Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 3 101049200 101049200 + Missense_Mutation SNP G G C TCGA-XF-A9T6-01A-11D-A42E-08 TCGA-XF-A9T6-10A-01D-A42H-08 g.chr3:101049200G>C c.2729C>G c.(2728-2730)tCt>tGt p.S910C BLCA 3 101049231 101049231 + Splice_Site SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 g.chr3:101049231C>G c.e20-1 BLCA 3 101060534 101060534 + Silent SNP T T C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 g.chr3:101060534T>C c.2196A>G c.(2194-2196)ccA>ccG p.P732P BLCA 3 101060619 101060619 + Nonsense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 g.chr3:101060619G>C c.2111C>G c.(2110-2112)tCa>tGa p.S704* BLCA 3 101062549 101062549 + Frame_Shift_Del DEL T T - TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 g.chr3:101062549delT c.2087delA c.(2086-2088)aagfs p.K696fs BLCA 3 101085424 101085424 + Missense_Mutation SNP T T C TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr3:101085424T>C c.1168A>G c.(1168-1170)Acc>Gcc p.T390A BLCA 3 101085458 101085458 + Missense_Mutation SNP C C G TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 g.chr3:101085458C>G c.1134G>C c.(1132-1134)ttG>ttC p.L378F BLCA 3 101086821 101086821 + Silent SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr3:101086821G>A c.831C>T c.(829-831)ctC>ctT p.L277L BLCA 3 101136502 101136502 + Silent SNP A A G TCGA-4Z-AA7Q-01A-11D-A391-08 TCGA-4Z-AA7Q-10A-01D-A394-08 g.chr3:101136502A>G c.417T>C c.(415-417)tcT>tcC p.S139S BLCA 3 101136554 101136554 + Missense_Mutation SNP G G C TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr3:101136554G>C c.365C>G c.(364-366)gCt>gGt p.A122G BLCA 3 101212742 101212742 + Nonsense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr3:101212742G>C c.161C>G c.(160-162)tCa>tGa p.S54* BLCA 3 101212807 101212807 + Silent SNP T T C TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 g.chr3:101212807T>C c.96A>G c.(94-96)agA>agG p.R32R BRCA 3 101046516 101046516 + Missense_Mutation SNP G G T TCGA-AR-A2LE-01A-11D-A17W-09 TCGA-AR-A2LE-10A-01D-A17W-09 g.chr3:101046516G>T c.3009C>A c.(3007-3009)ttC>ttA p.F1003L BRCA 3 101046584 101046584 + Missense_Mutation SNP G G A TCGA-AN-A0FW-01A-11W-A050-09 TCGA-AN-A0FW-10A-01W-A055-09 g.chr3:101046584G>A c.2941C>T c.(2941-2943)Cct>Tct p.P981S BRCA 3 101056428 101056428 + Missense_Mutation SNP T T G TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr3:101056428T>G c.2405A>C c.(2404-2406)cAc>cCc p.H802P BRCA 3 101062691 101062691 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr3:101062691A>G c.1945T>C c.(1945-1947)Tta>Cta p.L649L BRCA 3 101083788 101083788 + Nonsense_Mutation SNP C C A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr3:101083788C>A c.1366G>T c.(1366-1368)Gaa>Taa p.E456* BRCA 3 101083810 101083810 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr3:101083810T>C c.1344A>G c.(1342-1344)ggA>ggG p.G448G BRCA 3 101136588 101136588 + Missense_Mutation SNP G G C TCGA-AR-A0U2-01A-11D-A10G-09 TCGA-AR-A0U2-10A-01D-A10G-09 g.chr3:101136588G>C c.331C>G c.(331-333)Cga>Gga p.R111G BRCA 3 101212728 101212728 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 g.chr3:101212728G>C c.175C>G c.(175-177)Ctc>Gtc p.L59V CESC 3 101044797 101044797 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chr3:101044797C>T c.3143G>A c.(3142-3144)aGc>aAc p.S1048N CESC 3 101046647 101046647 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr3:101046647C>G c.2878G>C c.(2878-2880)Gag>Cag p.E960Q CESC 3 101056409 101056409 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 g.chr3:101056409G>C c.2424C>G c.(2422-2424)ttC>ttG p.F808L CHOL 3 101049208 101049208 + Silent SNP C C A TCGA-W5-AA31-01A-11D-A417-09 TCGA-W5-AA31-10A-01D-A41A-09 g.chr3:101049208C>A c.2721G>T c.(2719-2721)tcG>tcT p.S907S COAD 3 101044796 101044796 + Silent SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr3:101044796G>A c.3144C>T c.(3142-3144)agC>agT p.S1048S COAD 3 101044860 101044860 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:101044860T>G c.3080A>C c.(3079-3081)aAg>aCg p.K1027T COAD 3 101044881 101044881 + Missense_Mutation SNP C C A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr3:101044881C>A c.3059G>T c.(3058-3060)tGg>tTg p.W1020L COAD 3 101047326 101047326 + Nonsense_Mutation SNP G G A TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr3:101047326G>A c.2860C>T c.(2860-2862)Cga>Tga p.R954* COAD 3 101051652 101051652 + Missense_Mutation SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:101051652A>C c.2535T>G c.(2533-2535)atT>atG p.I845M COAD 3 101051657 101051657 + Missense_Mutation SNP T T G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:101051657T>G c.2530A>C c.(2530-2532)Aac>Cac p.N844H COAD 3 101060567 101060567 + Silent SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr3:101060567G>A c.2163C>T c.(2161-2163)agC>agT p.S721S COAD 3 101062555 101062555 + Missense_Mutation SNP T T C TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr3:101062555T>C c.2081A>G c.(2080-2082)gAa>gGa p.E694G COAD 3 101062576 101062576 + Missense_Mutation SNP G G T TCGA-AA-3818-01A-01W-0900-09 TCGA-AA-3818-10A-01W-0900-09 g.chr3:101062576G>T c.2060C>A c.(2059-2061)gCt>gAt p.A687D COAD 3 101062707 101062707 + Silent SNP A A G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:101062707A>G c.1929T>C c.(1927-1929)agT>agC p.S643S COAD 3 101066796 101066796 + Missense_Mutation SNP G G A TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr3:101066796G>A c.1757C>T c.(1756-1758)gCt>gTt p.A586V COAD 3 101080583 101080583 + Silent SNP T T C TCGA-AA-3496-01A-21D-1835-10 TCGA-AA-3496-11A-01D-1835-10 g.chr3:101080583T>C c.1599A>G c.(1597-1599)aaA>aaG p.K533K COAD 3 101080583 101080583 + Silent SNP T T C TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr3:101080583T>C c.1599A>G c.(1597-1599)aaA>aaG p.K533K COAD 3 101083676 101083676 + Splice_Site SNP A A G TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr3:101083676A>G c.e10+1 COAD 3 101083770 101083770 + Missense_Mutation SNP A A G TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr3:101083770A>G c.1384T>C c.(1384-1386)Tct>Cct p.S462P COAD 3 101086677 101086677 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:101086677C>T c.975G>A c.(973-975)caG>caA p.Q325Q COAD 3 101086699 101086699 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:101086699G>T c.953C>A c.(952-954)tCt>tAt p.S318Y COAD 3 101090959 101090959 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:101090959C>T c.689G>A c.(688-690)cGa>cAa p.R230Q COAD 3 101090959 101090959 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr3:101090959C>T c.689G>A c.(688-690)cGa>cAa p.R230Q COAD 3 101117802 101117802 + Missense_Mutation SNP C C T TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr3:101117802C>T c.580G>A c.(580-582)Gac>Aac p.D194N COAD 3 101136588 101136588 + Nonsense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr3:101136588G>A c.331C>T c.(331-333)Cga>Tga p.R111* COAD 3 101136589 101136589 + Silent SNP T T A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr3:101136589T>A c.330A>T c.(328-330)ggA>ggT p.G110G COADREAD 3 101044796 101044796 + Silent SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr3:101044796G>A c.3144C>T c.(3142-3144)agC>agT p.S1048S COADREAD 3 101044860 101044860 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:101044860T>G c.3080A>C c.(3079-3081)aAg>aCg p.K1027T COADREAD 3 101044881 101044881 + Missense_Mutation SNP C C A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr3:101044881C>A c.3059G>T c.(3058-3060)tGg>tTg p.W1020L COADREAD 3 101046585 101046585 + Silent SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr3:101046585G>A c.2940C>T c.(2938-2940)tgC>tgT p.C980C COADREAD 3 101047326 101047326 + Nonsense_Mutation SNP G G A TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr3:101047326G>A c.2860C>T c.(2860-2862)Cga>Tga p.R954* COADREAD 3 101049208 101049208 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:101049208C>T c.2721G>A c.(2719-2721)tcG>tcA p.S907S COADREAD 3 101051652 101051652 + Missense_Mutation SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:101051652A>C c.2535T>G c.(2533-2535)atT>atG p.I845M COADREAD 3 101051657 101051657 + Missense_Mutation SNP T T G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:101051657T>G c.2530A>C c.(2530-2532)Aac>Cac p.N844H COADREAD 3 101056353 101056353 + Splice_Site SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:101056353G>A c.2480C>T c.(2479-2481)tCa>tTa p.S827L COADREAD 3 101060567 101060567 + Silent SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr3:101060567G>A c.2163C>T c.(2161-2163)agC>agT p.S721S COADREAD 3 101062555 101062555 + Missense_Mutation SNP T T C TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr3:101062555T>C c.2081A>G c.(2080-2082)gAa>gGa p.E694G COADREAD 3 101062576 101062576 + Missense_Mutation SNP G G T TCGA-AA-3818-01A-01W-0900-09 TCGA-AA-3818-10A-01W-0900-09 g.chr3:101062576G>T c.2060C>A c.(2059-2061)gCt>gAt p.A687D COADREAD 3 101062707 101062707 + Silent SNP A A G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:101062707A>G c.1929T>C c.(1927-1929)agT>agC p.S643S COADREAD 3 101062792 101062792 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:101062792G>T c.1844C>A c.(1843-1845)tCt>tAt p.S615Y COADREAD 3 101066780 101066780 + Nonsense_Mutation SNP C C T TCGA-AG-3578-01A-01W-0831-10 TCGA-AG-3578-10A-01W-0831-10 g.chr3:101066780C>T c.1773G>A c.(1771-1773)tgG>tgA p.W591* COADREAD 3 101066796 101066796 + Missense_Mutation SNP G G A TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr3:101066796G>A c.1757C>T c.(1756-1758)gCt>gTt p.A586V COADREAD 3 101080583 101080583 + Silent SNP T T C TCGA-AA-3496-01A-21D-1835-10 TCGA-AA-3496-11A-01D-1835-10 g.chr3:101080583T>C c.1599A>G c.(1597-1599)aaA>aaG p.K533K COADREAD 3 101080583 101080583 + Silent SNP T T C TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr3:101080583T>C c.1599A>G c.(1597-1599)aaA>aaG p.K533K COADREAD 3 101083676 101083676 + Splice_Site SNP A A G TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr3:101083676A>G c.e10+1 COADREAD 3 101083770 101083770 + Missense_Mutation SNP A A G TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr3:101083770A>G c.1384T>C c.(1384-1386)Tct>Cct p.S462P COADREAD 3 101085353 101085353 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:101085353C>A c.1239G>T c.(1237-1239)gaG>gaT p.E413D COADREAD 3 101086677 101086677 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:101086677C>T c.975G>A c.(973-975)caG>caA p.Q325Q COADREAD 3 101086699 101086699 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:101086699G>T c.953C>A c.(952-954)tCt>tAt p.S318Y COADREAD 3 101086821 101086821 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:101086821G>A c.831C>T c.(829-831)ctC>ctT p.L277L COADREAD 3 101090959 101090959 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:101090959C>T c.689G>A c.(688-690)cGa>cAa p.R230Q COADREAD 3 101090959 101090959 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr3:101090959C>T c.689G>A c.(688-690)cGa>cAa p.R230Q COADREAD 3 101117802 101117802 + Missense_Mutation SNP C C T TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr3:101117802C>T c.580G>A c.(580-582)Gac>Aac p.D194N COADREAD 3 101136588 101136588 + Nonsense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr3:101136588G>A c.331C>T c.(331-333)Cga>Tga p.R111* COADREAD 3 101136589 101136589 + Silent SNP T T A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr3:101136589T>A c.330A>T c.(328-330)ggA>ggT p.G110G DLBC 3 101090924 101090924 + Missense_Mutation SNP T T A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr3:101090924T>A c.724A>T c.(724-726)Act>Tct p.T242S DLBC 3 101090925 101090925 + Missense_Mutation SNP C C A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr3:101090925C>A c.723G>T c.(721-723)caG>caT p.Q241H ESCA 3 101056352 101056352 + Splice_Site SNP C C T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 g.chr3:101056352C>T c.e17+1 ESCA 3 101059041 101059041 + Missense_Mutation SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 g.chr3:101059041G>T c.2255C>A c.(2254-2256)cCt>cAt p.P752H ESCA 3 101085489 101085489 + Missense_Mutation SNP A A G TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 g.chr3:101085489A>G c.1103T>C c.(1102-1104)cTa>cCa p.L368P ESCA 3 101090887 101090887 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 g.chr3:101090887C>T c.761G>A c.(760-762)gGc>gAc p.G254D GBM 3 101046635 101046635 + Missense_Mutation SNP T T C TCGA-74-6584-01A-11D-1845-08 TCGA-74-6584-10A-01D-1845-08 g.chr3:101046635T>C c.2890A>G c.(2890-2892)Aaa>Gaa p.K964E GBM 3 101080632 101080632 + Missense_Mutation SNP T T G TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 g.chr3:101080632T>G c.1550A>C c.(1549-1551)gAt>gCt p.D517A GBM 3 101136587 101136587 + Missense_Mutation SNP C C T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 g.chr3:101136587C>T c.332G>A c.(331-333)cGa>cAa p.R111Q GBMLGG 3 101046635 101046635 + Missense_Mutation SNP T T C TCGA-74-6584-01A-11D-1845-08 TCGA-74-6584-10A-01D-1845-08 g.chr3:101046635T>C c.2890A>G c.(2890-2892)Aaa>Gaa p.K964E GBMLGG 3 101080632 101080632 + Missense_Mutation SNP T T G TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 g.chr3:101080632T>G c.1550A>C c.(1549-1551)gAt>gCt p.D517A GBMLGG 3 101090887 101090887 + Missense_Mutation SNP C C T TCGA-S9-A7QY-01A-11D-A34A-08 TCGA-S9-A7QY-10A-01D-A34A-08 g.chr3:101090887C>T c.761G>A c.(760-762)gGc>gAc p.G254D GBMLGG 3 101136587 101136587 + Missense_Mutation SNP C C T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 g.chr3:101136587C>T c.332G>A c.(331-333)cGa>cAa p.R111Q GBMLGG 3 101177814 101177814 + Missense_Mutation SNP T T G TCGA-E1-5303-01A-01D-1468-08 TCGA-E1-5303-10A-01D-1468-08 g.chr3:101177814T>G c.269A>C c.(268-270)aAg>aCg p.K90T HNSC 3 101059042 101059042 + Missense_Mutation SNP G G A TCGA-H7-A6C5-01A-11D-A30E-08 TCGA-H7-A6C5-10A-01D-A30H-08 g.chr3:101059042G>A c.2254C>T c.(2254-2256)Cct>Tct p.P752S HNSC 3 101066766 101066766 + Missense_Mutation SNP T T C TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 g.chr3:101066766T>C c.1787A>G c.(1786-1788)tAt>tGt p.Y596C HNSC 3 101090902 101090902 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 g.chr3:101090902C>T c.746G>A c.(745-747)cGa>cAa p.R249Q KIPAN 3 101060582 101060582 + Silent SNP C C A TCGA-BP-5178-01A-01D-1429-08 TCGA-BP-5178-11A-01D-1429-08 g.chr3:101060582C>A c.2148G>T c.(2146-2148)ctG>ctT p.L716L KIPAN 3 101090968 101090968 + Frame_Shift_Del DEL C C - TCGA-CW-6093-01A-11D-1669-08 TCGA-CW-6093-11A-01D-1669-08 g.chr3:101090968delC c.680delG c.(679-681)ggcfs p.G227fs KIRC 3 101060582 101060582 + Silent SNP C C A TCGA-BP-5178-01A-01D-1429-08 TCGA-BP-5178-11A-01D-1429-08 g.chr3:101060582C>A c.2148G>T c.(2146-2148)ctG>ctT p.L716L KIRC 3 101090968 101090968 + Frame_Shift_Del DEL C C - TCGA-CW-6093-01A-11D-1669-08 TCGA-CW-6093-11A-01D-1669-08 g.chr3:101090968delC c.680delG c.(679-681)ggcfs p.G227fs LAML 3 101136588 101136588 + Nonsense_Mutation SNP G G A TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 g.chr3:101136588G>A c.331C>T c.(331-333)Cga>Tga p.R111* LGG 3 101090887 101090887 + Missense_Mutation SNP C C T TCGA-S9-A7QY-01A-11D-A34A-08 TCGA-S9-A7QY-10A-01D-A34A-08 g.chr3:101090887C>T c.761G>A c.(760-762)gGc>gAc p.G254D LGG 3 101177814 101177814 + Missense_Mutation SNP T T G TCGA-E1-5303-01A-01D-1468-08 TCGA-E1-5303-10A-01D-1468-08 g.chr3:101177814T>G c.269A>C c.(268-270)aAg>aCg p.K90T LIHC 3 101051684 101051684 + Frame_Shift_Del DEL T T - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr3:101051684delT c.2503delA c.(2503-2505)agafs p.R835fs LIHC 3 101058948 101058948 + Missense_Mutation SNP A A T TCGA-G3-A6UC-01A-21D-A33K-10 TCGA-G3-A6UC-10A-01D-A33K-10 g.chr3:101058948A>T c.2348T>A c.(2347-2349)tTt>tAt p.F783Y LIHC 3 101059023 101059023 + Missense_Mutation SNP C C A TCGA-DD-AAE9-01A-11D-A40R-10 TCGA-DD-AAE9-10A-01D-A40U-10 g.chr3:101059023C>A c.2273G>T c.(2272-2274)gGg>gTg p.G758V LIHC 3 101090875 101090875 + Frame_Shift_Del DEL A A - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr3:101090875delA c.773delT c.(772-774)ttafs p.L258fs LIHC 3 101136470 101136470 + Missense_Mutation SNP T T C TCGA-UB-A7MC-01A-11D-A33Q-10 TCGA-UB-A7MC-10A-01D-A33Q-10 g.chr3:101136470T>C c.449A>G c.(448-450)gAa>gGa p.E150G LUAD 3 101044921 101044921 + Missense_Mutation SNP G G C TCGA-44-8119-01A-11D-2238-08 TCGA-44-8119-10A-01D-2238-08 g.chr3:101044921G>C c.3019C>G c.(3019-3021)Cct>Gct p.P1007A LUAD 3 101046534 101046534 + Missense_Mutation SNP C C A TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr3:101046534C>A c.2991G>T c.(2989-2991)ttG>ttT p.L997F LUAD 3 101047363 101047363 + Missense_Mutation SNP C C A TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr3:101047363C>A c.2823G>T c.(2821-2823)ttG>ttT p.L941F LUAD 3 101047372 101047372 + Silent SNP T T A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 g.chr3:101047372T>A c.2814A>T c.(2812-2814)ctA>ctT p.L938L LUAD 3 101047391 101047391 + Splice_Site SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr3:101047391C>A c.e22-1 LUAD 3 101049218 101049218 + Missense_Mutation SNP C C A TCGA-69-7764-01A-11D-2167-08 TCGA-69-7764-10A-01D-2167-08 g.chr3:101049218C>A c.2711G>T c.(2710-2712)cGt>cTt p.R904L LUAD 3 101050843 101050843 + Missense_Mutation SNP T T C TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 g.chr3:101050843T>C c.2684A>G c.(2683-2685)gAc>gGc p.D895G LUAD 3 101056447 101056447 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr3:101056447C>T c.2386G>A c.(2386-2388)Gaa>Aaa p.E796K LUAD 3 101058994 101058994 + Missense_Mutation SNP C C G TCGA-17-Z010-01A-01W-0746-08 TCGA-17-Z010-11A-01W-0746-08 g.chr3:101058994C>G c.2302G>C c.(2302-2304)Gag>Cag p.E768Q LUAD 3 101059014 101059014 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr3:101059014C>A c.2282G>T c.(2281-2283)gGa>gTa p.G761V LUAD 3 101060531 101060531 + Silent SNP A A G TCGA-69-7764-01A-11D-2167-08 TCGA-69-7764-10A-01D-2167-08 g.chr3:101060531A>G c.2199T>C c.(2197-2199)gaT>gaC p.D733D LUAD 3 101060619 101060619 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 g.chr3:101060619G>A c.2111C>T c.(2110-2112)tCa>tTa p.S704L LUAD 3 101080669 101080669 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 g.chr3:101080669C>G c.1513G>C c.(1513-1515)Gag>Cag p.E505Q LUAD 3 101080669 101080669 + Nonsense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 g.chr3:101080669C>A c.1513G>T c.(1513-1515)Gag>Tag p.E505* LUAD 3 101080689 101080689 + Missense_Mutation SNP C C T TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr3:101080689C>T c.1493G>A c.(1492-1494)tGc>tAc p.C498Y LUAD 3 101083731 101083731 + Missense_Mutation SNP T T A TCGA-78-8655-01A-11D-2393-08 TCGA-78-8655-10A-01D-2393-08 g.chr3:101083731T>A c.1423A>T c.(1423-1425)Act>Tct p.T475S LUAD 3 101090930 101090930 + Missense_Mutation SNP T T G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 g.chr3:101090930T>G c.718A>C c.(718-720)Aag>Cag p.K240Q LUAD 3 101231937 101231937 + Missense_Mutation SNP G G A TCGA-55-8301-01A-11D-2284-08 TCGA-55-8301-10A-01D-2284-08 g.chr3:101231937G>A c.38C>T c.(37-39)tCc>tTc p.S13F LUAD 3 101231956 101231956 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chr3:101231956C>G c.19G>C c.(19-21)Ggg>Cgg p.G7R LUSC 3 101044876 101044876 + Missense_Mutation SNP G G T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 g.chr3:101044876G>T c.3064C>A c.(3064-3066)Cct>Act p.P1022T LUSC 3 101051624 101051624 + Missense_Mutation SNP C C A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr3:101051624C>A c.2563G>T c.(2563-2565)Gta>Tta p.V855L LUSC 3 101062529 101062529 + Splice_Site SNP C C A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 g.chr3:101062529C>A c.e14+1 LUSC 3 101086710 101086710 + Silent SNP T T C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 g.chr3:101086710T>C c.942A>G c.(940-942)caA>caG p.Q314Q LUSC 3 101117745 101117745 + Missense_Mutation SNP G G C TCGA-34-2600-01A-01D-1522-08 TCGA-34-2600-11A-01D-1522-08 g.chr3:101117745G>C c.637C>G c.(637-639)Caa>Gaa p.Q213E OV 3 101050938 101050938 + Silent SNP G G A TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 g.chr3:101050938G>A c.2589C>T c.(2587-2589)ctC>ctT p.L863L OV 3 101080585 101080585 + Nonsense_Mutation SNP T T A TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 g.chr3:101080585T>A c.1597A>T c.(1597-1599)Aaa>Taa p.K533* OV 3 101085490 101085490 + Silent SNP G G A TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 g.chr3:101085490G>A c.1102C>T c.(1102-1104)Cta>Tta p.L368L OV 3 101177799 101177799 + Splice_Site SNP C C T TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 g.chr3:101177799C>T c.284G>A c.(283-285)aGg>aAg p.R95K PAAD 3 101047326 101047326 + Nonsense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:101047326G>A c.2860C>T c.(2860-2862)Cga>Tga p.R954* PAAD 3 101047522 101047522 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:101047522C>T c.2763G>A c.(2761-2763)tcG>tcA p.S921S PAAD 3 101085608 101085608 + Silent SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:101085608T>C c.984A>G c.(982-984)aaA>aaG p.K328K PAAD 3 101090890 101090890 + Missense_Mutation SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:101090890T>G c.758A>C c.(757-759)gAt>gCt p.D253A PAAD 3 101136544 101136544 + Missense_Mutation SNP A A C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:101136544A>C c.375T>G c.(373-375)tgT>tgG p.C125W PAAD 3 101177867 101177867 + Silent SNP G G A TCGA-FZ-5923-01A-12D-1609-08 TCGA-FZ-5923-11A-01D-1609-08 g.chr3:101177867G>A c.216C>T c.(214-216)atC>atT p.I72I PAAD 3 101231946 101231946 + Missense_Mutation SNP G G C TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 g.chr3:101231946G>C c.29C>G c.(28-30)cCa>cGa p.P10R PRAD 3 101047392 101047392 + Splice_Site SNP T T C TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 g.chr3:101047392T>C c.e22-2 PRAD 3 101049201 101049201 + Missense_Mutation SNP A A G TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 g.chr3:101049201A>G c.2728T>C c.(2728-2730)Tct>Cct p.S910P PRAD 3 101060605 101060605 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 g.chr3:101060605C>T c.2125G>A c.(2125-2127)Gcc>Acc p.A709T PRAD 3 101085438 101085438 + Missense_Mutation SNP G G T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:101085438G>T c.1154C>A c.(1153-1155)gCc>gAc p.A385D PRAD 3 101086791 101086800 + Frame_Shift_Del DEL TTTAACATCC TTTAACATCC - TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 g.chr3:101086791_101086800delTTTAACATCC c.852_861delGGATGTTAAA c.(850-861)aaggatgttaaafs p.KDVK284fs READ 3 101046585 101046585 + Silent SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr3:101046585G>A c.2940C>T c.(2938-2940)tgC>tgT p.C980C READ 3 101049208 101049208 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:101049208C>T c.2721G>A c.(2719-2721)tcG>tcA p.S907S READ 3 101056353 101056353 + Splice_Site SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:101056353G>A c.2480C>T c.(2479-2481)tCa>tTa p.S827L READ 3 101062792 101062792 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:101062792G>T c.1844C>A c.(1843-1845)tCt>tAt p.S615Y READ 3 101066780 101066780 + Nonsense_Mutation SNP C C T TCGA-AG-3578-01A-01W-0831-10 TCGA-AG-3578-10A-01W-0831-10 g.chr3:101066780C>T c.1773G>A c.(1771-1773)tgG>tgA p.W591* READ 3 101085353 101085353 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:101085353C>A c.1239G>T c.(1237-1239)gaG>gaT p.E413D READ 3 101086821 101086821 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:101086821G>A c.831C>T c.(829-831)ctC>ctT p.L277L SARC 3 101083777 101083777 + Missense_Mutation SNP C C G TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 g.chr3:101083777C>G c.1377G>C c.(1375-1377)aaG>aaC p.K459N SKCM 3 101044876 101044876 + Missense_Mutation SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr3:101044876G>A c.3064C>T c.(3064-3066)Cct>Tct p.P1022S SKCM 3 101044894 101044894 + Missense_Mutation SNP G G A TCGA-FS-A1ZF-06A-12D-A197-08 TCGA-FS-A1ZF-10A-01D-A199-08 g.chr3:101044894G>A c.3046C>T c.(3046-3048)Cat>Tat p.H1016Y SKCM 3 101044921 101044921 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr3:101044921G>A c.3019C>T c.(3019-3021)Cct>Tct p.P1007S SKCM 3 101044924 101044924 + Splice_Site SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr3:101044924C>T c.3016G>A c.(3016-3018)Gat>Aat p.D1006N SKCM 3 101049186 101049186 + Missense_Mutation SNP C C T TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr3:101049186C>T c.2743G>A c.(2743-2745)Gat>Aat p.D915N SKCM 3 101056353 101056353 + Splice_Site SNP G G A TCGA-D3-A51J-06A-11D-A25O-08 TCGA-D3-A51J-10A-01D-A25O-08 g.chr3:101056353G>A c.2480C>T c.(2479-2481)tCa>tTa p.S827L SKCM 3 101056363 101056363 + Missense_Mutation SNP G G A TCGA-ER-A19E-06A-11D-A197-08 TCGA-ER-A19E-10A-01D-A199-08 g.chr3:101056363G>A c.2470C>T c.(2470-2472)Cca>Tca p.P824S SKCM 3 101058952 101058952 + Missense_Mutation SNP C C G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr3:101058952C>G c.2344G>C c.(2344-2346)Gat>Cat p.D782H SKCM 3 101059023 101059023 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 g.chr3:101059023C>T c.2273G>A c.(2272-2274)gGg>gAg p.G758E SKCM 3 101060585 101060585 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:101060585G>A c.2145C>T c.(2143-2145)ttC>ttT p.F715F SKCM 3 101062652 101062652 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr3:101062652G>A c.1984C>T c.(1984-1986)Cct>Tct p.P662S SKCM 3 101062675 101062675 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr3:101062675G>A c.1961C>T c.(1960-1962)cCg>cTg p.P654L SKCM 3 101062676 101062676 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr3:101062676G>A c.1960C>T c.(1960-1962)Ccg>Tcg p.P654S SKCM 3 101062792 101062792 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr3:101062792G>A c.1844C>T c.(1843-1845)tCt>tTt p.S615F SKCM 3 101066822 101066822 + Missense_Mutation SNP A A T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr3:101066822A>T c.1731T>A c.(1729-1731)gaT>gaA p.D577E SKCM 3 101086763 101086763 + Silent SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr3:101086763G>A c.889C>T c.(889-891)Ctg>Ttg p.L297L SKCM 3 101086823 101086823 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:101086823G>A c.829C>T c.(829-831)Ctc>Ttc p.L277F SKCM 3 101086844 101086844 + Missense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr3:101086844C>T c.808G>A c.(808-810)Gga>Aga p.G270R SKCM 3 101090866 101090866 + Missense_Mutation SNP T T C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr3:101090866T>C c.782A>G c.(781-783)gAt>gGt p.D261G SKCM 3 101090875 101090875 + Nonsense_Mutation SNP A A T TCGA-EE-A2GM-06B-11D-A196-08 TCGA-EE-A2GM-10A-01D-A198-08 g.chr3:101090875A>T c.773T>A c.(772-774)tTa>tAa p.L258* SKCM 3 101117834 101117834 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:101117834G>A c.548C>T c.(547-549)cCa>cTa p.P183L SKCM 3 101136570 101136570 + Silent SNP G G A TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr3:101136570G>A c.349C>T c.(349-351)Cta>Tta p.L117L SKCM 3 101219918 101219918 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr3:101219918G>A c.86C>T c.(85-87)tCg>tTg p.S29L

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 3 101044763 101044763 single base substitution C G 3_prime_UTR_variant BLCA-US 3 101038512 101038512 single base substitution G A downstream_gene_variant BLCA-US 3 101060534 101060534 single base substitution T C synonymous_variant P568P 1704A>G BLCA-US 3 101060534 101060534 single base substitution T C synonymous_variant P666P 1998A>G BLCA-US 3 101060534 101060534 single base substitution T C synonymous_variant P667P 2001A>G BLCA-US 3 101060534 101060534 single base substitution T C synonymous_variant P699P 2097A>G BLCA-US 3 101060534 101060534 single base substitution T C synonymous_variant P732P 2196A>G BLCA-US 3 101060534 101060534 single base substitution T C upstream_gene_variant BLCA-US 3 101060619 101060619 single base substitution G C stop_gained S540* 1619C>G BLCA-US 3 101060619 101060619 single base substitution G C stop_gained S638* 1913C>G BLCA-US 3 101060619 101060619 single base substitution G C stop_gained S639* 1916C>G BLCA-US 3 101060619 101060619 single base substitution G C stop_gained S671* 2012C>G BLCA-US 3 101060619 101060619 single base substitution G C stop_gained S704* 2111C>G BLCA-US 3 101060619 101060619 single base substitution G C upstream_gene_variant BLCA-US 3 101085458 101085458 single base substitution C G missense_variant L214F 642G>C BLCA-US 3 101085458 101085458 single base substitution C G missense_variant L312F 936G>C BLCA-US 3 101085458 101085458 single base substitution C G missense_variant L313F 939G>C BLCA-US 3 101085458 101085458 single base substitution C G missense_variant L345F 1035G>C BLCA-US 3 101085458 101085458 single base substitution C G missense_variant L378F 1134G>C BLCA-US 3 101212807 101212807 single base substitution T C 5_prime_UTR_variant BLCA-US 3 101212807 101212807 single base substitution T C synonymous_variant R32R 96A>G BRCA-EU 3 101041383 101041383 single base substitution T C downstream_gene_variant BRCA-EU 3 101042461 101042461 insertion of <=200bp - A downstream_gene_variant BRCA-EU 3 101043142 101043142 single base substitution T C 3_prime_UTR_variant BRCA-EU 3 101043142 101043142 single base substitution T C downstream_gene_variant BRCA-EU 3 101043636 101043636 single base substitution A G 3_prime_UTR_variant BRCA-EU 3 101043636 101043636 single base substitution A G downstream_gene_variant BRCA-EU 3 101043674 101043674 single base substitution A G 3_prime_UTR_variant BRCA-EU 3 101043674 101043674 single base substitution A G downstream_gene_variant BRCA-EU 3 101045103 101045103 single base substitution A G intron_variant BRCA-EU 3 101045429 101045429 single base substitution C T intron_variant BRCA-EU 3 101047266 101047266 single base substitution C G intron_variant BRCA-EU 3 101048136 101048136 single base substitution C T intron_variant BRCA-EU 3 101048331 101048331 single base substitution A T intron_variant BRCA-EU 3 101049095 101049095 single base substitution C T intron_variant BRCA-EU 3 101050589 101050589 single base substitution G C intron_variant BRCA-EU 3 101052661 101052661 single base substitution G T downstream_gene_variant BRCA-EU 3 101052661 101052661 single base substitution G T intron_variant BRCA-EU 3 101052661 101052661 single base substitution G T upstream_gene_variant BRCA-EU 3 101052940 101052940 single base substitution C G downstream_gene_variant BRCA-EU 3 101052940 101052940 single base substitution C G intron_variant BRCA-EU 3 101052940 101052940 single base substitution C G upstream_gene_variant BRCA-EU 3 101053305 101053305 single base substitution T C downstream_gene_variant BRCA-EU 3 101053305 101053305 single base substitution T C intron_variant BRCA-EU 3 101053305 101053305 single base substitution T C upstream_gene_variant BRCA-EU 3 101054475 101054475 single base substitution C G downstream_gene_variant BRCA-EU 3 101054475 101054475 single base substitution C G intron_variant BRCA-EU 3 101054475 101054475 single base substitution C G upstream_gene_variant BRCA-EU 3 101057110 101057110 single base substitution G C intron_variant BRCA-EU 3 101057110 101057110 single base substitution G C upstream_gene_variant BRCA-EU 3 101057282 101057282 single base substitution A G intron_variant BRCA-EU 3 101059884 101059884 single base substitution A G intron_variant BRCA-EU 3 101059884 101059884 single base substitution A G upstream_gene_variant BRCA-EU 3 101060126 101060126 single base substitution T A intron_variant BRCA-EU 3 101060126 101060126 single base substitution T A upstream_gene_variant BRCA-EU 3 101060933 101060933 single base substitution A C intron_variant BRCA-EU 3 101060933 101060933 single base substitution A C upstream_gene_variant BRCA-EU 3 101061399 101061399 single base substitution C A downstream_gene_variant BRCA-EU 3 101061399 101061399 single base substitution C A intron_variant BRCA-EU 3 101061399 101061399 single base substitution C A upstream_gene_variant BRCA-EU 3 101063103 101063103 single base substitution A G downstream_gene_variant BRCA-EU 3 101063103 101063103 single base substitution A G intron_variant BRCA-EU 3 101063103 101063103 single base substitution A G upstream_gene_variant BRCA-EU 3 101063757 101063757 single base substitution A C downstream_gene_variant BRCA-EU 3 101063757 101063757 single base substitution A C intron_variant BRCA-EU 3 101063757 101063757 single base substitution A C upstream_gene_variant BRCA-EU 3 101067644 101067644 single base substitution A T intron_variant BRCA-EU 3 101067644 101067644 single base substitution A T upstream_gene_variant