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 11 34181459 34181459 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 g.chr11:34181459G>C c.2600C>G c.(2599-2601)tCt>tGt p.S867C BLCA 11 34182492 34182492 + Silent SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 g.chr11:34182492G>A c.2355C>T c.(2353-2355)acC>acT p.T785T BLCA 11 34189480 34189480 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr11:34189480C>A c.1623G>T c.(1621-1623)ttG>ttT p.L541F BLCA 11 34226117 34226117 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 g.chr11:34226117G>A c.1004C>T c.(1003-1005)aCc>aTc p.T335I BLCA 11 34378498 34378499 + Frame_Shift_Ins INS - - A TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 g.chr11:34378498_34378499insA c.632_633insT c.(631-633)ttcfs p.F211fs BRCA 11 34173993 34173993 + Missense_Mutation SNP C C T TCGA-E9-A1RA-01A-11D-A14G-09 TCGA-E9-A1RA-10A-01D-A14G-09 g.chr11:34173993C>T c.3019G>A c.(3019-3021)Gac>Aac p.D1007N BRCA 11 34182470 34182470 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 g.chr11:34182470C>T c.2377G>A c.(2377-2379)Gac>Aac p.D793N BRCA 11 34186251 34186251 + Nonsense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr11:34186251G>C c.1970C>G c.(1969-1971)tCa>tGa p.S657* BRCA 11 34192619 34192619 + Splice_Site SNP C C T TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 g.chr11:34192619C>T c.e5-1 BRCA 11 34378311 34378311 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr11:34378311C>T c.820G>A c.(820-822)Gac>Aac p.D274N CESC 11 34189500 34189500 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 g.chr11:34189500C>T c.1603G>A c.(1603-1605)Gaa>Aaa p.E535K CESC 11 34378318 34378318 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr11:34378318G>C c.813C>G c.(811-813)atC>atG p.I271M CHOL 11 34194737 34194737 + Silent SNP C C T TCGA-ZH-A8Y6-01A-11D-A417-09 TCGA-ZH-A8Y6-10A-01D-A41A-09 g.chr11:34194737C>T c.1362G>A c.(1360-1362)ctG>ctA p.L454L COAD 11 34180876 34180876 + Silent SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr11:34180876G>A c.2664C>T c.(2662-2664)atC>atT p.I888I COAD 11 34181814 34181814 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr11:34181814C>A c.2484G>T c.(2482-2484)aaG>aaT p.K828N COAD 11 34182513 34182515 + In_Frame_Del DEL CTC CTC - TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr11:34182513_34182515delCTC c.2332_2334delGAG c.(2332-2334)gagdel p.E778del COAD 11 34184237 34184237 + Missense_Mutation SNP C C A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr11:34184237C>A c.2104G>T c.(2104-2106)Ggc>Tgc p.G702C COAD 11 34192470 34192470 + Missense_Mutation SNP T T C TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr11:34192470T>C c.1546A>G c.(1546-1548)Aac>Gac p.N516D COAD 11 34378258 34378258 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr11:34378258C>T c.873G>A c.(871-873)aaG>aaA p.K291K COADREAD 11 34180876 34180876 + Silent SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr11:34180876G>A c.2664C>T c.(2662-2664)atC>atT p.I888I COADREAD 11 34181814 34181814 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr11:34181814C>A c.2484G>T c.(2482-2484)aaG>aaT p.K828N COADREAD 11 34182513 34182515 + In_Frame_Del DEL CTC CTC - TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr11:34182513_34182515delCTC c.2332_2334delGAG c.(2332-2334)gagdel p.E778del COADREAD 11 34184237 34184237 + Missense_Mutation SNP C C A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr11:34184237C>A c.2104G>T c.(2104-2106)Ggc>Tgc p.G702C COADREAD 11 34192470 34192470 + Missense_Mutation SNP T T C TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr11:34192470T>C c.1546A>G c.(1546-1548)Aac>Gac p.N516D COADREAD 11 34378258 34378258 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr11:34378258C>T c.873G>A c.(871-873)aaG>aaA p.K291K DLBC 11 34176262 34176262 + Missense_Mutation SNP T T C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr11:34176262T>C c.2752A>G c.(2752-2754)Act>Gct p.T918A DLBC 11 34226140 34226140 + Silent SNP G G T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr11:34226140G>T c.981C>A c.(979-981)acC>acA p.T327T ESCA 11 34186322 34186322 + Silent SNP G G A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 g.chr11:34186322G>A c.1899C>T c.(1897-1899)ccC>ccT p.P633P ESCA 11 34194800 34194800 + Silent SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 g.chr11:34194800G>A c.1299C>T c.(1297-1299)taC>taT p.Y433Y GBMLGG 11 34175835 34175835 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:34175835C>T c.2857G>A c.(2857-2859)Gtg>Atg p.V953M GBMLGG 11 34176285 34176285 + Missense_Mutation SNP G G A TCGA-E1-5322-01A-01D-1468-08 TCGA-E1-5322-10A-01D-1468-08 g.chr11:34176285G>A c.2729C>T c.(2728-2730)aCa>aTa p.T910I GBMLGG 11 34182569 34182569 + Missense_Mutation SNP G G A TCGA-HT-7601-01A-11D-2086-08 TCGA-HT-7601-10A-01D-2086-08 g.chr11:34182569G>A c.2278C>T c.(2278-2280)Cgg>Tgg p.R760W GBMLGG 11 34184211 34184211 + Silent SNP G G A TCGA-HT-A617-01A-11D-A29Q-08 TCGA-HT-A617-10A-01D-A29Q-08 g.chr11:34184211G>A c.2130C>T c.(2128-2130)agC>agT p.S710S GBMLGG 11 34218941 34218941 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:34218941C>T c.1175G>A c.(1174-1176)cGg>cAg p.R392Q HNSC 11 34174075 34174075 + Missense_Mutation SNP C C T TCGA-P3-A5QF-01A-11D-A28R-08 TCGA-P3-A5QF-10A-01D-A28U-08 g.chr11:34174075C>T c.2937G>A c.(2935-2937)atG>atA p.M979I HNSC 11 34175833 34175833 + Silent SNP C C T TCGA-P3-A5QF-01A-11D-A28R-08 TCGA-P3-A5QF-10A-01D-A28U-08 g.chr11:34175833C>T c.2859G>A c.(2857-2859)gtG>gtA p.V953V HNSC 11 34176283 34176283 + Missense_Mutation SNP C C T TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 g.chr11:34176283C>T c.2731G>A c.(2731-2733)Gaa>Aaa p.E911K HNSC 11 34182611 34182611 + Missense_Mutation SNP G G A TCGA-CQ-6219-01A-11D-1912-08 TCGA-CQ-6219-10A-01D-1912-08 g.chr11:34182611G>A c.2236C>T c.(2236-2238)Cac>Tac p.H746Y HNSC 11 34182628 34182628 + Splice_Site SNP C C G TCGA-P3-A5QF-01A-11D-A28R-08 TCGA-P3-A5QF-10A-01D-A28U-08 g.chr11:34182628C>G c.2219G>C c.(2218-2220)gGa>gCa p.G740A HNSC 11 34194744 34194744 + Missense_Mutation SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 g.chr11:34194744C>T c.1355G>A c.(1354-1356)cGg>cAg p.R452Q HNSC 11 34219030 34219030 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 g.chr11:34219030C>T c.1086G>A c.(1084-1086)ccG>ccA p.P362P KICH 11 34192538 34192538 + Missense_Mutation SNP C C T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr11:34192538C>T c.1478G>A c.(1477-1479)cGc>cAc p.R493H KIPAN 11 34174107 34174107 + Missense_Mutation SNP G G T TCGA-A3-3349-01A-01D-1251-10 TCGA-A3-3349-11A-01D-1251-10 g.chr11:34174107G>T c.2905C>A c.(2905-2907)Ctg>Atg p.L969M KIPAN 11 34175904 34175904 + Missense_Mutation SNP A A T TCGA-B0-4814-01A-01D-1361-10 TCGA-B0-4814-11A-01D-1361-10 g.chr11:34175904A>T c.2788T>A c.(2788-2790)Ttc>Atc p.F930I KIPAN 11 34192538 34192538 + Missense_Mutation SNP C C T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr11:34192538C>T c.1478G>A c.(1477-1479)cGc>cAc p.R493H KIPAN 11 34378374 34378374 + Missense_Mutation SNP C C A TCGA-B0-4827-01A-02D-1421-08 TCGA-B0-4827-11A-01D-1421-08 g.chr11:34378374C>A c.757G>T c.(757-759)Gat>Tat p.D253Y KIRC 11 34174107 34174107 + Missense_Mutation SNP G G T TCGA-A3-3349-01A-01D-1251-10 TCGA-A3-3349-11A-01D-1251-10 g.chr11:34174107G>T c.2905C>A c.(2905-2907)Ctg>Atg p.L969M KIRC 11 34175904 34175904 + Missense_Mutation SNP A A T TCGA-B0-4814-01A-01D-1361-10 TCGA-B0-4814-11A-01D-1361-10 g.chr11:34175904A>T c.2788T>A c.(2788-2790)Ttc>Atc p.F930I KIRC 11 34378374 34378374 + Missense_Mutation SNP C C A TCGA-B0-4827-01A-02D-1421-08 TCGA-B0-4827-11A-01D-1421-08 g.chr11:34378374C>A c.757G>T c.(757-759)Gat>Tat p.D253Y LGG 11 34175835 34175835 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:34175835C>T c.2857G>A c.(2857-2859)Gtg>Atg p.V953M LGG 11 34176285 34176285 + Missense_Mutation SNP G G A TCGA-E1-5322-01A-01D-1468-08 TCGA-E1-5322-10A-01D-1468-08 g.chr11:34176285G>A c.2729C>T c.(2728-2730)aCa>aTa p.T910I LGG 11 34182569 34182569 + Missense_Mutation SNP G G A TCGA-HT-7601-01A-11D-2086-08 TCGA-HT-7601-10A-01D-2086-08 g.chr11:34182569G>A c.2278C>T c.(2278-2280)Cgg>Tgg p.R760W LGG 11 34184211 34184211 + Silent SNP G G A TCGA-HT-A617-01A-11D-A29Q-08 TCGA-HT-A617-10A-01D-A29Q-08 g.chr11:34184211G>A c.2130C>T c.(2128-2130)agC>agT p.S710S LGG 11 34218941 34218941 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:34218941C>T c.1175G>A c.(1174-1176)cGg>cAg p.R392Q LIHC 11 34180864 34180864 + Missense_Mutation SNP G G T TCGA-DD-AACN-01A-11D-A40R-10 TCGA-DD-AACN-10A-01D-A40U-10 g.chr11:34180864G>T c.2676C>A c.(2674-2676)gaC>gaA p.D892E LIHC 11 34189528 34189528 + Silent SNP T T G TCGA-DD-A4NO-01A-11D-A28X-10 TCGA-DD-A4NO-10A-01D-A28X-10 g.chr11:34189528T>G c.1575A>C c.(1573-1575)ccA>ccC p.P525P LIHC 11 34192494 34192494 + Missense_Mutation SNP C C T TCGA-5C-A9VG-01A-11D-A36X-10 TCGA-5C-A9VG-10A-01D-A370-10 g.chr11:34192494C>T c.1522G>A c.(1522-1524)Gag>Aag p.E508K LUAD 11 34173997 34173997 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 g.chr11:34173997C>T c.3015G>A c.(3013-3015)ctG>ctA p.L1005L LUAD 11 34181802 34181802 + Silent SNP G G T TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr11:34181802G>T c.2496C>A c.(2494-2496)gcC>gcA p.A832A LUAD 11 34182595 34182595 + Missense_Mutation SNP G G C TCGA-17-Z015-01A-01W-0746-08 TCGA-17-Z015-11A-01W-0746-08 g.chr11:34182595G>C c.2252C>G c.(2251-2253)tCt>tGt p.S751C LUAD 11 34218874 34218874 + Silent SNP T T C TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr11:34218874T>C c.1242A>G c.(1240-1242)gaA>gaG p.E414E LUAD 11 34218979 34218979 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 g.chr11:34218979C>A c.1137G>T c.(1135-1137)tgG>tgT p.W379C LUAD 11 34378353 34378353 + Missense_Mutation SNP C C A TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 g.chr11:34378353C>A c.778G>T c.(778-780)Ggg>Tgg p.G260W LUSC 11 34180853 34180853 + Missense_Mutation SNP T T C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 g.chr11:34180853T>C c.2687A>G c.(2686-2688)cAc>cGc p.H896R LUSC 11 34226167 34226167 + Missense_Mutation SNP A A C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 g.chr11:34226167A>C c.954T>G c.(952-954)gaT>gaG p.D318E LUSC 11 34378571 34378571 + Missense_Mutation SNP A A T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 g.chr11:34378571A>T c.560T>A c.(559-561)aTg>aAg p.M187K PAAD 11 34181856 34181856 + Nonsense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr11:34181856G>T c.2442C>A c.(2440-2442)tgC>tgA p.C814* PAAD 11 34182562 34182562 + Missense_Mutation SNP G G A TCGA-LB-A7SX-01A-11D-A33T-08 TCGA-LB-A7SX-10A-01D-A33W-08 g.chr11:34182562G>A c.2285C>T c.(2284-2286)tCg>tTg p.S762L PAAD 11 34184254 34184254 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 g.chr11:34184254G>A c.2087C>T c.(2086-2088)gCg>gTg p.A696V PAAD 11 34194836 34194836 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr11:34194836C>T c.1263G>A c.(1261-1263)ccG>ccA p.P421P PAAD 11 34218927 34218927 + Nonsense_Mutation SNP C C A TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 g.chr11:34218927C>A c.1189G>T c.(1189-1191)Gag>Tag p.E397* PAAD 11 34218997 34218997 + Silent SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 g.chr11:34218997C>T c.1119G>A c.(1117-1119)ccG>ccA p.P373P PAAD 11 34226220 34226220 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 g.chr11:34226220C>T c.901G>A c.(901-903)Gca>Aca p.A301T PRAD 11 34186310 34186310 + Missense_Mutation SNP C C A TCGA-EJ-A46D-01A-21D-A257-08 TCGA-EJ-A46D-10A-01D-A25A-08 g.chr11:34186310C>A c.1911G>T c.(1909-1911)atG>atT p.M637I SARC 11 34180930 34180930 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 g.chr11:34180930G>A c.2610C>T c.(2608-2610)ttC>ttT p.F870F SARC 11 34194817 34194817 + Missense_Mutation SNP G G A TCGA-DX-AB3B-01A-11D-A417-09 TCGA-DX-AB3B-10A-01D-A41A-09 g.chr11:34194817G>A c.1282C>T c.(1282-1284)Cgc>Tgc p.R428C SKCM 11 34180931 34180931 + Missense_Mutation SNP A A T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr11:34180931A>T c.2609T>A c.(2608-2610)tTc>tAc p.F870Y SKCM 11 34181501 34181501 + Missense_Mutation SNP C C T TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr11:34181501C>T c.2558G>A c.(2557-2559)gGa>gAa p.G853E SKCM 11 34181535 34181535 + Missense_Mutation SNP T T C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 g.chr11:34181535T>C c.2524A>G c.(2524-2526)Aag>Gag p.K842E SKCM 11 34181823 34181823 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr11:34181823C>T c.2475G>A c.(2473-2475)gaG>gaA p.E825E SKCM 11 34192558 34192558 + Silent SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr11:34192558G>A c.1458C>T c.(1456-1458)ttC>ttT p.F486F SKCM 11 34194758 34194758 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr11:34194758G>A c.1341C>T c.(1339-1341)atC>atT p.I447I SKCM 11 34218898 34218898 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr11:34218898G>A c.1218C>T c.(1216-1218)ccC>ccT p.P406P SKCM 11 34226129 34226129 + Missense_Mutation SNP G G A TCGA-ER-A2NC-06A-11D-A197-08 TCGA-ER-A2NC-10A-01D-A199-08 g.chr11:34226129G>A c.992C>T c.(991-993)tCc>tTc p.S331F SKCM 11 34226192 34226192 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 g.chr11:34226192G>A c.929C>T c.(928-930)tCc>tTc p.S310F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 11 34226200 34226200 single base substitution G A exon_variant ALL-US 11 34226200 34226200 single base substitution G A synonymous_variant N121N 363C>T ALL-US 11 34226200 34226200 single base substitution G A synonymous_variant N307N 921C>T BLCA-CN 11 34180918 34180918 single base substitution C T missense_variant M688I 2064G>A BLCA-CN 11 34180918 34180918 single base substitution C T missense_variant M874I 2622G>A BLCA-US 11 34167693 34167693 single base substitution G C downstream_gene_variant BLCA-US 11 34181459 34181459 single base substitution G C missense_variant S681C 2042C>G BLCA-US 11 34181459 34181459 single base substitution G C missense_variant S867C 2600C>G BLCA-US 11 34189480 34189480 single base substitution C A missense_variant L355F 1065G>T BLCA-US 11 34189480 34189480 single base substitution C A missense_variant L541F 1623G>T BLCA-US 11 34226117 34226117 single base substitution G A exon_variant BLCA-US 11 34226117 34226117 single base substitution G A missense_variant T149I 446C>T BLCA-US 11 34226117 34226117 single base substitution G A missense_variant T335I 1004C>T BRCA-EU 11 34171539 34171539 single base substitution C T downstream_gene_variant BRCA-EU 11 34174534 34174534 single base substitution G C intron_variant BRCA-EU 11 34174754 34174754 single base substitution G C intron_variant BRCA-EU 11 34177657 34177657 single base substitution C G intron_variant BRCA-EU 11 34179283 34179283 single base substitution A C intron_variant BRCA-EU 11 34179952 34179952 single base substitution C T intron_variant BRCA-EU 11 34180697 34180697 single base substitution G C intron_variant BRCA-EU 11 34183843 34183843 single base substitution G A intron_variant BRCA-EU 11 34184288 34184288 single base substitution C T missense_variant E499K 1495G>A BRCA-EU 11 34184288 34184288 single base substitution C T missense_variant E685K 2053G>A BRCA-EU 11 34184608 34184608 single base substitution G A intron_variant BRCA-EU 11 34184832 34184832 single base substitution G C intron_variant BRCA-EU 11 34185486 34185486 single base substitution T A intron_variant BRCA-EU 11 34185715 34185715 single base substitution T C intron_variant BRCA-EU 11 34187235 34187235 single base substitution G A intron_variant BRCA-EU 11 34188081 34188081 single base substitution G A intron_variant BRCA-EU 11 34188347 34188347 single base substitution G A intron_variant BRCA-EU 11 34188491 34188491 single base substitution C G intron_variant BRCA-EU 11 34188547 34188547 single base substitution G A intron_variant BRCA-EU 11 34189087 34189087 single base substitution C A intron_variant BRCA-EU 11 34189300 34189300 deletion of <=200bp A - intron_variant BRCA-EU 11 34190808 34190808 single base substitution C T downstream_gene_variant BRCA-EU 11 34190808 34190808 single base substitution C T intron_variant BRCA-EU 11 34194814 34194814 single base substitution C T exon_variant BRCA-EU 11 34194814 34194814 single base substitution C T missense_variant V243M 727G>A BRCA-EU 11 34194814 34194814 single base substitution C T missense_variant V429M 1285G>A BRCA-EU 11 34197712 34197712 single base substitution G A intron_variant BRCA-EU 11 34197728 34197728 single base substitution G C intron_variant BRCA-EU 11 34201086 34201086 single base substitution C G intron_variant BRCA-EU 11 34201181 34201181 single base substitution T C intron_variant BRCA-EU 11 34202534 34202534 single base substitution C A intron_variant BRCA-EU 11 34203665 34203665 single base substitution C T intron_variant BRCA-EU 11 34205291 34205291 single base substitution A T intron_variant BRCA-EU 11 34205384 34205384 single base substitution G T intron_variant BRCA-EU 11 34206696 34206696 single base substitution G A intron_variant BRCA-EU 11 34206733 34206733 single base substitution C A intron_variant BRCA-EU 11 34207768 34207768 single base substitution G C intron_variant BRCA-EU 11 34212922 34212922 single base substitution C G intron_variant BRCA-EU 11 34213665 34213665 single base substitution C A intron_variant BRCA-EU 11 34215096 34215096 single base substitution C G intron_variant BRCA-EU 11 34215939 34215939 single base substitution C T intron_variant BRCA-EU 11 34216071 34216071 single base substitution G C intron_variant BRCA-EU 11 34216250 34216250 single base substitution C T intron_variant BRCA-EU 11 34216943 34216943 single base substitution G T intron_variant BRCA-EU 11 34217222 34217222 single base substitution C G intron_variant BRCA-EU 11 34217566 34217566 single base substitution G C intron_variant BRCA-EU 11 34218134 34218134 single base substitution G C intron_variant BRCA-EU 11 34219149 34219149 single base substitution C T intron_variant BRCA-EU 11 34219890 34219890 single base substitution T G intron_variant BRCA-EU 11 34221339 34221339 deletion of <=200bp A - intron_variant BRCA-EU 11 34221369 34221369 single base substitution G C intron_variant BRCA-EU 11 34221581 34221581 single base substitution G T intron_variant BRCA-EU 11 34225481 34225481 single base substitution T C intron_variant BRCA-EU 11 34225839 34225839 single base substitution G A intron_variant BRCA-EU 11 34226366 34226366 single base substitution C G intron_variant BRCA-EU 11 34230004 34230004 single base substitution A C intron_variant BRCA-EU 11 34231671 34231671 single base substitution G A intron_variant BRCA-EU 11 34234751 34234751 single base substitution G A intron_variant BRCA-EU 11 34235168 34235168 single base substitution G C intron_variant BRCA-EU 11 34235769 34235769 single base substitution C G intron_variant BRCA-EU 11 34235835 34235835 single base substitution C T intron_variant BRCA-EU 11 34235903 34235903 single base substitution G T intron_variant BRCA-EU 11 34237803 34237803 single base substitution G C intron_variant BRCA-EU 11 34238930 34238930 single base substitution G C intron_variant BRCA-EU 11 34244824 34244824 single base substitution C G intron_variant BRCA-EU 11 34245037 34245037 single base substitution T A intron_variant BRCA-EU 11 34245328 34245328 single base substitution C A intron_variant BRCA-EU 11 34245454 34245454 single base substitution A C intron_variant BRCA-EU 11 34246830 34246830 single base substitution C G intron_variant BRCA-EU 11 34247012 34247012 single base substitution G C intron_variant BRCA-EU 11 34248950 34248950 single base substitution C G intron_variant BRCA-EU 11 34249229 34249229 single base substitution T C intron_variant BRCA-EU 11 34249520 34249520 single base substitution G A intron_variant BRCA-EU 11 34250303 34250303 single base substitution G T intron_variant BRCA-EU 11 34250620 34250620 single base substitution T A intron_variant BRCA-EU 11 34250709 34250709 single base substitution C G intron_variant BRCA-EU 11 34251634 34251634 single base substitution C T intron_variant BRCA-EU 11 34252259 34252259 single base substitution G A intron_variant BRCA-EU 11 34255633 34255633 insertion of <=200bp - T intron_variant BRCA-EU 11 34256857 34256857 single base substitution C G intron_variant BRCA-EU 11 34257659 34257659 single base substitution G A intron_variant BRCA-EU 11 34257807 34257807 insertion of <=200bp - A intron_variant BRCA-EU 11 34259829 34259829 single base substitution A G intron_variant BRCA-EU 11 34259918 34259918 single base substitution A G intron_variant BRCA-EU 11 34262275 34262275 single base substitution G T intron_variant BRCA-EU 11 34262437 34262437 single base substitution T C intron_variant BRCA-EU 11 34262477 34262477 insertion of <=200bp - T intron_variant BRCA-EU 11 34265514 34265514 single base substitution A G intron_variant BRCA-EU 11 34265514 34265514 single base substitution A G upstream_gene_variant BRCA-EU 11 34267685 34267685 single base substitution G C intron_variant BRCA-EU 11 34267685 34267685 single base substitution G C upstream_gene_variant BRCA-EU 11 34268463 34268463 single base substitution C G intron_variant BRCA-EU 11 34268463 34268463 single base substitution C G upstream_gene_variant BRCA-EU 11 34271855 34271855 single base substitution G A intron_variant BRCA-EU 11 34271865 34271865 single base substitution A T intron_variant BRCA-EU 11 34271917 34271917 single base substitution G A intron_variant BRCA-EU 11 34272137 34272137 single base substitution C T intron_variant BRCA-EU 11 34273655 34273655 single base substitution G A intron_variant BRCA-EU 11 34274010 34274010 single base substitution C T intron_variant BRCA-EU 11 34274907 34274907 single base substitution C T intron_variant BRCA-EU 11 34275124 34275124 single base substitution G A intron_variant BRCA-EU 11 34275238 34275239 deletion of <=200bp AT - intron_variant BRCA-EU 11 34275371 34275371 single base substitution T G intron_variant BRCA-EU 11 34275985 34275985 single base substitution G C intron_variant BRCA-EU 11 34276963 34276963 single base substitution G T intron_variant BRCA-EU 11 34278383 34278383 single base substitution C A intron_variant BRCA-EU 11 34279720 34279720 single base substitution C T intron_variant BRCA-EU 11 34280203 34280203 single base substitution G A intron_variant BRCA-EU 11 34281636 34281636 single base substitution A G intron_variant BRCA-EU 11 34282137 34282137 single base substitution G C intron_variant BRCA-EU 11 34282653 34282653 single base substitution G C intron_variant BRCA-EU 11 34282861 34282861 single base substitution G C intron_variant BRCA-EU 11 34283161 34283171 deletion of <=200bp ATAAACCCCAG - intron_variant BRCA-EU 11 34284034 34284034 single base substitution C T intron_variant BRCA-EU 11 34286291 34286291 single base substitution C T intron_variant BRCA-EU 11 34286315 34286315 single base substitution G A intron_variant BRCA-EU 11 34286335 34286335 single base substitution C A intron_variant BRCA-EU 11 34288260 34288260 single base substitution T A intron_variant BRCA-EU 11 34289535 34289535 single base substitution T C intron_variant BRCA-EU 11 34290288 34290288 single base substitution C G intron_variant BRCA-EU 11 34290373 34290373 single base substitution G A intron_variant BRCA-EU 11 34290435 34290435 single base substitution G A intron_variant BRCA-EU 11 34290965 34290965 single base substitution G A intron_variant BRCA-EU 11 34291222 34291222 single base substitution G C intron_variant BRCA-EU 11 34292445 34292445 single base substitution T C intron_variant BRCA-EU 11 34292777 34292777 single base substitution G C