU 7 43206422 43206422 single base substitution G A intron_variant MELA-AU 7 43206574 43206574 single base substitution G A intron_variant MELA-AU 7 43206619 43206619 single base substitution C T intron_variant MELA-AU 7 43206630 43206630 single base substitution C T intron_variant MELA-AU 7 43206657 43206657 single base substitution C T intron_variant MELA-AU 7 43206754 43206754 single base substitution G A intron_variant MELA-AU 7 43206767 43206768 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 43206769 43206769 single base substitution C T intron_variant MELA-AU 7 43206776 43206776 single base substitution G A intron_variant MELA-AU 7 43207067 43207067 single base substitution G A intron_variant MELA-AU 7 43207155 43207155 single base substitution G A intron_variant MELA-AU 7 43207176 43207176 single base substitution G A intron_variant MELA-AU 7 43207197 43207197 single base substitution G A intron_variant MELA-AU 7 43207257 43207257 single base substitution G A intron_variant MELA-AU 7 43207457 43207457 single base substitution G A intron_variant MELA-AU 7 43207658 43207658 single base substitution C T intron_variant MELA-AU 7 43207961 43207961 single base substitution C T intron_variant MELA-AU 7 43208153 43208153 single base substitution G A intron_variant MELA-AU 7 43208168 43208168 single base substitution G A intron_variant MELA-AU 7 43208190 43208190 single base substitution C T intron_variant MELA-AU 7 43208210 43208210 single base substitution G A intron_variant MELA-AU 7 43208258 43208258 single base substitution C T intron_variant MELA-AU 7 43208502 43208502 single base substitution G A intron_variant MELA-AU 7 43208589 43208589 single base substitution G A intron_variant MELA-AU 7 43208688 43208688 single base substitution G A intron_variant MELA-AU 7 43208836 43208836 single base substitution C T intron_variant MELA-AU 7 43209313 43209313 single base substitution G A intron_variant MELA-AU 7 43209443 43209443 single base substitution C T intron_variant MELA-AU 7 43209574 43209574 single base substitution C T intron_variant MELA-AU 7 43209625 43209625 single base substitution C T intron_variant MELA-AU 7 43209749 43209749 single base substitution G A intron_variant MELA-AU 7 43209788 43209788 single base substitution C T intron_variant MELA-AU 7 43209956 43209956 single base substitution C T intron_variant MELA-AU 7 43209964 43209964 single base substitution C T intron_variant MELA-AU 7 43209990 43209990 single base substitution G A intron_variant MELA-AU 7 43210000 43210000 single base substitution C T intron_variant MELA-AU 7 43210016 43210016 single base substitution T C intron_variant MELA-AU 7 43210033 43210033 single base substitution C T intron_variant MELA-AU 7 43210036 43210036 single base substitution G A intron_variant MELA-AU 7 43210203 43210203 single base substitution G A intron_variant MELA-AU 7 43210451 43210451 single base substitution G A intron_variant MELA-AU 7 43210547 43210547 single base substitution G A intron_variant MELA-AU 7 43210821 43210821 single base substitution C T intron_variant MELA-AU 7 43210841 43210841 single base substitution G A intron_variant MELA-AU 7 43210882 43210882 single base substitution G A intron_variant MELA-AU 7 43211016 43211016 single base substitution G A intron_variant MELA-AU 7 43211221 43211221 single base substitution G A intron_variant MELA-AU 7 43211295 43211295 single base substitution T A intron_variant MELA-AU 7 43211298 43211298 single base substitution A G intron_variant MELA-AU 7 43211440 43211440 single base substitution G A intron_variant MELA-AU 7 43211547 43211547 single base substitution T C intron_variant MELA-AU 7 43211571 43211571 single base substitution T A intron_variant MELA-AU 7 43211777 43211777 single base substitution C T intron_variant MELA-AU 7 43211946 43211946 single base substitution G A intron_variant MELA-AU 7 43211955 43211955 single base substitution A T intron_variant MELA-AU 7 43211956 43211956 single base substitution G A intron_variant MELA-AU 7 43212017 43212017 single base substitution G A intron_variant MELA-AU 7 43212039 43212039 single base substitution C T intron_variant MELA-AU 7 43212052 43212052 single base substitution C T intron_variant MELA-AU 7 43212207 43212207 single base substitution G A intron_variant MELA-AU 7 43212255 43212255 single base substitution C T intron_variant MELA-AU 7 43212338 43212338 single base substitution C T intron_variant MELA-AU 7 43212505 43212505 single base substitution G A intron_variant MELA-AU 7 43212530 43212530 single base substitution C T intron_variant MELA-AU 7 43212668 43212668 single base substitution C T intron_variant MELA-AU 7 43212734 43212734 single base substitution G A intron_variant MELA-AU 7 43212798 43212798 single base substitution C T intron_variant MELA-AU 7 43212836 43212836 single base substitution G A intron_variant MELA-AU 7 43212925 43212925 single base substitution G A intron_variant MELA-AU 7 43213044 43213044 single base substitution G A intron_variant MELA-AU 7 43213046 43213046 single base substitution G A intron_variant MELA-AU 7 43213080 43213080 single base substitution G A intron_variant MELA-AU 7 43213143 43213143 single base substitution C T intron_variant MELA-AU 7 43213186 43213186 single base substitution A C intron_variant MELA-AU 7 43213206 43213206 single base substitution G A intron_variant MELA-AU 7 43213353 43213353 single base substitution G A intron_variant MELA-AU 7 43213367 43213367 single base substitution G A intron_variant MELA-AU 7 43213473 43213473 single base substitution C T intron_variant MELA-AU 7 43213761 43213761 single base substitution G A intron_variant MELA-AU 7 43213832 43213832 single base substitution C T intron_variant MELA-AU 7 43213901 43213901 single base substitution G A intron_variant MELA-AU 7 43214168 43214168 single base substitution G A intron_variant MELA-AU 7 43214308 43214308 single base substitution G A intron_variant MELA-AU 7 43214321 43214321 single base substitution C T intron_variant MELA-AU 7 43214328 43214329 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 43214497 43214497 single base substitution C T intron_variant MELA-AU 7 43214764 43214764 single base substitution G A intron_variant MELA-AU 7 43214951 43214951 single base substitution G A intron_variant MELA-AU 7 43214966 43214966 single base substitution C T intron_variant MELA-AU 7 43214985 43214985 single base substitution C T intron_variant MELA-AU 7 43215002 43215002 single base substitution T A intron_variant MELA-AU 7 43215170 43215170 single base substitution G A intron_variant MELA-AU 7 43215181 43215181 single base substitution T G intron_variant MELA-AU 7 43215277 43215277 single base substitution G A intron_variant MELA-AU 7 43215387 43215387 single base substitution G A intron_variant MELA-AU 7 43215473 43215473 single base substitution T C intron_variant MELA-AU 7 43215475 43215475 single base substitution C T intron_variant MELA-AU 7 43215684 43215684 single base substitution C T intron_variant MELA-AU 7 43215986 43215986 single base substitution T G intron_variant MELA-AU 7 43215994 43215994 single base substitution C T intron_variant MELA-AU 7 43216046 43216046 single base substitution C T intron_variant MELA-AU 7 43216047 43216047 single base substitution T A intron_variant MELA-AU 7 43216130 43216130 single base substitution G A intron_variant MELA-AU 7 43216143 43216143 single base substitution G A intron_variant MELA-AU 7 43216152 43216152 single base substitution T C intron_variant MELA-AU 7 43216201 43216201 single base substitution G A intron_variant MELA-AU 7 43216253 43216253 single base substitution A C intron_variant MELA-AU 7 43216265 43216265 single base substitution C T intron_variant MELA-AU 7 43216318 43216318 single base substitution C T intron_variant MELA-AU 7 43216501 43216501 single base substitution T A intron_variant MELA-AU 7 43216547 43216547 single base substitution G T intron_variant MELA-AU 7 43216553 43216553 single base substitution C T intron_variant MELA-AU 7 43216726 43216726 single base substitution C T intron_variant MELA-AU 7 43216800 43216800 single base substitution C T intron_variant MELA-AU 7 43216996 43216996 single base substitution G A intron_variant MELA-AU 7 43217024 43217024 single base substitution C T intron_variant MELA-AU 7 43217450 43217450 single base substitution C T intron_variant MELA-AU 7 43217580 43217580 single base substitution C T intron_variant MELA-AU 7 43217602 43217602 single base substitution G A intron_variant MELA-AU 7 43217843 43217843 single base substitution G A intron_variant MELA-AU 7 43218074 43218074 single base substitution G A intron_variant MELA-AU 7 43218105 43218105 single base substitution G A intron_variant MELA-AU 7 43218329 43218329 single base substitution G T intron_variant MELA-AU 7 43218333 43218334 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 43218345 43218345 single base substitution G A intron_variant MELA-AU 7 43218406 43218406 single base substitution C T intron_variant MELA-AU 7 43218439 43218439 single base substitution C T intron_variant MELA-AU 7 43218440 43218440 single base substitution C T intron_variant MELA-AU 7 43218634 43218634 single base substitution G A intron_variant MELA-AU 7 43218755 43218755 single base substitution T C intron_variant MELA-AU 7 43218868 43218868 single base substitution G A intron_variant MELA-AU 7 43219427 43219427 single base substitution G A intron_variant MELA-AU 7 43219435 43219435 single base substitution G A intron_variant MELA-AU 7 43219464 43219464 single base substitution C T intron_variant MELA-AU 7 43219501 43219501 single base substitution T G intron_variant MELA-AU 7 43219513 43219513 single base substitution G A intron_variant MELA-AU 7 43219564 43219564 single base substitution C T intron_variant MELA-AU 7 43219699 43219699 single base substitution A G intron_variant MELA-AU 7 43219922 43219922 single base substitution G A intron_variant MELA-AU 7 43219945 43219945 single base substitution T C intron_variant MELA-AU 7 43220160 43220160 single base substitution A G intron_variant MELA-AU 7 43220189 43220189 single base substitution T C intron_variant MELA-AU 7 43220216 43220216 single base substitution G A intron_variant MELA-AU 7 43220543 43220543 single base substitution C T intron_variant MELA-AU 7 43220598 43220598 single base substitution C T intron_variant MELA-AU 7 43220612 43220612 single base substitution C T intron_variant MELA-AU 7 43220725 43220725 single base substitution C T intron_variant MELA-AU 7 43220823 43220823 single base substitution C T intron_variant MELA-AU 7 43220977 43220977 single base substitution C T intron_variant MELA-AU 7 43221026 43221026 single base substitution C T intron_variant MELA-AU 7 43221035 43221035 single base substitution C T intron_variant MELA-AU 7 43221121 43221121 single base substitution G A intron_variant MELA-AU 7 43221125 43221125 single base substitution A T intron_variant MELA-AU 7 43221174 43221174 single base substitution C T intron_variant MELA-AU 7 43221251 43221251 single base substitution G A intron_variant MELA-AU 7 43221421 43221421 single base substitution C T intron_variant MELA-AU 7 43221496 43221496 single base substitution C T intron_variant MELA-AU 7 43221849 43221849 single base substitution C T intron_variant MELA-AU 7 43221852 43221852 single base substitution C T intron_variant MELA-AU 7 43221869 43221869 single base substitution A C intron_variant MELA-AU 7 43222090 43222090 single base substitution C A intron_variant MELA-AU 7 43222197 43222197 single base substitution A G intron_variant MELA-AU 7 43222247 43222247 single base substitution G A intron_variant MELA-AU 7 43222251 43222251 single base substitution C T intron_variant MELA-AU 7 43222342 43222342 single base substitution C T intron_variant MELA-AU 7 43222384 43222384 single base substitution C T intron_variant MELA-AU 7 43222427 43222427 single base substitution C T intron_variant MELA-AU 7 43222452 43222452 single base substitution C T intron_variant MELA-AU 7 43222523 43222523 single base substitution G A intron_variant MELA-AU 7 43222884 43222884 single base substitution C T intron_variant MELA-AU 7 43222910 43222910 single base substitution G A intron_variant MELA-AU 7 43222934 43222934 single base substitution C T intron_variant MELA-AU 7 43222954 43222954 single base substitution C T intron_variant MELA-AU 7 43222990 43222990 single base substitution C T intron_variant MELA-AU 7 43223027 43223027 single base substitution G A intron_variant MELA-AU 7 43223378 43223378 single base substitution G A intron_variant MELA-AU 7 43223445 43223445 single base substitution G A intron_variant MELA-AU 7 43223505 43223505 single base substitution A T intron_variant MELA-AU 7 43223738 43223738 single base substitution G A intron_variant MELA-AU 7 43223839 43223839 single base substitution C T intron_variant MELA-AU 7 43223870 43223870 single base substitution C T intron_variant MELA-AU 7 43223986 43223986 single base substitution G A intron_variant MELA-AU 7 43224082 43224082 single base substitution G A intron_variant MELA-AU 7 43224090 43224090 single base substitution G A intron_variant MELA-AU 7 43224191 43224191 single base substitution G A intron_variant MELA-AU 7 43224200 43224200 single base substitution C T intron_variant MELA-AU 7 43224258 43224258 single base substitution C T intron_variant MELA-AU 7 43224520 43224520 insertion of <=200bp - AT intron_variant MELA-AU 7 43224604 43224604 single base substitution G A intron_variant MELA-AU 7 43224727 43224727 single base substitution T A intron_variant MELA-AU 7 43224746 43224746 single base substitution G A intron_variant MELA-AU 7 43224747 43224747 single base substitution G A intron_variant MELA-AU 7 43224763 43224763 single base substitution G A intron_variant MELA-AU 7 43224806 43224806 single base substitution G A intron_variant MELA-AU 7 43224830 43224830 single base substitution G A intron_variant MELA-AU 7 43224873 43224873 single base substitution C T intron_variant MELA-AU 7 43224987 43224987 single base substitution C T intron_variant MELA-AU 7 43225086 43225086 single base substitution A G intron_variant MELA-AU 7 43225133 43225133 single base substitution C T intron_variant MELA-AU 7 43225293 43225293 single base substitution T G intron_variant MELA-AU 7 43225322 43225322 single base substitution C T intron_variant MELA-AU 7 43225390 43225390 single base substitution G A intron_variant MELA-AU 7 43225468 43225468 single base substitution C T intron_variant MELA-AU 7 43225722 43225722 single base substitution C T intron_variant MELA-AU 7 43225732 43225732 single base substitution G A intron_variant MELA-AU 7 43225791 43225791 single base substitution A G intron_variant MELA-AU 7 43225879 43225879 single base substitution A T intron_variant MELA-AU 7 43225977 43225977 single base substitution G A intron_variant MELA-AU 7 43226023 43226023 single base substitution T C intron_variant MELA-AU 7 43226056 43226056 single base substitution G A intron_variant MELA-AU 7 43226160 43226160 single base substitution C T intron_variant MELA-AU 7 43226219 43226219 single base substitution G A intron_variant MELA-AU 7 43226237 43226237 single base substitution C T intron_variant MELA-AU 7 43226255 43226255 single base substitution G A intron_variant MELA-AU 7 43226289 43226289 single base substitution G A intron_variant MELA-AU 7 43226300 43226300 single base substitution C T intron_variant MELA-AU 7 43226356 43226356 single base substitution C T intron_variant MELA-AU 7 43226384 43226384 single base substitution C T intron_variant MELA-AU 7 43226431 43226431 single base substitution C T intron_variant MELA-AU 7 43226475 43226475 single base substitution C T intron_variant MELA-AU 7 43226526 43226526 single base substitution C T intron_variant MELA-AU 7 43226584 43226584 single base substitution G A intron_variant MELA-AU 7 43226765 43226765 single base substitution G A intron_variant MELA-AU 7 43226815 43226815 single base substitution G A intron_variant MELA-AU 7 43226860 43226860 single base substitution C T intron_variant MELA-AU 7 43226881 43226881 single base substitution C T intron_variant MELA-AU 7 43226891 43226891 single base substitution C T intron_variant MELA-AU 7 43226932 43226932 single base substitution C T intron_variant MELA-AU 7 43227113 43227113 single base substitution T G intron_variant MELA-AU 7 43227153 43227153 single base substitution C T intron_variant MELA-AU 7 43227233 43227233 single base substitution C T intron_variant MELA-AU 7 43227234 43227234 single base substitution C T intron_variant MELA-AU 7 43227300 43227300 single base substitution A G intron_variant MELA-AU 7 43227303 43227303 single base substitution C T intron_variant MELA-AU 7 43227376 43227376 single base substitution C T intron_variant MELA-AU 7 43227405 43227405 single base substitution C T intron_variant MELA-AU 7 43227496 43227496 single base substitution G A intron_variant MELA-AU 7 43227562 43227562 single base substitution G A intron_variant MELA-AU 7 43227779 43227779 single base substitution C T intron_variant MELA-AU 7 43227920 43227920 single base substitution C T intron_variant MELA-AU 7 43227959 43227959 single base substitution G A intron_variant MELA-AU 7 43227961 43227961 single base substitution G A intron_variant MELA-AU 7 43227975 43227975 single base substitution G A intron_variant MELA-AU 7 43228093 43228093 single base substitution C T intron_variant MELA-AU 7 43228171 43228171 single base substitution C A intron_variant MELA-AU 7 43228198 43228198 single base substitution C T intron_variant MELA-AU 7 43228199 43228199 single base substitution C T intron_variant MELA-AU 7 43228244 43228244 single base substitution G A intron_variant MELA-AU 7 43228366 43228366 single base substitution G A intron_variant MELA-AU 7 43228413 43228413 single base substitution T C intron_variant MELA-AU 7 43228453 43228453 single base substitution C T intron_variant MELA-AU 7 43228523 43228523 single base substitution G T intron_variant MELA-AU 7 43228580 43228580 single base substitution C T intron_variant MELA-AU 7 43228595 43228595 single base substitution C T intron_variant MELA-AU 7 43228641 43228641 single base substitution C T intron_variant MELA-AU 7 43228802 43228802 single base substitution C T intron_variant MELA-AU 7 43228940 43228940 single base substitution C T intron_variant MELA-AU 7 43228954 43228954 single base substitution G A intron_variant MELA-AU 7 43228998 43228998 single base substitution G A intron_variant MELA-AU 7 43229138 43229138 single base substitution C T intron_variant MELA-AU 7 43229320 43229320 single base substitution G A intron_variant MELA-AU 7 43229540 43229540 single base substitution C T intron_variant MELA-AU 7 43229598 43229598 single base substitution A T intron_variant MELA-AU 7 43229679 43229679 single base substitution G A intron_variant MELA-AU 7 43229762 43229762 single base substitution G A intron_variant MELA-AU 7 43229776 43229776 single base substitution G A intron_variant MELA-AU 7 43229803 43229803 single base substitution C T intron_variant MELA-AU 7 43229893 43229893 single base substitution A T intron_variant MELA-AU 7 43229919 43229919 single base substitution G A intron_variant MELA-AU 7 43229928 43229928 single base substitution G A intron_variant MELA-AU 7 43230087 43230087 single base substitution G A intron_variant MELA-AU 7 43230094 43230094 single base substitution G A intron_variant MELA-AU 7 43230106 43230106 single base substitution G A intron_variant MELA-AU 7 43230146 43230146 single base substitution G A intron_variant MELA-AU 7 43230163 43230163 single base substitution C T intron_variant MELA-AU 7 43230207 43230207 single base substitution C T intron_variant MELA-AU 7 43230236 43230236 single base substitution G A intron_variant MELA-AU 7 43230318 43230318 single base substitution C T intron_variant MELA-AU 7 43230319 43230319 single base substitution C T intron_variant MELA-AU 7 43230341 43230341 single base substitution C T intron_variant MELA-AU 7 43230349 43230349 single base substitution C T intron_variant MELA-AU 7 43230351 43230351 single base substitution C T intron_variant MELA-AU 7 43230353 43230353 single base substitution C T intron_variant MELA-AU 7 43230380 43230381 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 43230408 43230408 single base substitution G A intron_variant MELA-AU 7 43230430 43230430 single base substitution C T intron_variant MELA-AU 7 43230557 43230557 single base substitution C T intron_variant MELA-AU 7 43230562 43230562 single base substitution C T intron_variant MELA-AU 7 43230613 43230613 single base substitution A G intron_variant MELA-AU 7 43230667 43230668 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 43230692 43230692 single base substitution A T intron_variant MELA-AU 7 43230803 43230803 single base substitution C T intron_variant MELA-AU 7 43230822 43230822 single base substitution G A intron_variant MELA-AU 7 43230946 43230946 single base substitution T G intron_variant MELA-AU 7 43231002 43231002 single base substitution G A intron_variant MELA-AU 7 43231167 43231167 single base substitution C T intron_variant MELA-AU 7 43231218 43231218 single base substitution G A intron_variant MELA-AU 7 43231277 43231277 single base substitution G A intron_variant MELA-AU 7 43231291 43231291 single base substitution C T intron_variant MELA-AU 7 43231563 43231563 single base substitution C T intron_variant MELA-AU 7 43231623 43231623 single base substitution A T intron_variant MELA-AU 7 43231653 43231653 single base substitution G A intron_variant MELA-AU 7 43231815 43231815 single base substitution C T intron_variant MELA-AU 7 43231828 43231828 single base substitution G A intron_variant MELA-AU 7 43231946 43231946 single base substitution T G intron_variant MELA-AU 7 43232126 43232126 single base substitution C T intron_variant MELA-AU 7 43232169 43232169 single base substitution A G intron_variant MELA-AU 7 43232399 43232399 single base substitution G A intron_variant MELA-AU 7 43232539 43232539 single base substitution T A intron_variant MELA-AU 7 43232641 43232641 single base substitution G A intron_variant MELA-AU 7 43232648 43232648 single base substitution G A intron_variant MELA-AU 7 43232671 43232671 single base substitution C T intron_variant MELA-AU 7 43232699 43232699 single base substitution C T intron_variant MELA-AU 7 43232772 43232772 deletion of <=200bp A - intron_variant MELA-AU 7 43232905 43232905 single base substitution A G intron_variant MELA-AU 7 43232940 43232940 single base substitution C T intron_variant MELA-AU 7 43233025 43233025 single base substitution G A intron_variant MELA-AU 7 43233104 43233104 single base substitution C T intron_variant MELA-AU 7 43233478 43233478 single base substitution G A intron_variant MELA-AU 7 43233552 43233552 single base substitution G A intron_variant MELA-AU 7 43233721 43233721 single base substitution G A intron_variant MELA-AU 7 43233725 43233725 single base substitution G A intron_variant MELA-AU 7 43233784 43233784 single base substitution C T intron_variant MELA-AU 7 43233810 43233810 single base substitution C T intron_variant MELA-AU 7 43234108 43234108 single base substitution C T intron_variant MELA-AU 7 43234186 43234186 single base substitution C T intron_variant MELA-AU 7 43234212 43234212 single base substitution C T intron_variant MELA-AU 7 43234244 43234245 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 43234359 43234359 single base substitution C T intron_variant MELA-AU 7 43234552 43234552 single base substitution C T intron_variant MELA-AU 7 43234736 43234736 single base substitution C T intron_variant MELA-AU 7 43234795 43234795 single base substitution C T intron_variant MELA-AU 7 43234821 43234821 single base substitution G A intron_variant MELA-AU 7 43234827 43234827 single base substitution G A intron_variant MELA-AU 7 43234983 43234983 single base substitution C T intron_variant MELA-AU 7 43235086 43235086 single base substitution C T intron_variant MELA-AU 7 43235195 43235195 single base substitution C T intron_variant MELA-AU 7 43235197 43235197 single base substitution G A intron_variant MELA-AU 7 43235287 43235287 single base substitution C T intron_variant MELA-AU 7 43235409 43235409 single base substitution C T intron_variant MELA-AU 7 43235436 43235436 single base substitution C T intron_variant MELA-AU 7 43235522 43235522 single base substitution G A intron_variant MELA-AU 7 43235646 43235646 single base substitution G A intron_variant MELA-AU 7 43235725 43235725 single base substitution C T intron_variant MELA-AU 7 43235788 43235788 single base substitution C T intron_variant MELA-AU 7 43235810 43235810 single base substitution C T intron_variant MELA-AU 7 43236032 43236032 single base substitution T A intron_variant MELA-AU 7 43236034 43236034 single base substitution C T intron_variant MELA-AU 7 43236061 43236061 single base substitution C T intron_variant MELA-AU 7 43236258 43236258 single base substitution C T intron_variant MELA-AU 7 43236282 43236282 single base substitution G A intron_variant MELA-AU 7 43236417 43236417 single base substitution A G intron_variant MELA-AU 7 43236499 43236499 single base substitution C T intron_variant MELA-AU 7 43236516 43236516 single base substitution A G intron_variant MELA-AU 7 43236670 43236670 single base substitution G A intron_variant MELA-AU 7 43236872 43236872 single base substitution G A intron_variant MELA-AU 7 43236914 43236914 single base substitution C T intron_variant MELA-AU 7 43236949 43236949 single base substitution C T intron_variant MELA-AU 7 43237104 43237104 single base substitution G A intron_variant MELA-AU 7 43237148 43237148 single base substitution A T intron_variant MELA-AU 7 43237254 43237254 single base substitution G A intron_variant MELA-AU 7 43237436 43237436 single base substitution G A intron_variant MELA-AU 7 43237543 43237543 single base substitution C T intron_variant MELA-AU 7 43237995 43237995 single base substitution C T intron_variant MELA-AU 7 43238138 43238138 single base substitution C T intron_variant MELA-AU 7 43238290 43238290 single base substitution C T intron_variant MELA-AU 7 43238315 43238315 single base substitution G A intron_variant MELA-AU 7 43238556 43238556 single base substitution C T intron_variant MELA-AU 7 43238719 43238719 single base substitution C T intron_variant MELA-AU 7 43239162 43239162 single base substitution A C intron_variant MELA-AU 7 43239401 43239401 single base substitution G A intron_variant MELA-AU 7 43239647 43239647 single base substitution A G intron_variant MELA-AU 7 43239744 43239744 single base substitution G A intron_variant MELA-AU 7 43239888 43239888 single base substitution G A intron_variant MELA-AU 7 43239945 43239945 single base substitution T A intron_variant MELA-AU 7 43239976 43239976 single base substitution G A intron_variant MELA-AU 7 43240228 43240228 single base substitution C T intron_variant MELA-AU 7 43240233 43240233 single base substitution G A intron_variant MELA-AU 7 43240257 43240257 single base substitution T G intron_variant MELA-AU 7 43240345 43240345 single base substitution C T intron_variant MELA-AU 7 43240531 43240531 single base substitution G A intron_variant MELA-AU 7 43240536 43240536 single base substitution G A intron_variant MELA-AU 7 43240569 43240569 single base substitution G A intron_variant MELA-AU 7 43240607 43240607 single base substitution G A intron_variant MELA-AU 7 43240644 43240644 single base substitution A T intron_variant MELA-AU 7 43240696 43240696 single base substitution G A intron_variant MELA-AU 7 43240755 43240755 single base substitution G A intron_variant MELA-AU 7 43240801 43240801 single base substitution C T intron_variant MELA-AU 7 43240918 43240918 single base substitution T A intron_variant MELA-AU 7 43241024 43241024 single base substitution G A intron_variant MELA-AU 7 43241076 43241076 single base substitution G T intron_variant MELA-AU 7 43241151 43241151 single base substitution C T intron_variant MELA-AU 7 43241196 43241196 single base substitution C T intron_variant MELA-AU 7 43241301 43241301 single base substitution G A intron_variant MELA-AU 7 43241308 43241308 single base substitution G A intron_variant MELA-AU 7 43241363 43241363 single base substitution G A intron_variant MELA-AU 7 43241395 43241395 single base substitution G A intron_variant MELA-AU 7 43241432 43241432 single base substitution G A intron_variant MELA-AU 7 43241639 43241639 single base substitution A G intron_variant MELA-AU 7 43241730 43241730 single base substitution G A intron_variant MELA-AU 7 43241910 43241910 single base substitution C T intron_variant MELA-AU 7 43242416 43242416 single base substitution G A intron_variant MELA-AU 7 43242435 43242435 single base substitution G A intron_variant MELA-AU 7 43242442 43242442 single base substitution C T intron_variant MELA-AU 7 43242443 43242443 single base substitution C T intron_variant MELA-AU 7 43242454 43242454 single base substitution C T intron_variant MELA-AU 7 43242500 43242500 single base substitution C T intron_variant MELA-AU 7 43242505 43242505 single base substitution C T intron_variant MELA-AU 7 43242560 43242560 single base substitution C T intron_variant MELA-AU 7 43242561 43242561 single base substitution C T intron_variant MELA-AU 7 43242601 43242601 single base substitution C T intron_variant MELA-AU 7 43242632 43242632 single base substitution G A intron_variant MELA-AU 7 43242669 43242669 single base substitution G A intron_variant MELA-AU 7 43242685 43242685 single base substitution G A intron_variant MELA-AU 7 43242737 43242737 single base substitution G A intron_variant MELA-AU 7 43242827 43242827 single base substitution T G intron_variant MELA-AU 7 43242969 43242969 single base substitution C T intron_variant MELA-AU 7 43242998 43242998 single base substitution C T intron_variant MELA-AU 7 43243264 43243264 single base substitution C T intron_variant MELA-AU 7 43243502 43243502 single base substitution T A intron_variant MELA-AU 7 43243736 43243736 single base substitution A G intron_variant MELA-AU 7 43243820 43243820 single base substitution G A intron_variant MELA-AU 7 43243891 43243891 single base substitution A G intron_variant MELA-AU 7 43243918 43243918 single base substitution C T intron_variant MELA-AU 7 43243948 43243948 single base substitution G A intron_variant MELA-AU 7 43244154 43244154 single base substitution G A intron_variant MELA-AU 7 43244325 43244325 single base substitution G A intron_variant MELA-AU 7 43244378 43244378 single base substitution C T intron_variant MELA-AU 7 43244383 43244383 single base substitution C T intron_variant MELA-AU 7 43244404 43244404 single base substitution C T intron_variant MELA-AU 7 43244420 43244420 single base substitution G A intron_variant MELA-AU 7 43244439 43244439 single base substitution G A intron_variant MELA-AU 7 43244535 43244535 single base substitution C T intron_variant MELA-AU 7 43244662 43244662 single base substitution C T intron_variant MELA-AU 7 43244746 43244746 single base substitution G A intron_variant MELA-AU 7 43244778 43244778 single base substitution G A intron_variant MELA-AU 7 43244930 43244930 single base substitution C T intron_variant MELA-AU 7 43244958 43244958 single base substitution C T intron_variant MELA-AU 7 43245089 43245089 single base substitution G A intron_variant MELA-AU 7 43245291 43245291 single base substitution G A intron_variant MELA-AU 7 43245360 43245360 single base substitution C T intron_variant MELA-AU 7 43245364 43245364 single base substitution C T intron_variant MELA-AU 7 43245383 43245383 single base substitution G A intron_variant MELA-AU 7 43245520 43245520 single base substitution C T intron_variant MELA-AU 7 43245576 43245576 single base substitution C T intron_variant MELA-AU 7 43245593 43245593 single base substitution C T intron_variant MELA-AU 7 43245627 43245627 single base substitution C T intron_variant MELA-AU 7 43245696 43245696 single base substitution G A intron_variant MELA-AU 7 43245742 43245742 single base substitution G A intron_variant MELA-AU 7 43245778 43245778 single base substitution C A intron_variant MELA-AU 7 43245852 43245852 single base substitution G A intron_variant MELA-AU 7 43245938 43245938 single base substitution G A intron_variant MELA-AU 7 43245951 43245951 single base substitution G A intron_variant MELA-AU 7 43246040 43246040 single base substitution G A intron_variant MELA-AU 7 43246076 43246076 single base substitution C T intron_variant MELA-AU 7 43246084 43246084 single base substitution C T intron_variant MELA-AU 7 43246098 43246098 single base substitution G A intron_variant MELA-AU 7 43246280 43246280 single base substitution C T intron_variant MELA-AU 7 43246298 43246298 single base substitution C T intron_variant MELA-AU 7 43246413 43246413 single base substitution A C intron_variant MELA-AU 7 43246454 43246454 single base substitution G A intron_variant MELA-AU 7 43246462 43246462 single base substitution C T intron_variant MELA-AU 7 43246587 43246587 single base substitution G A intron_variant MELA-AU 7 43246842 43246842 single base substitution C T intron_variant MELA-AU 7 43246866 43246866 single base substitution G A intron_variant MELA-AU 7 43246914 43246914 single base substitution G A intron_variant MELA-AU 7 43247173 43247173 single base substitution C T intron_variant MELA-AU 7 43247217 43247217 single base substitution C T intron_variant MELA-AU 7 43247239 43247239 single base substitution C T intron_variant MELA-AU 7 43247398 43247398 single base substitution C T intron_variant MELA-AU 7 43247692 43247692 single base substitution G A intron_variant MELA-AU 7 43247707 43247707 single base substitution G A intron_variant MELA-AU 7 43247722 43247722 single base substitution C T intron_variant MELA-AU 7 43247732 43247732 single base substitution C T intron_variant MELA-AU 7 43247855 43247855 single base substitution G A intron_variant MELA-AU 7 43247936 43247936 single base substitution G A intron_variant MELA-AU 7 43247971 43247971 single base substitution C T intron_variant MELA-AU 7 43248116 43248116 single base substitution G A intron_variant MELA-AU 7 43248354 43248354 single base substitution C T intron_variant MELA-AU 7 43248357 43248357 single base substitution G A intron_variant MELA-AU 7 43248383 43248383 single base substitution C T intron_variant MELA-AU 7 43248445 43248445 single base substitution G A intron_variant MELA-AU 7 43248449 43248449 single base substitution C T intron_variant MELA-AU 7 43248756 43248756 single base substitution C T intron_variant MELA-AU 7 43248825 43248825 single base substitution G A intron_variant MELA-AU 7 43248922 43248922 single base substitution T C intron_variant MELA-AU 7 43248950 43248951 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 43248963 43248963 single base substitution G A intron_variant MELA-AU 7 43248988 43248988 single base substitution C T intron_variant MELA-AU 7 43248998 43248998 single base substitution C T intron_variant MELA-AU 7 43249146 43249146 single base substitution G A intron_variant MELA-AU 7 43249180 43249180 single base substitution C T intron_variant MELA-AU 7 43249480 43249480 single base substitution C T intron_variant MELA-AU 7 43249534 43249534 single base substitution C T intron_variant MELA-AU 7 43249595 43249595 single base substitution T A intron_variant MELA-AU 7 43249615 43249615 single base substitution A G intron_variant MELA-AU 7 43249638 43249638 single base substitution T G intron_variant MELA-AU 7 43249682 43249682 single base substitution G A intron_variant MELA-AU 7 43249692 43249692 single base substitution C T intron_variant MELA-AU 7 43249694 43249694 single base substitution G A intron_variant MELA-AU 7 43249734 43249734 single base substitution T A intron_variant MELA-AU 7 43249749 43249749 single base substitution G A intron_variant MELA-AU 7 43249860 43249860 single base substitution G A intron_variant MELA-AU 7 43249942 43249942 single base substitution G A intron_variant MELA-AU 7 43250324 43250324 single base substitution G A intron_variant MELA-AU 7 43250449 43250449 single base substitution A G intron_variant MELA-AU 7 43250464 43250464 single base substitution G A intron_variant MELA-AU 7 43250550 43250550 single base substitution C T intron_variant MELA-AU 7 43250811 43250811 single base substitution G A intron_variant MELA-AU 7 43250825 43250825 single base substitution C T intron_variant MELA-AU 7 43250867 43250867 single base substitution G A intron_variant MELA-AU 7 43250928 43250928 single base substitution C T intron_variant MELA-AU 7 43250968 43250968 single base substitution C T intron_variant MELA-AU 7 43251074 43251074 single base substitution C T intron_variant MELA-AU 7 43251099 43251099 single base substitution G A intron_variant MELA-AU 7 43251149 43251149 single base substitution C T intron_variant MELA-AU 7 43251260 43251260 single base substitution C T intron_variant MELA-AU 7 43251292 43251292 single base substitution C T intron_variant MELA-AU 7 43251353 43251353 single base substitution G A intron_variant MELA-AU 7 43251354 43251354 single base substitution G A intron_variant MELA-AU 7 43251386 43251386 single base substitution T G intron_variant MELA-AU 7 43251410 43251410 single base substitution C T intron_variant MELA-AU 7 43251573 43251573 single base substitution G A intron_variant MELA-AU 7 43251596 43251596 single base substitution G A intron_variant MELA-AU 7 43251701 43251701 single base substitution C A intron_variant MELA-AU 7 43251818 43251818 single base substitution A G intron_variant MELA-AU 7 43251953 43251953 single base substitution C T intron_variant MELA-AU 7 43252194 43252194 single base substitution G A intron_variant MELA-AU 7 43252240 43252240 single base substitution G A intron_variant MELA-AU 7 43252283 43252283 single base substitution G A intron_variant MELA-AU 7 43252418 43252418 single base substitution G A intron_variant MELA-AU 7 43252603 43252603 single base substitution T A intron_variant MELA-AU 7 43252635 43252635 single base substitution G A intron_variant MELA-AU 7 43252802 43252802 single base substitution C T intron_variant MELA-AU 7 43253069 43253069 single base substitution G A intron_variant MELA-AU 7 43253075 43253075 single base substitution C T intron_variant MELA-AU 7 43253454 43253454 single base substitution G A intron_variant MELA-AU 7 43253637 43253637 single base substitution C T intron_variant MELA-AU 7 43253791 43253791 single base substitution C T intron_variant MELA-AU 7 43253913 43253913 single base substitution G A intron_variant MELA-AU 7 43253989 43253989 single base substitution G A intron_variant MELA-AU 7 43254335 43254335 single base substitution G A intron_variant MELA-AU 7 43254372 43254372 single base substitution G A intron_variant MELA-AU 7 43254428 43254428 single base substitution G A intron_variant MELA-AU 7 43254454 43254454 single base substitution C T intron_variant MELA-AU 7 43254458 43254458 single base substitution C T intron_variant MELA-AU 7 43254539 43254539 single base substitution C T intron_variant MELA-AU 7 43254568 43254568 single base substitution A G intron_variant MELA-AU 7 43254639 43254639 single base substitution C T intron_variant MELA-AU 7 43254767 43254767 single base substitution A T intron_variant MELA-AU 7 43255045 43255045 single base substitution C T intron_variant MELA-AU 7 43255128 43255128 single base substitution C T intron_variant MELA-AU 7 43255251 43255251 single base substitution G A intron_variant MELA-AU 7 43255537 43255537 single base substitution G T intron_variant MELA-AU 7 43255825 43255825 single base substitution A G intron_variant MELA-AU 7 43256000 43256000 single base substitution C T intron_variant MELA-AU 7 43256038 43256038 single base substitution C T intron_variant MELA-AU 7 43256199 43256199 single base substitution G A intron_variant MELA-AU 7 43256208 43256208 single base substitution C T intron_variant MELA-AU 7 43256293 43256293 single base substitution C T intron_variant MELA-AU 7 43256378 43256378 single base substitution C T intron_variant MELA-AU 7 43256524 43256524 single base substitution G A intron_variant MELA-AU 7 43256548 43256548 single base substitution C T intron_variant MELA-AU 7 43256689 43256689 single base substitution C T intron_variant MELA-AU 7 43256755 43256755 single base substitution G A intron_variant MELA-AU 7 43256960 43256960 single base substitution T A intron_variant MELA-AU 7 43257306 43257306 single base substitution C T intron_variant MELA-AU 7 43257375 43257375 single base substitution G A intron_variant MELA-AU 7 43257562 43257562 single base substitution G A intron_variant MELA-AU 7 43257604 43257604 single base substitution G A intron_variant MELA-AU 7 43257650 43257651 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 7 43257724 43257724 single base substitution G A intron_variant MELA-AU 7 43257854 43257854 single base substitution G A intron_variant MELA-AU 7 43258024 43258024 single base substitution C T intron_variant MELA-AU 7 43258096 43258096 single base substitution G A intron_variant MELA-AU 7 43258128 43258128 single base substitution G A intron_variant MELA-AU 7 43258297 43258297 single base substitution G A intron_variant MELA-AU 7 43258299 43258299 single base substitution G A intron_variant MELA-AU 7 43258396 43258396 single base substitution G A intron_variant MELA-AU 7 43258409 43258409 single base substitution C T intron_variant MELA-AU 7 43258511 43258511 single base substitution C T intron_variant MELA-AU 7 43258612 43258612 single base substitution G A intron_variant MELA-AU 7 43258675 43258675 single base substitution G A intron_variant MELA-AU 7 43258687 43258687 single base substitution C T intron_variant MELA-AU 7 43258706 43258706 single base substitution T C intron_variant MELA-AU 7 43258825 43258825 single base substitution G A intron_variant MELA-AU 7 43258939 43258939 single base substitution G A intron_variant MELA-AU 7 43258966 43258966 single base substitution C T intron_variant MELA-AU 7 43259132 43259132 single base substitution C T intron_variant MELA-AU 7 43259134 43259134 single base substitution C T intron_variant MELA-AU 7 43259290 43259290 single base substitution C T intron_variant MELA-AU 7 43259335 43259335 single base substitution G T intron_variant MELA-AU 7 43259394 43259394 single base substitution C T intron_variant MELA-AU 7 43259625 43259625 single base substitution C T intron_variant MELA-AU 7 43259698 43259698 single base substitution G A intron_variant MELA-AU 7 43259767 43259767 single base substitution G A intron_variant MELA-AU 7 43259893 43259893 single base substitution C T intron_variant MELA-AU 7 43260189 43260189 single base substitution A G intron_variant MELA-AU 7 43260239 43260239 single base substitution C T intron_variant MELA-AU 7 43260282 43260282 single base substitution G A intron_variant MELA-AU 7 43260286 43260286 single base substitution C T intron_variant MELA-AU 7 43260410 43260410 single base substitution G A intron_variant MELA-AU 7 43260427 43260427 single base substitution G A intron_variant MELA-AU 7 43260511 43260511 single base substitution C T intron_variant MELA-AU 7 43260574 43260574 single base substitution C T intron_variant MELA-AU 7 43260596 43260596 single base substitution G A intron_variant MELA-AU 7 43260885 43260885 single base substitution G A intron_variant MELA-AU 7 43260890 43260890 single base substitution G A intron_variant MELA-AU 7 43260921 43260921 single base substitution C T intron_variant MELA-AU 7 43260961 43260961 single base substitution G A intron_variant MELA-AU 7 43261052 43261052 single base substitution C T intron_variant MELA-AU 7 43261128 43261128 single base substitution G A intron_variant MELA-AU 7 43261129 43261129 single base substitution G A intron_variant MELA-AU 7 43261246 43261246 single base substitution G A intron_variant MELA-AU 7 43261414 43261414 single base substitution G A intron_variant MELA-AU 7 43261451 43261451 single base substitution T C intron_variant MELA-AU 7 43261673 43261673 single base substitution T G intron_variant MELA-AU 7 43261682 43261682 single base substitution C T intron_variant MELA-AU 7 43261752 43261752 single base substitution G C intron_variant MELA-AU 7 43261757 43261757 single base substitution G A intron_variant MELA-AU 7 43261783 43261783 single base substitution G A intron_variant MELA-AU 7 43261792 43261792 single base substitution G A intron_variant MELA-AU 7 43262027 43262027 single base substitution G A intron_variant MELA-AU 7 43262085 43262086 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 7 43262238 43262238 single base substitution G A intron_variant MELA-AU 7 43262318 43262318 single base substitution A T intron_variant MELA-AU 7 43262368 43262368 single base substitution C T intron_variant MELA-AU 7 43262380 43262380 single base substitution C T intron_variant MELA-AU 7 43262383 43262383 single base substitution C T intron_variant MELA-AU 7 43262388 43262388 single base substitution C T intron_variant MELA-AU 7 43262397 43262397 single base substitution C T intron_variant MELA-AU 7 43262417 43262417 single base substitution G A intron_variant MELA-AU 7 43262519 43262519 single base substitution C T intron_variant MELA-AU 7 43262656 43262656 single base substitution C T intron_variant MELA-AU 7 43262669 43262669 single base substitution C T intron_variant MELA-AU 7 43262762 43262762 single base substitution C T intron_variant MELA-AU 7 43262790 43262790 single base substitution G A intron_variant MELA-AU 7 43262909 43262909 single base substitution C T intron_variant MELA-AU 7 43263132 43263132 single base substitution C T intron_variant MELA-AU 7 43263266 43263266 single base substitution C T intron_variant MELA-AU 7 43263284 43263284 single base substitution C T intron_variant MELA-AU 7 43263285 43263285 single base substitution C T intron_variant MELA-AU 7 43263387 43263387 single base substitution C T intron_variant MELA-AU 7 43263388 43263388 single base substitution C T intron_variant MELA-AU 7 43263423 43263423 single base substitution C A intron_variant MELA-AU 7 43263531 43263531 single base substitution C T intron_variant MELA-AU 7 43263629 43263629 single base substitution A C intron_variant MELA-AU 7 43263730 43263730 single base substitution T C intron_variant MELA-AU 7 43263799 43263799 single base substitution C T intron_variant MELA-AU 7 43263873 43263873 single base substitution G A intron_variant MELA-AU 7 43263918 43263918 single base substitution C T intron_variant MELA-AU 7 43264052 43264052 single base substitution G T intron_variant MELA-AU 7 43264203 43264203 single base substitution G A intron_variant MELA-AU 7 43264216 43264216 single base substitution C T intron_variant MELA-AU 7 43264273 43264273 single base substitution C T intron_variant MELA-AU 7 43264347 43264347 single base substitution G A intron_variant MELA-AU 7 43264395 43264396 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 43264446 43264446 single base substitution G A intron_variant MELA-AU 7 43264458 43264458 single base substitution G A intron_variant MELA-AU 7 43264508 43264508 single base substitution G A intron_variant MELA-AU 7 43264582 43264582 single base substitution C T intron_variant MELA-AU 7 43264706 43264706 single base substitution C T intron_variant MELA-AU 7 43264720 43264720 single base substitution T G intron_variant MELA-AU 7 43264721 43264721 single base substitution C T intron_variant MELA-AU 7 43264766 43264766 single base substitution G A intron_variant MELA-AU 7 43264776 43264776 single base substitution G A intron_variant MELA-AU 7 43264787 43264787 single base substitution C T intron_variant MELA-AU 7 43264870 43264870 single base substitution G A intron_variant MELA-AU 7 43264928 43264928 single base substitution C T intron_variant MELA-AU 7 43264965 43264965 single base substitution G A intron_variant MELA-AU 7 43265058 43265058 single base substitution G A intron_variant MELA-AU 7 43265246 43265246 single base substitution G A intron_variant MELA-AU 7 43265277 43265277 single base substitution C T intron_variant MELA-AU 7 43265363 43265363 single base substitution G A intron_variant MELA-AU 7 43265382 43265382 single base substitution G A intron_variant MELA-AU 7 43265408 43265408 single base substitution G A intron_variant MELA-AU 7 43265473 43265473 single base substitution G A intron_variant MELA-AU 7 43265587 43265587 single base substitution G A intron_variant MELA-AU 7 43265598 43265598 single base substitution C T intron_variant MELA-AU 7 43265613 43265613 single base substitution C T intron_variant MELA-AU 7 43265816 43265816 deletion of <=200bp T - intron_variant MELA-AU 7 43265823 43265823 single base substitution G A intron_variant MELA-AU 7 43265835 43265835 single base substitution G A intron_variant MELA-AU 7 43265862 43265862 single base substitution A C intron_variant MELA-AU 7 43265953 43265953 single base substitution G A intron_variant MELA-AU 7 43266005 43266005 single base substitution C T intron_variant MELA-AU 7 43266014 43266014 single base substitution G A intron_variant MELA-AU 7 43266198 43266198 single base substitution C T intron_variant MELA-AU 7 43266223 43266223 single base substitution C T intron_variant MELA-AU 7 43266230 43266230 single base substitution G A intron_variant MELA-AU 7 43266327 43266327 single base substitution G A intron_variant MELA-AU 7 43267045 43267045 single base substitution C T intron_variant MELA-AU 7 43267453 43267453 single base substitution C T intron_variant MELA-AU 7 43267488 43267488 single base substitution G A intron_variant MELA-AU 7 43267685 43267685 single base substitution G A intron_variant MELA-AU 7 43267706 43267706 single base substitution T A intron_variant MELA-AU 7 43267709 43267709 single base substitution G A intron_variant MELA-AU 7 43267961 43267961 single base substitution C T intron_variant MELA-AU 7 43268014 43268014 single base substitution C T intron_variant MELA-AU 7 43268647 43268647 single base substitution G A intron_variant MELA-AU 7 43269083 43269083 single base substitution G A intron_variant MELA-AU 7 43269310 43269310 single base substitution G A intron_variant MELA-AU 7 43269588 43269588 single base substitution G A intron_variant MELA-AU 7 43269637 43269637 single base substitution G A intron_variant MELA-AU 7 43269922 43269922 single base substitution G A intron_variant MELA-AU 7 43269982 43269982 single base substitution G A intron_variant MELA-AU 7 43270173 43270173 single base substitution C T intron_variant MELA-AU 7 43270271 43270271 single base substitution G A intron_variant MELA-AU 7 43270374 43270374 single base substitution A T intron_variant MELA-AU 7 43270853 43270853 single base substitution G A intron_variant MELA-AU 7 43271066 43271066 single base substitution A G intron_variant MELA-AU 7 43271334 43271334 single base substitution G A intron_variant MELA-AU 7 43271665 43271665 single base substitution C T intron_variant MELA-AU 7 43271703 43271704 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 7 43271752 43271752 single base substitution G A intron_variant MELA-AU 7 43271807 43271807 single base substitution G A intron_variant MELA-AU 7 43272227 43272227 single base substitution G A intron_variant MELA-AU 7 43272717 43272717 single base substitution C T intron_variant MELA-AU 7 43273070 43273070 single base substitution G A intron_variant MELA-AU 7 43273150 43273150 single base substitution C T intron_variant MELA-AU 7 43273270 43273270 single base substitution G A intron_variant MELA-AU 7 43273480 43273480 single base substitution G A intron_variant MELA-AU 7 43273572 43273572 single base substitution C T intron_variant MELA-AU 7 43273854 43273854 single base substitution C T intron_variant MELA-AU 7 43273931 43273931 single base substitution G A intron_variant MELA-AU 7 43274134 43274134 single base substitution C T intron_variant MELA-AU 7 43274157 43274157 single base substitution C T intron_variant MELA-AU 7 43274257 43274257 single base substitution C T intron_variant MELA-AU 7 43274352 43274352 single base substitution G A intron_variant MELA-AU 7 43274375 43274375 single base substitution G A intron_variant MELA-AU 7 43274465 43274465 single base substitution G A intron_variant MELA-AU 7 43274643 43274643 single base substitution G A intron_variant MELA-AU 7 43274700 43274700 single base substitution G A intron_variant MELA-AU 7 43274731 43274731 single base substitution G A intron_variant MELA-AU 7 43274755 43274755 single base substitution G A intron_variant MELA-AU 7 43274764 43274764 single base substitution G A intron_variant MELA-AU 7 43274772 43274772 single base substitution C T intron_variant MELA-AU 7 43274776 43274776 single base substitution G A intron_variant MELA-AU 7 43274791 43274791 single base substitution G A intron_variant MELA-AU 7 43274802 43274802 single base substitution C T intron_variant MELA-AU 7 43274803 43274803 single base substitution C T intron_variant MELA-AU 7 43274942 43274942 single base substitution G A intron_variant MELA-AU 7 43274992 43274992 single base substitution G A intron_variant MELA-AU 7 43275012 43275012 single base substitution G A intron_variant MELA-AU 7 43275014 43275014 single base substitution C T intron_variant MELA-AU 7 43275067 43275067 single base substitution G A intron_variant MELA-AU 7 43275150 43275150 single base substitution G A intron_variant MELA-AU 7 43275178 43275178 single base substitution G A intron_variant MELA-AU 7 43275277 43275277 single base substitution C T intron_variant MELA-AU 7 43275339 43275339 single base substitution C T intron_variant MELA-AU 7 43275388 43275388 single base substitution T A intron_variant MELA-AU 7 43275456 43275456 single base substitution G A intron_variant MELA-AU 7 43275502 43275502 single base substitution G A intron_variant MELA-AU 7 43275615 43275615 single base substitution C T intron_variant MELA-AU 7 43275634 43275634 single base substitution G A intron_variant MELA-AU 7 43275816 43275816 deletion of <=200bp T - intron_variant MELA-AU 7 43275939 43275939 single base substitution G A intron_variant MELA-AU 7 43276067 43276067 single base substitution C T intron_variant MELA-AU 7 43276090 43276090 single base substitution T A intron_variant MELA-AU 7 43276102 43276102 single base substitution C T intron_variant MELA-AU 7 43276144 43276144 single base substitution G A intron_variant MELA-AU 7 43276359 43276359 single base substitution G A intron_variant MELA-AU 7 43276370 43276370 single base substitution G A intron_variant MELA-AU 7 43276391 43276391 single base substitution C T intron_variant MELA-AU 7 43276477 43276477 single base substitution G A intron_variant MELA-AU 7 43276481 43276481 single base substitution A G intron_variant MELA-AU 7 43276527 43276527 single base substitution C T intron_variant MELA-AU 7 43276566 43276566 single base substitution C T intron_variant MELA-AU 7 43276968 43276968 single base substitution C T intron_variant MELA-AU 7 43277376 43277376 single base substitution G A intron_variant MELA-AU 7 43277643 43277643 single base substitution G A intron_variant MELA-AU 7 43277836 43277836 single base substitution G A intron_variant MELA-AU 7 43277862 43277862 single base substitution C A intron_variant MELA-AU 7 43277870 43277870 single base substitution G A intron_variant MELA-AU 7 43277974 43277974 single base substitution C T intron_variant MELA-AU 7 43278281 43278281 single base substitution G A intron_variant MELA-AU 7 43278665 43278665 single base substitution G A intron_variant MELA-AU 7 43278666 43278666 single base substitution G A intron_variant MELA-AU 7 43278819 43278819 single base substitution C T intron_variant MELA-AU 7 43279007 43279007 single base substitution C T intron_variant MELA-AU 7 43279012 43279012 single base substitution C T intron_variant MELA-AU 7 43279113 43279113 single base substitution C T intron_variant MELA-AU 7 43279123 43279123 single base substitution C T intron_variant MELA-AU 7 43279151 43279151 single base substitution G A intron_variant MELA-AU 7 43279533 43279533 single base substitution C T intron_variant MELA-AU 7 43279646 43279646 single base substitution T A intron_variant MELA-AU 7 43279732 43279732 single base substitution G A intron_variant MELA-AU 7 43279737 43279737 single base substitution C T intron_variant MELA-AU 7 43279982 43279982 single base substitution A G intron_variant MELA-AU 7 43280057 43280057 single base substitution G A intron_variant MELA-AU 7 43280422 43280422 single base substitution G A intron_variant MELA-AU 7 43280467 43280467 single base substitution C T intron_variant MELA-AU 7 43280504 43280504 single base substitution C T intron_variant MELA-AU 7 43280547 43280547 single base substitution G A intron_variant MELA-AU 7 43280553 43280553 single base substitution C T intron_variant MELA-AU 7 43280586 43280586 single base substitution G A intron_variant MELA-AU 7 43280703 43280703 single base substitution C T intron_variant MELA-AU 7 43281050 43281050 single base substitution G A intron_variant MELA-AU 7 43281271 43281271 single base substitution G A intron_variant MELA-AU 7 43281304 43281304 single base substitution C A intron_variant MELA-AU 7 43281356 43281356 single base substitution G A intron_variant MELA-AU 7 43281483 43281483 single base substitution G A intron_variant MELA-AU 7 43281819 43281819 single base substitution C T intron_variant MELA-AU 7 43281860 43281860 single base substitution G A intron_variant MELA-AU 7 43281908 43281908 single base substitution G A intron_variant MELA-AU 7 43281918 43281918 single base substitution G A intron_variant MELA-AU 7 43281957 43281957 single base substitution A G intron_variant MELA-AU 7 43281980 43281980 single base substitution G A intron_variant MELA-AU 7 43282030 43282030 single base substitution A T intron_variant MELA-AU 7 43282128 43282128 single base substitution C T intron_variant MELA-AU 7 43282183 43282183 single base substitution G A intron_variant MELA-AU 7 43282253 43282253 single base substitution G A intron_variant MELA-AU 7 43282274 43282274 single base substitution G A intron_variant MELA-AU 7 43282329 43282329 single base substitution G A intron_variant MELA-AU 7 43282387 43282387 single base substitution C T intron_variant MELA-AU 7 43282394 43282394 single base substitution G A intron_variant MELA-AU 7 43282454 43282454 single base substitution C T intron_variant MELA-AU 7 43282530 43282530 single base substitution C T intron_variant MELA-AU 7 43282639 43282639 single base substitution C T intron_variant MELA-AU 7 43282649 43282649 single base substitution C T intron_variant MELA-AU 7 43282731 43282731 single base substitution C T intron_variant MELA-AU 7 43282785 43282786 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 43283006 43283006 single base substitution G A intron_variant MELA-AU 7 43283093 43283093 single base substitution G A intron_variant MELA-AU 7 43283340 43283340 single base substitution C T intron_variant MELA-AU 7 43283340 43283340 single base substitution C T upstream_gene_variant MELA-AU 7 43283341 43283341 single base substitution C T intron_variant MELA-AU 7 43283341 43283341 single base substitution C T upstream_gene_variant MELA-AU 7 43283479 43283479 single base substitution G A 5_prime_UTR_variant MELA-AU 7 43283479 43283479 single base substitution G A intron_variant MELA-AU 7 43283479 43283479 single base substitution G A upstream_gene_variant MELA-AU 7 43283730 43283730 single base substitution C T intron_variant MELA-AU 7 43283730 43283730 single base substitution C T upstream_gene_variant MELA-AU 7 43284174 43284174 single base substitution C T intron_variant MELA-AU 7 43284174 43284174 single base substitution C T upstream_gene_variant MELA-AU 7 43284221 43284221 single base substitution G A intron_variant MELA-AU 7 43284221 43284221 single base substitution G A upstream_gene_variant MELA-AU 7 43284223 43284223 single base substitution G A intron_variant MELA-AU 7 43284223 43284223 single base substitution G A upstream_gene_variant MELA-AU 7 43284240 43284240 single base substitution G A intron_variant MELA-AU 7 43284240 43284240 single base substitution G A upstream_gene_variant MELA-AU 7 43284334 43284334 single base substitution C T intron_variant MELA-AU 7 43284334 43284334 single base substitution C T upstream_gene_variant MELA-AU 7 43284367 43284367 single base substitution T G intron_variant MELA-AU 7 43284367 43284367 single base substitution T G upstream_gene_variant MELA-AU 7 43284392 43284392 single base substitution G A intron_variant MELA-AU 7 43284392 43284392 single base substitution G A upstream_gene_variant MELA-AU 7 43284401 43284401 single base substitution G A intron_variant MELA-AU 7 43284401 43284401 single base substitution G A upstream_gene_variant MELA-AU 7 43284566 43284566 single base substitution A T intron_variant MELA-AU 7 43284566 43284566 single base substitution A T upstream_gene_variant MELA-AU 7 43284768 43284768 single base substitution C T intron_variant MELA-AU 7 43284768 43284768 single base substitution C T upstream_gene_variant MELA-AU 7 43284810 43284810 single base substitution C T intron_variant MELA-AU 7 43284810 43284810 single base substitution C T upstream_gene_variant MELA-AU 7 43284853 43284853 single base substitution C T intron_variant MELA-AU 7 43284853 43284853 single base substitution C T upstream_gene_variant MELA-AU 7 43284896 43284896 single base substitution G A intron_variant MELA-AU 7 43284896 43284896 single base substitution G A upstream_gene_variant MELA-AU 7 43284953 43284953 single base substitution C T intron_variant MELA-AU 7 43284953 43284953 single base substitution C T upstream_gene_variant MELA-AU 7 43284988 43284988 single base substitution G A intron_variant MELA-AU 7 43284988 43284988 single base substitution G A upstream_gene_variant MELA-AU 7 43285025 43285025 single base substitution C T intron_variant MELA-AU 7 43285025 43285025 single base substitution C T upstream_gene_variant MELA-AU 7 43285068 43285068 single base substitution C T intron_variant MELA-AU 7 43285068 43285068 single base substitution C T upstream_gene_variant MELA-AU 7 43285236 43285236 single base substitution C T intron_variant MELA-AU 7 43285236 43285236 single base substitution C T upstream_gene_variant MELA-AU 7 43285250 43285250 single base substitution C T intron_variant MELA-AU 7 43285250 43285250 single base substitution C T upstream_gene_variant MELA-AU 7 43285320 43285320 single base substitution C T intron_variant MELA-AU 7 43285320 43285320 single base substitution C T upstream_gene_variant MELA-AU 7 43285395 43285395 single base substitution G A intron_variant MELA-AU 7 43285395 43285395 single base substitution G A upstream_gene_variant MELA-AU 7 43285554 43285554 single base substitution C T intron_variant MELA-AU 7 43285554 43285554 single base substitution C T upstream_gene_variant MELA-AU 7 43285634 43285634 deletion of <=200bp G - intron_variant MELA-AU 7 43285634 43285634 deletion of <=200bp G - upstream_gene_variant MELA-AU 7 43285673 43285674 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 43285673 43285674 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 43285700 43285700 single base substitution C T intron_variant MELA-AU 7 43285700 43285700 single base substitution C T upstream_gene_variant MELA-AU 7 43285914 43285914 single base substitution G A intron_variant MELA-AU 7 43285914 43285914 single base substitution G A upstream_gene_variant MELA-AU 7 43285985 43285985 single base substitution G A intron_variant MELA-AU 7 43285985 43285985 single base substitution G A upstream_gene_variant MELA-AU 7 43286017 43286017 single base substitution G A intron_variant MELA-AU 7 43286017 43286017 single base substitution G A upstream_gene_variant MELA-AU 7 43286377 43286377 single base substitution G A intron_variant MELA-AU 7 43286377 43286377 single base substitution G A upstream_gene_variant MELA-AU 7 43286517 43286517 single base substitution A G intron_variant MELA-AU 7 43286517 43286517 single base substitution A G upstream_gene_variant MELA-AU 7 43286522 43286522 single base substitution C T intron_variant MELA-AU 7 43286522 43286522 single base substitution C T upstream_gene_variant MELA-AU 7 43286616 43286616 single base substitution C T intron_variant MELA-AU 7 43286616 43286616 single base substitution C T upstream_gene_variant MELA-AU 7 43286725 43286725 single base substitution C T intron_variant MELA-AU 7 43286725 43286725 single base substitution C T upstream_gene_variant MELA-AU 7 43286779 43286779 single base substitution C T intron_variant MELA-AU 7 43286779 43286779 single base substitution C T upstream_gene_variant MELA-AU 7 43286844 43286844 single base substitution G A intron_variant MELA-AU 7 43286844 43286844 single base substitution G A upstream_gene_variant MELA-AU 7 43286866 43286866 single base substitution C T intron_variant MELA-AU 7 43286866 43286866 single base substitution C T upstream_gene_variant MELA-AU 7 43286967 43286967 single base substitution C T intron_variant MELA-AU 7 43286967 43286967 single base substitution C T upstream_gene_variant MELA-AU 7 43286994 43286994 single base substitution C T intron_variant MELA-AU 7 43286994 43286994 single base substitution C T upstream_gene_variant MELA-AU 7 43287315 43287315 single base substitution G A intron_variant MELA-AU 7 43287315 43287315 single base substitution G A upstream_gene_variant MELA-AU 7 43287345 43287345 single base substitution G A intron_variant MELA-AU 7 43287345 43287345 single base substitution G A upstream_gene_variant MELA-AU 7 43287367 43287367 single base substitution G A intron_variant MELA-AU 7 43287367 43287367 single base substitution G A upstream_gene_variant MELA-AU 7 43287524 43287524 single base substitution G A intron_variant MELA-AU 7 43287524 43287524 single base substitution G A upstream_gene_variant MELA-AU 7 43287555 43287556 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 43287555 43287556 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 43287658 43287658 single base substitution G A intron_variant MELA-AU 7 43287658 43287658 single base substitution G A upstream_gene_variant MELA-AU 7 43287671 43287671 single base substitution G A intron_variant MELA-AU 7 43287671 43287671 single base substitution G A upstream_gene_variant MELA-AU 7 43287675 43287675 single base substitution G A intron_variant MELA-AU 7 43287675 43287675 single base substitution G A upstream_gene_variant MELA-AU 7 43287728 43287728 single base substitution T A intron_variant MELA-AU 7 43287728 43287728 single base substitution T A upstream_gene_variant MELA-AU 7 43287736 43287736 single base substitution G A intron_variant MELA-AU 7 43287736 43287736 single base substitution G A upstream_gene_variant MELA-AU 7 43287748 43287748 single base substitution G A intron_variant MELA-AU 7 43287748 43287748 single base substitution G A upstream_gene_variant MELA-AU 7 43287815 43287816 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 43287815 43287816 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 43287918 43287918 single base substitution C T intron_variant MELA-AU 7 43287918 43287918 single base substitution C T upstream_gene_variant MELA-AU 7 43287981 43287981 single base substitution C T intron_variant MELA-AU 7 43287981 43287981 single base substitution C T upstream_gene_variant MELA-AU 7 43288099 43288099 single base substitution G A intron_variant MELA-AU 7 43288099 43288099 single base substitution G A upstream_gene_variant MELA-AU 7 43288373 43288373 single base substitution C T intron_variant MELA-AU 7 43288373 43288373 single base substitution C T upstream_gene_variant MELA-AU 7 43288455 43288455 single base substitution G A intron_variant MELA-AU 7 43288455 43288455 single base substitution G A upstream_gene_variant MELA-AU 7 43288464 43288464 single base substitution C T intron_variant MELA-AU 7 43288464 43288464 single base substitution C T upstream_gene_variant MELA-AU 7 43288599 43288599 single base substitution T C exon_variant MELA-AU 7 43288599 43288599 single base substitution T C intron_variant MELA-AU 7 43288599 43288599 single base substitution T C upstream_gene_variant MELA-AU 7 43288645 43288645 single base substitution C T exon_variant MELA-AU 7 43288645 43288645 single base substitution C T intron_variant MELA-AU 7 43288645 43288645 single base substitution C T upstream_gene_variant MELA-AU 7 43288703 43288703 single base substitution C T exon_variant MELA-AU 7 43288703 43288703 single base substitution C T intron_variant MELA-AU 7 43288703 43288703 single base substitution C T upstream_gene_variant MELA-AU 7 43288751 43288751 single base substitution C T exon_variant MELA-AU 7 43288751 43288751 single base substitution C T intron_variant MELA-AU 7 43288941 43288941 single base substitution G A exon_variant MELA-AU 7 43288941 43288941 single base substitution G A intron_variant MELA-AU 7 43288949 43288949 single base substitution C T exon_variant MELA-AU 7 43288949 43288949 single base substitution C T intron_variant MELA-AU 7 43289005 43289005 single base substitution T C exon_variant MELA-AU 7 43289005 43289005 single base substitution T C intron_variant MELA-AU 7 43289032 43289032 single base substitution A G exon_variant MELA-AU 7 43289032 43289032 single base substitution A G intron_variant MELA-AU 7 43289183 43289183 single base substitution G A intron_variant MELA-AU 7 43289329 43289329 single base substitution G A intron_variant MELA-AU 7 43289462 43289462 single base substitution C T intron_variant MELA-AU 7 43289617 43289617 single base substitution G A intron_variant MELA-AU 7 43289859 43289859 single base substitution A G intron_variant MELA-AU 7 43289882 43289882 single base substitution C T intron_variant MELA-AU 7 43289895 43289895 single base substitution G A intron_variant MELA-AU 7 43289923 43289923 single base substitution G A intron_variant MELA-AU 7 43290137 43290137 single base substitution G A intron_variant MELA-AU 7 43290140 43290140 single base substitution G A intron_variant MELA-AU 7 43290147 43290147 single base substitution G A intron_variant MELA-AU 7 43290152 43290152 single base substitution G A intron_variant MELA-AU 7 43290307 43290307 single base substitution C T intron_variant MELA-AU 7 43290612 43290612 single base substitution C T intron_variant MELA-AU 7 43290622 43290622 single base substitution C T intron_variant MELA-AU 7 43290902 43290902 single base substitution C T intron_variant MELA-AU 7 43291016 43291016 single base substitution C T intron_variant MELA-AU 7 43291049 43291049 single base substitution G A intron_variant MELA-AU 7 43291346 43291346 single base substitution C T intron_variant MELA-AU 7 43291359 43291359 single base substitution C T intron_variant MELA-AU 7 43291362 43291362 single base substitution C T intron_variant MELA-AU 7 43291372 43291372 single base substitution C T intron_variant MELA-AU 7 43291619 43291619 single base substitution C T intron_variant MELA-AU 7 43291685 43291685 single base substitution C G intron_variant MELA-AU 7 43291764 43291764 single base substitution C T intron_variant MELA-AU 7 43292097 43292097 single base substitution C T intron_variant MELA-AU 7 43292156 43292156 single base substitution G A intron_variant MELA-AU 7 43292224 43292224 single base substitution G A intron_variant MELA-AU 7 43292265 43292265 single base substitution C T intron_variant MELA-AU 7 43292333 43292333 single base substitution T A intron_variant MELA-AU 7 43292399 43292399 single base substitution G A intron_variant MELA-AU 7 43292645 43292645 single base substitution C T intron_variant MELA-AU 7 43292665 43292665 single base substitution G A intron_variant MELA-AU 7 43292746 43292746 single base substitution C T intron_variant MELA-AU 7 43292846 43292846 single base substitution C T intron_variant MELA-AU 7 43292976 43292976 single base substitution G A intron_variant MELA-AU 7 43293002 43293002 single base substitution C T intron_variant MELA-AU 7 43293046 43293046 single base substitution C T intron_variant MELA-AU 7 43293184 43293184 single base substitution C T intron_variant MELA-AU 7 43293261 43293261 single base substitution G A intron_variant MELA-AU 7 43293264 43293264 single base substitution G A intron_variant MELA-AU 7 43293433 43293433 single base substitution G A intron_variant MELA-AU 7 43293461 43293461 single base substitution C T intron_variant MELA-AU 7 43293502 43293502 single base substitution C T intron_variant MELA-AU 7 43293569 43293569 single base substitution G A intron_variant MELA-AU 7 43293739 43293739 single base substitution C T intron_variant MELA-AU 7 43294215 43294215 single base substitution C T intron_variant MELA-AU 7 43294242 43294242 single base substitution G A intron_variant MELA-AU 7 43294252 43294252 single base substitution C T intron_variant MELA-AU 7 43294273 43294273 single base substitution G A intron_variant MELA-AU 7 43294490 43294490 single base substitution G A intron_variant MELA-AU 7 43294517 43294517 single base