Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 19 36574056 36574056 + Missense_Mutation SNP C C G TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr19:36574056C>G c.1463C>G c.(1462-1464)cCc>cGc p.P488R BLCA 19 36545979 36545979 + Missense_Mutation SNP C C T TCGA-4Z-AA80-01A-11D-A391-08 TCGA-4Z-AA80-10A-01D-A394-08 g.chr19:36545979C>T c.106C>T c.(106-108)Ccc>Tcc p.P36S BLCA 19 36550873 36550873 + Missense_Mutation SNP T T G TCGA-UY-A78O-01A-12D-A339-08 TCGA-UY-A78O-10A-01D-A339-08 g.chr19:36550873T>G c.273T>G c.(271-273)tgT>tgG p.C91W BLCA 19 36558266 36558266 + Missense_Mutation SNP C C T TCGA-GU-A767-01A-11D-A32B-08 TCGA-GU-A767-10A-01D-A329-08 g.chr19:36558266C>T c.620C>T c.(619-621)tCa>tTa p.S207L BLCA 19 36558747 36558747 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chr19:36558747C>T c.717C>T c.(715-717)ccC>ccT p.P239P BLCA 19 36562497 36562497 + Missense_Mutation SNP A A G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 g.chr19:36562497A>G c.922A>G c.(922-924)Atc>Gtc p.I308V BLCA 19 36572381 36572381 + Missense_Mutation SNP C C T TCGA-E7-A6MF-01A-12D-A32B-08 TCGA-E7-A6MF-10B-01D-A329-08 g.chr19:36572381C>T c.1280C>T c.(1279-1281)tCc>tTc p.S427F BLCA 19 36574043 36574043 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 g.chr19:36574043G>A c.1450G>A c.(1450-1452)Gag>Aag p.E484K BLCA 19 36584982 36584982 + Missense_Mutation SNP G G A TCGA-FD-A43P-01A-31D-A23U-08 TCGA-FD-A43P-10A-01D-A23U-08 g.chr19:36584982G>A c.2383G>A c.(2383-2385)Gga>Aga p.G795R BLCA 19 36590419 36590419 + Missense_Mutation SNP A A G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr19:36590419A>G c.2639A>G c.(2638-2640)cAg>cGg p.Q880R BLCA 19 36591653 36591653 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr19:36591653G>A c.2743G>A c.(2743-2745)Gag>Aag p.E915K BLCA 19 36592144 36592144 + Missense_Mutation SNP G G A TCGA-2F-A9KR-01A-11D-A38G-08 TCGA-2F-A9KR-10A-01D-A38J-08 g.chr19:36592144G>A c.2896G>A c.(2896-2898)Ggg>Agg p.G966R BLCA 19 36593683 36593683 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr19:36593683G>A c.3250G>A c.(3250-3252)Gaa>Aaa p.E1084K BLCA 19 36593977 36593977 + Splice_Site SNP G G A TCGA-BL-A5ZZ-01A-31D-A30E-08 TCGA-BL-A5ZZ-10A-01D-A30H-08 g.chr19:36593977G>A c.e28+1 BLCA 19 36594265 36594265 + Missense_Mutation SNP G G A TCGA-4Z-AA7R-01A-11D-A391-08 TCGA-4Z-AA7R-10A-01D-A394-08 g.chr19:36594265G>A c.3520G>A c.(3520-3522)Gcg>Acg p.A1174T BLCA 19 36594302 36594302 + Missense_Mutation SNP A A G TCGA-YF-AA3L-01A-11D-A38G-08 TCGA-YF-AA3L-10A-01D-A38J-08 g.chr19:36594302A>G c.3557A>G c.(3556-3558)gAc>gGc p.D1186G BRCA 19 36558877 36558877 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr19:36558877G>C c.847G>C c.(847-849)Gag>Cag p.E283Q BRCA 19 36574083 36574083 + Missense_Mutation SNP T T G TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr19:36574083T>G c.1490T>G c.(1489-1491)gTc>gGc p.V497G BRCA 19 36577707 36577707 + Silent SNP G G A TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chr19:36577707G>A c.1761G>A c.(1759-1761)aaG>aaA p.K587K BRCA 19 36584983 36584983 + Missense_Mutation SNP G G A TCGA-BH-A0B1-01A-12W-A071-09 TCGA-BH-A0B1-10A-01W-A071-09 g.chr19:36584983G>A c.2384G>A c.(2383-2385)gGa>gAa p.G795E BRCA 19 36584985 36584985 + Missense_Mutation SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 g.chr19:36584985G>A c.2386G>A c.(2386-2388)Gag>Aag p.E796K BRCA 19 36584994 36584994 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr19:36584994G>A c.2395G>A c.(2395-2397)Gag>Aag p.E799K BRCA 19 36590458 36590458 + Missense_Mutation SNP G G A TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chr19:36590458G>A c.2678G>A c.(2677-2679)aGt>aAt p.S893N CESC 19 36590358 36590358 + Missense_Mutation SNP C C G TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 g.chr19:36590358C>G c.2578C>G c.(2578-2580)Ccc>Gcc p.P860A CESC 19 36593869 36593869 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 g.chr19:36593869C>T c.3340C>T c.(3340-3342)Ccc>Tcc p.P1114S CESC 19 36594670 36594670 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr19:36594670G>A c.3925G>A c.(3925-3927)Gat>Aat p.D1309N CESC 19 36595563 36595563 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr19:36595563G>C c.4282G>C c.(4282-4284)Gac>Cac p.D1428H COAD 19 36557214 36557214 + Missense_Mutation SNP C C T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr19:36557214C>T c.446C>T c.(445-447)gCg>gTg p.A149V COAD 19 36564287 36564287 + Missense_Mutation SNP G G A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr19:36564287G>A c.1087G>A c.(1087-1089)Gtg>Atg p.V363M COAD 19 36573979 36573979 + Silent SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr19:36573979C>T c.1386C>T c.(1384-1386)gtC>gtT p.V462V COAD 19 36574080 36574080 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr19:36574080G>A c.1487G>A c.(1486-1488)cGg>cAg p.R496Q COAD 19 36579993 36579993 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr19:36579993C>T c.1822C>T c.(1822-1824)Cgc>Tgc p.R608C COAD 19 36580182 36580182 + Silent SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr19:36580182C>T c.1932C>T c.(1930-1932)gcC>gcT p.A644A COAD 19 36583698 36583698 + Missense_Mutation SNP G G A TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr19:36583698G>A c.2318G>A c.(2317-2319)cGg>cAg p.R773Q COAD 19 36590341 36590341 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr19:36590341C>T c.2561C>T c.(2560-2562)gCc>gTc p.A854V COAD 19 36590380 36590380 + Missense_Mutation SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr19:36590380G>A c.2600G>A c.(2599-2601)cGg>cAg p.R867Q COAD 19 36591650 36591650 + Splice_Site SNP T T G TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr19:36591650T>G c.2740T>G c.(2740-2742)Tca>Gca p.S914A COAD 19 36592212 36592212 + Silent SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr19:36592212G>A c.2964G>A c.(2962-2964)ccG>ccA p.P988P COAD 19 36592920 36592920 + Silent SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr19:36592920C>T c.3087C>T c.(3085-3087)tgC>tgT p.C1029C COAD 19 36593664 36593664 + Silent SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr19:36593664C>T c.3231C>T c.(3229-3231)gaC>gaT p.D1077D COAD 19 36594064 36594064 + Missense_Mutation SNP G G T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr19:36594064G>T c.3454G>T c.(3454-3456)Gct>Tct p.A1152S COAD 19 36594788 36594788 + Missense_Mutation SNP C C T TCGA-AA-3955-01A-02W-0995-10 TCGA-AA-3955-10A-01W-0995-10 g.chr19:36594788C>T c.4043C>T c.(4042-4044)tCc>tTc p.S1348F COAD 19 36595488 36595488 + Missense_Mutation SNP C C T TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr19:36595488C>T c.4207C>T c.(4207-4209)Ccc>Tcc p.P1403S COAD 19 36595793 36595793 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr19:36595793G>A c.4420G>A c.(4420-4422)Gcc>Acc p.A1474T COADREAD 19 36557214 36557214 + Missense_Mutation SNP C C T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr19:36557214C>T c.446C>T c.(445-447)gCg>gTg p.A149V COADREAD 19 36564287 36564287 + Missense_Mutation SNP G G A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr19:36564287G>A c.1087G>A c.(1087-1089)Gtg>Atg p.V363M COADREAD 19 36573979 36573979 + Silent SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr19:36573979C>T c.1386C>T c.(1384-1386)gtC>gtT p.V462V COADREAD 19 36574080 36574080 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr19:36574080G>A c.1487G>A c.(1486-1488)cGg>cAg p.R496Q COADREAD 19 36575580 36575580 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr19:36575580G>A c.1576G>A c.(1576-1578)Gag>Aag p.E526K COADREAD 19 36579993 36579993 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr19:36579993C>T c.1822C>T c.(1822-1824)Cgc>Tgc p.R608C COADREAD 19 36580182 36580182 + Silent SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr19:36580182C>T c.1932C>T c.(1930-1932)gcC>gcT p.A644A COADREAD 19 36583698 36583698 + Missense_Mutation SNP G G A TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr19:36583698G>A c.2318G>A c.(2317-2319)cGg>cAg p.R773Q COADREAD 19 36590341 36590341 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr19:36590341C>T c.2561C>T c.(2560-2562)gCc>gTc p.A854V COADREAD 19 36590380 36590380 + Missense_Mutation SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr19:36590380G>A c.2600G>A c.(2599-2601)cGg>cAg p.R867Q COADREAD 19 36591650 36591650 + Splice_Site SNP T T G TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr19:36591650T>G c.2740T>G c.(2740-2742)Tca>Gca p.S914A COADREAD 19 36592212 36592212 + Silent SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr19:36592212G>A c.2964G>A c.(2962-2964)ccG>ccA p.P988P COADREAD 19 36592920 36592920 + Silent SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr19:36592920C>T c.3087C>T c.(3085-3087)tgC>tgT p.C1029C COADREAD 19 36593664 36593664 + Silent SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr19:36593664C>T c.3231C>T c.(3229-3231)gaC>gaT p.D1077D COADREAD 19 36594064 36594064 + Missense_Mutation SNP G G T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr19:36594064G>T c.3454G>T c.(3454-3456)Gct>Tct p.A1152S COADREAD 19 36594788 36594788 + Missense_Mutation SNP C C T TCGA-AA-3955-01A-02W-0995-10 TCGA-AA-3955-10A-01W-0995-10 g.chr19:36594788C>T c.4043C>T c.(4042-4044)tCc>tTc p.S1348F COADREAD 19 36595488 36595488 + Missense_Mutation SNP C C T TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr19:36595488C>T c.4207C>T c.(4207-4209)Ccc>Tcc p.P1403S COADREAD 19 36595793 36595793 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr19:36595793G>A c.4420G>A c.(4420-4422)Gcc>Acc p.A1474T DLBC 19 36583692 36583692 + Missense_Mutation SNP A A G TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr19:36583692A>G c.2312A>G c.(2311-2313)aAg>aGg p.K771R DLBC 19 36594404 36594404 + Missense_Mutation SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr19:36594404G>A c.3659G>A c.(3658-3660)cGt>cAt p.R1220H DLBC 19 36594676 36594676 + Missense_Mutation SNP C C G TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr19:36594676C>G c.3931C>G c.(3931-3933)Cag>Gag p.Q1311E ESCA 19 36562584 36562584 + Missense_Mutation SNP C C G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 g.chr19:36562584C>G c.1009C>G c.(1009-1011)Ctt>Gtt p.L337V ESCA 19 36573985 36573985 + Nonsense_Mutation SNP C C G TCGA-LN-A9FP-01A-31D-A387-09 TCGA-LN-A9FP-10A-01D-A38A-09 g.chr19:36573985C>G c.1392C>G c.(1390-1392)taC>taG p.Y464* GBMLGG 19 36572456 36572456 + Missense_Mutation SNP A A T TCGA-CS-6667-01A-12D-2024-08 TCGA-CS-6667-10A-01D-2024-08 g.chr19:36572456A>T c.1355A>T c.(1354-1356)aAa>aTa p.K452I GBMLGG 19 36590446 36590447 + In_Frame_Ins INS - - GAAGCC TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 g.chr19:36590446_36590447insGAAGCC c.2666_2667insGAAGCC c.(2665-2670)atgaag>atGAAGCCgaag p.890_891insPK GBMLGG 19 36594735 36594735 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:36594735C>T c.3990C>T c.(3988-3990)agC>agT p.S1330S HNSC 19 36550887 36550887 + Missense_Mutation SNP T T G TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 g.chr19:36550887T>G c.287T>G c.(286-288)tTg>tGg p.L96W HNSC 19 36557244 36557244 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 g.chr19:36557244C>A c.476C>A c.(475-477)gCg>gAg p.A159E HNSC 19 36558321 36558321 + Silent SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 g.chr19:36558321C>T c.675C>T c.(673-675)ttC>ttT p.F225F HNSC 19 36562515 36562515 + Missense_Mutation SNP G G A TCGA-D6-A6ES-01A-12D-A31L-08 TCGA-D6-A6ES-10A-01D-A31J-08 g.chr19:36562515G>A c.940G>A c.(940-942)Gat>Aat p.D314N HNSC 19 36562559 36562559 + Silent SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 g.chr19:36562559C>T c.984C>T c.(982-984)ctC>ctT p.L328L HNSC 19 36572337 36572337 + Silent SNP G G A TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 g.chr19:36572337G>A c.1236G>A c.(1234-1236)gtG>gtA p.V412V HNSC 19 36572390 36572390 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 g.chr19:36572390C>T c.1289C>T c.(1288-1290)aCt>aTt p.T430I HNSC 19 36573968 36573968 + Silent SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr19:36573968C>T c.1375C>T c.(1375-1377)Ctg>Ttg p.L459L HNSC 19 36583698 36583698 + Missense_Mutation SNP G G A TCGA-CV-A6JM-01A-11D-A31L-08 TCGA-CV-A6JM-10A-01D-A31J-08 g.chr19:36583698G>A c.2318G>A c.(2317-2319)cGg>cAg p.R773Q HNSC 19 36593683 36593683 + Missense_Mutation SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 g.chr19:36593683G>A c.3250G>A c.(3250-3252)Gaa>Aaa p.E1084K HNSC 19 36594781 36594781 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 g.chr19:36594781C>G c.4036C>G c.(4036-4038)Cct>Gct p.P1346A HNSC 19 36595903 36595903 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr19:36595903C>T c.4530C>T c.(4528-4530)gcC>gcT p.A1510A KICH 19 36558850 36558851 + Frame_Shift_Ins INS - - AC TCGA-KL-8323-01A-21D-2310-10 TCGA-KL-8323-11A-01D-2310-10 g.chr19:36558850_36558851insAC c.820_821insAC c.(820-822)tacfs p.Y274fs KICH 19 36558851 36558852 + Frame_Shift_Ins INS - - AC TCGA-KL-8323-01A-21D-2310-10 TCGA-KL-8323-11A-01D-2310-10 g.chr19:36558851_36558852insAC c.821_822insAC c.(820-825)tactcgfs p.YS274fs KICH 19 36592604 36592604 + Missense_Mutation SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr19:36592604G>A c.3010G>A c.(3010-3012)Gca>Aca p.A1004T KIPAN 19 36558850 36558851 + Frame_Shift_Ins INS - - AC TCGA-KL-8323-01A-21D-2310-10 TCGA-KL-8323-11A-01D-2310-10 g.chr19:36558850_36558851insAC c.820_821insAC c.(820-822)tacfs p.Y274fs KIPAN 19 36558851 36558852 + Frame_Shift_Ins INS - - AC TCGA-KL-8323-01A-21D-2310-10 TCGA-KL-8323-11A-01D-2310-10 g.chr19:36558851_36558852insAC c.821_822insAC c.(820-825)tactcgfs p.YS274fs KIPAN 19 36574074 36574074 + Missense_Mutation SNP G G A TCGA-B8-4153-01B-11D-1669-08 TCGA-B8-4153-11A-01D-1669-08 g.chr19:36574074G>A c.1481G>A c.(1480-1482)gGg>gAg p.G494E KIPAN 19 36575625 36575625 + Nonsense_Mutation SNP G G T TCGA-B0-4694-01A-01D-1361-10 TCGA-B0-4694-11A-01D-1361-10 g.chr19:36575625G>T c.1621G>T c.(1621-1623)Gag>Tag p.E541* KIPAN 19 36592604 36592604 + Missense_Mutation SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr19:36592604G>A c.3010G>A c.(3010-3012)Gca>Aca p.A1004T KIPAN 19 36593730 36593730 + Frame_Shift_Del DEL C C - TCGA-B2-4099-01A-02D-1251-10 TCGA-B2-4099-11A-01D-1251-10 g.chr19:36593730delC c.3297delC c.(3295-3297)ctcfs p.L1099fs KIPAN 19 36593732 36593733 + Frame_Shift_Del DEL CA CA - TCGA-B2-4099-01A-02D-1251-10 TCGA-B2-4099-11A-01D-1251-10 g.chr19:36593732_36593733delCA c.3299_3300delCA c.(3298-3300)tcafs p.S1101fs KIRC 19 36574074 36574074 + Missense_Mutation SNP G G A TCGA-B8-4153-01B-11D-1669-08 TCGA-B8-4153-11A-01D-1669-08 g.chr19:36574074G>A c.1481G>A c.(1480-1482)gGg>gAg p.G494E KIRC 19 36575625 36575625 + Nonsense_Mutation SNP G G T TCGA-B0-4694-01A-01D-1361-10 TCGA-B0-4694-11A-01D-1361-10 g.chr19:36575625G>T c.1621G>T c.(1621-1623)Gag>Tag p.E541* KIRC 19 36593730 36593730 + Frame_Shift_Del DEL C C - TCGA-B2-4099-01A-02D-1251-10 TCGA-B2-4099-11A-01D-1251-10 g.chr19:36593730delC c.3297delC c.(3295-3297)ctcfs p.L1099fs KIRC 19 36593732 36593733 + Frame_Shift_Del DEL CA CA - TCGA-B2-4099-01A-02D-1251-10 TCGA-B2-4099-11A-01D-1251-10 g.chr19:36593732_36593733delCA c.3299_3300delCA c.(3298-3300)tcafs p.S1101fs LGG 19 36572456 36572456 + Missense_Mutation SNP A A T TCGA-CS-6667-01A-12D-2024-08 TCGA-CS-6667-10A-01D-2024-08 g.chr19:36572456A>T c.1355A>T c.(1354-1356)aAa>aTa p.K452I LGG 19 36590446 36590447 + In_Frame_Ins INS - - GAAGCC TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 g.chr19:36590446_36590447insGAAGCC c.2666_2667insGAAGCC c.(2665-2670)atgaag>atGAAGCCgaag p.890_891insPK LGG 19 36594735 36594735 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:36594735C>T c.3990C>T c.(3988-3990)agC>agT p.S1330S LIHC 19 36545927 36545927 + Silent SNP G G A TCGA-DD-AACZ-01A-11D-A40R-10 TCGA-DD-AACZ-10A-01D-A40U-10 g.chr19:36545927G>A c.54G>A c.(52-54)ctG>ctA p.L18L LIHC 19 36592199 36592199 + Missense_Mutation SNP A A T TCGA-DD-AADO-01A-11D-A40R-10 TCGA-DD-AADO-10A-01D-A40U-10 g.chr19:36592199A>T c.2951A>T c.(2950-2952)aAg>aTg p.K984M LUAD 19 36557325 36557325 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 g.chr19:36557325G>T c.557G>T c.(556-558)tGg>tTg p.W186L LUAD 19 36558728 36558728 + Splice_Site SNP A A T TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr19:36558728A>T c.e7-1 LUAD 19 36562587 36562587 + Missense_Mutation SNP G G T TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr19:36562587G>T c.1012G>T c.(1012-1014)Ggg>Tgg p.G338W LUAD 19 36562599 36562599 + Missense_Mutation SNP G G T TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr19:36562599G>T c.1024G>T c.(1024-1026)Gca>Tca p.A342S LUAD 19 36564349 36564349 + Silent SNP C C T TCGA-17-Z057-01A-01W-0747-08 TCGA-17-Z057-11A-01W-0747-08 g.chr19:36564349C>T c.1149C>T c.(1147-1149)atC>atT p.I383I LUAD 19 36564398 36564398 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 g.chr19:36564398G>A c.1198G>A c.(1198-1200)Gag>Aag p.E400K LUAD 19 36577668 36577668 + Missense_Mutation SNP G G T TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr19:36577668G>T c.1722G>T c.(1720-1722)caG>caT p.Q574H LUAD 19 36580003 36580003 + Missense_Mutation SNP A A T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 g.chr19:36580003A>T c.1832A>T c.(1831-1833)cAg>cTg p.Q611L LUAD 19 36580087 36580087 + Splice_Site SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 g.chr19:36580087G>T c.1837G>T c.(1837-1839)Ggt>Tgt p.G613C LUAD 19 36584997 36584997 + Missense_Mutation SNP G G A TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr19:36584997G>A c.2398G>A c.(2398-2400)Gat>Aat p.D800N LUAD 19 36587934 36587934 + Missense_Mutation SNP C C T TCGA-80-5611-01A-01D-1625-08 TCGA-80-5611-10A-01D-1625-08 g.chr19:36587934C>T c.2473C>T c.(2473-2475)Cgt>Tgt p.R825C LUAD 19 36590345 36590345 + Missense_Mutation SNP G G T TCGA-44-5643-01A-01D-1625-08 TCGA-44-5643-10A-01D-1625-08 g.chr19:36590345G>T c.2565G>T c.(2563-2565)aaG>aaT p.K855N LUAD 19 36590381 36590381 + Silent SNP G G T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr19:36590381G>T c.2601G>T c.(2599-2601)cgG>cgT p.R867R LUSC 19 36546012 36546012 + Nonsense_Mutation SNP C C T TCGA-66-2793-01A-01D-1267-08 TCGA-66-2793-11A-01D-1267-08 g.chr19:36546012C>T c.139C>T c.(139-141)Cga>Tga p.R47* LUSC 19 36549714 36549714 + Silent SNP C C A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 g.chr19:36549714C>A c.210C>A c.(208-210)gcC>gcA p.A70A LUSC 19 36549728 36549728 + Missense_Mutation SNP G G T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 g.chr19:36549728G>T c.224G>T c.(223-225)gGc>gTc p.G75V LUSC 19 36557157 36557157 + Splice_Site SNP A A G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 g.chr19:36557157A>G c.e5-1 LUSC 19 36594257 36594257 + Missense_Mutation SNP C C T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 g.chr19:36594257C>T c.3512C>T c.(3511-3513)aCg>aTg p.T1171M OV 19 36593926 36593926 + Missense_Mutation SNP G G A TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 g.chr19:36593926G>A c.3397G>A c.