Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 17 62543775 62543775 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 g.chr17:62543775G>C c.2014C>G c.(2014-2016)Ctt>Gtt p.L672V BLCA 17 62547765 62547765 + Missense_Mutation SNP C C G TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr17:62547765C>G c.1806G>C c.(1804-1806)caG>caC p.Q602H BLCA 17 62547774 62547774 + Missense_Mutation SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 g.chr17:62547774C>A c.1797G>T c.(1795-1797)ttG>ttT p.L599F BLCA 17 62552001 62552001 + Missense_Mutation SNP G G A TCGA-BT-A2LA-01A-11D-A18F-08 TCGA-BT-A2LA-11A-11D-A18F-08 g.chr17:62552001G>A c.1547C>T c.(1546-1548)tCa>tTa p.S516L BLCA 17 62553750 62553750 + Silent SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr17:62553750G>T c.1407C>A c.(1405-1407)atC>atA p.I469I BLCA 17 62553825 62553825 + Silent SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr17:62553825G>C c.1332C>G c.(1330-1332)ctC>ctG p.L444L BLCA 17 62568009 62568009 + Missense_Mutation SNP G G A TCGA-XF-AAN8-01A-11D-A42E-08 TCGA-XF-AAN8-10A-01D-A42H-08 g.chr17:62568009G>A c.923C>T c.(922-924)aCg>aTg p.T308M BLCA 17 62568017 62568017 + Missense_Mutation SNP G G C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 g.chr17:62568017G>C c.915C>G c.(913-915)atC>atG p.I305M BLCA 17 62589584 62589584 + Missense_Mutation SNP G G A TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr17:62589584G>A c.308C>T c.(307-309)gCc>gTc p.A103V BLCA 17 62589692 62589692 + Splice_Site SNP C C G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr17:62589692C>G c.e4-1 BRCA 17 62542418 62542418 + Missense_Mutation SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 g.chr17:62542418C>T c.2110G>A c.(2110-2112)Gat>Aat p.D704N BRCA 17 62547752 62547752 + Missense_Mutation SNP C C T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 g.chr17:62547752C>T c.1819G>A c.(1819-1821)Gaa>Aaa p.E607K BRCA 17 62551044 62551044 + Missense_Mutation SNP T T C TCGA-A7-A56D-01A-11D-A27P-09 TCGA-A7-A56D-10A-01D-A27P-09 g.chr17:62551044T>C c.1678A>G c.(1678-1680)Att>Gtt p.I560V BRCA 17 62553744 62553745 + Frame_Shift_Del DEL AG AG - TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 g.chr17:62553744_62553745delAG c.1412_1413delCT c.(1411-1413)cctfs p.P471fs BRCA 17 62558993 62558993 + Missense_Mutation SNP G G C TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 g.chr17:62558993G>C c.1108C>G c.(1108-1110)Cga>Gga p.R370G CESC 17 62542010 62542010 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr17:62542010G>C c.2203C>G c.(2203-2205)Ctg>Gtg p.L735V CESC 17 62594576 62594576 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr17:62594576C>G c.124G>C c.(124-126)Gat>Cat p.D42H COAD 17 62542028 62542029 + Frame_Shift_Ins INS - - AT TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr17:62542028_62542029insAT c.2184_2185insAT c.(2182-2187)tatgaafs p.E729fs COAD 17 62542033 62542034 + Frame_Shift_Ins INS - - T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr17:62542033_62542034insT c.2179_2180insA c.(2179-2181)agcfs p.S727fs COAD 17 62547795 62547795 + Silent SNP T T A TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr17:62547795T>A c.1776A>T c.(1774-1776)cgA>cgT p.R592R COAD 17 62547795 62547795 + Silent SNP T T C TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr17:62547795T>C c.1776A>G c.(1774-1776)cgA>cgG p.R592R COAD 17 62547795 62547795 + Silent SNP T T C TCGA-AA-3968-01A-01W-0995-10 TCGA-AA-3968-10A-01W-0995-10 g.chr17:62547795T>C c.1776A>G c.(1774-1776)cgA>cgG p.R592R COAD 17 62547795 62547795 + Silent SNP T T C TCGA-CA-5796-01A-01D-1650-10 TCGA-CA-5796-10A-01D-1650-10 g.chr17:62547795T>C c.1776A>G c.(1774-1776)cgA>cgG p.R592R COAD 17 62547795 62547795 + Silent SNP T T G TCGA-AZ-5403-01A-01D-1650-10 TCGA-AZ-5403-10A-01D-1650-10 g.chr17:62547795T>G c.1776A>C c.(1774-1776)cgA>cgC p.R592R COAD 17 62547796 62547796 + Missense_Mutation SNP C C A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr17:62547796C>A c.1775G>T c.(1774-1776)cGa>cTa p.R592L COAD 17 62558998 62558998 + Missense_Mutation SNP T T C TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr17:62558998T>C c.1103A>G c.(1102-1104)tAc>tGc p.Y368C COAD 17 62579588 62579588 + Missense_Mutation SNP C C T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr17:62579588C>T c.560G>A c.(559-561)cGc>cAc p.R187H COAD 17 62579600 62579600 + Missense_Mutation SNP G G A TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr17:62579600G>A c.548C>T c.(547-549)aCg>aTg p.T183M COAD 17 62582231 62582231 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr17:62582231C>T c.458G>A c.(457-459)cGt>cAt p.R153H COAD 17 62589631 62589631 + Silent SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr17:62589631C>T c.261G>A c.(259-261)aaG>aaA p.K87K COADREAD 17 62542028 62542029 + Frame_Shift_Ins INS - - AT TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr17:62542028_62542029insAT c.2184_2185insAT c.(2182-2187)tatgaafs p.E729fs COADREAD 17 62542033 62542034 + Frame_Shift_Ins INS - - T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr17:62542033_62542034insT c.2179_2180insA c.(2179-2181)agcfs p.S727fs COADREAD 17 62547795 62547795 + Silent SNP T T A TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr17:62547795T>A c.1776A>T c.(1774-1776)cgA>cgT p.R592R COADREAD 17 62547795 62547795 + Silent SNP T T C TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr17:62547795T>C c.1776A>G c.(1774-1776)cgA>cgG p.R592R COADREAD 17 62547795 62547795 + Silent SNP T T C TCGA-AA-3968-01A-01W-0995-10 TCGA-AA-3968-10A-01W-0995-10 g.chr17:62547795T>C c.1776A>G c.(1774-1776)cgA>cgG p.R592R COADREAD 17 62547795 62547795 + Silent SNP T T C TCGA-CA-5796-01A-01D-1650-10 TCGA-CA-5796-10A-01D-1650-10 g.chr17:62547795T>C c.1776A>G c.(1774-1776)cgA>cgG p.R592R COADREAD 17 62547795 62547795 + Silent SNP T T G TCGA-AZ-5403-01A-01D-1650-10 TCGA-AZ-5403-10A-01D-1650-10 g.chr17:62547795T>G c.1776A>C c.(1774-1776)cgA>cgC p.R592R COADREAD 17 62547796 62547796 + Missense_Mutation SNP C C A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr17:62547796C>A c.1775G>T c.(1774-1776)cGa>cTa p.R592L COADREAD 17 62558998 62558998 + Missense_Mutation SNP T T C TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr17:62558998T>C c.1103A>G c.(1102-1104)tAc>tGc p.Y368C COADREAD 17 62579588 62579588 + Missense_Mutation SNP C C T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr17:62579588C>T c.560G>A c.(559-561)cGc>cAc p.R187H COADREAD 17 62579600 62579600 + Missense_Mutation SNP G G A TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr17:62579600G>A c.548C>T c.(547-549)aCg>aTg p.T183M COADREAD 17 62582231 62582231 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr17:62582231C>T c.458G>A c.(457-459)cGt>cAt p.R153H COADREAD 17 62582271 62582271 + Missense_Mutation SNP C C T TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr17:62582271C>T c.418G>A c.(418-420)Gac>Aac p.D140N COADREAD 17 62589631 62589631 + Silent SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr17:62589631C>T c.261G>A c.(259-261)aaG>aaA p.K87K DLBC 17 62567987 62567987 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr17:62567987G>A c.945C>T c.(943-945)ttC>ttT p.F315F DLBC 17 62587204 62587204 + Missense_Mutation SNP A A G TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr17:62587204A>G c.398T>C c.(397-399)gTa>gCa p.V133A ESCA 17 62543830 62543830 + Silent SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 g.chr17:62543830G>A c.1959C>T c.(1957-1959)gtC>gtT p.V653V ESCA 17 62567980 62567980 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 g.chr17:62567980G>T c.952C>A c.(952-954)Cat>Aat p.H318N ESCA 17 62602752 62602752 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr17:62602752C>T c.59G>A c.(58-60)tGt>tAt p.C20Y GBMLGG 17 62557707 62557707 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:62557707C>A c.1227G>T c.(1225-1227)caG>caT p.Q409H GBMLGG 17 62574689 62574689 + Missense_Mutation SNP T T C TCGA-HT-7875-01A-11D-2395-08 TCGA-HT-7875-10A-01D-2396-08 g.chr17:62574689T>C c.778A>G c.(778-780)Agg>Ggg p.R260G HNSC 17 62543753 62543753 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 g.chr17:62543753G>A c.2036C>T c.(2035-2037)tCt>tTt p.S679F HNSC 17 62552006 62552006 + Silent SNP C C G TCGA-KU-A66S-01A-21D-A30E-08 TCGA-KU-A66S-10A-01D-A30H-08 g.chr17:62552006C>G c.1542G>C c.(1540-1542)ggG>ggC p.G514G HNSC 17 62559052 62559052 + Missense_Mutation SNP T T A TCGA-CV-A6JM-01A-11D-A31L-08 TCGA-CV-A6JM-10A-01D-A31J-08 g.chr17:62559052T>A c.1049A>T c.(1048-1050)cAg>cTg p.Q350L HNSC 17 62577101 62577101 + Missense_Mutation SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr17:62577101G>A c.578C>T c.(577-579)tCc>tTc p.S193F HNSC 17 62579622 62579622 + Missense_Mutation SNP G G C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 g.chr17:62579622G>C c.526C>G c.(526-528)Cta>Gta p.L176V HNSC 17 62582206 62582206 + Silent SNP G G A TCGA-KU-A66T-01A-11D-A30E-08 TCGA-KU-A66T-10A-01D-A30H-08 g.chr17:62582206G>A c.483C>T c.(481-483)gaC>gaT p.D161D HNSC 17 62582256 62582256 + Nonsense_Mutation SNP C C A TCGA-CN-A6V3-01A-12D-A34J-08 TCGA-CN-A6V3-10A-01D-A34M-08 g.chr17:62582256C>A c.433G>T c.(433-435)Gga>Tga p.G145* HNSC 17 62589665 62589665 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 g.chr17:62589665G>A c.227C>T c.(226-228)aCg>aTg p.T76M KICH 17 62579654 62579654 + Missense_Mutation SNP T T C TCGA-KL-8323-01A-21D-2310-10 TCGA-KL-8323-11A-01D-2310-10 g.chr17:62579654T>C c.494A>G c.(493-495)gAa>gGa p.E165G KIPAN 17 62542409 62542409 + Missense_Mutation SNP T T C TCGA-Y8-A8RZ-01A-11D-A36X-10 TCGA-Y8-A8RZ-10A-01D-A370-10 g.chr17:62542409T>C c.2119A>G c.(2119-2121)Act>Gct p.T707A KIPAN 17 62542419 62542419 + Silent SNP A A T TCGA-BP-4790-01A-01D-1373-10 TCGA-BP-4790-11A-01D-1373-10 g.chr17:62542419A>T c.2109T>A c.(2107-2109)atT>atA p.I703I KIPAN 17 62551963 62551963 + Missense_Mutation SNP G G C TCGA-BP-4787-01A-01D-1373-10 TCGA-BP-4787-11A-01D-1373-10 g.chr17:62551963G>C c.1585C>G c.(1585-1587)Ctt>Gtt p.L529V KIPAN 17 62576936 62576936 + Missense_Mutation SNP T T C TCGA-B0-5710-01A-11D-1669-08 TCGA-B0-5710-11A-01D-1669-08 g.chr17:62576936T>C c.743A>G c.(742-744)cAt>cGt p.H248R KIPAN 17 62579654 62579654 + Missense_Mutation SNP T T C TCGA-KL-8323-01A-21D-2310-10 TCGA-KL-8323-11A-01D-2310-10 g.chr17:62579654T>C c.494A>G c.(493-495)gAa>gGa p.E165G KIRC 17 62542419 62542419 + Silent SNP A A T TCGA-BP-4790-01A-01D-1373-10 TCGA-BP-4790-11A-01D-1373-10 g.chr17:62542419A>T c.2109T>A c.(2107-2109)atT>atA p.I703I KIRC 17 62551963 62551963 + Missense_Mutation SNP G G C TCGA-BP-4787-01A-01D-1373-10 TCGA-BP-4787-11A-01D-1373-10 g.chr17:62551963G>C c.1585C>G c.(1585-1587)Ctt>Gtt p.L529V KIRC 17 62576936 62576936 + Missense_Mutation SNP T T C TCGA-B0-5710-01A-11D-1669-08 TCGA-B0-5710-11A-01D-1669-08 g.chr17:62576936T>C c.743A>G c.(742-744)cAt>cGt p.H248R KIRP 17 62542409 62542409 + Missense_Mutation SNP T T C TCGA-Y8-A8RZ-01A-11D-A36X-10 TCGA-Y8-A8RZ-10A-01D-A370-10 g.chr17:62542409T>C c.2119A>G c.(2119-2121)Act>Gct p.T707A LAML 17 62589578 62589578 + Missense_Mutation SNP T T C TCGA-AB-2864-03D-01W-0755-09 TCGA-AB-2864-11D-01W-0755-09 g.chr17:62589578T>C c.314A>G c.(313-315)aAc>aGc p.N105S LGG 17 62557707 62557707 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:62557707C>A c.1227G>T c.(1225-1227)caG>caT p.Q409H LGG 17 62574689 62574689 + Missense_Mutation SNP T T C TCGA-HT-7875-01A-11D-2395-08 TCGA-HT-7875-10A-01D-2396-08 g.chr17:62574689T>C c.778A>G c.(778-780)Agg>Ggg p.R260G LIHC 17 62553767 62553767 + Missense_Mutation SNP T T C TCGA-DD-AACZ-01A-11D-A40R-10 TCGA-DD-AACZ-10A-01D-A40U-10 g.chr17:62553767T>C c.1390A>G c.(1390-1392)Att>Gtt p.I464V LUAD 17 62551057 62551057 + Silent SNP T T C TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr17:62551057T>C c.1665A>G c.(1663-1665)gcA>gcG p.A555A LUAD 17 62552036 62552036 + Silent SNP G G A TCGA-71-8520-01A-11D-2393-08 TCGA-71-8520-10A-01D-2393-08 g.chr17:62552036G>A c.1512C>T c.(1510-1512)ttC>ttT p.F504F LUAD 17 62553734 62553734 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr17:62553734C>A c.1423G>T c.(1423-1425)Gtt>Ttt p.V475F LUAD 17 62558992 62558992 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr17:62558992C>T c.1109G>A c.(1108-1110)cGa>cAa p.R370Q LUAD 17 62567946 62567946 + Missense_Mutation SNP C C T TCGA-86-8585-01A-11D-2393-08 TCGA-86-8585-10A-01D-2393-08 g.chr17:62567946C>T c.986G>A c.(985-987)cGg>cAg p.R329Q LUAD 17 62568061 62568061 + Missense_Mutation SNP T T C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 g.chr17:62568061T>C c.871A>G c.(871-873)Atc>Gtc p.I291V LUAD 17 62574681 62574681 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr17:62574681C>T c.786G>A c.(784-786)acG>acA p.T262T PAAD 17 62558963 62558963 + Missense_Mutation SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 g.chr17:62558963G>A c.1138C>T c.(1138-1140)Cgg>Tgg p.R380W PRAD 17 62582227 62582227 + Silent SNP T T C TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:62582227T>C c.462A>G c.(460-462)ttA>ttG p.L154L PRAD 17 62589625 62589625 + Missense_Mutation SNP T T G TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 g.chr17:62589625T>G c.267A>C c.(265-267)caA>caC p.Q89H READ 17 62582271 62582271 + Missense_Mutation SNP C C T TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr17:62582271C>T c.418G>A c.(418-420)Gac>Aac p.D140N SARC 17 62552085 62552085 + Missense_Mutation SNP C C T TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 g.chr17:62552085C>T c.1463G>A c.(1462-1464)cGa>cAa p.R488Q SKCM 17 62553739 62553739 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 g.chr17:62553739G>A c.1418C>T c.(1417-1419)tCt>tTt p.S473F SKCM 17 62553786 62553786 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 g.chr17:62553786G>A c.1371C>T c.(1369-1371)ttC>ttT p.F457F SKCM 17 62557655 62557655 + Missense_Mutation SNP G G A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr17:62557655G>A c.1279C>T c.(1279-1281)Cgt>Tgt p.R427C SKCM 17 62557655 62557655 + Missense_Mutation SNP G G A TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr17:62557655G>A c.1279C>T c.(1279-1281)Cgt>Tgt p.R427C SKCM 17 62557655 62557655 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr17:62557655G>A c.1279C>T c.(1279-1281)Cgt>Tgt p.R427C SKCM 17 62568040 62568040 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr17:62568040G>A c.892C>T c.(892-894)Cca>Tca p.P298S SKCM 17 62579628 62579628 + Nonsense_Mutation SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr17:62579628G>A c.520C>T c.(520-522)Cag>Tag p.Q174* SKCM 17 62579637 62579637 + Missense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr17:62579637C>T c.511G>A c.(511-513)Gga>Aga p.G171R SKCM 17 62594524 62594524 + Missense_Mutation SNP G G A TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr17:62594524G>A c.176C>T c.(175-177)cCa>cTa p.P59L SKCM 17 62594596 62594596 + Missense_Mutation SNP G G A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 g.chr17:62594596G>A c.104C>T c.(103-105)cCa>cTa p.P35L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 17 62533747 62533747 single base substitution G A downstream_gene_variant BLCA-US 17 62543775 62543775 single base substitution G C 3_prime_UTR_variant BLCA-US 17 62543775 62543775 single base substitution G C missense_variant L672V 2014C>G BOCA-FR 17 62552867 62552867 single base substitution G A downstream_gene_variant BOCA-FR 17 62552867 62552867 single base substitution G A intron_variant BOCA-FR 17 62648083 62648083 single base substitution C T intron_variant BOCA-FR 17 62659065 62659065 single base substitution G C upstream_gene_variant BRCA-EU 17 62534801 62534801 single base substitution G C downstream_gene_variant BRCA-EU 17 62536545 62536545 single base substitution G C downstream_gene_variant BRCA-EU 17 62537258 62537258 single base substitution C T downstream_gene_variant BRCA-EU 17 62538411 62538411 single base substitution C T downstream_gene_variant BRCA-EU 17 62539598 62539598 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 62539598 62539598 single base substitution G A downstream_gene_variant BRCA-EU 17 62540116 62540116 single base substitution G C 3_prime_UTR_variant BRCA-EU 17 62540116 62540116 single base substitution G C downstream_gene_variant BRCA-EU 17 62540820 62540820 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 62540820 62540820 single base substitution C T downstream_gene_variant BRCA-EU 17 62541198 62541199 deletion of <=200bp TA - 3_prime_UTR_variant BRCA-EU 17 62541198 62541199 deletion of <=200bp TA - downstream_gene_variant BRCA-EU 17 62541529 62541529 single base substitution C G 3_prime_UTR_variant BRCA-EU 17 62541774 62541774 insertion of <=200bp - T 3_prime_UTR_variant BRCA-EU 17 62544148 62544148 single base substitution C T intron_variant BRCA-EU 17 62545142 62545142 single base substitution C T intron_variant BRCA-EU 17 62545606 62545606 single base substitution G T intron_variant BRCA-EU 17 62546214 62546214 single base substitution C A downstream_gene_variant BRCA-EU 17 62546214 62546214 single base substitution C A intron_variant BRCA-EU 17 62546474 62546474 deletion of <=200bp T - downstream_gene_variant BRCA-EU 17 62546474 62546474 deletion of <=200bp T - intron_variant BRCA-EU 17 62547011 62547040 deletion of <=200bp ACCCAAATAAATTTCAAAATGGTAGATTAA - downstream_gene_variant BRCA-EU 17 62547011 62547040 deletion of <=200bp ACCCAAATAAATTTCAAAATGGTAGATTAA - intron_variant BRCA-EU 17 62547716 62547716 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 62547716 62547716 single base substitution C T downstream_gene_variant BRCA-EU 17 62547716 62547716 single base substitution C T missense_variant E619K 1855G>A BRCA-EU 17 62547769 62547800 deletion of <=200bp AGAGCCAAGAATTGAGCCTCAATGCCTCGTAA - 3_prime_UTR_variant BRCA-EU 17 62547769 62547800 deletion of <=200bp AGAGCCAAGAATTGAGCCTCAATGCCTCGTAA - downstream_gene_variant BRCA-EU 17 62547769 62547800 deletion of <=200bp AGAGCCAAGAATTGAGCCTCAATGCCTCGTAA - frameshift_variant LRGIEAQFLAL591 BRCA-EU 17 62548178 62548178 single base substitution C G downstream_gene_variant BRCA-EU 17 62548178 62548178 single base substitution C G intron_variant BRCA-EU 17 62548304 62548304 single base substitution G C downstream_gene_variant BRCA-EU 17 62548304 62548304 single base substitution G C intron_variant BRCA-EU 17 62549962 62549962 single base substitution C G downstream_gene_variant BRCA-EU 17 62549962 62549962 single base substitution C G intron_variant BRCA-EU 17 62550663 62550663 single base substitution C G downstream_gene_variant BRCA-EU 17 62550663 62550663 single base substitution C G intron_variant BRCA-EU 17 62551531 62551531 single base substitution C T downstream_gene_variant BRCA-EU 17 62551531 62551531 single base substitution C T intron_variant BRCA-EU 17 62551708 62551708 single base substitution T C