BRCA-EU 3 101067732 101067732 single base substitution A T intron_variant BRCA-EU 3 101067732 101067732 single base substitution A T upstream_gene_variant BRCA-EU 3 101068592 101068592 single base substitution A G intron_variant BRCA-EU 3 101068592 101068592 single base substitution A G upstream_gene_variant BRCA-EU 3 101069211 101069211 single base substitution C T intron_variant BRCA-EU 3 101069211 101069211 single base substitution C T upstream_gene_variant BRCA-EU 3 101069559 101069559 single base substitution G C intron_variant BRCA-EU 3 101069559 101069559 single base substitution G C upstream_gene_variant BRCA-EU 3 101071813 101071813 single base substitution C G intron_variant BRCA-EU 3 101072930 101072930 deletion of <=200bp T - intron_variant BRCA-EU 3 101073600 101073600 single base substitution T C intron_variant BRCA-EU 3 101074803 101074803 single base substitution C T intron_variant BRCA-EU 3 101075800 101075800 single base substitution G C intron_variant BRCA-EU 3 101075980 101075980 single base substitution G C intron_variant BRCA-EU 3 101076592 101076592 single base substitution G C intron_variant BRCA-EU 3 101077178 101077178 single base substitution G A intron_variant BRCA-EU 3 101077476 101077476 deletion of <=200bp T - intron_variant BRCA-EU 3 101078414 101078414 single base substitution C A intron_variant BRCA-EU 3 101081676 101081676 single base substitution G C intron_variant BRCA-EU 3 101082698 101082698 single base substitution G T intron_variant BRCA-EU 3 101083120 101083120 single base substitution T C intron_variant BRCA-EU 3 101084903 101084904 deletion of <=200bp AG - intron_variant BRCA-EU 3 101085358 101085358 deletion of <=200bp C - frameshift_variant D248 BRCA-EU 3 101085358 101085358 deletion of <=200bp C - frameshift_variant D346 BRCA-EU 3 101085358 101085358 deletion of <=200bp C - frameshift_variant D347 BRCA-EU 3 101085358 101085358 deletion of <=200bp C - frameshift_variant D379 BRCA-EU 3 101085358 101085358 deletion of <=200bp C - frameshift_variant D412 BRCA-EU 3 101085463 101085463 single base substitution T A missense_variant T213S 637A>T BRCA-EU 3 101085463 101085463 single base substitution T A missense_variant T311S 931A>T BRCA-EU 3 101085463 101085463 single base substitution T A missense_variant T312S 934A>T BRCA-EU 3 101085463 101085463 single base substitution T A missense_variant T344S 1030A>T BRCA-EU 3 101085463 101085463 single base substitution T A missense_variant T377S 1129A>T BRCA-EU 3 101085519 101085519 single base substitution G C missense_variant T194S 581C>G BRCA-EU 3 101085519 101085519 single base substitution G C missense_variant T292S 875C>G BRCA-EU 3 101085519 101085519 single base substitution G C missense_variant T293S 878C>G BRCA-EU 3 101085519 101085519 single base substitution G C missense_variant T325S 974C>G BRCA-EU 3 101085519 101085519 single base substitution G C missense_variant T358S 1073C>G BRCA-EU 3 101085605 101085605 single base substitution T C synonymous_variant Q165Q 495A>G BRCA-EU 3 101085605 101085605 single base substitution T C synonymous_variant Q263Q 789A>G BRCA-EU 3 101085605 101085605 single base substitution T C synonymous_variant Q264Q 792A>G BRCA-EU 3 101085605 101085605 single base substitution T C synonymous_variant Q296Q 888A>G BRCA-EU 3 101085605 101085605 single base substitution T C synonymous_variant Q329Q 987A>G BRCA-EU 3 101086329 101086329 deletion of <=200bp A - intron_variant BRCA-EU 3 101087108 101087108 deletion of <=200bp T - intron_variant BRCA-EU 3 101087238 101087238 single base substitution C T intron_variant BRCA-EU 3 101087242 101087242 insertion of <=200bp - A intron_variant BRCA-EU 3 101088211 101088211 single base substitution G C intron_variant BRCA-EU 3 101088923 101088923 single base substitution T A intron_variant BRCA-EU 3 101090125 101090125 single base substitution T C intron_variant BRCA-EU 3 101091058 101091058 single base substitution A G intron_variant BRCA-EU 3 101092177 101092177 single base substitution C A intron_variant BRCA-EU 3 101092327 101092327 single base substitution G C intron_variant BRCA-EU 3 101093765 101093765 deletion of <=200bp A - intron_variant BRCA-EU 3 101095277 101095277 single base substitution G A intron_variant BRCA-EU 3 101095904 101095904 deletion of <=200bp A - intron_variant BRCA-EU 3 101096941 101096941 single base substitution C T intron_variant BRCA-EU 3 101097457 101097457 single base substitution G C intron_variant BRCA-EU 3 101097688 101097688 single base substitution G T intron_variant BRCA-EU 3 101099693 101099693 deletion of <=200bp A - intron_variant BRCA-EU 3 101100520 101100520 single base substitution G A intron_variant BRCA-EU 3 101101701 101101701 single base substitution C T intron_variant BRCA-EU 3 101101780 101101780 single base substitution C G intron_variant BRCA-EU 3 101102707 101102707 single base substitution G A intron_variant BRCA-EU 3 101103321 101103321 single base substitution T C intron_variant BRCA-EU 3 101104265 101104265 single base substitution G A intron_variant BRCA-EU 3 101104976 101104976 single base substitution G A intron_variant BRCA-EU 3 101107402 101107402 single base substitution G C intron_variant BRCA-EU 3 101107430 101107430 single base substitution G C intron_variant BRCA-EU 3 101108928 101108928 single base substitution G C intron_variant BRCA-EU 3 101110109 101110109 single base substitution A G intron_variant BRCA-EU 3 101111183 101111183 single base substitution C G intron_variant BRCA-EU 3 101111363 101111363 single base substitution A C intron_variant BRCA-EU 3 101111779 101111779 single base substitution G A intron_variant BRCA-EU 3 101113240 101113240 deletion of <=200bp A - intron_variant BRCA-EU 3 101113494 101113496 deletion of <=200bp CTT - intron_variant BRCA-EU 3 101114229 101114229 single base substitution G A intron_variant BRCA-EU 3 101114616 101114616 single base substitution C T intron_variant BRCA-EU 3 101115410 101115410 single base substitution G C intron_variant BRCA-EU 3 101116365 101116365 deletion of <=200bp T - intron_variant BRCA-EU 3 101117070 101117070 single base substitution G A intron_variant BRCA-EU 3 101118626 101118626 single base substitution C T intron_variant BRCA-EU 3 101119004 101119004 single base substitution A G intron_variant BRCA-EU 3 101119577 101119577 single base substitution T A intron_variant BRCA-EU 3 101120320 101120320 single base substitution C A intron_variant BRCA-EU 3 101121607 101121607 deletion of <=200bp A - intron_variant BRCA-EU 3 101121827 101121827 single base substitution C T intron_variant BRCA-EU 3 101122414 101122414 single base substitution G C intron_variant BRCA-EU 3 101122434 101122434 single base substitution G A intron_variant BRCA-EU 3 101124307 101124307 single base substitution G C intron_variant BRCA-EU 3 101124594 101124594 single base substitution G A intron_variant BRCA-EU 3 101125743 101125743 single base substitution G C intron_variant BRCA-EU 3 101126369 101126369 single base substitution A G intron_variant BRCA-EU 3 101126404 101126404 single base substitution G C intron_variant BRCA-EU 3 101127157 101127157 single base substitution G T intron_variant BRCA-EU 3 101127171 101127171 single base substitution G A intron_variant BRCA-EU 3 101128098 101128098 single base substitution G A intron_variant BRCA-EU 3 101128798 101128798 single base substitution G C intron_variant BRCA-EU 3 101128864 101128864 single base substitution C G intron_variant BRCA-EU 3 101128983 101128984 deletion of <=200bp AA - intron_variant BRCA-EU 3 101130516 101130516 single base substitution A G intron_variant BRCA-EU 3 101130787 101130787 single base substitution A G intron_variant BRCA-EU 3 101131759 101131759 single base substitution C T intron_variant BRCA-EU 3 101133262 101133262 single base substitution G C intron_variant BRCA-EU 3 101133672 101133672 single base substitution G C intron_variant BRCA-EU 3 101134651 101134651 single base substitution C A intron_variant BRCA-EU 3 101135268 101135268 single base substitution C T intron_variant BRCA-EU 3 101136422 101136422 single base substitution T C intron_variant BRCA-EU 3 101136588 101136588 single base substitution G A intron_variant BRCA-EU 3 101136588 101136588 single base substitution G A stop_gained R111* 331C>T BRCA-EU 3 101136588 101136588 single base substitution G A stop_gained R78* 232C>T BRCA-EU 3 101137260 101137260 single base substitution G A intron_variant BRCA-EU 3 101137658 101137658 deletion of <=200bp A - intron_variant BRCA-EU 3 101138792 101138792 single base substitution C T intron_variant BRCA-EU 3 101139309 101139309 single base substitution A T intron_variant BRCA-EU 3 101140734 101140734 single base substitution G A intron_variant BRCA-EU 3 101141946 101141946 deletion of <=200bp A - intron_variant BRCA-EU 3 101141981 101141981 deletion of <=200bp A - intron_variant BRCA-EU 3 101143511 101143511 single base substitution C A intron_variant BRCA-EU 3 101145549 101145549 single base substitution C T intron_variant BRCA-EU 3 101146214 101146214 single base substitution G T intron_variant BRCA-EU 3 101147284 101147284 single base substitution A G intron_variant BRCA-EU 3 101147574 101147574 single base substitution C A intron_variant BRCA-EU 3 101147629 101147629 single base substitution G A intron_variant BRCA-EU 3 101148167 101148167 single base substitution G T intron_variant BRCA-EU 3 101148256 101148256 single base substitution C T intron_variant BRCA-EU 3 101148696 101148696 single base substitution G A intron_variant BRCA-EU 3 101149130 101149130 single base substitution G C intron_variant BRCA-EU 3 101149472 101149472 single base substitution C A intron_variant BRCA-EU 3 101149546 101149546 single base substitution G A intron_variant BRCA-EU 3 101150931 101150931 single base substitution G C intron_variant BRCA-EU 3 101151437 101151437 single base substitution G A intron_variant BRCA-EU 3 101151513 101151513 single base substitution T A intron_variant BRCA-EU 3 101152185 101152185 single base substitution A G intron_variant BRCA-EU 3 101152555 101152555 single base substitution G C intron_variant BRCA-EU 3 101155002 101155002 single base substitution G A intron_variant BRCA-EU 3 101155134 101155134 single base substitution G T intron_variant BRCA-EU 3 101155606 101155606 insertion of <=200bp - A intron_variant BRCA-EU 3 101156679 101156679 single base substitution A G intron_variant BRCA-EU 3 101157405 101157405 single base substitution G A intron_variant BRCA-EU 3 101157447 101157447 single base substitution T C intron_variant BRCA-EU 3 101157654 101157654 single base substitution C A intron_variant BRCA-EU 3 101158171 101158171 single base substitution T A intron_variant BRCA-EU 3 101159278 101159278 single base substitution C T intron_variant BRCA-EU 3 101159759 101159759 single base substitution G C intron_variant BRCA-EU 3 101160488 101160488 single base substitution G T intron_variant BRCA-EU 3 101160489 101160489 single base substitution C T intron_variant BRCA-EU 3 101161485 101161485 deletion of <=200bp A - intron_variant BRCA-EU 3 101161640 101161640 single base substitution G C intron_variant BRCA-EU 3 101164037 101164037 single base substitution C T intron_variant BRCA-EU 3 101164598 101164598 single base substitution G C intron_variant BRCA-EU 3 101164678 101164678 single base substitution G C intron_variant BRCA-EU 3 101167192 101167192 single base substitution G C intron_variant BRCA-EU 3 101167772 101167772 single base substitution G A intron_variant BRCA-EU 3 101167815 101167815 single base substitution A C intron_variant BRCA-EU 3 101169940 101169940 single base substitution G A intron_variant BRCA-EU 3 101171817 101171817 single base substitution G C intron_variant BRCA-EU 3 101174268 101174268 single base substitution A T intron_variant BRCA-EU 3 101176838 101176838 single base substitution C A intron_variant BRCA-EU 3 101178124 101178124 single base substitution C A intron_variant BRCA-EU 3 101178515 101178515 single base substitution T G intron_variant BRCA-EU 3 101179797 101179797 single base substitution A T intron_variant BRCA-EU 3 101180150 101180150 single base substitution G A intron_variant BRCA-EU 3 101181664 101181664 single base substitution A G intron_variant BRCA-EU 3 101184797 101184827 deletion of <=200bp AAAACGTCCTACAACTGAAGATTTCAATGAA - intron_variant BRCA-EU 3 101184814 101184814 single base substitution A G intron_variant BRCA-EU 3 101186202 101186202 single base substitution G C intron_variant BRCA-EU 3 101187074 101187074 single base substitution G C intron_variant BRCA-EU 3 101187122 101187122 single base substitution C T intron_variant BRCA-EU 3 101188332 101188332 single base substitution A C intron_variant BRCA-EU 3 101188990 101188990 single base substitution C T intron_variant BRCA-EU 3 101189629 101189629 single base substitution G A intron_variant BRCA-EU 3 101190161 101190161 single base substitution G C intron_variant BRCA-EU 3 101190166 101190166 single base substitution G C intron_variant BRCA-EU 3 101191642 101191642 single base substitution T C intron_variant BRCA-EU 3 101193015 101193015 single base substitution C A intron_variant BRCA-EU 3 101193023 101193023 single base substitution T G intron_variant BRCA-EU 3 101193957 101193957 insertion of <=200bp - A intron_variant BRCA-EU 3 101194824 101194824 single base substitution G C intron_variant BRCA-EU 3 101195748 101195748 single base substitution G C intron_variant BRCA-EU 3 101196106 101196106 deletion of <=200bp A - intron_variant BRCA-EU 3 101197520 101197520 single base substitution C T intron_variant BRCA-EU 3 101197819 101197819 deletion of <=200bp A - intron_variant BRCA-EU 3 101197819 101197819 insertion of <=200bp - A intron_variant BRCA-EU 3 101197820 101197820 insertion of <=200bp - AATCAATAAACATGACACATCACATCAATAGGATGAAAAACAAAAACCATGCAGTCACCTCAACAGATGC intron_variant BRCA-EU 3 101197828 101197828 deletion of <=200bp T - intron_variant BRCA-EU 3 101198559 101198559 single base substitution G A intron_variant BRCA-EU 3 101198788 101198788 insertion of <=200bp - A intron_variant BRCA-EU 3 101199922 101199922 single base substitution A C intron_variant BRCA-EU 3 101201595 101201595 deletion of <=200bp T - intron_variant BRCA-EU 3 101202456 101202456 single base substitution T C intron_variant BRCA-EU 3 101202780 101202780 single base substitution G A intron_variant BRCA-EU 3 101204243 101204243 single base substitution C T intron_variant BRCA-EU 3 101204547 101204547 single base substitution C T intron_variant BRCA-EU 3 101205479 101205479 single base substitution C T intron_variant BRCA-EU 3 101206125 101206125 insertion of <=200bp - ATAT intron_variant BRCA-EU 3 101206151 101206151 deletion of <=200bp T - intron_variant BRCA-EU 3 101206369 101206369 single base substitution T A intron_variant BRCA-EU 3 101206902 101206902 single base substitution C T intron_variant BRCA-EU 3 101207587 101207587 single base substitution G A intron_variant BRCA-EU 3 101210734 101210734 single base substitution G A intron_variant BRCA-EU 3 101212992 101212992 single base substitution G C intron_variant BRCA-EU 3 101213171 101213188 deletion of <=200bp TAAAACTCTTAACAATTG - intron_variant BRCA-EU 3 101213766 101213766 single base substitution G A intron_variant BRCA-EU 3 101214275 101214275 single base substitution T C intron_variant BRCA-EU 3 101217821 101217821 single base substitution G C intron_variant BRCA-EU 3 101218940 101218942 deletion of <=200bp CTT - intron_variant BRCA-EU 3 101219389 101219389 insertion of <=200bp - A intron_variant BRCA-EU 3 101220156 101220156 single base substitution C G intron_variant BRCA-EU 3 101220343 101220343 single base substitution G A intron_variant BRCA-EU 3 101222296 101222296 single base substitution C A intron_variant BRCA-EU 3 101222960 101222960 single base substitution T A intron_variant BRCA-EU 3 101223401 101223401 single base substitution A C intron_variant BRCA-EU 3 101223764 101223764 single base substitution G T intron_variant BRCA-EU 3 101223887 101223887 single base substitution C G intron_variant BRCA-EU 3 101223926 101223926 deletion of <=200bp A - intron_variant BRCA-EU 3 101226477 101226477 single base substitution G A intron_variant BRCA-EU 3 101227935 101227935 single base substitution C T intron_variant BRCA-EU 3 101228038 101228038 single base substitution A T intron_variant BRCA-EU 3 101228827 101228827 single base substitution C T intron_variant BRCA-EU 3 101231214 101231216 deletion of <=200bp TTC - intron_variant BRCA-EU 3 101232559 101232559 single base substitution G A upstream_gene_variant BRCA-EU 3 101232571 101232571 single base substitution C G upstream_gene_variant BRCA-EU 3 101233248 101233248 single base substitution A G upstream_gene_variant BRCA-EU 3 101233397 101233397 single base substitution G A upstream_gene_variant BRCA-EU 3 101234034 101234034 single base substitution G T upstream_gene_variant BRCA-EU 3 101234714 101234714 single base substitution A T upstream_gene_variant BRCA-EU 3 101234849 101234849 deletion of <=200bp A - upstream_gene_variant BRCA-EU 3 101234873 101234873 single base substitution A G upstream_gene_variant BRCA-EU 3 101234930 101234930 single base substitution A T upstream_gene_variant BRCA-EU 3 101235176 101235176 single base substitution G T upstream_gene_variant BRCA-EU 3 101236272 101236272 single base substitution C T upstream_gene_variant BRCA-FR 3 101054778 101054778 single base substitution T A downstream_gene_variant BRCA-FR 3 101054778 101054778 single base substitution T A intron_variant BRCA-FR 3 101054778 101054778 single base substitution T A upstream_gene_variant BRCA-FR 3 101060126 101060126 single base substitution T A intron_variant BRCA-FR 3 101060126 101060126 single base substitution T A upstream_gene_variant BRCA-FR 3 101076592 101076592 single base substitution G C intron_variant BRCA-FR 3 101080057 101080057 single base substitution C T intron_variant BRCA-FR 3 101083120 101083120 single base substitution T C intron_variant BRCA-FR 3 101095277 101095277 single base substitution G A intron_variant BRCA-FR 3 101097457 101097457 single base substitution G C intron_variant BRCA-FR 3 101099733 101099733 single base substitution T C intron_variant BRCA-FR 3 101100520 101100520 single base substitution G A intron_variant BRCA-FR 3 101100957 101100957 single base substitution G C intron_variant BRCA-FR 3 101101701 101101701 single base substitution C T intron_variant BRCA-FR 3 101122434 101122434 single base substitution G A intron_variant BRCA-FR 3 101122770 101122770 single base substitution C T intron_variant BRCA-FR 3 101147629 101147629 single base substitution G A intron_variant BRCA-FR 3 101152555 101152555 single base substitution G C intron_variant BRCA-FR 3 101156679 101156679 single base substitution A G intron_variant BRCA-FR 3 101161640 101161640 single base substitution G C intron_variant BRCA-FR 3 101162495 101162495 single base substitution G A intron_variant BRCA-FR 3 101163406 101163406 single base substitution A T intron_variant BRCA-FR 3 101176408 101176408 single base substitution T C intron_variant BRCA-FR 3 101180150 101180150 single base substitution G A intron_variant BRCA-FR 3 101183241 101183241 single base substitution A C intron_variant BRCA-FR 3 101190696 101190696 single base substitution G C intron_variant BRCA-FR 3 101205479 101205479 single base substitution C T intron_variant BRCA-FR 3 101212992 101212992 single base substitution G C intron_variant BRCA-FR 3 101220156 101220156 single base substitution C G intron_variant BRCA-FR 3 101223401 101223401 single base substitution A C intron_variant BRCA-FR 3 101226685 101226685 single base substitution G C intron_variant BRCA-FR 3 101228827 101228827 single base substitution C T intron_variant BRCA-FR 3 101236272 101236272 single base substitution C T upstream_gene_variant BRCA-KR 3 101070607 101070607 single base substitution C G intron_variant BRCA-KR 3 101070607 101070607 single base substitution C G upstream_gene_variant BRCA-UK 3 101054475 101054475 single base substitution C G downstream_gene_variant BRCA-UK 3 101054475 101054475 single base substitution C G intron_variant BRCA-UK 3 101054475 101054475 single base substitution C G upstream_gene_variant BRCA-UK 3 101060621 101060621 single base substitution G C splice_region_variant BRCA-UK 3 101060621 101060621 single base substitution G C upstream_gene_variant BRCA-UK 3 101084903 101084904 deletion of <=200bp AG - intron_variant BRCA-UK 3 101127171 101127171 single base substitution G A intron_variant BRCA-UK 3 101133672 101133672 single base substitution G C intron_variant BRCA-UK 3 101139309 101139309 single base substitution A T intron_variant BRCA-UK 3 101150931 101150931 single base substitution G C intron_variant BRCA-UK 3 101190161 101190161 single base substitution G C intron_variant BRCA-UK 3 101213766 101213766 single base substitution G A intron_variant BRCA-US 3 101046516 101046516 single base substitution G T missense_variant F1003L 3009C>A BRCA-US 3 101046516 101046516 single base substitution G T missense_variant F191L 573C>A BRCA-US 3 101046516 101046516 single base substitution G T missense_variant F839L 2517C>A BRCA-US 3 101046516 101046516 single base substitution G T missense_variant F937L 2811C>A BRCA-US 3 101046516 101046516 single base substitution G T missense_variant F938L 2814C>A BRCA-US 3 101046516 101046516 single base substitution G T missense_variant F970L 2910C>A BRCA-US 3 101046584 101046584 single base substitution G A missense_variant P169S 505C>T BRCA-US 3 101046584 101046584 single base substitution G A missense_variant P817S 2449C>T BRCA-US 3 101046584 101046584 single base substitution G A missense_variant P915S 2743C>T BRCA-US 3 101046584 101046584 single base substitution G A missense_variant P916S 2746C>T BRCA-US 3 101046584 101046584 single base substitution G A missense_variant P948S 2842C>T BRCA-US 3 101046584 101046584 single base substitution G A missense_variant P981S 2941C>T BRCA-US 3 101056428 101056428 single base substitution T G exon_variant BRCA-US 3 101056428 101056428 single base substitution T G missense_variant H638P 1913A>C BRCA-US 3 101056428 101056428 single base substitution T G missense_variant H736P 2207A>C BRCA-US 3 101056428 101056428 single base substitution T G missense_variant H737P 2210A>C BRCA-US 3 101056428 101056428 single base substitution T G missense_variant H769P 2306A>C BRCA-US 3 101056428 101056428 single base substitution T G missense_variant H802P 2405A>C BRCA-US 3 101056428 101056428 single base substitution T G upstream_gene_variant BRCA-US 3 101062691 101062691 single base substitution A G downstream_gene_variant BRCA-US 3 101062691 101062691 single base substitution A G synonymous_variant L485L 1453T>C BRCA-US 3 101062691 101062691 single base substitution A G synonymous_variant L583L 1747T>C BRCA-US 3 101062691 101062691 single base substitution A G synonymous_variant L584L 1750T>C BRCA-US 3 101062691 101062691 single base substitution A G synonymous_variant L616L 1846T>C BRCA-US 3 101062691 101062691 single base substitution A G synonymous_variant L649L 1945T>C BRCA-US 3 101062691 101062691 single base substitution A G upstream_gene_variant BRCA-US 3 101083788 101083788 single base substitution C A stop_gained E292* 874G>T BRCA-US 3 101083788 101083788 single base substitution C A stop_gained E390* 1168G>T BRCA-US 3 101083788 101083788 single base substitution C A stop_gained E391* 1171G>T BRCA-US 3 101083788 101083788 single base substitution C A stop_gained E423* 1267G>T BRCA-US 3 101083788 101083788 single base substitution C A stop_gained E456* 1366G>T BRCA-US 3 101083810 101083810 single base substitution T C synonymous_variant G284G 852A>G BRCA-US 3 101083810 101083810 single base substitution T C synonymous_variant G382G 1146A>G BRCA-US 3 101083810 101083810 single base substitution T C synonymous_variant G383G 1149A>G BRCA-US 3 101083810 101083810 single base substitution T C synonymous_variant G415G 1245A>G BRCA-US 3 101083810 101083810 single base substitution T C synonymous_variant G448G 1344A>G BRCA-US 3 101136588 101136588 single base substitution G C intron_variant BRCA-US 3 101136588 101136588 single base substitution G C missense_variant R111G 331C>G BRCA-US 3 101136588 101136588 single base substitution G C missense_variant R78G 232C>G BTCA-JP 3 101050871 101050871 single base substitution G A stop_gained Q722* 2164C>T BTCA-JP 3 101050871 101050871 single base substitution G A stop_gained Q74* 220C>T BTCA-JP 3 101050871 101050871 single base substitution G A stop_gained Q820* 2458C>T BTCA-JP 3 101050871 101050871 single base substitution G A stop_gained Q821* 2461C>T BTCA-JP 3 101050871 101050871 single base substitution G A stop_gained Q853* 2557C>T BTCA-JP 3 101050871 101050871 single base substitution G A stop_gained Q886* 2656C>T BTCA-JP 3 101050945 101050945 single base substitution C T stop_gained W49* 146G>A BTCA-JP 3 101050945 101050945 single base substitution C T stop_gained W697* 2090G>A BTCA-JP 3 101050945 101050945 single base substitution C T stop_gained W795* 2384G>A BTCA-JP 3 101050945 101050945 single base substitution C T stop_gained W796* 2387G>A BTCA-JP 3 101050945 101050945 single base substitution C T stop_gained W828* 2483G>A BTCA-JP 3 101050945 101050945 single base substitution C T stop_gained W861* 2582G>A BTCA-JP 3 101062524 101062524 single base substitution G A downstream_gene_variant BTCA-JP 3 101062524 101062524 single base substitution G A splice_region_variant BTCA-JP 3 101062524 101062524 single base substitution G A upstream_gene_variant BTCA-JP 3 101066717 101066717 single base substitution T A missense_variant Q13H 39A>T BTCA-JP 3 101066717 101066717 single base substitution T A missense_variant Q448H 1344A>T BTCA-JP 3 101066717 101066717 single base substitution T A missense_variant Q546H 1638A>T BTCA-JP 3 101066717 101066717 single base substitution T A missense_variant Q547H 1641A>T BTCA-JP 3 101066717 101066717 single base substitution T A missense_variant Q579H 1737A>T BTCA-JP 3 101066717 101066717 single base substitution T A missense_variant Q612H 1836A>T BTCA-JP 3 101080486 101080486 insertion of <=200bp - A intron_variant BTCA-JP 3 101117947 101117947 deletion of <=200bp A - intron_variant BTCA-JP 3 101117947 101117947 insertion of <=200bp - A intron_variant CESC-US 3 101044797 101044797 single base substitution C T missense_variant S1015N 3044G>A CESC-US 3 101044797 101044797 single base substitution C T missense_variant S1048N 3143G>A CESC-US 3 101044797 101044797 single base substitution C T missense_variant S236N 707G>A CESC-US 3 101044797 101044797 single base substitution C T missense_variant S884N 2651G>A CESC-US 3 101044797 101044797 single base substitution C T missense_variant S982N 2945G>A CESC-US 3 101044797 101044797 single base substitution C T missense_variant S983N 2948G>A CESC-US 3 101046647 101046647 single base substitution C G missense_variant E148Q 442G>C CESC-US 3 101046647 101046647 single base substitution C G missense_variant E796Q 2386G>C CESC-US 3 101046647 101046647 single base substitution C G missense_variant E894Q 2680G>C CESC-US 3 101046647 101046647 single base substitution C G missense_variant E895Q 2683G>C CESC-US 3 101046647 101046647 single base substitution C G missense_variant E927Q 2779G>C CESC-US 3 101046647 101046647 single base substitution C G missense_variant E960Q 2878G>C CESC-US 3 101056409 101056409 single base substitution G C exon_variant CESC-US 3 101056409 101056409 single base substitution G C missense_variant F644L 1932C>G CESC-US 3 101056409 101056409 single base substitution G C missense_variant F742L 2226C>G CESC-US 3 101056409 101056409 single base substitution G C missense_variant F743L 2229C>G CESC-US 3 101056409 101056409 single base substitution G C missense_variant F775L 2325C>G CESC-US 3 101056409 101056409 single base substitution G C missense_variant F808L 2424C>G CESC-US 3 101056409 101056409 single base substitution G C upstream_gene_variant CLLE-ES 3 101046409 101046409 single base substitution T C intron_variant CLLE-ES 3 101067720 101067720 single base substitution A T intron_variant CLLE-ES 3 101067720 101067720 single base substitution A T upstream_gene_variant CLLE-ES 3 101098594 101098594 single base substitution A G intron_variant CLLE-ES 3 101107327 101107327 single base substitution C T intron_variant CLLE-ES 3 101109201 101109201 single base substitution A C intron_variant CLLE-ES 3 101116722 101116722 single base substitution T G intron_variant CLLE-ES 3 101120447 101120447 single base substitution T A intron_variant CLLE-ES 3 101151586 101151586 single base substitution A G intron_variant CLLE-ES 3 101156066 101156066 single base substitution G A intron_variant CLLE-ES 3 101236890 101236890 single base substitution G A upstream_gene_variant COAD-US 3 101038520 101038520 single base substitution C T downstream_gene_variant COAD-US 3 101038595 101038595 single base substitution A C downstream_gene_variant COAD-US 3 101038625 101038625 single base substitution G T downstream_gene_variant COAD-US 3 101044860 101044860 single base substitution T G missense_variant K1027T 3080A>C COAD-US 3 101044860 101044860 single base substitution T G missense_variant K215T 644A>C COAD-US 3 101044860 101044860 single base substitution T G missense_variant K863T 2588A>C COAD-US 3 101044860 101044860 single base substitution T G missense_variant K961T 2882A>C COAD-US 3 101044860 101044860 single base substitution T G missense_variant K962T 2885A>C COAD-US 3 101044860 101044860 single base substitution T G missense_variant K994T 2981A>C COAD-US 3 101056353 101056353 single base substitution G A exon_variant COAD-US 3 101056353 101056353 single base substitution G A missense_variant S663L 1988C>T COAD-US 3 101056353 101056353 single base substitution G A missense_variant S761L 2282C>T COAD-US 3 101056353 101056353 single base substitution G A missense_variant S762L 2285C>T COAD-US 3 101056353 101056353 single base substitution G A missense_variant S794L 2381C>T COAD-US 3 101056353 101056353 single base substitution G A missense_variant S827L 2480C>T COAD-US 3 101056353 101056353 single base substitution G A upstream_gene_variant COAD-US 3 101056354 101056354 single base substitution A C exon_variant COAD-US 3 101056354 101056354 single base substitution A C missense_variant S663A 1987T>G COAD-US 3 101056354 101056354 single base substitution A C missense_variant S761A 2281T>G COAD-US 3 101056354 101056354 single base substitution A C missense_variant S762A 2284T>G COAD-US 3 101056354 101056354 single base substitution A C missense_variant S794A 2380T>G COAD-US 3 101056354 101056354 single base substitution A C missense_variant S827A 2479T>G COAD-US 3 101056354 101056354 single base substitution A C upstream_gene_variant COAD-US 3 101062707 101062707 single base substitution A G downstream_gene_variant COAD-US 3 101062707 101062707 single base substitution A G synonymous_variant S479S 1437T>C COAD-US 3 101062707 101062707 single base substitution A G synonymous_variant S577S 1731T>C COAD-US 3 101062707 101062707 single base substitution A G synonymous_variant S578S 1734T>C COAD-US 3 101062707 101062707 single base substitution A G synonymous_variant S610S 1830T>C COAD-US 3 101062707 101062707 single base substitution A G synonymous_variant S643S 1929T>C COAD-US 3 101062707 101062707 single base substitution A G upstream_gene_variant COAD-US 3 101066717 101066717 single base substitution T A missense_variant Q13H 39A>T COAD-US 3 101066717 101066717 single base substitution T A missense_variant Q448H 1344A>T COAD-US 3 101066717 101066717 single base substitution T A missense_variant Q546H 1638A>T COAD-US 3 101066717 101066717 single base substitution T A missense_variant Q547H 1641A>T COAD-US 3 101066717 101066717 single base substitution T A missense_variant Q579H 1737A>T COAD-US 3 101066717 101066717 single base substitution T A missense_variant Q612H 1836A>T COAD-US 3 101083676 101083676 single base substitution A G splice_donor_variant COAD-US 3 101086677 101086677 single base substitution C T synonymous_variant Q161Q 483G>A COAD-US 3 101086677 101086677 single base substitution C T synonymous_variant Q259Q 777G>A COAD-US 3 101086677 101086677 single base substitution C T synonymous_variant Q260Q 780G>A COAD-US 3 101086677 101086677 single base substitution C T synonymous_variant Q292Q 876G>A COAD-US 3 101086677 101086677 single base substitution C T synonymous_variant Q325Q 975G>A COAD-US 3 101086699 101086699 single base substitution G T missense_variant S154Y 461C>A COAD-US 3 101086699 