(3397-3399)Gga>Aga p.G1133R PAAD 19 36572414 36572414 + Missense_Mutation SNP G G T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 g.chr19:36572414G>T c.1313G>T c.(1312-1314)cGc>cTc p.R438L PAAD 19 36590347 36590347 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:36590347G>A c.2567G>A c.(2566-2568)cGc>cAc p.R856H PCPG 19 36579971 36579971 + Silent SNP G G T TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 g.chr19:36579971G>T c.1800G>T c.(1798-1800)ggG>ggT p.G600G PCPG 19 36585023 36585023 + Silent SNP A A T TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 g.chr19:36585023A>T c.2424A>T c.(2422-2424)ccA>ccT p.P808P PRAD 19 36557276 36557276 + Missense_Mutation SNP A A G TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr19:36557276A>G c.508A>G c.(508-510)Atc>Gtc p.I170V PRAD 19 36582178 36582178 + Missense_Mutation SNP C C T TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 g.chr19:36582178C>T c.2111C>T c.(2110-2112)tCg>tTg p.S704L PRAD 19 36594100 36594100 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr19:36594100C>T c.3490C>T c.(3490-3492)Cgc>Tgc p.R1164C PRAD 19 36594432 36594432 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr19:36594432C>T c.3687C>T c.(3685-3687)ctC>ctT p.L1229L READ 19 36575580 36575580 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr19:36575580G>A c.1576G>A c.(1576-1578)Gag>Aag p.E526K SKCM 19 36557193 36557193 + Missense_Mutation SNP T T G TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr19:36557193T>G c.425T>G c.(424-426)gTg>gGg p.V142G SKCM 19 36557283 36557283 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr19:36557283C>T c.515C>T c.(514-516)tCc>tTc p.S172F SKCM 19 36558741 36558741 + Silent SNP A A T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr19:36558741A>T c.711A>T c.(709-711)acA>acT p.T237T SKCM 19 36558769 36558769 + Silent SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr19:36558769C>T c.739C>T c.(739-741)Ctg>Ttg p.L247L SKCM 19 36562584 36562584 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr19:36562584C>T c.1009C>T c.(1009-1011)Ctt>Ttt p.L337F SKCM 19 36572341 36572341 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr19:36572341C>T c.1240C>T c.(1240-1242)Cct>Tct p.P414S SKCM 19 36572471 36572471 + Splice_Site SNP A A G TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 g.chr19:36572471A>G c.1370A>G c.(1369-1371)aAt>aGt p.N457S SKCM 19 36574029 36574029 + Missense_Mutation SNP C C T TCGA-EE-A2GM-06B-11D-A196-08 TCGA-EE-A2GM-10A-01D-A198-08 g.chr19:36574029C>T c.1436C>T c.(1435-1437)cCa>cTa p.P479L SKCM 19 36575559 36575559 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr19:36575559C>T c.1555C>T c.(1555-1557)Cac>Tac p.H519Y SKCM 19 36575559 36575559 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr19:36575559C>T c.1555C>T c.(1555-1557)Cac>Tac p.H519Y SKCM 19 36577616 36577616 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 g.chr19:36577616G>A c.1670G>A c.(1669-1671)cGg>cAg p.R557Q SKCM 19 36577617 36577617 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 g.chr19:36577617G>A c.1671G>A c.(1669-1671)cgG>cgA p.R557R SKCM 19 36577688 36577688 + Missense_Mutation SNP C C T TCGA-EB-A5SG-06A-11D-A30X-08 TCGA-EB-A5SG-10A-01D-A30X-08 g.chr19:36577688C>T c.1742C>T c.(1741-1743)tCc>tTc p.S581F SKCM 19 36581413 36581413 + Silent SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr19:36581413C>T c.2025C>T c.(2023-2025)tcC>tcT p.S675S SKCM 19 36582358 36582358 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr19:36582358C>T c.2201C>T c.(2200-2202)tCt>tTt p.S734F SKCM 19 36583618 36583618 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 g.chr19:36583618G>A c.2238G>A c.(2236-2238)ccG>ccA p.P746P SKCM 19 36587934 36587934 + Missense_Mutation SNP C C T TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chr19:36587934C>T c.2473C>T c.(2473-2475)Cgt>Tgt p.R825C SKCM 19 36590354 36590354 + Silent SNP C C T TCGA-EE-A183-06A-11D-A196-08 TCGA-EE-A183-10A-01D-A198-08 g.chr19:36590354C>T c.2574C>T c.(2572-2574)taC>taT p.Y858Y SKCM 19 36590396 36590396 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr19:36590396C>T c.2616C>T c.(2614-2616)ccC>ccT p.P872P SKCM 19 36591688 36591688 + Silent SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr19:36591688C>T c.2778C>T c.(2776-2778)tcC>tcT p.S926S SKCM 19 36591691 36591691 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr19:36591691C>T c.2781C>T c.(2779-2781)ttC>ttT p.F927F SKCM 19 36592210 36592210 + Missense_Mutation SNP C C T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 g.chr19:36592210C>T c.2962C>T c.(2962-2964)Ccg>Tcg p.P988S SKCM 19 36592979 36592979 + Missense_Mutation SNP C C T TCGA-ER-A19E-06A-11D-A197-08 TCGA-ER-A19E-10A-01D-A199-08 g.chr19:36592979C>T c.3146C>T c.(3145-3147)tCc>tTc p.S1049F SKCM 19 36592980 36592980 + Silent SNP C C A TCGA-EE-A2A5-06A-11D-A197-08 TCGA-EE-A2A5-10A-01D-A199-08 g.chr19:36592980C>A c.3147C>A c.(3145-3147)tcC>tcA p.S1049S SKCM 19 36593010 36593010 + Silent SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr19:36593010C>T c.3177C>T c.(3175-3177)ttC>ttT p.F1059F SKCM 19 36593925 36593925 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 g.chr19:36593925C>T c.3396C>T c.(3394-3396)ggC>ggT p.G1132G SKCM 19 36594428 36594428 + Missense_Mutation SNP C C T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 g.chr19:36594428C>T c.3683C>T c.(3682-3684)tCc>tTc p.S1228F SKCM 19 36594429 36594429 + Silent SNP C C T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 g.chr19:36594429C>T c.3684C>T c.(3682-3684)tcC>tcT p.S1228S

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 19 36545079 36545079 single base substitution G A upstream_gene_variant BLCA-CN 19 36545088 36545088 single base substitution G T upstream_gene_variant BLCA-US 19 36545042 36545042 single base substitution G C upstream_gene_variant BLCA-US 19 36562497 36562497 single base substitution A G downstream_gene_variant BLCA-US 19 36562497 36562497 single base substitution A G exon_variant BLCA-US 19 36562497 36562497 single base substitution A G missense_variant I308V 922A>G BLCA-US 19 36562497 36562497 single base substitution A G upstream_gene_variant BLCA-US 19 36574043 36574043 single base substitution G A 3_prime_UTR_variant BLCA-US 19 36574043 36574043 single base substitution G A downstream_gene_variant BLCA-US 19 36574043 36574043 single base substitution G A missense_variant E484K 1450G>A BLCA-US 19 36590419 36590419 single base substitution A G 3_prime_UTR_variant BLCA-US 19 36590419 36590419 single base substitution A G missense_variant Q880R 2639A>G BLCA-US 19 36591653 36591653 single base substitution G A 3_prime_UTR_variant BLCA-US 19 36591653 36591653 single base substitution G A missense_variant E915K 2743G>A BLCA-US 19 36593683 36593683 single base substitution G A 3_prime_UTR_variant BLCA-US 19 36593683 36593683 single base substitution G A missense_variant E1084K 3250G>A BLCA-US 19 36593683 36593683 single base substitution G A missense_variant E1089K 3265G>A BRCA-EU 19 36541078 36541078 single base substitution C G upstream_gene_variant BRCA-EU 19 36541328 36541328 single base substitution G T upstream_gene_variant BRCA-EU 19 36541686 36541686 single base substitution G C upstream_gene_variant BRCA-EU 19 36541788 36541788 single base substitution G A upstream_gene_variant BRCA-EU 19 36543976 36543976 single base substitution T A upstream_gene_variant BRCA-EU 19 36543987 36543987 single base substitution G C upstream_gene_variant BRCA-EU 19 36544810 36544810 single base substitution C T upstream_gene_variant BRCA-EU 19 36549457 36549457 single base substitution G A intron_variant BRCA-EU 19 36549578 36549578 single base substitution G A intron_variant BRCA-EU 19 36549830 36549830 single base substitution C A intron_variant BRCA-EU 19 36549997 36549997 single base substitution G C intron_variant BRCA-EU 19 36550509 36550509 deletion of <=200bp T - intron_variant BRCA-EU 19 36550526 36550526 single base substitution G A intron_variant BRCA-EU 19 36552011 36552011 single base substitution T C exon_variant BRCA-EU 19 36552011 36552011 single base substitution T C intron_variant BRCA-EU 19 36553814 36553814 single base substitution C T downstream_gene_variant BRCA-EU 19 36553814 36553814 single base substitution C T intron_variant BRCA-EU 19 36554604 36554604 single base substitution C T downstream_gene_variant BRCA-EU 19 36554604 36554604 single base substitution C T intron_variant BRCA-EU 19 36555196 36555196 single base substitution G C downstream_gene_variant BRCA-EU 19 36555196 36555196 single base substitution G C intron_variant BRCA-EU 19 36556677 36556677 single base substitution C T downstream_gene_variant BRCA-EU 19 36556677 36556677 single base substitution C T intron_variant BRCA-EU 19 36559252 36559252 deletion of <=200bp T - intron_variant BRCA-EU 19 36559252 36559252 deletion of <=200bp T - upstream_gene_variant BRCA-EU 19 36560006 36560006 single base substitution C G intron_variant BRCA-EU 19 36560006 36560006 single base substitution C G upstream_gene_variant BRCA-EU 19 36562708 36562708 single base substitution C T downstream_gene_variant BRCA-EU 19 36562708 36562708 single base substitution C T intron_variant BRCA-EU 19 36563305 36563305 single base substitution G A downstream_gene_variant BRCA-EU 19 36563305 36563305 single base substitution G A intron_variant BRCA-EU 19 36563588 36563588 single base substitution G A downstream_gene_variant BRCA-EU 19 36563588 36563588 single base substitution G A intron_variant BRCA-EU 19 36566714 36566714 single base substitution T C downstream_gene_variant BRCA-EU 19 36566714 36566714 single base substitution T C intron_variant BRCA-EU 19 36566722 36566722 single base substitution C G downstream_gene_variant BRCA-EU 19 36566722 36566722 single base substitution C G intron_variant BRCA-EU 19 36566727 36566727 single base substitution A C downstream_gene_variant BRCA-EU 19 36566727 36566727 single base substitution A C intron_variant BRCA-EU 19 36566914 36566914 single base substitution C T downstream_gene_variant BRCA-EU 19 36566914 36566914 single base substitution C T intron_variant BRCA-EU 19 36568243 36568243 single base substitution C T downstream_gene_variant BRCA-EU 19 36568243 36568243 single base substitution C T intron_variant BRCA-EU 19 36568433 36568433 single base substitution C A downstream_gene_variant BRCA-EU 19 36568433 36568433 single base substitution C A intron_variant BRCA-EU 19 36569426 36569426 single base substitution A C downstream_gene_variant BRCA-EU 19 36569426 36569426 single base substitution A C intron_variant BRCA-EU 19 36569962 36569962 insertion of <=200bp - T downstream_gene_variant BRCA-EU 19 36569962 36569962 insertion of <=200bp - T intron_variant BRCA-EU 19 36571953 36571953 single base substitution A T intron_variant BRCA-EU 19 36572187 36572187 deletion of <=200bp T - intron_variant BRCA-EU 19 36573469 36573469 single base substitution C T downstream_gene_variant BRCA-EU 19 36573469 36573469 single base substitution C T intron_variant BRCA-EU 19 36573590 36573590 single base substitution A C downstream_gene_variant BRCA-EU 19 36573590 36573590 single base substitution A C intron_variant BRCA-EU 19 36574472 36574472 single base substitution C T downstream_gene_variant BRCA-EU 19 36574472 36574472 single base substitution C T intron_variant BRCA-EU 19 36575270 36575270 single base substitution A T downstream_gene_variant BRCA-EU 19 36575270 36575270 single base substitution A T intron_variant BRCA-EU 19 36576651 36576651 single base substitution G C downstream_gene_variant BRCA-EU 19 36576651 36576651 single base substitution G C intron_variant BRCA-EU 19 36577699 36577699 single base substitution G A 3_prime_UTR_variant BRCA-EU 19 36577699 36577699 single base substitution G A downstream_gene_variant BRCA-EU 19 36577699 36577699 single base substitution G A missense_variant A585T 1753G>A BRCA-EU 19 36578819 36578819 single base substitution A G intron_variant BRCA-EU 19 36579209 36579209 insertion of <=200bp - A intron_variant BRCA-EU 19 36579713 36579713 single base substitution C T intron_variant BRCA-EU 19 36579993 36579993 single base substitution C T 3_prime_UTR_variant BRCA-EU 19 36579993 36579993 single base substitution C T missense_variant R608C 1822C>T BRCA-EU 19 36580116 36580116 single base substitution C T 3_prime_UTR_variant BRCA-EU 19 36580116 36580116 single base substitution C T synonymous_variant T622T 1866C>T BRCA-EU 19 36580341 36580341 insertion of <=200bp - T intron_variant BRCA-EU 19 36582200 36582200 single base substitution G A 3_prime_UTR_variant BRCA-EU 19 36582200 36582200 single base substitution G A missense_variant M711I 2133G>A BRCA-EU 19 36584288 36584288 single base substitution G T intron_variant BRCA-EU 19 36584294 36584294 single base substitution C G intron_variant BRCA-EU 19 36584336 36584336 single base substitution G C intron_variant BRCA-EU 19 36585941 36585941 single base substitution G A intron_variant BRCA-EU 19 36586140 36586140 single base substitution G A intron_variant BRCA-EU 19 36586666 36586666 single base substitution A T intron_variant BRCA-EU 19 36587247 36587247 single base substitution C T intron_variant BRCA-EU 19 36589204 36589204 single base substitution C T intron_variant BRCA-EU 19 36591299 36591299 single base substitution G T intron_variant BRCA-EU 19 36593019 36593019 single base substitution C A 3_prime_UTR_variant BRCA-EU 19 36593019 36593019 single base substitution C A missense_variant H1062Q 3186C>A BRCA-EU 19 36593174 36593174 insertion of <=200bp - T 3_prime_UTR_variant BRCA-EU 19 36593174 36593174 insertion of <=200bp - T intron_variant BRCA-EU 19 36595451 36595451 single base substitution C G 3_prime_UTR_variant BRCA-EU 19 36595451 36595451 single base substitution C G synonymous_variant A1390A 4170C>G BRCA-EU 19 36595451 36595451 single base substitution C G synonymous_variant A1395A 4185C>G BRCA-EU 19 36596721 36596721 single base substitution C T downstream_gene_variant BRCA-EU 19 36596812 36596812 single base substitution G T downstream_gene_variant BRCA-EU 19 36598097 36598097 single base substitution C T downstream_gene_variant BRCA-EU 19 36599859 36599859 single base substitution C G downstream_gene_variant BRCA-EU 19 36600278 36600278 single base substitution C T downstream_gene_variant BRCA-FR 19 36541686 36541686 single base substitution G C upstream_gene_variant BRCA-FR 19 36543987 36543987 single base substitution G C upstream_gene_variant BRCA-FR 19 36544810 36544810 single base substitution C T upstream_gene_variant BRCA-FR 19 36547587 36547587 single base substitution G C intron_variant BRCA-FR 19 36554039 36554039 single base substitution G T downstream_gene_variant BRCA-FR 19 36554039 36554039 single base substitution G T intron_variant BRCA-FR 19 36554604 36554604 single base substitution C T downstream_gene_variant BRCA-FR 19 36554604 36554604 single base substitution C T intron_variant BRCA-FR 19 36558487 36558487 single base substitution G A downstream_gene_variant BRCA-FR 19 36558487 36558487 single base substitution G A intron_variant BRCA-FR 19 36558487 36558487 single base substitution G A upstream_gene_variant BRCA-FR 19 36565060 36565060 single base substitution C G downstream_gene_variant BRCA-FR 19 36565060 36565060 single base substitution C G exon_variant BRCA-FR 19 36565060 36565060 single base substitution C G intron_variant BRCA-FR 19 36565305 36565305 single base substitution T C downstream_gene_variant BRCA-FR 19 36565305 36565305 single base substitution T C intron_variant BRCA-FR 19 36566722 36566722 single base substitution C G downstream_gene_variant BRCA-FR 19 36566722 36566722 single base substitution C G intron_variant BRCA-FR 19 36566914 36566914 single base substitution C T downstream_gene_variant BRCA-FR 19 36566914 36566914 single base substitution C T intron_variant BRCA-FR 19 36580116 36580116 single base substitution C T 3_prime_UTR_variant BRCA-FR 19 36580116 36580116 single base substitution C T synonymous_variant T622T 1866C>T BRCA-FR 19 36581120 36581120 single base substitution C T intron_variant BRCA-FR 19 36584336 36584336 single base substitution G C intron_variant BRCA-FR 19 36587505 36587505 single base substitution T A intron_variant BRCA-FR 19 36599859 36599859 single base substitution C G downstream_gene_variant BRCA-UK 19 36543680 36543680 single base substitution G A upstream_gene_variant BRCA-UK 19 36549087 36549087 single base substitution C G intron_variant BRCA-UK 19 36557020 36557020 single base substitution C T downstream_gene_variant BRCA-UK 19 36557020 36557020 single base substitution C T intron_variant BRCA-UK 19 36575270 36575270 single base substitution A T downstream_gene_variant BRCA-UK 19 36575270 36575270 single base substitution A T intron_variant BRCA-UK 19 36585834 36585834 single base substitution G A intron_variant BRCA-US 19 36558877 36558877 single base substitution G C exon_variant BRCA-US 19 36558877 36558877 single base substitution G C missense_variant E283Q 847G>C BRCA-US 19 36558877 36558877 single base substitution G C missense_variant E305Q 913G>C BRCA-US 19 36558877 36558877 single base substitution G C upstream_gene_variant BRCA-US 19 36574083 36574083 single base substitution T G 3_prime_UTR_variant BRCA-US 19 36574083 36574083 single base substitution T G downstream_gene_variant BRCA-US 19 36574083 36574083 single base substitution T G missense_variant V497G 1490T>G BRCA-US 19 36577707 36577707 single base substitution G A 3_prime_UTR_variant BRCA-US 19 36577707 36577707 single base substitution G A downstream_gene_variant BRCA-US 19 36577707 36577707 single base substitution G A synonymous_variant K587K 1761G>A BRCA-US 19 36584983 36584983 single base substitution G A 3_prime_UTR_variant BRCA-US 19 36584983 36584983 single base substitution G A missense_variant G795E 2384G>A BRCA-US 19 36584985 36584985 single base substitution G A 3_prime_UTR_variant BRCA-US 19 36584985 36584985 single base substitution G A missense_variant E796K 2386G>A BRCA-US 19 36584994 36584994 single base substitution G A 3_prime_UTR_variant BRCA-US 19 36584994 36584994 single base substitution G A missense_variant E799K 2395G>A BRCA-US 19 36590458 36590458 single base substitution G A 3_prime_UTR_variant BRCA-US 19 36590458 36590458 single base substitution G A missense_variant S893N 2678G>A BTCA-JP 19 36557269 36557269 single base substitution G A downstream_gene_variant BTCA-JP 19 36557269 36557269 single base substitution G A exon_variant BTCA-JP 19 36557269 36557269 single base substitution G A missense_variant M167I 501G>A BTCA-JP 19 36557269 36557269 single base substitution G A missense_variant M189I 567G>A BTCA-JP 19 36562390 36562390 single base substitution A G intron_variant BTCA-JP 19 36562390 36562390 single base substitution A G upstream_gene_variant BTCA-JP 19 