downstream_gene_variant BRCA-EU 17 62551708 62551708 single base substitution T C intron_variant BRCA-EU 17 62552328 62552328 single base substitution G A downstream_gene_variant BRCA-EU 17 62552328 62552328 single base substitution G A intron_variant BRCA-EU 17 62554323 62554323 single base substitution G T downstream_gene_variant BRCA-EU 17 62554323 62554323 single base substitution G T intron_variant BRCA-EU 17 62555699 62555699 single base substitution G C downstream_gene_variant BRCA-EU 17 62555699 62555699 single base substitution G C intron_variant BRCA-EU 17 62556970 62556970 single base substitution G T exon_variant BRCA-EU 17 62556970 62556970 single base substitution G T intron_variant BRCA-EU 17 62558849 62558849 insertion of <=200bp - A intron_variant BRCA-EU 17 62558927 62558927 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 62558927 62558927 single base substitution G A exon_variant BRCA-EU 17 62558927 62558927 single base substitution G A intron_variant BRCA-EU 17 62558927 62558927 single base substitution G A missense_variant H379Y 1135C>T BRCA-EU 17 62558927 62558927 single base substitution G A missense_variant H392Y 1174C>T BRCA-EU 17 62560509 62560509 single base substitution G T intron_variant BRCA-EU 17 62560509 62560509 single base substitution G T upstream_gene_variant BRCA-EU 17 62561005 62561005 single base substitution G A intron_variant BRCA-EU 17 62561005 62561005 single base substitution G A upstream_gene_variant BRCA-EU 17 62561215 62561215 single base substitution G A intron_variant BRCA-EU 17 62561215 62561215 single base substitution G A upstream_gene_variant BRCA-EU 17 62562122 62562122 single base substitution G A intron_variant BRCA-EU 17 62562122 62562122 single base substitution G A upstream_gene_variant BRCA-EU 17 62562128 62562128 single base substitution C G intron_variant BRCA-EU 17 62562128 62562128 single base substitution C G upstream_gene_variant BRCA-EU 17 62562261 62562261 single base substitution C G intron_variant BRCA-EU 17 62562261 62562261 single base substitution C G upstream_gene_variant BRCA-EU 17 62562955 62562955 single base substitution T A intron_variant BRCA-EU 17 62562955 62562955 single base substitution T A upstream_gene_variant BRCA-EU 17 62564033 62564033 single base substitution G A intron_variant BRCA-EU 17 62564033 62564033 single base substitution G A upstream_gene_variant BRCA-EU 17 62564350 62564350 single base substitution C T intron_variant BRCA-EU 17 62564671 62564671 insertion of <=200bp - G intron_variant BRCA-EU 17 62565071 62565071 single base substitution G A intron_variant BRCA-EU 17 62566677 62566677 single base substitution G C intron_variant BRCA-EU 17 62566820 62566820 single base substitution C A intron_variant BRCA-EU 17 62567077 62567077 single base substitution T A intron_variant BRCA-EU 17 62567709 62567709 deletion of <=200bp T - intron_variant BRCA-EU 17 62567838 62567838 single base substitution C T intron_variant BRCA-EU 17 62568107 62568107 single base substitution C T intron_variant BRCA-EU 17 62569869 62569869 single base substitution A G intron_variant BRCA-EU 17 62570704 62570704 single base substitution G C intron_variant BRCA-EU 17 62570937 62570937 single base substitution C A intron_variant BRCA-EU 17 62571827 62571827 insertion of <=200bp - A intron_variant BRCA-EU 17 62572019 62572019 single base substitution A G intron_variant BRCA-EU 17 62572891 62572891 deletion of <=200bp T - intron_variant BRCA-EU 17 62573083 62573083 single base substitution C T intron_variant BRCA-EU 17 62573732 62573732 single base substitution G C intron_variant BRCA-EU 17 62573830 62573830 single base substitution C A intron_variant BRCA-EU 17 62574025 62574025 single base substitution T C intron_variant BRCA-EU 17 62576140 62576140 single base substitution A C intron_variant BRCA-EU 17 62576239 62576239 single base substitution C A intron_variant BRCA-EU 17 62576925 62576925 single base substitution C G 3_prime_UTR_variant BRCA-EU 17 62576925 62576925 single base substitution C G intron_variant BRCA-EU 17 62576925 62576925 single base substitution C G missense_variant D239H 715G>C BRCA-EU 17 62576925 62576925 single base substitution C G missense_variant D252H 754G>C BRCA-EU 17 62577047 62577047 single base substitution G T 3_prime_UTR_variant BRCA-EU 17 62577047 62577047 single base substitution G T intron_variant BRCA-EU 17 62577047 62577047 single base substitution G T missense_variant P198Q 593C>A BRCA-EU 17 62577047 62577047 single base substitution G T missense_variant P211Q 632C>A BRCA-EU 17 62580065 62580065 single base substitution G C intron_variant BRCA-EU 17 62580367 62580367 single base substitution C T intron_variant BRCA-EU 17 62580629 62580629 single base substitution A G intron_variant BRCA-EU 17 62581208 62581208 single base substitution G C intron_variant BRCA-EU 17 62582089 62582089 single base substitution C A intron_variant BRCA-EU 17 62583189 62583189 single base substitution G C intron_variant BRCA-EU 17 62584214 62584214 single base substitution A C downstream_gene_variant BRCA-EU 17 62584214 62584214 single base substitution A C intron_variant BRCA-EU 17 62584281 62584281 deletion of <=200bp A - downstream_gene_variant BRCA-EU 17 62584281 62584281 deletion of <=200bp A - intron_variant BRCA-EU 17 62585799 62585799 single base substitution G A downstream_gene_variant BRCA-EU 17 62585799 62585799 single base substitution G A intron_variant BRCA-EU 17 62588456 62588456 single base substitution T A downstream_gene_variant BRCA-EU 17 62588456 62588456 single base substitution T A intron_variant BRCA-EU 17 62588815 62588815 insertion of <=200bp - A downstream_gene_variant BRCA-EU 17 62588815 62588815 insertion of <=200bp - A intron_variant BRCA-EU 17 62590768 62590768 single base substitution C T intron_variant BRCA-EU 17 62591097 62591097 single base substitution A G intron_variant BRCA-EU 17 62591108 62591108 single base substitution C G intron_variant BRCA-EU 17 62591237 62591237 single base substitution C T intron_variant BRCA-EU 17 62591882 62591882 single base substitution C T intron_variant BRCA-EU 17 62592424 62592424 single base substitution C T intron_variant BRCA-EU 17 62594004 62594004 single base substitution A C intron_variant BRCA-EU 17 62594752 62594752 single base substitution A T intron_variant BRCA-EU 17 62594752 62594752 single base substitution A T upstream_gene_variant BRCA-EU 17 62595619 62595619 single base substitution C T intron_variant BRCA-EU 17 62595619 62595619 single base substitution C T upstream_gene_variant BRCA-EU 17 62595830 62595830 single base substitution A C intron_variant BRCA-EU 17 62595830 62595830 single base substitution A C upstream_gene_variant BRCA-EU 17 62596602 62596602 deletion of <=200bp T - intron_variant BRCA-EU 17 62596602 62596602 deletion of <=200bp T - upstream_gene_variant BRCA-EU 17 62597373 62597373 single base substitution C T intron_variant BRCA-EU 17 62597373 62597373 single base substitution C T upstream_gene_variant BRCA-EU 17 62598695 62598695 deletion of <=200bp G - intron_variant BRCA-EU 17 62598695 62598695 deletion of <=200bp G - upstream_gene_variant BRCA-EU 17 62598870 62598870 single base substitution C G intron_variant BRCA-EU 17 62598870 62598870 single base substitution C G upstream_gene_variant BRCA-EU 17 62598958 62598958 single base substitution G C intron_variant BRCA-EU 17 62598958 62598958 single base substitution G C upstream_gene_variant BRCA-EU 17 62599700 62599700 single base substitution G T intron_variant BRCA-EU 17 62599703 62599703 single base substitution A G intron_variant BRCA-EU 17 62599704 62599704 single base substitution A G intron_variant BRCA-EU 17 62601184 62601184 single base substitution A T intron_variant BRCA-EU 17 62602508 62602508 single base substitution G C intron_variant BRCA-EU 17 62604472 62604472 single base substitution A C intron_variant BRCA-EU 17 62604494 62604494 single base substitution G C intron_variant BRCA-EU 17 62604726 62604726 deletion of <=200bp T - intron_variant BRCA-EU 17 62604729 62604729 single base substitution T A intron_variant BRCA-EU 17 62605152 62605152 single base substitution C G intron_variant BRCA-EU 17 62605211 62605211 single base substitution T G intron_variant BRCA-EU 17 62607101 62607101 single base substitution C G intron_variant BRCA-EU 17 62608856 62608856 single base substitution C T intron_variant BRCA-EU 17 62610141 62610141 single base substitution T A intron_variant BRCA-EU 17 62610554 62610554 single base substitution A C intron_variant BRCA-EU 17 62610943 62610943 single base substitution T A intron_variant BRCA-EU 17 62611380 62611380 single base substitution G A intron_variant BRCA-EU 17 62611614 62611614 single base substitution C T intron_variant BRCA-EU 17 62611700 62611700 single base substitution G A intron_variant BRCA-EU 17 62611906 62611906 single base substitution C T intron_variant BRCA-EU 17 62612415 62612415 single base substitution C G intron_variant BRCA-EU 17 62614064 62614064 single base substitution G A intron_variant BRCA-EU 17 62616604 62616604 single base substitution C G intron_variant BRCA-EU 17 62617652 62617652 single base substitution C T intron_variant BRCA-EU 17 62621021 62621021 single base substitution G C intron_variant BRCA-EU 17 62623597 62623597 single base substitution G A intron_variant BRCA-EU 17 62623683 62623683 single base substitution G A intron_variant BRCA-EU 17 62624041 62624041 single base substitution G C intron_variant BRCA-EU 17 62626001 62626001 single base substitution C G intron_variant BRCA-EU 17 62629925 62629925 single base substitution C A intron_variant BRCA-EU 17 62630117 62630117 single base substitution C G intron_variant BRCA-EU 17 62630146 62630146 single base substitution C T intron_variant BRCA-EU 17 62630800 62630800 single base substitution T G intron_variant BRCA-EU 17 62634474 62634474 single base substitution G A intron_variant BRCA-EU 17 62634530 62634530 single base substitution G A intron_variant BRCA-EU 17 62634594 62634594 single base substitution C A intron_variant BRCA-EU 17 62634598 62634598 single base substitution C T intron_variant BRCA-EU 17 62637155 62637155 deletion of <=200bp A - intron_variant BRCA-EU 17 62637301 62637301 single base substitution A C intron_variant BRCA-EU 17 62638920 62638920 deletion of <=200bp A - intron_variant BRCA-EU 17 62639063 62639063 single base substitution C G intron_variant BRCA-EU 17 62639593 62639593 single base substitution C T intron_variant BRCA-EU 17 62639743 62639743 single base substitution T A intron_variant BRCA-EU 17 62639872 62639872 single base substitution G C intron_variant BRCA-EU 17 62639889 62639889 single base substitution C G intron_variant BRCA-EU 17 62640184 62640184 single base substitution C T intron_variant BRCA-EU 17 62640546 62640546 single base substitution T C intron_variant BRCA-EU 17 62640726 62640726 deletion of <=200bp G - intron_variant BRCA-EU 17 62640796 62640796 single base substitution G A intron_variant BRCA-EU 17 62641403 62641403 single base substitution G C intron_variant BRCA-EU 17 62641518 62641518 single base substitution G C intron_variant BRCA-EU 17 62641704 62641704 single base substitution G C intron_variant BRCA-EU 17 62642115 62642115 deletion of <=200bp A - intron_variant BRCA-EU 17 62643292 62643292 single base substitution G A intron_variant BRCA-EU 17 62643393 62643393 single base substitution G A intron_variant BRCA-EU 17 62643580 62643580 single base substitution G A intron_variant BRCA-EU 17 62643940 62643940 single base substitution G A intron_variant BRCA-EU 17 62644273 62644273 deletion of <=200bp A - intron_variant BRCA-EU 17 62644273 62644273 insertion of <=200bp - A intron_variant BRCA-EU 17 62644809 62644809 single base substitution G C intron_variant BRCA-EU 17 62645401 62645401 single base substitution C G intron_variant BRCA-EU 17 62645758 62645758 single base substitution G A intron_variant BRCA-EU 17 62645901 62645901 single base substitution G A intron_variant BRCA-EU 17 62645902 62645902 single base substitution C G intron_variant BRCA-EU 17 62645911 62645911 single base substitution G A intron_variant BRCA-EU 17 62645913 62645913 single base substitution G A intron_variant BRCA-EU 17 62646195 62646195 single base substitution C T intron_variant BRCA-EU 17 62646472 62646472 single base substitution T G intron_variant BRCA-EU 17 62648725 62648725 single base substitution C G intron_variant BRCA-EU 17 62648789 62648789 single base substitution A C intron_variant BRCA-EU 17 62648991 62648991 deletion of <=200bp A - intron_variant BRCA-EU 17 62649122 62649122 single base substitution G C intron_variant BRCA-EU 17 62650318 62650318 single base substitution C T intron_variant BRCA-EU 17 62650802 62650802 single base substitution C T intron_variant BRCA-EU 17 62651647 62651647 single base substitution G T intron_variant BRCA-EU 17 62652546 62652546 single base substitution C G intron_variant BRCA-EU 17 62652555 62652555 single base substitution G A intron_variant BRCA-EU 17 62653339 62653339 single base substitution G C intron_variant BRCA-EU 17 62653690 62653690 single base substitution G T intron_variant BRCA-EU 17 62654554 62654554 single base substitution G A intron_variant BRCA-EU 17 62654728 62654728 single base substitution G C intron_variant BRCA-EU 17 62654767 62654767 single base substitution C G intron_variant BRCA-EU 17 62655364 62655364 single base substitution C A intron_variant BRCA-EU 17 62656456 62656456 single base substitution A G intron_variant BRCA-EU 17 62656518 62656518 deletion of <=200bp G - intron_variant BRCA-EU 17 62658962 62658962 single base substitution C G upstream_gene_variant BRCA-EU 17 62659372 62659372 single base substitution C A upstream_gene_variant BRCA-EU 17 62659829 62659829 single base substitution T A upstream_gene_variant BRCA-EU 17 62659830 62659830 single base substitution C A upstream_gene_variant BRCA-EU 17 62659831 62659831 single base substitution A G upstream_gene_variant BRCA-EU 17 62659966 62659966 single base substitution C T upstream_gene_variant BRCA-EU 17 62660095 62660095 deletion of <=200bp A - upstream_gene_variant BRCA-EU 17 62661086 62661086 deletion of <=200bp T - upstream_gene_variant BRCA-EU 17 62661313 62661313 single base substitution G T upstream_gene_variant BRCA-EU 17 62661485 62661485 single base substitution G C upstream_gene_variant BRCA-EU 17 62661751 62661751 single base substitution C T upstream_gene_variant BRCA-EU 17 62662731 62662731 single base substitution G C upstream_gene_variant BRCA-FR 17 62534801 62534801 single base substitution G C downstream_gene_variant BRCA-FR 17 62536545 62536545 single base substitution G C downstream_gene_variant BRCA-FR 17 62536771 62536771 single base substitution T G downstream_gene_variant BRCA-FR 17 62544917 62544917 single base substitution C A intron_variant BRCA-FR 17 62548304 62548304 single base substitution G C downstream_gene_variant BRCA-FR 17 62548304 62548304 single base substitution G C intron_variant BRCA-FR 17 62551422 62551422 single base substitution A G downstream_gene_variant BRCA-FR 17 62551422 62551422 single base substitution A G intron_variant BRCA-FR 17 62551708 62551708 single base substitution T C downstream_gene_variant BRCA-FR 17 62551708 62551708 single base substitution T C intron_variant BRCA-FR 17 62555340 62555340 single base substitution A G downstream_gene_variant BRCA-FR 17 62555340 62555340 single base substitution A G intron_variant BRCA-FR 17 62555699 62555699 single base substitution G C downstream_gene_variant BRCA-FR 17 62555699 62555699 single base substitution G C intron_variant BRCA-FR 17 62561005 62561005 single base substitution G A intron_variant BRCA-FR 17 62561005 62561005 single base substitution G A upstream_gene_variant BRCA-FR 17 62564328 62564328 single base substitution G A intron_variant BRCA-FR 17 62573083 62573083 single base substitution C T intron_variant BRCA-FR 17 62573830 62573830 single base substitution C A intron_variant BRCA-FR 17 62597373 62597373 single base substitution C T intron_variant BRCA-FR 17 62597373 62597373 single base substitution C T upstream_gene_variant BRCA-FR 17 62598958 62598958 single base substitution G C intron_variant BRCA-FR 17 62598958 62598958 single base substitution G C upstream_gene_variant BRCA-FR 17 62607463 62607463 single base substitution C G intron_variant BRCA-FR 17 62612283 62612283 single base substitution T C intron_variant BRCA-FR 17 62615197 62615197 single base substitution G C intron_variant BRCA-FR 17 62622714 62622714 single base substitution C G intron_variant BRCA-FR 17 62624041 62624041 single base substitution G C intron_variant BRCA-FR 17 62639593 62639593 single base substitution C T intron_variant BRCA-FR 17 62639671 62639671 single base substitution C T intron_variant BRCA-FR 17 62639889 62639889 single base substitution C G intron_variant BRCA-FR 17 62645401 62645401 single base substitution C G intron_variant BRCA-FR 17 62648359 62648359 single base substitution G C intron_variant BRCA-FR 17 62649122 62649122 single base substitution G C intron_variant BRCA-FR 17 62658943 62658943 single base substitution C T upstream_gene_variant BRCA-UK 17 62538315 62538315 single base substitution G C downstream_gene_variant BRCA-UK 17 62540475 62540475 single base substitution G A 3_prime_UTR_variant BRCA-UK 17 62540475 62540475 single base substitution G A downstream_gene_variant BRCA-UK 17 62543828 62543828 single base substitution T A 3_prime_UTR_variant BRCA-UK 17 62543828 62543828 single base substitution T A missense_variant K654I 1961A>T BRCA-UK 17 62547769 62547800 deletion of <=200bp AGAGCCAAGAATTGAGCCTCAATGCCTCGTAA - 3_prime_UTR_variant BRCA-UK 17 62547769 62547800 deletion of <=200bp AGAGCCAAGAATTGAGCCTCAATGCCTCGTAA - downstream_gene_variant BRCA-UK 17 62547769 62547800 deletion of <=200bp AGAGCCAAGAATTGAGCCTCAATGCCTCGTAA - frameshift_variant LRGIEAQFLAL591 BRCA-UK 17 62585536 62585536 single base substitution C T downstream_gene_variant BRCA-UK 17 62585536 62585536 single base substitution C T intron_variant BRCA-UK 17 62604472 62604472 single base substitution A C intron_variant BRCA-UK 17 62605152 62605152 single base substitution C G intron_variant BRCA-UK 17 62606147 62606147 single base substitution G C intron_variant BRCA-UK 17 62607101 62607101 single base substitution C G intron_variant BRCA-UK 17 62610943 62610943 single base substitution T A intron_variant BRCA-UK 17 62627865 62627865 single base substitution G A intron_variant BRCA-UK 17 62640546 62640546 single base substitution T C intron_variant BRCA-UK 17 62645901 62645901 single base substitution G A intron_variant BRCA-UK 17 62645902 62645902 single base substitution C G intron_variant BRCA-UK 17 62648630 62648630 single base substitution G C intron_variant BRCA-US 