substitution G A intron_variant MELA-AU 7 43294599 43294599 single base substitution G C intron_variant MELA-AU 7 43294612 43294612 single base substitution C T intron_variant MELA-AU 7 43294624 43294624 single base substitution C T intron_variant MELA-AU 7 43294698 43294698 single base substitution C T intron_variant MELA-AU 7 43294750 43294750 single base substitution G A intron_variant MELA-AU 7 43294761 43294761 single base substitution C T intron_variant MELA-AU 7 43294820 43294820 single base substitution A T intron_variant MELA-AU 7 43295668 43295668 single base substitution C T intron_variant MELA-AU 7 43295719 43295719 single base substitution C T intron_variant MELA-AU 7 43295978 43295978 single base substitution G A intron_variant MELA-AU 7 43296144 43296144 single base substitution G A intron_variant MELA-AU 7 43296198 43296198 single base substitution A G intron_variant MELA-AU 7 43296692 43296692 single base substitution T C intron_variant MELA-AU 7 43296845 43296845 single base substitution G A intron_variant MELA-AU 7 43296921 43296921 single base substitution G A intron_variant MELA-AU 7 43297331 43297331 single base substitution C T intron_variant MELA-AU 7 43297592 43297592 single base substitution C T intron_variant MELA-AU 7 43297757 43297757 single base substitution G A intron_variant MELA-AU 7 43297856 43297856 single base substitution C T intron_variant MELA-AU 7 43297865 43297865 single base substitution C T intron_variant MELA-AU 7 43297918 43297918 single base substitution G A intron_variant MELA-AU 7 43297983 43297983 single base substitution G A intron_variant MELA-AU 7 43298318 43298318 deletion of <=200bp T - downstream_gene_variant MELA-AU 7 43298318 43298318 deletion of <=200bp T - exon_variant MELA-AU 7 43298318 43298318 deletion of <=200bp T - intron_variant MELA-AU 7 43298711 43298711 single base substitution G A downstream_gene_variant MELA-AU 7 43298711 43298711 single base substitution G A intron_variant MELA-AU 7 43298726 43298726 single base substitution C T downstream_gene_variant MELA-AU 7 43298726 43298726 single base substitution C T intron_variant MELA-AU 7 43298799 43298799 single base substitution G A downstream_gene_variant MELA-AU 7 43298799 43298799 single base substitution G A intron_variant MELA-AU 7 43299033 43299033 single base substitution G A downstream_gene_variant MELA-AU 7 43299033 43299033 single base substitution G A intron_variant MELA-AU 7 43299175 43299175 single base substitution G A downstream_gene_variant MELA-AU 7 43299175 43299175 single base substitution G A intron_variant MELA-AU 7 43299213 43299213 single base substitution G A downstream_gene_variant MELA-AU 7 43299213 43299213 single base substitution G A intron_variant MELA-AU 7 43299221 43299221 single base substitution G A downstream_gene_variant MELA-AU 7 43299221 43299221 single base substitution G A intron_variant MELA-AU 7 43299244 43299244 single base substitution G A downstream_gene_variant MELA-AU 7 43299244 43299244 single base substitution G A intron_variant MELA-AU 7 43299752 43299752 single base substitution T G downstream_gene_variant MELA-AU 7 43299752 43299752 single base substitution T G intron_variant MELA-AU 7 43299820 43299820 single base substitution T G downstream_gene_variant MELA-AU 7 43299820 43299820 single base substitution T G intron_variant MELA-AU 7 43299842 43299842 single base substitution G A downstream_gene_variant MELA-AU 7 43299842 43299842 single base substitution G A intron_variant MELA-AU 7 43300001 43300001 single base substitution G A downstream_gene_variant MELA-AU 7 43300001 43300001 single base substitution G A intron_variant MELA-AU 7 43300176 43300176 single base substitution G A downstream_gene_variant MELA-AU 7 43300176 43300176 single base substitution G A intron_variant MELA-AU 7 43300198 43300198 single base substitution G A downstream_gene_variant MELA-AU 7 43300198 43300198 single base substitution G A intron_variant MELA-AU 7 43300249 43300249 single base substitution G A downstream_gene_variant MELA-AU 7 43300249 43300249 single base substitution G A intron_variant MELA-AU 7 43300366 43300366 single base substitution G A downstream_gene_variant MELA-AU 7 43300366 43300366 single base substitution G A intron_variant MELA-AU 7 43300546 43300546 single base substitution C T downstream_gene_variant MELA-AU 7 43300546 43300546 single base substitution C T intron_variant MELA-AU 7 43300582 43300582 single base substitution C T downstream_gene_variant MELA-AU 7 43300582 43300582 single base substitution C T intron_variant MELA-AU 7 43300591 43300591 single base substitution C T downstream_gene_variant MELA-AU 7 43300591 43300591 single base substitution C T intron_variant MELA-AU 7 43300660 43300660 single base substitution G A downstream_gene_variant MELA-AU 7 43300660 43300660 single base substitution G A intron_variant MELA-AU 7 43301567 43301567 single base substitution C T downstream_gene_variant MELA-AU 7 43301567 43301567 single base substitution C T intron_variant MELA-AU 7 43301569 43301569 single base substitution C A downstream_gene_variant MELA-AU 7 43301569 43301569 single base substitution C A intron_variant MELA-AU 7 43301749 43301749 single base substitution G T downstream_gene_variant MELA-AU 7 43301749 43301749 single base substitution G T intron_variant MELA-AU 7 43302065 43302065 single base substitution G A downstream_gene_variant MELA-AU 7 43302065 43302065 single base substitution G A intron_variant MELA-AU 7 43302234 43302234 single base substitution C T downstream_gene_variant MELA-AU 7 43302234 43302234 single base substitution C T intron_variant MELA-AU 7 43302269 43302269 single base substitution G A downstream_gene_variant MELA-AU 7 43302269 43302269 single base substitution G A intron_variant MELA-AU 7 43302462 43302462 single base substitution C T downstream_gene_variant MELA-AU 7 43302462 43302462 single base substitution C T intron_variant MELA-AU 7 43302769 43302769 single base substitution G A downstream_gene_variant MELA-AU 7 43302769 43302769 single base substitution G A intron_variant MELA-AU 7 43302776 43302776 single base substitution G A downstream_gene_variant MELA-AU 7 43302776 43302776 single base substitution G A intron_variant MELA-AU 7 43302944 43302944 single base substitution A T downstream_gene_variant MELA-AU 7 43302944 43302944 single base substitution A T intron_variant MELA-AU 7 43303251 43303251 single base substitution C T downstream_gene_variant MELA-AU 7 43303251 43303251 single base substitution C T intron_variant MELA-AU 7 43303404 43303404 single base substitution G A intron_variant MELA-AU 7 43303501 43303501 single base substitution C T intron_variant MELA-AU 7 43303571 43303571 single base substitution G A intron_variant MELA-AU 7 43303599 43303599 single base substitution G A intron_variant MELA-AU 7 43303880 43303880 single base substitution C T intron_variant MELA-AU 7 43304027 43304027 single base substitution C T intron_variant MELA-AU 7 43304126 43304126 single base substitution G A intron_variant MELA-AU 7 43304153 43304153 single base substitution T C intron_variant MELA-AU 7 43304397 43304397 single base substitution C T intron_variant MELA-AU 7 43304430 43304430 single base substitution G A intron_variant MELA-AU 7 43304437 43304438 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 43304890 43304890 single base substitution G A intron_variant MELA-AU 7 43304965 43304965 single base substitution G A intron_variant MELA-AU 7 43305180 43305180 single base substitution C T intron_variant MELA-AU 7 43305260 43305260 single base substitution C T intron_variant MELA-AU 7 43305415 43305415 single base substitution G A intron_variant MELA-AU 7 43305435 43305436 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 43305586 43305586 single base substitution C T intron_variant MELA-AU 7 43305809 43305810 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 43306025 43306025 single base substitution C T intron_variant MELA-AU 7 43306033 43306033 single base substitution C T intron_variant MELA-AU 7 43306124 43306124 single base substitution G A intron_variant MELA-AU 7 43306237 43306237 single base substitution G A intron_variant MELA-AU 7 43306428 43306428 single base substitution G T intron_variant MELA-AU 7 43306571 43306571 single base substitution G A intron_variant MELA-AU 7 43306578 43306578 single base substitution G A intron_variant MELA-AU 7 43306707 43306707 single base substitution A T intron_variant MELA-AU 7 43306780 43306780 single base substitution C T intron_variant MELA-AU 7 43306855 43306855 single base substitution C T intron_variant MELA-AU 7 43306966 43306966 single base substitution G A intron_variant MELA-AU 7 43307060 43307060 single base substitution G A intron_variant MELA-AU 7 43307157 43307157 single base substitution G A intron_variant MELA-AU 7 43307236 43307236 single base substitution T C intron_variant MELA-AU 7 43307412 43307412 single base substitution G A intron_variant MELA-AU 7 43308033 43308033 single base substitution G A intron_variant MELA-AU 7 43308127 43308127 single base substitution G A intron_variant MELA-AU 7 43308246 43308246 single base substitution G A intron_variant MELA-AU 7 43308573 43308573 single base substitution G A intron_variant MELA-AU 7 43308661 43308661 single base substitution C T intron_variant MELA-AU 7 43308676 43308676 single base substitution C T intron_variant MELA-AU 7 43308692 43308692 single base substitution G A intron_variant MELA-AU 7 43308833 43308833 single base substitution G A intron_variant MELA-AU 7 43308841 43308841 single base substitution C T intron_variant MELA-AU 7 43308869 43308869 single base substitution C T intron_variant MELA-AU 7 43308957 43308957 single base substitution C A intron_variant MELA-AU 7 43308963 43308963 single base substitution C T intron_variant MELA-AU 7 43309175 43309175 single base substitution G A intron_variant MELA-AU 7 43309194 43309194 single base substitution G A intron_variant MELA-AU 7 43309204 43309204 single base substitution G A intron_variant MELA-AU 7 43309571 43309571 single base substitution C T intron_variant MELA-AU 7 43309687 43309687 single base substitution C T intron_variant MELA-AU 7 43310008 43310008 single base substitution C T intron_variant MELA-AU 7 43310287 43310287 single base substitution C T intron_variant MELA-AU 7 43310541 43310541 single base substitution C T intron_variant MELA-AU 7 43310562 43310562 single base substitution G A intron_variant MELA-AU 7 43310626 43310626 single base substitution C T intron_variant MELA-AU 7 43310761 43310761 single base substitution G A intron_variant MELA-AU 7 43310885 43310885 single base substitution C T intron_variant MELA-AU 7 43310972 43310972 single base substitution G A intron_variant MELA-AU 7 43310981 43310981 single base substitution G A intron_variant MELA-AU 7 43310993 43310993 single base substitution C T intron_variant MELA-AU 7 43310999 43310999 single base substitution G A intron_variant MELA-AU 7 43311139 43311139 single base substitution C T intron_variant MELA-AU 7 43311275 43311275 single base substitution A T intron_variant MELA-AU 7 43311281 43311281 single base substitution G A intron_variant MELA-AU 7 43311427 43311427 single base substitution T G intron_variant MELA-AU 7 43311458 43311458 single base substitution C T intron_variant MELA-AU 7 43311645 43311645 single base substitution C T intron_variant MELA-AU 7 43311698 43311698 single base substitution G A intron_variant MELA-AU 7 43311757 43311757 single base substitution G A intron_variant MELA-AU 7 43311816 43311816 single base substitution C T intron_variant MELA-AU 7 43312002 43312002 single base substitution G A intron_variant MELA-AU 7 43312005 43312005 single base substitution T C intron_variant MELA-AU 7 43312208 43312208 single base substitution C T intron_variant MELA-AU 7 43312366 43312366 single base substitution C T intron_variant MELA-AU 7 43312372 43312372 single base substitution G A intron_variant MELA-AU 7 43312408 43312408 single base substitution C T intron_variant MELA-AU 7 43312432 43312432 single base substitution G A intron_variant MELA-AU 7 43312843 43312843 single base substitution G A intron_variant MELA-AU 7 43313037 43313037 single base substitution C T intron_variant MELA-AU 7 43313205 43313205 single base substitution C T intron_variant MELA-AU 7 43313300 43313300 single base substitution G A intron_variant MELA-AU 7 43313376 43313376 single base substitution G A intron_variant MELA-AU 7 43313543 43313543 single base substitution C T intron_variant MELA-AU 7 43313586 43313586 single base substitution G A intron_variant MELA-AU 7 43313669 43313669 single base substitution C T intron_variant MELA-AU 7 43313814 43313814 single base substitution C T intron_variant MELA-AU 7 43313979 43313979 single base substitution G A intron_variant MELA-AU 7 43314043 43314043 single base substitution G A intron_variant MELA-AU 7 43314087 43314087 single base substitution C T intron_variant MELA-AU 7 43314306 43314306 single base substitution G A intron_variant MELA-AU 7 43314558 43314558 single base substitution C T intron_variant MELA-AU 7 43314824 43314824 single base substitution G A intron_variant MELA-AU 7 43314991 43314991 single base substitution G A intron_variant MELA-AU 7 43315210 43315210 single base substitution C T intron_variant MELA-AU 7 43315266 43315266 single base substitution C T intron_variant MELA-AU 7 43315616 43315616 single base substitution G A intron_variant MELA-AU 7 43315728 43315728 single base substitution C T intron_variant MELA-AU 7 43315876 43315876 single base substitution C T intron_variant MELA-AU 7 43315950 43315950 single base substitution G A intron_variant MELA-AU 7 43315957 43315957 single base substitution C T intron_variant MELA-AU 7 43315971 43315971 single base substitution C T intron_variant MELA-AU 7 43316276 43316277 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 43316333 43316333 single base substitution G A intron_variant MELA-AU 7 43316366 43316366 single base substitution C T intron_variant MELA-AU 7 43316379 43316379 single base substitution G A intron_variant MELA-AU 7 43316672 43316672 single base substitution C A intron_variant MELA-AU 7 43316887 43316887 single base substitution C T intron_variant MELA-AU 7 43316939 43316939 single base substitution C T intron_variant MELA-AU 7 43317243 43317243 single base substitution C T intron_variant MELA-AU 7 43317407 43317407 single base substitution G A intron_variant MELA-AU 7 43317413 43317413 single base substitution C T intron_variant MELA-AU 7 43317428 43317428 single base substitution C T intron_variant MELA-AU 7 43317473 43317473 single base substitution G A intron_variant MELA-AU 7 43317526 43317526 single base substitution C T intron_variant MELA-AU 7 43317539 43317539 single base substitution C T intron_variant MELA-AU 7 43317555 43317555 single base substitution C T intron_variant MELA-AU 7 43317561 43317561 single base substitution T C intron_variant MELA-AU 7 43317659 43317659 single base substitution G A intron_variant MELA-AU 7 43317720 43317720 single base substitution G A intron_variant MELA-AU 7 43317745 43317745 single base substitution C T intron_variant MELA-AU 7 43317818 43317818 single base substitution G A intron_variant MELA-AU 7 43317852 43317852 single base substitution G A intron_variant MELA-AU 7 43317859 43317859 single base substitution G A intron_variant MELA-AU 7 43317863 43317863 single base substitution C T intron_variant MELA-AU 7 43318024 43318024 single base substitution C T intron_variant MELA-AU 7 43318055 43318055 single base substitution C T intron_variant MELA-AU 7 43318057 43318057 single base substitution C T intron_variant MELA-AU 7 43318064 43318064 single base substitution C T intron_variant MELA-AU 7 43318177 43318177 single base substitution C T intron_variant MELA-AU 7 43318193 43318193 single base substitution G A intron_variant MELA-AU 7 43318202 43318202 single base substitution C T intron_variant MELA-AU 7 43318295 43318295 single base substitution C T intron_variant MELA-AU 7 43318427 43318427 single base substitution C T intron_variant MELA-AU 7 43318716 43318716 single base substitution C T intron_variant MELA-AU 7 43318981 43318981 single base substitution C T intron_variant MELA-AU 7 43319065 43319065 single base substitution G A intron_variant MELA-AU 7 43319066 43319066 single base substitution T G intron_variant MELA-AU 7 43319100 43319100 single base substitution C G intron_variant MELA-AU 7 43319115 43319115 single base substitution C T intron_variant MELA-AU 7 43319163 43319163 single base substitution G A intron_variant MELA-AU 7 43319176 43319176 single base substitution C T intron_variant MELA-AU 7 43319310 43319310 single base substitution T C intron_variant MELA-AU 7 43319335 43319335 single base substitution C T intron_variant MELA-AU 7 43319345 43319345 single base substitution G T intron_variant MELA-AU 7 43319680 43319680 single base substitution G A intron_variant MELA-AU 7 43319779 43319779 single base substitution G A intron_variant MELA-AU 7 43319788 43319788 single base substitution C T intron_variant MELA-AU 7 43319851 43319851 single base substitution G A intron_variant MELA-AU 7 43319862 43319862 single base substitution C T intron_variant MELA-AU 7 43319982 43319982 single base substitution G A intron_variant MELA-AU 7 43320263 43320263 single base substitution C T intron_variant MELA-AU 7 43320515 43320515 single base substitution G A intron_variant MELA-AU 7 43320572 43320572 single base substitution C T intron_variant MELA-AU 7 43320683 43320683 single base substitution G A intron_variant MELA-AU 7 43320733 43320733 single base substitution C T intron_variant MELA-AU 7 43320766 43320766 single base substitution G A intron_variant MELA-AU 7 43320809 43320809 single base substitution C T intron_variant MELA-AU 7 43321044 43321044 single base substitution C T intron_variant MELA-AU 7 43321055 43321055 single base substitution G A intron_variant MELA-AU 7 43321182 43321182 single base substitution C T intron_variant MELA-AU 7 43321430 43321430 single base substitution G A intron_variant MELA-AU 7 43321599 43321599 single base substitution C T intron_variant MELA-AU 7 43321714 43321715 multiple base substitution (>=2bp and <=200bp) AC GA intron_variant MELA-AU 7 43321778 43321778 single base substitution G A intron_variant MELA-AU 7 43321872 43321872 single base substitution G A intron_variant MELA-AU 7 43321941 43321941 single base substitution C T intron_variant MELA-AU 7 43321992 43321992 single base substitution G A intron_variant MELA-AU 7 43322082 43322082 single base substitution C T intron_variant MELA-AU 7 43322169 43322169 single base substitution G A intron_variant MELA-AU 7 43322420 43322420 single base substitution G A intron_variant MELA-AU 7 43322496 43322496 single base substitution C T intron_variant MELA-AU 7 43322754 43322754 single base substitution C T intron_variant MELA-AU 7 43322821 43322821 single base substitution A G intron_variant MELA-AU 7 43322885 43322885 single base substitution G A intron_variant MELA-AU 7 43322976 43322976 single base substitution C T intron_variant MELA-AU 7 43323049 43323049 single base substitution G A intron_variant MELA-AU 7 43323239 43323239 single base substitution G A intron_variant MELA-AU 7 43323254 43323254 single base substitution A T intron_variant MELA-AU 7 43323338 43323338 single base substitution G A intron_variant MELA-AU 7 43323363 43323363 single base substitution G A intron_variant MELA-AU 7 43323367 43323367 single base substitution A C intron_variant MELA-AU 7 43323396 43323396 single base substitution G A intron_variant MELA-AU 7 43323512 43323512 single base substitution C T intron_variant MELA-AU 7 43323513 43323513 single base substitution C T intron_variant MELA-AU 7 43323672 43323672 single base substitution C T intron_variant MELA-AU 7 43323763 43323763 single base substitution C T intron_variant MELA-AU 7 43323790 43323790 single base substitution C T intron_variant MELA-AU 7 43323791 43323791 single base substitution C T intron_variant MELA-AU 7 43323794 43323794 single base substitution G A intron_variant MELA-AU 7 43323983 43323983 single base substitution G T intron_variant MELA-AU 7 43324138 43324138 single base substitution G A intron_variant MELA-AU 7 43324146 43324146 single base substitution G A intron_variant MELA-AU 7 43324150 43324150 single base substitution G A intron_variant MELA-AU 7 43324151 43324151 single base substitution G A intron_variant MELA-AU 7 43324367 43324367 single base substitution T C intron_variant MELA-AU 7 43324387 43324387 single base substitution C T intron_variant MELA-AU 7 43324400 43324400 single base substitution A C intron_variant MELA-AU 7 43324618 43324618 single base substitution G A intron_variant MELA-AU 7 43324665 43324665 single base substitution A G intron_variant MELA-AU 7 43324808 43324808 single base substitution T G intron_variant MELA-AU 7 43324869 43324869 single base substitution C A intron_variant MELA-AU 7 43324907 43324907 single base substitution G A intron_variant MELA-AU 7 43324911 43324911 single base substitution C T intron_variant MELA-AU 7 43325005 43325005 single base substitution C T intron_variant MELA-AU 7 43325184 43325184 single base substitution G A intron_variant MELA-AU 7 43325258 43325258 single base substitution A T intron_variant MELA-AU 7 43325374 43325374 single base substitution C A intron_variant MELA-AU 7 43325453 43325453 single base substitution G A intron_variant MELA-AU 7 43325552 43325552 single base substitution G A intron_variant MELA-AU 7 43325660 43325660 single base substitution C T intron_variant MELA-AU 7 43325747 43325747 single base substitution G A intron_variant MELA-AU 7 43325751 43325751 single base substitution G A intron_variant MELA-AU 7 43325760 43325761 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 7 43325961 43325961 single base substitution C T intron_variant MELA-AU 7 43326042 43326042 single base substitution C T intron_variant MELA-AU 7 43326220 43326220 single base substitution C T intron_variant MELA-AU 7 43326589 43326589 single base substitution C T intron_variant MELA-AU 7 43326614 43326614 single base substitution G A intron_variant MELA-AU 7 43326732 43326732 single base substitution G A intron_variant MELA-AU 7 43326735 43326735 single base substitution T C intron_variant MELA-AU 7 43326786 43326786 single base substitution G A intron_variant MELA-AU 7 43326930 43326930 single base substitution C T intron_variant MELA-AU 7 43326946 43326946 single base substitution G A intron_variant MELA-AU 7 43326994 43326994 single base substitution G A intron_variant MELA-AU 7 43327051 43327051 single base substitution G A intron_variant MELA-AU 7 43327207 43327207 single base substitution G A intron_variant MELA-AU 7 43327239 43327239 single base substitution G A intron_variant MELA-AU 7 43327415 43327415 single base substitution G A intron_variant MELA-AU 7 43328413 43328413 single base substitution C T intron_variant MELA-AU 7 43328663 43328663 single base substitution C T intron_variant MELA-AU 7 43328734 43328734 single base substitution G A intron_variant MELA-AU 7 43328825 43328825 single base substitution C G intron_variant MELA-AU 7 43329112 43329112 single base substitution G A intron_variant MELA-AU 7 43329157 43329157 single base substitution G A intron_variant MELA-AU 7 43329182 43329182 single base substitution C T intron_variant MELA-AU 7 43329222 43329222 single base substitution G A intron_variant MELA-AU 7 43329279 43329279 single base substitution T C intron_variant MELA-AU 7 43329349 43329349 single base substitution C T intron_variant MELA-AU 7 43329383 43329383 single base substitution G A intron_variant MELA-AU 7 43329490 43329490 single base substitution G A intron_variant MELA-AU 7 43329499 43329499 single base substitution G A intron_variant MELA-AU 7 43329674 43329674 single base substitution C T intron_variant MELA-AU 7 43329781 43329781 single base substitution C T intron_variant MELA-AU 7 43330208 43330208 single base substitution C T intron_variant MELA-AU 7 43330284 43330284 single base substitution G A intron_variant MELA-AU 7 43330305 43330305 single base substitution C T intron_variant MELA-AU 7 43330414 43330414 single base substitution G A intron_variant MELA-AU 7 43330464 43330464 single base substitution G A intron_variant MELA-AU 7 43330470 43330470 single base substitution C T intron_variant MELA-AU 7 43330503 43330503 single base substitution G A intron_variant MELA-AU 7 43330543 43330543 single base substitution G A intron_variant MELA-AU 7 43330820 43330821 multiple base substitution (>=2bp and <=200bp) GA AG intron_variant MELA-AU 7 43330839 43330839 single base substitution G A intron_variant MELA-AU 7 43330987 43330987 single base substitution G A intron_variant MELA-AU 7 43331070 43331070 single base substitution T G intron_variant MELA-AU 7 43331098 43331098 single base substitution G A intron_variant MELA-AU 7 43331141 43331141 single base substitution G A intron_variant MELA-AU 7 43331230 43331230 single base substitution G A intron_variant MELA-AU 7 43331251 43331251 single base substitution G A intron_variant MELA-AU 7 43331252 43331252 single base substitution G A intron_variant MELA-AU 7 43331280 43331280 single base substitution T G intron_variant MELA-AU 7 43331394 43331394 single base substitution G A intron_variant MELA-AU 7 43331623 43331623 single base substitution C T intron_variant MELA-AU 7 43331762 43331762 single base substitution T G intron_variant MELA-AU 7 43331789 43331789 single base substitution G A intron_variant MELA-AU 7 43331973 43331973 single base substitution G A intron_variant MELA-AU 7 43331974 43331974 single base substitution C T intron_variant MELA-AU 7 43332007 43332007 single base substitution G A intron_variant MELA-AU 7 43332143 43332143 single base substitution C T intron_variant MELA-AU 7 43332175 43332175 single base substitution G A intron_variant MELA-AU 7 43332348 43332348 single base substitution C T intron_variant MELA-AU 7 43332478 43332478 single base substitution G A intron_variant MELA-AU 7 43332625 43332625 single base substitution C T intron_variant MELA-AU 7 43332673 43332673 single base substitution G A intron_variant MELA-AU 7 43332861 43332861 single base substitution G A intron_variant MELA-AU 7 43332913 43332913 single base substitution G A intron_variant MELA-AU 7 43332955 43332955 single base substitution C T intron_variant MELA-AU 7 43333371 43333371 single base substitution G A intron_variant MELA-AU 7 43333407 43333407 single base substitution C T intron_variant MELA-AU 7 43333513 43333513 single base substitution C T intron_variant MELA-AU 7 43333547 43333547 single base substitution C T intron_variant MELA-AU 7 43333618 43333618 single base substitution C T intron_variant MELA-AU 7 43333926 43333926 single base substitution C T intron_variant MELA-AU 7 43333927 43333927 single base substitution C T intron_variant MELA-AU 7 43333963 43333963 single base substitution C T intron_variant MELA-AU 7 43333970 43333970 single base substitution G A intron_variant MELA-AU 7 43333978 43333978 single base substitution G A intron_variant MELA-AU 7 43334173 43334173 single base substitution C T intron_variant MELA-AU 7 43334175 43334175 single base substitution G A intron_variant MELA-AU 7 43334229 43334229 single base substitution G A intron_variant MELA-AU 7 43334382 43334382 single base substitution C T intron_variant MELA-AU 7 43334435 43334435 single base substitution G A intron_variant MELA-AU 7 43334845 43334845 single base substitution G A intron_variant MELA-AU 7 43335036 43335036 single base substitution C T intron_variant MELA-AU 7 43335173 43335173 single base substitution C T intron_variant MELA-AU 7 43335290 43335290 single base substitution C T intron_variant MELA-AU 7 43335314 43335314 single base substitution G A intron_variant MELA-AU 7 43335557 43335557 single base substitution C T intron_variant MELA-AU 7 43336035 43336035 single base substitution C T intron_variant MELA-AU 7 43336233 43336233 single base substitution C T intron_variant MELA-AU 7 43336559 43336559 single base substitution G A intron_variant MELA-AU 7 43336677 43336677 single base substitution G A intron_variant MELA-AU 7 43336940 43336940 single base substitution C T intron_variant MELA-AU 7 43337610 43337610 single base substitution T G intron_variant MELA-AU 7 43337676 43337676 single base substitution G A intron_variant MELA-AU 7 43337684 43337684 single base substitution G A intron_variant MELA-AU 7 43337685 43337685 single base substitution G A intron_variant MELA-AU 7 43337768 43337768 single base substitution C T intron_variant MELA-AU 7 43337823 43337823 single base substitution C T intron_variant MELA-AU 7 43337848 43337848 single base substitution G A intron_variant MELA-AU 7 43337890 43337890 single base substitution G A intron_variant MELA-AU 7 43337899 43337899 single base substitution C T intron_variant MELA-AU 7 43337945 43337945 single base substitution C T intron_variant MELA-AU 7 43337998 43337998 single base substitution G A intron_variant MELA-AU 7 43338138 43338138 single base substitution G A intron_variant MELA-AU 7 43338274 43338274 single base substitution C T intron_variant MELA-AU 7 43338281 43338281 single base substitution C T intron_variant MELA-AU 7 43338299 43338299 single base substitution C T intron_variant MELA-AU 7 43338433 43338433 single base substitution C T intron_variant MELA-AU 7 43338435 43338435 single base substitution C T intron_variant MELA-AU 7 43338463 43338463 single base substitution T C intron_variant MELA-AU 7 43338468 43338468 single base substitution C T intron_variant MELA-AU 7 43338516 43338516 single base substitution G A intron_variant MELA-AU 7 43338563 43338563 single base substitution C T intron_variant MELA-AU 7 43338576 43338576 single base substitution G A intron_variant MELA-AU 7 43338626 43338626 single base substitution G A intron_variant MELA-AU 7 43338627 43338627 single base substitution G A intron_variant MELA-AU 7 43338656 43338656 single base substitution G A intron_variant MELA-AU 7 43338959 43338959 single base substitution G A intron_variant MELA-AU 7 43338981 43338982 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 43339011 43339011 single base substitution G A intron_variant MELA-AU 7 43339351 43339351 single base substitution G A intron_variant MELA-AU 7 43339361 43339361 single base substitution G A intron_variant MELA-AU 7 43339746 43339746 single base substitution C A intron_variant MELA-AU 7 43339981 43339981 single base substitution G A intron_variant MELA-AU 7 43339986 43339986 single base substitution G A intron_variant MELA-AU 7 43339999 43339999 single base substitution G A intron_variant MELA-AU 7 43340069 43340069 single base substitution G A intron_variant MELA-AU 7 43340114 43340114 single base substitution T A intron_variant MELA-AU 7 43340391 43340391 single base substitution C T intron_variant MELA-AU 7 43340414 43340414 single base substitution T G intron_variant MELA-AU 7 43340441 43340441 single base substitution G A intron_variant MELA-AU 7 43340494 43340494 single base substitution G T intron_variant MELA-AU 7 43340653 43340653 single base substitution C T intron_variant MELA-AU 7 43340677 43340677 single base substitution G A intron_variant MELA-AU 7 43340719 43340719 single base substitution C T intron_variant MELA-AU 7 43340724 43340724 single base substitution G A intron_variant MELA-AU 7 43340934 43340934 single base substitution C T intron_variant MELA-AU 7 43340944 43340944 single base substitution C T intron_variant MELA-AU 7 43341070 43341070 single base substitution C T intron_variant MELA-AU 7 43341207 43341207 single base substitution G A intron_variant MELA-AU 7 43341291 43341291 single base substitution G A intron_variant MELA-AU 7 43341358 43341358 single base substitution C T intron_variant MELA-AU 7 43341401 43341401 single base substitution G A intron_variant MELA-AU 7 43341517 43341517 single base substitution G A intron_variant MELA-AU 7 43341609 43341609 single base substitution T A intron_variant MELA-AU 7 43341761 43341761 single base substitution G A intron_variant MELA-AU 7 43341920 43341920 single base substitution C T intron_variant MELA-AU 7 43342027 43342027 single base substitution C T intron_variant MELA-AU 7 43342236 43342236 single base substitution G A intron_variant MELA-AU 7 43342261 43342261 single base substitution C T intron_variant MELA-AU 7 43342315 43342315 single base substitution C T intron_variant MELA-AU 7 43342451 43342451 single base substitution G A intron_variant MELA-AU 7 43342590 43342590 single base substitution C T intron_variant MELA-AU 7 43342688 43342688 single base substitution C T intron_variant MELA-AU 7 43342736 43342736 single base substitution A G intron_variant MELA-AU 7 43342945 43342945 single base substitution C T intron_variant MELA-AU 7 43343107 43343107 single base substitution T G intron_variant MELA-AU 7 43343157 43343157 single base substitution C T intron_variant MELA-AU 7 43343161 43343161 single base substitution C T intron_variant MELA-AU 7 43343399 43343399 single base substitution C T intron_variant MELA-AU 7 43343638 43343638 single base substitution A T intron_variant MELA-AU 7 43343842 43343842 single base substitution C T intron_variant MELA-AU 7 43343861 43343862 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 43343925 43343925 single base substitution G A intron_variant MELA-AU 7 43344058 43344058 single base substitution G A intron_variant MELA-AU 7 43344107 43344107 single base substitution C T intron_variant MELA-AU 7 43344134 43344134 single base substitution G A intron_variant MELA-AU 7 43344284 43344284 single base substitution G A intron_variant MELA-AU 7 43344844 43344844 single base substitution C T intron_variant MELA-AU 7 43344943 43344943 single base substitution T A intron_variant MELA-AU 7 43345095 43345095 single base substitution C T intron_variant MELA-AU 7 43345109 43345109 single base substitution G A intron_variant MELA-AU 7 43345294 43345294 single base substitution G A intron_variant MELA-AU 7 43345383 43345383 single base substitution G A intron_variant MELA-AU 7 43345450 43345450 single base substitution C T intron_variant MELA-AU 7 43345494 43345494 single base substitution G A intron_variant MELA-AU 7 43345579 43345579 single base substitution G A intron_variant MELA-AU 7 43345600 43345600 single base substitution C T intron_variant MELA-AU 7 43345698 43345698 single base substitution G A intron_variant MELA-AU 7 43345952 43345952 single base substitution C T intron_variant MELA-AU 7 43345997 43345997 single base substitution C T intron_variant MELA-AU 7 43345997 43345998 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 43346176 43346176 single base substitution G C intron_variant MELA-AU 7 43346363 43346363 single base substitution A T intron_variant MELA-AU 7 43346435 43346448 deletion of <=200bp TTCTGCTTTTAAGA - intron_variant MELA-AU 7 43346583 43346583 single base substitution C T intron_variant MELA-AU 7 43346651 43346651 single base substitution C T intron_variant MELA-AU 7 43346742 43346742 single base substitution T C intron_variant MELA-AU 7 43346768 43346768 single base substitution C T intron_variant MELA-AU 7 43346807 43346807 single base substitution G A intron_variant MELA-AU 7 43347056 43347056 single base substitution G A intron_variant MELA-AU 7 43347101 43347101 single base substitution G A intron_variant MELA-AU 7 43347130 43347130 single base substitution A C intron_variant MELA-AU 7 43347138 43347138 single base substitution G T intron_variant MELA-AU 7 43347487 43347487 single base substitution A C intron_variant MELA-AU 7 43347490 43347490 single base substitution T C intron_variant MELA-AU 7 43348491 43348491 single base substitution G A intron_variant MELA-AU 7 43348649 43348649 single base substitution G A intron_variant MELA-AU 7 43348674 43348674 single base substitution G A intron_variant MELA-AU 7 43348887 43348887 single base substitution G C intron_variant MELA-AU 7 43348900 43348900 single base substitution G A intron_variant MELA-AU 7 43348919 43348919 single base substitution G A intron_variant MELA-AU 7 43348949 43348949 single base substitution G A intron_variant MELA-AU 7 43349226 43349226 single base substitution T G intron_variant MELA-AU 7 43349259 43349259 single base substitution G A intron_variant MELA-AU 7 43349266 43349266 single base substitution C T intron_variant MELA-AU 7 43349290 43349290 single base substitution C T intron_variant MELA-AU 7 43349668 43349668 single base substitution G A intron_variant MELA-AU 7 43349744 43349744 single base substitution G A intron_variant MELA-AU 7 43350035 43350035 single base substitution G A intron_variant MELA-AU 7 43350630 43350630 single base substitution G A intron_variant MELA-AU 7 43350726 43350726 single base substitution G A intron_variant MELA-AU 7 43350726 43350727 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 43350727 43350727 single base substitution G A intron_variant MELA-AU 7 43350880 43350880 single base substitution G A intron_variant MELA-AU 7 43350910 43350910 single base substitution G A intron_variant MELA-AU 7 43351178 43351178 single base substitution C T intron_variant MELA-AU 7 43351200 43351200 single base substitution C T intron_variant MELA-AU 7 43351275 43351275 single base substitution C T intron_variant MELA-AU 7 43351289 43351289 single base substitution C T intron_variant MELA-AU 7 43351453 43351453 single base substitution G A exon_variant MELA-AU 7 43351453 43351453 single base substitution G A missense_variant R40Q 119G>A MELA-AU 7 43351469 43351469 single base substitution C T exon_variant MELA-AU 7 43351469 43351469 single base substitution C T synonymous_variant P45P 135C>T MELA-AU 7 43351527 43351527 single base substitution C T exon_variant MELA-AU 7 43351527 43351527 single base substitution C T missense_variant R65C 193C>T MELA-AU 7 43351539 43351539 single base substitution G A exon_variant MELA-AU 7 43351539 43351539 single base substitution G A missense_variant D69N 205G>A MELA-AU 7 43351553 43351553 single base substitution C T exon_variant MELA-AU 7 43351553 43351553 single base substitution C T synonymous_variant V73V 219C>T MELA-AU 7 43352118 43352118 single base substitution T A downstream_gene_variant MELA-AU 7 43352118 43352118 single base substitution T A intron_variant MELA-AU 7 43352204 43352204 single base substitution G A downstream_gene_variant MELA-AU 7 43352204 43352204 single base substitution G A intron_variant MELA-AU 7 43352228 43352228 single base substitution C T downstream_gene_variant MELA-AU 7 43352228 43352228 single base substitution C T intron_variant MELA-AU 7 43352385 43352385 single base substitution G A downstream_gene_variant MELA-AU 7 43352385 43352385 single base substitution G A intron_variant MELA-AU 7 43352508 43352508 single base substitution G A downstream_gene_variant MELA-AU 7 43352508 43352508 single base substitution G A intron_variant MELA-AU 7 43352519 43352519 single base substitution G A downstream_gene_variant MELA-AU 7 43352519 43352519 single base substitution G A intron_variant MELA-AU 7 43352830 43352830 single base substitution G A downstream_gene_variant MELA-AU 7 43352830 43352830 single base substitution G A intron_variant MELA-AU 7 43353035 43353035 single base substitution C T downstream_gene_variant MELA-AU 7 43353035 43353035 single base substitution C T intron_variant MELA-AU 7 43353231 43353231 single base substitution C T downstream_gene_variant MELA-AU 7 43353231 43353231 single base substitution C T intron_variant MELA-AU 7 43353377 43353377 single base substitution C T downstream_gene_variant MELA-AU 7 43353377 43353377 single base substitution C T intron_variant MELA-AU 7 43353608 43353608 single base substitution G A downstream_gene_variant MELA-AU 7 43353608 43353608 single base substitution G A intron_variant MELA-AU 7 43353786 43353786 single base substitution G A downstream_gene_variant MELA-AU 7 43353786 43353786 single base substitution G A intron_variant MELA-AU 7 43353837 43353837 single base substitution G A downstream_gene_variant MELA-AU 7 43353837 43353837 single base substitution G A intron_variant MELA-AU 7 43353941 43353941 single base substitution G A downstream_gene_variant MELA-AU 7 43353941 43353941 single base substitution G A intron_variant MELA-AU 7 43353942 43353943 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 43353942 43353943 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 43354333 43354333 single base substitution A G downstream_gene_variant MELA-AU 7 43354333 43354333 single base substitution A G intron_variant MELA-AU 7 43354357 43354357 single base substitution G A downstream_gene_variant MELA-AU 7 43354357 43354357 single base substitution G A intron_variant MELA-AU 7 43354374 43354374 single base substitution T C downstream_gene_variant MELA-AU 7 43354374 43354374 single base substitution T C intron_variant MELA-AU 7 43354567 43354567 single base substitution C T downstream_gene_variant MELA-AU 7 43354567 43354567 single base substitution C T intron_variant MELA-AU 7 43354575 43354575 single base substitution C T downstream_gene_variant MELA-AU 7 43354575 43354575 single base substitution C T intron_variant MELA-AU 7 43354676 43354676 single base substitution G A downstream_gene_variant MELA-AU 7 43354676 43354676 single base substitution G A intron_variant MELA-AU 7 43354733 43354733 single base substitution G A downstream_gene_variant MELA-AU 7 43354733 43354733 single base substitution G A intron_variant MELA-AU 7 43355047 43355047 single base substitution C T downstream_gene_variant MELA-AU 7 43355047 43355047 single base substitution C T intron_variant MELA-AU 7 43355048 43355048 single base substitution C T downstream_gene_variant MELA-AU 7 43355048 43355048 single base substitution C T intron_variant MELA-AU 7 43355064 43355064 single base substitution G A downstream_gene_variant MELA-AU 7 43355064 43355064 single base substitution G A intron_variant MELA-AU 7 43355156 43355156 single base substitution G A downstream_gene_variant MELA-AU 7 43355156 43355156 single base substitution G A intron_variant MELA-AU 7 43355375 43355375 single base substitution G A downstream_gene_variant MELA-AU 7 43355375 43355375 single base substitution G A intron_variant MELA-AU 7 43355481 43355481 single base substitution G A downstream_gene_variant MELA-AU 7 43355481 43355481 single base substitution G A intron_variant MELA-AU 7 43355688 43355688 single base substitution G A downstream_gene_variant MELA-AU 7 43355688 43355688 single base substitution G A intron_variant MELA-AU 7 43355901 43355901 single base substitution G A downstream_gene_variant MELA-AU 7 43355901 43355901 single base substitution G A intron_variant MELA-AU 7 43355976 43355976 single base substitution C T downstream_gene_variant MELA-AU 7 43355976 43355976 single base substitution C T intron_variant MELA-AU 7 43356418 43356418 single base substitution C T downstream_gene_variant MELA-AU 7 43356418 43356418 single base substitution C T intron_variant MELA-AU 7 43356530 43356530 single base substitution G A downstream_gene_variant MELA-AU 7 43356530 43356530 single base substitution G A intron_variant MELA-AU 7 43356611 43356611 single base substitution G A intron_variant MELA-AU 7 43356794 43356794 single base substitution C T intron_variant MELA-AU 7 43357096 43357096 single base substitution C T intron_variant MELA-AU 7 43357140 43357140 single base substitution G A intron_variant MELA-AU 7 43357203 43357203 single base substitution A G intron_variant MELA-AU 7 43357505 43357505 single base substitution C T intron_variant MELA-AU 7 43357507 43357507 single base substitution C T intron_variant MELA-AU 7 43357517 43357517 single base substitution C T intron_variant MELA-AU 7 43357595 43357595 single base substitution C T intron_variant MELA-AU 7 43357698 43357699 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 43357787 43357787 single base substitution G A intron_variant MELA-AU 7 43357871 43357871 single base substitution T G intron_variant MELA-AU 7 43358034 43358034 single base substitution G A intron_variant MELA-AU 7 43358165 43358165 single base substitution C T intron_variant MELA-AU 7 43358173 43358173 single base substitution G A intron_variant MELA-AU 7 43358210 43358210 single base substitution G C intron_variant MELA-AU 7 43358450 43358450 single base substitution C T intron_variant MELA-AU 7 43358484 43358484 single base substitution C T intron_variant MELA-AU 7 43358575 43358575 single base substitution C T intron_variant MELA-AU 7 43358678 43358678 single base substitution C A intron_variant MELA-AU 7 43358715 43358715 single base substitution G A intron_variant MELA-AU 7 43358734 43358734 single base substitution C T intron_variant MELA-AU 7 43359093 43359093 single base substitution C T intron_variant MELA-AU 7 43359332 43359332 single base substitution G A intron_variant MELA-AU 7 43359410 43359410 single base substitution C T intron_variant MELA-AU 7 43359432 43359432 single base substitution G A intron_variant MELA-AU 7 43359456 43359456 single base substitution C T intron_variant MELA-AU 7 43359513 43359513 single base substitution C T intron_variant MELA-AU 7 43359542 43359542 single base substitution C T intron_variant MELA-AU 7 43359757 43359757 single base substitution G A intron_variant MELA-AU 7 43359767 43359767 single base substitution G A intron_variant MELA-AU 7 43359790 43359790 single base substitution G A intron_variant MELA-AU 7 43359827 43359827 single base substitution G A intron_variant MELA-AU 7 43359889 43359889 single base substitution G T intron_variant MELA-AU 7 43360031 43360031 single base substitution T C intron_variant MELA-AU 7 43360088 43360088 single base substitution C T intron_variant MELA-AU 7 43360293 43360293 single base substitution C T exon_variant MELA-AU 7 43360293 43360293 single base substitution C T missense_variant R138W 412C>T MELA-AU 7 43360721 43360721 single base substitution C T intron_variant MELA-AU 7 43360903 43360903 single base substitution C T intron_variant MELA-AU 7 43360961 43360961 single base substitution C T intron_variant MELA-AU 7 43360993 43360993 single base substitution G A intron_variant MELA-AU 7 43361061 43361061 single base substitution C T intron_variant MELA-AU 7 43361107 43361107 single base substitution G A intron_variant MELA-AU 7 43361171 43361171 single base substitution T A intron_variant MELA-AU 7 43361237 43361237 single base substitution G A intron_variant MELA-AU 7 43361401 43361401 single base substitution C T intron_variant MELA-AU 7 43361452 43361452 single base substitution G A intron_variant MELA-AU 7 43361548 43361548 single base substitution G A intron_variant MELA-AU 7 43361556 43361557 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 7 43361663 43361663 single base substitution A C intron_variant MELA-AU 7 43361816 43361816 single base substitution C A intron_variant MELA-AU 7 43361879 43361879 single base substitution G A intron_variant MELA-AU 7 43362077 43362077 single base substitution C T intron_variant MELA-AU 7 43362302 43362302 single base substitution C T intron_variant MELA-AU 7 43362349 43362349 single base substitution G A intron_variant MELA-AU 7 43362368 43362368 single base substitution C T intron_variant MELA-AU 7 43362395 43362395 single base substitution A C intron_variant MELA-AU 7 43362441 43362441 single base substitution C T intron_variant MELA-AU 7 43362443 43362443 single base substitution C T intron_variant MELA-AU 7 43362446 43362446 single base substitution T C intron_variant MELA-AU 7 43362581 43362581 single base substitution G A intron_variant MELA-AU 7 43362969 43362969 single base substitution G A intron_variant MELA-AU 7 43363011 43363011 single base substitution G A intron_variant MELA-AU 7 43363112 43363112 single base substitution G A intron_variant MELA-AU 7 43363158 43363158 single base substitution C T intron_variant MELA-AU 7 43363347 43363347 single base substitution C T intron_variant MELA-AU 7 43363349 43363349 single base substitution G A intron_variant MELA-AU 7 43363439 43363439 single base substitution C T intron_variant MELA-AU 7 43363541 43363541 single base substitution G A intron_variant MELA-AU 7 43363560 43363560 single base substitution G A intron_variant MELA-AU 7 43363576 43363576 single base substitution T C intron_variant MELA-AU 7 43363669 43363669 single base substitution C T intron_variant MELA-AU 7 43363762 43363762 single base substitution G A intron_variant MELA-AU 7 43363786 43363786 single base substitution G A intron_variant MELA-AU 7 43363842 43363842 single base substitution C T intron_variant MELA-AU 7 43364065 43364065 single base substitution G A intron_variant MELA-AU 7 43364298 43364298 single base substitution C T intron_variant MELA-AU 7 43364388 43364388 single base substitution G A intron_variant MELA-AU 7 43364399 43364399 single base substitution A C intron_variant MELA-AU 7 43364461 43364461 single base substitution C T intron_variant MELA-AU 7 43364641 43364641 single base substitution G A intron_variant MELA-AU 7 43364705 43364705 single base substitution G A intron_variant MELA-AU 7 43364707 43364707 single base substitution A G intron_variant MELA-AU 7 43364727 43364727 single base substitution C T intron_variant MELA-AU 7 43364751 43364751 single base substitution C T intron_variant MELA-AU 7 43364794 43364794 single base substitution A G intron_variant MELA-AU 7 43365210 43365210 single base substitution C T intron_variant MELA-AU 7 43365274 43365274 single base substitution G A intron_variant MELA-AU 7 43365301 43365301 single base substitution C T intron_variant MELA-AU 7 43365529 43365529 single base substitution C T intron_variant MELA-AU 7 43365586 43365586 single base substitution G A intron_variant MELA-AU 7 43365784 43365784 single base substitution C T intron_variant MELA-AU 7 43365890 43365890 single base substitution C A intron_variant MELA-AU 7 43365934 43365935 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 43365952 43365952 single base substitution C T intron_variant MELA-AU 7 43365955 43365955 single base substitution G A intron_variant MELA-AU 7 43366106 43366106 single base substitution C T intron_variant MELA-AU 7 43366109 43366109 single base substitution G A intron_variant MELA-AU 7 43366118 43366118 single base substitution C T intron_variant MELA-AU 7 43366462 43366462 single base substitution C T intron_variant MELA-AU 7 43366471 43366471 single base substitution G A intron_variant MELA-AU 7 43366544 43366544 single base substitution C T intron_variant MELA-AU 7 43366783 43366783 single base substitution G A intron_variant MELA-AU 7 43366947 43366947 single base substitution C T intron_variant MELA-AU 7 43367029 43367029 single base substitution C T intron_variant MELA-AU 7 43367138 43367138 single base substitution C T intron_variant MELA-AU 7 43367187 43367187 single base substitution T C intron_variant MELA-AU 7 43367218 43367218 single base substitution C T intron_variant MELA-AU 7 43367227 43367227 single base substitution C T intron_variant MELA-AU 7 43367368 43367368 single base substitution G A intron_variant MELA-AU 7 43367572 43367572 single base substitution T A intron_variant MELA-AU 7 43367588 43367588 single base substitution T C intron_variant MELA-AU 7 43367591 43367591 single base substitution C T intron_variant MELA-AU 7 43367594 43367594 single base substitution T C intron_variant MELA-AU 7 43367680 43367680 single base substitution G A intron_variant MELA-AU 7 43367766 43367766 single base substitution A T intron_variant MELA-AU 7 43367880 43367880 single base substitution G A intron_variant MELA-AU 7 43367918 43367918 single base substitution A C intron_variant MELA-AU 7 43367948 43367948 single base substitution C T intron_variant MELA-AU 7 43368107 43368107 single base substitution G A intron_variant MELA-AU 7 43368289 43368289 single base substitution T C intron_variant MELA-AU 7 43368329 43368329 single base substitution C T intron_variant MELA-AU 7 43368393 43368393 single base substitution C T intron_variant MELA-AU 7 43368441 43368441 single base substitution C T intron_variant MELA-AU 7 43369023 43369023 single base substitution C T intron_variant MELA-AU 7 43369151 43369151 single base substitution G A intron_variant MELA-AU 7 43369162 43369162 single base substitution G A intron_variant MELA-AU 7 43369685 43369685 single base substitution C T intron_variant MELA-AU 7 43369687 43369687 single base substitution C T intron_variant MELA-AU 7 43369767 43369767 single base substitution C T intron_variant MELA-AU 7 43369783 43369783 single base substitution A G intron_variant MELA-AU 7 43369854 43369854 single base substitution C T intron_variant MELA-AU 7 43370051 43370051 single base substitution G A intron_variant MELA-AU 7 43370163 43370163 single base substitution G A intron_variant MELA-AU 7 43370173 43370173 single base substitution G A intron_variant MELA-AU 7 43370294 43370294 single base substitution C T intron_variant MELA-AU 7 43370351 43370351 single base substitution G A intron_variant MELA-AU 7 43370389 43370389 single base substitution C T intron_variant MELA-AU 7 43370478 43370478 single base substitution G A intron_variant MELA-AU 7 43370585 43370585 single base substitution T C intron_variant MELA-AU 7 43370591 43370591 single base substitution A G intron_variant MELA-AU 7 43370614 43370614 single base substitution T C intron_variant MELA-AU 7 43370714 43370714 single base substitution C T intron_variant MELA-AU 7 43370900 43370900 single base substitution C T intron_variant MELA-AU 7 43370937 43370937 single base substitution C T intron_variant MELA-AU 7 43370985 43370985 single base substitution C T intron_variant MELA-AU 7 43371308 43371308 single base substitution G A intron_variant MELA-AU 7 43371357 43371357 single base substitution C T intron_variant MELA-AU 7 43371431 43371431 single base substitution G A intron_variant MELA-AU 7 43371465 43371465 single base substitution C T intron_variant MELA-AU 7 43371470 43371470 single base substitution G A intron_variant MELA-AU 7 43371654 43371654 single base substitution G A intron_variant MELA-AU 7 43371664 43371664 single base substitution G A intron_variant MELA-AU 7 43371780 43371780 single base substitution G A intron_variant MELA-AU 7 43372294 43372294 single base substitution G A intron_variant MELA-AU 7 43372308 43372308 single base substitution G A intron_variant MELA-AU 7 43372487 43372487 single base substitution C T intron_variant MELA-AU 7 43372573 43372573 single base substitution G A intron_variant MELA-AU 7 43372714 43372714 single base substitution G A intron_variant MELA-AU 7 43372766 43372766 single base substitution G A intron_variant MELA-AU 7 43372776 43372776 single base substitution G A intron_variant MELA-AU 7 43372997 43372997 single base substitution C T intron_variant MELA-AU 7 43373096 43373096 single base substitution G A intron_variant MELA-AU 7 43373261 43373261 single base substitution G A intron_variant MELA-AU 7 43373334 43373334 single base substitution G A intron_variant MELA-AU 7 43373336 43373337 multiple base substitution (>=2bp and <=200bp) TT GA intron_variant MELA-AU 7 43373360 43373360 single base substitution G A intron_variant MELA-AU 7 43373439 43373439 single base substitution C T intron_variant MELA-AU 7 43373637 43373637 single base substitution C T intron_variant MELA-AU 7 43373770 43373770 single base substitution C T intron_variant MELA-AU 7 43373817 43373817 single base substitution C T intron_variant MELA-AU 7 43373913 43373913 single base substitution C T intron_variant MELA-AU 7 43374020 43374020 single base substitution C T intron_variant MELA-AU 7 43374066 43374066 single base substitution G A intron_variant MELA-AU 7 43374167 43374167 single base substitution A T intron_variant MELA-AU 7 43374245 43374245 single base substitution A T intron_variant MELA-AU 7 43374262 43374262 single base substitution G A intron_variant MELA-AU 7 43374311 43374311 single base substitution C T intron_variant MELA-AU 7 43374492 43374492 single base substitution C T intron_variant MELA-AU 7 43374636 43374636 single base substitution C T intron_variant MELA-AU 7 43374637 43374637 single base substitution C T intron_variant MELA-AU 7 43375052 43375052 single base substitution C T intron_variant MELA-AU 7 43375053 43375053 single base substitution C T intron_variant MELA-AU 7 43375301 43375301 single base substitution C T intron_variant MELA-AU 7 43375315 43375315 single base substitution C T intron_variant MELA-AU 7 43375331 43375331 single base substitution C T intron_variant MELA-AU 7 43375347 43375347 single base substitution C T intron_variant MELA-AU 7 43375378 43375378 single base substitution C T intron_variant MELA-AU 7 43375417 43375417 single base substitution C T intron_variant MELA-AU 7 43375424 43375424 single base substitution C T intron_variant MELA-AU 7 43375460 43375460 single base substitution C T intron_variant MELA-AU 7 43375468 43375468 single base substitution C T intron_variant MELA-AU 7 43375478 43375478 single base substitution C T intron_variant MELA-AU 7 43375559 43375559 single base substitution C T intron_variant MELA-AU 7 43375564 43375564 single base substitution C T intron_variant MELA-AU 7 43375590 43375590 single base substitution C G intron_variant MELA-AU 7 43375590 43375590 single base substitution C T intron_variant MELA-AU 7 43375993 43375993 single base substitution C T intron_variant MELA-AU 7 43376209 43376209 single base substitution G A intron_variant MELA-AU 7 43376274 43376274 single base substitution A G intron_variant MELA-AU 7 43376294 43376294 single base substitution C T intron_variant MELA-AU 7 43376313 43376313 single base substitution C T intron_variant MELA-AU 7 43376455 43376455 single base substitution C T intron_variant MELA-AU 7 43376506 43376506 single base substitution C T intron_variant MELA-AU 7 43376583 43376583 single base substitution G A intron_variant MELA-AU 7 43376641 43376641 single base substitution C T intron_variant MELA-AU 7 43377080 43377080 single base substitution C T intron_variant MELA-AU 7 43377089 43377089 single base substitution G A intron_variant MELA-AU 7 43377187 43377187 single base substitution G A intron_variant MELA-AU 7 43377322 43377322 single base substitution C T intron_variant MELA-AU 7 43377381 43377381 single base substitution C T intron_variant MELA-AU 7 43377401 43377401 single base substitution G A intron_variant MELA-AU 7 43377473 43377473 single base substitution C T intron_variant MELA-AU 7 43377712 43377712 single base substitution G A intron_variant MELA-AU 7 43377819 43377819 single base substitution C T intron_variant MELA-AU 7 43377875 43377875 single base substitution G A intron_variant MELA-AU 7 43377977 43377977 single base substitution C T intron_variant MELA-AU 7 43378068 43378068 single base substitution C T intron_variant MELA-AU 7 43378083 43378083 single base substitution C T intron_variant MELA-AU 7 43378091 43378091 single base substitution T A intron_variant MELA-AU 7 43378150 43378150 single base substitution C T intron_variant MELA-AU 7 43378189 43378189 single base substitution C T intron_variant MELA-AU 7 43378361 43378361 single base substitution C T intron_variant MELA-AU 7 43378374 43378374 single base substitution C T intron_variant MELA-AU 7 43378476 43378476 single base substitution G A intron_variant MELA-AU 7 43378520 43378520 single base substitution C T intron_variant MELA-AU 7 43378638 43378638 single base substitution T A intron_variant MELA-AU 7 43378696 43378696 single base substitution C T intron_variant MELA-AU 7 43378702 43378702 single base substitution C T intron_variant MELA-AU 7 43378896 43378896 single base substitution C T intron_variant MELA-AU 7 43379034 43379034 single base substitution C T intron_variant MELA-AU 7 43379063 43379063 single base substitution C T intron_variant MELA-AU 7 43379333 43379333 single base substitution C T intron_variant MELA-AU 7 43379388 43379388 single base substitution C T intron_variant MELA-AU 7 43379399 43379399 single base substitution C T intron_variant MELA-AU 7 43379460 43379460 single base substitution C T intron_variant MELA-AU 7 43379477 43379477 single base substitution G A intron_variant MELA-AU 7 43379491 43379491 single base substitution C A intron_variant MELA-AU 7 43379496 43379496 single base substitution T C intron_variant MELA-AU 7 43379506 43379506 single base substitution T A intron_variant MELA-AU 7 43379614 43379614 single base substitution C T intron_variant MELA-AU 7 43379667 43379667 single base substitution C T intron_variant MELA-AU 7 43379795 43379795 single base substitution G A intron_variant MELA-AU 7 43379881 43379881 single base substitution G A intron_variant MELA-AU 7 43379955 43379955 single base substitution G A intron_variant MELA-AU 7 43380111 43380111 single base substitution C T intron_variant MELA-AU 7 43380351 43380351 single base substitution G A intron_variant MELA-AU 7 43380389 43380389 single base substitution C T intron_variant MELA-AU 7 43380399 43380399 single base substitution C T intron_variant MELA-AU 7 43380432 43380432 single base substitution C T intron_variant MELA-AU 7 43380744 43380744 single base substitution C T intron_variant MELA-AU 7 43380775 43380775 single base substitution G A intron_variant MELA-AU 7 43380777 43380777 single base substitution G A intron_variant MELA-AU 7 43380780 43380780 single base substitution G A intron_variant MELA-AU 7 43380781 43380781 single base substitution G A intron_variant MELA-AU 7 43380792 43380792 single base substitution G C intron_variant MELA-AU 7 43380949 43380949 single base substitution A C intron_variant MELA-AU 7 43381137 43381137 single base substitution C T intron_variant MELA-AU 7 43381331 43381331 single base substitution C T intron_variant MELA-AU 7 43381377 43381377 single base substitution C T intron_variant MELA-AU 7 43381555 43381555 single base substitution G A intron_variant MELA-AU 7 43381794 43381794 single base substitution C T intron_variant MELA-AU 7 43381917 43381917 single base substitution C T intron_variant MELA-AU 7 43382117 43382117 single base substitution A T intron_variant MELA-AU 7 43382145 43382145 single base substitution C T intron_variant MELA-AU 7 43382444 43382444 single base substitution G A intron_variant MELA-AU 7 43382558 43382558 single base substitution G A intron_variant MELA-AU 7 43382618 43382618 single base substitution C T intron_variant MELA-AU 7 43382954 43382954 single base substitution G A intron_variant MELA-AU 7 43383089 43383089 single base substitution C T intron_variant MELA-AU 7 43383129 43383130 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 43383171 43383171 single base substitution C T intron_variant MELA-AU 7 43383176 43383176 single base substitution C T intron_variant MELA-AU 7 43383488 43383488 single base substitution C T intron_variant MELA-AU 7 43383670 43383670 single base substitution G A intron_variant MELA-AU 7 43383757 43383757 single base substitution G A intron_variant MELA-AU 7 43384029 43384029 single base substitution T C intron_variant MELA-AU 7 43384150 43384150 single base substitution C T intron_variant MELA-AU 7 43384214 43384214 single base substitution C T intron_variant MELA-AU 7 43384258 43384258 single base substitution C T intron_variant MELA-AU 7 43384352 43384352 single base substitution C T intron_variant MELA-AU 7 43384405 43384405 single base substitution C T intron_variant MELA-AU 7 43384447 43384447 single base substitution C T intron_variant MELA-AU 7 43384468 43384468 single base substitution G A intron_variant MELA-AU 7 43385047 43385047 single base substitution C T intron_variant MELA-AU 7 43385173 43385173 single base substitution C T intron_variant MELA-AU 7 43385191 43385191 single base substitution C T intron_variant MELA-AU 7 43385230 43385230 single base substitution C T intron_variant MELA-AU 7 43385289 43385289 single base substitution C T intron_variant MELA-AU 7 43385359 43385359 single base substitution C T intron_variant MELA-AU 7 43385652 43385652 single base substitution C T intron_variant MELA-AU 7 43385704 43385704 single base substitution C T intron_variant MELA-AU 7 43385793 43385793 single base substitution G A intron_variant MELA-AU 7 43386184 43386185 multiple base substitution (>=2bp and <=200bp) GT TA intron_variant MELA-AU 7 43386206 43386206 single base substitution G A intron_variant MELA-AU 7 43386294 43386294 single base substitution C T intron_variant MELA-AU 7 43386339 43386339 single base substitution G A intron_variant MELA-AU 7 43386383 43386383 single base substitution G A intron_variant MELA-AU 7 43386645 43386645 single base substitution G A intron_variant MELA-AU 7 43386717 43386717 single base substitution C T intron_variant MELA-AU 7 43386831 43386831 single base substitution G A intron_variant MELA-AU 7 43386864 43386864 single base substitution T C intron_variant MELA-AU 7 43386912 43386912 single base substitution G A intron_variant MELA-AU 7 43386934 43386934 single base substitution G A intron_variant MELA-AU 7 43387051 43387051 single base substitution G A intron_variant MELA-AU 7 43387104 43387104 single base substitution T C intron_variant MELA-AU 7 43387193 43387193 single base substitution T C intron_variant MELA-AU 7 43387213 43387213 single base substitution G A intron_variant MELA-AU 7 43387296 43387296 single base substitution C T intron_variant MELA-AU 7 43387338 43387338 single base substitution G A intron_variant MELA-AU 7 43387398 43387398 single base substitution C A intron_variant MELA-AU 7 43387447 43387447 single base substitution C T intron_variant MELA-AU 7 43387456 43387456 single base substitution C T intron_variant MELA-AU 7 43387463 43387463 single base substitution A G intron_variant MELA-AU 7 43387696 43387696 single base substitution C T intron_variant MELA-AU 7 43387740 43387740 single base substitution C T intron_variant MELA-AU 7 43387816 43387816 single base substitution C T intron_variant MELA-AU 7 43387909 43387909 single base substitution C T intron_variant MELA-AU 7 43388031 43388031 single base substitution C A intron_variant MELA-AU 7 43388110 43388110 single base substitution C T intron_variant MELA-AU 7 43388188 43388188 single base substitution C T intron_variant MELA-AU 7 43388222 43388222 single base substitution C T intron_variant MELA-AU 7 43388346 43388346 single base substitution C T intron_variant MELA-AU 7 43388443 43388443 single base substitution C T intron_variant MELA-AU 7 43388570 43388570 single base substitution G A intron_variant MELA-AU 7 43388616 43388616 single base substitution C T intron_variant MELA-AU 7 43388656 43388656 single base substitution G A intron_variant MELA-AU 7 43388657 43388657 single base substitution G A intron_variant MELA-AU 7 43388672 43388672 single base substitution T G intron_variant MELA-AU 7 43388831 43388831 single base substitution C T intron_variant MELA-AU 7 43388886 43388886 single base substitution G A intron_variant MELA-AU 7 43388937 43388937 single base substitution G A intron_variant MELA-AU 7 43389062 43389062 single base substitution C T intron_variant MELA-AU 7 43389137 43389137 single base substitution C T intron_variant MELA-AU 7 43389176 43389176 single base substitution C T intron_variant MELA-AU 7 43389318 43389318 single base substitution C T intron_variant MELA-AU 7 43389426 43389426 single base substitution G A intron_variant MELA-AU 7 43389458 43389458 single base substitution C T intron_variant MELA-AU 7 43389791 43389791 single base substitution C T intron_variant MELA-AU 7 43389901 43389901 single base substitution C T intron_variant MELA-AU 7 43389905 43389905 single base substitution C T intron_variant MELA-AU 7 43389968 43389968 single base substitution C T intron_variant MELA-AU 7 43390033 43390033 single base substitution C T intron_variant MELA-AU 7 43390083 43390083 single base substitution C T intron_variant MELA-AU 7 43390094 43390094 single base substitution C T intron_variant MELA-AU 7 43390171 43390171 single base substitution C T intron_variant MELA-AU 7 43390172 43390172 single base substitution C T intron_variant MELA-AU 7 43390327 43390327 single base substitution C T intron_variant MELA-AU 7 43390344 43390344 single base substitution C T intron_variant MELA-AU 7 43390345 43390345 single base substitution C T intron_variant MELA-AU 7 43390389 43390389 single base substitution C T intron_variant MELA-AU 7 43390404 43390404 single base substitution C T intron_variant MELA-AU 7 43390418 43390418 single base substitution C T intron_variant MELA-AU 7 43390486 43390486 single base substitution G A intron_variant MELA-AU 7 43390495 43390495 single base substitution C T intron_variant MELA-AU 7 43390515 43390515 single base substitution G A intron_variant MELA-AU 7 43390523 43390523 single base substitution G A intron_variant MELA-AU 7 43390578 43390578 single base substitution C T intron_variant MELA-AU 7 43390584 43390584 single base substitution C T intron_variant MELA-AU 7 43390686 43390686 single base substitution C T intron_variant MELA-AU 7 43390737 43390737 single base substitution C T intron_variant MELA-AU 7 43391061 43391061 single base substitution G C intron_variant MELA-AU 7 43391070 43391070 single base substitution G A intron_variant MELA-AU 7 43391139 43391139 single base substitution G A intron_variant MELA-AU 7 43391390 43391390 single base substitution G A intron_variant MELA-AU 7 43391401 43391401 single base substitution C T intron_variant MELA-AU 7 43391553 43391553 single base substitution C T intron_variant MELA-AU 7 43391576 43391576 single base substitution C T intron_variant MELA-AU 7 43391579 43391579 single base substitution T G intron_variant MELA-AU 7 43391612 43391612 single base substitution C T intron_variant MELA-AU 7 43391971 43391971 single base substitution G A intron_variant MELA-AU 7 43392172 43392172 single base substitution C T intron_variant MELA-AU 7 43392236 43392236 single base substitution C T intron_variant MELA-AU 7 43392352 43392352 single base substitution G A intron_variant MELA-AU 7 43392356 43392356 single base substitution C T intron_variant MELA-AU 7 43392796 43392796 single base substitution G A intron_variant MELA-AU 7 43392854 43392855 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 43392914 43392914 single base substitution G A intron_variant MELA-AU 7 43392968 43392968 single base substitution C T intron_variant MELA-AU 7 43392997 43392997 single base substitution C T intron_variant MELA-AU 7 43393110 43393110 single base substitution G A intron_variant MELA-AU 7 43393113 43393113 single base substitution C T intron_variant MELA-AU 7 43393182 43393182 single base substitution A T intron_variant MELA-AU 7 43393238 43393238 single base substitution C T intron_variant MELA-AU 7 43393266 43393266 single base substitution G A intron_variant MELA-AU 7 43393276 43393276 single base substitution C T intron_variant MELA-AU 7 43393287 43393287 single base substitution G A intron_variant MELA-AU 7 43393466 43393466 single base substitution G A intron_variant MELA-AU 7 43393571 43393571 single base substitution C T intron_variant MELA-AU 7 43393586 43393586 single base substitution C T intron_variant MELA-AU 7 43393694 43393694 single base substitution C T intron_variant MELA-AU 7 43393834 43393834 single base substitution C T intron_variant MELA-AU 7 43393835 43393835 single base substitution C T intron_variant MELA-AU 7 43393888 43393888 single base substitution C T intron_variant MELA-AU 7 43393998 43393998 single base substitution G A intron_variant MELA-AU 7 43394010 43394010 single base substitution A G intron_variant MELA-AU 7 43394012 43394012 single base substitution G A intron_variant MELA-AU 7 43394237 43394237 single base substitution G A intron_variant MELA-AU 7 43394262 43394262 single base substitution G A intron_variant MELA-AU 7 43394304 43394304 single base substitution C T intron_variant MELA-AU 7 43394651 43394651 single base substitution C T intron_variant MELA-AU 7 43394709 43394709 single base substitution C T intron_variant MELA-AU 7 43394880 43394880 single base substitution G A intron_variant MELA-AU 7 43394922 43394922 single base substitution C T intron_variant MELA-AU 7 43394931 43394931 single base substitution G A intron_variant MELA-AU 7 43395043 43395043 single base substitution G A intron_variant MELA-AU 7 43395046 43395046 single base substitution G A intron_variant MELA-AU 7 43395080 43395080 single base substitution T C intron_variant MELA-AU 7 43395124 43395124 single base substitution C T intron_variant MELA-AU 7 43395266 43395266 single base substitution G A intron_variant MELA-AU 7 43395280 43395280 single base substitution A T intron_variant MELA-AU 7 43395385 43395385 single base substitution C T intron_variant MELA-AU 7 43395514 43395514 single base substitution G A intron_variant MELA-AU 7 43395615 43395615 single base substitution G A intron_variant