intron_variant BRCA-EU 11 34292790 34292790 single base substitution C A intron_variant BRCA-EU 11 34293381 34293381 single base substitution G C intron_variant BRCA-EU 11 34293688 34293688 single base substitution C A intron_variant BRCA-EU 11 34293689 34293689 single base substitution C A intron_variant BRCA-EU 11 34294412 34294412 single base substitution G A intron_variant BRCA-EU 11 34294835 34294835 single base substitution T C intron_variant BRCA-EU 11 34298115 34298115 single base substitution C T intron_variant BRCA-EU 11 34298688 34298688 single base substitution A T intron_variant BRCA-EU 11 34299036 34299038 deletion of <=200bp AAC - intron_variant BRCA-EU 11 34299991 34299991 single base substitution T G intron_variant BRCA-EU 11 34300537 34300537 single base substitution T C intron_variant BRCA-EU 11 34301030 34301030 single base substitution A G intron_variant BRCA-EU 11 34301770 34301770 single base substitution G A intron_variant BRCA-EU 11 34303496 34303496 single base substitution G A intron_variant BRCA-EU 11 34304212 34304212 single base substitution T C intron_variant BRCA-EU 11 34304241 34304241 deletion of <=200bp T - intron_variant BRCA-EU 11 34305665 34305665 single base substitution C T intron_variant BRCA-EU 11 34305872 34305872 single base substitution A T intron_variant BRCA-EU 11 34306570 34306572 deletion of <=200bp GGA - intron_variant BRCA-EU 11 34306937 34306937 single base substitution A G intron_variant BRCA-EU 11 34308620 34308620 single base substitution G C intron_variant BRCA-EU 11 34310121 34310121 single base substitution A T intron_variant BRCA-EU 11 34310833 34310833 single base substitution A G intron_variant BRCA-EU 11 34311181 34311181 single base substitution A G intron_variant BRCA-EU 11 34311987 34311987 single base substitution C T intron_variant BRCA-EU 11 34315533 34315533 single base substitution A T intron_variant BRCA-EU 11 34317949 34317949 single base substitution G A intron_variant BRCA-EU 11 34318229 34318229 single base substitution C G intron_variant BRCA-EU 11 34319422 34319422 single base substitution C T intron_variant BRCA-EU 11 34320830 34320830 single base substitution C T intron_variant BRCA-EU 11 34320906 34320906 single base substitution T A intron_variant BRCA-EU 11 34321373 34321373 single base substitution G C intron_variant BRCA-EU 11 34323077 34323077 single base substitution A G intron_variant BRCA-EU 11 34323334 34323334 single base substitution C A intron_variant BRCA-EU 11 34323420 34323420 single base substitution G C intron_variant BRCA-EU 11 34323534 34323534 deletion of <=200bp A - intron_variant BRCA-EU 11 34324110 34324110 single base substitution A C intron_variant BRCA-EU 11 34324885 34324885 single base substitution C T intron_variant BRCA-EU 11 34325062 34325062 single base substitution C G intron_variant BRCA-EU 11 34325423 34325423 single base substitution C G intron_variant BRCA-EU 11 34326962 34326962 single base substitution A G intron_variant BRCA-EU 11 34327868 34327868 single base substitution A G intron_variant BRCA-EU 11 34327980 34327980 single base substitution G T intron_variant BRCA-EU 11 34329479 34329479 single base substitution C T intron_variant BRCA-EU 11 34330633 34330633 single base substitution A C intron_variant BRCA-EU 11 34330882 34330882 single base substitution T A intron_variant BRCA-EU 11 34330944 34330944 single base substitution C A intron_variant BRCA-EU 11 34331885 34331885 single base substitution G T intron_variant BRCA-EU 11 34332446 34332446 single base substitution A G intron_variant BRCA-EU 11 34333007 34333007 single base substitution C G intron_variant BRCA-EU 11 34333117 34333117 single base substitution G T intron_variant BRCA-EU 11 34333464 34333464 single base substitution G A intron_variant BRCA-EU 11 34333756 34333756 single base substitution G T intron_variant BRCA-EU 11 34334282 34334282 single base substitution C A intron_variant BRCA-EU 11 34338237 34338237 deletion of <=200bp A - intron_variant BRCA-EU 11 34338237 34338237 single base substitution A T intron_variant BRCA-EU 11 34339019 34339019 single base substitution G C intron_variant BRCA-EU 11 34339086 34339086 single base substitution G A intron_variant BRCA-EU 11 34339630 34339630 single base substitution C T intron_variant BRCA-EU 11 34340551 34340551 single base substitution G C intron_variant BRCA-EU 11 34342195 34342195 single base substitution T G intron_variant BRCA-EU 11 34342661 34342661 single base substitution G A intron_variant BRCA-EU 11 34343681 34343681 single base substitution C G intron_variant BRCA-EU 11 34343778 34343778 single base substitution G C intron_variant BRCA-EU 11 34343921 34343921 single base substitution G A intron_variant BRCA-EU 11 34344041 34344041 single base substitution G C intron_variant BRCA-EU 11 34344585 34344585 single base substitution C T intron_variant BRCA-EU 11 34346159 34346159 single base substitution C T intron_variant BRCA-EU 11 34346181 34346181 single base substitution G C intron_variant BRCA-EU 11 34346200 34346200 single base substitution A T intron_variant BRCA-EU 11 34348566 34348566 single base substitution G A intron_variant BRCA-EU 11 34348820 34348820 single base substitution A C intron_variant BRCA-EU 11 34349461 34349461 single base substitution C T intron_variant BRCA-EU 11 34351636 34351636 single base substitution C T intron_variant BRCA-EU 11 34352927 34352927 single base substitution G T intron_variant BRCA-EU 11 34355380 34355380 single base substitution G A intron_variant BRCA-EU 11 34357240 34357240 single base substitution C T intron_variant BRCA-EU 11 34358220 34358220 single base substitution A C intron_variant BRCA-EU 11 34359367 34359367 single base substitution C T intron_variant BRCA-EU 11 34359802 34359802 single base substitution C T intron_variant BRCA-EU 11 34363571 34363571 single base substitution G C intron_variant BRCA-EU 11 34364287 34364287 single base substitution T C intron_variant BRCA-EU 11 34364551 34364551 single base substitution C G intron_variant BRCA-EU 11 34365303 34365303 single base substitution G C intron_variant BRCA-EU 11 34365783 34365813 deletion of <=200bp ATTTTAATGACAGGAAACAACAGAGTTGATG - intron_variant BRCA-EU 11 34366783 34366783 single base substitution G C intron_variant BRCA-EU 11 34366884 34366884 single base substitution G C intron_variant BRCA-EU 11 34367727 34367727 single base substitution A T intron_variant BRCA-EU 11 34367999 34367999 single base substitution T C intron_variant BRCA-EU 11 34369029 34369029 single base substitution C T intron_variant BRCA-EU 11 34369385 34369385 single base substitution C G intron_variant BRCA-EU 11 34370657 34370657 single base substitution T A intron_variant BRCA-EU 11 34372698 34372698 single base substitution G C intron_variant BRCA-EU 11 34375026 34375026 single base substitution C G intron_variant BRCA-EU 11 34375847 34375847 deletion of <=200bp G - intron_variant BRCA-EU 11 34378261 34378261 single base substitution G C synonymous_variant G104G 312C>G BRCA-EU 11 34378261 34378261 single base substitution G C synonymous_variant G290G 870C>G BRCA-EU 11 34379866 34379866 single base substitution G A upstream_gene_variant BRCA-EU 11 34379960 34379960 single base substitution C T upstream_gene_variant BRCA-EU 11 34380244 34380244 single base substitution C T upstream_gene_variant BRCA-EU 11 34381619 34381619 single base substitution G C upstream_gene_variant BRCA-EU 11 34382781 34382781 single base substitution C T upstream_gene_variant BRCA-EU 11 34382886 34382886 single base substitution G C upstream_gene_variant BRCA-EU 11 34383033 34383033 single base substitution G T upstream_gene_variant BRCA-EU 11 34383246 34383246 single base substitution G C upstream_gene_variant BRCA-EU 11 34384393 34384393 single base substitution T G upstream_gene_variant BRCA-FR 11 34188347 34188347 single base substitution G A intron_variant BRCA-FR 11 34194814 34194814 single base substitution C T exon_variant BRCA-FR 11 34194814 34194814 single base substitution C T missense_variant V243M 727G>A BRCA-FR 11 34194814 34194814 single base substitution C T missense_variant V429M 1285G>A BRCA-FR 11 34202534 34202534 single base substitution C A intron_variant BRCA-FR 11 34212922 34212922 single base substitution C G intron_variant BRCA-FR 11 34225839 34225839 single base substitution G A intron_variant BRCA-FR 11 34235168 34235168 single base substitution G C intron_variant BRCA-FR 11 34246830 34246830 single base substitution C G intron_variant BRCA-FR 11 34247012 34247012 single base substitution G C intron_variant BRCA-FR 11 34250303 34250303 single base substitution G T intron_variant BRCA-FR 11 34257659 34257659 single base substitution G A intron_variant BRCA-FR 11 34262110 34262110 single base substitution T C intron_variant BRCA-FR 11 34268463 34268463 single base substitution C G intron_variant BRCA-FR 11 34268463 34268463 single base substitution C G upstream_gene_variant BRCA-FR 11 34271855 34271855 single base substitution G A intron_variant BRCA-FR 11 34275371 34275371 single base substitution T G intron_variant BRCA-FR 11 34281636 34281636 single base substitution A G intron_variant BRCA-FR 11 34283033 34283033 single base substitution A T intron_variant BRCA-FR 11 34287892 34287892 single base substitution G A intron_variant BRCA-FR 11 34305665 34305665 single base substitution C T intron_variant BRCA-FR 11 34307316 34307316 single base substitution C T intron_variant BRCA-FR 11 34320830 34320830 single base substitution C T intron_variant BRCA-FR 11 34321373 34321373 single base substitution G C intron_variant BRCA-FR 11 34329479 34329479 single base substitution C T intron_variant BRCA-FR 11 34338237 34338237 single base substitution A T intron_variant BRCA-FR 11 34343921 34343921 single base substitution G A intron_variant BRCA-FR 11 34344041 34344041 single base substitution G C intron_variant BRCA-FR 11 34364551 34364551 single base substitution C G intron_variant BRCA-FR 11 34368633 34368633 single base substitution G A intron_variant BRCA-FR 11 34371132 34371132 single base substitution G T intron_variant BRCA-FR 11 34379866 34379866 single base substitution G A upstream_gene_variant BRCA-FR 11 34383246 34383246 single base substitution G C upstream_gene_variant BRCA-UK 11 34174122 34174122 single base substitution C A missense_variant A778S 2332G>T BRCA-UK 11 34174122 34174122 single base substitution C A missense_variant A964S 2890G>T BRCA-UK 11 34197728 34197728 single base substitution G C intron_variant BRCA-UK 11 34223088 34223088 single base substitution G T intron_variant BRCA-UK 11 34230031 34230031 single base substitution G A intron_variant BRCA-UK 11 34236828 34236828 single base substitution G C intron_variant BRCA-UK 11 34288260 34288260 single base substitution T A intron_variant BRCA-UK 11 34300176 34300176 single base substitution T G intron_variant BRCA-UK 11 34308620 34308620 single base substitution G C intron_variant BRCA-UK 11 34333756 34333756 single base substitution G T intron_variant BRCA-UK 11 34358220 34358220 single base substitution A C intron_variant BRCA-UK 11 34368287 34368287 single base substitution G C intron_variant BRCA-US 11 34173993 34173993 single base substitution C T missense_variant D1007N 3019G>A BRCA-US 11 34173993 34173993 single base substitution C T missense_variant D821N 2461G>A BRCA-US 11 34182470 34182470 single base substitution C T missense_variant D607N 1819G>A BRCA-US 11 34182470 34182470 single base substitution C T missense_variant D793N 2377G>A BRCA-US 11 34186251 34186251 single base substitution G C stop_gained S471* 1412C>G BRCA-US 11 34186251 34186251 single base substitution G C stop_gained S657* 1970C>G BRCA-US 11 34192619 34192619 single base substitution C T downstream_gene_variant BRCA-US 11 34192619 34192619 single base substitution C T splice_acceptor_variant BRCA-US 11 34378311 34378311 single base substitution C T missense_variant D274N 820G>A BRCA-US 11 34378311 34378311 single base substitution C T missense_variant D88N 262G>A BTCA-JP 11 34186431 34186431 single base substitution G A intron_variant BTCA-JP 11 34186869 34186869 single base substitution G A missense_variant S411L 1232C>T BTCA-JP 11 34186869 34186869 single base substitution G A missense_variant S597L 1790C>T BTCA-JP 11 34192593 34192593 single base substitution G A downstream_gene_variant BTCA-JP 11 34192593 34192593 single base substitution G A missense_variant R289W 865C>T BTCA-JP 11 34192593 34192593 single base substitution G A missense_variant R475W 1423C>T CESC-US 11 34189500 34189500 single base substitution C T missense_variant E349K 1045G>A CESC-US 11 34189500 34189500 single base substitution C T missense_variant E535K 1603G>A CESC-US 11 34378318 34378318 single base substitution G C missense_variant I271M 813C>G CESC-US 11 34378318 34378318 single base substitution G C missense_variant I85M 255C>G CLLE-ES 11 34188145 34188145 single base substitution C T intron_variant CLLE-ES 11 34207458 34207458 single base substitution T A intron_variant CLLE-ES 11 34207755 34207755 single base substitution C T intron_variant CLLE-ES 11 34209160 34209160 single base substitution C T intron_variant CLLE-ES 11 34210613 34210613 single base substitution G A intron_variant CLLE-ES 11 34223673 34223673 single base substitution T C intron_variant CLLE-ES 11 34229949 34229949 single base substitution T A intron_variant CLLE-ES 11 34235798 34235798 single base substitution A C intron_variant CLLE-ES 11 34236078 34236078 single base substitution A C intron_variant CLLE-ES 11 34260391 34260391 single base substitution C A intron_variant CLLE-ES 11 34260502 34260502 single base substitution A T intron_variant CLLE-ES 11 34275238 34275238 single base substitution A T intron_variant CLLE-ES 11 34290145 34290145 single base substitution T G intron_variant CLLE-ES 11 34323316 34323316 single base substitution A G intron_variant CLLE-ES 11 34323801 34323801 single base substitution G C intron_variant CLLE-ES 11 34347416 34347416 single base substitution T C intron_variant CLLE-ES 11 34360109 34360109 single base substitution C T intron_variant COAD-US 11 34167685 34167687 deletion of <=200bp GAA - downstream_gene_variant COAD-US 11 34167703 34167703 single base substitution G T downstream_gene_variant COAD-US 11 34180876 34180876 single base substitution G A synonymous_variant I702I 2106C>T COAD-US 11 34180876 34180876 single base substitution G A synonymous_variant I888I 2664C>T COAD-US 11 34181850 34181850 single base substitution G A synonymous_variant G630G 1890C>T COAD-US 11 34181850 34181850 single base substitution G A synonymous_variant G816G 2448C>T COAD-US 11 34182513 34182515 deletion of <=200bp CTC - inframe_deletion E592 COAD-US 11 34182513 34182515 deletion of <=200bp CTC - inframe_deletion E778 COAD-US 11 34184237 34184237 single base substitution C A missense_variant G516C 1546G>T COAD-US 11 34184237 34184237 single base substitution C A missense_variant G702C 2104G>T COAD-US 11 34192470 34192470 single base substitution T C downstream_gene_variant COAD-US 11 34192470 34192470 single base substitution T C missense_variant N330D 988A>G COAD-US 11 34192470 34192470 single base substitution T C missense_variant N516D 1546A>G COAD-US 11 34378341 34378341 single base substitution C T missense_variant A264T 790G>A COAD-US 11 34378341 34378341 single base substitution C T missense_variant A78T 232G>A COCA-CN 11 34167721 34167721 single base substitution A C downstream_gene_variant COCA-CN 11 34167855 34167855 single base substitution C T downstream_gene_variant COCA-CN 11 34173966 34173966 deletion of <=200bp C - frameshift_variant V1016 COCA-CN 11 34173966 34173966 deletion of <=200bp C - frameshift_variant V830 COCA-CN 11 34175834 34175834 single base substitution A G missense_variant V767A 2300T>C COCA-CN 11 34175834 34175834 single base substitution A G missense_variant V953A 2858T>C COCA-CN 11 34185649 34185649 single base substitution T C intron_variant COCA-CN 11 34196441 34196441 single base substitution C A intron_variant COCA-CN 11 34200627 34200627 single base substitution C A intron_variant COCA-CN 11 34226209 34226209 single base substitution G A exon_variant COCA-CN 11 34226209 34226209 single base substitution G A synonymous_variant S118S 354C>T COCA-CN 11 34226209 34226209 single base substitution G A synonymous_variant S304S 912C>T COCA-CN 11 34227150 34227150 single base substitution T G intron_variant COCA-CN 11 34233346 34233346 single base substitution G T intron_variant COCA-CN 11 34249700 34249700 single base substitution A G intron_variant COCA-CN 11 34250559 34250559 single base substitution G A intron_variant COCA-CN 11 34299167 34299167 single base substitution A T intron_variant COCA-CN 11 34309719 34309719 single base substitution C A intron_variant COCA-CN 11 34310568 34310568 single base substitution C A intron_variant COCA-CN 11 34319674 34319674 single base substitution T C intron_variant COCA-CN 11 34355560 34355560 single base substitution G A intron_variant COCA-CN 11 34356868 34356868 single base substitution T C intron_variant COCA-CN 11 34359965 34359965 single base substitution C T intron_variant COCA-CN 11 34364503 34364503 single base substitution T C intron_variant COCA-CN 11 34365017 34365017 single base substitution C T intron_variant COCA-CN 11 34378518 34378518 single base substitution A C missense_variant F19V 55T>G COCA-CN 11 34378518 34378518 single base substitution A C missense_variant F205V 613T>G COCA-CN 11 34379167 34379167 single base substitution G C 5_prime_UTR_variant COCA-CN 11 34379167 34379167 single base substitution G C upstream_gene_variant COCA-CN 11 34379188 34379188 single base substitution C A 5_prime_UTR_variant COCA-CN 11 34379188 34379188 single base substitution C A upstream_gene_variant COCA-CN 11 34379220 34379220 single base substitution C T 5_prime_UTR_variant COCA-CN 11 34379220 34379220 single base substitution C T upstream_gene_variant EOPC-DE 11 34274299 34274299 single base substitution G A intron_variant EOPC-DE 11 34333666 34333666 single base substitution C T intron_variant EOPC-DE 11 34340354 34340354 single base substitution C T intron_variant EOPC-DE 11 34379566 34379566 single base substitution G C upstream_gene_variant ESAD-UK 11 34170398 34170398 single base substitution G A downstream_gene_variant ESAD-UK 11 34171097 34171097 single base substitution C G downstream_gene_variant ESAD-UK 11 34171150 34171150 deletion of <=200bp T - downstream_gene_variant ESAD-UK 11 34180379 34180379 single base substitution G A intron_variant ESAD-UK 11 34183537 34183537 single base substitution C T intron_variant ESAD-UK 11 34187642 34187642 single base substitution G T intron_variant ESAD-UK 11 34188263 34188263 single base substitution T G intron_variant ESAD-UK 11 34188391 34188391 single base substitution C G intron_variant ESAD-UK 11 34189230 34189230 single base substitution C G intron_variant ESAD-UK 11 34194336 34194336 single base substitution G A downstream_gene_variant ESAD-UK 11 34194336 34194336 single base substitution G A intron_variant ESAD-UK 11 34194373 34194373 single base substitution A G downstream_gene_variant ESAD-UK 11 34194373 34194373 single base substitution A G intron_variant ESAD-UK 11 34197423 34197423 single base substitution G A intron_variant ESAD-UK 11 34198992 34198992 deletion of <=200bp T - intron_variant ESAD-UK 11 34201416 34201416 single base substitution G A intron_variant ESAD-UK 11 34202952 34202952 single base substitution G C intron_variant ESAD-UK 11 34206761 34206761 single base substitution G A intron_variant ESAD-UK 11 34207397 34207397 single base substitution T C intron_variant ESAD-UK 11 34207988 34207988 single base substitution C T intron_variant ESAD-UK 11 34208221 34208221 deletion of <=200bp G - intron_variant ESAD-UK 11 34208337 34208337 single base substitution C T intron_variant ESAD-UK 11 34208730 34208730 single base substitution C A intron_variant ESAD-UK 11 34211052 34211052 single base substitution G T intron_variant ESAD-UK 11 34214018 34214018 single base substitution G A intron_variant ESAD-UK 11 34215047 34215047 single base substitution A G intron_variant ESAD-UK 11 34215568 34215568 single base substitution T C intron_variant ESAD-UK 11 34216748 34216748 single base substitution A T intron_variant ESAD-UK 11 34219927 34219927 single base substitution G A intron_variant ESAD-UK 11 34221856 34221856 single base substitution G C intron_variant ESAD-UK 11 34222085 34222085 single base substitution T G intron_variant ESAD-UK 11 34227150 34227150 single base substitution T G intron_variant ESAD-UK 11 34229725 34229725 single base substitution C A intron_variant ESAD-UK 11 34232265 34232265 single base substitution A C intron_variant ESAD-UK 11 34233519 34233519 single base substitution C T intron_variant ESAD-UK 11 34233788 34233788 single base substitution G A intron_variant ESAD-UK 11 34234296 34234321 deletion of <=200bp ATAACAATTATCCTCCACTTAACACT - intron_variant ESAD-UK 11 34239039 34239039 single base substitution C T intron_variant ESAD-UK 11 34239846 34239846 single base substitution G T intron_variant ESAD-UK 11 34241620 34241620 single base substitution G A intron_variant ESAD-UK 11 34241726 34241726 single base substitution G A intron_variant ESAD-UK 11 34246491 34246491 deletion of <=200bp T - intron_variant ESAD-UK 11 34252505 34252505 single base substitution G A intron_variant ESAD-UK 11 34254465 34254465 single base substitution C T intron_variant ESAD-UK 11 34255961 34255961 single base substitution G C intron_variant ESAD-UK 11 34256219 34256219 single base substitution T C intron_variant ESAD-UK 11 34256857 34256857 single base substitution C T intron_variant ESAD-UK 11 34259010 34259010 single base substitution C A intron_variant ESAD-UK 11 34259765 34259765 single base substitution G T intron_variant ESAD-UK 11 34259820 34259820 single base substitution C A intron_variant ESAD-UK 11 34260252 34260252 single base substitution G C intron_variant ESAD-UK 11 34261676 34261676 single base substitution C T intron_variant ESAD-UK 11 34262305 34262305 single base substitution A C intron_variant ESAD-UK 11 34265475 34265475 single base substitution G T intron_variant ESAD-UK 11 34265475 34265475 single base substitution G T upstream_gene_variant ESAD-UK 11 34270677 34270677 insertion of <=200bp - AAAA intron_variant ESAD-UK 11 34271263 34271263 single base substitution C A intron_variant ESAD-UK 11 34272368 34272368 single base substitution C T intron_variant ESAD-UK 11 34276572 34276572 single base substitution C T intron_variant ESAD-UK 11 34285383 34285383 single base substitution G A intron_variant ESAD-UK 11 34286388 34286388 single base substitution C T intron_variant ESAD-UK 11 34287470 34287470 single base substitution C T intron_variant ESAD-UK 11 34287714 34287714 single base substitution C T intron_variant ESAD-UK 11 34289528 34289528 single base substitution A T intron_variant ESAD-UK 11 34290007 34290007 single base substitution G A intron_variant ESAD-UK 11 34291652 34291652 single base substitution G A intron_variant ESAD-UK 11 34294651 34294651 single base substitution A T intron_variant ESAD-UK 11 34302063 34302063 single base substitution G C intron_variant ESAD-UK 11 34303616 34303616 single base substitution T A intron_variant ESAD-UK 11 34306563 34306563 single base substitution A G intron_variant ESAD-UK 11 34308304 34308304 single base substitution A C intron_variant ESAD-UK 11 34309145 34309145 single base substitution A G intron_variant ESAD-UK 11 34309380 34309380 single base substitution A G intron_variant ESAD-UK 