17 62533802 62533802 single base substitution G A downstream_gene_variant BRCA-US 17 62533819 62533819 single base substitution C T downstream_gene_variant BRCA-US 17 62542418 62542418 single base substitution C T 3_prime_UTR_variant BRCA-US 17 62542418 62542418 single base substitution C T missense_variant D704N 2110G>A BRCA-US 17 62547752 62547752 single base substitution C T 3_prime_UTR_variant BRCA-US 17 62547752 62547752 single base substitution C T downstream_gene_variant BRCA-US 17 62547752 62547752 single base substitution C T missense_variant E607K 1819G>A BRCA-US 17 62551044 62551044 single base substitution T C 3_prime_UTR_variant BRCA-US 17 62551044 62551044 single base substitution T C downstream_gene_variant BRCA-US 17 62551044 62551044 single base substitution T C missense_variant I547V 1639A>G BRCA-US 17 62551044 62551044 single base substitution T C missense_variant I560V 1678A>G BRCA-US 17 62553744 62553745 deletion of <=200bp AG - 3_prime_UTR_variant BRCA-US 17 62553744 62553745 deletion of <=200bp AG - downstream_gene_variant BRCA-US 17 62553744 62553745 deletion of <=200bp AG - frameshift_variant P458 BRCA-US 17 62553744 62553745 deletion of <=200bp AG - frameshift_variant P471 BRCA-US 17 62558993 62558993 single base substitution G C 3_prime_UTR_variant BRCA-US 17 62558993 62558993 single base substitution G C exon_variant BRCA-US 17 62558993 62558993 single base substitution G C intron_variant BRCA-US 17 62558993 62558993 single base substitution G C missense_variant R357G 1069C>G BRCA-US 17 62558993 62558993 single base substitution G C missense_variant R370G 1108C>G BTCA-JP 17 62541851 62541851 single base substitution A G 3_prime_UTR_variant BTCA-JP 17 62543830 62543830 single base substitution G A 3_prime_UTR_variant BTCA-JP 17 62543830 62543830 single base substitution G A synonymous_variant V653V 1959C>T BTCA-JP 17 62579588 62579588 single base substitution C T 3_prime_UTR_variant BTCA-JP 17 62579588 62579588 single base substitution C T intron_variant BTCA-JP 17 62579588 62579588 single base substitution C T missense_variant R174H 521G>A BTCA-JP 17 62579588 62579588 single base substitution C T missense_variant R187H 560G>A BTCA-JP 17 62602763 62602763 deletion of <=200bp A - intron_variant BTCA-JP 17 62602763 62602763 deletion of <=200bp A - splice_region_variant CESC-US 17 62542010 62542010 single base substitution G C 3_prime_UTR_variant CESC-US 17 62542010 62542010 single base substitution G C missense_variant L735V 2203C>G CESC-US 17 62594576 62594576 single base substitution C G exon_variant CESC-US 17 62594576 62594576 single base substitution C G intron_variant CESC-US 17 62594576 62594576 single base substitution C G missense_variant D29H 85G>C CESC-US 17 62594576 62594576 single base substitution C G missense_variant D42H 124G>C CESC-US 17 62594576 62594576 single base substitution C G upstream_gene_variant CLLE-ES 17 62535085 62535085 single base substitution G C downstream_gene_variant CLLE-ES 17 62547127 62547127 single base substitution T C downstream_gene_variant CLLE-ES 17 62547127 62547127 single base substitution T C intron_variant CLLE-ES 17 62552052 62552052 single base substitution T C 3_prime_UTR_variant CLLE-ES 17 62552052 62552052 single base substitution T C downstream_gene_variant CLLE-ES 17 62552052 62552052 single base substitution T C missense_variant Y486C 1457A>G CLLE-ES 17 62552052 62552052 single base substitution T C missense_variant Y499C 1496A>G CLLE-ES 17 62554797 62554797 single base substitution C T downstream_gene_variant CLLE-ES 17 62554797 62554797 single base substitution C T intron_variant CLLE-ES 17 62582938 62582938 single base substitution T A intron_variant CLLE-ES 17 62583587 62583587 single base substitution T G intron_variant CLLE-ES 17 62583606 62583606 single base substitution T A intron_variant CLLE-ES 17 62583619 62583619 single base substitution T G intron_variant CLLE-ES 17 62583670 62583670 single base substitution T A intron_variant CLLE-ES 17 62585672 62585672 single base substitution T G downstream_gene_variant CLLE-ES 17 62585672 62585672 single base substitution T G intron_variant CLLE-ES 17 62586235 62586235 single base substitution G A downstream_gene_variant CLLE-ES 17 62586235 62586235 single base substitution G A intron_variant COAD-US 17 62533814 62533816 deletion of <=200bp TTC - downstream_gene_variant COAD-US 17 62542028 62542028 insertion of <=200bp - AT 3_prime_UTR_variant COAD-US 17 62542028 62542028 insertion of <=200bp - AT frameshift_variant E729D? COAD-US 17 62542033 62542033 insertion of <=200bp - T 3_prime_UTR_variant COAD-US 17 62542033 62542033 insertion of <=200bp - T frameshift_variant S727R? COAD-US 17 62582231 62582231 single base substitution C T 3_prime_UTR_variant COAD-US 17 62582231 62582231 single base substitution C T intron_variant COAD-US 17 62582231 62582231 single base substitution C T missense_variant R140H 419G>A COAD-US 17 62582231 62582231 single base substitution C T missense_variant R153H 458G>A COAD-US 17 62589631 62589631 single base substitution C T 3_prime_UTR_variant COAD-US 17 62589631 62589631 single base substitution C T exon_variant COAD-US 17 62589631 62589631 single base substitution C T intron_variant COAD-US 17 62589631 62589631 single base substitution C T synonymous_variant K74K 222G>A COAD-US 17 62589631 62589631 single base substitution C T synonymous_variant K87K 261G>A COAD-US 17 62589658 62589658 single base substitution A G 3_prime_UTR_variant COAD-US 17 62589658 62589658 single base substitution A G exon_variant COAD-US 17 62589658 62589658 single base substitution A G intron_variant COAD-US 17 62589658 62589658 single base substitution A G synonymous_variant S65S 195T>C COAD-US 17 62589658 62589658 single base substitution A G synonymous_variant S78S 234T>C COCA-CN 17 62541852 62541852 single base substitution G A 3_prime_UTR_variant COCA-CN 17 62542452 62542452 single base substitution A G 3_prime_UTR_variant COCA-CN 17 62542452 62542452 single base substitution A G synonymous_variant A692A 2076T>C COCA-CN 17 62547927 62547927 single base substitution A G downstream_gene_variant COCA-CN 17 62547927 62547927 single base substitution A G intron_variant COCA-CN 17 62557626 62557626 single base substitution G A 3_prime_UTR_variant COCA-CN 17 62557626 62557626 single base substitution G A exon_variant COCA-CN 17 62557626 62557626 single base substitution G A synonymous_variant G423G 1269C>T COCA-CN 17 62557626 62557626 single base substitution G A synonymous_variant G436G 1308C>T COCA-CN 17 62557661 62557661 single base substitution T G 3_prime_UTR_variant COCA-CN 17 62557661 62557661 single base substitution T G exon_variant COCA-CN 17 62557661 62557661 single base substitution T G missense_variant K412Q 1234A>C COCA-CN 17 62557661 62557661 single base substitution T G missense_variant K425Q 1273A>C COCA-CN 17 62558842 62558842 single base substitution T C intron_variant COCA-CN 17 62558920 62558920 single base substitution C T 3_prime_UTR_variant COCA-CN 17 62558920 62558920 single base substitution C T exon_variant COCA-CN 17 62558920 62558920 single base substitution C T intron_variant COCA-CN 17 62558920 62558920 single base substitution C T missense_variant R381H 1142G>A COCA-CN 17 62558920 62558920 single base substitution C T missense_variant R394H 1181G>A COCA-CN 17 62558957 62558957 single base substitution C A 3_prime_UTR_variant COCA-CN 17 62558957 62558957 single base substitution C A exon_variant COCA-CN 17 62558957 62558957 single base substitution C A intron_variant COCA-CN 17 62558957 62558957 single base substitution C A stop_gained E369* 1105G>T COCA-CN 17 62558957 62558957 single base substitution C A stop_gained E382* 1144G>T COCA-CN 17 62579633 62579633 single base substitution C A 3_prime_UTR_variant COCA-CN 17 62579633 62579633 single base substitution C A intron_variant COCA-CN 17 62579633 62579633 single base substitution C A missense_variant R159I 476G>T COCA-CN 17 62579633 62579633 single base substitution C A missense_variant R172I 515G>T COCA-CN 17 62582009 62582009 single base substitution T G intron_variant COCA-CN 17 62582144 62582144 single base substitution C A intron_variant COCA-CN 17 62589505 62589505 insertion of <=200bp - AC exon_variant COCA-CN 17 62589505 62589505 insertion of <=200bp - AC intron_variant COCA-CN 17 62602678 62602678 single base substitution G T intron_variant EOPC-DE 17 62601445 62601445 single base substitution T C intron_variant ESAD-UK 17 62534012 62534012 single base substitution A G downstream_gene_variant ESAD-UK 17 62541464 62541464 single base substitution T C 3_prime_UTR_variant ESAD-UK 17 62541464 62541464 single base substitution T C downstream_gene_variant ESAD-UK 17 62545259 62545259 single base substitution C T intron_variant ESAD-UK 17 62547488 62547488 single base substitution G A downstream_gene_variant ESAD-UK 17 62547488 62547488 single base substitution G A intron_variant ESAD-UK 17 62547834 62547834 single base substitution C T downstream_gene_variant ESAD-UK 17 62547834 62547834 single base substitution C T intron_variant ESAD-UK 17 62549831 62549831 single base substitution C T downstream_gene_variant ESAD-UK 17 62549831 62549831 single base substitution C T intron_variant ESAD-UK 17 62549929 62549929 single base substitution T C downstream_gene_variant ESAD-UK 17 62549929 62549929 single base substitution T C intron_variant ESAD-UK 17 62553061 62553061 single base substitution G A downstream_gene_variant ESAD-UK 17 62553061 62553061 single base substitution G A intron_variant ESAD-UK 17 62553365 62553365 single base substitution G A downstream_gene_variant ESAD-UK 17 62553365 62553365 single base substitution G A intron_variant ESAD-UK 17 62555870 62555873 deletion of <=200bp AATT - downstream_gene_variant ESAD-UK 17 62555870 62555873 deletion of <=200bp AATT - intron_variant ESAD-UK 17 62555871 62555872 deletion of <=200bp AT - downstream_gene_variant ESAD-UK 17 62555871 62555872 deletion of <=200bp AT - intron_variant ESAD-UK 17 62556692 62556692 single base substitution G A downstream_gene_variant ESAD-UK 17 62556692 62556692 single base substitution G A intron_variant ESAD-UK 17 62558997 62558997 single base substitution G A 3_prime_UTR_variant ESAD-UK 17 62558997 62558997 single base substitution G A exon_variant ESAD-UK 17 62558997 62558997 single base substitution G A intron_variant ESAD-UK 17 62558997 62558997 single base substitution G A synonymous_variant Y355Y 1065C>T ESAD-UK 17 62558997 62558997 single base substitution G A synonymous_variant Y368Y 1104C>T ESAD-UK 17 62560068 62560068 single base substitution T A intron_variant ESAD-UK 17 62560068 62560068 single base substitution T A upstream_gene_variant ESAD-UK 17 62560553 62560553 single base substitution A C intron_variant ESAD-UK 17 62560553 62560553 single base substitution A C upstream_gene_variant ESAD-UK 17 62563709 62563709 single base substitution G C intron_variant ESAD-UK 17 62563709 62563709 single base substitution G C upstream_gene_variant ESAD-UK 17 62564122 62564122 single base substitution C A intron_variant ESAD-UK 17 62564122 62564122 single base substitution C A upstream_gene_variant ESAD-UK 17 62565305 62565305 single base substitution C A intron_variant ESAD-UK 17 62566139 62566139 single base substitution T A intron_variant ESAD-UK 17 62571880 62571880 single base substitution C T intron_variant ESAD-UK 17 62573460 62573460 single base substitution G A intron_variant ESAD-UK 17 62574682 62574682 single base substitution G A 3_prime_UTR_variant ESAD-UK 17 62574682 62574682 single base substitution G A intron_variant ESAD-UK 17 62574682 62574682 single base substitution G A missense_variant T249M 746C>T ESAD-UK 17 62574682 62574682 single base substitution G A missense_variant T262M 785C>T ESAD-UK 17 62577323 62577323 single base substitution T C intron_variant ESAD-UK 17 62579084 62579084 single base substitution T C intron_variant ESAD-UK 17 62579296 62579296 single base substitution G T intron_variant ESAD-UK 17 62582267 62582267 single base substitution C T 3_prime_UTR_variant ESAD-UK 17 62582267 62582267 single base substitution C T intron_variant ESAD-UK 17 62582267 62582267 single base substitution C T missense_variant R128Q 383G>A ESAD-UK 17 62582267 62582267 single base substitution C T missense_variant R141Q 422G>A ESAD-UK 17 62584281 62584281 deletion of <=200bp A - downstream_gene_variant ESAD-UK 17 62584281 62584281 deletion of <=200bp A - intron_variant ESAD-UK 17 62585020 62585020 single base substitution C T downstream_gene_variant ESAD-UK 17 62585020 62585020 single base substitution C T intron_variant ESAD-UK 17 62585151 62585151 single base substitution G C downstream_gene_variant ESAD-UK 17 62585151 62585151 single base substitution G C intron_variant ESAD-UK 17 62586537 62586537 single base substitution A C downstream_gene_variant ESAD-UK 17 62586537 62586537 single base substitution A C intron_variant ESAD-UK 17 62591174 62591174 single base substitution G A intron_variant ESAD-UK 17 62591406 62591406 single base substitution A G intron_variant ESAD-UK 17 62593828 62593828 single base substitution T C intron_variant ESAD-UK 17 62594013 62594013 single base substitution G A intron_variant ESAD-UK 17 62595854 62595854 single base substitution C G intron_variant ESAD-UK 17 62595854 62595854 single base substitution C G upstream_gene_variant ESAD-UK 17 62596642 62596642 single base substitution A T intron_variant ESAD-UK 17 62596642 62596642 single base substitution A T upstream_gene_variant ESAD-UK 17 62596985 62596985 single base substitution T G intron_variant ESAD-UK 17 62596985 62596985 single base substitution T G upstream_gene_variant ESAD-UK 17 62597934 62597934 single base substitution C T intron_variant ESAD-UK 17 62597934 62597934 single base substitution C T upstream_gene_variant ESAD-UK 17 62597954 62597954 insertion of <=200bp - GT intron_variant ESAD-UK 17 62597954 62597954 insertion of <=200bp - GT upstream_gene_variant ESAD-UK 17 62597972 62597972 single base substitution A G intron_variant ESAD-UK 17 62597972 62597972 single base substitution A G upstream_gene_variant ESAD-UK 17 62599236 62599236 single base substitution A G intron_variant ESAD-UK 17 62599236 62599236 single base substitution A G upstream_gene_variant ESAD-UK 17 62599694 62599694 single base substitution G A intron_variant ESAD-UK 17 62600576 62600576 single base substitution T A intron_variant ESAD-UK 17 62603193 62603193 single base substitution T C intron_variant ESAD-UK 17 62604136 62604136 insertion of <=200bp - TAAATAAG intron_variant ESAD-UK 17 62605303 62605303 single base substitution G A intron_variant ESAD-UK 17 62605763 62605763 single base substitution C T intron_variant ESAD-UK 17 62605891 62605891 single base substitution G T intron_variant ESAD-UK 17 62611528 62611528 single base substitution A C intron_variant ESAD-UK 17 62615230 62615230 single base substitution T C intron_variant ESAD-UK 17 62619943 62619943 single base substitution A C intron_variant ESAD-UK 17 62620900 62620900 single base substitution T C intron_variant ESAD-UK 17 62622573 62622573 deletion of <=200bp A - intron_variant ESAD-UK 17 62624669 62624669 single base substitution A C intron_variant ESAD-UK 17 62624987 62624987 single base substitution C G intron_variant ESAD-UK 17 62629849 62629849 single base substitution A T intron_variant ESAD-UK 17 62630879 62630879 single base substitution G A intron_variant ESAD-UK 17 62632267 62632267 deletion of <=200bp T - intron_variant ESAD-UK 17 62632902 62632902 single base substitution A C intron_variant ESAD-UK 17 62637906 62637906 single base substitution A T intron_variant ESAD-UK 17 62638213 62638213 single base substitution T A intron_variant ESAD-UK 17 62638740 62638740 single base substitution A C intron_variant ESAD-UK 17 62640957 62640957 single base substitution A T intron_variant ESAD-UK 17 62642518 62642518 deletion of <=200bp T - intron_variant ESAD-UK 17 62643541 62643541 single base substitution G A intron_variant ESAD-UK 17 62646806 62646806 single base substitution G A intron_variant ESAD-UK 17 62652064 62652064 insertion of <=200bp - A intron_variant ESAD-UK 17 62654589 62654589 deletion of <=200bp C - intron_variant ESAD-UK 17 62655064 62655064 single base substitution G A intron_variant ESAD-UK 17 62655356 62655356 single base substitution G A intron_variant ESAD-UK 17 62656824 62656824 single base substitution A G intron_variant ESAD-UK 17 62657194 62657194 insertion of <=200bp - C intron_variant ESAD-UK 17 62657194 62657194 insertion of <=200bp - C upstream_gene_variant ESAD-UK 17 62657201 62657201 single base substitution C A intron_variant ESAD-UK 17 62657201 62657201 single base substitution C A upstream_gene_variant ESAD-UK 17 62657444 62657444 single base substitution T A intron_variant ESAD-UK 17 62657444 62657444 single base substitution T A upstream_gene_variant ESAD-UK 17 62660062 62660062 single base substitution G A upstream_gene_variant ESAD-UK 17 62660252 62660252 single base substitution A C upstream_gene_variant ESAD-UK 17 62662074 62662074 single base substitution G A upstream_gene_variant ESCA-CN 17 62541859 62541859 single base substitution G A 3_prime_UTR_variant ESCA-CN 17 62551057 62551057 single base substitution T C 3_prime_UTR_variant ESCA-CN 17 62551057 62551057 single base substitution T C downstream_gene_variant ESCA-CN 17 62551057 62551057 single base substitution T C synonymous_variant A542A 1626A>G ESCA-CN 17 62551057 62551057 single base substitution T C synonymous_variant A555A 1665A>G KIRC-US 17 62542419 62542419 single base substitution A T 3_prime_UTR_variant KIRC-US 17 62542419 62542419 single base substitution A T synonymous_variant I703I 2109T>A KIRC-US 17 62551963 62551963 single base substitution G C 3_prime_UTR_variant KIRC-US 17 62551963 62551963 single base substitution G C downstream_gene_variant KIRC-US 17 62551963 62551963 single base substitution G C missense_variant L516V 1546C>G KIRC-US 17 62551963 62551963 single base substitution G C missense_variant L529V 1585C>G KIRC-US 17 62574659 62574659 single base substitution A T 3_prime_UTR_variant KIRC-US 17 62574659 62574659 single base substitution A T intron_variant KIRC-US 17 62574659 62574659 single base substitution A T missense_variant L257I 769T>A KIRC-US 17 62574659 62574659 single base substitution A T missense_variant L270I 808T>A KIRC-US 17 62576936 62576936 single base substitution T C 3_prime_UTR_variant KIRC-US 17 62576936 62576936 single base substitution T C intron_variant KIRC-US 17 62576936 62576936 single base substitution T C missense_variant H235R 704A>G KIRC-US 17 62576936 62576936 single base substitution T C missense_variant H248R 743A>G LAML-KR 17 62558442 62558442 single base substitution G A intron_variant LAML-KR 17 