101086699 single base substitution G T missense_variant S252Y 755C>A COAD-US 3 101086699 101086699 single base substitution G T missense_variant S253Y 758C>A COAD-US 3 101086699 101086699 single base substitution G T missense_variant S285Y 854C>A COAD-US 3 101086699 101086699 single base substitution G T missense_variant S318Y 953C>A COAD-US 3 101090959 101090959 single base substitution C T missense_variant R164Q 491G>A COAD-US 3 101090959 101090959 single base substitution C T missense_variant R165Q 494G>A COAD-US 3 101090959 101090959 single base substitution C T missense_variant R197Q 590G>A COAD-US 3 101090959 101090959 single base substitution C T missense_variant R230Q 689G>A COAD-US 3 101090959 101090959 single base substitution C T missense_variant R66Q 197G>A COAD-US 3 101117802 101117802 single base substitution C T intron_variant COAD-US 3 101117802 101117802 single base substitution C T missense_variant D128N 382G>A COAD-US 3 101117802 101117802 single base substitution C T missense_variant D161N 481G>A COAD-US 3 101117802 101117802 single base substitution C T missense_variant D194N 580G>A COAD-US 3 101136588 101136588 single base substitution G A intron_variant COAD-US 3 101136588 101136588 single base substitution G A stop_gained R111* 331C>T COAD-US 3 101136588 101136588 single base substitution G A stop_gained R78* 232C>T COAD-US 3 101136589 101136589 single base substitution T A intron_variant COAD-US 3 101136589 101136589 single base substitution T A synonymous_variant G110G 330A>T COAD-US 3 101136589 101136589 single base substitution T A synonymous_variant G77G 231A>T COCA-CN 3 101047495 101047495 single base substitution A C missense_variant C118W 354T>G COCA-CN 3 101047495 101047495 single base substitution A C missense_variant C766W 2298T>G COCA-CN 3 101047495 101047495 single base substitution A C missense_variant C864W 2592T>G COCA-CN 3 101047495 101047495 single base substitution A C missense_variant C865W 2595T>G COCA-CN 3 101047495 101047495 single base substitution A C missense_variant C897W 2691T>G COCA-CN 3 101047495 101047495 single base substitution A C missense_variant C930W 2790T>G COCA-CN 3 101050937 101050937 single base substitution C T missense_variant A52T 154G>A COCA-CN 3 101050937 101050937 single base substitution C T missense_variant A700T 2098G>A COCA-CN 3 101050937 101050937 single base substitution C T missense_variant A798T 2392G>A COCA-CN 3 101050937 101050937 single base substitution C T missense_variant A799T 2395G>A COCA-CN 3 101050937 101050937 single base substitution C T missense_variant A831T 2491G>A COCA-CN 3 101050937 101050937 single base substitution C T missense_variant A864T 2590G>A COCA-CN 3 101076341 101076341 single base substitution G A intron_variant COCA-CN 3 101076360 101076360 single base substitution G A intron_variant COCA-CN 3 101080546 101080546 single base substitution A C intron_variant COCA-CN 3 101085214 101085214 single base substitution A C intron_variant COCA-CN 3 101090991 101090991 single base substitution A T intron_variant COCA-CN 3 101133141 101133141 single base substitution G T intron_variant COCA-CN 3 101136462 101136462 single base substitution G A intron_variant COCA-CN 3 101136462 101136462 single base substitution G A missense_variant R120C 358C>T COCA-CN 3 101136462 101136462 single base substitution G A missense_variant R153C 457C>T COCA-CN 3 101146362 101146362 single base substitution A C intron_variant COCA-CN 3 101146444 101146444 single base substitution T G intron_variant COCA-CN 3 101163031 101163031 single base substitution G A intron_variant COCA-CN 3 101177754 101177754 single base substitution T C intron_variant COCA-CN 3 101212889 101212889 single base substitution C T intron_variant EOPC-DE 3 101042503 101042503 single base substitution G A downstream_gene_variant EOPC-DE 3 101103623 101103623 single base substitution C G intron_variant EOPC-DE 3 101148440 101148440 single base substitution C T intron_variant ESAD-UK 3 101040204 101040204 single base substitution A C downstream_gene_variant ESAD-UK 3 101041465 101041465 single base substitution A G downstream_gene_variant ESAD-UK 3 101041601 101041601 single base substitution C A downstream_gene_variant ESAD-UK 3 101042008 101042008 single base substitution T G downstream_gene_variant ESAD-UK 3 101042674 101042674 single base substitution A G downstream_gene_variant ESAD-UK 3 101043984 101043984 single base substitution G A 3_prime_UTR_variant ESAD-UK 3 101043984 101043984 single base substitution G A downstream_gene_variant ESAD-UK 3 101044691 101044691 single base substitution A C 3_prime_UTR_variant ESAD-UK 3 101044691 101044691 single base substitution A C downstream_gene_variant ESAD-UK 3 101044872 101044872 single base substitution C T missense_variant R1023H 3068G>A ESAD-UK 3 101044872 101044872 single base substitution C T missense_variant R211H 632G>A ESAD-UK 3 101044872 101044872 single base substitution C T missense_variant R859H 2576G>A ESAD-UK 3 101044872 101044872 single base substitution C T missense_variant R957H 2870G>A ESAD-UK 3 101044872 101044872 single base substitution C T missense_variant R958H 2873G>A ESAD-UK 3 101044872 101044872 single base substitution C T missense_variant R990H 2969G>A ESAD-UK 3 101045255 101045255 single base substitution T A intron_variant ESAD-UK 3 101046430 101046430 single base substitution A T intron_variant ESAD-UK 3 101047990 101047990 single base substitution A G intron_variant ESAD-UK 3 101049572 101049572 single base substitution G A intron_variant ESAD-UK 3 101049803 101049803 single base substitution T C intron_variant ESAD-UK 3 101049804 101049804 single base substitution T A intron_variant ESAD-UK 3 101051556 101051556 single base substitution T C downstream_gene_variant ESAD-UK 3 101051556 101051556 single base substitution T C intron_variant ESAD-UK 3 101051562 101051562 single base substitution A T downstream_gene_variant ESAD-UK 3 101051562 101051562 single base substitution A T intron_variant ESAD-UK 3 101052225 101052225 single base substitution A C downstream_gene_variant ESAD-UK 3 101052225 101052225 single base substitution A C intron_variant ESAD-UK 3 101052225 101052225 single base substitution A C upstream_gene_variant ESAD-UK 3 101052306 101052306 single base substitution A G downstream_gene_variant ESAD-UK 3 101052306 101052306 single base substitution A G intron_variant ESAD-UK 3 101052306 101052306 single base substitution A G upstream_gene_variant ESAD-UK 3 101052645 101052645 single base substitution C A downstream_gene_variant ESAD-UK 3 101052645 101052645 single base substitution C A intron_variant ESAD-UK 3 101052645 101052645 single base substitution C A upstream_gene_variant ESAD-UK 3 101053180 101053180 single base substitution A C downstream_gene_variant ESAD-UK 3 101053180 101053180 single base substitution A C intron_variant ESAD-UK 3 101053180 101053180 single base substitution A C upstream_gene_variant ESAD-UK 3 101055066 101055066 single base substitution A C downstream_gene_variant ESAD-UK 3 101055066 101055066 single base substitution A C intron_variant ESAD-UK 3 101055066 101055066 single base substitution A C upstream_gene_variant ESAD-UK 3 101055623 101055623 single base substitution A C downstream_gene_variant ESAD-UK 3 101055623 101055623 single base substitution A C intron_variant ESAD-UK 3 101055623 101055623 single base substitution A C upstream_gene_variant ESAD-UK 3 101056017 101056017 single base substitution C T exon_variant ESAD-UK 3 101056017 101056017 single base substitution C T intron_variant ESAD-UK 3 101056017 101056017 single base substitution C T upstream_gene_variant ESAD-UK 3 101056818 101056818 single base substitution G A intron_variant ESAD-UK 3 101056818 101056818 single base substitution G A upstream_gene_variant ESAD-UK 3 101058411 101058411 single base substitution A C intron_variant ESAD-UK 3 101058453 101058453 single base substitution T C intron_variant ESAD-UK 3 101063405 101063405 single base substitution G T downstream_gene_variant ESAD-UK 3 101063405 101063405 single base substitution G T intron_variant ESAD-UK 3 101063405 101063405 single base substitution G T upstream_gene_variant ESAD-UK 3 101063784 101063784 single base substitution G C downstream_gene_variant ESAD-UK 3 101063784 101063784 single base substitution G C intron_variant ESAD-UK 3 101063784 101063784 single base substitution G C upstream_gene_variant ESAD-UK 3 101063870 101063870 single base substitution A T downstream_gene_variant ESAD-UK 3 101063870 101063870 single base substitution A T intron_variant ESAD-UK 3 101063870 101063870 single base substitution A T upstream_gene_variant ESAD-UK 3 101064266 101064266 single base substitution C G downstream_gene_variant ESAD-UK 3 101064266 101064266 single base substitution C G intron_variant ESAD-UK 3 101064266 101064266 single base substitution C G upstream_gene_variant ESAD-UK 3 101065037 101065037 single base substitution A G downstream_gene_variant ESAD-UK 3 101065037 101065037 single base substitution A G intron_variant ESAD-UK 3 101065140 101065140 single base substitution T G downstream_gene_variant ESAD-UK 3 101065140 101065140 single base substitution T G intron_variant ESAD-UK 3 101067265 101067265 single base substitution G A intron_variant ESAD-UK 3 101067265 101067265 single base substitution G A upstream_gene_variant ESAD-UK 3 101068522 101068522 single base substitution G T intron_variant ESAD-UK 3 101068522 101068522 single base substitution G T upstream_gene_variant ESAD-UK 3 101068738 101068738 single base substitution C G intron_variant ESAD-UK 3 101068738 101068738 single base substitution C G upstream_gene_variant ESAD-UK 3 101070484 101070484 insertion of <=200bp - G frameshift_variant K381K? ESAD-UK 3 101070484 101070484 insertion of <=200bp - G frameshift_variant K479K? ESAD-UK 3 101070484 101070484 insertion of <=200bp - G frameshift_variant K480K? ESAD-UK 3 101070484 101070484 insertion of <=200bp - G frameshift_variant K512K? ESAD-UK 3 101070484 101070484 insertion of <=200bp - G frameshift_variant K545K? ESAD-UK 3 101070484 101070484 insertion of <=200bp - G upstream_gene_variant ESAD-UK 3 101070913 101070913 single base substitution T G intron_variant ESAD-UK 3 101070913 101070913 single base substitution T G upstream_gene_variant ESAD-UK 3 101071192 101071192 single base substitution T C intron_variant ESAD-UK 3 101071192 101071192 single base substitution T C upstream_gene_variant ESAD-UK 3 101071862 101071862 single base substitution C T intron_variant ESAD-UK 3 101072515 101072515 single base substitution A C intron_variant ESAD-UK 3 101072585 101072585 insertion of <=200bp - A intron_variant ESAD-UK 3 101073794 101073794 single base substitution T G intron_variant ESAD-UK 3 101074542 101074542 deletion of <=200bp T - intron_variant ESAD-UK 3 101074680 101074680 single base substitution C T intron_variant ESAD-UK 3 101076313 101076313 single base substitution C T intron_variant ESAD-UK 3 101077738 101077738 single base substitution T A intron_variant ESAD-UK 3 101078775 101078775 single base substitution T C intron_variant ESAD-UK 3 101080065 101080065 single base substitution A C intron_variant ESAD-UK 3 101080196 101080196 single base substitution G T intron_variant ESAD-UK 3 101081175 101081175 single base substitution C T intron_variant ESAD-UK 3 101081697 101081697 single base substitution T A intron_variant ESAD-UK 3 101082697 101082697 single base substitution A C intron_variant ESAD-UK 3 101082876 101082876 single base substitution A C intron_variant ESAD-UK 3 101082921 101082921 single base substitution C T intron_variant ESAD-UK 3 101083365 101083365 single base substitution C A intron_variant ESAD-UK 3 101085964 101085964 single base substitution T A intron_variant ESAD-UK 3 101086161 101086161 single base substitution T C intron_variant ESAD-UK 3 101088560 101088560 single base substitution G A intron_variant ESAD-UK 3 101091184 101091184 deletion of <=200bp A - intron_variant ESAD-UK 3 101091200 101091200 single base substitution C A intron_variant ESAD-UK 3 101092927 101092927 single base substitution C T intron_variant ESAD-UK 3 101093942 101093942 single base substitution A T intron_variant ESAD-UK 3 101096730 101096730 single base substitution A G intron_variant ESAD-UK 3 101097760 101097760 insertion of <=200bp - A intron_variant ESAD-UK 3 101098515 101098515 single base substitution G A intron_variant ESAD-UK 3 101098973 101098973 single base substitution T C intron_variant ESAD-UK 3 101099006 101099006 single base substitution T A intron_variant ESAD-UK 3 101099238 101099238 single base substitution T A intron_variant ESAD-UK 3 101099289 101099289 insertion of <=200bp - A intron_variant ESAD-UK 3 101099418 101099418 single base substitution A G intron_variant ESAD-UK 3 101099574 101099574 single base substitution A G intron_variant ESAD-UK 3 101099797 101099797 single base substitution C G intron_variant ESAD-UK 3 101100235 101100235 single base substitution G C intron_variant ESAD-UK 3 101100935 101100935 single base substitution A G intron_variant ESAD-UK 3 101101024 101101024 deletion of <=200bp T - intron_variant ESAD-UK 3 101101435 101101435 single base substitution A T intron_variant ESAD-UK 3 101101701 101101701 single base substitution C T intron_variant ESAD-UK 3 101104063 101104063 single base substitution A C intron_variant ESAD-UK 3 101104342 101104342 single base substitution C A intron_variant ESAD-UK 3 101104357 101104357 single base substitution T G intron_variant ESAD-UK 3 101105218 101105218 single base substitution C A intron_variant ESAD-UK 3 101105470 101105470 single base substitution G A intron_variant ESAD-UK 3 101105817 101105817 single base substitution A C intron_variant ESAD-UK 3 101110463 101110463 single base substitution C A intron_variant ESAD-UK 3 101111286 101111286 single base substitution A T intron_variant ESAD-UK 3 101111429 101111429 single base substitution A C intron_variant ESAD-UK 3 101111510 101111510 single base substitution T C intron_variant ESAD-UK 3 101111540 101111540 single base substitution T G intron_variant ESAD-UK 3 101113481 101113481 single base substitution C T intron_variant ESAD-UK 3 101114789 101114789 single base substitution G C intron_variant ESAD-UK 3 101116146 101116146 single base substitution T G intron_variant ESAD-UK 3 101116380 101116380 single base substitution T C intron_variant ESAD-UK 3 101116849 101116849 single base substitution C G intron_variant ESAD-UK 3 101117303 101117303 single base substitution C G intron_variant ESAD-UK 3 101119170 101119170 single base substitution T C intron_variant ESAD-UK 3 101119321 101119321 single base substitution G A intron_variant ESAD-UK 3 101120434 101120434 single base substitution G A intron_variant ESAD-UK 3 101122487 101122487 single base substitution A C intron_variant ESAD-UK 3 101122776 101122776 single base substitution C T intron_variant ESAD-UK 3 101123315 101123315 single base substitution A C intron_variant ESAD-UK 3 101123427 101123427 single base substitution T C intron_variant ESAD-UK 3 101124035 101124035 single base substitution A G intron_variant ESAD-UK 3 101125110 101125110 single base substitution A G intron_variant ESAD-UK 3 101126035 101126035 single base substitution G A intron_variant ESAD-UK 3 101126377 101126377 single base substitution G T intron_variant ESAD-UK 3 101126647 101126647 single base substitution T G intron_variant ESAD-UK 3 101126935 101126935 single base substitution C T intron_variant ESAD-UK 3 101127129 101127129 single base substitution A T intron_variant ESAD-UK 3 101127149 101127149 deletion of <=200bp A - intron_variant ESAD-UK 3 101127518 101127518 single base substitution A C intron_variant ESAD-UK 3 101127606 101127606 single base substitution G A intron_variant ESAD-UK 3 101130252 101130252 single base substitution C A intron_variant ESAD-UK 3 101130499 101130499 single base substitution A T intron_variant ESAD-UK 3 101131305 101131305 single base substitution G C intron_variant ESAD-UK 3 101132581 101132581 deletion of <=200bp G - intron_variant ESAD-UK 3 101133689 101133689 single base substitution A G intron_variant ESAD-UK 3 101133704 101133704 single base substitution T A intron_variant ESAD-UK 3 101136299 101136299 single base substitution A C intron_variant ESAD-UK 3 101137659 101137659 single base substitution A C intron_variant ESAD-UK 3 101137786 101137786 single base substitution G A intron_variant ESAD-UK 3 101139168 101139168 single base substitution C T intron_variant ESAD-UK 3 101140163 101140163 single base substitution A G intron_variant ESAD-UK 3 101141643 101141643 single base substitution G C intron_variant ESAD-UK 3 101142973 101142973 single base substitution G A intron_variant ESAD-UK 3 101144234 101144234 single base substitution A C intron_variant ESAD-UK 3 101144736 101144736 single base substitution A C intron_variant ESAD-UK 3 101145446 101145446 single base substitution C T intron_variant ESAD-UK 3 101145491 101145491 insertion of <=200bp - T intron_variant ESAD-UK 3 101146132 101146132 single base substitution A G intron_variant ESAD-UK 3 101146966 101146966 single base substitution G C intron_variant ESAD-UK 3 101147293 101147293 single base substitution G A intron_variant ESAD-UK 3 101147486 101147486 single base substitution T G intron_variant ESAD-UK 3 101148624 101148624 single base substitution G C intron_variant ESAD-UK 3 101150180 101150180 single base substitution A C intron_variant ESAD-UK 3 101151139 101151139 single base substitution C A intron_variant ESAD-UK 3 101152141 101152141 single base substitution T C intron_variant ESAD-UK 3 101152238 101152238 single base substitution A C intron_variant ESAD-UK 3 101152768 101152768 single base substitution A C intron_variant ESAD-UK 3 101152820 101152820 single base substitution G T intron_variant ESAD-UK 3 101153333 101153333 single base substitution G T intron_variant ESAD-UK 3 101154618 101154618 single base substitution G C intron_variant ESAD-UK 3 101156422 101156422 single base substitution G A intron_variant ESAD-UK 3 101157335 101157335 single base substitution T C intron_variant ESAD-UK 3 101157792 101157792 insertion of <=200bp - C intron_variant ESAD-UK 3 101160515 101160515 single base substitution A C intron_variant ESAD-UK 3 101161750 101161750 single base substitution A G intron_variant ESAD-UK 3 101165398 101165398 single base substitution T C intron_variant ESAD-UK 3 101166057 101166057 single base substitution G A intron_variant ESAD-UK 3 101166548 101166548 single base substitution C T intron_variant ESAD-UK 3 101168025 101168025 single base substitution A C intron_variant ESAD-UK 3 101168788 101168788 single base substitution C A intron_variant ESAD-UK 3 101169394 101169394 single base substitution T C intron_variant ESAD-UK 3 101170482 101170482 single base substitution G T intron_variant ESAD-UK 3 101172722 101172722 single base substitution A T intron_variant ESAD-UK 3 101174223 101174223 single base substitution G T intron_variant ESAD-UK 3 101174628 101174628 single base substitution T C intron_variant ESAD-UK 3 101178607 101178607 single base substitution C T intron_variant ESAD-UK 3 101179195 101179195 single base substitution G T intron_variant ESAD-UK 3 101180195 101180195 single base substitution A C intron_variant ESAD-UK 3 101180589 101180589 insertion of <=200bp - A intron_variant ESAD-UK 3 101182014 101182014 single base substitution A G intron_variant ESAD-UK 3 101183404 101183404 single base substitution G C intron_variant ESAD-UK 3 101185245 101185245 single base substitution A G intron_variant ESAD-UK 3 101186096 101186096 single base substitution G A intron_variant ESAD-UK 3 101186846 101186846 single base substitution G A intron_variant ESAD-UK 3 101188140 101188140 single base substitution C T intron_variant ESAD-UK 3 101190376 101190376 single base substitution C T intron_variant ESAD-UK 3 101192370 101192370 single base substitution A G intron_variant ESAD-UK 3 101192784 101192784 single base substitution T C intron_variant ESAD-UK 3 101192809 101192809 single base substitution C T intron_variant ESAD-UK 3 101193064 101193064 single base substitution C T intron_variant ESAD-UK 3 101194558 101194558 insertion of <=200bp - A intron_variant ESAD-UK 3 101195621 101195621 single base substitution T C intron_variant ESAD-UK 3 101196065 101196065 single base substitution A T intron_variant ESAD-UK 3 101196586 101196586 single base substitution T G intron_variant ESAD-UK 3 101196779 101196779 single base substitution G A intron_variant ESAD-UK 3 101197208 101197208 single base substitution A T intron_variant ESAD-UK 3 101200420 101200420 single base substitution T G intron_variant ESAD-UK 3 101201599 101201599 single base substitution T G intron_variant ESAD-UK 3 101203359 101203359 single base substitution C G intron_variant ESAD-UK 3 101205149 101205149 single base substitution A T intron_variant ESAD-UK 3 101205366 101205366 single base substitution G A intron_variant ESAD-UK 3 101205746 101205746 single base substitution T C intron_variant ESAD-UK 3 101205746 101205746 single base substitution T G intron_variant ESAD-UK 3 101205794 101205794 single base substitution A C intron_variant ESAD-UK 3 101206928 101206928 single base substitution T C intron_variant ESAD-UK 3 101211043 101211043 single base substitution T G intron_variant ESAD-UK 3 101213908 101213908 single base substitution G A intron_variant ESAD-UK 3 101214036 101214038 deletion of <=200bp ACA - intron_variant ESAD-UK 3 101214257 101214257 single base substitution G T intron_variant ESAD-UK 3 101214785 101214785 single base substitution T C intron_variant ESAD-UK 3 101216061 101216061 single base substitution G C intron_variant ESAD-UK 3 101216184 101216184 single base substitution T C intron_variant ESAD-UK 3 101219204 101219204 single base substitution G A intron_variant ESAD-UK 3 101219246 101219246 single base substitution T A intron_variant ESAD-UK 3 101221827 101221827 single base substitution A C intron_variant ESAD-UK 3 101223888 101223888 single base substitution G A intron_variant ESAD-UK 3 101223912 101223912 single base substitution G A intron_variant ESAD-UK 3 101226418 101226418 deletion of <=200bp T - intron_variant ESAD-UK 3 101227384 101227384 single base substitution A C intron_variant ESAD-UK 3 101228236 101228236 single base substitution A G intron_variant ESAD-UK 3 101229653 101229653 single base substitution G A intron_variant ESAD-UK 3 101231582 101231582 single base substitution G A intron_variant ESAD-UK 3 101231594 101231594 single base substitution G C intron_variant ESAD-UK 3 101235623 101235623 single base substitution G T upstream_gene_variant ESAD-UK 3 101235840 101235840 single base substitution A G upstream_gene_variant ESAD-UK 3 101236504 101236504 single base substitution C T upstream_gene_variant ESAD-UK 3 101236764 101236764 single base substitution C A upstream_gene_variant ESCA-CN 3 101066583 101066583 single base substitution G A intron_variant ESCA-CN 3 101136509 101136509 single base substitution G A intron_variant ESCA-CN 3 101136509 101136509 single base substitution G A missense_variant S104L 311C>T ESCA-CN 3 101136509 101136509 single base substitution G A missense_variant S137L 410C>T GBM-US 3 101046635 101046635 single base substitution T C missense_variant K152E 454A>G GBM-US 3 101046635 101046635 single base substitution T C missense_variant K800E 2398A>G GBM-US 3 101046635 101046635 single base substitution T C missense_variant K898E 2692A>G GBM-US 3 101046635 101046635 single base substitution T C missense_variant K899E 2695A>G GBM-US 3 101046635 101046635 single base substitution T C missense_variant K931E 2791A>G GBM-US 3 101046635 101046635 single base substitution T C missense_variant K964E 2890A>G GBM-US 3 101080632 101080632 single base substitution T G missense_variant D353A 1058A>C GBM-US 3 101080632 101080632 single base substitution T G missense_variant D451A 1352A>C GBM-US 3 101080632 101080632 single base substitution T G missense_variant D452A 1355A>C GBM-US 3 101080632 101080632 single base substitution T G missense_variant D484A 1451A>C GBM-US 3 101080632 101080632 single base substitution T G missense_variant D517A 1550A>C GBM-US 3 101136587 101136587 single base substitution C T intron_variant GBM-US 3 101136587 101136587 single base substitution C T missense_variant R111Q 332G>A GBM-US 3 101136587 101136587 single base substitution C T missense_variant R78Q 233G>A KIRC-US 3 101038458 101038458 single base substitution C A downstream_gene_variant KIRC-US 3 101038459 101038459 single base substitution C A downstream_gene_variant KIRC-US 3 101060582 101060582 single base substitution C A synonymous_variant L552L 1656G>T KIRC-US 3 101060582 101060582 single base substitution C A synonymous_variant L650L 1950G>T KIRC-US 3 101060582 101060582 single base substitution C A synonymous_variant L651L 1953G>T KIRC-US 3 101060582 101060582 single base substitution C A synonymous_variant L683L 2049G>T KIRC-US 3 101060582 101060582 single base substitution C A synonymous_variant L716L 2148G>T KIRC-US 3 101060582 101060582 single base substitution C A upstream_gene_variant KIRC-US 3 101090968 101090968 deletion of <=200bp C - frameshift_variant G161 KIRC-US 3 101090968 101090968 deletion of <=200bp C - frameshift_variant G162 KIRC-US 3 101090968 101090968 deletion of <=200bp C - frameshift_variant G194 KIRC-US 3 101090968 101090968 deletion of <=200bp C - frameshift_variant G227 KIRC-US 3 101090968 101090968 deletion of <=200bp C - frameshift_variant G63 LAML-KR 3 101048800 101048800 single base substitution G A intron_variant LAML-KR 3 101049095 101049095 single base substitution C A intron_variant LAML-KR 3 101062850 101062850 single base substitution T C downstream_gene_variant LAML-KR 3 101062850 101062850 single base substitution T C intron_variant LAML-KR 3 101062850 101062850 single base substitution T C upstream_gene_variant LAML-KR 3 101076821 101076821 single base substitution T A intron_variant LAML-KR 3 101133342 101133342 single base substitution A T intron_variant LAML-KR 3 101158407 101158407 single base substitution C T intron_variant LAML-KR 3 101158408 101158408 single base substitution G A intron_variant LAML-KR 3 101158490 101158490 single base substitution G A intron_variant LAML-KR 3 101158776 101158776 single base substitution T C intron_variant LAML-KR 3 101158826 101158826 single base substitution G A intron_variant LAML-KR 3 101158891 101158891 single base substitution G A intron_variant LAML-KR 3 101158903 101158903 single base substitution G A intron_variant LAML-KR 3 101158955 101158955 single base substitution C A intron_variant LAML-KR 3 101159016 101159016 single base substitution C T intron_variant LAML-KR 3 101159420 101159420 single base substitution T A intron_variant LAML-KR 3 101219889 101219889 single base substitution G C intron_variant LAML-KR 3 101234596 101234596 single base substitution C T upstream_gene_variant LGG-US 3 101177814 101177814 single base substitution T G missense_variant K57T 170A>C LGG-US 3 101177814 101177814 single base substitution T G missense_variant K90T 269A>C LICA-CN 3 101070484 101070484 single base substitution T G missense_variant K381N 1143A>C LICA-CN 3 101070484 101070484 single base substitution T G missense_variant K479N 1437A>C LICA-CN 3 101070484 101070484 single base substitution T G missense_variant K480N 1440A>C LICA-CN 3 101070484 101070484 single base substitution T G missense_variant K512N 1536A>C LICA-CN 3 101070484 101070484 single base substitution T G missense_variant K545N 1635A>C LICA-CN 3 101070484 101070484 single base substitution T G upstream_gene_variant LICA-FR 3 101041857 101041857 single base substitution T A downstream_gene_variant LICA-FR 3 101056419 101056419 single base substitution C G exon_variant LICA-FR 3 101056419 101056419 single base substitution C G missense_variant S641T 1922G>C LICA-FR 3 101056419 101056419 single base substitution C G missense_variant S739T 2216G>C LICA-FR 3 101056419 101056419 single base substitution C G missense_variant S740T 2219G>C LICA-FR 3 101056419 101056419 single base substitution C G missense_variant S772T 2315G>C LICA-FR 3 101056419 101056419 single base substitution C G missense_variant S805T 2414G>C LICA-FR 3 101056419 101056419 single base substitution C G upstream_gene_variant LICA-FR 3 101080582 101080582 single base substitution C T missense_variant G370R 1108G>A LICA-FR 3 101080582 101080582 single base substitution C T missense_variant G468R 1402G>A LICA-FR 3 101080582 101080582 single base substitution C T missense_variant G469R 1405G>A LICA-FR 3 101080582 101080582 single base substitution C T missense_variant G501R 1501G>A LICA-FR 3 101080582 101080582 single base substitution C T missense_variant G534R 1600G>A LICA-FR 3 101093438 101093438 insertion of <=200bp - CCCA intron_variant LICA-FR 3 101100205 101100205 single base substitution T A intron_variant LICA-FR 3 101122057 101122057 single base substitution A G intron_variant LICA-FR 3 101122409 101122409 single base substitution T G intron_variant LICA-FR 3 101132895 101132895 single base substitution C T intron_variant LICA-FR 3 101163241 101163241 single base substitution T A intron_variant LICA-FR 3 101177898 101177898 single base substitution T C splice_acceptor_variant LICA-FR 3 101196069 101196069 single base substitution A T intron_variant LICA-FR 3 101199532 101199532 insertion of <=200bp - AA intron_variant LICA-FR 3 101233497 101233497 single base substitution C A upstream_gene_variant LIHC-US 3 101058948 101058948 single base substitution A T exon_variant LIHC-US 3 101058948 101058948 single base substitution A T missense_variant F619Y 1856T>A LIHC-US 3 101058948 101058948 single base substitution A T missense_variant F717Y 2150T>A LIHC-US 3 101058948 101058948 single base substitution A T missense_variant F718Y 2153T>A LIHC-US 3 101058948 101058948 single base substitution A T missense_variant F750Y 2249T>A LIHC-US 3 101058948 101058948 single base substitution A T missense_variant F783Y 2348T>A LIHC-US 3 101136470 101136470 single base substitution T C intron_variant LIHC-US 3 101136470 101136470 single base substitution T C missense_variant E117G 350A>G LIHC-US 3 101136470 101136470 single base substitution T C missense_variant E150G 449A>G LINC-JP 3 101038230 101038230 deletion of <=200bp A - downstream_gene_variant LINC-JP 3 101038433 101038433 single base substitution A G downstream_gene_variant LINC-JP 3 101051535 101051535 single base substitution T A downstream_gene_variant LINC-JP 3 101051535 101051535 single base substitution T A intron_variant LINC-JP 3 101066103 101066103 single base substitution T C downstream_gene_variant LINC-JP 3 101066103 101066103 single base substitution T C intron_variant LINC-JP 3 101070571 101070572 deletion of <=200bp CA - intron_variant LINC-JP 3 101070571 101070572 deletion of <=200bp CA - upstream_gene_variant LINC-JP 3 101074113 101074113 single base substitution T C intron_variant LINC-JP 3 101078836 101078836 single base substitution C T intron_variant LINC-JP 3 101090949 101090949 single base substitution T C synonymous_variant T167T 501A>G LINC-JP 3 101090949 101090949 single base substitution T C synonymous_variant T168T 504A>G LINC-JP 3 101090949 101090949 single base substitution T C synonymous_variant T200T 600A>G LINC-JP 3 101090949 101090949 single base substitution T C synonymous_variant T233T 699A>G LINC-JP 3 101090949 101090949 single base substitution T C synonymous_variant T69T 207A>G LINC-JP 3 101099279 101099279 single base substitution G C intron_variant LINC-JP 3 101103023 101103023 single base substitution T C intron_variant LINC-JP 3 101107138 101107138 single base substitution T A intron_variant LINC-JP 3 101112235 101112235 single base substitution G A intron_variant LINC-JP 3 101113293 101113293 single base substitution T C intron_variant LINC-JP 3 101114782 101114782 single base substitution T C intron_variant LINC-JP 3 101117778 101117778 single base substitution A G intron_variant LINC-JP 3 101117778 101117778 single base substitution A G missense_variant S136P 406T>C LINC-JP 3 101117778 101117778 single base substitution A G missense_variant S169P 505T>C LINC-JP 3 101117778 101117778 single base substitution A G missense_variant S202P 604T>C LINC-JP 3 101126618 101126618 single base substitution A C intron_variant LINC-JP 3 101131214 101131214 single base substitution T A intron_variant LINC-JP 3 101131546 101131546 single base substitution G T intron_variant