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 2 219324581 219324581 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 g.chr2:219324581C>G c.2575G>C c.(2575-2577)Gga>Cga p.G859R BLCA 2 219339413 219339413 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 g.chr2:219339413C>T c.2239G>A c.(2239-2241)Gaa>Aaa p.E747K BLCA 2 219339480 219339480 + Silent SNP C C G TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr2:219339480C>G c.2172G>C c.(2170-2172)ctG>ctC p.L724L BLCA 2 219341649 219341649 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr2:219341649C>T c.1957G>A c.(1957-1959)Gag>Aag p.E653K BLCA 2 219350409 219350409 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 g.chr2:219350409G>A c.1648C>T c.(1648-1650)Cac>Tac p.H550Y BLCA 2 219353050 219353050 + Missense_Mutation SNP C C G TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr2:219353050C>G c.1567G>C c.(1567-1569)Gat>Cat p.D523H BLCA 2 219360635 219360635 + Silent SNP C C A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 g.chr2:219360635C>A c.1320G>T c.(1318-1320)ctG>ctT p.L440L BLCA 2 219374852 219374852 + Missense_Mutation SNP G G A TCGA-GU-AATP-01A-11D-A391-08 TCGA-GU-AATP-10A-01D-A394-08 g.chr2:219374852G>A c.875C>T c.(874-876)tCa>tTa p.S292L BLCA 2 219399360 219399360 + Missense_Mutation SNP C C G TCGA-4Z-AA7R-01A-11D-A391-08 TCGA-4Z-AA7R-10A-01D-A394-08 g.chr2:219399360C>G c.750G>C c.(748-750)ttG>ttC p.L250F BLCA 2 219411748 219411748 + Missense_Mutation SNP G G C TCGA-DK-AA74-01A-11D-A391-08 TCGA-DK-AA74-10A-01D-A394-08 g.chr2:219411748G>C c.496C>G c.(496-498)Ccg>Gcg p.P166A BLCA 2 219414542 219414542 + Nonsense_Mutation SNP G G C TCGA-XF-A9SZ-01A-11D-A391-08 TCGA-XF-A9SZ-10A-01D-A394-08 g.chr2:219414542G>C c.419C>G c.(418-420)tCa>tGa p.S140* BLCA 2 219423230 219423230 + Missense_Mutation SNP C C G TCGA-XF-AAML-01A-11D-A42E-08 TCGA-XF-AAML-10A-01D-A42H-08 g.chr2:219423230C>G c.147G>C c.(145-147)agG>agC p.R49S BLCA 2 219423304 219423304 + Nonsense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 g.chr2:219423304C>A c.73G>T c.(73-75)Gga>Tga p.G25* BLCA 2 219423311 219423311 + Missense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 g.chr2:219423311C>A c.66G>T c.(64-66)tgG>tgT p.W22C BRCA 2 219399388 219399388 + Missense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr2:219399388G>T c.722C>A c.(721-723)aCc>aAc p.T241N BRCA 2 219410972 219410972 + Missense_Mutation SNP C C G TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 g.chr2:219410972C>G c.652G>C c.(652-654)Gat>Cat p.D218H BRCA 2 219411017 219411017 + Missense_Mutation SNP C C G TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 g.chr2:219411017C>G c.607G>C c.(607-609)Gaa>Caa p.E203Q BRCA 2 219411690 219411690 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:219411690G>C c.554C>G c.(553-555)tCt>tGt p.S185C BRCA 2 219423359 219423359 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr2:219423359T>C c.18A>G c.(16-18)atA>atG p.I6M CESC 2 219321885 219321885 + Splice_Site SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 g.chr2:219321885C>T c.e24-1 CESC 2 219330900 219330900 + Splice_Site SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr2:219330900C>A c.e21-1 CESC 2 219362460 219362460 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr2:219362460C>G c.1278G>C c.(1276-1278)caG>caC p.Q426H CESC 2 219362850 219362850 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 g.chr2:219362850C>T c.1056G>A c.(1054-1056)atG>atA p.M352I COAD 2 219320402 219320402 + Missense_Mutation SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr2:219320402G>A c.2753C>T c.(2752-2754)gCg>gTg p.A918V COAD 2 219339421 219339421 + Missense_Mutation SNP T T C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr2:219339421T>C c.2231A>G c.(2230-2232)gAt>gGt p.D744G COAD 2 219360483 219360483 + Splice_Site SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:219360483G>A c.1472C>T c.(1471-1473)gCa>gTa p.A491V COAD 2 219374736 219374736 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr2:219374736G>A c.991C>T c.(991-993)Ccc>Tcc p.P331S COAD 2 219411755 219411755 + Silent SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:219411755A>G c.489T>C c.(487-489)ctT>ctC p.L163L COAD 2 219418412 219418412 + Silent SNP G G A TCGA-AA-3662-01A-01D-1719-10 TCGA-AA-3662-11A-01D-1719-10 g.chr2:219418412G>A c.192C>T c.(190-192)ccC>ccT p.P64P COADREAD 2 219320402 219320402 + Missense_Mutation SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr2:219320402G>A c.2753C>T c.(2752-2754)gCg>gTg p.A918V COADREAD 2 219330870 219330870 + Missense_Mutation SNP C C A TCGA-CL-5918-01A-11D-1657-10 TCGA-CL-5918-10A-01D-1657-10 g.chr2:219330870C>A c.2329G>T c.(2329-2331)Gac>Tac p.D777Y COADREAD 2 219339421 219339421 + Missense_Mutation SNP T T C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr2:219339421T>C c.2231A>G c.(2230-2232)gAt>gGt p.D744G COADREAD 2 219360483 219360483 + Splice_Site SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:219360483G>A c.1472C>T c.(1471-1473)gCa>gTa p.A491V COADREAD 2 219374736 219374736 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr2:219374736G>A c.991C>T c.(991-993)Ccc>Tcc p.P331S COADREAD 2 219411755 219411755 + Silent SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:219411755A>G c.489T>C c.(487-489)ctT>ctC p.L163L COADREAD 2 219418412 219418412 + Silent SNP G G A TCGA-AA-3662-01A-01D-1719-10 TCGA-AA-3662-11A-01D-1719-10 g.chr2:219418412G>A c.192C>T c.(190-192)ccC>ccT p.P64P COADREAD 2 219418412 219418412 + Silent SNP G G A TCGA-AF-2687-01A-02D-1733-10 TCGA-AF-2687-10A-01D-1733-10 g.chr2:219418412G>A c.192C>T c.(190-192)ccC>ccT p.P64P DLBC 2 219360656 219360656 + Silent SNP T T C TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr2:219360656T>C c.1299A>G c.(1297-1299)ttA>ttG p.L433L ESCA 2 219341622 219341622 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 g.chr2:219341622G>T c.1984C>A c.(1984-1986)Ctc>Atc p.L662I ESCA 2 219344406 219344406 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr2:219344406T>C c.1868A>G c.(1867-1869)aAt>aGt p.N623S ESCA 2 219346828 219346828 + Silent SNP T T C TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 g.chr2:219346828T>C c.1800A>G c.(1798-1800)ccA>ccG p.P600P GBMLGG 2 219321847 219321847 + Missense_Mutation SNP A A C TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 g.chr2:219321847A>C c.2681T>G c.(2680-2682)gTt>gGt p.V894G GBMLGG 2 219418378 219418378 + Silent SNP G G A TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 g.chr2:219418378G>A c.226C>T c.(226-228)Ctg>Ttg p.L76L GBMLGG 2 219418446 219418446 + Splice_Site SNP A A G TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 g.chr2:219418446A>G c.158T>C c.(157-159)cTa>cCa p.L53P HNSC 2 219324528 219324528 + Silent SNP C C G TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 g.chr2:219324528C>G c.2628G>C c.(2626-2628)ctG>ctC p.L876L HNSC 2 219341590 219341590 + Silent SNP G G A TCGA-T2-A6X0-01A-11D-A34J-08 TCGA-T2-A6X0-10B-01D-A34M-08 g.chr2:219341590G>A c.2016C>T c.(2014-2016)aaC>aaT p.N672N HNSC 2 219346853 219346853 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 g.chr2:219346853G>A c.1775C>T c.(1774-1776)tCt>tTt p.S592F HNSC 2 219362475 219362475 + Missense_Mutation SNP G G C TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 g.chr2:219362475G>C c.1263C>G c.(1261-1263)ttC>ttG p.F421L KICH 2 219350461 219350461 + Silent SNP T T C TCGA-KO-8415-01A-11D-2310-10 TCGA-KO-8415-11A-01D-2311-10 g.chr2:219350461T>C c.1596A>G c.(1594-1596)gaA>gaG p.E532E KIPAN 2 219328058 219328058 + Missense_Mutation SNP A A G TCGA-A4-7585-01A-11D-2136-08 TCGA-A4-7585-11A-01D-2136-08 g.chr2:219328058A>G c.2498T>C c.(2497-2499)cTc>cCc p.L833P KIPAN 2 219330803 219330803 + Missense_Mutation SNP T T C TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 g.chr2:219330803T>C c.2396A>G c.(2395-2397)cAg>cGg p.Q799R KIPAN 2 219350461 219350461 + Silent SNP T T C TCGA-KO-8415-01A-11D-2310-10 TCGA-KO-8415-11A-01D-2311-10 g.chr2:219350461T>C c.1596A>G c.(1594-1596)gaA>gaG p.E532E KIPAN 2 219353073 219353073 + Missense_Mutation SNP G G T TCGA-B0-4811-01A-01D-1501-10 TCGA-B0-4811-11A-02D-1501-10 g.chr2:219353073G>T c.1544C>A c.(1543-1545)cCa>cAa p.P515Q KIPAN 2 219360546 219360546 + Missense_Mutation SNP G G T TCGA-2Z-A9JE-01A-11D-A42J-10 TCGA-2Z-A9JE-10A-01D-A42M-10 g.chr2:219360546G>T c.1409C>A c.(1408-1410)gCa>gAa p.A470E KIPAN 2 219423354 219423354 + Missense_Mutation SNP C C A TCGA-CJ-4634-01A-02D-1386-10 TCGA-CJ-4634-11A-01D-1251-10 g.chr2:219423354C>A c.23G>T c.(22-24)gGt>gTt p.G8V KIRC 2 219330803 219330803 + Missense_Mutation SNP T T C TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 g.chr2:219330803T>C c.2396A>G c.(2395-2397)cAg>cGg p.Q799R KIRC 2 219353073 219353073 + Missense_Mutation SNP G G T TCGA-B0-4811-01A-01D-1501-10 TCGA-B0-4811-11A-02D-1501-10 g.chr2:219353073G>T c.1544C>A c.(1543-1545)cCa>cAa p.P515Q KIRC 2 219423354 219423354 + Missense_Mutation SNP C C A TCGA-CJ-4634-01A-02D-1386-10 TCGA-CJ-4634-11A-01D-1251-10 g.chr2:219423354C>A c.23G>T c.(22-24)gGt>gTt p.G8V KIRP 2 219328058 219328058 + Missense_Mutation SNP A A G TCGA-A4-7585-01A-11D-2136-08 TCGA-A4-7585-11A-01D-2136-08 g.chr2:219328058A>G c.2498T>C c.(2497-2499)cTc>cCc p.L833P KIRP 2 219360546 219360546 + Missense_Mutation SNP G G T TCGA-2Z-A9JE-01A-11D-A42J-10 TCGA-2Z-A9JE-10A-01D-A42M-10 g.chr2:219360546G>T c.1409C>A c.(1408-1410)gCa>gAa p.A470E LGG 2 219321847 219321847 + Missense_Mutation SNP A A C TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 g.chr2:219321847A>C c.2681T>G c.(2680-2682)gTt>gGt p.V894G LGG 2 219418378 219418378 + Silent SNP G G A TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 g.chr2:219418378G>A c.226C>T c.(226-228)Ctg>Ttg p.L76L LGG 2 219418446 219418446 + Splice_Site SNP A A G TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 g.chr2:219418446A>G c.158T>C c.(157-159)cTa>cCa p.L53P LIHC 2 219330793 219330794 + Frame_Shift_Ins INS - - A TCGA-DD-AAW2-01A-11D-A40P-10 TCGA-DD-AAW2-10A-01D-A40P-10 g.chr2:219330793_219330794insA c.2405_2406insT c.(2404-2406)atgfs p.M802fs LIHC 2 219350428 219350428 + Frame_Shift_Del DEL C C - TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr2:219350428delC c.1629delG c.(1627-1629)gggfs p.G543fs LIHC 2 219353045 219353045 + Silent SNP A A G TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr2:219353045A>G c.1572T>C c.(1570-1572)tcT>tcC p.S524S LIHC 2 219374706 219374706 + Nonsense_Mutation SNP G G A TCGA-2Y-A9H2-01A-12D-A382-10 TCGA-2Y-A9H2-10A-01D-A385-10 g.chr2:219374706G>A c.1021C>T c.(1021-1023)Cag>Tag p.Q341* LIHC 2 219423315 219423315 + Frame_Shift_Del DEL T T - TCGA-CC-5260-01A-01D-A12Z-10 TCGA-CC-5260-10B-01D-A12Z-10 g.chr2:219423315delT c.62delA c.(61-63)aagfs p.K21fs LUAD 2 219320359 219320359 + Missense_Mutation SNP C C A TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr2:219320359C>A c.2796G>T c.(2794-2796)gaG>gaT p.E932D LUAD 2 219339353 219339353 + Splice_Site SNP C C A TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr2:219339353C>A c.2299G>T c.(2299-2301)Gat>Tat p.D767Y LUAD 2 219360654 219360654 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr2:219360654C>A c.1301G>T c.(1300-1302)aGt>aTt p.S434I LUAD 2 219418306 219418306 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 g.chr2:219418306C>G c.298G>C c.(298-300)Gat>Cat p.D100H LUAD 2 219418392 219418392 + Missense_Mutation SNP C C G TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr2:219418392C>G c.212G>C c.(211-213)cGc>cCc p.R71P LUSC 2 219328034 219328034 + Missense_Mutation SNP A A C TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 g.chr2:219328034A>C c.2522T>G c.(2521-2523)cTt>cGt p.L841R LUSC 2 219346935 219346935 + Nonsense_Mutation SNP G G A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 g.chr2:219346935G>A c.1693C>T c.(1693-1695)Cga>Tga p.R565* LUSC 2 219350415 219350415 + Missense_Mutation SNP C C A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 g.chr2:219350415C>A c.1642G>T c.(1642-1644)Gtc>Ttc p.V548F LUSC 2 219360482 219360482 + Splice_Site SNP C C T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 g.chr2:219360482C>T c.e14+1 LUSC 2 219394731 219394731 + Missense_Mutation SNP C C A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr2:219394731C>A c.811G>T c.(811-813)Ggt>Tgt p.G271C OV 2 219319666 219319666 + Missense_Mutation SNP C C T TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 g.chr2:219319666C>T c.2927G>A c.(2926-2928)cGt>cAt p.R976H OV 2 219324534 219324534 + Silent SNP C C T TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 g.chr2:219324534C>T c.2622G>A c.(2620-2622)gaG>gaA p.E874E OV 2 219330749 219330749 + Missense_Mutation SNP T T G TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 g.chr2:219330749T>G c.2450A>C c.(2449-2451)cAg>cCg p.Q817P PAAD 2 219321859 219321859 + Missense_Mutation SNP C C A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 g.chr2:219321859C>A c.2669G>T c.(2668-2670)cGg>cTg p.R890L PAAD 2 219330731 219330731 + Splice_Site SNP A A T TCGA-2L-AAQA-01A-21D-A38G-08 TCGA-2L-AAQA-11A-11D-A38J-08 g.chr2:219330731A>T c.e21+1 PAAD 2 219374752 219374752 + Nonsense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:219374752C>T c.975G>A c.(973-975)tgG>tgA p.W325* PAAD 2 219411667 219411667 + Missense_Mutation SNP G G C TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr2:219411667G>C c.577C>G c.(577-579)Ctt>Gtt p.L193V PAAD 2 219414540 219414540 + Missense_Mutation SNP C C A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 g.chr2:219414540C>A c.421G>T c.(421-423)Gac>Tac p.D141Y PRAD 2 219341590 219341590 + Missense_Mutation SNP G G T TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 g.chr2:219341590G>T c.2016C>A c.(2014-2016)aaC>aaA p.N672K PRAD 2 219353074 219353074 + Missense_Mutation SNP G G T TCGA-FC-7708-01A-11D-2114-08 TCGA-FC-7708-10A-01D-2115-08 g.chr2:219353074G>T c.1543C>A c.(1543-1545)Cca>Aca p.P515T PRAD 2 219353102 219353102 + Silent SNP G G T TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 g.chr2:219353102G>T c.1515C>A c.(1513-1515)ctC>ctA p.L505L PRAD 2 219418330 219418330 + Missense_Mutation SNP C C G TCGA-VN-A88Q-01A-11D-A34U-08 TCGA-VN-A88Q-10A-01D-A34X-08 g.chr2:219418330C>G c.274G>C c.(274-276)Gca>Cca p.A92P READ 2 219330870 219330870 + Missense_Mutation SNP C C A TCGA-CL-5918-01A-11D-1657-10 TCGA-CL-5918-10A-01D-1657-10 g.chr2:219330870C>A c.2329G>T c.(2329-2331)Gac>Tac p.D777Y READ 2 219418412 219418412 + Silent SNP G G A TCGA-AF-2687-01A-02D-1733-10 TCGA-AF-2687-10A-01D-1733-10 g.chr2:219418412G>A c.192C>T c.(190-192)ccC>ccT p.P64P SARC 2 219360517 219360517 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr2:219360517C>T c.1438G>A c.(1438-1440)Gag>Aag p.E480K SARC 2 219360518 219360518 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr2:219360518C>T c.1437G>A c.(1435-1437)ttG>ttA p.L479L SKCM 2 219321865 219321865 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 g.chr2:219321865G>A c.2663C>T c.(2662-2664)tCg>tTg p.S888L SKCM 2 219341665 219341665 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr2:219341665G>A c.1941C>T c.(1939-1941)tgC>tgT p.C647C SKCM 2 219346947 219346947 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr2:219346947G>A c.1681C>T c.(1681-1683)Ctc>Ttc p.L561F SKCM 2 219350454 219350454 + Missense_Mutation SNP C C G TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr2:219350454C>G c.1603G>C c.(1603-1605)Gag>Cag p.E535Q SKCM 2 219353064 219353064 + Missense_Mutation SNP G G A TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr2:219353064G>A c.1553C>T c.(1552-1554)cCt>cTt p.P518L SKCM 2 219360645 219360645 + Missense_Mutation SNP A A G TCGA-ER-A19B-06A-11D-A196-08 TCGA-ER-A19B-10A-01D-A198-08 g.chr2:219360645A>G c.1310T>C c.(1309-1311)tTg>tCg p.L437S SKCM 2 219360674 219360674 + Splice_Site SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr2:219360674C>T c.e14-1 SKCM 2 219362824 219362824 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr2:219362824G>A c.1082C>T c.(1081-1083)tCa>tTa p.S361L SKCM 2 219394755 219394755 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 g.chr2:219394755G>A c.787C>T c.(787-789)Cct>Tct p.P263S SKCM 2 219411703 219411703 + Missense_Mutation SNP G G A TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr2:219411703G>A c.541C>T c.(541-543)Cgg>Tgg p.R181W SKCM 2 219411757 219411757 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:219411757G>A c.487C>T c.(487-489)Ctt>Ttt p.L163F SKCM 2 219423367 219423367 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:219423367G>A c.10C>T c.(10-12)Ctg>Ttg p.L4L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 2 219339572 219339572 single base substitution C T downstream_gene_variant BLCA-CN 2 219339572 219339572 single base substitution C T exon_variant BLCA-CN 2 219339572 219339572 single base substitution C T missense_variant E600K 1798G>A BLCA-CN 2 219339572 219339572 single base substitution C T missense_variant E694K 2080G>A BLCA-CN 2 219374818 219374818 single base substitution T C exon_variant BLCA-CN 2 219374818 219374818 single base substitution T C synonymous_variant G231G 693A>G BLCA-CN 2 219374818 219374818 single base substitution T C synonymous_variant G303G 909A>G BLCA-CN 2 219414548 219414548 single base substitution G C missense_variant S138C 413C>G BLCA-CN 2 219414548 219414548 single base substitution G C missense_variant S66C 197C>G BLCA-CN 2 219414548 219414548 single base substitution G C upstream_gene_variant BLCA-US 2 219324581 219324581 single base substitution C G missense_variant G765R 2293G>C BLCA-US 2 219324581 219324581 single base substitution C G missense_variant G859R 2575G>C BLCA-US 2 219360635 219360635 single base substitution C A downstream_gene_variant BLCA-US 2 219360635 219360635 single base substitution C A exon_variant BLCA-US 2 219360635 219360635 single base substitution C A synonymous_variant L368L 1104G>T BLCA-US 2 219360635 219360635 single base substitution C A synonymous_variant L440L 1320G>T BOCA-FR 2 219393688 219393688 single base substitution T G intron_variant BRCA-EU 2 219310224 219310224 single base substitution G C downstream_gene_variant BRCA-EU 2 219310272 219310272 single base substitution A C downstream_gene_variant BRCA-EU 2 219310421 219310421 single base substitution T G downstream_gene_variant BRCA-EU 2 219310530 219310530 single base substitution G C downstream_gene_variant BRCA-EU 2 219311404 219311404 single base substitution T C downstream_gene_variant BRCA-EU 2 219311975 219311975 single base substitution G A downstream_gene_variant BRCA-EU 2 219311992 219311992 single base substitution G A downstream_gene_variant BRCA-EU 2 219312065 219312065 single base substitution C A downstream_gene_variant BRCA-EU 2 219312541 219312541 single base substitution C A downstream_gene_variant BRCA-EU 2 219313180 219313180 single base substitution C T downstream_gene_variant BRCA-EU 2 219313295 219313295 single base substitution A T downstream_gene_variant BRCA-EU 2 219314110 219314110 single base substitution C T downstream_gene_variant BRCA-EU 2 219316500 219316500 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 219316500 219316500 single base substitution G A downstream_gene_variant BRCA-EU 2 219316501 219316501 single base substitution C A 3_prime_UTR_variant BRCA-EU 2 219316501 219316501 single base substitution C A downstream_gene_variant BRCA-EU 2 219316983 219316983 single base substitution A G 3_prime_UTR_variant BRCA-EU 2 219316983 219316983 single base substitution A G downstream_gene_variant BRCA-EU 2 219317652 219317652 single base substitution G C 3_prime_UTR_variant BRCA-EU 2 219317652 219317652 single base substitution G C downstream_gene_variant BRCA-EU 2 219317676 219317682 deletion of <=200bp AAACTTT - 3_prime_UTR_variant BRCA-EU 2 219317676 219317682 deletion of <=200bp AAACTTT - downstream_gene_variant BRCA-EU 2 219318097 219318097 single base substitution C G 3_prime_UTR_variant BRCA-EU 2 219318097 219318097 single base substitution C G downstream_gene_variant BRCA-EU 2 219319707 219319707 single base substitution C G missense_variant K868N 2604G>C BRCA-EU 2 219319707 219319707 single base substitution C G missense_variant K962N 2886G>C BRCA-EU 2 219320074 219320074 single base substitution C G intron_variant BRCA-EU 2 219323458 219323458 single base substitution C G intron_variant BRCA-EU 2 219325145 219325145 single base substitution G C intron_variant BRCA-EU 2 219325554 219325554 single base substitution C T intron_variant BRCA-EU 2 219325795 219325795 single base substitution C T intron_variant BRCA-EU 2 219328523 219328523 single base