62647069 62647069 single base substitution T C intron_variant LGG-US 17 62574689 62574689 single base substitution T C 3_prime_UTR_variant LGG-US 17 62574689 62574689 single base substitution T C intron_variant LGG-US 17 62574689 62574689 single base substitution T C missense_variant R247G 739A>G LGG-US 17 62574689 62574689 single base substitution T C missense_variant R260G 778A>G LICA-FR 17 62538414 62538414 single base substitution T G 3_prime_UTR_variant LICA-FR 17 62538414 62538414 single base substitution T G downstream_gene_variant LICA-FR 17 62545406 62545406 single base substitution G A intron_variant LICA-FR 17 62547973 62547973 single base substitution G A downstream_gene_variant LICA-FR 17 62547973 62547973 single base substitution G A intron_variant LICA-FR 17 62550444 62550444 single base substitution T C downstream_gene_variant LICA-FR 17 62550444 62550444 single base substitution T C intron_variant LICA-FR 17 62557112 62557112 single base substitution G A intron_variant LICA-FR 17 62564930 62564930 single base substitution G C intron_variant LICA-FR 17 62568965 62568965 single base substitution T A intron_variant LICA-FR 17 62573999 62573999 single base substitution C T intron_variant LICA-FR 17 62574043 62574043 single base substitution C A intron_variant LICA-FR 17 62574827 62574827 single base substitution A G intron_variant LICA-FR 17 62598073 62598076 deletion of <=200bp ACAC - intron_variant LICA-FR 17 62598073 62598076 deletion of <=200bp ACAC - upstream_gene_variant LICA-FR 17 62609181 62609181 single base substitution T C intron_variant LICA-FR 17 62623230 62623231 deletion of <=200bp TT - intron_variant LICA-FR 17 62637309 62637309 single base substitution A G intron_variant LICA-FR 17 62646323 62646323 insertion of <=200bp - T intron_variant LINC-JP 17 62533613 62533613 deletion of <=200bp A - downstream_gene_variant LINC-JP 17 62533620 62533620 single base substitution A C downstream_gene_variant LINC-JP 17 62533623 62533623 single base substitution T G downstream_gene_variant LINC-JP 17 62533690 62533690 single base substitution A T downstream_gene_variant LINC-JP 17 62540283 62540283 single base substitution T G 3_prime_UTR_variant LINC-JP 17 62540283 62540283 single base substitution T G downstream_gene_variant LINC-JP 17 62541865 62541865 deletion of <=200bp A - 3_prime_UTR_variant LINC-JP 17 62542086 62542086 deletion of <=200bp T - intron_variant LINC-JP 17 62553794 62553794 single base substitution C T 3_prime_UTR_variant LINC-JP 17 62553794 62553794 single base substitution C T downstream_gene_variant LINC-JP 17 62553794 62553794 single base substitution C T exon_variant LINC-JP 17 62553794 62553794 single base substitution C T missense_variant G442S 1324G>A LINC-JP 17 62553794 62553794 single base substitution C T missense_variant G455S 1363G>A LINC-JP 17 62559984 62559984 single base substitution C T intron_variant LINC-JP 17 62559984 62559984 single base substitution C T upstream_gene_variant LINC-JP 17 62561731 62561731 deletion of <=200bp A - intron_variant LINC-JP 17 62561731 62561731 deletion of <=200bp A - upstream_gene_variant LINC-JP 17 62566198 62566198 single base substitution C T intron_variant LINC-JP 17 62566590 62566590 single base substitution C A intron_variant LINC-JP 17 62567076 62567076 single base substitution A T intron_variant LINC-JP 17 62574485 62574485 single base substitution A G intron_variant LINC-JP 17 62579624 62579624 single base substitution T C 3_prime_UTR_variant LINC-JP 17 62579624 62579624 single base substitution T C intron_variant LINC-JP 17 62579624 62579624 single base substitution T C missense_variant Y162C 485A>G LINC-JP 17 62579624 62579624 single base substitution T C missense_variant Y175C 524A>G LINC-JP 17 62590830 62590830 single base substitution C T intron_variant LINC-JP 17 62591402 62591402 single base substitution G A intron_variant LINC-JP 17 62598039 62598039 single base substitution G A intron_variant LINC-JP 17 62598039 62598039 single base substitution G A upstream_gene_variant LINC-JP 17 62601183 62601183 deletion of <=200bp A - intron_variant LINC-JP 17 62610699 62610699 single base substitution C T intron_variant LINC-JP 17 62611550 62611550 single base substitution C A intron_variant LINC-JP 17 62619855 62619855 single base substitution A C intron_variant LINC-JP 17 62627334 62627334 single base substitution G A intron_variant LINC-JP 17 62631644 62631644 single base substitution C T intron_variant LINC-JP 17 62645653 62645653 single base substitution T C intron_variant LINC-JP 17 62647029 62647029 deletion of <=200bp A - intron_variant LINC-JP 17 62662559 62662559 single base substitution G T upstream_gene_variant LIRI-JP 17 62533689 62533689 single base substitution G A downstream_gene_variant LIRI-JP 17 62534855 62534855 single base substitution A G downstream_gene_variant LIRI-JP 17 62535164 62535164 single base substitution G A downstream_gene_variant LIRI-JP 17 62536639 62536639 single base substitution T C downstream_gene_variant LIRI-JP 17 62537858 62537858 single base substitution T A downstream_gene_variant LIRI-JP 17 62539034 62539034 single base substitution A G 3_prime_UTR_variant LIRI-JP 17 62539034 62539034 single base substitution A G downstream_gene_variant LIRI-JP 17 62539205 62539205 single base substitution G A 3_prime_UTR_variant LIRI-JP 17 62539205 62539205 single base substitution G A downstream_gene_variant LIRI-JP 17 62540213 62540213 single base substitution C T 3_prime_UTR_variant LIRI-JP 17 62540213 62540213 single base substitution C T downstream_gene_variant LIRI-JP 17 62540447 62540447 single base substitution A C 3_prime_UTR_variant LIRI-JP 17 62540447 62540447 single base substitution A C downstream_gene_variant LIRI-JP 17 62540471 62540471 single base substitution A G 3_prime_UTR_variant LIRI-JP 17 62540471 62540471 single base substitution A G downstream_gene_variant LIRI-JP 17 62540924 62540924 deletion of <=200bp A - 3_prime_UTR_variant LIRI-JP 17 62540924 62540924 deletion of <=200bp A - downstream_gene_variant LIRI-JP 17 62543008 62543008 single base substitution G A intron_variant LIRI-JP 17 62544909 62544909 single base substitution A C intron_variant LIRI-JP 17 62547092 62547092 single base substitution T A downstream_gene_variant LIRI-JP 17 62547092 62547092 single base substitution T A intron_variant LIRI-JP 17 62548714 62548714 single base substitution A G downstream_gene_variant LIRI-JP 17 62548714 62548714 single base substitution A G intron_variant LIRI-JP 17 62551911 62551911 single base substitution T C downstream_gene_variant LIRI-JP 17 62551911 62551911 single base substitution T C intron_variant LIRI-JP 17 62553274 62553274 single base substitution T C downstream_gene_variant LIRI-JP 17 62553274 62553274 single base substitution T C intron_variant LIRI-JP 17 62553275 62553275 single base substitution G T downstream_gene_variant LIRI-JP 17 62553275 62553275 single base substitution G T intron_variant LIRI-JP 17 62555099 62555099 single base substitution T C downstream_gene_variant LIRI-JP 17 62555099 62555099 single base substitution T C intron_variant LIRI-JP 17 62555208 62555208 single base substitution A G downstream_gene_variant LIRI-JP 17 62555208 62555208 single base substitution A G intron_variant LIRI-JP 17 62555614 62555614 single base substitution G C downstream_gene_variant LIRI-JP 17 62555614 62555614 single base substitution G C intron_variant LIRI-JP 17 62555662 62555662 single base substitution G C downstream_gene_variant LIRI-JP 17 62555662 62555662 single base substitution G C intron_variant LIRI-JP 17 62557884 62557884 single base substitution G A intron_variant LIRI-JP 17 62558607 62558607 single base substitution C G intron_variant LIRI-JP 17 62559269 62559269 single base substitution A G exon_variant LIRI-JP 17 62559269 62559269 single base substitution A G intron_variant LIRI-JP 17 62560461 62560461 single base substitution T C intron_variant LIRI-JP 17 62560461 62560461 single base substitution T C upstream_gene_variant LIRI-JP 17 62562176 62562176 single base substitution C G intron_variant LIRI-JP 17 62562176 62562176 single base substitution C G upstream_gene_variant LIRI-JP 17 62564117 62564117 single base substitution G A intron_variant LIRI-JP 17 62564117 62564117 single base substitution G A upstream_gene_variant LIRI-JP 17 62564675 62564675 single base substitution T C intron_variant LIRI-JP 17 62567652 62567652 single base substitution T C intron_variant LIRI-JP 17 62569091 62569091 insertion of <=200bp - A intron_variant LIRI-JP 17 62569969 62569969 single base substitution A T intron_variant LIRI-JP 17 62575149 62575149 single base substitution A G intron_variant LIRI-JP 17 62575535 62575535 single base substitution T C intron_variant LIRI-JP 17 62577732 62577732 single base substitution G A intron_variant LIRI-JP 17 62581660 62581660 single base substitution T C intron_variant LIRI-JP 17 62582339 62582339 single base substitution T C intron_variant LIRI-JP 17 62583470 62583470 single base substitution G C intron_variant LIRI-JP 17 62585018 62585018 single base substitution G A downstream_gene_variant LIRI-JP 17 62585018 62585018 single base substitution G A intron_variant LIRI-JP 17 62586042 62586042 single base substitution A C downstream_gene_variant LIRI-JP 17 62586042 62586042 single base substitution A C intron_variant LIRI-JP 17 62586235 62586235 single base substitution G A downstream_gene_variant LIRI-JP 17 62586235 62586235 single base substitution G A intron_variant LIRI-JP 17 62586791 62586791 single base substitution T C downstream_gene_variant LIRI-JP 17 62586791 62586791 single base substitution T C intron_variant LIRI-JP 17 62588282 62588282 deletion of <=200bp C - downstream_gene_variant LIRI-JP 17 62588282 62588282 deletion of <=200bp C - intron_variant LIRI-JP 17 62589621 62589621 single base substitution C G 3_prime_UTR_variant LIRI-JP 17 62589621 62589621 single base substitution C G exon_variant LIRI-JP 17 62589621 62589621 single base substitution C G intron_variant LIRI-JP 17 62589621 62589621 single base substitution C G missense_variant A78P 232G>C LIRI-JP 17 62589621 62589621 single base substitution C G missense_variant A91P 271G>C LIRI-JP 17 62589789 62589789 single base substitution G A intron_variant LIRI-JP 17 62590250 62590250 single base substitution G A intron_variant LIRI-JP 17 62591388 62591388 single base substitution T A intron_variant LIRI-JP 17 62596278 62596278 single base substitution G C intron_variant LIRI-JP 17 62596278 62596278 single base substitution G C upstream_gene_variant LIRI-JP 17 62604392 62604395 deletion of <=200bp TAAC - intron_variant LIRI-JP 17 62604649 62604649 single base substitution A C intron_variant LIRI-JP 17 62608980 62608980 single base substitution T C intron_variant LIRI-JP 17 62609350 62609350 single base substitution G A intron_variant LIRI-JP 17 62612504 62612504 single base substitution T G intron_variant LIRI-JP 17 62613700 62613700 single base substitution G C intron_variant LIRI-JP 17 62617707 62617707 single base substitution T C intron_variant LIRI-JP 17 62618169 62618169 single base substitution C A intron_variant LIRI-JP 17 62625401 62625401 single base substitution T C intron_variant LIRI-JP 17 62625559 62625559 single base substitution C T intron_variant LIRI-JP 17 62625970 62625970 single base substitution A C intron_variant LIRI-JP 17 62626937 62626937 single base substitution A C intron_variant LIRI-JP 17 62631994 62631994 single base substitution T C intron_variant LIRI-JP 17 62633024 62633024 single base substitution G A intron_variant LIRI-JP 17 62636773 62636773 single base substitution T C intron_variant LIRI-JP 17 62638542 62638542 single base substitution C T intron_variant LIRI-JP 17 62638591 62638591 single base substitution A G intron_variant LIRI-JP 17 62642909 62642909 single base substitution T C intron_variant LIRI-JP 17 62643941 62643941 single base substitution A T intron_variant LIRI-JP 17 62645212 62645212 single base substitution T C intron_variant LIRI-JP 17 62645706 62645706 single base substitution T A intron_variant LIRI-JP 17 62647370 62647370 single base substitution T C intron_variant LIRI-JP 17 62648185 62648185 single base substitution A C intron_variant LIRI-JP 17 62648514 62648514 single base substitution T C intron_variant LIRI-JP 17 62648645 62648645 single base substitution G A intron_variant LIRI-JP 17 62648919 62648919 single base substitution G A intron_variant LIRI-JP 17 62650851 62650851 single base substitution G C intron_variant LIRI-JP 17 62654106 62654106 single base substitution C A intron_variant LIRI-JP 17 62654107 62654107 single base substitution T A intron_variant LIRI-JP 17 62654250 62654250 single base substitution A C intron_variant LIRI-JP 17 62655177 62655177 single base substitution T C intron_variant LIRI-JP 17 62655777 62655777 single base substitution T C intron_variant LIRI-JP 17 62656595 62656595 single base substitution C T intron_variant LIRI-JP 17 62656859 62656859 single base substitution A G intron_variant LIRI-JP 17 62657238 62657238 single base substitution A C intron_variant LIRI-JP 17 62657238 62657238 single base substitution A C upstream_gene_variant LIRI-JP 17 62661415 62661415 single base substitution A G upstream_gene_variant LIRI-JP 17 62663053 62663053 single base substitution A G upstream_gene_variant LUSC-KR 17 62540789 62540789 single base substitution G A 3_prime_UTR_variant LUSC-KR 17 62540789 62540789 single base substitution G A downstream_gene_variant LUSC-KR 17 62540932 62540932 single base substitution G C 3_prime_UTR_variant LUSC-KR 17 62540932 62540932 single base substitution G C downstream_gene_variant LUSC-KR 17 62549080 62549080 single base substitution C T downstream_gene_variant LUSC-KR 17 62549080 62549080 single base substitution C T intron_variant LUSC-KR 17 62554772 62554772 single base substitution C A downstream_gene_variant LUSC-KR 17 62554772 62554772 single base substitution C A intron_variant LUSC-KR 17 62555646 62555646 single base substitution G T downstream_gene_variant LUSC-KR 17 62555646 62555646 single base substitution G T intron_variant LUSC-KR 17 62555872 62555872 single base substitution T A downstream_gene_variant LUSC-KR 17 62555872 62555872 single base substitution T A intron_variant LUSC-KR 17 62558734 62558734 single base substitution G A intron_variant LUSC-KR 17 62566438 62566438 single base substitution T C intron_variant LUSC-KR 17 62568829 62568829 single base substitution G A intron_variant LUSC-KR 17 62578334 62578334 single base substitution A G intron_variant LUSC-KR 17 62578677 62578677 single base substitution G A intron_variant LUSC-KR 17 62580220 62580220 single base substitution G A intron_variant LUSC-KR 17 62582113 62582113 single base substitution C T intron_variant LUSC-KR 17 62582960 62582960 single base substitution G C intron_variant LUSC-KR 17 62586192 62586192 single base substitution T C downstream_gene_variant LUSC-KR 17 62586192 62586192 single base substitution T C intron_variant LUSC-KR 17 62590926 62590926 single base substitution G A intron_variant LUSC-KR 17 62599026 62599026 single base substitution G A intron_variant LUSC-KR 17 62599026 62599026 single base substitution G A upstream_gene_variant LUSC-KR 17 62600669 62600669 single base substitution G A intron_variant LUSC-KR 17 62601222 62601222 single base substitution T G intron_variant LUSC-KR 17 62611001 62611001 single base substitution T C intron_variant LUSC-KR 17 62612789 62612789 single base substitution G C intron_variant LUSC-KR 17 62620438 62620438 single base substitution A G intron_variant LUSC-KR 17 62625829 62625829 single base substitution G C intron_variant LUSC-KR 17 62627399 62627399 single base substitution G A intron_variant LUSC-KR 17 62628184 62628184 single base substitution C T intron_variant LUSC-KR 17 62634232 62634232 single base substitution G A intron_variant LUSC-KR 17 62634997 62634997 single base substitution G T intron_variant LUSC-KR 17 62640435 62640435 single base substitution C T intron_variant LUSC-KR 17 62642540 62642540 single base substitution C G intron_variant LUSC-KR 17 62647847 62647847 single base substitution C A intron_variant LUSC-US 17 62533868 62533868 single base substitution T G downstream_gene_variant MALY-DE 17 62538526 62538526 single base substitution T A 3_prime_UTR_variant MALY-DE 17 62538526 62538526 single base substitution T A downstream_gene_variant MALY-DE 17 62541668 62541668 single base substitution A G 3_prime_UTR_variant MALY-DE 17 62544853 62544853 single base substitution G A intron_variant MALY-DE 17 62561283 62561283 single base substitution C A intron_variant MALY-DE 17 62561283 62561283 single base substitution C A upstream_gene_variant MALY-DE 17 62569727 62569727 single base substitution T A intron_variant MALY-DE 17 62575555 62575555 single base substitution T C intron_variant MALY-DE 17 62582057 62582057 single base substitution T C intron_variant MALY-DE 17 62592157 62592157 deletion of <=200bp T - intron_variant MALY-DE 17 62596748 62596748 single base substitution T A intron_variant MALY-DE 17 62596748 62596748 single base substitution T A upstream_gene_variant MALY-DE 17 62599166 62599166 single base substitution A T intron_variant MALY-DE 17 62599166 62599166 single base substitution A T upstream_gene_variant MALY-DE 17 62599716 62599716 single base substitution A G intron_variant MALY-DE 17 62601376 62601376 single base substitution G A intron_variant MALY-DE 17 62613042 62613042 insertion of <=200bp - A intron_variant MALY-DE 17 62618071 62618071 insertion of <=200bp - AAT intron_variant MALY-DE 17 62618071 62618073 deletion of <=200bp AAT - intron_variant MALY-DE 17 62623171 62623171 single base substitution T C intron_variant MALY-DE 17 62632442 62632442 single base substitution C T intron_variant MALY-DE 17 62642319 62642319 single base substitution G A intron_variant MALY-DE 17 62642430 62642430 single base substitution C T intron_variant MALY-DE 17 62646472 62646472 single base substitution T G intron_variant MALY-DE 17 62651700 62651713 deletion of <=200bp TAACAAGTTTAATA - intron_variant MALY-DE 17 62654184 62654184 single base substitution C A intron_variant MALY-DE 17 62656385 62656385 single base substitution T C intron_variant MELA-AU 17 62533828 62533828 single base substitution G A downstream_gene_variant MELA-AU 17 62534159 62534159 single base substitution G A downstream_gene_variant MELA-AU 17 62534290 62534290 single base substitution G A downstream_gene_variant MELA-AU 17 62534295 62534295 single base substitution C T downstream_gene_variant MELA-AU 17 62536598 62536598 single base substitution G A downstream_gene_variant MELA-AU 17 62536877 62536877 single base substitution G A downstream_gene_variant MELA-AU 17 62537898 62537898 single