MELA-AU 7 43395646 43395646 single base substitution C T intron_variant MELA-AU 7 43395702 43395702 single base substitution G A intron_variant MELA-AU 7 43396252 43396252 single base substitution A T intron_variant MELA-AU 7 43396728 43396728 single base substitution G A intron_variant MELA-AU 7 43396754 43396754 single base substitution G A intron_variant MELA-AU 7 43396841 43396841 single base substitution G A intron_variant MELA-AU 7 43396854 43396854 single base substitution C T intron_variant MELA-AU 7 43396913 43396913 single base substitution G A intron_variant MELA-AU 7 43397119 43397119 single base substitution C T intron_variant MELA-AU 7 43397153 43397153 single base substitution G A intron_variant MELA-AU 7 43397170 43397170 single base substitution G A intron_variant MELA-AU 7 43397585 43397585 single base substitution C T intron_variant MELA-AU 7 43397695 43397695 single base substitution G A intron_variant MELA-AU 7 43397712 43397712 single base substitution A T intron_variant MELA-AU 7 43397716 43397716 single base substitution C T intron_variant MELA-AU 7 43397756 43397756 single base substitution C T intron_variant MELA-AU 7 43397760 43397760 single base substitution C T intron_variant MELA-AU 7 43397887 43397887 single base substitution G A intron_variant MELA-AU 7 43398404 43398404 single base substitution C T intron_variant MELA-AU 7 43398514 43398514 single base substitution C T intron_variant MELA-AU 7 43398761 43398761 single base substitution C T intron_variant MELA-AU 7 43398901 43398901 single base substitution G A intron_variant MELA-AU 7 43398943 43398943 single base substitution G A intron_variant MELA-AU 7 43399005 43399005 single base substitution G A intron_variant MELA-AU 7 43399013 43399013 single base substitution G A intron_variant MELA-AU 7 43399151 43399151 single base substitution G A intron_variant MELA-AU 7 43399282 43399282 single base substitution C T intron_variant MELA-AU 7 43399290 43399290 single base substitution C A intron_variant MELA-AU 7 43399366 43399366 single base substitution T A intron_variant MELA-AU 7 43399420 43399420 single base substitution A G intron_variant MELA-AU 7 43399820 43399820 single base substitution T G intron_variant MELA-AU 7 43399996 43399996 single base substitution G A intron_variant MELA-AU 7 43400344 43400344 single base substitution G A intron_variant MELA-AU 7 43400596 43400596 single base substitution C T intron_variant MELA-AU 7 43400976 43400976 single base substitution T A intron_variant MELA-AU 7 43400993 43400993 single base substitution G A intron_variant MELA-AU 7 43401175 43401175 single base substitution C T intron_variant MELA-AU 7 43401176 43401176 single base substitution C T intron_variant MELA-AU 7 43401320 43401320 single base substitution C T intron_variant MELA-AU 7 43401371 43401371 single base substitution G A intron_variant MELA-AU 7 43401666 43401666 single base substitution G A intron_variant MELA-AU 7 43401684 43401684 single base substitution C T intron_variant MELA-AU 7 43401961 43401961 single base substitution G A intron_variant MELA-AU 7 43402146 43402146 single base substitution C T intron_variant MELA-AU 7 43402184 43402184 single base substitution G A intron_variant MELA-AU 7 43402391 43402391 single base substitution G A intron_variant MELA-AU 7 43402538 43402538 single base substitution C T intron_variant MELA-AU 7 43402664 43402664 single base substitution C T intron_variant MELA-AU 7 43402893 43402893 single base substitution G A intron_variant MELA-AU 7 43402894 43402894 single base substitution G A intron_variant MELA-AU 7 43402932 43402932 single base substitution C T intron_variant MELA-AU 7 43402966 43402966 single base substitution T G intron_variant MELA-AU 7 43403130 43403130 single base substitution T C intron_variant MELA-AU 7 43403138 43403138 single base substitution C T intron_variant MELA-AU 7 43403157 43403157 single base substitution G A intron_variant MELA-AU 7 43403240 43403240 single base substitution C T intron_variant MELA-AU 7 43403267 43403267 single base substitution C T intron_variant MELA-AU 7 43403377 43403377 single base substitution C T intron_variant MELA-AU 7 43403458 43403458 single base substitution A C intron_variant MELA-AU 7 43403490 43403490 single base substitution A G intron_variant MELA-AU 7 43403581 43403581 single base substitution G A intron_variant MELA-AU 7 43403600 43403600 single base substitution C T intron_variant MELA-AU 7 43403667 43403667 single base substitution C T intron_variant MELA-AU 7 43403705 43403705 single base substitution C T intron_variant MELA-AU 7 43403818 43403818 single base substitution C T intron_variant MELA-AU 7 43403836 43403836 single base substitution C T intron_variant MELA-AU 7 43403950 43403950 single base substitution T G intron_variant MELA-AU 7 43404042 43404042 single base substitution T C intron_variant MELA-AU 7 43404200 43404200 single base substitution C T intron_variant MELA-AU 7 43404273 43404273 single base substitution A T intron_variant MELA-AU 7 43404696 43404696 single base substitution C T intron_variant MELA-AU 7 43404711 43404711 single base substitution C A intron_variant MELA-AU 7 43404742 43404742 single base substitution G A intron_variant MELA-AU 7 43404860 43404860 single base substitution C T intron_variant MELA-AU 7 43405012 43405012 single base substitution G A intron_variant MELA-AU 7 43405017 43405017 single base substitution G A intron_variant MELA-AU 7 43405061 43405061 insertion of <=200bp - T intron_variant MELA-AU 7 43405198 43405198 single base substitution G A intron_variant MELA-AU 7 43405319 43405319 single base substitution C T intron_variant MELA-AU 7 43405411 43405411 single base substitution G A intron_variant MELA-AU 7 43405479 43405479 single base substitution G A intron_variant MELA-AU 7 43405596 43405596 single base substitution G A intron_variant MELA-AU 7 43405740 43405740 single base substitution T C intron_variant MELA-AU 7 43405895 43405895 single base substitution C T intron_variant MELA-AU 7 43405928 43405928 single base substitution G A intron_variant MELA-AU 7 43405951 43405951 single base substitution C T intron_variant MELA-AU 7 43406005 43406005 single base substitution G A intron_variant MELA-AU 7 43406037 43406037 single base substitution C T intron_variant MELA-AU 7 43406059 43406059 single base substitution G A intron_variant MELA-AU 7 43406198 43406198 single base substitution G A intron_variant MELA-AU 7 43406492 43406492 single base substitution C T intron_variant MELA-AU 7 43406767 43406767 single base substitution G A intron_variant MELA-AU 7 43406777 43406777 single base substitution C T intron_variant MELA-AU 7 43406853 43406853 single base substitution C T intron_variant MELA-AU 7 43407082 43407082 single base substitution C T intron_variant MELA-AU 7 43407489 43407489 single base substitution G A intron_variant MELA-AU 7 43407574 43407574 single base substitution C T intron_variant MELA-AU 7 43407648 43407648 single base substitution C T intron_variant MELA-AU 7 43407738 43407738 single base substitution C T intron_variant MELA-AU 7 43407806 43407806 single base substitution G A intron_variant MELA-AU 7 43407837 43407837 single base substitution G A intron_variant MELA-AU 7 43407866 43407866 single base substitution G A intron_variant MELA-AU 7 43407906 43407906 single base substitution C T intron_variant MELA-AU 7 43408035 43408035 single base substitution C T intron_variant MELA-AU 7 43408229 43408229 single base substitution G A intron_variant MELA-AU 7 43408379 43408379 single base substitution G T intron_variant MELA-AU 7 43408413 43408413 single base substitution C T intron_variant MELA-AU 7 43408419 43408419 single base substitution G A intron_variant MELA-AU 7 43408459 43408459 single base substitution C T intron_variant MELA-AU 7 43408461 43408461 single base substitution C T intron_variant MELA-AU 7 43408562 43408562 single base substitution G A intron_variant MELA-AU 7 43408805 43408805 single base substitution C T intron_variant MELA-AU 7 43408855 43408855 single base substitution C T intron_variant MELA-AU 7 43409026 43409026 single base substitution C T intron_variant MELA-AU 7 43409076 43409076 single base substitution A C intron_variant MELA-AU 7 43409420 43409420 single base substitution G A intron_variant MELA-AU 7 43409448 43409448 single base substitution G A intron_variant MELA-AU 7 43409451 43409451 single base substitution A G intron_variant MELA-AU 7 43409486 43409486 single base substitution G A intron_variant MELA-AU 7 43409490 43409490 single base substitution G A intron_variant MELA-AU 7 43409565 43409565 single base substitution C T intron_variant MELA-AU 7 43409605 43409606 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 43409789 43409789 single base substitution G A intron_variant MELA-AU 7 43409833 43409833 single base substitution G A intron_variant MELA-AU 7 43409979 43409979 single base substitution G A intron_variant MELA-AU 7 43410001 43410001 single base substitution G A intron_variant MELA-AU 7 43410197 43410197 single base substitution G A intron_variant MELA-AU 7 43410466 43410466 single base substitution G A intron_variant MELA-AU 7 43410678 43410678 single base substitution G A intron_variant MELA-AU 7 43410795 43410795 single base substitution C T intron_variant MELA-AU 7 43410964 43410964 single base substitution G A intron_variant MELA-AU 7 43411137 43411137 single base substitution G A intron_variant MELA-AU 7 43411148 43411148 single base substitution G A intron_variant MELA-AU 7 43411185 43411185 single base substitution C T intron_variant MELA-AU 7 43411328 43411328 single base substitution G A intron_variant MELA-AU 7 43411448 43411448 single base substitution C T intron_variant MELA-AU 7 43411617 43411617 single base substitution C T intron_variant MELA-AU 7 43411678 43411678 single base substitution C T intron_variant MELA-AU 7 43411680 43411680 single base substitution C T intron_variant MELA-AU 7 43411765 43411765 single base substitution C T intron_variant MELA-AU 7 43411935 43411935 single base substitution T A intron_variant MELA-AU 7 43411956 43411956 single base substitution C T intron_variant MELA-AU 7 43412113 43412113 single base substitution C T intron_variant MELA-AU 7 43412131 43412131 single base substitution C T intron_variant MELA-AU 7 43412186 43412186 single base substitution C T intron_variant MELA-AU 7 43412334 43412334 single base substitution C T intron_variant MELA-AU 7 43412550 43412550 single base substitution G A intron_variant MELA-AU 7 43412550 43412550 single base substitution G A upstream_gene_variant MELA-AU 7 43412608 43412608 single base substitution C T intron_variant MELA-AU 7 43412608 43412608 single base substitution C T upstream_gene_variant MELA-AU 7 43413054 43413054 single base substitution G A intron_variant MELA-AU 7 43413054 43413054 single base substitution G A upstream_gene_variant MELA-AU 7 43413072 43413072 single base substitution T A intron_variant MELA-AU 7 43413072 43413072 single base substitution T A upstream_gene_variant MELA-AU 7 43413206 43413206 single base substitution T G intron_variant MELA-AU 7 43413206 43413206 single base substitution T G upstream_gene_variant MELA-AU 7 43413359 43413359 single base substitution G A intron_variant MELA-AU 7 43413359 43413359 single base substitution G A upstream_gene_variant MELA-AU 7 43413434 43413434 single base substitution C T intron_variant MELA-AU 7 43413434 43413434 single base substitution C T upstream_gene_variant MELA-AU 7 43413474 43413474 single base substitution G A intron_variant MELA-AU 7 43413474 43413474 single base substitution G A upstream_gene_variant MELA-AU 7 43413617 43413617 single base substitution T C intron_variant MELA-AU 7 43413617 43413617 single base substitution T C upstream_gene_variant MELA-AU 7 43413656 43413656 single base substitution T C intron_variant MELA-AU 7 43413656 43413656 single base substitution T C upstream_gene_variant MELA-AU 7 43413668 43413668 single base substitution G A intron_variant MELA-AU 7 43413668 43413668 single base substitution G A upstream_gene_variant MELA-AU 7 43413707 43413707 single base substitution G A intron_variant MELA-AU 7 43413707 43413707 single base substitution G A upstream_gene_variant MELA-AU 7 43413759 43413759 single base substitution C T intron_variant MELA-AU 7 43413759 43413759 single base substitution C T upstream_gene_variant MELA-AU 7 43413802 43413802 single base substitution G A intron_variant MELA-AU 7 43413802 43413802 single base substitution G A upstream_gene_variant MELA-AU 7 43414048 43414048 single base substitution C T intron_variant MELA-AU 7 43414048 43414048 single base substitution C T upstream_gene_variant MELA-AU 7 43414051 43414051 single base substitution C T intron_variant MELA-AU 7 43414051 43414051 single base substitution C T upstream_gene_variant MELA-AU 7 43414064 43414064 single base substitution G A intron_variant MELA-AU 7 43414064 43414064 single base substitution G A upstream_gene_variant MELA-AU 7 43414156 43414156 single base substitution G A intron_variant MELA-AU 7 43414156 43414156 single base substitution G A upstream_gene_variant MELA-AU 7 43414288 43414288 single base substitution G A intron_variant MELA-AU 7 43414288 43414288 single base substitution G A upstream_gene_variant MELA-AU 7 43414693 43414693 single base substitution C T intron_variant MELA-AU 7 43414693 43414693 single base substitution C T upstream_gene_variant MELA-AU 7 43414704 43414704 single base substitution C T intron_variant MELA-AU 7 43414704 43414704 single base substitution C T upstream_gene_variant MELA-AU 7 43414757 43414757 single base substitution G A intron_variant MELA-AU 7 43414757 43414757 single base substitution G A upstream_gene_variant MELA-AU 7 43414815 43414815 single base substitution G A intron_variant MELA-AU 7 43414815 43414815 single base substitution G A upstream_gene_variant MELA-AU 7 43414892 43414892 single base substitution G A intron_variant MELA-AU 7 43414892 43414892 single base substitution G A upstream_gene_variant MELA-AU 7 43414959 43414959 single base substitution T C intron_variant MELA-AU 7 43414959 43414959 single base substitution T C upstream_gene_variant MELA-AU 7 43414981 43414981 single base substitution G A intron_variant MELA-AU 7 43414981 43414981 single base substitution G A upstream_gene_variant MELA-AU 7 43415283 43415283 single base substitution G A intron_variant MELA-AU 7 43415283 43415283 single base substitution G A upstream_gene_variant MELA-AU 7 43415400 43415400 single base substitution G A intron_variant MELA-AU 7 43415400 43415400 single base substitution G A upstream_gene_variant MELA-AU 7 43415416 43415416 single base substitution C T intron_variant MELA-AU 7 43415416 43415416 single base substitution C T upstream_gene_variant MELA-AU 7 43415440 43415440 single base substitution C T intron_variant MELA-AU 7 43415440 43415440 single base substitution C T upstream_gene_variant MELA-AU 7 43415508 43415508 single base substitution G A intron_variant MELA-AU 7 43415508 43415508 single base substitution G A upstream_gene_variant MELA-AU 7 43415891 43415891 single base substitution C T intron_variant MELA-AU 7 43415891 43415891 single base substitution C T upstream_gene_variant MELA-AU 7 43415908 43415908 single base substitution G A intron_variant MELA-AU 7 43415908 43415908 single base substitution G A upstream_gene_variant MELA-AU 7 43415981 43415981 single base substitution C T intron_variant MELA-AU 7 43415981 43415981 single base substitution C T upstream_gene_variant MELA-AU 7 43416103 43416103 single base substitution G A intron_variant MELA-AU 7 43416103 43416103 single base substitution G A upstream_gene_variant MELA-AU 7 43416211 43416211 single base substitution C T intron_variant MELA-AU 7 43416211 43416211 single base substitution C T upstream_gene_variant MELA-AU 7 43416393 43416393 single base substitution G A intron_variant MELA-AU 7 43416393 43416393 single base substitution G A upstream_gene_variant MELA-AU 7 43416577 43416577 single base substitution G A intron_variant MELA-AU 7 43416577 43416577 single base substitution G A upstream_gene_variant MELA-AU 7 43416580 43416580 single base substitution A G intron_variant MELA-AU 7 43416580 43416580 single base substitution A G upstream_gene_variant MELA-AU 7 43416616 43416616 single base substitution G A intron_variant MELA-AU 7 43416616 43416616 single base substitution G A upstream_gene_variant MELA-AU 7 43416689 43416689 single base substitution C T intron_variant MELA-AU 7 43416689 43416689 single base substitution C T upstream_gene_variant MELA-AU 7 43416758 43416758 single base substitution G A intron_variant MELA-AU 7 43416758 43416758 single base substitution G A upstream_gene_variant MELA-AU 7 43416964 43416964 single base substitution G A intron_variant MELA-AU 7 43416964 43416964 single base substitution G A upstream_gene_variant MELA-AU 7 43417152 43417152 single base substitution G A intron_variant MELA-AU 7 43417152 43417152 single base substitution G A upstream_gene_variant MELA-AU 7 43417181 43417181 single base substitution C T intron_variant MELA-AU 7 43417181 43417181 single base substitution C T upstream_gene_variant MELA-AU 7 43417212 43417213 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 43417212 43417213 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 43417314 43417314 single base substitution C T intron_variant MELA-AU 7 43417314 43417314 single base substitution C T upstream_gene_variant MELA-AU 7 43417327 43417327 single base substitution C T intron_variant MELA-AU 7 43417327 43417327 single base substitution C T upstream_gene_variant MELA-AU 7 43417459 43417459 single base substitution C T exon_variant MELA-AU 7 43417459 43417459 single base substitution C T intron_variant MELA-AU 7 43417664 43417664 single base substitution G A intron_variant MELA-AU 7 43418016 43418016 single base substitution C T intron_variant MELA-AU 7 43418105 43418105 single base substitution A T intron_variant MELA-AU 7 43418193 43418193 single base substitution C T intron_variant MELA-AU 7 43418430 43418430 single base substitution G A intron_variant MELA-AU 7 43418510 43418510 single base substitution C T intron_variant MELA-AU 7 43418532 43418532 single base substitution G A intron_variant MELA-AU 7 43418560 43418560 single base substitution A C intron_variant MELA-AU 7 43418673 43418673 single base substitution A G intron_variant MELA-AU 7 43419061 43419061 single base substitution C T intron_variant MELA-AU 7 43419119 43419119 single base substitution G A intron_variant MELA-AU 7 43419181 43419181 single base substitution G A intron_variant MELA-AU 7 43419475 43419475 single base substitution C T intron_variant MELA-AU 7 43419795 43419795 single base substitution G A intron_variant MELA-AU 7 43419827 43419827 single base substitution A T intron_variant MELA-AU 7 43419891 43419892 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 43419933 43419933 single base substitution G A intron_variant MELA-AU 7 43420209 43420209 single base substitution C T intron_variant MELA-AU 7 43420296 43420296 single base substitution T A intron_variant MELA-AU 7 43420326 43420326 single base substitution C T intron_variant MELA-AU 7 43420398 43420398 single base substitution G A intron_variant MELA-AU 7 43420544 43420544 single base substitution T C intron_variant MELA-AU 7 43420588 43420588 single base substitution C T intron_variant MELA-AU 7 43420679 43420679 single base substitution G A intron_variant MELA-AU 7 43420744 43420744 single base substitution T G intron_variant MELA-AU 7 43420761 43420761 single base substitution A T intron_variant MELA-AU 7 43420780 43420780 single base substitution C T intron_variant MELA-AU 7 43421063 43421063 single base substitution G A intron_variant MELA-AU 7 43421226 43421226 single base substitution C T intron_variant MELA-AU 7 43421246 43421246 single base substitution C T intron_variant MELA-AU 7 43421307 43421307 single base substitution G A intron_variant MELA-AU 7 43421400 43421400 single base substitution G A intron_variant MELA-AU 7 43421434 43421434 single base substitution A T intron_variant MELA-AU 7 43421488 43421488 single base substitution C T intron_variant MELA-AU 7 43421520 43421520 single base substitution C T intron_variant MELA-AU 7 43421581 43421581 single base substitution T G intron_variant MELA-AU 7 43421617 43421617 single base substitution C T intron_variant MELA-AU 7 43421632 43421632 single base substitution C T intron_variant MELA-AU 7 43421708 43421708 single base substitution C A intron_variant MELA-AU 7 43421710 43421711 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 43421872 43421872 single base substitution G A intron_variant MELA-AU 7 43422142 43422143 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 43422161 43422161 single base substitution G A intron_variant MELA-AU 7 43422271 43422271 single base substitution C T intron_variant MELA-AU 7 43422280 43422280 single base substitution G A intron_variant MELA-AU 7 43422521 43422521 single base substitution C T intron_variant MELA-AU 7 43422592 43422592 single base substitution C T intron_variant MELA-AU 7 43422645 43422645 single base substitution C T intron_variant MELA-AU 7 43422693 43422693 single base substitution C T intron_variant MELA-AU 7 43422705 43422705 single base substitution T G intron_variant MELA-AU 7 43422770 43422770 single base substitution C T intron_variant MELA-AU 7 43422779 43422779 single base substitution C T intron_variant MELA-AU 7 43422825 43422825 single base substitution C T intron_variant MELA-AU 7 43423111 43423111 single base substitution T C intron_variant MELA-AU 7 43423265 43423265 single base substitution C T intron_variant MELA-AU 7 43423376 43423376 single base substitution C T intron_variant MELA-AU 7 43423497 43423497 single base substitution G A intron_variant MELA-AU 7 43423677 43423677 single base substitution C T intron_variant MELA-AU 7 43423887 43423887 single base substitution C T intron_variant MELA-AU 7 43423891 43423891 single base substitution G A intron_variant MELA-AU 7 43424055 43424055 single base substitution C T intron_variant MELA-AU 7 43424086 43424086 single base substitution C T intron_variant MELA-AU 7 43424087 43424087 single base substitution C T intron_variant MELA-AU 7 43424135 43424135 single base substitution A T intron_variant MELA-AU 7 43424210 43424210 single base substitution G A intron_variant MELA-AU 7 43424212 43424213 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 43424213 43424213 single base substitution G A intron_variant MELA-AU 7 43425069 43425069 single base substitution C T intron_variant MELA-AU 7 43425081 43425081 single base substitution C T intron_variant MELA-AU 7 43425172 43425172 single base substitution G A intron_variant MELA-AU 7 43425347 43425347 single base substitution G A intron_variant MELA-AU 7 43425371 43425371 single base substitution G A intron_variant MELA-AU 7 43425401 43425401 single base substitution C T intron_variant MELA-AU 7 43425635 43425635 single base substitution C T intron_variant MELA-AU 7 43425642 43425642 single base substitution C T intron_variant MELA-AU 7 43425909 43425909 single base substitution G A intron_variant MELA-AU 7 43426003 43426003 single base substitution G A intron_variant MELA-AU 7 43426004 43426004 single base substitution G A intron_variant MELA-AU 7 43426008 43426008 single base substitution G A intron_variant MELA-AU 7 43426079 43426079 single base substitution G A intron_variant MELA-AU 7 43426081 43426081 single base substitution G A intron_variant MELA-AU 7 43426095 43426095 single base substitution C T intron_variant MELA-AU 7 43426188 43426188 single base substitution G A intron_variant MELA-AU 7 43426189 43426189 single base substitution G A intron_variant MELA-AU 7 43426365 43426365 single base substitution C T intron_variant MELA-AU 7 43426445 43426445 single base substitution C T intron_variant MELA-AU 7 43426674 43426674 single base substitution G A intron_variant MELA-AU 7 43426778 43426778 single base substitution C T intron_variant MELA-AU 7 43426859 43426859 single base substitution G A intron_variant MELA-AU 7 43426977 43426977 single base substitution A T intron_variant MELA-AU 7 43427036 43427036 single base substitution G A intron_variant MELA-AU 7 43427074 43427074 single base substitution A T intron_variant MELA-AU 7 43427077 43427077 single base substitution C T intron_variant MELA-AU 7 43427174 43427174 single base substitution G A intron_variant MELA-AU 7 43427516 43427516 single base substitution A T intron_variant MELA-AU 7 43427631 43427631 single base substitution C T intron_variant MELA-AU 7 43427782 43427782 single base substitution C T intron_variant MELA-AU 7 43427866 43427866 single base substitution G A intron_variant MELA-AU 7 43427970 43427970 single base substitution G A intron_variant MELA-AU 7 43428036 43428036 single base substitution C T intron_variant MELA-AU 7 43428207 43428207 single base substitution G A intron_variant MELA-AU 7 43428329 43428329 single base substitution C T intron_variant MELA-AU 7 43428395 43428395 single base substitution C T intron_variant MELA-AU 7 43428728 43428728 single base substitution G A intron_variant MELA-AU 7 43428791 43428791 single base substitution C T intron_variant MELA-AU 7 43428801 43428801 single base substitution G A intron_variant MELA-AU 7 43428920 43428920 single base substitution C T intron_variant MELA-AU 7 43429090 43429090 single base substitution G A intron_variant MELA-AU 7 43429174 43429174 single base substitution C T intron_variant MELA-AU 7 43429246 43429246 single base substitution C T intron_variant MELA-AU 7 43429578 43429578 single base substitution G A intron_variant MELA-AU 7 43429602 43429602 single base substitution C T intron_variant MELA-AU 7 43429674 43429674 single base substitution C T intron_variant MELA-AU 7 43429693 43429693 single base substitution G A intron_variant MELA-AU 7 43429717 43429717 single base substitution C T intron_variant MELA-AU 7 43429737 43429737 single base substitution G A intron_variant MELA-AU 7 43429914 43429914 single base substitution G A intron_variant MELA-AU 7 43429966 43429966 single base substitution C T intron_variant MELA-AU 7 43429970 43429970 single base substitution C T intron_variant MELA-AU 7 43430039 43430039 single base substitution C T intron_variant MELA-AU 7 43430067 43430067 single base substitution G A intron_variant MELA-AU 7 43430084 43430084 single base substitution G A intron_variant MELA-AU 7 43430131 43430131 single base substitution A G intron_variant MELA-AU 7 43430505 43430505 single base substitution C T intron_variant MELA-AU 7 43430645 43430645 single base substitution C T intron_variant MELA-AU 7 43430734 43430734 single base substitution G A intron_variant MELA-AU 7 43430737 43430737 single base substitution G A intron_variant MELA-AU 7 43430767 43430767 single base substitution T A intron_variant MELA-AU 7 43430879 43430879 single base substitution G A intron_variant MELA-AU 7 43431057 43431058 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 43431062 43431062 single base substitution G A intron_variant MELA-AU 7 43431070 43431071 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 43431197 43431197 single base substitution G A intron_variant MELA-AU 7 43431504 43431504 single base substitution C T intron_variant MELA-AU 7 43431504 43431504 single base substitution C T upstream_gene_variant MELA-AU 7 43431510 43431510 single base substitution A G intron_variant MELA-AU 7 43431510 43431510 single base substitution A G upstream_gene_variant MELA-AU 7 43431758 43431758 single base substitution G A intron_variant MELA-AU 7 43431758 43431758 single base substitution G A upstream_gene_variant MELA-AU 7 43431783 43431783 single base substitution G A intron_variant MELA-AU 7 43431783 43431783 single base substitution G A upstream_gene_variant MELA-AU 7 43431856 43431856 single base substitution G A intron_variant MELA-AU 7 43431856 43431856 single base substitution G A upstream_gene_variant MELA-AU 7 43431886 43431886 single base substitution C T intron_variant MELA-AU 7 43431886 43431886 single base substitution C T upstream_gene_variant MELA-AU 7 43432106 43432106 single base substitution C T intron_variant MELA-AU 7 43432106 43432106 single base substitution C T upstream_gene_variant MELA-AU 7 43432569 43432569 single base substitution G A intron_variant MELA-AU 7 43432569 43432569 single base substitution G A upstream_gene_variant MELA-AU 7 43432661 43432661 single base substitution C T intron_variant MELA-AU 7 43432661 43432661 single base substitution C T upstream_gene_variant MELA-AU 7 43432683 43432683 single base substitution C T intron_variant MELA-AU 7 43432683 43432683 single base substitution C T upstream_gene_variant MELA-AU 7 43432739 43432739 single base substitution G A intron_variant MELA-AU 7 43432739 43432739 single base substitution G A upstream_gene_variant MELA-AU 7 43432871 43432871 single base substitution G A intron_variant MELA-AU 7 43432871 43432871 single base substitution G A upstream_gene_variant MELA-AU 7 43433199 43433199 single base substitution G A intron_variant MELA-AU 7 43433199 43433199 single base substitution G A upstream_gene_variant MELA-AU 7 43433374 43433374 single base substitution T A intron_variant MELA-AU 7 43433374 43433374 single base substitution T A upstream_gene_variant MELA-AU 7 43433375 43433375 single base substitution G A intron_variant MELA-AU 7 43433375 43433375 single base substitution G A upstream_gene_variant MELA-AU 7 43433475 43433475 single base substitution C T intron_variant MELA-AU 7 43433475 43433475 single base substitution C T upstream_gene_variant MELA-AU 7 43433603 43433603 single base substitution G A intron_variant MELA-AU 7 43433603 43433603 single base substitution G A upstream_gene_variant MELA-AU 7 43433614 43433614 single base substitution G A intron_variant MELA-AU 7 43433614 43433614 single base substitution G A upstream_gene_variant MELA-AU 7 43433619 43433619 single base substitution G A intron_variant MELA-AU 7 43433619 43433619 single base substitution G A upstream_gene_variant MELA-AU 7 43433785 43433785 single base substitution G A intron_variant MELA-AU 7 43433785 43433785 single base substitution G A upstream_gene_variant MELA-AU 7 43433811 43433811 single base substitution G A intron_variant MELA-AU 7 43433811 43433811 single base substitution G A upstream_gene_variant MELA-AU 7 43434170 43434170 single base substitution G A intron_variant MELA-AU 7 43434170 43434170 single base substitution G A upstream_gene_variant MELA-AU 7 43434289 43434289 single base substitution G A intron_variant MELA-AU 7 43434289 43434289 single base substitution G A upstream_gene_variant MELA-AU 7 43434290 43434290 single base substitution G A intron_variant MELA-AU 7 43434290 43434290 single base substitution G A upstream_gene_variant MELA-AU 7 43434397 43434398 multiple base substitution (>=2bp and <=200bp) CA AG intron_variant MELA-AU 7 43434397 43434398 multiple base substitution (>=2bp and <=200bp) CA AG upstream_gene_variant MELA-AU 7 43434564 43434564 single base substitution G A intron_variant MELA-AU 7 43434564 43434564 single base substitution G A upstream_gene_variant MELA-AU 7 43434608 43434608 single base substitution C T intron_variant MELA-AU 7 43434608 43434608 single base substitution C T upstream_gene_variant MELA-AU 7 43434831 43434831 single base substitution G A intron_variant MELA-AU 7 43434831 43434831 single base substitution G A upstream_gene_variant MELA-AU 7 43435013 43435013 single base substitution G A intron_variant MELA-AU 7 43435013 43435013 single base substitution G A upstream_gene_variant MELA-AU 7 43435181 43435181 single base substitution G A intron_variant MELA-AU 7 43435181 43435181 single base substitution G A upstream_gene_variant MELA-AU 7 43435362 43435362 single base substitution C T intron_variant MELA-AU 7 43435362 43435362 single base substitution C T upstream_gene_variant MELA-AU 7 43435382 43435382 single base substitution G A intron_variant MELA-AU 7 43435382 43435382 single base substitution G A upstream_gene_variant MELA-AU 7 43435493 43435493 single base substitution G A intron_variant MELA-AU 7 43435493 43435493 single base substitution G A upstream_gene_variant MELA-AU 7 43435521 43435521 single base substitution A T intron_variant MELA-AU 7 43435521 43435521 single base substitution A T upstream_gene_variant MELA-AU 7 43435596 43435596 single base substitution T C intron_variant MELA-AU 7 43435596 43435596 single base substitution T C upstream_gene_variant MELA-AU 7 43435792 43435792 single base substitution G A intron_variant MELA-AU 7 43435792 43435792 single base substitution G A upstream_gene_variant MELA-AU 7 43435846 43435846 single base substitution G A intron_variant MELA-AU 7 43435846 43435846 single base substitution G A upstream_gene_variant MELA-AU 7 43436188 43436188 single base substitution C T intron_variant MELA-AU 7 43436188 43436188 single base substitution C T upstream_gene_variant MELA-AU 7 43436370 43436370 single base substitution C T intron_variant MELA-AU 7 43436399 43436399 single base substitution C T intron_variant MELA-AU 7 43436650 43436650 single base substitution C T intron_variant MELA-AU 7 43436666 43436666 single base substitution G A intron_variant MELA-AU 7 43436735 43436735 single base substitution C T intron_variant MELA-AU 7 43436920 43436920 single base substitution C T intron_variant MELA-AU 7 43437102 43437102 single base substitution G A intron_variant MELA-AU 7 43437223 43437223 single base substitution G A intron_variant MELA-AU 7 43437529 43437529 single base substitution G A intron_variant MELA-AU 7 43437785 43437785 single base substitution G A intron_variant MELA-AU 7 43437839 43437839 single base substitution G A intron_variant MELA-AU 7 43437865 43437865 single base substitution G A intron_variant MELA-AU 7 43438107 43438107 single base substitution C T intron_variant MELA-AU 7 43438284 43438284 single base substitution G A intron_variant MELA-AU 7 43438387 43438387 single base substitution G A intron_variant MELA-AU 7 43438481 43438481 single base substitution G A intron_variant MELA-AU 7 43438497 43438497 single base substitution C T intron_variant MELA-AU 7 43438621 43438621 single base substitution T C intron_variant MELA-AU 7 43438702 43438702 single base substitution C T intron_variant MELA-AU 7 43438757 43438757 single base substitution C T intron_variant MELA-AU 7 43438770 43438771 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 43439142 43439142 single base substitution C T intron_variant MELA-AU 7 43439174 43439174 single base substitution G A intron_variant MELA-AU 7 43439271 43439271 single base substitution C T intron_variant MELA-AU 7 43439390 43439390 single base substitution G A intron_variant MELA-AU 7 43439679 43439679 single base substitution A T intron_variant MELA-AU 7 43440021 43440021 single base substitution G A intron_variant MELA-AU 7 43440077 43440077 single base substitution G A intron_variant MELA-AU 7 43440127 43440127 single base substitution G A intron_variant MELA-AU 7 43440239 43440239 single base substitution G A intron_variant MELA-AU 7 43440268 43440268 single base substitution G A intron_variant MELA-AU 7 43440647 43440647 single base substitution G A intron_variant MELA-AU 7 43440670 43440670 single base substitution C T intron_variant MELA-AU 7 43440726 43440726 single base substitution G A intron_variant MELA-AU 7 43440734 43440734 single base substitution G A intron_variant MELA-AU 7 43440787 43440787 single base substitution G A intron_variant MELA-AU 7 43440810 43440810 single base substitution A T intron_variant MELA-AU 7 43441288 43441288 single base substitution A G intron_variant MELA-AU 7 43441432 43441432 single base substitution C G intron_variant MELA-AU 7 43441606 43441606 single base substitution C T intron_variant MELA-AU 7 43441618 43441618 single base substitution T A intron_variant MELA-AU 7 43441639 43441639 single base substitution C T intron_variant MELA-AU 7 43441788 43441788 single base substitution C T intron_variant MELA-AU 7 43441875 43441876 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 43442092 43442092 single base substitution C T intron_variant MELA-AU 7 43442102 43442102 single base substitution C T intron_variant MELA-AU 7 43442230 43442230 single base substitution C T intron_variant MELA-AU 7 43442233 43442233 single base substitution G A intron_variant MELA-AU 7 43442241 43442241 single base substitution G A intron_variant MELA-AU 7 43442273 43442273 single base substitution G A intron_variant MELA-AU 7 43442760 43442760 single base substitution A C intron_variant MELA-AU 7 43442866 43442866 single base substitution C T intron_variant MELA-AU 7 43443078 43443078 single base substitution G A intron_variant MELA-AU 7 43443265 43443265 single base substitution G A intron_variant MELA-AU 7 43443392 43443392 single base substitution G A intron_variant MELA-AU 7 43443407 43443407 single base substitution G A intron_variant MELA-AU 7 43443638 43443638 single base substitution C T intron_variant MELA-AU 7 43444062 43444062 single base substitution G A intron_variant MELA-AU 7 43444200 43444200 single base substitution G A intron_variant MELA-AU 7 43444231 43444231 single base substitution C T intron_variant MELA-AU 7 43444285 43444285 single base substitution G A intron_variant MELA-AU 7 43444377 43444377 single base substitution C T intron_variant MELA-AU 7 43444400 43444400 single base substitution C T intron_variant MELA-AU 7 43444623 43444623 single base substitution G A intron_variant MELA-AU 7 43444701 43444701 single base substitution G A intron_variant MELA-AU 7 43444720 43444720 single base substitution G A intron_variant MELA-AU 7 43445126 43445126 single base substitution G A intron_variant MELA-AU 7 43445329 43445329 single base substitution C T intron_variant MELA-AU 7 43445533 43445533 single base substitution G A intron_variant MELA-AU 7 43445746 43445746 single base substitution G A intron_variant MELA-AU 7 43445976 43445976 single base substitution C T intron_variant MELA-AU 7 43445985 43445985 single base substitution G A intron_variant MELA-AU 7 43446312 43446312 single base substitution T C intron_variant MELA-AU 7 43446489 43446489 single base substitution G A intron_variant MELA-AU 7 43446491 43446491 single base substitution C T intron_variant MELA-AU 7 43446882 43446882 single base substitution C T intron_variant MELA-AU 7 43446916 43446916 single base substitution C T intron_variant MELA-AU 7 43446956 43446956 single base substitution C T intron_variant MELA-AU 7 43447002 43447002 single base substitution G A intron_variant MELA-AU 7 43447082 43447082 single base substitution C T intron_variant MELA-AU 7 43447148 43447148 single base substitution C T intron_variant MELA-AU 7 43447272 43447272 single base substitution G A exon_variant MELA-AU 7 43447272 43447272 single base substitution G A missense_variant G248E 743G>A MELA-AU 7 43447310 43447310 single base substitution A G exon_variant MELA-AU 7 43447310 43447310 single base substitution A G missense_variant N261D 781A>G MELA-AU 7 43447371 43447371 single base substitution G A downstream_gene_variant MELA-AU 7 43447371 43447371 single base substitution G A intron_variant MELA-AU 7 43447404 43447404 single base substitution C T downstream_gene_variant MELA-AU 7 43447404 43447404 single base substitution C T intron_variant MELA-AU 7 43447405 43447405 single base substitution C T downstream_gene_variant MELA-AU 7 43447405 43447405 single base substitution C T intron_variant MELA-AU 7 43447465 43447465 single base substitution G A downstream_gene_variant MELA-AU 7 43447465 43447465 single base substitution G A intron_variant MELA-AU 7 43447466 43447466 single base substitution G A downstream_gene_variant MELA-AU 7 43447466 43447466 single base substitution G A intron_variant MELA-AU 7 43447601 43447601 single base substitution C T downstream_gene_variant MELA-AU 7 43447601 43447601 single base substitution C T intron_variant MELA-AU 7 43447758 43447758 single base substitution T A downstream_gene_variant MELA-AU 7 43447758 43447758 single base substitution T A intron_variant MELA-AU 7 43447760 43447760 single base substitution C T downstream_gene_variant MELA-AU 7 43447760 43447760 single base substitution C T intron_variant MELA-AU 7 43447970 43447970 single base substitution C T downstream_gene_variant MELA-AU 7 43447970 43447970 single base substitution C T intron_variant MELA-AU 7 43448040 43448041 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 43448040 43448041 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 43448057 43448057 single base substitution G A downstream_gene_variant MELA-AU 7 43448057 43448057 single base substitution G A intron_variant MELA-AU 7 43448359 43448359 single base substitution A T downstream_gene_variant MELA-AU 7 43448359 43448359 single base substitution A T intron_variant MELA-AU 7 43448381 43448381 single base substitution G A downstream_gene_variant MELA-AU 7 43448381 43448381 single base substitution G A intron_variant MELA-AU 7 43448607 43448607 single base substitution C T downstream_gene_variant MELA-AU 7 43448607 43448607 single base substitution C T intron_variant MELA-AU 7 43448714 43448714 single base substitution C T downstream_gene_variant MELA-AU 7 43448714 43448714 single base substitution C T intron_variant MELA-AU 7 43448725 43448725 single base substitution C T downstream_gene_variant MELA-AU 7 43448725 43448725 single base substitution C T intron_variant MELA-AU 7 43449082 43449082 single base substitution G A downstream_gene_variant MELA-AU 7 43449082 43449082 single base substitution G A intron_variant MELA-AU 7 43449211 43449211 single base substitution C T downstream_gene_variant MELA-AU 7 43449211 43449211 single base substitution C T intron_variant MELA-AU 7 43449396 43449396 single base substitution C T downstream_gene_variant MELA-AU 7 43449396 43449396 single base substitution C T intron_variant MELA-AU 7 43449429 43449429 single base substitution C T downstream_gene_variant MELA-AU 7 43449429 43449429 single base substitution C T intron_variant MELA-AU 7 43449589 43449589 single base substitution G A downstream_gene_variant MELA-AU 7 43449589 43449589 single base substitution G A intron_variant MELA-AU 7 43449839 43449839 single base substitution G A downstream_gene_variant MELA-AU 7 43449839 43449839 single base substitution G A intron_variant MELA-AU 7 43449850 43449850 single base substitution C T downstream_gene_variant MELA-AU 7 43449850 43449850 single base substitution C T intron_variant MELA-AU 7 43449893 43449893 single base substitution G A downstream_gene_variant MELA-AU 7 43449893 43449893 single base substitution G A intron_variant MELA-AU 7 43450021 43450021 single base substitution G A downstream_gene_variant MELA-AU 7 43450021 43450021 single base substitution G A intron_variant MELA-AU 7 43450079 43450079 single base substitution G A downstream_gene_variant MELA-AU 7 43450079 43450079 single base substitution G A intron_variant MELA-AU 7 43450155 43450155 single base substitution G A downstream_gene_variant MELA-AU 7 43450155 43450155 single base substitution G A intron_variant MELA-AU 7 43450209 43450209 single base substitution C T downstream_gene_variant MELA-AU 7 43450209 43450209 single base substitution C T intron_variant MELA-AU 7 43450357 43450357 single base substitution G A downstream_gene_variant MELA-AU 7 43450357 43450357 single base substitution G A intron_variant MELA-AU 7 43450629 43450629 single base substitution C T downstream_gene_variant MELA-AU 7 43450629 43450629 single base substitution C T intron_variant MELA-AU 7 43450820 43450820 single base substitution C T downstream_gene_variant MELA-AU 7 43450820 43450820 single base substitution C T intron_variant MELA-AU 7 43450881 43450881 single base substitution G A downstream_gene_variant MELA-AU 7 43450881 43450881 single base substitution G A intron_variant MELA-AU 7 43451445 43451445 single base substitution G A downstream_gene_variant MELA-AU 7 43451445 43451445 single base substitution G A intron_variant MELA-AU 7 43451623 43451623 single base substitution C T downstream_gene_variant MELA-AU 7 43451623 43451623 single base substitution C T intron_variant MELA-AU 7 43451625 43451625 single base substitution C T downstream_gene_variant MELA-AU 7 43451625 43451625 single base substitution C T intron_variant MELA-AU 7 43451720 43451720 single base substitution C T downstream_gene_variant MELA-AU 7 43451720 43451720 single base substitution C T intron_variant MELA-AU 7 43451842 43451842 single base substitution C T downstream_gene_variant MELA-AU 7 43451842 43451842 single base substitution C T intron_variant MELA-AU 7 43451848 43451848 single base substitution C T downstream_gene_variant MELA-AU 7 43451848 43451848 single base substitution C T intron_variant MELA-AU 7 43451963 43451963 single base substitution G A downstream_gene_variant MELA-AU 7 43451963 43451963 single base substitution G A intron_variant MELA-AU 7 43452281 43452281 single base substitution C T downstream_gene_variant MELA-AU 7 43452281 43452281 single base substitution C T intron_variant MELA-AU 7 43454392 43454392 single base substitution C T intron_variant MELA-AU 7 43454426 43454426 single base substitution G T intron_variant MELA-AU 7 43454497 43454497 single base substitution G A intron_variant MELA-AU 7 43455067 43455067 single base substitution C T intron_variant MELA-AU 7 43455117 43455117 single base substitution C T intron_variant MELA-AU 7 43455838 43455838 single base substitution C T intron_variant MELA-AU 7 43455925 43455925 single base substitution C T intron_variant MELA-AU 7 43456409 43456409 single base substitution C T intron_variant MELA-AU 7 43456520 43456520 single base substitution A C intron_variant MELA-AU 7 43456564 43456564 single base substitution G A intron_variant MELA-AU 7 43456629 43456629 single base substitution A T intron_variant MELA-AU 7 43456632 43456632 single base substitution C T intron_variant MELA-AU 7 43456679 43456679 single base substitution C T intron_variant MELA-AU 7 43456688 43456688 single base substitution C T intron_variant MELA-AU 7 43456699 43456699 single base substitution G A intron_variant MELA-AU 7 43456740 43456740 single base substitution C T intron_variant MELA-AU 7 43456810 43456810 single base substitution C T intron_variant MELA-AU 7 43456953 43456953 single base substitution C T intron_variant MELA-AU 7 43456972 43456972 single base substitution G A intron_variant MELA-AU 7 43456994 43456994 single base substitution C T intron_variant MELA-AU 7 43457005 43457005 single base substitution G A intron_variant MELA-AU 7 43457033 43457033 single base substitution G A intron_variant MELA-AU 7 43457319 43457319 single base substitution C T intron_variant MELA-AU 7 43457410 43457410 single base substitution C T intron_variant MELA-AU 7 43457578 43457579 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 43457607 43457607 single base substitution C T intron_variant MELA-AU 7 43457631 43457631 single base substitution C T intron_variant MELA-AU 7 43457781 43457781 single base substitution G A intron_variant MELA-AU 7 43458229 43458229 single base substitution C T intron_variant MELA-AU 7 43458397 43458397 single base substitution G A intron_variant MELA-AU 7 43458518 43458518 single base substitution G A intron_variant MELA-AU 7 43458577 43458577 single base substitution G A intron_variant MELA-AU 7 43458659 43458659 single base substitution G A intron_variant MELA-AU 7 43458716 43458716 single base substitution C T intron_variant MELA-AU 7 43458733 43458733 single base substitution C T intron_variant MELA-AU 7 43458784 43458784 single base substitution C T intron_variant MELA-AU 7 43459198 43459198 single base substitution G A intron_variant MELA-AU 7 43459292 43459292 single base substitution G A intron_variant MELA-AU 7 43459329 43459329 single base substitution C T intron_variant MELA-AU 7 43459403 43459403 single base substitution A T intron_variant MELA-AU 7 43459531 43459531 single base substitution C T intron_variant MELA-AU 7 43459543 43459543 single base substitution C T intron_variant MELA-AU 7 43459602 43459602 single base substitution G T intron_variant MELA-AU 7 43459619 43459619 single base substitution G A intron_variant MELA-AU 7 43459834 43459834 single base substitution A G intron_variant MELA-AU 7 43460007 43460007 single base substitution G A intron_variant MELA-AU 7 43460145 43460145 single base substitution C T intron_variant MELA-AU 7 43460255 43460255 single base substitution C T intron_variant MELA-AU 7 43460326 43460326 single base substitution G A intron_variant MELA-AU 7 43460494 43460494 single base substitution C T intron_variant MELA-AU 7 43460511 43460511 single base substitution G A intron_variant MELA-AU 7 43460618 43460618 single base substitution G A intron_variant MELA-AU 7 43460792 43460792 single base substitution G A intron_variant MELA-AU 7 43460844 43460844 single base substitution G A intron_variant MELA-AU 7 43460912 43460912 single base substitution G A intron_variant MELA-AU 7 43460981 43460981 single base substitution C T intron_variant MELA-AU 7 43461067 43461067 single base substitution C T intron_variant MELA-AU 7 43461185 43461185 single base substitution G A intron_variant MELA-AU 7 43461303 43461303 single base substitution G A intron_variant MELA-AU 7 43461323 43461323 single base substitution G A intron_variant MELA-AU 7 43461383 43461383 single base substitution G A intron_variant MELA-AU 7 43461482 43461483 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 43461553 43461553 single base substitution G A intron_variant MELA-AU 7 43461577 43461577 single base substitution C T intron_variant MELA-AU 7 43461728 43461728 single base substitution G A intron_variant MELA-AU 7 43461907 43461907 single base substitution G A intron_variant MELA-AU 7 43461935 43461935 single base substitution T G intron_variant MELA-AU 7 43461937 43461937 single base substitution T A intron_variant MELA-AU 7 43461938 43461938 single base substitution C T intron_variant MELA-AU 7 43462060 43462060 single base substitution C T intron_variant MELA-AU 7 43462459 43462459 single base substitution G A intron_variant MELA-AU 7 43462476 43462476 single base substitution C T intron_variant MELA-AU 7 43462862 43462862 single base substitution C T intron_variant MELA-AU 7 43462956 43462956 single base substitution G A intron_variant MELA-AU 7 43463215 43463215 single base substitution G A intron_variant MELA-AU 7 43463504 43463504 single base substitution G A intron_variant MELA-AU 7 43463555 43463555 single base substitution G A intron_variant MELA-AU 7 43463622 43463622 single base substitution G A intron_variant MELA-AU 7 43463712 43463712 single base substitution C T intron_variant MELA-AU 7 43463789 43463789 single base substitution C T intron_variant MELA-AU 7 43463888 43463889 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 7 43463932 43463932 single base substitution G A intron_variant MELA-AU 7 43463998 43463998 single base substitution C T intron_variant MELA-AU 7 43464291 43464291 single base substitution G A intron_variant MELA-AU 7 43464375 43464375 single base substitution G A intron_variant MELA-AU 7 43464430 43464430 single base substitution C T intron_variant MELA-AU 7 43464655 43464655 single base substitution G A intron_variant MELA-AU 7 43464886 43464886 single base substitution G A intron_variant MELA-AU 7 43464893 43464893 single base substitution G A intron_variant MELA-AU 7 43465481 43465481 single base substitution C T intron_variant MELA-AU 7 43465532 43465532 single base substitution C T intron_variant MELA-AU 7 43465591 43465591 single base substitution C T intron_variant MELA-AU 7 43465640 43465640 single base substitution G A intron_variant MELA-AU 7 43465736 43465736 single base substitution T C intron_variant MELA-AU 7 43465841 43465841 single base substitution C T intron_variant MELA-AU 7 43465853 43465853 single base substitution G A intron_variant MELA-AU 7 43466645 43466645 single base substitution G A intron_variant MELA-AU 7 43466675 43466675 single base substitution C T intron_variant MELA-AU 7 43466816 43466816 single base substitution G A intron_variant MELA-AU 7 43466862 43466862 single base substitution G A intron_variant MELA-AU 7 43467053 43467053 single base substitution C T intron_variant MELA-AU 7 43467165 43467165 single base substitution C T intron_variant MELA-AU 7 43467314 43467314 single base substitution G A intron_variant MELA-AU 7 43467347 43467347 single base substitution C T intron_variant MELA-AU 7 43467426 43467426 single base substitution C T intron_variant MELA-AU 7 43467489 43467489 single base substitution C T intron_variant MELA-AU 7 43467614 43467614 single base substitution C T intron_variant MELA-AU 7 43467877 43467878 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 43468079 43468079 single base substitution G A intron_variant MELA-AU 7 43468132 43468132 single base substitution A G intron_variant MELA-AU 7 43468141 43468141 single base substitution G A intron_variant MELA-AU 7 43468204 43468204 single base substitution G A intron_variant MELA-AU 7 43468237 43468237 single base substitution C A intron_variant MELA-AU 7 43468320 43468320 single base substitution C T intron_variant MELA-AU 7 43468328 43468328 single base substitution C T intron_variant MELA-AU 7 43468332 43468332 single base substitution C T intron_variant MELA-AU 7 43468951 43468951 single base substitution C T intron_variant MELA-AU 7 43469171 43469171 single base substitution C T intron_variant MELA-AU 7 43469266 43469266 single base substitution G A intron_variant MELA-AU 7 43469439 43469439 single base substitution C T intron_variant MELA-AU 7 43469771 43469771 single base substitution G A intron_variant MELA-AU 7 43469905 43469905 deletion of <=200bp T - intron_variant MELA-AU 7 43470289 43470289 single base substitution G A intron_variant MELA-AU 7 43470391 43470392 multiple base substitution (>=2bp and <=200bp) TT AC intron_variant MELA-AU 7 43470872 43470872 single base substitution C T intron_variant MELA-AU 7 43471029 43471029 single base substitution C T intron_variant MELA-AU 7 43471377 43471377 single base substitution T C intron_variant MELA-AU 7 43471385 43471385 single base substitution G A intron_variant MELA-AU 7 43471561 43471561 single base substitution G A intron_variant MELA-AU 7 43471618 43471618 single base substitution G A intron_variant MELA-AU 7 43472122 43472122 single base substitution G A intron_variant MELA-AU 7 43472301 43472302 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 43472393 43472393 single base substitution C T intron_variant MELA-AU 7 43472407 43472407 single base substitution C T intron_variant MELA-AU 7 43472641 43472641 single base substitution G A intron_variant MELA-AU 7 43472813 43472813 single base substitution G A intron_variant MELA-AU 7 43472875 43472875 single base substitution C T intron_variant MELA-AU 7 43472934 43472934 single base substitution C T intron_variant MELA-AU 7 43472999 43472999 single base substitution G A intron_variant MELA-AU 7 43473000 43473000 single base substitution G A intron_variant MELA-AU 7 43473066 43473066 single base substitution G A intron_variant MELA-AU 7 43473158 43473158 single base substitution G A intron_variant MELA-AU 7 43473174 43473174 single base substitution G A intron_variant MELA-AU 7 43473210 43473210 single base substitution C T intron_variant MELA-AU 7 43473214 43473214 single base substitution G A intron_variant MELA-AU 7 43473237 43473237 single base substitution C T intron_variant MELA-AU 7 43473296 43473296 single base substitution A C intron_variant MELA-AU 7 43473340 43473340 single base substitution G A intron_variant MELA-AU 7 43473412 43473412 single base substitution G A intron_variant MELA-AU 7 43473613 43473613 single base substitution G A intron_variant MELA-AU 7 43473632 43473632 single base substitution C T intron_variant MELA-AU 7 43473845 43473845 single base substitution T C intron_variant MELA-AU 7 43473858 43473858 single base substitution G A intron_variant MELA-AU 7 43474177 43474177 single base substitution G T intron_variant MELA-AU 7 43474300 43474300 single base substitution G A intron_variant MELA-AU 7 43474327 43474327 single base substitution G A intron_variant MELA-AU 7 43474393 43474393 single base substitution C T intron_variant MELA-AU 7 43474457 43474457 single base substitution G A intron_variant MELA-AU 7 43474548 43474548 single base substitution G A intron_variant MELA-AU 7 43474557 43474557 single base substitution G A intron_variant MELA-AU 7 43474597 43474597 single base substitution C T intron_variant MELA-AU 7 43475198 43475198 single base substitution C T intron_variant MELA-AU 7 43475390 43475390 single base substitution A C intron_variant MELA-AU 7 43475392 43475392 single base substitution C T intron_variant MELA-AU 7 43475645 43475645 single base substitution C T intron_variant MELA-AU 7 43475786 43475786 single base substitution G A intron_variant MELA-AU 7 43475843 43475843 single base substitution C T intron_variant MELA-AU 7 43476075 43476075 single base substitution G A intron_variant MELA-AU 7 43476157 43476157 single base substitution G A intron_variant MELA-AU 7 43476182 43476182 single base substitution G A intron_variant MELA-AU 7 43476283 43476283 single base substitution C T intron_variant MELA-AU 7 43476393 43476393 single base substitution C T intron_variant MELA-AU 7 43476397 43476397 single base substitution T C intron_variant MELA-AU 7 43476728 43476728 single base substitution C T intron_variant MELA-AU 7 43476867 43476867 single base substitution G A intron_variant MELA-AU 7 43477034 43477034 single base substitution G A intron_variant MELA-AU 7 43477105 43477105 single base substitution C T intron_variant MELA-AU 7 43477233 43477233 single base substitution C T intron_variant MELA-AU 7 43477506 43477506 single base substitution G A intron_variant MELA-AU 7 43477543 43477543 single base substitution G A intron_variant MELA-AU 7 43477638 43477638 single base substitution G A exon_variant MELA-AU 7 43477638 43477638 single base substitution G A missense_variant E280K 838G>A MELA-AU 7 43477865 43477865 single base substitution C T exon_variant MELA-AU 7 43477865 43477865 single base substitution C T intron_variant MELA-AU 7 43478035 43478035 single base substitution T A exon_variant MELA-AU 7 43478035 43478035 single base substitution T A intron_variant MELA-AU 7 43478133 43478133 single base substitution C T exon_variant MELA-AU 7 43478133 43478133 single base substitution C T intron_variant MELA-AU 7 43478134 43478134 single base substitution C T exon_variant MELA-AU 7 43478134 43478134 single base substitution C T intron_variant MELA-AU 7 43478503 43478503 single base substitution T A downstream_gene_variant MELA-AU 7 43478503 43478503 single base substitution T A exon_variant MELA-AU 7 43478503 43478503 single base substitution T A intron_variant MELA-AU 7 43478567 43478567 single base substitution G A downstream_gene_variant MELA-AU 7 43478567 43478567 single base substitution G A exon_variant MELA-AU 7 43478567 43478567 single base substitution G A intron_variant MELA-AU 7 43478650 43478650 single base substitution C T downstream_gene_variant MELA-AU 7 43478650 43478650 single base substitution C T exon_variant MELA-AU 7 43478650 43478650 single base substitution C T intron_variant MELA-AU 7 43478790 43478790 single base substitution G A downstream_gene_variant MELA-AU 7 43478790 43478790 single base substitution G A exon_variant MELA-AU 7 43478790 43478790 single base substitution G A intron_variant MELA-AU 7 43478832 43478832 single base substitution C T downstream_gene_variant MELA-AU 7 43478832 43478832 single base substitution C T exon_variant MELA-AU 7 43478832 43478832 single base substitution C T intron_variant MELA-AU 7 43479123 43479123 single base substitution G T downstream_gene_variant MELA-AU 7 43479123 43479123 single base substitution G T exon_variant MELA-AU 7 43479123 43479123 single base substitution G T intron_variant MELA-AU 7 43479159 43479159 single base substitution G A downstream_gene_variant MELA-AU 7 43479159 43479159 single base substitution G A exon_variant MELA-AU 7 43479159 43479159 single base substitution G A intron_variant MELA-AU 7 43479282 43479282 single base substitution C T downstream_gene_variant MELA-AU 7 43479282 43479282 single base substitution C T exon_variant MELA-AU 7 43479282 43479282 single base substitution C T intron_variant MELA-AU 7 43479547 43479547 single base substitution C T downstream_gene_variant MELA-AU 7 43479547 43479547 single base substitution C T exon_variant MELA-AU 7 43479547 43479547 single base substitution C T intron_variant MELA-AU 7 43479707 43479707 single base substitution G A downstream_gene_variant MELA-AU 7 43479707 43479707 single base substitution G A exon_variant MELA-AU 7 43479707 43479707 single base substitution G A intron_variant MELA-AU 7 43479845 43479845 single base substitution C T downstream_gene_variant MELA-AU 7 43479845 43479845 single base substitution C T exon_variant MELA-AU 7 43479845 43479845 single base substitution C T intron_variant MELA-AU 7 43479897 43479897 single base substitution G A downstream_gene_variant MELA-AU 7 43479897 43479897 single base substitution G A exon_variant MELA-AU 7 43479897 43479897 single base substitution G A intron_variant MELA-AU 7 43479916 43479916 single base substitution C T downstream_gene_variant MELA-AU 7 43479916 43479916 single base substitution C T exon_variant MELA-AU 7 43479916 43479916 single base substitution C T intron_variant MELA-AU 7 43480599 43480599 single base substitution G A downstream_gene_variant MELA-AU 7 43480599 43480599 single base substitution G A intron_variant MELA-AU 7 43480757 43480757 single base substitution T G downstream_gene_variant MELA-AU 7 43480757 43480757 single base substitution T G intron_variant MELA-AU 7 43480847 43480847 single base substitution G A downstream_gene_variant MELA-AU 7 43480847 43480847 single base substitution G A intron_variant MELA-AU 7 43480856 43480856 single base substitution G A downstream_gene_variant MELA-AU 7 43480856 43480856 single base substitution G A intron_variant MELA-AU 7 43481236 43481236 single base substitution C T downstream_gene_variant MELA-AU 7 43481236 43481236 single base substitution C T intron_variant MELA-AU 7 43481279 43481279 single base substitution G A downstream_gene_variant MELA-AU 7 43481279 43481279 single base substitution G A intron_variant MELA-AU 7 43481358 43481358 single base substitution G A downstream_gene_variant MELA-AU 7 43481358 43481358 single base substitution G A intron_variant MELA-AU 7 43481527 43481527 single base substitution C T downstream_gene_variant MELA-AU 7 43481527 43481527 single base substitution C T intron_variant MELA-AU 7 43481589 43481589 single base substitution G A downstream_gene_variant MELA-AU 7 43481589 43481589 single base substitution G A intron_variant MELA-AU 7 43481611 43481611 single base substitution C T downstream_gene_variant MELA-AU 7 43481611 43481611 single base substitution C T intron_variant MELA-AU 7 43481946 43481946 single base substitution C T downstream_gene_variant MELA-AU 7 43481946 43481946 single base substitution C T intron_variant MELA-AU 7 43482120 43482120 single base substitution C T downstream_gene_variant MELA-AU 7 43482120 43482120 single base substitution C T splice_region_variant MELA-AU 7 43482214 43482214 single base substitution C T downstream_gene_variant MELA-AU 7 43482214 43482214 single base substitution C T missense_variant S344F 1031C>T MELA-AU 7 43482217 43482217 single base substitution C T downstream_gene_variant MELA-AU 7 43482217 43482217 single base substitution C T missense_variant S345F 1034C>T MELA-AU 7 43482401 43482401 single base substitution C T downstream_gene_variant MELA-AU 7 43482401 43482401 single base substitution C T intron_variant MELA-AU 7 43482418 43482418 single base substitution C T downstream_gene_variant MELA-AU 7 43482418 43482418 single base substitution C T intron_variant MELA-AU 7 43482521 43482521 single base substitution C T downstream_gene_variant MELA-AU 7 43482521 43482521 single base substitution C T intron_variant MELA-AU 7 43482723 43482723 single base substitution C T downstream_gene_variant MELA-AU 7 43482723 43482723 single base substitution C T intron_variant MELA-AU 7 43482912 43482912 single base substitution G A downstream_gene_variant MELA-AU 7 43482912 43482912 single base substitution G A intron_variant MELA-AU 7 43483096 43483096 single base substitution G A downstream_gene_variant MELA-AU 7 43483096 43483096 single base substitution G A intron_variant MELA-AU 7 43483146 43483146 single base substitution C T downstream_gene_variant MELA-AU 7 43483146 43483146 single base substitution C T intron_variant MELA-AU 7 43483184 43483184 single base substitution G A downstream_gene_variant MELA-AU 7 43483184 43483184 single base substitution G A intron_variant MELA-AU 7 43483402 43483402 single base substitution G A downstream_gene_variant MELA-AU 7 43483402 43483402 single base substitution G A intron_variant MELA-AU 7 43483470 43483470 single base substitution C T downstream_gene_variant MELA-AU 7 43483470 43483470 single base substitution C T intron_variant MELA-AU 7 43483478 43483478 single base substitution C T downstream_gene_variant MELA-AU 7 43483478 43483478 single base substitution C T intron_variant MELA-AU 7 43483590 43483590 single base substitution C T downstream_gene_variant MELA-AU 7 43483590 43483590 single base substitution C T intron_variant MELA-AU 7 43483672 43483672 single base substitution C T downstream_gene_variant MELA-AU 7 43483672 43483672 single base substitution C T intron_variant MELA-AU 7 43483726 43483726 single base substitution C T downstream_gene_variant MELA-AU 7 43483726 43483726 single base substitution C T intron_variant MELA-AU 7 43483832 43483832 single base substitution C T downstream_gene_variant MELA-AU 7 43483832 43483832 single base substitution C T missense_variant S354F 1061C>T MELA-AU 7 43484072 43484072 single base substitution G A downstream_gene_variant MELA-AU 7 43484072 43484072 single base substitution G A missense_variant G434E 1301G>A MELA-AU 7 43484264 43484264 single base substitution G A downstream_gene_variant MELA-AU 7 43484264 43484264 single base substitution G A missense_variant G498E 1493G>A MELA-AU 7 43484269 43484269 single base substitution G A downstream_gene_variant MELA-AU 7 43484269 43484269 single base substitution G A missense_variant E500K 1498G>A MELA-AU 7 43484309 43484309 single base substitution C T downstream_gene_variant MELA-AU 7 43484309 43484309 single base substitution C T missense_variant S513F 1538C>T MELA-AU 7 43484333 43484333 single base substitution G A downstream_gene_variant MELA-AU 7 43484333 43484333 single base substitution G A missense_variant R521K 1562G>A MELA-AU 7 43484378 43484378 single base substitution C T downstream_gene_variant MELA-AU 7 43484378 43484378 single base substitution C T missense_variant S536F 1607C>T MELA-AU 7 43484435 43484435 single base substitution C T downstream_gene_variant MELA-AU 7 43484435 43484435 single base substitution C T missense_variant T555I 1664C>T MELA-AU 7 43484511 43484511 single base substitution G A downstream_gene_variant MELA-AU 7 43484511 43484511 single base substitution G A synonymous_variant E580E 1740G>A MELA-AU 7 43484569 43484569 single base substitution C T downstream_gene_variant MELA-AU 7 43484569 43484569 single base substitution C T missense_variant L600F 1798C>T MELA-AU 7 43484586 43484586 single base substitution G A downstream_gene_variant MELA-AU 7 43484586 43484586 single base substitution G A synonymous_variant T605T 1815G>A MELA-AU 7 43484682 43484682 single base substitution C T downstream_gene_variant MELA-AU 7 43484682 43484682 single base substitution C T synonymous_variant F637F 1911C>T MELA-AU 7 43484858 43484858 single base substitution C T downstream_gene_variant MELA-AU 7 43484858 43484858 single base substitution C T missense_variant S696L 2087C>T MELA-AU 7 43484965 43484965 single base substitution G A downstream_gene_variant MELA-AU 7 43484965 43484965 single base substitution G A missense_variant V732I 2194G>A MELA-AU 7 43485862 43485862 single base substitution C T intron_variant MELA-AU 7 43485955 43485955 single base substitution C T intron_variant MELA-AU 7 43485965 43485965 single base substitution G A intron_variant MELA-AU 7 43486008 43486008 single base substitution G A intron_variant MELA-AU 7 43486435 43486435 single base substitution C T intron_variant MELA-AU 7 43487339 43487339 single base substitution T C intron_variant MELA-AU 7 43487449 43487449 single base substitution G A intron_variant MELA-AU 7 43487455 43487455 single base substitution G A intron_variant MELA-AU 7 43487551 43487552 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 43487628 43487628 single base substitution G A intron_variant MELA-AU 7 43487661 43487661 single base substitution G A intron_variant MELA-AU 7 43487671 43487671 single base substitution T C intron_variant MELA-AU 7 43487688 43487688 single base substitution C T intron_variant MELA-AU 7 43488051 43488051 single base substitution C T intron_variant MELA-AU 7 43488327 43488327 single base substitution A G intron_variant MELA-AU 7 43488385 43488385 single base substitution T C intron_variant MELA-AU 7 43488402 43488402 single base substitution G A intron_variant MELA-AU 7 43488675 43488675 single base substitution G A intron_variant MELA-AU 7 43488945 43488945 single base substitution C T intron_variant MELA-AU 7 43489031 43489031 single base substitution C T intron_variant MELA-AU 7 43489111 43489111 single base substitution A T intron_variant MELA-AU 7 43489166 43489166 single base substitution C T intron_variant MELA-AU 7 43489844 43489844 single base substitution C T intron_variant MELA-AU 7 43489878 43489878 single base substitution G A intron_variant MELA-AU 7 43489911 43489911 single base substitution C T intron_variant MELA-AU 7 43489939 43489939 single base substitution C T intron_variant MELA-AU 7 43490150 43490150 single base substitution G A intron_variant MELA-AU 7 43490866 43490866 single base substitution A T intron_variant MELA-AU 7 43490893 43490893 single base substitution C T intron_variant MELA-AU 7 43490997 43490997 single base substitution C T intron_variant MELA-AU 7 43491150 43491150 single base substitution C T intron_variant MELA-AU 7 43491341 43491341 single base substitution G A intron_variant MELA-AU 7 43491353 43491353 single base substitution T C intron_variant MELA-AU 7 43491365 43491365 single base substitution A G intron_variant MELA-AU 7 43491435 43491435 single base substitution A G intron_variant MELA-AU 7 43491524 43491524 single base substitution G A intron_variant MELA-AU 7 43491626 43491626 single base substitution C T intron_variant MELA-AU 7 43491966 43491966 single base substitution C T intron_variant MELA-AU 7 43491982 43491982 single base substitution C T intron_variant MELA-AU 7 43492173 43492173 single base substitution A T intron_variant MELA-AU 7 43492225 43492225 single base substitution C T intron_variant MELA-AU 7 43492315 43492315 single base substitution G A intron_variant MELA-AU 7 43492484 43492484 single base substitution G A intron_variant MELA-AU 7 43492532 43492532 single base substitution G A intron_variant MELA-AU 7 43492617 43492617 single base substitution C T intron_variant MELA-AU 7 43492624 43492624 single base substitution G A intron_variant MELA-AU 7 43492738 43492738 single base substitution G A intron_variant MELA-AU 7 43493003 43493003 single base substitution G A intron_variant MELA-AU 7 43493727 43493727 single base substitution C T intron_variant MELA-AU 7 43493765 43493765 single base substitution C A intron_variant MELA-AU 7 43493945 43493945 single base substitution G A intron_variant MELA-AU 7 43494047 43494047 single base substitution T C intron_variant MELA-AU 7 43494347 43494347 single base substitution A G intron_variant MELA-AU 7 43494791 43494791 single base substitution C T intron_variant MELA-AU 7 43495001 43495001 single base substitution G C intron_variant MELA-AU 7 43495527 43495527 single base substitution G A intron_variant MELA-AU 7 43496198 43496198 single base substitution G A intron_variant MELA-AU 7 43496318 43496318 single base substitution G A intron_variant MELA-AU 7 43496457 43496457 single base substitution G A intron_variant MELA-AU 7 43496966 43496966 single base substitution G A intron_variant MELA-AU 7 43497254 43497254 single base substitution A G intron_variant MELA-AU 7 43497288 43497288 single base substitution C T intron_variant MELA-AU 7 43497351 43497351 single base substitution G A intron_variant MELA-AU 7 43498039 43498039 single base substitution G C intron_variant MELA-AU 7 43498168 43498168 single base substitution G A intron_variant MELA-AU 7 