substitution G A downstream_gene_variant BRCA-EU 2 219328523 219328523 single base substitution G A intron_variant BRCA-EU 2 219329021 219329021 single base substitution C T downstream_gene_variant BRCA-EU 2 219329021 219329021 single base substitution C T intron_variant BRCA-EU 2 219333530 219333530 single base substitution C A intron_variant BRCA-EU 2 219335143 219335143 single base substitution C G downstream_gene_variant BRCA-EU 2 219335143 219335143 single base substitution C G intron_variant BRCA-EU 2 219335706 219335706 single base substitution G C downstream_gene_variant BRCA-EU 2 219335706 219335706 single base substitution G C intron_variant BRCA-EU 2 219335933 219335933 single base substitution G C downstream_gene_variant BRCA-EU 2 219335933 219335933 single base substitution G C intron_variant BRCA-EU 2 219336370 219336370 single base substitution C T downstream_gene_variant BRCA-EU 2 219336370 219336370 single base substitution C T intron_variant BRCA-EU 2 219336377 219336377 single base substitution C G downstream_gene_variant BRCA-EU 2 219336377 219336377 single base substitution C G intron_variant BRCA-EU 2 219336633 219336633 single base substitution A G downstream_gene_variant BRCA-EU 2 219336633 219336633 single base substitution A G intron_variant BRCA-EU 2 219338464 219338464 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 219338464 219338464 deletion of <=200bp A - intron_variant BRCA-EU 2 219339179 219339179 single base substitution G A downstream_gene_variant BRCA-EU 2 219339179 219339179 single base substitution G A intron_variant BRCA-EU 2 219339193 219339193 single base substitution T G downstream_gene_variant BRCA-EU 2 219339193 219339193 single base substitution T G intron_variant BRCA-EU 2 219342317 219342317 single base substitution G C intron_variant BRCA-EU 2 219342317 219342317 single base substitution G C upstream_gene_variant BRCA-EU 2 219342667 219342667 single base substitution A T intron_variant BRCA-EU 2 219342667 219342667 single base substitution A T upstream_gene_variant BRCA-EU 2 219343378 219343378 single base substitution T C intron_variant BRCA-EU 2 219343378 219343378 single base substitution T C upstream_gene_variant BRCA-EU 2 219344394 219344394 single base substitution G A exon_variant BRCA-EU 2 219344394 219344394 single base substitution G A intron_variant BRCA-EU 2 219344394 219344394 single base substitution G A missense_variant T627I 1880C>T BRCA-EU 2 219344394 219344394 single base substitution G A upstream_gene_variant BRCA-EU 2 219346822 219346822 single base substitution A C exon_variant BRCA-EU 2 219346822 219346822 single base substitution A C missense_variant F530L 1590T>G BRCA-EU 2 219346822 219346822 single base substitution A C missense_variant F602L 1806T>G BRCA-EU 2 219346822 219346822 single base substitution A C upstream_gene_variant BRCA-EU 2 219347206 219347206 single base substitution C A intron_variant BRCA-EU 2 219347206 219347206 single base substitution C A upstream_gene_variant BRCA-EU 2 219347429 219347429 single base substitution C T intron_variant BRCA-EU 2 219347429 219347429 single base substitution C T upstream_gene_variant BRCA-EU 2 219348374 219348374 deletion of <=200bp T - intron_variant BRCA-EU 2 219348374 219348374 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 219348420 219348420 single base substitution G A intron_variant BRCA-EU 2 219348420 219348420 single base substitution G A upstream_gene_variant BRCA-EU 2 219349008 219349008 single base substitution C T intron_variant BRCA-EU 2 219349008 219349008 single base substitution C T upstream_gene_variant BRCA-EU 2 219350147 219350147 single base substitution G C intron_variant BRCA-EU 2 219350500 219350500 single base substitution G A intron_variant BRCA-EU 2 219351451 219351451 insertion of <=200bp - T intron_variant BRCA-EU 2 219351451 219351451 insertion of <=200bp - T upstream_gene_variant BRCA-EU 2 219352716 219352716 single base substitution G T intron_variant BRCA-EU 2 219352716 219352716 single base substitution G T upstream_gene_variant BRCA-EU 2 219354139 219354139 single base substitution C G intron_variant BRCA-EU 2 219354139 219354139 single base substitution C G upstream_gene_variant BRCA-EU 2 219356643 219356643 single base substitution C T downstream_gene_variant BRCA-EU 2 219356643 219356643 single base substitution C T intron_variant BRCA-EU 2 219356675 219356675 single base substitution C T downstream_gene_variant BRCA-EU 2 219356675 219356675 single base substitution C T intron_variant BRCA-EU 2 219357385 219357385 single base substitution C T downstream_gene_variant BRCA-EU 2 219357385 219357385 single base substitution C T intron_variant BRCA-EU 2 219358125 219358125 single base substitution C T downstream_gene_variant BRCA-EU 2 219358125 219358125 single base substitution C T intron_variant BRCA-EU 2 219358230 219358230 single base substitution G A downstream_gene_variant BRCA-EU 2 219358230 219358230 single base substitution G A intron_variant BRCA-EU 2 219359281 219359281 single base substitution G C downstream_gene_variant BRCA-EU 2 219359281 219359281 single base substitution G C intron_variant BRCA-EU 2 219359690 219359690 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 219359690 219359690 deletion of <=200bp T - intron_variant BRCA-EU 2 219359883 219359883 single base substitution G C downstream_gene_variant BRCA-EU 2 219359883 219359883 single base substitution G C intron_variant BRCA-EU 2 219360000 219360000 single base substitution G C downstream_gene_variant BRCA-EU 2 219360000 219360000 single base substitution G C intron_variant BRCA-EU 2 219362639 219362639 single base substitution A C intron_variant BRCA-EU 2 219366337 219366337 single base substitution G A intron_variant BRCA-EU 2 219366337 219366337 single base substitution G A upstream_gene_variant BRCA-EU 2 219368435 219368435 single base substitution T C intron_variant BRCA-EU 2 219368847 219368847 single base substitution A T intron_variant BRCA-EU 2 219369118 219369118 single base substitution C G intron_variant BRCA-EU 2 219370838 219370838 single base substitution C T downstream_gene_variant BRCA-EU 2 219370838 219370838 single base substitution C T intron_variant BRCA-EU 2 219371519 219371519 single base substitution G C downstream_gene_variant BRCA-EU 2 219371519 219371519 single base substitution G C intron_variant BRCA-EU 2 219373012 219373012 single base substitution T A downstream_gene_variant BRCA-EU 2 219373012 219373012 single base substitution T A intron_variant BRCA-EU 2 219373566 219373566 single base substitution G A downstream_gene_variant BRCA-EU 2 219373566 219373566 single base substitution G A intron_variant BRCA-EU 2 219377525 219377525 single base substitution C T intron_variant BRCA-EU 2 219379646 219379646 single base substitution C T intron_variant BRCA-EU 2 219379646 219379646 single base substitution C T upstream_gene_variant BRCA-EU 2 219380590 219380590 single base substitution A G intron_variant BRCA-EU 2 219380590 219380590 single base substitution A G upstream_gene_variant BRCA-EU 2 219381725 219381725 single base substitution A G intron_variant BRCA-EU 2 219381725 219381725 single base substitution A G upstream_gene_variant BRCA-EU 2 219382394 219382394 single base substitution T C intron_variant BRCA-EU 2 219382394 219382394 single base substitution T C upstream_gene_variant BRCA-EU 2 219382689 219382689 deletion of <=200bp T - intron_variant BRCA-EU 2 219382689 219382689 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 219384165 219384165 single base substitution A C intron_variant BRCA-EU 2 219384645 219384645 single base substitution C T intron_variant BRCA-EU 2 219386814 219386814 single base substitution G T intron_variant BRCA-EU 2 219387778 219387778 single base substitution C A intron_variant BRCA-EU 2 219388309 219388309 single base substitution C A downstream_gene_variant BRCA-EU 2 219388309 219388309 single base substitution C A intron_variant BRCA-EU 2 219389529 219389529 single base substitution C T downstream_gene_variant BRCA-EU 2 219389529 219389529 single base substitution C T intron_variant BRCA-EU 2 219389548 219389548 single base substitution G A downstream_gene_variant BRCA-EU 2 219389548 219389548 single base substitution G A intron_variant BRCA-EU 2 219389713 219389713 single base substitution C G downstream_gene_variant BRCA-EU 2 219389713 219389713 single base substitution C G intron_variant BRCA-EU 2 219389850 219389850 single base substitution C T downstream_gene_variant BRCA-EU 2 219389850 219389850 single base substitution C T intron_variant BRCA-EU 2 219389935 219389935 single base substitution C T downstream_gene_variant BRCA-EU 2 219389935 219389935 single base substitution C T intron_variant BRCA-EU 2 219390293 219390293 single base substitution C A downstream_gene_variant BRCA-EU 2 219390293 219390293 single base substitution C A intron_variant BRCA-EU 2 219390420 219390420 single base substitution C G downstream_gene_variant BRCA-EU 2 219390420 219390420 single base substitution C G intron_variant BRCA-EU 2 219390453 219390453 single base substitution C A downstream_gene_variant BRCA-EU 2 219390453 219390453 single base substitution C A intron_variant BRCA-EU 2 219392189 219392189 single base substitution G T downstream_gene_variant BRCA-EU 2 219392189 219392189 single base substitution G T intron_variant BRCA-EU 2 219392549 219392549 single base substitution A G downstream_gene_variant BRCA-EU 2 219392549 219392549 single base substitution A G intron_variant BRCA-EU 2 219393046 219393046 single base substitution T G 3_prime_UTR_variant BRCA-EU 2 219393046 219393046 single base substitution T G intron_variant BRCA-EU 2 219393614 219393614 single base substitution T C intron_variant BRCA-EU 2 219394354 219394354 deletion of <=200bp T - intron_variant BRCA-EU 2 219394952 219394952 deletion of <=200bp T - intron_variant BRCA-EU 2 219395152 219395152 single base substitution G A intron_variant BRCA-EU 2 219395934 219395934 single base substitution C G intron_variant BRCA-EU 2 219396199 219396199 single base substitution G C intron_variant BRCA-EU 2 219396234 219396234 single base substitution C T intron_variant BRCA-EU 2 219396481 219396481 single base substitution C G intron_variant BRCA-EU 2 219396823 219396823 single base substitution C T intron_variant BRCA-EU 2 219397005 219397005 single base substitution A T intron_variant BRCA-EU 2 219397269 219397269 single base substitution A T intron_variant BRCA-EU 2 219397311 219397311 single base substitution T A intron_variant BRCA-EU 2 219397337 219397337 insertion of <=200bp - T intron_variant BRCA-EU 2 219398247 219398247 single base substitution C T intron_variant BRCA-EU 2 219398701 219398701 single base substitution C A intron_variant BRCA-EU 2 219400142 219400142 deletion of <=200bp A - intron_variant BRCA-EU 2 219401132 219401132 single base substitution A G intron_variant BRCA-EU 2 219402772 219402772 single base substitution G T intron_variant BRCA-EU 2 219404978 219404978 single base substitution A G intron_variant BRCA-EU 2 219405934 219405934 single base substitution T C intron_variant BRCA-EU 2 219406254 219406254 single base substitution C G intron_variant BRCA-EU 2 219406298 219406298 single base substitution G A intron_variant BRCA-EU 2 219407434 219407434 single base substitution C G intron_variant BRCA-EU 2 219410029 219410029 single base substitution T G intron_variant BRCA-EU 2 219411124 219411124 single base substitution C G intron_variant BRCA-EU 2 219412544 219412544 single base substitution G C intron_variant BRCA-EU 2 219414256 219414256 single base substitution C G intron_variant BRCA-EU 2 219415967 219415967 single base substitution C G intron_variant BRCA-EU 2 219415967 219415967 single base substitution C G upstream_gene_variant BRCA-EU 2 219418040 219418040 single base substitution C T intron_variant BRCA-EU 2 219418040 219418040 single base substitution C T upstream_gene_variant BRCA-EU 2 219418142 219418142 single base substitution C G intron_variant BRCA-EU 2 219418142 219418142 single base substitution C G upstream_gene_variant BRCA-EU 2 219418319 219418319 single base substitution C G missense_variant M23I 69G>C BRCA-EU 2 219418319 219418319 single base substitution C G missense_variant M95I 285G>C BRCA-EU 2 219418319 219418319 single base substitution C G upstream_gene_variant BRCA-EU 2 219418759 219418759 single base substitution G C intron_variant BRCA-EU 2 219418759 219418759 single base substitution G C upstream_gene_variant BRCA-EU 2 219420037 219420037 single base substitution G A intron_variant BRCA-EU 2 219420055 219420055 single base substitution G C intron_variant BRCA-EU 2 219420181 219420181 single base substitution C T intron_variant BRCA-EU 2 219420445 219420445 single base substitution G C intron_variant BRCA-EU 2 219420594 219420594 single base substitution G C intron_variant BRCA-EU 2 219420658 219420658 single base substitution C G intron_variant BRCA-EU 2 219422311 219422311 single base substitution G C intron_variant BRCA-EU 2 219422682 219422682 single base substitution G C intron_variant BRCA-EU 2 219423034 219423034 single base substitution A C intron_variant BRCA-EU 2 219423633 219423633 single base substitution C T intron_variant BRCA-EU 2 219425664 219425664 single base substitution C T intron_variant BRCA-EU 2 219426214 219426214 single base substitution C G intron_variant BRCA-EU 2 219429889 219429889 single base substitution G A intron_variant BRCA-EU 2 219431715 219431715 single base substitution T A intron_variant BRCA-EU 2 219434064 219434064 single base substitution C G upstream_gene_variant BRCA-EU 2 219435114 219435114 single base substitution G C upstream_gene_variant BRCA-EU 2 219435819 219435819 single base substitution G A upstream_gene_variant BRCA-FR 2 219316983 219316983 single base substitution A G 3_prime_UTR_variant BRCA-FR 2 219316983 219316983 single base substitution A G downstream_gene_variant BRCA-FR 2 219319707 219319707 single base substitution C G missense_variant K868N 2604G>C BRCA-FR 2 219319707 219319707 single base substitution C G missense_variant K962N 2886G>C BRCA-FR 2 219346822 219346822 single base substitution A C exon_variant BRCA-FR 2 219346822 219346822 single base substitution A C missense_variant F530L 1590T>G BRCA-FR 2 219346822 219346822 single base substitution A C missense_variant F602L 1806T>G BRCA-FR 2 219346822 219346822 single base substitution A C upstream_gene_variant BRCA-FR 2 219346958 219346958 single base substitution C G splice_acceptor_variant BRCA-FR 2 219346958 219346958 single base substitution C G upstream_gene_variant BRCA-FR 2 219348420 219348420 single base substitution G A intron_variant BRCA-FR 2 219348420 219348420 single base substitution G A upstream_gene_variant BRCA-FR 2 219356675 219356675 single base substitution C T downstream_gene_variant BRCA-FR 2 219356675 219356675 single base substitution C T intron_variant BRCA-FR 2 219358125 219358125 single base substitution C T downstream_gene_variant BRCA-FR 2 219358125 219358125 single base substitution C T intron_variant BRCA-FR 2 219362190 219362190 single base substitution C T downstream_gene_variant BRCA-FR 2 219362190 219362190 single base substitution C T intron_variant BRCA-FR 2 219370838 219370838 single base substitution C T downstream_gene_variant BRCA-FR 2 219370838 219370838 single base substitution C T intron_variant BRCA-FR 2 219374549 219374549 single base substitution A G downstream_gene_variant BRCA-FR 2 219374549 219374549 single base substitution A G intron_variant BRCA-FR 2 219379646 219379646 single base substitution C T intron_variant BRCA-FR 2 219379646 219379646 single base substitution C T upstream_gene_variant BRCA-FR 2 219384165 219384165 single base substitution A C intron_variant BRCA-FR 2 219393614 219393614 single base substitution T C intron_variant BRCA-FR 2 219396823 219396823 single base substitution C T intron_variant BRCA-FR 2 219406254 219406254 single base substitution C G intron_variant BRCA-FR 2 219407434 219407434 single base substitution C G intron_variant BRCA-FR 2 219408936 219408936 single base substitution C G intron_variant BRCA-FR 2 219414256 219414256 single base substitution C G intron_variant BRCA-FR 2 219415967 219415967 single base substitution C G intron_variant BRCA-FR 2 219415967 219415967 single base substitution C G upstream_gene_variant BRCA-FR 2 219420445 219420445 single base substitution G C intron_variant BRCA-FR 2 219420594 219420594 single base substitution G C intron_variant BRCA-FR 2 219435114 219435114 single base substitution G C upstream_gene_variant BRCA-FR 2 219435819 219435819 single base substitution G A upstream_gene_variant BRCA-UK 2 219311975 219311975 single base substitution G A downstream_gene_variant BRCA-UK 2 219313295 219313295 single base substitution A T downstream_gene_variant BRCA-UK 2 219323458 219323458 single base substitution C G intron_variant BRCA-UK 2 219389850 219389850 single base substitution C T downstream_gene_variant BRCA-UK 2 219389850 219389850 single base substitution C T intron_variant BRCA-UK 2 219390747 219390747 single base substitution C G downstream_gene_variant BRCA-UK 2 219390747 219390747 single base substitution C G intron_variant BRCA-UK 2 219397081 219397081 single base substitution C T intron_variant BRCA-US 2 219313999 219313999 single base substitution C T downstream_gene_variant BRCA-US 2 219314015 219314015 single base substitution C T downstream_gene_variant BRCA-US 2 219363007 219363007 single base substitution A C exon_variant BRCA-US 2 219363007 219363007 single base substitution A C intron_variant BRCA-US 2 219399388 219399388 single base substitution G T intron_variant BRCA-US 2 219399388 219399388 single base substitution G T missense_variant T169N 506C>A BRCA-US 2 219399388 219399388 single base substitution G T missense_variant T241N 722C>A BRCA-US 2 219410972 219410972 single base substitution C G exon_variant BRCA-US 2 219410972 219410972 single base substitution C G missense_variant D146H 436G>C BRCA-US 2 219410972 219410972 single base substitution C G missense_variant D218H 652G>C BRCA-US 2 219411017 219411017 single base substitution C G exon_variant BRCA-US 2 219411017 219411017 single base substitution C G missense_variant E131Q 391G>C BRCA-US 2 219411017 219411017 single base substitution C G missense_variant E203Q 607G>C BRCA-US 2 219411690 219411690 single base substitution G C exon_variant BRCA-US 2 219411690 219411690 single base substitution G C missense_variant S113C 338C>G BRCA-US 2 219411690 219411690 single base substitution G C missense_variant S185C 554C>G BRCA-US 2 219423359 219423359 single base substitution T C intron_variant BRCA-US 2 219423359 219423359 single base substitution T C missense_variant I6M 18A>G BTCA-JP 2 219319758 219319758 deletion of <=200bp A - intron_variant BTCA-JP 2 219414495 219414495 deletion of <=200bp T - intron_variant BTCA-JP 2 219414654 219414654 single base substitution T A intron_variant BTCA-JP 2 219414654 219414654 single base substitution T A upstream_gene_variant BTCA-JP 2 219418360 219418360 single base substitution A C missense_variant L10V 28T>G BTCA-JP 2 219418360 219418360 single base substitution A C missense_variant L82V 244T>G BTCA-JP 2 219418360 219418360 single base substitution A C upstream_gene_variant BTCA-JP 2 219423458 219423458 single base substitution G C intron_variant BTCA-JP 2 219433804 219433804 single base substitution T G upstream_gene_variant CESC-US 2 219321885 219321885 single base substitution C T splice_acceptor_variant CESC-US 2 219330900 219330900 single base substitution C A splice_acceptor_variant CESC-US 2 219362460 219362460 single base substitution C G downstream_gene_variant CESC-US 2 219362460 219362460 single base substitution C G exon_variant CESC-US 2 219362460 219362460 single base substitution C G missense_variant Q354H 1062G>C CESC-US 2 219362460 219362460 single base substitution C G missense_variant Q426H 1278G>C CESC-US 2 219362850 219362850 single base substitution C T exon_variant CESC-US 2 219362850 219362850 single base substitution C T missense_variant M280I 840G>A CESC-US 2 219362850 219362850 single base substitution C T missense_variant M352I 1056G>A CLLE-ES 2 219318583 219318583 single base substitution A G 3_prime_UTR_variant CLLE-ES 2 219318583 219318583 single base substitution A G downstream_gene_variant CLLE-ES 2 219325159 219325159 single base substitution C T intron_variant CLLE-ES 2 219326398 219326398 single base substitution