base substitution C T downstream_gene_variant MELA-AU 17 62538129 62538129 single base substitution G A downstream_gene_variant MELA-AU 17 62538839 62538839 single base substitution C T 3_prime_UTR_variant MELA-AU 17 62538839 62538839 single base substitution C T downstream_gene_variant MELA-AU 17 62542809 62542809 single base substitution G A intron_variant MELA-AU 17 62542988 62542988 single base substitution G A intron_variant MELA-AU 17 62543290 62543290 single base substitution G A intron_variant MELA-AU 17 62544151 62544151 single base substitution C T intron_variant MELA-AU 17 62544185 62544185 single base substitution G A intron_variant MELA-AU 17 62544530 62544530 single base substitution G A intron_variant MELA-AU 17 62544776 62544776 single base substitution G A intron_variant MELA-AU 17 62544955 62544955 single base substitution G A intron_variant MELA-AU 17 62545146 62545146 single base substitution A G intron_variant MELA-AU 17 62545536 62545536 single base substitution A G intron_variant MELA-AU 17 62545891 62545891 single base substitution G A intron_variant MELA-AU 17 62546079 62546079 single base substitution G A downstream_gene_variant MELA-AU 17 62546079 62546079 single base substitution G A intron_variant MELA-AU 17 62546493 62546493 single base substitution G A downstream_gene_variant MELA-AU 17 62546493 62546493 single base substitution G A intron_variant MELA-AU 17 62547167 62547167 single base substitution A T downstream_gene_variant MELA-AU 17 62547167 62547167 single base substitution A T intron_variant MELA-AU 17 62547254 62547254 single base substitution G A downstream_gene_variant MELA-AU 17 62547254 62547254 single base substitution G A intron_variant MELA-AU 17 62547302 62547302 single base substitution A G downstream_gene_variant MELA-AU 17 62547302 62547302 single base substitution A G intron_variant MELA-AU 17 62547662 62547662 single base substitution C T downstream_gene_variant MELA-AU 17 62547662 62547662 single base substitution C T intron_variant MELA-AU 17 62547840 62547840 single base substitution G A downstream_gene_variant MELA-AU 17 62547840 62547840 single base substitution G A intron_variant MELA-AU 17 62547877 62547877 single base substitution T C downstream_gene_variant MELA-AU 17 62547877 62547877 single base substitution T C intron_variant MELA-AU 17 62548128 62548128 single base substitution C T downstream_gene_variant MELA-AU 17 62548128 62548128 single base substitution C T intron_variant MELA-AU 17 62548383 62548383 single base substitution G A downstream_gene_variant MELA-AU 17 62548383 62548383 single base substitution G A intron_variant MELA-AU 17 62548699 62548699 single base substitution T C downstream_gene_variant MELA-AU 17 62548699 62548699 single base substitution T C intron_variant MELA-AU 17 62548852 62548852 single base substitution C T downstream_gene_variant MELA-AU 17 62548852 62548852 single base substitution C T intron_variant MELA-AU 17 62549226 62549226 single base substitution C T downstream_gene_variant MELA-AU 17 62549226 62549226 single base substitution C T intron_variant MELA-AU 17 62549324 62549324 single base substitution A G downstream_gene_variant MELA-AU 17 62549324 62549324 single base substitution A G intron_variant MELA-AU 17 62549667 62549668 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 62549667 62549668 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 62549688 62549688 single base substitution C T downstream_gene_variant MELA-AU 17 62549688 62549688 single base substitution C T intron_variant MELA-AU 17 62550310 62550310 single base substitution G A downstream_gene_variant MELA-AU 17 62550310 62550310 single base substitution G A intron_variant MELA-AU 17 62550358 62550359 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 62550358 62550359 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 62551009 62551009 single base substitution G A 3_prime_UTR_variant MELA-AU 17 62551009 62551009 single base substitution G A downstream_gene_variant MELA-AU 17 62551009 62551009 single base substitution G A synonymous_variant I558I 1674C>T MELA-AU 17 62551009 62551009 single base substitution G A synonymous_variant I571I 1713C>T MELA-AU 17 62551083 62551083 single base substitution G A 3_prime_UTR_variant MELA-AU 17 62551083 62551083 single base substitution G A downstream_gene_variant MELA-AU 17 62551083 62551083 single base substitution G A missense_variant H534Y 1600C>T MELA-AU 17 62551083 62551083 single base substitution G A missense_variant H547Y 1639C>T MELA-AU 17 62552186 62552186 single base substitution T C downstream_gene_variant MELA-AU 17 62552186 62552186 single base substitution T C intron_variant MELA-AU 17 62552572 62552572 single base substitution C A downstream_gene_variant MELA-AU 17 62552572 62552572 single base substitution C A intron_variant MELA-AU 17 62552893 62552893 single base substitution A C downstream_gene_variant MELA-AU 17 62552893 62552893 single base substitution A C intron_variant MELA-AU 17 62554201 62554201 single base substitution G A downstream_gene_variant MELA-AU 17 62554201 62554201 single base substitution G A intron_variant MELA-AU 17 62554339 62554339 single base substitution G A downstream_gene_variant MELA-AU 17 62554339 62554339 single base substitution G A intron_variant MELA-AU 17 62554492 62554493 multiple base substitution (>=2bp and <=200bp) GG AC downstream_gene_variant MELA-AU 17 62554492 62554493 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 17 62555256 62555256 single base substitution A G downstream_gene_variant MELA-AU 17 62555256 62555256 single base substitution A G intron_variant MELA-AU 17 62555474 62555474 single base substitution G A downstream_gene_variant MELA-AU 17 62555474 62555474 single base substitution G A intron_variant MELA-AU 17 62555530 62555530 single base substitution G A downstream_gene_variant MELA-AU 17 62555530 62555530 single base substitution G A intron_variant MELA-AU 17 62555606 62555606 single base substitution G T downstream_gene_variant MELA-AU 17 62555606 62555606 single base substitution G T intron_variant MELA-AU 17 62555747 62555747 single base substitution G A downstream_gene_variant MELA-AU 17 62555747 62555747 single base substitution G A intron_variant MELA-AU 17 62556241 62556241 single base substitution G A downstream_gene_variant MELA-AU 17 62556241 62556241 single base substitution G A intron_variant MELA-AU 17 62556664 62556664 single base substitution G A downstream_gene_variant MELA-AU 17 62556664 62556664 single base substitution G A intron_variant MELA-AU 17 62556838 62556838 single base substitution G A downstream_gene_variant MELA-AU 17 62556838 62556838 single base substitution G A intron_variant MELA-AU 17 62557071 62557071 single base substitution G A exon_variant MELA-AU 17 62557071 62557071 single base substitution G A intron_variant MELA-AU 17 62557276 62557276 single base substitution G A intron_variant MELA-AU 17 62557655 62557655 single base substitution G A 3_prime_UTR_variant MELA-AU 17 62557655 62557655 single base substitution G A exon_variant MELA-AU 17 62557655 62557655 single base substitution G A missense_variant R414C 1240C>T MELA-AU 17 62557655 62557655 single base substitution G A missense_variant R427C 1279C>T MELA-AU 17 62558731 62558731 single base substitution G A intron_variant MELA-AU 17 62558743 62558743 single base substitution A G intron_variant MELA-AU 17 62559919 62559919 single base substitution G A intron_variant MELA-AU 17 62559919 62559919 single base substitution G A upstream_gene_variant MELA-AU 17 62560005 62560005 single base substitution A C intron_variant MELA-AU 17 62560005 62560005 single base substitution A C upstream_gene_variant MELA-AU 17 62560801 62560801 single base substitution G A intron_variant MELA-AU 17 62560801 62560801 single base substitution G A upstream_gene_variant MELA-AU 17 62561066 62561066 single base substitution G A intron_variant MELA-AU 17 62561066 62561066 single base substitution G A upstream_gene_variant MELA-AU 17 62561071 62561071 single base substitution C T intron_variant MELA-AU 17 62561071 62561071 single base substitution C T upstream_gene_variant MELA-AU 17 62561082 62561083 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 62561082 62561083 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 62561227 62561227 single base substitution C T intron_variant MELA-AU 17 62561227 62561227 single base substitution C T upstream_gene_variant MELA-AU 17 62562720 62562720 single base substitution C T intron_variant MELA-AU 17 62562720 62562720 single base substitution C T upstream_gene_variant MELA-AU 17 62562879 62562879 single base substitution G A intron_variant MELA-AU 17 62562879 62562879 single base substitution G A upstream_gene_variant MELA-AU 17 62564254 62564254 single base substitution G A intron_variant MELA-AU 17 62564254 62564254 single base substitution G A upstream_gene_variant MELA-AU 17 62564377 62564377 single base substitution G A intron_variant MELA-AU 17 62564482 62564482 single base substitution G A intron_variant MELA-AU 17 62564983 62564983 single base substitution G A intron_variant MELA-AU 17 62566199 62566199 single base substitution G A intron_variant MELA-AU 17 62566226 62566226 single base substitution C T intron_variant MELA-AU 17 62566312 62566312 single base substitution G A intron_variant MELA-AU 17 62566670 62566670 single base substitution A C intron_variant MELA-AU 17 62566884 62566884 single base substitution G A intron_variant MELA-AU 17 62568546 62568546 single base substitution G A intron_variant MELA-AU 17 62568801 62568802 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 62569669 62569669 single base substitution G A intron_variant MELA-AU 17 62569699 62569699 single base substitution G A intron_variant MELA-AU 17 62570090 62570106 deletion of <=200bp TATCAGAGGGTGGAAGG - intron_variant MELA-AU 17 62570138 62570138 single base substitution G A intron_variant MELA-AU 17 62570236 62570236 single base substitution G A intron_variant MELA-AU 17 62570605 62570605 single base substitution A G intron_variant MELA-AU 17 62570652 62570652 single base substitution G A intron_variant MELA-AU 17 62572481 62572481 single base substitution G A intron_variant MELA-AU 17 62573113 62573113 single base substitution G A intron_variant MELA-AU 17 62573123 62573123 single base substitution G A intron_variant MELA-AU 17 62573193 62573193 single base substitution G A intron_variant MELA-AU 17 62573354 62573354 single base substitution G A intron_variant MELA-AU 17 62573392 62573392 single base substitution A T intron_variant MELA-AU 17 62573777 62573777 single base substitution G A intron_variant MELA-AU 17 62573849 62573849 single base substitution G A intron_variant MELA-AU 17 62574268 62574268 single base substitution T C intron_variant MELA-AU 17 62574380 62574380 single base substitution G T intron_variant MELA-AU 17 62574830 62574830 single base substitution G A intron_variant MELA-AU 17 62575083 62575084 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 62575241 62575241 single base substitution G A intron_variant MELA-AU 17 62575379 62575379 single base substitution G A intron_variant MELA-AU 17 62575905 62575905 single base substitution A T intron_variant MELA-AU 17 62576336 62576336 single base substitution G A intron_variant MELA-AU 17 62576362 62576362 single base substitution G A intron_variant MELA-AU 17 62577002 62577003 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 17 62577002 62577003 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 62577002 62577003 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P213F 637CC>TT MELA-AU 17 62577002 62577003 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P226F 676CC>TT MELA-AU 17 62577185 62577185 single base substitution A G intron_variant MELA-AU 17 62577197 62577197 single base substitution A C intron_variant MELA-AU 17 62577683 62577683 single base substitution G A intron_variant MELA-AU 17 62577684 62577684 single base substitution G A intron_variant MELA-AU 17 62577945 62577945 single base substitution C T intron_variant MELA-AU 17 62578725 62578725 single base substitution T A intron_variant MELA-AU 17 62578826 62578826 single base substitution C T intron_variant MELA-AU 17 62579524 62579524 single base substitution G A intron_variant MELA-AU 17 62581115 62581115 single base substitution C T intron_variant MELA-AU 17 62581374 62581374 single base substitution G A intron_variant MELA-AU 17 62582777 62582777 single base substitution G A intron_variant MELA-AU 17 62582798 62582798 single base substitution G A intron_variant MELA-AU 17 62582856 62582856 single base substitution G A intron_variant MELA-AU 17 62583189 62583189 single base substitution G T intron_variant MELA-AU 17 62583195 62583195 single base substitution G A intron_variant MELA-AU 17 62583310 62583310 single base substitution A T intron_variant MELA-AU 17 62583566 62583566 single base substitution C T intron_variant MELA-AU 17 62583763 62583763 single base substitution T C intron_variant MELA-AU 17 62584448 62584448 single base substitution G A downstream_gene_variant MELA-AU 17 62584448 62584448 single base substitution G A intron_variant MELA-AU 17 62584892 62584892 single base substitution C T downstream_gene_variant MELA-AU 17 62584892 62584892 single base substitution C T intron_variant MELA-AU 17 62585743 62585743 single base substitution G A downstream_gene_variant MELA-AU 17 62585743 62585743 single base substitution G A intron_variant MELA-AU 17 62586284 62586284 single base substitution G A downstream_gene_variant MELA-AU 17 62586284 62586284 single base substitution G A intron_variant MELA-AU 17 62586531 62586531 single base substitution G A downstream_gene_variant MELA-AU 17 62586531 62586531 single base substitution G A intron_variant MELA-AU 17 62586873 62586873 single base substitution T C downstream_gene_variant MELA-AU 17 62586873 62586873 single base substitution T C intron_variant MELA-AU 17 62587036 62587036 single base substitution A T downstream_gene_variant MELA-AU 17 62587036 62587036 single base substitution A T intron_variant MELA-AU 17 62588459 62588459 single base substitution A C downstream_gene_variant MELA-AU 17 62588459 62588459 single base substitution A C intron_variant MELA-AU 17 62588554 62588554 single base substitution A G downstream_gene_variant MELA-AU 17 62588554 62588554 single base substitution A G intron_variant MELA-AU 17 62589505 62589505 single base substitution A G exon_variant MELA-AU 17 62589505 62589505 single base substitution A G intron_variant MELA-AU 17 62590318 62590318 single base substitution G A intron_variant MELA-AU 17 62590420 62590420 single base substitution T C intron_variant MELA-AU 17 62590453 62590453 single base substitution G A intron_variant MELA-AU 17 62590971 62590971 single base substitution G T intron_variant MELA-AU 17 62591011 62591011 single base substitution G A intron_variant MELA-AU 17 62591262 62591262 deletion of <=200bp T - intron_variant MELA-AU 17 62591266 62591266 single base substitution T C intron_variant MELA-AU 17 62591345 62591345 single base substitution G A intron_variant MELA-AU 17 62591663 62591663 single base substitution G A intron_variant MELA-AU 17 62592613 62592613 single base substitution C T intron_variant MELA-AU 17 62593390 62593390 single base substitution G A intron_variant MELA-AU 17 62593585 62593585 single base substitution G A intron_variant MELA-AU 17 62593817 62593817 single base substitution G A intron_variant MELA-AU 17 62594021 62594021 single base substitution G A intron_variant MELA-AU 17 62595067 62595067 single base substitution G A intron_variant MELA-AU 17 62595067 62595067 single base substitution G A upstream_gene_variant MELA-AU 17 62595526 62595526 single base substitution G A intron_variant MELA-AU 17 62595526 62595526 single base substitution G A upstream_gene_variant MELA-AU 17 62595530 62595530 single base substitution A T intron_variant MELA-AU 17 62595530 62595530 single base substitution A T upstream_gene_variant MELA-AU 17 62595702 62595702 single base substitution G A intron_variant MELA-AU 17 62595702 62595702 single base substitution G A upstream_gene_variant MELA-AU 17 62595720 62595720 single base substitution G A intron_variant MELA-AU 17 62595720 62595720 single base substitution G A upstream_gene_variant MELA-AU 17 62596890 62596890 single base substitution G A intron_variant MELA-AU 17 62596890 62596890 single base substitution G A upstream_gene_variant MELA-AU 17 62597080 62597080 single base substitution G A intron_variant MELA-AU 17 62597080 62597080 single base substitution G A upstream_gene_variant MELA-AU 17 62597377 62597377 single base substitution G A intron_variant MELA-AU 17 62597377 62597377 single base substitution G A upstream_gene_variant MELA-AU 17 62598013 62598013 single base substitution A T intron_variant MELA-AU 17 62598013 62598013 single base substitution A T upstream_gene_variant MELA-AU 17 62598211 62598211 single base substitution C T intron_variant MELA-AU 17 62598211 62598211 single base substitution C T upstream_gene_variant MELA-AU 17 62598904 62598904 single base substitution G A intron_variant MELA-AU 17 62598904 62598904 single base substitution G A upstream_gene_variant MELA-AU 17 62599699 62599699 single base substitution G A intron_variant MELA-AU 17 62599700 62599700 single base substitution G A intron_variant MELA-AU 17 62599705 62599705 single base substitution A T intron_variant MELA-AU 17 62599927 62599927 single base substitution G A intron_variant MELA-AU 17 62601058 62601058 single base substitution T A intron_variant MELA-AU 17 62601266 62601266 single base substitution G A intron_variant MELA-AU 17 62601641 62601641 single base substitution G A intron_variant MELA-AU 17 62601654 62601654 single base substitution A C intron_variant MELA-AU 17 62602353 62602353 single base substitution A T intron_variant MELA-AU 17 62602742 62602742 single base substitution G T exon_variant MELA-AU 17 62602742 62602742 single base substitution G T intron_variant MELA-AU 17 62602742 62602742 single base substitution G T missense_variant N23K 69C>A MELA-AU 17 62603064 62603064 single base substitution G A intron_variant MELA-AU 17 62603472 62603472 single base substitution G A intron_variant MELA-AU 17 62604115 62604115 insertion of <=200bp - ATAA intron_variant MELA-AU 17 62604149 62604149 single base substitution A C intron_variant MELA-AU 17 62604150 62604150 insertion of <=200bp - AATC intron_variant MELA-AU 17 62604159 62604159 single base substitution A G intron_variant MELA-AU 17 62604160 62604160 insertion of <=200bp - TAAG intron_variant MELA-AU 17 62604160 62604160 single base substitution T A intron_variant MELA-AU 17 62604161 62604161 insertion of <=200bp - AAATAAAA