LINC-JP 3 101136613 101136613 single base substitution C A intron_variant LINC-JP 3 101136613 101136613 single base substitution C A synonymous_variant T102T 306G>T LINC-JP 3 101136613 101136613 single base substitution C A synonymous_variant T69T 207G>T LINC-JP 3 101139108 101139108 single base substitution A T intron_variant LINC-JP 3 101165529 101165529 single base substitution T A intron_variant LINC-JP 3 101169602 101169602 single base substitution G A intron_variant LINC-JP 3 101187294 101187294 single base substitution G A intron_variant LINC-JP 3 101210133 101210133 single base substitution A T intron_variant LINC-JP 3 101223514 101223514 single base substitution T C intron_variant LINC-JP 3 101227484 101227484 single base substitution C T intron_variant LIRI-JP 3 101041822 101041822 single base substitution T C downstream_gene_variant LIRI-JP 3 101042072 101042072 single base substitution C A downstream_gene_variant LIRI-JP 3 101042874 101042874 single base substitution T A downstream_gene_variant LIRI-JP 3 101044640 101044640 single base substitution G A 3_prime_UTR_variant LIRI-JP 3 101044640 101044640 single base substitution G A downstream_gene_variant LIRI-JP 3 101045197 101045197 single base substitution C A intron_variant LIRI-JP 3 101045419 101045419 single base substitution G A intron_variant LIRI-JP 3 101045490 101045490 single base substitution T A intron_variant LIRI-JP 3 101045536 101045536 single base substitution T C intron_variant LIRI-JP 3 101045984 101045984 single base substitution T C intron_variant LIRI-JP 3 101046302 101046302 single base substitution G A intron_variant LIRI-JP 3 101046605 101046605 single base substitution T C missense_variant T162A 484A>G LIRI-JP 3 101046605 101046605 single base substitution T C missense_variant T810A 2428A>G LIRI-JP 3 101046605 101046605 single base substitution T C missense_variant T908A 2722A>G LIRI-JP 3 101046605 101046605 single base substitution T C missense_variant T909A 2725A>G LIRI-JP 3 101046605 101046605 single base substitution T C missense_variant T941A 2821A>G LIRI-JP 3 101046605 101046605 single base substitution T C missense_variant T974A 2920A>G LIRI-JP 3 101047933 101047933 single base substitution G C intron_variant LIRI-JP 3 101048121 101048121 single base substitution G T intron_variant LIRI-JP 3 101048269 101048284 deletion of <=200bp CGTATCAGTGACAGTA - intron_variant LIRI-JP 3 101056005 101056005 single base substitution G A exon_variant LIRI-JP 3 101056005 101056005 single base substitution G A intron_variant LIRI-JP 3 101056005 101056005 single base substitution G A upstream_gene_variant LIRI-JP 3 101056151 101056151 single base substitution G A exon_variant LIRI-JP 3 101056151 101056151 single base substitution G A intron_variant LIRI-JP 3 101056151 101056151 single base substitution G A upstream_gene_variant LIRI-JP 3 101058549 101058549 single base substitution T C intron_variant LIRI-JP 3 101062014 101062014 single base substitution G A downstream_gene_variant LIRI-JP 3 101062014 101062014 single base substitution G A intron_variant LIRI-JP 3 101062014 101062014 single base substitution G A upstream_gene_variant LIRI-JP 3 101062927 101062927 single base substitution C G downstream_gene_variant LIRI-JP 3 101062927 101062927 single base substitution C G intron_variant LIRI-JP 3 101062927 101062927 single base substitution C G upstream_gene_variant LIRI-JP 3 101063024 101063024 single base substitution T C downstream_gene_variant LIRI-JP 3 101063024 101063024 single base substitution T C intron_variant LIRI-JP 3 101063024 101063024 single base substitution T C upstream_gene_variant LIRI-JP 3 101063390 101063390 single base substitution T C downstream_gene_variant LIRI-JP 3 101063390 101063390 single base substitution T C intron_variant LIRI-JP 3 101063390 101063390 single base substitution T C upstream_gene_variant LIRI-JP 3 101064507 101064507 single base substitution T C downstream_gene_variant LIRI-JP 3 101064507 101064507 single base substitution T C intron_variant LIRI-JP 3 101065670 101065670 single base substitution G C downstream_gene_variant LIRI-JP 3 101065670 101065670 single base substitution G C intron_variant LIRI-JP 3 101065702 101065702 single base substitution G T downstream_gene_variant LIRI-JP 3 101065702 101065702 single base substitution G T intron_variant LIRI-JP 3 101067952 101067952 single base substitution C G intron_variant LIRI-JP 3 101067952 101067952 single base substitution C G upstream_gene_variant LIRI-JP 3 101068252 101068252 single base substitution T C intron_variant LIRI-JP 3 101068252 101068252 single base substitution T C upstream_gene_variant LIRI-JP 3 101069381 101069381 single base substitution T C intron_variant LIRI-JP 3 101069381 101069381 single base substitution T C upstream_gene_variant LIRI-JP 3 101069882 101069882 single base substitution A T intron_variant LIRI-JP 3 101069882 101069882 single base substitution A T upstream_gene_variant LIRI-JP 3 101070473 101070473 insertion of <=200bp - A frameshift_variant I385I? LIRI-JP 3 101070473 101070473 insertion of <=200bp - A frameshift_variant I483I? LIRI-JP 3 101070473 101070473 insertion of <=200bp - A frameshift_variant I484I? LIRI-JP 3 101070473 101070473 insertion of <=200bp - A frameshift_variant I516I? LIRI-JP 3 101070473 101070473 insertion of <=200bp - A frameshift_variant I549I? LIRI-JP 3 101070473 101070473 insertion of <=200bp - A upstream_gene_variant LIRI-JP 3 101072357 101072357 single base substitution C A intron_variant LIRI-JP 3 101073100 101073100 single base substitution T C intron_variant LIRI-JP 3 101073390 101073390 single base substitution T C intron_variant LIRI-JP 3 101074000 101074000 single base substitution T A intron_variant LIRI-JP 3 101075490 101075490 single base substitution T C intron_variant LIRI-JP 3 101076443 101076443 single base substitution A G intron_variant LIRI-JP 3 101076878 101076878 single base substitution G T intron_variant LIRI-JP 3 101081829 101081829 single base substitution T A intron_variant LIRI-JP 3 101082784 101082784 single base substitution G A intron_variant LIRI-JP 3 101087209 101087209 single base substitution G C intron_variant LIRI-JP 3 101087545 101087545 single base substitution T C intron_variant LIRI-JP 3 101088403 101088403 single base substitution T A intron_variant LIRI-JP 3 101090050 101090050 single base substitution T G intron_variant LIRI-JP 3 101091697 101091697 single base substitution T C intron_variant LIRI-JP 3 101092021 101092021 single base substitution T C intron_variant LIRI-JP 3 101095538 101095538 single base substitution T A intron_variant LIRI-JP 3 101097790 101097790 single base substitution A G intron_variant LIRI-JP 3 101098731 101098731 single base substitution G A intron_variant LIRI-JP 3 101101214 101101214 single base substitution G C intron_variant LIRI-JP 3 101102645 101102645 single base substitution T C intron_variant LIRI-JP 3 101102991 101102991 single base substitution G T intron_variant LIRI-JP 3 101103525 101103525 single base substitution G A intron_variant LIRI-JP 3 101104160 101104160 single base substitution G A intron_variant LIRI-JP 3 101108440 101108440 single base substitution A T intron_variant LIRI-JP 3 101109621 101109621 single base substitution C T intron_variant LIRI-JP 3 101110680 101110680 single base substitution T A intron_variant LIRI-JP 3 101111220 101111220 single base substitution C A intron_variant LIRI-JP 3 101111221 101111221 single base substitution A C intron_variant LIRI-JP 3 101111275 101111275 single base substitution T C intron_variant LIRI-JP 3 101111709 101111709 single base substitution T A intron_variant LIRI-JP 3 101112316 101112316 single base substitution G A intron_variant LIRI-JP 3 101113465 101113465 single base substitution T A intron_variant LIRI-JP 3 101114852 101114852 single base substitution C T intron_variant LIRI-JP 3 101115728 101115728 single base substitution C A intron_variant LIRI-JP 3 101115736 101115736 single base substitution G A intron_variant LIRI-JP 3 101115813 101115813 single base substitution A G intron_variant LIRI-JP 3 101116006 101116006 single base substitution C A intron_variant LIRI-JP 3 101116389 101116389 single base substitution G C intron_variant LIRI-JP 3 101116526 101116526 single base substitution T A intron_variant LIRI-JP 3 101118290 101118290 single base substitution T A intron_variant LIRI-JP 3 101120520 101120520 single base substitution C T intron_variant LIRI-JP 3 101124080 101124080 single base substitution T A intron_variant LIRI-JP 3 101128120 101128120 single base substitution A G intron_variant LIRI-JP 3 101129734 101129734 single base substitution G T intron_variant LIRI-JP 3 101129791 101129791 single base substitution T C intron_variant LIRI-JP 3 101129818 101129818 single base substitution G C intron_variant LIRI-JP 3 101133642 101133642 single base substitution C A intron_variant LIRI-JP 3 101135575 101135575 single base substitution A G intron_variant LIRI-JP 3 101135833 101135833 single base substitution T A intron_variant LIRI-JP 3 101139279 101139280 deletion of <=200bp AG - intron_variant LIRI-JP 3 101141539 101141539 single base substitution T A intron_variant LIRI-JP 3 101141956 101141956 single base substitution G A intron_variant LIRI-JP 3 101143054 101143054 single base substitution C A intron_variant LIRI-JP 3 101143311 101143311 single base substitution G A intron_variant LIRI-JP 3 101145321 101145321 single base substitution A C intron_variant LIRI-JP 3 101145845 101145845 single base substitution C T intron_variant LIRI-JP 3 101145860 101145860 single base substitution T A intron_variant LIRI-JP 3 101148600 101148600 single base substitution T C intron_variant LIRI-JP 3 101149318 101149318 single base substitution T C intron_variant LIRI-JP 3 101149654 101149654 single base substitution T A intron_variant LIRI-JP 3 101150425 101150425 single base substitution C A intron_variant LIRI-JP 3 101152412 101152412 single base substitution T C intron_variant LIRI-JP 3 101154362 101154362 single base substitution C T intron_variant LIRI-JP 3 101156115 101156115 single base substitution T C intron_variant LIRI-JP 3 101156979 101156979 single base substitution G A intron_variant LIRI-JP 3 101159680 101159680 single base substitution T C intron_variant LIRI-JP 3 101163827 101163827 single base substitution T C intron_variant LIRI-JP 3 101165284 101165284 single base substitution T C intron_variant LIRI-JP 3 101167529 101167529 single base substitution C T intron_variant LIRI-JP 3 101173342 101173342 single base substitution G A intron_variant LIRI-JP 3 101173391 101173391 single base substitution T C intron_variant LIRI-JP 3 101174021 101174021 single base substitution T C intron_variant LIRI-JP 3 101174733 101174733 single base substitution A G intron_variant LIRI-JP 3 101175215 101175215 single base substitution T C intron_variant LIRI-JP 3 101177316 101177316 single base substitution T C intron_variant LIRI-JP 3 101177853 101177853 single base substitution T C missense_variant K44R 131A>G LIRI-JP 3 101177853 101177853 single base substitution T C missense_variant K77R 230A>G LIRI-JP 3 101178987 101178987 single base substitution C T intron_variant LIRI-JP 3 101179302 101179302 single base substitution T G intron_variant LIRI-JP 3 101179316 101179316 single base substitution T C intron_variant LIRI-JP 3 101179627 101179627 single base substitution A T intron_variant LIRI-JP 3 101180575 101180575 single base substitution T C intron_variant LIRI-JP 3 101180931 101180931 single base substitution G T intron_variant LIRI-JP 3 101184253 101184253 single base substitution T C intron_variant LIRI-JP 3 101184661 101184661 single base substitution G C intron_variant LIRI-JP 3 101185008 101185008 single base substitution T C intron_variant LIRI-JP 3 101186765 101186765 single base substitution G A intron_variant LIRI-JP 3 101187076 101187076 single base substitution T C intron_variant LIRI-JP 3 101189502 101189502 single base substitution G A intron_variant LIRI-JP 3 101191575 101191575 single base substitution G A intron_variant LIRI-JP 3 101191600 101191600 single base substitution T C intron_variant LIRI-JP 3 101192062 101192062 single base substitution A G intron_variant LIRI-JP 3 101192335 101192335 single base substitution T C intron_variant LIRI-JP 3 101192532 101192532 single base substitution T C intron_variant LIRI-JP 3 101193917 101193917 single base substitution G T intron_variant LIRI-JP 3 101194385 101194385 single base substitution T G intron_variant LIRI-JP 3 101195831 101195831 single base substitution T C intron_variant LIRI-JP 3 101199091 101199091 single base substitution C T intron_variant LIRI-JP 3 101199153 101199153 single base substitution G C intron_variant LIRI-JP 3 101199228 101199228 single base substitution T C intron_variant LIRI-JP 3 101199448 101199448 single base substitution A C intron_variant LIRI-JP 3 101199626 101199626 single base substitution A G intron_variant LIRI-JP 3 101200175 101200175 single base substitution T C intron_variant LIRI-JP 3 101200786 101200786 single base substitution A G intron_variant LIRI-JP 3 101200915 101200915 single base substitution G A intron_variant LIRI-JP 3 101201754 101201754 single base substitution A T intron_variant LIRI-JP 3 101201866 101201866 single base substitution G A intron_variant LIRI-JP 3 101201951 101201951 single base substitution G C intron_variant LIRI-JP 3 101203394 101203394 single base substitution T A intron_variant LIRI-JP 3 101205876 101205876 single base substitution T C intron_variant LIRI-JP 3 101209606 101209606 single base substitution T C intron_variant LIRI-JP 3 101212768 101212768 single base substitution T C synonymous_variant Q12Q 36A>G LIRI-JP 3 101212768 101212768 single base substitution T C synonymous_variant Q45Q 135A>G LIRI-JP 3 101213896 101213896 single base substitution C T intron_variant LIRI-JP 3 101214322 101214322 single base substitution T C intron_variant LIRI-JP 3 101215650 101215650 single base substitution G A intron_variant LIRI-JP 3 101219519 101219519 single base substitution G A intron_variant LIRI-JP 3 101220961 101220961 single base substitution G A intron_variant LIRI-JP 3 101221218 101221218 single base substitution C T intron_variant LIRI-JP 3 101222113 101222113 single base substitution T C intron_variant LIRI-JP 3 101222779 101222779 single base substitution G C intron_variant LIRI-JP 3 101226785 101226785 single base substitution C A intron_variant LIRI-JP 3 101228035 101228035 deletion of <=200bp C - intron_variant LIRI-JP 3 101228103 101228103 single base substitution C G intron_variant LIRI-JP 3 101232978 101232978 single base substitution C T upstream_gene_variant LIRI-JP 3 101235335 101235335 single base substitution G A upstream_gene_variant LUSC-KR 3 101042652 101042652 single base substitution C G downstream_gene_variant LUSC-KR 3 101047401 101047401 single base substitution C T intron_variant LUSC-KR 3 101048832 101048832 single base substitution T A intron_variant LUSC-KR 3 101051949 101051949 single base substitution C G 5_prime_UTR_variant LUSC-KR 3 101051949 101051949 single base substitution C G downstream_gene_variant LUSC-KR 3 101051949 101051949 single base substitution C G intron_variant LUSC-KR 3 101056627 101056627 single base substitution T G intron_variant LUSC-KR 3 101056627 101056627 single base substitution T G upstream_gene_variant LUSC-KR 3 101056983 101056983 single base substitution C A intron_variant LUSC-KR 3 101056983 101056983 single base substitution C A upstream_gene_variant LUSC-KR 3 101057450 101057450 single base substitution T G intron_variant LUSC-KR 3 101059163 101059163 single base substitution C A exon_variant LUSC-KR 3 101059163 101059163 single base substitution C A intron_variant LUSC-KR 3 101059956 101059956 single base substitution C A intron_variant LUSC-KR 3 101059956 101059956 single base substitution C A upstream_gene_variant LUSC-KR 3 101060796 101060796 single base substitution G C intron_variant LUSC-KR 3 101060796 101060796 single base substitution G C upstream_gene_variant LUSC-KR 3 101069517 101069517 single base substitution G C intron_variant LUSC-KR 3 101069517 101069517 single base substitution G C upstream_gene_variant LUSC-KR 3 101070959 101070959 single base substitution C T intron_variant LUSC-KR 3 101070959 101070959 single base substitution C T upstream_gene_variant LUSC-KR 3 101074156 101074156 single base substitution T A intron_variant LUSC-KR 3 101074471 101074471 single base substitution T C intron_variant LUSC-KR 3 101074852 101074852 single base substitution C T intron_variant LUSC-KR 3 101076785 101076785 single base substitution C T intron_variant LUSC-KR 3 101078277 101078277 single base substitution C A intron_variant LUSC-KR 3 101080630 101080630 single base substitution G C missense_variant L354V 1060C>G LUSC-KR 3 101080630 101080630 single base substitution G C missense_variant L452V 1354C>G LUSC-KR 3 101080630 101080630 single base substitution G C missense_variant L453V 1357C>G LUSC-KR 3 101080630 101080630 single base substitution G C missense_variant L485V 1453C>G LUSC-KR 3 101080630 101080630 single base substitution G C missense_variant L518V 1552C>G LUSC-KR 3 101081601 101081601 single base substitution C G intron_variant LUSC-KR 3 101087004 101087004 single base substitution T C intron_variant LUSC-KR 3 101091151 101091151 single base substitution C T intron_variant LUSC-KR 3 101092049 101092049 single base substitution G C intron_variant LUSC-KR 3 101092204 101092204 single base substitution T C intron_variant LUSC-KR 3 101093434 101093434 single base substitution T C intron_variant LUSC-KR 3 101095744 101095744 single base substitution T A intron_variant LUSC-KR 3 101096793 101096793 single base substitution C T intron_variant LUSC-KR 3 101096983 101096983 single base substitution C A intron_variant LUSC-KR 3 101097717 101097717 single base substitution C A intron_variant LUSC-KR 3 101097901 101097901 single base substitution T C intron_variant LUSC-KR 3 101098634 101098634 single base substitution G C intron_variant LUSC-KR 3 101098921 101098921 single base substitution C A intron_variant LUSC-KR 3 101099145 101099145 single base substitution C T intron_variant LUSC-KR 3 101099802 101099802 single base substitution C A intron_variant LUSC-KR 3 101101138 101101138 single base substitution A G intron_variant LUSC-KR 3 101101261 101101261 single base substitution C T intron_variant LUSC-KR 3 101102949 101102949 single base substitution G A intron_variant LUSC-KR 3 101104377 101104377 single base substitution C T intron_variant LUSC-KR 3 101104908 101104908 single base substitution C T intron_variant LUSC-KR 3 101107391 101107391 single base substitution C A intron_variant LUSC-KR 3 101121480 101121480 single base substitution T A intron_variant LUSC-KR 3 101128225 101128225 single base substitution T C intron_variant LUSC-KR 3 101130717 101130717 single base substitution C T intron_variant LUSC-KR 3 101137181 101137181 single base substitution C A intron_variant LUSC-KR 3 101138927 101138927 single base substitution G C intron_variant LUSC-KR 3 101140600 101140600 single base substitution T C intron_variant LUSC-KR 3 101149372 101149372 single base substitution G A intron_variant LUSC-KR 3 101150040 101150040 single base substitution C T intron_variant LUSC-KR 3 101153135 101153135 single base substitution G C intron_variant LUSC-KR 3 101156092 101156092 single base substitution C A intron_variant LUSC-KR 3 101158109 101158109 single base substitution C T intron_variant LUSC-KR 3 101158217 101158217 single base substitution G C intron_variant LUSC-KR 3 101158424 101158424 single base substitution C T intron_variant LUSC-KR 3 101158456 101158456 single base substitution C T intron_variant LUSC-KR 3 101158557 101158557 single base substitution G A intron_variant LUSC-KR 3 101158568 101158568 single base substitution A G intron_variant LUSC-KR 3 101158596 101158596 single base substitution C T intron_variant LUSC-KR 3 101158606 101158606 single base substitution G A intron_variant LUSC-KR 3 101158733 101158733 single base substitution G A intron_variant LUSC-KR 3 101158813 101158813 single base substitution G A intron_variant LUSC-KR 3 101158821 101158821 single base substitution G A intron_variant LUSC-KR 3 101159017 101159017 single base substitution G A intron_variant LUSC-KR 3 101159017 101159017 single base substitution G C intron_variant LUSC-KR 3 101159081 101159081 single base substitution C T intron_variant LUSC-KR 3 101159242 101159242 single base substitution A C intron_variant LUSC-KR 3 101162424 101162424 single base substitution G C intron_variant LUSC-KR 3 101163626 101163626 single base substitution A T intron_variant LUSC-KR 3 101165520 101165520 single base substitution C A intron_variant LUSC-KR 3 101173342 101173342 single base substitution G A intron_variant LUSC-KR 3 101174400 101174400 single base substitution A G intron_variant LUSC-KR 3 101174453 101174453 single base substitution G A intron_variant LUSC-KR 3 101179823 101179823 single base substitution T A intron_variant LUSC-KR 3 101187638 101187638 single base substitution C A intron_variant LUSC-KR 3 101198992 101198992 single base substitution C G intron_variant LUSC-KR 3 101204913 101204913 single base substitution G A intron_variant LUSC-KR 3 101210190 101210190 single base substitution A C intron_variant LUSC-KR 3 101210795 101210795 single base substitution G C intron_variant LUSC-KR 3 101211704 101211704 single base substitution C A intron_variant LUSC-KR 3 101212596 101212596 single base substitution T C intron_variant LUSC-KR 3 101222820 101222820 single base substitution T C intron_variant LUSC-KR 3 101231695 101231695 single base substitution G A intron_variant LUSC-KR 3 101232102 101232102 single base substitution C A upstream_gene_variant LUSC-KR 3 101233435 101233435 single base substitution A G upstream_gene_variant LUSC-KR 3 101235633 101235633 single base substitution C A upstream_gene_variant LUSC-US 3 101038473 101038473 single base substitution C A downstream_gene_variant LUSC-US 3 101044876 101044876 single base substitution G T missense_variant P1022T 3064C>A LUSC-US 3 101044876 101044876 single base substitution G T missense_variant P210T 628C>A LUSC-US 3 101044876 101044876 single base substitution G T missense_variant P858T 2572C>A LUSC-US 3 101044876 101044876 single base substitution G T missense_variant P956T 2866C>A LUSC-US 3 101044876 101044876 single base substitution G T missense_variant P957T 2869C>A LUSC-US 3 101044876 101044876 single base substitution G T missense_variant P989T 2965C>A LUSC-US 3 101051624 101051624 single base substitution C A downstream_gene_variant LUSC-US 3 101051624 101051624 single base substitution C A missense_variant V43L 127G>T LUSC-US 3 101051624 101051624 single base substitution C A missense_variant V691L 2071G>T LUSC-US 3 101051624 101051624 single base substitution C A missense_variant V789L 2365G>T LUSC-US 3 101051624 101051624 single base substitution C A missense_variant V790L 2368G>T LUSC-US 3 101051624 101051624 single base substitution C A missense_variant V822L 2464G>T LUSC-US 3 101051624 101051624 single base substitution C A missense_variant V855L 2563G>T LUSC-US 3 101062529 101062529 single base substitution C A downstream_gene_variant LUSC-US 3 101062529 101062529 single base substitution C A splice_donor_variant LUSC-US 3 101062529 101062529 single base substitution C A upstream_gene_variant LUSC-US 3 101086710 101086710 single base substitution T C synonymous_variant Q150Q 450A>G LUSC-US 3 101086710 101086710 single base substitution T C synonymous_variant Q248Q 744A>G LUSC-US 3 101086710 101086710 single base substitution T C synonymous_variant Q249Q 747A>G LUSC-US 3 101086710 101086710 single base substitution T C synonymous_variant Q281Q 843A>G LUSC-US 3 101086710 101086710 single base substitution T C synonymous_variant Q314Q 942A>G LUSC-US 3 101117745 101117745 single base substitution G C intron_variant LUSC-US 3 101117745 101117745 single base substitution G C missense_variant Q147E 439C>G LUSC-US 3 101117745 101117745 single base substitution G C missense_variant Q180E 538C>G LUSC-US 3 101117745 101117745 single base substitution G C missense_variant Q213E 637C>G MALY-DE 3 101038109 101038109 insertion of <=200bp - A downstream_gene_variant MALY-DE 3 101039882 101039882 single base substitution C T downstream_gene_variant MALY-DE 3 101047405 101047405 single base substitution G C intron_variant MALY-DE 3 101071050 101071050 single base substitution A C intron_variant MALY-DE 3 101071050 101071050 single base substitution A C upstream_gene_variant MALY-DE 3 101076954 101076954 single base substitution A C intron_variant MALY-DE 3 101077102 101077102 single base substitution C A intron_variant MALY-DE 3 101087856 101087856 single base substitution T A intron_variant MALY-DE 3 101093444 101093445 deletion of <=200bp CA - intron_variant MALY-DE 3 101094252 101094252 single base substitution T C intron_variant MALY-DE 3 101103525 101103525 single base substitution G A intron_variant MALY-DE 3 101111528 101111528 single base substitution C A intron_variant MALY-DE 3 101116617 101116617 deletion of <=200bp A - intron_variant MALY-DE 3 101117525 101117525 insertion of <=200bp - CATTATTAGTC intron_variant MALY-DE 3 101124577 101124577 single base substitution A C intron_variant MALY-DE 3 101125699 101125699 single base substitution G T intron_variant MALY-DE 3 101129078 101129078 single base substitution G A intron_variant MALY-DE 3 101132114 101132114 single base substitution G A intron_variant MALY-DE 3 101133542 101133542 single base substitution C T intron_variant MALY-DE 3 101133548 101133548 single base substitution T C intron_variant MALY-DE 3 101134586 101134586 deletion of <=200bp T - intron_variant MALY-DE 3 101141059 101141059 single base substitution T A intron_variant MALY-DE 3 101142235 101142235 single base substitution G C intron_variant MALY-DE 3 101143728 101143728 single base substitution A G intron_variant MALY-DE 3 101149170 101149170 single base substitution T C intron_variant MALY-DE 3 101151778 101151778 single base substitution T C intron_variant MALY-DE 3 101155178 101155178 single base substitution G A intron_variant MALY-DE 3 101166604 101166604 single base substitution A T intron_variant MALY-DE 3 101168206 101168206 single base substitution T G intron_variant MALY-DE 3 101175042 101175042 single base substitution T G intron_variant MALY-DE 3 101197426 101197426 single base substitution G A intron_variant MALY-DE 3 101219391 101219391 single base substitution A T intron_variant MALY-DE 3 101221760 101221760 single base substitution A C intron_variant MELA-AU 3 101038432 101038432 single base substitution G A downstream_gene_variant MELA-AU 3 101038506 101038506 single base substitution G A downstream_gene_variant MELA-AU 3 101040606 101040606 single base substitution G T downstream_gene_variant MELA-AU 3 101041342 101041342 single base substitution G A downstream_gene_variant MELA-AU 3 101041879 101041879 single base substitution G A downstream_gene_variant MELA-AU 3 101041953 101041953 single base substitution G A downstream_gene_variant MELA-AU 3 101042326 101042326 single base substitution G A downstream_gene_variant MELA-AU 3 101042478 101042478 single base substitution G A downstream_gene_variant MELA-AU 3 101042958 101042958 single base substitution C T downstream_gene_variant MELA-AU 3 101043219 101043219 single base substitution G A 3_prime_UTR_variant MELA-AU 3 101043219 101043219 single base substitution G A downstream_gene_variant MELA-AU 3 101044572 101044572 single base substitution C T 3_prime_UTR_variant MELA-AU 3 101044572 101044572 single base substitution C T downstream_gene_variant MELA-AU 3 101044876 101044876 single base substitution G A missense_variant P1022S 3064C>T MELA-AU 3 101044876 101044876 single base substitution G A missense_variant P210S 628C>T MELA-AU 3 101044876 101044876 single base substitution G A missense_variant P858S 2572C>T MELA-AU 3 101044876 101044876 single base substitution G A missense_variant P956S 2866C>T MELA-AU 3 101044876 101044876 single base substitution G A missense_variant P957S 2869C>T MELA-AU 3 101044876 101044876 single base substitution G A missense_variant P989S 2965C>T MELA-AU 3 101044945 101044945 single base substitution G A intron_variant MELA-AU 3 101045174 101045175 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 101045186 101045186 single base substitution G A intron_variant MELA-AU 3 101045187 101045187 single base substitution G A intron_variant MELA-AU 3 101045730 101045730 single base substitution C T intron_variant MELA-AU 3 101046462 101046462 single base substitution C T intron_variant MELA-AU 3 101047992 101047992 deletion of <=200bp A - intron_variant MELA-AU 3 101048911 101048911 single base substitution G A intron_variant MELA-AU 3 101049104 101049104 single base substitution A T intron_variant MELA-AU 3 101049547 101049547 single base substitution G A intron_variant MELA-AU 3 101049666 101049666 single base substitution C T intron_variant MELA-AU 3 101049681 101049681 single base substitution G A intron_variant MELA-AU 3 101049897 101049897 single base substitution G A intron_variant MELA-AU 3 101051460 101051460 single base substitution G A downstream_gene_variant MELA-AU 3 101051460 101051460 single base substitution G A intron_variant MELA-AU 3 101051495 101051495 single base substitution T G downstream_gene_variant MELA-AU 3 101051495 101051495 single base substitution T G intron_variant MELA-AU 3 101051761 101051761 single base substitution G A 5_prime_UTR_variant MELA-AU 3 101051761 101051761 single base substitution G A downstream_gene_variant MELA-AU 3 101051761 101051761 single base substitution G A intron_variant MELA-AU 3 101052489 101052489 single base substitution G A downstream_gene_variant MELA-AU 3 101052489 101052489 single base substitution G A intron_variant MELA-AU 3 101052489 101052489 single base substitution G A upstream_gene_variant MELA-AU 3 101052597 101052597 single base substitution A T downstream_gene_variant MELA-AU 3 101052597 101052597 single base substitution A T intron_variant MELA-AU 3 101052597 101052597 single base substitution A T upstream_gene_variant MELA-AU 3 101052632 101052632 single base substitution G A downstream_gene_variant MELA-AU 3 101052632 101052632 single base substitution G A intron_variant MELA-AU 3 101052632 101052632 single base substitution G A upstream_gene_variant MELA-AU 3 101052768 101052768 single base substitution G A downstream_gene_variant MELA-AU 3 101052768 101052768 single base substitution G A intron_variant MELA-AU 3 101052768 101052768 single base substitution G A upstream_gene_variant MELA-AU 3 101052830 101052830 single base substitution G A downstream_gene_variant MELA-AU 3 101052830 101052830 single base substitution G A intron_variant MELA-AU 3 101052830 101052830 single base substitution G A upstream_gene_variant MELA-AU 3 101053174 101053174 single base substitution G A downstream_gene_variant MELA-AU 3 101053174 101053174 single base substitution G A intron_variant MELA-AU 3 101053174 101053174 single base substitution G A upstream_gene_variant MELA-AU 3 101053178 101053178 single base substitution G A downstream_gene_variant MELA-AU 3 101053178 101053178 single base substitution G A intron_variant MELA-AU 3 101053178 101053178 single base substitution G A upstream_gene_variant MELA-AU 3 101053449 101053449 single base substitution A C downstream_gene_variant MELA-AU 3 101053449 101053449 single base substitution A C intron_variant MELA-AU 3 101053449 101053449 single base substitution A C upstream_gene_variant MELA-AU 3 101053460 101053460 single base substitution A T downstream_gene_variant MELA-AU 3 101053460 101053460 single base substitution A T intron_variant MELA-AU 3 101053460 101053460 single base substitution A T upstream_gene_variant MELA-AU 3 101053735 101053735 single base substitution G A downstream_gene_variant MELA-AU 3 101053735 101053735 single base substitution G A intron_variant MELA-AU 3 101053735 101053735 single base substitution G A upstream_gene_variant MELA-AU 3 101054006 101054006 single base substitution G A downstream_gene_variant MELA-AU 3 101054006 101054006 single base substitution G A intron_variant MELA-AU 3 101054006 101054006 single base substitution G A upstream_gene_variant MELA-AU 3 101054191 101054191 single base substitution G A downstream_gene_variant MELA-AU 3 101054191 101054191 single base substitution G A