A G downstream_gene_variant CLLE-ES 2 219326398 219326398 single base substitution A G intron_variant CLLE-ES 2 219335967 219335967 single base substitution A C downstream_gene_variant CLLE-ES 2 219335967 219335967 single base substitution A C intron_variant CLLE-ES 2 219381774 219381774 single base substitution C A intron_variant CLLE-ES 2 219381774 219381774 single base substitution C A upstream_gene_variant CLLE-ES 2 219382539 219382541 deletion of <=200bp TTT - intron_variant CLLE-ES 2 219382539 219382541 deletion of <=200bp TTT - upstream_gene_variant CLLE-ES 2 219393156 219393156 single base substitution C T 3_prime_UTR_variant CLLE-ES 2 219393156 219393156 single base substitution C T intron_variant CLLE-ES 2 219393796 219393796 single base substitution T C intron_variant CLLE-ES 2 219400115 219400115 single base substitution A C intron_variant CLLE-ES 2 219405982 219405982 single base substitution T G intron_variant CLLE-ES 2 219411856 219411856 single base substitution C T intron_variant CLLE-ES 2 219416669 219416669 single base substitution C A intron_variant CLLE-ES 2 219416669 219416669 single base substitution C A upstream_gene_variant CLLE-ES 2 219416852 219416852 single base substitution T C intron_variant CLLE-ES 2 219416852 219416852 single base substitution T C upstream_gene_variant COAD-US 2 219320402 219320402 single base substitution G A missense_variant A824V 2471C>T COAD-US 2 219320402 219320402 single base substitution G A missense_variant A918V 2753C>T COAD-US 2 219339421 219339421 single base substitution T C downstream_gene_variant COAD-US 2 219339421 219339421 single base substitution T C exon_variant COAD-US 2 219339421 219339421 single base substitution T C missense_variant D650G 1949A>G COAD-US 2 219339421 219339421 single base substitution T C missense_variant D744G 2231A>G COAD-US 2 219374736 219374736 single base substitution G A exon_variant COAD-US 2 219374736 219374736 single base substitution G A missense_variant P259S 775C>T COAD-US 2 219374736 219374736 single base substitution G A missense_variant P331S 991C>T COAD-US 2 219411755 219411755 single base substitution A G exon_variant COAD-US 2 219411755 219411755 single base substitution A G synonymous_variant L163L 489T>C COAD-US 2 219411755 219411755 single base substitution A G synonymous_variant L91L 273T>C COCA-CN 2 219314122 219314122 single base substitution G A downstream_gene_variant COCA-CN 2 219314148 219314148 single base substitution G T downstream_gene_variant COCA-CN 2 219320219 219320219 single base substitution T C intron_variant COCA-CN 2 219320237 219320237 single base substitution A G intron_variant COCA-CN 2 219320238 219320238 single base substitution A G intron_variant COCA-CN 2 219320239 219320239 single base substitution A G intron_variant COCA-CN 2 219320267 219320267 single base substitution C T intron_variant COCA-CN 2 219331915 219331915 single base substitution T C intron_variant COCA-CN 2 219341589 219341589 single base substitution C T downstream_gene_variant COCA-CN 2 219341589 219341589 single base substitution C T exon_variant COCA-CN 2 219341589 219341589 single base substitution C T missense_variant E579K 1735G>A COCA-CN 2 219341589 219341589 single base substitution C T missense_variant E673K 2017G>A COCA-CN 2 219350646 219350646 single base substitution C A intron_variant COCA-CN 2 219352921 219352921 single base substitution G A intron_variant COCA-CN 2 219352921 219352921 single base substitution G A upstream_gene_variant COCA-CN 2 219352926 219352926 single base substitution G A intron_variant COCA-CN 2 219352926 219352926 single base substitution G A upstream_gene_variant COCA-CN 2 219353033 219353033 single base substitution G T missense_variant F456L 1368C>A COCA-CN 2 219353033 219353033 single base substitution G T missense_variant F528L 1584C>A COCA-CN 2 219353033 219353033 single base substitution G T upstream_gene_variant COCA-CN 2 219362627 219362627 single base substitution C T intron_variant COCA-CN 2 219399452 219399452 single base substitution A C intron_variant COCA-CN 2 219433670 219433670 single base substitution C T upstream_gene_variant EOPC-DE 2 219313467 219313467 single base substitution C A downstream_gene_variant EOPC-DE 2 219316903 219316903 single base substitution G A 3_prime_UTR_variant EOPC-DE 2 219316903 219316903 single base substitution G A downstream_gene_variant EOPC-DE 2 219362303 219362303 single base substitution C G downstream_gene_variant EOPC-DE 2 219362303 219362303 single base substitution C G intron_variant ESAD-UK 2 219310614 219310614 single base substitution T C downstream_gene_variant ESAD-UK 2 219311027 219311027 single base substitution G A downstream_gene_variant ESAD-UK 2 219314009 219314009 single base substitution C G downstream_gene_variant ESAD-UK 2 219316935 219316935 single base substitution C T 3_prime_UTR_variant ESAD-UK 2 219316935 219316935 single base substitution C T downstream_gene_variant ESAD-UK 2 219317630 219317630 single base substitution A T 3_prime_UTR_variant ESAD-UK 2 219317630 219317630 single base substitution A T downstream_gene_variant ESAD-UK 2 219317993 219317993 deletion of <=200bp T - 3_prime_UTR_variant ESAD-UK 2 219317993 219317993 deletion of <=200bp T - downstream_gene_variant ESAD-UK 2 219318939 219318939 single base substitution C T 3_prime_UTR_variant ESAD-UK 2 219318939 219318939 single base substitution C T downstream_gene_variant ESAD-UK 2 219319653 219319653 single base substitution T A stop_lost *886C 2658A>T ESAD-UK 2 219319653 219319653 single base substitution T A stop_lost *980C 2940A>T ESAD-UK 2 219320579 219320579 single base substitution A G intron_variant ESAD-UK 2 219321080 219321080 single base substitution A C intron_variant ESAD-UK 2 219322655 219322655 single base substitution C T intron_variant ESAD-UK 2 219325433 219325433 single base substitution A C intron_variant ESAD-UK 2 219330788 219330788 single base substitution C T downstream_gene_variant ESAD-UK 2 219330788 219330788 single base substitution C T missense_variant R710H 2129G>A ESAD-UK 2 219330788 219330788 single base substitution C T missense_variant R804H 2411G>A ESAD-UK 2 219333073 219333073 single base substitution C T intron_variant ESAD-UK 2 219333187 219333193 deletion of <=200bp CCATCAG - intron_variant ESAD-UK 2 219338485 219338485 deletion of <=200bp A - downstream_gene_variant ESAD-UK 2 219338485 219338485 deletion of <=200bp A - intron_variant ESAD-UK 2 219339523 219339523 single base substitution G T downstream_gene_variant ESAD-UK 2 219339523 219339523 single base substitution G T exon_variant ESAD-UK 2 219339523 219339523 single base substitution G T missense_variant A616E 1847C>A ESAD-UK 2 219339523 219339523 single base substitution G T missense_variant A710E 2129C>A ESAD-UK 2 219340487 219340487 single base substitution C A downstream_gene_variant ESAD-UK 2 219340487 219340487 single base substitution C A intron_variant ESAD-UK 2 219344012 219344012 deletion of <=200bp A - intron_variant ESAD-UK 2 219344012 219344012 deletion of <=200bp A - upstream_gene_variant ESAD-UK 2 219344742 219344742 single base substitution G A intron_variant ESAD-UK 2 219344742 219344742 single base substitution G A upstream_gene_variant ESAD-UK 2 219348227 219348227 single base substitution G C intron_variant ESAD-UK 2 219348227 219348227 single base substitution G C upstream_gene_variant ESAD-UK 2 219349321 219349321 single base substitution G A intron_variant ESAD-UK 2 219349321 219349321 single base substitution G A upstream_gene_variant ESAD-UK 2 219349558 219349558 single base substitution C T intron_variant ESAD-UK 2 219350073 219350073 single base substitution C A intron_variant ESAD-UK 2 219350438 219350438 single base substitution T G exon_variant ESAD-UK 2 219350438 219350438 single base substitution T G missense_variant K468T 1403A>C ESAD-UK 2 219350438 219350438 single base substitution T G missense_variant K540T 1619A>C ESAD-UK 2 219352045 219352045 single base substitution C G intron_variant ESAD-UK 2 219352045 219352045 single base substitution C G upstream_gene_variant ESAD-UK 2 219355713 219355713 single base substitution T G downstream_gene_variant ESAD-UK 2 219355713 219355713 single base substitution T G intron_variant ESAD-UK 2 219355713 219355713 single base substitution T G upstream_gene_variant ESAD-UK 2 219356706 219356706 single base substitution T C downstream_gene_variant ESAD-UK 2 219356706 219356706 single base substitution T C intron_variant ESAD-UK 2 219357090 219357090 single base substitution A C downstream_gene_variant ESAD-UK 2 219357090 219357090 single base substitution A C intron_variant ESAD-UK 2 219357741 219357741 single base substitution A T downstream_gene_variant ESAD-UK 2 219357741 219357741 single base substitution A T intron_variant ESAD-UK 2 219357847 219357847 single base substitution A G downstream_gene_variant ESAD-UK 2 219357847 219357847 single base substitution A G intron_variant ESAD-UK 2 219364595 219364595 single base substitution C T intron_variant ESAD-UK 2 219364595 219364595 single base substitution C T upstream_gene_variant ESAD-UK 2 219366831 219366831 single base substitution A G intron_variant ESAD-UK 2 219366831 219366831 single base substitution A G upstream_gene_variant ESAD-UK 2 219371559 219371559 single base substitution G A downstream_gene_variant ESAD-UK 2 219371559 219371559 single base substitution G A intron_variant ESAD-UK 2 219374226 219374226 single base substitution C G downstream_gene_variant ESAD-UK 2 219374226 219374226 single base substitution C G intron_variant ESAD-UK 2 219374599 219374599 single base substitution T C downstream_gene_variant ESAD-UK 2 219374599 219374599 single base substitution T C intron_variant ESAD-UK 2 219375042 219375042 single base substitution C G intron_variant ESAD-UK 2 219375454 219375454 single base substitution G A intron_variant ESAD-UK 2 219375900 219375900 single base substitution T C intron_variant ESAD-UK 2 219376133 219376133 single base substitution G A intron_variant ESAD-UK 2 219377092 219377092 single base substitution T C intron_variant ESAD-UK 2 219377270 219377270 single base substitution G A intron_variant ESAD-UK 2 219377641 219377641 single base substitution A C intron_variant ESAD-UK 2 219378009 219378009 single base substitution C T intron_variant ESAD-UK 2 219378067 219378067 single base substitution G T intron_variant ESAD-UK 2 219378390 219378390 single base substitution C T intron_variant ESAD-UK 2 219383589 219383589 single base substitution A T intron_variant ESAD-UK 2 219383589 219383589 single base substitution A T upstream_gene_variant ESAD-UK 2 219386390 219386390 single base substitution A T intron_variant ESAD-UK 2 219389040 219389040 single base substitution C T downstream_gene_variant ESAD-UK 2 219389040 219389040 single base substitution C T intron_variant ESAD-UK 2 219390733 219390733 single base substitution G C downstream_gene_variant ESAD-UK 2 219390733 219390733 single base substitution G C intron_variant ESAD-UK 2 219390747 219390747 single base substitution C G downstream_gene_variant ESAD-UK 2 219390747 219390747 single base substitution C G intron_variant ESAD-UK 2 219391329 219391329 single base substitution A C downstream_gene_variant ESAD-UK 2 219391329 219391329 single base substitution A C intron_variant ESAD-UK 2 219392770 219392770 deletion of <=200bp A - downstream_gene_variant ESAD-UK 2 219392770 219392770 deletion of <=200bp A - intron_variant ESAD-UK 2 219393794 219393794 single base substitution T C intron_variant ESAD-UK 2 219393967 219393967 single base substitution G A intron_variant ESAD-UK 2 219394338 219394338 single base substitution A C intron_variant ESAD-UK 2 219395034 219395034 single base substitution G A intron_variant ESAD-UK 2 219395887 219395887 single base substitution G A intron_variant ESAD-UK 2 219399225 219399225 single base substitution A G intron_variant ESAD-UK 2 219400632 219400632 single base substitution C T intron_variant ESAD-UK 2 219401708 219401710 deletion of <=200bp ATG - intron_variant ESAD-UK 2 219401798 219401798 insertion of <=200bp - T intron_variant ESAD-UK 2 219403670 219403670 single base substitution C T intron_variant ESAD-UK 2 219405975 219405975 insertion of <=200bp - A intron_variant ESAD-UK 2 219407686 219407686 single base substitution C T intron_variant ESAD-UK 2 219412053 219412053 single base substitution A C intron_variant ESAD-UK 2 219413159 219413159 single base substitution G T intron_variant ESAD-UK 2 219413547 219413547 single base substitution G A intron_variant ESAD-UK 2 219413690 219413690 single base substitution C T intron_variant ESAD-UK 2 219414839 219414839 deletion of <=200bp A - intron_variant ESAD-UK 2 219414839 219414839 deletion of <=200bp A - upstream_gene_variant ESAD-UK 2 219415687 219415687 single base substitution C A intron_variant ESAD-UK 2 219415687 219415687 single base substitution C A upstream_gene_variant ESAD-UK 2 219425825 219425825 single base substitution C G intron_variant ESAD-UK 2 219425875 219425875 single base substitution C G intron_variant ESAD-UK 2 219429887 219429890 deletion of <=200bp CCGC - intron_variant ESAD-UK 2 219431762 219431762 single base substitution G A intron_variant ESAD-UK 2 219433135 219433135 single base substitution T G upstream_gene_variant ESAD-UK 2 219437839 219437839 single base substitution G A upstream_gene_variant ESCA-CN 2 219319553 219319553 single base substitution G A 3_prime_UTR_variant ESCA-CN 2 219319663 219319663 single base substitution T C missense_variant Q883R 2648A>G ESCA-CN 2 219319663 219319663 single base substitution T C missense_variant Q977R 2930A>G ESCA-CN 2 219362479 219362479 single base substitution C G downstream_gene_variant ESCA-CN 2 219362479 219362479 single base substitution C G exon_variant ESCA-CN 2 219362479 219362479 single base substitution C G missense_variant R348T 1043G>C ESCA-CN 2 219362479 219362479 single base substitution C G missense_variant R420T 1259G>C GACA-CN 2 219339589 219339589 single base substitution A G downstream_gene_variant GACA-CN 2 219339589 219339589 single base substitution A G exon_variant GACA-CN 2 219339589 219339589 single base substitution A G missense_variant I594T 1781T>C GACA-CN 2 219339589 219339589 single base substitution A G missense_variant I688T 2063T>C KIRC-US 2 219330750 219330750 single base substitution G T downstream_gene_variant KIRC-US 2 219330750 219330750 single base substitution G T missense_variant Q723K 2167C>A KIRC-US 2 219330750 219330750 single base substitution G T missense_variant Q817K 2449C>A KIRC-US 2 219353073 219353073 single base substitution G T missense_variant P443Q 1328C>A KIRC-US 2 219353073 219353073 single base substitution G T missense_variant P515Q 1544C>A KIRC-US 2 219353073 219353073 single base substitution G T upstream_gene_variant KIRC-US 2 219423354 219423354 single base substitution C A intron_variant KIRC-US 2 219423354 219423354 single base substitution C A missense_variant G8V 23G>T KIRP-US 2 219330816 219330816 single base substitution C T downstream_gene_variant KIRP-US 2 219330816 219330816 single base substitution C T missense_variant D701N 2101G>A KIRP-US 2 219330816 219330816 single base substitution C T missense_variant D795N 2383G>A LAML-KR 2 219322965 219322965 single base substitution C G intron_variant LAML-KR 2 219332736 219332736 single base substitution G A intron_variant LAML-KR 2 219357128 219357128 single base substitution G T downstream_gene_variant LAML-KR 2 219357128 219357128 single base substitution G T intron_variant LGG-US 2 219321847 219321847 single base substitution A C missense_variant V800G 2399T>G LGG-US 2 219321847 219321847 single base substitution A C missense_variant V894G 2681T>G LGG-US 2 219418446 219418446 single base substitution A G missense_variant L53P 158T>C LGG-US 2 219418446 219418446 single base substitution A G splice_region_variant LGG-US 2 219418446 219418446 single base substitution A G upstream_gene_variant LICA-CN 2 219399428 219399428 single base substitution T C intron_variant LICA-CN 2 219399428 219399428 single base substitution T C missense_variant N156D 466A>G LICA-CN 2 219399428 219399428 single base substitution T C missense_variant N228D 682A>G LICA-FR 2 219322396 219322396 single base substitution T C intron_variant LICA-FR 2 219322908 219322908 single base substitution T C intron_variant LICA-FR 2 219335318 219335318 single base substitution A G downstream_gene_variant LICA-FR 2 219335318 219335318 single base substitution A G intron_variant LICA-FR 2 219353260 219353260 single base substitution C T intron_variant LICA-FR 2 219353260 219353260 single base substitution C T upstream_gene_variant LICA-FR 2 219387286 219387287 deletion of <=200bp AA - intron_variant LICA-FR 2 219427887 219427887 insertion of <=200bp - A intron_variant LIHC-US 2 219423315 219423315 deletion of <=200bp T - frameshift_variant K21 LIHC-US 2 219423315 219423315 deletion of <=200bp T - intron_variant LINC-JP 2 219323451 219323451 single base substitution T C intron_variant LINC-JP 2 219327900 219327900 single base substitution C A downstream_gene_variant LINC-JP 2 219327900 219327900 single base substitution C A intron_variant LINC-JP 2 219327904 219327904 single base substitution C T downstream_gene_variant LINC-JP 2 219327904 219327904 single base substitution C T intron_variant LINC-JP 2 219327926 219327926 single base substitution C A downstream_gene_variant LINC-JP 2 219327926 219327926 single base substitution C A intron_variant LINC-JP 2 219330715 219330715 insertion of <=200bp - A downstream_gene_variant LINC-JP 2 219330715 219330715 insertion of <=200bp - A intron_variant LINC-JP 2 219330811 219330811 single base substitution C A downstream_gene_variant LINC-JP 2 219330811 219330811 single base substitution C A missense_variant W702C 2106G>T LINC-JP 2 219330811 219330811 single base substitution C A missense_variant W796C 2388G>T LINC-JP 2 219330812 219330812 single base substitution C A downstream_gene_variant LINC-JP 2 219330812 219330812 single base substitution C A missense_variant W702L 2105G>T LINC-JP 2 219330812 219330812 single base substitution C A missense_variant W796L 2387G>T LINC-JP 2 219348402 219348402 single base substitution T C intron_variant LINC-JP 2 219348402 219348402 single base substitution T C upstream_gene_variant LINC-JP 2 219349071 219349071 single base substitution G A intron_variant LINC-JP 2 219349071 219349071 single base substitution G A upstream_gene_variant LINC-JP 2 219353098 219353098 single base substitution T C missense_variant I435V 1303A>G LINC-JP 2 219353098 219353098 single base substitution T C missense_variant I507V 1519A>G LINC-JP 2 219353098 219353098 single base substitution T C upstream_gene_variant LINC-JP 2 219353110 219353110 single base substitution T C missense_variant N431D 1291A>G LINC-JP 2 219353110 219353110 single base substitution T C missense_variant N503D 1507A>G LINC-JP 2 219353110 219353110 single base substitution T C upstream_gene_variant LINC-JP 2 219359293 219359293 single base substitution A G downstream_gene_variant LINC-JP 2 219359293 219359293 single base substitution A G intron_variant LINC-JP 2 219361124 219361124 single base substitution G T downstream_gene_variant LINC-JP 2 219361124 219361124 single base substitution G T intron_variant LINC-JP 2 219361125 219361125 single base substitution T G downstream_gene_variant LINC-JP 2 219361125 219361125 single base substitution T G intron_variant LINC-JP 2 219361328 219361328 single base substitution G T downstream_gene_variant LINC-JP 2 219361328 219361328 single base substitution G T intron_variant LINC-JP 2 219372307 219372307 single base substitution T A downstream_gene_variant LINC-JP 2 219372307 219372307 single base substitution T A intron_variant LINC-JP 2 219376536 219376536 single base substitution T G intron_variant LINC-JP 2 219381537 219381537 single base substitution C T intron_variant LINC-JP 2 219381537 219381537 single base substitution C T upstream_gene_variant LINC-JP 2 219389525 219389525 single base substitution G A downstream_gene_variant LINC-JP 2 219389525 219389525 single base substitution G A intron_variant LINC-JP 2 219394802 219394802 single base substitution A T intron_variant LINC-JP 2 219399631 219399631 single base substitution T C intron_variant LINC-JP 2 219407318 219407318 single base substitution T C intron_variant LINC-JP 2 219411679 219411679 single base substitution T C exon_variant LINC-JP 2 219411679 219411679 single base