11 34310258 34310258 single base substitution C T intron_variant ESAD-UK 11 34311930 34311930 single base substitution G A intron_variant ESAD-UK 11 34314771 34314771 deletion of <=200bp G - intron_variant ESAD-UK 11 34315398 34315398 single base substitution A T intron_variant ESAD-UK 11 34319522 34319522 single base substitution C T intron_variant ESAD-UK 11 34323610 34323610 insertion of <=200bp - A intron_variant ESAD-UK 11 34325821 34325821 single base substitution C T intron_variant ESAD-UK 11 34329094 34329094 single base substitution A C intron_variant ESAD-UK 11 34330024 34330024 single base substitution G C intron_variant ESAD-UK 11 34330640 34330640 single base substitution G A intron_variant ESAD-UK 11 34330787 34330787 single base substitution G A intron_variant ESAD-UK 11 34331764 34331764 single base substitution T C intron_variant ESAD-UK 11 34332356 34332356 single base substitution A C intron_variant ESAD-UK 11 34335069 34335069 single base substitution C G intron_variant ESAD-UK 11 34339030 34339030 single base substitution T A intron_variant ESAD-UK 11 34339438 34339438 single base substitution C A intron_variant ESAD-UK 11 34339681 34339681 single base substitution T A intron_variant ESAD-UK 11 34340138 34340138 single base substitution A C intron_variant ESAD-UK 11 34340305 34340305 single base substitution T C intron_variant ESAD-UK 11 34346919 34346919 single base substitution G A intron_variant ESAD-UK 11 34348725 34348725 single base substitution G T intron_variant ESAD-UK 11 34351330 34351330 single base substitution A C intron_variant ESAD-UK 11 34351871 34351871 single base substitution C A intron_variant ESAD-UK 11 34352670 34352670 single base substitution G A intron_variant ESAD-UK 11 34354004 34354004 single base substitution G T intron_variant ESAD-UK 11 34355031 34355031 single base substitution G A intron_variant ESAD-UK 11 34356343 34356343 single base substitution G C intron_variant ESAD-UK 11 34357108 34357108 single base substitution A G intron_variant ESAD-UK 11 34358217 34358217 deletion of <=200bp A - intron_variant ESAD-UK 11 34358273 34358273 single base substitution C T intron_variant ESAD-UK 11 34358406 34358406 single base substitution C T intron_variant ESAD-UK 11 34358572 34358572 single base substitution T C intron_variant ESAD-UK 11 34359737 34359737 single base substitution G A intron_variant ESAD-UK 11 34360322 34360322 single base substitution C A intron_variant ESAD-UK 11 34363331 34363331 single base substitution C T intron_variant ESAD-UK 11 34365157 34365157 single base substitution G T intron_variant ESAD-UK 11 34372322 34372322 single base substitution C T intron_variant ESAD-UK 11 34372593 34372593 single base substitution G A intron_variant ESAD-UK 11 34373049 34373049 single base substitution G T intron_variant ESAD-UK 11 34375716 34375716 single base substitution G A intron_variant ESAD-UK 11 34377430 34377430 single base substitution A G intron_variant ESAD-UK 11 34379270 34379270 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 11 34379270 34379270 single base substitution T A upstream_gene_variant ESAD-UK 11 34382263 34382263 insertion of <=200bp - CTGGTAAT upstream_gene_variant ESAD-UK 11 34382705 34382705 single base substitution A T upstream_gene_variant ESCA-CN 11 34218998 34218998 single base substitution G A exon_variant ESCA-CN 11 34218998 34218998 single base substitution G A missense_variant P187L 560C>T ESCA-CN 11 34218998 34218998 single base substitution G A missense_variant P373L 1118C>T KIRC-US 11 34174107 34174107 single base substitution G T missense_variant L783M 2347C>A KIRC-US 11 34174107 34174107 single base substitution G T missense_variant L969M 2905C>A KIRC-US 11 34175904 34175904 single base substitution A T missense_variant F744I 2230T>A KIRC-US 11 34175904 34175904 single base substitution A T missense_variant F930I 2788T>A KIRC-US 11 34186251 34186251 single base substitution G A missense_variant S471L 1412C>T KIRC-US 11 34186251 34186251 single base substitution G A missense_variant S657L 1970C>T KIRC-US 11 34378374 34378374 single base substitution C A missense_variant D253Y 757G>T KIRC-US 11 34378374 34378374 single base substitution C A missense_variant D67Y 199G>T KIRP-US 11 34219046 34219046 single base substitution C T exon_variant KIRP-US 11 34219046 34219046 single base substitution C T missense_variant R171H 512G>A KIRP-US 11 34219046 34219046 single base substitution C T missense_variant R357H 1070G>A LAML-KR 11 34247488 34247488 single base substitution C T intron_variant LAML-KR 11 34249977 34249977 single base substitution G A intron_variant LAML-KR 11 34378218 34378218 single base substitution A C intron_variant LGG-US 11 34176285 34176285 single base substitution G A missense_variant T724I 2171C>T LGG-US 11 34176285 34176285 single base substitution G A missense_variant T910I 2729C>T LGG-US 11 34182569 34182569 single base substitution G A missense_variant R574W 1720C>T LGG-US 11 34182569 34182569 single base substitution G A missense_variant R760W 2278C>T LGG-US 11 34184211 34184211 single base substitution G A synonymous_variant S524S 1572C>T LGG-US 11 34184211 34184211 single base substitution G A synonymous_variant S710S 2130C>T LICA-CN 11 34194783 34194783 single base substitution C T exon_variant LICA-CN 11 34194783 34194783 single base substitution C T missense_variant S253N 758G>A LICA-CN 11 34194783 34194783 single base substitution C T missense_variant S439N 1316G>A LICA-FR 11 34174115 34174115 single base substitution T C missense_variant E780G 2339A>G LICA-FR 11 34174115 34174115 single base substitution T C missense_variant E966G 2897A>G LICA-FR 11 34175996 34175996 insertion of <=200bp - AGCGG intron_variant LICA-FR 11 34181491 34181491 single base substitution A G synonymous_variant F670F 2010T>C LICA-FR 11 34181491 34181491 single base substitution A G synonymous_variant F856F 2568T>C LICA-FR 11 34192452 34192452 single base substitution C A downstream_gene_variant LICA-FR 11 34192452 34192452 single base substitution C A splice_donor_variant LICA-FR 11 34212573 34212573 single base substitution C G intron_variant LICA-FR 11 34227331 34227427 deletion of <=200bp TTGGAGCAGAATGTTGGGGTTCGTAATTCTGGCTGTCACGTAACCAGTGGTGTGATCTTGGTCAGGTTACTTAGACTCTACATCAGTTCATCATCTG - intron_variant LICA-FR 11 34235014 34235014 single base substitution C T intron_variant LICA-FR 11 34242531 34242531 single base substitution C T intron_variant LICA-FR 11 34249652 34249652 single base substitution A G intron_variant LICA-FR 11 34251346 34251346 single base substitution T C intron_variant LICA-FR 11 34274700 34274700 single base substitution T C intron_variant LICA-FR 11 34282467 34282467 insertion of <=200bp - GAGGCCAGGAGCTC intron_variant LICA-FR 11 34323044 34323044 single base substitution G C intron_variant LICA-FR 11 34330416 34330423 deletion of <=200bp AAAAAAAA - intron_variant LICA-FR 11 34340523 34340523 single base substitution G A intron_variant LICA-FR 11 34360090 34360090 insertion of <=200bp - A intron_variant LIHC-US 11 34189528 34189528 single base substitution T G synonymous_variant P339P 1017A>C LIHC-US 11 34189528 34189528 single base substitution T G synonymous_variant P525P 1575A>C LINC-JP 11 34173943 34173943 single base substitution G T synonymous_variant S1023S 3069C>A LINC-JP 11 34173943 34173943 single base substitution G T synonymous_variant S837S 2511C>A LINC-JP 11 34181348 34181348 single base substitution A C intron_variant LINC-JP 11 34184709 34184709 single base substitution T C intron_variant LINC-JP 11 34186833 34186833 single base substitution G A missense_variant T423M 1268C>T LINC-JP 11 34186833 34186833 single base substitution G A missense_variant T609M 1826C>T LINC-JP 11 34189378 34189378 single base substitution G A intron_variant LINC-JP 11 34189779 34189779 single base substitution C T downstream_gene_variant LINC-JP 11 34189779 34189779 single base substitution C T intron_variant LINC-JP 11 34204725 34204725 single base substitution G A intron_variant LINC-JP 11 34216324 34216324 deletion of <=200bp T - intron_variant LINC-JP 11 34217882 34217882 single base substitution C T intron_variant LINC-JP 11 34226875 34226875 single base substitution T A intron_variant LINC-JP 11 34227162 34227162 single base substitution T C intron_variant LINC-JP 11 34275238 34275238 single base substitution A T intron_variant LINC-JP 11 34297317 34297317 single base substitution T C intron_variant LINC-JP 11 34310087 34310102 deletion of <=200bp CAGAACAGACAGAGCC - intron_variant LINC-JP 11 34324868 34324868 single base substitution G T intron_variant LINC-JP 11 34342012 34342012 single base substitution C A intron_variant LINC-JP 11 34345192 34345192 single base substitution T G intron_variant LINC-JP 11 34345203 34345203 single base substitution T G intron_variant LINC-JP 11 34350232 34350232 insertion of <=200bp - T intron_variant LINC-JP 11 34363379 34363379 single base substitution C T intron_variant LINC-JP 11 34370128 34370128 single base substitution A C intron_variant LINC-JP 11 34376609 34376609 single base substitution G A intron_variant LINC-JP 11 34378499 34378499 deletion of <=200bp A - frameshift_variant F211 LINC-JP 11 34378499 34378499 deletion of <=200bp A - frameshift_variant F25 LINC-JP 11 34379079 34379079 insertion of <=200bp - CTTG frameshift_variant D18AR? LINC-JP 11 34379079 34379079 insertion of <=200bp - CTTG upstream_gene_variant LINC-JP 11 34380784 34380784 single base substitution C T upstream_gene_variant LIRI-JP 11 34170145 34170145 single base substitution C G downstream_gene_variant LIRI-JP 11 34170688 34170688 single base substitution T A downstream_gene_variant LIRI-JP 11 34170930 34170930 single base substitution C A downstream_gene_variant LIRI-JP 11 34171562 34171562 single base substitution C T downstream_gene_variant LIRI-JP 11 34179617 34179617 single base substitution A C intron_variant LIRI-JP 11 34179753 34179753 single base substitution A T intron_variant LIRI-JP 11 34181444 34181444 single base substitution G T intron_variant LIRI-JP 11 34186810 34186810 single base substitution C T missense_variant A431T 1291G>A LIRI-JP 11 34186810 34186810 single base substitution C T missense_variant A617T 1849G>A LIRI-JP 11 34186825 34186825 single base substitution G A stop_gained Q426* 1276C>T LIRI-JP 11 34186825 34186825 single base substitution G A stop_gained Q612* 1834C>T LIRI-JP 11 34187098 34187098 single base substitution A G intron_variant LIRI-JP 11 34188254 34188254 single base substitution G A intron_variant LIRI-JP 11 34188255 34188255 single base substitution C A intron_variant LIRI-JP 11 34189518 34189518 single base substitution C T missense_variant A343T 1027G>A LIRI-JP 11 34189518 34189518 single base substitution C T missense_variant A529T 1585G>A LIRI-JP 11 34190886 34190886 single base substitution A G downstream_gene_variant LIRI-JP 11 34190886 34190886 single base substitution A G intron_variant LIRI-JP 11 34191918 34191918 single base substitution C T downstream_gene_variant LIRI-JP 11 34191918 34191918 single base substitution C T intron_variant LIRI-JP 11 34192544 34192544 single base substitution C T downstream_gene_variant LIRI-JP 11 34192544 34192544 single base substitution C T missense_variant G305D 914G>A LIRI-JP 11 34192544 34192544 single base substitution C T missense_variant G491D 1472G>A LIRI-JP 11 34193657 34193657 single base substitution C T downstream_gene_variant LIRI-JP 11 34193657 34193657 single base substitution C T intron_variant LIRI-JP 11 34194239 34194239 single base substitution C T downstream_gene_variant LIRI-JP 11 34194239 34194239 single base substitution C T intron_variant LIRI-JP 11 34195604 34195604 single base substitution G A intron_variant LIRI-JP 11 34198242 34198242 single base substitution A G intron_variant LIRI-JP 11 34198761 34198761 single base substitution G A intron_variant LIRI-JP 11 34199247 34199247 single base substitution T G intron_variant LIRI-JP 11 34199494 34199494 single base substitution C G intron_variant LIRI-JP 11 34202046 34202046 single base substitution C A intron_variant LIRI-JP 11 34202638 34202638 single base substitution G C intron_variant LIRI-JP 11 34202878 34202878 single base substitution T A intron_variant LIRI-JP 11 34204549 34204549 single base substitution A C intron_variant LIRI-JP 11 34204855 34204855 single base substitution C A intron_variant LIRI-JP 11 34207445 34207445 single base substitution T C intron_variant LIRI-JP 11 34212648 34212648 single base substitution C T intron_variant LIRI-JP 11 34214069 34214069 single base substitution G T intron_variant LIRI-JP 11 34216219 34216219 single base substitution C T intron_variant LIRI-JP 11 34218176 34218176 single base substitution G C intron_variant LIRI-JP 11 34221477 34221477 single base substitution T C intron_variant LIRI-JP 11 34221877 34221877 single base substitution T C intron_variant LIRI-JP 11 34223888 34223888 single base substitution G A intron_variant LIRI-JP 11 34224514 34224514 single base substitution T A intron_variant LIRI-JP 11 34225344 34225344 single base substitution C A intron_variant LIRI-JP 11 34225409 34225409 single base substitution T C intron_variant LIRI-JP 11 34227845 34227845 single base substitution G A intron_variant LIRI-JP 11 34230381 34230381 single base substitution A G intron_variant LIRI-JP 11 34231688 34231688 single base substitution C A intron_variant LIRI-JP 11 34232484 34232484 single base substitution T C intron_variant LIRI-JP 11 34235006 34235006 single base substitution C A intron_variant LIRI-JP 11 34235897 34235897 single base substitution G T intron_variant LIRI-JP 11 34238105 34238105 single base substitution C A intron_variant LIRI-JP 11 34241099 34241099 single base substitution A G intron_variant LIRI-JP 11 34245113 34245113 single base substitution C T intron_variant LIRI-JP 11 34246741 34246741 single base substitution G C intron_variant LIRI-JP 11 34249018 34249018 single base substitution T C intron_variant LIRI-JP 11 34251216 34251216 single base substitution T C intron_variant LIRI-JP 11 34256425 34256425 single base substitution G A intron_variant LIRI-JP 11 34256545 34256545 single base substitution T C intron_variant LIRI-JP 11 34258095 34258095 single base substitution G A intron_variant LIRI-JP 11 34258331 34258331 single base substitution C T intron_variant LIRI-JP 11 34258667 34258667 single base substitution T C intron_variant LIRI-JP 11 34258995 34258995 single base substitution T C intron_variant LIRI-JP 11 34260462 34260462 single base substitution G A intron_variant LIRI-JP 11 34261169 34261169 single base substitution C G intron_variant LIRI-JP 11 34263023 34263023 single base substitution T G intron_variant LIRI-JP 11 34264829 34264829 single base substitution T C intron_variant LIRI-JP 11 34264829 34264829 single base substitution T C upstream_gene_variant LIRI-JP 11 34271423 34271423 single base substitution C T intron_variant LIRI-JP 11 34272831 34272831 single base substitution T C intron_variant LIRI-JP 11 34273095 34273095 single base substitution C T intron_variant LIRI-JP 11 34273274 34273274 single base substitution T G intron_variant LIRI-JP 11 34274548 34274548 single base substitution C G intron_variant LIRI-JP 11 34275150 34275150 single base substitution G A intron_variant LIRI-JP 11 34279002 34279002 single base substitution T C intron_variant LIRI-JP 11 34283726 34283726 single base substitution A T intron_variant LIRI-JP 11 34286409 34286409 single base substitution G C intron_variant LIRI-JP 11 34293338 34293338 single base substitution T C intron_variant LIRI-JP 11 34296143 34296146 deletion of <=200bp TATA - intron_variant LIRI-JP 11 34296583 34296592 deletion of <=200bp CCAGGCTGGC - intron_variant LIRI-JP 11 34297396 34297396 single base substitution T C intron_variant LIRI-JP 11 34298500 34298500 single base substitution G C intron_variant LIRI-JP 11 34300231 34300231 single base substitution G A intron_variant LIRI-JP 11 34305597 34305597 single base substitution C T intron_variant LIRI-JP 11 34306085 34306085 single base substitution T C intron_variant LIRI-JP 11 34307903 34307903 single base substitution G A intron_variant LIRI-JP 11 34309486 34309486 single base substitution A C intron_variant LIRI-JP 11 34311105 34311105 single base substitution T G intron_variant LIRI-JP 11 34312545 34312545 single base substitution T C intron_variant LIRI-JP 11 34315311 34315311 single base substitution G A intron_variant LIRI-JP 11 34315510 34315510 single base substitution G T intron_variant LIRI-JP 11 34315698 34315698 single base substitution G T intron_variant LIRI-JP 11 34316187 34316187 single base substitution T A intron_variant LIRI-JP 11 34316973 34316973 single base substitution A C intron_variant LIRI-JP 11 34320544 34320544 single base substitution G A intron_variant LIRI-JP 11 34323518 34323518 single base substitution A C intron_variant LIRI-JP 11 34325135 34325138 deletion of <=200bp AATA - intron_variant LIRI-JP 11 34325497 34325497 single base substitution T C intron_variant LIRI-JP 11 34338008 34338008 single base substitution T C intron_variant LIRI-JP 11 34338765 34338765 single base substitution T C intron_variant LIRI-JP 11 34339130 34339130 single base substitution G C intron_variant LIRI-JP 11 34340396 34340396 single base substitution C A intron_variant LIRI-JP 11 34340653 34340653 single base substitution G T intron_variant LIRI-JP 11 34341986 34341986 single base substitution G T intron_variant LIRI-JP 11 34342044 34342044 single base substitution G A intron_variant LIRI-JP 11 34342876 34342876 single base substitution T C intron_variant LIRI-JP 11 34343055 34343055 single base substitution T A intron_variant LIRI-JP 11 34343199 34343199 single base substitution T C intron_variant LIRI-JP 11 34344412 34344412 single base substitution G A intron_variant LIRI-JP 11 34346650 34346650 single base substitution T C intron_variant LIRI-JP 11 34346745 34346745 single base substitution T A intron_variant LIRI-JP 11 34346745 34346745 single base substitution T C intron_variant LIRI-JP 11 34347375 34347375 single base substitution G A intron_variant LIRI-JP 11 34349449 34349449 single base substitution T C intron_variant LIRI-JP 11 34350257 34350257 single base substitution T C intron_variant LIRI-JP 11 34350511 34350511 single base substitution T C intron_variant LIRI-JP 11 34353623 34353623 single base substitution T C intron_variant LIRI-JP 11 34354802 34354802 single base substitution A G intron_variant LIRI-JP 11 34356016 34356016 single base substitution C T intron_variant LIRI-JP 11 34356331 34356331 single base substitution G A intron_variant LIRI-JP 11 34356335 34356335 single base substitution C A intron_variant LIRI-JP 11 34356370 34356370 single base substitution A G intron_variant LIRI-JP 11 34357802 34357802 single base substitution T C intron_variant LIRI-JP 11 34363473 34363473 single base substitution A C intron_variant LIRI-JP 11 34363573 34363573 single base substitution T C intron_variant LIRI-JP 11 34364025 34364025 single base substitution G A intron_variant LIRI-JP 11 34366729 34366729 single base substitution A G intron_variant LIRI-JP 11 34369513 34369513 single base substitution T A intron_variant LIRI-JP 11 34370525 34370525 single base substitution G A intron_variant LIRI-JP 11 34371160 34371160 single base substitution G A intron_variant LIRI-JP 11 34371567 34371567 single base substitution G A intron_variant LIRI-JP 11 34373157 34373158 deletion of <=200bp AT - intron_variant LIRI-JP 11 34375613 34375614 deletion of <=200bp AA - intron_variant LIRI-JP 11 34376829 34376829 insertion of <=200bp - A intron_variant LIRI-JP 11 34377807 34377807 single base substitution C G intron_variant LIRI-JP 11 34383755 34383755 single base substitution T G upstream_gene_variant LUSC-KR 11 34173802 34173802 single base substitution G C 3_prime_UTR_variant LUSC-KR 11 34177916 34177916 single base substitution G T intron_variant LUSC-KR 11 34179643 34179643 single base substitution A T intron_variant LUSC-KR 11 34184318 34184318 single base substitution G T missense_variant Q489K 1465C>A LUSC-KR 11 34184318 34184318 single base substitution G T missense_variant Q675K 2023C>A LUSC-KR 11 34191508 34191508 single base substitution C T downstream_gene_variant LUSC-KR 11 34191508 34191508 single base substitution C T intron_variant LUSC-KR 11 34191675 34191675 single base substitution C A downstream_gene_variant LUSC-KR 11 34191675 34191675 single base substitution C A intron_variant LUSC-KR 11 34198064 34198064 single base substitution C A intron_variant LUSC-KR 11 34198604 34198604 single base substitution T A intron_variant LUSC-KR 11 34199684 34199684 single base substitution G C intron_variant LUSC-KR 11 34201769 34201769 single base substitution A G intron_variant LUSC-KR 11 34203138 34203138 single base substitution C A intron_variant LUSC-KR 11 34204835 34204835 single base substitution C T intron_variant LUSC-KR 11 34206797 34206797 single base substitution C T intron_variant LUSC-KR 11 34224933 34224933 single base substitution G C intron_variant LUSC-KR 11 34237890 34237890 single base substitution C T intron_variant LUSC-KR 11 34239023 34239023 single base substitution T C intron_variant LUSC-KR 11 34239684 34239684 single base substitution T G intron_variant LUSC-KR 11 34240650 34240650 single base substitution G C intron_variant LUSC-KR 11 34241915 34241915 single base substitution C T intron_variant LUSC-KR 11 34243076 34243076 single base substitution G C intron_variant LUSC-KR 11 34249299 34249299 single base substitution G C intron_variant LUSC-KR 11 34250093 34250093 single base substitution A T intron_variant LUSC-KR 11 34255248 34255248 single base substitution A G intron_variant LUSC-KR 11 34260685 34260685 single base substitution G A intron_variant LUSC-KR 11 34267007 34267007 single base substitution T A intron_variant LUSC-KR 11 34267007 34267007 single base substitution T A upstream_gene_variant LUSC-KR 11 34267942 34267942 single base substitution A G intron_variant LUSC-KR 11 34267942 34267942 single base substitution A G upstream_gene_variant LUSC-KR 11 34268388 34268388 single base substitution T A intron_variant LUSC-KR 11 34268388 34268388 single base substitution T A upstream_gene_variant LUSC-KR 11 34271609 34271609 single base substitution G C intron_variant LUSC-KR 11 34275763 34275763 single base substitution G A intron_variant LUSC-KR 11 34296025 34296025 single base substitution G T intron_variant LUSC-KR 11 34296164 34296164 single base substitution T A intron_variant LUSC-KR 11 34301366 34301366 single base substitution G T intron_variant LUSC-KR 11 34304913 34304913 single base substitution C A intron_variant LUSC-KR 11 34317323 34317323 single base substitution G A intron_variant LUSC-KR 11 34320906 34320906 single base substitution T A intron_variant LUSC-KR 11 34321948 34321948 single base substitution G C intron_variant LUSC-KR 11 34327464 34327464 single base substitution C A intron_variant LUSC-KR 11 34330310 34330310 single base substitution C G intron_variant LUSC-KR 11 34331934 34331934 single base substitution C A intron_variant LUSC-KR 11 34333254 34333254 single base substitution T C intron_variant LUSC-KR 11 34336315 34336315 single base substitution C A intron_variant LUSC-KR 11 34342797 34342797 single base substitution A G intron_variant LUSC-KR 11 34348100 34348100 single base substitution C T intron_variant LUSC-KR 11 34348944 34348944 single base substitution C T intron_variant LUSC-KR 11 34348960 34348960 single base substitution G T intron_variant LUSC-KR 11 34349452 34349452 