36564439 36564439 deletion of <=200bp C - downstream_gene_variant BTCA-JP 19 36564439 36564439 deletion of <=200bp C - splice_region_variant BTCA-JP 19 36572776 36572776 single base substitution A C exon_variant BTCA-JP 19 36572776 36572776 single base substitution A C intron_variant BTCA-JP 19 36572776 36572776 single base substitution A C stop_lost *484Y 1452A>C BTCA-JP 19 36590262 36590262 single base substitution G A intron_variant BTCA-JP 19 36590322 36590322 single base substitution G A 3_prime_UTR_variant BTCA-JP 19 36590322 36590322 single base substitution G A missense_variant D848N 2542G>A BTCA-JP 19 36592134 36592134 single base substitution G A 3_prime_UTR_variant BTCA-JP 19 36592134 36592134 single base substitution G A synonymous_variant E962E 2886G>A BTCA-JP 19 36592736 36592736 single base substitution C T 3_prime_UTR_variant BTCA-JP 19 36592736 36592736 single base substitution C T intron_variant BTCA-JP 19 36594109 36594109 single base substitution C T missense_variant P1167S 3499C>T BTCA-JP 19 36594109 36594109 single base substitution C T missense_variant P1172S 3514C>T BTCA-JP 19 36594109 36594109 single base substitution C T splice_region_variant BTCA-JP 19 36595524 36595524 single base substitution A G 3_prime_UTR_variant BTCA-JP 19 36595524 36595524 single base substitution A G missense_variant I1415V 4243A>G BTCA-JP 19 36595524 36595524 single base substitution A G missense_variant I1420V 4258A>G CESC-US 19 36590358 36590358 single base substitution C G 3_prime_UTR_variant CESC-US 19 36590358 36590358 single base substitution C G missense_variant P860A 2578C>G CESC-US 19 36593869 36593869 single base substitution C T 3_prime_UTR_variant CESC-US 19 36593869 36593869 single base substitution C T missense_variant P1114S 3340C>T CESC-US 19 36593869 36593869 single base substitution C T missense_variant P1119S 3355C>T CESC-US 19 36594670 36594670 single base substitution G A 3_prime_UTR_variant CESC-US 19 36594670 36594670 single base substitution G A missense_variant D1309N 3925G>A CESC-US 19 36594670 36594670 single base substitution G A missense_variant D1314N 3940G>A CESC-US 19 36595563 36595563 single base substitution G C 3_prime_UTR_variant CESC-US 19 36595563 36595563 single base substitution G C missense_variant D1428H 4282G>C CESC-US 19 36595563 36595563 single base substitution G C missense_variant D1433H 4297G>C COAD-US 19 36579993 36579993 single base substitution C T 3_prime_UTR_variant COAD-US 19 36579993 36579993 single base substitution C T missense_variant R608C 1822C>T COAD-US 19 36580182 36580182 single base substitution C T 3_prime_UTR_variant COAD-US 19 36580182 36580182 single base substitution C T synonymous_variant A644A 1932C>T COAD-US 19 36590309 36590309 single base substitution C T 3_prime_UTR_variant COAD-US 19 36590309 36590309 single base substitution C T synonymous_variant D843D 2529C>T COAD-US 19 36590341 36590341 single base substitution C T 3_prime_UTR_variant COAD-US 19 36590341 36590341 single base substitution C T missense_variant A854V 2561C>T COAD-US 19 36592212 36592212 single base substitution G A 3_prime_UTR_variant COAD-US 19 36592212 36592212 single base substitution G A synonymous_variant P988P 2964G>A COAD-US 19 36592920 36592920 single base substitution C T 3_prime_UTR_variant COAD-US 19 36592920 36592920 single base substitution C T synonymous_variant C1029C 3087C>T COAD-US 19 36594064 36594064 single base substitution G T 3_prime_UTR_variant COAD-US 19 36594064 36594064 single base substitution G T missense_variant A1152S 3454G>T COAD-US 19 36594064 36594064 single base substitution G T missense_variant A1157S 3469G>T COAD-US 19 36594659 36594659 single base substitution A T 3_prime_UTR_variant COAD-US 19 36594659 36594659 single base substitution A T missense_variant Q1305L 3914A>T COAD-US 19 36594659 36594659 single base substitution A T missense_variant Q1310L 3929A>T COAD-US 19 36594853 36594853 single base substitution G A 3_prime_UTR_variant COAD-US 19 36594853 36594853 single base substitution G A missense_variant G1370S 4108G>A COAD-US 19 36594853 36594853 single base substitution G A missense_variant G1375S 4123G>A COAD-US 19 36595488 36595488 single base substitution C T 3_prime_UTR_variant COAD-US 19 36595488 36595488 single base substitution C T missense_variant P1403S 4207C>T COAD-US 19 36595488 36595488 single base substitution C T missense_variant P1408S 4222C>T COAD-US 19 36595793 36595793 single base substitution G A 3_prime_UTR_variant COAD-US 19 36595793 36595793 single base substitution G A missense_variant A1474T 4420G>A COAD-US 19 36595793 36595793 single base substitution G A missense_variant A1479T 4435G>A COCA-CN 19 36558162 36558162 single base substitution A G downstream_gene_variant COCA-CN 19 36558162 36558162 single base substitution A G intron_variant COCA-CN 19 36558162 36558162 single base substitution A G upstream_gene_variant COCA-CN 19 36564269 36564269 single base substitution G A downstream_gene_variant COCA-CN 19 36564269 36564269 single base substitution G A exon_variant COCA-CN 19 36564269 36564269 single base substitution G A missense_variant A357T 1069G>A COCA-CN 19 36564442 36564442 single base substitution C T downstream_gene_variant COCA-CN 19 36564442 36564442 single base substitution C T intron_variant COCA-CN 19 36564449 36564449 single base substitution A C downstream_gene_variant COCA-CN 19 36564449 36564449 single base substitution A C intron_variant COCA-CN 19 36564486 36564486 single base substitution A C downstream_gene_variant COCA-CN 19 36564486 36564486 single base substitution A C intron_variant COCA-CN 19 36577710 36577710 single base substitution C T 3_prime_UTR_variant COCA-CN 19 36577710 36577710 single base substitution C T downstream_gene_variant COCA-CN 19 36577710 36577710 single base substitution C T synonymous_variant F588F 1764C>T COCA-CN 19 36583621 36583621 single base substitution G A 3_prime_UTR_variant COCA-CN 19 36583621 36583621 single base substitution G A synonymous_variant E747E 2241G>A COCA-CN 19 36592752 36592752 single base substitution G T 3_prime_UTR_variant COCA-CN 19 36592752 36592752 single base substitution G T intron_variant COCA-CN 19 36593560 36593560 single base substitution C T 3_prime_UTR_variant COCA-CN 19 36593560 36593560 single base substitution C T intron_variant COCA-CN 19 36594130 36594130 single base substitution C T intron_variant COCA-CN 19 36594153 36594153 single base substitution G A intron_variant COCA-CN 19 36594404 36594404 single base substitution G A 3_prime_UTR_variant COCA-CN 19 36594404 36594404 single base substitution G A missense_variant R1220H 3659G>A COCA-CN 19 36594404 36594404 single base substitution G A missense_variant R1225H 3674G>A COCA-CN 19 36595258 36595258 single base substitution G C intron_variant COCA-CN 19 36595376 36595376 single base substitution A G intron_variant ESAD-UK 19 36542028 36542028 single base substitution G A upstream_gene_variant ESAD-UK 19 36542396 36542396 single base substitution G T upstream_gene_variant ESAD-UK 19 36543441 36543441 deletion of <=200bp T - upstream_gene_variant ESAD-UK 19 36544182 36544182 single base substitution C A upstream_gene_variant ESAD-UK 19 36546352 36546352 single base substitution T C intron_variant ESAD-UK 19 36547850 36547850 single base substitution A T intron_variant ESAD-UK 19 36549623 36549623 single base substitution G T intron_variant ESAD-UK 19 36550364 36550365 deletion of <=200bp AG - intron_variant ESAD-UK 19 36552859 36552859 single base substitution T G exon_variant ESAD-UK 19 36552859 36552859 single base substitution T G intron_variant ESAD-UK 19 36554458 36554458 single base substitution T C downstream_gene_variant ESAD-UK 19 36554458 36554458 single base substitution T C intron_variant ESAD-UK 19 36561477 36561477 single base substitution C G intron_variant ESAD-UK 19 36561477 36561477 single base substitution C G upstream_gene_variant ESAD-UK 19 36562045 36562045 single base substitution G A intron_variant ESAD-UK 19 36562045 36562045 single base substitution G A upstream_gene_variant ESAD-UK 19 36562651 36562651 single base substitution G T downstream_gene_variant ESAD-UK 19 36562651 36562651 single base substitution G T intron_variant ESAD-UK 19 36565088 36565088 single base substitution T C downstream_gene_variant ESAD-UK 19 36565088 36565088 single base substitution T C exon_variant ESAD-UK 19 36565088 36565088 single base substitution T C intron_variant ESAD-UK 19 36566352 36566352 deletion of <=200bp T - downstream_gene_variant ESAD-UK 19 36566352 36566352 deletion of <=200bp T - intron_variant ESAD-UK 19 36567384 36567384 single base substitution C T downstream_gene_variant ESAD-UK 19 36567384 36567384 single base substitution C T intron_variant ESAD-UK 19 36567500 36567500 single base substitution T G downstream_gene_variant ESAD-UK 19 36567500 36567500 single base substitution T G intron_variant ESAD-UK 19 36567868 36567869 deletion of <=200bp TG - downstream_gene_variant ESAD-UK 19 36567868 36567869 deletion of <=200bp TG - intron_variant ESAD-UK 19 36570574 36570574 single base substitution C A downstream_gene_variant ESAD-UK 19 36570574 36570574 single base substitution C A intron_variant ESAD-UK 19 36571171 36571171 single base substitution G A downstream_gene_variant ESAD-UK 19 36571171 36571171 single base substitution G A intron_variant ESAD-UK 19 36573113 36573113 single base substitution C T downstream_gene_variant ESAD-UK 19 36573113 36573113 single base substitution C T intron_variant ESAD-UK 19 36574356 36574356 single base substitution C T downstream_gene_variant ESAD-UK 19 36574356 36574356 single base substitution C T intron_variant ESAD-UK 19 36577310 36577310 single base substitution G A downstream_gene_variant ESAD-UK 19 36577310 36577310 single base substitution G A intron_variant ESAD-UK 19 36581709 36581709 single base substitution T C intron_variant ESAD-UK 19 36581790 36581790 single base substitution G T intron_variant ESAD-UK 19 36583353 36583353 single base substitution C T intron_variant ESAD-UK 19 36584584 36584584 single base substitution A T intron_variant ESAD-UK 19 36584988 36584991 deletion of <=200bp CAAA - 3_prime_UTR_variant ESAD-UK 19 36584988 36584991 deletion of <=200bp CAAA - frameshift_variant QT797 ESAD-UK 19 36585184 36585184 single base substitution G A intron_variant ESAD-UK 19 36585645 36585645 single base substitution A T intron_variant ESAD-UK 19 36588623 36588623 insertion of <=200bp - A intron_variant ESAD-UK 19 36589642 36589642 single base substitution T C intron_variant ESAD-UK 19 36590368 36590368 single base substitution G A 3_prime_UTR_variant ESAD-UK 19 36590368 36590368 single base substitution G A missense_variant R863H 2588G>A ESAD-UK 19 36592093 36592093 single base substitution C G intron_variant ESAD-UK 19 36596453 36596453 single base substitution A T downstream_gene_variant ESAD-UK 19 36596471 36596471 single base substitution G A downstream_gene_variant ESAD-UK 19 36600142 36600142 single base substitution G A downstream_gene_variant ESCA-CN 19 36572564 36572564 single base substitution T C intron_variant ESCA-CN 19 36577699 36577699 single base substitution G A 3_prime_UTR_variant ESCA-CN 19 36577699 36577699 single base substitution G A downstream_gene_variant ESCA-CN 19 36577699 36577699 single base substitution G A missense_variant A585T 1753G>A ESCA-CN 19 36582270 36582270 single base substitution G A intron_variant ESCA-CN 19 36584961 36584961 single base substitution G C 3_prime_UTR_variant ESCA-CN 19 36584961 36584961 single base substitution G C missense_variant E788Q 2362G>C ESCA-CN 19 36590329 36590329 single base substitution T C 3_prime_UTR_variant ESCA-CN 19 36590329 36590329 single base substitution T C missense_variant L850S 2549T>C ESCA-CN 19 36592752 36592752 single base substitution G T 3_prime_UTR_variant ESCA-CN 19 36592752 36592752 single base substitution G T intron_variant ESCA-CN 19 36595731 36595731 single base substitution C A 3_prime_UTR_variant ESCA-CN 19 36595731 36595731 single base substitution C A missense_variant T1453N 4358C>A ESCA-CN 19 36595731 36595731 single base substitution C A missense_variant T1458N 4373C>A GBM-US 19 36583666 36583668 deletion of <=200bp GCA - 3_prime_UTR_variant GBM-US 19 36583666 36583668 deletion of <=200bp GCA - inframe_deletion RQ762R KIRC-US 19 36574074 36574074 single base substitution G A 3_prime_UTR_variant KIRC-US 19 36574074 36574074 single base substitution G A downstream_gene_variant KIRC-US 19 36574074 36574074 single base substitution G A missense_variant G494E 1481G>A KIRC-US 19 36575625 36575625 single base substitution G T 3_prime_UTR_variant KIRC-US 19 36575625 36575625 single base substitution G T downstream_gene_variant KIRC-US 19 36575625 36575625 single base substitution G T stop_gained E541* 1621G>T KIRC-US 19 36593730 36593730 deletion of <=200bp C - 3_prime_UTR_variant KIRC-US 19 36593730 36593730 deletion of <=200bp C - frameshift_variant L1099 KIRC-US 19 36593730 36593730 deletion of <=200bp C - frameshift_variant L1104 KIRC-US 19 36593732 36593733 deletion of <=200bp CA - 3_prime_UTR_variant KIRC-US 19 36593732 36593733 deletion of <=200bp CA - frameshift_variant S1100 KIRC-US 19 36593732 36593733 deletion of <=200bp CA - frameshift_variant S1105 KIRP-US 19 36582178 36582178 single base substitution C T 3_prime_UTR_variant KIRP-US 19 36582178 36582178 single base substitution C T missense_variant S704L 2111C>T LAML-KR 19 36554134 36554134 single base substitution A T downstream_gene_variant LAML-KR 19 36554134 36554134 single base substitution A T intron_variant LAML-KR 19 36564419 36564419 single base substitution G A downstream_gene_variant LAML-KR 19 36564419 36564419 single base substitution G A exon_variant LAML-KR 19 36564419 36564419 single base substitution G A missense_variant V407I 1219G>A LAML-KR 19 36566590 36566590 single base substitution T C downstream_gene_variant LAML-KR 19 36566590 36566590 single base substitution T C intron_variant LAML-KR 19 36571110 36571110 single base substitution C A downstream_gene_variant LAML-KR 19 36571110 36571110 single base substitution C A intron_variant LAML-KR 19 36572564 36572564 single base substitution T C intron_variant LAML-KR 19 36577742 36577742 single base substitution G A downstream_gene_variant LAML-KR 19 36577742 36577742 single base substitution G A intron_variant LAML-KR 19 36590329 36590329 single base substitution T C 3_prime_UTR_variant LAML-KR 19 36590329 36590329 single base substitution T C missense_variant L850S 2549T>C LGG-US 19 36572456 36572456 single base substitution A T exon_variant LGG-US 19 36572456 36572456 single base substitution A T missense_variant K452I 1355A>T LGG-US 19 36590446 36590446 insertion of <=200bp - GAAGCC 3_prime_UTR_variant LGG-US 19 36590446 36590446 insertion of <=200bp - GAAGCC disruptive_inframe_insertion M889RSL LICA-CN 19 36546008 36546008 single base substitution G C exon_variant LICA-CN 19 36546008 36546008 single base substitution G C synonymous_variant R39R 117G>C LICA-CN 19 36546008 36546008 single base substitution G C synonymous_variant R45R 135G>C LICA-CN 19 36557213 36557213 single base substitution G T downstream_gene_variant LICA-CN 19 36557213 36557213 single base substitution G T exon_variant LICA-CN 19 36557213 36557213 single base substitution G T missense_variant A149S 445G>T LICA-CN 19 36557213 36557213 single base substitution G T missense_variant A171S 511G>T LICA-FR 19 36559803 36559803 single base substitution A T intron_variant LICA-FR 19 36559803 36559803 single base substitution A T upstream_gene_variant LICA-FR 19 36569241 36569241 single base substitution G A downstream_gene_variant LICA-FR 19 36569241 36569241 single base substitution G A intron_variant LICA-FR 19 36583227 36583227 single base substitution G A intron_variant LINC-JP 19 36544094 36544094 single base substitution G A upstream_gene_variant LINC-JP 19 36549935 36549935 single base substitution C G intron_variant LINC-JP 19 36549935 36549935 single base substitution C G missense_variant S103C 308C>G LINC-JP 19 36553361 36553361 single base substitution G A exon_variant LINC-JP 19 36553361 36553361 single base substitution G A intron_variant LINC-JP 19 36554337 36554337 single base substitution T C downstream_gene_variant LINC-JP 19 36554337 36554337 single base substitution T C intron_variant LINC-JP 19 36561812 36561812 single base substitution A G intron_variant LINC-JP 19 36561812 36561812 single base substitution A G upstream_gene_variant LINC-JP 19 36572280 36572280 insertion of <=200bp - TCATTTTC intron_variant LINC-JP 19 36572521 36572521 single base substitution C A intron_variant LINC-JP 19 36573256 36573256 single base substitution G A downstream_gene_variant LINC-JP 19 36573256 36573256 single base substitution G A intron_variant LINC-JP 19 36574133 36574133 single base substitution G T 3_prime_UTR_variant LINC-JP 19 36574133 36574133 single base substitution G T downstream_gene_variant LINC-JP 19 36574133 36574133 single base substitution G T stop_gained G514* 1540G>T LINC-JP 19 36574134 36574134 single base substitution G T 3_prime_UTR_variant LINC-JP 19 36574134 36574134 single base substitution G T downstream_gene_variant LINC-JP 19 36574134 36574134 single base substitution G T missense_variant G514V 1541G>T LINC-JP 19 36577618 36577627 deletion of <=200bp GACCGGCTGA - 3_prime_UTR_variant LINC-JP 19 36577618 36577627 deletion of <=200bp GACCGGCTGA - downstream_gene_variant LINC-JP 19 36577618 36577627 deletion of <=200bp GACCGGCTGA - frameshift_variant DRLI558 LINC-JP 19 36577631 36577631 deletion of <=200bp A - 3_prime_UTR_variant LINC-JP 19 36577631 36577631 deletion of <=200bp A - downstream_gene_variant LINC-JP 19 36577631 36577631 deletion of <=200bp A - frameshift_variant H562 LINC-JP 19 36581334 36581334 single base substitution C T intron_variant LINC-JP 19 36590147 36590147 single base substitution C A intron_variant LINC-JP 19 36591884 36591884 single base substitution G T intron_variant LINC-JP 19 36592099 36592099 single base substitution C T intron_variant LINC-JP 19 36593132 36593132 single base substitution C T 3_prime_UTR_variant LINC-JP 19 36593132 36593132 single base substitution C T intron_variant LINC-JP 19 36593566 36593566 single base substitution G A 3_prime_UTR_variant LINC-JP 19 36593566 36593566 single base substitution G A intron_variant LIRI-JP 19 36544349 36544349 single base substitution T G upstream_gene_variant LIRI-JP 19 36546939 36546939 single base substitution C T intron_variant LIRI-JP 19 36548994 36548994 single base substitution C T intron_variant LIRI-JP 19 36549534 36549534 single base substitution A G intron_variant LIRI-JP 19 36556239 36556239 single base substitution G C downstream_gene_variant LIRI-JP 19 36556239 36556239 single base substitution G C intron_variant LIRI-JP 19 36558525 36558525 single base substitution A G downstream_gene_variant