substitution T C missense_variant T117A 349A>G LINC-JP 2 219411679 219411679 single base substitution T C missense_variant T189A 565A>G LINC-JP 2 219411927 219411927 single base substitution G A intron_variant LINC-JP 2 219412159 219412159 single base substitution G T intron_variant LINC-JP 2 219412160 219412160 single base substitution T G intron_variant LINC-JP 2 219413597 219413597 single base substitution A T intron_variant LINC-JP 2 219413598 219413598 single base substitution A T intron_variant LINC-JP 2 219417138 219417138 single base substitution T C intron_variant LINC-JP 2 219417138 219417138 single base substitution T C upstream_gene_variant LINC-JP 2 219422648 219422648 single base substitution T C intron_variant LIRI-JP 2 219313332 219313332 single base substitution T C downstream_gene_variant LIRI-JP 2 219314247 219314247 single base substitution G T downstream_gene_variant LIRI-JP 2 219314660 219314671 deletion of <=200bp CATATGCTACTT - downstream_gene_variant LIRI-JP 2 219314857 219314857 single base substitution G A downstream_gene_variant LIRI-JP 2 219315897 219315897 single base substitution T A 3_prime_UTR_variant LIRI-JP 2 219315897 219315897 single base substitution T A downstream_gene_variant LIRI-JP 2 219316272 219316272 single base substitution T A 3_prime_UTR_variant LIRI-JP 2 219316272 219316272 single base substitution T A downstream_gene_variant LIRI-JP 2 219320159 219320159 single base substitution T C intron_variant LIRI-JP 2 219323210 219323210 single base substitution G A intron_variant LIRI-JP 2 219323584 219323584 single base substitution G T intron_variant LIRI-JP 2 219323678 219323678 single base substitution T C intron_variant LIRI-JP 2 219324129 219324129 single base substitution T C intron_variant LIRI-JP 2 219324592 219324592 single base substitution T G missense_variant D761A 2282A>C LIRI-JP 2 219324592 219324592 single base substitution T G missense_variant D855A 2564A>C LIRI-JP 2 219326202 219326202 single base substitution C T downstream_gene_variant LIRI-JP 2 219326202 219326202 single base substitution C T intron_variant LIRI-JP 2 219326316 219326316 single base substitution T C downstream_gene_variant LIRI-JP 2 219326316 219326316 single base substitution T C intron_variant LIRI-JP 2 219329437 219329437 single base substitution G A downstream_gene_variant LIRI-JP 2 219329437 219329437 single base substitution G A intron_variant LIRI-JP 2 219329618 219329618 single base substitution C T downstream_gene_variant LIRI-JP 2 219329618 219329618 single base substitution C T intron_variant LIRI-JP 2 219332908 219332908 single base substitution C T intron_variant LIRI-JP 2 219335675 219335675 single base substitution T C downstream_gene_variant LIRI-JP 2 219335675 219335675 single base substitution T C intron_variant LIRI-JP 2 219338403 219338403 single base substitution C T downstream_gene_variant LIRI-JP 2 219338403 219338403 single base substitution C T intron_variant LIRI-JP 2 219341630 219341630 single base substitution G A downstream_gene_variant LIRI-JP 2 219341630 219341630 single base substitution G A exon_variant LIRI-JP 2 219341630 219341630 single base substitution G A missense_variant S565F 1694C>T LIRI-JP 2 219341630 219341630 single base substitution G A missense_variant S659F 1976C>T LIRI-JP 2 219342555 219342555 single base substitution C A intron_variant LIRI-JP 2 219342555 219342555 single base substitution C A upstream_gene_variant LIRI-JP 2 219344359 219344359 single base substitution G A intron_variant LIRI-JP 2 219344359 219344359 single base substitution G A upstream_gene_variant LIRI-JP 2 219345763 219345763 single base substitution T C intron_variant LIRI-JP 2 219345763 219345763 single base substitution T C upstream_gene_variant LIRI-JP 2 219346795 219346795 single base substitution T G splice_region_variant LIRI-JP 2 219346795 219346795 single base substitution T G upstream_gene_variant LIRI-JP 2 219347047 219347047 single base substitution T C intron_variant LIRI-JP 2 219347047 219347047 single base substitution T C upstream_gene_variant LIRI-JP 2 219353265 219353265 single base substitution G C intron_variant LIRI-JP 2 219353265 219353265 single base substitution G C upstream_gene_variant LIRI-JP 2 219354131 219354131 single base substitution C T intron_variant LIRI-JP 2 219354131 219354131 single base substitution C T upstream_gene_variant LIRI-JP 2 219354800 219354800 single base substitution C T intron_variant LIRI-JP 2 219354800 219354800 single base substitution C T upstream_gene_variant LIRI-JP 2 219355889 219355889 single base substitution G C downstream_gene_variant LIRI-JP 2 219355889 219355889 single base substitution G C intron_variant LIRI-JP 2 219355889 219355889 single base substitution G C upstream_gene_variant LIRI-JP 2 219356016 219356016 single base substitution G A downstream_gene_variant LIRI-JP 2 219356016 219356016 single base substitution G A intron_variant LIRI-JP 2 219356016 219356016 single base substitution G A upstream_gene_variant LIRI-JP 2 219356136 219356136 single base substitution T A downstream_gene_variant LIRI-JP 2 219356136 219356136 single base substitution T A intron_variant LIRI-JP 2 219357562 219357562 single base substitution T C downstream_gene_variant LIRI-JP 2 219357562 219357562 single base substitution T C intron_variant LIRI-JP 2 219357846 219357846 single base substitution T C downstream_gene_variant LIRI-JP 2 219357846 219357846 single base substitution T C intron_variant LIRI-JP 2 219360373 219360373 single base substitution C G downstream_gene_variant LIRI-JP 2 219360373 219360373 single base substitution C G intron_variant LIRI-JP 2 219361206 219361206 single base substitution C T downstream_gene_variant LIRI-JP 2 219361206 219361206 single base substitution C T intron_variant LIRI-JP 2 219363935 219363935 single base substitution T A intron_variant LIRI-JP 2 219363935 219363935 single base substitution T A upstream_gene_variant LIRI-JP 2 219366220 219366220 single base substitution T A intron_variant LIRI-JP 2 219366220 219366220 single base substitution T A upstream_gene_variant LIRI-JP 2 219367540 219367540 single base substitution T C intron_variant LIRI-JP 2 219367540 219367540 single base substitution T C upstream_gene_variant LIRI-JP 2 219367559 219367559 single base substitution C A intron_variant LIRI-JP 2 219367559 219367559 single base substitution C A upstream_gene_variant LIRI-JP 2 219368656 219368656 single base substitution T C intron_variant LIRI-JP 2 219369239 219369239 single base substitution T A intron_variant LIRI-JP 2 219371396 219371396 single base substitution T C downstream_gene_variant LIRI-JP 2 219371396 219371396 single base substitution T C intron_variant LIRI-JP 2 219371401 219371401 single base substitution A C downstream_gene_variant LIRI-JP 2 219371401 219371401 single base substitution A C intron_variant LIRI-JP 2 219374357 219374357 single base substitution T C downstream_gene_variant LIRI-JP 2 219374357 219374357 single base substitution T C intron_variant LIRI-JP 2 219374741 219374741 single base substitution C T exon_variant LIRI-JP 2 219374741 219374741 single base substitution C T missense_variant R257K 770G>A LIRI-JP 2 219374741 219374741 single base substitution C T missense_variant R329K 986G>A LIRI-JP 2 219375441 219375441 single base substitution T A intron_variant LIRI-JP 2 219377099 219377099 single base substitution G A intron_variant LIRI-JP 2 219379399 219379399 single base substitution T C intron_variant LIRI-JP 2 219379399 219379399 single base substitution T C upstream_gene_variant LIRI-JP 2 219379608 219379608 single base substitution T C intron_variant LIRI-JP 2 219379608 219379608 single base substitution T C upstream_gene_variant LIRI-JP 2 219384568 219384568 single base substitution C T intron_variant LIRI-JP 2 219385931 219385931 single base substitution C T intron_variant LIRI-JP 2 219390485 219390485 single base substitution G T downstream_gene_variant LIRI-JP 2 219390485 219390485 single base substitution G T intron_variant LIRI-JP 2 219392983 219392983 single base substitution T C downstream_gene_variant LIRI-JP 2 219392983 219392983 single base substitution T C intron_variant LIRI-JP 2 219394586 219394586 single base substitution T G intron_variant LIRI-JP 2 219396029 219396029 single base substitution T C intron_variant LIRI-JP 2 219396928 219396928 single base substitution C T intron_variant LIRI-JP 2 219398318 219398318 single base substitution G T intron_variant LIRI-JP 2 219398948 219398948 single base substitution C G intron_variant LIRI-JP 2 219399056 219399056 single base substitution T A intron_variant LIRI-JP 2 219399172 219399172 single base substitution A G intron_variant LIRI-JP 2 219400828 219400828 single base substitution C T intron_variant LIRI-JP 2 219403008 219403008 single base substitution T C intron_variant LIRI-JP 2 219403222 219403222 single base substitution G C intron_variant LIRI-JP 2 219403922 219403922 single base substitution T C intron_variant LIRI-JP 2 219407349 219407349 single base substitution C T intron_variant LIRI-JP 2 219407351 219407351 single base substitution G A intron_variant LIRI-JP 2 219409385 219409385 single base substitution G T intron_variant LIRI-JP 2 219409426 219409426 single base substitution A G intron_variant LIRI-JP 2 219410232 219410232 single base substitution T A intron_variant LIRI-JP 2 219410545 219410545 single base substitution C A intron_variant LIRI-JP 2 219411983 219411983 single base substitution T C intron_variant LIRI-JP 2 219414065 219414065 single base substitution G C intron_variant LIRI-JP 2 219414366 219414366 single base substitution T G intron_variant LIRI-JP 2 219415891 219415891 single base substitution T C intron_variant LIRI-JP 2 219415891 219415891 single base substitution T C upstream_gene_variant LIRI-JP 2 219417862 219417862 single base substitution G A intron_variant LIRI-JP 2 219417862 219417862 single base substitution G A upstream_gene_variant LIRI-JP 2 219419178 219419178 deletion of <=200bp G - intron_variant LIRI-JP 2 219419178 219419178 deletion of <=200bp G - upstream_gene_variant LIRI-JP 2 219419245 219419245 single base substitution A C intron_variant LIRI-JP 2 219419245 219419245 single base substitution A C upstream_gene_variant LIRI-JP 2 219421786 219421786 single base substitution C A intron_variant LIRI-JP 2 219424809 219424809 single base substitution T A intron_variant LIRI-JP 2 219424970 219424970 single base substitution T G intron_variant LIRI-JP 2 219427461 219427461 single base substitution C G 5_prime_UTR_variant LIRI-JP 2 219428739 219428739 single base substitution A T intron_variant LIRI-JP 2 219431125 219431125 single base substitution G T intron_variant LIRI-JP 2 219437147 219437147 single base substitution C T upstream_gene_variant LIRI-JP 2 219438021 219438021 single base substitution A G upstream_gene_variant LUSC-KR 2 219319355 219319355 single base substitution C G 3_prime_UTR_variant LUSC-KR 2 219319355 219319355 single base substitution C G downstream_gene_variant LUSC-KR 2 219320528 219320528 single base substitution T C intron_variant LUSC-KR 2 219337031 219337031 single base substitution T A downstream_gene_variant LUSC-KR 2 219337031 219337031 single base substitution T A intron_variant LUSC-KR 2 219348309 219348309 single base substitution C T intron_variant LUSC-KR 2 219348309 219348309 single base substitution C T upstream_gene_variant LUSC-KR 2 219352921 219352921 single base substitution G A intron_variant LUSC-KR 2 219352921 219352921 single base substitution G A upstream_gene_variant LUSC-KR 2 219361488 219361488 single base substitution C T downstream_gene_variant LUSC-KR 2 219361488 219361488 single base substitution C T intron_variant LUSC-KR 2 219365496 219365496 single base substitution T C intron_variant LUSC-KR 2 219365496 219365496 single base substitution T C upstream_gene_variant LUSC-KR 2 219367240 219367240 single base substitution T C intron_variant LUSC-KR 2 219367240 219367240 single base substitution T C upstream_gene_variant LUSC-KR 2 219369751 219369751 single base substitution G T downstream_gene_variant LUSC-KR 2 219369751 219369751 single base substitution G T intron_variant LUSC-KR 2 219384415 219384415 single base substitution T C intron_variant LUSC-KR 2 219385122 219385122 single base substitution G C intron_variant LUSC-KR 2 219389126 219389126 single base substitution C G downstream_gene_variant LUSC-KR 2 219389126 219389126 single base substitution C G intron_variant LUSC-KR 2 219389127 219389127 single base substitution C A downstream_gene_variant LUSC-KR 2 219389127 219389127 single base substitution C A intron_variant LUSC-KR 2 219393914 219393914 single base substitution C A intron_variant LUSC-KR 2 219394076 219394076 single base substitution G A intron_variant LUSC-KR 2 219395917 219395917 single base substitution C G intron_variant LUSC-KR 2 219399707 219399707 single base substitution T C intron_variant LUSC-KR 2 219409271 219409271 single base substitution G C intron_variant LUSC-KR 2 219413183 219413183 single base substitution T A intron_variant LUSC-KR 2 219427491 219427491 single base substitution C T 5_prime_UTR_variant LUSC-US 2 219328034 219328034 single base substitution A C downstream_gene_variant LUSC-US 2 219328034 219328034 single base substitution A C missense_variant L747R 2240T>G LUSC-US 2 219328034 219328034 single base substitution A C missense_variant L841R 2522T>G LUSC-US 2 219346935 219346935 single base substitution G A exon_variant LUSC-US 2 219346935 219346935 single base substitution G A stop_gained R493* 1477C>T LUSC-US 2 219346935 219346935 single base substitution G A stop_gained R565* 1693C>T LUSC-US 2 219346935 219346935 single base substitution G A upstream_gene_variant LUSC-US 2 219350415 219350415 single base substitution C A exon_variant LUSC-US 2 219350415 219350415 single base substitution C A missense_variant V476F 1426G>T LUSC-US 2 219350415 219350415 single base substitution C A missense_variant V548F 1642G>T LUSC-US 2 219360482 219360482 single base substitution C T downstream_gene_variant LUSC-US 2 219360482 219360482 single base substitution C T splice_donor_variant LUSC-US 2 219394731 219394731 single base substitution C A exon_variant LUSC-US 2 219394731 219394731 single base substitution C A missense_variant G199C 595G>T LUSC-US 2 219394731 219394731 single base substitution C A missense_variant G271C 811G>T MALY-DE 2 219314536 219314536 single base substitution T C downstream_gene_variant MALY-DE 2 219319337 219319338 deletion of <=200bp GT - 3_prime_UTR_variant MALY-DE 2 219319337 219319338 deletion of <=200bp GT - downstream_gene_variant MALY-DE 2 219331915 219331915 single base substitution T C intron_variant MALY-DE 2 219341139 219341139 single base substitution A T downstream_gene_variant MALY-DE 2 219341139 219341139 single base substitution A T intron_variant MALY-DE 2 219357749 219357749 single base substitution T C downstream_gene_variant MALY-DE 2 219357749 219357749 single base substitution T C intron_variant MALY-DE 2 219397013 219397013 single base substitution A C intron_variant MALY-DE 2 219412934 219412934 single base substitution T A intron_variant MALY-DE 2 219413489 219413489 single base substitution A C intron_variant MALY-DE 2 219421884 219421884 single base substitution G A intron_variant MALY-DE 2 219427301 219427301 single base substitution C T intron_variant MALY-DE 2 219433021 219433021 single base substitution C T 5_prime_UTR_variant MALY-DE 2 219433021 219433021 single base substitution C T upstream_gene_variant MELA-AU 2 219309977 219309977 single base substitution G C downstream_gene_variant MELA-AU 2 219310409 219310409 single base substitution G A downstream_gene_variant MELA-AU 2 219310476 219310476 single base substitution G A downstream_gene_variant MELA-AU 2 219310508 219310508 single base substitution G A downstream_gene_variant MELA-AU 2 219310550 219310550 single base substitution A T downstream_gene_variant MELA-AU 2 219310816 219310816 single base substitution G A downstream_gene_variant MELA-AU 2 219310917 219310917 single base substitution C T downstream_gene_variant MELA-AU 2 219311702 219311702 single base substitution G A downstream_gene_variant MELA-AU 2 219312626 219312626 single base substitution C T downstream_gene_variant MELA-AU 2 219312889 219312889 single base substitution G A downstream_gene_variant MELA-AU 2 219313057 219313057 single base substitution G A downstream_gene_variant MELA-AU 2 219313211 219313212 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 219313441 219313441 single base substitution G A downstream_gene_variant MELA-AU 2 219313452 219313452 single base substitution G A downstream_gene_variant MELA-AU 2 219313512 219313512 single base substitution G A downstream_gene_variant MELA-AU 2 219313520 219313520 single base substitution G A downstream_gene_variant MELA-AU 2 219315969 219315969 single base substitution G A 3_prime_UTR_variant MELA-AU 2 219315969 219315969 single base substitution G A downstream_gene_variant MELA-AU 2 219318001 219318002 multiple base substitution (>=2bp and <=200bp) AA TT 3_prime_UTR_variant MELA-AU 2 219318001 219318002 multiple base substitution (>=2bp and <=200bp) AA TT downstream_gene_variant MELA-AU 2 219318089 219318089 single base substitution G A 3_prime_UTR_variant MELA-AU 2 219318089 219318089 single base substitution G A downstream_gene_variant MELA-AU 2 219318518 219318518 single base substitution G A 3_prime_UTR_variant MELA-AU 2 219318518 219318518 single base substitution G A downstream_gene_variant MELA-AU 2 219318964 219318964 single base substitution G A 3_prime_UTR_variant MELA-AU 2 219318964 219318964 single base substitution G A downstream_gene_variant MELA-AU 2 219319234 219319234 single base substitution G A 3_prime_UTR_variant MELA-AU 2 219319234 219319234 single base substitution G A downstream_gene_variant MELA-AU 2 219319642 219319642 single base substitution G A 3_prime_UTR_variant MELA-AU 2 219320177 219320177 single base substitution G A intron_variant MELA-AU 2 219320978 219320978 single base substitution C T intron_variant MELA-AU 2 219321700 219321700 single base substitution A C intron_variant MELA-AU 2 219322472 219322472 single base substitution A G intron_variant MELA-AU 2 219322883 219322883 single base substitution G A intron_variant MELA-AU 2 219323334 219323334 single base substitution A G intron_variant MELA-AU 2 219323792 219323792 single base substitution G A intron_variant MELA-AU 2 219323793 219323793 single base substitution G A intron_variant MELA-AU 2 219324417 219324417 single base substitution A G intron_variant MELA-AU 2 219324667 219324667 single base substitution G A intron_variant MELA-AU 2 219325572 219325572 single base substitution G A intron_variant MELA-AU 2 219325719 219325719 single base substitution G A intron_variant MELA-AU 2 219326245 219326245 single base substitution G A downstream_gene_variant MELA-AU 2 219326245 219326245 single base substitution G A intron_variant MELA-AU 2 219326480 219326480 single base substitution G A downstream_gene_variant MELA-AU 2 219326480 219326480 single base substitution G A intron_variant MELA-AU 2 219326991 219326991 single base substitution G T downstream_gene_variant MELA-AU 2 219326991 219326991 single base substitution G T intron_variant MELA-AU 2 219327480 219327480 single base substitution G A downstream_gene_variant MELA-AU 2 219327480 219327480 single base substitution G A intron_variant MELA-AU 2 219327640 219327640 single base substitution G C downstream_gene_variant MELA-AU 2 219327640 219327640 single base substitution G C intron_variant MELA-AU 2 219327665 219327665 single base substitution G A downstream_gene_variant MELA-AU 2 219327665 219327665 single base substitution G A intron_variant MELA-AU 2 219328039 219328039 single base substitution T C downstream_gene_variant MELA-AU 2 219328039 219328039 single base substitution T C synonymous_variant L745L 2235A>G MELA-AU 2 219328039 219328039 single base substitution T C synonymous_variant L839L 2517A>G MELA-AU 2 219328466 219328466 single base substitution G A downstream_gene_variant MELA-AU 2 219328466 219328466 single base substitution G A intron_variant MELA-AU 2 219329928 219329928 single base substitution A G downstream_gene_variant MELA-AU 2 219329928 219329928 single base substitution A G intron_variant MELA-AU 2 219330587 219330587 single base substitution G A downstream_gene_variant MELA-AU 2 219330587 219330587 single base substitution G A intron_variant