intron_variant MELA-AU 17 62604794 62604794 single base substitution G A intron_variant MELA-AU 17 62605165 62605165 single base substitution A T intron_variant MELA-AU 17 62605418 62605418 single base substitution G A intron_variant MELA-AU 17 62605639 62605639 single base substitution G A intron_variant MELA-AU 17 62605893 62605893 single base substitution G A intron_variant MELA-AU 17 62606366 62606366 single base substitution C T intron_variant MELA-AU 17 62606389 62606389 single base substitution G A intron_variant MELA-AU 17 62606745 62606746 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 17 62607355 62607355 single base substitution G A intron_variant MELA-AU 17 62608163 62608163 single base substitution G A intron_variant MELA-AU 17 62610384 62610384 single base substitution A T intron_variant MELA-AU 17 62610409 62610409 deletion of <=200bp T - intron_variant MELA-AU 17 62610549 62610549 single base substitution G A intron_variant MELA-AU 17 62610639 62610639 single base substitution A G intron_variant MELA-AU 17 62611311 62611311 single base substitution A T intron_variant MELA-AU 17 62612450 62612450 single base substitution G A intron_variant MELA-AU 17 62612505 62612505 single base substitution C T intron_variant MELA-AU 17 62612700 62612700 single base substitution G A intron_variant MELA-AU 17 62612959 62612959 single base substitution G A intron_variant MELA-AU 17 62613091 62613091 single base substitution C T intron_variant MELA-AU 17 62613172 62613172 single base substitution G A intron_variant MELA-AU 17 62614498 62614498 single base substitution G A intron_variant MELA-AU 17 62614811 62614812 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 62614826 62614826 single base substitution G A intron_variant MELA-AU 17 62615286 62615286 single base substitution G A intron_variant MELA-AU 17 62615585 62615585 single base substitution G A intron_variant MELA-AU 17 62615602 62615602 single base substitution A G intron_variant MELA-AU 17 62615942 62615942 single base substitution G A intron_variant MELA-AU 17 62616135 62616135 single base substitution G A intron_variant MELA-AU 17 62617146 62617146 single base substitution G A intron_variant MELA-AU 17 62617249 62617249 single base substitution T C intron_variant MELA-AU 17 62617590 62617590 single base substitution C A intron_variant MELA-AU 17 62617647 62617647 single base substitution G T intron_variant MELA-AU 17 62618065 62618065 single base substitution C A intron_variant MELA-AU 17 62618106 62618106 single base substitution A T intron_variant MELA-AU 17 62618360 62618360 single base substitution T C intron_variant MELA-AU 17 62618649 62618649 single base substitution G A intron_variant MELA-AU 17 62619169 62619169 single base substitution C T intron_variant MELA-AU 17 62619293 62619293 single base substitution G A intron_variant MELA-AU 17 62619301 62619301 single base substitution C A intron_variant MELA-AU 17 62620710 62620710 single base substitution C T intron_variant MELA-AU 17 62620959 62620959 single base substitution G A intron_variant MELA-AU 17 62620963 62620963 single base substitution G A intron_variant MELA-AU 17 62620977 62620977 single base substitution G A intron_variant MELA-AU 17 62621328 62621329 multiple base substitution (>=2bp and <=200bp) CA AG intron_variant MELA-AU 17 62622572 62622572 single base substitution G A intron_variant MELA-AU 17 62622656 62622656 single base substitution G A intron_variant MELA-AU 17 62623336 62623336 single base substitution G A intron_variant MELA-AU 17 62623604 62623604 single base substitution G A intron_variant MELA-AU 17 62623969 62623969 single base substitution G A intron_variant MELA-AU 17 62624002 62624002 single base substitution G A intron_variant MELA-AU 17 62624044 62624044 single base substitution T C intron_variant MELA-AU 17 62624226 62624226 single base substitution G T intron_variant MELA-AU 17 62625648 62625648 deletion of <=200bp T - intron_variant MELA-AU 17 62626118 62626118 single base substitution G A intron_variant MELA-AU 17 62626405 62626405 single base substitution G C intron_variant MELA-AU 17 62626748 62626748 single base substitution G A intron_variant MELA-AU 17 62627793 62627793 single base substitution G A intron_variant MELA-AU 17 62627927 62627927 single base substitution G A intron_variant MELA-AU 17 62628782 62628782 deletion of <=200bp A - intron_variant MELA-AU 17 62629040 62629040 single base substitution G A intron_variant MELA-AU 17 62629071 62629071 single base substitution G A intron_variant MELA-AU 17 62629072 62629072 single base substitution G A intron_variant MELA-AU 17 62630098 62630098 single base substitution A G intron_variant MELA-AU 17 62630167 62630167 single base substitution G A intron_variant MELA-AU 17 62630350 62630350 single base substitution A C intron_variant MELA-AU 17 62630419 62630419 single base substitution G A intron_variant MELA-AU 17 62631147 62631147 single base substitution G A intron_variant MELA-AU 17 62631956 62631957 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 62632954 62632954 single base substitution A G intron_variant MELA-AU 17 62633106 62633107 multiple base substitution (>=2bp and <=200bp) GA CC intron_variant MELA-AU 17 62633368 62633368 single base substitution C T intron_variant MELA-AU 17 62634493 62634493 single base substitution A C intron_variant MELA-AU 17 62634715 62634715 single base substitution G A intron_variant MELA-AU 17 62635333 62635333 single base substitution C G intron_variant MELA-AU 17 62635547 62635547 single base substitution T A intron_variant MELA-AU 17 62635666 62635666 single base substitution G A intron_variant MELA-AU 17 62636205 62636205 single base substitution G A intron_variant MELA-AU 17 62637043 62637043 single base substitution A C intron_variant MELA-AU 17 62637933 62637933 single base substitution G A intron_variant MELA-AU 17 62638300 62638300 single base substitution G A intron_variant MELA-AU 17 62638614 62638614 single base substitution A G intron_variant MELA-AU 17 62638951 62638951 single base substitution C T intron_variant MELA-AU 17 62639007 62639008 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 62639105 62639105 single base substitution G A intron_variant MELA-AU 17 62639632 62639632 deletion of <=200bp A - intron_variant MELA-AU 17 62639971 62639971 single base substitution G A intron_variant MELA-AU 17 62640013 62640013 single base substitution C T intron_variant MELA-AU 17 62640366 62640366 single base substitution G A intron_variant MELA-AU 17 62640624 62640624 single base substitution G A intron_variant MELA-AU 17 62641059 62641059 single base substitution G A intron_variant MELA-AU 17 62641161 62641161 single base substitution G A intron_variant MELA-AU 17 62642475 62642475 single base substitution G A intron_variant MELA-AU 17 62642857 62642857 single base substitution G A intron_variant MELA-AU 17 62643171 62643171 single base substitution C T intron_variant MELA-AU 17 62643522 62643522 single base substitution G A intron_variant MELA-AU 17 62643640 62643642 deletion of <=200bp ACA - intron_variant MELA-AU 17 62643811 62643811 single base substitution A G intron_variant MELA-AU 17 62643933 62643933 single base substitution G A intron_variant MELA-AU 17 62645079 62645079 single base substitution G A intron_variant MELA-AU 17 62645433 62645434 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 62645746 62645746 single base substitution G A intron_variant MELA-AU 17 62645937 62645937 single base substitution G A intron_variant MELA-AU 17 62646555 62646556 multiple base substitution (>=2bp and <=200bp) GT AG intron_variant MELA-AU 17 62646735 62646735 single base substitution G A intron_variant MELA-AU 17 62646813 62646813 single base substitution T A intron_variant MELA-AU 17 62646988 62646988 single base substitution G A intron_variant MELA-AU 17 62647139 62647139 single base substitution G A intron_variant MELA-AU 17 62647333 62647333 single base substitution G A intron_variant MELA-AU 17 62647858 62647858 single base substitution C T intron_variant MELA-AU 17 62647879 62647879 single base substitution A G intron_variant MELA-AU 17 62648173 62648173 single base substitution G A intron_variant MELA-AU 17 62649088 62649088 single base substitution A G intron_variant MELA-AU 17 62651211 62651211 single base substitution A T intron_variant MELA-AU 17 62651907 62651907 single base substitution G A intron_variant MELA-AU 17 62651932 62651932 single base substitution G A intron_variant MELA-AU 17 62652176 62652176 single base substitution G A intron_variant MELA-AU 17 62652200 62652200 single base substitution G A intron_variant MELA-AU 17 62652590 62652590 single base substitution A G intron_variant MELA-AU 17 62652639 62652639 single base substitution G A intron_variant MELA-AU 17 62652802 62652802 single base substitution A G intron_variant MELA-AU 17 62653642 62653642 insertion of <=200bp - TG intron_variant MELA-AU 17 62654170 62654170 single base substitution C T intron_variant MELA-AU 17 62654370 62654370 single base substitution G T intron_variant MELA-AU 17 62655270 62655270 single base substitution A G intron_variant MELA-AU 17 62656463 62656463 single base substitution C A intron_variant MELA-AU 17 62657581 62657581 single base substitution G A intron_variant MELA-AU 17 62657581 62657581 single base substitution G A upstream_gene_variant MELA-AU 17 62657737 62657737 deletion of <=200bp C - intron_variant MELA-AU 17 62657737 62657737 deletion of <=200bp C - upstream_gene_variant MELA-AU 17 62658945 62658945 single base substitution G A upstream_gene_variant MELA-AU 17 62659489 62659489 single base substitution A T upstream_gene_variant MELA-AU 17 62659682 62659682 single base substitution G A upstream_gene_variant MELA-AU 17 62659813 62659813 single base substitution C T upstream_gene_variant MELA-AU 17 62660118 62660118 single base substitution C T upstream_gene_variant MELA-AU 17 62660363 62660363 single base substitution C T upstream_gene_variant MELA-AU 17 62661646 62661646 single base substitution G A upstream_gene_variant MELA-AU 17 62661693 62661693 single base substitution G A upstream_gene_variant MELA-AU 17 62661700 62661700 single base substitution G A upstream_gene_variant MELA-AU 17 62661863 62661863 single base substitution G A upstream_gene_variant MELA-AU 17 62661961 62661961 single base substitution C T upstream_gene_variant MELA-AU 17 62662092 62662092 insertion of <=200bp - TTTTATTTTATTTTA upstream_gene_variant MELA-AU 17 62662163 62662163 single base substitution G A upstream_gene_variant MELA-AU 17 62662745 62662745 single base substitution C T upstream_gene_variant MELA-AU 17 62662780 62662780 single base substitution C T upstream_gene_variant MELA-AU 17 62662841 62662842 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 62662895 62662895 single base substitution C T upstream_gene_variant MELA-AU 17 62663009 62663009 single base substitution G A upstream_gene_variant MELA-AU 17 62663097 62663097 single base substitution C T upstream_gene_variant ORCA-IN 17 62533792 62533792 single base substitution A G downstream_gene_variant ORCA-IN 17 62557693 62557693 single base substitution C T 3_prime_UTR_variant ORCA-IN 17 62557693 62557693 single base substitution C T exon_variant ORCA-IN 17 62557693 62557693 single base substitution C T missense_variant R401K 1202G>A ORCA-IN 17 62557693 62557693 single base substitution C T missense_variant R414K 1241G>A ORCA-IN 17 62563362 62563362 single base substitution G A intron_variant ORCA-IN 17 62563362 62563362 single base substitution G A upstream_gene_variant ORCA-IN 17 62564196 62564196 single base substitution T C intron_variant ORCA-IN 17 62564196 62564196 single base substitution T C upstream_gene_variant ORCA-IN 17 62566808 62566808 single base substitution A G intron_variant ORCA-IN 17 62572070 62572070 single base substitution C T intron_variant ORCA-IN 17 62579643 62579643 single base substitution C T 3_prime_UTR_variant ORCA-IN 17 62579643 62579643 single base substitution C T intron_variant ORCA-IN 17 62579643 62579643 single base substitution C T missense_variant A156T 466G>A ORCA-IN 17 62579643 62579643 single base substitution C T missense_variant A169T 505G>A ORCA-IN 17 62593887 62593887 single base substitution T A intron_variant ORCA-IN 17 62595765 62595765 single base substitution T C intron_variant ORCA-IN 17 62595765 62595765 single base substitution T C upstream_gene_variant ORCA-IN 17 62628016 62628016 single base substitution C G intron_variant ORCA-IN 17 62634990 62634990 single base substitution G A intron_variant ORCA-IN 17 62635444 62635444 single base substitution C A intron_variant ORCA-IN 17 62637659 62637659 single base substitution C T intron_variant ORCA-IN 17 62644024 62644024 single base substitution A G intron_variant ORCA-IN 17 62644491 62644491 single base substitution G A intron_variant ORCA-IN 17 62662531 62662531 single base substitution T G upstream_gene_variant OV-AU 17 62540494 62540494 single base substitution C G 3_prime_UTR_variant OV-AU 17 62540494 62540494 single base substitution C G downstream_gene_variant OV-AU 17 62543830 62543830 single base substitution G C 3_prime_UTR_variant OV-AU 17 62543830 62543830 single base substitution G C synonymous_variant V653V 1959C>G OV-AU 17 62550324 62550324 single base substitution C T downstream_gene_variant OV-AU 17 62550324 62550324 single base substitution C T intron_variant OV-AU 17 62553934 62553934 single base substitution T G downstream_gene_variant OV-AU 17 62553934 62553934 single base substitution T G intron_variant OV-AU 17 62555110 62555110 single base substitution C G downstream_gene_variant OV-AU 17 62555110 62555110 single base substitution C G intron_variant OV-AU 17 62563084 62563084 single base substitution G T intron_variant OV-AU 17 62563084 62563084 single base substitution G T upstream_gene_variant OV-AU 17 62578444 62578444 single base substitution C A intron_variant OV-AU 17 62585484 62585484 single base substitution T A downstream_gene_variant OV-AU 17 62585484 62585484 single base substitution T A intron_variant OV-AU 17 62587986 62587986 single base substitution T A downstream_gene_variant OV-AU 17 62587986 62587986 single base substitution T A intron_variant OV-AU 17 62594752 62594752 single base substitution A T intron_variant OV-AU 17 62594752 62594752 single base substitution A T upstream_gene_variant OV-AU 17 62598741 62598741 single base substitution T A intron_variant OV-AU 17 62598741 62598741 single base substitution T A upstream_gene_variant OV-AU 17 62620032 62620032 single base substitution G C intron_variant OV-AU 17 62629639 62629639 single base substitution T C intron_variant OV-AU 17 62650419 62650419 single base substitution A G intron_variant OV-AU 17 62651684 62651684 single base substitution A C intron_variant OV-AU 17 62652889 62652889 single base substitution T C intron_variant OV-AU 17 62654058 62654058 single base substitution T A intron_variant OV-AU 17 62659983 62659983 single base substitution A C upstream_gene_variant OV-AU 17 62661948 62661948 single base substitution G C upstream_gene_variant PACA-AU 17 62537936 62537936 single base substitution C A downstream_gene_variant PACA-AU 17 62548400 62548400 deletion of <=200bp A - downstream_gene_variant PACA-AU 17 62548400 62548400 deletion of <=200bp A - intron_variant PACA-AU 17 62555713 62555715 deletion of <=200bp AAC - downstream_gene_variant PACA-AU 17 62555713 62555715 deletion of <=200bp AAC - intron_variant PACA-AU 17 62559045 62559045 single base substitution C A 3_prime_UTR_variant PACA-AU 17 62559045 62559045 single base substitution C A exon_variant PACA-AU 17 62559045 62559045 single base substitution C A intron_variant PACA-AU 17 62559045 62559045 single base substitution C A synonymous_variant V339V 1017G>T PACA-AU 17 62559045 62559045 single base substitution C A synonymous_variant V352V 1056G>T PACA-AU 17 62571671 62571671 single base substitution T A intron_variant PACA-AU 17 62572959 62572959 single base substitution G A intron_variant PACA-AU 17 62574922 62574922 single base substitution C T intron_variant PACA-AU 17 62590473 62590473 deletion of <=200bp A - intron_variant PACA-AU 17 62591065 62591065 single base substitution G A intron_variant PACA-AU 17 62597764 62597764 single base substitution C T intron_variant PACA-AU 17 62597764 62597764 single base substitution C T upstream_gene_variant PACA-AU 17 62598039 62598039 single base substitution G A intron_variant PACA-AU 17 62598039 62598039 single base substitution G A upstream_gene_variant PACA-AU 17 62600513 62600513 single base substitution C T intron_variant PACA-AU 17 62601917 62601917 single base substitution C G intron_variant PACA-AU 17 62602883 62602883 single base substitution T C intron_variant PACA-AU 17 62609684 62609684 single base substitution C T intron_variant PACA-AU 17 62615455 62615455 single base substitution G C intron_variant PACA-AU 17 62617602 62617602 single base substitution G T intron_variant PACA-AU 17 62618106 62618106 single base substitution A T intron_variant PACA-AU 17 62623508 62623508 single base substitution A C intron_variant PACA-AU 17 62623821 62623821 single base substitution T C intron_variant PACA-AU 17 62630795 62630795 single base substitution C T intron_variant PACA-AU 17 62636216 62636216 single base substitution T A intron_variant PACA-AU 17 62636663 62636663 single base substitution G A intron_variant PACA-AU 17 62636969 62636969 single base substitution G A intron_variant PACA-AU 17 62652166 62652166 single base substitution A C intron_variant PACA-AU 17 62658483 62658483 single base substitution G A upstream_gene_variant PACA-AU 17 62661086 62661086 deletion of <=200bp T - upstream_gene_variant PACA-CA 17 62534251 62534251 single base substitution G A downstream_gene_variant PACA-CA 17 62543061 62543061 single base substitution T C intron_variant PACA-CA 17 62546253 62546253 single base substitution T A downstream_gene_variant PACA-CA 17 62546253 62546253 single base substitution T A intron_variant PACA-CA 17 62546570 62546570 single base substitution A C downstream_gene_variant PACA-CA 17 62546570 62546570 single base substitution A C intron_variant PACA-CA 17 62549632 62549632 insertion of <=200bp - A downstream_gene_variant PACA-CA 17 62549632 62549632 insertion of <=200bp - A intron_variant PACA-CA 17 62554240 62554240 single base substitution G T downstream_gene_variant PACA-CA 17 62554240 62554240 single base substitution G T intron_variant PACA-CA 17 62557101 62557101 single base substitution A G intron_variant PACA-CA 17 62559322 62559322 single base substitution T C intron_variant PACA-CA 17 62559322 62559322 single base substitution T C upstream_gene_variant PACA-CA 17 62559660 62559660 single base substitution T C intron_variant PACA-CA 