43498258 43498258 single base substitution C T intron_variant MELA-AU 7 43498685 43498685 single base substitution C T intron_variant MELA-AU 7 43498761 43498761 single base substitution A G intron_variant MELA-AU 7 43498938 43498938 single base substitution C T intron_variant MELA-AU 7 43499109 43499109 single base substitution A T intron_variant MELA-AU 7 43499171 43499171 single base substitution C T intron_variant MELA-AU 7 43499175 43499175 single base substitution C T intron_variant MELA-AU 7 43499247 43499247 single base substitution C T intron_variant MELA-AU 7 43499280 43499280 single base substitution G A intron_variant MELA-AU 7 43499286 43499286 single base substitution A C intron_variant MELA-AU 7 43499333 43499333 single base substitution C T intron_variant MELA-AU 7 43499378 43499378 single base substitution C T intron_variant MELA-AU 7 43499379 43499379 single base substitution C T intron_variant MELA-AU 7 43499541 43499541 single base substitution C T intron_variant MELA-AU 7 43499755 43499755 single base substitution C T intron_variant MELA-AU 7 43499774 43499774 single base substitution G A intron_variant MELA-AU 7 43500194 43500194 single base substitution T A intron_variant MELA-AU 7 43500320 43500320 single base substitution C T intron_variant MELA-AU 7 43500411 43500411 single base substitution C T intron_variant MELA-AU 7 43500462 43500462 single base substitution G A intron_variant MELA-AU 7 43500499 43500500 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 43500788 43500788 single base substitution C T intron_variant MELA-AU 7 43501044 43501044 single base substitution C T intron_variant MELA-AU 7 43501387 43501387 single base substitution G A intron_variant MELA-AU 7 43501660 43501660 single base substitution G A intron_variant MELA-AU 7 43501862 43501862 single base substitution C T intron_variant MELA-AU 7 43502077 43502077 single base substitution G A intron_variant MELA-AU 7 43502092 43502092 single base substitution G A intron_variant MELA-AU 7 43502117 43502117 single base substitution G A intron_variant MELA-AU 7 43502368 43502368 single base substitution A G intron_variant MELA-AU 7 43502665 43502665 single base substitution G A intron_variant MELA-AU 7 43503128 43503128 single base substitution G A intron_variant MELA-AU 7 43503503 43503503 single base substitution G A intron_variant MELA-AU 7 43503551 43503552 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 43503597 43503597 single base substitution G A intron_variant MELA-AU 7 43503678 43503678 single base substitution G A intron_variant MELA-AU 7 43503811 43503811 single base substitution G A intron_variant MELA-AU 7 43503921 43503921 single base substitution C T intron_variant MELA-AU 7 43503979 43503979 single base substitution T A intron_variant MELA-AU 7 43503982 43503982 single base substitution C T intron_variant MELA-AU 7 43504324 43504324 single base substitution C T intron_variant MELA-AU 7 43504342 43504342 single base substitution C T intron_variant MELA-AU 7 43504392 43504392 single base substitution G A intron_variant MELA-AU 7 43504930 43504930 single base substitution C T intron_variant MELA-AU 7 43504997 43504997 single base substitution G A intron_variant MELA-AU 7 43505086 43505086 single base substitution G A intron_variant MELA-AU 7 43505327 43505327 single base substitution G A intron_variant MELA-AU 7 43505353 43505353 single base substitution G A intron_variant MELA-AU 7 43505604 43505604 single base substitution G A intron_variant MELA-AU 7 43505665 43505665 single base substitution G A intron_variant MELA-AU 7 43505701 43505701 single base substitution G A intron_variant MELA-AU 7 43506642 43506642 single base substitution C T intron_variant MELA-AU 7 43506813 43506813 single base substitution G A intron_variant MELA-AU 7 43507353 43507353 single base substitution G A intron_variant MELA-AU 7 43507768 43507768 single base substitution A G intron_variant MELA-AU 7 43508317 43508317 single base substitution C T intron_variant MELA-AU 7 43508475 43508475 single base substitution C T intron_variant MELA-AU 7 43508501 43508501 single base substitution C T intron_variant MELA-AU 7 43508700 43508701 multiple base substitution (>=2bp and <=200bp) GA AC missense_variant G1032D 3095GA>AC MELA-AU 7 43508700 43508701 multiple base substitution (>=2bp and <=200bp) GA AC missense_variant G998D 2993GA>AC MELA-AU 7 43509275 43509275 single base substitution C T intron_variant MELA-AU 7 43509407 43509407 single base substitution G A intron_variant MELA-AU 7 43509428 43509429 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 43509540 43509540 single base substitution C T intron_variant MELA-AU 7 43509685 43509685 single base substitution G A intron_variant MELA-AU 7 43509897 43509897 single base substitution C T intron_variant MELA-AU 7 43510203 43510203 single base substitution G A intron_variant MELA-AU 7 43510819 43510819 single base substitution T C intron_variant MELA-AU 7 43511068 43511068 single base substitution G C intron_variant MELA-AU 7 43512001 43512001 single base substitution G A intron_variant MELA-AU 7 43512065 43512065 single base substitution G A intron_variant MELA-AU 7 43512432 43512432 single base substitution C T intron_variant MELA-AU 7 43512455 43512455 single base substitution G A intron_variant MELA-AU 7 43512562 43512562 single base substitution C T intron_variant MELA-AU 7 43512898 43512898 single base substitution C T intron_variant MELA-AU 7 43513156 43513156 single base substitution G A intron_variant MELA-AU 7 43513704 43513704 single base substitution G A intron_variant MELA-AU 7 43513710 43513710 single base substitution C T intron_variant MELA-AU 7 43513730 43513730 single base substitution T A intron_variant MELA-AU 7 43513825 43513825 single base substitution G A intron_variant MELA-AU 7 43513831 43513831 single base substitution G A intron_variant MELA-AU 7 43514077 43514077 single base substitution C T intron_variant MELA-AU 7 43514088 43514088 single base substitution G A intron_variant MELA-AU 7 43514188 43514188 single base substitution C T intron_variant MELA-AU 7 43514231 43514231 single base substitution G A intron_variant MELA-AU 7 43514231 43514231 single base substitution G A upstream_gene_variant MELA-AU 7 43514413 43514413 single base substitution G A intron_variant MELA-AU 7 43514413 43514413 single base substitution G A upstream_gene_variant MELA-AU 7 43514660 43514660 single base substitution A G intron_variant MELA-AU 7 43514660 43514660 single base substitution A G upstream_gene_variant MELA-AU 7 43514762 43514762 single base substitution G A intron_variant MELA-AU 7 43514762 43514762 single base substitution G A upstream_gene_variant MELA-AU 7 43515149 43515149 single base substitution A T intron_variant MELA-AU 7 43515149 43515149 single base substitution A T upstream_gene_variant MELA-AU 7 43515275 43515275 single base substitution G A intron_variant MELA-AU 7 43515275 43515275 single base substitution G A upstream_gene_variant MELA-AU 7 43515314 43515314 single base substitution C T intron_variant MELA-AU 7 43515314 43515314 single base substitution C T upstream_gene_variant MELA-AU 7 43515387 43515387 single base substitution C T intron_variant MELA-AU 7 43515387 43515387 single base substitution C T upstream_gene_variant MELA-AU 7 43515664 43515664 single base substitution G A intron_variant MELA-AU 7 43515664 43515664 single base substitution G A upstream_gene_variant MELA-AU 7 43515958 43515958 single base substitution G A intron_variant MELA-AU 7 43515958 43515958 single base substitution G A upstream_gene_variant MELA-AU 7 43516173 43516173 single base substitution G A intron_variant MELA-AU 7 43516173 43516173 single base substitution G A upstream_gene_variant MELA-AU 7 43516182 43516182 single base substitution C T intron_variant MELA-AU 7 43516182 43516182 single base substitution C T upstream_gene_variant MELA-AU 7 43516337 43516337 single base substitution G A intron_variant MELA-AU 7 43516337 43516337 single base substitution G A upstream_gene_variant MELA-AU 7 43516461 43516461 single base substitution C T intron_variant MELA-AU 7 43516461 43516461 single base substitution C T upstream_gene_variant MELA-AU 7 43516464 43516464 single base substitution G A intron_variant MELA-AU 7 43516464 43516464 single base substitution G A upstream_gene_variant MELA-AU 7 43516631 43516631 single base substitution G A intron_variant MELA-AU 7 43516631 43516631 single base substitution G A upstream_gene_variant MELA-AU 7 43517273 43517274 multiple base substitution (>=2bp and <=200bp) TC GT intron_variant MELA-AU 7 43517273 43517274 multiple base substitution (>=2bp and <=200bp) TC GT upstream_gene_variant MELA-AU 7 43517295 43517295 single base substitution T G intron_variant MELA-AU 7 43517295 43517295 single base substitution T G upstream_gene_variant MELA-AU 7 43517309 43517309 single base substitution C T intron_variant MELA-AU 7 43517309 43517309 single base substitution C T upstream_gene_variant MELA-AU 7 43517388 43517388 single base substitution A C intron_variant MELA-AU 7 43517388 43517388 single base substitution A C upstream_gene_variant MELA-AU 7 43518016 43518016 single base substitution C T intron_variant MELA-AU 7 43518016 43518016 single base substitution C T upstream_gene_variant MELA-AU 7 43518041 43518041 single base substitution G A intron_variant MELA-AU 7 43518041 43518041 single base substitution G A upstream_gene_variant MELA-AU 7 43518157 43518157 single base substitution G A intron_variant MELA-AU 7 43518157 43518157 single base substitution G A upstream_gene_variant MELA-AU 7 43518266 43518266 single base substitution G A intron_variant MELA-AU 7 43518266 43518266 single base substitution G A upstream_gene_variant MELA-AU 7 43518281 43518281 single base substitution G A intron_variant MELA-AU 7 43518281 43518281 single base substitution G A upstream_gene_variant MELA-AU 7 43518923 43518923 single base substitution G A intron_variant MELA-AU 7 43518923 43518923 single base substitution G A upstream_gene_variant MELA-AU 7 43519111 43519111 single base substitution C T intron_variant MELA-AU 7 43519111 43519111 single base substitution C T upstream_gene_variant MELA-AU 7 43519284 43519284 single base substitution C T exon_variant MELA-AU 7 43519284 43519284 single base substitution C T missense_variant P1025S 3073C>T MELA-AU 7 43519284 43519284 single base substitution C T missense_variant P1059S 3175C>T MELA-AU 7 43519284 43519284 single base substitution C T missense_variant P11S 31C>T MELA-AU 7 43519316 43519316 single base substitution G A exon_variant MELA-AU 7 43519316 43519316 single base substitution G A synonymous_variant Q1035Q 3105G>A MELA-AU 7 43519316 43519316 single base substitution G A synonymous_variant Q1069Q 3207G>A MELA-AU 7 43519316 43519316 single base substitution G A synonymous_variant Q21Q 63G>A MELA-AU 7 43519430 43519430 single base substitution G A intron_variant MELA-AU 7 43519626 43519626 single base substitution C T intron_variant MELA-AU 7 43520040 43520040 single base substitution C T intron_variant MELA-AU 7 43520093 43520094 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 43520299 43520299 single base substitution C T intron_variant MELA-AU 7 43520383 43520383 single base substitution G A intron_variant MELA-AU 7 43520423 43520423 single base substitution C T intron_variant MELA-AU 7 43520702 43520702 single base substitution G A intron_variant MELA-AU 7 43521144 43521144 single base substitution G A intron_variant MELA-AU 7 43521153 43521153 single base substitution G A intron_variant MELA-AU 7 43521171 43521171 single base substitution T A intron_variant MELA-AU 7 43521284 43521284 single base substitution C T intron_variant MELA-AU 7 43521349 43521349 single base substitution C T intron_variant MELA-AU 7 43521366 43521366 single base substitution G A intron_variant MELA-AU 7 43521523 43521523 single base substitution G A intron_variant MELA-AU 7 43521671 43521671 single base substitution C T intron_variant MELA-AU 7 43521874 43521874 single base substitution C T intron_variant MELA-AU 7 43522203 43522203 single base substitution T A intron_variant MELA-AU 7 43522398 43522398 single base substitution G A intron_variant MELA-AU 7 43522422 43522422 single base substitution T G intron_variant MELA-AU 7 43522541 43522541 single base substitution C T intron_variant MELA-AU 7 43522745 43522745 single base substitution G A intron_variant MELA-AU 7 43522826 43522826 single base substitution A C intron_variant MELA-AU 7 43522920 43522920 single base substitution C T intron_variant MELA-AU 7 43523389 43523389 single base substitution C T intron_variant MELA-AU 7 43523406 43523406 single base substitution C T intron_variant MELA-AU 7 43523598 43523598 single base substitution G A intron_variant MELA-AU 7 43524065 43524065 single base substitution G A exon_variant MELA-AU 7 43524065 43524065 single base substitution G A intron_variant MELA-AU 7 43524213 43524213 single base substitution A G exon_variant MELA-AU 7 43524213 43524213 single base substitution A G intron_variant MELA-AU 7 43524292 43524292 single base substitution G A downstream_gene_variant MELA-AU 7 43524292 43524292 single base substitution G A intron_variant MELA-AU 7 43524335 43524335 single base substitution G A downstream_gene_variant MELA-AU 7 43524335 43524335 single base substitution G A intron_variant MELA-AU 7 43524849 43524849 single base substitution G A downstream_gene_variant MELA-AU 7 43524849 43524849 single base substitution G A intron_variant MELA-AU 7 43524961 43524961 single base substitution C T downstream_gene_variant MELA-AU 7 43524961 43524961 single base substitution C T intron_variant MELA-AU 7 43525752 43525752 single base substitution C T downstream_gene_variant MELA-AU 7 43525752 43525752 single base substitution C T intron_variant MELA-AU 7 43525991 43525991 single base substitution C T downstream_gene_variant MELA-AU 7 43525991 43525991 single base substitution C T intron_variant MELA-AU 7 43526094 43526094 single base substitution G A downstream_gene_variant MELA-AU 7 43526094 43526094 single base substitution G A intron_variant MELA-AU 7 43526393 43526393 single base substitution G A downstream_gene_variant MELA-AU 7 43526393 43526393 single base substitution G A intron_variant MELA-AU 7 43526779 43526779 single base substitution G A downstream_gene_variant MELA-AU 7 43526779 43526779 single base substitution G A intron_variant MELA-AU 7 43527096 43527096 single base substitution C T downstream_gene_variant MELA-AU 7 43527096 43527096 single base substitution C T intron_variant MELA-AU 7 43527228 43527228 single base substitution G A downstream_gene_variant MELA-AU 7 43527228 43527228 single base substitution G A intron_variant MELA-AU 7 43527335 43527335 single base substitution C T downstream_gene_variant MELA-AU 7 43527335 43527335 single base substitution C T intron_variant MELA-AU 7 43527440 43527440 single base substitution C T downstream_gene_variant MELA-AU 7 43527440 43527440 single base substitution C T intron_variant MELA-AU 7 43527742 43527742 single base substitution C T downstream_gene_variant MELA-AU 7 43527742 43527742 single base substitution C T intron_variant MELA-AU 7 43527969 43527969 single base substitution G A downstream_gene_variant MELA-AU 7 43527969 43527969 single base substitution G A intron_variant MELA-AU 7 43527998 43527998 single base substitution G A downstream_gene_variant MELA-AU 7 43527998 43527998 single base substitution G A intron_variant MELA-AU 7 43528013 43528013 single base substitution G A downstream_gene_variant MELA-AU 7 43528013 43528013 single base substitution G A intron_variant MELA-AU 7 43528023 43528023 single base substitution A G downstream_gene_variant MELA-AU 7 43528023 43528023 single base substitution A G intron_variant MELA-AU 7 43528190 43528191 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 43528190 43528191 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 43528451 43528451 single base substitution C T downstream_gene_variant MELA-AU 7 43528451 43528451 single base substitution C T intron_variant MELA-AU 7 43528487 43528487 single base substitution G A downstream_gene_variant MELA-AU 7 43528487 43528487 single base substitution G A intron_variant MELA-AU 7 43529256 43529256 single base substitution C T intron_variant MELA-AU 7 43529484 43529484 single base substitution G A intron_variant MELA-AU 7 43529485 43529485 single base substitution G A intron_variant MELA-AU 7 43529583 43529583 single base substitution C T intron_variant MELA-AU 7 43529833 43529833 single base substitution A C intron_variant MELA-AU 7 43530386 43530386 single base substitution T C intron_variant MELA-AU 7 43530475 43530475 single base substitution G A intron_variant MELA-AU 7 43530541 43530541 single base substitution G A intron_variant MELA-AU 7 43530878 43530878 single base substitution C T intron_variant MELA-AU 7 43531284 43531284 single base substitution C T intron_variant MELA-AU 7 43531884 43531884 single base substitution A G intron_variant MELA-AU 7 43532000 43532000 single base substitution C T intron_variant MELA-AU 7 43532020 43532020 single base substitution C T intron_variant MELA-AU 7 43532071 43532071 single base substitution C T intron_variant MELA-AU 7 43532441 43532441 single base substitution C T intron_variant MELA-AU 7 43532468 43532468 single base substitution G C intron_variant MELA-AU 7 43532511 43532511 single base substitution T G intron_variant MELA-AU 7 43532625 43532625 single base substitution C T intron_variant MELA-AU 7 43533357 43533357 single base substitution C T intron_variant MELA-AU 7 43533361 43533361 single base substitution C T intron_variant MELA-AU 7 43533610 43533610 single base substitution C T intron_variant MELA-AU 7 43533817 43533817 single base substitution C T intron_variant MELA-AU 7 43533894 43533894 single base substitution C T intron_variant MELA-AU 7 43533973 43533973 single base substitution G A intron_variant MELA-AU 7 43534057 43534057 single base substitution C T intron_variant MELA-AU 7 43534373 43534373 single base substitution A C intron_variant MELA-AU 7 43534853 43534853 single base substitution C T intron_variant MELA-AU 7 43535196 43535196 single base substitution G A intron_variant MELA-AU 7 43535562 43535562 single base substitution C T intron_variant MELA-AU 7 43535573 43535573 single base substitution C T intron_variant MELA-AU 7 43535834 43535834 single base substitution C T intron_variant MELA-AU 7 43535836 43535836 single base substitution C T intron_variant MELA-AU 7 43536085 43536085 single base substitution G A intron_variant MELA-AU 7 43536134 43536134 single base substitution C T intron_variant MELA-AU 7 43536214 43536214 single base substitution G A intron_variant MELA-AU 7 43536492 43536492 single base substitution C T intron_variant MELA-AU 7 43537004 43537004 single base substitution G A intron_variant MELA-AU 7 43537370 43537370 single base substitution A G intron_variant MELA-AU 7 43537519 43537519 single base substitution C T intron_variant MELA-AU 7 43537641 43537641 single base substitution G A intron_variant MELA-AU 7 43537773 43537773 single base substitution G A intron_variant MELA-AU 7 43537803 43537803 single base substitution C T intron_variant MELA-AU 7 43537948 43537948 single base substitution G A intron_variant MELA-AU 7 43537950 43537950 single base substitution G A intron_variant MELA-AU 7 43537980 43537980 single base substitution C T intron_variant MELA-AU 7 43537981 43537981 single base substitution C T intron_variant MELA-AU 7 43538010 43538010 single base substitution G A intron_variant MELA-AU 7 43538211 43538211 single base substitution C T intron_variant MELA-AU 7 43538329 43538329 single base substitution C T intron_variant MELA-AU 7 43538514 43538514 single base substitution A G intron_variant MELA-AU 7 43539135 43539135 single base substitution G A intron_variant MELA-AU 7 43539273 43539273 single base substitution C T intron_variant MELA-AU 7 43539423 43539423 single base substitution C T intron_variant MELA-AU 7 43539905 43539905 single base substitution C T intron_variant MELA-AU 7 43540031 43540031 single base substitution G A intron_variant MELA-AU 7 43540308 43540308 single base substitution C T intron_variant MELA-AU 7 43540308 43540308 single base substitution C T missense_variant H1116Y 3346C>T MELA-AU 7 43540308 43540308 single base substitution C T missense_variant H1150Y 3448C>T MELA-AU 7 43540519 43540519 single base substitution G A intron_variant MELA-AU 7 43541918 43541918 single base substitution C T intron_variant MELA-AU 7 43542892 43542892 single base substitution G A intron_variant MELA-AU 7 43542918 43542918 single base substitution G A intron_variant MELA-AU 7 43543282 43543282 single base substitution C T intron_variant MELA-AU 7 43543304 43543304 single base substitution G A intron_variant MELA-AU 7 43543330 43543330 single base substitution G A intron_variant MELA-AU 7 43543667 43543667 single base substitution C T intron_variant MELA-AU 7 43543761 43543761 single base substitution C T intron_variant MELA-AU 7 43544113 43544113 single base substitution G C intron_variant MELA-AU 7 43544277 43544277 single base substitution G A intron_variant MELA-AU 7 43544298 43544298 single base substitution C T intron_variant MELA-AU 7 43544328 43544328 single base substitution C T intron_variant MELA-AU 7 43544495 43544495 single base substitution G A intron_variant MELA-AU 7 43545013 43545013 single base substitution C T intron_variant MELA-AU 7 43545502 43545502 single base substitution C T intron_variant MELA-AU 7 43546027 43546027 single base substitution G A intron_variant MELA-AU 7 43546182 43546182 single base substitution C T intron_variant MELA-AU 7 43546386 43546386 single base substitution C T intron_variant MELA-AU 7 43546593 43546593 single base substitution C A intron_variant MELA-AU 7 43546987 43546987 single base substitution G A intron_variant MELA-AU 7 43546994 43546994 single base substitution G A intron_variant MELA-AU 7 43547200 43547200 single base substitution G A intron_variant MELA-AU 7 43547283 43547283 single base substitution C T intron_variant MELA-AU 7 43547366 43547366 single base substitution G A intron_variant MELA-AU 7 43547506 43547506 single base substitution C T intron_variant MELA-AU 7 43547627 43547627 single base substitution C T intron_variant MELA-AU 7 43547627 43547627 single base substitution C T missense_variant R1221C 3661C>T MELA-AU 7 43547627 43547627 single base substitution C T missense_variant R1255C 3763C>T MELA-AU 7 43547873 43547873 single base substitution C T intron_variant MELA-AU 7 43548000 43548000 single base substitution G C intron_variant MELA-AU 7 43548227 43548227 single base substitution G A intron_variant MELA-AU 7 43548605 43548605 single base substitution C T intron_variant MELA-AU 7 43548605 43548605 single base substitution C T missense_variant L1268F 3802C>T MELA-AU 7 43548605 43548605 single base substitution C T missense_variant L1302F 3904C>T MELA-AU 7 43548866 43548866 single base substitution G C intron_variant MELA-AU 7 43549077 43549077 single base substitution C T intron_variant MELA-AU 7 43549084 43549084 single base substitution G A intron_variant MELA-AU 7 43549178 43549178 single base substitution G A intron_variant MELA-AU 7 43549219 43549219 single base substitution G A intron_variant MELA-AU 7 43549404 43549404 single base substitution G A intron_variant MELA-AU 7 43549425 43549425 single base substitution G A intron_variant MELA-AU 7 43549492 43549492 single base substitution G A intron_variant MELA-AU 7 43549571 43549571 single base substitution C T intron_variant MELA-AU 7 43549948 43549948 single base substitution C T intron_variant MELA-AU 7 43550034 43550034 single base substitution C T intron_variant MELA-AU 7 43550108 43550108 single base substitution C T intron_variant MELA-AU 7 43550264 43550264 single base substitution G A intron_variant MELA-AU 7 43550362 43550362 single base substitution G A intron_variant MELA-AU 7 43550466 43550466 single base substitution A G intron_variant MELA-AU 7 43550504 43550504 single base substitution G A intron_variant MELA-AU 7 43550688 43550688 single base substitution G A intron_variant MELA-AU 7 43550735 43550735 single base substitution G A intron_variant MELA-AU 7 43550739 43550739 single base substitution T G intron_variant MELA-AU 7 43550989 43550989 single base substitution G A intron_variant MELA-AU 7 43550991 43550991 single base substitution A G intron_variant MELA-AU 7 43552127 43552127 single base substitution G A intron_variant MELA-AU 7 43552411 43552411 single base substitution C T intron_variant MELA-AU 7 43552720 43552720 single base substitution T C intron_variant MELA-AU 7 43553505 43553506 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 43554152 43554152 single base substitution T G intron_variant MELA-AU 7 43554193 43554193 single base substitution C T intron_variant MELA-AU 7 43554472 43554472 single base substitution G A intron_variant MELA-AU 7 43554787 43554787 single base substitution C A intron_variant MELA-AU 7 43555339 43555339 single base substitution T G intron_variant MELA-AU 7 43555747 43555747 single base substitution C T intron_variant MELA-AU 7 43555774 43555774 single base substitution G A intron_variant MELA-AU 7 43555867 43555867 single base substitution G A intron_variant MELA-AU 7 43555895 43555895 single base substitution G C intron_variant MELA-AU 7 43555934 43555935 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 43556301 43556301 single base substitution G A intron_variant MELA-AU 7 43556524 43556524 single base substitution G C intron_variant MELA-AU 7 43556554 43556554 single base substitution G C intron_variant MELA-AU 7 43556636 43556636 single base substitution G A intron_variant MELA-AU 7 43556755 43556755 single base substitution G T intron_variant MELA-AU 7 43556887 43556887 single base substitution C T intron_variant MELA-AU 7 43557040 43557040 single base substitution G A intron_variant MELA-AU 7 43557113 43557113 single base substitution G A intron_variant MELA-AU 7 43557215 43557215 single base substitution C T intron_variant MELA-AU 7 43557250 43557250 single base substitution G A intron_variant MELA-AU 7 43557277 43557277 single base substitution G A intron_variant MELA-AU 7 43557278 43557278 single base substitution G A intron_variant MELA-AU 7 43557303 43557303 single base substitution G A intron_variant MELA-AU 7 43557307 43557307 single base substitution A G intron_variant MELA-AU 7 43557473 43557473 single base substitution G A intron_variant MELA-AU 7 43557546 43557546 single base substitution G A intron_variant MELA-AU 7 43557657 43557657 single base substitution G A intron_variant MELA-AU 7 43558426 43558426 single base substitution G A intron_variant MELA-AU 7 43558908 43558908 single base substitution G A intron_variant MELA-AU 7 43559087 43559087 single base substitution C T intron_variant MELA-AU 7 43559107 43559107 single base substitution T G intron_variant MELA-AU 7 43559357 43559357 single base substitution C T intron_variant MELA-AU 7 43559667 43559667 single base substitution A G intron_variant MELA-AU 7 43559924 43559924 single base substitution G A intron_variant MELA-AU 7 43559929 43559929 single base substitution G A intron_variant MELA-AU 7 43560070 43560070 single base substitution G A intron_variant MELA-AU 7 43560322 43560322 single base substitution G A intron_variant MELA-AU 7 43560391 43560391 single base substitution C T intron_variant MELA-AU 7 43560466 43560466 single base substitution C T intron_variant MELA-AU 7 43560815 43560815 single base substitution G A intron_variant MELA-AU 7 43561166 43561167 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 43561180 43561180 single base substitution G A intron_variant MELA-AU 7 43561204 43561204 single base substitution G A intron_variant MELA-AU 7 43561357 43561357 single base substitution C T intron_variant MELA-AU 7 43561511 43561511 single base substitution G A intron_variant MELA-AU 7 43562126 43562126 single base substitution C T intron_variant MELA-AU 7 43562266 43562266 single base substitution G A intron_variant MELA-AU 7 43562294 43562294 single base substitution G A intron_variant MELA-AU 7 43562440 43562440 single base substitution G A intron_variant MELA-AU 7 43562644 43562644 single base substitution C T intron_variant MELA-AU 7 43562644 43562644 single base substitution C T splice_region_variant MELA-AU 7 43562661 43562661 single base substitution G A intron_variant MELA-AU 7 43562661 43562661 single base substitution G A stop_gained W35* 104G>A MELA-AU 7 43562683 43562683 single base substitution A G intron_variant MELA-AU 7 43562683 43562683 single base substitution A G synonymous_variant Q42Q 126A>G MELA-AU 7 43562738 43562738 single base substitution G A intron_variant MELA-AU 7 43562738 43562738 single base substitution G A missense_variant D61N 181G>A MELA-AU 7 43562824 43562824 single base substitution G A intron_variant MELA-AU 7 43562847 43562847 single base substitution A C intron_variant MELA-AU 7 43562951 43562951 single base substitution C T intron_variant MELA-AU 7 43563175 43563175 single base substitution T C intron_variant MELA-AU 7 43563239 43563239 single base substitution G A intron_variant MELA-AU 7 43563268 43563268 single base substitution C T intron_variant MELA-AU 7 43563277 43563277 single base substitution C T intron_variant MELA-AU 7 43563353 43563353 single base substitution G A intron_variant MELA-AU 7 43563365 43563365 single base substitution G A intron_variant MELA-AU 7 43563621 43563621 single base substitution G A intron_variant MELA-AU 7 43563806 43563806 single base substitution A T intron_variant MELA-AU 7 43564195 43564195 single base substitution C T intron_variant MELA-AU 7 43564226 43564226 single base substitution A G intron_variant MELA-AU 7 43564331 43564331 single base substitution C T intron_variant MELA-AU 7 43564470 43564470 single base substitution T A intron_variant MELA-AU 7 43564813 43564813 single base substitution G A intron_variant MELA-AU 7 43564890 43564890 single base substitution C T intron_variant MELA-AU 7 43564891 43564891 single base substitution C T intron_variant MELA-AU 7 43565133 43565133 single base substitution A G intron_variant MELA-AU 7 43565278 43565278 single base substitution C T intron_variant MELA-AU 7 43565329 43565329 single base substitution C T intron_variant MELA-AU 7 43565331 43565331 single base substitution T C intron_variant MELA-AU 7 43565386 43565387 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 43565454 43565454 single base substitution G A intron_variant MELA-AU 7 43566040 43566040 single base substitution G A intron_variant MELA-AU 7 43566058 43566058 single base substitution G A intron_variant MELA-AU 7 43566260 43566260 single base substitution A G intron_variant MELA-AU 7 43566409 43566409 single base substitution G A intron_variant MELA-AU 7 43566453 43566453 single base substitution G A intron_variant MELA-AU 7 43566925 43566925 single base substitution G A intron_variant MELA-AU 7 43567112 43567112 single base substitution A G intron_variant MELA-AU 7 43567244 43567244 single base substitution G A intron_variant MELA-AU 7 43567298 43567298 single base substitution C T intron_variant MELA-AU 7 43567740 43567740 single base substitution C T intron_variant MELA-AU 7 43567813 43567813 single base substitution C T intron_variant MELA-AU 7 43567972 43567972 single base substitution C T intron_variant MELA-AU 7 43567986 43567986 single base substitution C T intron_variant MELA-AU 7 43568333 43568333 single base substitution G A intron_variant MELA-AU 7 43568334 43568334 single base substitution G A intron_variant MELA-AU 7 43568397 43568397 single base substitution C T intron_variant MELA-AU 7 43568484 43568484 single base substitution C T intron_variant MELA-AU 7 43568575 43568575 single base substitution C T intron_variant MELA-AU 7 43568790 43568790 single base substitution C T intron_variant MELA-AU 7 43568824 43568824 single base substitution C T intron_variant MELA-AU 7 43568918 43568919 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 43569243 43569243 single base substitution C T intron_variant MELA-AU 7 43569579 43569579 single base substitution C T intron_variant MELA-AU 7 43569629 43569629 single base substitution A G intron_variant MELA-AU 7 43569631 43569631 single base substitution C T intron_variant MELA-AU 7 43569719 43569719 single base substitution T A intron_variant MELA-AU 7 43569783 43569783 single base substitution C T intron_variant MELA-AU 7 43569827 43569827 single base substitution G A intron_variant MELA-AU 7 43570218 43570218 single base substitution G A intron_variant MELA-AU 7 43570840 43570840 single base substitution C T intron_variant MELA-AU 7 43570841 43570841 single base substitution C T intron_variant MELA-AU 7 43571134 43571134 single base substitution C T intron_variant MELA-AU 7 43571183 43571183 single base substitution C T intron_variant MELA-AU 7 43571228 43571228 single base substitution C T intron_variant MELA-AU 7 43571281 43571281 single base substitution C T intron_variant MELA-AU 7 43571382 43571382 single base substitution C T intron_variant MELA-AU 7 43571758 43571759 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 43571772 43571772 single base substitution C T intron_variant MELA-AU 7 43572043 43572043 single base substitution C T intron_variant MELA-AU 7 43572482 43572482 single base substitution G A intron_variant MELA-AU 7 43572887 43572892 deletion of <=200bp CCATTA - intron_variant MELA-AU 7 43573125 43573125 single base substitution C T intron_variant MELA-AU 7 43573187 43573187 single base substitution C T intron_variant MELA-AU 7 43573261 43573261 single base substitution G A intron_variant MELA-AU 7 43573308 43573308 single base substitution C A intron_variant MELA-AU 7 43573377 43573377 single base substitution G A intron_variant MELA-AU 7 43573646 43573646 single base substitution G A intron_variant MELA-AU 7 43573805 43573805 single base substitution G A intron_variant MELA-AU 7 43573844 43573845 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 43573930 43573930 single base substitution C T intron_variant MELA-AU 7 43574248 43574248 single base substitution T G intron_variant MELA-AU 7 43574275 43574275 single base substitution G A intron_variant MELA-AU 7 43574770 43574770 single base substitution G T intron_variant MELA-AU 7 43574812 43574812 single base substitution T C intron_variant MELA-AU 7 43575245 43575245 single base substitution G T intron_variant MELA-AU 7 43576192 43576192 single base substitution G A intron_variant MELA-AU 7 43576956 43576956 single base substitution T C intron_variant MELA-AU 7 43577109 43577109 single base substitution T C intron_variant MELA-AU 7 43577480 43577480 single base substitution C T intron_variant MELA-AU 7 43577891 43577891 single base substitution G A intron_variant MELA-AU 7 43577896 43577896 single base substitution C T intron_variant MELA-AU 7 43578197 43578197 single base substitution G A intron_variant MELA-AU 7 43578723 43578723 single base substitution C T intron_variant MELA-AU 7 43578860 43578860 single base substitution G A intron_variant MELA-AU 7 43579193 43579193 single base substitution C T intron_variant MELA-AU 7 43580334 43580334 single base substitution C T intron_variant MELA-AU 7 43581101 43581101 single base substitution G A intron_variant MELA-AU 7 43581229 43581229 single base substitution C T intron_variant MELA-AU 7 43581279 43581279 single base substitution C T intron_variant MELA-AU 7 43581625 43581625 single base substitution G A downstream_gene_variant MELA-AU 7 43581625 43581625 single base substitution G A intron_variant MELA-AU 7 43582096 43582096 single base substitution G A downstream_gene_variant MELA-AU 7 43582096 43582096 single base substitution G A intron_variant MELA-AU 7 43582150 43582150 single base substitution A G downstream_gene_variant MELA-AU 7 43582150 43582150 single base substitution A G intron_variant MELA-AU 7 43582369 43582370 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 43582369 43582370 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 43582459 43582459 single base substitution G A downstream_gene_variant MELA-AU 7 43582459 43582459 single base substitution G A intron_variant MELA-AU 7 43582472 43582472 single base substitution G A downstream_gene_variant MELA-AU 7 43582472 43582472 single base substitution G A intron_variant MELA-AU 7 43582501 43582501 single base substitution G A downstream_gene_variant MELA-AU 7 43582501 43582501 single base substitution G A intron_variant MELA-AU 7 43582545 43582545 single base substitution G A downstream_gene_variant MELA-AU 7 43582545 43582545 single base substitution G A intron_variant MELA-AU 7 43582557 43582557 single base substitution C T downstream_gene_variant MELA-AU 7 43582557 43582557 single base substitution C T intron_variant MELA-AU 7 43583149 43583149 single base substitution G A downstream_gene_variant MELA-AU 7 43583149 43583149 single base substitution G A intron_variant MELA-AU 7 43583260 43583260 single base substitution C T downstream_gene_variant MELA-AU 7 43583260 43583260 single base substitution C T intron_variant MELA-AU 7 43583366 43583366 single base substitution A G downstream_gene_variant MELA-AU 7 43583366 43583366 single base substitution A G intron_variant MELA-AU 7 43583368 43583368 single base substitution A T downstream_gene_variant MELA-AU 7 43583368 43583368 single base substitution A T intron_variant MELA-AU 7 43583676 43583676 single base substitution G A downstream_gene_variant MELA-AU 7 43583676 43583676 single base substitution G A intron_variant MELA-AU 7 43584437 43584437 single base substitution G A downstream_gene_variant MELA-AU 7 43584437 43584437 single base substitution G A intron_variant MELA-AU 7 43584570 43584570 single base substitution G A downstream_gene_variant MELA-AU 7 43584570 43584570 single base substitution G A intron_variant MELA-AU 7 43584728 43584728 single base substitution C T downstream_gene_variant MELA-AU 7 43584728 43584728 single base substitution C T intron_variant MELA-AU 7 43585126 43585126 single base substitution A C downstream_gene_variant MELA-AU 7 43585126 43585126 single base substitution A C intron_variant MELA-AU 7 43585262 43585262 single base substitution G A downstream_gene_variant MELA-AU 7 43585262 43585262 single base substitution G A intron_variant MELA-AU 7 43585263 43585263 single base substitution G A downstream_gene_variant MELA-AU 7 43585263 43585263 single base substitution G A intron_variant MELA-AU 7 43585394 43585394 single base substitution G A downstream_gene_variant MELA-AU 7 43585394 43585394 single base substitution G A intron_variant MELA-AU 7 43585456 43585456 single base substitution C T downstream_gene_variant MELA-AU 7 43585456 43585456 single base substitution C T intron_variant MELA-AU 7 43585484 43585484 single base substitution C T downstream_gene_variant MELA-AU 7 43585484 43585484 single base substitution C T intron_variant MELA-AU 7 43585647 43585647 single base substitution C T downstream_gene_variant MELA-AU 7 43585647 43585647 single base substitution C T intron_variant MELA-AU 7 43585748 43585748 single base substitution C T downstream_gene_variant MELA-AU 7 43585748 43585748 single base substitution C T intron_variant MELA-AU 7 43585893 43585893 single base substitution C T downstream_gene_variant MELA-AU 7 43585893 43585893 single base substitution C T intron_variant MELA-AU 7 43586001 43586001 single base substitution C T downstream_gene_variant MELA-AU 7 43586001 43586001 single base substitution C T intron_variant MELA-AU 7 43586015 43586015 single base substitution C T downstream_gene_variant MELA-AU 7 43586015 43586015 single base substitution C T intron_variant MELA-AU 7 43586041 43586041 single base substitution C T downstream_gene_variant MELA-AU 7 43586041 43586041 single base substitution C T intron_variant MELA-AU 7 43586095 43586095 single base substitution C T downstream_gene_variant MELA-AU 7 43586095 43586095 single base substitution C T intron_variant MELA-AU 7 43586163 43586164 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 43586163 43586164 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 43586347 43586347 single base substitution G A downstream_gene_variant MELA-AU 7 43586347 43586347 single base substitution G A intron_variant MELA-AU 7 43586395 43586395 single base substitution G A downstream_gene_variant MELA-AU 7 43586395 43586395 single base substitution G A intron_variant MELA-AU 7 43586896 43586896 single base substitution C T intron_variant MELA-AU 7 43586974 43586974 single base substitution C T intron_variant MELA-AU 7 43587115 43587115 single base substitution C T intron_variant MELA-AU 7 43587134 43587134 single base substitution G A intron_variant MELA-AU 7 43587255 43587255 single base substitution C T intron_variant MELA-AU 7 43587277 43587277 single base substitution C T intron_variant MELA-AU 7 43587407 43587407 single base substitution C T intron_variant MELA-AU 7 43587784 43587784 single base substitution A G intron_variant MELA-AU 7 43587901 43587901 single base substitution G A intron_variant MELA-AU 7 43588397 43588397 single base substitution G T intron_variant MELA-AU 7 43588595 43588595 single base substitution C T intron_variant MELA-AU 7 43588632 43588632 single base substitution C T intron_variant MELA-AU 7 43588812 43588812 single base substitution T C intron_variant MELA-AU 7 43588983 43588983 single base substitution G A intron_variant MELA-AU 7 43589025 43589025 single base substitution C T intron_variant MELA-AU 7 43589147 43589147 single base substitution G A intron_variant MELA-AU 7 43589519 43589519 single base substitution C T intron_variant MELA-AU 7 43589612 43589612 single base substitution G A intron_variant MELA-AU 7 43589636 43589636 single base substitution G A intron_variant MELA-AU 7 43589637 43589637 single base substitution G A intron_variant MELA-AU 7 43589923 43589923 single base substitution T A intron_variant MELA-AU 7 43590188 43590188 single base substitution G A missense_variant E1431K 4291G>A MELA-AU 7 43590188 43590188 single base substitution G A missense_variant E1465K 4393G>A MELA-AU 7 43590256 43590256 single base substitution C T intron_variant MELA-AU 7 43590264 43590264 single base substitution C T intron_variant MELA-AU 7 43590369 43590369 single base substitution G A intron_variant MELA-AU 7 43590420 43590420 single base substitution G A intron_variant MELA-AU 7 43590468 43590468 single base substitution G A intron_variant MELA-AU 7 43590513 43590513 single base substitution C T intron_variant MELA-AU 7 43590730 43590730 single base substitution C T intron_variant MELA-AU 7 43590913 43590913 single base substitution G A intron_variant MELA-AU 7 43591204 43591204 single base substitution A T intron_variant MELA-AU 7 43591508 43591508 single base substitution G A intron_variant MELA-AU 7 43591530 43591530 single base substitution G A intron_variant MELA-AU 7 43591649 43591649 single base substitution G A intron_variant MELA-AU 7 43591735 43591735 single base substitution C T intron_variant MELA-AU 7 43591831 43591831 single base substitution C G missense_variant S1435W 4304C>G MELA-AU 7 43591831 43591831 single base substitution C G missense_variant S1469W 4406C>G MELA-AU 7 43592131 43592131 single base substitution G A intron_variant MELA-AU 7 43592179 43592179 single base substitution C T intron_variant MELA-AU 7 43592277 43592277 single base substitution C T intron_variant MELA-AU 7 43592568 43592568 single base substitution C T intron_variant MELA-AU 7 43592797 43592797 single base substitution T C intron_variant MELA-AU 7 43593075 43593075 single base substitution G A intron_variant MELA-AU 7 43593091 43593091 single base substitution A G intron_variant MELA-AU 7 43593179 43593179 single base substitution G A intron_variant MELA-AU 7 43593194 43593194 single base substitution G A intron_variant MELA-AU 7 43593492 43593493 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 43594117 43594117 single base substitution G A intron_variant MELA-AU 7 43594133 43594133 single base substitution C T intron_variant MELA-AU 7 43594287 43594287 single base substitution G A missense_variant G1502E 4505G>A MELA-AU 7 43594287 43594287 single base substitution G A missense_variant G1536E 4607G>A MELA-AU 7 43594307 43594307 single base substitution G A missense_variant E1509K 4525G>A MELA-AU 7 43594307 43594307 single base substitution G A missense_variant E1543K 4627G>A MELA-AU 7 43594416 43594416 single base substitution G A intron_variant MELA-AU 7 43594431 43594431 single base substitution G A intron_variant MELA-AU 7 43595149 43595149 single base substitution G A intron_variant MELA-AU 7 43595822 43595822 single base substitution G A intron_variant MELA-AU 7 43596270 43596270 single base substitution G A intron_variant MELA-AU 7 43596548 43596548 single base substitution C T intron_variant MELA-AU 7 43596649 43596650 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 43596656 43596656 single base substitution C T intron_variant MELA-AU 7 43596672 43596672 single base substitution G A intron_variant MELA-AU 7 43597475 43597475 single base substitution C T intron_variant MELA-AU 7 43597484 43597484 single base substitution C T intron_variant MELA-AU 7 43598140 43598140 single base substitution T G intron_variant MELA-AU 7 43598155 43598155 single base substitution G A intron_variant MELA-AU 7 43598381 43598381 single base substitution G A intron_variant MELA-AU 7 43598392 43598392 single base substitution G A intron_variant MELA-AU 7 43598395 43598395 single base substitution G A intron_variant MELA-AU 7 43599197 43599197 single base substitution G A intron_variant MELA-AU 7 43599232 43599232 single base substitution G A intron_variant MELA-AU 7 43599307 43599308 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 43599680 43599680 single base substitution C T intron_variant MELA-AU 7 43599739 43599739 single base substitution C T intron_variant MELA-AU 7 43599963 43599963 single base substitution C T intron_variant MELA-AU 7 43600208 43600208 single base substitution C T intron_variant MELA-AU 7 43600905 43600905 single base substitution G A intron_variant MELA-AU 7 43601061 43601061 single base substitution C T intron_variant MELA-AU 7 43601254 43601255 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 43601255 43601255 single base substitution G A intron_variant MELA-AU 7 43601299 43601299 single base substitution C T intron_variant MELA-AU 7 43601322 43601322 single base substitution C T intron_variant MELA-AU 7 43601329 43601329 single base substitution G A intron_variant MELA-AU 7 43601507 43601507 single base substitution C T synonymous_variant S1567S 4701C>T MELA-AU 7 43601507 43601507 single base substitution C T synonymous_variant S1601S 4803C>T MELA-AU 7 43601587 43601587 single base substitution C T 3_prime_UTR_variant MELA-AU 7 43601635 43601635 single base substitution G A 3_prime_UTR_variant MELA-AU 7 43601892 43601892 single base substitution G A 3_prime_UTR_variant MELA-AU 7 43601892 43601892 single base substitution G A downstream_gene_variant MELA-AU 7 43601990 43601991 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 7 43601990 43601991 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 43602002 43602002 single base substitution C T 3_prime_UTR_variant MELA-AU 7 43602002 43602002 single base substitution C T downstream_gene_variant MELA-AU 7 43602046 43602046 single base substitution C T 3_prime_UTR_variant MELA-AU 7 43602046 43602046 single base substitution C T downstream_gene_variant MELA-AU 7 43602073 43602073 single base substitution G A 3_prime_UTR_variant MELA-AU 7 43602073 43602073 single base substitution G A downstream_gene_variant MELA-AU 7 43602217 43602217 single base substitution C T 3_prime_UTR_variant MELA-AU 7 43602217 43602217 single base substitution C T downstream_gene_variant MELA-AU 7 43602224 43602224 single base substitution G A 3_prime_UTR_variant MELA-AU 7 43602224 43602224 single base substitution G A downstream_gene_variant MELA-AU 7 43602375 43602375 single base substitution C T 3_prime_UTR_variant MELA-AU 7 43602375 43602375 single base substitution C T downstream_gene_variant MELA-AU 7 43602465 43602465 single base substitution C T 3_prime_UTR_variant MELA-AU 7 43602465 43602465 single base substitution C T downstream_gene_variant MELA-AU 7 43602615 43602615 single base substitution C T 3_prime_UTR_variant MELA-AU 7 43602615 43602615 single base substitution C T downstream_gene_variant MELA-AU 7 43602622 43602622 single base substitution C T 3_prime_UTR_variant MELA-AU 7 43602622 43602622 single base substitution C T downstream_gene_variant MELA-AU 7 43602632 43602632 single base substitution C T 3_prime_UTR_variant MELA-AU 7 43602632 43602632 single base substitution C T downstream_gene_variant MELA-AU 7 43602647 43602647 single base substitution C T 3_prime_UTR_variant MELA-AU 7 43602647 43602647 single base substitution C T downstream_gene_variant MELA-AU 7 43602657 43602657 single base substitution C T 3_prime_UTR_variant MELA-AU 7 43602657 43602657 single base substitution C T downstream_gene_variant MELA-AU 7 43602668 43602668 single base substitution C T 3_prime_UTR_variant MELA-AU 7 43602668 43602668 single base substitution C T downstream_gene_variant MELA-AU 7 43602720 43602720 single base substitution G A 3_prime_UTR_variant MELA-AU 7 43602720 43602720 single base substitution G A downstream_gene_variant MELA-AU 7 43603013 43603013 single base substitution G A 3_prime_UTR_variant MELA-AU 7 43603013 43603013 single base substitution G A downstream_gene_variant MELA-AU 7 43603082 43603082 single base substitution G A 3_prime_UTR_variant MELA-AU 7 43603082 43603082 single base substitution G A downstream_gene_variant MELA-AU 7 43603374 43603374 single base substitution A C 3_prime_UTR_variant MELA-AU 7 43603374 43603374 single base substitution A C downstream_gene_variant MELA-AU 7 43603562 43603562 single base substitution G T 3_prime_UTR_variant MELA-AU 7 43603562 43603562 single base substitution G T downstream_gene_variant MELA-AU 7 43603624 43603624 single base substitution G A 3_prime_UTR_variant MELA-AU 7 43603624 43603624 single base substitution G A downstream_gene_variant MELA-AU 7 43603642 43603642 single base substitution G A 3_prime_UTR_variant MELA-AU 7 43603642 43603642 single base substitution G A downstream_gene_variant MELA-AU 7 43603983 43603983 single base substitution T A 3_prime_UTR_variant MELA-AU 7 43603983 43603983 single base substitution T A downstream_gene_variant MELA-AU 7 43604101 43604101 single base substitution C T 3_prime_UTR_variant MELA-AU 7 43604101 43604101 single base substitution C T downstream_gene_variant MELA-AU 7 43604406 43604406 single base substitution C T 3_prime_UTR_variant MELA-AU 7 43604406 43604406 single base substitution C T downstream_gene_variant MELA-AU 7 43604446 43604446 single base substitution C T 3_prime_UTR_variant MELA-AU 7 43604446 43604446 single base substitution C T downstream_gene_variant MELA-AU 7 43604532 43604532 single base substitution C T 3_prime_UTR_variant MELA-AU 7 43604532 43604532 single base substitution C T downstream_gene_variant MELA-AU 7 43604747 43604747 single base substitution G A 3_prime_UTR_variant MELA-AU 7 43604747 43604747 single base substitution G A downstream_gene_variant MELA-AU 7 43605038 43605038 single base substitution C T 3_prime_UTR_variant MELA-AU 7 43605038 43605038 single base substitution C T downstream_gene_variant MELA-AU 7 43605065 43605066 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 7 43605065 43605066 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 43605423 43605423 single base substitution G A 3_prime_UTR_variant MELA-AU 7 43605423 43605423 single base substitution G A downstream_gene_variant MELA-AU 7 43605734 43605734 single base substitution C T downstream_gene_variant MELA-AU 7 43606157 43606157 single base substitution G A downstream_gene_variant MELA-AU 7 43606169 43606169 single base substitution G A downstream_gene_variant MELA-AU 7 43606385 43606385 single base substitution G A downstream_gene_variant MELA-AU 7 43606773 43606773 single base substitution C T downstream_gene_variant MELA-AU 7 43606866 43606866 single base substitution C T downstream_gene_variant MELA-AU 7 43606875 43606875 single base substitution C T downstream_gene_variant MELA-AU 7 43607380 43607380 single base substitution C T downstream_gene_variant MELA-AU 7 43607533 43607533 single base substitution G A downstream_gene_variant MELA-AU 7 43607735 43607735 single base substitution G A downstream_gene_variant MELA-AU 7 43608925 43608925 single base substitution T A downstream_gene_variant MELA-AU 7 43609261 43609261 single base substitution G A downstream_gene_variant MELA-AU 7 43609298 43609298 single base substitution C T downstream_gene_variant MELA-AU 7 43609363 43609363 single base substitution C T downstream_gene_variant MELA-AU 7 43609502 43609502 single base substitution C T downstream_gene_variant MELA-AU 7 43609710 43609710 single base substitution T C downstream_gene_variant MELA-AU 7 43610273 43610273 single base substitution G A downstream_gene_variant ORCA-IN 7 43154200 43154200 single base substitution C T intron_variant ORCA-IN 7 43165911 43165911 single base substitution G T intron_variant ORCA-IN 7 43177214 43177214 single base substitution T G intron_variant ORCA-IN 7 43193925 43193925 single base substitution G C intron_variant ORCA-IN 7 43235122 43235122 single base substitution C T intron_variant ORCA-IN 7 43251296 43251296 single base substitution C G intron_variant ORCA-IN 7 43286272 43286272 single base substitution G T intron_variant ORCA-IN 7 43286272 43286272 single base substitution G T upstream_gene_variant ORCA-IN 7 43286377 43286377 single base substitution G C intron_variant ORCA-IN 7 43286377 43286377 single base substitution G C upstream_gene_variant ORCA-IN 7 43326642 43326642 deletion of <=200bp G - intron_variant ORCA-IN 7 43341102 43341102 single base substitution G T intron_variant ORCA-IN 7 43351429 43351429 single base substitution G A exon_variant ORCA-IN 7 43351429 43351429 single base substitution G A missense_variant R32Q 95G>A ORCA-IN 7 43371095 43371095 single base substitution G A intron_variant ORCA-IN 7 43379283 43379283 single base substitution G C intron_variant ORCA-IN 7 43379555 43379555 single base substitution G A intron_variant ORCA-IN 7 43382714 43382714 single base substitution C A intron_variant ORCA-IN 7 43400652 43400652 single base substitution C T intron_variant ORCA-IN 7 43451040 43451040 single base substitution G C downstream_gene_variant ORCA-IN 7 43451040 43451040 single base substitution G C intron_variant ORCA-IN 7 43463792 43463792 single base substitution C T intron_variant ORCA-IN 7 43464903 43464903 insertion of <=200bp - A intron_variant ORCA-IN 7 43523368 43523368 single base substitution G A intron_variant ORCA-IN 7 43539078 43539078 deletion of <=200bp G - intron_variant ORCA-IN 7 43539489 43539489 single base substitution C G intron_variant ORCA-IN 7 43545360 43545360 deletion of <=200bp G - intron_variant ORCA-IN 7 43567221 43567221 single base substitution C T intron_variant ORCA-IN 7 43601309 43601309 single base substitution C A intron_variant OV-AU 7 43148708 43148708 single base substitution G A upstream_gene_variant OV-AU 7 43160686 43160686 single base substitution C A intron_variant OV-AU 7 43162201 43162201 single base substitution A T intron_variant OV-AU 7 43165574 43165574 single base substitution C A intron_variant OV-AU 7 43166026 43166026 single base substitution G A intron_variant OV-AU 7 43167437 43167437 single base substitution A T intron_variant OV-AU 7 43169054 43169054 single base substitution C T intron_variant OV-AU 7 43170213 43170213 single base substitution A G intron_variant OV-AU 7 43175391 43175391 single base substitution C G intron_variant OV-AU 7 43185387 43185387 single base substitution G C intron_variant OV-AU 7 43186167 43186167 single base substitution G T intron_variant OV-AU 7 43186780 43186780 single base substitution T C intron_variant OV-AU 7 43189835 43189835 single base substitution A C intron_variant OV-AU 7 43190716 43190716 single base substitution C T intron_variant OV-AU 7 43191138 43191138 single base substitution G C intron_variant OV-AU 7 43192045 43192045 single base substitution T C intron_variant OV-AU 7 43194102 43194102 single base substitution G T intron_variant OV-AU 7 43206610 43206610 single base substitution G T intron_variant OV-AU 7 43207553 43207553 single base substitution C A intron_variant OV-AU 7 43209451 43209451 single base substitution T C intron_variant OV-AU 7 43210148 43210148 single base substitution G A intron_variant OV-AU 7 43212425 43212425 single base substitution G A intron_variant OV-AU 7 43215910 43215910 single base substitution G C intron_variant OV-AU 7 43217381 43217381 single base substitution C A intron_variant OV-AU 7 43220284 43220284 single base substitution G A intron_variant OV-AU 7 43230021 43230021 single base substitution T G intron_variant OV-AU 7 43230542 43230542 single base substitution A C intron_variant OV-AU 7 43236557 43236557 single base substitution A G intron_variant OV-AU 7 43239582 43239582 single base substitution T A intron_variant OV-AU 7 43242983 43242983 single base substitution T G intron_variant OV-AU 7 43250141 43250141 single base substitution G C intron_variant OV-AU 7 43252874 43252874 single base substitution T A intron_variant OV-AU 7 43253925 43253925 single base substitution T A intron_variant OV-AU 7 43255841 43255841 single base substitution T C intron_variant OV-AU 7 43259266 43259266 single base substitution G A intron_variant OV-AU 7 43262025 43262025 single base substitution G A intron_variant OV-AU 7 43263582 43263582 single base substitution T G intron_variant OV-AU 7 43263811 43263811 single base substitution G A intron_variant OV-AU 7 43265238 43265238 single base substitution A C intron_variant OV-AU 7 43265925 43265925 single base substitution T C intron_variant OV-AU 7 43266416 43266416 single base substitution C A intron_variant OV-AU 7 43267662 43267662 single base substitution A C intron_variant OV-AU 7 43274285 43274285 single base substitution G T intron_variant OV-AU 7 43280056 43280056 single base substitution C G intron_variant OV-AU 7 43281381 43281381 single base substitution A G intron_variant OV-AU 7 43285377 43285377 single base substitution C T intron_variant OV-AU 7 43285377 43285377 single base substitution C T upstream_gene_variant OV-AU 7 43287468 43287468 single base substitution A G intron_variant OV-AU 7 43287468 43287468 single base substitution A G upstream_gene_variant OV-AU 7 43291251 43291251 single base substitution G T intron_variant OV-AU 7 43293727 43293727 single base substitution G A intron_variant OV-AU 7 43294464 43294464 single base substitution C A intron_variant OV-AU 7 43296034 43296034 single base substitution C A intron_variant OV-AU 7 43299288 43299288 single base substitution G C downstream_gene_variant OV-AU 7 43299288 43299288 single base substitution G C intron_variant OV-AU 7 43305431 43305431 single base substitution C G intron_variant OV-AU 7 43307243 43307243 single base substitution G A intron_variant OV-AU 7 43312628 43312628 single base substitution G T intron_variant OV-AU 7 43313184 43313184 single base substitution G C intron_variant OV-AU 7 43317466 43317466 single base substitution C G intron_variant OV-AU 7 43319300 43319300 single base substitution C G intron_variant OV-AU 7 43323166 43323166 single base substitution C A intron_variant OV-AU 7 43327064 43327064 single base substitution G T intron_variant OV-AU 7 43330672 43330672 single base substitution C T intron_variant OV-AU 7 43334211 43334211 single base substitution G C intron_variant OV-AU 7 43337466 43337466 single base substitution T A intron_variant OV-AU 7 43337985 43337985 single base substitution T A intron_variant OV-AU 7 43348575 43348575 single base substitution T A intron_variant OV-AU 7 43349535 43349535 single base substitution G C intron_variant OV-AU 7 43350767 43350767 single base substitution C G intron_variant OV-AU 7 43351795 43351795 single base substitution G T downstream_gene_variant OV-AU 7 43351795 43351795 single base substitution G T intron_variant OV-AU 7 43355076 43355076 single base substitution A G downstream_gene_variant OV-AU 7 43355076 43355076 single base substitution A G intron_variant OV-AU 7 43357171 43357171 single base substitution T G intron_variant OV-AU 7 43358724 43358724 single base substitution C T intron_variant OV-AU 7 43358918 43358918 single base substitution G A intron_variant OV-AU 7 43359294 43359294 single base substitution G T intron_variant OV-AU 7 43375109 43375109 single base substitution C T intron_variant OV-AU 7 43376676 43376676 single base substitution T A intron_variant OV-AU 7 43377815 43377815 single base substitution C T intron_variant OV-AU 7 43385900 43385900 single base substitution G T intron_variant OV-AU 7 43409620 43409620 single base substitution C T intron_variant OV-AU 7 43410033 43410033 single base substitution C A intron_variant OV-AU 7 43412979 43412979 single base substitution A G intron_variant OV-AU 7 43412979 43412979 single base substitution A G upstream_gene_variant OV-AU 7 43413886 43413886 single base substitution A G intron_variant OV-AU 7 43413886 43413886 single base substitution A G upstream_gene_variant OV-AU 7 43415013 43415013 single base substitution G A intron_variant OV-AU 7 43415013 43415013 single base substitution G A upstream_gene_variant OV-AU 7 43417095 43417095 single base substitution G T intron_variant OV-AU 7 43417095 43417095 single base substitution G T upstream_gene_variant OV-AU 7 43425811 43425811 single base substitution G T intron_variant OV-AU 7 43426324 43426324 single base substitution C A intron_variant OV-AU 7 43428972 43428972 single base substitution C T intron_variant OV-AU 7 43430247 43430247 single base substitution G A intron_variant OV-AU 7 43431177 43431177 single base substitution C T intron_variant OV-AU 7 43437445 43437445 single base substitution G C intron_variant OV-AU 7 43439033 43439033 single base substitution T C intron_variant OV-AU 7 43440956 43440956 single base substitution G T intron_variant OV-AU 7 43440971 43440971 single base substitution G T intron_variant OV-AU 7 43445465 43445465 single base substitution G C intron_variant OV-AU 7 43446883 43446883 single base substitution G A intron_variant OV-AU 7 43451790 43451790 single base substitution A T downstream_gene_variant OV-AU 7 43451790 43451790 single base substitution A T intron_variant OV-AU 7 43459252 43459252 single base substitution A T intron_variant OV-AU 7 43463036 43463036 single base substitution A G intron_variant OV-AU 7 43464852 43464852 single base substitution A T intron_variant OV-AU 7 43474939 43474939 single base substitution C A intron_variant OV-AU 7 43482898 43482898 single base substitution G T downstream_gene_variant OV-AU 7 43482898 43482898 single base substitution G T intron_variant OV-AU 7 43486610 43486610 single base substitution G C intron_variant OV-AU 7 43488495 43488495 single base substitution C A intron_variant OV-AU 7 43489586 43489586 single base substitution G C intron_variant OV-AU 7 43490905 43490905 single base substitution A T intron_variant OV-AU 7 43491584 43491584 single base substitution C A intron_variant OV-AU 7 43494315 43494315 single base substitution C A intron_variant OV-AU 7 43504215 43504215 single base substitution T G intron_variant OV-AU 7 43505401 43505401 single base substitution G C intron_variant OV-AU 7 43506137 43506137 single base substitution C T synonymous_variant P927P 2781C>T OV-AU 7 43506137 43506137 single base substitution C T synonymous_variant P961P 2883C>T OV-AU 7 43509976 43509976 single base substitution C G intron_variant OV-AU 7 43512122 43512122 single base substitution T C intron_variant OV-AU 7 43514827 43514827 single base substitution C A intron_variant OV-AU 7 43514827 43514827 single base substitution C A upstream_gene_variant OV-AU 7 43518424 43518424 single base substitution C G intron_variant OV-AU 7 43518424 43518424 single base substitution C G upstream_gene_variant OV-AU 7 43520275 43520275 single base substitution T C intron_variant OV-AU 7 43527728 43527728 single base substitution G A downstream_gene_variant OV-AU 7 43527728 43527728 single base substitution G A intron_variant OV-AU 7 43528015 43528015 single base substitution G A downstream_gene_variant OV-AU 7 43528015 43528015 single base substitution G A intron_variant OV-AU 7 43528019 43528019 single base substitution G A downstream_gene_variant OV-AU 7 43528019 43528019 single base substitution G A intron_variant OV-AU 7 43530190 43530190 single base substitution C G intron_variant OV-AU 7 43539155 43539155 single base substitution T C intron_variant OV-AU 7 43539795 43539795 single base substitution T A intron_variant OV-AU 7 43542041 43542041 single base substitution A G intron_variant OV-AU 7 43544164 43544164 single base substitution C A intron_variant OV-AU 7 43551852 43551852 single base substitution G A intron_variant OV-AU 7 43557571 43557571 single base substitution G A intron_variant OV-AU 7 43560238 43560238 single base substitution T C intron_variant OV-AU 7 43560904 43560904 single base substitution G T intron_variant OV-AU 7 43566521 43566521 single base substitution G C intron_variant OV-AU 7 43579918 43579918 single base substitution C T intron_variant OV-AU 7 43580060 43580060 single base substitution A T intron_variant OV-AU 7 43583027 43583027 single base substitution G C downstream_gene_variant OV-AU 7 43583027 43583027 single base substitution G C intron_variant OV-AU 7 43584388 43584388 single base substitution T C downstream_gene_variant OV-AU 7 43584388 43584388 single base substitution T C intron_variant OV-AU 7 43584478 43584478 single base substitution A C downstream_gene_variant OV-AU 7 43584478 43584478 single base substitution A C intron_variant OV-AU 7 43589747 43589747 single base substitution C T intron_variant OV-AU 7 43592966 43592966 single base substitution C T intron_variant OV-AU 7 43594332 43594332 single base substitution G C missense_variant S1517T 4550G>C OV-AU 7 43594332 43594332 single base substitution G C missense_variant S1551T 4652G>C OV-AU 7 43595586 43595586 single base substitution A T intron_variant OV-AU 7 43599515 43599515 single base substitution A G intron_variant OV-AU 7 43599674 43599674 single base substitution T C intron_variant OV-AU 7 43602147 43602147 single base substitution G C 3_prime_UTR_variant OV-AU 7 43602147 43602147 single base substitution G C downstream_gene_variant OV-AU 7 43605100 43605100 single base substitution C A 3_prime_UTR_variant OV-AU 7 43605100 43605100 single base substitution C A downstream_gene_variant OV-AU 7 43605901 43605901 single base substitution T A downstream_gene_variant OV-US 7 43532713 43532713 single base substitution G A intron_variant OV-US 7 43532713 43532713 single base substitution G A missense_variant R1090H 3269G>A OV-US 7 43532713 43532713 single base substitution G A missense_variant R1124H 3371G>A OV-US 7 43591887 43591887 single base substitution G A missense_variant A1454T 4360G>A OV-US 7 43591887 43591887 single base substitution G A missense_variant A1488T 4462G>A PACA-AU 7 43147702 43147702 single base substitution G A upstream_gene_variant PACA-AU 7 43148854 43148854 single base substitution G A upstream_gene_variant PACA-AU 7 43152445 43152445 single base substitution C T 5_prime_UTR_variant PACA-AU 7 43152445 43152445 single base substitution C T exon_variant PACA-AU 7 43152445 43152445 single base substitution C T upstream_gene_variant PACA-AU 7 43152461 43152461 single base substitution C T 5_prime_UTR_variant PACA-AU 7 43152461 43152461 single base substitution C T exon_variant PACA-AU 7 43152461 43152461 single base substitution C T upstream_gene_variant PACA-AU 7 43152962 43152962 single base substitution C T intron_variant PACA-AU 7 43152962 43152962 single base substitution C T upstream_gene_variant PACA-AU 7 43155057 43155057 single base substitution T C intron_variant PACA-AU 7 43156986 43156986 single base substitution A G intron_variant PACA-AU 7 43163158 43163158 single base substitution G A intron_variant PACA-AU 7 43170209 43170209 single base substitution A G intron_variant PACA-AU 7 43170216 43170216 single base substitution A C intron_variant PACA-AU 7 43172466 43172466 single base substitution G A intron_variant PACA-AU 7 43177273 43177273 single base substitution C T intron_variant PACA-AU 7 43179983 43179983 single base substitution C A intron_variant PACA-AU 7 43180188 43180188 single base substitution G A intron_variant PACA-AU 7 43182458 43182458 single base substitution G A intron_variant PACA-AU 7 43185933 43185933 single base substitution T A intron_variant PACA-AU 7 43186859 43186859 single base substitution C G intron_variant PACA-AU 7 43190301 43190301 single base substitution G A intron_variant PACA-AU 7 43190342 43190342 single base substitution C T intron_variant PACA-AU 7 43190454 43190454 single base substitution C T intron_variant PACA-AU 7 43190629 43190629 single base substitution A G intron_variant PACA-AU 7 43199439 43199439 single base substitution C T intron_variant PACA-AU 7 43201716 43201716 single base substitution C G intron_variant PACA-AU 7 43203027 43203027 single base substitution G A intron_variant PACA-AU 7 43205567 43205567 single base substitution G A intron_variant PACA-AU 7 43206264 43206264 single base substitution A T intron_variant PACA-AU 7 43206812 43206812 single base substitution C A intron_variant PACA-AU 7 43207245 43207245 single base substitution G C intron_variant PACA-AU 7 43207289 43207289 single base substitution C A intron_variant PACA-AU 7 43208201 43208201 single base substitution G A intron_variant PACA-AU 7 43212858 43212858 single base substitution C T intron_variant PACA-AU 7 43214385 43214385 single base substitution A T intron_variant PACA-AU 7 43214664 43214664 single base substitution T G intron_variant PACA-AU 7 43217155 43217155 insertion of <=200bp - A intron_variant PACA-AU 7 43218210 43218210 single base substitution C A intron_variant PACA-AU 7 43219032 43219032 single base substitution G A intron_variant PACA-AU 7 43220284 43220284 single base substitution G A intron_variant PACA-AU 7 43221254 43221254 single base substitution C G intron_variant PACA-AU 7 43221277 43221277 single base substitution T G intron_variant PACA-AU 7 43224201 43224201 single base substitution T C intron_variant PACA-AU 7 43225317 43225317 single base substitution A G intron_variant PACA-AU 7 43225854 43225854 single base substitution G A intron_variant PACA-AU 7 43228223 43228223 single base substitution C T intron_variant PACA-AU 7 43228619 43228619 single base substitution C T intron_variant PACA-AU 7 43230361 43230361 single base substitution G A intron_variant PACA-AU 7 43233561 43233561 single base substitution G C intron_variant PACA-AU 7 43236247 43236247 single base substitution C T intron_variant PACA-AU 7 43236807 43236807 deletion of <=200bp G - intron_variant PACA-AU 7 43236980 43236980 single base substitution G C intron_variant PACA-AU 7 43239371 43239371 single base substitution C A intron_variant PACA-AU 7 43240640 43240640 single base substitution G T intron_variant PACA-AU 7 43241187 43241187 single base substitution T G intron_variant PACA-AU 7 43242692 43242692 single base substitution C T intron_variant PACA-AU 7 43243092 43243092 single base substitution C T intron_variant PACA-AU 7 43244269 43244269 single base substitution C A intron_variant PACA-AU 7 43247149 43247149 single base substitution C A intron_variant PACA-AU 7 43253570 43253570 single base substitution A G intron_variant PACA-AU 7 43253844 43253844 single base substitution A C intron_variant PACA-AU 7 43254897 43254897 single base substitution G A intron_variant PACA-AU 7 43256281 43256281 single base substitution T A intron_variant PACA-AU 7 43256710 43256710 single base substitution G C intron_variant PACA-AU 7 43259641 43259641 single base substitution C T intron_variant PACA-AU 7 43259898 43259898 single base substitution C T intron_variant PACA-AU 7 43260544 43260544 single base substitution A C intron_variant PACA-AU 7 43262523 43262523 single base substitution T C intron_variant PACA-AU 7 43262942 43262942 single base substitution C T intron_variant PACA-AU 7 43264499 43264499 single base substitution A T intron_variant PACA-AU 7 43264901 43264901 single base substitution G A intron_variant PACA-AU 7 43265172 43265172 single base substitution A C intron_variant PACA-AU 7 43266191 43266191 insertion of <=200bp - A intron_variant PACA-AU 7 43266235 43266235 single base substitution G A intron_variant PACA-AU 7 43266460 43266460 single base substitution C T intron_variant PACA-AU 7 43266475 43266475 single base substitution G A