MELA-AU 2 219332504 219332504 single base substitution G A intron_variant MELA-AU 2 219332952 219332952 single base substitution A T intron_variant MELA-AU 2 219332977 219332977 single base substitution G A intron_variant MELA-AU 2 219333715 219333715 single base substitution G A intron_variant MELA-AU 2 219334353 219334353 single base substitution G A intron_variant MELA-AU 2 219335805 219335805 single base substitution A G downstream_gene_variant MELA-AU 2 219335805 219335805 single base substitution A G intron_variant MELA-AU 2 219336524 219336524 single base substitution G A downstream_gene_variant MELA-AU 2 219336524 219336524 single base substitution G A intron_variant MELA-AU 2 219336563 219336563 single base substitution A G downstream_gene_variant MELA-AU 2 219336563 219336563 single base substitution A G intron_variant MELA-AU 2 219336881 219336881 single base substitution G A downstream_gene_variant MELA-AU 2 219336881 219336881 single base substitution G A intron_variant MELA-AU 2 219337251 219337258 deletion of <=200bp ATATCGGC - downstream_gene_variant MELA-AU 2 219337251 219337258 deletion of <=200bp ATATCGGC - intron_variant MELA-AU 2 219337734 219337734 single base substitution G A downstream_gene_variant MELA-AU 2 219337734 219337734 single base substitution G A intron_variant MELA-AU 2 219337805 219337805 single base substitution G C downstream_gene_variant MELA-AU 2 219337805 219337805 single base substitution G C intron_variant MELA-AU 2 219339155 219339155 single base substitution G A downstream_gene_variant MELA-AU 2 219339155 219339155 single base substitution G A intron_variant MELA-AU 2 219339219 219339219 single base substitution G A downstream_gene_variant MELA-AU 2 219339219 219339219 single base substitution G A intron_variant MELA-AU 2 219340694 219340694 single base substitution G A downstream_gene_variant MELA-AU 2 219340694 219340694 single base substitution G A intron_variant MELA-AU 2 219341089 219341089 single base substitution G A downstream_gene_variant MELA-AU 2 219341089 219341089 single base substitution G A intron_variant MELA-AU 2 219341799 219341799 single base substitution G A intron_variant MELA-AU 2 219341799 219341799 single base substitution G A upstream_gene_variant MELA-AU 2 219342654 219342654 single base substitution T C intron_variant MELA-AU 2 219342654 219342654 single base substitution T C upstream_gene_variant MELA-AU 2 219342913 219342913 single base substitution T A intron_variant MELA-AU 2 219342913 219342913 single base substitution T A upstream_gene_variant MELA-AU 2 219344150 219344150 single base substitution G A intron_variant MELA-AU 2 219344150 219344150 single base substitution G A upstream_gene_variant MELA-AU 2 219348353 219348353 single base substitution G A intron_variant MELA-AU 2 219348353 219348353 single base substitution G A upstream_gene_variant MELA-AU 2 219348384 219348384 single base substitution C T intron_variant MELA-AU 2 219348384 219348384 single base substitution C T upstream_gene_variant MELA-AU 2 219348536 219348536 single base substitution C T intron_variant MELA-AU 2 219348536 219348536 single base substitution C T upstream_gene_variant MELA-AU 2 219348801 219348801 single base substitution G A intron_variant MELA-AU 2 219348801 219348801 single base substitution G A upstream_gene_variant MELA-AU 2 219348869 219348869 single base substitution G A intron_variant MELA-AU 2 219348869 219348869 single base substitution G A upstream_gene_variant MELA-AU 2 219349164 219349164 single base substitution G A intron_variant MELA-AU 2 219349164 219349164 single base substitution G A upstream_gene_variant MELA-AU 2 219349211 219349211 single base substitution G A intron_variant MELA-AU 2 219349211 219349211 single base substitution G A upstream_gene_variant MELA-AU 2 219349212 219349212 single base substitution G A intron_variant MELA-AU 2 219349212 219349212 single base substitution G A upstream_gene_variant MELA-AU 2 219349323 219349324 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 219349323 219349324 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 219349378 219349378 single base substitution C A intron_variant MELA-AU 2 219349378 219349378 single base substitution C A upstream_gene_variant MELA-AU 2 219349390 219349390 single base substitution C A intron_variant MELA-AU 2 219349390 219349390 single base substitution C A upstream_gene_variant MELA-AU 2 219350497 219350497 single base substitution G A intron_variant MELA-AU 2 219350584 219350584 single base substitution T A intron_variant MELA-AU 2 219350598 219350598 single base substitution C G intron_variant MELA-AU 2 219350897 219350897 single base substitution G A exon_variant MELA-AU 2 219350897 219350897 single base substitution G A intron_variant MELA-AU 2 219351718 219351718 single base substitution G A intron_variant MELA-AU 2 219351718 219351718 single base substitution G A upstream_gene_variant MELA-AU 2 219351832 219351832 single base substitution G A intron_variant MELA-AU 2 219351832 219351832 single base substitution G A upstream_gene_variant MELA-AU 2 219351898 219351898 single base substitution C T intron_variant MELA-AU 2 219351898 219351898 single base substitution C T upstream_gene_variant MELA-AU 2 219352148 219352148 single base substitution C T intron_variant MELA-AU 2 219352148 219352148 single base substitution C T upstream_gene_variant MELA-AU 2 219352202 219352202 single base substitution G A intron_variant MELA-AU 2 219352202 219352202 single base substitution G A upstream_gene_variant MELA-AU 2 219353089 219353089 single base substitution G A missense_variant P438S 1312C>T MELA-AU 2 219353089 219353089 single base substitution G A missense_variant P510S 1528C>T MELA-AU 2 219353089 219353089 single base substitution G A upstream_gene_variant MELA-AU 2 219353376 219353376 single base substitution G A intron_variant MELA-AU 2 219353376 219353376 single base substitution G A upstream_gene_variant MELA-AU 2 219354471 219354471 single base substitution G A intron_variant MELA-AU 2 219354471 219354471 single base substitution G A upstream_gene_variant MELA-AU 2 219354570 219354570 single base substitution G A intron_variant MELA-AU 2 219354570 219354570 single base substitution G A upstream_gene_variant MELA-AU 2 219355333 219355333 single base substitution G A intron_variant MELA-AU 2 219355333 219355333 single base substitution G A upstream_gene_variant MELA-AU 2 219355397 219355397 single base substitution G A intron_variant MELA-AU 2 219355397 219355397 single base substitution G A upstream_gene_variant MELA-AU 2 219355507 219355507 single base substitution G A downstream_gene_variant MELA-AU 2 219355507 219355507 single base substitution G A intron_variant MELA-AU 2 219355507 219355507 single base substitution G A upstream_gene_variant MELA-AU 2 219355688 219355688 single base substitution C T downstream_gene_variant MELA-AU 2 219355688 219355688 single base substitution C T intron_variant MELA-AU 2 219355688 219355688 single base substitution C T upstream_gene_variant MELA-AU 2 219356119 219356119 single base substitution G A downstream_gene_variant MELA-AU 2 219356119 219356119 single base substitution G A intron_variant MELA-AU 2 219356799 219356799 single base substitution C T downstream_gene_variant MELA-AU 2 219356799 219356799 single base substitution C T intron_variant MELA-AU 2 219356965 219356965 single base substitution T C downstream_gene_variant MELA-AU 2 219356965 219356965 single base substitution T C intron_variant MELA-AU 2 219357052 219357052 single base substitution G A downstream_gene_variant MELA-AU 2 219357052 219357052 single base substitution G A intron_variant MELA-AU 2 219357210 219357210 single base substitution G A downstream_gene_variant MELA-AU 2 219357210 219357210 single base substitution G A intron_variant MELA-AU 2 219357375 219357375 single base substitution G A downstream_gene_variant MELA-AU 2 219357375 219357375 single base substitution G A intron_variant MELA-AU 2 219357921 219357921 single base substitution G A downstream_gene_variant MELA-AU 2 219357921 219357921 single base substitution G A intron_variant MELA-AU 2 219358414 219358414 single base substitution G A downstream_gene_variant MELA-AU 2 219358414 219358414 single base substitution G A intron_variant MELA-AU 2 219358836 219358836 single base substitution G A downstream_gene_variant MELA-AU 2 219358836 219358836 single base substitution G A intron_variant MELA-AU 2 219359594 219359594 single base substitution G A downstream_gene_variant MELA-AU 2 219359594 219359594 single base substitution G A intron_variant MELA-AU 2 219359613 219359613 single base substitution G A downstream_gene_variant MELA-AU 2 219359613 219359613 single base substitution G A intron_variant MELA-AU 2 219360730 219360730 single base substitution A G downstream_gene_variant MELA-AU 2 219360730 219360730 single base substitution A G intron_variant MELA-AU 2 219361159 219361159 single base substitution G A downstream_gene_variant MELA-AU 2 219361159 219361159 single base substitution G A intron_variant MELA-AU 2 219363564 219363564 single base substitution C T intron_variant MELA-AU 2 219363564 219363564 single base substitution C T upstream_gene_variant MELA-AU 2 219363892 219363892 single base substitution G A intron_variant MELA-AU 2 219363892 219363892 single base substitution G A upstream_gene_variant MELA-AU 2 219364595 219364595 single base substitution C T intron_variant MELA-AU 2 219364595 219364595 single base substitution C T upstream_gene_variant MELA-AU 2 219364968 219364968 single base substitution T C intron_variant MELA-AU 2 219364968 219364968 single base substitution T C upstream_gene_variant MELA-AU 2 219365007 219365007 single base substitution G A intron_variant MELA-AU 2 219365007 219365007 single base substitution G A upstream_gene_variant MELA-AU 2 219366506 219366506 single base substitution G A intron_variant MELA-AU 2 219366506 219366506 single base substitution G A upstream_gene_variant MELA-AU 2 219366937 219366937 single base substitution A T intron_variant MELA-AU 2 219366937 219366937 single base substitution A T upstream_gene_variant MELA-AU 2 219366980 219366980 single base substitution A T intron_variant MELA-AU 2 219366980 219366980 single base substitution A T upstream_gene_variant MELA-AU 2 219367908 219367908 single base substitution G A intron_variant MELA-AU 2 219367908 219367908 single base substitution G A upstream_gene_variant MELA-AU 2 219368082 219368082 single base substitution G A intron_variant MELA-AU 2 219368082 219368082 single base substitution G A upstream_gene_variant MELA-AU 2 219368364 219368364 single base substitution G A intron_variant MELA-AU 2 219368881 219368882 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 219369212 219369212 single base substitution G A intron_variant MELA-AU 2 219369282 219369283 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 219369524 219369524 single base substitution G A intron_variant MELA-AU 2 219370546 219370546 single base substitution G A downstream_gene_variant MELA-AU 2 219370546 219370546 single base substitution G A intron_variant MELA-AU 2 219371130 219371130 single base substitution C A downstream_gene_variant MELA-AU 2 219371130 219371130 single base substitution C A intron_variant MELA-AU 2 219371462 219371462 single base substitution G A downstream_gene_variant MELA-AU 2 219371462 219371462 single base substitution G A intron_variant MELA-AU 2 219371747 219371747 single base substitution C T downstream_gene_variant MELA-AU 2 219371747 219371747 single base substitution C T intron_variant MELA-AU 2 219372649 219372649 single base substitution G A downstream_gene_variant MELA-AU 2 219372649 219372649 single base substitution G A intron_variant MELA-AU 2 219373412 219373412 single base substitution G A downstream_gene_variant MELA-AU 2 219373412 219373412 single base substitution G A intron_variant MELA-AU 2 219373418 219373418 single base substitution A G downstream_gene_variant MELA-AU 2 219373418 219373418 single base substitution A G intron_variant MELA-AU 2 219374399 219374399 single base substitution C T downstream_gene_variant MELA-AU 2 219374399 219374399 single base substitution C T intron_variant MELA-AU 2 219376166 219376166 single base substitution G A intron_variant MELA-AU 2 219376268 219376268 single base substitution G A intron_variant MELA-AU 2 219376502 219376502 single base substitution A C intron_variant MELA-AU 2 219376709 219376709 single base substitution C G intron_variant MELA-AU 2 219377823 219377823 insertion of <=200bp - AT intron_variant MELA-AU 2 219378267 219378267 single base substitution C T intron_variant MELA-AU 2 219378931 219378931 single base substitution G A intron_variant MELA-AU 2 219380257 219380257 single base substitution G A intron_variant MELA-AU 2 219380257 219380257 single base substitution G A upstream_gene_variant MELA-AU 2 219380496 219380496 single base substitution G A intron_variant MELA-AU 2 219380496 219380496 single base substitution G A upstream_gene_variant MELA-AU 2 219380499 219380499 single base substitution G A intron_variant MELA-AU 2 219380499 219380499 single base substitution G A upstream_gene_variant MELA-AU 2 219380873 219380873 single base substitution C T intron_variant MELA-AU 2 219380873 219380873 single base substitution C T upstream_gene_variant MELA-AU 2 219382371 219382371 single base substitution T A intron_variant MELA-AU 2 219382371 219382371 single base substitution T A upstream_gene_variant MELA-AU 2 219382463 219382463 single base substitution A G intron_variant MELA-AU 2 219382463 219382463 single base substitution A G upstream_gene_variant MELA-AU 2 219382581 219382581 single base substitution A G intron_variant MELA-AU 2 219382581 219382581 single base substitution A G upstream_gene_variant MELA-AU 2 219382916 219382916 single base substitution G A intron_variant MELA-AU 2 219382916 219382916 single base substitution G A upstream_gene_variant MELA-AU 2 219383737 219383737 single base substitution T C intron_variant MELA-AU 2 219383737 219383737 single base substitution T C upstream_gene_variant MELA-AU 2 219384289 219384289 single base substitution G A intron_variant MELA-AU 2 219384406 219384406 single base substitution G T intron_variant MELA-AU 2 219384472 219384472 single base substitution G A intron_variant MELA-AU 2 219384491 219384491 single base substitution C T intron_variant MELA-AU 2 219385343 219385343 single base substitution G A intron_variant MELA-AU 2 219387881 219387881 single base substitution G A intron_variant MELA-AU 2 219388707 219388707 single base substitution G A downstream_gene_variant MELA-AU 2 219388707 219388707 single base substitution G A intron_variant MELA-AU 2 219389057 219389057 single base substitution A C downstream_gene_variant MELA-AU 2 219389057 219389057 single base substitution A C intron_variant MELA-AU 2 219389245 219389245 single base substitution T C downstream_gene_variant MELA-AU 2 219389245 219389245 single base substitution T C intron_variant MELA-AU 2 219390456 219390456 single base substitution T C downstream_gene_variant MELA-AU 2 219390456 219390456 single base substitution T C intron_variant MELA-AU 2 219390698 219390698 single base substitution T A downstream_gene_variant MELA-AU 2 219390698 219390698 single base substitution T A intron_variant MELA-AU 2 219391365 219391365 single base substitution G A downstream_gene_variant MELA-AU 2 219391365 219391365 single base substitution G A intron_variant MELA-AU 2 219392337 219392337 single base substitution G A downstream_gene_variant MELA-AU 2 219392337 219392337 single base substitution G A intron_variant MELA-AU 2 219392370 219392370 single base substitution G A downstream_gene_variant MELA-AU 2 219392370 219392370 single base substitution G A intron_variant MELA-AU 2 219392649 219392649 single base substitution G A downstream_gene_variant MELA-AU 2 219392649 219392649 single base substitution G A intron_variant MELA-AU 2 219393665 219393665 single base substitution G A intron_variant MELA-AU 2 219394102 219394102 single base substitution C T intron_variant MELA-AU 2 219394488 219394488 single base substitution G A intron_variant MELA-AU 2 219395162 219395162 single base substitution G A intron_variant MELA-AU 2 219395173 219395173 deletion of <=200bp A - intron_variant MELA-AU 2 219395608 219395608 single base substitution G A intron_variant MELA-AU 2 219396119 219396119 single base substitution C T intron_variant MELA-AU 2 219396630 219396630 single base substitution G A intron_variant MELA-AU 2 219398569 219398569 single base substitution G A intron_variant MELA-AU 2 219399095 219399095 single base substitution C T intron_variant MELA-AU 2 219400016 219400016 single base substitution G A intron_variant MELA-AU 2 219400205 219400205 single base substitution C T intron_variant MELA-AU 2 219401740 219401740 single base substitution G A intron_variant MELA-AU 2 219401864 219401864 single base substitution G A intron_variant MELA-AU 2 219401893 219401893 single base substitution C T intron_variant MELA-AU 2 219403094 219403094 single base substitution G A intron_variant MELA-AU 2 219403108 219403108 single base substitution G A intron_variant MELA-AU 2 219404142 219404142 single base substitution A G intron_variant MELA-AU 2 219404456 219404456 single base substitution C T intron_variant MELA-AU 2 219404660 219404660 single base substitution G A intron_variant MELA-AU 2 219404947 219404947 single base substitution G A intron_variant MELA-AU 2 219405084 219405085 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 219406241 219406242 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 219406807 219406807 single base substitution G A intron_variant MELA-AU 2 219406941 219406941 single base substitution G T intron_variant MELA-AU 2 219406973 219406973 single base substitution G A intron_variant MELA-AU 2 219406974 219406974 single base substitution G A intron_variant MELA-AU 2 219407027 219407027 single base substitution C A intron_variant MELA-AU 2 219407074 219407074 single base substitution G A intron_variant MELA-AU 2 219407361 219407362 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 219408516 219408516 single base substitution G A intron_variant MELA-AU 2 219408522 219408522 single base substitution C T intron_variant MELA-AU 2 219409805 219409805 single base substitution C T intron_variant MELA-AU 2 219410714 219410714 single base substitution A G intron_variant MELA-AU 2 219411029 219411029 single base substitution G A splice_region_variant MELA-AU 2 219411237 219411237 single base substitution G C intron_variant MELA-AU 2 219411262 219411262 single base substitution C T intron_variant MELA-AU 2 219411452 219411452 single base substitution T A intron_variant MELA-AU 2 219413434 219413434 single base substitution G A intron_variant MELA-AU 2 219414524 219414524 single base substitution G A intron_variant MELA-AU 2 219414524 219414524 single base substitution G A splice_region_variant MELA-AU 2 219416206 219416206 single base substitution G A intron_variant MELA-AU 2 219416206 219416206 single base substitution G A upstream_gene_variant MELA-AU 2 219416373 219416373 single base substitution G A intron_variant MELA-AU 2 219416373 219416373 single base substitution G A upstream_gene_variant MELA-AU 2 219416443 219416443 single base substitution G A intron_variant MELA-AU 2 219416443 219416443 single base substitution G A upstream_gene_variant MELA-AU 2 219416565 219416565 single base substitution G A intron_variant MELA-AU 2 219416565 219416565 single base substitution G A upstream_gene_variant MELA-AU 2 219416784 219416784 single base substitution G A intron_variant MELA-AU 2 219416784 219416784 single base substitution G A upstream_gene_variant MELA-AU 2 219416953 219416953 single base substitution G A intron_variant MELA-AU 2 219416953 219416953 single base substitution G A upstream_gene_variant MELA-AU 2 219417131 219417131 single base substitution G A intron_variant MELA-AU 2 219417131 219417131 single base substitution G A upstream_gene_variant MELA-AU 2 219417163 219417163 single base substitution G A intron_variant MELA-AU 2 219417163 219417163 single base substitution G A upstream_gene_variant MELA-AU 2 219417665 219417665 single base substitution C T intron_variant MELA-AU 2 219417665 219417665 single base substitution C T upstream_gene_variant MELA-AU 2 219417669 219417669 single base substitution T C intron_variant MELA-AU 2 219417669 219417669 single base substitution