intron_variant MELA-AU 3 101054191 101054191 single base substitution G A upstream_gene_variant MELA-AU 3 101054543 101054543 single base substitution C G downstream_gene_variant MELA-AU 3 101054543 101054543 single base substitution C G intron_variant MELA-AU 3 101054543 101054543 single base substitution C G upstream_gene_variant MELA-AU 3 101054999 101054999 single base substitution A G downstream_gene_variant MELA-AU 3 101054999 101054999 single base substitution A G intron_variant MELA-AU 3 101054999 101054999 single base substitution A G upstream_gene_variant MELA-AU 3 101055173 101055173 single base substitution C T downstream_gene_variant MELA-AU 3 101055173 101055173 single base substitution C T intron_variant MELA-AU 3 101055173 101055173 single base substitution C T upstream_gene_variant MELA-AU 3 101055691 101055691 single base substitution T A downstream_gene_variant MELA-AU 3 101055691 101055691 single base substitution T A intron_variant MELA-AU 3 101055691 101055691 single base substitution T A upstream_gene_variant MELA-AU 3 101056129 101056129 single base substitution G A exon_variant MELA-AU 3 101056129 101056129 single base substitution G A intron_variant MELA-AU 3 101056129 101056129 single base substitution G A upstream_gene_variant MELA-AU 3 101056265 101056265 single base substitution G A exon_variant MELA-AU 3 101056265 101056265 single base substitution G A intron_variant MELA-AU 3 101056265 101056265 single base substitution G A upstream_gene_variant MELA-AU 3 101056553 101056553 single base substitution G A intron_variant MELA-AU 3 101056553 101056553 single base substitution G A upstream_gene_variant MELA-AU 3 101056846 101056846 single base substitution A T intron_variant MELA-AU 3 101056846 101056846 single base substitution A T upstream_gene_variant MELA-AU 3 101056975 101056975 single base substitution T C intron_variant MELA-AU 3 101056975 101056975 single base substitution T C upstream_gene_variant MELA-AU 3 101057469 101057469 single base substitution C G intron_variant MELA-AU 3 101057981 101057981 single base substitution T C intron_variant MELA-AU 3 101058083 101058083 single base substitution G A intron_variant MELA-AU 3 101058138 101058138 single base substitution G A intron_variant MELA-AU 3 101058870 101058870 single base substitution A G intron_variant MELA-AU 3 101059200 101059200 single base substitution G A exon_variant MELA-AU 3 101059200 101059200 single base substitution G A intron_variant MELA-AU 3 101059890 101059890 single base substitution G A intron_variant MELA-AU 3 101059890 101059890 single base substitution G A upstream_gene_variant MELA-AU 3 101060585 101060585 single base substitution G A synonymous_variant F551F 1653C>T MELA-AU 3 101060585 101060585 single base substitution G A synonymous_variant F649F 1947C>T MELA-AU 3 101060585 101060585 single base substitution G A synonymous_variant F650F 1950C>T MELA-AU 3 101060585 101060585 single base substitution G A synonymous_variant F682F 2046C>T MELA-AU 3 101060585 101060585 single base substitution G A synonymous_variant F715F 2145C>T MELA-AU 3 101060585 101060585 single base substitution G A upstream_gene_variant MELA-AU 3 101060920 101060920 single base substitution G A intron_variant MELA-AU 3 101060920 101060920 single base substitution G A upstream_gene_variant MELA-AU 3 101061613 101061613 single base substitution G A downstream_gene_variant MELA-AU 3 101061613 101061613 single base substitution G A intron_variant MELA-AU 3 101061613 101061613 single base substitution G A upstream_gene_variant MELA-AU 3 101061948 101061948 single base substitution G A downstream_gene_variant MELA-AU 3 101061948 101061948 single base substitution G A intron_variant MELA-AU 3 101061948 101061948 single base substitution G A upstream_gene_variant MELA-AU 3 101061951 101061951 single base substitution G A downstream_gene_variant MELA-AU 3 101061951 101061951 single base substitution G A intron_variant MELA-AU 3 101061951 101061951 single base substitution G A upstream_gene_variant MELA-AU 3 101062418 101062418 single base substitution G A downstream_gene_variant MELA-AU 3 101062418 101062418 single base substitution G A intron_variant MELA-AU 3 101062418 101062418 single base substitution G A upstream_gene_variant MELA-AU 3 101062618 101062618 single base substitution G T downstream_gene_variant MELA-AU 3 101062618 101062618 single base substitution G T missense_variant S509Y 1526C>A MELA-AU 3 101062618 101062618 single base substitution G T missense_variant S607Y 1820C>A MELA-AU 3 101062618 101062618 single base substitution G T missense_variant S608Y 1823C>A MELA-AU 3 101062618 101062618 single base substitution G T missense_variant S640Y 1919C>A MELA-AU 3 101062618 101062618 single base substitution G T missense_variant S673Y 2018C>A MELA-AU 3 101062618 101062618 single base substitution G T upstream_gene_variant MELA-AU 3 101062652 101062652 single base substitution G A downstream_gene_variant MELA-AU 3 101062652 101062652 single base substitution G A missense_variant P498S 1492C>T MELA-AU 3 101062652 101062652 single base substitution G A missense_variant P596S 1786C>T MELA-AU 3 101062652 101062652 single base substitution G A missense_variant P597S 1789C>T MELA-AU 3 101062652 101062652 single base substitution G A missense_variant P629S 1885C>T MELA-AU 3 101062652 101062652 single base substitution G A missense_variant P662S 1984C>T MELA-AU 3 101062652 101062652 single base substitution G A upstream_gene_variant MELA-AU 3 101062776 101062776 single base substitution G A downstream_gene_variant MELA-AU 3 101062776 101062776 single base substitution G A synonymous_variant F456F 1368C>T MELA-AU 3 101062776 101062776 single base substitution G A synonymous_variant F554F 1662C>T MELA-AU 3 101062776 101062776 single base substitution G A synonymous_variant F555F 1665C>T MELA-AU 3 101062776 101062776 single base substitution G A synonymous_variant F587F 1761C>T MELA-AU 3 101062776 101062776 single base substitution G A synonymous_variant F620F 1860C>T MELA-AU 3 101062776 101062776 single base substitution G A upstream_gene_variant MELA-AU 3 101062808 101062808 single base substitution G A downstream_gene_variant MELA-AU 3 101062808 101062808 single base substitution G A intron_variant MELA-AU 3 101062808 101062808 single base substitution G A upstream_gene_variant MELA-AU 3 101063283 101063283 single base substitution G A downstream_gene_variant MELA-AU 3 101063283 101063283 single base substitution G A intron_variant MELA-AU 3 101063283 101063283 single base substitution G A upstream_gene_variant MELA-AU 3 101063308 101063308 single base substitution G A downstream_gene_variant MELA-AU 3 101063308 101063308 single base substitution G A intron_variant MELA-AU 3 101063308 101063308 single base substitution G A upstream_gene_variant MELA-AU 3 101063746 101063746 single base substitution G A downstream_gene_variant MELA-AU 3 101063746 101063746 single base substitution G A intron_variant MELA-AU 3 101063746 101063746 single base substitution G A upstream_gene_variant MELA-AU 3 101063800 101063800 single base substitution A G downstream_gene_variant MELA-AU 3 101063800 101063800 single base substitution A G intron_variant MELA-AU 3 101063800 101063800 single base substitution A G upstream_gene_variant MELA-AU 3 101064618 101064618 single base substitution G A downstream_gene_variant MELA-AU 3 101064618 101064618 single base substitution G A intron_variant MELA-AU 3 101064619 101064619 single base substitution G A downstream_gene_variant MELA-AU 3 101064619 101064619 single base substitution G A intron_variant MELA-AU 3 101064757 101064757 single base substitution T C downstream_gene_variant MELA-AU 3 101064757 101064757 single base substitution T C intron_variant MELA-AU 3 101064999 101064999 single base substitution A G downstream_gene_variant MELA-AU 3 101064999 101064999 single base substitution A G intron_variant MELA-AU 3 101065079 101065079 single base substitution G A downstream_gene_variant MELA-AU 3 101065079 101065079 single base substitution G A intron_variant MELA-AU 3 101065095 101065095 single base substitution G A downstream_gene_variant MELA-AU 3 101065095 101065095 single base substitution G A intron_variant MELA-AU 3 101065183 101065183 single base substitution G A downstream_gene_variant MELA-AU 3 101065183 101065183 single base substitution G A intron_variant MELA-AU 3 101065422 101065422 single base substitution A T downstream_gene_variant MELA-AU 3 101065422 101065422 single base substitution A T intron_variant MELA-AU 3 101065829 101065829 single base substitution G A downstream_gene_variant MELA-AU 3 101065829 101065829 single base substitution G A intron_variant MELA-AU 3 101065860 101065860 single base substitution G A downstream_gene_variant MELA-AU 3 101065860 101065860 single base substitution G A intron_variant MELA-AU 3 101065874 101065874 single base substitution G A downstream_gene_variant MELA-AU 3 101065874 101065874 single base substitution G A intron_variant MELA-AU 3 101066653 101066653 single base substitution A G intron_variant MELA-AU 3 101066822 101066822 single base substitution A T missense_variant D413E 1239T>A MELA-AU 3 101066822 101066822 single base substitution A T missense_variant D511E 1533T>A MELA-AU 3 101066822 101066822 single base substitution A T missense_variant D512E 1536T>A MELA-AU 3 101066822 101066822 single base substitution A T missense_variant D544E 1632T>A MELA-AU 3 101066822 101066822 single base substitution A T missense_variant D577E 1731T>A MELA-AU 3 101066822 101066822 single base substitution A T upstream_gene_variant MELA-AU 3 101067156 101067156 single base substitution C A intron_variant MELA-AU 3 101067156 101067156 single base substitution C A upstream_gene_variant MELA-AU 3 101067675 101067675 single base substitution G A intron_variant MELA-AU 3 101067675 101067675 single base substitution G A upstream_gene_variant MELA-AU 3 101068238 101068238 single base substitution G A intron_variant MELA-AU 3 101068238 101068238 single base substitution G A upstream_gene_variant MELA-AU 3 101068262 101068262 single base substitution G A intron_variant MELA-AU 3 101068262 101068262 single base substitution G A upstream_gene_variant MELA-AU 3 101069492 101069492 single base substitution T A intron_variant MELA-AU 3 101069492 101069492 single base substitution T A upstream_gene_variant MELA-AU 3 101070007 101070007 single base substitution A G intron_variant MELA-AU 3 101070007 101070007 single base substitution A G upstream_gene_variant MELA-AU 3 101070672 101070672 single base substitution A G intron_variant MELA-AU 3 101070672 101070672 single base substitution A G upstream_gene_variant MELA-AU 3 101071290 101071290 single base substitution C T intron_variant MELA-AU 3 101071290 101071290 single base substitution C T upstream_gene_variant MELA-AU 3 101071334 101071334 single base substitution G A intron_variant MELA-AU 3 101071334 101071334 single base substitution G A upstream_gene_variant MELA-AU 3 101071746 101071746 single base substitution G A intron_variant MELA-AU 3 101071746 101071746 single base substitution G A upstream_gene_variant MELA-AU 3 101071904 101071904 single base substitution G A intron_variant MELA-AU 3 101072411 101072411 single base substitution G A intron_variant MELA-AU 3 101072776 101072776 single base substitution C T intron_variant MELA-AU 3 101073774 101073774 single base substitution G A intron_variant MELA-AU 3 101073952 101073952 single base substitution G A intron_variant MELA-AU 3 101075221 101075221 single base substitution G A intron_variant MELA-AU 3 101075837 101075837 single base substitution T C intron_variant MELA-AU 3 101076137 101076137 single base substitution G A intron_variant MELA-AU 3 101076259 101076259 single base substitution G A intron_variant MELA-AU 3 101076267 101076267 single base substitution G A intron_variant MELA-AU 3 101077112 101077112 single base substitution G A intron_variant MELA-AU 3 101077287 101077287 single base substitution G A intron_variant MELA-AU 3 101077752 101077752 single base substitution T A intron_variant MELA-AU 3 101078105 101078105 single base substitution G A intron_variant MELA-AU 3 101078127 101078127 single base substitution A C intron_variant MELA-AU 3 101078565 101078566 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 3 101078609 101078609 single base substitution G A intron_variant MELA-AU 3 101080174 101080174 single base substitution G A intron_variant MELA-AU 3 101080472 101080472 single base substitution T A intron_variant MELA-AU 3 101080511 101080511 single base substitution C T intron_variant MELA-AU 3 101080806 101080806 single base substitution G A intron_variant MELA-AU 3 101080869 101080869 single base substitution G A intron_variant MELA-AU 3 101081119 101081120 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 101081450 101081450 single base substitution C T intron_variant MELA-AU 3 101082206 101082206 single base substitution G A intron_variant MELA-AU 3 101082476 101082476 single base substitution A G intron_variant MELA-AU 3 101082786 101082786 single base substitution G A intron_variant MELA-AU 3 101083143 101083143 single base substitution C A intron_variant MELA-AU 3 101083427 101083427 single base substitution G A intron_variant MELA-AU 3 101083858 101083858 single base substitution A G intron_variant MELA-AU 3 101084147 101084147 single base substitution G A intron_variant MELA-AU 3 101086213 101086213 single base substitution G A intron_variant MELA-AU 3 101086755 101086755 single base substitution G A synonymous_variant S135S 405C>T MELA-AU 3 101086755 101086755 single base substitution G A synonymous_variant S233S 699C>T MELA-AU 3 101086755 101086755 single base substitution G A synonymous_variant S234S 702C>T MELA-AU 3 101086755 101086755 single base substitution G A synonymous_variant S266S 798C>T MELA-AU 3 101086755 101086755 single base substitution G A synonymous_variant S299S 897C>T MELA-AU 3 101086900 101086900 single base substitution G A intron_variant MELA-AU 3 101087263 101087263 single base substitution C T intron_variant MELA-AU 3 101087591 101087591 single base substitution G A intron_variant MELA-AU 3 101088281 101088281 single base substitution G A intron_variant MELA-AU 3 101088291 101088291 single base substitution G A intron_variant MELA-AU 3 101088377 101088377 single base substitution A G intron_variant MELA-AU 3 101088408 101088408 single base substitution G A intron_variant MELA-AU 3 101088538 101088538 single base substitution G A intron_variant MELA-AU 3 101091269 101091269 single base substitution T A intron_variant MELA-AU 3 101091582 101091582 single base substitution G A intron_variant MELA-AU 3 101092078 101092078 single base substitution A T intron_variant MELA-AU 3 101092115 101092115 single base substitution T C intron_variant MELA-AU 3 101092168 101092168 single base substitution G A intron_variant MELA-AU 3 101093202 101093202 single base substitution G A intron_variant MELA-AU 3 101094206 101094206 single base substitution G A intron_variant MELA-AU 3 101094479 101094479 single base substitution G A intron_variant MELA-AU 3 101094942 101094942 single base substitution A G intron_variant MELA-AU 3 101096009 101096009 single base substitution G A intron_variant MELA-AU 3 101096104 101096104 single base substitution G A intron_variant MELA-AU 3 101096185 101096185 single base substitution C T intron_variant MELA-AU 3 101096395 101096395 single base substitution A T intron_variant MELA-AU 3 101096508 101096508 single base substitution A T intron_variant MELA-AU 3 101096545 101096545 single base substitution G A intron_variant MELA-AU 3 101097107 101097107 single base substitution G A intron_variant MELA-AU 3 101097292 101097292 single base substitution G A intron_variant MELA-AU 3 101097448 101097448 single base substitution A G intron_variant MELA-AU 3 101097474 101097474 single base substitution G A intron_variant MELA-AU 3 101097987 101097987 single base substitution C T intron_variant MELA-AU 3 101098691 101098691 single base substitution G A intron_variant MELA-AU 3 101099004 101099004 single base substitution G A intron_variant MELA-AU 3 101099399 101099399 single base substitution G A intron_variant MELA-AU 3 101099913 101099913 single base substitution C T intron_variant MELA-AU 3 101100045 101100045 single base substitution G A intron_variant MELA-AU 3 101100244 101100244 single base substitution G A intron_variant MELA-AU 3 101100420 101100420 single base substitution G A intron_variant MELA-AU 3 101100432 101100432 single base substitution A T intron_variant MELA-AU 3 101101009 101101009 single base substitution G A intron_variant MELA-AU 3 101101125 101101125 single base substitution A G intron_variant MELA-AU 3 101102328 101102328 single base substitution G A intron_variant MELA-AU 3 101102572 101102572 single base substitution G A intron_variant MELA-AU 3 101102642 101102642 single base substitution G A intron_variant MELA-AU 3 101102692 101102692 single base substitution G A intron_variant MELA-AU 3 101102693 101102693 single base substitution G A intron_variant MELA-AU 3 101104575 101104576 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 3 101105029 101105029 single base substitution G A intron_variant MELA-AU 3 101105048 101105048 single base substitution C T intron_variant MELA-AU 3 101105063 101105063 single base substitution G A intron_variant MELA-AU 3 101105064 101105064 single base substitution G A intron_variant MELA-AU 3 101105852 101105852 single base substitution C T intron_variant MELA-AU 3 101106357 101106357 single base substitution G A intron_variant MELA-AU 3 101106723 101106723 single base substitution G A intron_variant MELA-AU 3 101107969 101107969 single base substitution T C intron_variant MELA-AU 3 101108303 101108303 single base substitution C T intron_variant MELA-AU 3 101108887 101108887 single base substitution A G intron_variant MELA-AU 3 101109191 101109191 single base substitution A G intron_variant MELA-AU 3 101109810 101109810 single base substitution G A intron_variant MELA-AU 3 101109843 101109843 single base substitution G A intron_variant MELA-AU 3 101110291 101110291 single base substitution G A intron_variant MELA-AU 3 101110381 101110381 single base substitution G A intron_variant MELA-AU 3 101110391 101110391 single base substitution G A intron_variant MELA-AU 3 101111061 101111061 single base substitution G A intron_variant MELA-AU 3 101111251 101111251 single base substitution G A intron_variant MELA-AU 3 101111854 101111854 single base substitution G A intron_variant MELA-AU 3 101111941 101111941 single base substitution G A intron_variant MELA-AU 3 101112104 101112104 single base substitution A T intron_variant MELA-AU 3 101112184 101112184 single base substitution G A intron_variant MELA-AU 3 101112719 101112719 single base substitution G A intron_variant MELA-AU 3 101113380 101113380 single base substitution G A intron_variant MELA-AU 3 101114787 101114787 single base substitution G A intron_variant MELA-AU 3 101115050 101115050 single base substitution G A intron_variant MELA-AU 3 101115607 101115607 single base substitution G A intron_variant MELA-AU 3 101116448 101116448 single base substitution G A intron_variant MELA-AU 3 101116497 101116497 single base substitution G A intron_variant MELA-AU 3 101117027 101117027 single base substitution G A intron_variant MELA-AU 3 101117283 101117283 single base substitution G A intron_variant MELA-AU 3 101117287 101117287 single base substitution G A intron_variant MELA-AU 3 101118229 101118229 single base substitution A T intron_variant MELA-AU 3 101118556 101118556 single base substitution G A intron_variant MELA-AU 3 101118605 101118605 single base substitution G A intron_variant MELA-AU 3 101118715 101118715 single base substitution C T intron_variant MELA-AU 3 101120257 101120257 single base substitution C A intron_variant MELA-AU 3 101120274 101120274 single base substitution G A intron_variant MELA-AU 3 101120395 101120395 single base substitution G A intron_variant MELA-AU 3 101120672 101120672 single base substitution G A intron_variant MELA-AU 3 101121992 101121992 single base substitution G A intron_variant MELA-AU 3 101122225 101122225 single base substitution A G intron_variant MELA-AU 3 101122266 101122266 single base substitution G A intron_variant MELA-AU 3 101122514 101122514 single base substitution C T intron_variant MELA-AU 3 101122782 101122782 single base substitution G A intron_variant MELA-AU 3 101123160 101123160 single base substitution G A intron_variant MELA-AU 3 101123273 101123273 single base substitution T C intron_variant MELA-AU 3 101123877 101123877 single base substitution G A intron_variant MELA-AU 3 101124009 101124009 single base substitution G A intron_variant MELA-AU 3 101124163 101124163 single base substitution C T intron_variant MELA-AU 3 101124196 101124196 single base substitution C T intron_variant MELA-AU 3 101124198 101124198 single base substitution C A intron_variant MELA-AU 3 101124405 101124405 single base substitution G A intron_variant MELA-AU 3 101125252 101125252 single base substitution G A intron_variant MELA-AU 3 101125287 101125287 single base substitution G A intron_variant MELA-AU 3 101125290 101125291 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 101125295 101125295 single base substitution G A intron_variant MELA-AU 3 101125496 101125496 single base substitution G A intron_variant MELA-AU 3 101125738 101125738 single base substitution G A intron_variant MELA-AU 3 101125742 101125742 single base substitution G A intron_variant MELA-AU 3 101125889 101125889 single base substitution C T intron_variant MELA-AU 3 101126167 101126167 single base substitution A T intron_variant MELA-AU 3 101126185 101126185 single base substitution G A intron_variant MELA-AU 3 101126459 101126459 single base substitution G A intron_variant MELA-AU 3 101126842 101126842 single base substitution T C intron_variant MELA-AU 3 101126909 101126909 single base substitution C T intron_variant MELA-AU 3 101127461 101127461 single base substitution G A intron_variant MELA-AU 3 101128442 101128442 single base substitution G A intron_variant MELA-AU 3 101128781 101128781 single base substitution G A intron_variant MELA-AU 3 101129053 101129053 single base substitution G A intron_variant MELA-AU 3 101129200 101129200 single base substitution G A intron_variant MELA-AU 3 101129975 101129975 single base substitution G A intron_variant MELA-AU 3 101129975 101129976 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 101129976 101129976 single base substitution G A intron_variant MELA-AU 3 101130519 101130519 single base substitution G A intron_variant MELA-AU 3 101130574 101130574 single base substitution G A intron_variant MELA-AU 3 101130738 101130738 single base substitution A G intron_variant MELA-AU 3 101131022 101131022 single base substitution A T intron_variant MELA-AU 3 101131030 101131030 single base substitution A C intron_variant MELA-AU 3 101131231 101131231 single base substitution G A intron_variant MELA-AU 3 101131631 101131631 single base substitution G A intron_variant MELA-AU 3 101131933 101131933 single base substitution A G intron_variant MELA-AU 3 101131992 101131992 single base substitution G A intron_variant MELA-AU 3 101132268 101132268 single base substitution G A intron_variant MELA-AU 3 101132473 101132473 single base substitution G A intron_variant MELA-AU 3 101132579 101132579 single base substitution G A intron_variant MELA-AU 3 101132974 101132974 single base substitution T A intron_variant MELA-AU 3 101133011 101133012 multiple base substitution (>=2bp and <=200bp) GG CA intron_variant MELA-AU 3 101133047 101133047 single base substitution G A intron_variant MELA-AU 3 101133159 101133159 single base substitution C T intron_variant MELA-AU 3 101133276 101133276 single base substitution G A intron_variant MELA-AU 3 101133341 101133341 single base substitution T C intron_variant MELA-AU 3 101133574 101133574 single base substitution G A intron_variant MELA-AU 3 101133581 101133581 single base substitution A G intron_variant MELA-AU 3 101133937 101133937 single base substitution G A intron_variant MELA-AU 3 101133954 101133955 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 101134532 101134532 single base substitution G A intron_variant MELA-AU 3 101136318 101136318 single base substitution G A intron_variant MELA-AU 3 101137294 101137294 single base substitution C T intron_variant MELA-AU 3 101137787 101137787 single base substitution G A intron_variant MELA-AU 3 101137839 101137839 single base substitution T C intron_variant MELA-AU 3 101138062 101138062 single base substitution G A intron_variant MELA-AU 3 101138068 101138068 single base substitution A C intron_variant MELA-AU 3 101138280 101138280 single base substitution G A intron_variant MELA-AU 3 101138594 101138594 single base substitution T C intron_variant MELA-AU 3 101140245 101140245 single base substitution G A intron_variant MELA-AU 3 101140274 101140274 single base substitution A C intron_variant MELA-AU 3 101140733 101140733 single base substitution G A intron_variant MELA-AU 3 101140750 101140750 single base substitution A G intron_variant MELA-AU 3 101141732 101141732 single base substitution T A intron_variant MELA-AU 3 101141984 101141984 single base substitution A T intron_variant MELA-AU 3 101142895 101142895 single base substitution G A intron_variant MELA-AU 3 101143545 101143545 single base substitution G A intron_variant MELA-AU 3 101143823 101143823 single base substitution G A intron_variant MELA-AU 3 101144373 101144373 single base substitution G A intron_variant MELA-AU 3 101146159 101146160 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 101146223 101146227 deletion of <=200bp ACTCG - intron_variant MELA-AU 3 101146356 101146356 single base substitution T C intron_variant MELA-AU 3 101146866 101146866 single base substitution G A intron_variant MELA-AU 3 101147062 101147062 single base substitution G A intron_variant MELA-AU 3 101147563 101147563 single base substitution G A intron_variant MELA-AU 3 101147629 101147629 single base substitution G A intron_variant MELA-AU 3 101147728 101147728 single base substitution G A intron_variant MELA-AU 3 101148038 101148038 single base substitution G A intron_variant MELA-AU 3 101148096 101148096 single base substitution G A intron_variant MELA-AU 3 101148229 101148229 single base substitution G A intron_variant MELA-AU 3 101148482 101148482 single base substitution G A intron_variant MELA-AU 3 101148992 101148992 single base substitution C T intron_variant MELA-AU 3 101149404 101149404 single base substitution T C intron_variant MELA-AU 3 101149714 101149714 single base substitution G A intron_variant MELA-AU 3 101149798 101149799 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 101149799 101149799 single base substitution G A intron_variant MELA-AU 3 101149878 101149878 single base substitution G A intron_variant MELA-AU 3 101150071 101150071 single base substitution G A intron_variant MELA-AU 3 101150745 101150745 single base substitution C T intron_variant MELA-AU 3 101150976 101150976 single base substitution G A intron_variant MELA-AU 3 101151468 101151468 single base substitution G A intron_variant MELA-AU 3 101151539 101151539 single base substitution C T intron_variant MELA-AU 3 101151835 101151835 single base substitution T C intron_variant MELA-AU 3 101151864 101151864 single base substitution G A intron_variant MELA-AU 3 101152175 101152175 single base substitution G A intron_variant MELA-AU 3 101152186 101152186 single base substitution G A intron_variant MELA-AU 3 101152187 101152187 single base substitution G A intron_variant MELA-AU 3 101152945 101152945 single base substitution G A intron_variant MELA-AU 3 101153054 101153054 single base substitution A T intron_variant MELA-AU 3 101153260 101153260 single base substitution A T intron_variant MELA-AU 3 101153286 101153286 single base substitution G A intron_variant MELA-AU 3 101153292 101153292 single base substitution G A intron_variant MELA-AU 3 101153327 101153327 single base substitution A T intron_variant MELA-AU 3 101153645 101153645 single base substitution C T intron_variant MELA-AU 3 101154004 101154004 single base substitution G A intron_variant MELA-AU 3 101154359 101154359 single base substitution G A intron_variant MELA-AU 3 101155122 101155122 single base substitution G A intron_variant MELA-AU 3 101155134 101155134 single base substitution G A intron_variant MELA-AU 3 101155226 101155226 single base substitution A G intron_variant MELA-AU 3 101155993 101155993 single base substitution T G intron_variant MELA-AU 3 101156399 101156399 single base substitution A C intron_variant MELA-AU 3 101156483 101156483 single base substitution G A intron_variant MELA-AU 3 101156721 101156721 single base substitution G C intron_variant MELA-AU 3 101157071 101157071 single base substitution A G intron_variant MELA-AU 3 101157448 101157448 single base substitution T G intron_variant MELA-AU 3 101157455 101157455 single base substitution C T intron_variant MELA-AU 3 101159484 101159484 single base substitution G A intron_variant MELA-AU 3 101159584 101159584 single base substitution C T intron_variant MELA-AU 3 101159585 101159585 single base substitution C T intron_variant MELA-AU 3 101159591 101159591 single base substitution G A intron_variant MELA-AU 3 101160113 101160113 single base substitution G A intron_variant MELA-AU 3 101160877 101160877 single base substitution G A intron_variant MELA-AU 3 101161094 101161094 single base substitution G A intron_variant MELA-AU 3 101161155 101161156 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 3 101162381 101162381 single base substitution G A intron_variant MELA-AU 3 101162696 101162696 single base substitution G A intron_variant MELA-AU 3 101162790 101162790 single base substitution G A intron_variant MELA-AU 3 101164127 101164127 single base substitution A G intron_variant MELA-AU 3 101164678 101164678 single base substitution G A intron_variant MELA-AU 3 101164680 101164680 single base substitution A T intron_variant MELA-AU 3 101165492 101165492 single base substitution A G intron_variant MELA-AU 3 101165555 101165555 single base substitution C T intron_variant MELA-AU 3 101165851 101165851 single base substitution A G intron_variant MELA-AU 3 101166400 101166400 single base substitution G A intron_variant MELA-AU 3 101166721 101166721 single base substitution G A intron_variant MELA-AU 3 101167880 101167880 single base substitution G A intron_variant MELA-AU 3 101167991 101167991 single base substitution G A intron_variant MELA-AU 3 101168454 101168454 single base substitution A T intron_variant MELA-AU 3 101169428 101169428 single base substitution G A intron_variant MELA-AU 3 101169569 101169569 single base substitution G A intron_variant MELA-AU 3 101170188 101170188 single base substitution G A intron_variant MELA-AU 3 101170373 101170373 single base substitution C T intron_variant MELA-AU 3 101170408 101170408 single base substitution G A intron_variant MELA-AU 3 101171374 101171374 single base substitution G A intron_variant MELA-AU 3 101172883 101172883 single base substitution G A intron_variant MELA-AU 3 101173047 101173047 single base substitution G A intron_variant MELA-AU 3 101173092 101173092 single base substitution A T intron_variant MELA-AU 3 101173803 101173803 deletion of <=200bp A - intron_variant MELA-AU 3 101173875 101173875 single base substitution G A intron_variant MELA-AU 3 101173957 101173957 single base substitution G A intron_variant MELA-AU 3 101175594 101175594 single base substitution G T intron_variant MELA-AU 3 101175934 101175934 single base substitution G A intron_variant MELA-AU 3 101176256 101176256 single base substitution G A intron_variant MELA-AU 3 101176689 101176689 single base substitution G A intron_variant MELA-AU 3 101176876 101176876 single base substitution G A intron_variant MELA-AU 3 101177495 101177495 single base substitution G A intron_variant MELA-AU 3 101177619 101177619 single base substitution G A intron_variant MELA-AU 3 101177913 101177913 single base substitution G A intron_variant MELA-AU 3 101178624 101178624 single base substitution A T intron_variant MELA-AU 3 101178772 101178772 single base substitution C T intron_variant MELA-AU 3 101179613 101179613 single base substitution G A intron_variant MELA-AU 3 101179713 101179713 single base substitution G A intron_variant MELA-AU 3 101179749 101179749 