single base substitution C T intron_variant LUSC-KR 11 34349594 34349594 single base substitution C T intron_variant LUSC-KR 11 34349676 34349676 single base substitution C G intron_variant LUSC-KR 11 34350080 34350080 single base substitution C G intron_variant LUSC-KR 11 34350243 34350243 single base substitution C G intron_variant LUSC-KR 11 34355922 34355922 single base substitution C A intron_variant LUSC-KR 11 34357284 34357284 single base substitution T A intron_variant LUSC-KR 11 34359552 34359552 single base substitution G A intron_variant LUSC-KR 11 34376036 34376036 single base substitution T A intron_variant LUSC-KR 11 34377842 34377842 single base substitution G A intron_variant LUSC-KR 11 34379799 34379799 single base substitution T G upstream_gene_variant LUSC-KR 11 34382931 34382931 single base substitution G T upstream_gene_variant LUSC-US 11 34180853 34180853 single base substitution T C missense_variant H710R 2129A>G LUSC-US 11 34180853 34180853 single base substitution T C missense_variant H896R 2687A>G LUSC-US 11 34226167 34226167 single base substitution A C exon_variant LUSC-US 11 34226167 34226167 single base substitution A C missense_variant D132E 396T>G LUSC-US 11 34226167 34226167 single base substitution A C missense_variant D318E 954T>G LUSC-US 11 34378571 34378571 single base substitution A T missense_variant M187K 560T>A LUSC-US 11 34378571 34378571 single base substitution A T start_lost M1K 2T>A MALY-DE 11 34172784 34172784 single base substitution G A 3_prime_UTR_variant MALY-DE 11 34184941 34184941 single base substitution C T intron_variant MALY-DE 11 34185531 34185531 single base substitution T G intron_variant MALY-DE 11 34186620 34186620 single base substitution T C intron_variant MALY-DE 11 34188529 34188530 deletion of <=200bp GA - intron_variant MALY-DE 11 34198444 34198444 single base substitution T C intron_variant MALY-DE 11 34203303 34203303 single base substitution C T intron_variant MALY-DE 11 34206175 34206175 single base substitution C T intron_variant MALY-DE 11 34210589 34210589 single base substitution G T intron_variant MALY-DE 11 34221219 34221219 single base substitution C T intron_variant MALY-DE 11 34223013 34223013 single base substitution T G intron_variant MALY-DE 11 34225794 34225794 single base substitution G C intron_variant MALY-DE 11 34226473 34226473 single base substitution C T intron_variant MALY-DE 11 34244426 34244426 single base substitution G A intron_variant MALY-DE 11 34252877 34252877 single base substitution C A intron_variant MALY-DE 11 34254714 34254714 single base substitution T A intron_variant MALY-DE 11 34257240 34257240 single base substitution C A intron_variant MALY-DE 11 34257429 34257429 single base substitution T A intron_variant MALY-DE 11 34262833 34262833 insertion of <=200bp - G intron_variant MALY-DE 11 34264444 34264444 single base substitution T G intron_variant MALY-DE 11 34264444 34264444 single base substitution T G upstream_gene_variant MALY-DE 11 34265501 34265501 single base substitution C G intron_variant MALY-DE 11 34265501 34265501 single base substitution C G upstream_gene_variant MALY-DE 11 34267008 34267008 single base substitution G A intron_variant MALY-DE 11 34267008 34267008 single base substitution G A upstream_gene_variant MALY-DE 11 34269496 34269496 single base substitution T C intron_variant MALY-DE 11 34279862 34279862 deletion of <=200bp T - intron_variant MALY-DE 11 34281972 34281972 single base substitution A T intron_variant MALY-DE 11 34282673 34282673 single base substitution G A intron_variant MALY-DE 11 34299027 34299027 insertion of <=200bp - A intron_variant MALY-DE 11 34309467 34309467 single base substitution C T intron_variant MALY-DE 11 34322272 34322272 single base substitution G A intron_variant MALY-DE 11 34322483 34322483 deletion of <=200bp G - intron_variant MALY-DE 11 34352536 34352536 single base substitution C T intron_variant MALY-DE 11 34358994 34358994 deletion of <=200bp A - intron_variant MALY-DE 11 34359239 34359239 single base substitution A T intron_variant MALY-DE 11 34377681 34377681 single base substitution T C intron_variant MALY-DE 11 34379246 34379246 single base substitution G A 5_prime_UTR_variant MALY-DE 11 34379246 34379246 single base substitution G A upstream_gene_variant MALY-DE 11 34379251 34379251 single base substitution G A 5_prime_UTR_variant MALY-DE 11 34379251 34379251 single base substitution G A upstream_gene_variant MALY-DE 11 34383450 34383450 single base substitution T C upstream_gene_variant MALY-DE 11 34383809 34383809 insertion of <=200bp - TTAA upstream_gene_variant MELA-AU 11 34168426 34168426 single base substitution C T downstream_gene_variant MELA-AU 11 34171989 34171989 single base substitution C G downstream_gene_variant MELA-AU 11 34172192 34172192 single base substitution C T downstream_gene_variant MELA-AU 11 34173326 34173326 single base substitution C T 3_prime_UTR_variant MELA-AU 11 34173707 34173707 single base substitution G A 3_prime_UTR_variant MELA-AU 11 34173985 34173985 single base substitution C T synonymous_variant Q1009Q 3027G>A MELA-AU 11 34173985 34173985 single base substitution C T synonymous_variant Q823Q 2469G>A MELA-AU 11 34174311 34174311 single base substitution C T intron_variant MELA-AU 11 34174415 34174416 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 34174469 34174469 single base substitution G A intron_variant MELA-AU 11 34174811 34174811 single base substitution C T intron_variant MELA-AU 11 34175485 34175485 single base substitution G C intron_variant MELA-AU 11 34176049 34176049 single base substitution C T intron_variant MELA-AU 11 34176291 34176291 single base substitution C T missense_variant G722E 2165G>A MELA-AU 11 34176291 34176291 single base substitution C T missense_variant G908E 2723G>A MELA-AU 11 34176419 34176419 single base substitution G T intron_variant MELA-AU 11 34177157 34177157 single base substitution C T intron_variant MELA-AU 11 34177540 34177540 single base substitution G A intron_variant MELA-AU 11 34177596 34177596 single base substitution G A intron_variant MELA-AU 11 34177835 34177835 single base substitution G A intron_variant MELA-AU 11 34178560 34178560 single base substitution C T intron_variant MELA-AU 11 34180961 34180961 single base substitution G A intron_variant MELA-AU 11 34181535 34181535 single base substitution T C missense_variant K656E 1966A>G MELA-AU 11 34181535 34181535 single base substitution T C missense_variant K842E 2524A>G MELA-AU 11 34181995 34181996 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 34183127 34183127 single base substitution G A intron_variant MELA-AU 11 34183485 34183485 single base substitution G A intron_variant MELA-AU 11 34183971 34183971 single base substitution C T intron_variant MELA-AU 11 34184036 34184036 single base substitution C T intron_variant MELA-AU 11 34184450 34184450 single base substitution C T intron_variant MELA-AU 11 34184964 34184964 single base substitution C T intron_variant MELA-AU 11 34185181 34185181 single base substitution C A intron_variant MELA-AU 11 34186050 34186050 single base substitution C T intron_variant MELA-AU 11 34186101 34186101 single base substitution T G intron_variant MELA-AU 11 34186473 34186473 single base substitution G A intron_variant MELA-AU 11 34187406 34187406 single base substitution C T intron_variant MELA-AU 11 34187485 34187486 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 34187628 34187628 single base substitution A G intron_variant MELA-AU 11 34188123 34188123 single base substitution C T intron_variant MELA-AU 11 34188288 34188288 single base substitution C T intron_variant MELA-AU 11 34188510 34188511 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 34188696 34188696 single base substitution G A intron_variant MELA-AU 11 34188907 34188908 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant V366I 1096G>A MELA-AU 11 34188907 34188908 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant V552I 1654G>A MELA-AU 11 34189057 34189057 single base substitution A G intron_variant MELA-AU 11 34189521 34189521 single base substitution A T missense_variant Y342N 1024T>A MELA-AU 11 34189521 34189521 single base substitution A T missense_variant Y528N 1582T>A MELA-AU 11 34189565 34189565 single base substitution A T intron_variant MELA-AU 11 34189567 34189567 single base substitution C A intron_variant MELA-AU 11 34189794 34189794 single base substitution G C downstream_gene_variant MELA-AU 11 34189794 34189794 single base substitution G C intron_variant MELA-AU 11 34190152 34190152 single base substitution G A downstream_gene_variant MELA-AU 11 34190152 34190152 single base substitution G A intron_variant MELA-AU 11 34191020 34191020 single base substitution G A downstream_gene_variant MELA-AU 11 34191020 34191020 single base substitution G A intron_variant MELA-AU 11 34191455 34191456 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 11 34191455 34191456 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 34191958 34191958 single base substitution C T downstream_gene_variant MELA-AU 11 34191958 34191958 single base substitution C T intron_variant MELA-AU 11 34192312 34192312 single base substitution G A downstream_gene_variant MELA-AU 11 34192312 34192312 single base substitution G A intron_variant MELA-AU 11 34192720 34192720 single base substitution G A downstream_gene_variant MELA-AU 11 34192720 34192720 single base substitution G A intron_variant MELA-AU 11 34193225 34193226 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 11 34193225 34193226 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 34193228 34193228 single base substitution C T downstream_gene_variant MELA-AU 11 34193228 34193228 single base substitution C T intron_variant MELA-AU 11 34193981 34193981 single base substitution G A downstream_gene_variant MELA-AU 11 34193981 34193981 single base substitution G A intron_variant MELA-AU 11 34194153 34194153 single base substitution G A downstream_gene_variant MELA-AU 11 34194153 34194153 single base substitution G A intron_variant MELA-AU 11 34194364 34194364 single base substitution G A downstream_gene_variant MELA-AU 11 34194364 34194364 single base substitution G A intron_variant MELA-AU 11 34195228 34195228 single base substitution G A intron_variant MELA-AU 11 34195567 34195567 single base substitution C T intron_variant MELA-AU 11 34195940 34195940 single base substitution G A intron_variant MELA-AU 11 34196082 34196082 single base substitution G A intron_variant MELA-AU 11 34196194 34196194 single base substitution G A intron_variant MELA-AU 11 34197104 34197104 insertion of <=200bp - T intron_variant MELA-AU 11 34199535 34199535 single base substitution G A intron_variant MELA-AU 11 34199830 34199830 single base substitution G A intron_variant MELA-AU 11 34199887 34199887 single base substitution C T intron_variant MELA-AU 11 34200415 34200415 single base substitution G A intron_variant MELA-AU 11 34201464 34201464 single base substitution G A intron_variant MELA-AU 11 34202371 34202371 single base substitution G A intron_variant MELA-AU 11 34202752 34202752 single base substitution G A intron_variant MELA-AU 11 34203163 34203163 single base substitution G A intron_variant MELA-AU 11 34203355 34203355 single base substitution G A intron_variant MELA-AU 11 34204133 34204133 single base substitution G A intron_variant MELA-AU 11 34204181 34204181 single base substitution C T intron_variant MELA-AU 11 34204484 34204484 single base substitution G A intron_variant MELA-AU 11 34204659 34204659 single base substitution T C intron_variant MELA-AU 11 34205372 34205372 single base substitution C T intron_variant MELA-AU 11 34205483 34205483 single base substitution G A intron_variant MELA-AU 11 34206590 34206590 single base substitution G A intron_variant MELA-AU 11 34207216 34207216 single base substitution G A intron_variant MELA-AU 11 34207218 34207218 single base substitution A T intron_variant MELA-AU 11 34208202 34208202 single base substitution C T intron_variant MELA-AU 11 34208267 34208267 single base substitution T A intron_variant MELA-AU 11 34208268 34208268 single base substitution C T intron_variant MELA-AU 11 34208501 34208501 single base substitution G A intron_variant MELA-AU 11 34208553 34208553 single base substitution G A intron_variant MELA-AU 11 34209204 34209204 single base substitution C A intron_variant MELA-AU 11 34209400 34209400 single base substitution G A intron_variant MELA-AU 11 34209742 34209742 single base substitution G A intron_variant MELA-AU 11 34210062 34210062 single base substitution G A intron_variant MELA-AU 11 34210088 34210088 single base substitution G A intron_variant MELA-AU 11 34210106 34210106 single base substitution A C intron_variant MELA-AU 11 34210156 34210156 single base substitution G A intron_variant MELA-AU 11 34210234 34210234 single base substitution A C intron_variant MELA-AU 11 34211690 34211690 single base substitution G A intron_variant MELA-AU 11 34212576 34212576 single base substitution G A intron_variant MELA-AU 11 34212983 34212983 single base substitution G A intron_variant MELA-AU 11 34213364 34213364 single base substitution C T intron_variant MELA-AU 11 34213656 34213656 single base substitution G A intron_variant MELA-AU 11 34214015 34214015 single base substitution G A intron_variant MELA-AU 11 34214134 34214134 single base substitution C T intron_variant MELA-AU 11 34215510 34215510 single base substitution G A intron_variant MELA-AU 11 34215897 34215897 single base substitution T A intron_variant MELA-AU 11 34216198 34216198 single base substitution G C intron_variant MELA-AU 11 34217553 34217553 single base substitution C T intron_variant MELA-AU 11 34218126 34218126 single base substitution C T intron_variant MELA-AU 11 34218294 34218295 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 34218351 34218351 single base substitution C T intron_variant MELA-AU 11 34218537 34218537 deletion of <=200bp T - intron_variant MELA-AU 11 34218768 34218768 single base substitution C T intron_variant MELA-AU 11 34219366 34219366 single base substitution C T intron_variant MELA-AU 11 34220430 34220430 single base substitution C T intron_variant MELA-AU 11 34221018 34221018 single base substitution G A intron_variant MELA-AU 11 34221456 34221457 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 34221522 34221522 single base substitution G A intron_variant MELA-AU 11 34221852 34221853 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 34221888 34221888 single base substitution T C intron_variant MELA-AU 11 34222165 34222165 single base substitution C T intron_variant MELA-AU 11 34222799 34222799 single base substitution G A intron_variant MELA-AU 11 34222944 34222944 single base substitution G A intron_variant MELA-AU 11 34223844 34223845 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 34223934 34223935 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 34225552 34225553 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 34225861 34225861 single base substitution G A intron_variant MELA-AU 11 34226038 34226038 single base substitution C T intron_variant MELA-AU 11 34226238 34226238 single base substitution C T splice_acceptor_variant MELA-AU 11 34226926 34226926 single base substitution C T intron_variant MELA-AU 11 34227824 34227824 single base substitution G A intron_variant MELA-AU 11 34227996 34227996 single base substitution G A intron_variant MELA-AU 11 34228251 34228251 single base substitution G A intron_variant MELA-AU 11 34228832 34228832 single base substitution C T intron_variant MELA-AU 11 34229249 34229249 single base substitution C T intron_variant MELA-AU 11 34229846 34229847 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 11 34231695 34231695 single base substitution G A intron_variant MELA-AU 11 34232276 34232276 single base substitution C T intron_variant MELA-AU 11 34232423 34232423 single base substitution G A intron_variant MELA-AU 11 34233071 34233071 single base substitution G A intron_variant MELA-AU 11 34233520 34233520 single base substitution G A intron_variant MELA-AU 11 34234525 34234525 single base substitution C T intron_variant MELA-AU 11 34234717 34234717 single base substitution G A intron_variant MELA-AU 11 34235392 34235392 single base substitution A G intron_variant MELA-AU 11 34236851 34236852 multiple base substitution (>=2bp and <=200bp) TC GT intron_variant MELA-AU 11 34237057 34237057 single base substitution C A intron_variant MELA-AU 11 34237675 34237675 single base substitution G A intron_variant MELA-AU 11 34237853 34237854 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 34238057 34238057 single base substitution G A intron_variant MELA-AU 11 34238221 34238222 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 34238305 34238305 single base substitution G A intron_variant MELA-AU 11 34238322 34238322 single base substitution G A intron_variant MELA-AU 11 34238402 34238402 single base substitution G A intron_variant MELA-AU 11 34238497 34238497 single base substitution A G intron_variant MELA-AU 11 34238746 34238746 single base substitution T A intron_variant MELA-AU 11 34239637 34239637 single base substitution G A intron_variant MELA-AU 11 34240799 34240799 single base substitution G C intron_variant MELA-AU 11 34240829 34240829 single base substitution G A intron_variant MELA-AU 11 34241173 34241173 deletion of <=200bp T - intron_variant MELA-AU 11 34242816 34242817 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 34244475 34244476 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 34245287 34245287 single base substitution G A intron_variant MELA-AU 11 34246151 34246151 single base substitution A G intron_variant MELA-AU 11 34246362 34246362 single base substitution C T intron_variant MELA-AU 11 34248192 34248192 single base substitution G A intron_variant MELA-AU 11 34248528 34248528 single base substitution G A intron_variant MELA-AU 11 34248937 34248937 single base substitution G A intron_variant MELA-AU 11 34249686 34249686 single base substitution A C intron_variant MELA-AU 11 34250326 34250326 single base substitution C T intron_variant MELA-AU 11 34250524 34250524 single base substitution G A intron_variant MELA-AU 11 34250574 34250574 single base substitution G A intron_variant MELA-AU 11 34250643 34250643 single base substitution G A intron_variant MELA-AU 11 34250702 34250702 single base substitution G A intron_variant MELA-AU 11 34250713 34250713 single base substitution T A intron_variant MELA-AU 11 34251076 34251076 single base substitution C T intron_variant MELA-AU 11 34251204 34251204 single base substitution T C intron_variant MELA-AU 11 34251429 34251429 single base substitution G A intron_variant MELA-AU 11 34252472 34252472 single base substitution G A intron_variant MELA-AU 11 34253216 34253216 single base substitution C T intron_variant MELA-AU 11 34254666 34254666 single base substitution C T intron_variant MELA-AU 11 34254748 34254748 single base substitution G A intron_variant MELA-AU 11 34255898 34255899 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 34256323 34256323 single base substitution G A intron_variant MELA-AU 11 34256791 34256791 single base substitution G A intron_variant MELA-AU 11 34257437 34257437 single base substitution C A intron_variant MELA-AU 11 34257447 34257447 single base substitution A G intron_variant MELA-AU 11 34258199 34258199 single base substitution C T intron_variant MELA-AU 11 34258474 34258474 single base substitution C T intron_variant MELA-AU 11 34258544 34258544 single base substitution G A intron_variant MELA-AU 11 34259056 34259056 single base substitution G A intron_variant MELA-AU 11 34259100 34259100 single base substitution C T intron_variant MELA-AU 11 34259925 34259925 single base substitution C T intron_variant MELA-AU 11 34260619 34260619 single base substitution C T intron_variant MELA-AU 11 34260922 34260922 single base substitution C T intron_variant MELA-AU 11 34261758 34261758 single base substitution G A intron_variant MELA-AU 11 34261905 34261905 single base substitution G A intron_variant MELA-AU 11 34262522 34262522 single base substitution G A intron_variant MELA-AU 11 34262702 34262703 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 34263042 34263042 single base substitution C T intron_variant MELA-AU 11 34263260 34263260 single base substitution G A intron_variant MELA-AU 11 34263853 34263853 single base substitution G T intron_variant MELA-AU 11 34263874 34263874 single base substitution C T intron_variant MELA-AU 11 34264077 34264077 single base substitution G A exon_variant MELA-AU 11 34264077 34264077 single base substitution G A intron_variant MELA-AU 11 34264279 34264279 single base substitution C T intron_variant MELA-AU 11 34264279 34264279 single base substitution C T upstream_gene_variant MELA-AU 11 34264616 34264616 single base substitution C G intron_variant MELA-AU 11 34264616 34264616 single base substitution C G upstream_gene_variant MELA-AU 11 34265354 34265354 single base substitution G A intron_variant MELA-AU 11 34265354 34265354 single base substitution G A upstream_gene_variant MELA-AU 11 34265629 34265629 single base substitution G A intron_variant MELA-AU 11 34265629 34265629 single base substitution G A upstream_gene_variant MELA-AU 11 34266032 34266032 single base substitution A T intron_variant MELA-AU 11 34266032 34266032 single base substitution A T upstream_gene_variant MELA-AU 11 34266875 34266875 single base substitution G A intron_variant MELA-AU 11 34266875 34266875 single base substitution G A upstream_gene_variant MELA-AU 11 34267313 34267313 single base substitution G A intron_variant MELA-AU 11 34267313 34267313 single base substitution G A upstream_gene_variant MELA-AU 11 34267502 34267502 single base substitution G A intron_variant MELA-AU 11 34267502 34267502 single base substitution G A upstream_gene_variant MELA-AU 11 34267502 34267503 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 34267502 34267503 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 11 34267621 34267621 single base substitution G A intron_variant MELA-AU 11 34267621 34267621 single base substitution G A upstream_gene_variant MELA-AU 11 34267897 34267897 single base substitution C T intron_variant MELA-AU 11 34267897 34267897 single base substitution C T upstream_gene_variant MELA-AU 11 34268529 34268529 single base substitution G A intron_variant MELA-AU 11 34268529 34268529 single base substitution G A upstream_gene_variant MELA-AU 11 34268670 34268670 single base substitution A G intron_variant MELA-AU 11 34268670 34268670 single base substitution A G upstream_gene_variant MELA-AU 11 34268831 34268831 single base substitution G A intron_variant MELA-AU 11 34268831 34268831 single base substitution G A upstream_gene_variant MELA-AU 11 34269120 34269120 single base substitution G A intron_variant MELA-AU 11 34269266 34269266 single base substitution T A intron_variant MELA-AU 11 34269440 34269440 single base substitution G A intron_variant MELA-AU 11 34269523 34269523 single base substitution G A intron_variant MELA-AU 11 34269724 34269724 single base substitution T C intron_variant MELA-AU 11 34270366 34270366 single base substitution A T intron_variant MELA-AU 11 34270387 34270387 single base substitution G A intron_variant MELA-AU 11 34270763 34270763 single base substitution G A intron_variant MELA-AU 11 34271359 34271359 single base substitution A G intron_variant MELA-AU 11 34271545 34271545 single base substitution C G intron_variant MELA-AU 11 34271969 34271969 single base substitution A C