T C upstream_gene_variant MELA-AU 2 219417673 219417673 single base substitution T C intron_variant MELA-AU 2 219417673 219417673 single base substitution T C upstream_gene_variant MELA-AU 2 219417895 219417895 single base substitution G A intron_variant MELA-AU 2 219417895 219417895 single base substitution G A upstream_gene_variant MELA-AU 2 219418464 219418464 single base substitution G A intron_variant MELA-AU 2 219418464 219418464 single base substitution G A upstream_gene_variant MELA-AU 2 219418703 219418703 single base substitution G A intron_variant MELA-AU 2 219418703 219418703 single base substitution G A upstream_gene_variant MELA-AU 2 219419202 219419202 single base substitution G A intron_variant MELA-AU 2 219419202 219419202 single base substitution G A upstream_gene_variant MELA-AU 2 219419365 219419365 single base substitution G A intron_variant MELA-AU 2 219419365 219419365 single base substitution G A upstream_gene_variant MELA-AU 2 219419829 219419829 single base substitution G A intron_variant MELA-AU 2 219420067 219420067 single base substitution A T intron_variant MELA-AU 2 219420166 219420166 single base substitution G A intron_variant MELA-AU 2 219420188 219420188 single base substitution G C intron_variant MELA-AU 2 219420800 219420800 single base substitution G A intron_variant MELA-AU 2 219421561 219421561 single base substitution G A intron_variant MELA-AU 2 219421800 219421800 single base substitution C T intron_variant MELA-AU 2 219421895 219421896 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 219421943 219421943 single base substitution G A intron_variant MELA-AU 2 219422637 219422637 single base substitution G A intron_variant MELA-AU 2 219422658 219422658 single base substitution A C intron_variant MELA-AU 2 219423235 219423235 single base substitution G A intron_variant MELA-AU 2 219423235 219423235 single base substitution G A missense_variant P48S 142C>T MELA-AU 2 219423828 219423828 single base substitution G A intron_variant MELA-AU 2 219423853 219423853 single base substitution G A intron_variant MELA-AU 2 219424376 219424376 single base substitution G A intron_variant MELA-AU 2 219424679 219424679 single base substitution G C intron_variant MELA-AU 2 219425212 219425212 single base substitution G A intron_variant MELA-AU 2 219425320 219425320 single base substitution G A intron_variant MELA-AU 2 219425640 219425640 single base substitution C A intron_variant MELA-AU 2 219425793 219425793 single base substitution T G intron_variant MELA-AU 2 219426824 219426824 single base substitution A T intron_variant MELA-AU 2 219427598 219427598 single base substitution G A intron_variant MELA-AU 2 219429146 219429146 single base substitution G A intron_variant MELA-AU 2 219429151 219429151 single base substitution A G intron_variant MELA-AU 2 219429866 219429866 single base substitution G A intron_variant MELA-AU 2 219429884 219429884 single base substitution G A intron_variant MELA-AU 2 219429928 219429928 single base substitution G A intron_variant MELA-AU 2 219430122 219430122 single base substitution G A intron_variant MELA-AU 2 219431476 219431476 single base substitution G A intron_variant MELA-AU 2 219432678 219432678 single base substitution G A intron_variant MELA-AU 2 219433128 219433128 single base substitution C T upstream_gene_variant MELA-AU 2 219433129 219433129 single base substitution G A upstream_gene_variant MELA-AU 2 219433251 219433251 single base substitution C T upstream_gene_variant MELA-AU 2 219434688 219434688 single base substitution T G upstream_gene_variant MELA-AU 2 219434829 219434829 single base substitution G A upstream_gene_variant MELA-AU 2 219435657 219435657 single base substitution T A upstream_gene_variant MELA-AU 2 219436562 219436562 single base substitution C G upstream_gene_variant MELA-AU 2 219436991 219436992 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 219437654 219437654 single base substitution C T upstream_gene_variant ORCA-IN 2 219315647 219315647 single base substitution G A 3_prime_UTR_variant ORCA-IN 2 219315647 219315647 single base substitution G A downstream_gene_variant ORCA-IN 2 219331629 219331629 single base substitution G A intron_variant ORCA-IN 2 219336695 219336695 single base substitution G C downstream_gene_variant ORCA-IN 2 219336695 219336695 single base substitution G C intron_variant ORCA-IN 2 219346219 219346219 single base substitution C G intron_variant ORCA-IN 2 219346219 219346219 single base substitution C G upstream_gene_variant ORCA-IN 2 219352725 219352725 single base substitution G C intron_variant ORCA-IN 2 219352725 219352725 single base substitution G C upstream_gene_variant ORCA-IN 2 219381414 219381414 single base substitution G C intron_variant ORCA-IN 2 219381414 219381414 single base substitution G C upstream_gene_variant ORCA-IN 2 219406702 219406702 single base substitution C T intron_variant ORCA-IN 2 219414576 219414576 single base substitution A G missense_variant S129P 385T>C ORCA-IN 2 219414576 219414576 single base substitution A G missense_variant S57P 169T>C ORCA-IN 2 219414576 219414576 single base substitution A G upstream_gene_variant ORCA-IN 2 219427720 219427720 single base substitution C G intron_variant OV-AU 2 219311065 219311065 single base substitution C T downstream_gene_variant OV-AU 2 219322103 219322103 single base substitution A G intron_variant OV-AU 2 219327753 219327753 single base substitution T A downstream_gene_variant OV-AU 2 219327753 219327753 single base substitution T A intron_variant OV-AU 2 219330220 219330220 single base substitution T A downstream_gene_variant OV-AU 2 219330220 219330220 single base substitution T A intron_variant OV-AU 2 219337671 219337671 single base substitution T A downstream_gene_variant OV-AU 2 219337671 219337671 single base substitution T A intron_variant OV-AU 2 219338712 219338712 single base substitution A C downstream_gene_variant OV-AU 2 219338712 219338712 single base substitution A C intron_variant OV-AU 2 219340853 219340853 single base substitution C G downstream_gene_variant OV-AU 2 219340853 219340853 single base substitution C G intron_variant OV-AU 2 219341634 219341634 single base substitution G A downstream_gene_variant OV-AU 2 219341634 219341634 single base substitution G A exon_variant OV-AU 2 219341634 219341634 single base substitution G A missense_variant R564C 1690C>T OV-AU 2 219341634 219341634 single base substitution G A missense_variant R658C 1972C>T OV-AU 2 219341862 219341862 single base substitution C A intron_variant OV-AU 2 219341862 219341862 single base substitution C A upstream_gene_variant OV-AU 2 219344643 219344643 single base substitution C T intron_variant OV-AU 2 219344643 219344643 single base substitution C T upstream_gene_variant OV-AU 2 219350765 219350765 single base substitution C T intron_variant OV-AU 2 219353282 219353282 single base substitution G T intron_variant OV-AU 2 219353282 219353282 single base substitution G T upstream_gene_variant OV-AU 2 219354751 219354751 single base substitution T C intron_variant OV-AU 2 219354751 219354751 single base substitution T C upstream_gene_variant OV-AU 2 219365944 219365944 single base substitution G T intron_variant OV-AU 2 219365944 219365944 single base substitution G T upstream_gene_variant OV-AU 2 219385187 219385187 single base substitution C G intron_variant OV-AU 2 219387350 219387350 single base substitution C T intron_variant OV-AU 2 219392067 219392067 single base substitution T C downstream_gene_variant OV-AU 2 219392067 219392067 single base substitution T C intron_variant OV-AU 2 219395668 219395668 single base substitution G T intron_variant OV-AU 2 219398750 219398750 single base substitution C G intron_variant OV-AU 2 219399533 219399533 single base substitution C G intron_variant OV-AU 2 219400987 219400987 single base substitution C G intron_variant OV-AU 2 219403049 219403049 single base substitution C A intron_variant OV-AU 2 219408030 219408030 single base substitution G T intron_variant OV-AU 2 219410956 219410956 deletion of <=200bp T - exon_variant OV-AU 2 219410956 219410956 deletion of <=200bp T - frameshift_variant N151 OV-AU 2 219410956 219410956 deletion of <=200bp T - frameshift_variant N223 OV-AU 2 219430333 219430333 single base substitution C T intron_variant OV-AU 2 219433614 219433614 single base substitution T A upstream_gene_variant PACA-AU 2 219324982 219324982 single base substitution A C intron_variant PACA-AU 2 219325956 219325956 single base substitution C T downstream_gene_variant PACA-AU 2 219325956 219325956 single base substitution C T intron_variant PACA-AU 2 219345801 219345801 single base substitution A C intron_variant PACA-AU 2 219345801 219345801 single base substitution A C upstream_gene_variant PACA-AU 2 219357011 219357011 single base substitution C G downstream_gene_variant PACA-AU 2 219357011 219357011 single base substitution C G intron_variant PACA-AU 2 219357523 219357523 single base substitution T C downstream_gene_variant PACA-AU 2 219357523 219357523 single base substitution T C intron_variant PACA-AU 2 219359452 219359452 single base substitution C T downstream_gene_variant PACA-AU 2 219359452 219359452 single base substitution C T intron_variant PACA-AU 2 219362670 219362670 single base substitution T G intron_variant PACA-AU 2 219363010 219363010 single base substitution C G exon_variant PACA-AU 2 219363010 219363010 single base substitution C G intron_variant PACA-AU 2 219363142 219363142 single base substitution C A intron_variant PACA-AU 2 219363142 219363142 single base substitution C A upstream_gene_variant PACA-AU 2 219367516 219367516 single base substitution T C intron_variant PACA-AU 2 219367516 219367516 single base substitution T C upstream_gene_variant PACA-AU 2 219369275 219369275 single base substitution G A intron_variant PACA-AU 2 219371972 219371972 single base substitution C T downstream_gene_variant PACA-AU 2 219371972 219371972 single base substitution C T intron_variant PACA-AU 2 219372999 219372999 single base substitution T C downstream_gene_variant PACA-AU 2 219372999 219372999 single base substitution T C intron_variant PACA-AU 2 219375494 219375494 single base substitution T C intron_variant PACA-AU 2 219377823 219377824 deletion of <=200bp AT - intron_variant PACA-AU 2 219392770 219392770 deletion of <=200bp A - downstream_gene_variant PACA-AU 2 219392770 219392770 deletion of <=200bp A - intron_variant PACA-AU 2 219403613 219403613 single base substitution C T intron_variant PACA-AU 2 219409027 219409027 single base substitution G A intron_variant PACA-AU 2 219411625 219411625 deletion of <=200bp A - intron_variant PACA-AU 2 219413416 219413416 single base substitution A G intron_variant PACA-AU 2 219414496 219414496 single base substitution T G intron_variant PACA-AU 2 219416514 219416514 single base substitution C T intron_variant PACA-AU 2 219416514 219416514 single base substitution C T upstream_gene_variant PACA-AU 2 219416774 219416774 single base substitution C T intron_variant PACA-AU 2 219416774 219416774 single base substitution C T upstream_gene_variant PACA-AU 2 219430604 219430604 single base substitution T C intron_variant PACA-AU 2 219433033 219433033 single base substitution A C 5_prime_UTR_variant PACA-AU 2 219433033 219433033 single base substitution A C upstream_gene_variant PACA-CA 2 219313953 219313953 single base substitution T G downstream_gene_variant PACA-CA 2 219316625 219316625 single base substitution G A 3_prime_UTR_variant PACA-CA 2 219316625 219316625 single base substitution G A downstream_gene_variant PACA-CA 2 219317193 219317193 single base substitution C T 3_prime_UTR_variant PACA-CA 2 219317193 219317193 single base substitution C T downstream_gene_variant PACA-CA 2 219320406 219320406 single base substitution G A stop_gained Q823* 2467C>T PACA-CA 2 219320406 219320406 single base substitution G A stop_gained Q917* 2749C>T PACA-CA 2 219325904 219325904 single base substitution T C downstream_gene_variant PACA-CA 2 219325904 219325904 single base substitution T C intron_variant PACA-CA 2 219326499 219326499 single base substitution C A downstream_gene_variant PACA-CA 2 219326499 219326499 single base substitution C A intron_variant PACA-CA 2 219329862 219329862 single base substitution G C downstream_gene_variant PACA-CA 2 219329862 219329862 single base substitution G C intron_variant PACA-CA 2 219331121 219331121 single base substitution T A intron_variant PACA-CA 2 219334183 219334183 single base substitution T A intron_variant PACA-CA 2 219338481 219338481 single base substitution T G downstream_gene_variant PACA-CA 2 219338481 219338481 single base substitution T G intron_variant PACA-CA 2 219340330 219340330 single base substitution C T downstream_gene_variant PACA-CA 2 219340330 219340330 single base substitution C T intron_variant PACA-CA 2 219349816 219349816 single base substitution C A intron_variant PACA-CA 2 219357838 219357838 single base substitution A T downstream_gene_variant PACA-CA 2 219357838 219357838 single base substitution A T intron_variant PACA-CA 2 219359287 219359287 single base substitution T C downstream_gene_variant PACA-CA 2 219359287 219359287 single base substitution T C intron_variant PACA-CA 2 219360632 219360632 single base substitution T C downstream_gene_variant PACA-CA 2 219360632 219360632 single base substitution T C exon_variant PACA-CA 2 219360632 219360632 single base substitution T C synonymous_variant K369K 1107A>G PACA-CA 2 219360632 219360632 single base substitution T C synonymous_variant K441K 1323A>G PACA-CA 2 219362151 219362151 single base substitution C G downstream_gene_variant PACA-CA 2 219362151 219362151 single base substitution C G intron_variant PACA-CA 2 219364979 219364979 single base substitution T C intron_variant PACA-CA 2 219364979 219364979 single base substitution T C upstream_gene_variant PACA-CA 2 219365036 219365036 single base substitution G T intron_variant PACA-CA 2 219365036 219365036 single base substitution G T upstream_gene_variant PACA-CA 2 219365139 219365139 single base substitution G A intron_variant PACA-CA 2 219365139 219365139 single base substitution G A upstream_gene_variant PACA-CA 2 219365251 219365251 single base substitution T C intron_variant PACA-CA 2 219365251 219365251 single base substitution T C upstream_gene_variant PACA-CA 2 219365754 219365754 single base substitution C A intron_variant PACA-CA 2 219365754 219365754 single base substitution C A upstream_gene_variant PACA-CA 2 219366704 219366704 single base substitution G C intron_variant PACA-CA 2 219366704 219366704 single base substitution G C upstream_gene_variant PACA-CA 2 219367286 219367288 deletion of <=200bp AAG - intron_variant PACA-CA 2 219367286 219367288 deletion of <=200bp AAG - upstream_gene_variant PACA-CA 2 219367868 219367868 single base substitution C A intron_variant PACA-CA 2 219367868 219367868 single base substitution C A upstream_gene_variant PACA-CA 2 219369905 219369905 insertion of <=200bp - T downstream_gene_variant PACA-CA 2 219369905 219369905 insertion of <=200bp - T intron_variant PACA-CA 2 219370624 219370624 single base substitution G A downstream_gene_variant PACA-CA 2 219370624 219370624 single base substitution G A intron_variant PACA-CA 2 219374840 219374840 single base substitution G T exon_variant PACA-CA 2 219374840 219374840 single base substitution G T missense_variant P224H 671C>A PACA-CA 2 219374840 219374840 single base substitution G T missense_variant P296H 887C>A PACA-CA 2 219376604 219376604 single base substitution G T intron_variant PACA-CA 2 219383037 219383037 single base substitution C A intron_variant PACA-CA 2 219383037 219383037 single base substitution C A upstream_gene_variant PACA-CA 2 219383672 219383672 single base substitution A T intron_variant PACA-CA 2 219383672 219383672 single base substitution A T upstream_gene_variant PACA-CA 2 219384699 219384699 single base substitution C T intron_variant PACA-CA 2 219385573 219385573 single base substitution G C intron_variant PACA-CA 2 219392260 219392260 single base substitution C A downstream_gene_variant PACA-CA 2 219392260 219392260 single base substitution C A intron_variant PACA-CA 2 219395055 219395055 deletion of <=200bp C - intron_variant PACA-CA 2 219395644 219395644 single base substitution G C intron_variant PACA-CA 2 219401665 219401665 single base substitution T C intron_variant PACA-CA 2 219412853 219412853 single base substitution G A intron_variant PACA-CA 2 219413117 219413124 deletion of <=200bp GCAGTGGC - intron_variant PACA-CA 2 219416194 219416194 single base substitution G T intron_variant PACA-CA 2 219416194 219416194 single base substitution G T upstream_gene_variant PACA-CA 2 219419542 219419542 single base substitution T A intron_variant PACA-CA 2 219419542 219419542 single base substitution T A upstream_gene_variant PACA-CA 2 219426070 219426070 single base substitution A G intron_variant PACA-CA 2 219429421 219429421 single base substitution T G intron_variant PAEN-AU 2 219354851 219354851 single base substitution G A intron_variant PAEN-AU 2 219354851 219354851 single base substitution G A upstream_gene_variant PAEN-AU 2 219355906 219355906 single base substitution C T downstream_gene_variant PAEN-AU 2 219355906 219355906 single base substitution C T intron_variant PAEN-AU 2 219355906 219355906 single base substitution C T upstream_gene_variant PAEN-AU 2 219429961 219429961 single base substitution C T intron_variant PAEN-IT 2 219352246 219352246 single base substitution T G intron_variant PAEN-IT 2 219352246 219352246 single base substitution T G upstream_gene_variant PBCA-DE 2 219312047 219312047 insertion of <=200bp - T downstream_gene_variant PBCA-DE 2 219317993 219317993 insertion of <=200bp - T 3_prime_UTR_variant PBCA-DE 2 219317993 219317993 insertion of <=200bp - T downstream_gene_variant PBCA-DE 2 219319337 219319338 deletion of <=200bp GT - 3_prime_UTR_variant PBCA-DE 2 219319337 219319338 deletion of <=200bp GT - downstream_gene_variant PBCA-DE 2 219328128 219328128 single base substitution G A downstream_gene_variant PBCA-DE 2 219328128 219328128 single base substitution G A intron_variant PBCA-DE 2 219341805 219341805 single base substitution T G intron_variant PBCA-DE 2 219341805 219341805 single base substitution T G upstream_gene_variant PBCA-DE 2 219343963 219343963 single base substitution A T intron_variant PBCA-DE 2 219343963 219343963 single base substitution A T upstream_gene_variant PBCA-DE 2 219345814 219345814 insertion of <=200bp - C intron_variant PBCA-DE 2 219345814 219345814 insertion of <=200bp - C upstream_gene_variant PBCA-DE 2 219359690 219359690 insertion of <=200bp - T downstream_gene_variant PBCA-DE 2 219359690 219359690 insertion of <=200bp - T intron_variant PBCA-DE 2 219377823 219377824 deletion of <=200bp AT - intron_variant PBCA-DE 2 219382093 219382093 single base substitution C T intron_variant PBCA-DE 2 219382093 219382093 single base substitution C T upstream_gene_variant PBCA-DE 2 219407500 219407500 single base substitution T C intron_variant PBCA-DE 2 219413092 219413092 single base substitution C A intron_variant PBCA-DE 2 219426250 219426250 single base substitution G A intron_variant PRAD-CA 2 219348331 219348331 single base substitution G A intron_variant PRAD-CA 2 219348331 219348331 single base substitution G A upstream_gene_variant PRAD-CA 2 219364658 219364658 single base substitution T C intron_variant PRAD-CA 2 219364658 219364658 single base substitution T C upstream_gene_variant PRAD-CA 2 219371891 219371891 single base substitution A G downstream_gene_variant PRAD-CA 2 219371891 219371891 single base substitution A G intron_variant PRAD-CA 2 219393866 219393866 single base substitution C T intron_variant PRAD-CA 2 219415358 219415358 single base substitution G A intron_variant PRAD-CA 2 219415358 219415358 single base substitution G A upstream_gene_variant PRAD-CA 2 219421089 219421089 single base substitution C G intron_variant PRAD-UK 2 219321922 219321922 single base substitution T C intron_variant PRAD-UK 2 219356536 219356536 single base substitution C T downstream_gene_variant PRAD-UK 2 219356536 219356536 single base substitution C T intron_variant PRAD-UK 2 219376935 219376935 deletion of <=200bp A - intron_variant PRAD-UK 2 219384408 219384408 single base substitution A C intron_variant PRAD-UK 2 219396821 219396821 single base substitution A G intron_variant PRAD-UK 2 219403805 219403805 single base substitution C T intron_variant PRAD-UK 2 