single base substitution T A intron_variant MELA-AU 3 101180214 101180214 single base substitution G A intron_variant MELA-AU 3 101180312 101180312 single base substitution A T intron_variant MELA-AU 3 101180324 101180324 single base substitution G A intron_variant MELA-AU 3 101180330 101180330 single base substitution G A intron_variant MELA-AU 3 101180411 101180411 single base substitution G A intron_variant MELA-AU 3 101182208 101182208 single base substitution A T intron_variant MELA-AU 3 101182327 101182327 single base substitution G A intron_variant MELA-AU 3 101182416 101182416 single base substitution G A intron_variant MELA-AU 3 101182620 101182620 single base substitution G A intron_variant MELA-AU 3 101182803 101182803 single base substitution G A intron_variant MELA-AU 3 101182938 101182938 single base substitution G A intron_variant MELA-AU 3 101183438 101183438 single base substitution G A intron_variant MELA-AU 3 101183611 101183611 single base substitution G A intron_variant MELA-AU 3 101183876 101183877 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 101184607 101184607 single base substitution C T intron_variant MELA-AU 3 101184652 101184652 single base substitution G A intron_variant MELA-AU 3 101184661 101184661 single base substitution G A intron_variant MELA-AU 3 101184708 101184708 single base substitution G A intron_variant MELA-AU 3 101184783 101184783 single base substitution G A intron_variant MELA-AU 3 101184953 101184953 single base substitution G A intron_variant MELA-AU 3 101185649 101185649 single base substitution G A intron_variant MELA-AU 3 101185669 101185669 single base substitution G A intron_variant MELA-AU 3 101185748 101185748 single base substitution G A intron_variant MELA-AU 3 101185844 101185844 single base substitution G A intron_variant MELA-AU 3 101186263 101186263 single base substitution C T intron_variant MELA-AU 3 101186327 101186327 single base substitution A T intron_variant MELA-AU 3 101186620 101186620 single base substitution C T intron_variant MELA-AU 3 101186652 101186652 single base substitution G A intron_variant MELA-AU 3 101186945 101186945 single base substitution G A intron_variant MELA-AU 3 101187021 101187021 single base substitution A C intron_variant MELA-AU 3 101187468 101187468 single base substitution G A intron_variant MELA-AU 3 101187539 101187539 single base substitution G A intron_variant MELA-AU 3 101187763 101187763 single base substitution G A intron_variant MELA-AU 3 101187935 101187935 single base substitution A G intron_variant MELA-AU 3 101188076 101188076 single base substitution G A intron_variant MELA-AU 3 101189378 101189378 single base substitution A C intron_variant MELA-AU 3 101189401 101189401 single base substitution A T intron_variant MELA-AU 3 101189966 101189966 single base substitution G A intron_variant MELA-AU 3 101190305 101190305 single base substitution G A intron_variant MELA-AU 3 101190686 101190686 single base substitution G A intron_variant MELA-AU 3 101191009 101191009 single base substitution G A intron_variant MELA-AU 3 101191639 101191639 single base substitution A G intron_variant MELA-AU 3 101191870 101191870 single base substitution C T intron_variant MELA-AU 3 101192175 101192175 single base substitution A G intron_variant MELA-AU 3 101192327 101192327 single base substitution T A intron_variant MELA-AU 3 101192497 101192497 single base substitution G C intron_variant MELA-AU 3 101192682 101192682 single base substitution G A intron_variant MELA-AU 3 101193038 101193038 single base substitution G A intron_variant MELA-AU 3 101193070 101193070 single base substitution A G intron_variant MELA-AU 3 101193643 101193643 single base substitution G A intron_variant MELA-AU 3 101193698 101193698 single base substitution G A intron_variant MELA-AU 3 101193860 101193860 single base substitution G A intron_variant MELA-AU 3 101193897 101193897 single base substitution G A intron_variant MELA-AU 3 101194060 101194060 single base substitution G A intron_variant MELA-AU 3 101194225 101194225 single base substitution G A intron_variant MELA-AU 3 101194401 101194401 single base substitution G A intron_variant MELA-AU 3 101194721 101194721 single base substitution G A intron_variant MELA-AU 3 101194743 101194743 single base substitution G A intron_variant MELA-AU 3 101194867 101194867 single base substitution C A intron_variant MELA-AU 3 101195787 101195787 single base substitution G A intron_variant MELA-AU 3 101196654 101196654 single base substitution C T intron_variant MELA-AU 3 101197415 101197415 single base substitution G A intron_variant MELA-AU 3 101197515 101197515 single base substitution G A intron_variant MELA-AU 3 101197538 101197538 single base substitution G A intron_variant MELA-AU 3 101198125 101198125 single base substitution G A intron_variant MELA-AU 3 101198859 101198859 single base substitution G A intron_variant MELA-AU 3 101198954 101198954 single base substitution C T intron_variant MELA-AU 3 101199426 101199426 single base substitution C T intron_variant MELA-AU 3 101199734 101199734 single base substitution C T intron_variant MELA-AU 3 101199993 101199993 single base substitution G A intron_variant MELA-AU 3 101201535 101201535 single base substitution G A intron_variant MELA-AU 3 101201877 101201877 single base substitution G A intron_variant MELA-AU 3 101202171 101202171 single base substitution G A intron_variant MELA-AU 3 101203218 101203218 deletion of <=200bp G - intron_variant MELA-AU 3 101203425 101203425 single base substitution G A intron_variant MELA-AU 3 101203743 101203743 single base substitution G A intron_variant MELA-AU 3 101204303 101204303 single base substitution G A intron_variant MELA-AU 3 101204818 101204818 single base substitution G A intron_variant MELA-AU 3 101205666 101205666 single base substitution G A intron_variant MELA-AU 3 101205679 101205679 single base substitution G A intron_variant MELA-AU 3 101206075 101206075 single base substitution G A intron_variant MELA-AU 3 101206865 101206865 single base substitution T C intron_variant MELA-AU 3 101206971 101206971 single base substitution G A intron_variant MELA-AU 3 101207425 101207426 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 3 101207594 101207594 single base substitution G A intron_variant MELA-AU 3 101208007 101208007 single base substitution G A intron_variant MELA-AU 3 101208958 101208959 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 101209623 101209623 single base substitution G T intron_variant MELA-AU 3 101210170 101210170 single base substitution T A intron_variant MELA-AU 3 101210527 101210527 single base substitution A C intron_variant MELA-AU 3 101210598 101210598 single base substitution G A intron_variant MELA-AU 3 101210755 101210755 single base substitution G A intron_variant MELA-AU 3 101210818 101210819 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 101211146 101211146 single base substitution G A intron_variant MELA-AU 3 101211250 101211250 single base substitution A T intron_variant MELA-AU 3 101211737 101211737 single base substitution G A intron_variant MELA-AU 3 101212087 101212087 single base substitution T C intron_variant MELA-AU 3 101212097 101212097 single base substitution G A intron_variant MELA-AU 3 101212103 101212103 single base substitution G A intron_variant MELA-AU 3 101212724 101212725 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P27F 79CC>TT MELA-AU 3 101212724 101212725 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P60F 178CC>TT MELA-AU 3 101213538 101213538 single base substitution G A intron_variant MELA-AU 3 101213692 101213692 single base substitution G A intron_variant MELA-AU 3 101213782 101213782 single base substitution G C intron_variant MELA-AU 3 101214117 101214117 single base substitution G C intron_variant MELA-AU 3 101214147 101214147 single base substitution G A intron_variant MELA-AU 3 101214544 101214544 single base substitution G T intron_variant MELA-AU 3 101215793 101215793 single base substitution G A intron_variant MELA-AU 3 101216104 101216104 single base substitution G A intron_variant MELA-AU 3 101216628 101216628 single base substitution G A intron_variant MELA-AU 3 101216648 101216648 single base substitution A G intron_variant MELA-AU 3 101216792 101216792 single base substitution A C intron_variant MELA-AU 3 101217647 101217647 single base substitution G A intron_variant MELA-AU 3 101217893 101217893 single base substitution G A intron_variant MELA-AU 3 101218142 101218142 deletion of <=200bp A - intron_variant MELA-AU 3 101218230 101218230 single base substitution G A intron_variant MELA-AU 3 101218552 101218552 single base substitution G A intron_variant MELA-AU 3 101219814 101219814 single base substitution T C intron_variant MELA-AU 3 101220225 101220225 single base substitution G A intron_variant MELA-AU 3 101220232 101220232 single base substitution G A intron_variant MELA-AU 3 101220780 101220780 single base substitution G A intron_variant MELA-AU 3 101221117 101221117 single base substitution G A intron_variant MELA-AU 3 101221182 101221182 single base substitution C T intron_variant MELA-AU 3 101221652 101221652 single base substitution C T intron_variant MELA-AU 3 101221840 101221840 single base substitution A T intron_variant MELA-AU 3 101221920 101221920 single base substitution T C intron_variant MELA-AU 3 101222337 101222337 single base substitution G A intron_variant MELA-AU 3 101222364 101222364 single base substitution G T intron_variant MELA-AU 3 101223285 101223285 single base substitution G A intron_variant MELA-AU 3 101224202 101224202 single base substitution C A intron_variant MELA-AU 3 101224221 101224221 single base substitution T C intron_variant MELA-AU 3 101224804 101224804 single base substitution T C intron_variant MELA-AU 3 101224999 101224999 single base substitution G A intron_variant MELA-AU 3 101225146 101225146 single base substitution G A intron_variant MELA-AU 3 101225232 101225232 single base substitution C T intron_variant MELA-AU 3 101226059 101226059 single base substitution G A intron_variant MELA-AU 3 101226299 101226299 single base substitution A T intron_variant MELA-AU 3 101226426 101226426 single base substitution A C intron_variant MELA-AU 3 101226828 101226828 single base substitution G A intron_variant MELA-AU 3 101226879 101226879 single base substitution G A intron_variant MELA-AU 3 101227081 101227081 single base substitution G A intron_variant MELA-AU 3 101227107 101227107 single base substitution A G intron_variant MELA-AU 3 101227419 101227419 single base substitution G A intron_variant MELA-AU 3 101227488 101227488 single base substitution T C intron_variant MELA-AU 3 101227490 101227490 single base substitution T C intron_variant MELA-AU 3 101228273 101228274 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 101230051 101230051 single base substitution G A intron_variant MELA-AU 3 101230285 101230286 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 101230660 101230660 single base substitution T G intron_variant MELA-AU 3 101231827 101231828 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 101231964 101231964 single base substitution C T 5_prime_UTR_variant MELA-AU 3 101231964 101231964 single base substitution C T missense_variant R4K 11G>A MELA-AU 3 101232041 101232041 single base substitution G A 5_prime_UTR_variant MELA-AU 3 101232041 101232041 single base substitution G A upstream_gene_variant MELA-AU 3 101232049 101232050 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 3 101232049 101232050 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 101232050 101232050 single base substitution G A 5_prime_UTR_variant MELA-AU 3 101232050 101232050 single base substitution G A upstream_gene_variant MELA-AU 3 101232156 101232157 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 101232719 101232719 single base substitution G A upstream_gene_variant MELA-AU 3 101232836 101232836 single base substitution G A upstream_gene_variant MELA-AU 3 101233053 101233053 single base substitution C T upstream_gene_variant MELA-AU 3 101233317 101233317 single base substitution A T upstream_gene_variant MELA-AU 3 101233647 101233647 single base substitution G A upstream_gene_variant MELA-AU 3 101233754 101233754 single base substitution C T upstream_gene_variant MELA-AU 3 101234907 101234907 single base substitution T C upstream_gene_variant MELA-AU 3 101234997 101234997 single base substitution C T upstream_gene_variant MELA-AU 3 101235107 101235107 single base substitution G A upstream_gene_variant MELA-AU 3 101235517 101235517 single base substitution T G upstream_gene_variant MELA-AU 3 101235662 101235662 single base substitution G A upstream_gene_variant MELA-AU 3 101235663 101235663 single base substitution A G upstream_gene_variant MELA-AU 3 101235787 101235787 single base substitution C T upstream_gene_variant MELA-AU 3 101235874 101235874 single base substitution C T upstream_gene_variant MELA-AU 3 101236094 101236094 single base substitution C T upstream_gene_variant MELA-AU 3 101236297 101236297 single base substitution G A upstream_gene_variant MELA-AU 3 101236383 101236383 single base substitution T A upstream_gene_variant MELA-AU 3 101236495 101236495 single base substitution G A upstream_gene_variant MELA-AU 3 101236518 101236518 single base substitution A T upstream_gene_variant MELA-AU 3 101236770 101236770 single base substitution G A upstream_gene_variant ORCA-IN 3 101040749 101040749 single base substitution G C downstream_gene_variant ORCA-IN 3 101042757 101042757 single base substitution C T downstream_gene_variant ORCA-IN 3 101047622 101047622 single base substitution G A intron_variant ORCA-IN 3 101059983 101059983 single base substitution G C intron_variant ORCA-IN 3 101059983 101059983 single base substitution G C upstream_gene_variant ORCA-IN 3 101113360 101113361 deletion of <=200bp AT - intron_variant ORCA-IN 3 101117519 101117519 single base substitution G C intron_variant ORCA-IN 3 101161861 101161861 single base substitution C G intron_variant ORCA-IN 3 101167048 101167048 single base substitution G C intron_variant ORCA-IN 3 101183942 101183942 single base substitution C A intron_variant ORCA-IN 3 101208168 101208168 single base substitution G C intron_variant OV-AU 3 101044081 101044081 single base substitution C G 3_prime_UTR_variant OV-AU 3 101044081 101044081 single base substitution C G downstream_gene_variant OV-AU 3 101044222 101044222 single base substitution C G 3_prime_UTR_variant OV-AU 3 101044222 101044222 single base substitution C G downstream_gene_variant OV-AU 3 101048760 101048760 single base substitution T C intron_variant OV-AU 3 101053387 101053387 single base substitution T C downstream_gene_variant OV-AU 3 101053387 101053387 single base substitution T C intron_variant OV-AU 3 101053387 101053387 single base substitution T C upstream_gene_variant OV-AU 3 101060906 101060906 single base substitution G T intron_variant OV-AU 3 101060906 101060906 single base substitution G T upstream_gene_variant OV-AU 3 101064706 101064706 single base substitution A C downstream_gene_variant OV-AU 3 101064706 101064706 single base substitution A C intron_variant OV-AU 3 101066356 101066356 single base substitution G A 3_prime_UTR_variant OV-AU 3 101066356 101066356 single base substitution G A intron_variant OV-AU 3 101067440 101067440 single base substitution C A intron_variant OV-AU 3 101067440 101067440 single base substitution C A upstream_gene_variant OV-AU 3 101075480 101075480 single base substitution C A intron_variant OV-AU 3 101075513 101075513 single base substitution G T intron_variant OV-AU 3 101083367 101083367 single base substitution A T intron_variant OV-AU 3 101098570 101098570 single base substitution G A intron_variant OV-AU 3 101100663 101100663 single base substitution T C intron_variant OV-AU 3 101109509 101109509 single base substitution C A intron_variant OV-AU 3 101110403 101110403 single base substitution A G intron_variant OV-AU 3 101111726 101111726 single base substitution G T intron_variant OV-AU 3 101111772 101111772 single base substitution G C intron_variant OV-AU 3 101116123 101116123 single base substitution G A intron_variant OV-AU 3 101121525 101121525 single base substitution C A intron_variant OV-AU 3 101121648 101121648 single base substitution T G intron_variant OV-AU 3 101128113 101128113 single base substitution A G intron_variant OV-AU 3 101129641 101129641 single base substitution A T intron_variant OV-AU 3 101130939 101130939 single base substitution C G intron_variant OV-AU 3 101131180 101131180 single base substitution G C intron_variant OV-AU 3 101132576 101132576 single base substitution A G intron_variant OV-AU 3 101134185 101134185 single base substitution C G intron_variant OV-AU 3 101139203 101139203 single base substitution C A intron_variant OV-AU 3 101140735 101140735 single base substitution A G intron_variant OV-AU 3 101149692 101149692 single base substitution T A intron_variant OV-AU 3 101166687 101166687 single base substitution A T intron_variant OV-AU 3 101167444 101167444 single base substitution G T intron_variant OV-AU 3 101167722 101167722 single base substitution A G intron_variant OV-AU 3 101169906 101169906 single base substitution C T intron_variant OV-AU 3 101170324 101170324 single base substitution A T intron_variant OV-AU 3 101172722 101172722 single base substitution A T intron_variant OV-AU 3 101176743 101176743 single base substitution G C intron_variant OV-AU 3 101178955 101178955 single base substitution G T intron_variant OV-AU 3 101185896 101185896 single base substitution G A intron_variant OV-AU 3 101187681 101187681 single base substitution G T intron_variant OV-AU 3 101189326 101189326 single base substitution G T intron_variant OV-AU 3 101189494 101189494 single base substitution G C intron_variant OV-AU 3 101203481 101203481 single base substitution C T intron_variant OV-AU 3 101209641 101209641 single base substitution C G intron_variant OV-AU 3 101220638 101220638 single base substitution G A intron_variant OV-AU 3 101220973 101220973 single base substitution T C intron_variant OV-AU 3 101232129 101232129 single base substitution C A upstream_gene_variant OV-AU 3 101232345 101232345 single base substitution C T upstream_gene_variant OV-AU 3 101234754 101234754 single base substitution A T upstream_gene_variant OV-US 3 101080585 101080585 single base substitution T A stop_gained K369* 1105A>T OV-US 3 101080585 101080585 single base substitution T A stop_gained K467* 1399A>T OV-US 3 101080585 101080585 single base substitution T A stop_gained K468* 1402A>T OV-US 3 101080585 101080585 single base substitution T A stop_gained K500* 1498A>T OV-US 3 101080585 101080585 single base substitution T A stop_gained K533* 1597A>T PACA-AU 3 101039763 101039763 single base substitution C T downstream_gene_variant PACA-AU 3 101041177 101041177 single base substitution T A downstream_gene_variant PACA-AU 3 101047001 101047001 single base substitution T G intron_variant PACA-AU 3 101048339 101048339 single base substitution A C intron_variant PACA-AU 3 101051617 101051617 single base substitution T C downstream_gene_variant PACA-AU 3 101051617 101051617 single base substitution T C missense_variant E45G 134A>G PACA-AU 3 101051617 101051617 single base substitution T C missense_variant E693G 2078A>G PACA-AU 3 101051617 101051617 single base substitution T C missense_variant E791G 2372A>G PACA-AU 3 101051617 101051617 single base substitution T C missense_variant E792G 2375A>G PACA-AU 3 101051617 101051617 single base substitution T C missense_variant E824G 2471A>G PACA-AU 3 101051617 101051617 single base substitution T C missense_variant E857G 2570A>G PACA-AU 3 101054796 101054796 single base substitution G A downstream_gene_variant PACA-AU 3 101054796 101054796 single base substitution G A intron_variant PACA-AU 3 101054796 101054796 single base substitution G A upstream_gene_variant PACA-AU 3 101058962 101058962 single base substitution A G exon_variant PACA-AU 3 101058962 101058962 single base substitution A G synonymous_variant D614D 1842T>C PACA-AU 3 101058962 101058962 single base substitution A G synonymous_variant D712D 2136T>C PACA-AU 3 101058962 101058962 single base substitution A G synonymous_variant D713D 2139T>C PACA-AU 3 101058962 101058962 single base substitution A G synonymous_variant D745D 2235T>C PACA-AU 3 101058962 101058962 single base substitution A G synonymous_variant D778D 2334T>C PACA-AU 3 101065531 101065531 single base substitution A T downstream_gene_variant PACA-AU 3 101065531 101065531 single base substitution A T intron_variant PACA-AU 3 101068929 101068929 single base substitution C G intron_variant PACA-AU 3 101068929 101068929 single base substitution C G upstream_gene_variant PACA-AU 3 101071655 101071655 single base substitution T G intron_variant PACA-AU 3 101071655 101071655 single base substitution T G upstream_gene_variant PACA-AU 3 101073094 101073094 single base substitution C T intron_variant PACA-AU 3 101087918 101087918 single base substitution G A intron_variant PACA-AU 3 101098135 101098135 single base substitution G A intron_variant PACA-AU 3 101101181 101101181 single base substitution T C intron_variant PACA-AU 3 101108834 101108834 single base substitution C T intron_variant PACA-AU 3 101116174 101116174 single base substitution A C intron_variant PACA-AU 3 101117277 101117277 single base substitution C T intron_variant PACA-AU 3 101117636 101117636 single base substitution G A intron_variant PACA-AU 3 101119869 101119869 single base substitution G T intron_variant PACA-AU 3 101120174 101120174 single base substitution A G intron_variant PACA-AU 3 101129632 101129632 single base substitution T C intron_variant PACA-AU 3 101133210 101133210 single base substitution G A intron_variant PACA-AU 3 101136279 101136279 single base substitution A C intron_variant PACA-AU 3 101145774 101145774 single base substitution G C intron_variant PACA-AU 3 101147594 101147594 single base substitution G C intron_variant PACA-AU 3 101153735 101153735 single base substitution G A intron_variant PACA-AU 3 101155503 101155503 single base substitution A C intron_variant PACA-AU 3 101156601 101156601 single base substitution A C intron_variant PACA-AU 3 101167155 101167155 insertion of <=200bp - A intron_variant PACA-AU 3 101167619 101167619 deletion of <=200bp A - intron_variant PACA-AU 3 101169782 101169782 single base substitution G C intron_variant PACA-AU 3 101176775 101176775 single base substitution G A intron_variant PACA-AU 3 101178849 101178851 deletion of <=200bp GAA - intron_variant PACA-AU 3 101179785 101179785 single base substitution A C intron_variant PACA-AU 3 101180121 101180121 single base substitution T A intron_variant PACA-AU 3 101181464 101181464 single base substitution C T intron_variant PACA-AU 3 101182148 101182148 single base substitution G A intron_variant PACA-AU 3 101182299 101182299 single base substitution G C intron_variant PACA-AU 3 101202824 101202824 single base substitution T A intron_variant PACA-AU 3 101205025 101205025 single base substitution C T intron_variant PACA-AU 3 101206002 101206002 single base substitution C T intron_variant PACA-AU 3 101208355 101208355 single base substitution C T intron_variant PACA-AU 3 101209024 101209024 single base substitution C T intron_variant PACA-AU 3 101212285 101212285 single base substitution T A intron_variant PACA-AU 3 101212429 101212429 single base substitution A G intron_variant PACA-AU 3 101216187 101216187 single base substitution C T intron_variant PACA-AU 3 101223424 101223424 single base substitution G C intron_variant PACA-AU 3 101223509 101223509 single base substitution C T intron_variant PACA-AU 3 101228590 101228590 single base substitution A G intron_variant PACA-AU 3 101229424 101229424 single base substitution C T intron_variant PACA-AU 3 101233560 101233562 deletion of <=200bp TGC - upstream_gene_variant PACA-CA 3 101038085 101038085 single base substitution T A downstream_gene_variant PACA-CA 3 101041731 101041731 single base substitution G C downstream_gene_variant PACA-CA 3 101043574 101043574 single base substitution T C 3_prime_UTR_variant PACA-CA 3 101043574 101043574 single base substitution T C downstream_gene_variant PACA-CA 3 101044082 101044106 deletion of <=200bp AAATTTTACCCTGAACAAATGAACT - 3_prime_UTR_variant PACA-CA 3 101044082 101044106 deletion of <=200bp AAATTTTACCCTGAACAAATGAACT - downstream_gene_variant PACA-CA 3 101044311 101044311 single base substitution T A 3_prime_UTR_variant PACA-CA 3 101044311 101044311 single base substitution T A downstream_gene_variant PACA-CA 3 101050369 101050369 deletion of <=200bp A - intron_variant PACA-CA 3 101057070 101057070 single base substitution C A intron_variant PACA-CA 3 101057070 101057070 single base substitution C A upstream_gene_variant PACA-CA 3 101058915 101058915 single base substitution A T intron_variant PACA-CA 3 101058920 101058920 single base substitution C G intron_variant PACA-CA 3 101059650 101059650 single base substitution T C intron_variant PACA-CA 3 101059650 101059650 single base substitution T C upstream_gene_variant PACA-CA 3 101063201 101063201 single base substitution G T downstream_gene_variant PACA-CA 3 101063201 101063201 single base substitution G T intron_variant PACA-CA 3 101063201 101063201 single base substitution G T upstream_gene_variant PACA-CA 3 101063210 101063226 deletion of <=200bp AGACATTCTCTTCCCAC - downstream_gene_variant PACA-CA 3 101063210 101063226 deletion of <=200bp AGACATTCTCTTCCCAC - intron_variant PACA-CA 3 101063210 101063226 deletion of <=200bp AGACATTCTCTTCCCAC - upstream_gene_variant PACA-CA 3 101066341 101066341 single base substitution C T 3_prime_UTR_variant PACA-CA 3 101066341 101066341 single base substitution C T intron_variant PACA-CA 3 101070153 101070153 single base substitution T A intron_variant PACA-CA 3 101070153 101070153 single base substitution T A upstream_gene_variant PACA-CA 3 101073652 101073652 single base substitution C T intron_variant PACA-CA 3 101075433 101075433 single base substitution T C intron_variant PACA-CA 3 101076841 101076845 deletion of <=200bp TGGAG - intron_variant PACA-CA 3 101076892 101076892 single base substitution C A intron_variant PACA-CA 3 101080918 101080918 single base substitution C G intron_variant PACA-CA 3 101082356 101082356 single base substitution T C intron_variant PACA-CA 3 101087191 101087191 single base substitution G A intron_variant PACA-CA 3 101092663 101092663 single base substitution A G intron_variant PACA-CA 3 101094084 101094084 single base substitution C T intron_variant PACA-CA 3 101096199 101096199 single base substitution G A intron_variant PACA-CA 3 101099499 101099499 single base substitution C A intron_variant PACA-CA 3 101100866 101100866 single base substitution G C intron_variant PACA-CA 3 101102916 101102916 single base substitution G A intron_variant PACA-CA 3 101104479 101104479 single base substitution G T intron_variant PACA-CA 3 101108111 101108111 single base substitution C T intron_variant PACA-CA 3 101112142 101112142 single base substitution C T intron_variant PACA-CA 3 101113738 101113738 single base substitution T A intron_variant PACA-CA 3 101116617 101116617 deletion of <=200bp A - intron_variant PACA-CA 3 101118800 101118800 single base substitution A C intron_variant PACA-CA 3 101119529 101119529 single base substitution G A intron_variant PACA-CA 3 101124738 101124738 single base substitution A C intron_variant PACA-CA 3 101127148 101127148 insertion of <=200bp - A intron_variant PACA-CA 3 101132675 101132675 single base substitution A G intron_variant PACA-CA 3 101133609 101133609 single base substitution C A intron_variant PACA-CA 3 101133610 101133610 single base substitution A G intron_variant PACA-CA 3 101140906 101140906 single base substitution G A intron_variant PACA-CA 3 101141732 101141732 single base substitution T A intron_variant PACA-CA 3 101141907 101141907 single base substitution C T intron_variant PACA-CA 3 101145641 101145641 single base substitution C G intron_variant PACA-CA 3 101146354 101146354 single base substitution T A intron_variant PACA-CA 3 101149910 101149910 single base substitution C T intron_variant PACA-CA 3 101151638 101151638 deletion of <=200bp A - intron_variant PACA-CA 3 101152436 101152436 deletion of <=200bp G - intron_variant PACA-CA 3 101155441 101155441 insertion of <=200bp - A intron_variant PACA-CA 3 101166868 101166868 single base substitution G A intron_variant PACA-CA 3 101170836 101170836 single base substitution G C intron_variant PACA-CA 3 101172070 101172070 single base substitution G A intron_variant PACA-CA 3 101176664 101176664 single base substitution C T intron_variant PACA-CA 3 101179528 101179528 single base substitution G T intron_variant PACA-CA 3 101181762 101181762 single base substitution C T intron_variant PACA-CA 3 101184131 101184131 single base substitution C T intron_variant PACA-CA 3 101185556 101185556 single base substitution G A intron_variant PACA-CA 3 101185902 101185902 single base substitution C T intron_variant PACA-CA 3 101186944 101186944 single base substitution G C intron_variant PACA-CA 3 101187537 101187537 single base substitution G T intron_variant PACA-CA 3 101188208 101188208 single base substitution G C intron_variant PACA-CA 3 101190840 101190840 single base substitution C T intron_variant PACA-CA 3 101191316 101191316 single base substitution C T intron_variant PACA-CA 3 101192025 101192025 single base substitution G A intron_variant PACA-CA 3 101195571 101195571 single base substitution A C intron_variant PACA-CA 3 101196045 101196045 single base substitution T C intron_variant PACA-CA 3 101196801 101196801 deletion of <=200bp T - intron_variant PACA-CA 3 101198889 101198889 single base substitution A C intron_variant PACA-CA 3 101199561 101199561 single base substitution T C intron_variant PACA-CA 3 101202075 101202075 single base substitution G A intron_variant PACA-CA 3 101204755 101204755 insertion of <=200bp - A intron_variant PACA-CA 3 101205307 101205307 single base substitution A G intron_variant PACA-CA 3 101205710 101205710 single base substitution A G intron_variant PACA-CA 3 101208020 101208020 single base substitution G C intron_variant PACA-CA 3 101210265 101210265 single base substitution A C intron_variant PACA-CA 3 101218212 101218212 deletion of <=200bp T - intron_variant PACA-CA 3 101218936 101218936 single base substitution A C intron_variant PACA-CA 3 101222848 101222848 single base substitution A T intron_variant PACA-CA 3 101223045 101223045 single base substitution A G intron_variant PACA-CA 3 101225085 101225085 single base substitution A G intron_variant PACA-CA 3 101227223 101227223 single base substitution G A intron_variant PACA-CA 3 101231399 101231399 single base substitution G A intron_variant PAEN-AU 3 101051651 101051651 single base substitution A C downstream_gene_variant PAEN-AU 3 101051651 101051651 single base substitution A C missense_variant F34V 100T>G PAEN-AU 3 101051651 101051651 single base substitution A C missense_variant F682V 2044T>G PAEN-AU 3 101051651 101051651 single base substitution A C missense_variant F780V 2338T>G PAEN-AU 3 101051651 101051651 single base substitution A C missense_variant F781V 2341T>G PAEN-AU 3 101051651 101051651 single base substitution A C missense_variant F813V 2437T>G PAEN-AU 3 101051651 101051651 single base substitution A C missense_variant F846V 2536T>G PAEN-AU 3 101070081 101070081 single base substitution T C intron_variant PAEN-AU 3 101070081 101070081 single base substitution T C upstream_gene_variant PAEN-AU 3 101076776 101076777 deletion of <=200bp TG - intron_variant PAEN-AU 3 101076809 101076809 single base substitution T G intron_variant PAEN-AU 3 101120372 101120372 single base substitution C A intron_variant PAEN-AU 3 101134259 101134259 single base substitution T C intron_variant PAEN-AU 3 101162303 101162307 deletion of <=200bp TAAAG - intron_variant PAEN-AU 3 101186944 101186944 single base substitution G A intron_variant PAEN-AU 3 101196651 101196651 single base substitution C T intron_variant PAEN-AU 3 101229867 101229869 deletion of <=200bp AAA - intron_variant PAEN-AU 3 101231023 101231027 deletion of <=200bp AAATG - intron_variant PAEN-IT 3 101096673 101096673 single base substitution C A intron_variant PAEN-IT 3 101149143 101149143 single base substitution T A intron_variant PAEN-IT 3 101172116 101172116 single base substitution T A intron_variant PAEN-IT 3 101179303 101179303 single