intron_variant MELA-AU 11 34273748 34273748 single base substitution C A intron_variant MELA-AU 11 34273982 34273982 single base substitution G A intron_variant MELA-AU 11 34274180 34274180 single base substitution C T intron_variant MELA-AU 11 34274357 34274357 single base substitution G A intron_variant MELA-AU 11 34274505 34274505 single base substitution T C intron_variant MELA-AU 11 34274929 34274940 deletion of <=200bp ATTCCTGCTTTC - intron_variant MELA-AU 11 34275216 34275217 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 34275500 34275500 single base substitution C T intron_variant MELA-AU 11 34275509 34275509 single base substitution G A intron_variant MELA-AU 11 34276307 34276307 single base substitution C T intron_variant MELA-AU 11 34276322 34276322 single base substitution G A intron_variant MELA-AU 11 34276456 34276456 single base substitution G A intron_variant MELA-AU 11 34276828 34276828 single base substitution C T intron_variant MELA-AU 11 34278116 34278116 single base substitution G A intron_variant MELA-AU 11 34278168 34278168 single base substitution G A intron_variant MELA-AU 11 34278358 34278358 single base substitution C T intron_variant MELA-AU 11 34278470 34278470 single base substitution C G intron_variant MELA-AU 11 34279801 34279801 single base substitution G A intron_variant MELA-AU 11 34279966 34279966 single base substitution G A intron_variant MELA-AU 11 34280222 34280222 single base substitution G A intron_variant MELA-AU 11 34281320 34281320 single base substitution G A intron_variant MELA-AU 11 34282143 34282143 single base substitution G A intron_variant MELA-AU 11 34282144 34282144 single base substitution G A intron_variant MELA-AU 11 34282874 34282874 single base substitution C T intron_variant MELA-AU 11 34283175 34283175 single base substitution G A intron_variant MELA-AU 11 34283314 34283314 single base substitution C T intron_variant MELA-AU 11 34283456 34283456 single base substitution C T intron_variant MELA-AU 11 34283985 34283985 single base substitution G A intron_variant MELA-AU 11 34284460 34284460 single base substitution G A intron_variant MELA-AU 11 34284943 34284943 single base substitution G A intron_variant MELA-AU 11 34286174 34286174 single base substitution G T intron_variant MELA-AU 11 34286723 34286723 single base substitution T A intron_variant MELA-AU 11 34286862 34286862 single base substitution T C intron_variant MELA-AU 11 34287015 34287015 single base substitution C T intron_variant MELA-AU 11 34287215 34287215 single base substitution A C intron_variant MELA-AU 11 34288225 34288225 single base substitution C T intron_variant MELA-AU 11 34290136 34290136 single base substitution C T intron_variant MELA-AU 11 34291345 34291345 single base substitution G A intron_variant MELA-AU 11 34291641 34291642 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 34291676 34291676 single base substitution C T intron_variant MELA-AU 11 34291701 34291701 single base substitution C G intron_variant MELA-AU 11 34293362 34293362 single base substitution C A intron_variant MELA-AU 11 34294161 34294161 single base substitution G A intron_variant MELA-AU 11 34294180 34294180 single base substitution G A intron_variant MELA-AU 11 34295013 34295013 single base substitution A T intron_variant MELA-AU 11 34295290 34295290 single base substitution G A intron_variant MELA-AU 11 34295890 34295890 single base substitution A G intron_variant MELA-AU 11 34296128 34296128 single base substitution G A intron_variant MELA-AU 11 34296815 34296815 single base substitution G A intron_variant MELA-AU 11 34296816 34296816 single base substitution G A intron_variant MELA-AU 11 34297097 34297097 single base substitution G A intron_variant MELA-AU 11 34297676 34297677 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 34297870 34297870 single base substitution G A intron_variant MELA-AU 11 34297980 34297980 single base substitution G C intron_variant MELA-AU 11 34298256 34298256 single base substitution G A intron_variant MELA-AU 11 34298472 34298472 single base substitution G A intron_variant MELA-AU 11 34298667 34298667 single base substitution T C intron_variant MELA-AU 11 34298669 34298669 single base substitution G A intron_variant MELA-AU 11 34299958 34299958 single base substitution G A intron_variant MELA-AU 11 34299976 34299976 single base substitution A C intron_variant MELA-AU 11 34300048 34300048 single base substitution G A intron_variant MELA-AU 11 34300294 34300294 single base substitution G A intron_variant MELA-AU 11 34300358 34300358 single base substitution T A intron_variant MELA-AU 11 34300373 34300373 single base substitution G A intron_variant MELA-AU 11 34300449 34300449 single base substitution G A intron_variant MELA-AU 11 34300918 34300918 single base substitution G A intron_variant MELA-AU 11 34300926 34300926 single base substitution G A intron_variant MELA-AU 11 34301337 34301337 single base substitution T C intron_variant MELA-AU 11 34301658 34301658 single base substitution G A intron_variant MELA-AU 11 34301873 34301873 single base substitution T A intron_variant MELA-AU 11 34302787 34302787 single base substitution C T intron_variant MELA-AU 11 34302880 34302880 single base substitution G A intron_variant MELA-AU 11 34303201 34303202 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 11 34303635 34303635 single base substitution G A intron_variant MELA-AU 11 34303988 34303988 single base substitution A G intron_variant MELA-AU 11 34304118 34304119 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 34304504 34304504 single base substitution G A intron_variant MELA-AU 11 34304793 34304793 single base substitution C T intron_variant MELA-AU 11 34305265 34305265 single base substitution G A intron_variant MELA-AU 11 34305313 34305313 single base substitution G A intron_variant MELA-AU 11 34306436 34306436 single base substitution G A intron_variant MELA-AU 11 34306717 34306717 single base substitution G A intron_variant MELA-AU 11 34306718 34306718 single base substitution G A intron_variant MELA-AU 11 34306878 34306878 single base substitution G A intron_variant MELA-AU 11 34306887 34306887 single base substitution G A intron_variant MELA-AU 11 34307538 34307538 single base substitution G A intron_variant MELA-AU 11 34308520 34308520 single base substitution G A intron_variant MELA-AU 11 34309361 34309362 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 34309538 34309538 single base substitution G A intron_variant MELA-AU 11 34309896 34309896 single base substitution G A intron_variant MELA-AU 11 34310216 34310216 single base substitution G A intron_variant MELA-AU 11 34310237 34310237 single base substitution C T intron_variant MELA-AU 11 34310701 34310702 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 11 34310964 34310964 single base substitution T A intron_variant MELA-AU 11 34311606 34311606 single base substitution C T intron_variant MELA-AU 11 34311656 34311656 single base substitution G A intron_variant MELA-AU 11 34312149 34312149 single base substitution G A intron_variant MELA-AU 11 34313235 34313235 single base substitution G A intron_variant MELA-AU 11 34313302 34313302 single base substitution C T intron_variant MELA-AU 11 34313389 34313389 single base substitution G A intron_variant MELA-AU 11 34313476 34313476 single base substitution G A intron_variant MELA-AU 11 34314201 34314201 single base substitution G A intron_variant MELA-AU 11 34314394 34314394 single base substitution C T intron_variant MELA-AU 11 34315289 34315289 single base substitution C T intron_variant MELA-AU 11 34316084 34316084 single base substitution G A intron_variant MELA-AU 11 34316267 34316267 single base substitution T A intron_variant MELA-AU 11 34316312 34316312 single base substitution G A intron_variant MELA-AU 11 34316326 34316326 single base substitution G A intron_variant MELA-AU 11 34316749 34316749 single base substitution A T intron_variant MELA-AU 11 34317165 34317165 single base substitution G A intron_variant MELA-AU 11 34317307 34317307 single base substitution C T intron_variant MELA-AU 11 34317536 34317536 single base substitution G T intron_variant MELA-AU 11 34317908 34317908 single base substitution G A intron_variant MELA-AU 11 34318197 34318198 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 11 34318343 34318343 single base substitution A G intron_variant MELA-AU 11 34318559 34318559 single base substitution G A intron_variant MELA-AU 11 34318657 34318657 single base substitution G A intron_variant MELA-AU 11 34318761 34318761 single base substitution G A intron_variant MELA-AU 11 34320235 34320235 single base substitution C T intron_variant MELA-AU 11 34320976 34320976 single base substitution C T intron_variant MELA-AU 11 34321628 34321628 single base substitution G A intron_variant MELA-AU 11 34321965 34321965 single base substitution C G intron_variant MELA-AU 11 34322339 34322339 single base substitution C T intron_variant MELA-AU 11 34322551 34322551 single base substitution C T intron_variant MELA-AU 11 34322989 34322989 single base substitution C T intron_variant MELA-AU 11 34324173 34324173 single base substitution G C intron_variant MELA-AU 11 34324794 34324794 single base substitution C T intron_variant MELA-AU 11 34325114 34325114 single base substitution A G intron_variant MELA-AU 11 34325299 34325299 single base substitution C T intron_variant MELA-AU 11 34325380 34325380 single base substitution G A intron_variant MELA-AU 11 34326254 34326254 single base substitution G A intron_variant MELA-AU 11 34327929 34327929 single base substitution G A intron_variant MELA-AU 11 34327957 34327957 single base substitution T G intron_variant MELA-AU 11 34328182 34328182 single base substitution G A intron_variant MELA-AU 11 34328342 34328342 single base substitution T G intron_variant MELA-AU 11 34328905 34328905 single base substitution A G intron_variant MELA-AU 11 34329364 34329364 single base substitution G A intron_variant MELA-AU 11 34329479 34329479 single base substitution C T intron_variant MELA-AU 11 34329513 34329513 single base substitution G A intron_variant MELA-AU 11 34330212 34330212 single base substitution T C intron_variant MELA-AU 11 34330260 34330260 single base substitution T C intron_variant MELA-AU 11 34330824 34330824 single base substitution G A intron_variant MELA-AU 11 34331849 34331849 single base substitution C T intron_variant MELA-AU 11 34332266 34332266 single base substitution G A intron_variant MELA-AU 11 34332402 34332402 single base substitution C T intron_variant MELA-AU 11 34332686 34332686 single base substitution G A intron_variant MELA-AU 11 34333320 34333320 single base substitution G A intron_variant MELA-AU 11 34333485 34333485 single base substitution G A intron_variant MELA-AU 11 34333495 34333495 single base substitution C T intron_variant MELA-AU 11 34333497 34333497 single base substitution G A intron_variant MELA-AU 11 34333615 34333615 single base substitution G A intron_variant MELA-AU 11 34333905 34333905 single base substitution G A intron_variant MELA-AU 11 34333989 34333989 single base substitution G A intron_variant MELA-AU 11 34334265 34334265 single base substitution G A intron_variant MELA-AU 11 34334323 34334323 single base substitution C T intron_variant MELA-AU 11 34334643 34334643 single base substitution G A intron_variant MELA-AU 11 34334775 34334775 single base substitution G A intron_variant MELA-AU 11 34335436 34335436 single base substitution C T intron_variant MELA-AU 11 34335471 34335471 single base substitution A G intron_variant MELA-AU 11 34335568 34335568 single base substitution G A intron_variant MELA-AU 11 34336274 34336274 single base substitution G A intron_variant MELA-AU 11 34336604 34336604 single base substitution G A intron_variant MELA-AU 11 34337033 34337033 single base substitution C A intron_variant MELA-AU 11 34337442 34337442 single base substitution G A intron_variant MELA-AU 11 34337595 34337595 single base substitution G A intron_variant MELA-AU 11 34338039 34338039 single base substitution C T intron_variant MELA-AU 11 34339235 34339236 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 34340178 34340178 single base substitution C T intron_variant MELA-AU 11 34340955 34340955 single base substitution G A intron_variant MELA-AU 11 34341168 34341168 single base substitution C T intron_variant MELA-AU 11 34341197 34341197 single base substitution G A intron_variant MELA-AU 11 34342015 34342015 single base substitution C T intron_variant MELA-AU 11 34342191 34342191 single base substitution G A intron_variant MELA-AU 11 34342250 34342250 single base substitution C G intron_variant MELA-AU 11 34342293 34342293 single base substitution C G intron_variant MELA-AU 11 34342655 34342655 single base substitution G A intron_variant MELA-AU 11 34342918 34342918 single base substitution T C intron_variant MELA-AU 11 34343141 34343141 single base substitution G A intron_variant MELA-AU 11 34343151 34343151 single base substitution G A intron_variant MELA-AU 11 34343671 34343671 single base substitution C T intron_variant MELA-AU 11 34344298 34344298 single base substitution A G intron_variant MELA-AU 11 34345089 34345089 single base substitution C T intron_variant MELA-AU 11 34345333 34345333 single base substitution G A intron_variant MELA-AU 11 34345795 34345795 single base substitution C T intron_variant MELA-AU 11 34346079 34346079 single base substitution C T intron_variant MELA-AU 11 34346393 34346394 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 34346630 34346630 single base substitution G A intron_variant MELA-AU 11 34346757 34346757 single base substitution G A intron_variant MELA-AU 11 34348787 34348787 single base substitution G A intron_variant MELA-AU 11 34349168 34349168 single base substitution C T intron_variant MELA-AU 11 34349256 34349256 single base substitution C T intron_variant MELA-AU 11 34350153 34350153 single base substitution C T intron_variant MELA-AU 11 34350178 34350178 single base substitution T C intron_variant MELA-AU 11 34350350 34350350 single base substitution A T intron_variant MELA-AU 11 34350472 34350472 single base substitution C A intron_variant MELA-AU 11 34350817 34350817 single base substitution A T intron_variant MELA-AU 11 34351230 34351230 single base substitution A C intron_variant MELA-AU 11 34351490 34351490 single base substitution G A intron_variant MELA-AU 11 34352803 34352803 single base substitution C T intron_variant MELA-AU 11 34355013 34355013 single base substitution G A intron_variant MELA-AU 11 34355228 34355228 single base substitution G A intron_variant MELA-AU 11 34355545 34355545 single base substitution G A intron_variant MELA-AU 11 34355547 34355547 single base substitution G A intron_variant MELA-AU 11 34358321 34358321 single base substitution C T intron_variant MELA-AU 11 34358437 34358437 single base substitution G A intron_variant MELA-AU 11 34358564 34358564 single base substitution G A intron_variant MELA-AU 11 34358852 34358852 single base substitution G A intron_variant MELA-AU 11 34359198 34359198 single base substitution A C intron_variant MELA-AU 11 34359467 34359467 single base substitution G A intron_variant MELA-AU 11 34359482 34359482 single base substitution G A intron_variant MELA-AU 11 34359507 34359507 single base substitution C T intron_variant MELA-AU 11 34359697 34359697 single base substitution G A intron_variant MELA-AU 11 34359720 34359720 single base substitution G A intron_variant MELA-AU 11 34359932 34359932 single base substitution A G intron_variant MELA-AU 11 34360098 34360098 single base substitution A T intron_variant MELA-AU 11 34360755 34360755 single base substitution G A intron_variant MELA-AU 11 34361207 34361207 single base substitution G A intron_variant MELA-AU 11 34361316 34361316 single base substitution G A intron_variant MELA-AU 11 34362810 34362810 single base substitution G A intron_variant MELA-AU 11 34362828 34362828 single base substitution G A intron_variant MELA-AU 11 34363397 34363397 single base substitution C T intron_variant MELA-AU 11 34363654 34363654 single base substitution G A intron_variant MELA-AU 11 34363770 34363770 single base substitution G A intron_variant MELA-AU 11 34364519 34364519 single base substitution C T intron_variant MELA-AU 11 34364523 34364523 single base substitution C T intron_variant MELA-AU 11 34364527 34364527 single base substitution C T intron_variant MELA-AU 11 34364720 34364720 single base substitution C T intron_variant MELA-AU 11 34365256 34365256 single base substitution G A intron_variant MELA-AU 11 34365434 34365434 single base substitution G A intron_variant MELA-AU 11 34365868 34365869 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 34366074 34366074 single base substitution C T intron_variant MELA-AU 11 34366701 34366701 single base substitution G A intron_variant MELA-AU 11 34368916 34368916 single base substitution G A intron_variant MELA-AU 11 34369837 34369837 single base substitution G A intron_variant MELA-AU 11 34370059 34370059 single base substitution A T intron_variant MELA-AU 11 34370246 34370246 single base substitution G A intron_variant MELA-AU 11 34370582 34370582 single base substitution C T intron_variant MELA-AU 11 34371750 34371750 single base substitution G A intron_variant MELA-AU 11 34372107 34372107 single base substitution G A intron_variant MELA-AU 11 34372370 34372370 single base substitution G A intron_variant MELA-AU 11 34373060 34373060 single base substitution G A intron_variant MELA-AU 11 34374375 34374375 single base substitution G A intron_variant MELA-AU 11 34376130 34376131 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 34377518 34377518 single base substitution A C intron_variant MELA-AU 11 34379954 34379954 single base substitution G A upstream_gene_variant MELA-AU 11 34379999 34379999 single base substitution G A upstream_gene_variant MELA-AU 11 34380248 34380248 single base substitution C T upstream_gene_variant MELA-AU 11 34382135 34382135 single base substitution A G upstream_gene_variant MELA-AU 11 34382305 34382305 single base substitution G A upstream_gene_variant MELA-AU 11 34382632 34382632 single base substitution A T upstream_gene_variant MELA-AU 11 34382862 34382862 single base substitution G A upstream_gene_variant MELA-AU 11 34383089 34383090 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 11 34383149 34383149 single base substitution G A upstream_gene_variant MELA-AU 11 34383257 34383257 single base substitution C T upstream_gene_variant MELA-AU 11 34383549 34383549 single base substitution C T upstream_gene_variant MELA-AU 11 34384017 34384017 single base substitution C T upstream_gene_variant MELA-AU 11 34384118 34384118 single base substitution G A upstream_gene_variant MELA-AU 11 34384213 34384213 single base substitution C T upstream_gene_variant MELA-AU 11 34384522 34384522 single base substitution G A upstream_gene_variant ORCA-IN 11 34175912 34175912 single base substitution G T missense_variant A741D 2222C>A ORCA-IN 11 34175912 34175912 single base substitution G T missense_variant A927D 2780C>A ORCA-IN 11 34182491 34182491 single base substitution C T missense_variant E600K 1798G>A ORCA-IN 11 34182491 34182491 single base substitution C T missense_variant E786K 2356G>A ORCA-IN 11 34182599 34182599 single base substitution C T missense_variant E564K 1690G>A ORCA-IN 11 34182599 34182599 single base substitution C T missense_variant E750K 2248G>A ORCA-IN 11 34184148 34184148 single base substitution G A synonymous_variant D545D 1635C>T ORCA-IN 11 34184148 34184148 single base substitution G A synonymous_variant D731D 2193C>T ORCA-IN 11 34184163 34184163 single base substitution C A missense_variant E540D 1620G>T ORCA-IN 11 34184163 34184163 single base substitution C A missense_variant E726D 2178G>T ORCA-IN 11 34186319 34186319 single base substitution G C synonymous_variant L448L 1344C>G ORCA-IN 11 34186319 34186319 single base substitution G C synonymous_variant L634L 1902C>G ORCA-IN 11 34191600 34191600 single base substitution C T downstream_gene_variant ORCA-IN 11 34191600 34191600 single base substitution C T intron_variant ORCA-IN 11 34219105 34219105 single base substitution G A intron_variant ORCA-IN 11 34234215 34234215 single base substitution A G intron_variant ORCA-IN 11 34235686 34235686 single base substitution A C intron_variant ORCA-IN 11 34235762 34235762 single base substitution G A intron_variant ORCA-IN 11 34258823 34258823 deletion of <=200bp C - intron_variant ORCA-IN 11 34266480 34266480 single base substitution G A intron_variant ORCA-IN 11 34266480 34266480 single base substitution G A upstream_gene_variant ORCA-IN 11 34277608 34277608 single base substitution C T intron_variant ORCA-IN 11 34299455 34299455 single base substitution G A intron_variant ORCA-IN 11 34307996 34307996 single base substitution C A intron_variant ORCA-IN 11 34315270 34315270 insertion of <=200bp - A intron_variant ORCA-IN 11 34320243 34320243 single base substitution G A intron_variant ORCA-IN 11 34348782 34348782 single base substitution C G intron_variant ORCA-IN 11 34353035 34353035 single base substitution C A intron_variant ORCA-IN 11 34366637 34366638 deletion of <=200bp AT - intron_variant ORCA-IN 11 34378637 34378637 single base substitution A G 5_prime_UTR_variant ORCA-IN 11 34378637 34378637 single base substitution A G missense_variant V165A 494T>C ORCA-IN 11 34379041 34379041 single base substitution G A synonymous_variant L30L 90C>T ORCA-IN 11 34379041 34379041 single base substitution G A upstream_gene_variant OV-AU 11 34168879 34168879 single base substitution C A downstream_gene_variant OV-AU 11 34173082 34173082 single base substitution C G 3_prime_UTR_variant OV-AU 11 34173359 34173359 single base substitution T G 3_prime_UTR_variant OV-AU 11 34174624 34174624 single base substitution C A intron_variant OV-AU 11 34189795 34189795 single base substitution G A downstream_gene_variant OV-AU 11 34189795 34189795 single base substitution G A intron_variant OV-AU 11 34190540 34190540 single base substitution G C downstream_gene_variant OV-AU 11 34190540 34190540 single base substitution G C intron_variant OV-AU 11 34192448 34192448 single base substitution C T downstream_gene_variant OV-AU 11 34192448 34192448 single base substitution C T splice_region_variant OV-AU 11 34193732 34193732 single base substitution C T downstream_gene_variant OV-AU 11 34193732 34193732 single base substitution C T intron_variant OV-AU 11 34197234 34197234 single base substitution G A intron_variant OV-AU 11 34198120 34198120 single base substitution T C intron_variant OV-AU 11 34199266 34199266 single base substitution C G intron_variant OV-AU 11 34199483 34199483 single base substitution C G intron_variant OV-AU 11 34199788 34199788 single base substitution C A intron_variant OV-AU 11 34211099 34211099 single base substitution G A intron_variant OV-AU 11 34214553 34214553 single base substitution G C intron_variant OV-AU 11 34234991 34234991 single base substitution G A intron_variant OV-AU 11 34241086 34241086 single base substitution T G intron_variant OV-AU 11 34241841 34241841 single base substitution C A intron_variant OV-AU 11 34243398 34243398 single base substitution C A intron_variant OV-AU 11 34245577 34245577 single base substitution C T intron_variant OV-AU 11 34251379 34251379 single base substitution C T intron_variant OV-AU 11 34269999 34269999 single base substitution A T intron_variant OV-AU 11 34276855 34276855 single base substitution C T intron_variant OV-AU 11 34277326 34277326 single base substitution A T