intron_variant PACA-AU 7 43267159 43267159 single base substitution G A intron_variant PACA-AU 7 43268346 43268346 single base substitution C T intron_variant PACA-AU 7 43268383 43268383 single base substitution T C intron_variant PACA-AU 7 43270183 43270183 single base substitution T G intron_variant PACA-AU 7 43272673 43272673 single base substitution C A intron_variant PACA-AU 7 43275535 43275535 single base substitution C A intron_variant PACA-AU 7 43275617 43275617 single base substitution G A intron_variant PACA-AU 7 43278392 43278392 single base substitution T C intron_variant PACA-AU 7 43279110 43279110 single base substitution G A intron_variant PACA-AU 7 43279494 43279494 deletion of <=200bp A - intron_variant PACA-AU 7 43279758 43279758 single base substitution G A intron_variant PACA-AU 7 43283131 43283131 single base substitution C T intron_variant PACA-AU 7 43283894 43283894 deletion of <=200bp G - intron_variant PACA-AU 7 43283894 43283894 deletion of <=200bp G - upstream_gene_variant PACA-AU 7 43290272 43290272 single base substitution G A intron_variant PACA-AU 7 43290274 43290274 deletion of <=200bp A - intron_variant PACA-AU 7 43292946 43292946 single base substitution C T intron_variant PACA-AU 7 43294892 43294892 single base substitution G A intron_variant PACA-AU 7 43295700 43295700 single base substitution G A intron_variant PACA-AU 7 43296034 43296034 single base substitution C A intron_variant PACA-AU 7 43297121 43297121 single base substitution T A intron_variant PACA-AU 7 43299066 43299066 insertion of <=200bp - A downstream_gene_variant PACA-AU 7 43299066 43299066 insertion of <=200bp - A intron_variant PACA-AU 7 43299551 43299551 single base substitution G C downstream_gene_variant PACA-AU 7 43299551 43299551 single base substitution G C intron_variant PACA-AU 7 43299849 43299849 single base substitution G T downstream_gene_variant PACA-AU 7 43299849 43299849 single base substitution G T intron_variant PACA-AU 7 43301908 43301908 single base substitution G A downstream_gene_variant PACA-AU 7 43301908 43301908 single base substitution G A intron_variant PACA-AU 7 43303531 43303531 single base substitution C T intron_variant PACA-AU 7 43303595 43303595 single base substitution G T intron_variant PACA-AU 7 43303846 43303846 single base substitution T A intron_variant PACA-AU 7 43304171 43304171 single base substitution G A intron_variant PACA-AU 7 43304333 43304333 single base substitution C A intron_variant PACA-AU 7 43304336 43304336 single base substitution C T intron_variant PACA-AU 7 43305312 43305312 single base substitution A C intron_variant PACA-AU 7 43306704 43306704 single base substitution A G intron_variant PACA-AU 7 43308255 43308255 single base substitution G T intron_variant PACA-AU 7 43308996 43308996 single base substitution C T intron_variant PACA-AU 7 43309738 43309738 single base substitution C A intron_variant PACA-AU 7 43312279 43312279 single base substitution C T intron_variant PACA-AU 7 43312590 43312590 insertion of <=200bp - A intron_variant PACA-AU 7 43313984 43313984 single base substitution A T intron_variant PACA-AU 7 43316047 43316047 deletion of <=200bp A - intron_variant PACA-AU 7 43317715 43317715 deletion of <=200bp C - intron_variant PACA-AU 7 43320683 43320683 single base substitution G A intron_variant PACA-AU 7 43321784 43321784 single base substitution T G intron_variant PACA-AU 7 43324478 43324478 single base substitution G T intron_variant PACA-AU 7 43324753 43324753 single base substitution C G intron_variant PACA-AU 7 43328378 43328378 single base substitution T A intron_variant PACA-AU 7 43329306 43329306 single base substitution C T intron_variant PACA-AU 7 43330623 43330623 single base substitution T C intron_variant PACA-AU 7 43330723 43330723 single base substitution G T intron_variant PACA-AU 7 43332831 43332831 single base substitution A G intron_variant PACA-AU 7 43333021 43333021 single base substitution A G intron_variant PACA-AU 7 43333812 43333812 single base substitution G A intron_variant PACA-AU 7 43335135 43335135 insertion of <=200bp - G intron_variant PACA-AU 7 43335282 43335282 single base substitution C T intron_variant PACA-AU 7 43337478 43337478 single base substitution C A intron_variant PACA-AU 7 43338518 43338518 deletion of <=200bp A - intron_variant PACA-AU 7 43341971 43341971 single base substitution G A intron_variant PACA-AU 7 43343556 43343556 single base substitution C G intron_variant PACA-AU 7 43343572 43343572 single base substitution C G intron_variant PACA-AU 7 43344059 43344059 insertion of <=200bp - TTAT intron_variant PACA-AU 7 43349080 43349080 single base substitution C T intron_variant PACA-AU 7 43351528 43351528 single base substitution G A exon_variant PACA-AU 7 43351528 43351528 single base substitution G A missense_variant R65H 194G>A PACA-AU 7 43354946 43354946 single base substitution C T downstream_gene_variant PACA-AU 7 43354946 43354946 single base substitution C T intron_variant PACA-AU 7 43355828 43355828 single base substitution G C downstream_gene_variant PACA-AU 7 43355828 43355828 single base substitution G C intron_variant PACA-AU 7 43356559 43356559 single base substitution G A downstream_gene_variant PACA-AU 7 43356559 43356559 single base substitution G A intron_variant PACA-AU 7 43356609 43356609 single base substitution G C intron_variant PACA-AU 7 43362393 43362393 single base substitution G A intron_variant PACA-AU 7 43363410 43363410 single base substitution C T intron_variant PACA-AU 7 43364835 43364835 single base substitution G A intron_variant PACA-AU 7 43365214 43365214 single base substitution G A intron_variant PACA-AU 7 43366952 43366952 single base substitution G A intron_variant PACA-AU 7 43367687 43367687 single base substitution C T intron_variant PACA-AU 7 43370576 43370576 single base substitution T G intron_variant PACA-AU 7 43371909 43371909 single base substitution C T intron_variant PACA-AU 7 43371979 43371979 single base substitution G A intron_variant PACA-AU 7 43372590 43372590 single base substitution C T intron_variant PACA-AU 7 43375741 43375741 single base substitution C T intron_variant PACA-AU 7 43375942 43375942 single base substitution A T intron_variant PACA-AU 7 43375943 43375943 single base substitution T A intron_variant PACA-AU 7 43377279 43377279 single base substitution C T intron_variant PACA-AU 7 43384006 43384006 single base substitution G A intron_variant PACA-AU 7 43385464 43385464 single base substitution C T intron_variant PACA-AU 7 43389142 43389142 single base substitution T G intron_variant PACA-AU 7 43391201 43391201 single base substitution C A intron_variant PACA-AU 7 43392661 43392661 single base substitution T A intron_variant PACA-AU 7 43395073 43395073 deletion of <=200bp A - intron_variant PACA-AU 7 43395545 43395545 single base substitution G A intron_variant PACA-AU 7 43395578 43395578 single base substitution C G intron_variant PACA-AU 7 43396399 43396399 single base substitution A G intron_variant PACA-AU 7 43398531 43398533 deletion of <=200bp CTC - intron_variant PACA-AU 7 43399829 43399829 single base substitution T A intron_variant PACA-AU 7 43400597 43400597 single base substitution G A intron_variant PACA-AU 7 43400641 43400641 single base substitution T C intron_variant PACA-AU 7 43402292 43402292 single base substitution G T intron_variant PACA-AU 7 43403824 43403824 single base substitution A C intron_variant PACA-AU 7 43408320 43408320 single base substitution G T intron_variant PACA-AU 7 43413093 43413093 single base substitution A G intron_variant PACA-AU 7 43413093 43413093 single base substitution A G upstream_gene_variant PACA-AU 7 43414945 43414945 single base substitution G A intron_variant PACA-AU 7 43414945 43414945 single base substitution G A upstream_gene_variant PACA-AU 7 43416598 43416598 single base substitution A G intron_variant PACA-AU 7 43416598 43416598 single base substitution A G upstream_gene_variant PACA-AU 7 43416861 43416861 single base substitution T C intron_variant PACA-AU 7 43416861 43416861 single base substitution T C upstream_gene_variant PACA-AU 7 43418410 43418410 insertion of <=200bp - A intron_variant PACA-AU 7 43418415 43418415 deletion of <=200bp T - intron_variant PACA-AU 7 43419873 43419873 single base substitution C T intron_variant PACA-AU 7 43419879 43419879 single base substitution T C intron_variant PACA-AU 7 43420111 43420111 deletion of <=200bp T - intron_variant PACA-AU 7 43422579 43422579 single base substitution G A intron_variant PACA-AU 7 43423556 43423556 single base substitution A G intron_variant PACA-AU 7 43424658 43424658 single base substitution G T intron_variant PACA-AU 7 43426168 43426168 single base substitution C T intron_variant PACA-AU 7 43430967 43430967 single base substitution C T intron_variant PACA-AU 7 43433901 43433919 deletion of <=200bp CAGCCATTGATGGGAATAA - intron_variant PACA-AU 7 43433901 43433919 deletion of <=200bp CAGCCATTGATGGGAATAA - upstream_gene_variant PACA-AU 7 43440019 43440019 single base substitution C T intron_variant PACA-AU 7 43440298 43440298 single base substitution T G intron_variant PACA-AU 7 43440790 43440790 single base substitution G C intron_variant PACA-AU 7 43444441 43444441 single base substitution G T intron_variant PACA-AU 7 43445952 43445952 single base substitution T A intron_variant PACA-AU 7 43446337 43446337 single base substitution C T intron_variant PACA-AU 7 43449361 43449361 single base substitution A C downstream_gene_variant PACA-AU 7 43449361 43449361 single base substitution A C intron_variant PACA-AU 7 43449913 43449913 single base substitution T G downstream_gene_variant PACA-AU 7 43449913 43449913 single base substitution T G intron_variant PACA-AU 7 43450371 43450371 deletion of <=200bp T - downstream_gene_variant PACA-AU 7 43450371 43450371 deletion of <=200bp T - intron_variant PACA-AU 7 43454582 43454582 single base substitution A C intron_variant PACA-AU 7 43457235 43457235 single base substitution G T intron_variant PACA-AU 7 43457686 43457686 single base substitution C T intron_variant PACA-AU 7 43462770 43462770 single base substitution C T intron_variant PACA-AU 7 43463480 43463480 single base substitution A C intron_variant PACA-AU 7 43466348 43466348 single base substitution T C intron_variant PACA-AU 7 43466479 43466479 single base substitution T C intron_variant PACA-AU 7 43470328 43470328 single base substitution G T intron_variant PACA-AU 7 43473161 43473161 single base substitution C T intron_variant PACA-AU 7 43476727 43476727 deletion of <=200bp C - intron_variant PACA-AU 7 43477144 43477144 single base substitution C T intron_variant PACA-AU 7 43483537 43483537 single base substitution G T downstream_gene_variant PACA-AU 7 43483537 43483537 single base substitution G T intron_variant PACA-AU 7 43483912 43483912 single base substitution C T downstream_gene_variant PACA-AU 7 43483912 43483912 single base substitution C T missense_variant R381W 1141C>T PACA-AU 7 43484497 43484497 single base substitution G A downstream_gene_variant PACA-AU 7 43484497 43484497 single base substitution G A missense_variant G576S 1726G>A PACA-AU 7 43484858 43484858 single base substitution C T downstream_gene_variant PACA-AU 7 43484858 43484858 single base substitution C T missense_variant S696L 2087C>T PACA-AU 7 43485094 43485094 single base substitution G A downstream_gene_variant PACA-AU 7 43485094 43485094 single base substitution G A missense_variant A775T 2323G>A PACA-AU 7 43485779 43485779 single base substitution C T intron_variant PACA-AU 7 43485781 43485781 single base substitution A G intron_variant PACA-AU 7 43487742 43487742 single base substitution A G intron_variant PACA-AU 7 43489136 43489136 single base substitution C T intron_variant PACA-AU 7 43490025 43490025 single base substitution G T intron_variant PACA-AU 7 43491044 43491044 single base substitution G A intron_variant PACA-AU 7 43491859 43491859 single base substitution G A intron_variant PACA-AU 7 43496614 43496614 single base substitution A C intron_variant PACA-AU 7 43499382 43499382 single base substitution C T intron_variant PACA-AU 7 43503377 43503377 single base substitution G A missense_variant E890K 2668G>A PACA-AU 7 43503377 43503377 single base substitution G A missense_variant E924K 2770G>A PACA-AU 7 43503776 43503776 single base substitution T A intron_variant PACA-AU 7 43506878 43506878 single base substitution G A intron_variant PACA-AU 7 43509392 43509392 single base substitution G A intron_variant PACA-AU 7 43514005 43514005 single base substitution G A intron_variant PACA-AU 7 43518477 43518477 single base substitution C A intron_variant PACA-AU 7 43518477 43518477 single base substitution C A upstream_gene_variant PACA-AU 7 43521383 43521383 single base substitution A T intron_variant PACA-AU 7 43521850 43521850 single base substitution A G intron_variant PACA-AU 7 43527589 43527589 single base substitution A G downstream_gene_variant PACA-AU 7 43527589 43527589 single base substitution A G intron_variant PACA-AU 7 43527592 43527592 single base substitution G A downstream_gene_variant PACA-AU 7 43527592 43527592 single base substitution G A intron_variant PACA-AU 7 43528085 43528085 single base substitution A G downstream_gene_variant PACA-AU 7 43528085 43528085 single base substitution A G intron_variant PACA-AU 7 43530467 43530467 single base substitution G A intron_variant PACA-AU 7 43539599 43539599 single base substitution C T intron_variant PACA-AU 7 43542892 43542892 single base substitution G A intron_variant PACA-AU 7 43542898 43542898 deletion of <=200bp A - intron_variant PACA-AU 7 43543697 43543697 single base substitution C A intron_variant PACA-AU 7 43547630 43547630 single base substitution C T intron_variant PACA-AU 7 43547630 43547630 single base substitution C T missense_variant R1222W 3664C>T PACA-AU 7 43547630 43547630 single base substitution C T missense_variant R1256W 3766C>T PACA-AU 7 43554555 43554555 single base substitution G T intron_variant PACA-AU 7 43557482 43557482 single base substitution G T intron_variant PACA-AU 7 43557905 43557905 single base substitution C T intron_variant PACA-AU 7 43562235 43562235 single base substitution C A intron_variant PACA-AU 7 43562366 43562366 single base substitution C G intron_variant PACA-AU 7 43562377 43562377 single base substitution A G intron_variant PACA-AU 7 43562597 43562600 deletion of <=200bp TTGT - intron_variant PACA-AU 7 43564257 43564257 single base substitution G C intron_variant PACA-AU 7 43565065 43565065 single base substitution C T intron_variant PACA-AU 7 43566549 43566549 single base substitution G A intron_variant PACA-AU 7 43567678 43567678 single base substitution A T intron_variant PACA-AU 7 43567773 43567773 single base substitution T C intron_variant PACA-AU 7 43568342 43568342 single base substitution G A intron_variant PACA-AU 7 43572107 43572107 single base substitution C A intron_variant PACA-AU 7 43572108 43572108 single base substitution C A intron_variant PACA-AU 7 43572482 43572482 single base substitution G C intron_variant PACA-AU 7 43576572 43576572 single base substitution A G intron_variant PACA-AU 7 43580242 43580242 single base substitution A G intron_variant PACA-AU 7 43589213 43589213 single base substitution T A intron_variant PACA-AU 7 43589821 43589821 single base substitution G A intron_variant PACA-AU 7 43589965 43589965 single base substitution C T intron_variant PACA-AU 7 43598082 43598082 single base substitution A G intron_variant PACA-AU 7 43598736 43598741 deletion of <=200bp ATCTAT - intron_variant PACA-AU 7 43603492 43603492 single base substitution G C 3_prime_UTR_variant PACA-AU 7 43603492 43603492 single base substitution G C downstream_gene_variant PACA-AU 7 43603494 43603494 single base substitution A T 3_prime_UTR_variant PACA-AU 7 43603494 43603494 single base substitution A T downstream_gene_variant PACA-AU 7 43604979 43604979 single base substitution T A 3_prime_UTR_variant PACA-AU 7 43604979 43604979 single base substitution T A downstream_gene_variant PACA-AU 7 43605120 43605120 single base substitution T C 3_prime_UTR_variant PACA-AU 7 43605120 43605120 single base substitution T C downstream_gene_variant PACA-AU 7 43608567 43608567 single base substitution A G downstream_gene_variant PACA-CA 7 43149677 43149677 insertion of <=200bp - T upstream_gene_variant PACA-CA 7 43149815 43149815 single base substitution G A upstream_gene_variant PACA-CA 7 43150785 43150785 single base substitution A T upstream_gene_variant PACA-CA 7 43150796 43150796 single base substitution A G upstream_gene_variant PACA-CA 7 43151412 43151412 insertion of <=200bp - A upstream_gene_variant PACA-CA 7 43152610 43152610 single base substitution G A intron_variant PACA-CA 7 43152610 43152610 single base substitution G A upstream_gene_variant PACA-CA 7 43152983 43152983 single base substitution C A intron_variant PACA-CA 7 43152983 43152983 single base substitution C A upstream_gene_variant PACA-CA 7 43153311 43153311 single base substitution C A intron_variant PACA-CA 7 43153311 43153311 single base substitution C A upstream_gene_variant PACA-CA 7 43153323 43153323 single base substitution C T intron_variant PACA-CA 7 43153323 43153323 single base substitution C T upstream_gene_variant PACA-CA 7 43158263 43158263 single base substitution C T intron_variant PACA-CA 7 43159476 43159476 single base substitution G A intron_variant PACA-CA 7 43160542 43160542 single base substitution C T intron_variant PACA-CA 7 43161904 43161904 single base substitution C T intron_variant PACA-CA 7 43162852 43162852 single base substitution C T intron_variant PACA-CA 7 43163216 43163216 single base substitution A C intron_variant PACA-CA 7 43163216 43163216 single base substitution A G intron_variant PACA-CA 7 43163745 43163745 single base substitution C T intron_variant PACA-CA 7 43163889 43163889 single base substitution G A intron_variant PACA-CA 7 43164553 43164553 single base substitution G T intron_variant PACA-CA 7 43166032 43166032 single base substitution C T intron_variant PACA-CA 7 43166473 43166473 single base substitution G A intron_variant PACA-CA 7 43166613 43166613 single base substitution G T intron_variant PACA-CA 7 43167351 43167351 single base substitution G A intron_variant PACA-CA 7 43168680 43168680 single base substitution C T intron_variant PACA-CA 7 43169392 43169392 single base substitution A G intron_variant PACA-CA 7 43169684 43169684 deletion of <=200bp T - intron_variant PACA-CA 7 43170804 43170804 single base substitution C T intron_variant PACA-CA 7 43171910 43171925 deletion of <=200bp ATCTTCAGATGTCTCC - intron_variant PACA-CA 7 43172004 43172004 single base substitution G A intron_variant PACA-CA 7 43173853 43173853 single base substitution C T intron_variant PACA-CA 7 43176099 43176099 single base substitution G A intron_variant PACA-CA 7 43176308 43176308 single base substitution C A intron_variant PACA-CA 7 43176513 43176513 single base substitution G A intron_variant PACA-CA 7 43177274 43177274 single base substitution G A intron_variant PACA-CA 7 43178326 43178338 deletion of <=200bp AGTTTTAGGACGG - intron_variant PACA-CA 7 43178644 43178644 single base substitution G A intron_variant PACA-CA 7 43178775 43178775 single base substitution G C intron_variant PACA-CA 7 43180095 43180095 single base substitution G A intron_variant PACA-CA 7 43180241 43180241 single base substitution G A intron_variant PACA-CA 7 43180866 43180866 single base substitution C T intron_variant PACA-CA 7 43181117 43181117 single base substitution A T intron_variant PACA-CA 7 43181761 43181761 single base substitution C T intron_variant PACA-CA 7 43182751 43182751 single base substitution G A intron_variant PACA-CA 7 43183001 43183001 single base substitution G T intron_variant PACA-CA 7 43184561 43184561 single base substitution C A intron_variant PACA-CA 7 43185312 43185312 single base substitution A T intron_variant PACA-CA 7 43186040 43186040 single base substitution A G intron_variant PACA-CA 7 43186396 43186396 single base substitution C G intron_variant PACA-CA 7 43189562 43189562 single base substitution A C intron_variant PACA-CA 7 43190000 43190000 single base substitution T C intron_variant PACA-CA 7 43190487 43190487 single base substitution G A intron_variant PACA-CA 7 43196029 43196029 single base substitution T A intron_variant PACA-CA 7 43196738 43196738 single base substitution G A intron_variant PACA-CA 7 43196839 43196839 single base substitution A G intron_variant PACA-CA 7 43199568 43199568 single base substitution G A intron_variant PACA-CA 7 43199860 43199860 deletion of <=200bp C - intron_variant PACA-CA 7 43200462 43200462 single base substitution G A intron_variant PACA-CA 7 43201996 43201996 deletion of <=200bp G - intron_variant PACA-CA 7 43202270 43202270 single base substitution G A intron_variant PACA-CA 7 43205586 43205586 single base substitution G A intron_variant PACA-CA 7 43205977 43205977 single base substitution C T intron_variant PACA-CA 7 43209339 43209339 single base substitution G A intron_variant PACA-CA 7 43210531 43210531 single base substitution G C intron_variant PACA-CA 7 43213492 43213492 single base substitution G C intron_variant PACA-CA 7 43214583 43214583 single base substitution C A intron_variant PACA-CA 7 43216776 43216776 single base substitution G T intron_variant PACA-CA 7 43217322 43217322 single base substitution C T intron_variant PACA-CA 7 43218386 43218386 single base substitution G A intron_variant PACA-CA 7 43219988 43219988 single base substitution T A intron_variant PACA-CA 7 43221946 43221946 single base substitution G A intron_variant PACA-CA 7 43221994 43221994 single base substitution T C intron_variant PACA-CA 7 43224352 43224352 single base substitution A G intron_variant PACA-CA 7 43224438 43224438 single base substitution G C intron_variant PACA-CA 7 43226004 43226004 single base substitution C T intron_variant PACA-CA 7 43226110 43226110 insertion of <=200bp - A intron_variant PACA-CA 7 43226115 43226115 single base substitution A T intron_variant PACA-CA 7 43226848 43226848 single base substitution G T intron_variant PACA-CA 7 43226920 43226920 single base substitution A C intron_variant PACA-CA 7 43227347 43227347 single base substitution A G intron_variant PACA-CA 7 43227667 43227667 single base substitution G C intron_variant PACA-CA 7 43227819 43227819 single base substitution G A intron_variant PACA-CA 7 43229247 43229247 single base substitution G A intron_variant PACA-CA 7 43235633 43235633 single base substitution C A intron_variant PACA-CA 7 43237175 43237175 single base substitution C T intron_variant PACA-CA 7 43237399 43237399 single base substitution G A intron_variant PACA-CA 7 43240694 43240694 single base substitution G A intron_variant PACA-CA 7 43241063 43241063 single base substitution C T intron_variant PACA-CA 7 43241136 43241136 single base substitution G A intron_variant PACA-CA 7 43242141 43242141 single base substitution C T intron_variant PACA-CA 7 43242691 43242691 single base substitution G A intron_variant PACA-CA 7 43244511 43244511 single base substitution T G intron_variant PACA-CA 7 43245649 43245649 single base substitution G A intron_variant PACA-CA 7 43245888 43245888 single base substitution T C intron_variant PACA-CA 7 43245962 43245962 single base substitution C T intron_variant PACA-CA 7 43249076 43249076 single base substitution G A intron_variant PACA-CA 7 43249796 43249796 single base substitution C A intron_variant PACA-CA 7 43250251 43250251 single base substitution C T intron_variant PACA-CA 7 43250463 43250463 single base substitution C T intron_variant PACA-CA 7 43250935 43250935 single base substitution T C intron_variant PACA-CA 7 43251034 43251034 single base substitution C T intron_variant PACA-CA 7 43251597 43251597 single base substitution A G intron_variant PACA-CA 7 43251679 43251679 single base substitution A G intron_variant PACA-CA 7 43253259 43253259 single base substitution T C intron_variant PACA-CA 7 43254062 43254062 single base substitution T A intron_variant PACA-CA 7 43254109 43254109 single base substitution A G intron_variant PACA-CA 7 43254246 43254246 single base substitution G T intron_variant PACA-CA 7 43254547 43254547 single base substitution G A intron_variant PACA-CA 7 43255566 43255566 single base substitution T C intron_variant PACA-CA 7 43255590 43255590 single base substitution C T intron_variant PACA-CA 7 43256618 43256618 single base substitution G A intron_variant PACA-CA 7 43257441 43257441 single base substitution A T intron_variant PACA-CA 7 43257562 43257562 single base substitution G A intron_variant PACA-CA 7 43258675 43258675 single base substitution G A intron_variant PACA-CA 7 43258726 43258726 single base substitution C A intron_variant PACA-CA 7 43260167 43260167 single base substitution C A intron_variant PACA-CA 7 43260182 43260182 single base substitution G A intron_variant PACA-CA 7 43260318 43260318 single base substitution A G intron_variant PACA-CA 7 43261111 43261111 single base substitution C T intron_variant PACA-CA 7 43261395 43261410 deletion of <=200bp TGGCCTCCCAAAGTGC - intron_variant PACA-CA 7 43263558 43263558 single base substitution C T intron_variant PACA-CA 7 43264237 43264237 single base substitution G A intron_variant PACA-CA 7 43264301 43264301 single base substitution C G intron_variant PACA-CA 7 43264433 43264433 single base substitution A G intron_variant PACA-CA 7 43265450 43265450 single base substitution C T intron_variant PACA-CA 7 43267789 43267789 single base substitution G A intron_variant PACA-CA 7 43268086 43268086 single base substitution G A intron_variant PACA-CA 7 43268347 43268347 single base substitution G A intron_variant PACA-CA 7 43271106 43271106 single base substitution G T intron_variant PACA-CA 7 43272805 43272805 deletion of <=200bp A - intron_variant PACA-CA 7 43274012 43274012 single base substitution C T intron_variant PACA-CA 7 43274351 43274351 single base substitution C T intron_variant PACA-CA 7 43274556 43274556 single base substitution G T intron_variant PACA-CA 7 43274581 43274581 single base substitution T C intron_variant PACA-CA 7 43275292 43275292 single base substitution G A intron_variant PACA-CA 7 43277524 43277524 single base substitution G T intron_variant PACA-CA 7 43278798 43278798 single base substitution G C intron_variant PACA-CA 7 43279639 43279639 single base substitution T G intron_variant PACA-CA 7 43279646 43279646 single base substitution T A intron_variant PACA-CA 7 43279669 43279669 single base substitution C T intron_variant PACA-CA 7 43280814 43280814 single base substitution C T intron_variant PACA-CA 7 43282510 43282510 single base substitution A G intron_variant PACA-CA 7 43282532 43282532 single base substitution G A intron_variant PACA-CA 7 43284494 43284494 single base substitution C T intron_variant PACA-CA 7 43284494 43284494 single base substitution C T upstream_gene_variant PACA-CA 7 43284779 43284779 single base substitution C G intron_variant PACA-CA 7 43284779 43284779 single base substitution C G upstream_gene_variant PACA-CA 7 43285878 43285878 single base substitution C T intron_variant PACA-CA 7 43285878 43285878 single base substitution C T upstream_gene_variant PACA-CA 7 43287694 43287694 single base substitution G T intron_variant PACA-CA 7 43287694 43287694 single base substitution G T upstream_gene_variant PACA-CA 7 43289616 43289616 single base substitution C T intron_variant PACA-CA 7 43290137 43290137 single base substitution G A intron_variant PACA-CA 7 43290175 43290175 single base substitution G A intron_variant PACA-CA 7 43291715 43291715 single base substitution C A intron_variant PACA-CA 7 43292774 43292774 single base substitution C T intron_variant PACA-CA 7 43293937 43293937 single base substitution G C intron_variant PACA-CA 7 43294790 43294790 single base substitution G T intron_variant PACA-CA 7 43296081 43296081 single base substitution G A intron_variant PACA-CA 7 43296455 43296455 single base substitution G T intron_variant PACA-CA 7 43297786 43297786 single base substitution A G intron_variant PACA-CA 7 43298516 43298516 single base substitution C G downstream_gene_variant PACA-CA 7 43298516 43298516 single base substitution C G intron_variant PACA-CA 7 43299835 43299835 single base substitution G T downstream_gene_variant PACA-CA 7 43299835 43299835 single base substitution G T intron_variant PACA-CA 7 43300868 43300868 single base substitution C T downstream_gene_variant PACA-CA 7 43300868 43300868 single base substitution C T intron_variant PACA-CA 7 43304053 43304053 deletion of <=200bp T - intron_variant PACA-CA 7 43304375 43304375 single base substitution G A intron_variant PACA-CA 7 43304798 43304798 single base substitution G T intron_variant PACA-CA 7 43305246 43305246 single base substitution G C intron_variant PACA-CA 7 43305354 43305354 single base substitution G C intron_variant PACA-CA 7 43305998 43305998 single base substitution G A intron_variant PACA-CA 7 43306124 43306124 single base substitution G A intron_variant PACA-CA 7 43306887 43306887 single base substitution C T intron_variant PACA-CA 7 43308858 43308858 single base substitution T C intron_variant PACA-CA 7 43313746 43313746 single base substitution G A intron_variant PACA-CA 7 43314194 43314194 single base substitution C T intron_variant PACA-CA 7 43315651 43315651 single base substitution G A intron_variant PACA-CA 7 43316888 43316888 single base substitution G A intron_variant PACA-CA 7 43318619 43318619 single base substitution G A intron_variant PACA-CA 7 43319738 43319738 single base substitution C T intron_variant PACA-CA 7 43320853 43320853 single base substitution C G intron_variant PACA-CA 7 43322917 43322917 single base substitution G A intron_variant PACA-CA 7 43323323 43323323 single base substitution C T intron_variant PACA-CA 7 43325252 43325252 single base substitution A T intron_variant PACA-CA 7 43327444 43327444 single base substitution C T intron_variant PACA-CA 7 43329008 43329008 single base substitution G A intron_variant PACA-CA 7 43330652 43330652 deletion of <=200bp A - intron_variant PACA-CA 7 43331936 43331936 single base substitution C T intron_variant PACA-CA 7 43332755 43332755 single base substitution G A intron_variant PACA-CA 7 43336098 43336098 single base substitution G A intron_variant PACA-CA 7 43337492 43337492 single base substitution G A intron_variant PACA-CA 7 43337857 43337857 single base substitution C T intron_variant PACA-CA 7 43338415 43338415 single base substitution G A intron_variant PACA-CA 7 43338455 43338455 single base substitution C A intron_variant PACA-CA 7 43338716 43338716 single base substitution C T intron_variant PACA-CA 7 43340596 43340596 single base substitution G T intron_variant PACA-CA 7 43341398 43341398 single base substitution C T intron_variant PACA-CA 7 43342940 43342940 deletion of <=200bp C - intron_variant PACA-CA 7 43343137 43343137 single base substitution G T intron_variant PACA-CA 7 43343673 43343673 single base substitution G T intron_variant PACA-CA 7 43345108 43345108 single base substitution G T intron_variant PACA-CA 7 43349386 43349386 single base substitution G C intron_variant PACA-CA 7 43350006 43350006 insertion of <=200bp - A intron_variant PACA-CA 7 43356975 43356975 single base substitution C A intron_variant PACA-CA 7 43357077 43357077 single base substitution T G intron_variant PACA-CA 7 43358454 43358454 single base substitution G A intron_variant PACA-CA 7 43359952 43359952 single base substitution C T intron_variant PACA-CA 7 43360074 43360074 single base substitution G A intron_variant PACA-CA 7 43361507 43361507 single base substitution G A intron_variant PACA-CA 7 43361717 43361717 single base substitution G A intron_variant PACA-CA 7 43363582 43363582 single base substitution G A intron_variant PACA-CA 7 43363611 43363611 single base substitution C T intron_variant PACA-CA 7 43364525 43364525 single base substitution C G intron_variant PACA-CA 7 43365133 43365133 single base substitution G A intron_variant PACA-CA 7 43366468 43366468 single base substitution G A intron_variant PACA-CA 7 43367665 43367665 single base substitution G A intron_variant PACA-CA 7 43369122 43369122 single base substitution T C intron_variant PACA-CA 7 43370031 43370031 single base substitution T C intron_variant PACA-CA 7 43370695 43370695 single base substitution G A intron_variant PACA-CA 7 43372066 43372066 single base substitution C T intron_variant PACA-CA 7 43372195 43372195 single base substitution C T intron_variant PACA-CA 7 43372533 43372533 single base substitution G A intron_variant PACA-CA 7 43374669 43374669 single base substitution A G intron_variant PACA-CA 7 43375723 43375723 single base substitution T C intron_variant PACA-CA 7 43375769 43375769 single base substitution C T intron_variant PACA-CA 7 43375943 43375943 single base substitution T A intron_variant PACA-CA 7 43378314 43378314 single base substitution G A intron_variant PACA-CA 7 43378496 43378496 single base substitution G T intron_variant PACA-CA 7 43379353 43379353 single base substitution C T intron_variant PACA-CA 7 43380507 43380507 single base substitution C G intron_variant PACA-CA 7 43381004 43381004 single base substitution G A intron_variant PACA-CA 7 43381478 43381478 single base substitution A G intron_variant PACA-CA 7 43382444 43382444 single base substitution G A intron_variant PACA-CA 7 43383105 43383105 single base substitution A G intron_variant PACA-CA 7 43383992 43383992 single base substitution G T intron_variant PACA-CA 7 43384656 43384656 single base substitution G A intron_variant PACA-CA 7 43384852 43384852 single base substitution T A intron_variant PACA-CA 7 43385430 43385431 deletion of <=200bp AT - intron_variant PACA-CA 7 43388133 43388133 single base substitution G A intron_variant PACA-CA 7 43388559 43388559 single base substitution A G intron_variant PACA-CA 7 43388644 43388644 insertion of <=200bp - T intron_variant PACA-CA 7 43388790 43388790 single base substitution C T intron_variant PACA-CA 7 43389593 43389593 single base substitution C T intron_variant PACA-CA 7 43390095 43390095 single base substitution G A intron_variant PACA-CA 7 43392191 43392192 deletion of <=200bp AT - intron_variant PACA-CA 7 43393300 43393300 single base substitution G T intron_variant PACA-CA 7 43398647 43398647 single base substitution A T intron_variant PACA-CA 7 43403218 43403218 single base substitution G A intron_variant PACA-CA 7 43403988 43403988 single base substitution G A intron_variant PACA-CA 7 43407313 43407313 single base substitution G C intron_variant PACA-CA 7 43407402 43407402 single base substitution G T intron_variant PACA-CA 7 43407462 43407462 single base substitution C T intron_variant PACA-CA 7 43408516 43408516 single base substitution A G intron_variant PACA-CA 7 43408989 43408989 single base substitution G A intron_variant PACA-CA 7 43409606 43409606 single base substitution G A intron_variant PACA-CA 7 43411420 43411420 single base substitution G A intron_variant PACA-CA 7 43411717 43411717 single base substitution G A intron_variant PACA-CA 7 43412924 43412946 deletion of <=200bp TGAATTTTGTATTTTAGTCGAGA - intron_variant PACA-CA 7 43412924 43412946 deletion of <=200bp TGAATTTTGTATTTTAGTCGAGA - upstream_gene_variant PACA-CA 7 43413108 43413108 deletion of <=200bp T - intron_variant PACA-CA 7 43413108 43413108 deletion of <=200bp T - upstream_gene_variant PACA-CA 7 43415651 43415651 single base substitution A G intron_variant PACA-CA 7 43415651 43415651 single base substitution A G upstream_gene_variant PACA-CA 7 43417476 43417476 single base substitution C A exon_variant PACA-CA 7 43417476 43417476 single base substitution C A intron_variant PACA-CA 7 43418325 43418325 single base substitution A G intron_variant PACA-CA 7 43418587 43418587 deletion of <=200bp G - intron_variant PACA-CA 7 43419387 43419387 single base substitution C A intron_variant PACA-CA 7 43421353 43421353 single base substitution C A intron_variant PACA-CA 7 43421622 43421622 single base substitution C T intron_variant PACA-CA 7 43424139 43424139 single base substitution G A intron_variant PACA-CA 7 43424228 43424228 insertion of <=200bp - A intron_variant PACA-CA 7 43429863 43429863 single base substitution G A intron_variant PACA-CA 7 43430148 43430148 single base substitution C A intron_variant PACA-CA 7 43430548 43430548 deletion of <=200bp G - intron_variant PACA-CA 7 43432367 43432367 single base substitution A G intron_variant PACA-CA 7 43432367 43432367 single base substitution A G upstream_gene_variant PACA-CA 7 43434385 43434385 single base substitution G T intron_variant PACA-CA 7 43434385 43434385 single base substitution G T upstream_gene_variant PACA-CA 7 43438023 43438023 single base substitution G C intron_variant PACA-CA 7 43438227 43438227 single base substitution A T intron_variant PACA-CA 7 43438314 43438314 single base substitution G A intron_variant PACA-CA 7 43439872 43439872 insertion of <=200bp - A intron_variant PACA-CA 7 43440006 43440006 single base substitution G C intron_variant PACA-CA 7 43441185 43441185 single base substitution T C intron_variant PACA-CA 7 43442038 43442038 single base substitution G C intron_variant PACA-CA 7 43443096 43443096 single base substitution C T intron_variant PACA-CA 7 43446209 43446209 single base substitution G C intron_variant PACA-CA 7 43446350 43446350 single base substitution C G intron_variant PACA-CA 7 43447827 43447827 single base substitution G C downstream_gene_variant PACA-CA 7 43447827 43447827 single base substitution G C intron_variant PACA-CA 7 43449597 43449597 single base substitution T C downstream_gene_variant PACA-CA 7 43449597 43449597 single base substitution T C intron_variant PACA-CA 7 43450105 43450105 insertion of <=200bp - AC downstream_gene_variant PACA-CA 7 43450105 43450105 insertion of <=200bp - AC intron_variant PACA-CA 7 43455066 43455066 single base substitution T C intron_variant PACA-CA 7 43455688 43455688 single base substitution G A intron_variant PACA-CA 7 43456689 43456689 single base substitution G A intron_variant PACA-CA 7 43458932 43458932 single base substitution C A intron_variant PACA-CA 7 43459803 43459803 single base substitution C A intron_variant PACA-CA 7 43460752 43460752 single base substitution G A intron_variant PACA-CA 7 43462192 43462192 single base substitution G T intron_variant PACA-CA 7 43462801 43462801 insertion of <=200bp - CAGC intron_variant PACA-CA 7 43463653 43463653 single base substitution T A intron_variant PACA-CA 7 43463687 43463687 single base substitution A G intron_variant PACA-CA 7 43465590 43465590 single base substitution T G intron_variant PACA-CA 7 43467993 43467993 single base substitution T G intron_variant PACA-CA 7 43475514 43475514 single base substitution A G intron_variant PACA-CA 7 43476613 43476613 single base substitution C T intron_variant PACA-CA 7 43477670 43477670 single base substitution C T exon_variant PACA-CA 7 43477670 43477670 single base substitution C T synonymous_variant S290S 870C>T PACA-CA 7 43480086 43480086 single base substitution C T downstream_gene_variant PACA-CA 7 43480086 43480086 single base substitution C T exon_variant PACA-CA 7 43480086 43480086 single base substitution C T intron_variant PACA-CA 7 43484652 43484652 single base substitution G A downstream_gene_variant PACA-CA 7 43484652 43484652 single base substitution G A synonymous_variant T627T 1881G>A PACA-CA 7 43485103 43485103 single base substitution G A downstream_gene_variant PACA-CA 7 43485103 43485103 single base substitution G A missense_variant G778R 2332G>A PACA-CA 7 43486009 43486009 deletion of <=200bp A - intron_variant PACA-CA 7 43486062 43486062 single base substitution G T intron_variant PACA-CA 7 43487491 43487491 single base substitution G A intron_variant PACA-CA 7 43487754 43487754 single base substitution A G intron_variant PACA-CA 7 43489399 43489399 single base substitution C T intron_variant PACA-CA 7 43489718 43489718 single base substitution T G intron_variant PACA-CA 7 43490830 43490830 single base substitution T C intron_variant PACA-CA 7 43491469 43491469 single base substitution G A intron_variant PACA-CA 7 43493952 43493952 single base substitution G T intron_variant PACA-CA 7 43495152 43495152 single base substitution G A intron_variant PACA-CA 7 43496502 43496502 single base substitution G T intron_variant PACA-CA 7 43497490 43497490 single base substitution G A intron_variant PACA-CA 7 43497802 43497802 single base substitution G A intron_variant PACA-CA 7 43499046 43499046 insertion of <=200bp - T intron_variant PACA-CA 7 43500136 43500136 single base substitution C T intron_variant PACA-CA 7 43500433 43500433 single base substitution G A intron_variant PACA-CA 7 43501310 43501310 single base substitution A G intron_variant PACA-CA 7 43501870 43501870 single base substitution G T intron_variant PACA-CA 7 43503349 43503349 single base substitution C T synonymous_variant G880G 2640C>T PACA-CA 7 43503349 43503349 single base substitution C T synonymous_variant G914G 2742C>T PACA-CA 7 43505479 43505479 single base substitution C T intron_variant PACA-CA 7 43506937 43506937 single base substitution G A intron_variant PACA-CA 7 43508588 43508588 single base substitution C T missense_variant R961C 2881C>T PACA-CA 7 43508588 43508588 single base substitution C T missense_variant R995C 2983C>T PACA-CA 7 43512543 43512543 single base substitution G T intron_variant PACA-CA 7 43513976 43513976 single base substitution A C intron_variant PACA-CA 7 43514971 43514971 single base substitution G A intron_variant PACA-CA 7 43514971 43514971 single base substitution G A upstream_gene_variant PACA-CA 7 43515420 43515420 single base substitution C T intron_variant PACA-CA 7 43515420 43515420 single base substitution C T upstream_gene_variant PACA-CA 7 43518630 43518630 single base substitution G C intron_variant PACA-CA 7 43518630 43518630 single base substitution G C upstream_gene_variant PACA-CA 7 43519077 43519077 single base substitution G A intron_variant PACA-CA 7 43519077 43519077 single base substitution G A upstream_gene_variant PACA-CA 7 43519204 43519204 single base substitution C T splice_region_variant PACA-CA 7 43519204 43519204 single base substitution C T upstream_gene_variant PACA-CA 7 43519921 43519921 single base substitution C T intron_variant PACA-CA 7 43520337 43520337 single base substitution C T intron_variant PACA-CA 7 43520575 43520575 single base substitution A G intron_variant PACA-CA 7 43521631 43521631 single base substitution C T intron_variant PACA-CA 7 43521755 43521755 single base substitution G C intron_variant PACA-CA 7 43523966 43523966 single base substitution T C exon_variant PACA-CA 7 43523966 43523966 single base substitution T C intron_variant PACA-CA 7 43524572 43524572 single base substitution C A downstream_gene_variant PACA-CA 7 43524572 43524572 single base substitution C A intron_variant PACA-CA 7 43525803 43525803 single base substitution T C downstream_gene_variant PACA-CA 7 43525803 43525803 single base substitution T C intron_variant PACA-CA 7 43526857 43526857 single base substitution A T downstream_gene_variant PACA-CA 7 43526857 43526857 single base substitution A T intron_variant PACA-CA 7 43527095 43527095 single base substitution C A downstream_gene_variant PACA-CA 7 43527095 43527095 single base substitution C A intron_variant PACA-CA 7 43527150 43527150 single base substitution G C downstream_gene_variant PACA-CA 7 43527150 43527150 single base substitution G C intron_variant PACA-CA 7 43527864 43527864 single base substitution G A downstream_gene_variant PACA-CA 7 43527864 43527864 single base substitution G A intron_variant PACA-CA 7 43529269 43529269 single base substitution C T intron_variant PACA-CA 7 43533073 43533073 single base substitution T A intron_variant PACA-CA 7 43533586 43533586 single base substitution G A intron_variant PACA-CA 7 43536170 43536170 single base substitution A G intron_variant PACA-CA 7 43537327 43537327 single base substitution G C intron_variant PACA-CA 7 43538753 43538753 single base substitution G A intron_variant PACA-CA 7 43539927 43539927 single base substitution G A intron_variant PACA-CA 7 43541074 43541074 single base substitution G C intron_variant PACA-CA 7 43542834 43542834 single base substitution C T intron_variant PACA-CA 7 43544926 43544926 single base substitution C T intron_variant PACA-CA 7 43545261 43545261 single base substitution C A intron_variant PACA-CA 7 43546511 43546511 insertion of <=200bp - A intron_variant PACA-CA 7 43546675 43546675 insertion of <=200bp - A intron_variant PACA-CA 7 43547184 43547184 single base substitution C A intron_variant PACA-CA 7 43547628 43547628 single base substitution G A intron_variant PACA-CA 7 43547628 43547628 single base substitution G A missense_variant R1221H 3662G>A PACA-CA 7 43547628 43547628 single base substitution G A missense_variant R1255H 3764G>A PACA-CA 7 43547908 43547908 single base substitution C T intron_variant PACA-CA 7 43549106 43549106 single base substitution G A intron_variant PACA-CA 7 43553452 43553452 single base substitution G C intron_variant PACA-CA 7 43553533 43553533 single base substitution G T intron_variant PACA-CA 7 43556606 43556606 single base substitution C T intron_variant PACA-CA 7 43558391 43558391 single base substitution A G intron_variant PACA-CA 7 43559199 43559199 single base substitution T A intron_variant PACA-CA 7 43561504 43561504 single base substitution C T intron_variant PACA-CA 7 43562295 43562295 single base substitution G T intron_variant PACA-CA 7 43564004 43564004 single base substitution G T intron_variant PACA-CA 7 43566898 43566898 single base substitution G T intron_variant PACA-CA 7 43569106 43569106 single base substitution C A intron_variant PACA-CA 7 43572692 43572692 single base substitution A G intron_variant PACA-CA 7 43572968 43572968 single base substitution T A intron_variant PACA-CA 7 43576803 43576803 single base substitution G A intron_variant PACA-CA 7 43578241 43578241 single base substitution C T intron_variant PACA-CA 7 43582169 43582169 deletion of <=200bp T - downstream_gene_variant PACA-CA 7 43582169 43582169 deletion of <=200bp T - intron_variant PACA-CA 7 43587028 43587028 single base substitution C A intron_variant PACA-CA 7 43591260 43591260 single base substitution G A intron_variant PACA-CA 7 43593612 43593612 single base substitution C G intron_variant PACA-CA 7 43596145 43596145 single base substitution G T intron_variant PACA-CA 7 43596746 43596746 single base substitution C T intron_variant PACA-CA 7 43599027 43599027 single base substitution T A intron_variant PACA-CA 7 43600162 43600162 single base substitution G A intron_variant PACA-CA 7 43600338 43600338 deletion of <=200bp A - intron_variant PACA-CA 7 43603371 43603371 single base substitution G T 3_prime_UTR_variant PACA-CA 7 43603371 43603371 single base substitution G T downstream_gene_variant PACA-CA 7 43603921 43603921 single base substitution G A 3_prime_UTR_variant PACA-CA 7 43603921 43603921 single base substitution G A downstream_gene_variant PACA-CA 7 43605187 43605187 single base substitution A T 3_prime_UTR_variant PACA-CA 7 43605187 43605187 single base substitution A T downstream_gene_variant PACA-CA 7 43608588 43608588 single base substitution A G downstream_gene_variant PAEN-AU 7 43162254 43162254 insertion of <=200bp - A intron_variant PAEN-AU 7 43162895 43162895 single base substitution C T intron_variant PAEN-AU 7 43194618 43194618 single base substitution C T intron_variant PAEN-AU 7 43208486 43208486 single base substitution C G intron_variant PAEN-AU 7 43222366 43222366 single base substitution T C intron_variant PAEN-AU 7 43240693 43240693 single base substitution C T intron_variant PAEN-AU 7 43240941 43240941 single base substitution T C intron_variant PAEN-AU 7 43245583 43245583 single base substitution A C intron_variant PAEN-AU 7 43285888 43285888 single base substitution C T intron_variant PAEN-AU 7 43285888 43285888 single base substitution C T upstream_gene_variant PAEN-AU 7 43297665 43297665 single base substitution G A intron_variant PAEN-AU 7 43312392 43312392 single base substitution G A intron_variant PAEN-AU 7 43315340 43315340 single base substitution A C intron_variant PAEN-AU 7 43316654 43316654 single base substitution T C intron_variant PAEN-AU 7 43334785 43334785 single base substitution C A intron_variant PAEN-AU 7 43344465 43344465 single base substitution G T intron_variant PAEN-AU 7 43363587 43363587 single base substitution C T intron_variant PAEN-AU 7 43374326 43374326 single base substitution C A intron_variant PAEN-AU 7 43375763 43375763 single base substitution C T intron_variant PAEN-AU 7 43409636 43409636 single base substitution A G intron_variant PAEN-AU 7 43415357 43415357 single base substitution T G intron_variant PAEN-AU 7 43415357 43415357 single base substitution T G upstream_gene_variant PAEN-AU 7 43420030 43420030 single base substitution T A intron_variant PAEN-AU 7 43463393 43463393 single base substitution G A intron_variant PAEN-AU 7 43471168 43471168 single base substitution C A intron_variant PAEN-AU 7 43485779 43485779 single base substitution C T intron_variant PAEN-AU 7 43500432 43500432 single base substitution C T intron_variant PAEN-AU 7 43520299 43520299 single base substitution C T intron_variant PAEN-AU 7 43528085 43528085 single base substitution A G downstream_gene_variant PAEN-AU 7 43528085 43528085 single base substitution A G intron_variant PAEN-AU 7 43529220 43529220 single base substitution G T intron_variant PAEN-AU 7 43548048 43548048 single base substitution C T intron_variant PAEN-AU 7 43555931 43555931 single base substitution G T intron_variant PAEN-AU 7 43562597 43562600 deletion of <=200bp TTGT - intron_variant PAEN-AU 7 43577395 43577395 single base substitution T A intron_variant PAEN-IT 7 43154291 43154291 single base substitution G C intron_variant PAEN-IT 7 43177591 43177591 single base substitution A C intron_variant PAEN-IT 7 43188194 43188194 single base substitution A T intron_variant PAEN-IT 7 43202356 43202356 single base substitution A T intron_variant PAEN-IT 7 43204921 43204921 single base substitution C A intron_variant PAEN-IT 7 43276551 43276551 single base substitution C A intron_variant PAEN-IT 7 43291728 43291728 single base substitution A T intron_variant PAEN-IT 7 43338795 43338795 single base substitution G T intron_variant PAEN-IT 7 43380983 43380983 single base substitution G T intron_variant PAEN-IT 7 43398105 43398105 single base substitution C A intron_variant PAEN-IT 7 43410237 43410237 single base substitution C T intron_variant PAEN-IT 7 43410338 43410338 single base substitution G T intron_variant PAEN-IT 7 43419612 43419612 single base substitution A T intron_variant PAEN-IT 7 43426277 43426277 single base substitution C G intron_variant PAEN-IT 7 43445524 43445524 single base substitution A C intron_variant PAEN-IT 7 43463483 43463483 single base substitution T A intron_variant PAEN-IT 7 43463937 43463937 single base substitution G C intron_variant PAEN-IT 7 43506223 43506223 single base substitution G T intron_variant PAEN-IT 7 43508879 43508879 single base substitution C A intron_variant PAEN-IT 7 43512172 43512172 single base substitution T C intron_variant PAEN-IT 7 43516631 43516631 single base substitution G T intron_variant PAEN-IT 7 43516631 43516631 single base substitution G T upstream_gene_variant PAEN-IT 7 43528085 43528085 single base substitution A G downstream_gene_variant PAEN-IT 7 43528085 43528085 single base substitution A G intron_variant PAEN-IT 7 43528711 43528711 single base substitution T A downstream_gene_variant PAEN-IT 7 43528711 43528711 single base substitution T A intron_variant PAEN-IT 7 43568929 43568929 single base substitution G T intron_variant PAEN-IT 7 43597968 43597968 single base substitution G T intron_variant PAEN-IT 7 43603369 43603369 single base substitution G A 3_prime_UTR_variant PAEN-IT 7 43603369 43603369 single base substitution G A downstream_gene_variant PBCA-DE 7 43154330 43154330 insertion of <=200bp - T intron_variant PBCA-DE 7 43165870 43165870 insertion of <=200bp - A intron_variant PBCA-DE 7 43185842 43185842 single base substitution C A intron_variant PBCA-DE 7 43192628 43192628 single base substitution C T intron_variant PBCA-DE 7 43199835 43199835 deletion of <=200bp C - intron_variant PBCA-DE 7 43203717 43203717 single base substitution G C intron_variant PBCA-DE 7 43218923 43218923 single base substitution A G intron_variant PBCA-DE 7 43219975 43219979 deletion of <=200bp TATTA - intron_variant PBCA-DE 7 43221288 43221288 single base substitution C A intron_variant PBCA-DE 7 43241523 43241523 single base substitution C T intron_variant PBCA-DE 7 43245840 43245840 single base substitution A G intron_variant PBCA-DE 7 43250050 43250051 deletion of <=200bp GT - intron_variant PBCA-DE 7 43255032 43255032 single base substitution T C intron_variant PBCA-DE 7 43260390 43260390 single base substitution C A intron_variant PBCA-DE 7 43261026 43261026 insertion of <=200bp - G intron_variant PBCA-DE 7 43263378 43263378 single base substitution G T intron_variant PBCA-DE 7 43264666 43264666 single base substitution G A intron_variant PBCA-DE 7 43281216 43281217 deletion of <=200bp TG - intron_variant PBCA-DE 7 43287574 43287574 single base substitution A T intron_variant PBCA-DE 7 43287574 43287574 single base substitution A T upstream_gene_variant PBCA-DE 7 43287754 43287757 deletion of <=200bp AGAG - intron_variant PBCA-DE 7 43287754 43287757 deletion of <=200bp AGAG - upstream_gene_variant PBCA-DE 7 43287937 43287937 deletion of <=200bp A - intron_variant PBCA-DE 7 43287937 43287937 deletion of <=200bp A - upstream_gene_variant PBCA-DE 7 43294504 43294504 single base substitution C T intron_variant PBCA-DE 7 43294690 43294690 single base substitution C A intron_variant PBCA-DE 7 43297042 43297042 single base substitution G A intron_variant PBCA-DE 7 43301847 43301847 insertion of <=200bp - GTGTGTGTGT downstream_gene_variant PBCA-DE 7 43301847 43301847 insertion of <=200bp - GTGTGTGTGT intron_variant PBCA-DE 7 43301847 43301848 deletion of <=200bp GT - downstream_gene_variant PBCA-DE 7 43301847 43301848 deletion of <=200bp GT - intron_variant PBCA-DE 7 43305812 43305812 single base substitution G A intron_variant PBCA-DE 7 43315308 43315309 deletion of <=200bp CA - intron_variant PBCA-DE 7 43322022 43322022 insertion of <=200bp - GTC intron_variant PBCA-DE 7 43324248 43324251 deletion of <=200bp TTCT - intron_variant PBCA-DE 7 43325392 43325392 insertion of <=200bp - AAAAT intron_variant PBCA-DE 7 43332114 43332114 single base substitution T C intron_variant PBCA-DE 7 43340172 43340172 single base substitution G A intron_variant PBCA-DE 7 43345365 43345365 insertion of <=200bp - T intron_variant PBCA-DE 7 43349951 43349951 insertion of <=200bp - TACGTA intron_variant PBCA-DE 7 43356388 43356388 deletion of <=200bp T - downstream_gene_variant PBCA-DE 7 43356388 43356388 deletion of <=200bp T - intron_variant PBCA-DE 7 43372057 43372057 single base substitution T G intron_variant PBCA-DE 7 43385767 43385767 insertion of <=200bp - T intron_variant PBCA-DE 7 43391940 43391940 single base substitution C T intron_variant PBCA-DE 7 43392089 43392089 single base substitution T G intron_variant PBCA-DE 7 43403369 43403369 single base substitution G A intron_variant PBCA-DE 7 43409909 43409909 single base substitution G T intron_variant PBCA-DE 7 43413441 43413441 single base substitution C T intron_variant PBCA-DE 7 43413441 43413441 single base substitution C T upstream_gene_variant PBCA-DE 7 43419681 43419681 single base substitution C G intron_variant PBCA-DE 7 43423410 43423410 single base substitution C T intron_variant PBCA-DE 7 43439865 43439865 single base substitution C A intron_variant PBCA-DE 7 43441999 43441999 single base substitution C T intron_variant PBCA-DE 7 43471192 43471192 single base substitution C A intron_variant PBCA-DE 7 43472495 43472495 single base substitution A T intron_variant PBCA-DE 7 43473642 43473642 insertion of <=200bp - A intron_variant PBCA-DE 7 43484497 43484497 single base substitution G A downstream_gene_variant PBCA-DE 7 43484497 43484497 single base substitution G A missense_variant G576S 1726G>A PBCA-DE 7 43486009 43486009 deletion of <=200bp A - intron_variant PBCA-DE 7 43494438 43494438 single base substitution C A intron_variant PBCA-DE 7 43500159 43500160 deletion of <=200bp GT - intron_variant PBCA-DE 7 43519946 43519946 single base substitution C T intron_variant PBCA-DE 7 43521488 43521488 insertion of <=200bp - GGCAGGAGAAT intron_variant PBCA-DE 7 43537722 43537722 single base substitution C T intron_variant PBCA-DE 7 43539572 43539572 single base substitution G A intron_variant PBCA-DE 7 43540117 43540117 single base substitution C T intron_variant PBCA-DE 7 43540263 43540263 single base substitution C T intron_variant PBCA-DE 7 43542103 43542103 single base substitution T A intron_variant PBCA-DE 7 43544132 43544132 single base substitution G A intron_variant PBCA-DE 7 43554187 43554187 single base substitution C A intron_variant PBCA-DE 7 43557135 43557135 single base substitution C T intron_variant PBCA-DE 7 43557932 43557932 deletion of <=200bp A - intron_variant PBCA-DE 7 43571792 43571792 single base substitution C T intron_variant PBCA-DE 7 43575068 43575068 single base substitution G A intron_variant PBCA-DE 7 43580793 43580793 single base substitution G A missense_variant A1317T 3949G>A PBCA-DE 7 43580793 43580793 single base substitution G A missense_variant A1351T 4051G>A PBCA-DE 7 43580793 43580793 single base substitution G A missense_variant A74T 220G>A PBCA-DE 7 43590081 43590081 single base substitution C A missense_variant T1395K 4184C>A PBCA-DE 7 43590081 43590081 single base substitution C A missense_variant T1429K 4286C>A PBCA-DE 7 43591536 43591536 single base substitution G C intron_variant PBCA-DE 7 43591628 43591628 single base substitution A G intron_variant PBCA-DE 7 43596115 43596115 single base substitution G A intron_variant PBCA-DE 7 43596650 43596650 single base substitution C T intron_variant PBCA-DE 7 43600554 43600554 single base substitution C T intron_variant PRAD-CA 7 43147420 43147420 single base substitution C A upstream_gene_variant PRAD-CA 7 43148292 43148292 single base substitution T C upstream_gene_variant PRAD-CA 7 43150392 43150392 single base substitution T G upstream_gene_variant PRAD-CA 7 43166930 43166930 single base substitution C T intron_variant PRAD-CA 7 43175851 43175851 single base substitution C T intron_variant PRAD-CA 7 43183686 43183686 single base substitution A G intron_variant PRAD-CA 7 43191064 43191064 single base substitution T C intron_variant PRAD-CA 7 43193048 43193048 single base substitution C T intron_variant PRAD-CA 7 43198922 43198922 single base substitution T C intron_variant PRAD-CA 7 43211127 43211127 single base substitution C A intron_variant PRAD-CA 7 43223562 43223562 single base substitution A T intron_variant PRAD-CA 7 43232430 43232430 single base substitution C T intron_variant PRAD-CA 7 43258365 43258365 single base substitution G T intron_variant PRAD-CA 7 43264942 43264942 single base substitution C T intron_variant PRAD-CA 7 43267080 43267080 single base substitution A G intron_variant PRAD-CA 7 43309437 43309437 single base substitution G T intron_variant PRAD-CA 7 43346196 43346196 single base substitution T A intron_variant PRAD-CA 7 43347487 43347487 single base substitution A C intron_variant PRAD-CA 7 43347492 43347492 single base substitution T C intron_variant PRAD-CA 7 43374809 43374809 single base substitution C T intron_variant PRAD-CA 7 43375753 43375753 single base substitution C T intron_variant PRAD-CA 7 43375755 43375755 single base substitution C T intron_variant PRAD-CA 7 43384230 43384230 single base substitution G T intron_variant PRAD-CA 7 43396065 43396065 single base substitution C T intron_variant PRAD-CA 7 43396093 43396093 single base substitution A G intron_variant PRAD-CA 7 43397838 43397838 single base substitution G A intron_variant PRAD-CA 7 43419869 43419869 single base substitution C T intron_variant PRAD-CA 7 43442945 43442945 single base substitution T C intron_variant PRAD-CA 7 43449609 43449609 single base substitution C T downstream_gene_variant PRAD-CA 7 43449609 43449609 single base substitution C T intron_variant PRAD-CA 7 43452041 43452041 single base substitution T C downstream_gene_variant PRAD-CA 7 43452041 43452041 single base substitution T C intron_variant PRAD-CA 7 43473641 43473641 single base substitution T A intron_variant PRAD-CA 7 43519828 43519828 single base substitution G T intron_variant PRAD-CA 7 43527969 43527969 single base substitution G A downstream_gene_variant PRAD-CA 7 43527969 43527969 single base substitution G A intron_variant PRAD-CA 7 43529893 43529893 single base substitution G C intron_variant PRAD-CA 7 43542030 43542030 single base substitution C T intron_variant PRAD-CA 7 43543759 43543759 single base substitution G A intron_variant PRAD-CA 7 43547067 43547067 single base substitution G A intron_variant PRAD-CA 7 43559135 43559135 single base substitution G A intron_variant PRAD-CA 7 43567347 43567347 single base substitution C T intron_variant PRAD-CA 7 43579781 43579781 single base substitution C G intron_variant PRAD-CA 7 43583398 43583398 single base substitution G A downstream_gene_variant PRAD-CA 7 43583398 43583398 single base substitution G A intron_variant PRAD-UK 7 43148818 43148818 single base substitution C T upstream_gene_variant PRAD-UK 7 43157930 43157930 deletion of <=200bp C - intron_variant PRAD-UK 7 43161416 43161416 single base substitution G T intron_variant PRAD-UK 7 43168423 43168423 deletion of <=200bp G - intron_variant PRAD-UK 7 43173011 43173011 single base substitution G A intron_variant PRAD-UK 7 43179022 43179022 single base substitution G A intron_variant PRAD-UK 7 43181339 43181339 single base substitution C G intron_variant PRAD-UK 7 43203517 43203517 single base substitution C A intron_variant PRAD-UK 7 43216185 43216185 single base substitution A G intron_variant PRAD-UK 7 43223863 43223863 single base substitution C T intron_variant PRAD-UK 7 43231849 43231849 single base substitution C T intron_variant PRAD-UK 7 43232990 43232990 insertion of <=200bp - T intron_variant PRAD-UK 7 43232999 43232999 insertion of <=200bp - T intron_variant PRAD-UK 7 43242692 43242692 single base substitution C T intron_variant PRAD-UK 7 43247649 43247649 single base substitution C A intron_variant PRAD-UK 7 43248901 43248901 single base substitution G T intron_variant PRAD-UK 7 43253502 43253502 single base substitution A G intron_variant PRAD-UK 7 43257863 43257863 single base substitution G T intron_variant PRAD-UK 7 43257864 43257864 single base substitution G T intron_variant PRAD-UK 7 43259557 43259557 single base substitution G A intron_variant PRAD-UK 7 43266281 43266281 single base substitution G A intron_variant PRAD-UK 7 43280081 43280081 single base substitution C A intron_variant PRAD-UK 7 43282067 43282067 single base substitution G C intron_variant PRAD-UK 7 43290499 43290499 insertion of <=200bp - GG intron_variant PRAD-UK 7 43311236 43311236 single base substitution A G intron_variant PRAD-UK 7 43312849 43312849 single base substitution G A intron_variant PRAD-UK 7 43313609 43313609 single base substitution G A intron_variant PRAD-UK 7 43326784 43326784 single base substitution G A intron_variant PRAD-UK 7 43328544 43328544 single base substitution G A intron_variant PRAD-UK 7 43331282 43331282 single base substitution T A intron_variant PRAD-UK 7 43346070 43346070 single base substitution T C intron_variant PRAD-UK 7 43348079 43348079 single base substitution G A intron_variant PRAD-UK 7 43348989 43348989 single base substitution G A intron_variant PRAD-UK 7 43356859 43356859 single base substitution C A intron_variant PRAD-UK 7 43362987 43362987 single base substitution G T intron_variant PRAD-UK 7 43379797 43379797 single base substitution A G intron_variant PRAD-UK 7 43393724 43393724 single base substitution A G intron_variant PRAD-UK 7 43413115 43413115 single base substitution T A intron_variant PRAD-UK 7 43413115 43413115 single base substitution T A upstream_gene_variant PRAD-UK 7 43413209 43413209 single base substitution T G intron_variant PRAD-UK 7 43413209 43413209 single base substitution T G upstream_gene_variant PRAD-UK 7 43416413 43416413 single base substitution C T intron_variant PRAD-UK 7 43416413 43416413 single base substitution C T upstream_gene_variant PRAD-UK 7 43421871 43421871 single base substitution C T intron_variant PRAD-UK 7 43425951 43425951 single base substitution C G intron_variant PRAD-UK 7 43434793 43434793 single base substitution G A intron_variant PRAD-UK 7 43434793 43434793 single base substitution G A upstream_gene_variant PRAD-UK 7 43439793 43439793 single base substitution C A intron_variant PRAD-UK 7 43445369 43445369 single base substitution G A intron_variant PRAD-UK 7 43447417 43447417 single base substitution G A downstream_gene_variant PRAD-UK 7 43447417 43447417 single base substitution G A intron_variant PRAD-UK 7 43464859 43464859 single base substitution T G intron_variant PRAD-UK 7 43476284 43476284 single base substitution A C intron_variant PRAD-UK 7 43506125 43506125 single base substitution C T synonymous_variant F923F 2769C>T PRAD-UK 7 43506125 43506125 single base substitution C T synonymous_variant F957F 2871C>T PRAD-UK 7 43515335 43515335 insertion of <=200bp - T intron_variant PRAD-UK 7 43515335 43515335 insertion of <=200bp - T upstream_gene_variant PRAD-UK 7 43527145 43527145 single base substitution C T downstream_gene_variant PRAD-UK 7 43527145 43527145 single base substitution C T intron_variant PRAD-UK 7 43527498 43527498 single base substitution T C downstream_gene_variant PRAD-UK 7 43527498 43527498 single base substitution T C intron_variant PRAD-UK 7 43527848 43527848 single base substitution G A downstream_gene_variant PRAD-UK 7 43527848 43527848 single base substitution G A intron_variant PRAD-UK 7 43529967 43529967 single base substitution A T intron_variant PRAD-UK 7 43553282 43553282 insertion of <=200bp - T intron_variant PRAD-UK 7 43559135 43559135 single base substitution G A intron_variant PRAD-UK 7 43559177 43559177 single base substitution G A intron_variant PRAD-UK 7 43568294 43568294 single base substitution C T intron_variant PRAD-UK 7 43571528 43571528 single base substitution T C intron_variant PRAD-UK 7 43577517 43577517 single base substitution T A intron_variant PRAD-UK 7 43590773 43590773 single base substitution G T intron_variant PRAD-UK 7 43597484 43597484 deletion of <=200bp C - intron_variant PRAD-UK 7 43603778 43603778 single base substitution C G 3_prime_UTR_variant PRAD-UK 7 43603778 43603778 single base substitution C G downstream_gene_variant PRAD-UK 7 43607033 43607033 single base substitution G A downstream_gene_variant PRAD-US 7 43484982 43484982 single base substitution C T downstream_gene_variant PRAD-US 7 43484982 43484982 single base substitution C T synonymous_variant D737D 2211C>T PRAD-US 7 43546798 43546798 single base substitution C T intron_variant PRAD-US 7 43546798 43546798 single base substitution C T missense_variant R1198C 3592C>T PRAD-US 7 43546798 43546798 single base substitution C T missense_variant R1232C 3694C>T READ-US 7 43484983 43484983 single base substitution G A downstream_gene_variant READ-US 7 43484983 43484983 single base substitution G A missense_variant D738N 2212G>A READ-US 7 43485084 43485084 single base substitution C T downstream_gene_variant READ-US 7 43485084 43485084 single base substitution C T synonymous_variant D771D 2313C>T READ-US 7 43485148 43485148 single base substitution G A downstream_gene_variant READ-US 7 43485148 43485148 single base substitution G A missense_variant G793S 2377G>A READ-US 7 43546844 43546844 single base substitution C T intron_variant READ-US 7 43546844 43546844 single base substitution C T missense_variant P1213L 3638C>T READ-US 7 43546844 43546844 single base substitution C T missense_variant P1247L 3740C>T READ-US 7 43547684 43547684 single base substitution G A intron_variant READ-US 7 43547684 43547684 single base substitution G A missense_variant E1240K 3718G>A READ-US 7 43547684 43547684 single base substitution G A missense_variant E1274K 3820G>A READ-US 7 43580778 43580778 single base substitution C T missense_variant R1312C 3934C>T READ-US 7 43580778 43580778 single base substitution C T missense_variant R1346C 4036C>T READ-US 7 43580778 43580778 single base substitution C T missense_variant R69C 205C>T READ-US 7 43581522 43581522 single base substitution G A synonymous_variant L114L 342G>A READ-US 7 43581522 43581522 single base substitution G A synonymous_variant L1357L 4071G>A READ-US 7 43581522 43581522 single base substitution G A synonymous_variant L1391L 4173G>A READ-US 7 43591911 43591911 single base substitution C T missense_variant R1462W 4384C>T READ-US 7 43591911 43591911 single base substitution C T missense_variant R1496W 4486C>T RECA-EU 7 43147293 43147293 single base substitution C G upstream_gene_variant RECA-EU 7 43147396 43147396 single base substitution A G upstream_gene_variant RECA-EU 7 43158532 43158532 single base substitution G T intron_variant RECA-EU 7 43160551 43160551 single base substitution A T intron_variant RECA-EU 7 43162224 43162224 single base substitution A T intron_variant RECA-EU 7 43175391 43175391 single base substitution C T intron_variant RECA-EU 7 43180608 43180608 single base substitution C T intron_variant RECA-EU 7 43186529 43186529 single base substitution C G intron_variant RECA-EU 7 43188392 43188392 single base substitution C T intron_variant RECA-EU 7 43192358 43192358 single base substitution A T intron_variant RECA-EU 7 43194552 43194552 single base substitution A T intron_variant RECA-EU 7 43207017 43207017 single base substitution C A intron_variant RECA-EU 7 43208694 43208694 single base substitution A C intron_variant RECA-EU 7 43210357 43210357 single base substitution T C intron_variant RECA-EU 7 43213544 43213544 single base substitution C A intron_variant RECA-EU 7 43214128 43214128 single base substitution T A intron_variant RECA-EU 7 43223336 43223336 single base substitution G T intron_variant RECA-EU 7 43226367 43226367 single base substitution C G intron_variant RECA-EU 7 43230574 43230574 single base substitution T C intron_variant RECA-EU 7 43232682 43232682 single base substitution A T intron_variant RECA-EU 7 43237286 43237286 single base substitution C T intron_variant RECA-EU 7 43263231 43263231 single base substitution A C intron_variant RECA-EU 7 43268515 43268515 single base substitution C A intron_variant RECA-EU 7 43274412 43274412 single base substitution T C intron_variant RECA-EU 7 43283308 43283308 single base substitution A G intron_variant RECA-EU 7 43283308 43283308 single base substitution A G upstream_gene_variant RECA-EU 7 43299804 43299804 single base substitution C T downstream_gene_variant RECA-EU 7 43299804 43299804 single base substitution C T intron_variant RECA-EU 7 43306090 43306090 single base substitution C A intron_variant RECA-EU 7 43327419 43327419 single base substitution T A intron_variant RECA-EU 7 43328126 43328126 single base substitution G T intron_variant RECA-EU 7 43328862 43328862 single base substitution C T intron_variant RECA-EU 7 43331868 43331868 single base substitution A T intron_variant RECA-EU 7 43343030 43343030 single base substitution C T intron_variant RECA-EU 7 43352544 43352544 single base substitution C T downstream_gene_variant RECA-EU 7 43352544 43352544 single base substitution C T intron_variant RECA-EU 7 43363109 43363109 single base substitution G A intron_variant RECA-EU 7 43375172 43375172 single base substitution A T intron_variant RECA-EU 7 43375602 43375602 single base substitution C T intron_variant RECA-EU 7 43375751 43375751 single base substitution C T intron_variant RECA-EU 7 43377519 43377519 single base substitution A T intron_variant RECA-EU 7 43381422 43381422 single base substitution A G intron_variant RECA-EU 7 43382901 43382901 single base substitution G C intron_variant RECA-EU 7 43387348 43387348 single base substitution A T intron_variant RECA-EU 7 43391101 43391101 single base substitution G A intron_variant RECA-EU 7 43395962 43395962 single base substitution C A intron_variant RECA-EU 7 43400549 43400549 single base substitution C T exon_variant RECA-EU 7 43400549 43400549 single base substitution C T synonymous_variant P175P 525C>T RECA-EU 7 43404084 43404084 single base substitution C T intron_variant RECA-EU 7 43406139 43406139 single base substitution A T intron_variant RECA-EU 7 43407501 43407501 single base substitution C G intron_variant RECA-EU 7 43411131 43411131 single base substitution A T intron_variant RECA-EU 7 43413416 43413416 single base substitution G A intron_variant RECA-EU 7 43413416 43413416 single base substitution G A upstream_gene_variant RECA-EU 7 43417127 43417127 single base substitution G T intron_variant