base substitution C T intron_variant PBCA-DE 3 101038368 101038368 single base substitution A C downstream_gene_variant PBCA-DE 3 101042639 101042639 insertion of <=200bp - T downstream_gene_variant PBCA-DE 3 101045777 101045777 single base substitution C T intron_variant PBCA-DE 3 101047450 101047450 deletion of <=200bp T - intron_variant PBCA-DE 3 101050408 101050408 insertion of <=200bp - AATAATAAT intron_variant PBCA-DE 3 101052213 101052213 single base substitution C T downstream_gene_variant PBCA-DE 3 101052213 101052213 single base substitution C T intron_variant PBCA-DE 3 101052213 101052213 single base substitution C T upstream_gene_variant PBCA-DE 3 101057114 101057114 single base substitution C A intron_variant PBCA-DE 3 101066729 101066729 single base substitution T C synonymous_variant V444V 1332A>G PBCA-DE 3 101066729 101066729 single base substitution T C synonymous_variant V542V 1626A>G PBCA-DE 3 101066729 101066729 single base substitution T C synonymous_variant V543V 1629A>G PBCA-DE 3 101066729 101066729 single base substitution T C synonymous_variant V575V 1725A>G PBCA-DE 3 101066729 101066729 single base substitution T C synonymous_variant V608V 1824A>G PBCA-DE 3 101066729 101066729 single base substitution T C synonymous_variant V9V 27A>G PBCA-DE 3 101069513 101069513 single base substitution A G intron_variant PBCA-DE 3 101069513 101069513 single base substitution A G upstream_gene_variant PBCA-DE 3 101072522 101072522 single base substitution G A intron_variant PBCA-DE 3 101080064 101080064 insertion of <=200bp - A intron_variant PBCA-DE 3 101088667 101088667 single base substitution T G intron_variant PBCA-DE 3 101090274 101090274 single base substitution A G intron_variant PBCA-DE 3 101093943 101093943 single base substitution T A intron_variant PBCA-DE 3 101095952 101095952 single base substitution G A intron_variant PBCA-DE 3 101096008 101096008 single base substitution C T intron_variant PBCA-DE 3 101125507 101125507 single base substitution G T intron_variant PBCA-DE 3 101129059 101129059 single base substitution C A intron_variant PBCA-DE 3 101133344 101133344 single base substitution C A intron_variant PBCA-DE 3 101133693 101133693 insertion of <=200bp - A intron_variant PBCA-DE 3 101134069 101134069 single base substitution T C intron_variant PBCA-DE 3 101134178 101134179 deletion of <=200bp GC - intron_variant PBCA-DE 3 101137502 101137502 single base substitution A G intron_variant PBCA-DE 3 101166694 101166694 single base substitution A C intron_variant PBCA-DE 3 101167423 101167423 insertion of <=200bp - G intron_variant PBCA-DE 3 101172707 101172719 deletion of <=200bp TAATTTAAAAAAT - intron_variant PBCA-DE 3 101175786 101175800 deletion of <=200bp TTTTGTTTTGTTTTG - intron_variant PBCA-DE 3 101178458 101178458 insertion of <=200bp - A intron_variant PBCA-DE 3 101184980 101184980 single base substitution G T intron_variant PBCA-DE 3 101190365 101190365 single base substitution C A intron_variant PBCA-DE 3 101193672 101193674 deletion of <=200bp TTC - intron_variant PBCA-DE 3 101194796 101194796 insertion of <=200bp - A intron_variant PBCA-DE 3 101196785 101196785 single base substitution A G intron_variant PBCA-DE 3 101198043 101198043 single base substitution G A intron_variant PBCA-DE 3 101201105 101201105 single base substitution C G intron_variant PBCA-DE 3 101211301 101211301 single base substitution T C intron_variant PBCA-DE 3 101219493 101219493 single base substitution C T intron_variant PBCA-DE 3 101230663 101230663 single base substitution T G intron_variant PBCA-DE 3 101236512 101236512 single base substitution G A upstream_gene_variant PRAD-CA 3 101041053 101041053 single base substitution T C downstream_gene_variant PRAD-CA 3 101073447 101073447 single base substitution T C intron_variant PRAD-CA 3 101102441 101102441 single base substitution A G intron_variant PRAD-CA 3 101108184 101108184 single base substitution C T intron_variant PRAD-CA 3 101153698 101153698 single base substitution A T intron_variant PRAD-CA 3 101154248 101154248 single base substitution T C intron_variant PRAD-CA 3 101164810 101164810 single base substitution T G intron_variant PRAD-CA 3 101178637 101178637 single base substitution C A intron_variant PRAD-CA 3 101182222 101182222 single base substitution T C intron_variant PRAD-CA 3 101182242 101182242 single base substitution C T intron_variant PRAD-CA 3 101195964 101195964 single base substitution A T intron_variant PRAD-CA 3 101208706 101208706 single base substitution G A intron_variant PRAD-CA 3 101209699 101209699 single base substitution C A intron_variant PRAD-CA 3 101210190 101210190 single base substitution A C intron_variant PRAD-CA 3 101210891 101210891 single base substitution G A intron_variant PRAD-CA 3 101223783 101223783 single base substitution A G intron_variant PRAD-CA 3 101224671 101224671 single base substitution T C intron_variant PRAD-CA 3 101227690 101227690 single base substitution A G intron_variant PRAD-UK 3 101049001 101049003 deletion of <=200bp AAG - intron_variant PRAD-UK 3 101049003 101049003 single base substitution G T intron_variant PRAD-UK 3 101067148 101067148 single base substitution T C intron_variant PRAD-UK 3 101067148 101067148 single base substitution T C upstream_gene_variant PRAD-UK 3 101072526 101072526 single base substitution T C intron_variant PRAD-UK 3 101080609 101080609 single base substitution T C missense_variant T361A 1081A>G PRAD-UK 3 101080609 101080609 single base substitution T C missense_variant T459A 1375A>G PRAD-UK 3 101080609 101080609 single base substitution T C missense_variant T460A 1378A>G PRAD-UK 3 101080609 101080609 single base substitution T C missense_variant T492A 1474A>G PRAD-UK 3 101080609 101080609 single base substitution T C missense_variant T525A 1573A>G PRAD-UK 3 101088030 101088030 single base substitution G A intron_variant PRAD-UK 3 101094147 101094147 single base substitution G T intron_variant PRAD-UK 3 101097650 101097650 insertion of <=200bp - A intron_variant PRAD-UK 3 101099693 101099693 deletion of <=200bp A - intron_variant PRAD-UK 3 101100840 101100840 single base substitution T C intron_variant PRAD-UK 3 101112625 101112625 single base substitution A G intron_variant PRAD-UK 3 101125899 101125899 single base substitution T C intron_variant PRAD-UK 3 101129138 101129138 single base substitution T C intron_variant PRAD-UK 3 101133109 101133109 single base substitution G A intron_variant PRAD-UK 3 101147180 101147180 single base substitution C G intron_variant PRAD-UK 3 101147526 101147526 deletion of <=200bp G - intron_variant PRAD-UK 3 101152986 101152986 single base substitution A G intron_variant PRAD-UK 3 101171660 101171660 single base substitution A G intron_variant PRAD-UK 3 101174027 101174027 deletion of <=200bp G - intron_variant PRAD-UK 3 101196801 101196801 insertion of <=200bp - T intron_variant PRAD-UK 3 101196809 101196809 insertion of <=200bp - T intron_variant PRAD-UK 3 101199079 101199079 single base substitution C A intron_variant PRAD-UK 3 101202755 101202755 single base substitution C A intron_variant PRAD-UK 3 101213861 101213861 single base substitution T A intron_variant PRAD-UK 3 101220085 101220085 single base substitution T G intron_variant PRAD-US 3 101047392 101047392 single base substitution T C splice_acceptor_variant PRAD-US 3 101049201 101049201 single base substitution A G missense_variant S746P 2236T>C PRAD-US 3 101049201 101049201 single base substitution A G missense_variant S844P 2530T>C PRAD-US 3 101049201 101049201 single base substitution A G missense_variant S845P 2533T>C PRAD-US 3 101049201 101049201 single base substitution A G missense_variant S877P 2629T>C PRAD-US 3 101049201 101049201 single base substitution A G missense_variant S910P 2728T>C PRAD-US 3 101049201 101049201 single base substitution A G missense_variant S98P 292T>C PRAD-US 3 101060605 101060605 single base substitution C T missense_variant A545T 1633G>A PRAD-US 3 101060605 101060605 single base substitution C T missense_variant A643T 1927G>A PRAD-US 3 101060605 101060605 single base substitution C T missense_variant A644T 1930G>A PRAD-US 3 101060605 101060605 single base substitution C T missense_variant A676T 2026G>A PRAD-US 3 101060605 101060605 single base substitution C T missense_variant A709T 2125G>A PRAD-US 3 101060605 101060605 single base substitution C T upstream_gene_variant READ-US 3 101047523 101047523 single base substitution G A missense_variant S109L 326C>T READ-US 3 101047523 101047523 single base substitution G A missense_variant S757L 2270C>T READ-US 3 101047523 101047523 single base substitution G A missense_variant S855L 2564C>T READ-US 3 101047523 101047523 single base substitution G A missense_variant S856L 2567C>T READ-US 3 101047523 101047523 single base substitution G A missense_variant S888L 2663C>T READ-US 3 101047523 101047523 single base substitution G A missense_variant S921L 2762C>T READ-US 3 101056434 101056434 single base substitution C T exon_variant READ-US 3 101056434 101056434 single base substitution C T missense_variant R636Q 1907G>A READ-US 3 101056434 101056434 single base substitution C T missense_variant R734Q 2201G>A READ-US 3 101056434 101056434 single base substitution C T missense_variant R735Q 2204G>A READ-US 3 101056434 101056434 single base substitution C T missense_variant R767Q 2300G>A READ-US 3 101056434 101056434 single base substitution C T missense_variant R800Q 2399G>A READ-US 3 101056434 101056434 single base substitution C T upstream_gene_variant READ-US 3 101086730 101086730 single base substitution T G missense_variant N144H 430A>C READ-US 3 101086730 101086730 single base substitution T G missense_variant N242H 724A>C READ-US 3 101086730 101086730 single base substitution T G missense_variant N243H 727A>C READ-US 3 101086730 101086730 single base substitution T G missense_variant N275H 823A>C READ-US 3 101086730 101086730 single base substitution T G missense_variant N308H 922A>C RECA-EU 3 101044122 101044122 single base substitution C G 3_prime_UTR_variant RECA-EU 3 101044122 101044122 single base substitution C G downstream_gene_variant RECA-EU 3 101047306 101047306 single base substitution A T intron_variant RECA-EU 3 101075872 101075872 single base substitution T C intron_variant RECA-EU 3 101101037 101101037 single base substitution T A intron_variant RECA-EU 3 101103677 101103677 single base substitution C T intron_variant RECA-EU 3 101105508 101105508 single base substitution T C intron_variant RECA-EU 3 101108373 101108373 single base substitution C A intron_variant RECA-EU 3 101126756 101126756 single base substitution A C intron_variant RECA-EU 3 101135777 101135777 single base substitution A C intron_variant RECA-EU 3 101138303 101138303 single base substitution T C intron_variant RECA-EU 3 101151182 101151182 single base substitution T C intron_variant RECA-EU 3 101165865 101165865 single base substitution A G intron_variant RECA-EU 3 101166073 101166073 single base substitution G T intron_variant RECA-EU 3 101185840 101185840 single base substitution C A intron_variant RECA-EU 3 101188988 101188988 single base substitution C T intron_variant RECA-EU 3 101198763 101198763 single base substitution A C intron_variant RECA-EU 3 101200228 101200228 single base substitution A T intron_variant RECA-EU 3 101222539 101222539 single base substitution C A intron_variant RECA-EU 3 101222541 101222541 single base substitution G T intron_variant RECA-EU 3 101225008 101225008 single base substitution G A intron_variant RECA-EU 3 101227335 101227335 single base substitution C G intron_variant RECA-EU 3 101236350 101236350 single base substitution C A upstream_gene_variant SKCA-BR 3 101038678 101038678 single base substitution T A downstream_gene_variant SKCA-BR 3 101042792 101042794 deletion of <=200bp ACC - downstream_gene_variant SKCA-BR 3 101044463 101044463 single base substitution A C 3_prime_UTR_variant SKCA-BR 3 101044463 101044463 single base substitution A C downstream_gene_variant SKCA-BR 3 101045544 101045544 single base substitution C T intron_variant SKCA-BR 3 101049348 101049348 single base substitution G A intron_variant SKCA-BR 3 101052030 101052030 single base substitution T G 5_prime_UTR_variant SKCA-BR 3 101052030 101052030 single base substitution T G downstream_gene_variant SKCA-BR 3 101052030 101052030 single base substitution T G intron_variant SKCA-BR 3 101053344 101053344 single base substitution T C downstream_gene_variant SKCA-BR 3 101053344 101053344 single base substitution T C intron_variant SKCA-BR 3 101053344 101053344 single base substitution T C upstream_gene_variant SKCA-BR 3 101055018 101055018 single base substitution C A downstream_gene_variant SKCA-BR 3 101055018 101055018 single base substitution C A intron_variant SKCA-BR 3 101055018 101055018 single base substitution C A upstream_gene_variant SKCA-BR 3 101055630 101055630 single base substitution C T downstream_gene_variant SKCA-BR 3 101055630 101055630 single base substitution C T intron_variant SKCA-BR 3 101055630 101055630 single base substitution C T upstream_gene_variant SKCA-BR 3 101061318 101061318 single base substitution G A downstream_gene_variant SKCA-BR 3 101061318 101061318 single base substitution G A intron_variant SKCA-BR 3 101061318 101061318 single base substitution G A upstream_gene_variant SKCA-BR 3 101061619 101061619 single base substitution C T downstream_gene_variant SKCA-BR 3 101061619 101061619 single base substitution C T intron_variant SKCA-BR 3 101061619 101061619 single base substitution C T upstream_gene_variant SKCA-BR 3 101063306 101063306 single base substitution A T downstream_gene_variant SKCA-BR 3 101063306 101063306 single base substitution A T intron_variant SKCA-BR 3 101063306 101063306 single base substitution A T upstream_gene_variant SKCA-BR 3 101065003 101065003 single base substitution G A downstream_gene_variant SKCA-BR 3 101065003 101065003 single base substitution G A intron_variant SKCA-BR 3 101066170 101066170 single base substitution G A 3_prime_UTR_variant SKCA-BR 3 101066170 101066170 single base substitution G A intron_variant SKCA-BR 3 101066565 101066565 insertion of <=200bp - CA intron_variant SKCA-BR 3 101066583 101066583 single base substitution G A intron_variant SKCA-BR 3 101068558 101068558 single base substitution T A intron_variant SKCA-BR 3 101068558 101068558 single base substitution T A upstream_gene_variant SKCA-BR 3 101069407 101069407 single base substitution C A intron_variant SKCA-BR 3 101069407 101069407 single base substitution C A upstream_gene_variant SKCA-BR 3 101070663 101070663 single base substitution G A intron_variant SKCA-BR 3 101070663 101070663 single base substitution G A upstream_gene_variant SKCA-BR 3 101077826 101077826 single base substitution G A intron_variant SKCA-BR 3 101080062 101080062 insertion of <=200bp - CG intron_variant SKCA-BR 3 101080063 101080063 single base substitution C A intron_variant SKCA-BR 3 101080063 101080063 single base substitution C G intron_variant SKCA-BR 3 101080485 101080485 single base substitution G A intron_variant SKCA-BR 3 101083826 101083826 single base substitution G A missense_variant S279F 836C>T SKCA-BR 3 101083826 101083826 single base substitution G A missense_variant S377F 1130C>T SKCA-BR 3 101083826 101083826 single base substitution G A missense_variant S378F 1133C>T SKCA-BR 3 101083826 101083826 single base substitution G A missense_variant S410F 1229C>T SKCA-BR 3 101083826 101083826 single base substitution G A missense_variant S443F 1328C>T SKCA-BR 3 101084695 101084695 single base substitution G A intron_variant SKCA-BR 3 101084937 101084937 single base substitution C T intron_variant SKCA-BR 3 101085683 101085688 deletion of <=200bp TAAAAA - intron_variant SKCA-BR 3 101086772 101086772 single base substitution C T missense_variant E130K 388G>A SKCA-BR 3 101086772 101086772 single base substitution C T missense_variant E228K 682G>A SKCA-BR 3 101086772 101086772 single base substitution C T missense_variant E229K 685G>A SKCA-BR 3 101086772 101086772 single base substitution C T missense_variant E261K 781G>A SKCA-BR 3 101086772 101086772 single base substitution C T missense_variant E294K 880G>A SKCA-BR 3 101087445 101087445 single base substitution A G intron_variant SKCA-BR 3 101088551 101088551 single base substitution G A intron_variant SKCA-BR 3 101088576 101088577 deletion of <=200bp TC - intron_variant SKCA-BR 3 101093615 101093615 insertion of <=200bp - CA intron_variant SKCA-BR 3 101094385 101094386 deletion of <=200bp TC - intron_variant SKCA-BR 3 101094387 101094387 single base substitution C A intron_variant SKCA-BR 3 101094413 101094413 single base substitution G A intron_variant SKCA-BR 3 101098768 101098768 single base substitution A C intron_variant SKCA-BR 3 101099279 101099280 deletion of <=200bp GC - intron_variant SKCA-BR 3 101099307 101099307 single base substitution C A intron_variant SKCA-BR 3 101104110 101104110 single base substitution G A intron_variant SKCA-BR 3 101105904 101105904 single base substitution C T intron_variant SKCA-BR 3 101108148 101108148 single base substitution G A intron_variant SKCA-BR 3 101111640 101111640 single base substitution A G intron_variant SKCA-BR 3 101113360 101113360 insertion of <=200bp - AT intron_variant SKCA-BR 3 101115930 101115930 single base substitution A C intron_variant SKCA-BR 3 101118020 101118020 single base substitution A C intron_variant SKCA-BR 3 101118093 101118093 single base substitution G T intron_variant SKCA-BR 3 101118140 101118158 deletion of <=200bp TAATTATACTAATGGATGC - intron_variant SKCA-BR 3 101119577 101119577 insertion of <=200bp - TA intron_variant SKCA-BR 3 101125333 101125333 single base substitution G A intron_variant SKCA-BR 3 101126017 101126017 single base substitution G A intron_variant SKCA-BR 3 101133165 101133165 single base substitution C A intron_variant SKCA-BR 3 101133177 101133177 single base substitution C T intron_variant SKCA-BR 3 101133178 101133178 single base substitution T C intron_variant SKCA-BR 3 101133189 101133189 single base substitution C G intron_variant SKCA-BR 3 101133195 101133195 single base substitution C T intron_variant SKCA-BR 3 101133199 101133199 single base substitution C A intron_variant SKCA-BR 3 101133219 101133219 single base substitution C T intron_variant SKCA-BR 3 101133220 101133220 single base substitution A G intron_variant SKCA-BR 3 101133225 101133225 single base substitution G A intron_variant SKCA-BR 3 101133227 101133227 single base substitution A T intron_variant SKCA-BR 3 101133237 101133237 single base substitution G T intron_variant SKCA-BR 3 101133239 101133239 single base substitution T C intron_variant SKCA-BR 3 101133247 101133247 single base substitution C T intron_variant SKCA-BR 3 101133250 101133250 single base substitution G T intron_variant SKCA-BR 3 101133447 101133447 single base substitution G A intron_variant SKCA-BR 3 101133454 101133454 single base substitution G C intron_variant SKCA-BR 3 101133881 101133881 single base substitution G A intron_variant SKCA-BR 3 101133900 101133900 single base substitution A T intron_variant SKCA-BR 3 101133901 101133901 single base substitution C T intron_variant SKCA-BR 3 101133931 101133931 single base substitution C T intron_variant SKCA-BR 3 101133948 101133953 deletion of <=200bp TAGAAG - intron_variant SKCA-BR 3 101133956 101133956 single base substitution A G intron_variant SKCA-BR 3 101133957 101133957 single base substitution A G intron_variant SKCA-BR 3 101133985 101133985 single base substitution T C intron_variant SKCA-BR 3 101134069 101134069 single base substitution T C intron_variant SKCA-BR 3 101134075 101134075 single base substitution G A intron_variant SKCA-BR 3 101134081 101134081 insertion of <=200bp - TGTG intron_variant SKCA-BR 3 101134095 101134095 single base substitution G A intron_variant SKCA-BR 3 101134159 101134159 single base substitution C G intron_variant SKCA-BR 3 101134393 101134393 single base substitution C T intron_variant SKCA-BR 3 101136832 101136832 single base substitution G A intron_variant SKCA-BR 3 101141351 101141351 single base substitution G A intron_variant SKCA-BR 3 101143253 101143253 single base substitution G C intron_variant SKCA-BR 3 101143437 101143437 single base substitution A C intron_variant SKCA-BR 3 101143884 101143884 single base substitution A T intron_variant SKCA-BR 3 101145595 101145595 single base substitution G A intron_variant SKCA-BR 3 101146334 101146334 insertion of <=200bp - CA intron_variant SKCA-BR 3 101146559 101146559 single base substitution A G intron_variant SKCA-BR 3 101147725 101147725 single base substitution G A intron_variant SKCA-BR 3 101148051 101148051 insertion of <=200bp - GT intron_variant SKCA-BR 3 101148309 101148309 single base substitution G A intron_variant SKCA-BR 3 101148698 101148698 single base substitution G T intron_variant SKCA-BR 3 101149106 101149106 single base substitution G A intron_variant SKCA-BR 3 101150627 101150627 insertion of <=200bp - CA intron_variant SKCA-BR 3 101152175 101152175 single base substitution G A intron_variant SKCA-BR 3 101152250 101152250 single base substitution G A intron_variant SKCA-BR 3 101154495 101154495 single base substitution G A intron_variant SKCA-BR 3 101154839 101154839 single base substitution G A intron_variant SKCA-BR 3 101155595 101155595 single base substitution G A intron_variant SKCA-BR 3 101155669 101155669 single base substitution G A intron_variant SKCA-BR 3 101157832 101157832 single base substitution T C intron_variant SKCA-BR 3 101158456 101158456 single base substitution C T intron_variant SKCA-BR 3 101158733 101158733 single base substitution G A intron_variant SKCA-BR 3 101159425 101159427 deletion of <=200bp TAA - intron_variant SKCA-BR 3 101159428 101159428 single base substitution A T intron_variant SKCA-BR 3 101161406 101161418 deletion of <=200bp CCAGTCCATGGCT - intron_variant SKCA-BR 3 101162302 101162307 deletion of <=200bp TTAAAG - intron_variant SKCA-BR 3 101163056 101163056 single base substitution G C intron_variant SKCA-BR 3 101166357 101166357 single base substitution G A intron_variant SKCA-BR 3 101167982 101167982 single base substitution G A intron_variant SKCA-BR 3 101168392 101168392 single base substitution G C intron_variant SKCA-BR 3 101172057 101172057 single base substitution A G intron_variant SKCA-BR 3 101173625 101173625 single base substitution T C intron_variant SKCA-BR 3 101173956 101173956 single base substitution G A intron_variant SKCA-BR 3 101174506 101174506 single base substitution C T intron_variant SKCA-BR 3 101176188 101176188 single base substitution G A intron_variant SKCA-BR 3 101177813 101177813 single base substitution C T synonymous_variant K57K 171G>A SKCA-BR 3 101177813 101177813 single base substitution C T synonymous_variant K90K 270G>A SKCA-BR 3 101178738 101178738 single base substitution G A intron_variant SKCA-BR 3 101179289 101179289 single base substitution G A intron_variant SKCA-BR 3 101181028 101181028 single base substitution G A intron_variant SKCA-BR 3 101182224 101182224 single base substitution T C intron_variant SKCA-BR 3 101182279 101182279 single base substitution A C intron_variant SKCA-BR 3 101185702 101185702 single base substitution G A intron_variant SKCA-BR 3 101187821 101187821 single base substitution A G intron_variant SKCA-BR 3 101189950 101189950 single base substitution C G intron_variant SKCA-BR 3 101190970 101190970 single base substitution A G intron_variant SKCA-BR 3 101196589 101196589 single base substitution G A intron_variant SKCA-BR 3 101198303 101198303 single base substitution A C intron_variant SKCA-BR 3 101198765 101198765 single base substitution A C intron_variant SKCA-BR 3 101199920 101199920 insertion of <=200bp - CA intron_variant SKCA-BR 3 101203737 101203737 single base substitution G C intron_variant SKCA-BR 3 101205678 101205678 single base substitution G A intron_variant SKCA-BR 3 101209052 101209052 insertion of <=200bp - CA intron_variant SKCA-BR 3 101209970 101209970 insertion of <=200bp - CT intron_variant SKCA-BR 3 101210292 101210292 single base substitution A G intron_variant SKCA-BR 3 101211675 101211675 single base substitution C A intron_variant SKCA-BR 3 101212692 101212692 single base substitution A G intron_variant SKCA-BR 3 101215400 101215400 single base substitution A C intron_variant SKCA-BR 3 101215737 101215737 single base substitution A G intron_variant SKCA-BR 3 101216987 101216987 single base substitution G A intron_variant SKCA-BR 3 101217739 101217739 single base substitution G A intron_variant SKCA-BR 3 101218316 101218316 single base substitution G A intron_variant SKCA-BR 3 101221339 101221339 single base substitution T G intron_variant SKCA-BR 3 101221765 101221766 deletion of <=200bp TA - intron_variant SKCA-BR 3 101221766 101221766 single base substitution A T intron_variant SKCA-BR 3 101221767 101221767 single base substitution A T intron_variant SKCA-BR 3 101226166 101226166 single base substitution A G intron_variant SKCA-BR 3 101229167 101229167 single base substitution G A intron_variant SKCA-BR 3 101231684 101231684 single base substitution C T intron_variant SKCA-BR 3 101232055 101232056 deletion of <=200bp AG - 5_prime_UTR_variant SKCA-BR 3 101232055 101232056 deletion of <=200bp AG - upstream_gene_variant SKCA-BR 3 101232056 101232069 deletion of <=200bp GGAAAAAAAAAAAA - 5_prime_UTR_variant SKCA-BR 3 101232056 101232069 deletion of <=200bp GGAAAAAAAAAAAA - upstream_gene_variant SKCA-BR 3 101232057 101232057 single base substitution G A 5_prime_UTR_variant SKCA-BR 3 101232057 101232057 single base substitution G A upstream_gene_variant SKCA-BR 3 101233663 101233663 single base substitution C T upstream_gene_variant SKCA-BR 3 101234011 101234011 insertion of <=200bp - GA upstream_gene_variant SKCA-BR 3 101234313 101234313 single base substitution G A upstream_gene_variant SKCA-BR 3 101234552 101234552 single base substitution T C upstream_gene_variant SKCM-US 3 101044876 101044876 single base substitution G A missense_variant P1022S 3064C>T SKCM-US 3 101044876 101044876 single base substitution G A missense_variant P210S 628C>T SKCM-US 3 101044876 101044876 single base substitution G A missense_variant P858S 2572C>T SKCM-US 3 101044876 101044876 single base substitution G A missense_variant P956S 2866C>T SKCM-US 3 101044876 101044876 single base substitution G A missense_variant P957S 2869C>T SKCM-US 3 101044876 101044876 single base substitution G A missense_variant P989S 2965C>T SKCM-US 3 101044921 101044921 single base substitution G A missense_variant P1007S 3019C>T SKCM-US 3 101044921 101044921 single base substitution G A missense_variant P195S 583C>T SKCM-US 3 101044921 101044921 single base substitution G A missense_variant P843S 2527C>T SKCM-US 3 101044921 101044921 single base substitution G A missense_variant P941S 2821C>T SKCM-US 3 101044921 101044921 single base substitution G A missense_variant P942S 2824C>T SKCM-US 3 101044921 101044921 single base substitution G A missense_variant P974S 2920C>T SKCM-US 3 101044924 101044924 single base substitution C T missense_variant D1006N 3016G>A SKCM-US 3 101044924 101044924 single base substitution C T missense_variant D194N 580G>A SKCM-US 3 101044924 101044924 single base substitution C T missense_variant D842N 2524G>A SKCM-US 3 101044924 101044924 single base substitution C T missense_variant D940N 2818G>A SKCM-US 3 101044924 101044924 single base substitution C T missense_variant D941N 2821G>A SKCM-US 3 101044924 101044924 single base substitution C T missense_variant D973N 2917G>A SKCM-US 3 101049186 101049186 single base substitution C T missense_variant D103N 307G>A SKCM-US 3 101049186 101049186 single base substitution C T missense_variant D751N 2251G>A SKCM-US 3 101049186 101049186 single base substitution C T missense_variant D849N 2545G>A SKCM-US 3 101049186 101049186 single base substitution C T missense_variant D850N 2548G>A SKCM-US 3 101049186 101049186 single base substitution C T missense_variant D882N 2644G>A SKCM-US 3 101049186 101049186 single base substitution C T missense_variant D915N 2743G>A SKCM-US 3 101056353 101056353 single base substitution G A exon_variant SKCM-US 3 101056353 101056353 single base substitution G A missense_variant S663L 1988C>T SKCM-US 3 101056353 101056353 single base substitution G A missense_variant S761L 2282C>T SKCM-US 3 101056353 101056353 single base substitution G A missense_variant S762L 2285C>T SKCM-US 3 101056353 101056353 single base substitution G A missense_variant S794L 2381C>T SKCM-US 3 101056353 101056353 single base substitution G A missense_variant S827L 2480C>T SKCM-US 3 101056353 101056353 single base substitution G A upstream_gene_variant SKCM-US 3 101056363 101056363 single base substitution G A exon_variant SKCM-US 3 101056363 101056363 single base substitution G A missense_variant P660S 1978C>T SKCM-US 3 101056363 101056363 single base substitution G A missense_variant P758S 2272C>T SKCM-US 3 101056363 101056363 single base substitution G A missense_variant P759S 2275C>T SKCM-US 3 101056363 101056363 single base substitution G A missense_variant P791S 2371C>T SKCM-US 3 101056363 101056363 single base substitution G A missense_variant P824S 2470C>T SKCM-US 3 101056363 101056363 single base substitution G A upstream_gene_variant SKCM-US 3 101058952 101058952 single base substitution C G exon_variant SKCM-US 3 101058952 101058952 single base substitution C G missense_variant D618H 1852G>C SKCM-US 3 101058952 101058952 single base substitution C G missense_variant D716H 2146G>C SKCM-US 3 101058952 101058952 single base substitution C G missense_variant D717H 2149G>C SKCM-US 3 101058952 101058952 single base substitution C G missense_variant D749H 2245G>C SKCM-US 3 101058952 101058952 single base substitution C G missense_variant D782H 2344G>C SKCM-US 3 101059023 101059023 single base substitution C T exon_variant SKCM-US 3 101059023 101059023 single base substitution C T missense_variant G594E 1781G>A SKCM-US 3 101059023 101059023 single base substitution C T missense_variant G692E 2075G>A SKCM-US 3 101059023 101059023 single base substitution C T missense_variant G693E 2078G>A SKCM-US 3 101059023 101059023 single base substitution C T missense_variant G725E 2174G>A SKCM-US 3 101059023 101059023 single base substitution C T missense_variant G758E 2273G>A SKCM-US 3 101060585 101060585 single base substitution G A synonymous_variant F551F 1653C>T SKCM-US 3 101060585 101060585 single base substitution G A synonymous_variant F649F 1947C>T SKCM-US 3 101060585 101060585 single base substitution G A synonymous_variant F650F 1950C>T SKCM-US 3 101060585 101060585 single base substitution G A synonymous_variant F682F 2046C>T SKCM-US 3 101060585 101060585 single base substitution G A synonymous_variant F715F 2145C>T SKCM-US 3 101060585 101060585 single base substitution G A upstream_gene_variant SKCM-US 3 101062652 101062652 single base substitution G A downstream_gene_variant SKCM-US 3 101062652 101062652 single base substitution G A missense_variant P498S 1492C>T SKCM-US 3 101062652 101062652 single base substitution G A missense_variant P596S 1786C>T SKCM-US 3 101062652 101062652 single base substitution G A missense_variant P597S 1789C>T SKCM-US 3 101062652 101062652 single base substitution G A missense_variant P629S 1885C>T SKCM-US 3 101062652 101062652 single base substitution G A missense_variant P662S 1984C>T SKCM-US 3 101062652 101062652 single base substitution G A upstream_gene_variant SKCM-US 3 101062792 101062792 single base substitution G A downstream_gene_variant SKCM-US 3 101062792 101062792 single base substitution G A missense_variant S451F 1352C>T SKCM-US 3 101062792 101062792 single base substitution G A missense_variant S549F 1646C>T SKCM-US 3 101062792 101062792 single base substitution G A missense_variant S550F 1649C>T SKCM-US 3 101062792 101062792 single base substitution G A missense_variant S582F 1745C>T SKCM-US 3 101062792 101062792 single base substitution G A missense_variant S615F 1844C>T SKCM-US 3 101062792 101062792 single base substitution G A upstream_gene_variant SKCM-US 3 101066822 101066822 single base substitution A T missense_variant D413E 1239T>A SKCM-US 3 101066822 101066822 single base substitution A T missense_variant D511E 1533T>A SKCM-US 3 101066822 101066822 single base substitution A T missense_variant D512E 1536T>A SKCM-US 3 101066822 101066822 single base substitution A T missense_variant D544E 1632T>A SKCM-US 3 101066822 101066822 single base substitution A T missense_variant