intron_variant OV-AU 11 34278393 34278393 single base substitution A C intron_variant OV-AU 11 34280332 34280332 single base substitution G C intron_variant OV-AU 11 34282486 34282486 single base substitution T A intron_variant OV-AU 11 34282678 34282678 single base substitution C T intron_variant OV-AU 11 34283359 34283359 single base substitution T A intron_variant OV-AU 11 34283395 34283395 single base substitution C G intron_variant OV-AU 11 34288006 34288006 single base substitution C G intron_variant OV-AU 11 34288334 34288334 single base substitution C T intron_variant OV-AU 11 34294347 34294347 single base substitution G A intron_variant OV-AU 11 34294394 34294394 single base substitution G C intron_variant OV-AU 11 34295929 34295929 single base substitution T C intron_variant OV-AU 11 34296111 34296111 single base substitution C T intron_variant OV-AU 11 34298599 34298599 single base substitution C A intron_variant OV-AU 11 34300365 34300365 single base substitution A G intron_variant OV-AU 11 34301875 34301875 single base substitution G A intron_variant OV-AU 11 34306045 34306045 single base substitution G A intron_variant OV-AU 11 34312822 34312822 single base substitution G A intron_variant OV-AU 11 34329603 34329603 single base substitution C T intron_variant OV-AU 11 34332032 34332032 single base substitution C A intron_variant OV-AU 11 34333462 34333462 single base substitution C T intron_variant OV-AU 11 34333697 34333697 single base substitution A G intron_variant OV-AU 11 34334926 34334926 single base substitution G A intron_variant OV-AU 11 34338664 34338664 single base substitution C A intron_variant OV-AU 11 34338758 34338758 single base substitution T C intron_variant OV-AU 11 34356333 34356333 single base substitution A C intron_variant OV-AU 11 34361702 34361702 single base substitution C G intron_variant OV-AU 11 34365761 34365761 single base substitution T C intron_variant OV-AU 11 34369337 34369337 single base substitution A C intron_variant OV-AU 11 34374323 34374323 single base substitution C T intron_variant OV-AU 11 34375248 34375248 single base substitution C G intron_variant OV-AU 11 34376057 34376057 single base substitution T G intron_variant OV-AU 11 34384248 34384248 single base substitution G A upstream_gene_variant PACA-AU 11 34167825 34167825 single base substitution C T downstream_gene_variant PACA-AU 11 34170328 34170328 single base substitution C T downstream_gene_variant PACA-AU 11 34174734 34174734 single base substitution G A intron_variant PACA-AU 11 34176528 34176528 single base substitution C T intron_variant PACA-AU 11 34182133 34182133 single base substitution G A intron_variant PACA-AU 11 34183346 34183346 single base substitution C T intron_variant PACA-AU 11 34190370 34190370 single base substitution C T downstream_gene_variant PACA-AU 11 34190370 34190370 single base substitution C T intron_variant PACA-AU 11 34193259 34193259 single base substitution G A downstream_gene_variant PACA-AU 11 34193259 34193259 single base substitution G A intron_variant PACA-AU 11 34195840 34195840 single base substitution C A intron_variant PACA-AU 11 34195841 34195841 single base substitution C A intron_variant PACA-AU 11 34197534 34197534 single base substitution C A intron_variant PACA-AU 11 34202256 34202256 single base substitution C T intron_variant PACA-AU 11 34204262 34204262 single base substitution C T intron_variant PACA-AU 11 34207162 34207162 single base substitution C A intron_variant PACA-AU 11 34209285 34209285 single base substitution C T intron_variant PACA-AU 11 34213533 34213533 single base substitution G A intron_variant PACA-AU 11 34217670 34217670 deletion of <=200bp C - intron_variant PACA-AU 11 34218419 34218419 single base substitution G T intron_variant PACA-AU 11 34220008 34220008 insertion of <=200bp - C intron_variant PACA-AU 11 34227151 34227151 single base substitution T G intron_variant PACA-AU 11 34228342 34228342 single base substitution C A intron_variant PACA-AU 11 34233216 34233216 single base substitution G A intron_variant PACA-AU 11 34243885 34243885 single base substitution G A intron_variant PACA-AU 11 34251425 34251425 single base substitution T A intron_variant PACA-AU 11 34252537 34252537 single base substitution C T intron_variant PACA-AU 11 34252954 34252954 single base substitution G A intron_variant PACA-AU 11 34253030 34253030 single base substitution G A intron_variant PACA-AU 11 34253039 34253039 single base substitution G A intron_variant PACA-AU 11 34256241 34256241 single base substitution G T intron_variant PACA-AU 11 34257807 34257807 deletion of <=200bp A - intron_variant PACA-AU 11 34275705 34275705 single base substitution T C intron_variant PACA-AU 11 34275876 34275876 single base substitution C A intron_variant PACA-AU 11 34278919 34278919 single base substitution C T intron_variant PACA-AU 11 34284747 34284747 single base substitution G A intron_variant PACA-AU 11 34292172 34292172 single base substitution C T intron_variant PACA-AU 11 34292405 34292405 single base substitution T A intron_variant PACA-AU 11 34294652 34294652 single base substitution T A intron_variant PACA-AU 11 34298102 34298102 single base substitution C T intron_variant PACA-AU 11 34300317 34300317 single base substitution C T intron_variant PACA-AU 11 34316268 34316268 single base substitution T A intron_variant PACA-AU 11 34319952 34319952 single base substitution C A intron_variant PACA-AU 11 34320559 34320559 single base substitution C T intron_variant PACA-AU 11 34322703 34322703 single base substitution C T intron_variant PACA-AU 11 34326151 34326151 single base substitution G A intron_variant PACA-AU 11 34331230 34331230 single base substitution T C intron_variant PACA-AU 11 34332408 34332408 single base substitution C T intron_variant PACA-AU 11 34335269 34335269 single base substitution A T intron_variant PACA-AU 11 34343524 34343524 single base substitution T A intron_variant PACA-AU 11 34344139 34344139 single base substitution A T intron_variant PACA-AU 11 34357246 34357246 single base substitution G C intron_variant PACA-AU 11 34358601 34358601 single base substitution G A intron_variant PACA-AU 11 34363331 34363331 single base substitution C T intron_variant PACA-AU 11 34365285 34365285 single base substitution C T intron_variant PACA-AU 11 34368687 34368687 single base substitution G T intron_variant PACA-AU 11 34369632 34369632 single base substitution A G intron_variant PACA-CA 11 34173973 34173973 single base substitution T C synonymous_variant A1013A 3039A>G PACA-CA 11 34173973 34173973 single base substitution T C synonymous_variant A827A 2481A>G PACA-CA 11 34187356 34187373 deletion of <=200bp CAGAGCCTCAGTCTTCCT - intron_variant PACA-CA 11 34187781 34187781 single base substitution A C intron_variant PACA-CA 11 34188528 34188528 insertion of <=200bp - GA intron_variant PACA-CA 11 34192517 34192517 single base substitution G A downstream_gene_variant PACA-CA 11 34192517 34192517 single base substitution G A missense_variant T314M 941C>T PACA-CA 11 34192517 34192517 single base substitution G A missense_variant T500M 1499C>T PACA-CA 11 34194292 34194292 single base substitution G C downstream_gene_variant PACA-CA 11 34194292 34194292 single base substitution G C intron_variant PACA-CA 11 34199830 34199830 single base substitution G T intron_variant PACA-CA 11 34201782 34201782 single base substitution C G intron_variant PACA-CA 11 34208684 34208684 single base substitution A G intron_variant PACA-CA 11 34209257 34209257 single base substitution T A intron_variant PACA-CA 11 34212775 34212775 single base substitution C T intron_variant PACA-CA 11 34214757 34214757 single base substitution C G intron_variant PACA-CA 11 34218791 34218791 single base substitution C T intron_variant PACA-CA 11 34220152 34220152 single base substitution A G intron_variant PACA-CA 11 34220302 34220302 single base substitution G A intron_variant PACA-CA 11 34223703 34223703 single base substitution G C intron_variant PACA-CA 11 34224184 34224184 single base substitution C T intron_variant PACA-CA 11 34234056 34234056 single base substitution G A intron_variant PACA-CA 11 34237682 34237682 single base substitution G T intron_variant PACA-CA 11 34239095 34239095 single base substitution G A intron_variant PACA-CA 11 34239257 34239257 single base substitution C T intron_variant PACA-CA 11 34239313 34239313 single base substitution A G intron_variant PACA-CA 11 34242735 34242735 single base substitution G T intron_variant PACA-CA 11 34242756 34242756 single base substitution G A intron_variant PACA-CA 11 34247877 34247877 single base substitution T C intron_variant PACA-CA 11 34247996 34247996 single base substitution C A intron_variant PACA-CA 11 34251309 34251309 single base substitution A T intron_variant PACA-CA 11 34254197 34254197 single base substitution T G intron_variant PACA-CA 11 34260650 34260650 single base substitution C T intron_variant PACA-CA 11 34261297 34261297 single base substitution C A intron_variant PACA-CA 11 34261298 34261298 single base substitution C T intron_variant PACA-CA 11 34262933 34262933 single base substitution G A intron_variant PACA-CA 11 34267060 34267060 single base substitution C T intron_variant PACA-CA 11 34267060 34267060 single base substitution C T upstream_gene_variant PACA-CA 11 34269057 34269057 single base substitution A G intron_variant PACA-CA 11 34269057 34269057 single base substitution A G upstream_gene_variant PACA-CA 11 34277775 34277775 single base substitution A G intron_variant PACA-CA 11 34279212 34279212 single base substitution T C intron_variant PACA-CA 11 34282677 34282677 insertion of <=200bp - C intron_variant PACA-CA 11 34285548 34285548 single base substitution G A intron_variant PACA-CA 11 34286049 34286049 single base substitution C T intron_variant PACA-CA 11 34288442 34288463 deletion of <=200bp AGGTATGATAAATGGACACAAC - intron_variant PACA-CA 11 34288989 34288989 single base substitution T C intron_variant PACA-CA 11 34289301 34289301 single base substitution G A intron_variant PACA-CA 11 34290516 34290516 single base substitution G T intron_variant PACA-CA 11 34297190 34297190 single base substitution C T intron_variant PACA-CA 11 34299726 34299726 insertion of <=200bp - A intron_variant PACA-CA 11 34300886 34300886 single base substitution C T intron_variant PACA-CA 11 34301821 34301821 single base substitution A G intron_variant PACA-CA 11 34310876 34310876 single base substitution G A intron_variant PACA-CA 11 34316801 34316801 single base substitution G A intron_variant PACA-CA 11 34318817 34318817 insertion of <=200bp - CT intron_variant PACA-CA 11 34319064 34319064 single base substitution C T intron_variant PACA-CA 11 34325122 34325122 insertion of <=200bp - A intron_variant PACA-CA 11 34327554 34327554 single base substitution T A intron_variant PACA-CA 11 34329047 34329047 single base substitution G A intron_variant PACA-CA 11 34330736 34330736 single base substitution A G intron_variant PACA-CA 11 34331161 34331161 single base substitution A T intron_variant PACA-CA 11 34338780 34338780 single base substitution T C intron_variant PACA-CA 11 34344908 34344908 single base substitution T G intron_variant PACA-CA 11 34344931 34344931 single base substitution G T intron_variant PACA-CA 11 34346594 34346594 insertion of <=200bp - CCTTGGC intron_variant PACA-CA 11 34347270 34347270 single base substitution G T intron_variant PACA-CA 11 34347361 34347361 single base substitution G C intron_variant PACA-CA 11 34351528 34351528 single base substitution C A intron_variant PACA-CA 11 34353898 34353898 single base substitution A C intron_variant PACA-CA 11 34356873 34356873 single base substitution G T intron_variant PACA-CA 11 34357368 34357368 single base substitution A G intron_variant PACA-CA 11 34357441 34357441 single base substitution G C intron_variant PACA-CA 11 34359094 34359094 single base substitution A C intron_variant PACA-CA 11 34365485 34365485 single base substitution C A intron_variant PACA-CA 11 34366437 34366437 insertion of <=200bp - C intron_variant PACA-CA 11 34370015 34370015 single base substitution C T intron_variant PACA-CA 11 34370911 34370911 single base substitution C T intron_variant PACA-CA 11 34373952 34373952 deletion of <=200bp A - intron_variant PACA-CA 11 34374293 34374293 single base substitution C A intron_variant PACA-CA 11 34377731 34377731 single base substitution C T intron_variant PACA-CA 11 34379897 34379897 single base substitution G A upstream_gene_variant PAEN-AU 11 34226589 34226589 single base substitution C G intron_variant PAEN-AU 11 34327939 34327939 single base substitution G A intron_variant PAEN-AU 11 34349924 34349924 single base substitution G T intron_variant PAEN-AU 11 34359415 34359415 single base substitution A C intron_variant PAEN-IT 11 34207150 34207150 single base substitution A G intron_variant PAEN-IT 11 34221864 34221864 single base substitution T C intron_variant PAEN-IT 11 34238459 34238459 single base substitution T A intron_variant PAEN-IT 11 34257517 34257517 single base substitution G A intron_variant PAEN-IT 11 34269384 34269384 single base substitution G C intron_variant PAEN-IT 11 34311901 34311901 single base substitution C G intron_variant PAEN-IT 11 34373079 34373079 single base substitution G T intron_variant PAEN-IT 11 34383518 34383518 single base substitution G T upstream_gene_variant PBCA-DE 11 34175654 34175654 single base substitution C T intron_variant PBCA-DE 11 34184854 34184854 single base substitution G T intron_variant PBCA-DE 11 34185649 34185649 single base substitution T C intron_variant PBCA-DE 11 34186187 34186187 single base substitution G T intron_variant PBCA-DE 11 34192637 34192637 single base substitution A G downstream_gene_variant PBCA-DE 11 34192637 34192637 single base substitution A G intron_variant PBCA-DE 11 34194975 34194975 deletion of <=200bp G - intron_variant PBCA-DE 11 34198395 34198395 single base substitution T A intron_variant PBCA-DE 11 34205588 34205588 single base substitution C T intron_variant PBCA-DE 11 34205787 34205787 insertion of <=200bp - A intron_variant PBCA-DE 11 34213732 34213732 insertion of <=200bp - G intron_variant PBCA-DE 11 34216135 34216135 insertion of <=200bp - GTAATGCTGTAAGCTCAGC intron_variant PBCA-DE 11 34216772 34216772 single base substitution G A intron_variant PBCA-DE 11 34225450 34225450 single base substitution G A intron_variant PBCA-DE 11 34229739 34229739 single base substitution C G intron_variant PBCA-DE 11 34249700 34249700 single base substitution A G intron_variant PBCA-DE 11 34252548 34252548 single base substitution G A intron_variant PBCA-DE 11 34257132 34257132 single base substitution G A intron_variant PBCA-DE 11 34274904 34274906 deletion of <=200bp CAG - intron_variant PBCA-DE 11 34296676 34296676 single base substitution A T intron_variant PBCA-DE 11 34299736 34299736 insertion of <=200bp - A intron_variant PBCA-DE 11 34307627 34307627 single base substitution C G intron_variant PBCA-DE 11 34311883 34311883 single base substitution C A intron_variant PBCA-DE 11 34318585 34318585 deletion of <=200bp A - intron_variant PBCA-DE 11 34322878 34322878 single base substitution A G intron_variant PBCA-DE 11 34328268 34328268 single base substitution C T intron_variant PBCA-DE 11 34330053 34330053 single base substitution T C intron_variant PBCA-DE 11 34331403 34331411 deletion of <=200bp TGTGATATG - intron_variant PBCA-DE 11 34338237 34338237 single base substitution A T intron_variant PBCA-DE 11 34343342 34343342 single base substitution G T intron_variant PBCA-DE 11 34345831 34345831 single base substitution C T intron_variant PBCA-DE 11 34375563 34375563 single base substitution C A intron_variant PRAD-CA 11 34169386 34169386 single base substitution G A downstream_gene_variant PRAD-CA 11 34170167 34170167 single base substitution C T downstream_gene_variant PRAD-CA 11 34188616 34188616 single base substitution G A intron_variant PRAD-CA 11 34204473 34204473 single base substitution G A intron_variant PRAD-CA 11 34207614 34207614 single base substitution G C intron_variant PRAD-CA 11 34222300 34222300 single base substitution G A intron_variant PRAD-CA 11 34224908 34224908 single base substitution A C intron_variant PRAD-CA 11 34285357 34285357 single base substitution C A intron_variant PRAD-CA 11 34285722 34285722 single base substitution C T intron_variant PRAD-CA 11 34325377 34325377 single base substitution A G intron_variant PRAD-CA 11 34338237 34338237 single base substitution A T intron_variant PRAD-CA 11 34338400 34338400 single base substitution A T intron_variant PRAD-CA 11 34358594 34358594 single base substitution C T intron_variant PRAD-CA 11 34363229 34363229 single base substitution C A intron_variant PRAD-CA 11 34373447 34373447 single base substitution T C intron_variant PRAD-CA 11 34383873 34383873 single base substitution A C upstream_gene_variant PRAD-UK 11 34187733 34187733 single base substitution T C intron_variant PRAD-UK 11 34189773 34189773 single base substitution T A downstream_gene_variant PRAD-UK 11 34189773 34189773 single base substitution T A intron_variant PRAD-UK 11 34196476 34196476 single base substitution C G intron_variant PRAD-UK 11 34196795 34196795 single base substitution T A intron_variant PRAD-UK 11 34211602 34211602 single base substitution C A intron_variant PRAD-UK 11 34214851 34214851 single base substitution C A intron_variant PRAD-UK 11 34234872 34234872 single base substitution C A intron_variant PRAD-UK 11 34267821 34267821 single base substitution T A intron_variant PRAD-UK 11 34267821 34267821 single base substitution T A upstream_gene_variant PRAD-UK 11 34274340 34274340 single base substitution A G intron_variant PRAD-UK 11 34299038 34299038 deletion of <=200bp C - intron_variant PRAD-UK 11 34299042 34299042 insertion of <=200bp - A intron_variant PRAD-UK 11 34301002 34301003 deletion of <=200bp CA - intron_variant PRAD-UK 11 34306287 34306287 single base substitution A G intron_variant PRAD-UK 11 34318387 34318387 single base substitution C T intron_variant PRAD-UK 11 34329286 34329286 single base substitution C G intron_variant PRAD-UK 11 34333190 34333190 single base substitution C G intron_variant PRAD-UK 11 34341114 34341114 single base substitution G A intron_variant PRAD-UK 11 34382285 34382285 single base substitution G C upstream_gene_variant PRAD-US 11 34186310 34186310 single base substitution C A missense_variant M451I 1353G>T PRAD-US 11 34186310 34186310 single base substitution C A missense_variant M637I 1911G>T RECA-CN 11 34181526 34181526 single base substitution A C missense_variant S659A 1975T>G RECA-CN 11 34181526 34181526 single base substitution A C missense_variant S845A 2533T>G RECA-EU 11 34175988 34175988 single base substitution G A intron_variant RECA-EU 11 34176960 34176960 single base substitution A G intron_variant RECA-EU 11 34178925 34178925 single base substitution A G intron_variant RECA-EU 11 34195468 34195468 single base substitution A G intron_variant RECA-EU 11 34202413 34202413 single base substitution C A intron_variant RECA-EU 11 34205307 34205307 single base substitution C T intron_variant RECA-EU 11 34205308 34205308 single base substitution C G intron_variant RECA-EU 11 34230933 34230933 single base substitution G A intron_variant RECA-EU 11 34232701 34232701 single base substitution G A intron_variant RECA-EU 11 34252188 34252188 single base substitution A G intron_variant RECA-EU 11 34264466 34264466 single base substitution C T intron_variant RECA-EU 11 34264466 34264466 single base substitution C T upstream_gene_variant RECA-EU 11 34271637 34271637 single base substitution G A intron_variant RECA-EU 11 34272575 34272575 single base substitution T C intron_variant RECA-EU 11 34293370 34293370 single base substitution A G intron_variant RECA-EU 11 34299348 34299348 single base substitution T C intron_variant RECA-EU 11 34299792 34299792 single base substitution A C intron_variant RECA-EU 11 34309202 34309202 single base substitution A G intron_variant RECA-EU 11 34315707 34315707 single base substitution C A intron_variant RECA-EU 11 34317064 34317064 single base substitution G A intron_variant RECA-EU 11 34319923 34319923 single base substitution A C intron_variant RECA-EU 11 34328413 34328413 single base substitution T C intron_variant RECA-EU 11 34346402 34346402 single base substitution C T intron_variant RECA-EU 11 34356161 34356161 single base substitution A G intron_variant RECA-EU 11 34359001 34359001 single base substitution T C intron_variant RECA-EU 11 34373005 34373005 single base substitution C A intron_variant SKCA-BR 11 34167798 34167798 single base substitution C T downstream_gene_variant SKCA-BR 11 34171758 34171758 single base substitution G A downstream_gene_variant SKCA-BR 11 34175121 34175121 single base substitution T G intron_variant SKCA-BR 11 34176604 34176604 single base substitution C T intron_variant SKCA-BR 11 34179313 34179313 single base substitution T C intron_variant SKCA-BR 11 34182757 34182757 single base substitution T C intron_variant SKCA-BR 11 34182771 34182771 single base substitution T C intron_variant SKCA-BR 11 34182798 34182798 single base substitution G A intron_variant SKCA-BR 11 34184553 34184553 single base substitution T G intron_variant SKCA-BR 11 34188816 34188816 single base substitution G A missense_variant S396F 1187C>T SKCA-BR 11 34188816 34188816 single base substitution G A missense_variant S582F 1745C>T SKCA-BR 11 34190054 34190054 single base substitution G A downstream_gene_variant SKCA-BR 11 34190054 34190054 single base substitution G A intron_variant SKCA-BR 11 34191796 34191796 single base substitution C T downstream_gene_variant SKCA-BR 11 34191796 34191796 single base substitution C T intron_variant SKCA-BR 11 34193942 34193942 single base substitution A T downstream_gene_variant SKCA-BR 11 34193942 34193942 single base substitution A T intron_variant SKCA-BR 11 34194122 34194122 single base substitution G A downstream_gene_variant SKCA-BR 11 34194122 34194122 single base substitution G A intron_variant SKCA-BR 11 34195871 34195883 deletion of <=200bp CAAAAAAAAAAAA - intron_variant SKCA-BR 11 34196634 34196634 single base substitution C T intron_variant SKCA-BR 11 34201285 34201285 single base substitution C A intron_variant SKCA-BR 11 34203359 34203359 single base substitution G A intron_variant SKCA-BR 11 34207526 34207526 single base substitution A T intron_variant SKCA-BR 11 34211818 34211818 insertion of <=200bp - CCA intron_variant SKCA-BR 11 34211819 34211819 insertion of <=200bp - CA intron_variant SKCA-BR 11 34211821 34211821 single base substitution A C intron_variant SKCA-BR 11 34211987 34211987 single base substitution T G intron_variant SKCA-BR 11 34212107 34212107 single base substitution A T intron_variant SKCA-BR 11 34214473 34214473 single base substitution G A intron_variant SKCA-BR 11 34219043 34219043 single base substitution T G exon_variant SKCA-BR 11 34219043 34219043 single base substitution T G missense_variant H172P 515A>C SKCA-BR 11 34219043 34219043 single base substitution T G missense_variant H358P 1073A>C SKCA-BR 11 34219998 34219998 insertion of <=200bp - CA intron_variant SKCA-BR 11 34229304 34229304 single base substitution T A intron_variant SKCA-BR 11 34230034 34230034 single base substitution C G intron_variant SKCA-BR 11 34234136 34234136 single base substitution C T intron_variant SKCA-BR 11 34236102 34236104 deletion of <=200bp TTA - intron_variant SKCA-BR 11 34246889 34246889 single base substitution A C intron_variant SKCA-BR 11 34252733 34252733 single base