219411140 219411140 single base substitution T A intron_variant PRAD-UK 2 219433383 219433384 deletion of <=200bp GA - upstream_gene_variant PRAD-US 2 219341590 219341590 single base substitution G T downstream_gene_variant PRAD-US 2 219341590 219341590 single base substitution G T exon_variant PRAD-US 2 219341590 219341590 single base substitution G T missense_variant N578K 1734C>A PRAD-US 2 219341590 219341590 single base substitution G T missense_variant N672K 2016C>A PRAD-US 2 219353074 219353074 single base substitution G T missense_variant P443T 1327C>A PRAD-US 2 219353074 219353074 single base substitution G T missense_variant P515T 1543C>A PRAD-US 2 219353074 219353074 single base substitution G T upstream_gene_variant PRAD-US 2 219353102 219353102 single base substitution G T synonymous_variant L433L 1299C>A PRAD-US 2 219353102 219353102 single base substitution G T synonymous_variant L505L 1515C>A PRAD-US 2 219353102 219353102 single base substitution G T upstream_gene_variant READ-US 2 219411744 219411744 single base substitution C T exon_variant READ-US 2 219411744 219411744 single base substitution C T missense_variant G167D 500G>A READ-US 2 219411744 219411744 single base substitution C T missense_variant G95D 284G>A RECA-EU 2 219312914 219312914 single base substitution T C downstream_gene_variant RECA-EU 2 219330853 219330853 single base substitution T A downstream_gene_variant RECA-EU 2 219330853 219330853 single base substitution T A missense_variant K688N 2064A>T RECA-EU 2 219330853 219330853 single base substitution T A missense_variant K782N 2346A>T RECA-EU 2 219331364 219331364 single base substitution T A intron_variant RECA-EU 2 219341153 219341153 single base substitution C G downstream_gene_variant RECA-EU 2 219341153 219341153 single base substitution C G intron_variant RECA-EU 2 219346179 219346179 single base substitution T G intron_variant RECA-EU 2 219346179 219346179 single base substitution T G upstream_gene_variant RECA-EU 2 219358068 219358068 single base substitution C A downstream_gene_variant RECA-EU 2 219358068 219358068 single base substitution C A intron_variant RECA-EU 2 219375724 219375724 single base substitution A C intron_variant RECA-EU 2 219383322 219383322 single base substitution C G intron_variant RECA-EU 2 219383322 219383322 single base substitution C G upstream_gene_variant RECA-EU 2 219385576 219385576 single base substitution G C intron_variant RECA-EU 2 219388619 219388619 single base substitution T A downstream_gene_variant RECA-EU 2 219388619 219388619 single base substitution T A intron_variant RECA-EU 2 219414802 219414802 single base substitution C G intron_variant RECA-EU 2 219414802 219414802 single base substitution C G upstream_gene_variant RECA-EU 2 219418704 219418704 single base substitution A C intron_variant RECA-EU 2 219418704 219418704 single base substitution A C upstream_gene_variant RECA-EU 2 219425443 219425443 single base substitution A C intron_variant RECA-EU 2 219426810 219426810 single base substitution T A intron_variant RECA-EU 2 219426811 219426811 single base substitution A T intron_variant RECA-EU 2 219429667 219429667 single base substitution C T intron_variant SKCA-BR 2 219311236 219311236 single base substitution G A downstream_gene_variant SKCA-BR 2 219311979 219311979 single base substitution G A downstream_gene_variant SKCA-BR 2 219317248 219317248 single base substitution T C 3_prime_UTR_variant SKCA-BR 2 219317248 219317248 single base substitution T C downstream_gene_variant SKCA-BR 2 219324814 219324814 insertion of <=200bp - CAA intron_variant SKCA-BR 2 219326886 219326886 single base substitution A G downstream_gene_variant SKCA-BR 2 219326886 219326886 single base substitution A G intron_variant SKCA-BR 2 219328797 219328797 single base substitution G A downstream_gene_variant SKCA-BR 2 219328797 219328797 single base substitution G A intron_variant SKCA-BR 2 219332038 219332038 insertion of <=200bp - ATATC intron_variant SKCA-BR 2 219333346 219333346 single base substitution T C intron_variant SKCA-BR 2 219334246 219334246 single base substitution A G intron_variant SKCA-BR 2 219336759 219336760 deletion of <=200bp GA - downstream_gene_variant SKCA-BR 2 219336759 219336760 deletion of <=200bp GA - intron_variant SKCA-BR 2 219337969 219337969 single base substitution A G downstream_gene_variant SKCA-BR 2 219337969 219337969 single base substitution A G intron_variant SKCA-BR 2 219337969 219337969 single base substitution A G splice_region_variant SKCA-BR 2 219339646 219339646 single base substitution C T downstream_gene_variant SKCA-BR 2 219339646 219339646 single base substitution C T intron_variant SKCA-BR 2 219339646 219339646 single base substitution C T splice_region_variant SKCA-BR 2 219341285 219341285 single base substitution G A downstream_gene_variant SKCA-BR 2 219341285 219341285 single base substitution G A intron_variant SKCA-BR 2 219348350 219348350 single base substitution C A intron_variant SKCA-BR 2 219348350 219348350 single base substitution C A upstream_gene_variant SKCA-BR 2 219350358 219350361 deletion of <=200bp CAAA - intron_variant SKCA-BR 2 219351263 219351263 single base substitution A C intron_variant SKCA-BR 2 219351263 219351263 single base substitution A C upstream_gene_variant SKCA-BR 2 219351405 219351405 insertion of <=200bp - CAAAGT intron_variant SKCA-BR 2 219351405 219351405 insertion of <=200bp - CAAAGT upstream_gene_variant SKCA-BR 2 219359764 219359764 single base substitution G A downstream_gene_variant SKCA-BR 2 219359764 219359764 single base substitution G A intron_variant SKCA-BR 2 219364016 219364016 insertion of <=200bp - CA intron_variant SKCA-BR 2 219364016 219364016 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 2 219365093 219365093 single base substitution C T intron_variant SKCA-BR 2 219365093 219365093 single base substitution C T upstream_gene_variant SKCA-BR 2 219367423 219367423 single base substitution G A intron_variant SKCA-BR 2 219367423 219367423 single base substitution G A upstream_gene_variant SKCA-BR 2 219368882 219368882 single base substitution G A intron_variant SKCA-BR 2 219371764 219371764 single base substitution A G downstream_gene_variant SKCA-BR 2 219371764 219371764 single base substitution A G intron_variant SKCA-BR 2 219372768 219372768 single base substitution C A downstream_gene_variant SKCA-BR 2 219372768 219372768 single base substitution C A intron_variant SKCA-BR 2 219372999 219372999 single base substitution T C downstream_gene_variant SKCA-BR 2 219372999 219372999 single base substitution T C intron_variant SKCA-BR 2 219374975 219374975 single base substitution G A intron_variant SKCA-BR 2 219375250 219375250 single base substitution A G intron_variant SKCA-BR 2 219379348 219379348 single base substitution T A intron_variant SKCA-BR 2 219379348 219379348 single base substitution T A upstream_gene_variant SKCA-BR 2 219387639 219387639 single base substitution A G intron_variant SKCA-BR 2 219388301 219388301 single base substitution T G downstream_gene_variant SKCA-BR 2 219388301 219388301 single base substitution T G intron_variant SKCA-BR 2 219392159 219392159 single base substitution A G downstream_gene_variant SKCA-BR 2 219392159 219392159 single base substitution A G intron_variant SKCA-BR 2 219395568 219395568 single base substitution A C intron_variant SKCA-BR 2 219397189 219397190 deletion of <=200bp CA - intron_variant SKCA-BR 2 219397276 219397276 single base substitution C T intron_variant SKCA-BR 2 219400740 219400747 deletion of <=200bp CAAAAAAA - intron_variant SKCA-BR 2 219402060 219402060 single base substitution A C intron_variant SKCA-BR 2 219402447 219402447 single base substitution A G intron_variant SKCA-BR 2 219403141 219403141 single base substitution G A intron_variant SKCA-BR 2 219405110 219405110 single base substitution C G intron_variant SKCA-BR 2 219409147 219409147 insertion of <=200bp - TAGAG intron_variant SKCA-BR 2 219412306 219412307 deletion of <=200bp CA - intron_variant SKCA-BR 2 219415165 219415165 insertion of <=200bp - AC intron_variant SKCA-BR 2 219415165 219415165 insertion of <=200bp - AC upstream_gene_variant SKCA-BR 2 219415166 219415166 single base substitution A C intron_variant SKCA-BR 2 219415166 219415166 single base substitution A C upstream_gene_variant SKCA-BR 2 219416053 219416053 single base substitution A T intron_variant SKCA-BR 2 219416053 219416053 single base substitution A T upstream_gene_variant SKCA-BR 2 219416769 219416769 single base substitution C T intron_variant SKCA-BR 2 219416769 219416769 single base substitution C T upstream_gene_variant SKCA-BR 2 219417947 219417947 insertion of <=200bp - CA intron_variant SKCA-BR 2 219417947 219417947 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 2 219422390 219422390 single base substitution G A intron_variant SKCA-BR 2 219422391 219422391 single base substitution G C intron_variant SKCA-BR 2 219423605 219423605 single base substitution G A intron_variant SKCA-BR 2 219433264 219433264 single base substitution C T upstream_gene_variant SKCA-BR 2 219433389 219433389 single base substitution A C upstream_gene_variant SKCA-BR 2 219433522 219433522 single base substitution T G upstream_gene_variant SKCA-BR 2 219433529 219433529 single base substitution T G upstream_gene_variant SKCA-BR 2 219433648 219433648 single base substitution C T upstream_gene_variant SKCA-BR 2 219436071 219436071 single base substitution C A upstream_gene_variant SKCA-BR 2 219436452 219436452 single base substitution G A upstream_gene_variant SKCA-BR 2 219438041 219438042 deletion of <=200bp TA - upstream_gene_variant SKCM-US 2 219313997 219313997 single base substitution G A downstream_gene_variant SKCM-US 2 219321865 219321865 single base substitution G A missense_variant S794L 2381C>T SKCM-US 2 219321865 219321865 single base substitution G A missense_variant S888L 2663C>T SKCM-US 2 219341665 219341665 single base substitution G A downstream_gene_variant SKCM-US 2 219341665 219341665 single base substitution G A exon_variant SKCM-US 2 219341665 219341665 single base substitution G A synonymous_variant C553C 1659C>T SKCM-US 2 219341665 219341665 single base substitution G A synonymous_variant C647C 1941C>T SKCM-US 2 219346947 219346947 single base substitution G A exon_variant SKCM-US 2 219346947 219346947 single base substitution G A missense_variant L489F 1465C>T SKCM-US 2 219346947 219346947 single base substitution G A missense_variant L561F 1681C>T SKCM-US 2 219346947 219346947 single base substitution G A upstream_gene_variant SKCM-US 2 219353064 219353064 single base substitution G A missense_variant P446L 1337C>T SKCM-US 2 219353064 219353064 single base substitution G A missense_variant P518L 1553C>T SKCM-US 2 219353064 219353064 single base substitution G A upstream_gene_variant SKCM-US 2 219360507 219360507 single base substitution A G downstream_gene_variant SKCM-US 2 219360507 219360507 single base substitution A G exon_variant SKCM-US 2 219360507 219360507 single base substitution A G missense_variant V411A 1232T>C SKCM-US 2 219360507 219360507 single base substitution A G missense_variant V483A 1448T>C SKCM-US 2 219360645 219360645 single base substitution A G downstream_gene_variant SKCM-US 2 219360645 219360645 single base substitution A G exon_variant SKCM-US 2 219360645 219360645 single base substitution A G missense_variant L365S 1094T>C SKCM-US 2 219360645 219360645 single base substitution A G missense_variant L437S 1310T>C SKCM-US 2 219360674 219360674 single base substitution C T downstream_gene_variant SKCM-US 2 219360674 219360674 single base substitution C T splice_acceptor_variant SKCM-US 2 219362824 219362824 single base substitution G A exon_variant SKCM-US 2 219362824 219362824 single base substitution G A missense_variant S289L 866C>T SKCM-US 2 219362824 219362824 single base substitution G A missense_variant S361L 1082C>T SKCM-US 2 219394755 219394755 single base substitution G A exon_variant SKCM-US 2 219394755 219394755 single base substitution G A missense_variant P191S 571C>T SKCM-US 2 219394755 219394755 single base substitution G A missense_variant P263S 787C>T SKCM-US 2 219411703 219411703 single base substitution G A exon_variant SKCM-US 2 219411703 219411703 single base substitution G A missense_variant R109W 325C>T SKCM-US 2 219411703 219411703 single base substitution G A missense_variant R181W 541C>T SKCM-US 2 219411757 219411757 single base substitution G A exon_variant SKCM-US 2 219411757 219411757 single base substitution G A missense_variant L163F 487C>T SKCM-US 2 219411757 219411757 single base substitution G A missense_variant L91F 271C>T SKCM-US 2 219423367 219423367 single base substitution G A intron_variant SKCM-US 2 219423367 219423367 single base substitution G A synonymous_variant L4L 10C>T STAD-US 2 219319687 219319687 single base substitution G A missense_variant T875M 2624C>T STAD-US 2 219319687 219319687 single base substitution G A missense_variant T969M 2906C>T STAD-US 2 219319721 219319721 single base substitution G A synonymous_variant L864L 2590C>T STAD-US 2 219319721 219319721 single base substitution G A synonymous_variant L958L 2872C>T STAD-US 2 219321865 219321865 single base substitution G A missense_variant S794L 2381C>T STAD-US 2 219321865 219321865 single base substitution G A missense_variant S888L 2663C>T STAD-US 2 219328045 219328045 single base substitution G A downstream_gene_variant STAD-US 2 219328045 219328045 single base substitution G A synonymous_variant T743T 2229C>T STAD-US 2 219328045 219328045 single base substitution G A synonymous_variant T837T 2511C>T STAD-US 2 219339499 219339499 single base substitution C G downstream_gene_variant STAD-US 2 219339499 219339499 single base substitution C G exon_variant STAD-US 2 219339499 219339499 single base substitution C G missense_variant R624T 1871G>C STAD-US 2 219339499 219339499 single base substitution C G missense_variant R718T 2153G>C STAD-US 2 219339558 219339558 single base substitution T C downstream_gene_variant STAD-US 2 219339558 219339558 single base substitution T C exon_variant STAD-US 2 219339558 219339558 single base substitution T C synonymous_variant S604S 1812A>G STAD-US 2 219339558 219339558 single base substitution T C synonymous_variant S698S 2094A>G STAD-US 2 219341566 219341566 single base substitution T G downstream_gene_variant STAD-US 2 219341566 219341566 single base substitution T G exon_variant STAD-US 2 219341566 219341566 single base substitution T G missense_variant E586D 1758A>C STAD-US 2 219341566 219341566 single base substitution T G missense_variant E680D 2040A>C STAD-US 2 219341575 219341575 single base substitution T C downstream_gene_variant STAD-US 2 219341575 219341575 single base substitution T C exon_variant STAD-US 2 219341575 219341575 single base substitution T C synonymous_variant E583E 1749A>G STAD-US 2 219341575 219341575 single base substitution T C synonymous_variant E677E 2031A>G STAD-US 2 219346910 219346911 deletion of <=200bp GA - exon_variant STAD-US 2 219346910 219346911 deletion of <=200bp GA - frameshift_variant S501 STAD-US 2 219346910 219346911 deletion of <=200bp GA - frameshift_variant S573 STAD-US 2 219346910 219346911 deletion of <=200bp GA - upstream_gene_variant STAD-US 2 219350422 219350422 single base substitution A T exon_variant STAD-US 2 219350422 219350422 single base substitution A T stop_gained C473* 1419T>A STAD-US 2 219350422 219350422 single base substitution A T stop_gained C545* 1635T>A STAD-US 2 219362579 219362579 single base substitution G A missense_variant R315C 943C>T STAD-US 2 219362579 219362579 single base substitution G A missense_variant R387C 1159C>T STAD-US 2 219362579 219362579 single base substitution G A splice_region_variant STAD-US 2 219410943 219410943 single base substitution C T splice_donor_variant STAD-US 2 219411702 219411702 single base substitution C T exon_variant STAD-US 2 219411702 219411702 single base substitution C T missense_variant R109Q 326G>A STAD-US 2 219411702 219411702 single base substitution C T missense_variant R181Q 542G>A STAD-US 2 219411727 219411727 single base substitution T C exon_variant STAD-US 2 219411727 219411727 single base substitution T C missense_variant T101A 301A>G STAD-US 2 219411727 219411727 single base substitution T C missense_variant T173A 517A>G STAD-US 2 219423238 219423238 single base substitution T C intron_variant STAD-US 2 219423238 219423238 single base substitution T C missense_variant I47V 139A>G THCA-US 2 219346911 219346911 single base substitution A T exon_variant THCA-US 2 219346911 219346911 single base substitution A T missense_variant S501T 1501T>A THCA-US 2 219346911 219346911 single base substitution A T missense_variant S573T 1717T>A THCA-US 2 219346911 219346911 single base substitution A T upstream_gene_variant UCEC-US 2 219313964 219313964 single base substitution G T downstream_gene_variant UCEC-US 2 219321841 219321841 single base substitution C T missense_variant S802N 2405G>A UCEC-US 2 219321841 219321841 single base substitution C T missense_variant S896N 2687G>A UCEC-US 2 219339438 219339438 single base substitution G A downstream_gene_variant UCEC-US 2 219339438 219339438 single base substitution G A exon_variant UCEC-US 2 219339438 219339438 single base substitution G A synonymous_variant T644T 1932C>T UCEC-US 2 219339438 219339438 single base substitution G A synonymous_variant T738T 2214C>T UCEC-US 2 219341664 219341664 single base substitution G T downstream_gene_variant UCEC-US 2 219341664 219341664 single base substitution G T exon_variant UCEC-US 2 219341664 219341664 single base substitution G T missense_variant L554I 1660C>A UCEC-US 2 219341664 219341664 single base substitution G T missense_variant L648I 1942C>A UCEC-US 2 219344432 219344432 single base substitution T C exon_variant UCEC-US 2 219344432 219344432 single base substitution T C intron_variant UCEC-US 2 219344432 219344432 single base substitution T C synonymous_variant R614R 1842A>G UCEC-US 2 219344432 219344432 single base substitution T C upstream_gene_variant UCEC-US 2 219346797 219346797 single base substitution C T exon_variant UCEC-US 2 219346797 219346797 single base substitution C T missense_variant A539T 1615G>A UCEC-US 2 219346797 219346797 single base substitution C T missense_variant A611T 1831G>A UCEC-US 2 219346797 219346797 single base substitution C T upstream_gene_variant UCEC-US 2 219350460 219350460 single base substitution C A exon_variant UCEC-US 2 219350460 219350460 single base substitution C A stop_gained E461* 1381G>T UCEC-US 2 219350460 219350460 single base substitution C A stop_gained E533* 1597G>T UCEC-US 2 219353050 219353050 single base substitution C A missense_variant D451Y 1351G>T UCEC-US 2 219353050 219353050 single base substitution C A missense_variant D523Y 1567G>T UCEC-US 2 219353050 219353050 single base substitution C A upstream_gene_variant UCEC-US 2 219362475 219362475 single base substitution G T downstream_gene_variant UCEC-US 2 219362475 219362475 single base substitution G T exon_variant UCEC-US 2 219362475 219362475 single base substitution G T missense_variant F349L 1047C>A UCEC-US 2 219362475 219362475 single base substitution G T missense_variant F421L 1263C>A UCEC-US 2 219362522 219362522 single base substitution A C exon_variant UCEC-US 2 219362522 219362522 single base substitution A C missense_variant L334V 1000T>G UCEC-US 2 219362522 219362522 single base substitution A C missense_variant L406V 1216T>G UCEC-US 2 219374823 219374823 single base substitution A C exon_variant UCEC-US 2 219374823 219374823 single base substitution A C missense_variant L230V 688T>G UCEC-US 2 219374823 219374823 single base substitution A C missense_variant L302V 904T>G UCEC-US 2 219394710 219394710 single base substitution C T exon_variant UCEC-US 2 219394710 219394710 single base substitution C T missense_variant E206K 616G>A UCEC-US 2 219394710 219394710 single base substitution C T missense_variant E278K 832G>A UCEC-US 2 219399404 219399404 single base substitution A G intron_variant UCEC-US 2 219399404 219399404 single base substitution A G missense_variant S164P 490T>C UCEC-US 2 219399404 219399404 single base substitution A G missense_variant S236P 706T>C UCEC-US 2 219399411 219399411 single base substitution T G intron_variant UCEC-US 2 219399411 219399411 single base substitution T G synonymous_variant T161T 483A>C UCEC-US 2 219399411 219399411 single base substitution T G synonymous_variant T233T 699A>C UCEC-US 2 219410944 