17 62559660 62559660 single base substitution T C upstream_gene_variant PACA-CA 17 62560497 62560497 single base substitution A G intron_variant PACA-CA 17 62560497 62560497 single base substitution A G upstream_gene_variant PACA-CA 17 62560978 62560978 single base substitution C T intron_variant PACA-CA 17 62560978 62560978 single base substitution C T upstream_gene_variant PACA-CA 17 62562024 62562024 single base substitution T C intron_variant PACA-CA 17 62562024 62562024 single base substitution T C upstream_gene_variant PACA-CA 17 62568844 62568866 deletion of <=200bp GAGGGCATGGTAGCTCCTTGCCC - intron_variant PACA-CA 17 62570051 62570051 single base substitution C A intron_variant PACA-CA 17 62571049 62571049 insertion of <=200bp - A intron_variant PACA-CA 17 62571301 62571301 single base substitution T A intron_variant PACA-CA 17 62576696 62576696 single base substitution G A intron_variant PACA-CA 17 62577956 62577956 single base substitution G C intron_variant PACA-CA 17 62578695 62578706 deletion of <=200bp TTCGATTTTTAT - intron_variant PACA-CA 17 62579079 62579079 single base substitution C T intron_variant PACA-CA 17 62579644 62579644 single base substitution G A 3_prime_UTR_variant PACA-CA 17 62579644 62579644 single base substitution G A intron_variant PACA-CA 17 62579644 62579644 single base substitution G A synonymous_variant T155T 465C>T PACA-CA 17 62579644 62579644 single base substitution G A synonymous_variant T168T 504C>T PACA-CA 17 62581187 62581187 single base substitution T A intron_variant PACA-CA 17 62581708 62581708 single base substitution A G intron_variant PACA-CA 17 62594726 62594726 single base substitution A C intron_variant PACA-CA 17 62594726 62594726 single base substitution A C upstream_gene_variant PACA-CA 17 62595677 62595677 single base substitution G A intron_variant PACA-CA 17 62595677 62595677 single base substitution G A upstream_gene_variant PACA-CA 17 62596242 62596242 single base substitution G A intron_variant PACA-CA 17 62596242 62596242 single base substitution G A upstream_gene_variant PACA-CA 17 62596372 62596372 single base substitution A T intron_variant PACA-CA 17 62596372 62596372 single base substitution A T upstream_gene_variant PACA-CA 17 62597959 62597972 deletion of <=200bp TGTGTGTGTGTATA - intron_variant PACA-CA 17 62597959 62597972 deletion of <=200bp TGTGTGTGTGTATA - upstream_gene_variant PACA-CA 17 62600857 62600857 single base substitution T A intron_variant PACA-CA 17 62606119 62606119 deletion of <=200bp A - intron_variant PACA-CA 17 62609314 62609314 single base substitution G A intron_variant PACA-CA 17 62610476 62610476 single base substitution A C intron_variant PACA-CA 17 62611063 62611063 single base substitution C T intron_variant PACA-CA 17 62613381 62613381 single base substitution G A intron_variant PACA-CA 17 62618103 62618103 single base substitution T A intron_variant PACA-CA 17 62619770 62619770 single base substitution G A intron_variant PACA-CA 17 62622393 62622393 single base substitution C A intron_variant PACA-CA 17 62622405 62622405 single base substitution G A intron_variant PACA-CA 17 62625068 62625068 single base substitution C T intron_variant PACA-CA 17 62626151 62626151 single base substitution C T intron_variant PACA-CA 17 62631220 62631220 single base substitution G A intron_variant PACA-CA 17 62631431 62631431 single base substitution C T intron_variant PACA-CA 17 62647335 62647335 single base substitution A G intron_variant PACA-CA 17 62652063 62652063 insertion of <=200bp - A intron_variant PACA-CA 17 62652277 62652277 single base substitution C A intron_variant PACA-CA 17 62652849 62652849 single base substitution T A intron_variant PACA-CA 17 62653132 62653132 single base substitution T C intron_variant PACA-CA 17 62654043 62654043 single base substitution C A intron_variant PACA-CA 17 62655145 62655145 single base substitution T C intron_variant PACA-CA 17 62656510 62656510 deletion of <=200bp A - intron_variant PACA-CA 17 62657193 62657193 insertion of <=200bp - C intron_variant PACA-CA 17 62657193 62657193 insertion of <=200bp - C upstream_gene_variant PACA-CA 17 62660568 62660568 single base substitution T C upstream_gene_variant PACA-CA 17 62660813 62660813 single base substitution C A upstream_gene_variant PAEN-AU 17 62619245 62619245 single base substitution A C intron_variant PAEN-AU 17 62639427 62639427 single base substitution C T intron_variant PAEN-IT 17 62587715 62587715 single base substitution A C downstream_gene_variant PAEN-IT 17 62587715 62587715 single base substitution A C intron_variant PAEN-IT 17 62594752 62594752 single base substitution A T intron_variant PAEN-IT 17 62594752 62594752 single base substitution A T upstream_gene_variant PAEN-IT 17 62617214 62617214 single base substitution T A intron_variant PAEN-IT 17 62623156 62623156 single base substitution T A intron_variant PBCA-DE 17 62544626 62544626 single base substitution C A intron_variant PBCA-DE 17 62551896 62551896 single base substitution G A downstream_gene_variant PBCA-DE 17 62551896 62551896 single base substitution G A intron_variant PBCA-DE 17 62569727 62569727 single base substitution T A intron_variant PBCA-DE 17 62576909 62576909 single base substitution T C intron_variant PBCA-DE 17 62576909 62576909 single base substitution T C missense_variant Y244C 731A>G PBCA-DE 17 62576909 62576909 single base substitution T C missense_variant Y257C 770A>G PBCA-DE 17 62576909 62576909 single base substitution T C splice_region_variant PBCA-DE 17 62579179 62579179 single base substitution C T intron_variant PBCA-DE 17 62594410 62594410 deletion of <=200bp A - intron_variant PBCA-DE 17 62596064 62596064 single base substitution A G intron_variant PBCA-DE 17 62596064 62596064 single base substitution A G upstream_gene_variant PBCA-DE 17 62604115 62604115 insertion of <=200bp - ATAAATAA intron_variant PBCA-DE 17 62610097 62610097 single base substitution G C intron_variant PBCA-DE 17 62647558 62647558 single base substitution C T intron_variant PBCA-DE 17 62657201 62657201 single base substitution C A intron_variant PBCA-DE 17 62657201 62657201 single base substitution C A upstream_gene_variant PBCA-DE 17 62658645 62658645 single base substitution C A upstream_gene_variant PRAD-CA 17 62537992 62537992 single base substitution T G downstream_gene_variant PRAD-CA 17 62551801 62551801 single base substitution G A downstream_gene_variant PRAD-CA 17 62551801 62551801 single base substitution G A intron_variant PRAD-CA 17 62590706 62590706 single base substitution G A intron_variant PRAD-CA 17 62597583 62597583 single base substitution T C intron_variant PRAD-CA 17 62597583 62597583 single base substitution T C upstream_gene_variant PRAD-CA 17 62627446 62627446 single base substitution C G intron_variant PRAD-CA 17 62640725 62640725 single base substitution A G intron_variant PRAD-CA 17 62640726 62640726 single base substitution G A intron_variant PRAD-CA 17 62647861 62647861 single base substitution T C intron_variant PRAD-CA 17 62662237 62662237 single base substitution C A upstream_gene_variant PRAD-UK 17 62544289 62544289 single base substitution T C intron_variant PRAD-UK 17 62549740 62549740 single base substitution C T downstream_gene_variant PRAD-UK 17 62549740 62549740 single base substitution C T intron_variant PRAD-UK 17 62559350 62559350 single base substitution T C intron_variant PRAD-UK 17 62559350 62559350 single base substitution T C upstream_gene_variant PRAD-UK 17 62562742 62562742 single base substitution T C intron_variant PRAD-UK 17 62562742 62562742 single base substitution T C upstream_gene_variant PRAD-UK 17 62574463 62574463 single base substitution A C intron_variant PRAD-UK 17 62576726 62576726 single base substitution A C intron_variant PRAD-UK 17 62586739 62586739 single base substitution T A downstream_gene_variant PRAD-UK 17 62586739 62586739 single base substitution T A intron_variant PRAD-UK 17 62588247 62588247 single base substitution C T downstream_gene_variant PRAD-UK 17 62588247 62588247 single base substitution C T intron_variant PRAD-UK 17 62594753 62594753 single base substitution A T intron_variant PRAD-UK 17 62594753 62594753 single base substitution A T upstream_gene_variant PRAD-UK 17 62599962 62599962 single base substitution A G intron_variant PRAD-UK 17 62614949 62614949 single base substitution T C intron_variant PRAD-UK 17 62617263 62617275 deletion of <=200bp CCAGACTCTGAAA - intron_variant PRAD-UK 17 62619428 62619428 single base substitution T C intron_variant PRAD-UK 17 62619959 62619959 single base substitution T C intron_variant PRAD-UK 17 62622606 62622606 single base substitution C A intron_variant PRAD-UK 17 62638707 62638707 single base substitution A C intron_variant PRAD-UK 17 62638726 62638726 single base substitution C A intron_variant PRAD-UK 17 62647885 62647885 insertion of <=200bp - A intron_variant READ-US 17 62582271 62582271 single base substitution C T 3_prime_UTR_variant READ-US 17 62582271 62582271 single base substitution C T intron_variant READ-US 17 62582271 62582271 single base substitution C T missense_variant D127N 379G>A READ-US 17 62582271 62582271 single base substitution C T missense_variant D140N 418G>A RECA-EU 17 62562684 62562684 single base substitution T G intron_variant RECA-EU 17 62562684 62562684 single base substitution T G upstream_gene_variant RECA-EU 17 62574838 62574838 single base substitution A T intron_variant RECA-EU 17 62579310 62579310 single base substitution T C intron_variant RECA-EU 17 62606777 62606777 single base substitution G A intron_variant RECA-EU 17 62611144 62611144 single base substitution G T intron_variant RECA-EU 17 62613504 62613504 single base substitution G T intron_variant RECA-EU 17 62615619 62615619 single base substitution A G intron_variant RECA-EU 17 62622325 62622325 single base substitution C A intron_variant RECA-EU 17 62627071 62627071 single base substitution T A intron_variant RECA-EU 17 62629876 62629876 single base substitution G T intron_variant RECA-EU 17 62645221 62645221 single base substitution C A intron_variant SKCA-BR 17 62536065 62536065 single base substitution A C downstream_gene_variant SKCA-BR 17 62541851 62541852 deletion of <=200bp AG - 3_prime_UTR_variant SKCA-BR 17 62541852 62541852 single base substitution G A 3_prime_UTR_variant SKCA-BR 17 62541858 62541858 single base substitution G C 3_prime_UTR_variant SKCA-BR 17 62545648 62545648 single base substitution T G intron_variant SKCA-BR 17 62550822 62550822 single base substitution A T downstream_gene_variant SKCA-BR 17 62550822 62550822 single base substitution A T intron_variant SKCA-BR 17 62551841 62551841 single base substitution A G downstream_gene_variant SKCA-BR 17 62551841 62551841 single base substitution A G intron_variant SKCA-BR 17 62556573 62556573 single base substitution G A downstream_gene_variant SKCA-BR 17 62556573 62556573 single base substitution G A intron_variant SKCA-BR 17 62558520 62558520 single base substitution G A intron_variant SKCA-BR 17 62562539 62562539 single base substitution C T intron_variant SKCA-BR 17 62562539 62562539 single base substitution C T upstream_gene_variant SKCA-BR 17 62567583 62567583 single base substitution G A intron_variant SKCA-BR 17 62568632 62568632 single base substitution C T intron_variant SKCA-BR 17 62568999 62568999 single base substitution C T intron_variant SKCA-BR 17 62570163 62570163 single base substitution G A intron_variant SKCA-BR 17 62573094 62573094 single base substitution T C intron_variant SKCA-BR 17 62574059 62574059 insertion of <=200bp - CT intron_variant SKCA-BR 17 62574416 62574416 single base substitution G A intron_variant SKCA-BR 17 62575056 62575056 single base substitution G A intron_variant SKCA-BR 17 62577058 62577058 single base substitution A C 3_prime_UTR_variant SKCA-BR 17 62577058 62577058 single base substitution A C intron_variant SKCA-BR 17 62577058 62577058 single base substitution A C missense_variant D194E 582T>G SKCA-BR 17 62577058 62577058 single base substitution A C missense_variant D207E 621T>G SKCA-BR 17 62579675 62579675 single base substitution T A intron_variant SKCA-BR 17 62580021 62580021 single base substitution T C intron_variant SKCA-BR 17 62585672 62585672 single base substitution T G downstream_gene_variant SKCA-BR 17 62585672 62585672 single base substitution T G intron_variant SKCA-BR 17 62586262 62586262 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 17 62586262 62586262 insertion of <=200bp - CT intron_variant SKCA-BR 17 62586453 62586453 single base substitution G T downstream_gene_variant SKCA-BR 17 62586453 62586453 single base substitution G T intron_variant SKCA-BR 17 62589176 62589176 single base substitution G A exon_variant SKCA-BR 17 62589176 62589176 single base substitution G A intron_variant SKCA-BR 17 62590347 62590347 single base substitution A T intron_variant SKCA-BR 17 62593200 62593200 single base substitution G A intron_variant SKCA-BR 17 62599701 62599701 single base substitution G A intron_variant SKCA-BR 17 62599701 62599704 deletion of <=200bp GAAA - intron_variant SKCA-BR 17 62603189 62603189 single base substitution C T intron_variant SKCA-BR 17 62604114 62604114 insertion of <=200bp - CATAA intron_variant SKCA-BR 17 62605639 62605639 single base substitution G A intron_variant SKCA-BR 17 62613286 62613286 single base substitution G A intron_variant SKCA-BR 17 62616554 62616554 single base substitution A G intron_variant SKCA-BR 17 62617635 62617635 single base substitution T G intron_variant SKCA-BR 17 62618070 62618070 insertion of <=200bp - CAAT intron_variant SKCA-BR 17 62618188 62618188 single base substitution G A intron_variant SKCA-BR 17 62620954 62620954 single base substitution A T intron_variant SKCA-BR 17 62622371 62622371 single base substitution G A intron_variant SKCA-BR 17 62622572 62622572 single base substitution G A intron_variant SKCA-BR 17 62632083 62632083 single base substitution C T intron_variant SKCA-BR 17 62634715 62634715 single base substitution G A intron_variant SKCA-BR 17 62636962 62636962 single base substitution G A intron_variant SKCA-BR 17 62639536 62639536 single base substitution A G intron_variant SKCA-BR 17 62642417 62642417 single base substitution C A intron_variant SKCA-BR 17 62643770 62643770 single base substitution G A intron_variant SKCA-BR 17 62649386 62649386 single base substitution G A intron_variant SKCA-BR 17 62653256 62653256 single base substitution G A intron_variant SKCA-BR 17 62656147 62656147 single base substitution C T intron_variant SKCA-BR 17 62660899 62660899 single base substitution G A upstream_gene_variant SKCA-BR 17 62662091 62662091 insertion of <=200bp - TTTTTATTTTATTTTA upstream_gene_variant SKCM-US 17 62553739 62553739 single base substitution G A 3_prime_UTR_variant SKCM-US 17 62553739 62553739 single base substitution G A downstream_gene_variant SKCM-US 17 62553739 62553739 single base substitution G A missense_variant S460F 1379C>T SKCM-US 17 62553739 62553739 single base substitution G A missense_variant S473F 1418C>T SKCM-US 17 62553786 62553786 single base substitution G A 3_prime_UTR_variant SKCM-US 17 62553786 62553786 single base substitution G A downstream_gene_variant SKCM-US 17 62553786 62553786 single base substitution G A exon_variant SKCM-US 17 62553786 62553786 single base substitution G A synonymous_variant F444F 1332C>T SKCM-US 17 62553786 62553786 single base substitution G A synonymous_variant F457F 1371C>T SKCM-US 17 62557655 62557655 single base substitution G A 3_prime_UTR_variant SKCM-US 17 62557655 62557655 single base substitution G A exon_variant SKCM-US 17 62557655 62557655 single base substitution G A missense_variant R414C 1240C>T SKCM-US 17 62557655 62557655 single base substitution G A missense_variant R427C 1279C>T SKCM-US 17 62568040 62568040 single base substitution G A 3_prime_UTR_variant SKCM-US 17 62568040 62568040 single base substitution G A intron_variant SKCM-US 17 62568040 62568040 single base substitution G A missense_variant P285S 853C>T SKCM-US 17 62568040 62568040 single base substitution G A missense_variant P298S 892C>T SKCM-US 17 62579628 62579628 single base substitution G A 3_prime_UTR_variant SKCM-US 17 62579628 62579628 single base substitution G A intron_variant SKCM-US 17 62579628 62579628 single base substitution G A stop_gained Q161* 481C>T SKCM-US 17 62579628 62579628 single base substitution G A stop_gained Q174* 520C>T SKCM-US 17 62579637 62579637 single base substitution C T 3_prime_UTR_variant SKCM-US 17 62579637 62579637 single base substitution C T intron_variant SKCM-US 17 62579637 62579637 single base substitution C T missense_variant G158R 472G>A SKCM-US 17 62579637 62579637 single base substitution C T missense_variant G171R 511G>A SKCM-US 17 62594524 62594524 single base substitution G A exon_variant SKCM-US 17 62594524 62594524 single base substitution G A intron_variant SKCM-US 17 62594524 62594524 single base substitution G A missense_variant P46L 137C>T SKCM-US 17 62594524 62594524 single base substitution G A missense_variant P59L 176C>T SKCM-US 17 62594596 62594596 single base substitution G A exon_variant SKCM-US 17 62594596 62594596 single base substitution G A intron_variant SKCM-US 17 62594596 62594596 single base substitution G A missense_variant P22L 65C>T SKCM-US 17 62594596 62594596 single base substitution G A missense_variant P35L 104C>T SKCM-US 17 62594596 62594596 single base substitution G A upstream_gene_variant STAD-US 17 62542381 62542381 single base substitution C T missense_variant C716Y 2147G>A STAD-US 17 62542381 62542381 single base substitution C T splice_region_variant STAD-US 17 62551006 62551006 single base substitution A G 3_prime_UTR_variant STAD-US 17 62551006 62551006 single base substitution A G downstream_gene_variant STAD-US 17 62551006 62551006 single base substitution A G synonymous_variant P559P 1677T>C STAD-US 17 62551006 62551006 single base substitution A G synonymous_variant P572P 1716T>C STAD-US 17 62574630 62574630 single base substitution C T 3_prime_UTR_variant STAD-US 17 62574630 62574630 single base substitution C T intron_variant STAD-US 17 62574630 62574630 single base substitution C T stop_gained W266* 798G>A STAD-US 17 62574630 62574630 single base substitution C T stop_gained W279* 837G>A STAD-US 17 62582238 62582238 single base substitution A G 3_prime_UTR_variant STAD-US 17 62582238 62582238 single base substitution A G intron_variant STAD-US 17 62582238 62582238 single base substitution A G missense_variant C138R 412T>C STAD-US 17 62582238 62582238 single base substitution A G missense_variant C151R 451T>C STAD-US 17 62587239 62587239 single base substitution C T 3_prime_UTR_variant STAD-US 17 62587239 62587239 single base substitution C T downstream_gene_variant STAD-US 17 62587239 