LIRI-JP 19 36558525 36558525 single base substitution A G intron_variant LIRI-JP 19 36558525 36558525 single base substitution A G upstream_gene_variant LIRI-JP 19 36561303 36561303 single base substitution C T intron_variant LIRI-JP 19 36561303 36561303 single base substitution C T upstream_gene_variant LIRI-JP 19 36561685 36561685 single base substitution C A intron_variant LIRI-JP 19 36561685 36561685 single base substitution C A upstream_gene_variant LIRI-JP 19 36563496 36563496 single base substitution G T downstream_gene_variant LIRI-JP 19 36563496 36563496 single base substitution G T intron_variant LIRI-JP 19 36563497 36563497 single base substitution G T downstream_gene_variant LIRI-JP 19 36563497 36563497 single base substitution G T intron_variant LIRI-JP 19 36567130 36567130 single base substitution C T downstream_gene_variant LIRI-JP 19 36567130 36567130 single base substitution C T intron_variant LIRI-JP 19 36567977 36567977 single base substitution G C downstream_gene_variant LIRI-JP 19 36567977 36567977 single base substitution G C intron_variant LIRI-JP 19 36569110 36569110 single base substitution T C downstream_gene_variant LIRI-JP 19 36569110 36569110 single base substitution T C intron_variant LIRI-JP 19 36569959 36569961 deletion of <=200bp TTC - downstream_gene_variant LIRI-JP 19 36569959 36569961 deletion of <=200bp TTC - intron_variant LIRI-JP 19 36571296 36571296 single base substitution G T downstream_gene_variant LIRI-JP 19 36571296 36571296 single base substitution G T intron_variant LIRI-JP 19 36572105 36572105 single base substitution C T intron_variant LIRI-JP 19 36573401 36573401 single base substitution G A downstream_gene_variant LIRI-JP 19 36573401 36573401 single base substitution G A intron_variant LIRI-JP 19 36573660 36573660 single base substitution G A downstream_gene_variant LIRI-JP 19 36573660 36573660 single base substitution G A intron_variant LIRI-JP 19 36573765 36573765 single base substitution A G downstream_gene_variant LIRI-JP 19 36573765 36573765 single base substitution A G intron_variant LIRI-JP 19 36574830 36574830 single base substitution A T downstream_gene_variant LIRI-JP 19 36574830 36574830 single base substitution A T intron_variant LIRI-JP 19 36575491 36575491 single base substitution C G downstream_gene_variant LIRI-JP 19 36575491 36575491 single base substitution C G intron_variant LIRI-JP 19 36576634 36576634 single base substitution C T downstream_gene_variant LIRI-JP 19 36576634 36576634 single base substitution C T intron_variant LIRI-JP 19 36578764 36578764 single base substitution A T intron_variant LIRI-JP 19 36582178 36582178 single base substitution C T 3_prime_UTR_variant LIRI-JP 19 36582178 36582178 single base substitution C T missense_variant S704L 2111C>T LIRI-JP 19 36584431 36584431 single base substitution A G intron_variant LIRI-JP 19 36584839 36584839 single base substitution A G intron_variant LIRI-JP 19 36588299 36588299 single base substitution G A intron_variant LIRI-JP 19 36590021 36590021 single base substitution G A intron_variant LIRI-JP 19 36591471 36591471 single base substitution C T intron_variant LIRI-JP 19 36593575 36593575 single base substitution T A 3_prime_UTR_variant LIRI-JP 19 36593575 36593575 single base substitution T A intron_variant LIRI-JP 19 36598504 36598508 deletion of <=200bp CTCAT - downstream_gene_variant LIRI-JP 19 36598755 36598755 single base substitution C G downstream_gene_variant LIRI-JP 19 36598912 36598912 single base substitution C T downstream_gene_variant LIRI-JP 19 36600217 36600217 deletion of <=200bp C - downstream_gene_variant LUSC-KR 19 36544212 36544212 single base substitution T C upstream_gene_variant LUSC-KR 19 36547178 36547178 single base substitution G A intron_variant LUSC-KR 19 36548799 36548799 single base substitution C A intron_variant LUSC-KR 19 36550101 36550101 single base substitution T C intron_variant LUSC-KR 19 36557359 36557359 single base substitution G A downstream_gene_variant LUSC-KR 19 36557359 36557359 single base substitution G A intron_variant LUSC-KR 19 36563503 36563503 single base substitution A T downstream_gene_variant LUSC-KR 19 36563503 36563503 single base substitution A T intron_variant LUSC-KR 19 36571548 36571548 single base substitution C T intron_variant LUSC-KR 19 36572804 36572804 single base substitution C A 3_prime_UTR_variant LUSC-KR 19 36572804 36572804 single base substitution C A downstream_gene_variant LUSC-KR 19 36572804 36572804 single base substitution C A intron_variant LUSC-KR 19 36575234 36575234 single base substitution C T downstream_gene_variant LUSC-KR 19 36575234 36575234 single base substitution C T intron_variant LUSC-KR 19 36576547 36576547 single base substitution G T downstream_gene_variant LUSC-KR 19 36576547 36576547 single base substitution G T intron_variant LUSC-KR 19 36578171 36578171 single base substitution G A intron_variant LUSC-KR 19 36585397 36585397 single base substitution A T intron_variant LUSC-KR 19 36587464 36587464 single base substitution T A intron_variant LUSC-KR 19 36588086 36588086 single base substitution G T intron_variant LUSC-KR 19 36588937 36588937 single base substitution C T intron_variant LUSC-KR 19 36591896 36591896 single base substitution C A intron_variant LUSC-US 19 36546012 36546012 single base substitution C T exon_variant LUSC-US 19 36546012 36546012 single base substitution C T stop_gained R41* 121C>T LUSC-US 19 36546012 36546012 single base substitution C T stop_gained R47* 139C>T LUSC-US 19 36549714 36549714 single base substitution C A exon_variant LUSC-US 19 36549714 36549714 single base substitution C A synonymous_variant A64A 192C>A LUSC-US 19 36549714 36549714 single base substitution C A synonymous_variant A70A 210C>A LUSC-US 19 36549728 36549728 single base substitution G T exon_variant LUSC-US 19 36549728 36549728 single base substitution G T missense_variant G69V 206G>T LUSC-US 19 36549728 36549728 single base substitution G T missense_variant G75V 224G>T LUSC-US 19 36557157 36557157 single base substitution A G downstream_gene_variant LUSC-US 19 36557157 36557157 single base substitution A G splice_acceptor_variant LUSC-US 19 36594257 36594257 single base substitution C T 3_prime_UTR_variant LUSC-US 19 36594257 36594257 single base substitution C T missense_variant T1171M 3512C>T LUSC-US 19 36594257 36594257 single base substitution C T missense_variant T1176M 3527C>T MALY-DE 19 36544562 36544562 single base substitution G C upstream_gene_variant MALY-DE 19 36546456 36546456 single base substitution T C intron_variant MALY-DE 19 36549456 36549456 single base substitution C T intron_variant MALY-DE 19 36550803 36550803 single base substitution G A intron_variant MALY-DE 19 36564328 36564328 single base substitution C T downstream_gene_variant MALY-DE 19 36564328 36564328 single base substitution C T exon_variant MALY-DE 19 36564328 36564328 single base substitution C T synonymous_variant C376C 1128C>T MALY-DE 19 36566921 36566921 single base substitution A T downstream_gene_variant MALY-DE 19 36566921 36566921 single base substitution A T intron_variant MALY-DE 19 36571356 36571356 single base substitution T C intron_variant MALY-DE 19 36575133 36575133 single base substitution T G downstream_gene_variant MALY-DE 19 36575133 36575133 single base substitution T G intron_variant MALY-DE 19 36588706 36588706 single base substitution G C intron_variant MALY-DE 19 36595885 36595885 single base substitution G A 3_prime_UTR_variant MALY-DE 19 36595885 36595885 single base substitution G A synonymous_variant S1504S 4512G>A MALY-DE 19 36595885 36595885 single base substitution G A synonymous_variant S1509S 4527G>A MALY-DE 19 36600194 36600194 single base substitution G A downstream_gene_variant MELA-AU 19 36540837 36540837 single base substitution T A upstream_gene_variant MELA-AU 19 36543887 36543887 single base substitution G A upstream_gene_variant MELA-AU 19 36544687 36544687 single base substitution C T upstream_gene_variant MELA-AU 19 36545233 36545233 single base substitution T C upstream_gene_variant MELA-AU 19 36546512 36546512 single base substitution C T intron_variant MELA-AU 19 36546791 36546791 single base substitution T A intron_variant MELA-AU 19 36547611 36547611 single base substitution A T intron_variant MELA-AU 19 36547613 36547613 single base substitution G T intron_variant MELA-AU 19 36547819 36547819 single base substitution C T intron_variant MELA-AU 19 36548398 36548398 single base substitution C T intron_variant MELA-AU 19 36548461 36548461 single base substitution G A intron_variant MELA-AU 19 36548700 36548700 single base substitution G A intron_variant MELA-AU 19 36549301 36549301 single base substitution C T intron_variant MELA-AU 19 36549325 36549325 single base substitution C T intron_variant MELA-AU 19 36550228 36550228 single base substitution G A intron_variant MELA-AU 19 36550615 36550615 single base substitution G A intron_variant MELA-AU 19 36550892 36550892 single base substitution C T exon_variant MELA-AU 19 36550892 36550892 single base substitution C T missense_variant P120S 358C>T MELA-AU 19 36550892 36550892 single base substitution C T missense_variant P98S 292C>T MELA-AU 19 36551788 36551788 single base substitution A T exon_variant MELA-AU 19 36551788 36551788 single base substitution A T intron_variant MELA-AU 19 36552435 36552435 single base substitution C T exon_variant MELA-AU 19 36552435 36552435 single base substitution C T intron_variant MELA-AU 19 36552722 36552722 single base substitution G A exon_variant MELA-AU 19 36552722 36552722 single base substitution G A intron_variant MELA-AU 19 36552968 36552968 single base substitution C T exon_variant MELA-AU 19 36552968 36552968 single base substitution C T intron_variant MELA-AU 19 36553097 36553097 single base substitution C T exon_variant MELA-AU 19 36553097 36553097 single base substitution C T intron_variant MELA-AU 19 36553609 36553609 single base substitution C T downstream_gene_variant MELA-AU 19 36553609 36553609 single base substitution C T intron_variant MELA-AU 19 36553612 36553612 single base substitution A G downstream_gene_variant MELA-AU 19 36553612 36553612 single base substitution A G intron_variant MELA-AU 19 36554186 36554186 single base substitution C T downstream_gene_variant MELA-AU 19 36554186 36554186 single base substitution C T intron_variant MELA-AU 19 36554411 36554411 single base substitution C T downstream_gene_variant MELA-AU 19 36554411 36554411 single base substitution C T intron_variant MELA-AU 19 36554909 36554909 single base substitution C T downstream_gene_variant MELA-AU 19 36554909 36554909 single base substitution C T intron_variant MELA-AU 19 36555742 36555742 single base substitution A T downstream_gene_variant MELA-AU 19 36555742 36555742 single base substitution A T intron_variant MELA-AU 19 36556151 36556151 single base substitution T G downstream_gene_variant MELA-AU 19 36556151 36556151 single base substitution T G intron_variant MELA-AU 19 36556622 36556622 single base substitution C T downstream_gene_variant MELA-AU 19 36556622 36556622 single base substitution C T intron_variant MELA-AU 19 36556859 36556859 single base substitution G A downstream_gene_variant MELA-AU 19 36556859 36556859 single base substitution G A splice_acceptor_variant MELA-AU 19 36556975 36556975 single base substitution C T downstream_gene_variant MELA-AU 19 36556975 36556975 single base substitution C T intron_variant MELA-AU 19 36557104 36557104 single base substitution C T downstream_gene_variant MELA-AU 19 36557104 36557104 single base substitution C T intron_variant MELA-AU 19 36557706 36557706 single base substitution C T downstream_gene_variant MELA-AU 19 36557706 36557706 single base substitution C T intron_variant MELA-AU 19 36557706 36557706 single base substitution C T upstream_gene_variant MELA-AU 19 36557729 36557729 single base substitution C T downstream_gene_variant MELA-AU 19 36557729 36557729 single base substitution C T intron_variant MELA-AU 19 36557729 36557729 single base substitution C T upstream_gene_variant MELA-AU 19 36557759 36557759 single base substitution C T downstream_gene_variant MELA-AU 19 36557759 36557759 single base substitution C T intron_variant MELA-AU 19 36557759 36557759 single base substitution C T upstream_gene_variant MELA-AU 19 36557760 36557760 single base substitution C T downstream_gene_variant MELA-AU 19 36557760 36557760 single base substitution C T intron_variant MELA-AU 19 36557760 36557760 single base substitution C T upstream_gene_variant MELA-AU 19 36557994 36557994 single base substitution C T downstream_gene_variant MELA-AU 19 36557994 36557994 single base substitution C T intron_variant MELA-AU 19 36557994 36557994 single base substitution C T upstream_gene_variant MELA-AU 19 36558032 36558033 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 36558032 36558033 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 36558032 36558033 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 36558261 36558261 single base substitution C T downstream_gene_variant MELA-AU 19 36558261 36558261 single base substitution C T exon_variant MELA-AU 19 36558261 36558261 single base substitution C T synonymous_variant S205S 615C>T MELA-AU 19 36558261 36558261 single base substitution C T synonymous_variant S227S 681C>T MELA-AU 19 36558261 36558261 single base substitution C T upstream_gene_variant MELA-AU 19 36558358 36558358 single base substitution C T downstream_gene_variant MELA-AU 19 36558358 36558358 single base substitution C T intron_variant MELA-AU 19 36558358 36558358 single base substitution C T upstream_gene_variant MELA-AU 19 36558446 36558446 single base substitution C T downstream_gene_variant MELA-AU 19 36558446 36558446 single base substitution C T intron_variant MELA-AU 19 36558446 36558446 single base substitution C T upstream_gene_variant MELA-AU 19 36558536 36558536 single base substitution C T downstream_gene_variant MELA-AU 19 36558536 36558536 single base substitution C T intron_variant MELA-AU 19 36558536 36558536 single base substitution C T upstream_gene_variant MELA-AU 19 36558795 36558795 single base substitution C T exon_variant MELA-AU 19 36558795 36558795 single base substitution C T synonymous_variant F255F 765C>T MELA-AU 19 36558795 36558795 single base substitution C T synonymous_variant F277F 831C>T MELA-AU 19 36558795 36558795 single base substitution C T upstream_gene_variant MELA-AU 19 36559832 36559833 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 36559832 36559833 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 36560030 36560030 single base substitution C T intron_variant MELA-AU 19 36560030 36560030 single base substitution C T upstream_gene_variant MELA-AU 19 36560122 36560122 single base substitution C T intron_variant MELA-AU 19 36560122 36560122 single base substitution C T upstream_gene_variant MELA-AU 19 36560625 36560625 single base substitution C T intron_variant MELA-AU 19 36560625 36560625 single base substitution C T upstream_gene_variant MELA-AU 19 36561582 36561582 single base substitution A G intron_variant MELA-AU 19 36561582 36561582 single base substitution A G upstream_gene_variant MELA-AU 19 36562119 36562119 single base substitution A G intron_variant MELA-AU 19 36562119 36562119 single base substitution A G upstream_gene_variant MELA-AU 19 36562451 36562452 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 36562451 36562452 multiple base substitution (>=2bp and <=200bp) CC TT splice_region_variant MELA-AU 19 36562451 36562452 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 36562478 36562478 single base substitution C T downstream_gene_variant MELA-AU 19 36562478 36562478 single base substitution C T exon_variant MELA-AU 19 36562478 36562478 single base substitution C T synonymous_variant L301L 903C>T MELA-AU 19 36562478 36562478 single base substitution C T upstream_gene_variant MELA-AU 19 36562690 36562690 single base substitution C T downstream_gene_variant MELA-AU 19 36562690 36562690 single base substitution C T intron_variant MELA-AU 19 36562808 36562808 single base substitution C T downstream_gene_variant MELA-AU 19 36562808 36562808 single base substitution C T intron_variant MELA-AU 19 36563225 36563225 single base substitution T C downstream_gene_variant MELA-AU 19 36563225 36563225 single base substitution T C intron_variant MELA-AU 19 36563404 36563404 single base substitution G C downstream_gene_variant MELA-AU 19 36563404 36563404 single base substitution G C intron_variant MELA-AU 19 36563591 36563592 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 36563591 36563592 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 36563866 36563866 single base substitution A T downstream_gene_variant MELA-AU 19 36563866 36563866 single base substitution A T intron_variant MELA-AU 19 36563916 36563916 single base substitution G A downstream_gene_variant MELA-AU 19 36563916 36563916 single base substitution G A intron_variant MELA-AU 19 36564587 36564587 single base substitution C T downstream_gene_variant MELA-AU 19 36564587 36564587 single base substitution C T exon_variant MELA-AU 19 36564587 36564587 single base substitution C T intron_variant MELA-AU 19 36565097 36565097 single base substitution G C downstream_gene_variant MELA-AU 19 36565097 36565097 single base substitution G C exon_variant MELA-AU 19 36565097 36565097 single base substitution G C intron_variant MELA-AU 19 36565169 36565169 single base substitution C T downstream_gene_variant MELA-AU 19 36565169 36565169 single base substitution C T exon_variant MELA-AU 19 36565169 36565169 single base substitution C T intron_variant MELA-AU 19 36565529 36565529 single base substitution C T downstream_gene_variant MELA-AU 19 36565529 36565529 single base substitution C T intron_variant MELA-AU 19 36565755 36565755 single base substitution C T downstream_gene_variant MELA-AU 19 36565755 36565755 single base substitution C T intron_variant MELA-AU 19 36566054 36566054 single base substitution G A downstream_gene_variant MELA-AU 19 36566054 36566054 single base substitution G A exon_variant MELA-AU 19 36566054 36566054 single base substitution G A intron_variant MELA-AU 19 36566612 36566612 single base substitution T G downstream_gene_variant MELA-AU 19 36566612 36566612 single base substitution T G intron_variant MELA-AU 19 36566673 36566673 single base substitution C T downstream_gene_variant MELA-AU 19 36566673 36566673 single base substitution C T intron_variant MELA-AU 19 36567811 36567811 single base substitution C T downstream_gene_variant MELA-AU 19 36567811 36567811 single base substitution C T intron_variant MELA-AU 19 36568165 36568165 single base substitution C T downstream_gene_variant MELA-AU 19 36568165 36568165 single base substitution C T intron_variant MELA-AU 19 36568529 36568529 single base substitution C T downstream_gene_variant MELA-AU 19 