RECA-EU 7 43417127 43417127 single base substitution G T upstream_gene_variant RECA-EU 7 43426356 43426356 single base substitution G T intron_variant RECA-EU 7 43438849 43438849 single base substitution G A intron_variant RECA-EU 7 43442964 43442964 single base substitution G C intron_variant RECA-EU 7 43446939 43446939 single base substitution C A intron_variant RECA-EU 7 43465248 43465248 single base substitution A C intron_variant RECA-EU 7 43475270 43475270 single base substitution A T intron_variant RECA-EU 7 43478260 43478260 single base substitution A T exon_variant RECA-EU 7 43478260 43478260 single base substitution A T intron_variant RECA-EU 7 43478642 43478642 single base substitution C T downstream_gene_variant RECA-EU 7 43478642 43478642 single base substitution C T exon_variant RECA-EU 7 43478642 43478642 single base substitution C T intron_variant RECA-EU 7 43479705 43479705 single base substitution G T downstream_gene_variant RECA-EU 7 43479705 43479705 single base substitution G T exon_variant RECA-EU 7 43479705 43479705 single base substitution G T intron_variant RECA-EU 7 43485407 43485407 single base substitution G A intron_variant RECA-EU 7 43486282 43486282 single base substitution A T intron_variant RECA-EU 7 43505896 43505896 single base substitution T A intron_variant RECA-EU 7 43506794 43506794 single base substitution T C intron_variant RECA-EU 7 43508778 43508778 single base substitution G C intron_variant RECA-EU 7 43525885 43525885 single base substitution G C downstream_gene_variant RECA-EU 7 43525885 43525885 single base substitution G C intron_variant RECA-EU 7 43533268 43533268 single base substitution G T intron_variant RECA-EU 7 43536211 43536211 single base substitution G A intron_variant RECA-EU 7 43556051 43556051 single base substitution A T intron_variant RECA-EU 7 43562161 43562161 single base substitution G A intron_variant RECA-EU 7 43565036 43565036 single base substitution C G intron_variant RECA-EU 7 43565905 43565905 single base substitution T A intron_variant RECA-EU 7 43585237 43585237 single base substitution A G downstream_gene_variant RECA-EU 7 43585237 43585237 single base substitution A G intron_variant RECA-EU 7 43586159 43586159 single base substitution G T downstream_gene_variant RECA-EU 7 43586159 43586159 single base substitution G T intron_variant RECA-EU 7 43587996 43587996 single base substitution C T intron_variant RECA-EU 7 43588976 43588976 single base substitution T G intron_variant RECA-EU 7 43592972 43592972 single base substitution A T intron_variant RECA-EU 7 43606776 43606776 single base substitution T G downstream_gene_variant RECA-EU 7 43609909 43609909 single base substitution T C downstream_gene_variant SKCA-BR 7 43148500 43148500 single base substitution C G upstream_gene_variant SKCA-BR 7 43148600 43148600 single base substitution C T upstream_gene_variant SKCA-BR 7 43148854 43148854 single base substitution G A upstream_gene_variant SKCA-BR 7 43149918 43149918 single base substitution C T upstream_gene_variant SKCA-BR 7 43149997 43149997 single base substitution G A upstream_gene_variant SKCA-BR 7 43151743 43151743 single base substitution T C upstream_gene_variant SKCA-BR 7 43152602 43152602 single base substitution T C intron_variant SKCA-BR 7 43152602 43152602 single base substitution T C upstream_gene_variant SKCA-BR 7 43152641 43152641 single base substitution T C intron_variant SKCA-BR 7 43152641 43152641 single base substitution T C upstream_gene_variant SKCA-BR 7 43153270 43153270 single base substitution A G intron_variant SKCA-BR 7 43153270 43153270 single base substitution A G upstream_gene_variant SKCA-BR 7 43153280 43153280 single base substitution A G intron_variant SKCA-BR 7 43153280 43153280 single base substitution A G upstream_gene_variant SKCA-BR 7 43154679 43154679 single base substitution T G intron_variant SKCA-BR 7 43155625 43155625 single base substitution A G intron_variant SKCA-BR 7 43155915 43155915 single base substitution G A intron_variant SKCA-BR 7 43156980 43156980 single base substitution T C intron_variant SKCA-BR 7 43157020 43157020 single base substitution A C intron_variant SKCA-BR 7 43157755 43157755 single base substitution A T intron_variant SKCA-BR 7 43158049 43158049 single base substitution T C intron_variant SKCA-BR 7 43158237 43158237 single base substitution C T intron_variant SKCA-BR 7 43158514 43158514 single base substitution C T intron_variant SKCA-BR 7 43160609 43160609 single base substitution G A intron_variant SKCA-BR 7 43161098 43161098 single base substitution C T intron_variant SKCA-BR 7 43161324 43161324 single base substitution G A intron_variant SKCA-BR 7 43161406 43161406 single base substitution C T intron_variant SKCA-BR 7 43161531 43161531 single base substitution G A intron_variant SKCA-BR 7 43162652 43162652 single base substitution C T intron_variant SKCA-BR 7 43163055 43163055 single base substitution C A intron_variant SKCA-BR 7 43164287 43164287 single base substitution G A intron_variant SKCA-BR 7 43164521 43164521 single base substitution G A intron_variant SKCA-BR 7 43165666 43165666 insertion of <=200bp - CTT intron_variant SKCA-BR 7 43166270 43166270 single base substitution C T intron_variant SKCA-BR 7 43166712 43166712 single base substitution G A intron_variant SKCA-BR 7 43167736 43167736 single base substitution C T intron_variant SKCA-BR 7 43169462 43169462 single base substitution C T intron_variant SKCA-BR 7 43171596 43171596 single base substitution G A intron_variant SKCA-BR 7 43171656 43171656 single base substitution C T intron_variant SKCA-BR 7 43171695 43171695 single base substitution C T intron_variant SKCA-BR 7 43172646 43172646 single base substitution G A intron_variant SKCA-BR 7 43172678 43172678 single base substitution C T intron_variant SKCA-BR 7 43173181 43173181 single base substitution C T intron_variant SKCA-BR 7 43175020 43175020 single base substitution A C intron_variant SKCA-BR 7 43175030 43175030 single base substitution G A intron_variant SKCA-BR 7 43175443 43175443 single base substitution C T intron_variant SKCA-BR 7 43177126 43177126 insertion of <=200bp - CATTTATTTATTT intron_variant SKCA-BR 7 43178350 43178350 single base substitution G A intron_variant SKCA-BR 7 43179633 43179633 single base substitution C T intron_variant SKCA-BR 7 43180034 43180034 single base substitution C T intron_variant SKCA-BR 7 43180260 43180260 single base substitution G A intron_variant SKCA-BR 7 43181020 43181020 single base substitution T C intron_variant SKCA-BR 7 43181182 43181182 single base substitution C T intron_variant SKCA-BR 7 43182973 43182973 single base substitution C T intron_variant SKCA-BR 7 43183049 43183050 deletion of <=200bp AT - intron_variant SKCA-BR 7 43183052 43183052 single base substitution T A intron_variant SKCA-BR 7 43183372 43183372 single base substitution G C intron_variant SKCA-BR 7 43184083 43184083 single base substitution G A intron_variant SKCA-BR 7 43185243 43185243 single base substitution G A intron_variant SKCA-BR 7 43185762 43185762 single base substitution C T intron_variant SKCA-BR 7 43185875 43185875 single base substitution G A intron_variant SKCA-BR 7 43186250 43186250 single base substitution C T intron_variant SKCA-BR 7 43186716 43186716 single base substitution G A intron_variant SKCA-BR 7 43187054 43187054 single base substitution G A intron_variant SKCA-BR 7 43187130 43187130 single base substitution G A intron_variant SKCA-BR 7 43188186 43188186 single base substitution G A intron_variant SKCA-BR 7 43189759 43189759 single base substitution T A intron_variant SKCA-BR 7 43190561 43190561 single base substitution G A intron_variant SKCA-BR 7 43191561 43191561 single base substitution A G intron_variant SKCA-BR 7 43191886 43191886 single base substitution G A intron_variant SKCA-BR 7 43192913 43192913 single base substitution G A intron_variant SKCA-BR 7 43192939 43192939 single base substitution C T intron_variant SKCA-BR 7 43194269 43194269 single base substitution C T intron_variant SKCA-BR 7 43194454 43194454 single base substitution C T intron_variant SKCA-BR 7 43194588 43194588 single base substitution G A intron_variant SKCA-BR 7 43194682 43194682 single base substitution C A intron_variant SKCA-BR 7 43194969 43194969 single base substitution G A intron_variant SKCA-BR 7 43195068 43195068 single base substitution G A intron_variant SKCA-BR 7 43196060 43196060 single base substitution G A intron_variant SKCA-BR 7 43196931 43196931 single base substitution C T intron_variant SKCA-BR 7 43196943 43196943 single base substitution T A intron_variant SKCA-BR 7 43198072 43198072 single base substitution C T intron_variant SKCA-BR 7 43198947 43198947 single base substitution G C intron_variant SKCA-BR 7 43198978 43198978 single base substitution T C intron_variant SKCA-BR 7 43199370 43199370 single base substitution C T intron_variant SKCA-BR 7 43199758 43199758 single base substitution G A intron_variant SKCA-BR 7 43201123 43201123 single base substitution C T intron_variant SKCA-BR 7 43201384 43201384 single base substitution C T intron_variant SKCA-BR 7 43203555 43203555 single base substitution G A intron_variant SKCA-BR 7 43205003 43205003 single base substitution G A intron_variant SKCA-BR 7 43206173 43206173 single base substitution A G intron_variant SKCA-BR 7 43207211 43207211 single base substitution A G intron_variant SKCA-BR 7 43209543 43209543 single base substitution G A intron_variant SKCA-BR 7 43209657 43209657 single base substitution C T intron_variant SKCA-BR 7 43210429 43210429 single base substitution G A intron_variant SKCA-BR 7 43211651 43211651 single base substitution T G intron_variant SKCA-BR 7 43211959 43211959 single base substitution A C intron_variant SKCA-BR 7 43212744 43212744 single base substitution A T intron_variant SKCA-BR 7 43213150 43213150 single base substitution C T intron_variant SKCA-BR 7 43213501 43213501 single base substitution T G intron_variant SKCA-BR 7 43213665 43213665 single base substitution C T intron_variant SKCA-BR 7 43213823 43213823 single base substitution C T intron_variant SKCA-BR 7 43213877 43213877 single base substitution G A intron_variant SKCA-BR 7 43214261 43214261 single base substitution C T intron_variant SKCA-BR 7 43214309 43214309 single base substitution G A intron_variant SKCA-BR 7 43214320 43214320 single base substitution C T intron_variant SKCA-BR 7 43215761 43215761 single base substitution T G intron_variant SKCA-BR 7 43216046 43216046 single base substitution C T intron_variant SKCA-BR 7 43216222 43216222 single base substitution A G intron_variant SKCA-BR 7 43216998 43216998 single base substitution C T intron_variant SKCA-BR 7 43218381 43218381 single base substitution G A intron_variant SKCA-BR 7 43218611 43218611 single base substitution G A intron_variant SKCA-BR 7 43219153 43219153 insertion of <=200bp - TTTGTTG intron_variant SKCA-BR 7 43220237 43220237 single base substitution A C intron_variant SKCA-BR 7 43221849 43221849 single base substitution C T intron_variant SKCA-BR 7 43221851 43221851 single base substitution C A intron_variant SKCA-BR 7 43224750 43224750 single base substitution G A intron_variant SKCA-BR 7 43224911 43224911 single base substitution C T intron_variant SKCA-BR 7 43225696 43225696 single base substitution T A intron_variant SKCA-BR 7 43225710 43225710 single base substitution C T intron_variant SKCA-BR 7 43226664 43226664 single base substitution G C intron_variant SKCA-BR 7 43226749 43226749 single base substitution C G intron_variant SKCA-BR 7 43227153 43227153 single base substitution C T intron_variant SKCA-BR 7 43227205 43227205 single base substitution G A intron_variant SKCA-BR 7 43228198 43228198 single base substitution C T intron_variant SKCA-BR 7 43228378 43228378 single base substitution C T intron_variant SKCA-BR 7 43229780 43229780 single base substitution T G intron_variant SKCA-BR 7 43230095 43230095 single base substitution G A intron_variant SKCA-BR 7 43231563 43231563 insertion of <=200bp - CT intron_variant SKCA-BR 7 43232412 43232412 single base substitution G A intron_variant SKCA-BR 7 43232536 43232536 single base substitution C T intron_variant SKCA-BR 7 43233560 43233560 single base substitution G A intron_variant SKCA-BR 7 43234296 43234296 insertion of <=200bp - CT intron_variant SKCA-BR 7 43234388 43234388 single base substitution G A intron_variant SKCA-BR 7 43234715 43234715 single base substitution C T intron_variant SKCA-BR 7 43238222 43238222 single base substitution A C intron_variant SKCA-BR 7 43238368 43238368 single base substitution T A intron_variant SKCA-BR 7 43240098 43240098 single base substitution C A intron_variant SKCA-BR 7 43240518 43240518 single base substitution G A intron_variant SKCA-BR 7 43240687 43240687 single base substitution G A intron_variant SKCA-BR 7 43240767 43240767 single base substitution C T intron_variant SKCA-BR 7 43241395 43241395 single base substitution G A intron_variant SKCA-BR 7 43241474 43241474 single base substitution G A intron_variant SKCA-BR 7 43241890 43241890 single base substitution C T intron_variant SKCA-BR 7 43242454 43242454 single base substitution C T intron_variant SKCA-BR 7 43242496 43242496 single base substitution C T intron_variant SKCA-BR 7 43245567 43245567 single base substitution C T intron_variant SKCA-BR 7 43245569 43245569 single base substitution T C intron_variant SKCA-BR 7 43245583 43245583 single base substitution A C intron_variant SKCA-BR 7 43246280 43246280 single base substitution C T intron_variant SKCA-BR 7 43246755 43246755 single base substitution C T intron_variant SKCA-BR 7 43247487 43247487 single base substitution C T intron_variant SKCA-BR 7 43247648 43247648 single base substitution C T intron_variant SKCA-BR 7 43247979 43247979 single base substitution C T intron_variant SKCA-BR 7 43248340 43248340 single base substitution G A intron_variant SKCA-BR 7 43248950 43248950 single base substitution G A intron_variant SKCA-BR 7 43249341 43249341 single base substitution G A intron_variant SKCA-BR 7 43249799 43249799 single base substitution G A intron_variant SKCA-BR 7 43250461 43250461 single base substitution G A intron_variant SKCA-BR 7 43250604 43250604 single base substitution G A intron_variant SKCA-BR 7 43250672 43250672 single base substitution C T intron_variant SKCA-BR 7 43251905 43251905 single base substitution C G intron_variant SKCA-BR 7 43252375 43252375 single base substitution T A intron_variant SKCA-BR 7 43252840 43252840 single base substitution C T intron_variant SKCA-BR 7 43253038 43253039 deletion of <=200bp AT - intron_variant SKCA-BR 7 43253799 43253799 single base substitution C T intron_variant SKCA-BR 7 43253937 43253937 single base substitution G A intron_variant SKCA-BR 7 43254433 43254433 single base substitution A G intron_variant SKCA-BR 7 43255053 43255053 single base substitution G A intron_variant SKCA-BR 7 43255295 43255295 single base substitution C T intron_variant SKCA-BR 7 43256466 43256466 single base substitution C T intron_variant SKCA-BR 7 43256524 43256524 single base substitution G A intron_variant SKCA-BR 7 43257485 43257485 single base substitution C T intron_variant SKCA-BR 7 43257578 43257578 single base substitution G T intron_variant SKCA-BR 7 43257776 43257776 single base substitution C T intron_variant SKCA-BR 7 43257824 43257824 single base substitution G A intron_variant SKCA-BR 7 43260791 43260791 single base substitution G A intron_variant SKCA-BR 7 43261135 43261135 single base substitution G A intron_variant SKCA-BR 7 43261149 43261149 single base substitution T G intron_variant SKCA-BR 7 43262722 43262722 single base substitution C T intron_variant SKCA-BR 7 43263132 43263132 single base substitution C T intron_variant SKCA-BR 7 43264356 43264356 single base substitution G A intron_variant SKCA-BR 7 43264410 43264410 single base substitution G A intron_variant SKCA-BR 7 43264518 43264518 single base substitution G A intron_variant SKCA-BR 7 43264696 43264696 single base substitution G A intron_variant SKCA-BR 7 43265905 43265905 single base substitution C T intron_variant SKCA-BR 7 43267760 43267760 single base substitution C A intron_variant SKCA-BR 7 43269310 43269310 single base substitution G A intron_variant SKCA-BR 7 43270373 43270373 single base substitution G A intron_variant SKCA-BR 7 43270492 43270497 deletion of <=200bp ATAAAT - intron_variant SKCA-BR 7 43271494 43271494 single base substitution G A intron_variant SKCA-BR 7 43274134 43274134 single base substitution C T intron_variant SKCA-BR 7 43274439 43274439 single base substitution A G intron_variant SKCA-BR 7 43275445 43275445 single base substitution G A intron_variant SKCA-BR 7 43276735 43276755 deletion of <=200bp AGGAAGTAGGTAGGTAGGTAG - intron_variant SKCA-BR 7 43277413 43277413 single base substitution A T intron_variant SKCA-BR 7 43277431 43277432 deletion of <=200bp TC - intron_variant SKCA-BR 7 43277435 43277435 single base substitution C T intron_variant SKCA-BR 7 43277438 43277438 single base substitution C A intron_variant SKCA-BR 7 43277439 43277439 single base substitution G A intron_variant SKCA-BR 7 43277672 43277672 single base substitution G A intron_variant SKCA-BR 7 43278281 43278281 single base substitution G A intron_variant SKCA-BR 7 43280149 43280149 single base substitution A C intron_variant SKCA-BR 7 43280891 43280891 single base substitution C T intron_variant SKCA-BR 7 43280923 43280923 single base substitution G A intron_variant SKCA-BR 7 43281211 43281219 deletion of <=200bp ATGTATGTG - intron_variant SKCA-BR 7 43282416 43282416 single base substitution A G intron_variant SKCA-BR 7 43283211 43283211 single base substitution C T intron_variant SKCA-BR 7 43283211 43283211 single base substitution C T upstream_gene_variant SKCA-BR 7 43284241 43284241 single base substitution T C intron_variant SKCA-BR 7 43284241 43284241 single base substitution T C upstream_gene_variant SKCA-BR 7 43284539 43284539 single base substitution G A intron_variant SKCA-BR 7 43284539 43284539 single base substitution G A upstream_gene_variant SKCA-BR 7 43285171 43285171 single base substitution C T intron_variant SKCA-BR 7 43285171 43285171 single base substitution C T upstream_gene_variant SKCA-BR 7 43287441 43287441 single base substitution G A intron_variant SKCA-BR 7 43287441 43287441 single base substitution G A upstream_gene_variant SKCA-BR 7 43287532 43287534 deletion of <=200bp AAG - intron_variant SKCA-BR 7 43287532 43287534 deletion of <=200bp AAG - upstream_gene_variant SKCA-BR 7 43287659 43287659 single base substitution G A intron_variant SKCA-BR 7 43287659 43287659 single base substitution G A upstream_gene_variant SKCA-BR 7 43287992 43287992 single base substitution A C intron_variant SKCA-BR 7 43287992 43287992 single base substitution A C upstream_gene_variant SKCA-BR 7 43289177 43289177 single base substitution G T intron_variant SKCA-BR 7 43290372 43290372 single base substitution G A intron_variant SKCA-BR 7 43291985 43291985 single base substitution C T intron_variant SKCA-BR 7 43292401 43292401 single base substitution G A intron_variant SKCA-BR 7 43292769 43292769 single base substitution C T intron_variant SKCA-BR 7 43293379 43293379 single base substitution T G intron_variant SKCA-BR 7 43294231 43294231 single base substitution C T intron_variant SKCA-BR 7 43294485 43294485 single base substitution G A intron_variant SKCA-BR 7 43294840 43294840 single base substitution T A intron_variant SKCA-BR 7 43297161 43297161 single base substitution G A intron_variant SKCA-BR 7 43298064 43298064 single base substitution C T intron_variant SKCA-BR 7 43298093 43298093 single base substitution G A intron_variant SKCA-BR 7 43298590 43298590 single base substitution G A downstream_gene_variant SKCA-BR 7 43298590 43298590 single base substitution G A intron_variant SKCA-BR 7 43298969 43298969 single base substitution G A downstream_gene_variant SKCA-BR 7 43298969 43298969 single base substitution G A intron_variant SKCA-BR 7 43300063 43300063 single base substitution G A downstream_gene_variant SKCA-BR 7 43300063 43300063 single base substitution G A intron_variant SKCA-BR 7 43300722 43300722 single base substitution G A downstream_gene_variant SKCA-BR 7 43300722 43300722 single base substitution G A intron_variant SKCA-BR 7 43301686 43301686 single base substitution G A downstream_gene_variant SKCA-BR 7 43301686 43301686 single base substitution G A intron_variant SKCA-BR 7 43301714 43301714 single base substitution G A downstream_gene_variant SKCA-BR 7 43301714 43301714 single base substitution G A intron_variant SKCA-BR 7 43301846 43301846 insertion of <=200bp - CGTGTGTGTGT downstream_gene_variant SKCA-BR 7 43301846 43301846 insertion of <=200bp - CGTGTGTGTGTGT downstream_gene_variant SKCA-BR 7 43301846 43301846 insertion of <=200bp - CGTGTGTGTGTGT intron_variant SKCA-BR 7 43301846 43301846 insertion of <=200bp - CGTGTGTGTGT intron_variant SKCA-BR 7 43304949 43304949 single base substitution A G intron_variant SKCA-BR 7 43305929 43305929 single base substitution T G intron_variant SKCA-BR 7 43307008 43307008 single base substitution T C intron_variant SKCA-BR 7 43309002 43309002 single base substitution G A intron_variant SKCA-BR 7 43309711 43309711 single base substitution T C intron_variant SKCA-BR 7 43310880 43310880 single base substitution A T intron_variant SKCA-BR 7 43311643 43311643 single base substitution C T intron_variant SKCA-BR 7 43313277 43313277 single base substitution G A intron_variant SKCA-BR 7 43313642 43313642 single base substitution G T intron_variant SKCA-BR 7 43314440 43314440 single base substitution A C intron_variant SKCA-BR 7 43315232 43315232 single base substitution G A intron_variant SKCA-BR 7 43316236 43316236 single base substitution A T intron_variant SKCA-BR 7 43316909 43316909 single base substitution C T intron_variant SKCA-BR 7 43317358 43317358 single base substitution T A intron_variant SKCA-BR 7 43317428 43317428 single base substitution C T intron_variant SKCA-BR 7 43317890 43317890 single base substitution C T intron_variant SKCA-BR 7 43319234 43319234 single base substitution C T intron_variant SKCA-BR 7 43319387 43319387 single base substitution C T intron_variant SKCA-BR 7 43320161 43320161 single base substitution G A intron_variant SKCA-BR 7 43321003 43321003 single base substitution C T intron_variant SKCA-BR 7 43321205 43321205 single base substitution C T intron_variant SKCA-BR 7 43321312 43321313 deletion of <=200bp CT - intron_variant SKCA-BR 7 43321836 43321836 single base substitution T G intron_variant SKCA-BR 7 43321957 43321957 single base substitution C T intron_variant SKCA-BR 7 43322426 43322426 single base substitution C T intron_variant SKCA-BR 7 43324101 43324101 single base substitution C A intron_variant SKCA-BR 7 43324155 43324155 single base substitution G A intron_variant SKCA-BR 7 43326082 43326082 single base substitution G A intron_variant SKCA-BR 7 43326307 43326307 single base substitution C T intron_variant SKCA-BR 7 43326739 43326739 single base substitution T C intron_variant SKCA-BR 7 43328964 43328964 single base substitution A G intron_variant SKCA-BR 7 43329236 43329236 single base substitution C T intron_variant SKCA-BR 7 43329237 43329237 single base substitution T C intron_variant SKCA-BR 7 43331230 43331230 single base substitution G A intron_variant SKCA-BR 7 43333992 43333992 single base substitution G A intron_variant SKCA-BR 7 43334598 43334598 single base substitution G T intron_variant SKCA-BR 7 43335291 43335291 single base substitution C T intron_variant SKCA-BR 7 43337506 43337506 single base substitution G A intron_variant SKCA-BR 7 43338892 43338892 single base substitution G A intron_variant SKCA-BR 7 43339316 43339316 single base substitution C T intron_variant SKCA-BR 7 43340095 43340095 single base substitution G A intron_variant SKCA-BR 7 43342348 43342348 single base substitution C T intron_variant SKCA-BR 7 43342808 43342808 single base substitution G A intron_variant SKCA-BR 7 43342832 43342832 single base substitution A C intron_variant SKCA-BR 7 43343283 43343283 single base substitution G A intron_variant SKCA-BR 7 43343785 43343785 single base substitution G A intron_variant SKCA-BR 7 43344082 43344082 single base substitution T A intron_variant SKCA-BR 7 43344083 43344083 single base substitution T C intron_variant SKCA-BR 7 43344318 43344318 single base substitution C T intron_variant SKCA-BR 7 43346833 43346833 single base substitution G A intron_variant SKCA-BR 7 43347494 43347494 single base substitution T C intron_variant SKCA-BR 7 43347498 43347498 single base substitution C T intron_variant SKCA-BR 7 43347880 43347880 single base substitution G A intron_variant SKCA-BR 7 43349880 43349880 single base substitution G A intron_variant SKCA-BR 7 43350813 43350813 single base substitution C T intron_variant SKCA-BR 7 43351056 43351056 single base substitution C A intron_variant SKCA-BR 7 43353059 43353059 single base substitution C T downstream_gene_variant SKCA-BR 7 43353059 43353059 single base substitution C T intron_variant SKCA-BR 7 43353667 43353667 single base substitution C G downstream_gene_variant SKCA-BR 7 43353667 43353667 single base substitution C G intron_variant SKCA-BR 7 43355064 43355073 deletion of <=200bp GTTATTATTA - downstream_gene_variant SKCA-BR 7 43355064 43355073 deletion of <=200bp GTTATTATTA - intron_variant SKCA-BR 7 43356385 43356385 insertion of <=200bp - TCCCC downstream_gene_variant SKCA-BR 7 43356385 43356385 insertion of <=200bp - TCCCC intron_variant SKCA-BR 7 43356387 43356388 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 7 43356387 43356388 deletion of <=200bp CT - intron_variant SKCA-BR 7 43356390 43356390 single base substitution T C downstream_gene_variant SKCA-BR 7 43356390 43356390 single base substitution T C intron_variant SKCA-BR 7 43356475 43356475 single base substitution C A downstream_gene_variant SKCA-BR 7 43356475 43356475 single base substitution C A intron_variant SKCA-BR 7 43357108 43357108 single base substitution C T intron_variant SKCA-BR 7 43357718 43357718 single base substitution G A intron_variant SKCA-BR 7 43358034 43358034 single base substitution G A intron_variant SKCA-BR 7 43359968 43359968 single base substitution T C intron_variant SKCA-BR 7 43360102 43360102 single base substitution C T intron_variant SKCA-BR 7 43360272 43360272 single base substitution C T exon_variant SKCA-BR 7 43360272 43360272 single base substitution C T missense_variant R131C 391C>T SKCA-BR 7 43360976 43360976 single base substitution G A intron_variant SKCA-BR 7 43361966 43361966 single base substitution C T intron_variant SKCA-BR 7 43362271 43362271 single base substitution G A intron_variant SKCA-BR 7 43362511 43362511 single base substitution C T intron_variant SKCA-BR 7 43362592 43362592 single base substitution C T intron_variant SKCA-BR 7 43363726 43363726 single base substitution G A intron_variant SKCA-BR 7 43366784 43366794 deletion of <=200bp AACCCCACCTG - intron_variant SKCA-BR 7 43366794 43366794 single base substitution G A intron_variant SKCA-BR 7 43366814 43366814 single base substitution C T intron_variant SKCA-BR 7 43366844 43366844 single base substitution G A intron_variant SKCA-BR 7 43367218 43367218 single base substitution C T intron_variant SKCA-BR 7 43367381 43367381 single base substitution C G intron_variant SKCA-BR 7 43368060 43368060 single base substitution C T intron_variant SKCA-BR 7 43369731 43369731 single base substitution T C intron_variant SKCA-BR 7 43370717 43370717 single base substitution G A intron_variant SKCA-BR 7 43374653 43374653 single base substitution G A intron_variant SKCA-BR 7 43375315 43375315 single base substitution C T intron_variant SKCA-BR 7 43375386 43375386 single base substitution C T intron_variant SKCA-BR 7 43375451 43375451 single base substitution C T intron_variant SKCA-BR 7 43375510 43375510 insertion of <=200bp - CTT intron_variant SKCA-BR 7 43375733 43375743 deletion of <=200bp CTCTCTCTCTT - intron_variant SKCA-BR 7 43375759 43375759 single base substitution C T intron_variant SKCA-BR 7 43375834 43375834 single base substitution G A intron_variant SKCA-BR 7 43376877 43376877 single base substitution C T intron_variant SKCA-BR 7 43377197 43377197 single base substitution T G intron_variant SKCA-BR 7 43378422 43378423 deletion of <=200bp TA - intron_variant SKCA-BR 7 43378873 43378873 single base substitution C T intron_variant SKCA-BR 7 43378986 43378986 single base substitution C T intron_variant SKCA-BR 7 43379568 43379568 single base substitution G A intron_variant SKCA-BR 7 43380774 43380774 single base substitution G A intron_variant SKCA-BR 7 43383028 43383028 single base substitution C T intron_variant SKCA-BR 7 43383447 43383447 single base substitution G A intron_variant SKCA-BR 7 43386433 43386433 single base substitution C T intron_variant SKCA-BR 7 43386480 43386480 single base substitution T C intron_variant SKCA-BR 7 43386594 43386594 single base substitution G A intron_variant SKCA-BR 7 43388104 43388104 single base substitution C T intron_variant SKCA-BR 7 43388287 43388287 single base substitution C T intron_variant SKCA-BR 7 43388616 43388616 single base substitution C T intron_variant SKCA-BR 7 43388836 43388836 single base substitution T C intron_variant SKCA-BR 7 43389425 43389425 single base substitution G A intron_variant SKCA-BR 7 43389708 43389708 single base substitution C T intron_variant SKCA-BR 7 43392237 43392237 single base substitution C T intron_variant SKCA-BR 7 43393018 43393018 single base substitution C T intron_variant SKCA-BR 7 43393272 43393272 single base substitution T A intron_variant SKCA-BR 7 43393916 43393916 single base substitution G A intron_variant SKCA-BR 7 43395394 43395394 single base substitution C T intron_variant SKCA-BR 7 43397100 43397100 single base substitution G A intron_variant SKCA-BR 7 43397441 43397441 single base substitution G A intron_variant SKCA-BR 7 43398997 43398997 single base substitution C T intron_variant SKCA-BR 7 43399172 43399172 single base substitution C T intron_variant SKCA-BR 7 43399558 43399558 single base substitution G A intron_variant SKCA-BR 7 43399702 43399702 single base substitution G A intron_variant SKCA-BR 7 43399773 43399773 single base substitution C T intron_variant SKCA-BR 7 43399814 43399814 insertion of <=200bp - CT intron_variant SKCA-BR 7 43400063 43400063 single base substitution C T intron_variant SKCA-BR 7 43400504 43400504 single base substitution C T exon_variant SKCA-BR 7 43400504 43400504 single base substitution C T synonymous_variant F160F 480C>T SKCA-BR 7 43400636 43400636 single base substitution C T intron_variant SKCA-BR 7 43400637 43400637 single base substitution T A intron_variant SKCA-BR 7 43400660 43400660 single base substitution T C intron_variant SKCA-BR 7 43401414 43401415 deletion of <=200bp CT - intron_variant SKCA-BR 7 43401932 43401932 single base substitution C T intron_variant SKCA-BR 7 43403182 43403182 single base substitution G A intron_variant SKCA-BR 7 43403303 43403303 single base substitution T G intron_variant SKCA-BR 7 43403453 43403453 single base substitution G A intron_variant SKCA-BR 7 43405281 43405281 single base substitution T C intron_variant SKCA-BR 7 43408537 43408537 single base substitution G A intron_variant SKCA-BR 7 43411613 43411613 single base substitution A G intron_variant SKCA-BR 7 43412131 43412131 single base substitution C T intron_variant SKCA-BR 7 43413002 43413002 single base substitution C T intron_variant SKCA-BR 7 43413002 43413002 single base substitution C T upstream_gene_variant SKCA-BR 7 43413185 43413185 single base substitution T G intron_variant SKCA-BR 7 43413185 43413185 single base substitution T G upstream_gene_variant SKCA-BR 7 43413215 43413215 single base substitution A T intron_variant SKCA-BR 7 43413215 43413215 single base substitution A T upstream_gene_variant SKCA-BR 7 43413263 43413263 single base substitution C T intron_variant SKCA-BR 7 43413263 43413263 single base substitution C T upstream_gene_variant SKCA-BR 7 43413421 43413421 single base substitution C A intron_variant SKCA-BR 7 43413421 43413421 single base substitution C A upstream_gene_variant SKCA-BR 7 43414033 43414033 single base substitution A C intron_variant SKCA-BR 7 43414033 43414033 single base substitution A C upstream_gene_variant SKCA-BR 7 43414398 43414398 single base substitution A C intron_variant SKCA-BR 7 43414398 43414398 single base substitution A C upstream_gene_variant SKCA-BR 7 43414721 43414721 single base substitution G A intron_variant SKCA-BR 7 43414721 43414721 single base substitution G A upstream_gene_variant SKCA-BR 7 43415252 43415252 single base substitution G A intron_variant SKCA-BR 7 43415252 43415252 single base substitution G A upstream_gene_variant SKCA-BR 7 43415489 43415489 insertion of <=200bp - CA intron_variant SKCA-BR 7 43415489 43415489 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 7 43417946 43417946 single base substitution G A intron_variant SKCA-BR 7 43418380 43418380 single base substitution G T intron_variant SKCA-BR 7 43418436 43418436 single base substitution A G intron_variant SKCA-BR 7 43419253 43419253 single base substitution G A intron_variant SKCA-BR 7 43419343 43419343 single base substitution C T intron_variant SKCA-BR 7 43420974 43420974 single base substitution G A intron_variant SKCA-BR 7 43421205 43421205 single base substitution C T intron_variant SKCA-BR 7 43422353 43422353 single base substitution G A intron_variant SKCA-BR 7 43422700 43422700 single base substitution G A intron_variant SKCA-BR 7 43424045 43424045 single base substitution G A intron_variant SKCA-BR 7 43424082 43424082 single base substitution G A intron_variant SKCA-BR 7 43424464 43424464 single base substitution C T intron_variant SKCA-BR 7 43424531 43424531 single base substitution C T intron_variant SKCA-BR 7 43425515 43425515 single base substitution A T intron_variant SKCA-BR 7 43425805 43425805 single base substitution A G intron_variant SKCA-BR 7 43426265 43426265 single base substitution C T intron_variant SKCA-BR 7 43426496 43426496 single base substitution G A intron_variant SKCA-BR 7 43427763 43427763 single base substitution A C intron_variant SKCA-BR 7 43430408 43430408 single base substitution G A intron_variant SKCA-BR 7 43430664 43430664 single base substitution G A intron_variant SKCA-BR 7 43430697 43430697 single base substitution C T intron_variant SKCA-BR 7 43430745 43430745 single base substitution G A intron_variant SKCA-BR 7 43430896 43430896 single base substitution C T intron_variant SKCA-BR 7 43431783 43431783 single base substitution G A intron_variant SKCA-BR 7 43431783 43431783 single base substitution G A upstream_gene_variant SKCA-BR 7 43431856 43431856 single base substitution G A intron_variant SKCA-BR 7 43431856 43431856 single base substitution G A upstream_gene_variant SKCA-BR 7 43431884 43431884 single base substitution A T intron_variant SKCA-BR 7 43431884 43431884 single base substitution A T upstream_gene_variant SKCA-BR 7 43432163 43432163 single base substitution C T intron_variant SKCA-BR 7 43432163 43432163 single base substitution C T upstream_gene_variant SKCA-BR 7 43433892 43433892 single base substitution T C intron_variant SKCA-BR 7 43433892 43433892 single base substitution T C upstream_gene_variant SKCA-BR 7 43435191 43435191 single base substitution C T intron_variant SKCA-BR 7 43435191 43435191 single base substitution C T upstream_gene_variant SKCA-BR 7 43435192 43435192 single base substitution C T intron_variant SKCA-BR 7 43435192 43435192 single base substitution C T upstream_gene_variant SKCA-BR 7 43437199 43437199 single base substitution G A intron_variant SKCA-BR 7 43437896 43437896 single base substitution G A intron_variant SKCA-BR 7 43438178 43438178 single base substitution C T intron_variant SKCA-BR 7 43440914 43440914 single base substitution C T intron_variant SKCA-BR 7 43440956 43440956 single base substitution G A intron_variant SKCA-BR 7 43441184 43441184 single base substitution T C intron_variant SKCA-BR 7 43441187 43441187 single base substitution C T intron_variant SKCA-BR 7 43442508 43442508 single base substitution G A intron_variant SKCA-BR 7 43443455 43443455 single base substitution G A intron_variant SKCA-BR 7 43444966 43444966 single base substitution T G intron_variant SKCA-BR 7 43445915 43445915 single base substitution C T intron_variant SKCA-BR 7 43446964 43446964 single base substitution G A intron_variant SKCA-BR 7 43446965 43446965 single base substitution G A intron_variant SKCA-BR 7 43448100 43448100 single base substitution G A downstream_gene_variant SKCA-BR 7 43448100 43448100 single base substitution G A intron_variant SKCA-BR 7 43449006 43449006 single base substitution C T downstream_gene_variant SKCA-BR 7 43449006 43449006 single base substitution C T intron_variant SKCA-BR 7 43450644 43450645 deletion of <=200bp AT - downstream_gene_variant SKCA-BR 7 43450644 43450645 deletion of <=200bp AT - intron_variant SKCA-BR 7 43452363 43452363 single base substitution C T intron_variant SKCA-BR 7 43452422 43452422 single base substitution A T intron_variant SKCA-BR 7 43453806 43453806 single base substitution C T intron_variant SKCA-BR 7 43454085 43454085 single base substitution T C intron_variant SKCA-BR 7 43454393 43454393 single base substitution C T intron_variant SKCA-BR 7 43455550 43455550 single base substitution C T intron_variant SKCA-BR 7 43455743 43455743 single base substitution C T intron_variant SKCA-BR 7 43456402 43456402 single base substitution C G intron_variant SKCA-BR 7 43456430 43456430 single base substitution G A intron_variant SKCA-BR 7 43456453 43456453 single base substitution C T intron_variant SKCA-BR 7 43456840 43456840 single base substitution G A intron_variant SKCA-BR 7 43456841 43456841 single base substitution G A intron_variant SKCA-BR 7 43457251 43457251 single base substitution C T intron_variant SKCA-BR 7 43458103 43458103 single base substitution C T intron_variant SKCA-BR 7 43458612 43458612 single base substitution C T intron_variant SKCA-BR 7 43458733 43458733 single base substitution C T intron_variant SKCA-BR 7 43459219 43459219 single base substitution C T intron_variant SKCA-BR 7 43459989 43459989 single base substitution A T intron_variant SKCA-BR 7 43460511 43460511 single base substitution G A intron_variant SKCA-BR 7 43462325 43462325 single base substitution T A intron_variant SKCA-BR 7 43462862 43462862 single base substitution C T intron_variant SKCA-BR 7 43463124 43463124 single base substitution G A intron_variant SKCA-BR 7 43464173 43464173 single base substitution G A intron_variant SKCA-BR 7 43464474 43464474 single base substitution G A intron_variant SKCA-BR 7 43464824 43464824 insertion of <=200bp - TCA intron_variant SKCA-BR 7 43468932 43468932 single base substitution T C intron_variant SKCA-BR 7 43468934 43468934 single base substitution T C intron_variant SKCA-BR 7 43469745 43469745 insertion of <=200bp - AT intron_variant SKCA-BR 7 43471995 43471995 single base substitution C T intron_variant SKCA-BR 7 43471996 43471996 single base substitution C T intron_variant SKCA-BR 7 43472288 43472288 single base substitution G A intron_variant SKCA-BR 7 43474140 43474140 single base substitution C T intron_variant SKCA-BR 7 43477530 43477530 single base substitution G A intron_variant SKCA-BR 7 43478732 43478732 single base substitution G A downstream_gene_variant SKCA-BR 7 43478732 43478732 single base substitution G A exon_variant SKCA-BR 7 43478732 43478732 single base substitution G A intron_variant SKCA-BR 7 43480657 43480657 single base substitution C T downstream_gene_variant SKCA-BR 7 43480657 43480657 single base substitution C T intron_variant SKCA-BR 7 43480882 43480882 single base substitution C T downstream_gene_variant SKCA-BR 7 43480882 43480882 single base substitution C T intron_variant SKCA-BR 7 43481115 43481115 single base substitution G A downstream_gene_variant SKCA-BR 7 43481115 43481115 single base substitution G A intron_variant SKCA-BR 7 43481974 43481974 single base substitution C T downstream_gene_variant SKCA-BR 7 43481974 43481974 single base substitution C T intron_variant SKCA-BR 7 43482026 43482026 single base substitution C T downstream_gene_variant SKCA-BR 7 43482026 43482026 single base substitution C T intron_variant SKCA-BR 7 43482719 43482719 single base substitution C T downstream_gene_variant SKCA-BR 7 43482719 43482719 single base substitution C T intron_variant SKCA-BR 7 43483492 43483492 single base substitution C T downstream_gene_variant SKCA-BR 7 43483492 43483492 single base substitution C T intron_variant SKCA-BR 7 43483623 43483623 single base substitution G C downstream_gene_variant SKCA-BR 7 43483623 43483623 single base substitution G C intron_variant SKCA-BR 7 43484360 43484360 single base substitution G A downstream_gene_variant SKCA-BR 7 43484360 43484360 single base substitution G A missense_variant R530K 1589G>A SKCA-BR 7 43484983 43484983 single base substitution G A downstream_gene_variant SKCA-BR 7 43484983 43484983 single base substitution G A missense_variant D738N 2212G>A SKCA-BR 7 43487479 43487479 single base substitution C A intron_variant SKCA-BR 7 43488087 43488087 single base substitution G C intron_variant SKCA-BR 7 43489407 43489407 single base substitution T C intron_variant SKCA-BR 7 43489864 43489864 single base substitution C T intron_variant SKCA-BR 7 43490477 43490477 single base substitution C T intron_variant SKCA-BR 7 43490477 43490477 single base substitution C T synonymous_variant L817L 2449C>T SKCA-BR 7 43492787 43492787 single base substitution G A intron_variant SKCA-BR 7 43492920 43492920 single base substitution G A intron_variant SKCA-BR 7 43493537 43493537 single base substitution T C intron_variant SKCA-BR 7 43496262 43496262 single base substitution G A intron_variant SKCA-BR 7 43497373 43497373 insertion of <=200bp - CA intron_variant SKCA-BR 7 43497680 43497680 single base substitution C T intron_variant SKCA-BR 7 43499038 43499038 single base substitution G A intron_variant SKCA-BR 7 43499858 43499858 single base substitution C T intron_variant SKCA-BR 7 43500047 43500047 single base substitution G A intron_variant SKCA-BR 7 43501130 43501130 single base substitution C G intron_variant SKCA-BR 7 43501243 43501243 single base substitution C T intron_variant SKCA-BR 7 43502157 43502157 single base substitution C T intron_variant SKCA-BR 7 43502405 43502405 single base substitution G A intron_variant SKCA-BR 7 43502557 43502557 single base substitution C T intron_variant SKCA-BR 7 43503973 43503973 single base substitution G A intron_variant SKCA-BR 7 43505099 43505099 single base substitution T G intron_variant SKCA-BR 7 43505179 43505179 single base substitution G A intron_variant SKCA-BR 7 43507213 43507213 single base substitution T G intron_variant SKCA-BR 7 43510733 43510733 single base substitution C T intron_variant SKCA-BR 7 43514846 43514846 single base substitution A T intron_variant SKCA-BR 7 43514846 43514846 single base substitution A T upstream_gene_variant SKCA-BR 7 43517802 43517802 single base substitution G A intron_variant SKCA-BR 7 43517802 43517802 single base substitution G A upstream_gene_variant SKCA-BR 7 43517803 43517803 single base substitution G A intron_variant SKCA-BR 7 43517803 43517803 single base substitution G A upstream_gene_variant SKCA-BR 7 43517992 43517992 single base substitution G A intron_variant SKCA-BR 7 43517992 43517992 single base substitution G A upstream_gene_variant SKCA-BR 7 43520284 43520284 single base substitution A T intron_variant SKCA-BR 7 43522868 43522868 single base substitution G A intron_variant SKCA-BR 7 43522910 43522910 single base substitution G A intron_variant SKCA-BR 7 43523730 43523730 single base substitution C T intron_variant SKCA-BR 7 43523890 43523890 single base substitution G A exon_variant SKCA-BR 7 43523890 43523890 single base substitution G A intron_variant SKCA-BR 7 43523953 43523953 single base substitution G A exon_variant SKCA-BR 7 43523953 43523953 single base substitution G A intron_variant SKCA-BR 7 43527563 43527563 insertion of <=200bp - AAGAGAG downstream_gene_variant SKCA-BR 7 43527563 43527563 insertion of <=200bp - AAGAGAG intron_variant SKCA-BR 7 43528033 43528033 insertion of <=200bp - GAA downstream_gene_variant SKCA-BR 7 43528033 43528033 insertion of <=200bp - GAA intron_variant SKCA-BR 7 43529701 43529701 single base substitution G A intron_variant SKCA-BR 7 43532799 43532799 single base substitution C T intron_variant SKCA-BR 7 43533357 43533357 single base substitution C T intron_variant SKCA-BR 7 43533503 43533503 single base substitution G A intron_variant SKCA-BR 7 43534684 43534684 single base substitution A G intron_variant SKCA-BR 7 43535417 43535417 single base substitution G A intron_variant SKCA-BR 7 43536182 43536182 single base substitution G A intron_variant SKCA-BR 7 43536467 43536467 single base substitution C T intron_variant SKCA-BR 7 43539067 43539067 insertion of <=200bp - CAA intron_variant SKCA-BR 7 43539387 43539387 single base substitution G A intron_variant SKCA-BR 7 43540172 43540172 single base substitution A T intron_variant SKCA-BR 7 43540513 43540513 single base substitution A G intron_variant SKCA-BR 7 43544076 43544076 single base substitution A C intron_variant SKCA-BR 7 43544495 43544495 single base substitution G A intron_variant SKCA-BR 7 43545355 43545355 single base substitution C T intron_variant SKCA-BR 7 43546251 43546251 single base substitution G A intron_variant SKCA-BR 7 43552697 43552697 single base substitution A C intron_variant SKCA-BR 7 43553640 43553640 single base substitution G A intron_variant SKCA-BR 7 43553900 43553900 insertion of <=200bp - CT intron_variant SKCA-BR 7 43555996 43555996 single base substitution T C intron_variant SKCA-BR 7 43556922 43556922 single base substitution A C intron_variant SKCA-BR 7 43559357 43559357 single base substitution C T intron_variant SKCA-BR 7 43559539 43559539 single base substitution G T intron_variant SKCA-BR 7 43560904 43560904 single base substitution G A intron_variant SKCA-BR 7 43561298 43561298 single base substitution A G intron_variant SKCA-BR 7 43561332 43561332 single base substitution G A intron_variant SKCA-BR 7 43562496 43562496 single base substitution C T intron_variant SKCA-BR 7 43562701 43562701 single base substitution C T intron_variant SKCA-BR 7 43562701 43562701 single base substitution C T synonymous_variant F48F 144C>T SKCA-BR 7 43562793 43562793 single base substitution G A intron_variant SKCA-BR 7 43562824 43562824 single base substitution G A intron_variant SKCA-BR 7 43564623 43564623 single base substitution G A intron_variant SKCA-BR 7 43565236 43565236 single base substitution C T intron_variant SKCA-BR 7 43566970 43566970 single base substitution C T intron_variant SKCA-BR 7 43567840 43567840 single base substitution G A intron_variant SKCA-BR 7 43568331 43568331 single base substitution G A intron_variant SKCA-BR 7 43573177 43573177 single base substitution G A intron_variant SKCA-BR 7 43576036 43576036 single base substitution A C intron_variant SKCA-BR 7 43576279 43576279 single base substitution G A intron_variant SKCA-BR 7 43577933 43577933 single base substitution G A intron_variant SKCA-BR 7 43578279 43578279 single base substitution G A intron_variant SKCA-BR 7 43578705 43578705 single base substitution C T intron_variant SKCA-BR 7 43578883 43578883 single base substitution G A intron_variant SKCA-BR 7 43580265 43580265 single base substitution T C intron_variant SKCA-BR 7 43581218 43581218 single base substitution C T intron_variant SKCA-BR 7 43581946 43581946 single base substitution C T downstream_gene_variant SKCA-BR 7 43581946 43581946 single base substitution C T intron_variant SKCA-BR 7 43582194 43582194 single base substitution G A downstream_gene_variant SKCA-BR 7 43582194 43582194 single base substitution G A intron_variant SKCA-BR 7 43583199 43583199 single base substitution G A downstream_gene_variant SKCA-BR 7 43583199 43583199 single base substitution G A intron_variant SKCA-BR 7 43583398 43583398 single base substitution G A downstream_gene_variant SKCA-BR 7 43583398 43583398 single base substitution G A intron_variant SKCA-BR 7 43584216 43584216 single base substitution G A downstream_gene_variant SKCA-BR 7 43584216 43584216 single base substitution G A intron_variant SKCA-BR 7 43584462 43584462 single base substitution G A downstream_gene_variant SKCA-BR 7 43584462 43584462 single base substitution G A intron_variant SKCA-BR 7 43584936 43584936 single base substitution G A downstream_gene_variant SKCA-BR 7 43584936 43584936 single base substitution G A intron_variant SKCA-BR 7 43586015 43586015 single base substitution C T downstream_gene_variant SKCA-BR 7 43586015 43586015 single base substitution C T intron_variant SKCA-BR 7 43587119 43587119 single base substitution C T intron_variant SKCA-BR 7 43587713 43587713 single base substitution C G intron_variant SKCA-BR 7 43591163 43591163 single base substitution T A intron_variant SKCA-BR 7 43591170 43591170 single base substitution C T intron_variant SKCA-BR 7 43591292 43591292 single base substitution G T intron_variant SKCA-BR 7 43593092 43593092 single base substitution A C intron_variant SKCA-BR 7 43593255 43593255 single base substitution G A intron_variant SKCA-BR 7 43595403 43595403 single base substitution C T intron_variant SKCA-BR 7 43596295 43596295 insertion of <=200bp - TC intron_variant SKCA-BR 7 43597275 43597275 single base substitution G A intron_variant SKCA-BR 7 43597682 43597682 single base substitution G A intron_variant SKCA-BR 7 43599254 43599254 single base substitution G A intron_variant SKCA-BR 7 43601499 43601499 single base substitution G A missense_variant E1565K 4693G>A SKCA-BR 7 43601499 43601499 single base substitution G A missense_variant E1599K 4795G>A SKCA-BR 7 43602615 43602615 single base substitution C T 3_prime_UTR_variant SKCA-BR 7 43602615 43602615 single base substitution C T downstream_gene_variant SKCA-BR 7 43602849 43602849 single base substitution G A 3_prime_UTR_variant SKCA-BR 7 43602849 43602849 single base substitution G A downstream_gene_variant SKCA-BR 7 43602977 43602977 single base substitution G A 3_prime_UTR_variant SKCA-BR 7 43602977 43602977 single base substitution G A downstream_gene_variant SKCA-BR 7 43603196 43603196 single base substitution G A 3_prime_UTR_variant SKCA-BR 7 43603196 43603196 single base substitution G A downstream_gene_variant SKCA-BR 7 43603504 43603504 single base substitution T G 3_prime_UTR_variant SKCA-BR 7 43603504 43603504 single base substitution T G downstream_gene_variant SKCA-BR 7 43603547 43603547 single base substitution C T 3_prime_UTR_variant SKCA-BR 7 43603547 43603547 single base substitution C T downstream_gene_variant SKCA-BR 7 43605516 43605516 single base substitution G A 3_prime_UTR_variant SKCA-BR 7 43605516 43605516 single base substitution G A downstream_gene_variant SKCA-BR 7 43606108 43606108 single base substitution G A downstream_gene_variant SKCA-BR 7 43607660 43607660 single base substitution G A downstream_gene_variant SKCA-BR 7 43610592 43610592 single base substitution C T downstream_gene_variant SKCM-US 7 43351401 43351401 single base substitution G A exon_variant SKCM-US 7 43351401 43351401 single base substitution G A missense_variant A23T 67G>A SKCM-US 7 43351432 43351432 single base substitution G C exon_variant SKCM-US 7 43351432 43351432 single base substitution G C missense_variant R33P 98G>C SKCM-US 7 43351456 43351456 single base substitution A G exon_variant SKCM-US 7 43351456 43351456 single base substitution A G missense_variant Y41C 122A>G SKCM-US 7 43351470 43351470 single base substitution G A exon_variant SKCM-US 7 43351470 43351470 single base substitution G A missense_variant D46N 136G>A SKCM-US 7 43351512 43351512 single base substitution G A exon_variant SKCM-US 7 43351512 43351512 single base substitution G A missense_variant G60S 178G>A SKCM-US 7 43351577 43351577 single base substitution C T exon_variant SKCM-US 7 43351577 43351577 single base substitution C T synonymous_variant L81L 243C>T SKCM-US 7 43351592 43351592 single base substitution C T downstream_gene_variant SKCM-US 7 43351592 43351592 single base substitution C T exon_variant SKCM-US 7 43351592 43351592 single base substitution C T synonymous_variant S86S 258C>T SKCM-US 7 43351612 43351612 single base substitution C T downstream_gene_variant SKCM-US 7 43351612 43351612 single base substitution C T exon_variant SKCM-US 7 43351612 43351612 single base substitution C T missense_variant S93F 278C>T SKCM-US 7 43360272 43360272 single base substitution C T exon_variant SKCM-US 7 43360272 43360272 single base substitution C T missense_variant R131C 391C>T SKCM-US 7 43360327 43360327 single base substitution C T exon_variant SKCM-US 7 43360327 43360327 single base substitution C T missense_variant S149L 446C>T SKCM-US 7 43436448 43436448 single base substitution A G exon_variant SKCM-US 7 43436448 43436448 single base substitution A G synonymous_variant Q197Q 591A>G SKCM-US 7 43436449 43436449 single base substitution G A exon_variant SKCM-US 7 43436449 43436449 single base substitution G A missense_variant G198R 592G>A SKCM-US 7 43436450 43436450 single base substitution G A exon_variant SKCM-US 7 43436450 43436450 single base substitution G A missense_variant G198E 593G>A SKCM-US 7 43436461 43436461 single base substitution C T exon_variant SKCM-US 7 43436461 43436461 single base substitution C T missense_variant R202W 604C>T SKCM-US 7 43447209 43447209 single base substitution C T exon_variant SKCM-US 7 43447209 43447209 single base substitution C T missense_variant P227L 680C>T SKCM-US 7 43447216 43447216 single base substitution G A exon_variant SKCM-US 7 43447216 43447216 single base substitution G A synonymous_variant L229L 687G>A SKCM-US 7 43447229 43447229 single base substitution C T exon_variant SKCM-US 7 43447229 43447229 single base substitution C T stop_gained Q234* 700C>T SKCM-US 7 43447259 43447259 single base substitution C T exon_variant SKCM-US 7 43447259 43447259 single base substitution C T missense_variant L244F 730C>T SKCM-US 7 43477637 43477637 single base substitution G A exon_variant SKCM-US 7 43477637 43477637 single base substitution G A synonymous_variant L279L 837G>A SKCM-US 7 43477638 43477638 single base substitution G A exon_variant SKCM-US 7 43477638 43477638 single base substitution G A missense_variant E280K 838G>A SKCM-US 7 43483832 43483832 single base substitution C T downstream_gene_variant SKCM-US 7 43483832 43483832 single base substitution C T missense_variant S354F 1061C>T SKCM-US 7 43483963 43483963 single base substitution G A downstream_gene_variant SKCM-US 7 43483963 43483963 single base substitution G A missense_variant E398K 1192G>A SKCM-US 7 43484077 43484077 single base substitution G T downstream_gene_variant SKCM-US 7 43484077 43484077 single base substitution G T stop_gained E436* 1306G>T SKCM-US 7 43484094 43484094 single base substitution C T downstream_gene_variant SKCM-US 7 43484094 43484094 single base substitution C T synonymous_variant L441L 1323C>T SKCM-US 7 43484247 43484247 single base substitution G A downstream_gene_variant SKCM-US 7 43484247 43484247 single base substitution G A synonymous_variant T492T 1476G>A SKCM-US 7 43484268 43484268 single base substitution G A downstream_gene_variant SKCM-US 7 43484268 43484268 single base substitution G A synonymous_variant R499R 1497G>A SKCM-US 7 43484277 43484277 single base substitution G A downstream_gene_variant SKCM-US 7 43484277 43484277 single base substitution G A synonymous_variant E502E 1506G>A SKCM-US 7 43484300 43484300 single base substitution G A downstream_gene_variant SKCM-US 7 43484300 43484300 single base substitution G A missense_variant G510E 1529G>A SKCM-US 7 43484424 43484424 single base substitution G A downstream_gene_variant SKCM-US 7 43484424 43484424 single base substitution G A synonymous_variant G551G 1653G>A SKCM-US 7 43484484 43484484 single base substitution C T downstream_gene_variant SKCM-US 7 43484484 43484484 single base substitution C T synonymous_variant P571P 1713C>T SKCM-US 7 43484526 43484526 single base substitution G A downstream_gene_variant SKCM-US 7 43484526 43484526 single base substitution G A synonymous_variant A585A 1755G>A SKCM-US 7 43484569 43484569 single base substitution C T downstream_gene_variant SKCM-US 7 43484569 43484569 single base substitution C T missense_variant L600F 1798C>T SKCM-US 7 43484587 43484587 single base substitution G A downstream_gene_variant SKCM-US 7 43484587 43484587 single base substitution G A missense_variant V606M 1816G>A SKCM-US 7 43484616 43484616 single base substitution G A downstream_gene_variant SKCM-US 7 43484616 43484616 single base substitution G A synonymous_variant E615E 1845G>A SKCM-US 7 43484697 43484697 single base substitution T C downstream_gene_variant SKCM-US 7 43484697 43484697 single base substitution T C synonymous_variant N642N 1926T>C SKCM-US 7 43484698 43484698 single base substitution G A downstream_gene_variant SKCM-US 7 43484698 43484698 single base substitution G A missense_variant G643S 1927G>A SKCM-US 7 43484873 43484873 single base substitution C T downstream_gene_variant SKCM-US 7 43484873 43484873 single base substitution C T missense_variant S701L 2102C>T SKCM-US 7 43484894 43484894 single base substitution A C downstream_gene_variant SKCM-US 7 43484894 43484894 single base substitution A C missense_variant Y708S 2123A>C SKCM-US 7 43484930 43484930 single base substitution C T downstream_gene_variant SKCM-US 7 43484930 43484930 single base substitution C T missense_variant S720F 2159C>T SKCM-US 7 43484933 43484933 single base substitution C T downstream_gene_variant SKCM-US 7 43484933 43484933 single base substitution C T missense_variant S721F 2162C>T SKCM-US 7 43484956 43484956 single base substitution G A downstream_gene_variant SKCM-US 7 43484956 43484956 single base substitution G A missense_variant E729K 2185G>A SKCM-US 7 43484986 43484986 single base substitution G A downstream_gene_variant SKCM-US 7 43484986 43484986 single base substitution G A missense_variant E739K 2215G>A SKCM-US 7 43495908 43495908 single base substitution G A missense_variant R804Q 2411G>A SKCM-US 7 43495908 43495908 single base substitution G A missense_variant R838Q 2513G>A SKCM-US 7 43495939 43495939 single base substitution G A synonymous_variant V814V 2442G>A SKCM-US 7 43495939 43495939 single base substitution G A synonymous_variant V848V 2544G>A SKCM-US 7 43496010 43496010 single base substitution C T missense_variant S838L 2513C>T SKCM-US 7 43496010 43496010 single base substitution C T missense_variant S872L 2615C>T SKCM-US 7 43503375 43503375 single base substitution C T missense_variant A889V 2666C>T SKCM-US 7 43503375 43503375 single base substitution C T missense_variant A923V 2768C>T SKCM-US 7 43506080 43506080 single base substitution C A missense_variant N908K 2724C>A SKCM-US 7 43506080 43506080 single base substitution C A missense_variant N942K 2826C>A SKCM-US 7 43508545 43508545 single base substitution C T synonymous_variant S946S 2838C>T SKCM-US 7 43508545 43508545 single base substitution C T synonymous_variant S980S 2940C>T SKCM-US 7 43508575 43508575 single base substitution C T synonymous_variant V956V 2868C>T SKCM-US 7 43508575 43508575 single base substitution C T synonymous_variant V990V 2970C>T SKCM-US 7 43508616 43508616 single base substitution G A missense_variant R1004Q 3011G>A SKCM-US 7 43508616 43508616 single base substitution G A missense_variant R970Q 2909G>A SKCM-US 7 43508618 43508618 single base substitution G A missense_variant D1005N 3013G>A SKCM-US 7 43508618 43508618 single base substitution G A missense_variant D971N 2911G>A SKCM-US 7 43508655 43508655 single base substitution G A missense_variant R1017Q 3050G>A SKCM-US 7 43508655 43508655 single base substitution G A missense_variant R983Q 2948G>A SKCM-US 7 43508659 43508659 single base substitution G A synonymous_variant L1018L 3054G>A SKCM-US 7 43508659 43508659 single base substitution G A synonymous_variant L984L 2952G>A SKCM-US 7 43519247 43519247 single base substitution C T exon_variant SKCM-US 7 43519247 43519247 single base substitution C T synonymous_variant F1012F 3036C>T SKCM-US 7 43519247 43519247 single base substitution C T synonymous_variant F1046F 3138C>T SKCM-US 7 43519247 43519247 single base substitution C T upstream_gene_variant SKCM-US 7 43519254 43519254 single base substitution C T exon_variant SKCM-US 7 43519254 43519254 single base substitution C T missense_variant P1015S 3043C>T SKCM-US 7 43519254 43519254 single base substitution C T missense_variant P1049S 3145C>T SKCM-US 7 43519254 43519254 single base substitution C T missense_variant P1S 1C>T SKCM-US 7 43519324 43519324 single base substitution G A exon_variant SKCM-US 7 43519324 43519324 single base substitution G A missense_variant R1038Q 3113G>A SKCM-US 7 43519324 43519324 single base substitution G A missense_variant R1072Q 3215G>A SKCM-US 7 43519324 43519324 single base substitution G A missense_variant R24Q 71G>A SKCM-US 7 43532712 43532712 single base substitution C T intron_variant SKCM-US 7 43532712 43532712 single base substitution C T missense_variant R1090C 3268C>T SKCM-US 7 43532712 43532712 single base substitution C T missense_variant R1124C 3370C>T SKCM-US 7 43546817 43546817 single base substitution T G intron_variant SKCM-US 7 43546817 43546817 single base substitution T G missense_variant L1204R 3611T>G SKCM-US 7 43546817 43546817 single base substitution T G missense_variant L1238R 3713T>G SKCM-US 7 43546829 43546829 single base substitution G A intron_variant SKCM-US 7 43546829 43546829 single base substitution G A missense_variant G1208E 3623G>A SKCM-US 7 43546829 43546829 single base substitution G A missense_variant G1242E 3725G>A SKCM-US 7 43547627 43547627 single base substitution C T intron_variant SKCM-US 7 43547627 43547627 single base substitution C T missense_variant R1221C 3661C>T SKCM-US 7 43547627 43547627 single base substitution C T missense_variant R1255C 3763C>T SKCM-US 7 43547663 43547663 single base substitution G A intron_variant SKCM-US 7 43547663 43547663 single base substitution G A missense_variant V1233M 3697G>A SKCM-US 7 43547663 43547663 single base substitution G A missense_variant V1267M 3799G>A SKCM-US 7 43547680 43547680 single base substitution G A intron_variant SKCM-US 7 43547680 43547680 single base substitution G A synonymous_variant R1238R 3714G>A SKCM-US 7 43547680 43547680 single base substitution G A synonymous_variant R1272R 3816G>A SKCM-US 7 43547729 43547729 single base substitution G A intron_variant SKCM-US 7 43547729 43547729 single base substitution G A missense_variant G1255S 3763G>A SKCM-US 7 43547729 43547729 single base substitution G A missense_variant G1289S 3865G>A SKCM-US 7 43548571 43548571 single base substitution G A intron_variant SKCM-US 7 43548571 43548571 single base substitution G A synonymous_variant L1256L 3768G>A SKCM-US 7 43548571 43548571 single base substitution G A synonymous_variant L1290L 3870G>A SKCM-US 7 43580787 43580787 single base substitution G A missense_variant G1315S 3943G>A SKCM-US 7 43580787 43580787 single base substitution G A missense_variant G1349S 4045G>A SKCM-US 7 43580787 43580787 single base substitution G A missense_variant G72S 214G>A SKCM-US 7 43580801 43580801 single base substitution C T synonymous_variant I1319I 3957C>T SKCM-US 7 43580801 43580801 single base substitution C T synonymous_variant I1353I 4059C>T SKCM-US 7 43580801 43580801 single base substitution C T synonymous_variant I76I 228C>T SKCM-US 7 43590049 43590049 single base substitution G A synonymous_variant T1384T 4152G>A SKCM-US 7 43590049 43590049 single base substitution G A synonymous_variant T1418T 4254G>A SKCM-US 7 43590091 43590091 single base substitution G A synonymous_variant T1398T 4194G>A SKCM-US 7 43590091 43590091 single base substitution G A synonymous_variant T1432T 4296G>A SKCM-US 7 43591895 43591895 single base substitution C T synonymous_variant I1456I 4368C>T SKCM-US 7 43591895 43591895 single base substitution C T synonymous_variant I1490I 4470C>T SKCM-US 7 43591931 43591931 single base substitution G A synonymous_variant R1468R 4404G>A SKCM-US 7 43591931 43591931 single base substitution G A synonymous_variant R1502R 4506G>A SKCM-US 7 43594307 43594307 single base substitution G A missense_variant E1509K 4525G>A SKCM-US 7 43594307 43594307 single base substitution G A missense_variant E1543K 4627G>A SKCM-US 7 43594324 43594324 single base substitution C T synonymous_variant L1514L 4542C>T SKCM-US 7 43594324 43594324 single base substitution C T synonymous_variant L1548L 4644C>T SKCM-US 7 43594360 43594360 single base substitution G T missense_variant E1526D 4578G>T SKCM-US 7 43594360 43594360 single base substitution G T missense_variant E1560D 4680G>T SKCM-US 7 43594369 43594369 single base substitution G A synonymous_variant G1529G 4587G>A SKCM-US 7 43594369 43594369 single base substitution G A synonymous_variant G1563G 4689G>A STAD-US 7 43351403 43351403 single base substitution G A exon_variant STAD-US 7 43351403 43351403 single base substitution G A synonymous_variant A23A 69G>A STAD-US 7 43351483 43351483 single base substitution A G exon_variant STAD-US 7 43351483 43351483 single base substitution A G missense_variant N50S 149A>G STAD-US 7 43351499 43351499 single base substitution C T exon_variant STAD-US 7 43351499 43351499 single base substitution C T synonymous_variant G55G 165C>T STAD-US 7 43351573 43351573 single base substitution C T exon_variant STAD-US 7 43351573 43351573 single base substitution C T missense_variant T80M 239C>T STAD-US 7 43447289 43447289 single base substitution A G exon_variant STAD-US 7 43447289 43447289 single base substitution A G missense_variant K254E 760A>G STAD-US 7 43477677 43477677 single base substitution A G exon_variant STAD-US 7 43477677 43477677 single base substitution A G missense_variant I293V 877A>G STAD-US 7 43477736 43477736 single base substitution C T exon_variant STAD-US 7 43477736 43477736 single base substitution C T synonymous_variant H312H 936C>T STAD-US 7 43477737 43477737 single base substitution G A exon_variant STAD-US 7 43477737 43477737 single base substitution G A missense_variant A313T 937G>A STAD-US 7 43483816 43483816 single base substitution G T downstream_gene_variant STAD-US 7 43483816 43483816 single base substitution G T splice_acceptor_variant STAD-US 7 43483913 43483913 single base substitution G A downstream_gene_variant STAD-US 7 43483913 43483913 single base substitution G A missense_variant R381Q 1142G>A STAD-US 7 43484720 43484720 single base substitution C T downstream_gene_variant STAD-US 7 43484720 43484720 single base substitution C T missense_variant T650M 1949C>T STAD-US 7 43484721 43484721 single base substitution G A downstream_gene_variant STAD-US 7 43484721 43484721 single base substitution G A synonymous_variant T650T 1950G>A STAD-US 7 43484813 43484813 single base substitution C T downstream_gene_variant STAD-US 7 43484813 43484813 single base substitution C T missense_variant S681L 2042C>T STAD-US 7 43484841 43484841 single base substitution G A downstream_gene_variant STAD-US 7 43484841 43484841 single base substitution G A synonymous_variant T690T 2070G>A STAD-US 7 43485109 43485109 single base substitution G A downstream_gene_variant STAD-US 7 43485109 43485109 single base substitution G A missense_variant V780M 2338G>A STAD-US 7 43490478 43490478 single base substitution T G intron_variant STAD-US 7 43490478 43490478 single base substitution T G missense_variant L817R 2450T>G STAD-US 7 43503275 43503275 single base substitution C T stop_gained R856* 2566C>T STAD-US 7 43503275 43503275 single base substitution C T stop_gained R890* 2668C>T STAD-US 7 43503377 43503377 single base substitution G T stop_gained E890* 2668G>T STAD-US 7 43503377 43503377 single base substitution G T stop_gained E924* 2770G>T STAD-US 7 43506151 43506151 single base substitution T C missense_variant V932A 2795T>C STAD-US 7 43506151 43506151 single base substitution T C missense_variant V966A 2897T>C STAD-US 7 43508655 43508655 single base substitution G A missense_variant R1017Q 3050G>A STAD-US 7 43508655 43508655 single base substitution G A missense_variant R983Q 2948G>A STAD-US 7 43508671 43508671 single base substitution G A synonymous_variant R1022R 3066G>A STAD-US 7 43508671 43508671 single base substitution G A synonymous_variant R988R 2964G>A STAD-US 7 43532713 43532713 single base substitution G A intron_variant STAD-US 7 43532713 43532713 single base substitution G A missense_variant R1090H 3269G>A STAD-US 7 43532713 43532713 single base substitution G A missense_variant R1124H 3371G>A STAD-US 7 43540325 43540325 deletion of <=200bp G - frameshift_variant E1121 STAD-US 7 43540325 43540325 deletion of <=200bp G - frameshift_variant E1155 STAD-US 7 43540325 43540325 deletion of <=200bp G - intron_variant STAD-US 7 43546741 43546741 single base substitution C T intron_variant STAD-US 7 43546741 43546741 single base substitution C T stop_gained Q1179* 3535C>T STAD-US 7 43546741 43546741 single base substitution C T stop_gained Q1213* 3637C>T STAD-US 7 43546793 43546793 single base substitution A C intron_variant STAD-US 7 43546793 43546793 single base substitution A C missense_variant K1196T 3587A>C STAD-US 7 43546793 43546793 single base substitution A C missense_variant K1230T 3689A>C STAD-US 7 43547663 43547663 single base substitution G C intron_variant STAD-US 7 43547663 43547663 single base substitution G C missense_variant V1233L 3697G>C STAD-US 7 43547663 43547663 single base substitution G C missense_variant V1267L 3799G>C STAD-US 7 43547678 43547678 single base substitution C T intron_variant STAD-US 7 43547678 43547678 single base substitution C T missense_variant R1238W 3712C>T STAD-US 7 43547678 43547678 single base substitution C T missense_variant R1272W 3814C>T STAD-US 7 43547694 43547694 single base substitution G A intron_variant STAD-US 7 43547694 43547694 single base substitution G A missense_variant R1243Q 3728G>A STAD-US 7 43547694 43547694 single base substitution G A missense_variant R1277Q 3830G>A STAD-US 7 43547711 43547711 single base substitution A G intron_variant STAD-US 7 43547711 43547711 single base substitution A G missense_variant T1249A 3745A>G STAD-US 7 43547711 43547711 single base substitution A G missense_variant T1283A 3847A>G STAD-US 7 43580834 43580834 single base substitution G T missense_variant R1330S 3990G>T STAD-US 7 43580834 43580834 single base substitution G T missense_variant R1364S 4092G>T STAD-US 7 43580834 43580834 single base substitution G T missense_variant R87S 261G>T STAD-US 7 43581478 43581478 single base substitution T G missense_variant L100V 298T>G STAD-US 7 43581478 43581478 single base substitution T G missense_variant L1343V 4027T>G STAD-US 7 43581478 43581478 single base substitution T G missense_variant L1377V 4129T>G STAD-US 7 43590095 43590095 deletion of <=200bp A - frameshift_variant K1400 STAD-US 7 43590095 43590095 deletion of <=200bp A - frameshift_variant K1434 STAD-US 7 43590143 43590143 single base substitution C T missense_variant R1416C 4246C>T STAD-US 7 43590143 43590143 single base substitution C T missense_variant R1450C 4348C>T STAD-US 7 43590149 43590149 single base substitution G A missense_variant V1418M 4252G>A STAD-US 7 43590149 43590149 single base substitution G A missense_variant V1452M 4354G>A STAD-US 7 43591891 43591891 insertion of <=200bp - A frameshift_variant E1455E? STAD-US 7 43591891 43591891 insertion of <=200bp - A frameshift_variant E1489E? STAD-US 7 43594297 43594297 single base substitution C T synonymous_variant S1505S 4515C>T STAD-US 7 43594297 43594297 single base substitution C T synonymous_variant S1539S 4617C>T THCA-SA 7 43152424 43152424 single base substitution C T 5_prime_UTR_variant THCA-SA 7 43152424 43152424 single base substitution C T exon_variant THCA-SA 7 43152424 43152424 single base substitution C T upstream_gene_variant THCA-SA 7 43483981 43483981 single base substitution G C downstream_gene_variant THCA-SA 7 43483981 43483981 single base substitution G C missense_variant G404R 1210G>C THCA-SA 7 43540887 43540887 single base substitution A C intron_variant THCA-SA 7 43540887 43540887 single base substitution A C synonymous_variant R1165R 3495A>C THCA-SA 7 43540887 43540887 single base substitution A C synonymous_variant R1199R 3597A>C UCEC-US 7 43351602 43351602 single base substitution A G downstream_gene_variant UCEC-US 7 43351602 43351602 single base substitution A G exon_variant UCEC-US 7 43351602 43351602 single base substitution A G missense_variant I90V 268A>G UCEC-US 7 43351633 43351633 single base substitution G T downstream_gene_variant UCEC-US 7 43351633 43351633 single base substitution G T exon_variant UCEC-US 7 43351633 43351633 single base substitution G T missense_variant W100L 299G>T UCEC-US 7 43351657 43351657 single base substitution C T