62587239 single base substitution C T intron_variant STAD-US 17 62587239 62587239 single base substitution C T synonymous_variant G108G 324G>A STAD-US 17 62587239 62587239 single base substitution C T synonymous_variant G121G 363G>A STAD-US 17 62589575 62589575 single base substitution C T 3_prime_UTR_variant STAD-US 17 62589575 62589575 single base substitution C T exon_variant STAD-US 17 62589575 62589575 single base substitution C T intron_variant STAD-US 17 62589575 62589575 single base substitution C T missense_variant R106H 317G>A STAD-US 17 62589575 62589575 single base substitution C T missense_variant R93H 278G>A STAD-US 17 62589599 62589599 single base substitution C T 3_prime_UTR_variant STAD-US 17 62589599 62589599 single base substitution C T exon_variant STAD-US 17 62589599 62589599 single base substitution C T intron_variant STAD-US 17 62589599 62589599 single base substitution C T missense_variant R85H 254G>A STAD-US 17 62589599 62589599 single base substitution C T missense_variant R98H 293G>A STAD-US 17 62594568 62594568 single base substitution A G exon_variant STAD-US 17 62594568 62594568 single base substitution A G intron_variant STAD-US 17 62594568 62594568 single base substitution A G synonymous_variant S31S 93T>C STAD-US 17 62594568 62594568 single base substitution A G synonymous_variant S44S 132T>C STAD-US 17 62594568 62594568 single base substitution A G upstream_gene_variant THCA-US 17 62542046 62542046 single base substitution G A 3_prime_UTR_variant THCA-US 17 62542046 62542046 single base substitution G A missense_variant P723S 2167C>T UCEC-US 17 62542057 62542057 single base substitution C T 3_prime_UTR_variant UCEC-US 17 62542057 62542057 single base substitution C T missense_variant R719Q 2156G>A UCEC-US 17 62542441 62542441 single base substitution C T 3_prime_UTR_variant UCEC-US 17 62542441 62542441 single base substitution C T missense_variant R696K 2087G>A UCEC-US 17 62543722 62543722 single base substitution C T 3_prime_UTR_variant UCEC-US 17 62543722 62543722 single base substitution C T synonymous_variant L689L 2067G>A UCEC-US 17 62543726 62543726 single base substitution G C 3_prime_UTR_variant UCEC-US 17 62543726 62543726 single base substitution G C missense_variant A688G 2063C>G UCEC-US 17 62547721 62547721 single base substitution A G 3_prime_UTR_variant UCEC-US 17 62547721 62547721 single base substitution A G downstream_gene_variant UCEC-US 17 62547721 62547721 single base substitution A G missense_variant F617S 1850T>C UCEC-US 17 62551111 62551111 single base substitution A G downstream_gene_variant UCEC-US 17 62551111 62551111 single base substitution A G splice_region_variant UCEC-US 17 62552003 62552003 single base substitution C T 3_prime_UTR_variant UCEC-US 17 62552003 62552003 single base substitution C T downstream_gene_variant UCEC-US 17 62552003 62552003 single base substitution C T synonymous_variant K502K 1506G>A UCEC-US 17 62552003 62552003 single base substitution C T synonymous_variant K515K 1545G>A UCEC-US 17 62558898 62558898 single base substitution C A 3_prime_UTR_variant UCEC-US 17 62558898 62558898 single base substitution C A exon_variant UCEC-US 17 62558898 62558898 single base substitution C A intron_variant UCEC-US 17 62558898 62558898 single base substitution C A missense_variant E388D 1164G>T UCEC-US 17 62558898 62558898 single base substitution C A missense_variant E401D 1203G>T UCEC-US 17 62579633 62579633 single base substitution C A 3_prime_UTR_variant UCEC-US 17 62579633 62579633 single base substitution C A intron_variant UCEC-US 17 62579633 62579633 single base substitution C A missense_variant R159I 476G>T UCEC-US 17 62579633 62579633 single base substitution C A missense_variant R172I 515G>T UCEC-US 17 62579636 62579636 single base substitution C T 3_prime_UTR_variant UCEC-US 17 62579636 62579636 single base substitution C T intron_variant UCEC-US 17 62579636 62579636 single base substitution C T missense_variant G158E 473G>A UCEC-US 17 62579636 62579636 single base substitution C T missense_variant G171E 512G>A UCEC-US 17 62582248 62582248 single base substitution T C 3_prime_UTR_variant UCEC-US 17 62582248 62582248 single base substitution T C intron_variant UCEC-US 17 62582248 62582248 single base substitution T C synonymous_variant Q134Q 402A>G UCEC-US 17 62582248 62582248 single base substitution T C synonymous_variant Q147Q 441A>G UCEC-US 17 62589640 62589640 single base substitution C T 3_prime_UTR_variant UCEC-US 17 62589640 62589640 single base substitution C T exon_variant UCEC-US 17 62589640 62589640 single base substitution C T intron_variant UCEC-US 17 62589640 62589640 single base substitution C T synonymous_variant K71K 213G>A UCEC-US 17 62589640 62589640 single base substitution C T synonymous_variant K84K 252G>A UCEC-US 17 62594511 62594511 single base substitution C T exon_variant UCEC-US 17 62594511 62594511 single base substitution C T intron_variant UCEC-US 17 62594511 62594511 single base substitution C T synonymous_variant Q50Q 150G>A UCEC-US 17 62594511 62594511 single base substitution C T synonymous_variant Q63Q 189G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AM-5820-01 COSM2796386 c.234T>C p.S78S Substitution - coding silent 17:64593540-64593540 - 96 COSM5013217 c.439C>A p.Q147K Substitution - Missense 17:64586132-64586132 - SC_9008 COSM1180843 c.53-5delT p.? Unknown 17:64606645-64606645 - RK119_C01 COSM3742393 c.271G>C p.A91P Substitution - Missense 17:64593503-64593503 - TCGA-BR-4362-01 COSM4068745 c.363G>A p.G121G Substitution - coding silent 17:64591121-64591121 - TCGA-BR-7707-01 COSM4068742 c.1716T>C p.P572P Substitution - coding silent 17:64554888-64554888 - TCGA-EE-A2GO-06 COSM3520981 c.520C>T p.Q174* Substitution - Nonsense 17:64583510-64583510 - TCGA-EK-A3GK-01 COSM4852808 c.124G>C p.D42H Substitution - Missense 17:64598458-64598458 - TCGA-B5-A11E-01 COSM982952 c.2063C>G p.A688G Substitution - Missense 17:64547608-64547608 - TCGA-FS-A1ZA-06 COSM3520979 c.1279C>T p.R427C Substitution - Missense 17:64561537-64561537 - TCGA-C8-A12M-01 COSM437163 c.1412_1413delCT p.P471fs*5 Deletion - Frameshift 17:64557626-64557627 - TCGA-BS-A0UV-01 COSM982961 c.252G>A p.K84K Substitution - coding silent 17:64593522-64593522 - TCGA-A7-A56D-01 COSM3820265 c.1678A>G p.I560V Substitution - Missense 17:64554926-64554926 - PDA_068 COSM5001563 c.1614G>T p.E538D Substitution - Missense 17:64554990-64554990 - S02344 COSM5693464 c.1312G>T p.A438S Substitution - Missense 17:64561504-64561504 - SK00102_M COSM1600041 c.785C>T p.T262M Substitution - Missense 17:64578564-64578564 - STC297 COSM5055696 c.1775G>A p.R592Q Substitution - Missense 17:64551678-64551678 - NPC15F COSM4887306 c.505G>A p.A169T Substitution - Missense 17:64583525-64583525 - MEL-JWCI-WGS-34 COSM1167590 c.68delA p.N23fs*3 Deletion - Frameshift 17:64606625-64606625 - CS07 COSM4967419 c.851T>C p.V284A Substitution - Missense 17:64578498-64578498 - SNUH_G42_S1 COSM4000256 c.898C>T p.P300S Substitution - Missense 17:64571916-64571916 - TCGA-B0-5710-01 COSM473210 c.743A>G p.H248R Substitution - Missense 17:64580818-64580818 - TCGA-EE-A181-06 COSM3520982 c.511G>A p.G171R Substitution - Missense 17:64583519-64583519 - PT48 COSM5933661 c.1210G>A p.E404K Substitution - Missense 17:64562773-64562773 - CSCC-55-T COSM4532749 c.1914G>A p.K638K Substitution - coding silent 17:64547757-64547757 - TCGA-BR-4184-01 COSM4068743 c.837G>A p.W279* Substitution - Nonsense 17:64578512-64578512 - I-01 COSM4767076 c.2213C>T p.A738V Substitution - Missense 17:64545882-64545882 - PD13302a COSM5783428 c.632C>A p.P211Q Substitution - Missense 17:64580929-64580929 - TCGA-AP-A0LM-01 COSM982960 c.441A>G p.Q147Q Substitution - coding silent 17:64586130-64586130 - TCGA-AP-A051-01 COSM982955 c.1545G>A p.K515K Substitution - coding silent 17:64555885-64555885 - Au3 COSM3520979 c.1279C>T p.R427C Substitution - Missense 17:64561537-64561537 - TCGA-EE-A2GU-06 COSM3520977 c.1418C>T p.S473F Substitution - Missense 17:64557621-64557621 - CSCC-57-T COSM4484597 c.282C>T p.L94L Substitution - coding silent 17:64593492-64593492 - T142 COSM307565 c.1502_1505delATGG p.D501fs*23 Deletion - Frameshift 17:64555925-64555928 - HCC40 COSM1610632 c.524A>G p.Y175C Substitution - Missense 17:64583506-64583506 - T578 COSM4728604 c.675T>G p.D225E Substitution - Missense 17:64580886-64580886 - TCGA-B5-A11E-01 COSM982959 c.512G>A p.G171E Substitution - Missense 17:64583518-64583518 - TCGA-AP-A056-01 COSM982962 c.189G>A p.Q63Q Substitution - coding silent 17:64598393-64598393 - PD4107a COSM219714 c.1771_1802del32 p.L591fs*5 Deletion - Frameshift 17:64551651-64551682 - HCC99 COSM3717532 c.1363G>A p.G455S Substitution - Missense 17:64557676-64557676 - P09-649 COSM247480 c.994G>T p.A332S Substitution - Missense 17:64571820-64571820 - 8034061 COSM3388099 c.1056G>T p.V352V Substitution - coding silent 17:64562927-64562927 - TCGA-GN-A266-06 COSM3520979 c.1279C>T p.R427C Substitution - Missense 17:64561537-64561537 - 91T COSM108626 c.1222C>T p.R408* Substitution - Nonsense 17:64561594-64561594 - TCGA-HT-7875-01 COSM3970240 c.778A>G p.R260G Substitution - Missense 17:64578571-64578571 - ME009T COSM223901 c.2053G>A p.G685S Substitution - Missense 17:64547618-64547618 - TCGA-BR-6852-01 COSM4068748 c.132T>C p.S44S Substitution - coding silent 17:64598450-64598450 - TCGA-CA-6718-01 COSM1385321 c.261G>A p.K87K Substitution - coding silent 17:64593513-64593513 - BHY COSM4592218 c.875A>G p.N292S Substitution - Missense 17:64571939-64571939 - BD110T COSM1226913 c.560G>A p.R187H Substitution - Missense 17:64583470-64583470 - TCGA-CM-6162-01 COSM1385314 c.2184_2185insAT p.E729fs*9 Insertion - Frameshift 17:64545910-64545911 - 61 COSM5741100 c.1478C>A p.A493D Substitution - Missense 17:64555952-64555952 - C086 COSM5539460 c.1194C>T p.S398S Substitution - coding silent 17:64562789-64562789 - sysucc-1317T COSM5449027 c.2076T>C p.A692A Substitution - coding silent 17:64546334-64546334 - 587284 COSM1226913 c.560G>A p.R187H Substitution - Missense 17:64583470-64583470 - TCGA-B5-A11E-01 COSM982951 c.2067G>A p.L689L Substitution - coding silent 17:64547604-64547604 - TCGA-BR-8363-01 COSM4068744 c.451T>C p.C151R Substitution - Missense 17:64586120-64586120 - TCGA-BS-A0UF-01 COSM982958 c.515G>T p.R172I Substitution - Missense 17:64583515-64583515 - 545 COSM5612770 c.569G>A p.R190Q Substitution - Missense 17:64583461-64583461 - S02328 COSM5691921 c.608G>A p.S203N Substitution - Missense 17:64580953-64580953 - sysucc-274T COSM5475957 c.1308C>T p.G436G Substitution - coding silent 17:64561508-64561508 - TCGA-BT-A2LA-01 COSM1303201 c.1547C>T p.S516L Substitution - Missense 17:64555883-64555883 - 783-01-11TD COSM5416494 c.1496A>G p.Y499C Substitution - Missense 17:64555934-64555934 - NCI-H1395 COSM24280 c.1774C>T p.R592* Substitution - Nonsense 17:64551679-64551679 - DLD1 COSM2796367 c.1429C>T p.P477S Substitution - Missense 17:64557610-64557610 - TCGA-BP-4803-01 COSM3362300 c.808T>A p.L270I Substitution - Missense 17:64578541-64578541 - PD7217a COSM5791869 c.1174C>T p.H392Y Substitution - Missense 17:64562809-64562809 - AOCS-153-1-2 COSM4139753 c.1959C>G p.V653V Substitution - coding silent 17:64547712-64547712 - ccRCC-40 COSM1664284 c.1175A>G p.H392R Substitution - Missense 17:64562808-64562808 - TCGA-FS-A1ZA-06 COSM3520983 c.176C>T p.P59L Substitution - Missense 17:64598406-64598406 - HCC20T COSM1610633 c.228G>T p.T76T Substitution - coding silent 17:64593546-64593546 - TCGA-KS-A4I9-01 COSM3370858 c.2167C>T p.P723S Substitution - Missense 17:64545928-64545928 - LUAD-E01317 COSM403716 c.631C>G p.P211A Substitution - Missense 17:64580930-64580930 - 56576 COSM1582980 c.1582G>A p.D528N Substitution - Missense 17:64555848-64555848 - HCT15 COSM2796367 c.1429C>T p.P477S Substitution - Missense 17:64557610-64557610 - SK00102_P COSM1600041 c.785C>T p.T262M Substitution - Missense 17:64578564-64578564 - 587222 COSM982958 c.515G>T p.R172I Substitution - Missense 17:64583515-64583515 - CSCC-37-T COSM4452069 c.1568A>T p.E523V Substitution - Missense 17:64555862-64555862 - TCGA-D1-A176-01 COSM982963 c.91+1G>A p.? Unknown 17:64606601-64606601 - TCGA-AC-A2QI-01 COSM3820264 c.1819G>A p.E607K Substitution - Missense 17:64551634-64551634 - CSCC-55-T COSM4566898 c.503_504CC>TT p.T168I Substitution - Missense 17:64583526-64583527 - TCGA-ER-A193-06 COSM3520980 c.892C>T p.P298S Substitution - Missense 17:64571922-64571922 - BD236T COSM1180843 c.53-5delT p.? Unknown 17:64606645-64606645 - 326_CLM COSM5755109 c.1180C>T p.R394C Substitution - Missense 17:64562803-64562803 - Pat_06_A COSM5853250 c.1990G>T p.D664Y Substitution - Missense 17:64547681-64547681 - TCGA-BS-A0UF-01 COSM982950 c.2087G>A p.R696K Substitution - Missense 17:64546323-64546323 - TCGA-AZ-6601-01 COSM1385320 c.458G>A p.R153H Substitution - Missense 17:64586113-64586113 - LUAD-RT-S01777 COSM382026 c.1813T>A p.F605I Substitution - Missense 17:64551640-64551640 - TCGA-AP-A059-01 COSM982956 c.1203G>T p.E401D Substitution - Missense 17:64562780-64562780 - TCGA-BP-4790-01 COSM3362298 c.2109T>A p.I703I Substitution - coding silent 17:64546301-64546301 - Pat_45_B COSM5853252 c.214T>C p.S72P Substitution - Missense 17:64593560-64593560 - LIM2405 COSM4642152 c.1430C>T p.P477L Substitution - Missense 17:64557609-64557609 - TCGA-HU-A4H2-01 COSM4068741 c.2147G>A p.C716Y Substitution - Missense 17:64546263-64546263 - ATL075 COSM5706496 c.389G>T p.G130V Substitution - Missense 17:64591095-64591095 - PD4100a COSM164493 c.1961A>T p.K654I Substitution - Missense 17:64547710-64547710 - IGROV-1 COSM1680007 c.779G>T p.R260M Substitution - Missense 17:64578570-64578570 - ESCC-055T COSM3937510 c.1665A>G p.A555A Substitution - coding silent 17:64554939-64554939 - HCC40T COSM1610632 c.524A>G p.Y175C Substitution - Missense 17:64583506-64583506 - TCGA-CM-6162-01 COSM1385315 c.2179_2180insA p.S727fs*3 Insertion - Frameshift 17:64545915-64545916 - TCGA-AP-A0LM-01 COSM982954 c.1611T>C p.L537L Substitution - coding silent 17:64554993-64554993 - 169 COSM3729694 c.2113G>A p.A705T Substitution - Missense 17:64546297-64546297 - TCGA-EE-A2GS-06 COSM3520978 c.1371C>T p.F457F Substitution - coding silent 17:64557668-64557668 - TCGA-FS-A1ZW-06 COSM3520984 c.104C>T p.P35L Substitution - Missense 17:64598478-64598478 - sysucc-1317T COSM5449028 c.1181G>A p.R394H Substitution - Missense 17:64562802-64562802 - TCGA-BP-4164-01 COSM1135982 c.508T>C p.S170P Substitution - Missense 17:64583522-64583522 - TCGA-EI-6507-01 COSM1563703 c.418G>A p.D140N Substitution - Missense 17:64586153-64586153 - C086 COSM5539459 c.1193C>T p.S398F Substitution - Missense 17:64562790-64562790 - TCGA-FI-A2F8-01 COSM982953 c.1850T>C p.F617S Substitution - Missense 17:64551603-64551603 - S00946 COSM315457 c.1356A>T p.P452P Substitution - coding silent 17:64557683-64557683 - HCC99T COSM3717532 c.1363G>A p.G455S Substitution - Missense 17:64557676-64557676 - TCGA-E2-A574-01 COSM3820266 c.1108C>G p.R370G Substitution - Missense 17:64562875-64562875 - Pat_41_B COSM5853251 c.332G>A p.G111D Substitution - Missense 17:64593442-64593442 - YUBER COSM1710650 c.1519C>G p.P507A Substitution - Missense 17:64555911-64555911 - TCGA-EW-A1PC-01 COSM3820263 c.2110G>A p.D704N Substitution - Missense 17:64546300-64546300 - OSCC-GB_00950111 COSM4881872 c.1241G>A p.R414K Substitution - Missense 17:64561575-64561575 - 24T COSM108829 c.298C>T p.L100F Substitution - Missense 17:64593476-64593476 - TCGA-D1-A176-01 COSM982957 c.1016+2T>A p.? Unknown 17:64571796-64571796 - PCSI_0274_Pa_P_526 COSM4965725 c.504C>T p.T168T Substitution - coding silent 17:64583526-64583526 - 91T COSM108066 c.1585C>T p.L529F Substitution - Missense 17:64555845-64555845 - ICGC_MB50 COSM215702 c.770A>G p.Y257C Substitution - Missense 17:64580791-64580791 - 587332 COSM1180843 c.53-5delT p.? Unknown 17:64606645-64606645 - TCGA-BR-8361-01 COSM4068746 c.317G>A p.R106H Substitution - Missense 17:64593457-64593457 - TCGA-GV-A3JZ-01 COSM1303200 c.2014C>G p.L672V Substitution - Missense 17:64547657-64547657 - TCGA-BS-A0UF-01 COSM982949 c.2156G>A p.R719Q Substitution - Missense 17:64545939-64545939 - TCGA-EE-A3JA-06 COSM3520979 c.1279C>T p.R427C Substitution - Missense 17:64561537-64561537 - 6115118 COSM5550469 c.2236G>A p.A746T Substitution - Missense 17:64545859-64545859 - GHE0624 COSM5714383 c.815C>T p.T272I Substitution - Missense 17:64578534-64578534 - OSCC-GB_00820111 COSM4887306 c.505G>A p.A169T Substitution - Missense 17:64583525-64583525 - PT33 COSM5909630 c.992C>T p.S331F Substitution - Missense 17:64571822-64571822 - YURAY COSM5387056 c.587C>T p.S196F Substitution - Missense 17:64580974-64580974 - PD4107a COSM219714 c.1771_1802del32 p.L591fs*5 Deletion - Frameshift 17:64551651-64551682 - TCGA-D7-6815-01 COSM4068747 c.293G>A p.R98H Substitution - Missense 17:64593481-64593481 - LP6007594 COSM4410077 c.1104C>T p.Y368Y Substitution - coding silent 17:64562879-64562879 - ESO-0149 COSM1266314 c.89_90insT p.R31fs*4 Insertion - Frameshift 17:64606603-64606604 - TCGA-BP-4787-01 COSM3362299 c.1585C>G p.L529V Substitution - Missense 17:64555845-64555845 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.515011 17q22-q23 605532

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - A Frameshift p.R31Pfs*4 c.89dupT 17 62602722 ESCA A G 3-UTRSNV . c.2244+301T>C 17 62541668 DLBCL AG - Frameshift p.P471Rfs*5 c.1412_1413delCT 17 62553744 BRCA A G IntronicSNV . c.401-2339T>C 17 62584627 PIA A G Missense p.F617S c.1850T>C 17 62547721 UCEC A G Synonymous p.S44S c.132T>C 17 62594568 STAD A T Missense p.L270I c.808T>A 17 62574659 RCCC A T Synonymous p.I703I c.2109T>A 17 62542419 RCCC C G Missense p.G111A c.332G>C 17 62589560 CM C T Missense p.G171R c.511G>A 17 62579637 CM C T Missense p.G685S c.2053G>A 17 62543736 CM C T Missense p.R370Q c.1109G>A 17 62558992 LUAD G A Missense p.P298S c.892C>T 17 62568040 CM G A Missense p.P35L c.104C>T 17 62594596 CM G A Missense p.P59L c.176C>T 17 62594524 CM G A Missense p.R427C c.1279C>T 17 62557655 CM G A Missense p.S473F c.1418C>T 17 62553739 CM G A Missense p.S516L c.1547C>T 17 62552001 BLCA G A Missense p.S679F c.2036C>T 17 62543753 HNSC G A Missense p.T76M c.227C>T 17 62589665 HNSC G A Nonsense p.Q174* c.520C>T 17 62579628 CM G A Synonymous p.F457F c.1371C>T 17 62553786 CM G C IntronicSNV . c.1611-58C>G 17 62551169 NSCLC G C Missense p.L176V c.526C>G 17 62579622 HNSC G C Missense p.L529V c.1585C>G 17 62551963 RCCC G C Missense p.L672V c.2014C>G 17 62543775 BLCA T A IntronicSNV . c.401-1382A>T 17 62583670 CLL T A IntronicSNV . c.401-650A>T 17 62582938 CLL T A Missense p.K654I c.1961A>T 17 62543828 BRCA T A Synonymous p.P452P c.1356A>T 17 62553801 SCLC T C Missense p.H248R c.743A>G 17 62576936 RCCC T C Missense p.I291V c.871A>G 17 62568061 LUAD T C Missense p.Y257C c.770A>G 17 62576909 MB T C Synonymous p.A555A c.1665A>G 17 62551057 LUAD T - Frameshift p.N23Tfs*3 c.68delA 17 62602743 CM