36568529 36568529 single base substitution C T intron_variant MELA-AU 19 36569144 36569144 single base substitution G C downstream_gene_variant MELA-AU 19 36569144 36569144 single base substitution G C intron_variant MELA-AU 19 36569417 36569417 single base substitution C T downstream_gene_variant MELA-AU 19 36569417 36569417 single base substitution C T intron_variant MELA-AU 19 36569626 36569626 insertion of <=200bp - TACT downstream_gene_variant MELA-AU 19 36569626 36569626 insertion of <=200bp - TACT intron_variant MELA-AU 19 36569789 36569789 single base substitution A C downstream_gene_variant MELA-AU 19 36569789 36569789 single base substitution A C intron_variant MELA-AU 19 36570825 36570825 single base substitution G A downstream_gene_variant MELA-AU 19 36570825 36570825 single base substitution G A intron_variant MELA-AU 19 36571399 36571399 single base substitution G A intron_variant MELA-AU 19 36571451 36571451 single base substitution C T intron_variant MELA-AU 19 36571496 36571496 single base substitution G A intron_variant MELA-AU 19 36571937 36571937 single base substitution C T intron_variant MELA-AU 19 36572308 36572308 single base substitution C T intron_variant MELA-AU 19 36573629 36573629 single base substitution C T downstream_gene_variant MELA-AU 19 36573629 36573629 single base substitution C T intron_variant MELA-AU 19 36573976 36573976 single base substitution G A 3_prime_UTR_variant MELA-AU 19 36573976 36573976 single base substitution G A downstream_gene_variant MELA-AU 19 36573976 36573976 single base substitution G A synonymous_variant K461K 1383G>A MELA-AU 19 36575472 36575472 single base substitution C T downstream_gene_variant MELA-AU 19 36575472 36575472 single base substitution C T intron_variant MELA-AU 19 36575559 36575559 single base substitution C T 3_prime_UTR_variant MELA-AU 19 36575559 36575559 single base substitution C T downstream_gene_variant MELA-AU 19 36575559 36575559 single base substitution C T missense_variant H519Y 1555C>T MELA-AU 19 36575670 36575670 single base substitution T C downstream_gene_variant MELA-AU 19 36575670 36575670 single base substitution T C intron_variant MELA-AU 19 36576003 36576003 single base substitution C T downstream_gene_variant MELA-AU 19 36576003 36576003 single base substitution C T intron_variant MELA-AU 19 36576022 36576022 single base substitution C T downstream_gene_variant MELA-AU 19 36576022 36576022 single base substitution C T intron_variant MELA-AU 19 36576232 36576232 single base substitution G A downstream_gene_variant MELA-AU 19 36576232 36576232 single base substitution G A intron_variant MELA-AU 19 36576625 36576625 single base substitution C T downstream_gene_variant MELA-AU 19 36576625 36576625 single base substitution C T intron_variant MELA-AU 19 36576682 36576682 single base substitution C T downstream_gene_variant MELA-AU 19 36576682 36576682 single base substitution C T intron_variant MELA-AU 19 36577262 36577262 single base substitution T C downstream_gene_variant MELA-AU 19 36577262 36577262 single base substitution T C intron_variant MELA-AU 19 36577710 36577710 single base substitution C T 3_prime_UTR_variant MELA-AU 19 36577710 36577710 single base substitution C T downstream_gene_variant MELA-AU 19 36577710 36577710 single base substitution C T synonymous_variant F588F 1764C>T MELA-AU 19 36577717 36577717 single base substitution G T downstream_gene_variant MELA-AU 19 36577717 36577717 single base substitution G T splice_region_variant MELA-AU 19 36578715 36578716 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 36578973 36578973 single base substitution C T intron_variant MELA-AU 19 36579678 36579678 single base substitution C T intron_variant MELA-AU 19 36579860 36579860 single base substitution C T intron_variant MELA-AU 19 36580494 36580494 single base substitution C T intron_variant MELA-AU 19 36580587 36580587 deletion of <=200bp T - intron_variant MELA-AU 19 36581314 36581314 single base substitution C T intron_variant MELA-AU 19 36581413 36581413 single base substitution C T 3_prime_UTR_variant MELA-AU 19 36581413 36581413 single base substitution C T synonymous_variant S675S 2025C>T MELA-AU 19 36581603 36581603 single base substitution C T intron_variant MELA-AU 19 36581715 36581715 single base substitution C T intron_variant MELA-AU 19 36582578 36582578 single base substitution C T intron_variant MELA-AU 19 36582936 36582936 single base substitution G A intron_variant MELA-AU 19 36583303 36583303 single base substitution C T intron_variant MELA-AU 19 36583382 36583382 single base substitution C T intron_variant MELA-AU 19 36583980 36583980 single base substitution C T intron_variant MELA-AU 19 36584340 36584340 single base substitution T C intron_variant MELA-AU 19 36584600 36584600 single base substitution C T intron_variant MELA-AU 19 36585051 36585051 single base substitution G A 3_prime_UTR_variant MELA-AU 19 36585051 36585051 single base substitution G A missense_variant D818N 2452G>A MELA-AU 19 36585784 36585784 single base substitution T G intron_variant MELA-AU 19 36585866 36585866 single base substitution C T intron_variant MELA-AU 19 36586089 36586090 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 36586214 36586214 single base substitution G A intron_variant MELA-AU 19 36586299 36586299 single base substitution C T intron_variant MELA-AU 19 36586689 36586689 single base substitution C T intron_variant MELA-AU 19 36586846 36586846 single base substitution C T intron_variant MELA-AU 19 36587083 36587083 single base substitution C T intron_variant MELA-AU 19 36587086 36587087 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 36587102 36587102 single base substitution C T intron_variant MELA-AU 19 36587477 36587477 single base substitution G A intron_variant MELA-AU 19 36588209 36588209 single base substitution C T intron_variant MELA-AU 19 36588556 36588556 single base substitution C G intron_variant MELA-AU 19 36588705 36588705 single base substitution G A intron_variant MELA-AU 19 36588975 36588975 single base substitution C T intron_variant MELA-AU 19 36589218 36589218 single base substitution C T intron_variant MELA-AU 19 36589539 36589540 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 19 36589540 36589540 single base substitution G A intron_variant MELA-AU 19 36590399 36590399 single base substitution C T 3_prime_UTR_variant MELA-AU 19 36590399 36590399 single base substitution C T synonymous_variant L873L 2619C>T MELA-AU 19 36590597 36590597 single base substitution C T intron_variant MELA-AU 19 36590893 36590893 single base substitution C T intron_variant MELA-AU 19 36592093 36592093 single base substitution C T intron_variant MELA-AU 19 36592210 36592210 single base substitution C T 3_prime_UTR_variant MELA-AU 19 36592210 36592210 single base substitution C T missense_variant P988S 2962C>T MELA-AU 19 36592667 36592667 single base substitution C T 3_prime_UTR_variant MELA-AU 19 36592667 36592667 single base substitution C T missense_variant H1025Y 3073C>T MELA-AU 19 36593125 36593125 single base substitution G A 3_prime_UTR_variant MELA-AU 19 36593125 36593125 single base substitution G A intron_variant MELA-AU 19 36593625 36593626 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 19 36593625 36593626 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 36593827 36593827 single base substitution C T intron_variant MELA-AU 19 36594306 36594306 single base substitution G A 3_prime_UTR_variant MELA-AU 19 36594306 36594306 single base substitution G A synonymous_variant R1187R 3561G>A MELA-AU 19 36594306 36594306 single base substitution G A synonymous_variant R1192R 3576G>A MELA-AU 19 36594836 36594837 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 19 36594836 36594837 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant R1364Q 4091GG>AA MELA-AU 19 36594836 36594837 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant R1369Q 4106GG>AA MELA-AU 19 36595562 36595562 single base substitution C T 3_prime_UTR_variant MELA-AU 19 36595562 36595562 single base substitution C T synonymous_variant L1427L 4281C>T MELA-AU 19 36595562 36595562 single base substitution C T synonymous_variant L1432L 4296C>T MELA-AU 19 36596189 36596189 single base substitution C A downstream_gene_variant MELA-AU 19 36596686 36596686 single base substitution C T downstream_gene_variant MELA-AU 19 36597019 36597019 single base substitution C T downstream_gene_variant MELA-AU 19 36597330 36597330 single base substitution C G downstream_gene_variant MELA-AU 19 36597914 36597914 single base substitution G A downstream_gene_variant MELA-AU 19 36599077 36599077 single base substitution C T downstream_gene_variant MELA-AU 19 36600358 36600358 single base substitution A G downstream_gene_variant MELA-AU 19 36600494 36600494 single base substitution G A downstream_gene_variant MELA-AU 19 36600568 36600568 single base substitution G A downstream_gene_variant ORCA-IN 19 36549691 36549691 single base substitution G A exon_variant ORCA-IN 19 36549691 36549691 single base substitution G A missense_variant E57K 169G>A ORCA-IN 19 36549691 36549691 single base substitution G A missense_variant E63K 187G>A ORCA-IN 19 36555041 36555041 single base substitution C T downstream_gene_variant ORCA-IN 19 36555041 36555041 single base substitution C T intron_variant ORCA-IN 19 36564876 36564876 single base substitution G A downstream_gene_variant ORCA-IN 19 36564876 36564876 single base substitution G A exon_variant ORCA-IN 19 36564876 36564876 single base substitution G A intron_variant ORCA-IN 19 36574114 36574114 single base substitution G A 3_prime_UTR_variant ORCA-IN 19 36574114 36574114 single base substitution G A downstream_gene_variant ORCA-IN 19 36574114 36574114 single base substitution G A synonymous_variant L507L 1521G>A ORCA-IN 19 36580199 36580199 single base substitution G T 3_prime_UTR_variant ORCA-IN 19 36580199 36580199 single base substitution G T missense_variant R650L 1949G>T ORCA-IN 19 36594297 36594297 single base substitution C T 3_prime_UTR_variant ORCA-IN 19 36594297 36594297 single base substitution C T synonymous_variant P1184P 3552C>T ORCA-IN 19 36594297 36594297 single base substitution C T synonymous_variant P1189P 3567C>T ORCA-IN 19 36594625 36594625 single base substitution C T 3_prime_UTR_variant ORCA-IN 19 36594625 36594625 single base substitution C T synonymous_variant L1294L 3880C>T ORCA-IN 19 36594625 36594625 single base substitution C T synonymous_variant L1299L 3895C>T ORCA-IN 19 36595884 36595884 single base substitution C A 3_prime_UTR_variant ORCA-IN 19 36595884 36595884 single base substitution C A stop_gained S1504* 4511C>A ORCA-IN 19 36595884 36595884 single base substitution C A stop_gained S1509* 4526C>A OV-AU 19 36544015 36544015 single base substitution G T upstream_gene_variant OV-AU 19 36558780 36558780 single base substitution G A exon_variant OV-AU 19 36558780 36558780 single base substitution G A synonymous_variant L250L 750G>A OV-AU 19 36558780 36558780 single base substitution G A synonymous_variant L272L 816G>A OV-AU 19 36558780 36558780 single base substitution G A upstream_gene_variant OV-AU 19 36558947 36558947 single base substitution C T intron_variant OV-AU 19 36558947 36558947 single base substitution C T upstream_gene_variant OV-AU 19 36560352 36560352 single base substitution G A intron_variant OV-AU 19 36560352 36560352 single base substitution G A upstream_gene_variant OV-AU 19 36565871 36565871 single base substitution T C downstream_gene_variant OV-AU 19 36565871 36565871 single base substitution T C intron_variant OV-AU 19 36567287 36567287 single base substitution T G downstream_gene_variant OV-AU 19 36567287 36567287 single base substitution T G intron_variant OV-AU 19 36568633 36568633 single base substitution G T downstream_gene_variant OV-AU 19 36568633 36568633 single base substitution G T intron_variant OV-AU 19 36573576 36573576 single base substitution G A downstream_gene_variant OV-AU 19 36573576 36573576 single base substitution G A intron_variant OV-AU 19 36577676 36577676 single base substitution A G 3_prime_UTR_variant OV-AU 19 36577676 36577676 single base substitution A G downstream_gene_variant OV-AU 19 36577676 36577676 single base substitution A G missense_variant D577G 1730A>G OV-AU 19 36579202 36579202 single base substitution C G intron_variant OV-AU 19 36582773 36582773 single base substitution G C intron_variant OV-AU 19 36585536 36585536 single base substitution A T intron_variant OV-AU 19 36587321 36587321 single base substitution A C intron_variant OV-AU 19 36592388 36592388 single base substitution G C 3_prime_UTR_variant OV-AU 19 36592388 36592388 single base substitution G C intron_variant OV-AU 19 36600652 36600652 single base substitution C G downstream_gene_variant PACA-AU 19 36542893 36542893 single base substitution G A upstream_gene_variant PACA-AU 19 36542894 36542894 single base substitution C T upstream_gene_variant PACA-AU 19 36545336 36545336 single base substitution A G upstream_gene_variant PACA-AU 19 36552964 36552964 single base substitution T C exon_variant PACA-AU 19 36552964 36552964 single base substitution T C intron_variant PACA-AU 19 36554064 36554064 single base substitution C G downstream_gene_variant PACA-AU 19 36554064 36554064 single base substitution C G intron_variant PACA-AU 19 36559821 36559821 single base substitution C G intron_variant PACA-AU 19 36559821 36559821 single base substitution C G upstream_gene_variant PACA-AU 19 36559841 36559841 single base substitution G A intron_variant PACA-AU 19 36559841 36559841 single base substitution G A upstream_gene_variant PACA-AU 19 36561530 36561530 single base substitution T C intron_variant PACA-AU 19 36561530 36561530 single base substitution T C upstream_gene_variant PACA-AU 19 36568189 36568189 single base substitution T G downstream_gene_variant PACA-AU 19 36568189 36568189 single base substitution T G intron_variant PACA-AU 19 36571518 36571518 single base substitution G A intron_variant PACA-AU 19 36574261 36574261 single base substitution G T downstream_gene_variant PACA-AU 19 36574261 36574261 single base substitution G T intron_variant PACA-AU 19 36575254 36575254 single base substitution C T downstream_gene_variant PACA-AU 19 36575254 36575254 single base substitution C T intron_variant PACA-AU 19 36575382 36575382 single base substitution C T downstream_gene_variant PACA-AU 19 36575382 36575382 single base substitution C T intron_variant PACA-AU 19 36596506 36596506 single base substitution C T downstream_gene_variant PACA-AU 19 36597071 36597071 single base substitution G C downstream_gene_variant PACA-CA 19 36544151 36544151 single base substitution G A upstream_gene_variant PACA-CA 19 36545979 36545979 single base substitution C T exon_variant PACA-CA 19 36545979 36545979 single base substitution C T missense_variant P30S 88C>T PACA-CA 19 36545979 36545979 single base substitution C T missense_variant P36S 106C>T PACA-CA 19 36549156 36549156 single base substitution A G intron_variant PACA-CA 19 36549633 36549633 single base substitution G C intron_variant PACA-CA 19 36550070 36550070 single base substitution G A intron_variant PACA-CA 19 36552121 36552121 single base substitution A G exon_variant PACA-CA 19 36552121 36552121 single base substitution A G intron_variant PACA-CA 19 36552659 36552659 single base substitution C A exon_variant PACA-CA 19 36552659 36552659 single base substitution C A intron_variant PACA-CA 19 36552678 36552678 insertion of <=200bp - C exon_variant PACA-CA 19 36552678 36552678 insertion of <=200bp - C intron_variant PACA-CA 19 36555334 36555334 single base substitution C T downstream_gene_variant PACA-CA 19 36555334 36555334 single base substitution C T intron_variant PACA-CA 19 36555487 36555487 insertion of <=200bp - T downstream_gene_variant PACA-CA 19 36555487 36555487 insertion of <=200bp - T intron_variant PACA-CA 19 36563648 36563648 single base substitution A T downstream_gene_variant PACA-CA 19 36563648 36563648 single base substitution A T intron_variant PACA-CA 19 36564449 36564449 single base substitution A C downstream_gene_variant PACA-CA 19 36564449 36564449 single base substitution A C intron_variant PACA-CA 19 36564591 36564591 insertion of <=200bp - C downstream_gene_variant PACA-CA 19 36564591 36564591 insertion of <=200bp - C exon_variant PACA-CA 19 36564591 36564591 insertion of <=200bp - C intron_variant PACA-CA 19 36564910 36564910 single base substitution G C downstream_gene_variant PACA-CA 19 36564910 36564910 single base substitution G C exon_variant PACA-CA 19 36564910 36564910 single base substitution G C intron_variant PACA-CA 19 36567868 36567869 deletion of <=200bp TG - downstream_gene_variant PACA-CA 19 36567868 36567869 deletion of <=200bp TG - intron_variant PACA-CA 19 36568527 36568527 single base substitution C T downstream_gene_variant PACA-CA 19 36568527 36568527 single base substitution C T intron_variant PACA-CA 19 36572279 36572279 insertion of <=200bp - TCATTTTC intron_variant PACA-CA 19 36574696 36574696 single base substitution G T downstream_gene_variant PACA-CA 19 36574696 36574696 single base substitution G T intron_variant PACA-CA 19 36576192 36576192 single base substitution A G downstream_gene_variant PACA-CA 19 36576192 36576192 single base substitution A G intron_variant PACA-CA 19 36576283 36576283 single base substitution G A downstream_gene_variant PACA-CA 19 36576283 36576283 single base substitution G A intron_variant PACA-CA 19 36578721 36578721 insertion of <=200bp - A intron_variant PACA-CA 19 36580901 36580901 single base substitution C T intron_variant PACA-CA 19 36581034 36581034 single base substitution G A intron_variant PACA-CA 19 36581998 36581998 single base substitution A T intron_variant PACA-CA 19 36582792 36582792 single base substitution A C intron_variant PACA-CA 19 36584359 36584359 single base substitution C T intron_variant PACA-CA 19 36585458 36585458 single base substitution A T intron_variant PACA-CA 19 36587690 36587690 single base substitution C G intron_variant PACA-CA 19 36589611 36589611 single base substitution G C intron_variant PACA-CA 19 36593336 36593336 single base substitution G T 3_prime_UTR_variant PACA-CA 19 36593336 36593336 single base substitution G T intron_variant PACA-CA 19 36593596 36593596 single base substitution C T 3_prime_UTR_variant PACA-CA 19 36593596 36593596 single base substitution C T intron_variant PACA-CA 19 36597770 36597770 single base substitution C T downstream_gene_variant PACA-CA 19 36600193 36600193 single base substitution C T downstream_gene_variant PACA-CA 19 36600507 36600507 single base substitution G A downstream_gene_variant PAEN-AU 19 36595045 36595045 single base substitution G A intron_variant PAEN-IT 19 36545302 36545302 single base substitution C A upstream_gene_variant PAEN-IT 19 36586356 36586356 single base substitution G A intron_variant PAEN-IT 19 