substitution C G intron_variant SKCA-BR 11 34253996 34253996 insertion of <=200bp - CA intron_variant SKCA-BR 11 34254160 34254160 single base substitution A G intron_variant SKCA-BR 11 34256132 34256132 single base substitution A C intron_variant SKCA-BR 11 34257132 34257132 single base substitution G A intron_variant SKCA-BR 11 34261876 34261876 single base substitution G A intron_variant SKCA-BR 11 34262961 34262961 single base substitution C T intron_variant SKCA-BR 11 34263177 34263177 single base substitution G A intron_variant SKCA-BR 11 34270792 34270792 single base substitution A G intron_variant SKCA-BR 11 34276099 34276099 single base substitution G A intron_variant SKCA-BR 11 34277806 34277806 single base substitution A C intron_variant SKCA-BR 11 34277813 34277813 single base substitution G C intron_variant SKCA-BR 11 34282668 34282668 single base substitution T C intron_variant SKCA-BR 11 34284473 34284473 single base substitution G A intron_variant SKCA-BR 11 34288804 34288804 single base substitution G A intron_variant SKCA-BR 11 34294820 34294820 single base substitution C T intron_variant SKCA-BR 11 34295362 34295362 single base substitution G A intron_variant SKCA-BR 11 34296057 34296057 single base substitution C T intron_variant SKCA-BR 11 34298858 34298858 single base substitution A G intron_variant SKCA-BR 11 34299346 34299347 deletion of <=200bp CT - intron_variant SKCA-BR 11 34299348 34299348 single base substitution T C intron_variant SKCA-BR 11 34299495 34299495 single base substitution G A intron_variant SKCA-BR 11 34301517 34301517 single base substitution A C intron_variant SKCA-BR 11 34303371 34303371 single base substitution T A intron_variant SKCA-BR 11 34304134 34304134 single base substitution C T intron_variant SKCA-BR 11 34306747 34306747 single base substitution G A intron_variant SKCA-BR 11 34308732 34308732 insertion of <=200bp - GA intron_variant SKCA-BR 11 34311101 34311101 single base substitution G A intron_variant SKCA-BR 11 34312928 34312928 single base substitution G C intron_variant SKCA-BR 11 34313484 34313484 single base substitution C T intron_variant SKCA-BR 11 34314954 34314954 single base substitution G A intron_variant SKCA-BR 11 34314955 34314955 single base substitution G A intron_variant SKCA-BR 11 34319328 34319328 single base substitution A T intron_variant SKCA-BR 11 34319332 34319332 single base substitution T A intron_variant SKCA-BR 11 34319338 34319338 single base substitution T C intron_variant SKCA-BR 11 34319342 34319342 single base substitution G A intron_variant SKCA-BR 11 34319343 34319343 single base substitution G T intron_variant SKCA-BR 11 34324297 34324297 single base substitution C T intron_variant SKCA-BR 11 34325122 34325122 insertion of <=200bp - GAA intron_variant SKCA-BR 11 34325122 34325122 insertion of <=200bp - GA intron_variant SKCA-BR 11 34328448 34328448 single base substitution C T intron_variant SKCA-BR 11 34328552 34328552 single base substitution G A intron_variant SKCA-BR 11 34329104 34329104 single base substitution T G intron_variant SKCA-BR 11 34329359 34329359 single base substitution C T intron_variant SKCA-BR 11 34329360 34329360 single base substitution C T intron_variant SKCA-BR 11 34331201 34331201 single base substitution G A intron_variant SKCA-BR 11 34332932 34332932 single base substitution A G intron_variant SKCA-BR 11 34343874 34343874 single base substitution G A intron_variant SKCA-BR 11 34347424 34347424 single base substitution G A intron_variant SKCA-BR 11 34347497 34347502 deletion of <=200bp AAAAAT - intron_variant SKCA-BR 11 34347930 34347930 single base substitution G C intron_variant SKCA-BR 11 34350975 34350975 single base substitution C T intron_variant SKCA-BR 11 34355547 34355547 single base substitution G A intron_variant SKCA-BR 11 34358572 34358572 single base substitution T C intron_variant SKCA-BR 11 34359077 34359077 single base substitution G A intron_variant SKCA-BR 11 34361590 34361590 insertion of <=200bp - CCAAACAAA intron_variant SKCA-BR 11 34365005 34365007 deletion of <=200bp GAC - intron_variant SKCA-BR 11 34365602 34365602 single base substitution G A intron_variant SKCA-BR 11 34366559 34366559 single base substitution T G intron_variant SKCA-BR 11 34367056 34367056 single base substitution T C intron_variant SKCA-BR 11 34367077 34367077 single base substitution T C intron_variant SKCA-BR 11 34368750 34368750 single base substitution C T intron_variant SKCA-BR 11 34368912 34368912 single base substitution G A intron_variant SKCA-BR 11 34368913 34368913 single base substitution G A intron_variant SKCA-BR 11 34371539 34371539 single base substitution G A intron_variant SKCA-BR 11 34372401 34372401 single base substitution G A intron_variant SKCA-BR 11 34372402 34372402 single base substitution G A intron_variant SKCA-BR 11 34373560 34373560 single base substitution G A intron_variant SKCA-BR 11 34379503 34379503 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCA-BR 11 34379503 34379503 single base substitution G A upstream_gene_variant SKCA-BR 11 34383305 34383305 single base substitution G A upstream_gene_variant SKCM-US 11 34180931 34180931 single base substitution A T missense_variant F684Y 2051T>A SKCM-US 11 34180931 34180931 single base substitution A T missense_variant F870Y 2609T>A SKCM-US 11 34181501 34181501 single base substitution C T missense_variant G667E 2000G>A SKCM-US 11 34181501 34181501 single base substitution C T missense_variant G853E 2558G>A SKCM-US 11 34181535 34181535 single base substitution T C missense_variant K656E 1966A>G SKCM-US 11 34181535 34181535 single base substitution T C missense_variant K842E 2524A>G SKCM-US 11 34181823 34181823 single base substitution C T synonymous_variant E639E 1917G>A SKCM-US 11 34181823 34181823 single base substitution C T synonymous_variant E825E 2475G>A SKCM-US 11 34184209 34184209 single base substitution C T missense_variant R525Q 1574G>A SKCM-US 11 34184209 34184209 single base substitution C T missense_variant R711Q 2132G>A SKCM-US 11 34184278 34184278 single base substitution G A missense_variant A502V 1505C>T SKCM-US 11 34184278 34184278 single base substitution G A missense_variant A688V 2063C>T SKCM-US 11 34192558 34192558 single base substitution G A downstream_gene_variant SKCM-US 11 34192558 34192558 single base substitution G A synonymous_variant F300F 900C>T SKCM-US 11 34192558 34192558 single base substitution G A synonymous_variant F486F 1458C>T SKCM-US 11 34194758 34194758 single base substitution G A exon_variant SKCM-US 11 34194758 34194758 single base substitution G A synonymous_variant I261I 783C>T SKCM-US 11 34194758 34194758 single base substitution G A synonymous_variant I447I 1341C>T SKCM-US 11 34218898 34218898 single base substitution G A exon_variant SKCM-US 11 34218898 34218898 single base substitution G A synonymous_variant P220P 660C>T SKCM-US 11 34218898 34218898 single base substitution G A synonymous_variant P406P 1218C>T SKCM-US 11 34226129 34226129 single base substitution G A exon_variant SKCM-US 11 34226129 34226129 single base substitution G A missense_variant S145F 434C>T SKCM-US 11 34226129 34226129 single base substitution G A missense_variant S331F 992C>T SKCM-US 11 34226192 34226192 single base substitution G A exon_variant SKCM-US 11 34226192 34226192 single base substitution G A missense_variant S124F 371C>T SKCM-US 11 34226192 34226192 single base substitution G A missense_variant S310F 929C>T STAD-US 11 34180846 34180846 deletion of <=200bp A - frameshift_variant F712 STAD-US 11 34180846 34180846 deletion of <=200bp A - frameshift_variant F898 STAD-US 11 34181842 34181842 single base substitution G T missense_variant P633H 1898C>A STAD-US 11 34181842 34181842 single base substitution G T missense_variant P819H 2456C>A STAD-US 11 34182568 34182568 single base substitution C T missense_variant R574Q 1721G>A STAD-US 11 34182568 34182568 single base substitution C T missense_variant R760Q 2279G>A STAD-US 11 34184328 34184328 single base substitution C T synonymous_variant T485T 1455G>A STAD-US 11 34184328 34184328 single base substitution C T synonymous_variant T671T 2013G>A STAD-US 11 34194790 34194790 single base substitution G A exon_variant STAD-US 11 34194790 34194790 single base substitution G A missense_variant R251C 751C>T STAD-US 11 34194790 34194790 single base substitution G A missense_variant R437C 1309C>T STAD-US 11 34218942 34218942 single base substitution G A exon_variant STAD-US 11 34218942 34218942 single base substitution G A missense_variant R206W 616C>T STAD-US 11 34218942 34218942 single base substitution G A missense_variant R392W 1174C>T STAD-US 11 34218969 34218969 single base substitution C T exon_variant STAD-US 11 34218969 34218969 single base substitution C T missense_variant A197T 589G>A STAD-US 11 34218969 34218969 single base substitution C T missense_variant A383T 1147G>A STAD-US 11 34378361 34378361 single base substitution G A missense_variant A257V 770C>T STAD-US 11 34378361 34378361 single base substitution G A missense_variant A71V 212C>T THCA-SA 11 34174106 34174106 insertion of <=200bp - T frameshift_variant L783L? THCA-SA 11 34174106 34174106 insertion of <=200bp - T frameshift_variant L969L? UCEC-US 11 34167693 34167693 single base substitution G T downstream_gene_variant UCEC-US 11 34167729 34167729 single base substitution G A downstream_gene_variant UCEC-US 11 34173941 34173941 single base substitution C T missense_variant R1024Q 3071G>A UCEC-US 11 34173941 34173941 single base substitution C T missense_variant R838Q 2513G>A UCEC-US 11 34180875 34180875 single base substitution C T missense_variant E703K 2107G>A UCEC-US 11 34180875 34180875 single base substitution C T missense_variant E889K 2665G>A UCEC-US 11 34182571 34182571 single base substitution G A missense_variant S573L 1718C>T UCEC-US 11 34182571 34182571 single base substitution G A missense_variant S759L 2276C>T UCEC-US 11 34184222 34184222 single base substitution C T missense_variant V521M 1561G>A UCEC-US 11 34184222 34184222 single base substitution C T missense_variant V707M 2119G>A UCEC-US 11 34184250 34184250 single base substitution C T synonymous_variant S511S 1533G>A UCEC-US 11 34184250 34184250 single base substitution C T synonymous_variant S697S 2091G>A UCEC-US 11 34184303 34184303 single base substitution C T missense_variant V494M 1480G>A UCEC-US 11 34184303 34184303 single base substitution C T missense_variant V680M 2038G>A UCEC-US 11 34186275 34186275 single base substitution T C missense_variant E463G 1388A>G UCEC-US 11 34186275 34186275 single base substitution T C missense_variant E649G 1946A>G UCEC-US 11 34226142 34226142 single base substitution T C exon_variant UCEC-US 11 34226142 34226142 single base substitution T C missense_variant T141A 421A>G UCEC-US 11 34226142 34226142 single base substitution T C missense_variant T327A 979A>G UCEC-US 11 34378308 34378308 single base substitution C T missense_variant A275T 823G>A UCEC-US 11 34378308 34378308 single base substitution C T missense_variant A89T 265G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 587256 COSM1197861 c.2302C>A p.L768M Substitution - Missense 11:34160998-34160998 - S0033 COSM5882066 c.1297A>T p.N433Y Substitution - Missense 11:34164819-34164819 - TCGA-AA-3713-01 COSM1353651 c.2332_2334delGAG p.E778delE Deletion - In frame 11:34160966-34160968 - TCGA-D8-A1JA-01 COSM3809145 c.1412C>G p.S471* Substitution - Nonsense 11:34164704-34164704 - 49M COSM5589510 c.899C>T p.P300L Substitution - Missense 11:34204675-34204675 - YUKLAB COSM1703805 c.1045G>A p.E349K Substitution - Missense 11:34167953-34167953 - CPCG0103-P8 COSM3396015 c.724C>T p.R242C Substitution - Missense 11:34173270-34173270 - RK308_C01 COSM3739038 c.1291G>A p.A431T Substitution - Missense 11:34165263-34165263 - TCGA-D3-A5GN-06 COSM3446960 c.929C>T p.S310F Substitution - Missense 11:34204645-34204645 - 1_RESISTANT COSM1717925 c.1372C>T p.L458L Substitution - coding silent 11:34173180-34173180 - TCGA-A5-A0VP-01 COSM1585736 c.1946A>G p.E649G Substitution - Missense 11:34164728-34164728 - TCGA-GV-A3JX-01 COSM1297996 c.2600C>G p.S867C Substitution - Missense 11:34159912-34159912 - RK308_C01 COSM3739037 c.1849G>A p.A617T Substitution - Missense 11:34165263-34165263 - T3064 COSM4658640 c.1355G>T p.R452L Substitution - Missense 11:34173197-34173197 - TCGA-Q1-A73O-01 COSM4835407 c.813C>G p.I271M Substitution - Missense 11:34356771-34356771 - S02297 COSM5701416 c.1914_1915insAG p.E639fs*14 Insertion - Frameshift 11:34164759-34164760 - CSCC-35-T COSM4481650 c.252C>T p.L84L Substitution - coding silent 11:34357332-34357332 - SCC-25 COSM4596379 c.370T>G p.S124A Substitution - Missense 11:34204646-34204646 - LUAD-S01478 COSM399629 c.515A>C p.H172P Substitution - Missense 11:34197496-34197496 - LAU50_1 COSM234345 c.861C>T p.S287S Substitution - coding silent 11:34171050-34171050 - YUKLAB COSM1703804 c.1603G>A p.E535K Substitution - Missense 11:34167953-34167953 - CRC-19T COSM5482361 c.2488delG p.V830fs*>10 Deletion - Frameshift 11:34152419-34152419 - SNU-175 COSM2115573 c.2087C>T p.A696V Substitution - Missense 11:34162707-34162707 - TCGA-BR-6852-01 COSM4032524 c.1147G>A p.A383T Substitution - Missense 11:34197422-34197422 - OSCC-GB_00020111 COSM3710067 c.1344C>G p.L448L Substitution - coding silent 11:34164772-34164772 - TCGA-E9-A1RA-01 COSM3809143 c.2461G>A p.D821N Substitution - Missense 11:34152446-34152446 - CPCG0103-P8 COSM3396014 c.1282C>T p.R428C Substitution - Missense 11:34173270-34173270 - T10 COSM5617743 c.584G>T p.R195L Substitution - Missense 11:34357000-34357000 - BCM529T COSM4802658 c.1563+1G>T p.? Unknown 11:34170905-34170905 - 587284 COSM1197859 c.1495A>G p.R499G Substitution - Missense 11:34170974-34170974 - OSCC-GB_01040111 COSM4886116 c.1798G>A p.E600K Substitution - Missense 11:34160944-34160944 - TCGA-D3-A5GN-06 COSM3446961 c.371C>T p.S124F Substitution - Missense 11:34204645-34204645 - Pat_41_B COSM5838469 c.64G>A p.G22S Substitution - Missense 11:34356962-34356962 - TCGA-AP-A0LM-01 COSM926623 c.1480G>A p.V494M Substitution - Missense 11:34162756-34162756 - TCGA-EE-A3JD-06 COSM4394341 c.900C>T p.F300F Substitution - coding silent 11:34171011-34171011 - 61 COSM5739213 c.929A>G p.N310S Substitution - Missense 11:34170982-34170982 - 2T COSM3710066 c.1902C>G p.L634L Substitution - coding silent 11:34164772-34164772 - TCGA-EJ-A46D-01 COSM3782615 c.1911G>T p.M637I Substitution - Missense 11:34164763-34164763 - TCGA-DK-A3X1-01 COSM3791459 c.1065G>T p.L355F Substitution - Missense 11:34167933-34167933 - NB-1659 COSM1283203 c.1382T>C p.L461P Substitution - Missense 11:34164734-34164734 - pfg068T COSM4752558 c.1790C>T p.S597L Substitution - Missense 11:34165322-34165322 - SNU-175 COSM2115566 c.1614C>T p.S538S Substitution - coding silent 11:34162622-34162622 - TCGA-EB-A4IS-01 COSM3446955 c.1505C>T p.A502V Substitution - Missense 11:34162731-34162731 - CHC2103T COSM4952588 c.2897A>G p.E966G Substitution - Missense 11:34152568-34152568 - 02-P170 COSM4574338 c.777C>G p.G259G Substitution - coding silent 11:34356807-34356807 - C008 COSM5522021 c.2089G>A p.D697N Substitution - Missense 11:34159346-34159346 - BCM529T COSM4802659 c.1005+1G>T p.? Unknown 11:34170905-34170905 - BD72T COSM4752559 c.1232C>T p.S411L Substitution - Missense 11:34165322-34165322 - T3724 COSM4658633 c.2378T>C p.M793T Substitution - Missense 11:34152529-34152529 - TCGA-A3-3349-01 COSM3359170 c.2905C>A p.L969M Substitution - Missense 11:34152560-34152560 - PT36 COSM5916001 c.1016C>T p.P339L Substitution - Missense 11:34167982-34167982 - TCGA-EJ-A46D-01 COSM3782616 c.1353G>T p.M451I Substitution - Missense 11:34164763-34164763 - HCC105T COSM5818454 c.1316G>A p.S439N Substitution - Missense 11:34173236-34173236 - LUAD-CHTN-3090346 COSM356697 c.1506C>T p.A502A Substitution - coding silent 11:34162730-34162730 - TCGA-BR-8680-01 COSM4032520 c.2013G>A p.T671T Substitution - coding silent 11:34162781-34162781 - OSCC-GB_00650111 COSM4890528 c.2780C>A p.A927D Substitution - Missense 11:34154365-34154365 - TCGA-AA-3713-01 COSM1353652 c.1774_1776delGAG p.E592delE Deletion - In frame 11:34160966-34160968 - PCSI_0083_Pa_X COSM3375784 c.941C>T p.T314M Substitution - Missense 11:34170970-34170970 - T3724 COSM4658636 c.2453G>A p.S818N Substitution - Missense 11:34160298-34160298 - BCM529T COSM4802658 c.1563+1G>T p.? Unknown 11:34170905-34170905 - K44 COSM249251 c.1975T>G p.S659A Substitution - Missense 11:34159979-34159979 - 2T COSM3359173 c.2230T>A p.F744I Substitution - Missense 11:34154357-34154357 - 20T COSM3710171 c.2248G>A p.E750K Substitution - Missense 11:34161052-34161052 - BK0059 COSM4188341 c.1615G>A p.A539T Substitution - Missense 11:34162621-34162621 - ESCC_BICR_029T COSM5443399 c.560C>T p.P187L Substitution - Missense 11:34197451-34197451 - TCGA-D3-A1Q6-06 COSM3446949 c.2000G>A p.G667E Substitution - Missense 11:34159954-34159954 - TCGA-B5-A0K9-01 COSM4869851 c.979A>G p.T327A Substitution - Missense 11:34204595-34204595 - TCGA-AN-A046-01 COSM3809146 c.820G>A p.D274N Substitution - Missense 11:34356764-34356764 - TCGA-EB-A4IS-01 COSM3446954 c.2063C>T p.A688V Substitution - Missense 11:34162731-34162731 - TCGA-A8-A06Q-01 COSM428939 c.1819G>A p.D607N Substitution - Missense 11:34160923-34160923 - 1_RESISTANT COSM1717926 c.814C>T p.L272L Substitution - coding silent 11:34173180-34173180 - RKO COSM2115625 c.1045C>T p.R349C Substitution - Missense 11:34197524-34197524 - pfg068T COSM4752559 c.1232C>T p.S411L Substitution - Missense 11:34165322-34165322 - 20T COSM3710172 c.1690G>A p.E564K Substitution - Missense 11:34161052-34161052 - 587376 COSM1197860 c.2630A>C p.K877T Substitution - Missense 11:34159363-34159363 - B89-4-Tumor COSM1746220 c.2064G>A p.M688I Substitution - Missense 11:34159371-34159371 - TCGA-AP-A0LM-01 COSM926620 c.1718C>T p.S573L Substitution - Missense 11:34161024-34161024 - HCT15 COSM1675938 c.2716T>C p.Y906H Substitution - Missense 11:34154751-34154751 - T3610 COSM4658638 c.2110G>A p.E704K Substitution - Missense 11:34162684-34162684 - TCGA-DD-A4NO-01 COSM4912902 c.1017A>C p.P339P Substitution - coding silent 11:34167981-34167981 - NPC29F COSM4994970 c.1525G>C p.D509H Substitution - Missense 11:34162711-34162711 - TCGA-D1-A0ZO-01 COSM4868268 c.3071G>A p.R1024Q Substitution - Missense 11:34152394-34152394 - TCGA-EE-A2M6-06 COSM3446950 c.2524A>G p.K842E Substitution - Missense 11:34159988-34159988 - CSCC-7-T COSM4467194 c.918C>T p.F306F Substitution - coding silent 11:34170993-34170993 - K44-Tumor COSM249251 c.1975T>G p.S659A Substitution - Missense 11:34159979-34159979 - PD24205a COSM5796670 c.870C>G p.G290G Substitution - coding silent 11:34356714-34356714 - 02-P170 COSM4574339 c.219C>G p.G73G Substitution - coding silent 11:34356807-34356807 - OSCC-GB_00650111 COSM4890406 c.1635C>T p.D545D Substitution - coding silent 11:34162601-34162601 - LIM2405 COSM4641454 c.1262C>T p.P421L Substitution - Missense 11:34173290-34173290 - TCGA-EK-A2RO-01 COSM1703805 c.1045G>A p.E349K Substitution - Missense 11:34167953-34167953 - HCC121T COSM1604504 c.1826C>T p.T609M Substitution - Missense 11:34165286-34165286 - RKO COSM2115626 c.487C>T p.R163C Substitution - Missense 11:34197524-34197524 - RK010_C COSM1627955 c.1472G>A p.G491D Substitution - Missense 11:34170997-34170997 - TCGA-A8-A06Q-01 COSM4814945 c.2377G>A p.D793N Substitution - Missense 11:34160923-34160923 - TCGA-DS-A1OC-01 COSM1293373 c.1182C>G p.H394Q Substitution - Missense 11:34167274-34167274 - TCGA-BF-A1PZ-01 COSM4399418 c.1574G>A p.R525Q Substitution - Missense 11:34162662-34162662 - PD7305a COSM2115611 c.1285G>A p.V429M Substitution - Missense 11:34173267-34173267 - TCGA-HT-A617-01 COSM4420762 c.1572C>T p.S524S Substitution - coding silent 11:34162664-34162664 - TCGA-FW-A3R5-06 COSM3869108 c.1218C>T p.P406P Substitution - coding silent 11:34197351-34197351 - TCGA-G4-6320-01 COSM3687277 c.2448C>T p.G816G Substitution - coding silent 11:34160303-34160303 - TCGA-BR-4362-01 COSM4032516 c.2456C>A p.P819H Substitution - Missense 11:34160295-34160295 - LUAD-NYU201 COSM371260 c.512G>A p.R171H Substitution - Missense 11:34197499-34197499 - Gp2D COSM2115552 c.2387T>C p.L796P Substitution - Missense 11:34152520-34152520 - CSCC-6-T COSM4465515 c.829C>T p.R277W Substitution - Missense 11:34173165-34173165 - TCGA-D8-A1JC-01 COSM1475394 c.1398-1G>A p.? Unknown 11:34171072-34171072 - CHEWS028 COSM4574336 c.927G>T p.G309G Substitution - coding silent 11:34204647-34204647 - TCGA-CJ-5675-01 COSM466767 c.2243C>T p.A748V Substitution - Missense 11:34154344-34154344 - LS411 COSM4646343 c.545G>A p.R182H Substitution - Missense 11:34197466-34197466 - PD7305a COSM2115612 c.727G>A p.V243M Substitution - Missense 11:34173267-34173267 - TCGA-HT-A617-01 COSM4420761 c.2130C>T p.S710S Substitution - coding silent 11:34162664-34162664 - Pat_63_B COSM5838467 c.139G>A p.A47T Substitution - Missense 11:34356887-34356887 - PD4137a COSM158834 c.2332G>T p.A778S Substitution - Missense 11:34152575-34152575 - SNU-283 COSM2115598 c.927C>T p.L309L Substitution - coding silent 11:34170984-34170984 - TCGA-G4-6309-01 COSM1353653 c.2104G>T p.G702C Substitution - Missense 11:34162690-34162690 - PT34 COSM5910718 c.2167G>A p.G723R Substitution - Missense 11:34154742-34154742 - BK0059 COSM4188340 c.2173G>A p.A725T Substitution - Missense 11:34162621-34162621 - C086 COSM5526118 c.1981G>A p.G661S Substitution - Missense 11:34164693-34164693 - SMYM-PRGP COSM3727640 c.2164G>A p.G722R Substitution - Missense 11:34154745-34154745 - 385 COSM4426828 c.2973C>G p.L991L Substitution - coding silent 11:34152492-34152492 - LIM2551 COSM4643534 c.1086G>A p.P362P Substitution - coding silent 11:34197483-34197483 - TCGA-BR-4362-01 COSM4032517 c.1898C>A p.P633H Substitution - Missense 11:34160295-34160295 - T2197 COSM4658634 c.2651G>T p.S884I Substitution - Missense 11:34159342-34159342 - CSCC-29-T COSM4562791 c.943G>A p.E315K Substitution - Missense 11:34204631-34204631 - PT27 COSM5905829 c.1431-6C>T p.? Unknown 11:34162811-34162811 - NOKSI COSM4596378 c.928T>G p.S310A Substitution - Missense 11:34204646-34204646 - DN110DC COSM2115611 c.1285G>A p.V429M Substitution - Missense 11:34173267-34173267 - T2197 COSM4658635 c.2093G>T p.S698I Substitution - Missense 11:34159342-34159342 - TCGA-BR-4361-01 COSM2115608 c.751C>T p.R251C Substitution - Missense 11:34173243-34173243 - TCGA-Q1-A73O-01 COSM4835408 c.255C>G p.I85M Substitution - Missense 11:34356771-34356771 - I2L-P7-Tumor-Organoid COSM5361115 c.530C>T p.A177V Substitution - Missense 11:34357054-34357054 - BCM567T COSM4955497 c.2010T>C p.F670F Substitution - coding silent 11:34159944-34159944 - CRC-03T COSM5451134 c.354C>T p.S118S Substitution - coding silent 11:34204662-34204662 - SJOS001106_D1 COSM5023516 c.1599G>T p.G533G Substitution - coding silent 11:34167957-34167957 - A8 COSM1353649 c.2664C>T p.I888I Substitution - coding silent 11:34159329-34159329 - OSCC-GB_01040111 COSM4886115 c.2356G>A p.E786K Substitution - Missense 11:34160944-34160944 - TCGA-22-5491-01 COSM687454 c.2129A>G p.H710R Substitution - Missense 11:34159306-34159306 - PD4137a COSM4809746 c.2890G>T p.A964S Substitution - Missense 11:34152575-34152575 - B89-4-Tumor COSM1746219 c.2622G>A p.M874I Substitution - Missense 11:34159371-34159371 - TCGA-D1-A17Q-01 COSM1585740 c.2665G>A p.E889K Substitution - Missense 11:34159328-34159328 - LC_C33 COSM1188205 c.377G>A p.R126K Substitution - Missense 11:34357207-34357207 - SJOS001106_D1 COSM5023517 c.1041G>T p.G347G Substitution - coding silent 11:34167957-34167957 - K44-Tumor COSM4149599 c.2533T>G p.S845A Substitution - Missense 11:34159979-34159979 - TCGA-CK-5916-01 COSM3687047 c.232G>A p.A78T Substitution - Missense 11:34356794-34356794 - SF268 COSM1675940 c.1787G>A p.G596D Substitution - Missense 11:34165325-34165325 - PARAKF COSM5005396 c.921C>T p.N307N Substitution - coding silent 11:34204653-34204653 - TCGA-B5-A0JY-01 COSM926622 c.1533G>A p.S511S Substitution - coding silent 11:34162703-34162703 - PD23574a COSM5771253 c.2053G>A p.E685K Substitution - Missense 11:34162741-34162741 - HCC121T COSM1604505 c.1268C>T p.T423M Substitution - Missense 11:34165286-34165286 - RK267_C01 COSM4946398 c.1834C>T p.Q612* Substitution - Nonsense 11:34165278-34165278 - S0033 COSM5882065 c.1855A>T p.N619Y Substitution - Missense 11:34164819-34164819 - T3724 COSM4658643 c.139G>T p.A47S Substitution - Missense 11:34356887-34356887 - TCGA-D3-A1Q6-06 COSM3446948 c.2558G>A p.G853E Substitution - Missense 11:34159954-34159954 - TCGA-ER-A2NC-06 COSM3446959 c.434C>T p.S145F Substitution - Missense 11:34204582-34204582 - TCGA-EE-A3JI-06 COSM3446952 c.2475G>A p.E825E Substitution - coding silent 11:34160276-34160276 - RK010_C COSM1627956 c.914G>A p.G305D Substitution - Missense 11:34170997-34170997 - C086 COSM5526119 c.1423G>A p.G475S Substitution - Missense 11:34164693-34164693 - TCGA-34-5928-01 COSM1646416 c.560T>A p.M187K Substitution - Missense 11:34357024-34357024 - TCGA-HU-A4GF-01 COSM4032518 c.2279G>A p.R760Q Substitution - Missense 11:34161021-34161021 - HCC121 COSM1604505 c.1268C>T p.T423M Substitution - Missense 11:34165286-34165286 - LIM2551 COSM4643535 c.528G>A p.P176P Substitution - coding silent 11:34197483-34197483 - 2P3 COSM3359173 c.2230T>A p.F744I Substitution - Missense 11:34154357-34154357 - SC_9047 COSM5553615 c.1809G>T p.E603D Substitution - Missense 11:34165303-34165303 - TCGA-C4-A0EZ-01 COSM415619 c.1797C>T p.T599T Substitution - coding silent 11:34160945-34160945 - T3724 COSM4658637 c.1895G>A p.S632N Substitution - Missense 11:34160298-34160298 - PD24205a COSM5796671 c.312C>G p.G104G Substitution - coding silent 11:34356714-34356714 - OSCC-GB_00580111 COSM4886523 c.1620G>T p.E540D Substitution - Missense 11:34162616-34162616 - TCGA-EE-A3JI-06 COSM3446953 c.1917G>A p.E639E Substitution - coding silent 11:34160276-34160276 - TCGA-D8-A1JC-01 COSM1475395 c.840-1G>A p.? Unknown 11:34171072-34171072 - OSCC-GB_00580111 COSM4886522 c.2178G>T p.E726D Substitution - Missense 11:34162616-34162616 - TCGA-FW-A3R5-06 COSM3869109 c.660C>T p.P220P Substitution - coding silent 11:34197351-34197351 - UPCI:SCC090 COSM4596379 c.370T>G p.S124A Substitution - Missense 11:34204646-34204646 - Pat_76_A COSM5838465 c.1727C>T p.S576L Substitution - Missense 11:34161015-34161015 - GHE0645 COSM5714570 c.71T>G p.F24C Substitution - Missense 11:34356955-34356955 - DN110DC COSM2115612 c.727G>A p.V243M Substitution - Missense 11:34173267-34173267 - SC_9047 COSM5553616 c.1251G>T p.E417D Substitution - Missense 11:34165303-34165303 - 587228 COSM1197857 c.3044G>A p.R1015H Substitution - Missense 11:34152421-34152421 - HT115 COSM1585739 c.2276C>T p.S759L Substitution - Missense 11:34161024-34161024 - PT27 COSM5905828 c.1989-6C>T p.? Unknown 11:34162811-34162811 - HCC20 COSM1604502 c.3069C>A p.S1023S Substitution - coding silent 11:34152396-34152396 - 61 COSM5739212 c.1487A>G p.N496S Substitution - Missense 11:34170982-34170982 - TCGA-GV-A3JX-01 COSM1297997 c.2042C>G p.S681C Substitution - Missense 11:34159912-34159912 - PCSI_0083_Pa_P_526 COSM3375784 c.941C>T p.T314M Substitution - Missense 11:34170970-34170970 - PT36 COSM5916000 c.1574C>T p.P525L Substitution - Missense 11:34167982-34167982 - T3535 COSM1703805 c.1045G>A p.E349K Substitution - Missense 11:34167953-34167953 - HCC20T COSM1604502 c.3069C>A p.S1023S Substitution - coding silent 11:34152396-34152396 - PCSI_0083_Pa_P COSM3375783 c.1499C>T p.T500M Substitution - Missense 11:34170970-34170970 - TCGA-EE-A2GI-06 COSM3446957 c.783C>T p.I261I Substitution - coding silent 11:34173211-34173211 - SCC-25 COSM4596378 c.928T>G p.S310A Substitution - Missense 11:34204646-34204646 - ESCC_161 COSM5647539 c.946C>T p.R316* Substitution - Nonsense 11:34204628-34204628 - pfg122T COSM4752557 c.1610A>G p.Y537C Substitution - Missense 11:34162626-34162626 - TCGA-A3-3349-01 COSM3359171 c.2347C>A p.L783M Substitution - Missense 11:34152560-34152560 - Pat_63_B COSM5838466 c.697G>A p.A233T Substitution - Missense 11:34356887-34356887 - NPC29F COSM4994969 c.2083G>C p.D695H Substitution - Missense 11:34162711-34162711 - UPCI:SCC090 COSM4596378 c.928T>G p.S310A Substitution - Missense 11:34204646-34204646 - TCGA-FW-A3TU-06 COSM3446947 c.2051T>A p.F684Y Substitution - Missense 11:34159384-34159384 - T3724 COSM4658642 c.697G>T p.A233S Substitution - Missense 11:34356887-34356887 - LAU50_2 COSM234345 c.861C>T p.S287S Substitution - coding silent 11:34171050-34171050 - CA3 COSM1166209 c.1545T>G p.S515R Substitution - Missense 11:34162691-34162691 - TCGA-E1-5322-01 COSM3967475 c.2729C>T p.T910I Substitution - Missense 11:34154738-34154738 - HCC20 COSM1604503 c.2511C>A p.S837S Substitution - coding silent 11:34152396-34152396 - CSCC-6-T COSM4465514 c.1387C>T p.R463W Substitution - Missense 11:34173165-34173165 - HCT-15 COSM1675939 c.2158T>C p.Y720H Substitution - Missense 11:34154751-34154751 - C008 COSM5522020 c.2647G>A p.D883N Substitution - Missense 11:34159346-34159346 - ESO-184 COSM1244049 c.1962C>T p.N654N Substitution - coding silent 11:34159992-34159992 - SNU-283 COSM2115597 c.1485C>T p.L495L Substitution - coding silent 11:34170984-34170984 - cSCCP8 COSM140654 c.2091C>G p.D697E Substitution - Missense 11:34159344-34159344 - CHC2103T COSM4952589 c.2339A>G p.E780G Substitution - Missense 11:34152568-34152568 - S02297 COSM5701417 c.1356_1357insAG p.E453fs*14 Insertion - Frameshift 11:34164759-34164760 - TCGA-B0-4814-01 COSM3359173 c.2230T>A p.F744I Substitution - Missense 11:34154357-34154357 - OSCC-GB_00200111 COSM3710171 c.2248G>A p.E750K Substitution - Missense 11:34161052-34161052 - RK272_C01 COSM3700059 c.1585G>A p.A529T Substitution - Missense 11:34167971-34167971 - ESCC_BICR_029T COSM5443398 c.1118C>T p.P373L Substitution - Missense 11:34197451-34197451 - TCGA-D1-A17Q-01 COSM926619 c.2107G>A p.E703K Substitution - Missense 11:34159328-34159328 - TCGA-22-5491-01 COSM1646418 c.2687A>G p.H896R Substitution - Missense 11:34159306-34159306 - TCGA-EE-A2M6-06 COSM3446951 c.1966A>G p.K656E Substitution - Missense 11:34159988-34159988 - T3535 COSM1703804 c.1603G>A p.E535K Substitution - Missense 11:34167953-34167953 - Gp5D COSM2115560 c.1717T>C p.S573P Substitution - Missense 11:34161025-34161025 - SNU-175 COSM2115574 c.1529C>T p.A510V Substitution - Missense 11:34162707-34162707 - TCGA-BR-4184-01 COSM4032523 c.616C>T p.R206W Substitution - Missense 11:34197395-34197395 - TCGA-B5-A0JY-01 COSM1585735 c.823G>A p.A275T Substitution - Missense 11:34356761-34356761 - OSCC-GB_00650111 COSM4890405 c.2193C>T p.D731D Substitution - coding silent 11:34162601-34162601 - T10 COSM5617744 c.26G>T p.R9L Substitution - Missense 11:34357000-34357000 - TCGA-DI-A0WH-01 COSM926625 c.1179A>T p.G393G Substitution - coding silent 11:34167277-34167277 - RK267_C01 COSM4946399 c.1276C>T p.Q426* Substitution - Nonsense 11:34165278-34165278 - WSU-HN12 COSM4596379 c.370T>G p.S124A Substitution - Missense 11:34204646-34204646 - ESO-184 COSM1244048 c.2520C>T p.N840N Substitution - coding silent 11:34159992-34159992 - CSCC-7-T COSM4467193 c.1476C>T p.F492F Substitution - coding silent 11:34170993-34170993 - RK010_C01 COSM1627955 c.1472G>A p.G491D Substitution - Missense 11:34170997-34170997 - 2T COSM3359172 c.2788T>A p.F930I Substitution - Missense 11:34154357-34154357 - TCGA-AK-3450-01 COSM3359174 c.1970C>T p.S657L Substitution - Missense 11:34164704-34164704 - CRC-03T COSM5451133 c.912C>T p.S304S Substitution - coding silent 11:34204662-34204662 - PCSI_0083_Pa_P_526 COSM3375783 c.1499C>T p.T500M Substitution - Missense 11:34170970-34170970 - P-Thy001 COSM466767 c.2243C>T p.A748V Substitution - Missense 11:34154344-34154344 - 587256 COSM1181474 c.1744C>A p.L582M Substitution - Missense 11:34160998-34160998 - C086 COSM5526120 c.993C>T p.S331S Substitution - coding silent 11:34204581-34204581 - PARAKF COSM5005397 c.363C>T p.N121N Substitution - coding silent 11:34204653-34204653 - TCGA-G4-6588-01 COSM1353655 c.1546A>G p.N516D Substitution - Missense 11:34170923-34170923 - TCGA-HT-7601-01 COSM3967478 c.1720C>T p.R574W Substitution - Missense 11:34161022-34161022 - CHC2103T COSM4952588 c.2897A>G p.E966G Substitution - Missense 11:34152568-34152568 - PR-3036 COSM242762 c.2439G>T p.V813V Substitution - coding silent 11:34152468-34152468 - J88_T COSM3979594 c.2023C>A p.Q675K Substitution - Missense 11:34162771-34162771 - SC_9061 COSM5570207 c.1267A>T p.T423S Substitution - Missense 11:34165287-34165287 - RKO COSM4647312 c.563G>A p.S188N Substitution - Missense 11:34357021-34357021 - BCM529T COSM4802659 c.1005+1G>T p.? Unknown 11:34170905-34170905 - C086 COSM5526121 c.435C>T p.S145S Substitution - coding silent 11:34204581-34204581 - TCGA-EE-A3JD-06 COSM4394340 c.1458C>T p.F486F Substitution - coding silent 11:34171011-34171011 - 2T COSM3710067 c.1344C>G p.L448L Substitution - coding silent 11:34164772-34164772 - NB-1659 COSM1283202 c.1940T>C p.L647P Substitution - Missense 11:34164734-34164734 - LS411 COSM4646342 c.1103G>A p.R368H Substitution - Missense 11:34197466-34197466 - CSCC-11-T COSM4474720 c.1380C>T p.S460S Substitution - coding silent 11:34164736-34164736 - OSCC-GB_01290111 COSM5955266 c.494T>C p.V165A Substitution - Missense 11:34357090-34357090 - pfg122T COSM4752556 c.2168A>G p.Y723C Substitution - Missense 11:34162626-34162626 - BD49T COSM5498014 c.865C>T p.R289W Substitution - Missense 11:34171046-34171046 - SMYM-PRGP COSM3727639 c.2722G>A p.G908R Substitution - Missense 11:34154745-34154745 - 1_PRE-TREATMENT COSM1717925 c.1372C>T p.L458L Substitution - coding silent 11:34173180-34173180 - BD72T COSM4752558 c.1790C>T p.S597L Substitution - Missense 11:34165322-34165322 - 587228 COSM1197858 c.1843T>C p.S615P Substitution - Missense 11:34165269-34165269 - PCSI_0083_Pa_P COSM3375784 c.941C>T p.T314M Substitution - Missense 11:34170970-34170970 - TCGA-B0-4814-01 COSM3359172 c.2788T>A p.F930I Substitution - Missense 11:34154357-34154357 - B89-4 COSM1746220 c.2064G>A p.M688I Substitution - Missense 11:34159371-34159371 - TCGA-CD-A4MG-01 COSM4032527 c.212C>T p.A71V Substitution - Missense 11:34356814-34356814 - PTC_407 COSM5960404 c.2347_2348insA p.L783fs*4 Insertion - Frameshift 11:34152559-34152560 - TCGA-IZ-A6M8-01 COSM3986137 c.1070G>A p.R357H Substitution - Missense 11:34197499-34197499 - 96T COSM106407 c.943G>A p.D315N Substitution - Missense 11:34170968-34170968 - B89-4 COSM1746219 c.2622G>A p.M874I Substitution - Missense 11:34159371-34159371 - TCGA-CK-5916-01 COSM3687046 c.790G>A p.A264T Substitution - Missense 11:34356794-34356794 - OSCC-GB_00200111 COSM3710172 c.1690G>A p.E564K Substitution - Missense 11:34161052-34161052 - TCGA-G4-6309-01 COSM1353654 c.1546G>T p.G516C Substitution - Missense 11:34162690-34162690 - PT34 COSM5910717 c.2725G>A p.G909R Substitution - Missense 11:34154742-34154742 - TCGA-B5-A0JY-01 COSM1585738 c.2091G>A p.S697S Substitution - coding silent 11:34162703-34162703 - P-Thy001 COSM5094879 c.2801C>T p.A934V Substitution - Missense 11:34154344-34154344 - 385 COSM4426829 c.2415C>G p.L805L Substitution - coding silent 11:34152492-34152492 - CSCC-11-T COSM4474719 c.1938C>T p.S646S Substitution - coding silent 11:34164736-34164736 - SC_9061 COSM5570206 c.1825A>T p.T609S Substitution - Missense 11:34165287-34165287 - TCGA-A5-A0GN-01 COSM4870896 c.2119G>A p.V707M Substitution - Missense 11:34162675-34162675 - TCGA-BR-6852-01 COSM4032525 c.589G>A p.A197T Substitution - Missense 11:34197422-34197422 - SF268 COSM1675941 c.1229G>A p.G410D Substitution - Missense 11:34165325-34165325 - Gp5D COSM2115559 c.2275T>C p.S759P Substitution - Missense 11:34161025-34161025 - Gp2D COSM2115559 c.2275T>C p.S759P Substitution - Missense 11:34161025-34161025 - HT115 COSM926620 c.1718C>T p.S573L Substitution - Missense 11:34161024-34161024 - TCGA-DK-A3X1-01 COSM3791458 c.1623G>T p.L541F Substitution - Missense 11:34167933-34167933 - BCM567T COSM4955497 c.2010T>C p.F670F Substitution - coding silent 11:34159944-34159944 - TCGA-B0-4827-01 COSM3359176 c.757G>T p.D253Y Substitution - Missense 11:34356827-34356827 - T3610 COSM4658639 c.1552G>A p.E518K Substitution - Missense 11:34162684-34162684 - BCM567T COSM4955496 c.2568T>C p.F856F Substitution - coding silent 11:34159944-34159944 - J88_T COSM3979595 c.1465C>A p.Q489K Substitution - Missense 11:34162771-34162771 - BCM567T COSM4955496 c.2568T>C p.F856F Substitution - coding silent 11:34159944-34159944 - CHC2103T COSM4952589 c.2339A>G p.E780G Substitution - Missense 11:34152568-34152568 - AOCS-090-1-0 COSM2115590 c.1005+5G>A p.? Unknown 11:34170901-34170901 - BD49T COSM5498013 c.1423C>T p.R475W Substitution - Missense 11:34171046-34171046 - T3724 COSM4658632 c.2936T>C p.M979T Substitution - Missense 11:34152529-34152529 - OSCC-GB_00020111 COSM3710066 c.1902C>G p.L634L Substitution - coding silent 11:34164772-34164772 - TCGA-B0-4827-01 COSM3359177 c.199G>T p.D67Y Substitution - Missense 11:34356827-34356827 - C008 COSM5522023 c.2088G>A p.G696G Substitution - coding silent 11:34159347-34159347 - Gp2D COSM2115551 c.2945T>C p.L982P Substitution - Missense 11:34152520-34152520 - 587284 COSM1181472 c.937A>G p.R313G Substitution - Missense 11:34170974-34170974 - TCGA-A5-A0VP-01 COSM926624 c.1388A>G p.E463G Substitution - Missense 11:34164728-34164728 - 587376 COSM1181473 c.2072A>C p.K691T Substitution - Missense 11:34159363-34159363 - TCGA-BF-A1PZ-01 COSM4399417 c.2132G>A p.R711Q Substitution - Missense 11:34162662-34162662 - AOCS-090-1-0 COSM2115589 c.1563+5G>A p.? Unknown 11:34170901-34170901 - TCGA-CD-A4MG-01 COSM4032526 c.770C>T p.A257V Substitution - Missense 11:34356814-34356814 - OSCC-GB_00650111 COSM4890529 c.2222C>A p.A741D Substitution - Missense 11:34154365-34154365 - GHE0645 COSM5714569 c.629T>G p.F210C Substitution - Missense 11:34356955-34356955 - HCT15 COSM1675939 c.2158T>C p.Y720H Substitution - Missense 11:34154751-34154751 - pfg143T COSM4746953 c.74delT p.F25fs*36 Deletion - Frameshift 11:34356952-34356952 - C0017T COSM4165776 c.102C>T p.S34S Substitution - coding silent 11:34357482-34357482 - TCGA-EK-A2RO-01 COSM1703804 c.1603G>A p.E535K Substitution - Missense 11:34167953-34167953 - 4537_T COSM3979597 c.686+4G>T p.? Unknown 11:34197321-34197321 - ESCC_161 COSM5647540 c.388C>T p.R130* Substitution - Nonsense 11:34204628-34204628 - HCC121 COSM1604504 c.1826C>T p.T609M Substitution - Missense 11:34165286-34165286 - 2P3 COSM3359172 c.2788T>A p.F930I Substitution - Missense 11:34154357-34154357 - T3064 COSM4658641 c.797G>T p.R266L Substitution - Missense 11:34173197-34173197 - TCGA-FW-A3TU-06 COSM3446946 c.2609T>A p.F870Y Substitution - Missense 11:34159384-34159384 - TCGA-HT-7601-01 COSM3967477 c.2278C>T p.R760W Substitution - Missense 11:34161022-34161022 - TCGA-A5-A0GN-01 COSM926621 c.1561G>A p.V521M Substitution - Missense 11:34162675-34162675 - TCGA-IZ-A6M8-01 COSM371260 c.512G>A p.R171H Substitution - Missense 11:34197499-34197499 - Gp2D COSM2115560 c.1717T>C p.S573P Substitution - Missense 11:34161025-34161025 - pfg143T COSM4746952 c.632delT p.F211fs*36 Deletion - Frameshift 11:34356952-34356952 - TCGA-ER-A2NC-06 COSM3446958 c.992C>T p.S331F Substitution - Missense 11:34204582-34204582 - TCGA-DD-A4NO-01 COSM4912901 c.1575A>C p.P525P Substitution - coding silent 11:34167981-34167981 - C008 COSM5522022 c.2646G>A p.G882G Substitution - coding silent 11:34159347-34159347 - TCGA-22-5491-01 COSM1646417 c.954T>G p.D318E Substitution - Missense 11:34204620-34204620 - TCGA-GV-A3QI-01 COSM1297999 c.446C>T p.T149I Substitution - Missense 11:34204570-34204570 - TCGA-G4-6320-01 COSM3687278 c.1890C>T p.G630G Substitution - coding silent 11:34160303-34160303 - Pat_41_B COSM5838468 c.622G>A p.G208S Substitution - Missense 11:34356962-34356962 - TCGA-D1-A0ZO-01 COSM926618 c.2513G>A p.R838Q Substitution - Missense 11:34152394-34152394 - TCGA-E9-A1RA-01 COSM3809142 c.3019G>A p.D1007N Substitution - Missense 11:34152446-34152446 - TCGA-BR-8680-01 COSM4032521 c.1455G>A p.T485T Substitution - coding silent 11:34162781-34162781 - CRC-19T COSM5482360 c.3046delG p.V1016fs*>10 Deletion - Frameshift 11:34152419-34152419 - TCGA-34-5928-01 COSM687452 c.2T>A p.M1K Substitution - Missense 11:34357024-34357024 - TCGA-G4-6588-01 COSM1353656 c.988A>G p.N330D Substitution - Missense 11:34170923-34170923 - TCGA-HU-A4GF-01 COSM4032519 c.1721G>A p.R574Q Substitution - Missense 11:34161021-34161021 - PTC_407 COSM5960403 c.2905_2906insA p.L969fs*4 Insertion - Frameshift 11:34152559-34152560 - MD-146 COSM301615 c.1015_1016delCC p.P339fs*18 Deletion - Frameshift 11:34167982-34167983 - TCGA-CM-6162-01 COSM1353649 c.2664C>T p.I888I Substitution - coding silent 11:34159329-34159329 - HCT-15 COSM1675938 c.2716T>C p.Y906H Substitution - Missense 11:34154751-34154751 - 587228 COSM1181470 c.2486G>A p.R829H Substitution - Missense 11:34152421-34152421 - 49M COSM5589511 c.341C>T p.P114L Substitution - Missense 11:34204675-34204675 - TCGA-BR-4184-01 COSM4032522 c.1174C>T p.R392W Substitution - Missense 11:34197395-34197395 - CSCC-7-T COSM4569257 c.1063T>C p.L355L Substitution - coding silent 11:34167935-34167935 - TCGA-B5-A0JY-01 COSM926627 c.265G>A p.A89T Substitution - Missense 11:34356761-34356761 - CSCC-29-T COSM4562792 c.385G>A p.E129K Substitution - Missense 11:34204631-34204631 - 1_PRE-TREATMENT COSM1717926 c.814C>T p.L272L Substitution - coding silent 11:34173180-34173180 - TCGA-DS-A1OC-01 COSM1293372 c.1740C>G p.H580Q Substitution - Missense 11:34167274-34167274 - 4537_T COSM3979596 c.1244+4G>T p.? Unknown 11:34197321-34197321 - PT16_1 COSM5771254 c.1495G>A p.E499K Substitution - Missense 11:34162741-34162741 - WSU-HN12 COSM4596378 c.928T>G p.S310A Substitution - Missense 11:34204646-34204646 - TCGA-D8-A1JA-01 COSM3809144 c.1970C>G p.S657* Substitution - Nonsense 11:34164704-34164704 - NOKSI COSM4596379 c.370T>G p.S124A Substitution - Missense 11:34204646-34204646 - CHEWS028 COSM4574337 c.369G>T p.G123G Substitution - coding silent 11:34204647-34204647 - PCSI_0083_Pa_X COSM3375783 c.1499C>T p.T500M Substitution - Missense 11:34170970-34170970 - PT16_1 COSM5771253 c.2053G>A p.E685K Substitution - Missense 11:34162741-34162741 - AD24 COSM5966335 c.2321A>C p.K774T Substitution - Missense 11:34154266-34154266 - TCGA-22-5491-01 COSM687453 c.396T>G p.D132E Substitution - Missense 11:34204620-34204620 - TCGA-AP-A0LM-01 COSM1585737 c.2038G>A p.V680M Substitution - Missense 11:34162756-34162756 - TCGA-EE-A2GI-06 COSM3446956 c.1341C>T p.I447I Substitution - coding silent 11:34173211-34173211 - TCGA-AK-3450-01 COSM3359175 c.1412C>T p.S471L Substitution - Missense 11:34164704-34164704 - CSCC-7-T COSM4569256 c.1621T>C p.L541L Substitution - coding silent 11:34167935-34167935 - HCC105T COSM5818455 c.758G>A p.S253N Substitution - Missense 11:34173236-34173236 - OSCC-GB_01390111 COSM5954391 c.90C>T p.L30L Substitution - coding silent 11:34357494-34357494 - 587228 COSM1181471 c.1285T>C p.S429P Substitution - Missense 11:34165269-34165269 - HCC20T COSM1604503 c.2511C>A p.S837S Substitution - coding silent 11:34152396-34152396 - HCC61T COSM1604506 c.52_53insCAAG p.D18fs*141 Insertion - Frameshift 11:34357531-34357532 - LIM2405 COSM4641455 c.704C>T p.P235L Substitution - Missense 11:34173290-34173290 - PD23574a COSM5771254 c.1495G>A p.E499K Substitution - Missense 11:34162741-34162741 - TCGA-CM-6162-01 COSM1353650 c.2106C>T p.I702I Substitution - coding silent 11:34159329-34159329 - TCGA-B5-A0K9-01 COSM926626 c.421A>G p.T141A Substitution - Missense 11:34204595-34204595 - RK010_C01 COSM1627956 c.914G>A p.G305D Substitution - Missense 11:34170997-34170997 - 1604875 COSM141336 c.1921C>T p.R641W Substitution - Missense 11:34160272-34160272 - TCGA-E1-5322-01 COSM3967476 c.2171C>T p.T724I Substitution - Missense 11:34154738-34154738 - RKO COSM4647313 c.5G>A p.S2N Substitution - Missense 11:34357021-34357021 - SNU-175 COSM2115565 c.2172C>T p.S724S Substitution - coding silent 11:34162622-34162622 - 2492729 COSM5726340 c.1366C>T p.P456S Substitution - Missense 11:34173186-34173186 - ESCC_86 COSM5636529 c.77C>G p.S26W Substitution - Missense 11:34357507-34357507 - Br26X COSM39473 c.2259C>A p.C753* Substitution - Nonsense 11:34154328-34154328 - AD24 COSM5966334 c.2879A>C p.K960T Substitution - Missense 11:34154266-34154266 - TCGA-AN-A046-01 COSM3809147 c.262G>A p.D88N Substitution - Missense 11:34356764-34356764 - 2492729 COSM5726341 c.808C>T p.P270S Substitution - Missense 11:34173186-34173186 - A8 COSM1353650 c.2106C>T p.I702I Substitution - coding silent 11:34159329-34159329 - Pat_76_A COSM5838464 c.2285C>T p.S762L Substitution - Missense 11:34161015-34161015 - TCGA-AP-A0LM-01 COSM1585739 c.2276C>T p.S759L Substitution - Missense 11:34161024-34161024 - RK272_C01 COSM3700060 c.1027G>A p.A343T Substitution - Missense 11:34167971-34167971 - cSCCP7 COSM139885 c.2453C>T p.P818L Substitution - Missense 11:34152454-34152454 - TCGA-GV-A3QI-01 COSM1297998 c.1004C>T p.T335I Substitution - Missense 11:34204570-34204570 - TCGA-BR-4361-01 COSM2115607 c.1309C>T p.R437C Substitution - Missense 11:34173243-34173243 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.23361 11p13

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C 3-UTRSNV . c.3075+184T>G 11 34173753 PIA A C Missense p.D318E c.954T>G 11 34226167 LUSC A G IntronicSNV . c.883+54932T>C 11 34323316 CLL A G Missense p.L647P c.1940T>C 11 34186281 NB A T IntronicSNV . c.883+21450T>A 11 34356798 CM A T Missense p.F930I c.2788T>A 11 34175904 RCCC A T Missense p.M187K c.560T>A 11 34378571 LUSC C A Missense p.A964S c.2890G>T 11 34174122 BRCA C A Missense p.D253Y c.757G>T 11 34378374 RCCC C A Nonsense p.C939* c.2817C>A 11 34175875 GBM C T IntronicSNV . c.1244+11117G>A 11 34207755 CLL C T Missense p.A383T c.1147G>A 11 34218969 STAD C T Missense p.D793N c.2377G>A 11 34182470 BRCA C T Missense p.E911K c.2731G>A 11 34176283 HNSC C T Missense p.G491D c.1472G>A 11 34192544 HC C T Missense p.G853E c.2558G>A 11 34181501 CM C T Missense p.R1024Q c.3071G>A 11 34173941 UCEC C T Missense p.R452Q c.1355G>A 11 34194744 HNSC C T Missense p.R711Q c.2132G>A 11 34184209 CM C T Missense p.V707M c.2119G>A 11 34184222 UCEC C T SpliceAcceptorSNV . c.1398-1G>A 11 34192619 BRCA C T Synonymous p.E825E c.2475G>A 11 34181823 CM C T Synonymous p.P362P c.1086G>A 11 34219030 HNSC G A IntronicSNV . c.883+21512C>T 11 34356736 CM G A Missense p.H746Y c.2236C>T 11 34182611 HNSC G A Missense p.R760W c.2278C>T 11 34182569 LGG G A Missense p.S331F c.992C>T 11 34226129 CM G A Missense p.S657L c.1970C>T 11 34186251 RCCC G A Missense p.T335I c.1004C>T 11 34226117 BLCA G A Missense p.T910I c.2729C>T 11 34176285 LGG G A Synonymous p.A479A c.1437C>T 11 34192579 CM G A Synonymous p.F486F c.1458C>T 11 34192558 CM G A Synonymous p.I447I c.1341C>T 11 34194758 CM G A Synonymous p.N780N c.2340C>T 11 34182507 HNSC G A Synonymous p.N840N c.2520C>T 11 34181539 ESCA G A Synonymous p.R428R c.1284C>T 11 34194815 BRCA G A Synonymous p.T785T c.2355C>T 11 34182492 BLCA G C IntronicSNV . c.1245-9198C>G 11 34204052 CLL G C Missense p.S751C c.2252C>G 11 34182595 LUAD G C Missense p.S867C c.2600C>G 11 34181459 BLCA G T Missense p.L969M c.2905C>A 11 34174107 RCCC G T Missense p.P407Q c.1220C>A 11 34218896 STAD G T Missense p.S645Y c.1934C>A 11 34186287 CM T A IntronicSNV . c.884-3712A>T 11 34229949 CLL T C Missense p.E649G c.1946A>G 11 34186275 UCEC T C Missense p.H896R c.2687A>G 11 34180853 LUSC T C Missense p.K842E c.2524A>G 11 34181535 CM T C Missense p.T327A c.979A>G 11 34226142 UCEC T C Synonymous p.E414E c.1242A>G 11 34218874 LUAD