downstream_gene_variant UCEC-US 7 43351657 43351657 single base substitution C T exon_variant UCEC-US 7 43351657 43351657 single base substitution C T missense_variant A108V 323C>T UCEC-US 7 43360256 43360256 single base substitution T G exon_variant UCEC-US 7 43360256 43360256 single base substitution T G missense_variant F125L 375T>G UCEC-US 7 43360288 43360288 single base substitution C T exon_variant UCEC-US 7 43360288 43360288 single base substitution C T missense_variant S136F 407C>T UCEC-US 7 43436412 43436412 single base substitution G T splice_acceptor_variant UCEC-US 7 43436461 43436461 single base substitution C T exon_variant UCEC-US 7 43436461 43436461 single base substitution C T missense_variant R202W 604C>T UCEC-US 7 43447270 43447270 single base substitution T C exon_variant UCEC-US 7 43447270 43447270 single base substitution T C synonymous_variant H247H 741T>C UCEC-US 7 43477705 43477705 single base substitution C T exon_variant UCEC-US 7 43477705 43477705 single base substitution C T missense_variant S302L 905C>T UCEC-US 7 43483983 43483983 single base substitution T C downstream_gene_variant UCEC-US 7 43483983 43483983 single base substitution T C synonymous_variant G404G 1212T>C UCEC-US 7 43484056 43484056 single base substitution G C downstream_gene_variant UCEC-US 7 43484056 43484056 single base substitution G C missense_variant G429R 1285G>C UCEC-US 7 43484440 43484440 single base substitution C T downstream_gene_variant UCEC-US 7 43484440 43484440 single base substitution C T missense_variant R557W 1669C>T UCEC-US 7 43484502 43484502 single base substitution C G downstream_gene_variant UCEC-US 7 43484502 43484502 single base substitution C G missense_variant S577R 1731C>G UCEC-US 7 43484937 43484937 single base substitution G A downstream_gene_variant UCEC-US 7 43484937 43484937 single base substitution G A synonymous_variant V722V 2166G>A UCEC-US 7 43495971 43495971 single base substitution G A missense_variant R825H 2474G>A UCEC-US 7 43495971 43495971 single base substitution G A missense_variant R859H 2576G>A UCEC-US 7 43503260 43503260 single base substitution T C missense_variant Y851H 2551T>C UCEC-US 7 43503260 43503260 single base substitution T C missense_variant Y885H 2653T>C UCEC-US 7 43519303 43519303 single base substitution G A exon_variant UCEC-US 7 43519303 43519303 single base substitution G A missense_variant R1031Q 3092G>A UCEC-US 7 43519303 43519303 single base substitution G A missense_variant R1065Q 3194G>A UCEC-US 7 43519303 43519303 single base substitution G A missense_variant R17Q 50G>A UCEC-US 7 43540347 43540347 single base substitution T A intron_variant UCEC-US 7 43540347 43540347 single base substitution T A missense_variant L1129M 3385T>A UCEC-US 7 43540347 43540347 single base substitution T A missense_variant L1163M 3487T>A UCEC-US 7 43547615 43547615 single base substitution A G intron_variant UCEC-US 7 43547615 43547615 single base substitution A G splice_acceptor_variant UCEC-US 7 43547633 43547633 single base substitution G A intron_variant UCEC-US 7 43547633 43547633 single base substitution G A missense_variant D1223N 3667G>A UCEC-US 7 43547633 43547633 single base substitution G A missense_variant D1257N 3769G>A UCEC-US 7 43580814 43580814 single base substitution C A missense_variant L1324I 3970C>A UCEC-US 7 43580814 43580814 single base substitution C A missense_variant L1358I 4072C>A UCEC-US 7 43580814 43580814 single base substitution C A missense_variant L81I 241C>A UCEC-US 7 43580859 43580859 single base substitution C A missense_variant L1339M 4015C>A UCEC-US 7 43580859 43580859 single base substitution C A missense_variant L1373M 4117C>A UCEC-US 7 43580859 43580859 single base substitution C A missense_variant L96M 286C>A UCEC-US 7 43581573 43581573 single base substitution T G synonymous_variant T131T 393T>G UCEC-US 7 43581573 43581573 single base substitution T G synonymous_variant T1374T 4122T>G UCEC-US 7 43581573 43581573 single base substitution T G synonymous_variant T1408T 4224T>G UCEC-US 7 43590095 43590095 single base substitution A C missense_variant K1400Q 4198A>C UCEC-US 7 43590095 43590095 single base substitution A C missense_variant K1434Q 4300A>C UCEC-US 7 43594325 43594325 single base substitution C T missense_variant R1515C 4543C>T UCEC-US 7 43594325 43594325 single base substitution C T missense_variant R1549C 4645C>T UCEC-US 7 43594343 43594343 single base substitution C T missense_variant R1521W 4561C>T UCEC-US 7 43594343 43594343 single base substitution C T missense_variant R1555W 4663C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-EE-A29D-06 COSM3638812 c.3725G>A p.G1242E Substitution - Missense 7:43507230-43507230 + TCGA-CD-5813-01 COSM3881106 c.3814C>T p.R1272W Substitution - Missense 7:43508079-43508079 + TCGA-A6-5665-01 COSM1450769 c.96A>G p.R32R Substitution - coding silent 7:43311831-43311831 + TCGA-DD-A39V-01 COSM4912491 c.1502A>G p.E501G Substitution - Missense 7:43444674-43444674 + TCGA-EE-A2MR-06 COSM3638789 c.2215G>A p.E739K Substitution - Missense 7:43445387-43445387 + TCGA-60-2720-01 COSM746870 c.1638C>A p.I546I Substitution - coding silent 7:43444810-43444810 + TCGA-CA-6718-01 COSM1089820 c.4663C>T p.R1555W Substitution - Missense 7:43554744-43554744 + LUAD-5V8LT COSM402875 c.4001T>C p.V1334A Substitution - Missense 7:43509103-43509103 + TCGA-G4-6314-01 COSM3412052 c.174C>T p.H58H Substitution - coding silent 7:43311909-43311909 + TCGA-CG-5733-01 COSM3881083 c.2042C>T p.S681L Substitution - Missense 7:43445214-43445214 + sysucc-1370T COSM5472406 c.2111G>A p.S704N Substitution - Missense 7:43445283-43445283 + TCGA-CJ-4901-01 COSM485338 c.335T>G p.I112S Substitution - Missense 7:43312070-43312070 + TCGA-KK-A6E6-01 COSM1450819 c.3694C>T p.R1232C Substitution - Missense 7:43507199-43507199 + NOKSI COSM3230409 c.4343T>G p.V1448G Substitution - Missense 7:43550539-43550539 + CN-AML-NR-08-Dx COSM3762671 c.3228T>C p.A1076A Substitution - coding silent 7:43479738-43479738 + TCGA-CI-6624-01 COSM1568978 c.3820G>A p.E1274K Substitution - Missense 7:43508085-43508085 + RK308_C01 COSM249065 c.3215G>A p.R1072Q Substitution - Missense 7:43479725-43479725 + PT44 COSM5926594 c.728C>T p.A243V Substitution - Missense 7:43407658-43407658 + TCGA-06-2563 COSM2152836 c.2296G>A p.A766T Substitution - Missense 7:43445468-43445468 + TCGA-AP-A0LT-01 COSM1089787 c.3194G>A p.R1065Q Substitution - Missense 7:43479704-43479704 + PD3945a COSM3396815 c.521C>T p.T174I Substitution - Missense 7:43360946-43360946 + LP6005334-DNA_E01 COSM1488559 c.2861C>T p.A954V Substitution - Missense 7:43466516-43466516 + 1_PRE-TREATMENT COSM23131 c.2513G>A p.R838Q Substitution - Missense 7:43456309-43456309 + PT55 COSM5942132 c.2735G>A p.G912E Substitution - Missense 7:43463743-43463743 + SKNEP1 COSM4587411 c.4374G>A p.A1458A Substitution - coding silent 7:43550570-43550570 + TCGA-60-2720-01 COSM746871 c.1638C>A p.I546I Substitution - coding silent 7:43444810-43444810 + RKO COSM1089778 c.2217G>C p.E739D Substitution - Missense 7:43445389-43445389 + sysucc-1143T COSM3230356 c.3500C>T p.A1167V Substitution - Missense 7:43500761-43500761 + ESO-165 COSM1254085 c.2233G>A p.A745T Substitution - Missense 7:43445405-43445405 + CSCC-35-T COSM4524504 c.1276G>A p.G426R Substitution - Missense 7:43444448-43444448 + sysucc-968T COSM5763930 c.1487G>A p.R496Q Substitution - Missense 7:43444659-43444659 + TCGA-29-1763-01 COSM1329823 c.2330_2352del23 p.S777fs*17 Deletion - Frameshift 7:43445502-43445524 + TCGA-AZ-4615-01 COSM453069 c.3943_3944delTT p.F1315fs*1 Deletion - Frameshift 7:43509045-43509046 + TCGA-18-3409-01 COSM746847 c.4533G>A p.V1511V Substitution - coding silent 7:43554614-43554614 + TCGA-D3-A51G-06 COSM3638744 c.593G>A p.G198E Substitution - Missense 7:43396851-43396851 + TCGA-D3-A3MV-06 COSM3638787 c.2185G>A p.E729K Substitution - Missense 7:43445357-43445357 + TCGA-C4-A0F7-01 COSM421450 c.1881G>A p.T627T Substitution - coding silent 7:43445053-43445053 + TCGA-BS-A0UJ-01 COSM1089790 c.3487T>A p.L1163M Substitution - Missense 7:43500748-43500748 + YURAY COSM4493308 c.412C>T p.R138W Substitution - Missense 7:43320694-43320694 + 02-P170 COSM4587405 c.1735G>T p.A579S Substitution - Missense 7:43444907-43444907 + 22 COSM5022507 c.605G>A p.R202Q Substitution - Missense 7:43396863-43396863 + I2L-P26-Tumor-Organoid COSM5358324 c.3083C>T p.T1028M Substitution - Missense 7:43469089-43469089 + SJRHB005_D COSM3738416 c.60C>T p.A20A Substitution - coding silent 7:43311795-43311795 + B81-1 COSM1755277 c.1731C>T p.S577S Substitution - coding silent 7:43444903-43444903 + CHC2098T COSM3982184 c.1211G>A p.G404D Substitution - Missense 7:43444383-43444383 + CSCC-16-T COSM4460814 c.117C>T p.L39L Substitution - coding silent 7:43311852-43311852 + LUAD-S01315 COSM345971 c.844G>C p.E282Q Substitution - Missense 7:43438045-43438045 + COLO678 COSM3230266 c.2150C>T p.T717M Substitution - Missense 7:43445322-43445322 + TCGA-DA-A1HV-06 COSM3638826 c.4470C>T p.I1490I Substitution - coding silent 7:43552296-43552296 + S02290 COSM5686825 c.3649G>A p.A1217T Substitution - Missense 7:43507154-43507154 + TCGA-66-2767-01 COSM1648002 c.21T>A p.S7R Substitution - Missense 7:43243926-43243926 + TCGA-D5-6930-01 COSM1450812 c.2742C>T p.G914G Substitution - coding silent 7:43463750-43463750 + sysucc-311T COSM3381937 c.3100-5C>T p.? Unknown 7:43479605-43479605 + TCGA-PJ-A5Z8-01 COSM3995583 c.1304C>A p.P435H Substitution - Missense 7:43444476-43444476 + 610184AML COSM1963680 c.2313C>T p.D771D Substitution - coding silent 7:43445485-43445485 + 473 COSM4438209 c.98G>A p.R33H Substitution - Missense 7:43311833-43311833 + TCGA-FD-A3N5-01 COSM1313088 c.631+1G>C p.? Unknown 7:43396890-43396890 + CSCC-18-T COSM4475977 c.2031C>T p.C677C Substitution - coding silent 7:43445203-43445203 + LUAD-S01331 COSM396616 c.3459G>T p.R1153R Substitution - coding silent 7:43500720-43500720 + TCGA-BH-A0DH-01 COSM453070 c.3943_3944delTT p.F1315fs*1 Deletion - Frameshift 7:43509045-43509046 + TCGA-E9-A1NA-01 COSM1488561 c.3682G>C p.E1228Q Substitution - Missense 7:43507187-43507187 + TCGA-D5-6930-01 COSM1450811 c.2742C>T p.G914G Substitution - coding silent 7:43463750-43463750 + LS411 COSM3230242 c.1704C>T p.H568H Substitution - coding silent 7:43444876-43444876 + YURAY COSM5407500 c.3674G>A p.R1225K Substitution - Missense 7:43507179-43507179 + CHC892T COSM3230268 c.2151G>A p.T717T Substitution - coding silent 7:43445323-43445323 + HCC139 COSM3663198 c.1103C>T p.P368L Substitution - Missense 7:43444275-43444275 + HCT-15 COSM1673141 c.4087A>G p.T1363A Substitution - Missense 7:43541230-43541230 + TCGA-HU-A4GT-01 COSM1209490 c.4354G>A p.V1452M Substitution - Missense 7:43550550-43550550 + RKO COSM1549817 c.2680A>G p.T894A Substitution - Missense 7:43463688-43463688 + TCGA-RA-A741-01 COSM1488557 c.1393G>T p.G465C Substitution - Missense 7:43444565-43444565 + AOCS-064-1-6 COSM4164335 c.2883C>T p.P961P Substitution - coding silent 7:43466538-43466538 + AOCS-064-3-3 COSM4164335 c.2883C>T p.P961P Substitution - coding silent 7:43466538-43466538 + C058 COSM746847 c.4533G>A p.V1511V Substitution - coding silent 7:43554614-43554614 + ESO-0950 COSM1254077 c.533C>T p.T178M Substitution - Missense 7:43360958-43360958 + TCGA-A3-3387-01 COSM485349 c.3938G>T p.G1313V Substitution - Missense 7:43509040-43509040 + HCC38 COSM23118 c.4689G>A p.G1563G Substitution - coding silent 7:43554770-43554770 + LUAD-NYU195 COSM371177 c.2201C>A p.S734Y Substitution - Missense 7:43445373-43445373 + ESO-0123 COSM1254074 c.2996G>A p.R999H Substitution - Missense 7:43469002-43469002 + TCGA-AH-6544-01 COSM1568982 c.2377G>A p.G793S Substitution - Missense 7:43445549-43445549 + CSCC-27-T COSM3638752 c.838G>A p.E280K Substitution - Missense 7:43438039-43438039 + TCGA-FW-A3R5-06 COSM3923631 c.278C>T p.S93F Substitution - Missense 7:43312013-43312013 + ESCC_142 COSM5643836 c.132C>A p.N44K Substitution - Missense 7:43311867-43311867 + TCGA-AX-A0J0-01 COSM1089797 c.4072C>A p.L1358I Substitution - Missense 7:43541215-43541215 + TCGA-AP-A059-01 COSM1089817 c.4645C>T p.R1549C Substitution - Missense 7:43554726-43554726 + TCGA-GN-A26C-01 COSM3638796 c.2826C>A p.N942K Substitution - Missense 7:43466481-43466481 + TCGA-D9-A3Z1-06 COSM3638749 c.837G>A p.L279L Substitution - coding silent 7:43438038-43438038 + CSCC-27-T COSM4547232 c.4185G>A p.K1395K Substitution - coding silent 7:43541935-43541935 + TCGA-BR-4184-01 COSM3881101 c.3637C>T p.Q1213* Substitution - Nonsense 7:43507142-43507142 + C086 COSM5532254 c.2512C>T p.R838* Substitution - Nonsense 7:43456308-43456308 + 103937 COSM94448 c.4627G>C p.E1543Q Substitution - Missense 7:43554708-43554708 + UM-SCC-2 COSM3230276 c.2199C>G p.F733L Substitution - Missense 7:43445371-43445371 + TCGA-F4-6808-01 COSM1450820 c.3694C>T p.R1232C Substitution - Missense 7:43507199-43507199 + CHC2098T COSM3982185 c.1211G>A p.G404D Substitution - Missense 7:43444383-43444383 + T1 COSM5618677 c.2550C>T p.H850H Substitution - coding silent 7:43456346-43456346 + CSCC-15-T COSM4528589 c.154G>A p.D52N Substitution - Missense 7:43311889-43311889 + PDA_090 COSM5003054 c.2974C>T p.R992W Substitution - Missense 7:43468980-43468980 + TCGA-AN-A046-01 COSM3832798 c.1294T>A p.S432T Substitution - Missense 7:43444466-43444466 + LS180 COSM3230282 c.2279C>T p.P760L Substitution - Missense 7:43445451-43445451 + CHC1720T COSM601340 c.273G>A p.G91G Substitution - coding silent 7:43312008-43312008 + CHC1207T COSM4800083 c.2582C>G p.T861R Substitution - Missense 7:43456378-43456378 + TCGA-BR-4371-01 COSM3230182 c.239C>T p.T80M Substitution - Missense 7:43311974-43311974 + TCGA-76-6661-01 COSM3412052 c.174C>T p.H58H Substitution - coding silent 7:43311909-43311909 + PD13755a COSM5798171 c.1377C>T p.A459A Substitution - coding silent 7:43444549-43444549 + Pat_53_A COSM1635308 c.832G>A p.V278M Substitution - Missense 7:43438033-43438033 + TCGA-EE-A2GE-06 COSM3638731 c.67G>A p.A23T Substitution - Missense 7:43311802-43311802 + ESO-859 COSM1239052 c.113C>T p.P38L Substitution - Missense 7:43311848-43311848 + PD11743a COSM5790145 c.3925A>C p.N1309H Substitution - Missense 7:43509027-43509027 + CHEWS013 COSM4587408 c.3125G>A p.R1042Q Substitution - Missense 7:43479635-43479635 + ESO-1154 COSM1254079 c.301G>A p.D101N Substitution - Missense 7:43312036-43312036 + 8033610 COSM3230265 c.2087C>T p.S696L Substitution - Missense 7:43445259-43445259 + CN-AML-CR-50-Dx COSM4417662 c.2904T>C p.H968H Substitution - coding silent 7:43466559-43466559 + TCGA-ED-A7PZ-01 COSM4917022 c.2192C>A p.T731K Substitution - Missense 7:43445364-43445364 + 824-01-1TD COSM5419076 c.416G>A p.G139D Substitution - Missense 7:43320698-43320698 + CSCC-27-T COSM3638751 c.838G>A p.E280K Substitution - Missense 7:43438039-43438039 + TCGA-CJ-4873-01 COSM3774286 c.1539T>C p.S513S Substitution - coding silent 7:43444711-43444711 + TCGA-A2-A04Q-01 COSM453075 c.4350C>T p.R1450R Substitution - coding silent 7:43550546-43550546 + KPOPBR-07-T COSM5964074 c.1051G>A p.E351K Substitution - Missense 7:43444223-43444223 + 8067242 COSM1450788 c.1726G>A p.G576S Substitution - Missense 7:43444898-43444898 + TCGA-AC-A2QH-01 COSM3832793 c.577G>A p.D193N Substitution - Missense 7:43396835-43396835 + YUVEME COSM3638755 c.1192G>A p.E398K Substitution - Missense 7:43444364-43444364 + S02274 COSM5682582 c.1675C>A p.H559N Substitution - Missense 7:43444847-43444847 + KM12 COSM3230335 c.2973A>G p.R991R Substitution - coding silent 7:43468979-43468979 + 2734_T COSM3950517 c.4308G>A p.K1436K Substitution - coding silent 7:43550504-43550504 + OSCC-GB_00020111 COSM3715739 c.95G>A p.R32Q Substitution - Missense 7:43311830-43311830 + SW837 COSM4656671 c.1423G>C p.D475H Substitution - Missense 7:43444595-43444595 + TCGA-FW-A3R5-06 COSM3923629 c.243C>T p.L81L Substitution - coding silent 7:43311978-43311978 + TCGA-D9-A3Z3-06 COSM3638808 c.3138C>T p.F1046F Substitution - coding silent 7:43479648-43479648 + C70 COSM421448 c.1930G>A p.A644T Substitution - Missense 7:43445102-43445102 + VLTS-4 COSM5702728 c.353-1G>C p.? Unknown 7:43320634-43320634 + CHC1704T COSM4803914 c.1929C>A p.G643G Substitution - coding silent 7:43445101-43445101 + YUKAT COSM3638818 c.3816G>A p.R1272R Substitution - coding silent 7:43508081-43508081 + TCGA-FJ-A3ZF-01 COSM1549821 c.1996G>A p.G666R Substitution - Missense 7:43445168-43445168 + TCGA-BR-8588-01 COSM3881094 c.2770G>T p.E924* Substitution - Nonsense 7:43463778-43463778 + 610184MDS COSM1963681 c.2313C>T p.D771D Substitution - coding silent 7:43445485-43445485 + TCGA-EI-6917-01 COSM79964 c.4173G>A p.L1391L Substitution - coding silent 7:43541923-43541923 + PT37 COSM5919329 c.2975G>A p.R992Q Substitution - Missense 7:43468981-43468981 + TCGA-D5-6928-01 COSM1450786 c.1409C>T p.A470V Substitution - Missense 7:43444581-43444581 + TCGA-33-4583-01 COSM746878 c.533C>A p.T178K Substitution - Missense 7:43360958-43360958 + TCGA-D3-A2JF-06 COSM1329825 c.1476G>A p.T492T Substitution - coding silent 7:43444648-43444648 + TCGA-BR-A4QL-01 COSM3881091 c.2668C>T p.R890* Substitution - Nonsense 7:43463676-43463676 + CSCC-49-T COSM4527226 c.1449G>A p.K483K Substitution - coding silent 7:43444621-43444621 + C058 COSM746846 c.4533G>A p.V1511V Substitution - coding silent 7:43554614-43554614 + TCGA-AP-A056-01 COSM1089761 c.1212T>C p.G404G Substitution - coding silent 7:43444384-43444384 + TCGA-D3-A51G-06 COSM3638743 c.593G>A p.G198E Substitution - Missense 7:43396851-43396851 + CSCC-7-T COSM4528041 c.1507G>A p.E503K Substitution - Missense 7:43444679-43444679 + 40M COSM5585410 c.1317G>A p.G439G Substitution - coding silent 7:43444489-43444489 + TCGA-AG-A002-01 COSM261253 c.4083C>T p.F1361F Substitution - coding silent 7:43541226-43541226 + 587376 COSM1209500 c.727G>A p.A243T Substitution - Missense 7:43407657-43407657 + PT23_1 COSM3638786 c.2162C>T p.S721F Substitution - Missense 7:43445334-43445334 + B89-4-Tumor COSM1755274 c.630A>T p.S210S Substitution - coding silent 7:43396888-43396888 + 274-01-3TD COSM1317192 c.3670C>T p.R1224* Substitution - Nonsense 7:43507175-43507175 + TCGA-AD-6901-01 COSM1450801 c.2501-1G>C p.? Unknown 7:43456296-43456296 + PD8621a COSM2150404 c.3170G>A p.R1057H Substitution - Missense 7:43479680-43479680 + 222 COSM1549821 c.1996G>A p.G666R Substitution - Missense 7:43445168-43445168 + LS180 COSM3230283 c.2279C>T p.P760L Substitution - Missense 7:43445451-43445451 + TCGA-AG-A002-01 COSM261252 c.3897C>A p.F1299L Substitution - Missense 7:43508999-43508999 + S0087 COSM5884549 c.3109G>A p.V1037M Substitution - Missense 7:43479619-43479619 + ESO-118 COSM1254081 c.1487G>C p.R496P Substitution - Missense 7:43444659-43444659 + CRC-06T COSM5457334 c.2021A>G p.D674G Substitution - Missense 7:43445193-43445193 + tumor_4160468 COSM3358142 c.4635C>T p.F1545F Substitution - coding silent 7:43554716-43554716 + TCGA-AZ-6598-01 COSM1450800 c.2321C>T p.A774V Substitution - Missense 7:43445493-43445493 + RK050_C COSM1635311 c.1279G>A p.D427N Substitution - Missense 7:43444451-43444451 + TCGA-AZ-6598-01 COSM1450799 c.2321C>T p.A774V Substitution - Missense 7:43445493-43445493 + TCGA-EE-A2GR-06 COSM3638734 c.98G>C p.R33P Substitution - Missense 7:43311833-43311833 + CHC2098T COSM3982184 c.1211G>A p.G404D Substitution - Missense 7:43444383-43444383 + C086 COSM5532248 c.1300G>A p.G434R Substitution - Missense 7:43444472-43444472 + ESO-0059 COSM1254071 c.653A>C p.K218T Substitution - Missense 7:43407583-43407583 + TCGA-D1-A103-01 COSM1089784 c.2653T>C p.Y885H Substitution - Missense 7:43463661-43463661 + VLTS-4 COSM5702729 c.353-1G>C p.? Unknown 7:43320634-43320634 + CSCC-60-T COSM4515429 c.1102_1103CC>TT p.P368F Substitution - Missense 7:43444274-43444275 + BON-1 COSM1450819 c.3694C>T p.R1232C Substitution - Missense 7:43507199-43507199 + CSCC-32-T COSM4542962 c.328G>A p.D110N Substitution - Missense 7:43312063-43312063 + TCGA-HU-A4GT-01 COSM3881116 c.4348C>T p.R1450C Substitution - Missense 7:43550544-43550544 + TCGA-B5-A11G-01 COSM1089772 c.1731C>G p.S577R Substitution - Missense 7:43444903-43444903 + ESCC_162 COSM5647927 c.404G>C p.G135A Substitution - Missense 7:43320686-43320686 + ME024T COSM226173 c.2087C>T p.S696L Substitution - Missense 7:43445259-43445259 + 0117_CRUK_PC_0117_T1_DNA COSM5424082 c.2871C>T p.F957F Substitution - coding silent 7:43466526-43466526 + TCGA-EE-A2GH-06 COSM3638785 c.2162C>T p.S721F Substitution - Missense 7:43445334-43445334 + 5 COSM4333361 c.1091T>A p.I364N Substitution - Missense 7:43444263-43444263 + PARBRK COSM5005520 c.4351G>A p.G1451S Substitution - Missense 7:43550547-43550547 + SKNEP1 COSM4587412 c.4374G>A p.A1458A Substitution - coding silent 7:43550570-43550570 + KM12 COSM3230334 c.2973A>G p.R991R Substitution - coding silent 7:43468979-43468979 + TCGA-EE-A29D-06 COSM3638784 c.2159C>T p.S720F Substitution - Missense 7:43445331-43445331 + T1844 COSM4689919 c.778G>A p.V260M Substitution - Missense 7:43407708-43407708 + TCGA-BP-4782-01 COSM485343 c.2676T>C p.I892I Substitution - coding silent 7:43463684-43463684 + TCGA-D1-A103-01 COSM1089782 c.2653T>C p.Y885H Substitution - Missense 7:43463661-43463661 + TCGA-AX-A05Z-01 COSM1089805 c.4224T>G p.T1408T Substitution - coding silent 7:43541974-43541974 + 6T COSM3734255 c.2098G>T p.A700S Substitution - Missense 7:43445270-43445270 + Pat_01_B COSM5872714 c.545C>T p.S182L Substitution - Missense 7:43360970-43360970 + PASLZM COSM4164335 c.2883C>T p.P961P Substitution - coding silent 7:43466538-43466538 + TCGA-AA-A010-01 COSM281662 c.1974C>T p.S658S Substitution - coding silent 7:43445146-43445146 + TCGA-18-4086-01 COSM746868 c.2014G>T p.G672C Substitution - Missense 7:43445186-43445186 + TCGA-BP-4782-01 COSM485344 c.2676T>C p.I892I Substitution - coding silent 7:43463684-43463684 + TCGA-EI-6917-01 COSM3230402 c.4173G>A p.L1391L Substitution - coding silent 7:43541923-43541923 + NOKSI COSM3230410 c.4343T>G p.V1448G Substitution - Missense 7:43550539-43550539 + KM12 COSM1673132 c.100C>T p.R34W Substitution - Missense 7:43311835-43311835 + TCGA-13-0906-01 COSM77839 c.1430A>G p.E477G Substitution - Missense 7:43444602-43444602 + RMS112_ COSM4987659 c.1727G>A p.G576D Substitution - Missense 7:43444899-43444899 + CSCC-31-T COSM4493478 c.4161C>A p.F1387L Substitution - Missense 7:43541911-43541911 + PT13 COSM4849327 c.271G>A p.G91R Substitution - Missense 7:43312006-43312006 + T17 COSM5345350 c.1335G>T p.V445V Substitution - coding silent 7:43444507-43444507 + J33_T COSM3950519 c.4365G>A p.Q1455Q Substitution - coding silent 7:43550561-43550561 + IGROV-1 COSM1673137 c.3044A>G p.D1015G Substitution - Missense 7:43469050-43469050 + TCGA-HU-A4GH-01 COSM3881103 c.3689A>C p.K1230T Substitution - Missense 7:43507194-43507194 + LS174T COSM3230282 c.2279C>T p.P760L Substitution - Missense 7:43445451-43445451 + TCGA-B1-A654-01 COSM4414405 c.2470T>C p.Y824H Substitution - Missense 7:43450899-43450899 + S15_post COSM5574669 c.1778A>T p.D593V Substitution - Missense 7:43444950-43444950 + TCGA-DA-A1I5-06 COSM3638774 c.1816G>A p.V606M Substitution - Missense 7:43444988-43444988 + TCGA-A6-6780-01 COSM1450831 c.4554G>A p.A1518A Substitution - coding silent 7:43554635-43554635 + TCGA-66-2757-01 COSM746866 c.2215G>T p.E739* Substitution - Nonsense 7:43445387-43445387 + TCGA-B5-A0JY-01 COSM1089746 c.407C>T p.S136F Substitution - Missense 7:43320689-43320689 + PDA_090 COSM5003055 c.2974C>T p.R992W Substitution - Missense 7:43468980-43468980 + D12 COSM5006847 c.15G>C p.L5L Substitution - coding silent 7:43243920-43243920 + KM12 COSM1673133 c.100C>T p.R34W Substitution - Missense 7:43311835-43311835 + TCGA-EE-A2GI-06 COSM3638819 c.3816G>A p.R1272R Substitution - coding silent 7:43508081-43508081 + sysucc-912T COSM5764963 c.1716C>T p.S572S Substitution - coding silent 7:43444888-43444888 + LUAD-S01357 COSM387754 c.1207G>T p.D403Y Substitution - Missense 7:43444379-43444379 + D28 COSM3638739 c.446C>T p.S149L Substitution - Missense 7:43320728-43320728 + TCGA-D3-A51E-06 COSM3638792 c.2544G>A p.V848V Substitution - coding silent 7:43456340-43456340 + 587376 COSM1209501 c.3749T>G p.I1250S Substitution - Missense 7:43507254-43507254 + YUVEME COSM3638756 c.1192G>A p.E398K Substitution - Missense 7:43444364-43444364 + TCGA-D3-A2JA-06 COSM3638778 c.1926T>C p.N642N Substitution - coding silent 7:43445098-43445098 + TCGA-FJ-A3ZE-01 COSM3778437 c.2678C>G p.A893G Substitution - Missense 7:43463686-43463686 + T578 COSM4689928 c.2139C>T p.F713F Substitution - coding silent 7:43445311-43445311 + PT37 COSM5919327 c.1667C>T p.P556L Substitution - Missense 7:43444839-43444839 + sysucc-1240T COSM5766027 c.1829C>T p.P610L Substitution - Missense 7:43445001-43445001 + TCGA-D9-A6EC-06 COSM4406291 c.3713T>G p.L1238R Substitution - Missense 7:43507218-43507218 + TCGA-EE-A2GI-06 COSM3638818 c.3816G>A p.R1272R Substitution - coding silent 7:43508081-43508081 + YUDON COSM5407494 c.3055G>A p.E1019K Substitution - Missense 7:43469061-43469061 + YUSCA COSM3358143 c.4635C>T p.F1545F Substitution - coding silent 7:43554716-43554716 + 2492703 COSM4362415 c.1608C>T p.S536S Substitution - coding silent 7:43444780-43444780 + TCGA-HU-A4GT-01 COSM1209491 c.4354G>A p.V1452M Substitution - Missense 7:43550550-43550550 + sysucc-311T COSM5467140 c.2238C>T p.F746F Substitution - coding silent 7:43445410-43445410 + LP6005690-DNA_A02 COSM4410249 c.2058G>A p.S686S Substitution - coding silent 7:43445230-43445230 + HCC28T COSM1622872 c.79A>G p.R27G Substitution - Missense 7:43311814-43311814 + TCGA-AZ-5407-01 COSM3698402 c.1969G>A p.E657K Substitution - Missense 7:43445141-43445141 + PD6599a COSM3719839 c.2650C>T p.R884W Substitution - Missense 7:43456446-43456446 + TCGA-EE-A2GC-06 COSM3638801 c.3011G>A p.R1004Q Substitution - Missense 7:43469017-43469017 + TCGA-CG-4438-01 COSM3881105 c.3799G>C p.V1267L Substitution - Missense 7:43508064-43508064 + TCGA-FW-A3R5-06 COSM3923630 c.243C>T p.L81L Substitution - coding silent 7:43311978-43311978 + YUKAT COSM5407498 c.3508G>A p.V1170I Substitution - Missense 7:43500769-43500769 + TCGA-F5-6814-01 COSM1673143 c.4486C>T p.R1496W Substitution - Missense 7:43552312-43552312 + PD3849a COSM161499 c.2995C>T p.R999C Substitution - Missense 7:43469001-43469001 + TCGA-BQ-7061-01 COSM3995585 c.4227T>A p.V1409V Substitution - coding silent 7:43541977-43541977 + TCGA-G3-A25S-01 COSM4926807 c.2811A>G p.S937S Substitution - coding silent 7:43466466-43466466 + TCGA-BR-4184-01 COSM3881119 c.4617C>T p.S1539S Substitution - coding silent 7:43554698-43554698 + TCGA-HU-A4GQ-01 COSM3881110 c.3847A>G p.T1283A Substitution - Missense 7:43508112-43508112 + TCGA-EE-A29E-06 COSM3638806 c.3054G>A p.L1018L Substitution - coding silent 7:43469060-43469060 + 587376 COSM1209499 c.727G>A p.A243T Substitution - Missense 7:43407657-43407657 + T207 COSM4689921 c.1863delG p.A623fs*189 Deletion - Frameshift 7:43445035-43445035 + HT115 COSM3230373 c.3921C>A p.L1307L Substitution - coding silent 7:43509023-43509023 + HCC2998 COSM1673144 c.4486C>T p.R1496W Substitution - Missense 7:43552312-43552312 + BD236T COSM5518750 c.2780A>G p.Q927R Substitution - Missense 7:43463788-43463788 + TCGA-D1-A15X-01 COSM1089764 c.1285G>C p.G429R Substitution - Missense 7:43444457-43444457 + TCGA-FW-A3R5-06 COSM23118 c.4689G>A p.G1563G Substitution - coding silent 7:43554770-43554770 + A9 COSM5351420 c.3801G>T p.V1267V Substitution - coding silent 7:43508066-43508066 + TCGA-CH-5772-01 COSM1131582 c.2211C>T p.D737D Substitution - coding silent 7:43445383-43445383 + 8013912 COSM108673 c.1141C>T p.R381W Substitution - Missense 7:43444313-43444313 + TCGA-EE-A3J8-06 COSM3638815 c.3763C>T p.R1255C Substitution - Missense 7:43508028-43508028 + 3N22-VS-3T22 COSM4979522 c.2451G>A p.L817L Substitution - coding silent 7:43450880-43450880 + T96 COSM3638814 c.3763C>T p.R1255C Substitution - Missense 7:43508028-43508028 + 4 COSM3734801 c.4640delC p.L1548fs*12 Deletion - Frameshift 7:43554721-43554721 + LB2518-MEL COSM23131 c.2513G>A p.R838Q Substitution - Missense 7:43456309-43456309 + 1_PRE-TREATMENT COSM1719044 c.2513G>A p.R838Q Substitution - Missense 7:43456309-43456309 + TCGA-EE-A2GC-06 COSM3638766 c.1529G>A p.G510E Substitution - Missense 7:43444701-43444701 + sysucc-731T COSM3230296 c.2352G>A p.P784P Substitution - coding silent 7:43445524-43445524 + BD114T COSM5503233 c.2734G>C p.G912R Substitution - Missense 7:43463742-43463742 + CSCC-49-T COSM4493308 c.412C>T p.R138W Substitution - Missense 7:43320694-43320694 + T3535 COSM4689917 c.598G>T p.G200* Substitution - Nonsense 7:43396856-43396856 + ESCC_BICR_009T COSM4689928 c.2139C>T p.F713F Substitution - coding silent 7:43445311-43445311 + TCGA-RP-A693-06 COSM1089754 c.604C>T p.R202W Substitution - Missense 7:43396862-43396862 + TCGA-FS-A4F5-06 COSM3638811 c.3215G>A p.R1072Q Substitution - Missense 7:43479725-43479725 + TCGA-EE-A29S-06 COSM3638779 c.1927G>A p.G643S Substitution - Missense 7:43445099-43445099 + HCC2998 COSM1673145 c.4570A>C p.N1524H Substitution - Missense 7:43554651-43554651 + I2L-P19Ta-Tumor-Organoid COSM5358122 c.1283A>C p.Q428P Substitution - Missense 7:43444455-43444455 + 2492701 COSM4362415 c.1608C>T p.S536S Substitution - coding silent 7:43444780-43444780 + TCGA-02-2486-01 COSM3412054 c.367G>A p.E123K Substitution - Missense 7:43320649-43320649 + CA1 COSM1166086 c.1670G>A p.R557Q Substitution - Missense 7:43444842-43444842 + TCGA-D3-A5GO-06 COSM3638781 c.2102C>T p.S701L Substitution - Missense 7:43445274-43445274 + TCGA-DB-A64W-01 COSM3929044 c.1095G>A p.Q365Q Substitution - coding silent 7:43444267-43444267 + TCGA-CA-6717-01 COSM1450783 c.873C>T p.R291R Substitution - coding silent 7:43438074-43438074 + KM12 COSM1673133 c.100C>T p.R34W Substitution - Missense 7:43311835-43311835 + CSCC-44-T COSM4490585 c.3662C>T p.S1221F Substitution - Missense 7:43507167-43507167 + TCGA-FS-A4FC-06 COSM3638817 c.3799G>A p.V1267M Substitution - Missense 7:43508064-43508064 + TCGA-D5-6928-01 COSM1450785 c.1409C>T p.A470V Substitution - Missense 7:43444581-43444581 + TCGA-G4-6586-01 COSM1450796 c.1815G>A p.T605T Substitution - coding silent 7:43444987-43444987 + SNU-175 COSM3230387 c.4033G>T p.G1345C Substitution - Missense 7:43541176-43541176 + TCGA-AP-A059-01 COSM1089758 c.905C>T p.S302L Substitution - Missense 7:43438106-43438106 + TCGA-D5-6532-01 COSM1450794 c.1785G>A p.S595S Substitution - coding silent 7:43444957-43444957 + TCGA-BT-A20W-01 COSM421446 c.2997C>G p.R999R Substitution - coding silent 7:43469003-43469003 + CAL27 COSM3230409 c.4343T>G p.V1448G Substitution - Missense 7:43550539-43550539 + TCGA-32-5222-01 COSM3412060 c.1632G>A p.T544T Substitution - coding silent 7:43444804-43444804 + PD3945a COSM3396814 c.521C>T p.T174I Substitution - Missense 7:43360946-43360946 + 471 COSM4437877 c.700C>T p.Q234* Substitution - Nonsense 7:43407630-43407630 + sysucc-880T COSM5463633 c.3099G>T p.K1033N Substitution - Missense 7:43469105-43469105 + S02139 COSM5674607 c.521C>G p.T174S Substitution - Missense 7:43360946-43360946 + PT55 COSM5942133 c.2735G>A p.G912E Substitution - Missense 7:43463743-43463743 + TCGA-EE-A3JI-06 COSM3638746 c.680C>T p.P227L Substitution - Missense 7:43407610-43407610 + YUKAT COSM3638819 c.3816G>A p.R1272R Substitution - coding silent 7:43508081-43508081 + 587222 COSM281663 c.3812C>T p.S1271L Substitution - Missense 7:43508077-43508077 + TCGA-CJ-4872-01 COSM601304 c.3330A>G p.S1110S Substitution - coding silent 7:43492170-43492170 + TCGA-BH-A1FM-01 COSM1488559 c.2861C>T p.A954V Substitution - Missense 7:43466516-43466516 + S02242 COSM5677489 c.1751G>A p.G584D Substitution - Missense 7:43444923-43444923 + C089 COSM5542997 c.1277G>A p.G426E Substitution - Missense 7:43444449-43444449 + TCGA-D3-A2JF-06 COSM1329824 c.1476G>A p.T492T Substitution - coding silent 7:43444648-43444648 + CCC60T COSM3663195 c.97C>T p.R33C Substitution - Missense 7:43311832-43311832 + TCGA-PJ-A5Z8-01 COSM3995584 c.1304C>A p.P435H Substitution - Missense 7:43444476-43444476 + TCGA-CD-A48C-01 COSM3881080 c.1142G>A p.R381Q Substitution - Missense 7:43444314-43444314 + 8035834 COSM4407736 c.2770G>A p.E924K Substitution - Missense 7:43463778-43463778 + MB_Exm645 COSM216065 c.4051G>A p.A1351T Substitution - Missense 7:43541194-43541194 + ESO-931 COSM1254088 c.4176G>A p.Q1392Q Substitution - coding silent 7:43541926-43541926 + TCGA-AA-3872-01 COSM296360 c.2304G>A p.P768P Substitution - coding silent 7:43445476-43445476 + TCGA-AZ-4315-01 COSM1450778 c.664T>C p.F222L Substitution - Missense 7:43407594-43407594 + TCGA-D3-A3MV-06 COSM3638788 c.2185G>A p.E729K Substitution - Missense 7:43445357-43445357 + TCGA-AM-5820-01 COSM3762672 c.3228T>C p.A1076A Substitution - coding silent 7:43479738-43479738 + HCC021T COSM5815544 c.960C>G p.S320R Substitution - Missense 7:43442544-43442544 + ESCC_BICR_048T COSM453059 c.181G>A p.V61I Substitution - Missense 7:43311916-43311916 + 587354 COSM1209494 c.886C>T p.R296C Substitution - Missense 7:43438087-43438087 + AOCS-064-3-3 COSM4164334 c.2883C>T p.P961P Substitution - coding silent 7:43466538-43466538 + I2L-P9-Tumor-Biopsy COSM5358542 c.118C>T p.R40* Substitution - Nonsense 7:43311853-43311853 + TCGA-DU-6403-01 COSM3929048 c.4248+1G>C p.? Unknown 7:43541999-43541999 + TCGA-JW-A5VJ-01 COSM4818487 c.1249G>T p.E417* Substitution - Nonsense 7:43444421-43444421 + T1764 COSM4689933 c.2413C>T p.L805F Substitution - Missense 7:43450842-43450842 + TCGA-CJ-4872-01 COSM601305 c.3330A>G p.S1110S Substitution - coding silent 7:43492170-43492170 + QC2-20-T2 COSM5652811 c.3813G>A p.S1271S Substitution - coding silent 7:43508078-43508078 + TCGA-KK-A6E6-01 COSM1450820 c.3694C>T p.R1232C Substitution - Missense 7:43507199-43507199 + LS513 COSM3230248 c.1756G>A p.E586K Substitution - Missense 7:43444928-43444928 + TCGA-BF-A1Q0-01 COSM3638820 c.3870G>A p.L1290L Substitution - coding silent 7:43508972-43508972 + TCGA-BR-8369-01 COSM3881078 c.1046-1G>T p.? Unknown 7:43444217-43444217 + 587332 COSM1209496 c.2692G>A p.E898K Substitution - Missense 7:43463700-43463700 + TCGA-ER-A19A-06 COSM3638741 c.592G>A p.G198R Substitution - Missense 7:43396850-43396850 + NOKSI COSM4595577 c.2302C>A p.P768T Substitution - Missense 7:43445474-43445474 + TCGA-F1-6874-01 COSM3881087 c.2338G>A p.V780M Substitution - Missense 7:43445510-43445510 + TCGA-BR-4257-01 COSM3881072 c.877A>G p.I293V Substitution - Missense 7:43438078-43438078 + TCGA-D3-A3MU-06 COSM3638755 c.1192G>A p.E398K Substitution - Missense 7:43444364-43444364 + CSCC-7-T COSM4522668 c.1173G>A p.W391* Substitution - Nonsense 7:43444345-43444345 + TCGA-HT-8564-01 COSM3929047 c.1962C>T p.T654T Substitution - coding silent 7:43445134-43445134 + LUAD-YINHD COSM351615 c.202A>T p.S68C Substitution - Missense 7:43311937-43311937 + Pat_01_B COSM5872713 c.545C>T p.S182L Substitution - Missense 7:43360970-43360970 + CRC-31T COSM1963681 c.2313C>T p.D771D Substitution - coding silent 7:43445485-43445485 + CLL044 COSM1292504 c.1249G>A p.E417K Substitution - Missense 7:43444421-43444421 + TCGA-B5-A11G-01 COSM1089770 c.1731C>G p.S577R Substitution - Missense 7:43444903-43444903 + RK308_C01 COSM3768374 c.4604C>T p.T1535M Substitution - Missense 7:43554685-43554685 + TCGA-F1-6874-01 COSM3881088 c.2338G>A p.V780M Substitution - Missense 7:43445510-43445510 + SCC-25 COSM3230409 c.4343T>G p.V1448G Substitution - Missense 7:43550539-43550539 + YURAY COSM5407501 c.3674G>A p.R1225K Substitution - Missense 7:43507179-43507179 + T3049 COSM4689929 c.2153G>A p.R718H Substitution - Missense 7:43445325-43445325 + CHC1207T COSM4800083 c.2582C>G p.T861R Substitution - Missense 7:43456378-43456378 + TCGA-F4-6856-01 COSM1450780 c.797C>T p.A266V Substitution - Missense 7:43407727-43407727 + TCGA-EE-A29D-06 COSM3638813 c.3725G>A p.G1242E Substitution - Missense 7:43507230-43507230 + ESO-0950 COSM1254076 c.533C>T p.T178M Substitution - Missense 7:43360958-43360958 + PCSI_0090_Pa_X COSM3381937 c.3100-5C>T p.? Unknown 7:43479605-43479605 + TCGA-EE-A182-06 COSM3638768 c.1653G>A p.G551G Substitution - coding silent 7:43444825-43444825 + ESCC_94 COSM5637448 c.4218T>A p.T1406T Substitution - coding silent 7:43541968-43541968 + TCGA-AA-A00N-01 COSM249065 c.3215G>A p.R1072Q Substitution - Missense 7:43479725-43479725 + TCGA-BS-A0UV-01 COSM1089755 c.741T>C p.H247H Substitution - coding silent 7:43407671-43407671 + ESO-536 COSM1254086 c.2069C>T p.T690M Substitution - Missense 7:43445241-43445241 + TCGA-BR-A4QL-01 COSM3881092 c.2668C>T p.R890* Substitution - Nonsense 7:43463676-43463676 + TCGA-FU-A3TX-01 COSM4849327 c.271G>A p.G91R Substitution - Missense 7:43312006-43312006 + TCGA-EE-A2GR-06 COSM3638758 c.1306G>T p.E436* Substitution - Nonsense 7:43444478-43444478 + TCGA-AB-2862-03 COSM1318981 c.3815G>A p.R1272Q Substitution - Missense 7:43508080-43508080 + CHC1207T COSM4800084 c.2582C>G p.T861R Substitution - Missense 7:43456378-43456378 + Pat_45_B COSM5407495 c.3055G>A p.E1019K Substitution - Missense 7:43469061-43469061 + TCGA-EE-A29D-06 COSM3638783 c.2159C>T p.S720F Substitution - Missense 7:43445331-43445331 + DM26 COSM5609079 c.3023A>G p.N1008S Substitution - Missense 7:43469029-43469029 + DLD1 COSM3230262 c.2024C>T p.A675V Substitution - Missense 7:43445196-43445196 + TCGA-06-2563-01 COSM2152836 c.2296G>A p.A766T Substitution - Missense 7:43445468-43445468 + sysucc-880T COSM5463634 c.3099G>T p.K1033N Substitution - Missense 7:43469105-43469105 + SW837 COSM4656670 c.1423G>C p.D475H Substitution - Missense 7:43444595-43444595 + TCGA-EE-A29E-06 COSM23131 c.2513G>A p.R838Q Substitution - Missense 7:43456309-43456309 + TCGA-BF-A1Q0-01 COSM3638821 c.3870G>A p.L1290L Substitution - coding silent 7:43508972-43508972 + 587354 COSM1209493 c.886C>T p.R296C Substitution - Missense 7:43438087-43438087 + D15 COSM5006626 c.4553C>T p.A1518V Substitution - Missense 7:43554634-43554634 + TCGA-B1-A654-01 COSM4414406 c.2470T>C p.Y824H Substitution - Missense 7:43450899-43450899 + TCGA-A5-A0GH-01 COSM1089778 c.2217G>C p.E739D Substitution - Missense 7:43445389-43445389 + TCGA-AP-A0LM-01 COSM1089820 c.4663C>T p.R1555W Substitution - Missense 7:43554744-43554744 + TCGA-FS-A1Z3-06 COSM3638764 c.1506G>A p.E502E Substitution - coding silent 7:43444678-43444678 + ESO-0292 COSM1241247 c.3887C>T p.S1296L Substitution - Missense 7:43508989-43508989 + PT37 COSM5919330 c.2975G>A p.R992Q Substitution - Missense 7:43468981-43468981 + TCGA-B5-A0K9-01 COSM1089793 c.3753-2A>G p.? Unknown 7:43508016-43508016 + TCGA-AP-A0LM-01 COSM1089751 c.556-1G>T p.? Unknown 7:43396813-43396813 + ESO-717 COSM1166085 c.1670G>A p.R557Q Substitution - Missense 7:43444842-43444842 + B111 COSM1755278 c.1804G>A p.E602K Substitution - Missense 7:43444976-43444976 + TCGA-AZ-4615-01 COSM3698407 c.4783A>G p.T1595A Substitution - Missense 7:43561888-43561888 + 61 COSM5737910 c.4324C>T p.R1442C Substitution - Missense 7:43550520-43550520 + PCSI_0069_Pa_X COSM3381936 c.2332G>A p.G778R Substitution - Missense 7:43445504-43445504 + ML4 COSM1165570 c.3596G>A p.R1199Q Substitution - Missense 7:43501287-43501287 + TCGA-AN-A046-01 COSM3832801 c.2816C>A p.S939Y Substitution - Missense 7:43466471-43466471 + T1743 COSM4689925 c.2128G>A p.G710S Substitution - Missense 7:43445300-43445300 + HCC127T COSM5822716 c.3934T>A p.Y1312N Substitution - Missense 7:43509036-43509036 + C086 COSM5532253 c.2512C>T p.R838* Substitution - Nonsense 7:43456308-43456308 + YURAY COSM5407493 c.1850G>A p.R617K Substitution - Missense 7:43445022-43445022 + TCGA-66-2754-01 COSM746863 c.2322C>A p.A774A Substitution - coding silent 7:43445494-43445494 + TCGA-A2-A3XU-01 COSM1450796 c.1815G>A p.T605T Substitution - coding silent 7:43444987-43444987 + HCC2998 COSM1673145 c.4570A>C p.N1524H Substitution - Missense 7:43554651-43554651 + YURAY COSM5407492 c.1850G>A p.R617K Substitution - Missense 7:43445022-43445022 + LC_S12 COSM1187288 c.2356G>A p.G786S Substitution - Missense 7:43445528-43445528 + CSCC-55-T COSM4514649 c.982C>T p.P328S Substitution - Missense 7:43442566-43442566 + TCGA-AA-A017-01 COSM299677 c.3888G>A p.S1296S Substitution - coding silent 7:43508990-43508990 + PTC-53C COSM3230410 c.4343T>G p.V1448G Substitution - Missense 7:43550539-43550539 + TCGA-EB-A430-01 COSM3638804 c.3013G>A p.D1005N Substitution - Missense 7:43469019-43469019 + TCGA-BR-4363-01 COSM3881099 c.3371G>A p.R1124H Substitution - Missense 7:43493114-43493114 + SS6003309 COSM3982185 c.1211G>A p.G404D Substitution - Missense 7:43444383-43444383 + T3306 COSM4689931 c.2205G>A p.S735S Substitution - coding silent 7:43445377-43445377 + CHC1207T COSM4800084 c.2582C>G p.T861R Substitution - Missense 7:43456378-43456378 + PT21_1 COSM5900904 c.1769C>T p.T590I Substitution - Missense 7:43444941-43444941 + RMS112_ COSM4987660 c.1727G>A p.G576D Substitution - Missense 7:43444899-43444899 + LUAD-B01811 COSM334777 c.1874C>A p.P625Q Substitution - Missense 7:43445046-43445046 + PCSI_0240_Pa_P_526 COSM4808590 c.2983C>T p.R995C Substitution - Missense 7:43468989-43468989 + TCGA-D3-A1Q4-06 COSM3638828 c.4644C>T p.L1548L Substitution - coding silent 7:43554725-43554725 + LUAD-RT-S01831 COSM384506 c.580G>A p.E194K Substitution - Missense 7:43396838-43396838 + LUAD-F00162 COSM366648 c.2456C>G p.P819R Substitution - Missense 7:43450885-43450885 + TCGA-BH-A18P-01 COSM453072 c.4089G>C p.T1363T Substitution - coding silent 7:43541232-43541232 + TCGA-30-1856-01 COSM1329825 c.1476G>A p.T492T Substitution - coding silent 7:43444648-43444648 + TCGA-EA-A439-01 COSM3230226 c.1358C>T p.P453L Substitution - Missense 7:43444530-43444530 + 8035834 COSM4407737 c.2770G>A p.E924K Substitution - Missense 7:43463778-43463778 + CSCC-62-T COSM4545749 c.3856G>A p.G1286R Substitution - Missense 7:43508121-43508121 + Sample_1 COSM4997690 c.1177C>A p.P393T Substitution - Missense 7:43444349-43444349 + CSCC-60-T COSM4515428 c.1102_1103CC>TT p.P368F Substitution - Missense 7:43444274-43444275 + TCGA-FJ-A3ZF-01 COSM1549820 c.1996G>A p.G666R Substitution - Missense 7:43445168-43445168 + HT55 COSM3230213 c.841A>T p.I281F Substitution - Missense 7:43438042-43438042 + HCT8 COSM3230262 c.2024C>T p.A675V Substitution - Missense 7:43445196-43445196 + TCGA-AX-A05Z-01 COSM1089818 c.4663C>T p.R1555W Substitution - Missense 7:43554744-43554744 + SNUH_G76_S1 COSM4417080 c.2805A>G p.E935E Substitution - coding silent 7:43466460-43466460 + 2492702 COSM4362415 c.1608C>T p.S536S Substitution - coding silent 7:43444780-43444780 + TCGA-66-2767-01 COSM746884 c.21T>A p.S7R Substitution - Missense 7:43243926-43243926 + TCGA-G4-6315-01 COSM1450833 c.4562G>A p.R1521H Substitution - Missense 7:43554643-43554643 + CHC1720T COSM601341 c.273G>A p.G91G Substitution - coding silent 7:43312008-43312008 + TCGA-EE-A2GR-06 COSM3638757 c.1306G>T p.E436* Substitution - Nonsense 7:43444478-43444478 + SJRHB005 COSM3738416 c.60C>T p.A20A Substitution - coding silent 7:43311795-43311795 + PT46 COSM5928934 c.3528T>G p.F1176L Substitution - Missense 7:43501219-43501219 + YUOTHO COSM5407491 c.1270G>A p.E424K Substitution - Missense 7:43444442-43444442 + CSCC-49-T COSM4527225 c.1449G>A p.K483K Substitution - coding silent 7:43444621-43444621 + 473 COSM4438210 c.98G>A p.R33H Substitution - Missense 7:43311833-43311833 + CSCC-37-T COSM4490602 c.3665C>T p.P1222L Substitution - Missense 7:43507170-43507170 + SK-MEL-2 COSM1673140 c.3917A>G p.E1306G Substitution - Missense 7:43509019-43509019 + CSCC-20-T COSM4537940 c.2482G>A p.D828N Substitution - Missense 7:43450911-43450911 + LUAD-RT-S01721 COSM380654 c.2023G>A p.A675T Substitution - Missense 7:43445195-43445195 + TCGA-AB-2901-03 COSM1318979 c.4464G>A p.A1488A Substitution - coding silent 7:43552290-43552290 + S01578 COSM5670675 c.3138C>A p.F1046L Substitution - Missense 7:43479648-43479648 + TCGA-85-6560-01 COSM746849 c.3862G>T p.E1288* Substitution - Nonsense 7:43508127-43508127 + RK308_C01 COSM94446 c.4604C>T p.T1535M Substitution - Missense 7:43554685-43554685 + TCGA-CD-A4MI-01 COSM3881075 c.937G>A p.A313T Substitution - Missense 7:43438138-43438138 + BD231T COSM4689922 c.1900G>A p.G634R Substitution - Missense 7:43445072-43445072 + S00842 COSM5662310 c.193C>T p.R65C Substitution - Missense 7:43311928-43311928 + S02285 COSM5684985 c.1552G>T p.G518* Substitution - Nonsense 7:43444724-43444724 + 222 COSM1549820 c.1996G>A p.G666R Substitution - Missense 7:43445168-43445168 + T1764 COSM4689934 c.2413C>T p.L805F Substitution - Missense 7:43450842-43450842 + Pat_16_A COSM5872716 c.2245G>A p.V749I Substitution - Missense 7:43445417-43445417 + Pat_08_B COSM5872711 c.266C>T p.S89F Substitution - Missense 7:43312001-43312001 + TCGA-FW-A3R5-06 COSM1450836 c.4627G>A p.E1543K Substitution - Missense 7:43554708-43554708 + DLD1 COSM3230261 c.2024C>T p.A675V Substitution - Missense 7:43445196-43445196 + C70 COSM421447 c.1930G>A p.A644T Substitution - Missense 7:43445102-43445102 + TCGA-EE-A29S-06 COSM3638780 c.1927G>A p.G643S Substitution - Missense 7:43445099-43445099 + TCGA-EE-A2GC-06 COSM3638802 c.3011G>A p.R1004Q Substitution - Missense 7:43469017-43469017 + TCGA-CG-5733-01 COSM3881084 c.2042C>T p.S681L Substitution - Missense 7:43445214-43445214 + ESCC_76 COSM5635254 c.1375G>C p.A459P Substitution - Missense 7:43444547-43444547 + TCGA-G4-6306-01 COSM1450790 c.1734G>A p.A578A Substitution - coding silent 7:43444906-43444906 + I2L-P6-Tumor-Biopsy COSM5358367 c.3403C>T p.R1135C Substitution - Missense 7:43493146-43493146 + TCGA-AP-A059-01 COSM1089815 c.4645C>T p.R1549C Substitution - Missense 7:43554726-43554726 + PD8610a COSM5789192 c.961T>A p.Y321N Substitution - Missense 7:43442545-43442545 + SC_9047 COSM5567302 c.366C>T p.S122S Substitution - coding silent 7:43320648-43320648 + HCT15 COSM347353 c.1958G>T p.S653I Substitution - Missense 7:43445130-43445130 + 10-276 COSM3736865 c.2971C>T p.R991* Substitution - Nonsense 7:43468977-43468977 + BD231T COSM4689923 c.1900G>A p.G634R Substitution - Missense 7:43445072-43445072 + LUAD-E00934 COSM393782 c.1575G>C p.R525R Substitution - coding silent 7:43444747-43444747 + NCI-H2087 COSM23132 c.2526C>A p.H842Q Substitution - Missense 7:43456322-43456322 + SH-4885 COSM1755277 c.1731C>T p.S577S Substitution - coding silent 7:43444903-43444903 + CCC60 COSM3663195 c.97C>T p.R33C Substitution - Missense 7:43311832-43311832 + TCGA-CD-A4MI-01 COSM3881076 c.937G>A p.A313T Substitution - Missense 7:43438138-43438138 + S01578 COSM5670674 c.3138C>A p.F1046L Substitution - Missense 7:43479648-43479648 + PD3945a COSM3396815 c.521C>T p.T174I Substitution - Missense 7:43360946-43360946 + TCGA-BR-4361-01 COSM3230257 c.1950G>A p.T650T Substitution - coding silent 7:43445122-43445122 + 2T COSM3715739 c.95G>A p.R32Q Substitution - Missense 7:43311830-43311830 + Pat_08_A COSM5872712 c.266C>T p.S89F Substitution - Missense 7:43312001-43312001 + DLD1 COSM347353 c.1958G>T p.S653I Substitution - Missense 7:43445130-43445130 + C089 COSM5542998 c.1277G>A p.G426E Substitution - Missense 7:43444449-43444449 + PT23_1 COSM3638785 c.2162C>T p.S721F Substitution - Missense 7:43445334-43445334 + TCGA-D1-A101-01 COSM1089814 c.4594C>T p.Q1532* Substitution - Nonsense 7:43554675-43554675 + HCT15 COSM1673134 c.1958G>T p.S653I Substitution - Missense 7:43445130-43445130 + C0089T COSM4155749 c.525C>T p.P175P Substitution - coding silent 7:43360950-43360950 + YURAY COSM5407503 c.4274G>A p.G1425E Substitution - Missense 7:43550470-43550470 + LUAD-F00121 COSM365874 c.1996G>T p.G666W Substitution - Missense 7:43445168-43445168 + TCGA-D3-A5GO-06 COSM3923633 c.2123A>C p.Y708S Substitution - Missense 7:43445295-43445295 + NCI-H460 COSM1196934 c.358G>T p.V120F Substitution - Missense 7:43320640-43320640 + SNU-C2B COSM3230377 c.3955G>A p.A1319T Substitution - Missense 7:43509057-43509057 + YUPAER COSM5407506 c.4735G>A p.D1579N Substitution - Missense 7:43561840-43561840 + T207 COSM4689920 c.1863delG p.A623fs*189 Deletion - Frameshift 7:43445035-43445035 + TCGA-D3-A51E-06 COSM3638791 c.2544G>A p.V848V Substitution - coding silent 7:43456340-43456340 + TCGA-BP-5008-01 COSM485340 c.517A>T p.T173S Substitution - Missense 7:43360942-43360942 + TCGA-BG-A18B-01 COSM1089742 c.323C>T p.A108V Substitution - Missense 7:43312058-43312058 + ASHPC_0030_Pa_P COSM1450812 c.2742C>T p.G914G Substitution - coding silent 7:43463750-43463750 + TCGA-FP-A4BE-01 COSM3881098 c.3066G>A p.R1022R Substitution - coding silent 7:43469072-43469072 + TCGA-CD-5801-01 COSM3881115 c.4129T>G p.L1377V Substitution - Missense 7:43541879-43541879 + CSCC-44-T COSM4533769 c.2013G>A p.E671E Substitution - coding silent 7:43445185-43445185 + TCGA-60-2708-01 COSM746851 c.3728T>A p.F1243Y Substitution - Missense 7:43507233-43507233 + SC_9060 COSM5559753 c.1698G>T p.L566L Substitution - coding silent 7:43444870-43444870 + TCGA-AB-2925-03 COSM1318977 c.4754C>T p.S1585L Substitution - Missense 7:43561859-43561859 + CSCC-4-T COSM4522149 c.1149G>A p.E383E Substitution - coding silent 7:43444321-43444321 + T2991 COSM1254070 c.653A>C p.K218T Substitution - Missense 7:43407583-43407583 + 8035749 COSM4781614 c.3766C>T p.R1256W Substitution - Missense 7:43508031-43508031 + sysucc-1317T COSM5450384 c.3437+10G>A p.? Unknown 7:43493190-43493190 + LOVO COSM4362422 c.3890G>A p.R1297Q Substitution - Missense 7:43508992-43508992 + HCC38 COSM23118 c.4689G>A p.G1563G Substitution - coding silent 7:43554770-43554770 + TCGA-A7-A0CE-01 COSM453067 c.3746A>T p.K1249I Substitution - Missense 7:43507251-43507251 + CCC60T COSM3663196 c.97C>T p.R33C Substitution - Missense 7:43311832-43311832 + TCGA-GF-A6C9-06 COSM4437877 c.700C>T p.Q234* Substitution - Nonsense 7:43407630-43407630 + BD114T COSM5503234 c.2734G>C p.G912R Substitution - Missense 7:43463742-43463742 + 13542 COSM746851 c.3728T>A p.F1243Y Substitution - Missense 7:43507233-43507233 + TCGA-D9-A3Z1-06 COSM3638750 c.837G>A p.L279L Substitution - coding silent 7:43438038-43438038 + ESO-003 COSM1254069 c.4644delC p.R1549fs*11 Deletion - Frameshift 7:43554725-43554725 + CSCC-16-T COSM4455108 c.671A>G p.N224S Substitution - Missense 7:43407601-43407601 + TCGA-BR-4357-01 COSM3881074 c.936C>T p.H312H Substitution - coding silent 7:43438137-43438137 + TCGA-AA-A010-01 COSM281663 c.3812C>T p.S1271L Substitution - Missense 7:43508077-43508077 + HCC2998 COSM1673143 c.4486C>T p.R1496W Substitution - Missense 7:43552312-43552312 + B111-Tumor COSM1755279 c.1804G>A p.E602K Substitution - Missense 7:43444976-43444976 + CSCC-17-T COSM4495816 c.4614C>T p.S1538S Substitution - coding silent 7:43554695-43554695 + S0087 COSM5884550 c.3109G>A p.V1037M Substitution - Missense 7:43479619-43479619 + 100615 COSM95939 c.879C>T p.I293I Substitution - coding silent 7:43438080-43438080 + BD180T COSM5495043 c.1754C>A p.A585E Substitution - Missense 7:43444926-43444926 + TCGA-ER-A19E-06 COSM3230338 c.3050G>A p.R1017Q Substitution - Missense 7:43469056-43469056 + TCGA-32-5222-01 COSM3412061 c.1632G>A p.T544T Substitution - coding silent 7:43444804-43444804 + TCGA-CG-4306-01 COSM3881085 c.2070G>A p.T690T Substitution - coding silent 7:43445242-43445242 + DM48 COSM5609081 c.2958G>A p.M986I Substitution - Missense 7:43468964-43468964 + LIM2551 COSM4644800 c.550G>T p.A184S Substitution - Missense 7:43360975-43360975 + HDC101 COSM4636157 c.2190C>T p.S730S Substitution - coding silent 7:43445362-43445362 + TCGA-RP-A693-06 COSM1089752 c.604C>T p.R202W Substitution - Missense 7:43396862-43396862 + TCGA-BR-8380-01 COSM3881081 c.1949C>T p.T650M Substitution - Missense 7:43445121-43445121 + TCGA-E2-A15M-01 COSM453058 c.181G>A p.V61I Substitution - Missense 7:43311916-43311916 + HCC136T COSM1622873 c.4666C>T p.R1556C Substitution - Missense 7:43554747-43554747 + CLL044 COSM1292505 c.1249G>A p.E417K Substitution - Missense 7:43444421-43444421 + TCGA-EE-A3JD-06 COSM4393960 c.687G>A p.L229L Substitution - coding silent 7:43407617-43407617 + SA069 COSM213230 c.4565T>A p.F1522Y Substitution - Missense 7:43554646-43554646 + HCC038T COSM3230237 c.1695C>T p.T565T Substitution - coding silent 7:43444867-43444867 + TCGA-EE-A180-06 COSM3230348 c.3370C>T p.R1124C Substitution - Missense 7:43493113-43493113 + TCGA-A6-6650-01 COSM3698401 c.1753G>A p.A585T Substitution - Missense 7:43444925-43444925 + TCGA-ER-A193-06 COSM3638753 c.1061C>T p.S354F Substitution - Missense 7:43444233-43444233 + TCGA-66-2777-01 COSM746864 c.2274G>A p.L758L Substitution - coding silent 7:43445446-43445446 + TCGA-AB-2862-03 COSM188712 c.3815G>A p.R1272Q Substitution - Missense 7:43508080-43508080 + TCGA-BQ-7061-01 COSM3995586 c.4227T>A p.V1409V Substitution - coding silent 7:43541977-43541977 + LUAD-NYU1051S COSM368971 c.2407C>A p.P803T Substitution - Missense 7:43450836-43450836 + SW837 COSM3230304 c.2582C>T p.T861M Substitution - Missense 7:43456378-43456378 + CN-AML-08-T COSM4417080 c.2805A>G p.E935E Substitution - coding silent 7:43466460-43466460 + CSCC-27-T COSM4470065 c.1638C>T p.I546I Substitution - coding silent 7:43444810-43444810 + TCGA-G4-6320-01 COSM3698399 c.1351C>T p.P451S Substitution - Missense 7:43444523-43444523 + CSCC-62-T COSM4480709 c.2444C>T p.P815L Substitution - Missense 7:43450873-43450873 + CRC-06T COSM5457333 c.2021A>G p.D674G Substitution - Missense 7:43445193-43445193 + I2L-P19Ta-Tumor-Organoid COSM5358123 c.1283A>C p.Q428P Substitution - Missense 7:43444455-43444455 + SW837 COSM3230305 c.2582C>T p.T861M Substitution - Missense 7:43456378-43456378 + SNU-175 COSM3230290 c.2304G>A p.P768P Substitution - coding silent 7:43445476-43445476 + T3104 COSM3230258 c.1950G>A p.T650T Substitution - coding silent 7:43445122-43445122 + S02242 COSM5677487 c.1717G>T p.A573S Substitution - Missense 7:43444889-43444889 + TCGA-BP-4770-01 COSM485351 c.4383C>T p.R1461R Substitution - coding silent 7:43550579-43550579 + ESO-0123 COSM1254075 c.2996G>A p.R999H Substitution - Missense 7:43469002-43469002 + T3225 COSM3412054 c.367G>A p.E123K Substitution - Missense 7:43320649-43320649 + S00842 COSM5662311 c.193C>T p.R65C Substitution - Missense 7:43311928-43311928 + TCGA-EE-A20F-06 COSM3638793 c.2615C>T p.S872L Substitution - Missense 7:43456411-43456411 + 02-P170 COSM4587404 c.1733C>T p.A578V Substitution - Missense 7:43444905-43444905 + C086 COSM5532251 c.4208T>G p.L1403* Substitution - Nonsense 7:43541958-43541958 + ATL083 COSM5710591 c.3458G>A p.R1153Q Substitution - Missense 7:43500719-43500719 + TCGA-24-1555-01 COSM69437 c.4249-2A>T p.? Unknown 7:43550443-43550443 + HCA7 COSM3881067 c.165C>T p.G55G Substitution - coding silent 7:43311900-43311900 + TCGA-EI-6513-01 COSM3431611 c.4036C>T p.R1346C Substitution - Missense 7:43541179-43541179 + LPJ108 COSM1316305 c.951G>T p.R317S Substitution - Missense 7:43442535-43442535 + TCGA-G4-6320-01 COSM3698398 c.1351C>T p.P451S Substitution - Missense 7:43444523-43444523 + RKO COSM3230336 c.3008A>G p.N1003S Substitution - Missense 7:43469014-43469014 + pfg125T COSM4753909 c.1765T>C p.S589P Substitution - Missense 7:43444937-43444937 + 587332 COSM1209495 c.2692G>A p.E898K Substitution - Missense 7:43463700-43463700 + TCGA-AH-6897-01 COSM3431608 c.3740C>T p.P1247L Substitution - Missense 7:43507245-43507245 + TCGA-CD-5801-01 COSM3881090 c.2450T>G p.L817R Substitution - Missense 7:43450879-43450879 + 587248 COSM1209503 c.52G>C p.G18R Substitution - Missense 7:43311787-43311787 + 824_T COSM3230381 c.3993C>T p.S1331S Substitution - coding silent 7:43509095-43509095 + CHC1604T COSM4787863 c.1557G>T p.E519D Substitution - Missense 7:43444729-43444729 + TCGA-B5-A0JY-01 COSM1089748 c.407C>T p.S136F Substitution - Missense 7:43320689-43320689 + TCGA-EE-A3JD-06 COSM453074 c.4254G>A p.T1418T Substitution - coding silent 7:43550450-43550450 + TCGA-EE-A29L-06 COSM3638771 c.1798C>T p.L600F Substitution - Missense 7:43444970-43444970 + 587350 COSM1089734 c.268A>G p.I90V Substitution - Missense 7:43312003-43312003 + CSCC-11-T COSM4527441 c.1464G>A p.E488E Substitution - coding silent 7:43444636-43444636 + TCGA-BH-A18P-01 COSM453071 c.4089G>C p.T1363T Substitution - coding silent 7:43541232-43541232 + UM-SCC-2 COSM3230277 c.2199C>G p.F733L Substitution - Missense 7:43445371-43445371 + TCGA-12-0821-01 COSM3412056 c.457G>C p.E153Q Substitution - Missense 7:43320739-43320739 + PT46 COSM5928932 c.3085G>A p.D1029N Substitution - Missense 7:43469091-43469091 + TCGA-D5-6533-01 COSM1450791 c.1749C>T p.D583D Substitution - coding silent 7:43444921-43444921 + TCGA-D1-A15X-01 COSM1089779 c.2576G>A p.R859H Substitution - Missense 7:43456372-43456372 + TCGA-AA-3511-01 COSM1450818 c.3103T>G p.F1035V Substitution - Missense 7:43479613-43479613 + TCGA-G4-6306-01 COSM1450789 c.1734G>A p.A578A Substitution - coding silent 7:43444906-43444906 + Pat_01_A COSM5872714 c.545C>T p.S182L Substitution - Missense 7:43360970-43360970 + TCGA-18-4086-01 COSM746869 c.2014G>T p.G672C Substitution - Missense 7:43445186-43445186 + TCGA-BH-A1FM-01 COSM1488558 c.2861C>T p.A954V Substitution - Missense 7:43466516-43466516 + J33_T COSM3950520 c.4365G>A p.Q1455Q Substitution - coding silent 7:43550561-43550561 + TCGA-F5-6814-01 COSM1673144 c.4486C>T p.R1496W Substitution - Missense 7:43552312-43552312 + ESO-931 COSM1254089 c.4176G>A p.Q1392Q Substitution - coding silent 7:43541926-43541926 + pfg058T COSM1450768 c.61G>A p.A21T Substitution - Missense 7:43311796-43311796 + YURAY COSM5407502 c.4274G>A p.G1425E Substitution - Missense 7:43550470-43550470 + 587364 COSM1089760 c.905C>T p.S302L Substitution - Missense 7:43438106-43438106 + TCGA-EE-A3JI-06 COSM3638745 c.680C>T p.P227L Substitution - Missense 7:43407610-43407610 + TCGA-BR-4184-01 COSM3881100 c.3637C>T p.Q1213* Substitution - Nonsense 7:43507142-43507142 + I2L-P9-Tumor-Biopsy COSM5358543 c.118C>T p.R40* Substitution - Nonsense 7:43311853-43311853 + TCGA-FW-A3R5-06 COSM3230421 c.4689G>A p.G1563G Substitution - coding silent 7:43554770-43554770 + TCGA-DC-4749-01 COSM3431607 c.2212G>A p.D738N Substitution - Missense 7:43445384-43445384 + TCGA-BH-A0W7-01 COSM453065 c.3400G>A p.E1134K Substitution - Missense 7:43493143-43493143 + CHC1604T COSM4787864 c.1557G>T p.E519D Substitution - Missense 7:43444729-43444729 + CSCC-29-T COSM4570067 c.2318T>G p.L773R Substitution - Missense 7:43445490-43445490 + I2L-P26-Tumor-Organoid COSM5358323 c.3083C>T p.T1028M Substitution - Missense 7:43469089-43469089 + TCGA-HU-A4GH-01 COSM3881102 c.3689A>C p.K1230T Substitution - Missense 7:43507194-43507194 + 02-P170 COSM4587406 c.1735G>T p.A579S Substitution - Missense 7:43444907-43444907 + B89-4-Tumor COSM1755275 c.630A>T p.S210S Substitution - coding silent 7:43396888-43396888 + TCGA-FJ-A3ZE-01 COSM3778438 c.2678C>G p.A893G Substitution - Missense 7:43463686-43463686 + TCGA-66-2777-01 COSM746865 c.2274G>A p.L758L Substitution - coding silent 7:43445446-43445446 + TCGA-AP-A0LM-01 COSM1089749 c.556-1G>T p.? Unknown 7:43396813-43396813 + TCGA-14-1455 COSM2155581 c.2163C>T p.S721S Substitution - coding silent 7:43445335-43445335 + TCGA-60-2722-01 COSM746853 c.3201C>G p.H1067Q Substitution - Missense 7:43479711-43479711 + TCGA-AZ-4615-01 COSM453070 c.3943_3944delTT p.F1315fs*1 Deletion - Frameshift 7:43509045-43509046 + CN-AML-NR-08-Dx COSM3762672 c.3228T>C p.A1076A Substitution - coding silent 7:43479738-43479738 + I2L-P6-Tumor-Biopsy COSM5358366 c.3403C>T p.R1135C Substitution - Missense 7:43493146-43493146 + TCGA-EE-A29D-06 COSM3638760 c.1323C>T p.L441L Substitution - coding silent 7:43444495-43444495 + sysucc-912T COSM5764962 c.1716C>T p.S572S Substitution - coding silent 7:43444888-43444888 + pfg212T COSM4753907 c.1286G>T p.G429V Substitution - Missense 7:43444458-43444458 + TCGA-CI-6624-01 COSM1568977 c.3820G>A p.E1274K Substitution - Missense 7:43508085-43508085 + HCT-15 COSM1673134 c.1958G>T p.S653I Substitution - Missense 7:43445130-43445130 + CSCC-7-T COSM4522669 c.1173G>A p.W391* Substitution - Nonsense 7:43444345-43444345 + I2L-P6-Tumor-Organoid COSM5358367 c.3403C>T p.R1135C Substitution - Missense 7:43493146-43493146 + 824_T COSM3230382 c.3993C>T p.S1331S Substitution - coding silent 7:43509095-43509095 + sysucc-773T COSM5460363 c.2448C>G p.S816S Substitution - coding silent 7:43450877-43450877 + TCGA-66-2759-01 COSM746882 c.249C>A p.V83V Substitution - coding silent 7:43311984-43311984 + TCGA-FD-A3B4-01 COSM1313095 c.3763C>A p.R1255S Substitution - Missense 7:43508028-43508028 + tumor_4160468 COSM3358143 c.4635C>T p.F1545F Substitution - coding silent 7:43554716-43554716 + TCGA-AP-A0LM-01 COSM1089808 c.4300A>C p.K1434Q Substitution - Missense 7:43550496-43550496 + TCGA-AD-6901-01 COSM1450802 c.2501-1G>C p.? Unknown 7:43456296-43456296 + sysucc-968T COSM5763931 c.1487G>A p.R496Q Substitution - Missense 7:43444659-43444659 + TCGA-GN-A266-06 COSM3638762 c.1497G>A p.R499R Substitution - coding silent 7:43444669-43444669 + CN-AML-08-T COSM4417081 c.2805A>G p.E935E Substitution - coding silent 7:43466460-43466460 + 587350 COSM1089736 c.268A>G p.I90V Substitution - Missense 7:43312003-43312003 + SNU-C2B COSM3230378 c.3955G>A p.A1319T Substitution - Missense 7:43509057-43509057 + PT49 COSM5935282 c.3439G>A p.E1147K Substitution - Missense 7:43500700-43500700 + TCGA-AX-A0J0-01 COSM1089799 c.4072C>A p.L1358I Substitution - Missense 7:43541215-43541215 + TCGA-D3-A2JA-06 COSM3638777 c.1926T>C p.N642N Substitution - coding silent 7:43445098-43445098 + sysucc-1397T COSM5475055 c.1177C>T p.P393S Substitution - Missense 7:43444349-43444349 + TCGA-D9-A6EC-06 COSM4402495 c.591A>G p.Q197Q Substitution - coding silent 7:43396849-43396849 + I2L-P9-Tumor-Organoid COSM5358543 c.118C>T p.R40* Substitution - Nonsense 7:43311853-43311853 + TCGA-D3-A5GO-06 COSM3638782 c.2102C>T p.S701L Substitution - Missense 7:43445274-43445274 + TCGA-46-6025-01 COSM746877 c.600A>G p.G200G Substitution - coding silent 7:43396858-43396858 + TCGA-66-2759-01 COSM746883 c.249C>A p.V83V Substitution - coding silent 7:43311984-43311984 + PD13755a COSM5798172 c.1377C>T p.A459A Substitution - coding silent 7:43444549-43444549 + TCGA-F4-6570-01 COSM1450782 c.804A>G p.Q268Q Substitution - coding silent 7:43438005-43438005 + 116 COSM1741472 c.28-1G>A p.? Unknown 7:43311762-43311762 + 2492700 COSM4362415 c.1608C>T p.S536S Substitution - coding silent 7:43444780-43444780 + S01453 COSM4943035 c.1859C>A p.P620H Substitution - Missense 7:43445031-43445031 + TCGA-10-0930-01 COSM74880 c.3371G>A p.R1124H Substitution - Missense 7:43493114-43493114 + sysucc-731T COSM3230295 c.2352G>A p.P784P Substitution - coding silent 7:43445524-43445524 + TCGA-ER-A194-01 COSM3638830 c.4680G>T p.E1560D Substitution - Missense 7:43554761-43554761 + T2269 COSM4689936 c.3897C>T p.F1299F Substitution - coding silent 7:43508999-43508999 + TCGA-HT-8564-01 COSM3929046 c.1962C>T p.T654T Substitution - coding silent 7:43445134-43445134 + HCC28T COSM1622871 c.79A>G p.R27G Substitution - Missense 7:43311814-43311814 + T1182 COSM1673133 c.100C>T p.R34W Substitution - Missense 7:43311835-43311835 + MO_1232 COSM4410248 c.2058G>A p.S686S Substitution - coding silent 7:43445230-43445230 + ML4 COSM1165571 c.3596G>A p.R1199Q Substitution - Missense 7:43501287-43501287 + TCGA-FU-A3WB-01 COSM4843834 c.2923C>T p.R975* Substitution - Nonsense 7:43468929-43468929 + ESCC-127T COSM3942218 c.1048G>A p.D350N Substitution - Missense 7:43444220-43444220 + 35M COSM4470065 c.1638C>T p.I546I Substitution - coding silent 7:43444810-43444810 + TCGA-60-2722-01 COSM746852 c.3201C>G p.H1067Q Substitution - Missense 7:43479711-43479711 + 16246 COSM5615841 c.3172C>A p.L1058I Substitution - Missense 7:43479682-43479682 + TCGA-AP-A059-01 COSM1089760 c.905C>T p.S302L Substitution - Missense 7:43438106-43438106 + TCGA-BR-4184-01 COSM3881113 c.4092G>T p.R1364S Substitution - Missense 7:43541235-43541235 + RKO COSM1089776 c.2217G>C p.E739D Substitution - Missense 7:43445389-43445389 + CSCC-7-T COSM4473202 c.1835C>T p.A612V Substitution - Missense 7:43445007-43445007 + YUKAT COSM5407487 c.724C>T p.P242S Substitution - Missense 7:43407654-43407654 + TCGA-EE-A20F-06 COSM3638794 c.2615C>T p.S872L Substitution - Missense 7:43456411-43456411 + TCGA-DD-A39V-01 COSM4912490 c.1502A>G p.E501G Substitution - Missense 7:43444674-43444674 + TCGA-D1-A15X-01 COSM1089766 c.1285G>C p.G429R Substitution - Missense 7:43444457-43444457 + ASHPC_0030_Pa_P COSM1450811 c.2742C>T p.G914G Substitution - coding silent 7:43463750-43463750 + 8048567 COSM3230265 c.2087C>T p.S696L Substitution - Missense 7:43445259-43445259 + TCGA-76-6661-01 COSM3412053 c.174C>T p.H58H Substitution - coding silent 7:43311909-43311909 + CSCC-31-T COSM4493477 c.4161C>A p.F1387L Substitution - Missense 7:43541911-43541911 + S15_post COSM5574668 c.1778A>T p.D593V Substitution - Missense 7:43444950-43444950 + LP6005690-DNA_A02 COSM4410248 c.2058G>A p.S686S Substitution - coding silent 7:43445230-43445230 + TCGA-06-0173 COSM2150405 c.3170G>A p.R1057H Substitution - Missense 7:43479680-43479680 + TCGA-D9-A6EC-06 COSM4406290 c.3713T>G p.L1238R Substitution - Missense 7:43507218-43507218 + HCC139 COSM3663197 c.1103C>T p.P368L Substitution - Missense 7:43444275-43444275 + TCGA-ER-A19A-06 COSM3638742 c.592G>A p.G198R Substitution - Missense 7:43396850-43396850 + 61 COSM5737909 c.4324C>T p.R1442C Substitution - Missense 7:43550520-43550520 + TCGA-AB-2901-03 COSM1318980 c.4464G>A p.A1488A Substitution - coding silent 7:43552290-43552290 + TCGA-FS-A1ZA-06 COSM3638748 c.730C>T p.L244F Substitution - Missense 7:43407660-43407660 + TCGA-EA-A439-01 COSM3230225 c.1358C>T p.P453L Substitution - Missense 7:43444530-43444530 + CSCC-62-T COSM4480708 c.2444C>T p.P815L Substitution - Missense 7:43450873-43450873 + H460 COSM1196935 c.358G>T p.V120F Substitution - Missense 7:43320640-43320640 + 1N30-VS-1T30 COSM4974158 c.94C>T p.R32* Substitution - Nonsense 7:43311829-43311829 + TCGA-B6-A0RE-01 COSM299677 c.3888G>A p.S1296S Substitution - coding silent 7:43508990-43508990 + 587220 COSM1209489 c.1931C>T p.A644V Substitution - Missense 7:43445103-43445103 + 587284 COSM1209498 c.3149G>A p.R1050Q Substitution - Missense 7:43479659-43479659 + TCGA-CM-6168-01 COSM1450814 c.2764G>T p.E922* Substitution - Nonsense 7:43463772-43463772 + SH-4885 COSM1755276 c.1731C>T p.S577S Substitution - coding silent 7:43444903-43444903 + TCGA-A8-A09W-01 COSM453081 c.4505G>A p.R1502Q Substitution - Missense 7:43552331-43552331 + SS6003309 COSM3982184 c.1211G>A p.G404D Substitution - Missense 7:43444383-43444383 + CRC-31T COSM1963680 c.2313C>T p.D771D Substitution - coding silent 7:43445485-43445485 + CSCC-49-T COSM4450349 c.555+1G>T p.? Unknown 7:43360981-43360981 + HCC038T COSM3230238 c.1695C>T p.T565T Substitution - coding silent 7:43444867-43444867 + TCGA-60-2708-01 COSM746872 c.1445C>A p.T482N Substitution - Missense 7:43444617-43444617 + SW1463 COSM3230224 c.1260A>C p.A420A Substitution - coding silent 7:43444432-43444432 + 3N22-VS-3T22 COSM4979521 c.2451G>A p.L817L Substitution - coding silent 7:43450880-43450880 + TCGA-DK-A1A5-01 COSM421448 c.1930G>A p.A644T Substitution - Missense 7:43445102-43445102 + TCGA-EE-A182-06 COSM3638767 c.1653G>A p.G551G Substitution - coding silent 7:43444825-43444825 + TCGA-HU-A4GT-01 COSM3881117 c.4348C>T p.R1450C Substitution - Missense 7:43550544-43550544 + 6T COSM3734256 c.2098G>T p.A700S Substitution - Missense 7:43445270-43445270 + PD8610a COSM5789193 c.961T>A p.Y321N Substitution - Missense 7:43442545-43442545 + YUFERY COSM249065 c.3215G>A p.R1072Q Substitution - Missense 7:43479725-43479725 + CSCC-18-T COSM4566738 c.44_45GG>AA p.R15K Substitution - Missense 7:43311779-43311780 + TCGA-DU-6403-01 COSM3929049 c.4248+1G>C p.? Unknown 7:43541999-43541999 + TCGA-ER-A194-01 COSM3638831 c.4680G>T p.E1560D Substitution - Missense 7:43554761-43554761 + CSCC-19-T COSM4571068 c.3774T>A p.H1258Q Substitution - Missense 7:43508039-43508039 + Pat_45_B COSM5407494 c.3055G>A p.E1019K Substitution - Missense 7:43469061-43469061 + 35M COSM5581301 c.432G>A p.K144K Substitution - coding silent 7:43320714-43320714 + sysucc-1370T COSM5472405 c.2111G>A p.S704N Substitution - Missense 7:43445283-43445283 + 104867 COSM94446 c.4604C>T p.T1535M Substitution - Missense 7:43554685-43554685 + 86788 COSM94445 c.3481G>A p.E1161K Substitution - Missense 7:43500742-43500742 + TCGA-AG-A002-01 COSM261251 c.3510C>A p.V1170V Substitution - coding silent 7:43500771-43500771 + SNUH_G76_S1 COSM4417663 c.2904T>C p.H968H Substitution - coding silent 7:43466559-43466559 + pfg011T COSM1643342 c.3368T>C p.L1123P Substitution - Missense 7:43493111-43493111 + T1182 COSM1673132 c.100C>T p.R34W Substitution - Missense 7:43311835-43311835 + TCGA-B5-A11E-01 COSM1089800 c.4117C>A p.L1373M Substitution - Missense 7:43541260-43541260 + SNU_19_S1 COSM4420004 c.2579C>T p.P860L Substitution - Missense 7:43456375-43456375 + HCC28 COSM1622871 c.79A>G p.R27G Substitution - Missense 7:43311814-43311814 + TCGA-EI-6513-01 COSM3431610 c.4036C>T p.R1346C Substitution - Missense 7:43541179-43541179 + B81-1-Tumor COSM1755277 c.1731C>T p.S577S Substitution - coding silent 7:43444903-43444903 + CSCC-7-T COSM4528042 c.1507G>A p.E503K Substitution - Missense 7:43444679-43444679 + PT13 COSM4849326 c.271G>A p.G91R Substitution - Missense 7:43312006-43312006 + 19 COSM5746717 c.68C>T p.A23V Substitution - Missense 7:43311803-43311803 + YUGURT COSM3638766 c.1529G>A p.G510E Substitution - Missense 7:43444701-43444701 + TCGA-A6-6782-01 COSM1450771 c.194G>A p.R65H Substitution - Missense 7:43311929-43311929 + 587222 COSM1209492 c.3812C>T p.S1271L Substitution - Missense 7:43508077-43508077 + TCGA-30-1856-01 COSM1329824 c.1476G>A p.T492T Substitution - coding silent 7:43444648-43444648 + T2269 COSM4689935 c.3897C>T p.F1299F Substitution - coding silent 7:43508999-43508999 + TCGA-66-2757-01 COSM746867 c.2215G>T p.E739* Substitution - Nonsense 7:43445387-43445387 + sysucc-1397T COSM5475054 c.1177C>T p.P393S Substitution - Missense 7:43444349-43444349 + HCC139T COSM3663198 c.1103C>T p.P368L Substitution - Missense 7:43444275-43444275 + TCGA-EE-A2MR-06 COSM3638790 c.2215G>A p.E739K Substitution - Missense 7:43445387-43445387 + 610184MDS COSM1963680 c.2313C>T p.D771D Substitution - coding silent 7:43445485-43445485 + ME009T COSM223153 c.4210G>T p.D1404Y Substitution - Missense 7:43541960-43541960 + TCGA-66-2780-01 COSM746875 c.1354G>T p.A452S Substitution - Missense 7:43444526-43444526 + Gp2D COSM4628643 c.901C>T p.L301L Substitution - coding silent 7:43438102-43438102 + HCC2998 COSM1673143 c.4486C>T p.R1496W Substitution - Missense 7:43552312-43552312 + Pat_15_B COSM5872717 c.4781_4782delTA p.L1594fs*12 Deletion - Frameshift 7:43561886-43561887 + TCGA-E9-A1NI-01 COSM5835405 c.1153delC p.P385fs*26 Deletion - Frameshift 7:43444325-43444325 + TCGA-CZ-4865-01 COSM3366931 c.261C>A p.Y87* Substitution - Nonsense 7:43311996-43311996 + TCGA-56-6545-01 COSM746844 c.4592T>A p.L1531Q Substitution - Missense 7:43554673-43554673 + TCGA-G9-6367-01 COSM1131579 c.3597A>C p.R1199R Substitution - coding silent 7:43501288-43501288 + TCGA-AZ-5407-01 COSM3698403 c.1969G>A p.E657K Substitution - Missense 7:43445141-43445141 + TCGA-EE-A2MS-06 COSM3638800 c.2970C>T p.V990V Substitution - coding silent 7:43468976-43468976 + CSCC-44-T COSM4503276 c.636C>T p.F212F Substitution - coding silent 7:43407566-43407566 + 8035749 COSM4781613 c.3766C>T p.R1256W Substitution - Missense 7:43508031-43508031 + TCGA-BR-4184-01 COSM3881118 c.4617C>T p.S1539S Substitution - coding silent 7:43554698-43554698 + TCGA-ER-A193-06 COSM3638822 c.4045G>A p.G1349S Substitution - Missense 7:43541188-43541188 + 587284 COSM1209497 c.3149G>A p.R1050Q Substitution - Missense 7:43479659-43479659 + RK232_C01 COSM4944854 c.2296G>T p.A766S Substitution - Missense 7:43445468-43445468 + CSCC-31-T COSM4490166 c.3592C>T p.P1198S Substitution - Missense 7:43501283-43501283 + 8033610 COSM226173 c.2087C>T p.S696L Substitution - Missense 7:43445259-43445259 + TCGA-AM-5820-01 COSM3698404 c.2066G>T p.S689I Substitution - Missense 7:43445238-43445238 + Case5 COSM1579403 c.1207G>T p.D403Y Substitution - Missense 7:43444379-43444379 + ESO-118 COSM1254080 c.1487G>C p.R496P Substitution - Missense 7:43444659-43444659 + TCGA-A2-A3XU-01 COSM1450795 c.1815G>A p.T605T Substitution - coding silent 7:43444987-43444987 + ESCC-127T COSM3942219 c.1048G>A p.D350N Substitution - Missense 7:43444220-43444220 + T3505 COSM4689922 c.1900G>A p.G634R Substitution - Missense 7:43445072-43445072 + STC246 COSM5062466 c.2103G>A p.S701S Substitution - coding silent 7:43445275-43445275 + PT46 COSM5928933 c.3528T>G p.F1176L Substitution - Missense 7:43501219-43501219 + sysucc-311T COSM5467139 c.2238C>T p.F746F Substitution - coding silent 7:43445410-43445410 + SA069 COSM213231 c.4566C>A p.F1522L Substitution - Missense 7:43554647-43554647 + TCGA-D3-A5GO-06 COSM3638735 c.178G>A p.G60S Substitution - Missense 7:43311913-43311913 + TCGA-EE-A29E-06 COSM3638769 c.1713C>T p.P571P Substitution - coding silent 7:43444885-43444885 + SS6003308 COSM3982184 c.1211G>A p.G404D Substitution - Missense 7:43444383-43444383 + ESCC_142 COSM5643837 c.132C>A p.N44K Substitution - Missense 7:43311867-43311867 + TCGA-CM-6161-01 COSM1450776 c.661A>G p.M221V Substitution - Missense 7:43407591-43407591 + 4 COSM3734800 c.4640delC p.L1548fs*12 Deletion - Frameshift 7:43554721-43554721 + PT49 COSM5935281 c.3439G>A p.E1147K Substitution - Missense 7:43500700-43500700 + sysucc-1143T COSM3230355 c.3500C>T p.A1167V Substitution - Missense 7:43500761-43500761 + CSCC-44-T COSM4533770 c.2013G>A p.E671E Substitution - coding silent 7:43445185-43445185 + RK232_C01 COSM4944855 c.2296G>T p.A766S Substitution - Missense 7:43445468-43445468 + SA092 COSM212069 c.809G>C p.S270T Substitution - Missense 7:43438010-43438010 + LC_S12 COSM1187287 c.2356G>A p.G786S Substitution - Missense 7:43445528-43445528 + CHC1915T COSM3669736 c.2425C>A p.Q809K Substitution - Missense 7:43450854-43450854 + 8047893 COSM3394767 c.2323G>A p.A775T Substitution - Missense 7:43445495-43445495 + DM79 COSM3638799 c.2970C>T p.V990V Substitution - coding silent 7:43468976-43468976 + TCGA-B5-A11E-01 COSM1089802 c.4117C>A p.L1373M Substitution - Missense 7:43541260-43541260 + TCGA-A8-A0A6-01 COSM3832804 c.3603A>C p.S1201S Substitution - coding silent 7:43501294-43501294 + 587224 COSM1209491 c.4354G>A p.V1452M Substitution - Missense 7:43550550-43550550 + SJRHB005 COSM3738415 c.60C>T p.A20A Substitution - coding silent 7:43311795-43311795 + CN-AML-08-T COSM3762671 c.3228T>C p.A1076A Substitution - coding silent 7:43479738-43479738 + T1743 COSM4689926 c.2128G>A p.G710S Substitution - Missense 7:43445300-43445300 + HDC90 COSM4637517 c.4321G>A p.E1441K Substitution - Missense 7:43550517-43550517 + I2L-P6-Tumor-Organoid COSM5358366 c.3403C>T p.R1135C Substitution - Missense 7:43493146-43493146 + 8067242 COSM1450787 c.1726G>A p.G576S Substitution - Missense 7:43444898-43444898 + HCC159T COSM5806723 c.2229C>A p.N743K Substitution - Missense 7:43445401-43445401 + SC_9030 COSM5558449 c.3525C>T p.L1175L Substitution - coding silent 7:43501216-43501216 + TCGA-F4-6570-01 COSM1450781 c.804A>G p.Q268Q Substitution - coding silent 7:43438005-43438005 + TCGA-HU-A4G8-01 COSM3230338 c.3050G>A p.R1017Q Substitution - Missense 7:43469056-43469056 + TCGA-FS-A1ZA-06 COSM3638747 c.730C>T p.L244F Substitution - Missense 7:43407660-43407660 + TCGA-EE-A29M-06 COSM3638775 c.1845G>A p.E615E Substitution - coding silent 7:43445017-43445017 + 10-276 COSM3736866 c.2971C>T p.R991* Substitution - Nonsense 7:43468977-43468977 + 95 COSM5011740 c.3585C>A p.S1195R Substitution - Missense 7:43501276-43501276 + TCGA-A8-A079-01 COSM453062 c.1741G>T p.E581* Substitution - Nonsense 7:43444913-43444913 + CSCC-32-T COSM1719044 c.2513G>A p.R838Q Substitution - Missense 7:43456309-43456309 + 401 COSM4429706 c.3549C>T p.Y1183Y Substitution - coding silent 7:43501240-43501240 + CHC1754T COSM4792895 c.3084G>A p.T1028T Substitution - coding silent 7:43469090-43469090 + TCGA-D3-A5GO-06 COSM3638736 c.178G>A p.G60S Substitution - Missense 7:43311913-43311913 + CN-AML-NR-08-Dx COSM4417081 c.2805A>G p.E935E Substitution - coding silent 7:43466460-43466460 + TCGA-A2-A04Q-01 COSM453076 c.4350C>T p.R1450R Substitution - coding silent 7:43550546-43550546 + 1344-01-03TD COSM453068 c.3888G>A p.S1296S Substitution - coding silent 7:43508990-43508990 + TCGA-EE-A2GC-06 COSM3638825 c.4059C>T p.I1353I Substitution - coding silent 7:43541202-43541202 + ESO-0115 COSM1254073 c.4561C>T p.R1521C Substitution - Missense 7:43554642-43554642 + TCGA-AH-6903-01 COSM1963680 c.2313C>T p.D771D Substitution - coding silent 7:43445485-43445485 + ICGC_0004 COSM1157746 c.1141C>T p.R381W Substitution - Missense 7:43444313-43444313 + ME049T COSM230113 c.4523G>A p.G1508E Substitution - Missense 7:43554604-43554604 + HT115 COSM3230374 c.3921C>A p.L1307L Substitution - coding silent 7:43509023-43509023 + ESCC_BICR_048T COSM453058 c.181G>A p.V61I Substitution - Missense 7:43311916-43311916 + TCGA-D9-A6EA-06 COSM4398171 c.2768C>T p.A923V Substitution - Missense 7:43463776-43463776 + TCGA-FR-A3YO-06 COSM3230417 c.4506G>A p.R1502R Substitution - coding silent 7:43552332-43552332 + TCGA-CJ-4873-01 COSM3774287 c.1539T>C p.S513S Substitution - coding silent 7:43444711-43444711 + HCC139T COSM3663197 c.1103C>T p.P368L Substitution - Missense 7:43444275-43444275 + DM26 COSM5609078 c.3023A>G p.N1008S Substitution - Missense 7:43469029-43469029 + ESCC-059T COSM3942216 c.363G>T p.L121F Substitution - Missense 7:43320645-43320645 + TCGA-A7-A2KD-01 COSM3832795 c.972C>T p.G324G Substitution - coding silent 7:43442556-43442556 + TCGA-D9-A6EC-06 COSM4402494 c.591A>G p.Q197Q Substitution - coding silent 7:43396849-43396849 + TCGA-BS-A0UV-01 COSM1089796 c.3769G>A p.D1257N Substitution - Missense 7:43508034-43508034 + 1_RESISTANT COSM1719044 c.2513G>A p.R838Q Substitution - Missense 7:43456309-43456309 + CN-AML-NR-08-Dx COSM4417080 c.2805A>G p.E935E Substitution - coding silent 7:43466460-43466460 + TCGA-AX-A1C8-01 COSM1089736 c.268A>G p.I90V Substitution - Missense 7:43312003-43312003 + TCGA-60-2719-01 COSM746861 c.2612G>C p.R871T Substitution - Missense 7:43456408-43456408 + RK050_C COSM1635310 c.1279G>A p.D427N Substitution - Missense 7:43444451-43444451 + 070T COSM1730563 c.2307G>A p.W769* Substitution - Nonsense 7:43445479-43445479 + TCGA-FS-A1ZM-06 COSM3638752 c.838G>A p.E280K Substitution - Missense 7:43438039-43438039 + CHC1754T COSM4792896 c.3084G>A p.T1028T Substitution - coding silent 7:43469090-43469090 + TCGA-E9-A1NI-01 COSM5835406 c.1153delC p.P385fs*26 Deletion - Frameshift 7:43444325-43444325 + TCGA-A6-6782-01 COSM1450772 c.194G>A p.R65H Substitution - Missense 7:43311929-43311929 + 215 COSM4424568 c.463G>A p.E155K Substitution - Missense 7:43360888-43360888 + TCGA-A6-6650-01 COSM3698400 c.1753G>A p.A585T Substitution - Missense 7:43444925-43444925 + 49M COSM5591251 c.2584G>A p.A862T Substitution - Missense 7:43456380-43456380 + CHC1720T COSM601341 c.273G>A p.G91G Substitution - coding silent 7:43312008-43312008 + TCGA-BP-5008-01 COSM485339 c.517A>T p.T173S Substitution - Missense 7:43360942-43360942 + TCGA-G4-6322-01 COSM3698397 c.774C>A p.N258K Substitution - Missense 7:43407704-43407704 + WSU-HN8 COSM4602830 c.4358T>G p.V1453G Substitution - Missense 7:43550554-43550554 + YUKAT COSM5407489 c.799G>A p.E267K Substitution - Missense 7:43407729-43407729 + Pat_53_A COSM1635309 c.832G>A p.V278M Substitution - Missense 7:43438033-43438033 + DM48 COSM5609080 c.2958G>A p.M986I Substitution - Missense 7:43468964-43468964 + T3225 COSM3412055 c.367G>A p.E123K Substitution - Missense 7:43320649-43320649 + PASLZM COSM4164334 c.2883C>T p.P961P Substitution - coding silent 7:43466538-43466538 + 16246 COSM5615840 c.3172C>A p.L1058I Substitution - Missense 7:43479682-43479682 + TCGA-AP-A056-01 COSM1089763 c.1212T>C p.G404G Substitution - coding silent 7:43444384-43444384 + 2492702 COSM4362416 c.1608C>T p.S536S Substitution - coding silent 7:43444780-43444780 + BON-1 COSM1450820 c.3694C>T p.R1232C Substitution - Missense 7:43507199-43507199 + ESCC_BICR_009T COSM4689927 c.2139C>T p.F713F Substitution - coding silent 7:43445311-43445311 + RK050_C01 COSM1635311 c.1279G>A p.D427N Substitution - Missense 7:43444451-43444451 + TCGA-BS-A0UJ-01 COSM1089788 c.3487T>A p.L1163M Substitution - Missense 7:43500748-43500748 + TCGA-E2-A15M-01 COSM453059 c.181G>A p.V61I Substitution - Missense 7:43311916-43311916 + PD7436a COSM3720180 c.4420G>A p.V1474M Substitution - Missense 7:43552246-43552246 + SNU-175 COSM3230388 c.4033G>T p.G1345C Substitution - Missense 7:43541176-43541176 + TCGA-FU-A3TX-01 COSM4849326 c.271G>A p.G91R Substitution - Missense 7:43312006-43312006 + TCGA-EB-A430-01 COSM3638739 c.446C>T p.S149L Substitution - Missense 7:43320728-43320728 + TCGA-61-2113-01 COSM79964 c.4173G>A p.L1391L Substitution - coding silent 7:43541923-43541923 + 2492703 COSM4362416 c.1608C>T p.S536S Substitution - coding silent 7:43444780-43444780 + TCGA-D3-A5GO-06 COSM3923634 c.2123A>C p.Y708S Substitution - Missense 7:43445295-43445295 + TCGA-13-0800-01 COSM74881 c.4462G>A p.A1488T Substitution - Missense 7:43552288-43552288 + ESO-0292 COSM1241246 c.3887C>T p.S1296L Substitution - Missense 7:43508989-43508989 + TCGA-HU-A4GQ-01 COSM3881111 c.3847A>G p.T1283A Substitution - Missense 7:43508112-43508112 + C086 COSM5532256 c.1284G>A p.Q428Q Substitution - coding silent 7:43444456-43444456 + TCGA-B5-A11E-01 COSM1089754 c.604C>T p.R202W Substitution - Missense 7:43396862-43396862 + YURAY COSM4493307 c.412C>T p.R138W Substitution - Missense 7:43320694-43320694 + CHC892T COSM3230269 c.2151G>A p.T717T Substitution - coding silent 7:43445323-43445323 + 215 COSM4424569 c.463G>A p.E155K Substitution - Missense 7:43360888-43360888 + TCGA-GI-A2C8-01 COSM1488556 c.1393G>T p.G465C Substitution - Missense 7:43444565-43444565 + ESO-165 COSM1254084 c.2233G>A p.A745T Substitution - Missense 7:43445405-43445405 + PD18046a COSM5567302 c.366C>T p.S122S Substitution - coding silent 7:43320648-43320648 + YUPAER COSM5407507 c.4735G>A p.D1579N Substitution - Missense 7:43561840-43561840 + LUAD-LIP77 COSM342579 c.2792-1G>A p.? Unknown 7:43466446-43466446 + TCGA-BR-4363-01 COSM74880 c.3371G>A p.R1124H Substitution - Missense 7:43493114-43493114 + SNUH_G76_S1 COSM4417662 c.2904T>C p.H968H Substitution - coding silent 7:43466559-43466559 + TCGA-AH-6544-01 COSM1568981 c.2377G>A p.G793S Substitution - Missense 7:43445549-43445549 + HCT-15 COSM1673142 c.4087A>G p.T1363A Substitution - Missense 7:43541230-43541230 + TCGA-06-0173-01 COSM2150404 c.3170G>A p.R1057H Substitution - Missense 7:43479680-43479680 + ESO-0059 COSM1254070 c.653A>C p.K218T Substitution - Missense 7:43407583-43407583 + TCGA-F4-6856-01 COSM1450779 c.797C>T p.A266V Substitution - Missense 7:43407727-43407727 + TCGA-06-0173-01 COSM2150405 c.3170G>A p.R1057H Substitution - Missense 7:43479680-43479680 + TCGA-CD-A4MG-01 COSM3881063 c.69G>A p.A23A Substitution - coding silent 7:43311804-43311804 + TCGA-CD-5801-01 COSM3881114 c.4129T>G p.L1377V Substitution - Missense 7:43541879-43541879 + Pat_16_A COSM5872715 c.2245G>A p.V749I Substitution - Missense 7:43445417-43445417 + TCGA-D9-A6EA-06 COSM4398170 c.2768C>T p.A923V Substitution - Missense 7:43463776-43463776 + CSCC-7-T COSM4506925 c.733C>T p.P245S Substitution - Missense 7:43407663-43407663 + T3038 COSM4689940 c.4694T>C p.I1565T Substitution - Missense 7:43554775-43554775 + CHC1754T COSM4792896 c.3084G>A p.T1028T Substitution - coding silent 7:43469090-43469090 + 3N50-VS-3T50 COSM4983181 c.3590C>G p.S1197C Substitution - Missense 7:43501281-43501281 + S01453 COSM4943034 c.1859C>A p.P620H Substitution - Missense 7:43445031-43445031 + HCC136 COSM1622874 c.4666C>T p.R1556C Substitution - Missense 7:43554747-43554747 + SJOS001112_M2 COSM4997689 c.1177C>A p.P393T Substitution - Missense 7:43444349-43444349 + TCGA-AN-A046-01 COSM3832799 c.2007T>C p.S669S Substitution - coding silent 7:43445179-43445179 + RK166_C01 COSM1635308 c.832G>A p.V278M Substitution - Missense 7:43438033-43438033 + TCGA-06-2563 COSM2152835 c.2296G>A p.A766T Substitution - Missense 7:43445468-43445468 + PARBRK COSM5005519 c.4351G>A p.G1451S Substitution - Missense 7:43550547-43550547 + LPJ108 COSM1316304 c.951G>T p.R317S Substitution - Missense 7:43442535-43442535 + pfg181T COSM4747092 c.168delC p.H58fs*45 Deletion - Frameshift 7:43311903-43311903 + ESCC-211T COSM1450787 c.1726G>A p.G576S Substitution - Missense 7:43444898-43444898 + CH-60-T2 COSM1450788 c.1726G>A p.G576S Substitution - Missense 7:43444898-43444898 + LIM2551 COSM4644801 c.550G>T p.A184S Substitution - Missense 7:43360975-43360975 + TCGA-A5-A0GW-01 COSM1089775 c.2166G>A p.V722V Substitution - coding silent 7:43445338-43445338 + ESO-H63 COSM1254091 c.1684C>T p.R562C Substitution - Missense 7:43444856-43444856 + CHC1720T COSM601340 c.273G>A p.G91G Substitution - coding silent 7:43312008-43312008 + 61 COSM5737912 c.4685G>T p.W1562L Substitution - Missense 7:43554766-43554766 + TCGA-EI-6917-01 COSM1963681 c.2313C>T p.D771D Substitution - coding silent 7:43445485-43445485 + SNUH_G76_S1 COSM4417081 c.2805A>G p.E935E Substitution - coding silent 7:43466460-43466460 + TCGA-FW-A3R5-06 COSM3923636 c.3865G>A p.G1289S Substitution - Missense 7:43508130-43508130 + TCGA-85-6560-01 COSM746859 c.2806G>A p.G936R Substitution - Missense 7:43466461-43466461 + TCGA-41-3393-01 COSM3412058 c.1465G>T p.E489* Substitution - Nonsense 7:43444637-43444637 + TCGA-A3-3387-01 COSM485350 c.3938G>T p.G1313V Substitution - Missense 7:43509040-43509040 + 1N30-VS-1T30 COSM4974157 c.94C>T p.R32* Substitution - Nonsense 7:43311829-43311829 + PCSI_0240_Pa_P_526 COSM4808589 c.2983C>T p.R995C Substitution - Missense 7:43468989-43468989 + ESCC-211T COSM1450788 c.1726G>A p.G576S Substitution - Missense 7:43444898-43444898 + CSCC-16-T COSM4460813 c.117C>T p.L39L Substitution - coding silent 7:43311852-43311852 + WSU-HN8 COSM4602829 c.4358T>G p.V1453G Substitution - Missense 7:43550554-43550554 + HCT-15 COSM1673136 c.2527G>T p.G843W Substitution - Missense 7:43456323-43456323 + TCGA-61-1900-01 COSM1329820 c.3669C>A p.Y1223* Substitution - Nonsense 7:43507174-43507174 + 3N50-VS-3T50 COSM4983179 c.579T>G p.D193E Substitution - Missense 7:43396837-43396837 + TCGA-D3-A5GO-06 COSM3638737 c.391C>T p.R131C Substitution - Missense 7:43320673-43320673 + sysucc-1365T COSM5766646 c.1071C>T p.T357T Substitution - coding silent 7:43444243-43444243 + TCGA-B8-5551-01 COSM485346 c.3878G>C p.S1293T Substitution - Missense 7:43508980-43508980 + HCT-15 COSM1673135 c.2527G>T p.G843W Substitution - Missense 7:43456323-43456323 + HT55 COSM3230214 c.841A>T p.I281F Substitution - Missense 7:43438042-43438042 + TCGA-ER-A193-06 COSM3638754 c.1061C>T p.S354F Substitution - Missense 7:43444233-43444233 + T3099 COSM4689924 c.1974C>T p.S658S Substitution - coding silent 7:43445146-43445146 + SW1463 COSM3230223 c.1260A>C p.A420A Substitution - coding silent 7:43444432-43444432 + TCGA-BR-7851-01 COSM3881109 c.3830G>A p.R1277Q Substitution - Missense 7:43508095-43508095 + CSCC-49-T COSM4548291 c.4434G>A p.R1478R Substitution - coding silent 7:43552260-43552260 + TCGA-FD-A3N5-01 COSM1313089 c.631+1G>C p.? Unknown 7:43396890-43396890 + TCGA-CJ-4901-01 COSM485337 c.335T>G p.I112S Substitution - Missense 7:43312070-43312070 + SCC-25 COSM3230410 c.4343T>G p.V1448G Substitution - Missense 7:43550539-43550539 + CSCC-49-T COSM4450348 c.555+1G>T p.? Unknown 7:43360981-43360981 + CSCC-31-T COSM4490165 c.3592C>T p.P1198S Substitution - Missense 7:43501283-43501283 + ESO-1154 COSM1254078 c.301G>A p.D101N Substitution - Missense 7:43312036-43312036 + CHC1704T COSM4803914 c.1929C>A p.G643G Substitution - coding silent 7:43445101-43445101 + sysucc-311T COSM3381938 c.3100-5C>T p.? Unknown 7:43479605-43479605 + TCGA-06-2563-01 COSM2152835 c.2296G>A p.A766T Substitution - Missense 7:43445468-43445468 + 2492700 COSM4362416 c.1608C>T p.S536S Substitution - coding silent 7:43444780-43444780 + TCGA-BH-A0C1-01 COSM453061 c.1375G>T p.A459S Substitution - Missense 7:43444547-43444547 + PD3945a COSM3396814 c.521C>T p.T174I Substitution - Missense 7:43360946-43360946 + LUAD-S01482 COSM347501 c.1581G>C p.S527S Substitution - coding silent 7:43444753-43444753 + PDA_098 COSM453059 c.181G>A p.V61I Substitution - Missense 7:43311916-43311916 + TCGA-FS-A1ZM-06 COSM3638751 c.838G>A p.E280K Substitution - Missense 7:43438039-43438039 + 86563 COSM94443 c.2413C>A p.L805I Substitution - Missense 7:43450842-43450842 + C086 COSM5532249 c.1016G>A p.R339Q Substitution - Missense 7:43442600-43442600 + TCGA-AB-2925-03 COSM1318978 c.4754C>T p.S1585L Substitution - Missense 7:43561859-43561859 + TCGA-CA-6718-01 COSM1089818 c.4663C>T p.R1555W Substitution - Missense 7:43554744-43554744 + TCGA-EE-A2GC-06 COSM3638824 c.4059C>T p.I1353I Substitution - coding silent 7:43541202-43541202 + TCGA-ER-A19E-06 COSM3230339 c.3050G>A p.R1017Q Substitution - Missense 7:43469056-43469056 + TCGA-60-2719-01 COSM746860 c.2612G>C p.R871T Substitution - Missense 7:43456408-43456408 + TCGA-G4-6314-01 COSM3412053 c.174C>T p.H58H Substitution - coding silent 7:43311909-43311909 + CN-AML-CR-50-Dx COSM4417663 c.2904T>C p.H968H Substitution - coding silent 7:43466559-43466559 + 02-P170 COSM4587403 c.1733C>T p.A578V Substitution - Missense 7:43444905-43444905 + S02375 COSM5696685 c.1531G>T p.D511Y Substitution - Missense 7:43444703-43444703 + TCGA-A7-A0CE-01 COSM453066 c.3746A>T p.K1249I Substitution - Missense 7:43507251-43507251 + TCGA-BS-A0UV-01 COSM1089757 c.741T>C p.H247H Substitution - coding silent 7:43407671-43407671 + TCGA-D9-A3Z3-06 COSM3638807 c.3138C>T p.F1046F Substitution - coding silent 7:43479648-43479648 + 8047893 COSM3394768 c.2323G>A p.A775T Substitution - Missense 7:43445495-43445495 + ESO-0013 COSM1254070 c.653A>C p.K218T Substitution - Missense 7:43407583-43407583 + TCGA-18-3409-01 COSM746856 c.2856C>T p.S952S Substitution - coding silent 7:43466511-43466511 + ESO-H63 COSM1254090 c.1684C>T p.R562C Substitution - Missense 7:43444856-43444856 + BD134T COSM5494427 c.245T>A p.M82K Substitution - Missense 7:43311980-43311980 + HCC2998 COSM1673146 c.4570A>C p.N1524H Substitution - Missense 7:43554651-43554651 + TCGA-EE-A3JD-06 COSM453073 c.4254G>A p.T1418T Substitution - coding silent 7:43550450-43550450 + TCGA-D9-A3Z4-01 COSM3230406 c.4296G>A p.T1432T Substitution - coding silent 7:43550492-43550492 + TCGA-EE-A2GH-06 COSM3638786 c.2162C>T p.S721F Substitution - Missense 7:43445334-43445334 + TCGA-EE-A29E-06 COSM3638805 c.3054G>A p.L1018L Substitution - coding silent 7:43469060-43469060 + QC2-20-T2 COSM5652810 c.3813G>A p.S1271S Substitution - coding silent 7:43508078-43508078 + 13542 COSM746850 c.3728T>A p.F1243Y Substitution - Missense 7:43507233-43507233 + T17 COSM5345351 c.1335G>T p.V445V Substitution - coding silent 7:43444507-43444507 + CH-60-T2 COSM1450787 c.1726G>A p.G576S Substitution - Missense 7:43444898-43444898 + TCGA-EE-A3J8-06 COSM3638814 c.3763C>T p.R1255C Substitution - Missense 7:43508028-43508028 + PT48 COSM5932056 c.761A>G p.K254R Substitution - Missense 7:43407691-43407691 + TCGA-A6-5665-01 COSM1450770 c.96A>G p.R32R Substitution - coding silent 7:43311831-43311831 + MO_1232 COSM4410249 c.2058G>A p.S686S Substitution - coding silent 7:43445230-43445230 + CSCC-15-T COSM4528590 c.154G>A p.D52N Substitution - Missense 7:43311889-43311889 + TCGA-AO-A124-01 COSM453084 c.4813C>A p.L1605I Substitution - Missense 7:43561918-43561918 + TCGA-A5-A0GI-01 COSM1089769 c.1669C>T p.R557W Substitution - Missense 7:43444841-43444841 + TCGA-ER-A193-06 COSM3638823 c.4045G>A p.G1349S Substitution - Missense 7:43541188-43541188 + TCGA-AN-A046-01 COSM3832802 c.2816C>A p.S939Y Substitution - Missense 7:43466471-43466471 + 274 COSM145475 c.3670C>T p.R1224* Substitution - Nonsense 7:43507175-43507175 + CHC1754T COSM3230415 c.4486C>A p.R1496R Substitution - coding silent 7:43552312-43552312 + HCC2998 COSM1673146 c.4570A>C p.N1524H Substitution - Missense 7:43554651-43554651 + CSCC-31-T COSM4446183 c.4249-3A>T p.? Unknown 7:43550442-43550442 + TCGA-JX-A3Q0-01 COSM4824252 c.1635G>A p.V545V Substitution - coding silent 7:43444807-43444807 + BD134T COSM5494428 c.245T>A p.M82K Substitution - Missense 7:43311980-43311980 + B89-4 COSM1755275 c.630A>T p.S210S Substitution - coding silent 7:43396888-43396888 + TCGA-GI-A2C8-01 COSM1488557 c.1393G>T p.G465C Substitution - Missense 7:43444565-43444565 + I2L-P9-Tumor-Organoid COSM5358542 c.118C>T p.R40* Substitution - Nonsense 7:43311853-43311853 + ESO-003 COSM1254068 c.4644delC p.R1549fs*11 Deletion - Frameshift 7:43554725-43554725 + S02242 COSM5677486 c.1717G>T p.A573S Substitution - Missense 7:43444889-43444889 + TCGA-CM-6168-01 COSM1450809 c.2735G>C p.G912A Substitution - Missense 7:43463743-43463743 + TCGA-AH-6897-01 COSM3431609 c.3740C>T p.P1247L Substitution - Missense 7:43507245-43507245 + LUAD-B02594 COSM336915 c.4367C>A p.T1456N Substitution - Missense 7:43550563-43550563 + TCGA-AA-3511-01 COSM1450817 c.3103T>G p.F1035V Substitution - Missense 7:43479613-43479613 + YUKAT COSM5407488 c.799G>A p.E267K Substitution - Missense 7:43407729-43407729 + S01170 COSM5667234 c.3826C>A p.Q1276K Substitution - Missense 7:43508091-43508091 + S02242 COSM5677488 c.1751G>A p.G584D Substitution - Missense 7:43444923-43444923 + ESCC_BICR_020T COSM1450774 c.460+1G>A p.? Unknown 7:43320743-43320743 + TCGA-BH-A0DH-01 COSM453069 c.3943_3944delTT p.F1315fs*1 Deletion - Frameshift 7:43509045-43509046 + PT21_1 COSM5900903 c.1769C>T p.T590I Substitution - Missense 7:43444941-43444941 + HDC101 COSM4636156 c.2190C>T p.S730S Substitution - coding silent 7:43445362-43445362 + T3038 COSM4689939 c.4694T>C p.I1565T Substitution - Missense 7:43554775-43554775 + TCGA-D5-6533-01 COSM1450792 c.1749C>T p.D583D Substitution - coding silent 7:43444921-43444921 + TCGA-AP-A0LM-01 COSM1089806 c.4300A>C p.K1434Q Substitution - Missense 7:43550496-43550496 + TCGA-EE-A29M-06 COSM3638776 c.1845G>A p.E615E Substitution - coding silent 7:43445017-43445017 + TCGA-CG-4306-01 COSM3881086 c.2070G>A p.T690T Substitution - coding silent 7:43445242-43445242 + T3021 COSM4689937 c.3953C>T p.S1318L Substitution - Missense 7:43509055-43509055 + TCGA-G3-A25S-01 COSM4926806 c.2811A>G p.S937S Substitution - coding silent 7:43466466-43466466 + YUDON COSM5407495 c.3055G>A p.E1019K Substitution - Missense 7:43469061-43469061 + PD18046a COSM5567303 c.366C>T p.S122S Substitution - coding silent 7:43320648-43320648 + RKO COSM1549816 c.2680A>G p.T894A Substitution - Missense 7:43463688-43463688 + 185T COSM145475 c.3670C>T p.R1224* Substitution - Nonsense 7:43507175-43507175 + T3049 COSM4689930 c.2153G>A p.R718H Substitution - Missense 7:43445325-43445325 + TCGA-GF-A6C9-06 COSM4900005 c.258C>T p.S86S Substitution - coding silent 7:43311993-43311993 + TCGA-EE-A2GE-06 COSM3638732 c.67G>A p.A23T Substitution - Missense 7:43311802-43311802 + TCGA-CM-5861-01 COSM1450787 c.1726G>A p.G576S Substitution - Missense 7:43444898-43444898 + T1844 COSM4689918 c.778G>A p.V260M Substitution - Missense 7:43407708-43407708 + CHC1754T COSM4792895 c.3084G>A p.T1028T Substitution - coding silent 7:43469090-43469090 + TCGA-EA-A50E-01 COSM4822124 c.658G>C p.G220R Substitution - Missense 7:43407588-43407588 + S01170 COSM5667235 c.3826C>A p.Q1276K Substitution - Missense 7:43508091-43508091 + 1344-01-03TD COSM299677 c.3888G>A p.S1296S Substitution - coding silent 7:43508990-43508990 + TCGA-AX-A0J0-01 COSM1089745 c.375T>G p.F125L Substitution - Missense 7:43320657-43320657 + TCGA-FD-A3B7-01 COSM1313090 c.3359T>C p.V1120A Substitution - Missense 7:43493102-43493102 + 587376 COSM1209502 c.3749T>G p.I1250S Substitution - Missense 7:43507254-43507254 + CHC2098T COSM3982185 c.1211G>A p.G404D Substitution - Missense 7:43444383-43444383 + 185T COSM1317192 c.3670C>T p.R1224* Substitution - Nonsense 7:43507175-43507175 + CHEWS013 COSM4587407 c.3125G>A p.R1042Q Substitution - Missense 7:43479635-43479635 + 35M COSM5581300 c.432G>A p.K144K Substitution - coding silent 7:43320714-43320714 + LUAD-S01413 COSM347353 c.1958G>T p.S653I Substitution - Missense 7:43445130-43445130 + HCT-15 COSM347353 c.1958G>T p.S653I Substitution - Missense 7:43445130-43445130 + T3306 COSM4689932 c.2205G>A p.S735S Substitution - coding silent 7:43445377-43445377 + YUOTHO COSM5407490 c.1270G>A p.E424K Substitution - Missense 7:43444442-43444442 + HCC2218 COSM23134 c.4506G>A p.R1502R Substitution - coding silent 7:43552332-43552332 + ESO-859 COSM1239051 c.113C>T p.P38L Substitution - Missense 7:43311848-43311848 + CHC1604T COSM4787863 c.1557G>T p.E519D Substitution - Missense 7:43444729-43444729 + TCGA-EE-A2MS-06 COSM3638799 c.2970C>T p.V990V Substitution - coding silent 7:43468976-43468976 + 107557 COSM94447 c.4617C>A p.S1539R Substitution - Missense 7:43554698-43554698 + CHC1915T COSM3669737 c.2425C>A p.Q809K Substitution - Missense 7:43450854-43450854 + SNU_19_S1 COSM4420003 c.2579C>T p.P860L Substitution - Missense 7:43456375-43456375 + TCGA-HU-A4GU-01 COSM3881068 c.165C>T p.G55G Substitution - coding silent 7:43311900-43311900 + PCSI_0593_Pa_P_526 COSM421450 c.1881G>A p.T627T Substitution - coding silent 7:43445053-43445053 + HX35T COSM1622872 c.79A>G p.R27G Substitution - Missense 7:43311814-43311814 + ESCC-059T COSM3942217 c.363G>T p.L121F Substitution - Missense 7:43320645-43320645 + CHC892T COSM3230269 c.2151G>A p.T717T Substitution - coding silent 7:43445323-43445323 + TCGA-JW-A5VL-01 COSM4847595 c.1538C>T p.S513F Substitution - Missense 7:43444710-43444710 + TCGA-E2-A14X-01 COSM453079 c.4470C>A p.I1490I Substitution - coding silent 7:43552296-43552296 + TCGA-JW-A5VL-01 COSM4847596 c.1538C>T p.S513F Substitution - Missense 7:43444710-43444710 + 2T COSM3715738 c.95G>A p.R32Q Substitution - Missense 7:43311830-43311830 + TCGA-GN-A266-06 COSM3638761 c.1497G>A p.R499R Substitution - coding silent 7:43444669-43444669 + YUSCA COSM3358142 c.4635C>T p.F1545F Substitution - coding silent 7:43554716-43554716 + TCGA-A5-A0GI-01 COSM1089767 c.1669C>T p.R557W Substitution - Missense 7:43444841-43444841 + 0117_CRUK_PC_0117_T1_DNA COSM5424083 c.2871C>T p.F957F Substitution - coding silent 7:43466526-43466526 + CSCC-38-T COSM3638751 c.838G>A p.E280K Substitution - Missense 7:43438039-43438039 + 18T COSM108756 c.4060C>T p.H1354Y Substitution - Missense 7:43541203-43541203 + T96 COSM3638815 c.3763C>T p.R1255C Substitution - Missense 7:43508028-43508028 + T3535 COSM4689916 c.598G>T p.G200* Substitution - Nonsense 7:43396856-43396856 + 610184AML COSM1963681 c.2313C>T p.D771D Substitution - coding silent 7:43445485-43445485 + TCGA-EB-A5SG-06 COSM3923627 c.122A>G p.Y41C Substitution - Missense 7:43311857-43311857 + sysucc-1397T COSM5475056 c.1899C>T p.S633S Substitution - coding silent 7:43445071-43445071 + D15 COSM5006625 c.4553C>T p.A1518V Substitution - Missense 7:43554634-43554634 + 88177 COSM95938 c.507C>A p.A169A Substitution - coding silent 7:43360932-43360932 + LUAD-NYU195 COSM371176 c.2193G>T p.T731T Substitution - coding silent 7:43445365-43445365 + TCGA-EB-A431-01 COSM3230245 c.1755G>A p.A585A Substitution - coding silent 7:43444927-43444927 + LS513 COSM3230247 c.1756G>A p.E586K Substitution - Missense 7:43444928-43444928 + TCGA-AM-5820-01 COSM3762671 c.3228T>C p.A1076A Substitution - coding silent 7:43479738-43479738 + 6P2-1 COSM3734256 c.2098G>T p.A700S Substitution - Missense 7:43445270-43445270 + CHC1704T COSM4803915 c.1929C>A p.G643G Substitution - coding silent 7:43445101-43445101 + SC_9030 COSM5558448 c.3525C>T p.L1175L Substitution - coding silent 7:43501216-43501216 + KM12 COSM1673132 c.100C>T p.R34W Substitution - Missense 7:43311835-43311835 + S02375 COSM5696684 c.1531G>T p.D511Y Substitution - Missense 7:43444703-43444703 + TCGA-BR-7851-01 COSM3881108 c.3830G>A p.R1277Q Substitution - Missense 7:43508095-43508095 + TCGA-B8-5551-01 COSM485345 c.3878G>C p.S1293T Substitution - Missense 7:43508980-43508980 + AOCS-064-1-6 COSM4164334 c.2883C>T p.P961P Substitution - coding silent 7:43466538-43466538 + 8013912 COSM1157746 c.1141C>T p.R381W Substitution - Missense 7:43444313-43444313 + pfg181T COSM4747093 c.168delC p.H58fs*45 Deletion - Frameshift 7:43311903-43311903 + D28 COSM3638740 c.446C>T p.S149L Substitution - Missense 7:43320728-43320728 + HCT15 COSM3230261 c.2024C>T p.A675V Substitution - Missense 7:43445196-43445196 + CSCC-18-T COSM4566737 c.44_45GG>AA p.R15K Substitution - Missense 7:43311779-43311780 + TCGA-G4-6322-01 COSM3698396 c.774C>A p.N258K Substitution - Missense 7:43407704-43407704 + 09-044 COSM305387 c.1740G>A p.E580E Substitution - coding silent 7:43444912-43444912 + sysucc-274T COSM1239054 c.4381C>T p.R1461C Substitution - Missense 7:43550577-43550577 + T578 COSM4689927 c.2139C>T p.F713F Substitution - coding silent 7:43445311-43445311 + MCN168 COSM249065 c.3215G>A p.R1072Q Substitution - Missense 7:43479725-43479725 + C0089T COSM4155750 c.525C>T p.P175P Substitution - coding silent 7:43360950-43360950 + HCC136T COSM1622874 c.4666C>T p.R1556C Substitution - Missense 7:43554747-43554747 + cSCCP4 COSM138616 c.3370C>T p.R1124C Substitution - Missense 7:43493113-43493113 + TCGA-CG-4438-01 COSM3881104 c.3799G>C p.V1267L Substitution - Missense 7:43508064-43508064 + SNU-C2B COSM3230199 c.584_587delCCGT p.V196fs*8 Deletion - Frameshift 7:43396842-43396845 + ICGC_0004 COSM108673 c.1141C>T p.R381W Substitution - Missense 7:43444313-43444313 + sysucc-1365T COSM5766645 c.1071C>T p.T357T Substitution - coding silent 7:43444243-43444243 + OSCC-GB_00020111 COSM3715738 c.95G>A p.R32Q Substitution - Missense 7:43311830-43311830 + Case5 COSM387754 c.1207G>T p.D403Y Substitution - Missense 7:43444379-43444379 + TCGA-60-2708-01 COSM746873 c.1445C>A p.T482N Substitution - Missense 7:43444617-43444617 + LB2518-MEL COSM23116 c.422T>G p.I141S Substitution - Missense 7:43320704-43320704 + TCGA-BR-4357-01 COSM3881073 c.936C>T p.H312H Substitution - coding silent 7:43438137-43438137 + TCGA-GF-A6C9-06 COSM4437876 c.700C>T p.Q234* Substitution - Nonsense 7:43407630-43407630 + HX35T COSM1622871 c.79A>G p.R27G Substitution - Missense 7:43311814-43311814 + 587224 COSM1209490 c.4354G>A p.V1452M Substitution - Missense 7:43550550-43550550 + Gp2D COSM4628642 c.901C>T p.L301L Substitution - coding silent 7:43438102-43438102 + TCGA-D9-A3Z4-01 COSM3230405 c.4296G>A p.T1432T Substitution - coding silent 7:43550492-43550492 + 466 COSM4437243 c.2880C>G p.N960K Substitution - Missense 7:43466535-43466535 + LUAD-NYU508 COSM374830 c.1652G>A p.G551E Substitution - Missense 7:43444824-43444824 + ESO-859 COSM1239054 c.4381C>T p.R1461C Substitution - Missense 7:43550577-43550577 + pfg058T COSM1450767 c.61G>A p.A21T Substitution - Missense 7:43311796-43311796 + STC246 COSM5062467 c.2103G>A p.S701S Substitution - coding silent 7:43445275-43445275 + C086 COSM5532250 c.1016G>A p.R339Q Substitution - Missense 7:43442600-43442600 + TCGA-85-6560-01 COSM746858 c.2806G>A p.G936R Substitution - Missense 7:43466461-43466461 + LUAD-CHTN-3090416 COSM357656 c.488A>T p.Y163F Substitution - Missense 7:43360913-43360913 + TCGA-BR-4361-01 COSM3230258 c.1950G>A p.T650T Substitution - coding silent 7:43445122-43445122 + TCGA-CD-A4MG-01 COSM3881064 c.69G>A p.A23A Substitution - coding silent 7:43311804-43311804 + HCA7 COSM3881068 c.165C>T p.G55G Substitution - coding silent 7:43311900-43311900 + pfg212T COSM4753906 c.1286G>T p.G429V Substitution - Missense 7:43444458-43444458 + 8067508 COSM1450771 c.194G>A p.R65H Substitution - Missense 7:43311929-43311929 + ESO-152 COSM1254082 c.4396-1G>T p.? Unknown 7:43552221-43552221 + LUAD-F00057 COSM74881 c.4462G>A p.A1488T Substitution - Missense 7:43552288-43552288 + TCGA-DK-A1AC-01 COSM1313093 c.3529G>A p.E1177K Substitution - Missense 7:43501220-43501220 + CA1 COSM1166085 c.1670G>A p.R557Q Substitution - Missense 7:43444842-43444842 + CCK81 COSM3230364 c.3695G>A p.R1232H Substitution - Missense 7:43507200-43507200 + TCGA-FS-A4FC-06 COSM3638816 c.3799G>A p.V1267M Substitution - Missense 7:43508064-43508064 + SS6003308 COSM3982185 c.1211G>A p.G404D Substitution - Missense 7:43444383-43444383 + TCGA-BR-4371-01 COSM3230183 c.239C>T p.T80M Substitution - Missense 7:43311974-43311974 + TCGA-18-3409-01 COSM746846 c.4533G>A p.V1511V Substitution - coding silent 7:43554614-43554614 + TCGA-EE-A180-06 COSM138616 c.3370C>T p.R1124C Substitution - Missense 7:43493113-43493113 + TCGA-33-4583-01 COSM746879 c.533C>A p.T178K Substitution - Missense 7:43360958-43360958 + S02274 COSM5682583 c.1675C>A p.H559N Substitution - Missense 7:43444847-43444847 + LS411 COSM3230241 c.1704C>T p.H568H Substitution - coding silent 7:43444876-43444876 + TCGA-AO-A124-01 COSM453083 c.4813C>A p.L1605I Substitution - Missense 7:43561918-43561918 + TCGA-AP-A0LM-01 COSM1089818 c.4663C>T p.R1555W Substitution - Missense 7:43554744-43554744 + TCGA-EE-A3J5-06 COSM3638798 c.2940C>T p.S980S Substitution - coding silent 7:43468946-43468946 + PDA_098 COSM453058 c.181G>A p.V61I Substitution - Missense 7:43311916-43311916 + TCGA-66-2780-01 COSM746874 c.1354G>T p.A452S Substitution - Missense 7:43444526-43444526 + TCGA-FD-A3B4-01 COSM1313094 c.3763C>A p.R1255S Substitution - Missense 7:43508028-43508028 + CSCC-29-T COSM4570068 c.2318T>G p.L773R Substitution - Missense 7:43445490-43445490 + PT48 COSM5932057 c.761A>G p.K254R Substitution - Missense 7:43407691-43407691 + HDC90 COSM4637518 c.4321G>A p.E1441K Substitution - Missense 7:43550517-43550517 + TCGA-CC-A7IG-01 COSM4943035 c.1859C>A p.P620H Substitution - Missense 7:43445031-43445031 + Sample_1 COSM5021543 c.801+6T>A p.? Unknown 7:43407737-43407737 + TCGA-D3-A1Q4-06 COSM3638829 c.4644C>T p.L1548L Substitution - coding silent 7:43554725-43554725 + CSCC-44-T COSM4503275 c.636C>T p.F212F Substitution - coding silent 7:43407566-43407566 + TCGA-EB-A430-01 COSM3638803 c.3013G>A p.D1005N Substitution - Missense 7:43469019-43469019 + TCGA-EI-6917-01 COSM1963680 c.2313C>T p.D771D Substitution - coding silent 7:43445485-43445485 + TCGA-HU-A4GU-01 COSM3881067 c.165C>T p.G55G Substitution - coding silent 7:43311900-43311900 + CSCC-32-T COSM23131 c.2513G>A p.R838Q Substitution - Missense 7:43456309-43456309 + LP6005334-DNA_E01 COSM1488558 c.2861C>T p.A954V Substitution - Missense 7:43466516-43466516 + TCGA-CG-5726-01 COSM3881069 c.760A>G p.K254E Substitution - Missense 7:43407690-43407690 + YUKAT COSM5407486 c.724C>T p.P242S Substitution - Missense 7:43407654-43407654 + 95 COSM5011741 c.3585C>A p.S1195R Substitution - Missense 7:43501276-43501276 + RK050_C01 COSM1635310 c.1279G>A p.D427N Substitution - Missense 7:43444451-43444451 + TCGA-CD-5801-01 COSM3881089 c.2450T>G p.L817R Substitution - Missense 7:43450879-43450879 + CSCC-31-T COSM4446184 c.4249-3A>T p.? Unknown 7:43550442-43550442 + CSCC-17-T COSM4495815 c.4614C>T p.S1538S Substitution - coding silent 7:43554695-43554695 + TCGA-E2-A14X-01 COSM453080 c.4470C>A p.I1490I Substitution - coding silent 7:43552296-43552296 + TCGA-G4-6315-01 COSM1450798 c.1945G>A p.D649N Substitution - Missense 7:43445117-43445117 + TCGA-EE-A29L-06 COSM3638772 c.1798C>T p.L600F Substitution - Missense 7:43444970-43444970 + TCGA-RA-A741-01 COSM1488556 c.1393G>T p.G465C Substitution - Missense 7:43444565-43444565 + TCGA-BR-4184-01 COSM3881112 c.4092G>T p.R1364S Substitution - Missense 7:43541235-43541235 + 1_RESISTANT COSM23131 c.2513G>A p.R838Q Substitution - Missense 7:43456309-43456309 + HCC098T COSM5806724 c.2229C>A p.N743K Substitution - Missense 7:43445401-43445401 + YUWIA COSM5407497 c.3243A>G p.E1081E Substitution - coding silent 7:43492083-43492083 + TCGA-ED-A7PZ-01 COSM4917021 c.2192C>A p.T731K Substitution - Missense 7:43445364-43445364 + ESO-536 COSM1254087 c.2069C>T p.T690M Substitution - Missense 7:43445241-43445241 + TCGA-E9-A1NA-01 COSM1488560 c.3682G>C p.E1228Q Substitution - Missense 7:43507187-43507187 + TCGA-CA-6717-01 COSM1450784 c.873C>T p.R291R Substitution - coding silent 7:43438074-43438074 + CAL27 COSM3230410 c.4343T>G p.V1448G Substitution - Missense 7:43550539-43550539 + CN-AML-08-T COSM3762672 c.3228T>C p.A1076A Substitution - coding silent 7:43479738-43479738 + CSCC-55-T COSM4514648 c.982C>T p.P328S Substitution - Missense 7:43442566-43442566 + TCGA-FS-A4F5-06 COSM249065 c.3215G>A p.R1072Q Substitution - Missense 7:43479725-43479725 + sysucc-773T COSM5460364 c.2448C>G p.S816S Substitution - coding silent 7:43450877-43450877 + YUMILAN COSM5407504 c.4519G>A p.D1507N Substitution - Missense 7:43554600-43554600 + pfg125T COSM4753908 c.1765T>C p.S589P Substitution - Missense 7:43444937-43444937 + SW948 COSM1450791 c.1749C>T p.D583D Substitution - coding silent 7:43444921-43444921 + LUAD-RT-S01813 COSM383483 c.365C>A p.S122Y Substitution - Missense 7:43320647-43320647 + SW948 COSM1450792 c.1749C>T p.D583D Substitution - coding silent 7:43444921-43444921 + 134427 COSM325484 c.2233G>C p.A745P Substitution - Missense 7:43445405-43445405 + TARGET-30-PARDIW COSM1285342 c.4490A>G p.N1497S Substitution - Missense 7:43552316-43552316 + BICR_22 COSM3230409 c.4343T>G p.V1448G Substitution - Missense 7:43550539-43550539 + TCGA-EE-A2GR-06 COSM3638733 c.98G>C p.R33P Substitution - Missense 7:43311833-43311833 + TCGA-DB-A64W-01 COSM3929045 c.1095G>A p.Q365Q Substitution - coding silent 7:43444267-43444267 + SC_9047 COSM5567303 c.366C>T p.S122S Substitution - coding silent 7:43320648-43320648 + TCGA-EE-A3JD-06 COSM4393961 c.687G>A p.L229L Substitution - coding silent 7:43407617-43407617 + TCGA-EE-A3J5-06 COSM3638797 c.2940C>T p.S980S Substitution - coding silent 7:43468946-43468946 + TCGA-EE-A182-06 COSM3638810 c.3145C>T p.P1049S Substitution - Missense 7:43479655-43479655 + TCGA-GN-A26C-01 COSM3638795 c.2826C>A p.N942K Substitution - Missense 7:43466481-43466481 + ESO-0115 COSM1254072 c.4561C>T p.R1521C Substitution - Missense 7:43554642-43554642 + CHC1604T COSM4787864 c.1557G>T p.E519D Substitution - Missense 7:43444729-43444729 + TCGA-BR-4257-01 COSM3881071 c.877A>G p.I293V Substitution - Missense 7:43438078-43438078 + TCGA-CD-5813-01 COSM3881107 c.3814C>T p.R1272W Substitution - Missense 7:43508079-43508079 + CSCC-4-T COSM4458747 c.1098C>A p.D366E Substitution - Missense 7:43444270-43444270 + 49M COSM5591252 c.2584G>A p.A862T Substitution - Missense 7:43456380-43456380 + TCGA-DK-A1AC-01 COSM1313092 c.3529G>A p.E1177K Substitution - Missense 7:43501220-43501220 + HCC098T COSM5806723 c.2229C>A p.N743K Substitution - Missense 7:43445401-43445401 + YUMILAN COSM5407505 c.4519G>A p.D1507N Substitution - Missense 7:43554600-43554600 + TCGA-BH-A0C1-01 COSM453060 c.1375G>T p.A459S Substitution - Missense 7:43444547-43444547 + TCGA-12-0821-01 COSM3412057 c.457G>C p.E153Q Substitution - Missense 7:43320739-43320739 + SC_9060 COSM5559754 c.1698G>T p.L566L Substitution - coding silent 7:43444870-43444870 + TCGA-D1-A17F-01 COSM1089811 c.4429G>T p.A1477S Substitution - Missense 7:43552255-43552255 + LUAD-E00443 COSM364064 c.4254G>T p.T1418T Substitution - coding silent 7:43550450-43550450 + BD188T COSM5500014 c.447G>A p.S149S Substitution - coding silent 7:43320729-43320729 + PD18259a COSM3230286 c.2295C>T p.G765G Substitution - coding silent 7:43445467-43445467 + Pat_15_B COSM5872718 c.4781_4782delTA p.L1594fs*12 Deletion - Frameshift 7:43561886-43561887 + sysucc-1397T COSM5475057 c.1899C>T p.S633S Substitution - coding silent 7:43445071-43445071 + AOCS-034-1-0 COSM4164336 c.4652G>C p.S1551T Substitution - Missense 7:43554733-43554733 + TCGA-FW-A3R5-06 COSM3923635 c.3865G>A p.G1289S Substitution - Missense 7:43508130-43508130 + TCGA-FU-A3WB-01 COSM4843833 c.2923C>T p.R975* Substitution - Nonsense 7:43468929-43468929 + TCGA-CM-6168-01 COSM1450810 c.2735G>C p.G912A Substitution - Missense 7:43463743-43463743 + TCGA-G4-6315-01 COSM1450834 c.4562G>A p.R1521H Substitution - Missense 7:43554643-43554643 + HCC021T COSM5815543 c.960C>G p.S320R Substitution - Missense 7:43442544-43442544 + 8048567 COSM226173 c.2087C>T p.S696L Substitution - Missense 7:43445259-43445259 + AOCS-034-3-8 COSM4164337 c.4652G>C p.S1551T Substitution - Missense 7:43554733-43554733 + 2734_T COSM3950518 c.4308G>A p.K1436K Substitution - coding silent 7:43550504-43550504 + TCGA-BS-A0UV-01 COSM1089794 c.3769G>A p.D1257N Substitution - Missense 7:43508034-43508034 + SNU-C2B COSM3230200 c.584_587delCCGT p.V196fs*8 Deletion - Frameshift 7:43396842-43396845 + KYSE-180 COSM3230226 c.1358C>T p.P453L Substitution - Missense 7:43444530-43444530 + TCGA-EB-A431-01 COSM3230246 c.1755G>A p.A585A Substitution - coding silent 7:43444927-43444927 + CCK81 COSM3230363 c.3695G>A p.R1232H Substitution - Missense 7:43507200-43507200 + DM79 COSM3638800 c.2970C>T p.V990V Substitution - coding silent 7:43468976-43468976 + T1 COSM5618676 c.2550C>T p.H850H Substitution - coding silent 7:43456346-43456346 + CSCC-7-T COSM4506926 c.733C>T p.P245S Substitution - Missense 7:43407663-43407663 + TCGA-EE-A29E-06 COSM3638770 c.1713C>T p.P571P Substitution - coding silent 7:43444885-43444885 + 19 COSM5746716 c.68C>T p.A23V Substitution - Missense 7:43311803-43311803 + ESCC_BICR_059T COSM3230175 c.136G>A p.D46N Substitution - Missense 7:43311871-43311871 + TCGA-FW-A3R5-06 COSM1450835 c.4627G>A p.E1543K Substitution - Missense 7:43554708-43554708 + Sample_1 COSM5021542 c.801+6T>A p.? Unknown 7:43407737-43407737 + 12-P279 COSM4587410 c.3432A>G p.T1144T Substitution - coding silent 7:43493175-43493175 + TCGA-F4-6856-01 COSM1254075 c.2996G>A p.R999H Substitution - Missense 7:43469002-43469002 + CSCC-18-T COSM4475978 c.2031C>T p.C677C Substitution - coding silent 7:43445203-43445203 + TCGA-AN-A046-01 COSM3832800 c.2007T>C p.S669S Substitution - coding silent 7:43445179-43445179 + sysucc-1317T COSM5450383 c.3437+10G>A p.? Unknown 7:43493190-43493190 + TCGA-D5-6532-01 COSM1450793 c.1785G>A p.S595S Substitution - coding silent 7:43444957-43444957 + 116 COSM1741473 c.28-1G>A p.? Unknown 7:43311762-43311762 + TCGA-14-1455 COSM2155582 c.2163C>T p.S721S Substitution - coding silent 7:43445335-43445335 + TCGA-G4-6315-01 COSM1450797 c.1945G>A p.D649N Substitution - Missense 7:43445117-43445117 + PTC-53C COSM3230409 c.4343T>G p.V1448G Substitution - Missense 7:43550539-43550539 + TCGA-BR-8369-01 COSM3881077 c.1046-1G>T p.? Unknown 7:43444217-43444217 + S00339 COSM5657404 c.4655A>G p.N1552S Substitution - Missense 7:43554736-43554736 + 274-01-3TD COSM145475 c.3670C>T p.R1224* Substitution - Nonsense 7:43507175-43507175 + TCGA-66-2754-01 COSM746862 c.2322C>A p.A774A Substitution - coding silent 7:43445494-43445494 + Sample_1 COSM4997689 c.1177C>A p.P393T Substitution - Missense 7:43444349-43444349 + PCSI_0090_Pa_P COSM3381938 c.3100-5C>T p.? Unknown 7:43479605-43479605 + TCGA-CC-A123-01 COSM4915332 c.1579T>A p.S527T Substitution - Missense 7:43444751-43444751 + TCGA-DM-A1D7-01 COSM1450816 c.3010C>T p.R1004W Substitution - Missense 7:43469016-43469016 + LOVO COSM4362421 c.3890G>A p.R1297Q Substitution - Missense 7:43508992-43508992 + CHC1704T COSM4803915 c.1929C>A p.G643G Substitution - coding silent 7:43445101-43445101 + LUAD-S01356 COSM398351 c.3810T>C p.Y1270Y Substitution - coding silent 7:43508075-43508075 + TCGA-EE-A2GC-06 COSM3638765 c.1529G>A p.G510E Substitution - Missense 7:43444701-43444701 + ESCC_94 COSM5637449 c.4218T>A p.T1406T Substitution - coding silent 7:43541968-43541968 + SJOS001120_D1 COSM3230188 c.435C>T p.I145I Substitution - coding silent 7:43320717-43320717 + T3104 COSM3230257 c.1950G>A p.T650T Substitution - coding silent 7:43445122-43445122 + TCGA-EE-A29E-06 COSM1719044 c.2513G>A p.R838Q Substitution - Missense 7:43456309-43456309 + ESO-152 COSM1254083 c.4396-1G>T p.? Unknown 7:43552221-43552221 + HCC2998 COSM1673144 c.4486C>T p.R1496W Substitution - Missense 7:43552312-43552312 + TCGA-DA-A1HV-06 COSM3638827 c.4470C>T p.I1490I Substitution - coding silent 7:43552296-43552296 + NCI-H460 COSM1196935 c.358G>T p.V120F Substitution - Missense 7:43320640-43320640 + CHC1754T COSM3230415 c.4486C>A p.R1496R Substitution - coding silent 7:43552312-43552312 + TCGA-CM-6168-01 COSM1450813 c.2764G>T p.E922* Substitution - Nonsense 7:43463772-43463772 + B111-Tumor COSM1755278 c.1804G>A p.E602K Substitution - Missense 7:43444976-43444976 + 35M COSM4470066 c.1638C>T p.I546I Substitution - coding silent 7:43444810-43444810 + CSCC-16-T COSM4455109 c.671A>G p.N224S Substitution - Missense 7:43407601-43407601 + TCGA-CZ-4865-01 COSM3366930 c.261C>A p.Y87* Substitution - Nonsense 7:43311996-43311996 + 6P2-1 COSM3734255 c.2098G>T p.A700S Substitution - Missense 7:43445270-43445270 + B111 COSM1755279 c.1804G>A p.E602K Substitution - Missense 7:43444976-43444976 + TCGA-B5-A11E-01 COSM1089752 c.604C>T p.R202W Substitution - Missense 7:43396862-43396862 + SJOS001120_D1 COSM3230187 c.435C>T p.I145I Substitution - coding silent 7:43320717-43320717 + S02290 COSM5686826 c.3649G>A p.A1217T Substitution - Missense 7:43507154-43507154 + TCGA-CM-6161-01 COSM1450775 c.661A>G p.M221V Substitution - Missense 7:43407591-43407591 + SA237 COSM212887 c.115C>A p.L39I Substitution - Missense 7:43311850-43311850 + B81-1-Tumor COSM1755276 c.1731C>T p.S577S Substitution - coding silent 7:43444903-43444903 + SJRHB005_D COSM3738415 c.60C>T p.A20A Substitution - coding silent 7:43311795-43311795 + TCGA-AC-A2QH-01 COSM3832794 c.577G>A p.D193N Substitution - Missense 7:43396835-43396835 + TCGA-EA-A50E-01 COSM4822123 c.658G>C p.G220R Substitution - Missense 7:43407588-43407588 + COLO678 COSM3230267 c.2150C>T p.T717M Substitution - Missense 7:43445322-43445322 + 12T COSM108673 c.1141C>T p.R381W Substitution - Missense 7:43444313-43444313 + PT48 COSM5932058 c.4259G>A p.R1420K Substitution - Missense 7:43550455-43550455 + Pat_08_B COSM5872712 c.266C>T p.S89F Substitution - Missense 7:43312001-43312001 + YUKAT COSM5407499 c.3508G>A p.V1170I Substitution - Missense 7:43500769-43500769 + ESO-859 COSM1239053 c.4381C>T p.R1461C Substitution - Missense 7:43550577-43550577 + DLD1 COSM1673134 c.1958G>T p.S653I Substitution - Missense 7:43445130-43445130 + T3505 COSM4689923 c.1900G>A p.G634R Substitution - Missense 7:43445072-43445072 + T3021 COSM4689938 c.3953C>T p.S1318L Substitution - Missense 7:43509055-43509055 + SJOS001112_M2 COSM4997690 c.1177C>A p.P393T Substitution - Missense 7:43444349-43444349 + CHC1754T COSM3230416 c.4486C>A p.R1496R Substitution - coding silent 7:43552312-43552312 + ESCC_BICR_059T COSM3230174 c.136G>A p.D46N Substitution - Missense 7:43311871-43311871 + CSCC-35-T COSM4524505 c.1276G>A p.G426R Substitution - Missense 7:43444448-43444448 + 587220 COSM1209488 c.1931C>T p.A644V Substitution - Missense 7:43445103-43445103 + CSCC-32-T COSM4542963 c.328G>A p.D110N Substitution - Missense 7:43312063-43312063 + 3N50-VS-3T50 COSM4983180 c.579T>G p.D193E Substitution - Missense 7:43396837-43396837 + ESCC_BICR_020T COSM1450773 c.460+1G>A p.? Unknown 7:43320743-43320743 + TCGA-06-2558-01 COSM3230296 c.2352G>A p.P784P Substitution - coding silent 7:43445524-43445524 + HCC2218 COSM23134 c.4506G>A p.R1502R Substitution - coding silent 7:43552332-43552332 + TCGA-13-0904-01 COSM71038 c.2575C>G p.R859G Substitution - Missense 7:43456371-43456371 + TCGA-18-3409-01 COSM746857 c.2856C>T p.S952S Substitution - coding silent 7:43466511-43466511 + PD7436a COSM3720179 c.4420G>A p.V1474M Substitution - Missense 7:43552246-43552246 + BD188T COSM5500013 c.447G>A p.S149S Substitution - coding silent 7:43320729-43320729 + YUGURT COSM3638765 c.1529G>A p.G510E Substitution - Missense 7:43444701-43444701 + CSCC-49-T COSM4493307 c.412C>T p.R138W Substitution - Missense 7:43320694-43320694 + TCGA-B5-A11E-01 COSM1089737 c.299G>T p.W100L Substitution - Missense 7:43312034-43312034 + TCGA-06-0173 COSM2150404 c.3170G>A p.R1057H Substitution - Missense 7:43479680-43479680 + TARGET-30-PARDIW COSM1285343 c.4490A>G p.N1497S Substitution - Missense 7:43552316-43552316 + TCGA-AN-A046-01 COSM3832797 c.1294T>A p.S432T Substitution - Missense 7:43444466-43444466 + D12 COSM5006846 c.15G>C p.L5L Substitution - coding silent 7:43243920-43243920 + TCGA-A7-A2KD-01 COSM3832796 c.972C>T p.G324G Substitution - coding silent 7:43442556-43442556 + TCGA-AG-A002-01 COSM261254 c.4141G>T p.E1381* Substitution - Nonsense 7:43541891-43541891 + TCGA-AG-3892-01 COSM257099 c.3367C>A p.L1123I Substitution - Missense 7:43493110-43493110 + TCGA-34-5234-01 COSM746854 c.2885A>C p.E962A Substitution - Missense 7:43466540-43466540 + TCGA-FD-A3B7-01 COSM1313091 c.3359T>C p.V1120A Substitution - Missense 7:43493102-43493102 + TCGA-F4-6808-01 COSM1450819 c.3694C>T p.R1232C Substitution - Missense 7:43507199-43507199 + CSCC-37-T COSM4490601 c.3665C>T p.P1222L Substitution - Missense 7:43507170-43507170 + 3N50-VS-3T50 COSM4983182 c.3590C>G p.S1197C Substitution - Missense 7:43501281-43501281 + TCGA-46-6025-01 COSM746876 c.600A>G p.G200G Substitution - coding silent 7:43396858-43396858 + 12-P279 COSM4587409 c.3432A>G p.T1144T Substitution - coding silent 7:43493175-43493175 + TCGA-56-6545-01 COSM746845 c.4592T>A p.L1531Q Substitution - Missense 7:43554673-43554673 + TCGA-CG-5726-01 COSM3881070 c.760A>G p.K254E Substitution - Missense 7:43407690-43407690 + TCGA-AX-A05Z-01 COSM1089820 c.4663C>T p.R1555W Substitution - Missense 7:43554744-43554744 + TCGA-DA-A1I5-06 COSM3638773 c.1816G>A p.V606M Substitution - Missense 7:43444988-43444988 + HCC159T COSM5806724 c.2229C>A p.N743K Substitution - Missense 7:43445401-43445401 + sysucc-1240T COSM5766026 c.1829C>T p.P610L Substitution - Missense 7:43445001-43445001 + NOKSI COSM4595576 c.2302C>A p.P768T Substitution - Missense 7:43445474-43445474 + TCGA-61-1900-01 COSM1329821 c.3669C>A p.Y1223* Substitution - Nonsense 7:43507174-43507174 + TCGA-FW-A3R5-06 COSM3923632 c.278C>T p.S93F Substitution - Missense 7:43312013-43312013 + TCGA-BP-4770-01 COSM485352 c.4383C>T p.R1461R Substitution - coding silent 7:43550579-43550579 + TCGA-D3-A3MU-06 COSM3638756 c.1192G>A p.E398K Substitution - Missense 7:43444364-43444364 + PT46 COSM5928931 c.3085G>A p.D1029N Substitution - Missense 7:43469091-43469091 + C086 COSM5532247 c.1300G>A p.G434R Substitution - Missense 7:43444472-43444472 + ATL083 COSM5710592 c.3458G>A p.R1153Q Substitution - Missense 7:43500719-43500719 + PD11743a COSM5790146 c.3925A>C p.N1309H Substitution - Missense 7:43509027-43509027 + TCGA-HU-A4G8-01 COSM3230339 c.3050G>A p.R1017Q Substitution - Missense 7:43469056-43469056 + 98711 COSM320792 c.2104T>C p.C702R Substitution - Missense 7:43445276-43445276 + TCGA-EE-A29Q-06 COSM3230174 c.136G>A p.D46N Substitution - Missense 7:43311871-43311871 + PT15_1 COSM3638751 c.838G>A p.E280K Substitution - Missense 7:43438039-43438039 + TCGA-EB-A5SG-06 COSM3923628 c.122A>G p.Y41C Substitution - Missense 7:43311857-43311857 + CSCC-11-T COSM4527442 c.1464G>A p.E488E Substitution - coding silent 7:43444636-43444636 + TCGA-CC-A123-01 COSM4915331 c.1579T>A p.S527T Substitution - Missense 7:43444751-43444751 + sysucc-274T COSM1239053 c.4381C>T p.R1461C Substitution - Missense 7:43550577-43550577 + TCGA-FP-A4BE-01 COSM3881097 c.3066G>A p.R1022R Substitution - coding silent 7:43469072-43469072 + CSCC-4-T COSM4458748 c.1098C>A p.D366E Substitution - Missense 7:43444270-43444270 + TCGA-GF-A6C9-06 COSM4900006 c.258C>T p.S86S Substitution - coding silent 7:43311993-43311993 + ESCC_162 COSM5647926 c.404G>C p.G135A Substitution - Missense 7:43320686-43320686 + CHC1754T COSM3230416 c.4486C>A p.R1496R Substitution - coding silent 7:43552312-43552312 + HCT15 COSM3230262 c.2024C>T p.A675V Substitution - Missense 7:43445196-43445196 + TCGA-CM-5861-01 COSM1450788 c.1726G>A p.G576S Substitution - Missense 7:43444898-43444898 + H460 COSM1196934 c.358G>T p.V120F Substitution - Missense 7:43320640-43320640 + LUAD_E01166 COSM390862 c.1160C>T p.S387F Substitution - Missense 7:43444332-43444332 + Pat_08_A COSM5872711 c.266C>T p.S89F Substitution - Missense 7:43312001-43312001 + S02246 COSM5679197 c.691A>T p.I231F Substitution - Missense 7:43407621-43407621 + TCGA-JW-A5VJ-01 COSM4818486 c.1249G>T p.E417* Substitution - Nonsense 7:43444421-43444421 + 1N05-VS-1T05 COSM4972914 c.219C>T p.V73V Substitution - coding silent 7:43311954-43311954 + TCGA-EB-A430-01 COSM3638740 c.446C>T p.S149L Substitution - Missense 7:43320728-43320728 + TCGA-BR-4361-01 COSM3881065 c.149A>G p.N50S Substitution - Missense 7:43311884-43311884 + TCGA-AZ-4615-01 COSM3698406 c.4783A>G p.T1595A Substitution - Missense 7:43561888-43561888 + HCT8 COSM3230261 c.2024C>T p.A675V Substitution - Missense 7:43445196-43445196 + 824-01-1TD COSM5419075 c.416G>A p.G139D Substitution - Missense 7:43320698-43320698 + 22 COSM5022506 c.605G>A p.R202Q Substitution - Missense 7:43396863-43396863 + TCGA-D3-A5GO-06 COSM3638738 c.391C>T p.R131C Substitution - Missense 7:43320673-43320673 + PCSI_0090_Pa_X COSM3381938 c.3100-5C>T p.? Unknown 7:43479605-43479605 + S01522 COSM188687 c.1125C>T p.S375S Substitution - coding silent 7:43444297-43444297 + HCC28 COSM1622872 c.79A>G p.R27G Substitution - Missense 7:43311814-43311814 + Gp5D COSM3230407 c.4316A>G p.Y1439C Substitution - Missense 7:43550512-43550512 + TCGA-02-2486-01 COSM3412055 c.367G>A p.E123K Substitution - Missense 7:43320649-43320649 + TCGA-HU-A4GT-01 COSM3881096 c.2897T>C p.V966A Substitution - Missense 7:43466552-43466552 + CSCC-7-T COSM4473203 c.1835C>T p.A612V Substitution - Missense 7:43445007-43445007 + NCI-H2087 COSM23132 c.2526C>A p.H842Q Substitution - Missense 7:43456322-43456322 + HCT15 COSM1673141 c.4087A>G p.T1363A Substitution - Missense 7:43541230-43541230 + TCGA-85-6560-01 COSM746848 c.3862G>T p.E1288* Substitution - Nonsense 7:43508127-43508127 + 2334202 COSM320793 c.4621C>A p.P1541T Substitution - Missense 7:43554702-43554702 + TCGA-B6-A0RE-01 COSM453068 c.3888G>A p.S1296S Substitution - coding silent 7:43508990-43508990 + PCSI_0069_Pa_X COSM3381935 c.2332G>A p.G778R Substitution - Missense 7:43445504-43445504 + AOCS-034-3-8 COSM4164336 c.4652G>C p.S1551T Substitution - Missense 7:43554733-43554733 + S02139 COSM5674606 c.521C>G p.T174S Substitution - Missense 7:43360946-43360946 + TCGA-34-5234-01 COSM746855 c.2885A>C p.E962A Substitution - Missense 7:43466540-43466540 + TCGA-EE-A29Q-06 COSM3230175 c.136G>A p.D46N Substitution - Missense 7:43311871-43311871 + C086 COSM5532252 c.4208T>G p.L1403* Substitution - Nonsense 7:43541958-43541958 + LUAD-F00162 COSM366647 c.1717G>A p.A573T Substitution - Missense 7:43444889-43444889 + TCGA-AH-6903-01 COSM1963681 c.2313C>T p.D771D Substitution - coding silent 7:43445485-43445485 + TCGA-61-2110-01 COSM71039 c.4342G>A p.V1448M Substitution - Missense 7:43550538-43550538 + TCGA-F4-6856-01 COSM1254074 c.2996G>A p.R999H Substitution - Missense 7:43469002-43469002 + 61 COSM5737911 c.4685G>T p.W1562L Substitution - Missense 7:43554766-43554766 + S00339 COSM5657405 c.4655A>G p.N1552S Substitution - Missense 7:43554736-43554736 + TCGA-BR-8380-01 COSM3881082 c.1949C>T p.T650M Substitution - Missense 7:43445121-43445121 + CSCC-4-T COSM4522150 c.1149G>A p.E383E Substitution - coding silent 7:43444321-43444321 + T3099 COSM281662 c.1974C>T p.S658S Substitution - coding silent 7:43445146-43445146 + PD6599a COSM3719840 c.2650C>T p.R884W Substitution - Missense 7:43456446-43456446 + Pat_01_A COSM5872713 c.545C>T p.S182L Substitution - Missense 7:43360970-43360970 + TCGA-DC-4749-01 COSM3431606 c.2212G>A p.D738N Substitution - Missense 7:43445384-43445384 + TCGA-EE-A182-06 COSM3638809 c.3145C>T p.P1049S Substitution - Missense 7:43479655-43479655 + TCGA-BR-4361-01 COSM3881066 c.149A>G p.N50S Substitution - Missense 7:43311884-43311884 + LB2518-MEL COSM23116 c.422T>G p.I141S Substitution - Missense 7:43320704-43320704 + TCGA-FR-A3YO-06 COSM23134 c.4506G>A p.R1502R Substitution - coding silent 7:43552332-43552332 + TCGA-AX-A05Z-01 COSM1089803 c.4224T>G p.T1408T Substitution - coding silent 7:43541974-43541974 + BICR_22 COSM3230410 c.4343T>G p.V1448G Substitution - Missense 7:43550539-43550539 + PT15_1 COSM3638752 c.838G>A p.E280K Substitution - Missense 7:43438039-43438039 + CSCC-27-T COSM4470066 c.1638C>T p.I546I Substitution - coding silent 7:43444810-43444810 + BD236T COSM5518751 c.2780A>G p.Q927R Substitution - Missense 7:43463788-43463788 + LUAD-CHTN-MAD06-00490 COSM358028 c.412_413CG>TC p.R138S Substitution - Missense 7:43320694-43320695 + TCGA-AZ-4315-01 COSM1450777 c.664T>C p.F222L Substitution - Missense 7:43407594-43407594 + TCGA-DM-A1D7-01 COSM1450815 c.3010C>T p.R1004W Substitution - Missense 7:43469016-43469016 + Gp5D COSM3230408 c.4316A>G p.Y1439C Substitution - Missense 7:43550512-43550512 + 471 COSM4437876 c.700C>T p.Q234* Substitution - Nonsense 7:43407630-43407630 + YUWIA COSM5407496 c.3243A>G p.E1081E Substitution - coding silent 7:43492083-43492083 + TCGA-A8-A09W-01 COSM453082 c.4505G>A p.R1502Q Substitution - Missense 7:43552331-43552331 + Pa21C COSM85036 c.4119G>A p.L1373L Substitution - coding silent 7:43541869-43541869 + TCGA-BR-8588-01 COSM3881093 c.2770G>T p.E924* Substitution - Nonsense 7:43463778-43463778 + ESO-0013 COSM1254071 c.653A>C p.K218T Substitution - Missense 7:43407583-43407583 + S00838 COSM5661705 c.97C>G p.R33G Substitution - Missense 7:43311832-43311832 + TCGA-AX-A0J0-01 COSM1089743 c.375T>G p.F125L Substitution - Missense 7:43320657-43320657 + ESO-717 COSM1166086 c.1670G>A p.R557Q Substitution - Missense 7:43444842-43444842 + PT37 COSM5919328 c.1667C>T p.P556L Substitution - Missense 7:43444839-43444839 + B89-4 COSM1755274 c.630A>T p.S210S Substitution - coding silent 7:43396888-43396888 + YUFERY COSM3638811 c.3215G>A p.R1072Q Substitution - Missense 7:43479725-43479725 + LB2518-MEL COSM23131 c.2513G>A p.R838Q Substitution - Missense 7:43456309-43456309 + 070T COSM1730562 c.2307G>A p.W769* Substitution - Nonsense 7:43445479-43445479 + TCGA-D1-A15X-01 COSM1089781 c.2576G>A p.R859H Substitution - Missense 7:43456372-43456372 + TCGA-A6-6780-01 COSM1450832 c.4554G>A p.A1518A Substitution - coding silent 7:43554635-43554635 + B81-1 COSM1755276 c.1731C>T p.S577S Substitution - coding silent 7:43444903-43444903 + CSCC-38-T COSM3638752 c.838G>A p.E280K Substitution - Missense 7:43438039-43438039 + TCGA-FS-A1Z3-06 COSM3638763 c.1506G>A p.E502E Substitution - coding silent 7:43444678-43444678 + pfg011T COSM1643343 c.3368T>C p.L1123P Substitution - Missense 7:43493111-43493111 + PD18259a COSM3230287 c.2295C>T p.G765G Substitution - coding silent 7:43445467-43445467 + 8067508 COSM1450772 c.194G>A p.R65H Substitution - Missense 7:43311929-43311929 + ESCC_76 COSM5635255 c.1375G>C p.A459P Substitution - Missense 7:43444547-43444547 + HCC136 COSM1622873 c.4666C>T p.R1556C Substitution - Missense 7:43554747-43554747 + TCGA-29-1763-01 COSM1329822 c.2330_2352del23 p.S777fs*17 Deletion - Frameshift 7:43445502-43445524 + PCSI_0593_Pa_P_526 COSM421449 c.1881G>A p.T627T Substitution - coding silent 7:43445053-43445053 + SK-MEL-2 COSM1673139 c.3917A>G p.E1306G Substitution - Missense 7:43509019-43509019 + TCGA-G4-6586-01 COSM1450795 c.1815G>A p.T605T Substitution - coding silent 7:43444987-43444987 + CHC1915T COSM3669736 c.2425C>A p.Q809K Substitution - Missense 7:43450854-43450854 + TCGA-EE-A29D-06 COSM3638759 c.1323C>T p.L441L Substitution - coding silent 7:43444495-43444495 + TCGA-CC-A7IG-01 COSM4943034 c.1859C>A p.P620H Substitution - Missense 7:43445031-43445031 + PT48 COSM5932059 c.4259G>A p.R1420K Substitution - Missense 7:43550455-43550455 + TCGA-41-3393-01 COSM3412059 c.1465G>T p.E489* Substitution - Nonsense 7:43444637-43444637 + CHC1915T COSM3669737 c.2425C>A p.Q809K Substitution - Missense 7:43450854-43450854 + LS174T COSM3230283 c.2279C>T p.P760L Substitution - Missense 7:43445451-43445451 + AOCS-034-1-0 COSM4164337 c.4652G>C p.S1551T Substitution - Missense 7:43554733-43554733 + 2492701 COSM4362416 c.1608C>T p.S536S Substitution - coding silent 7:43444780-43444780 + LUAD-S01306 COSM343748 c.55C>A p.L19M Substitution - Missense 7:43311790-43311790 + CCC60 COSM3663196 c.97C>T p.R33C Substitution - Missense 7:43311832-43311832 + TCGA-A8-A0A6-01 COSM3832803 c.3603A>C p.S1201S Substitution - coding silent 7:43501294-43501294 + TCGA-B5-A11E-01 COSM1089739 c.299G>T p.W100L Substitution - Missense 7:43312034-43312034 + CSCC-49-T COSM4548290 c.4434G>A p.R1478R Substitution - coding silent 7:43552260-43552260 + RKO COSM3230337 c.3008A>G p.N1003S Substitution - Missense 7:43469014-43469014 + KYSE-180 COSM3230225 c.1358C>T p.P453L Substitution - Missense 7:43444530-43444530 + 401 COSM4429705 c.3549C>T p.Y1183Y Substitution - coding silent 7:43501240-43501240 + CHC892T COSM3230268 c.2151G>A p.T717T Substitution - coding silent 7:43445323-43445323 + 5 COSM4333360 c.1091T>A p.I364N Substitution - Missense 7:43444263-43444263 + C086 COSM5532255 c.1284G>A p.Q428Q Substitution - coding silent 7:43444456-43444456 + CSCC-20-T COSM4537939 c.2482G>A p.D828N Substitution - Missense 7:43450911-43450911 + S02285 COSM5684984 c.1552G>T p.G518* Substitution - Nonsense 7:43444724-43444724 + RK166_C01 COSM1635309 c.832G>A p.V278M Substitution - Missense 7:43438033-43438033 + 86570 COSM94444 c.2737G>A p.G913R Substitution - Missense 7:43463745-43463745 + S01522 COSM4386978 c.1125C>T p.S375S Substitution - coding silent 7:43444297-43444297 + 587364 COSM1089758 c.905C>T p.S302L Substitution - Missense 7:43438106-43438106 + TCGA-A8-A079-01 COSM453063 c.1741G>T p.E581* Substitution - Nonsense 7:43444913-43444913 + PD8621a COSM2150405 c.3170G>A p.R1057H Substitution - Missense 7:43479680-43479680 + T2991 COSM1254071 c.653A>C p.K218T Substitution - Missense 7:43407583-43407583 + 1N05-VS-1T05 COSM4972913 c.219C>T p.V73V Substitution - coding silent 7:43311954-43311954 + SNU-175 COSM296360 c.2304G>A p.P768P Substitution - coding silent 7:43445476-43445476 + TCGA-06-2558-01 COSM3230295 c.2352G>A p.P784P Substitution - coding silent 7:43445524-43445524 + PCSI_0090_Pa_P COSM3381937 c.3100-5C>T p.? Unknown 7:43479605-43479605 + CSCC-19-T COSM4571067 c.3774T>A p.H1258Q Substitution - Missense 7:43508039-43508039 + TCGA-60-2708-01 COSM746850 c.3728T>A p.F1243Y Substitution - Missense 7:43507233-43507233 + RK308_C01 COSM3638811 c.3215G>A p.R1072Q Substitution - Missense 7:43479725-43479725 + A9 COSM5351419 c.3801G>T p.V1267V Substitution - coding silent 7:43508066-43508066 + KPOPBR-07-T COSM5964073 c.1051G>A p.E351K Substitution - Missense 7:43444223-43444223 + TCGA-AM-5820-01 COSM3698405 c.2066G>T p.S689I Substitution - Missense 7:43445238-43445238 + BD180T COSM5495042 c.1754C>A p.A585E Substitution - Missense 7:43444926-43444926 + TCGA-JX-A3Q0-01 COSM4824253 c.1635G>A p.V545V Substitution - coding silent 7:43444807-43444807 + S02246 COSM5679198 c.691A>T p.I231F Substitution - Missense 7:43407621-43407621 + 40M COSM5585409 c.1317G>A p.G439G Substitution - coding silent 7:43444489-43444489 + IGROV-1 COSM1673138 c.3044A>G p.D1015G Substitution - Missense 7:43469050-43469050 + CSCC-62-T COSM4545748 c.3856G>A p.G1286R Substitution - Missense 7:43508121-43508121 + 466 COSM4437242 c.2880C>G p.N960K Substitution - Missense 7:43466535-43466535 + TCGA-CD-A48C-01 COSM3881079 c.1142G>A p.R381Q Substitution - Missense 7:43444314-43444314 + TCGA-BH-A0W7-01 COSM453064 c.3400G>A p.E1134K Substitution - Missense 7:43493143-43493143 + S00838 COSM5661704 c.97C>G p.R33G Substitution - Missense 7:43311832-43311832 + HCT15 COSM1673142 c.4087A>G p.T1363A Substitution - Missense 7:43541230-43541230 + TCGA-HU-A4GT-01 COSM3881095 c.2897T>C p.V966A Substitution - Missense 7:43466552-43466552 + PT44 COSM5926595 c.728C>T p.A243V Substitution - Missense 7:43407658-43407658 + CSCC-27-T COSM4547233 c.4185G>A p.K1395K Substitution - coding silent 7:43541935-43541935 + CSCC-44-T COSM4490586 c.3662C>T p.S1221F Substitution - Missense 7:43507167-43507167 + HCC127T COSM5822715 c.3934T>A p.Y1312N Substitution - Missense 7:43509036-43509036 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.164441;Hs.164453 7p13 610384

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.E962A c.2885A>C 7 43506139 LUSC A C Missense p.I449L c.1345A>C 7 43484116 HNSC A C Missense p.K218T c.653A>C 7 43447182 ESCA A G IntronicSNV . c.3867-189A>G 7 43548379 CM A G IntronicSNV . c.461-19551A>G 7 43380934 CLL A G Missense p.E477G c.1430A>G 7 43484201 OV A G Missense p.E489G c.1466A>G 7 43484237 LUAD A G Missense p.H92R c.275A>G 7 43351609 COREAD A G Missense p.I293V c.877A>G 7 43477677 STAD A G Missense p.I90V c.268A>G 7 43351602 UCEC A G Missense p.K254E c.760A>G 7 43447289 STAD A G Missense p.N1497S c.4490A>G 7 43591915 NB A G SpliceAcceptorSNV . c.3753-2A>G 7 43547615 UCEC A G Synonymous p.G198G c.594A>G 7 43436451 LUAD A G Synonymous p.G200G c.600A>G 7 43436457 LUSC A G Synonymous p.L1403L c.4209A>G 7 43581558 HNSC A G Synonymous p.S1110S c.3330A>G 7 43531769 LUAD A G Synonymous p.S1110S c.3330A>G 7 43531769 RCCC - A IntronicInsertion . c.2651+1340dupA 7 43497374 CM A T IntronicSNV . c.4019+13296A>T 7 43562016 HC A T IntronicSNV . c.944+4A>T 7 43477748 STAD A T Missense p.I346F c.1036A>T 7 43482219 LUAD A T Missense p.K1249I c.3746A>T 7 43546850 BRCA A T Missense p.K254M c.761A>T 7 43447290 LUAD A T Missense p.T173S c.517A>T 7 43400541 RCCC A T SpliceAcceptorSNV . c.4249-2A>T 7 43590042 OV C A IntronicSNV . c.27+5300C>A 7 43288831 HC C A Missense p.A362D c.1085C>A 7 43483856 LUAD C A Missense p.F1522L c.4566C>A 7 43594246 BRCA C A Missense p.L1058I c.3172C>A 7 43519281 NSCLC C A Missense p.L1605I c.4813C>A 7 43601517 BRCA C A Missense p.L39I c.115C>A 7 43351449 BRCA C A Missense p.N942K c.2826C>A 7 43506080 CM C A Missense p.P1541T c.4621C>A 7 43594301 SCLC C A Missense p.P402H c.1205C>A 7 43483976 STAD C A Missense p.P538T c.1612C>A 7 43484383 LUAD C A Missense p.Q889K c.2665C>A 7 43503272 LUAD C A Missense p.R1255S c.3763C>A 7 43547627 BLCA C A Missense p.R999S c.2995C>A 7 43508600 LUAD C A Missense p.S1221Y c.3662C>A 7 43546766 CM C A Missense p.T178K c.533C>A 7 43400557 LUSC C A Missense p.T482N c.1445C>A 7 43484216 LUSC C A Nonsense p.Y87* c.261C>A 7 43351595 RCCC C A Synonymous p.A1189A c.3567C>A 7 43540857 LUAD C A Synonymous p.A774A c.2322C>A 7 43485093 LUSC C A Synonymous p.I1490I c.4470C>A 7 43591895 BRCA C A Synonymous p.I546I c.1638C>A 7 43484409 LUSC C A Synonymous p.R34R c.100C>A 7 43351434 STAD C A Synonymous p.V83V c.249C>A 7 43351583 LUSC CCACACTAGC - IntronicDeletion . c.27+16504_27+16513delCACACTAGCC 7 43300034 CLL CC TT Missense p.P910S c.2727_2728delinsTT 7 43503334 CM C - Frameshift p.R1549Vfs*11 c.4645delC 7 43594324 ESCA C G Missense p.H1067Q c.3201C>G 7 43519310 LUSC C G Missense p.R1103G c.3307C>G 7 43531746 HNSC C G Missense p.R859G c.2575C>G 7 43495970 OV C G Missense p.S577R c.1731C>G 7 43484502 UCEC C G Synonymous p.P453P c.1359C>G 7 43484130 LUAD C G Synonymous p.R999R c.2997C>G 7 43508602 BLCA - C IntronicInsertion . c.1-65591dupC 7 43217914 CM C T 3-UTRSNV . c.4818+64C>T 7 43601586 CM C T IntronicSNV . c.27+30335C>T 7 43313866 CM C T IntronicSNV . c.27+5402C>T 7 43288933 DLBCL C T IntronicSNV . c.28-30963C>T 7 43320399 CLL C T IntronicSNV . c.460+6459C>T 7 43366800 CLL C T IntronicSNV . c.4709+2943C>T 7 43597332 CLL C T IntronicSNV . c.801+2515C>T 7 43449845 CLL C T Missense p.A108V c.323C>T 7 43351657 UCEC C T Missense p.A547V c.1640C>T 7 43484411 COREAD C T Missense p.A644V c.1931C>T 7 43484702 BRCA C T Missense p.A954V c.2861C>T 7 43506115 BRCA C T Missense p.L244F c.730C>T 7 43447259 CM C T Missense p.L600F c.1798C>T 7 43484569 CM C T Missense p.P1049S c.3145C>T 7 43519254 CM C T Missense p.P227L c.680C>T 7 43447209 CM C T Missense p.P38L c.113C>T 7 43351447 ESCA C T Missense p.R1124C c.3370C>T 7 43532712 CM C T Missense p.R1232C c.3694C>T 7 43546798 PRAD C T Missense p.R1255C c.3763C>T 7 43547627 CM C T Missense p.R1272W c.3814C>T 7 43547678 STAD C T Missense p.R1461C c.4381C>T 7 43590176 ESCA C T Missense p.R1521C c.4561C>T 7 43594241 ESCA C T Missense p.R557W c.1669C>T 7 43484440 UCEC C T Missense p.R562C c.1684C>T 7 43484455 ESCA C T Missense p.R999C c.2995C>T 7 43508600 BRCA C T Missense p.S1585L c.4754C>T 7 43601458 AML C T Missense p.S354F c.1061C>T 7 43483832 CM C T Missense p.S681L c.2042C>T 7 43484813 STAD C T Missense p.S721F c.2162C>T 7 43484933 CM C T Missense p.S86F c.257C>T 7 43351591 CM C T Missense p.S872L c.2615C>T 7 43496010 CM C T Missense p.S89F c.266C>T 7 43351600 CM C T Missense p.T690M c.2069C>T 7 43484840 ESCA C T Missense p.T80M c.239C>T 7 43351573 STAD C T Nonsense p.Q1125* c.3373C>T 7 43532715 CM C T Nonsense p.R1224* c.3670C>T 7 43546774 CLL C T Synonymous p.D737D c.2211C>T 7 43484982 PRAD C T Synonymous p.F1009F c.3027C>T 7 43508632 CM C T Synonymous p.F1036F c.3108C>T 7 43519217 CM C T Synonymous p.F223F c.669C>T 7 43447198 CM C T Synonymous p.H312H c.936C>T 7 43477736 STAD C T Synonymous p.H58H c.174C>T 7 43351508 GBM C T Synonymous p.I1149I c.3447C>T 7 43540307 CM C T Synonymous p.I1353I c.4059C>T 7 43580801 CM C T Synonymous p.I1490I c.4470C>T 7 43591895 CM C T Synonymous p.L1303L c.3907C>T 7 43548608 LUAD C T Synonymous p.L1548L c.4644C>T 7 43594324 CM C T Synonymous p.R1450R c.4350C>T 7 43590145 BRCA C T Synonymous p.R1450R c.4350C>T 7 43590145 HNSC C T Synonymous p.S980S c.2940C>T 7 43508545 CM C T Synonymous p.V990V c.2970C>T 7 43508575 CM G A IntronicSNV . c.1-2527G>A 7 43280978 DLBCL G A IntronicSNV . c.1-96422G>A 7 43187083 CLL G A IntronicSNV . c.27+30405G>A 7 43313936 CM G A Missense p.A1351T c.4051G>A 7 43580793 MB G A Missense p.A1488T c.4462G>A 7 43591887 OV G A Missense p.A23T c.67G>A 7 43351401 CM G A Missense p.A384T c.1150G>A 7 43483921 HNSC G A Missense p.A644T c.1930G>A 7 43484701 BLCA G A Missense p.A745T c.2233G>A 7 43485004 ESCA G A Missense p.A766T c.2296G>A 7 43485067 GBM G A Missense p.D101N c.301G>A 7 43351635 ESCA G A Missense p.D1226N c.3676G>A 7 43546780 CM G A Missense p.D427N c.1279G>A 7 43484050 HC G A Missense p.D46N c.136G>A 7 43351470 CM G A Missense p.D593N c.1777G>A 7 43484548 CM G A Missense p.D649N c.1945G>A 7 43484716 HNSC G A Missense p.D993N c.2977G>A 7 43508582 CM G A Missense p.E1019K c.3055G>A 7 43508660 CM G A Missense p.E1134K c.3400G>A 7 43532742 BRCA G A Missense p.E123K c.367G>A 7 43360248 GBM G A Missense p.E1335K c.4003G>A 7 43548704 MM G A Missense p.E1433K c.4297G>A 7 43590092 CM G A Missense p.E1489K c.4465G>A 7 43591890 HNSC G A Missense p.E280K c.838G>A 7 43477638 CM G A Missense p.E398K c.1192G>A 7 43483963 CM G A Missense p.E417K c.1249G>A 7 43484020 CLL G A Missense p.E596K c.1786G>A 7 43484557 CM G A Missense p.E602K c.1804G>A 7 43484575 CM G A Missense p.E729K c.2185G>A 7 43484956 CM G A Missense p.G132E c.395G>A 7 43360276 LUAD G A Missense p.G1349S c.4045G>A 7 43580787 CM G A Missense p.G1415E c.4244G>A 7 43581593 CM G A Missense p.G1508R c.4522G>A 7 43594202 CM G A Missense p.G198R c.592G>A 7 43436449 CM G A Missense p.G510E c.1529G>A 7 43484300 CM G A Missense p.G643S c.1927G>A 7 43484698 CM G A Missense p.G936R c.2806G>A 7 43506060 LUSC G A Missense p.R1004Q c.3011G>A 7 43508616 CM G A Missense p.R1017Q c.3050G>A 7 43508655 CM G A Missense p.R1057H c.3170G>A 7 43519279 GBM G A Missense p.R1065Q c.3194G>A 7 43519303 UCEC G A Missense p.R1124H c.3371G>A 7 43532713 OV G A Missense p.R1124H c.3371G>A 7 43532713 STAD G A Missense p.R1272Q c.3815G>A 7 43547679 AML G A Missense p.R1450H c.4349G>A 7 43590144 LUAD G A Missense p.R1461H c.4382G>A 7 43590177 BRCA G A Missense p.R1502Q c.4505G>A 7 43591930 BRCA G A Missense p.R40Q c.119G>A 7 43351453 CM G A Missense p.V1448M c.4342G>A 7 43590137 OV G A Missense p.V433M c.1297G>A 7 43484068 LUAD G A Missense p.V606M c.1816G>A 7 43484587 CM G A Missense p.V61I c.181G>A 7 43351515 BRCA G A Missense p.V780M c.2338G>A 7 43485109 STAD G A SpliceDonorSNV . c.2791+1G>A 7 43503399 HNSC G A Synonymous p.A1488A c.4464G>A 7 43591889 AML G A Synonymous p.E411E c.1233G>A 7 43484004 LUAD G A Synonymous p.E502E c.1506G>A 7 43484277 CM G A Synonymous p.E615E c.1845G>A 7 43484616 CM G A Synonymous p.G551G c.1653G>A 7 43484424 CM G A Synonymous p.G91G c.273G>A 7 43351607 LUAD G A Synonymous p.L1290L c.3870G>A 7 43548571 CM G A Synonymous p.L1373L c.4119G>A 7 43581468 PAAD G A Synonymous p.L1391L c.4173G>A 7 43581522 OV G A Synonymous p.L229L c.687G>A 7 43447216 CM G A Synonymous p.L758L c.2274G>A 7 43485045 LUSC G A Synonymous p.P768P c.2304G>A 7 43485075 COREAD G A Synonymous p.P784P c.2352G>A 7 43485123 GBM G A Synonymous p.Q1069Q c.3207G>A 7 43519316 HNSC G A Synonymous p.Q1392Q c.4176G>A 7 43581525 ESCA G A Synonymous p.Q140Q c.420G>A 7 43360301 LUAD G A Synonymous p.R1272R c.3816G>A 7 43547680 CM G A Synonymous p.R251R c.753G>A 7 43447282 CM G A Synonymous p.S1296S c.3888G>A 7 43548589 BRCA G A Synonymous p.S1296S c.3888G>A 7 43548589 COREAD G A Synonymous p.T1418T c.4254G>A 7 43590049 BRCA G A Synonymous p.T1418T c.4254G>A 7 43590049 CM G A Synonymous p.T1535T c.4605G>A 7 43594285 LUAD G A Synonymous p.T492T c.1476G>A 7 43484247 CM G A Synonymous p.T544T c.1632G>A 7 43484403 GBM G A Synonymous p.T627T c.1881G>A 7 43484652 BLCA G A Synonymous p.T690T c.2070G>A 7 43484841 STAD G A Synonymous p.V1037V c.3111G>A 7 43519220 CM G A Synonymous p.V722V c.2166G>A 7 43484937 UCEC G C IntronicSNV . c.1-3930G>C 7 43279575 ALL G C Missense p.A745P c.2233G>C 7 43485004 SCLC G C Missense p.D1404H c.4210G>C 7 43581559 LUAD G C Missense p.E1228Q c.3682G>C 7 43546786 BRCA G C Missense p.E153Q c.457G>C 7 43360338 GBM G C Missense p.E1543Q c.4627G>C 7 43594307 BRCA G C Missense p.R202P c.605G>C 7 43436462 LUAD G C Missense p.R33P c.98G>C 7 43351432 CM G C Missense p.R496P c.1487G>C 7 43484258 ESCA G C Missense p.R871T c.2612G>C 7 43496007 LUSC G C Missense p.S270T c.809G>C 7 43477609 BRCA G C Missense p.V1267L c.3799G>C 7 43547663 STAD G C SpliceDonorSNV . c.4248+1G>C 7 43581598 LGG G C SpliceDonorSNV . c.631+1G>C 7 43436489 BLCA G - Frameshift p.E379Nfs*32 c.1135delG 7 43483903 LUSC G T Missense p.A183S c.547G>T 7 43400571 LUAD G T Missense p.A452S c.1354G>T 7 43484125 LUSC G T Missense p.A459S c.1375G>T 7 43484146 BRCA G T Missense p.D1404Y c.4210G>T 7 43581559 CM G T Missense p.E1560D c.4680G>T 7 43594360 CM G T Missense p.G1313V c.3938G>T 7 43548639 RCCC G T Missense p.G465C c.1393G>T 7 43484164 BRCA G T Missense p.G672C c.2014G>T 7 43484785 LUSC G T Missense p.Q234H c.702G>T 7 43447231 STAD G T Missense p.R934I c.2801G>T 7 43506055 LUAD G T Missense p.V260L c.778G>T 7 43447307 LUAD G T Nonsense p.E1288* c.3862G>T 7 43547726 LUSC G T Nonsense p.E436* c.1306G>T 7 43484077 CM G T Nonsense p.E489* c.1465G>T 7 43484236 GBM G T Nonsense p.E581* c.1741G>T 7 43484512 BRCA G T Nonsense p.E739* c.2215G>T 7 43484986 LUSC G T Nonsense p.G1313* c.3937G>T 7 43548638 LUAD G T Nonsense p.G434* c.1300G>T 7 43484071 RCCC G T SpliceAcceptorSNV . c.4396-1G>T 7 43591820 ESCA G T Synonymous p.G168G c.504G>T 7 43400528 HNSC G T Synonymous p.T650T c.1950G>T 7 43484721 LUAD T A Missense p.F1243Y c.3728T>A 7 43546832 LUSC T A Missense p.F1243Y c.3728T>A 7 43546832 NSCLC T A Missense p.F1284L c.3852T>A 7 43547716 LUAD T A Missense p.F1522Y c.4565T>A 7 43594245 BRCA T A Missense p.F997Y c.2990T>A 7 43508595 LUAD T A Missense p.I888N c.2663T>A 7 43503270 CM T A Missense p.L1531Q c.4592T>A 7 43594272 LUSC T A Missense p.L5Q c.14T>A 7 43283518 LUAD T A Missense p.S7R c.21T>A 7 43283525 LUSC T C IntronicSNV . c.556-10205T>C 7 43426208 CLL T C IntronicSNV . c.944+784T>C 7 43478528 HC T C Missense p.C702R c.2104T>C 7 43484875 SCLC T C Missense p.I410T c.1229T>C 7 43484000 LUAD T C Missense p.L1123P c.3368T>C 7 43532710 STAD T C Missense p.V1120A c.3359T>C 7 43532701 BLCA T C Synonymous p.G135G c.405T>C 7 43360286 CM T C Synonymous p.I892I c.2676T>C 7 43503283 RCCC T C Synonymous p.N1523N c.4569T>C 7 43594249 MM T C Synonymous p.N642N c.1926T>C 7 43484697 CM T G Missense p.L1377V c.4129T>G 7 43581478 STAD