36593261 36593261 single base substitution C A 3_prime_UTR_variant PAEN-IT 19 36593261 36593261 single base substitution C A intron_variant PBCA-DE 19 36548476 36548476 single base substitution G T intron_variant PBCA-DE 19 36553614 36553614 deletion of <=200bp A - downstream_gene_variant PBCA-DE 19 36553614 36553614 deletion of <=200bp A - intron_variant PBCA-DE 19 36554259 36554259 insertion of <=200bp - C downstream_gene_variant PBCA-DE 19 36554259 36554259 insertion of <=200bp - C intron_variant PBCA-DE 19 36557992 36557992 single base substitution C A downstream_gene_variant PBCA-DE 19 36557992 36557992 single base substitution C A intron_variant PBCA-DE 19 36557992 36557992 single base substitution C A upstream_gene_variant PBCA-DE 19 36560891 36560892 deletion of <=200bp AA - intron_variant PBCA-DE 19 36560891 36560892 deletion of <=200bp AA - upstream_gene_variant PBCA-DE 19 36561088 36561088 single base substitution G T intron_variant PBCA-DE 19 36561088 36561088 single base substitution G T upstream_gene_variant PBCA-DE 19 36563556 36563556 single base substitution G A downstream_gene_variant PBCA-DE 19 36563556 36563556 single base substitution G A intron_variant PBCA-DE 19 36577515 36577515 single base substitution G A downstream_gene_variant PBCA-DE 19 36577515 36577515 single base substitution G A intron_variant PBCA-DE 19 36579363 36579363 single base substitution A C intron_variant PBCA-DE 19 36589266 36589266 single base substitution A T intron_variant PRAD-CA 19 36556307 36556307 single base substitution G A downstream_gene_variant PRAD-CA 19 36556307 36556307 single base substitution G A intron_variant PRAD-CA 19 36567020 36567020 single base substitution C G downstream_gene_variant PRAD-CA 19 36567020 36567020 single base substitution C G intron_variant PRAD-CA 19 36573232 36573232 single base substitution C T downstream_gene_variant PRAD-CA 19 36573232 36573232 single base substitution C T intron_variant PRAD-CA 19 36588578 36588578 single base substitution G T intron_variant PRAD-UK 19 36541752 36541752 single base substitution T G upstream_gene_variant PRAD-UK 19 36560894 36560916 deletion of <=200bp GAGAGGGAGAGGGAGACCGTGGG - intron_variant PRAD-UK 19 36560894 36560916 deletion of <=200bp GAGAGGGAGAGGGAGACCGTGGG - upstream_gene_variant PRAD-UK 19 36563921 36563923 deletion of <=200bp GAG - downstream_gene_variant PRAD-UK 19 36563921 36563923 deletion of <=200bp GAG - intron_variant PRAD-UK 19 36571978 36571978 single base substitution C G intron_variant PRAD-UK 19 36577364 36577364 single base substitution C T downstream_gene_variant PRAD-UK 19 36577364 36577364 single base substitution C T intron_variant PRAD-UK 19 36583211 36583211 single base substitution A T intron_variant PRAD-UK 19 36583212 36583212 single base substitution A C intron_variant PRAD-US 19 36582178 36582178 single base substitution C T 3_prime_UTR_variant PRAD-US 19 36582178 36582178 single base substitution C T missense_variant S704L 2111C>T READ-US 19 36545112 36545112 single base substitution T G upstream_gene_variant READ-US 19 36574128 36574128 single base substitution G A 3_prime_UTR_variant READ-US 19 36574128 36574128 single base substitution G A downstream_gene_variant READ-US 19 36574128 36574128 single base substitution G A missense_variant R512Q 1535G>A READ-US 19 36581412 36581412 single base substitution C T 3_prime_UTR_variant READ-US 19 36581412 36581412 single base substitution C T missense_variant S675F 2024C>T RECA-EU 19 36543035 36543035 single base substitution C T upstream_gene_variant RECA-EU 19 36551269 36551269 single base substitution A T exon_variant RECA-EU 19 36551269 36551269 single base substitution A T intron_variant RECA-EU 19 36566172 36566172 single base substitution G A downstream_gene_variant RECA-EU 19 36566172 36566172 single base substitution G A exon_variant RECA-EU 19 36566172 36566172 single base substitution G A intron_variant RECA-EU 19 36576460 36576460 single base substitution G T downstream_gene_variant RECA-EU 19 36576460 36576460 single base substitution G T intron_variant RECA-EU 19 36579372 36579372 single base substitution G A intron_variant RECA-EU 19 36580481 36580481 single base substitution T G intron_variant SKCA-BR 19 36541571 36541571 single base substitution C T upstream_gene_variant SKCA-BR 19 36544268 36544283 deletion of <=200bp CAAAAAAAAAAAAAAA - upstream_gene_variant SKCA-BR 19 36544986 36544986 single base substitution A C upstream_gene_variant SKCA-BR 19 36548976 36548976 single base substitution G A intron_variant SKCA-BR 19 36550951 36550951 single base substitution C T exon_variant SKCA-BR 19 36550951 36550951 single base substitution C T intron_variant SKCA-BR 19 36551932 36551932 single base substitution C G exon_variant SKCA-BR 19 36551932 36551932 single base substitution C G intron_variant SKCA-BR 19 36552678 36552678 single base substitution G A exon_variant SKCA-BR 19 36552678 36552678 single base substitution G A intron_variant SKCA-BR 19 36552850 36552851 deletion of <=200bp CT - exon_variant SKCA-BR 19 36552850 36552851 deletion of <=200bp CT - intron_variant SKCA-BR 19 36555514 36555514 single base substitution C T downstream_gene_variant SKCA-BR 19 36555514 36555514 single base substitution C T intron_variant SKCA-BR 19 36556369 36556369 single base substitution G A downstream_gene_variant SKCA-BR 19 36556369 36556369 single base substitution G A intron_variant SKCA-BR 19 36556370 36556370 single base substitution G A downstream_gene_variant SKCA-BR 19 36556370 36556370 single base substitution G A intron_variant SKCA-BR 19 36558081 36558081 single base substitution C T downstream_gene_variant SKCA-BR 19 36558081 36558081 single base substitution C T intron_variant SKCA-BR 19 36558081 36558081 single base substitution C T upstream_gene_variant SKCA-BR 19 36558598 36558598 single base substitution T G intron_variant SKCA-BR 19 36558598 36558598 single base substitution T G upstream_gene_variant SKCA-BR 19 36559766 36559766 single base substitution T G intron_variant SKCA-BR 19 36559766 36559766 single base substitution T G upstream_gene_variant SKCA-BR 19 36562526 36562526 single base substitution C T downstream_gene_variant SKCA-BR 19 36562526 36562526 single base substitution C T exon_variant SKCA-BR 19 36562526 36562526 single base substitution C T synonymous_variant V317V 951C>T SKCA-BR 19 36562548 36562548 single base substitution C T downstream_gene_variant SKCA-BR 19 36562548 36562548 single base substitution C T exon_variant SKCA-BR 19 36562548 36562548 single base substitution C T synonymous_variant L325L 973C>T SKCA-BR 19 36564449 36564449 single base substitution A C downstream_gene_variant SKCA-BR 19 36564449 36564449 single base substitution A C intron_variant SKCA-BR 19 36565206 36565206 insertion of <=200bp - GA downstream_gene_variant SKCA-BR 19 36565206 36565206 insertion of <=200bp - GA exon_variant SKCA-BR 19 36565206 36565206 insertion of <=200bp - GA intron_variant SKCA-BR 19 36566842 36566842 single base substitution C T downstream_gene_variant SKCA-BR 19 36566842 36566842 single base substitution C T intron_variant SKCA-BR 19 36568178 36568179 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 19 36568178 36568179 deletion of <=200bp CT - intron_variant SKCA-BR 19 36569620 36569620 single base substitution C T downstream_gene_variant SKCA-BR 19 36569620 36569620 single base substitution C T intron_variant SKCA-BR 19 36569820 36569820 single base substitution C T downstream_gene_variant SKCA-BR 19 36569820 36569820 single base substitution C T intron_variant SKCA-BR 19 36571332 36571332 single base substitution A T intron_variant SKCA-BR 19 36573185 36573185 single base substitution A G downstream_gene_variant SKCA-BR 19 36573185 36573185 single base substitution A G intron_variant SKCA-BR 19 36574964 36574964 single base substitution C T downstream_gene_variant SKCA-BR 19 36574964 36574964 single base substitution C T intron_variant SKCA-BR 19 36576754 36576754 single base substitution C T downstream_gene_variant SKCA-BR 19 36576754 36576754 single base substitution C T intron_variant SKCA-BR 19 36577497 36577497 single base substitution C T downstream_gene_variant SKCA-BR 19 36577497 36577497 single base substitution C T intron_variant SKCA-BR 19 36577883 36577883 single base substitution C T intron_variant SKCA-BR 19 36579904 36579904 single base substitution C T intron_variant SKCA-BR 19 36580194 36580194 single base substitution G A 3_prime_UTR_variant SKCA-BR 19 36580194 36580194 single base substitution G A synonymous_variant Q648Q 1944G>A SKCA-BR 19 36581636 36581636 single base substitution G A intron_variant SKCA-BR 19 36587225 36587225 single base substitution C G intron_variant SKCA-BR 19 36587236 36587236 single base substitution C T intron_variant SKCA-BR 19 36587237 36587237 single base substitution C T intron_variant SKCA-BR 19 36588081 36588081 single base substitution C T intron_variant SKCA-BR 19 36588123 36588123 single base substitution C T intron_variant SKCA-BR 19 36591821 36591821 single base substitution C G intron_variant SKCA-BR 19 36600657 36600657 insertion of <=200bp - CA downstream_gene_variant SKCM-US 19 36557193 36557193 single base substitution T G downstream_gene_variant SKCM-US 19 36557193 36557193 single base substitution T G exon_variant SKCM-US 19 36557193 36557193 single base substitution T G missense_variant V142G 425T>G SKCM-US 19 36557193 36557193 single base substitution T G missense_variant V164G 491T>G SKCM-US 19 36557283 36557283 single base substitution C T downstream_gene_variant SKCM-US 19 36557283 36557283 single base substitution C T exon_variant SKCM-US 19 36557283 36557283 single base substitution C T missense_variant S172F 515C>T SKCM-US 19 36557283 36557283 single base substitution C T missense_variant S194F 581C>T SKCM-US 19 36558741 36558741 single base substitution A T exon_variant SKCM-US 19 36558741 36558741 single base substitution A T synonymous_variant T237T 711A>T SKCM-US 19 36558741 36558741 single base substitution A T synonymous_variant T259T 777A>T SKCM-US 19 36558741 36558741 single base substitution A T upstream_gene_variant SKCM-US 19 36558769 36558769 single base substitution C T exon_variant SKCM-US 19 36558769 36558769 single base substitution C T synonymous_variant L247L 739C>T SKCM-US 19 36558769 36558769 single base substitution C T synonymous_variant L269L 805C>T SKCM-US 19 36558769 36558769 single base substitution C T upstream_gene_variant SKCM-US 19 36562584 36562584 single base substitution C T downstream_gene_variant SKCM-US 19 36562584 36562584 single base substitution C T exon_variant SKCM-US 19 36562584 36562584 single base substitution C T missense_variant L337F 1009C>T SKCM-US 19 36572341 36572341 single base substitution C T exon_variant SKCM-US 19 36572341 36572341 single base substitution C T missense_variant P414S 1240C>T SKCM-US 19 36572471 36572471 single base substitution A G missense_variant N457S 1370A>G SKCM-US 19 36572471 36572471 single base substitution A G splice_region_variant SKCM-US 19 36574029 36574029 single base substitution C T 3_prime_UTR_variant SKCM-US 19 36574029 36574029 single base substitution C T downstream_gene_variant SKCM-US 19 36574029 36574029 single base substitution C T missense_variant P479L 1436C>T SKCM-US 19 36575559 36575559 single base substitution C T 3_prime_UTR_variant SKCM-US 19 36575559 36575559 single base substitution C T downstream_gene_variant SKCM-US 19 36575559 36575559 single base substitution C T missense_variant H519Y 1555C>T SKCM-US 19 36577688 36577688 single base substitution C T 3_prime_UTR_variant SKCM-US 19 36577688 36577688 single base substitution C T downstream_gene_variant SKCM-US 19 36577688 36577688 single base substitution C T missense_variant S581F 1742C>T SKCM-US 19 36581413 36581413 single base substitution C T 3_prime_UTR_variant SKCM-US 19 36581413 36581413 single base substitution C T synonymous_variant S675S 2025C>T SKCM-US 19 36582358 36582358 single base substitution C T 3_prime_UTR_variant SKCM-US 19 36582358 36582358 single base substitution C T missense_variant S734F 2201C>T SKCM-US 19 36583618 36583618 single base substitution G A 3_prime_UTR_variant SKCM-US 19 36583618 36583618 single base substitution G A synonymous_variant P746P 2238G>A SKCM-US 19 36587934 36587934 single base substitution C T 3_prime_UTR_variant SKCM-US 19 36587934 36587934 single base substitution C T missense_variant R825C 2473C>T SKCM-US 19 36590354 36590354 single base substitution C T 3_prime_UTR_variant SKCM-US 19 36590354 36590354 single base substitution C T synonymous_variant Y858Y 2574C>T SKCM-US 19 36591688 36591688 single base substitution C T 3_prime_UTR_variant SKCM-US 19 36591688 36591688 single base substitution C T synonymous_variant S926S 2778C>T SKCM-US 19 36591691 36591691 single base substitution C T 3_prime_UTR_variant SKCM-US 19 36591691 36591691 single base substitution C T synonymous_variant F927F 2781C>T SKCM-US 19 36592210 36592210 single base substitution C T 3_prime_UTR_variant SKCM-US 19 36592210 36592210 single base substitution C T missense_variant P988S 2962C>T SKCM-US 19 36592979 36592979 single base substitution C T 3_prime_UTR_variant SKCM-US 19 36592979 36592979 single base substitution C T missense_variant S1049F 3146C>T SKCM-US 19 36592980 36592980 single base substitution C A 3_prime_UTR_variant SKCM-US 19 36592980 36592980 single base substitution C A synonymous_variant S1049S 3147C>A SKCM-US 19 36593010 36593010 single base substitution C T 3_prime_UTR_variant SKCM-US 19 36593010 36593010 single base substitution C T synonymous_variant F1059F 3177C>T SKCM-US 19 36593925 36593925 single base substitution C T 3_prime_UTR_variant SKCM-US 19 36593925 36593925 single base substitution C T synonymous_variant G1132G 3396C>T SKCM-US 19 36593925 36593925 single base substitution C T synonymous_variant G1137G 3411C>T SKCM-US 19 36595489 36595489 single base substitution C T 3_prime_UTR_variant SKCM-US 19 36595489 36595489 single base substitution C T missense_variant P1403L 4208C>T SKCM-US 19 36595489 36595489 single base substitution C T missense_variant P1408L 4223C>T STAD-US 19 36556874 36556874 single base substitution C T downstream_gene_variant STAD-US 19 36556874 36556874 single base substitution C T exon_variant STAD-US 19 36556874 36556874 single base substitution C T missense_variant A116V 347C>T STAD-US 19 36556874 36556874 single base substitution C T missense_variant A138V 413C>T STAD-US 19 36557260 36557260 single base substitution A G downstream_gene_variant STAD-US 19 36557260 36557260 single base substitution A G exon_variant STAD-US 19 36557260 36557260 single base substitution A G synonymous_variant S164S 492A>G STAD-US 19 36557260 36557260 single base substitution A G synonymous_variant S186S 558A>G STAD-US 19 36558217 36558217 single base substitution G A downstream_gene_variant STAD-US 19 36558217 36558217 single base substitution G A exon_variant STAD-US 19 36558217 36558217 single base substitution G A missense_variant V191I 571G>A STAD-US 19 36558217 36558217 single base substitution G A missense_variant V213I 637G>A STAD-US 19 36558217 36558217 single base substitution G A upstream_gene_variant STAD-US 19 36558338 36558338 single base substitution A G downstream_gene_variant STAD-US 19 36558338 36558338 single base substitution A G exon_variant STAD-US 19 36558338 36558338 single base substitution A G missense_variant E231G 692A>G STAD-US 19 36558338 36558338 single base substitution A G missense_variant E253G 758A>G STAD-US 19 36558338 36558338 single base substitution A G upstream_gene_variant STAD-US 19 36558857 36558857 single base substitution G C exon_variant STAD-US 19 36558857 36558857 single base substitution G C missense_variant G276A 827G>C STAD-US 19 36558857 36558857 single base substitution G C missense_variant G298A 893G>C STAD-US 19 36558857 36558857 single base substitution G C upstream_gene_variant STAD-US 19 36564323 36564323 single base substitution T A downstream_gene_variant STAD-US 19 36564323 36564323 single base substitution T A exon_variant STAD-US 19 36564323 36564323 single base substitution T A missense_variant S375T 1123T>A STAD-US 19 36575648 36575648 single base substitution T C downstream_gene_variant STAD-US 19 36575648 36575648 single base substitution T C splice_donor_variant STAD-US 19 36579994 36579994 single base substitution G A 3_prime_UTR_variant STAD-US 19 36579994 36579994 single base substitution G A missense_variant R608H 1823G>A STAD-US 19 36582142 36582142 single base substitution G A 3_prime_UTR_variant STAD-US 19 36582142 36582142 single base substitution G A missense_variant C692Y 2075G>A STAD-US 19 36583682 36583682 single base substitution A G 3_prime_UTR_variant STAD-US 19 36583682 36583682 single base substitution A G missense_variant T768A 2302A>G STAD-US 19 36583697 36583697 single base substitution C T 3_prime_UTR_variant STAD-US 19 36583697 36583697 single base substitution C T missense_variant R773W 2317C>T STAD-US 19 36590367 36590367 single base substitution C T 3_prime_UTR_variant STAD-US 19 36590367 36590367 single base substitution C T missense_variant R863C 2587C>T STAD-US 19 36593712 36593712 single base substitution T C 3_prime_UTR_variant STAD-US 19 36593712 36593712 single base substitution T C synonymous_variant S1093S 3279T>C STAD-US 19 36593712 36593712 single base substitution T C synonymous_variant S1098S 3294T>C STAD-US 19 36593955 36593955 single base substitution C T 3_prime_UTR_variant STAD-US 19 36593955 36593955 single base substitution C T synonymous_variant Y1142Y 3426C>T STAD-US 19 36593955 36593955 single base substitution C T synonymous_variant Y1147Y 3441C>T STAD-US 19 36594075 36594075 single base substitution G T 3_prime_UTR_variant STAD-US 19 36594075 36594075 single base substitution G T missense_variant K1155N 3465G>T STAD-US 19 36594075 36594075 single base substitution G T missense_variant K1160N 3480G>T STAD-US 19 36594454 36594454 single base substitution G A 3_prime_UTR_variant STAD-US 19 36594454 36594454 single base substitution G A missense_variant V1237M 3709G>A STAD-US 19 36594454 36594454 single base substitution G A missense_variant V1242M 3724G>A STAD-US 19 36594542 36594542 single base substitution C T 3_prime_UTR_variant STAD-US 19 36594542 36594542 single base substitution C T missense_variant A1266V 3797C>T STAD-US 19 36594542 36594542 single base substitution C T missense_variant A1271V 3812C>T STAD-US 19 36594611 36594611 single base substitution G A 3_prime_UTR_variant STAD-US 19 36594611 36594611 single base substitution G A missense_variant R1289Q 3866G>A STAD-US 19 36594611 36594611 single base substitution G A missense_variant R1294Q 3881G>A STAD-US 19 36594764 36594764 single base substitution G A 3_prime_UTR_variant STAD-US 19 36594764 36594764 single base substitution G A missense_variant R1340H 4019G>A STAD-US 