219410944 single base substitution G A missense_variant S155L 464C>T UCEC-US 2 219410944 219410944 single base substitution G A missense_variant S227L 680C>T UCEC-US 2 219410944 219410944 single base substitution G A splice_region_variant UCEC-US 2 219418392 219418392 single base substitution C A 5_prime_UTR_variant UCEC-US 2 219418392 219418392 single base substitution C A missense_variant R71L 212G>T UCEC-US 2 219418392 219418392 single base substitution C A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand T2987 COSM4739820 c.200_201delCG p.A67fs*12 Deletion - Frameshift 2:218553680-218553681 - LS411 COSM3043580 c.81T>C p.F27F Substitution - coding silent 2:218558573-218558573 - PCSI_0465_Pa_P_526 COSM4964555 c.887C>A p.P296H Substitution - Missense 2:218510117-218510117 - PTC-14C COSM4133451 c.290T>A p.L97* Substitution - Nonsense 2:218553591-218553591 - TCGA-BR-A452-01 COSM4091443 c.2153G>C p.R718T Substitution - Missense 2:218474776-218474776 - TCGA-EB-A3Y7-01 COSM3577721 c.1448T>C p.V483A Substitution - Missense 2:218495784-218495784 - HCC16 COSM1614363 c.565A>G p.T189A Substitution - Missense 2:218546956-218546956 - HCC159 COSM3709413 c.1507A>G p.N503D Substitution - Missense 2:218488387-218488387 - LUAD-S01302 COSM395959 c.2729A>T p.D910V Substitution - Missense 2:218455703-218455703 - Case4 COSM1579366 c.845G>C p.G282A Substitution - Missense 2:218529974-218529974 - PR-09-3687 COSM248249 c.553T>A p.S185T Substitution - Missense 2:218546968-218546968 - H384 COSM5043612 c.187C>T p.R63* Substitution - Nonsense 2:218553694-218553694 - T3024 COSM4739815 c.2773C>A p.L925M Substitution - Missense 2:218455659-218455659 - GC1_T COSM149066 c.2063T>C p.I688T Substitution - Missense 2:218474866-218474866 - GHE0609 COSM4091448 c.1159C>T p.R387C Substitution - Missense 2:218497856-218497856 - TCGA-EE-A2GO-06 COSM3577723 c.1282-1G>A p.? Unknown 2:218495951-218495951 - MO_1241 COSM5554797 c.527G>T p.G176V Substitution - Missense 2:218546994-218546994 - TCGA-ER-A2NE-06 COSM3909596 c.787C>T p.P263S Substitution - Missense 2:218530032-218530032 - CP66-MEL COSM24319 c.190C>T p.P64S Substitution - Missense 2:218553691-218553691 - CSCC-55-T COSM4468619 c.1552C>T p.P518S Substitution - Missense 2:218488342-218488342 - TCGA-A2-A04P-01 COSM442315 c.607G>C p.E203Q Substitution - Missense 2:218546294-218546294 - TCGA-18-3407-01 COSM719993 c.2522T>G p.L841R Substitution - Missense 2:218463311-218463311 - ESCC-243T COSM3938918 c.1259G>C p.R420T Substitution - Missense 2:218497756-218497756 - TCGA-BG-A0M6-01 COSM1016376 c.699A>C p.T233T Substitution - coding silent 2:218534688-218534688 - S02344 COSM5693580 c.1932G>T p.L644F Substitution - Missense 2:218476951-218476951 - TCGA-C5-A1BM-01 COSM4826462 c.2644-1G>A p.? Unknown 2:218457162-218457162 - Pat_41_B COSM5861768 c.2485G>A p.E829K Substitution - Missense 2:218463348-218463348 - TCGA-60-2722-01 COSM719991 c.1642G>T p.V548F Substitution - Missense 2:218485692-218485692 - TCGA-D1-A17H-01 COSM1016358 c.1842A>G p.R614R Substitution - coding silent 2:218479709-218479709 - T3267 COSM4739817 c.1757G>T p.R586I Substitution - Missense 2:218482148-218482148 - TCGA-FP-A4BF-01 COSM4091441 c.2906C>T p.T969M Substitution - Missense 2:218454964-218454964 - TCGA-85-6561-01 COSM719989 c.811G>T p.G271C Substitution - Missense 2:218530008-218530008 - DN11135 COSM5782345 c.1806T>G p.F602L Substitution - Missense 2:218482099-218482099 - BN49T COSM1614361 c.2387G>T p.W796L Substitution - Missense 2:218466089-218466089 - TCGA-GF-A6C9-06 COSM4901133 c.1082C>T p.S361L Substitution - Missense 2:218498101-218498101 - TCGA-D1-A16N-01 COSM1016380 c.625A>T p.I209L Substitution - Missense 2:218546276-218546276 - TCGA-BP-4340-01 COSM3364572 c.2449C>A p.Q817K Substitution - Missense 2:218466027-218466027 - ME020T COSM225502 c.2246C>T p.P749L Substitution - Missense 2:218474683-218474683 - CSCC-31-T COSM4499825 c.550C>T p.P184S Substitution - Missense 2:218546971-218546971 - ME100L COSM230956 c.1549C>T p.P517S Substitution - Missense 2:218488345-218488345 - Sample_1 COSM5021360 c.1988G>C p.S663T Substitution - Missense 2:218476895-218476895 - TCGA-FC-7708-01 COSM1471268 c.1543C>A p.P515T Substitution - Missense 2:218488351-218488351 - TCGA-D3-A2JF-06 COSM3577720 c.1553C>T p.P518L Substitution - Missense 2:218488341-218488341 - CSCC-27-T COSM4456241 c.1001C>T p.S334F Substitution - Missense 2:218510003-218510003 - DLD1 COSM4624577 c.770G>T p.R257M Substitution - Missense 2:218534617-218534617 - BN49T COSM1614360 c.2388G>T p.W796C Substitution - Missense 2:218466088-218466088 - ME049T COSM229982 c.485T>G p.V162G Substitution - Missense 2:218547036-218547036 - TCGA-F1-A448-01 COSM4091442 c.2872C>T p.L958L Substitution - coding silent 2:218454998-218454998 - UACC-62 COSM1669753 c.2595T>A p.D865E Substitution - Missense 2:218459838-218459838 - SA229 COSM212683 c.871G>A p.V291I Substitution - Missense 2:218510133-218510133 - 1_PRE-TREATMENT COSM1720950 c.23G>T p.G8V Substitution - Missense 2:218558631-218558631 - LUAD-S01345 COSM397187 c.1617G>C p.E539D Substitution - Missense 2:218485717-218485717 - T2272 COSM4739813 c.2803G>A p.V935M Substitution - Missense 2:218455629-218455629 - TCGA-D1-A160-01 COSM1016352 c.2687G>A p.S896N Substitution - Missense 2:218457118-218457118 - TCGA-AP-A056-01 COSM1016374 c.706T>C p.S236P Substitution - Missense 2:218534681-218534681 - TCGA-BS-A0UF-01 COSM1016378 c.680C>T p.S227L Substitution - Missense 2:218546221-218546221 - TCGA-AA-3663-01 COSM1405465 c.991C>T p.P331S Substitution - Missense 2:218510013-218510013 - TCGA-BR-7851-01 COSM4091451 c.139A>G p.I47V Substitution - Missense 2:218558515-218558515 - LUAD-S01373 COSM388155 c.703C>T p.P235S Substitution - Missense 2:218534684-218534684 - YURAY COSM5396208 c.803C>T p.S268F Substitution - Missense 2:218530016-218530016 - T2974 COSM4739818 c.546G>A p.T182T Substitution - coding silent 2:218546975-218546975 - TCGA-D1-A165-01 COSM1016360 c.1831G>A p.A611T Substitution - Missense 2:218482074-218482074 - TCGA-DS-A0VM-01 COSM461160 c.899G>T p.R300I Substitution - Missense 2:218510105-218510105 - T578 COSM3043565 c.793C>T p.Q265* Substitution - Nonsense 2:218530026-218530026 - TCGA-DA-A1HV-06 COSM3577724 c.541C>T p.R181W Substitution - Missense 2:218546980-218546980 - B103 COSM1752344 c.413C>G p.S138C Substitution - Missense 2:218549825-218549825 - PTC-14C COSM4133449 c.292T>C p.F98L Substitution - Missense 2:218553589-218553589 - TCGA-ER-A19B-06 COSM3577722 c.1310T>C p.L437S Substitution - Missense 2:218495922-218495922 - B47-Tumor COSM1752343 c.909A>G p.G303G Substitution - coding silent 2:218510095-218510095 - TCGA-29-1775-01 COSM1326419 c.2450A>C p.Q817P Substitution - Missense 2:218466026-218466026 - STC246 COSM5058658 c.1092A>G p.S364S Substitution - coding silent 2:218498091-218498091 - PD8995a COSM5782345 c.1806T>G p.F602L Substitution - Missense 2:218482099-218482099 - pfg016T COSM1641833 c.1289A>G p.H430R Substitution - Missense 2:218495943-218495943 - SM-4AX85 COSM4409249 c.2411G>A p.R804H Substitution - Missense 2:218466065-218466065 - PCSI_0093_Pa_X COSM3380039 c.2749C>T p.Q917* Substitution - Nonsense 2:218455683-218455683 - TCGA-13-1477-01 COSM116373 c.689A>T p.K230M Substitution - Missense 2:218534698-218534698 - PT49 COSM5934676 c.2467-7C>T p.? Unknown 2:218463373-218463373 - T3062 COSM4739816 c.2410C>T p.R804C Substitution - Missense 2:218466066-218466066 - TCGA-EJ-5504-01 COSM1129325 c.1515C>A p.L505L Substitution - coding silent 2:218488379-218488379 - TCGA-FW-A3R5-06 COSM3909597 c.487C>T p.L163F Substitution - Missense 2:218547034-218547034 - TCGA-AC-A23H-01 COSM3838593 c.554C>G p.S185C Substitution - Missense 2:218546967-218546967 - B103-Tumor COSM1752344 c.413C>G p.S138C Substitution - Missense 2:218549825-218549825 - RK243_C01 COSM4779894 c.1833A>C p.A611A Substitution - coding silent 2:218482072-218482072 - TCGA-EY-A1GS-01 COSM1016382 c.212G>T p.R71L Substitution - Missense 2:218553669-218553669 - OSCC-GB_01390111 COSM5954417 c.385T>C p.S129P Substitution - Missense 2:218549853-218549853 - C086 COSM5541488 c.2659C>T p.H887Y Substitution - Missense 2:218457146-218457146 - TCGA-CJ-4634-01 COSM1720950 c.23G>T p.G8V Substitution - Missense 2:218558631-218558631 - B47 COSM1752343 c.909A>G p.G303G Substitution - coding silent 2:218510095-218510095 - HCC16T COSM1614363 c.565A>G p.T189A Substitution - Missense 2:218546956-218546956 - TCGA-AP-A059-01 COSM1016354 c.2214C>T p.T738T Substitution - coding silent 2:218474715-218474715 - TCGA-IR-A3LH-01 COSM4832578 c.2300-1G>T p.? Unknown 2:218466177-218466177 - GC_342T_a-GC_342N COSM3577718 c.1941C>T p.C647C Substitution - coding silent 2:218476942-218476942 - B78 COSM1752342 c.2080G>A p.E694K Substitution - Missense 2:218474849-218474849 - TCGA-B5-A0JY-01 COSM1016366 c.1263C>A p.F421L Substitution - Missense 2:218497752-218497752 - TCGA-DU-7294-01 COSM3972020 c.2681T>G p.V894G Substitution - Missense 2:218457124-218457124 - TCGA-AH-6897-01 COSM3426086 c.500G>A p.G167D Substitution - Missense 2:218547021-218547021 - TCGA-CD-A4MI-01 COSM4091444 c.2094A>G p.S698S Substitution - coding silent 2:218474835-218474835 - 110350 COSM95687 c.2449C>T p.Q817* Substitution - Nonsense 2:218466027-218466027 - TCGA-AO-A03T-01 COSM442314 c.652G>C p.D218H Substitution - Missense 2:218546249-218546249 - TCGA-BR-8372-01 COSM4091450 c.517A>G p.T173A Substitution - Missense 2:218547004-218547004 - CACO2 COSM3043567 c.768T>C p.N256N Substitution - coding silent 2:218534619-218534619 - TCGA-BR-8680-01 COSM3577717 c.2663C>T p.S888L Substitution - Missense 2:218457142-218457142 - TCGA-ER-A193-06 COSM3577718 c.1941C>T p.C647C Substitution - coding silent 2:218476942-218476942 - TCGA-DK-A1AE-01 COSM1306422 c.1320G>T p.L440L Substitution - coding silent 2:218495912-218495912 - ESCC_131 COSM5642240 c.2168C>G p.S723C Substitution - Missense 2:218474761-218474761 - 5T COSM107361 c.704C>T p.P235L Substitution - Missense 2:218534683-218534683 - TCGA-AP-A056-01 COSM1016370 c.904T>G p.L302V Substitution - Missense 2:218510100-218510100 - TCGA-BR-6452-01 COSM4091447 c.1635T>A p.C545* Substitution - Nonsense 2:218485699-218485699 - TCGA-BR-8680-01 COSM4091445 c.2040A>C p.E680D Substitution - Missense 2:218476843-218476843 - TCGA-AP-A059-01 COSM1016356 c.1942C>A p.L648I Substitution - Missense 2:218476941-218476941 - LS411 COSM3043549 c.1737G>A p.G579G Substitution - coding silent 2:218482168-218482168 - C0075T COSM4154798 c.2346A>T p.K782N Substitution - Missense 2:218466130-218466130 - TCGA-GV-A3QI-01 COSM1306421 c.2575G>C p.G859R Substitution - Missense 2:218459858-218459858 - 9583_PT COSM5755987 c.864G>C p.R288S Substitution - Missense 2:218510140-218510140 - CSCC-31-T COSM4501987 c.601C>T p.R201C Substitution - Missense 2:218546920-218546920 - TCGA-EE-A29B-06 COSM3577717 c.2663C>T p.S888L Substitution - Missense 2:218457142-218457142 - TCGA-B0-4811-01 COSM476915 c.1544C>A p.P515Q Substitution - Missense 2:218488350-218488350 - TCGA-22-5472-01 COSM719990 c.1472+1G>A p.? Unknown 2:218495759-218495759 - TCGA-D1-A17Q-01 COSM1016368 c.1216T>G p.L406V Substitution - Missense 2:218497799-218497799 - TCGA-FG-5963-01 COSM3972021 c.158T>C p.L53P Substitution - Missense 2:218553723-218553723 - YUKAT COSM5396207 c.1221C>T p.L407L Substitution - coding silent 2:218497794-218497794 - Pat_24_A COSM5861770 c.478C>T p.R160* Substitution - Nonsense 2:218547043-218547043 - SA102 COSM212120 c.2770G>T p.D924Y Substitution - Missense 2:218455662-218455662 - TCGA-B2-5633-01 COSM476914 c.2920A>G p.T974A Substitution - Missense 2:218454950-218454950 - TCGA-21-5782-01 COSM719992 c.1693C>T p.R565* Substitution - Nonsense 2:218482212-218482212 - TCGA-A4-A48D-01 COSM3991063 c.2383G>A p.D795N Substitution - Missense 2:218466093-218466093 - TCGA-B0-5693-01 COSM476916 c.753A>G p.K251K Substitution - coding silent 2:218534634-218534634 - cSCCP5 COSM137831 c.2527+1G>A p.? Unknown 2:218463305-218463305 - LS411 COSM3043551 c.1678A>G p.I560V Substitution - Missense 2:218482227-218482227 - BN49 COSM1614360 c.2388G>T p.W796C Substitution - Missense 2:218466088-218466088 - TCGA-Q1-A73O-01 COSM4834275 c.1278G>C p.Q426H Substitution - Missense 2:218497737-218497737 - HCC77 COSM1614362 c.1519A>G p.I507V Substitution - Missense 2:218488375-218488375 - pfg043T COSM4764599 c.1185A>C p.K395N Substitution - Missense 2:218497830-218497830 - TCGA-E3-A3E2-01 COSM3372642 c.1717T>A p.S573T Substitution - Missense 2:218482188-218482188 - YUNEKI COSM5396210 c.322C>T p.P108S Substitution - Missense 2:218553559-218553559 - TCGA-B0-5084-01 COSM1494830 c.2396A>G p.Q799R Substitution - Missense 2:218466080-218466080 - ESCC_16 COSM5625821 c.2735A>G p.Y912C Substitution - Missense 2:218455697-218455697 - RK170_C01 COSM1631845 c.1976C>T p.S659F Substitution - Missense 2:218476907-218476907 - TCGA-B5-A0JY-01 COSM1016362 c.1597G>T p.E533* Substitution - Nonsense 2:218485737-218485737 - BN49 COSM1614361 c.2387G>T p.W796L Substitution - Missense 2:218466089-218466089 - T3021 COSM1016378 c.680C>T p.S227L Substitution - Missense 2:218546221-218546221 - TCGA-CD-5801-01 COSM4091446 c.2031A>G p.E677E Substitution - coding silent 2:218476852-218476852 - YUNEKI COSM5396209 c.779-1G>T p.? Unknown 2:218530041-218530041 - B85-0 COSM1745519 c.945_946insG p.L316fs*4 Insertion - Frameshift 2:218510058-218510059 - TCGA-29-1691-01 COSM1326420 c.2927G>A p.R976H Substitution - Missense 2:218454943-218454943 - HT115 COSM3043579 c.121C>A p.H41N Substitution - Missense 2:218558533-218558533 - T3182 COSM4739819 c.497C>T p.P166L Substitution - Missense 2:218547024-218547024 - TCGA-A6-6780-01 COSM1016350 c.2753C>T p.A918V Substitution - Missense 2:218455679-218455679 - PTC-14C COSM4133450 c.291G>T p.L97F Substitution - Missense 2:218553590-218553590 - PCSI_0233_Pa_P_526 COSM4961825 c.1323A>G p.K441K Substitution - coding silent 2:218495909-218495909 - 1_RESISTANT COSM1720950 c.23G>T p.G8V Substitution - Missense 2:218558631-218558631 - TCGA-BS-A0TA-01 COSM1016372 c.832G>A p.E278K Substitution - Missense 2:218529987-218529987 - 16 COSM3735602 c.913C>T p.L305F Substitution - Missense 2:218510091-218510091 - PTC-14C COSM4133452 c.289T>G p.L97V Substitution - Missense 2:218553592-218553592 - Pat_06_A COSM5861769 c.935C>T p.S312F Substitution - Missense 2:218510069-218510069 - RK121_C01 COSM3743595 c.986G>A p.R329K Substitution - Missense 2:218510018-218510018 - TCGA-AN-A0AK-01 COSM3838594 c.18A>G p.I6M Substitution - Missense 2:218558636-218558636 - S02402 COSM5700194 c.2284A>G p.T762A Substitution - Missense 2:218474645-218474645 - CSCC-19-T COSM4471992 c.1753C>T p.P585S Substitution - Missense 2:218482152-218482152 - C10 COSM4616560 c.699A>G p.T233T Substitution - coding silent 2:218534688-218534688 - 449 COSM4435486 c.1138C>G p.P380A Substitution - Missense 2:218498045-218498045 - Pat_41_B COSM5861771 c.70G>A p.E24K Substitution - Missense 2:218558584-218558584 - TCGA-HF-7132-01 COSM3043533 c.2511C>T p.T837T Substitution - coding silent 2:218463322-218463322 - PD9467a COSM5800239 c.1880C>T p.T627I Substitution - Missense 2:218479671-218479671 - HCC159T COSM3709413 c.1507A>G p.N503D Substitution - Missense 2:218488387-218488387 - TCGA-61-2610-02 COSM1326418 c.1510G>A p.D504N Substitution - Missense 2:218488384-218488384 - AOCS-091-1-3 COSM3043545 c.1972C>T p.R658C Substitution - Missense 2:218476911-218476911 - TCGA-A6-5665-01 COSM1405464 c.2231A>G p.D744G Substitution - Missense 2:218474698-218474698 - TCGA-B2-5635-01 COSM476917 c.412T>C p.S138P Substitution - Missense 2:218549826-218549826 - QC2-03-T2 COSM5656363 c.2401_2403delGAT p.D801delD Deletion - In frame 2:218466073-218466075 - ESCC-070T COSM3938917 c.2930A>G p.Q977R Substitution - Missense 2:218454940-218454940 - B78-Tumor COSM1752342 c.2080G>A p.E694K Substitution - Missense 2:218474849-218474849 - TCGA-D1-A16X-01 COSM1016364 c.1567G>T p.D523Y Substitution - Missense 2:218488327-218488327 - TCGA-AN-A046-01 COSM3838592 c.722C>A p.T241N Substitution - Missense 2:218534665-218534665 - TCGA-CA-6717-01 COSM1405466 c.489T>C p.L163L Substitution - coding silent 2:218547032-218547032 - TCGA-C5-A1MH-01 COSM4821025 c.1056G>A p.M352I Substitution - Missense 2:218498127-218498127 - T2940 COSM4739814 c.2802C>T p.A934A Substitution - coding silent 2:218455630-218455630 - T3 COSM5344019 c.167A>T p.N56I Substitution - Missense 2:218553714-218553714 - 24T COSM107705 c.1528C>T p.P510S Substitution - Missense 2:218488366-218488366 - TCGA-HC-7209-01 COSM3673607 c.2016C>A p.N672K Substitution - Missense 2:218476867-218476867 - BHY COSM3043558 c.1259G>A p.R420K Substitution - Missense 2:218497756-218497756 - 2318496 COSM4777319 c.2903G>A p.S968N Substitution - Missense 2:218454967-218454967 - RK023_C01 COSM1631844 c.2564A>C p.D855A Substitution - Missense 2:218459869-218459869 - TCGA-BR-A4QL-01 COSM4091448 c.1159C>T p.R387C Substitution - Missense 2:218497856-218497856 - TCGA-BR-6452-01 COSM4091449 c.542G>A p.R181Q Substitution - Missense 2:218546979-218546979 - TCGA-09-2050-01 COSM80731 c.2622G>A p.E874E Substitution - coding silent 2:218459811-218459811 - TCGA-FW-A3R5-06 COSM3909598 c.10C>T p.L4L Substitution - coding silent 2:218558644-218558644 - TCGA-EE-A3AG-06 COSM3577719 c.1681C>T p.L561F Substitution - Missense 2:218482224-218482224 - YUSCO COSM1692011 c.2932G>A p.A978T Substitution - Missense 2:218454938-218454938 - H1299 COSM1193403 c.746G>A p.S249N Substitution - Missense 2:218534641-218534641 - TCGA-HU-A4GN-01 COSM3043569 c.680+1G>A p.? Unknown 2:218546220-218546220 - HCC127T COSM5822941 c.682A>G p.N228D Substitution - Missense 2:218534705-218534705 - TCGA-D1-A174-01 COSM1016350 c.2753C>T p.A918V Substitution - Missense 2:218455679-218455679 - HCC77T COSM1614362 c.1519A>G p.I507V Substitution - Missense 2:218488375-218488375 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.166068 2q35

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.2299+3386T>G 2 219335967 CLL A C IntronicSNV . c.2852+52T>G 2 219320251 STAD A C Missense p.L841R c.2522T>G 2 219328034 LUSC A C Missense p.V162G c.485T>G 2 219411759 CM A C Missense p.V894G c.2681T>G 2 219321847 LGG A G Missense p.L437S c.1310T>C 2 219360645 CM A G Missense p.L53P c.158T>C 2 219418446 LGG A T Missense p.S573T c.1717T>A 2 219346911 THCA C A IntronicSNV . c.328+1607G>T 2 219416669 CLL C A Missense p.D924Y c.2770G>T 2 219320385 BRCA C A Missense p.G271C c.811G>T 2 219394731 LUSC C A Missense p.G8V c.23G>T 2 219423354 RCCC C A Missense p.R71L c.212G>T 2 219418392 UCEC C A Missense p.V548F c.1642G>T 2 219350415 LUSC C A Missense p.V863F c.2587G>T 2 219324569 CM C A SpliceAcceptorSNV . c.2467-1G>T 2 219328090 CM C A Synonymous p.L440L c.1320G>T 2 219360635 BLCA C G 5-UTRSNV . c.1-4085G>C 2 219427461 HC C G Missense p.D218H c.652G>C 2 219410972 BRCA C G Missense p.E203Q c.607G>C 2 219411017 BRCA C G Missense p.E535Q c.1603G>C 2 219350454 CM C G Missense p.G859R c.2575G>C 2 219324581 BLCA C T 5-UTRSNV . c.1-9645G>A 2 219433021 DLBCL C T Missense p.A611T c.1831G>A 2 219346797 UCEC C T Missense p.E278K c.832G>A 2 219394710 UCEC C T Missense p.E838K c.2512G>A 2 219328044 CM C T Missense p.G883E c.2648G>A 2 219321880 STAD C T Missense p.G943D c.2828G>A 2 219320327 CM C T Missense p.S896N c.2687G>A 2 219321841 UCEC C T Missense p.V291I c.871G>A 2 219374856 BRCA C T SpliceAcceptorSNV . c.1282-1G>A 2 219360674 CM C T SpliceDonorSNV . c.1472+1G>A 2 219360482 LUSC C T Synonymous p.E874E c.2622G>A 2 219324534 OV G A Missense p.A413V c.1238C>T 2 219362500 CM G A Missense p.L561F c.1681C>T 2 219346947 CM G A Missense p.P263S c.787C>T 2 219394755 CM G A Missense p.P517S c.1549C>T 2 219353068 CM G A Missense p.P518L c.1553C>T 2 219353064 CM G A Missense p.P749L c.2246C>T 2 219339406 CM G A Missense p.R181W c.541C>T 2 219411703 CM G A Missense p.R201C c.601C>T 2 219411643 CM G A Missense p.S888L c.2663C>T 2 219321865 CM G A Nonsense p.R565* c.1693C>T 2 219346935 LUSC G A Synonymous p.C647C c.1941C>T 2 219341665 CM G A Synonymous p.S847S c.2541C>T 2 219324615 CM G C Missense p.F421L c.1263C>G 2 219362475 HNSC G T Missense p.N672K c.2016C>A 2 219341590 PRAD G T Missense p.P515Q c.1544C>A 2 219353073 RCCC G T Missense p.P515T c.1543C>A 2 219353074 PRAD G T Missense p.Q817K c.2449C>A 2 219330750 RCCC G T Synonymous p.L505L c.1515C>A 2 219353102 PRAD T A Missense p.K230M c.689A>T 2 219399421 OV T C IntronicSNV . c.328+1424A>G 2 219416852 CLL T C Missense p.H430R c.1289A>G 2 219360666 STAD T C Missense p.I763V c.2287A>G 2 219339365 STAD T C Synonymous p.E677E c.2031A>G 2 219341575 STAD T C Synonymous p.R614R c.1842A>G 2 219344432 UCEC T G Missense p.D855A c.2564A>C 2 219324592 HC T G Synonymous p.T233T c.699A>C 2 219399411 UCEC