19 36594764 36594764 single base substitution G A missense_variant R1345H 4034G>A STAD-US 19 36595572 36595572 single base substitution C T 3_prime_UTR_variant STAD-US 19 36595572 36595572 single base substitution C T missense_variant R1431C 4291C>T STAD-US 19 36595572 36595572 single base substitution C T missense_variant R1436C 4306C>T STAD-US 19 36595830 36595830 single base substitution C T 3_prime_UTR_variant STAD-US 19 36595830 36595830 single base substitution C T missense_variant P1486L 4457C>T STAD-US 19 36595830 36595830 single base substitution C T missense_variant P1491L 4472C>T STAD-US 19 36595895 36595895 single base substitution G T 3_prime_UTR_variant STAD-US 19 36595895 36595895 single base substitution G T missense_variant V1508L 4522G>T STAD-US 19 36595895 36595895 single base substitution G T missense_variant V1513L 4537G>T STAD-US 19 36595902 36595902 single base substitution C T 3_prime_UTR_variant STAD-US 19 36595902 36595902 single base substitution C T missense_variant A1510V 4529C>T STAD-US 19 36595902 36595902 single base substitution C T missense_variant A1515V 4544C>T THCA-SA 19 36549690 36549690 single base substitution C T exon_variant THCA-SA 19 36549690 36549690 single base substitution C T synonymous_variant L56L 168C>T THCA-SA 19 36549690 36549690 single base substitution C T synonymous_variant L62L 186C>T THCA-SA 19 36575645 36575645 single base substitution G A downstream_gene_variant THCA-SA 19 36575645 36575645 single base substitution G A splice_region_variant THCA-SA 19 36594608 36594608 single base substitution C A 3_prime_UTR_variant THCA-SA 19 36594608 36594608 single base substitution C A missense_variant A1288D 3863C>A THCA-SA 19 36594608 36594608 single base substitution C A missense_variant A1293D 3878C>A THCA-US 19 36558892 36558892 single base substitution G T exon_variant THCA-US 19 36558892 36558892 single base substitution G T stop_gained E288* 862G>T THCA-US 19 36558892 36558892 single base substitution G T stop_gained E310* 928G>T THCA-US 19 36558892 36558892 single base substitution G T upstream_gene_variant UCEC-US 19 36558745 36558745 single base substitution C T exon_variant UCEC-US 19 36558745 36558745 single base substitution C T missense_variant P239S 715C>T UCEC-US 19 36558745 36558745 single base substitution C T missense_variant P261S 781C>T UCEC-US 19 36558745 36558745 single base substitution C T upstream_gene_variant UCEC-US 19 36558757 36558757 single base substitution C T exon_variant UCEC-US 19 36558757 36558757 single base substitution C T missense_variant R243C 727C>T UCEC-US 19 36558757 36558757 single base substitution C T missense_variant R265C 793C>T UCEC-US 19 36558757 36558757 single base substitution C T upstream_gene_variant UCEC-US 19 36558828 36558828 single base substitution G A exon_variant UCEC-US 19 36558828 36558828 single base substitution G A synonymous_variant A266A 798G>A UCEC-US 19 36558828 36558828 single base substitution G A synonymous_variant A288A 864G>A UCEC-US 19 36558828 36558828 single base substitution G A upstream_gene_variant UCEC-US 19 36564262 36564262 single base substitution G T downstream_gene_variant UCEC-US 19 36564262 36564262 single base substitution G T exon_variant UCEC-US 19 36564262 36564262 single base substitution G T missense_variant K354N 1062G>T UCEC-US 19 36564345 36564345 single base substitution G T downstream_gene_variant UCEC-US 19 36564345 36564345 single base substitution G T exon_variant UCEC-US 19 36564345 36564345 single base substitution G T missense_variant S382I 1145G>T UCEC-US 19 36573976 36573976 single base substitution G T 3_prime_UTR_variant UCEC-US 19 36573976 36573976 single base substitution G T downstream_gene_variant UCEC-US 19 36573976 36573976 single base substitution G T missense_variant K461N 1383G>T UCEC-US 19 36579993 36579993 single base substitution C T 3_prime_UTR_variant UCEC-US 19 36579993 36579993 single base substitution C T missense_variant R608C 1822C>T UCEC-US 19 36582182 36582182 single base substitution C T 3_prime_UTR_variant UCEC-US 19 36582182 36582182 single base substitution C T synonymous_variant G705G 2115C>T UCEC-US 19 36590402 36590402 single base substitution G A 3_prime_UTR_variant UCEC-US 19 36590402 36590402 single base substitution G A synonymous_variant K874K 2622G>A UCEC-US 19 36590454 36590454 single base substitution G A 3_prime_UTR_variant UCEC-US 19 36590454 36590454 single base substitution G A missense_variant E892K 2674G>A UCEC-US 19 36591674 36591674 single base substitution C T 3_prime_UTR_variant UCEC-US 19 36591674 36591674 single base substitution C T missense_variant R922C 2764C>T UCEC-US 19 36592161 36592161 single base substitution G A 3_prime_UTR_variant UCEC-US 19 36592161 36592161 single base substitution G A synonymous_variant Q971Q 2913G>A UCEC-US 19 36592208 36592208 single base substitution G A 3_prime_UTR_variant UCEC-US 19 36592208 36592208 single base substitution G A missense_variant S987N 2960G>A UCEC-US 19 36592647 36592647 single base substitution G A 3_prime_UTR_variant UCEC-US 19 36592647 36592647 single base substitution G A missense_variant R1018Q 3053G>A UCEC-US 19 36593649 36593649 single base substitution C T 3_prime_UTR_variant UCEC-US 19 36593649 36593649 single base substitution C T splice_region_variant UCEC-US 19 36593649 36593649 single base substitution C T synonymous_variant P1077P 3231C>T UCEC-US 19 36593925 36593925 single base substitution C T 3_prime_UTR_variant UCEC-US 19 36593925 36593925 single base substitution C T synonymous_variant G1132G 3396C>T UCEC-US 19 36593925 36593925 single base substitution C T synonymous_variant G1137G 3411C>T UCEC-US 19 36594454 36594454 single base substitution G A 3_prime_UTR_variant UCEC-US 19 36594454 36594454 single base substitution G A missense_variant V1237M 3709G>A UCEC-US 19 36594454 36594454 single base substitution G A missense_variant V1242M 3724G>A UCEC-US 19 36594596 36594596 single base substitution G A 3_prime_UTR_variant UCEC-US 19 36594596 36594596 single base substitution G A missense_variant G1284D 3851G>A UCEC-US 19 36594596 36594596 single base substitution G A missense_variant G1289D 3866G>A UCEC-US 19 36595509 36595509 single base substitution A G 3_prime_UTR_variant UCEC-US 19 36595509 36595509 single base substitution A G missense_variant S1410G 4228A>G UCEC-US 19 36595509 36595509 single base substitution A G missense_variant S1415G 4243A>G UCEC-US 19 36595572 36595572 single base substitution C T 3_prime_UTR_variant UCEC-US 19 36595572 36595572 single base substitution C T missense_variant R1431C 4291C>T UCEC-US 19 36595572 36595572 single base substitution C T missense_variant R1436C 4306C>T UCEC-US 19 36595775 36595775 single base substitution G A 3_prime_UTR_variant UCEC-US 19 36595775 36595775 single base substitution G A missense_variant G1468R 4402G>A UCEC-US 19 36595775 36595775 single base substitution G A missense_variant G1473R 4417G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SNUH_G22_S1 COSM4000686 c.3220+6G>C p.? Unknown 19:36102157-36102157 + CN-AML-CR-18-Dx COSM5424830 c.1219G>A p.V407I Substitution - Missense 19:36073517-36073517 + TCGA-CH-5771-01 COSM1129883 c.4155A>C p.L1385F Substitution - Missense 19:36104534-36104534 + SW1417 COSM4645982 c.2976G>A p.S992S Substitution - coding silent 19:36101668-36101668 + TCGA-D5-6928-01 COSM995366 c.1822C>T p.R608C Substitution - Missense 19:36089091-36089091 + BD174T COSM5521399 c.4243A>G p.I1415V Substitution - Missense 19:36104622-36104622 + KM12 COSM188069 c.1487G>A p.R496Q Substitution - Missense 19:36083178-36083178 + C086 COSM1172619 c.1861C>T p.R621C Substitution - Missense 19:36089209-36089209 + TCGA-HC-7818-01 COSM3199450 c.2111C>T p.S704L Substitution - Missense 19:36091276-36091276 + TCGA-EE-A2MD-06 COSM3532883 c.1555C>T p.H519Y Substitution - Missense 19:36084657-36084657 + TCGA-CG-5723-01 COSM4077310 c.492A>G p.S164S Substitution - coding silent 19:36066358-36066358 + YUPAER COSM5389503 c.33G>A p.R11R Substitution - coding silent 19:36055004-36055004 + PTC-10C COSM4131726 c.61G>T p.V21F Substitution - Missense 19:36055032-36055032 + TCGA-G4-6628-01 COSM1393041 c.2964G>A p.P988P Substitution - coding silent 19:36101310-36101310 + Pat_34_A COSM5855557 c.2608C>T p.Q870* Substitution - Nonsense 19:36099486-36099486 + 587336 COSM1232624 c.484G>A p.A162T Substitution - Missense 19:36066350-36066350 + NB-1155 COSM1288944 c.1123T>G p.S375A Substitution - Missense 19:36073421-36073421 + TCGA-A5-A0G9-01 COSM995358 c.715C>T p.P239S Substitution - Missense 19:36067843-36067843 + TCGA-AP-A059-01 COSM995359 c.727C>T p.R243C Substitution - Missense 19:36067855-36067855 + TCGA-EE-A20C-06 COSM3532884 c.2025C>T p.S675S Substitution - coding silent 19:36090511-36090511 + TCGA-EJ-7125-01 COSM3672870 c.1978G>T p.G660W Substitution - Missense 19:36090464-36090464 + KM12 COSM188069 c.1487G>A p.R496Q Substitution - Missense 19:36083178-36083178 + pfg014T COSM1641134 c.1575C>T p.D525D Substitution - coding silent 19:36084677-36084677 + TCGA-IR-A3LI-01 COSM4846258 c.3340C>T p.P1114S Substitution - Missense 19:36102967-36102967 + C058 COSM5525826 c.4198G>A p.E1400K Substitution - Missense 19:36104577-36104577 + PTC-7C COSM3756682 c.3914A>T p.Q1305L Substitution - Missense 19:36103757-36103757 + TCGA-EE-A2MS-06 COSM3532888 c.2781C>T p.F927F Substitution - coding silent 19:36100789-36100789 + TCGA-HU-A4G8-01 COSM4077332 c.3866G>A p.R1289Q Substitution - Missense 19:36103709-36103709 + TCGA-AL-3473-01 COSM3199450 c.2111C>T p.S704L Substitution - Missense 19:36091276-36091276 + TCGA-B8-4153-01 COSM474612 c.1481G>A p.G494E Substitution - Missense 19:36083172-36083172 + 001 COSM1161878 c.3742T>C p.S1248P Substitution - Missense 19:36103585-36103585 + S01022 COSM5665846 c.191A>T p.K64M Substitution - Missense 19:36058793-36058793 + PT14_1 COSM5897206 c.2774C>T p.P925L Substitution - Missense 19:36100782-36100782 + Gp5D COSM3199445 c.1816T>C p.Y606H Substitution - Missense 19:36089085-36089085 + TCGA-EE-A29R-06 COSM3532880 c.1370A>G p.N457S Substitution - Missense 19:36081569-36081569 + Pat_24_A COSM5855558 c.3922G>A p.V1308M Substitution - Missense 19:36103765-36103765 + T2197 COSM4741021 c.971G>A p.S324N Substitution - Missense 19:36071644-36071644 + AOCS-161-1-9 COSM4140554 c.750G>A p.L250L Substitution - coding silent 19:36067878-36067878 + TCGA-EB-A5SG-06 COSM3892380 c.1742C>T p.S581F Substitution - Missense 19:36086786-36086786 + EV001-R2 COSM1161878 c.3742T>C p.S1248P Substitution - Missense 19:36103585-36103585 + QC2-32-T2 COSM148599 c.186C>T p.L62L Substitution - coding silent 19:36058788-36058788 + TCGA-DK-A1A5-01 COSM418308 c.1450G>A p.E484K Substitution - Missense 19:36083141-36083141 + TCGA-BF-A3DL-01 COSM4904478 c.4208C>T p.P1403L Substitution - Missense 19:36104587-36104587 + EV001-R1 COSM1161878 c.3742T>C p.S1248P Substitution - Missense 19:36103585-36103585 + TCGA-D1-A16X-01 COSM995369 c.2674G>A p.E892K Substitution - Missense 19:36099552-36099552 + LS174T COSM4645982 c.2976G>A p.S992S Substitution - coding silent 19:36101668-36101668 + TCGA-BH-A0B1-01 COSM439313 c.2384G>A p.G795E Substitution - Missense 19:36094081-36094081 + TCGA-BR-4280-01 COSM4077330 c.3465G>T p.K1155N Substitution - Missense 19:36103173-36103173 + I2L-P24Ta-Tumor-Biopsy COSM4077331 c.3797C>T p.A1266V Substitution - Missense 19:36103640-36103640 + CSCC-41-T COSM4480485 c.2423C>T p.P808L Substitution - Missense 19:36094120-36094120 + TCGA-CM-4746-01 COSM1393044 c.4207C>T p.P1403S Substitution - Missense 19:36104586-36104586 + HCC058T COSM5804033 c.135G>C p.R45R Substitution - coding silent 19:36055106-36055106 + C086 COSM5541719 c.2061C>T p.F687F Substitution - coding silent 19:36091226-36091226 + H1155 COSM1195937 c.935G>A p.C312Y Substitution - Missense 19:36071608-36071608 + TCGA-AP-A056-01 COSM995376 c.3709G>A p.V1237M Substitution - Missense 19:36103552-36103552 + LUAD-S01315 COSM344699 c.3876G>A p.L1292L Substitution - coding silent 19:36103719-36103719 + TCGA-GM-A2DO-01 COSM3822796 c.2386G>A p.E796K Substitution - Missense 19:36094083-36094083 + TCGA-BR-7851-01 COSM995376 c.3709G>A p.V1237M Substitution - Missense 19:36103552-36103552 + TCGA-D1-A174-01 COSM995361 c.1062G>T p.K354N Substitution - Missense 19:36073360-36073360 + EV001-M2b COSM1161878 c.3742T>C p.S1248P Substitution - Missense 19:36103585-36103585 + PD23562a COSM5774128 c.3186C>A p.H1062Q Substitution - Missense 19:36102117-36102117 + OSCC-GB_01280111 COSM5954217 c.3880C>T p.L1294L Substitution - coding silent 19:36103723-36103723 + 3402_T COSM3959967 c.1745C>G p.S582C Substitution - Missense 19:36086789-36086789 + HCC161 COSM3707074 c.1540G>T p.G514* Substitution - Nonsense 19:36083231-36083231 + SC_9081 COSM5565557 c.953G>A p.R318H Substitution - Missense 19:36071626-36071626 + 53M COSM5477044 c.1764C>T p.F588F Substitution - coding silent 19:36086808-36086808 + TCGA-BR-7707-01 COSM4077329 c.3426C>T p.Y1142Y Substitution - coding silent 19:36103053-36103053 + EV001-M1 COSM1161878 c.3742T>C p.S1248P Substitution - Missense 19:36103585-36103585 + sysucc-311T COSM5464502 c.1069G>A p.A357T Substitution - Missense 19:36073367-36073367 + PTC-7C COSM1129883 c.4155A>C p.L1385F Substitution - Missense 19:36104534-36104534 + TCGA-A3-3380-01 COSM1494301 c.3160C>T p.P1054S Substitution - Missense 19:36102091-36102091 + Pat_24_A COSM5855554 c.1783C>T p.Q595* Substitution - Nonsense 19:36089052-36089052 + BN01T COSM1612109 c.1233+5_1233+6insC p.? Unknown 19:36073536-36073537 + 587284 COSM316545 c.3491G>A p.R1164H Substitution - Missense 19:36103199-36103199 + ZZUFHECRKL-G045T COSM5437943 c.2362G>C p.E788Q Substitution - Missense 19:36094059-36094059 + PT42 COSM5926065 c.883-8C>T p.? Unknown 19:36071548-36071548 + HCC161T COSM3707074 c.1540G>T p.G514* Substitution - Nonsense 19:36083231-36083231 + TCGA-EE-A29D-06 COSM3532873 c.739C>T p.L247L Substitution - coding silent 19:36067867-36067867 + TCGA-EE-A2GI-06 COSM3532869 c.515C>T p.S172F Substitution - Missense 19:36066381-36066381 + TCGA-EE-A29E-06 COSM3532887 c.2778C>T p.S926S Substitution - coding silent 19:36100786-36100786 + 169 COSM3728997 c.1233+6_1233+7delCC p.? Unknown 19:36073537-36073538 + LUAD-S01357 COSM386944 c.661G>T p.V221L Substitution - Missense 19:36067405-36067405 + TCGA-A3-3363-01 COSM1494302 c.1176C>T p.N392N Substitution - coding silent 19:36073474-36073474 + S00035 COSM3199487 c.3688G>A p.G1230S Substitution - Missense 19:36103531-36103531 + I2L-P24Tb-Tumor-Biopsy COSM4077331 c.3797C>T p.A1266V Substitution - Missense 19:36103640-36103640 + TCGA-ER-A3PL-06 COSM3532885 c.2238G>A p.P746P Substitution - coding silent 19:36092716-36092716 + ccRCC-22 COSM1664997 c.1858G>T p.V620F Substitution - Missense 19:36089206-36089206 + TCGA-HU-A4GU-01 COSM4077335 c.4522G>T p.V1508L Substitution - Missense 19:36104993-36104993 + S00936 COSM316546 c.3795C>A p.T1265T Substitution - coding silent 19:36103638-36103638 + PA018 COSM1162186 c.788G>C p.G263A Substitution - Missense 19:36067916-36067916 + PTC-7C COSM4131728 c.2549T>C p.L850S Substitution - Missense 19:36099427-36099427 + EV001-R3 COSM1161878 c.3742T>C p.S1248P Substitution - Missense 19:36103585-36103585 + CN-AML-NR-32-Dx COSM5424830 c.1219G>A p.V407I Substitution - Missense 19:36073517-36073517 + pfg014T COSM1641135 c.3297C>T p.L1099L Substitution - coding silent 19:36102828-36102828 + TCGA-BR-8487-01 COSM4077331 c.3797C>T p.A1266V Substitution - Missense 19:36103640-36103640 + sysucc-311T COSM5477044 c.1764C>T p.F588F Substitution - coding silent 19:36086808-36086808 + 587226 COSM1232622 c.2513A>C p.K838T Substitution - Missense 19:36097072-36097072 + TCGA-DC-6154-01 COSM3422700 c.2024C>T p.S675F Substitution - Missense 19:36090510-36090510 + EV001-R5 COSM1161878 c.3742T>C p.S1248P Substitution - Missense 19:36103585-36103585 + TCGA-21-1081-01 COSM711839 c.391-2A>G p.? Unknown 19:36066255-36066255 + GC8_T COSM148600 c.1641G>A p.T547T Substitution - coding silent 19:36084743-36084743 + EV001-R8 COSM1161878 c.3742T>C p.S1248P Substitution - Missense 19:36103585-36103585 + BD114T COSM5504522 c.2886G>A p.E962E Substitution - coding silent 19:36101232-36101232 + S00936 COSM316545 c.3491G>A p.R1164H Substitution - Missense 19:36103199-36103199 + TCGA-AC-A23H-01 COSM3822792 c.847G>C p.E283Q Substitution - Missense 19:36067975-36067975 + YUGAFFE COSM337048 c.2473C>T p.R825C Substitution - Missense 19:36097032-36097032 + HCT15 COSM3199492 c.3823G>T p.G1275C Substitution - Missense 19:36103666-36103666 + LUAD_E00522 COSM352741 c.883-2A>T p.? Unknown 19:36071554-36071554 + TCGA-GF-A6C9-06 COSM4901687 c.2201C>T p.S734F Substitution - Missense 19:36091456-36091456 + HCT15 COSM1680909 c.2963C>T p.P988L Substitution - Missense 19:36101309-36101309 + 513 COSM1129883 c.4155A>C p.L1385F Substitution - Missense 19:36104534-36104534 + TCGA-04-1646-01 COSM1325310 c.3397G>A p.G1133R Substitution - Missense 19:36103024-36103024 + 2492701 COSM5600853 c.1111C>T p.H371Y Substitution - Missense 19:36073409-36073409 + CHEWS012 COSM4077327 c.2587C>T p.R863C Substitution - Missense 19:36099465-36099465 + TP_2032 COSM5548574 c.3952G>A p.A1318T Substitution - Missense 19:36103795-36103795 + TCGA-EE-A2GC-06 COSM3532883 c.1555C>T p.H519Y Substitution - Missense 19:36084657-36084657 + EV001-R4 COSM1161878 c.3742T>C p.S1248P Substitution - Missense 19:36103585-36103585 + Au2 COSM5600853 c.1111C>T p.H371Y Substitution - Missense 19:36073409-36073409 + TCGA-AP-A059-01 COSM995375 c.3396C>T p.G1132G Substitution - coding silent 19:36103023-36103023 + SH-0622 COSM5018437 c.86delG p.G30fs*47 Deletion - Frameshift 19:36055057-36055057 + BD236T COSM5519652 c.1233+6delC p.? Unknown 19:36073537-36073537 + TCGA-BG-A0MQ-01 COSM995373 c.3053G>A p.R1018Q Substitution - Missense 19:36101745-36101745 + S02241 COSM3199409 c.546C>T p.N182N Substitution - coding silent 19:36066412-36066412 + XHDG63C COSM3756682 c.3914A>T p.Q1305L Substitution - Missense 19:36103757-36103757 + I2L-P24Tb-Tumor-Organoid COSM4077331 c.3797C>T p.A1266V Substitution - Missense 19:36103640-36103640 + Pat_22_B COSM5855556 c.2329C>T p.P777S Substitution - Missense 19:36092807-36092807 + PT50 COSM5937839 c.3653G>A p.S1218N Substitution - Missense 19:36103496-36103496 + LP6007404-DNA_A01 COSM4412075 c.2588G>A p.R863H Substitution - Missense 19:36099466-36099466 + TCGA-BR-6452-01 COSM4077328 c.3279T>C p.S1093S Substitution - coding silent 19:36102810-36102810 + TCGA-CD-A4MG-01 COSM4077336 c.4529C>T p.A1510V Substitution - Missense 19:36105000-36105000 + T1154 COSM316545 c.3491G>A p.R1164H Substitution - Missense 19:36103199-36103199 + 16T COSM3712898 c.187G>A p.E63K Substitution - Missense 19:36058789-36058789 + BD49T COSM5498330 c.3499C>T p.P1167S Substitution - Missense 19:36103207-36103207 + TCGA-AP-A059-01 COSM995372 c.2960G>A p.S987N Substitution - Missense 19:36101306-36101306 + Pat_24_B COSM5855554 c.1783C>T p.Q595* Substitution - Nonsense 19:36089052-36089052 + TCGA-AD-6964-01 COSM1393040 c.2561C>T p.A854V Substitution - Missense 19:36099439-36099439 + T3024 COSM4741019 c.8C>T p.A3V Substitution - Missense 19:36054979-36054979 + PT35 COSM5914223 c.1079C>T p.P360L Substitution - Missense 19:36073377-36073377 + TCGA-ER-A19E-06 COSM3532889 c.3146C>T p.S1049F Substitution - Missense 19:36102077-36102077 + ZZUFHECRKL-G056T COSM5438158 c.4358C>A p.T1453N Substitution - Missense 19:36104829-36104829 + CN-AML-NR-13-Dx COSM5424830 c.1219G>A p.V407I Substitution - Missense 19:36073517-36073517 + CHOL12 COSM1744743 c.1824C>T p.R608R Substitution - coding silent 19:36089093-36089093 + TCGA-CG-5719-01 COSM4077316 c.827G>C p.G276A Substitution - Missense 19:36067955-36067955 + OSCC-GB_00960111 COSM4885482 c.1949G>T p.R650L Substitution - Missense 19:36089297-36089297 + CHLA-258 COSM4580970 c.3863C>A p.A1288D Substitution - Missense 19:36103706-36103706 + 76629543 COSM1582408 c.189G>T p.E63D Substitution - Missense 19:36058791-36058791 + TCGA-CS-6667-01 COSM3970943 c.1355A>T p.K452I Substitution - Missense 19:36081554-36081554 + Pat_53_B COSM5855555 c.2285G>A p.R762Q Substitution - Missense 19:36092763-36092763 + OSCC-GB_00160111 COSM3712898 c.187G>A p.E63K Substitution - Missense 19:36058789-36058789 + CHEWS014 COSM3199437 c.1480G>A p.G494R Substitution - Missense 19:36083171-36083171 + TCGA-60-2725-01 COSM711841 c.210C>A p.A70A Substitution - coding silent 19:36058812-36058812 + CN-AML-CR-62-Dx COSM4131728 c.2549T>C p.L850S Substitution - Missense 19:36099427-36099427 + TCGA-D1-A17F-01 COSM995370 c.2764C>T p.R922C Substitution - Missense 19:36100772-36100772 + SNU-175 COSM3199441 c.1753G>A p.A585T Substitution - Missense 19:36086797-36086797 + TCGA-AM-5820-01 COSM3692687 c.2529C>T p.D843D Substitution - coding silent 19:36099407-36099407 + Au4 COSM5605348 c.903C>T p.L301L Substitution - coding silent 19:36071576-36071576 + ACINAR01 COSM1325310 c.3397G>A p.G1133R Substitution - Missense 19:36103024-36103024 + TCGA-CD-A4MG-01 COSM4077319 c.1123T>A p.S375T Substitution - Missense 19:36073421-36073421 + CSCC-44-T COSM4502639 c.618C>G p.F206L Substitution - Missense 19:36067362-36067362 + TCGA-EE-A2GM-06 COSM3532882 c.1436C>T p.P479L Substitution - Missense 19:36083127-36083127 + TCGA-AX-A0J1-01 COSM995367 c.2115C>T p.G705G Substitution - coding silent 19:36091280-36091280 + CSCC-31-T COSM3199483 c.3539C>T p.S1180F Substitution - Missense 19:36103382-36103382 + SC_9061 COSM5569108 c.3444C>G p.T1148T Substitution - coding silent 19:36103071-36103071 + S02375 COSM5696515 c.1929G>T p.V643V Substitution - coding silent 19:36089277-36089277 + TCGA-EE-A2A5-06 COSM3532890 c.3147C>A p.S1049S Substitution - coding silent 19:36102078-36102078 + TCGA-AX-A060-01 COSM995377 c.3851G>A p.G1284D Substitution - Missense 19:36103694-36103694 + PCSI_0591_Pa_P_526 COSM5760640 c.106C>T p.P36S Substitution - Missense 19:36055077-36055077 + TCGA-EE-A3AG-06 COSM3532878 c.1240C>T p.P414S Substitution - Missense 19:36081439-36081439 + LC_S33 COSM1190013 c.4132A>G p.T1378A Substitution - Missense 19:36103975-36103975 + 587228 COSM1232623 c.3287C>T p.T1096M Substitution - Missense 19:36102818-36102818 + AOCS-137-1-X COSM4140556 c.1730A>G p.D577G Substitution - Missense 19:36086774-36086774 + P146 COSM1737203 c.1959-3C>T p.? Unknown 19:36090442-36090442 + TCGA-AN-A046-01 COSM3822797 c.2395G>A p.E799K Substitution - Missense 19:36094092-36094092 + CHEWS010 COSM4580968 c.834C>G p.L278L Substitution - coding silent 19:36067962-36067962 + HCT-15 COSM1680909 c.2963C>T p.P988L Substitution - Missense 19:36101309-36101309 + TCGA-AZ-6601-01 COSM1393043 c.3454G>T p.A1152S Substitution - Missense 19:36103162-36103162 + T2940 COSM4741023 c.985G>A p.A329T Substitution - Missense 19:36071658-36071658 + TCGA-BR-8078-01 COSM4077312 c.571G>A p.V191I Substitution - Missense 19:36067315-36067315 + TCGA-BP-5192-01 COSM474613 c.2238G>T p.P746P Substitution - coding silent 19:36092716-36092716 + OSCC-GB_00930111 COSM4888257 c.1521G>A p.L507L Substitution - coding silent 19:36083212-36083212 + TCGA-BS-A0TJ-01 COSM995374 c.3221-5C>T p.? Unknown 19:36102747-36102747 + TCGA-AA-3955-01 COSM297089 c.4043C>T p.S1348F Substitution - Missense 19:36103886-36103886 + TCGA-AN-A046-01 COSM3822794 c.1490T>G p.V497G Substitution - Missense 19:36083181-36083181 + 2492700 COSM5600853 c.1111C>T p.H371Y Substitution - Missense 19:36073409-36073409 + Pat_22_a COSM5855556 c.2329C>T p.P777S Substitution - Missense 19:36092807-36092807 + TCGA-D9-A6EC-06 COSM4405457 c.3177C>T p.F1059F Substitution - coding silent 19:36102108-36102108 + MO_1012 COSM5555096 c.801C>T p.G267G Substitution - coding silent 19:36067929-36067929 + TCGA-CD-8535-01 COSM4077325 c.2302A>G p.T768A Substitution - Missense 19:36092780-36092780 + 61 COSM5741551 c.3688G>T p.G1230C Substitution - Missense 19:36103531-36103531 + DN111AE COSM5800240 c.1866C>T p.T622T Substitution - coding silent 19:36089214-36089214 + STC263 COSM5056563 c.4107C>T p.G1369G Substitution - coding silent 19:36103950-36103950 + sysucc-1397T COSM5474140 c.3659G>A p.R1220H Substitution - Missense 19:36103502-36103502 + T3118 COSM4741029 c.3945C>T p.T1315T Substitution - coding silent 19:36103788-36103788 + 6P2-1 COSM3734374 c.4154T>G p.L1385* Substitution - Nonsense 19:36104533-36104533 + GC8_T COSM148599 c.186C>T p.L62L Substitution - coding silent 19:36058788-36058788 + T3724 COSM4741028 c.3590delC p.P1198fs*95 Deletion - Frameshift 19:36103433-36103433 + OSCC-GB_00850111 COSM4891432 c.4511C>A p.S1504* Substitution - Nonsense 19:36104982-36104982 + 3N44-VS-3T44 COSM4982238 c.2232G>A p.L744L Substitution - coding silent 19:36092710-36092710 + TCGA-66-2793-01 COSM711842 c.139C>T p.R47* Substitution - Nonsense 19:36055110-36055110 + TCGA-BH-A0HF-01 COSM3822798 c.2678G>A p.S893N Substitution - Missense 19:36099556-36099556 + TCGA-DK-A1A3-01 COSM418307 c.2743G>A p.E915K Substitution - Missense 19:36100751-36100751 + TCGA-CG-5721-01 COSM995379 c.4291C>T p.R1431C Substitution - Missense 19:36104670-36104670 + PD24195a COSM3199441 c.1753G>A p.A585T Substitution - Missense 19:36086797-36086797 + ESOSCC157T COSM1172619 c.1861C>T p.R621C Substitution - Missense 19:36089209-36089209 + LUAD-D01382 COSM337048 c.2473C>T p.R825C Substitution - Missense 19:36097032-36097032 + TCGA-BR-4363-01 COSM4077314 c.692A>G p.E231G Substitution - Missense 19:36067436-36067436 + SNUH_G76_S1 COSM148600 c.1641G>A p.T547T Substitution - coding silent 19:36084743-36084743 + TCGA-CG-4305-01 COSM4077327 c.2587C>T p.R863C Substitution - Missense 19:36099465-36099465 + CN-AML-32-T COSM5424830 c.1219G>A p.V407I Substitution - Missense 19:36073517-36073517 + TCGA-EE-A2GJ-06 COSM3532875 c.1009C>T p.L337F Substitution - Missense 19:36071682-36071682 + HCC068T COSM5824134 c.445G>T p.A149S Substitution - Missense 19:36066311-36066311 + TCGA-DK-A1AC-01 COSM1304463 c.2639A>G p.Q880R Substitution - Missense 19:36099517-36099517 + 24T COSM3712900 c.3552C>T p.P1184P Substitution - coding silent 19:36103395-36103395 + tumor_4119027 COSM1161270 c.4512G>A p.S1504S Substitution - coding silent 19:36104983-36104983 + PA018 COSM1162185 c.785G>T p.R262L Substitution - Missense 19:36067913-36067913 + CN-AML-13-T COSM5424830 c.1219G>A p.V407I Substitution - Missense 19:36073517-36073517 + 66 COSM5743986 c.2215G>A p.V739M Substitution - Missense 19:36092693-36092693 + TCGA-EE-A2MK-06 COSM3199467 c.2962C>T p.P988S Substitution - Missense 19:36101308-36101308 + TCGA-D9-A1JW-06 COSM3532871 c.711A>T p.T237T Substitution - coding silent 19:36067839-36067839 + YUOTHO COSM5389505 c.2145A>T p.S715S Substitution - coding silent 19:36091310-36091310 + T3088 COSM4741027 c.2879G>A p.R960K Substitution - Missense 19:36101225-36101225 + TCGA-AU-6004-01 COSM1393042 c.3087C>T p.C1029C Substitution - coding silent 19:36102018-36102018 + T2987 COSM4741025 c.2286_2288delGCA p.Q766delQ Deletion - In frame 19:36092764-36092766 + TCGA-BR-4363-01 COSM4077334 c.4457C>T p.P1486L Substitution - Missense 19:36104928-36104928 + TCGA-DR-A0ZM-01 COSM459976 c.4282G>C p.D1428H Substitution - Missense 19:36104661-36104661 + LOVO COSM3199456 c.2342C>T p.T781M Substitution - Missense 19:36094039-36094039 + TCGA-HU-A4H8-01 COSM4077323 c.1823G>A p.R608H Substitution - Missense 19:36089092-36089092 + ESCC-185T COSM3199441 c.1753G>A p.A585T Substitution - Missense 19:36086797-36086797 + HCC2998 COSM3199425 c.1183G>A p.G395S Substitution - Missense 19:36073481-36073481 + TCGA-BR-6452-01 COSM4077322 c.1642+2T>C p.? Unknown 19:36084746-36084746 + TCGA-BS-A0UV-01 COSM995379 c.4291C>T p.R1431C Substitution - Missense 19:36104670-36104670 + STC297 COSM5056562 c.3167_3169delAGG p.E1057delE Deletion - In frame 19:36102098-36102100 + I2L-P24Ta-Tumor-Organoid COSM4077331 c.3797C>T p.A1266V Substitution - Missense 19:36103640-36103640 + YUKADI COSM1712202 c.1873G>A p.V625I Substitution - Missense 19:36089221-36089221 + CSCC-41-T COSM4533854 c.2020G>A p.G674R Substitution - Missense 19:36090506-36090506 + TCGA-BR-4184-01 COSM4077308 c.347C>T p.A116V Substitution - Missense 19:36065972-36065972 + TCGA-AP-A051-01 COSM995362 c.1145G>T p.S382I Substitution - Missense 19:36073443-36073443 + LUAD-NYU284 COSM372939 c.2913G>T p.Q971H Substitution - Missense 19:36101259-36101259 + PD13166a COSM5800240 c.1866C>T p.T622T Substitution - coding silent 19:36089214-36089214 + YUWAND COSM1712201 c.1078C>T p.P360S Substitution - Missense 19:36073376-36073376 + TCGA-FS-A1ZD-06 COSM995375 c.3396C>T p.G1132G Substitution - coding silent 19:36103023-36103023 + TCGA-EJ-7125-01 COSM3672871 c.3838C>A p.L1280M Substitution - Missense 19:36103681-36103681 + SC_9010 COSM5571528 c.12A>G p.V4V Substitution - coding silent 19:36054983-36054983 + CSCC-7-T COSM4517366 c.3268_3269CC>AT p.P1090I Substitution - Missense 19:36102799-36102800 + TCGA-CM-4743-01 COSM3692688 c.4108G>A p.G1370S Substitution - Missense 19:36103951-36103951 + CSCC-31-T COSM4517196 c.2962_2963CC>TT p.P988L Substitution - Missense 19:36101308-36101309 + ZZUFHECRKL-G068T COSM4131728 c.2549T>C p.L850S Substitution - Missense 19:36099427-36099427 + 2492703 COSM5600853 c.1111C>T p.H371Y Substitution - Missense 19:36073409-36073409 + TCGA-66-2767-01 COSM711838 c.3512C>T p.T1171M Substitution - Missense 19:36103355-36103355 + OSCC-GB_00240111 COSM3712900 c.3552C>T p.P1184P Substitution - coding silent 19:36103395-36103395 + YUGURT COSM3199429 c.1274C>T p.S425L Substitution - Missense 19:36081473-36081473 + TCGA-21-5786-01 COSM711840 c.224G>T p.G75V Substitution - Missense 19:36058826-36058826 + HCC161 COSM3707075 c.1541G>T p.G514V Substitution - Missense 19:36083232-36083232 + TCGA-B5-A0JR-01 COSM995381 c.4474G>A p.A1492T Substitution - Missense 19:36104945-36104945 + T3336 COSM4741025 c.2286_2288delGCA p.Q766delQ Deletion - In frame 19:36092764-36092766 + TCGA-BR-4184-01 COSM4077326 c.2317C>T p.R773W Substitution - Missense 19:36092795-36092795 + T3658 COSM4741030 c.4280T>C p.L1427P Substitution - Missense 19:36104659-36104659 + 2492702 COSM5600853 c.1111C>T p.H371Y Substitution - Missense 19:36073409-36073409 + TCGA-EI-6917-01 COSM3199438 c.1535G>A p.R512Q Substitution - Missense 19:36083226-36083226 + TCGA-D1-A103-01 COSM995368 c.2622G>A p.K874K Substitution - coding silent 19:36099500-36099500 + PR-0415 COSM248330 c.903C>A p.L301L Substitution - coding silent 19:36071576-36071576 + C058 COSM5525825 c.2824C>T p.L942F Substitution - Missense 19:36100832-36100832 + TCGA-DA-A3F8-06 COSM337048 c.2473C>T p.R825C Substitution - Missense 19:36097032-36097032 + Gp2D COSM3199445 c.1816T>C p.Y606H Substitution - Missense 19:36089085-36089085 + P07-837 COSM248329 c.1695C>T p.N565N Substitution - coding silent 19:36086739-36086739 + TCGA-EE-A181-06 COSM3532867 c.425T>G p.V142G Substitution - Missense 19:36066291-36066291 + TCGA-BR-A4IY-01 COSM4077324 c.2075G>A p.C692Y Substitution - Missense 19:36091240-36091240 + TCGA-EA-A556-01 COSM4828648 c.2578C>G p.P860A Substitution - Missense 19:36099456-36099456 + 18 COSM5745401 c.3658C>T p.R1220C Substitution - Missense 19:36103501-36103501 + EV001-R9 COSM1161878 c.3742T>C p.S1248P Substitution - Missense 19:36103585-36103585 + HT115 COSM3199449 c.1991A>C p.K664T Substitution - Missense 19:36090477-36090477 + WA16 COSM238434 c.2604C>T p.A868A Substitution - coding silent 19:36099482-36099482 + TCGA-A6-6140-01 COSM3756682 c.3914A>T p.Q1305L Substitution - Missense 19:36103757-36103757 + TCGA-Q1-A73O-01 COSM4834073 c.3925G>A p.D1309N Substitution - Missense 19:36103768-36103768 + RK105_C01 COSM3199450 c.2111C>T p.S704L Substitution - Missense 19:36091276-36091276 + TCGA-AP-A051-01 COSM995365 c.1383G>T p.K461N Substitution - Missense 19:36083074-36083074 + TCGA-DJ-A13M-01 COSM3371278 c.862G>T p.E288* Substitution - Nonsense 19:36067990-36067990 + TCGA-EE-A183-06 COSM3532886 c.2574C>T p.Y858Y Substitution - coding silent 19:36099452-36099452 + CPCG0183-P2 COSM1129883 c.4155A>C p.L1385F Substitution - Missense 19:36104534-36104534 + SJOS001119_D1 COSM5023591 c.570C>T p.I190I Substitution - coding silent 19:36067314-36067314 + TCGA-BG-A0M8-01 COSM995371 c.2913G>A p.Q971Q Substitution - coding silent 19:36101259-36101259 + TCGA-B0-4694-01 COSM3362818 c.1621G>T p.E541* Substitution - Nonsense 19:36084723-36084723 + HCC161T COSM3707075 c.1541G>T p.G514V Substitution - Missense 19:36083232-36083232 + I2L-P19Tb-Tumor-Organoid COSM5365263 c.4093C>T p.P1365S Substitution - Missense 19:36103936-36103936 + T351 COSM4741026 c.2596G>C p.E866Q Substitution - Missense 19:36099474-36099474 + QC2-32-T2 COSM5654372 c.1470C>T p.D490D Substitution - coding silent 19:36083161-36083161 + TCGA-AP-A051-01 COSM995366 c.1822C>T p.R608C Substitution - Missense 19:36089091-36089091 + DLD1 COSM1680909 c.2963C>T p.P988L Substitution - Missense 19:36101309-36101309 + LS180 COSM4645982 c.2976G>A p.S992S Substitution - coding silent 19:36101668-36101668 + TCGA-DK-A1A5-01 COSM418309 c.922A>G p.I308V Substitution - Missense 19:36071595-36071595 + TCGA-G4-6588-01 COSM1393045 c.4420G>A p.A1474T Substitution - Missense 19:36104891-36104891 + TCGA-BR-4184-01 COSM4077333 c.4019G>A p.R1340H Substitution - Missense 19:36103862-36103862 + TCGA-BS-A0UV-01 COSM995360 c.798G>A p.A266A Substitution - coding silent 19:36067926-36067926 + CSCC-31-T COSM4494636 c.4355C>T p.S1452F Substitution - Missense 19:36104826-36104826 + TCGA-BS-A0UJ-01 COSM995378 c.4228A>G p.S1410G Substitution - Missense 19:36104607-36104607 + TCGA-G2-A3VY-01 COSM3796991 c.3250G>A p.E1084K Substitution - Missense 19:36102781-36102781 + TCGA-AU-6004-01 COSM1393038 c.1932C>T p.A644A Substitution - coding silent 19:36089280-36089280 + U2940 COSM995369 c.2674G>A p.E892K Substitution - Missense 19:36099552-36099552 + SNU-175 COSM3199502 c.4171C>T p.R1391C Substitution - Missense 19:36104550-36104550 + BD42T COSM5501788 c.2542G>A p.D848N Substitution - Missense 19:36099420-36099420 + TCGA-BH-A0HF-01 COSM3822795 c.1761G>A p.K587K Substitution - coding silent 19:36086805-36086805 + TCGA-B5-A11S-01 COSM995380 c.4402G>A p.G1468R Substitution - Missense 19:36104873-36104873 + I2L-P23-Tumor-Organoid COSM4741025 c.2286_2288delGCA p.Q766delQ Deletion - In frame 19:36092764-36092766 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.116244 19q13.12 613583

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.E231G c.692A>G 19 36558338 STAD A G Missense p.N457S c.1370A>G 19 36572471 CM A G SpliceAcceptorSNV . c.391-2A>G 19 36557157 LUSC A T Missense p.K452I c.1355A>T 19 36572456 LGG A T Missense p.Q611L c.1832A>T 19 36580003 LUAD A T Missense p.S404C c.1210A>T 19 36564410 LUAD A T SpliceAcceptorSNV . c.700-2A>T 19 36558728 LUAD A T Synonymous p.T237T c.711A>T 19 36558741 CM CA - Frameshift p.S1105*fs*1 c.3314_3315delCA 19 36593732 RCCC C A Missense p.A159E c.476C>A 19 36557244 HNSC C A Synonymous p.A70A c.210C>A 19 36549714 LUSC C A Synonymous p.T1270T c.3810C>A 19 36594540 SCLC CC TT Missense p.P1150L c.3448_3449delinsTT 19 36593962 CM CC TT Missense p.S1233F c.3698_3699delinsTT 19 36594428 CM C - Frameshift p.S1105Qfs*22 c.3312delC 19 36593730 RCCC C G Missense p.P1351A c.4051C>G 19 36594781 HNSC C T Missense p.H519Y c.1555C>T 19 36575559 CM C T Missense p.L337F c.1009C>T 19 36562584 CM C T Missense p.P1408L c.4223C>T 19 36595489 CM C T Missense p.P1491L c.4472C>T 19 36595830 STAD C T Missense p.P239S c.715C>T 19 36558745 UCEC C T Missense p.P414S c.1240C>T 19 36572341 CM C T Missense p.P479L c.1436C>T 19 36574029 CM C T Missense p.P917L c.2750C>T 19 36591660 CM C T Missense p.P988S c.2962C>T 19 36592210 CM C T Missense p.R825C c.2473C>T 19 36587934 CM C T Missense p.R825C c.2473C>T 19 36587934 LUAD C T Missense p.R863C c.2587C>T 19 36590367 STAD C T Missense p.R922C c.2764C>T 19 36591674 UCEC C T Missense p.S1049F c.3146C>T 19 36592979 CM C T Missense p.S1353F c.4058C>T 19 36594788 COREAD C T Missense p.S172F c.515C>T 19 36557283 CM C T Missense p.S704L c.2111C>T 19 36582178 PRAD C T Missense p.T1176M c.3527C>T 19 36594257 LUSC C T Missense p.T430I c.1289C>T 19 36572390 HNSC C T Nonsense p.R47* c.139C>T 19 36546012 LUSC C T Synonymous p.D525D c.1575C>T 19 36575579 STAD C T Synonymous p.F225F c.675C>T 19 36558321 HNSC C T Synonymous p.F927F c.2781C>T 19 36591691 CM C T Synonymous p.G1137G c.3411C>T 19 36593925 CM C T Synonymous p.I383I c.1149C>T 19 36564349 LUAD C T Synonymous p.L1104L c.3312C>T 19 36593730 STAD C T Synonymous p.L328L c.984C>T 19 36562559 HNSC C T Synonymous p.P872P c.2616C>T 19 36590396 CM C T Synonymous p.S675S c.2025C>T 19 36581413 CM C T Synonymous p.Y858Y c.2574C>T 19 36590354 CM - GAAGCC InFrameInsertion p.M889_K890insEA c.2667_2668insGAAGCC 19 36590447 LGG G A Missense p.E1089K c.3265G>A 19 36593683 HNSC G A Missense p.E484K c.1450G>A 19 36574043 BLCA G A Missense p.E915K c.2743G>A 19 36591653 BLCA G A Missense p.G1289D c.3866G>A 19 36594596 UCEC G A Missense p.G1473R c.4417G>A 19 36595775 UCEC G A Missense p.G494E c.1481G>A 19 36574074 RCCC G A Missense p.G795E c.2384G>A 19 36584983 BRCA G A Missense p.R1018Q c.3053G>A 19 36592647 UCEC G A Missense p.R1169H c.3506G>A 19 36594101 SCLC G A Synonymous p.Q971Q c.2913G>A 19 36592161 UCEC GCA - InFrameDeletion p.Q766delQ c.2298_2300delGCA 19 36583666 GBM GCA - InFrameDeletion p.Q766delQ c.2298_2300delGCA 19 36583666 THCA G C Missense p.G276A c.827G>C 19 36558857 STAD GG AA Missense p.R557Q c.1670_1671delinsAA 19 36577616 CM G T Missense p.G338W c.1012G>T 19 36562587 LUAD G T Missense p.G75V c.224G>T 19 36549728 LUSC G T Missense p.K1160N c.3480G>T 19 36594075 STAD G T Missense p.K354N c.1062G>T 19 36564262 UCEC G T Missense p.K855N c.2565G>T 19 36590345 LUAD G T Missense p.W186L c.557G>T 19 36557325 LUAD G T Nonsense p.E1333* c.3997G>T 19 36594727 STAD G T Nonsense p.E288* c.862G>T 19 36558892 THCA G T Nonsense p.E541* c.1621G>T 19 36575625 RCCC TCCTCTCAAGCC - InFrameDeletion p.L1104_L1107delLSSL c.3311_3322delTCTCAAGCCTCC 19 36593726 BRCA T C Synonymous p.H177H c.531T>C 19 36557299 STAD T G Missense p.L96W c.287T>G 19 36550887 HNSC T G Missense p.S375A c.1123T>G 19 36564323 NB T G Missense p.V142G c.425T>G 19 36557193 CM