D577E 1731T>A SKCM-US 3 101066822 101066822 single base substitution A T upstream_gene_variant SKCM-US 3 101086763 101086763 single base substitution G A synonymous_variant L133L 397C>T SKCM-US 3 101086763 101086763 single base substitution G A synonymous_variant L231L 691C>T SKCM-US 3 101086763 101086763 single base substitution G A synonymous_variant L232L 694C>T SKCM-US 3 101086763 101086763 single base substitution G A synonymous_variant L264L 790C>T SKCM-US 3 101086763 101086763 single base substitution G A synonymous_variant L297L 889C>T SKCM-US 3 101086823 101086823 single base substitution G A missense_variant L113F 337C>T SKCM-US 3 101086823 101086823 single base substitution G A missense_variant L211F 631C>T SKCM-US 3 101086823 101086823 single base substitution G A missense_variant L212F 634C>T SKCM-US 3 101086823 101086823 single base substitution G A missense_variant L244F 730C>T SKCM-US 3 101086823 101086823 single base substitution G A missense_variant L277F 829C>T SKCM-US 3 101086844 101086844 single base substitution C T missense_variant G106R 316G>A SKCM-US 3 101086844 101086844 single base substitution C T missense_variant G204R 610G>A SKCM-US 3 101086844 101086844 single base substitution C T missense_variant G205R 613G>A SKCM-US 3 101086844 101086844 single base substitution C T missense_variant G237R 709G>A SKCM-US 3 101086844 101086844 single base substitution C T missense_variant G270R 808G>A SKCM-US 3 101090866 101090866 single base substitution T C missense_variant D195G 584A>G SKCM-US 3 101090866 101090866 single base substitution T C missense_variant D196G 587A>G SKCM-US 3 101090866 101090866 single base substitution T C missense_variant D228G 683A>G SKCM-US 3 101090866 101090866 single base substitution T C missense_variant D261G 782A>G SKCM-US 3 101090866 101090866 single base substitution T C missense_variant D97G 290A>G SKCM-US 3 101117834 101117834 single base substitution G A intron_variant SKCM-US 3 101117834 101117834 single base substitution G A missense_variant P117L 350C>T SKCM-US 3 101117834 101117834 single base substitution G A missense_variant P150L 449C>T SKCM-US 3 101117834 101117834 single base substitution G A missense_variant P183L 548C>T SKCM-US 3 101136570 101136570 single base substitution G A intron_variant SKCM-US 3 101136570 101136570 single base substitution G A synonymous_variant L117L 349C>T SKCM-US 3 101136570 101136570 single base substitution G A synonymous_variant L84L 250C>T SKCM-US 3 101212726 101212726 single base substitution G A synonymous_variant L26L 78C>T SKCM-US 3 101212726 101212726 single base substitution G A synonymous_variant L59L 177C>T SKCM-US 3 101219918 101219918 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 3 101219918 101219918 single base substitution G A intron_variant SKCM-US 3 101219918 101219918 single base substitution G A missense_variant S29L 86C>T STAD-US 3 101038523 101038523 single base substitution C T downstream_gene_variant STAD-US 3 101044872 101044872 single base substitution C T missense_variant R1023H 3068G>A STAD-US 3 101044872 101044872 single base substitution C T missense_variant R211H 632G>A STAD-US 3 101044872 101044872 single base substitution C T missense_variant R859H 2576G>A STAD-US 3 101044872 101044872 single base substitution C T missense_variant R957H 2870G>A STAD-US 3 101044872 101044872 single base substitution C T missense_variant R958H 2873G>A STAD-US 3 101044872 101044872 single base substitution C T missense_variant R990H 2969G>A STAD-US 3 101047497 101047497 single base substitution A G missense_variant C118R 352T>C STAD-US 3 101047497 101047497 single base substitution A G missense_variant C766R 2296T>C STAD-US 3 101047497 101047497 single base substitution A G missense_variant C864R 2590T>C STAD-US 3 101047497 101047497 single base substitution A G missense_variant C865R 2593T>C STAD-US 3 101047497 101047497 single base substitution A G missense_variant C897R 2689T>C STAD-US 3 101047497 101047497 single base substitution A G missense_variant C930R 2788T>C STAD-US 3 101051685 101051685 single base substitution T G downstream_gene_variant STAD-US 3 101051685 101051685 single base substitution T G missense_variant K22N 66A>C STAD-US 3 101051685 101051685 single base substitution T G missense_variant K670N 2010A>C STAD-US 3 101051685 101051685 single base substitution T G missense_variant K768N 2304A>C STAD-US 3 101051685 101051685 single base substitution T G missense_variant K769N 2307A>C STAD-US 3 101051685 101051685 single base substitution T G missense_variant K801N 2403A>C STAD-US 3 101051685 101051685 single base substitution T G missense_variant K834N 2502A>C STAD-US 3 101051696 101051696 single base substitution T C downstream_gene_variant STAD-US 3 101051696 101051696 single base substitution T C missense_variant R19G 55A>G STAD-US 3 101051696 101051696 single base substitution T C missense_variant R667G 1999A>G STAD-US 3 101051696 101051696 single base substitution T C missense_variant R765G 2293A>G STAD-US 3 101051696 101051696 single base substitution T C missense_variant R766G 2296A>G STAD-US 3 101051696 101051696 single base substitution T C missense_variant R798G 2392A>G STAD-US 3 101051696 101051696 single base substitution T C missense_variant R831G 2491A>G STAD-US 3 101060559 101060559 single base substitution T C missense_variant Y560C 1679A>G STAD-US 3 101060559 101060559 single base substitution T C missense_variant Y658C 1973A>G STAD-US 3 101060559 101060559 single base substitution T C missense_variant Y659C 1976A>G STAD-US 3 101060559 101060559 single base substitution T C missense_variant Y691C 2072A>G STAD-US 3 101060559 101060559 single base substitution T C missense_variant Y724C 2171A>G STAD-US 3 101060559 101060559 single base substitution T C upstream_gene_variant STAD-US 3 101060606 101060606 single base substitution C T synonymous_variant A544A 1632G>A STAD-US 3 101060606 101060606 single base substitution C T synonymous_variant A642A 1926G>A STAD-US 3 101060606 101060606 single base substitution C T synonymous_variant A643A 1929G>A STAD-US 3 101060606 101060606 single base substitution C T synonymous_variant A675A 2025G>A STAD-US 3 101060606 101060606 single base substitution C T synonymous_variant A708A 2124G>A STAD-US 3 101060606 101060606 single base substitution C T upstream_gene_variant STAD-US 3 101062557 101062557 single base substitution T G downstream_gene_variant STAD-US 3 101062557 101062557 single base substitution T G missense_variant E529D 1587A>C STAD-US 3 101062557 101062557 single base substitution T G missense_variant E627D 1881A>C STAD-US 3 101062557 101062557 single base substitution T G missense_variant E628D 1884A>C STAD-US 3 101062557 101062557 single base substitution T G missense_variant E660D 1980A>C STAD-US 3 101062557 101062557 single base substitution T G missense_variant E693D 2079A>C STAD-US 3 101062557 101062557 single base substitution T G upstream_gene_variant STAD-US 3 101062680 101062680 single base substitution A C downstream_gene_variant STAD-US 3 101062680 101062680 single base substitution A C synonymous_variant S488S 1464T>G STAD-US 3 101062680 101062680 single base substitution A C synonymous_variant S586S 1758T>G STAD-US 3 101062680 101062680 single base substitution A C synonymous_variant S587S 1761T>G STAD-US 3 101062680 101062680 single base substitution A C synonymous_variant S619S 1857T>G STAD-US 3 101062680 101062680 single base substitution A C synonymous_variant S652S 1956T>G STAD-US 3 101062680 101062680 single base substitution A C upstream_gene_variant STAD-US 3 101062717 101062717 single base substitution G A downstream_gene_variant STAD-US 3 101062717 101062717 single base substitution G A missense_variant T476M 1427C>T STAD-US 3 101062717 101062717 single base substitution G A missense_variant T574M 1721C>T STAD-US 3 101062717 101062717 single base substitution G A missense_variant T575M 1724C>T STAD-US 3 101062717 101062717 single base substitution G A missense_variant T607M 1820C>T STAD-US 3 101062717 101062717 single base substitution G A missense_variant T640M 1919C>T STAD-US 3 101062717 101062717 single base substitution G A upstream_gene_variant STAD-US 3 101083705 101083705 single base substitution T C synonymous_variant L319L 957A>G STAD-US 3 101083705 101083705 single base substitution T C synonymous_variant L417L 1251A>G STAD-US 3 101083705 101083705 single base substitution T C synonymous_variant L418L 1254A>G STAD-US 3 101083705 101083705 single base substitution T C synonymous_variant L450L 1350A>G STAD-US 3 101083705 101083705 single base substitution T C synonymous_variant L483L 1449A>G STAD-US 3 101083732 101083732 single base substitution A G synonymous_variant S310S 930T>C STAD-US 3 101083732 101083732 single base substitution A G synonymous_variant S408S 1224T>C STAD-US 3 101083732 101083732 single base substitution A G synonymous_variant S409S 1227T>C STAD-US 3 101083732 101083732 single base substitution A G synonymous_variant S441S 1323T>C STAD-US 3 101083732 101083732 single base substitution A G synonymous_variant S474S 1422T>C STAD-US 3 101085430 101085430 single base substitution C T missense_variant G224S 670G>A STAD-US 3 101085430 101085430 single base substitution C T missense_variant G322S 964G>A STAD-US 3 101085430 101085430 single base substitution C T missense_variant G323S 967G>A STAD-US 3 101085430 101085430 single base substitution C T missense_variant G355S 1063G>A STAD-US 3 101085430 101085430 single base substitution C T missense_variant G388S 1162G>A STAD-US 3 101085558 101085558 deletion of <=200bp T - frameshift_variant N181 STAD-US 3 101085558 101085558 deletion of <=200bp T - frameshift_variant N279 STAD-US 3 101085558 101085558 deletion of <=200bp T - frameshift_variant N280 STAD-US 3 101085558 101085558 deletion of <=200bp T - frameshift_variant N312 STAD-US 3 101085558 101085558 deletion of <=200bp T - frameshift_variant N345 STAD-US 3 101085608 101085608 deletion of <=200bp T - frameshift_variant K164 STAD-US 3 101085608 101085608 deletion of <=200bp T - frameshift_variant K262 STAD-US 3 101085608 101085608 deletion of <=200bp T - frameshift_variant K263 STAD-US 3 101085608 101085608 deletion of <=200bp T - frameshift_variant K295 STAD-US 3 101085608 101085608 deletion of <=200bp T - frameshift_variant K328 STAD-US 3 101136469 101136469 single base substitution T C intron_variant STAD-US 3 101136469 101136469 single base substitution T C synonymous_variant E117E 351A>G STAD-US 3 101136469 101136469 single base substitution T C synonymous_variant E150E 450A>G STAD-US 3 101136515 101136515 single base substitution A G intron_variant STAD-US 3 101136515 101136515 single base substitution A G missense_variant L102S 305T>C STAD-US 3 101136515 101136515 single base substitution A G missense_variant L135S 404T>C THCA-SA 3 101043820 101043820 single base substitution G C 3_prime_UTR_variant THCA-SA 3 101043820 101043820 single base substitution G C downstream_gene_variant THCA-SA 3 101066717 101066717 single base substitution T A missense_variant Q13H 39A>T THCA-SA 3 101066717 101066717 single base substitution T A missense_variant Q448H 1344A>T THCA-SA 3 101066717 101066717 single base substitution T A missense_variant Q546H 1638A>T THCA-SA 3 101066717 101066717 single base substitution T A missense_variant Q547H 1641A>T THCA-SA 3 101066717 101066717 single base substitution T A missense_variant Q579H 1737A>T THCA-SA 3 101066717 101066717 single base substitution T A missense_variant Q612H 1836A>T THCA-SA 3 101177848 101177848 single base substitution T G missense_variant K46Q 136A>C THCA-SA 3 101177848 101177848 single base substitution T G missense_variant K79Q 235A>C THCA-US 3 101090962 101090962 single base substitution T G missense_variant Q163P 488A>C THCA-US 3 101090962 101090962 single base substitution T G missense_variant Q164P 491A>C THCA-US 3 101090962 101090962 single base substitution T G missense_variant Q196P 587A>C THCA-US 3 101090962 101090962 single base substitution T G missense_variant Q229P 686A>C THCA-US 3 101090962 101090962 single base substitution T G missense_variant Q65P 194A>C UCEC-US 3 101038524 101038524 single base substitution G A downstream_gene_variant UCEC-US 3 101038554 101038554 single base substitution C A downstream_gene_variant UCEC-US 3 101038576 101038576 single base substitution C A downstream_gene_variant UCEC-US 3 101038604 101038604 single base substitution G A downstream_gene_variant UCEC-US 3 101047389 101047389 single base substitution G A missense_variant P121S 361C>T UCEC-US 3 101047389 101047389 single base substitution G A missense_variant P769S 2305C>T UCEC-US 3 101047389 101047389 single base substitution G A missense_variant P867S 2599C>T UCEC-US 3 101047389 101047389 single base substitution G A missense_variant P868S 2602C>T UCEC-US 3 101047389 101047389 single base substitution G A missense_variant P900S 2698C>T UCEC-US 3 101047389 101047389 single base substitution G A missense_variant P933S 2797C>T UCEC-US 3 101051738 101051738 single base substitution A C downstream_gene_variant UCEC-US 3 101051738 101051738 single base substitution A C intron_variant UCEC-US 3 101051738 101051738 single base substitution A C missense_variant L5V 13T>G UCEC-US 3 101056353 101056353 single base substitution G A exon_variant UCEC-US 3 101056353 101056353 single base substitution G A missense_variant S663L 1988C>T UCEC-US 3 101056353 101056353 single base substitution G A missense_variant S761L 2282C>T UCEC-US 3 101056353 101056353 single base substitution G A missense_variant S762L 2285C>T UCEC-US 3 101056353 101056353 single base substitution G A missense_variant S794L 2381C>T UCEC-US 3 101056353 101056353 single base substitution G A missense_variant S827L 2480C>T UCEC-US 3 101056353 101056353 single base substitution G A upstream_gene_variant UCEC-US 3 101058937 101058937 single base substitution A G splice_donor_variant UCEC-US 3 101062618 101062618 single base substitution G T downstream_gene_variant UCEC-US 3 101062618 101062618 single base substitution G T missense_variant S509Y 1526C>A UCEC-US 3 101062618 101062618 single base substitution G T missense_variant S607Y 1820C>A UCEC-US 3 101062618 101062618 single base substitution G T missense_variant S608Y 1823C>A UCEC-US 3 101062618 101062618 single base substitution G T missense_variant S640Y 1919C>A UCEC-US 3 101062618 101062618 single base substitution G T missense_variant S673Y 2018C>A UCEC-US 3 101062618 101062618 single base substitution G T upstream_gene_variant UCEC-US 3 101066774 101066774 single base substitution A G synonymous_variant S429S 1287T>C UCEC-US 3 101066774 101066774 single base substitution A G synonymous_variant S527S 1581T>C UCEC-US 3 101066774 101066774 single base substitution A G synonymous_variant S528S 1584T>C UCEC-US 3 101066774 101066774 single base substitution A G synonymous_variant S560S 1680T>C UCEC-US 3 101066774 101066774 single base substitution A G synonymous_variant S593S 1779T>C UCEC-US 3 101066774 101066774 single base substitution A G upstream_gene_variant UCEC-US 3 101066847 101066847 single base substitution C T missense_variant R405Q 1214G>A UCEC-US 3 101066847 101066847 single base substitution C T missense_variant R503Q 1508G>A UCEC-US 3 101066847 101066847 single base substitution C T missense_variant R504Q 1511G>A UCEC-US 3 101066847 101066847 single base substitution C T missense_variant R536Q 1607G>A UCEC-US 3 101066847 101066847 single base substitution C T missense_variant R569Q 1706G>A UCEC-US 3 101066847 101066847 single base substitution C T upstream_gene_variant UCEC-US 3 101066848 101066848 single base substitution G A missense_variant R405W 1213C>T UCEC-US 3 101066848 101066848 single base substitution G A missense_variant R503W 1507C>T UCEC-US 3 101066848 101066848 single base substitution G A missense_variant R504W 1510C>T UCEC-US 3 101066848 101066848 single base substitution G A missense_variant R536W 1606C>T UCEC-US 3 101066848 101066848 single base substitution G A missense_variant R569W 1705C>T UCEC-US 3 101066848 101066848 single base substitution G A upstream_gene_variant UCEC-US 3 101085529 101085529 single base substitution C A stop_gained E191* 571G>T UCEC-US 3 101085529 101085529 single base substitution C A stop_gained E289* 865G>T UCEC-US 3 101085529 101085529 single base substitution C A stop_gained E290* 868G>T UCEC-US 3 101085529 101085529 single base substitution C A stop_gained E322* 964G>T UCEC-US 3 101085529 101085529 single base substitution C A stop_gained E355* 1063G>T UCEC-US 3 101085535 101085535 single base substitution G A missense_variant P189S 565C>T UCEC-US 3 101085535 101085535 single base substitution G A missense_variant P287S 859C>T UCEC-US 3 101085535 101085535 single base substitution G A missense_variant P288S 862C>T UCEC-US 3 101085535 101085535 single base substitution G A missense_variant P320S 958C>T UCEC-US 3 101085535 101085535 single base substitution G A missense_variant P353S 1057C>T UCEC-US 3 101090920 101090920 single base substitution G A missense_variant A177V 530C>T UCEC-US 3 101090920 101090920 single base substitution G A missense_variant A178V 533C>T UCEC-US 3 101090920 101090920 single base substitution G A missense_variant A210V 629C>T UCEC-US 3 101090920 101090920 single base substitution G A missense_variant A243V 728C>T UCEC-US 3 101090920 101090920 single base substitution G A missense_variant A79V 236C>T UCEC-US 3 101117879 101117879 single base substitution G A intron_variant UCEC-US 3 101117879 101117879 single base substitution G A missense_variant T102M 305C>T UCEC-US 3 101117879 101117879 single base substitution G A missense_variant T135M 404C>T UCEC-US 3 101117879 101117879 single base substitution G A missense_variant T168M 503C>T UCEC-US 3 101136487 101136487 single base substitution C A intron_variant UCEC-US 3 101136487 101136487 single base substitution C A missense_variant E111D 333G>T UCEC-US 3 101136487 101136487 single base substitution C A missense_variant E144D 432G>T UCEC-US 3 101136555 101136555 single base substitution C T intron_variant UCEC-US 3 101136555 101136555 single base substitution C T missense_variant A122T 364G>A UCEC-US 3 101136555 101136555 single base substitution C T missense_variant A89T 265G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-61-1914-01 COSM1327146 c.284G>A p.R95K Substitution - Missense 3:101458955-101458955 - XHDG04 COSM4768087 c.317G>T p.G106V Substitution - Missense 3:101399023-101399023 - TCGA-AP-A051-01 COSM1593195 c.1705C>T p.R569W Substitution - Missense 3:101348004-101348004 - SJDOSTEOS007 COSM5759981 c.2134G>T p.D712Y Substitution - Missense 3:101340120-101340120 - Pat_04_A COSM5863105 c.896C>T p.S299F Substitution - Missense 3:101367912-101367912 - 19 COSM5746160 c.1181T>C p.L394S Substitution - Missense 3:101364931-101364931 - PTC-14C COSM4157103 c.1227T>A p.T409T Substitution - coding silent 3:101364885-101364885 - 2492702 COSM5600445 c.2636T>A p.F879Y Substitution - Missense 3:101332047-101332047 - BD175T COSM5507748 c.2458C>T p.Q820* Substitution - Nonsense 3:101332027-101332027 - CSCC-7-T COSM4481862 c.2550C>T p.Y850Y Substitution - coding silent 3:101332793-101332793 - Au2 COSM5600445 c.2636T>A p.F879Y Substitution - Missense 3:101332047-101332047 - T3090 COSM4724876 c.2398C>T p.R800* Substitution - Nonsense 3:101337591-101337591 - CHEWS002 COSM4583737 c.2349T>C p.D783D Substitution - coding silent 3:101332796-101332796 - SC_9030 COSM5551776 c.384C>G p.D128E Substitution - Missense 3:101398956-101398956 - TCGA-EE-A29L-06 COSM3584632 c.1984C>T p.P662S Substitution - Missense 3:101343808-101343808 - TCGA-66-2800-01 COSM1149529 c.942A>G p.Q314Q Substitution - coding silent 3:101367866-101367866 - TCGA-CG-4442-01 COSM4111883 c.450A>G p.E150E Substitution - coding silent 3:101417625-101417625 - S02360 COSM5696175 c.1220A>G p.E407G Substitution - Missense 3:101364892-101364892 - PDA_013 COSM4998637 c.403C>T p.L135F Substitution - Missense 3:101398937-101398937 - TCGA-33-4582-01 COSM1149526 c.3064C>A p.P1022T Substitution - Missense 3:101326032-101326032 - TCGA-EE-A20B-06 COSM3584627 c.2075G>A p.G692E Substitution - Missense 3:101340179-101340179 - 2492708 COSM3584611 c.3019C>T p.P1007S Substitution - Missense 3:101326077-101326077 - TCGA-EE-A2MR-06 COSM3584637 c.691C>T p.L231L Substitution - coding silent 3:101367919-101367919 - CHC1568T COSM4800249 c.187-2A>G p.? Unknown 3:101459054-101459054 - D-14 COSM4766918 c.1199G>A p.R400H Substitution - Missense 3:101364913-101364913 - pfg016T COSM1642029 c.1493C>T p.T498I Substitution - Missense 3:101348018-101348018 - TCGA-EK-A3GJ-01 COSM4852380 c.2424C>G p.F808L Substitution - Missense 3:101337565-101337565 - HCT15 COSM2915411 c.2821T>C p.L941L Substitution - coding silent 3:101328521-101328521 - CSCC-27-T COSM4463173 c.127C>T p.H43Y Substitution - Missense 3:101493932-101493932 - CSCC-27-T COSM4523388 c.1212G>A p.G404G Substitution - coding silent 3:101366536-101366536 - ESCC_40 COSM5629421 c.2932G>T p.D978Y Substitution - Missense 3:101327749-101327749 - TCGA-BT-A20P-01 COSM419479 c.936G>C p.L312F Substitution - Missense 3:101366614-101366614 - TCGA-FW-A3R5-06 COSM3914405 c.829C>T p.L277F Substitution - Missense 3:101367979-101367979 - TCGA-Q1-A73O-01 COSM4835864 c.2680G>C p.E894Q Substitution - Missense 3:101327803-101327803 - PT48 COSM5931390 c.2194C>T p.P732S Substitution - Missense 3:101341692-101341692 - TCGA-EK-A2PG-01 COSM4819967 c.3143G>A p.S1048N Substitution - Missense 3:101325953-101325953 - TCGA-D7-5579-01 COSM4111861 c.2502A>C p.K834N Substitution - Missense 3:101332841-101332841 - PDA_074 COSM5001982 c.235A>C p.K79Q Substitution - Missense 3:101459004-101459004 - TCGA-DA-A1IC-06 COSM3584639 c.584A>G p.D195G Substitution - Missense 3:101372022-101372022 - TCGA-BS-A0UV-01 COSM1593203 c.2797C>T p.P933S Substitution - Missense 3:101328545-101328545 - TCGA-AX-A0J1-01 COSM1593188 c.364G>A p.A122T Substitution - Missense 3:101417711-101417711 - 446 COSM4435011 c.2604T>G p.C868W Substitution - Missense 3:101328540-101328540 - HCC33 COSM1616662 c.604T>C p.S202P Substitution - Missense 3:101398934-101398934 - CSCC-62-T COSM4483070 c.266C>T p.S89F Substitution - Missense 3:101458973-101458973 - 4_PRE-TREATMENT COSM1724279 c.45C>T p.I15I Substitution - coding silent 3:101501115-101501115 - 392 COSM3723512 c.1488A>G p.E496E Substitution - coding silent 3:101361850-101361850 - CSCC-62-T COSM4449265 c.1908+2T>C p.? Unknown 3:101343684-101343684 - TCGA-74-6584-01 COSM3408070 c.2890A>G p.K964E Substitution - Missense 3:101327791-101327791 - DLD1 COSM4624902 c.92T>C p.I31T Substitution - Missense 3:101493967-101493967 - TCGA-EJ-7782-01 COSM3783635 c.1927G>A p.A643T Substitution - Missense 3:101341761-101341761 - 2497772 COSM5750551 c.2808C>A p.S936R Substitution - Missense 3:101327675-101327675 - TCGA-F5-6814-01 COSM3426836 c.724A>C p.N242H Substitution - Missense 3:101367886-101367886 - SNUH_G40_S1 COSM3682912 c.228T>A p.H76Q Substitution - Missense 3:101459011-101459011 - HCC33T COSM1616663 c.406T>C p.S136P Substitution - Missense 3:101398934-101398934 - BZ30 COSM5758887 c.2853G>A p.Q951Q Substitution - coding silent 3:101328489-101328489 - TCGA-CG-5726-01 COSM4111856 c.2870G>A p.R957H Substitution - Missense 3:101326028-101326028 - PT23_1 COSM5902656 c.1495C>T p.P499S Substitution - Missense 3:101361843-101361843 - CSCC-62-T COSM4449264 c.2106+2T>C p.? Unknown 3:101343684-101343684 - TCGA-CM-5861-01 COSM1417442 c.1476+2T>C p.? Unknown 3:101364832-101364832 - TCGA-CA-6718-01 COSM3695730 c.689G>A p.R230Q Substitution - Missense 3:101372115-101372115 - CSCC-27-T COSM3584633 c.1786C>T p.P596S Substitution - Missense 3:101343808-101343808 - 8069337 COSM4135329 c.2338T>G p.F780V Substitution - Missense 3:101332807-101332807 - T228 COSM4724879 c.1881A>G p.E627E Substitution - coding silent 3:101343713-101343713 - PT08_1 COSM5892916 c.2819C>T p.S940F Substitution - Missense 3:101328523-101328523 - TCGA-CA-6717-01 COSM1417448 c.953C>A p.S318Y Substitution - Missense 3:101367855-101367855 - CSCC-27-T COSM4472135 c.1564C>T p.L522F Substitution - Missense 3:101347947-101347947 - TCGA-AR-A2LE-01 COSM3845655 c.3009C>A p.F1003L Substitution - Missense 3:101327672-101327672 - PT37 COSM5902658 c.187-5C>T p.? Unknown 3:101459057-101459057 - TCGA-74-6584-01 COSM3408071 c.2692A>G p.K898E Substitution - Missense 3:101327791-101327791 - TCGA-CM-6678-01 COSM1417452 c.580G>A p.D194N Substitution - Missense 3:101398958-101398958 - PT55 COSM5863106 c.698C>T p.S233F Substitution - Missense 3:101367912-101367912 - TCGA-D8-A1XK-01 COSM3845661 c.1747T>C p.L583L Substitution - coding silent 3:101343847-101343847 - ESCC_136 COSM5643057 c.305C>G p.T102R Substitution - Missense 3:101399035-101399035 - 8064637 COSM3391928 c.2372A>G p.E791G Substitution - Missense 3:101332773-101332773 - 1743_PT COSM5756132 c.361G>A p.D121N Substitution - Missense 3:101417714-101417714 - 2492709 COSM3584611 c.3019C>T p.P1007S Substitution - Missense 3:101326077-101326077 - SJRHB036A COSM3737709 c.405G>T p.L135F Substitution - Missense 3:101417670-101417670 - TCGA-UB-A7MC-01 COSM4915011 c.449A>G p.E150G Substitution - Missense 3:101417626-101417626 - YUGISMO COSM1693100 c.616G>A p.D206N Substitution - Missense 3:101398922-101398922 - TCGA-AP-A051-01 COSM1035777 c.1507C>T p.R503W Substitution - Missense 3:101348004-101348004 - S02292 COSM5687916 c.682G>T p.E228* Substitution - Nonsense 3:101367928-101367928 - SNUH_G45_S1 COSM1130394 c.1638A>T p.Q546H Substitution - Missense 3:101347873-101347873 - T2940 COSM4724873 c.2831C>T p.A944V Substitution - Missense 3:101328511-101328511 - T3091 COSM4724881 c.15G>C p.K5N Substitution - Missense 3:101513116-101513116 - pfg060T COSM4759438 c.3153G>T p.*1051Y Nonstop extension 3:101325943-101325943 - ESCC_25 COSM5626838 c.1191G>A p.K397K Substitution - coding silent 3:101364921-101364921 - QC2-39-T2 COSM5655471 c.1354C>G p.L452V Substitution - Missense 3:101361786-101361786 - TCGA-EE-A29D-06 COSM3584614 c.3016G>A p.D1006N Substitution - Missense 3:101326080-101326080 - TCGA-D1-A103-01 COSM1035772 c.1820C>A p.S607Y Substitution - Missense 3:101343774-101343774 - HX16T COSM1616661 c.501A>G p.T167T Substitution - coding silent 3:101372105-101372105 - Gp5D COSM2915524 c.966T>C p.G322G Substitution - coding silent 3:101366584-101366584 - BD80T COSM5499541 c.2582G>A p.W861* Substitution - Nonsense 3:101332101-101332101 - TCGA-AP-A059-01 COSM1593192 c.1057C>T p.P353S Substitution - Missense 3:101366691-101366691 - STC291 COSM5059161 c.1437_1438insA p.Y480fs*3 Insertion - Frameshift 3:101351639-101351640 - CSCC-27-T COSM3584632 c.1984C>T p.P662S Substitution - Missense 3:101343808-101343808 - pfg019T COSM1642031 c.906A>G p.L302L Substitution - coding silent 3:101366644-101366644 - CSCC-32-T COSM4482439 c.2606C>T p.P869L Substitution - Missense 3:101332077-101332077 - BCB111T COSM4949830 c.2216G>C p.S739T Substitution - Missense 3:101337575-101337575 - BRC8 COSM5025984 c.2429A>G p.Y810C Substitution - Missense 3:101332056-101332056 - TCGA-28-5208-01 COSM3408077 c.332G>A p.R111Q Substitution - Missense 3:101417743-101417743 - TCGA-CG-5726-01 COSM4111855 c.3068G>A p.R1023H Substitution - Missense 3:101326028-101326028 - ICC001T COSM5807272 c.1437A>C p.K479N Substitution - Missense 3:101351640-101351640 - TCGA-EE-A2M5-06 COSM3914403 c.1731T>A p.D577E Substitution - Missense 3:101347978-101347978 - S02279 COSM3584611 c.3019C>T p.P1007S Substitution - Missense 3:101326077-101326077 - TCGA-AX-A0J0-01 COSM1035772 c.1820C>A p.S607Y Substitution - Missense 3:101343774-101343774 - TCGA-74-6578-01 COSM3408074 c.1352A>C p.D451A Substitution - Missense 3:101361788-101361788 - TCGA-G3-A6UC-01 COSM4929799 c.2150T>A p.F717Y Substitution - Missense 3:101340104-101340104 - TCGA-AG-A002-01 COSM263575 c.1646C>A p.S549Y Substitution - Missense 3:101343948-101343948 - TCGA-AN-A046-01 COSM3845659 c.2207A>C p.H736P Substitution - Missense 3:101337584-101337584 - CSCC-47-T COSM4464320 c.1328C>T p.S443F Substitution - Missense 3:101364982-101364982 - 39 COSM1130394 c.1638A>T p.Q546H Substitution - Missense 3:101347873-101347873 - 10-P8045 COSM4481863 c.2352C>T p.Y784Y Substitution - coding silent 3:101332793-101332793 - TCGA-61-1914-01 COSM1327145 c.284G>A p.R95K Substitution - Missense 3:101458955-101458955 - 2492702 COSM5600446 c.2438T>A p.F813Y Substitution - Missense 3:101332047-101332047 - 520 COSM5612141 c.171G>A p.W57* Substitution - Nonsense 3:101493888-101493888 - TCGA-BP-5178-01 COSM479159 c.1950G>T p.L650L Substitution - coding silent 3:101341738-101341738 - TCGA-HU-8249-01 COSM4111874 c.1721C>T p.T574M Substitution - Missense 3:101343873-101343873 - TCGA-DJ-A1QF-01 COSM3372931 c.686A>C p.Q229P Substitution - Missense 3:101372118-101372118 - OV207 COSM252805 c.479+3A>G p.? Unknown 3:101398858-101398858 - 863TCS COSM673652 c.41-10G>T p.? Unknown 3:101501129-101501129 - TCGA-BT-A2LD-01 COSM1308323 c.96A>G p.R32R Substitution - coding silent 3:101493963-101493963 - ESCC_25 COSM5626837 c.1389G>A p.K463K Substitution - coding silent 3:101364921-101364921 - TCGA-EE-A3AA-06 COSM3584609 c.2866C>T p.P956S Substitution - Missense 3:101326032-101326032 - CSCC-19-T COSM4476864 c.1904C>T p.S635F Substitution - Missense 3:101343690-101343690 - TCGA-BS-A0UV-01 COSM1035770 c.2599C>T p.P867S Substitution - Missense 3:101328545-101328545 - TCGA-BS-A0UV-01 COSM1593190 c.503C>T p.T168M Substitution - Missense 3:101399035-101399035 - 61 COSM5126144 c.1635delA p.K545fs*11 Deletion - Frameshift 3:101351640-101351640 - 250LT COSM1130394 c.1638A>T p.Q546H Substitution - Missense 3:101347873-101347873 - XHDG04 COSM4768086 c.515G>T p.G172V Substitution - Missense 3:101399023-101399023 - 721LT COSM3759564 c.1836A>T p.Q612H Substitution - Missense 3:101347873-101347873 - ESO09T COSM1172910 c.2701A>C p.T901P Substitution - Missense 3:101327782-101327782 - TCGA-CG-5726-01 COSM4111878 c.1251A>G p.L417L Substitution - coding silent 3:101364861-101364861 - TCGA-AM-5820-01 COSM1130394 c.1638A>T p.Q546H Substitution - Missense 3:101347873-101347873 - ATL047 COSM5708383 c.1208C>T p.T403I Substitution - Missense 3:101364904-101364904 - PD11355a COSM5801815 c.1234delG p.D412fs*5 Deletion - Frameshift 3:101366514-101366514 - TCGA-AN-A046-01 COSM3845662 c.1366G>T p.E456* Substitution - Nonsense 3:101364944-101364944 - STC248 COSM5059165 c.490C>T p.R164* Substitution - Nonsense 3:101372116-101372116 - UMC11 COSM2915477 c.1709A>C p.K570T Substitution - Missense 3:101343885-101343885 - BD179T COSM5499812 c.1908+6C>T p.? Unknown 3:101343680-101343680 - PD22365a COSM5790699 c.987A>G p.Q329Q Substitution - coding silent 3:101366761-101366761 - TCGA-D7-5579-01 COSM4111871 c.1956T>G p.S652S Substitution - coding silent 3:101343836-101343836 - BD175T COSM5507747 c.2656C>T p.Q886* Substitution - Nonsense 3:101332027-101332027 - SC_9027 COSM5568954 c.267C>T p.S89S Substitution - coding silent 3:101458972-101458972 - PD4133a COSM4809528 c.2109C>G p.P703P Substitution - coding silent 3:101341777-101341777 - TCGA-EE-A29L-06 COSM3584633 c.1786C>T p.P596S Substitution - Missense 3:101343808-101343808 - CHC1568T COSM4800248 c.187-2A>G p.? Unknown 3:101459054-101459054 - T3118 COSM4724880 c.407C>T p.P136L Substitution - Missense 3:101417668-101417668 - T3090 COSM4724877 c.2200C>T p.R734* Substitution - Nonsense 3:101337591-101337591 - S02342 COSM5692821 c.1978G>T p.A660S Substitution - Missense 3:101343814-101343814 - TCGA-CG-5721-01 COSM4111867 c.2171A>G p.Y724C Substitution - Missense 3:101341715-101341715 - TCGA-FW-A3R5-06 COSM3914407 c.548C>T p.P183L Substitution - Missense 3:101398990-101398990 - BRC39 COSM5025987 c.1039G>A p.E347K Substitution - Missense 3:101366511-101366511 - TCGA-BR-6452-01 COSM4111858 c.2788T>C p.C930R Substitution - Missense 3:101328653-101328653 - LIM2405 COSM4642707 c.380C>A p.A127D Substitution - Missense 3:101417695-101417695 - WA10 COSM238152 c.2088A>G p.V696V Substitution - coding silent 3:101340166-101340166 - TCGA-AP-A054-01 COSM1593201 c.2480C>T p.S827L Substitution - Missense 3:101337509-101337509 - TCGA-EI-6917-01 COSM3426831 c.2564C>T p.S855L Substitution - Missense 3:101328679-101328679 - 71 COSM1130394 c.1638A>T p.Q546H Substitution - Missense 3:101347873-101347873 - CSCC-47-T COSM4464321 c.1130C>T p.S377F Substitution - Missense 3:101364982-101364982 - TCGA-F5-6814-01 COSM3426835 c.922A>C p.N308H Substitution - Missense 3:101367886-101367886 - TCGA-E1-5303-01 COSM1736331 c.269A>C p.K90T Substitution - Missense 3:101458970-101458970 - TCGA-DK-A3IS-01 COSM1308319 c.2111C>G p.S704* Substitution - Nonsense 3:101341775-101341775 - TCGA-BP-5178-01 COSM1136902 c.2148G>T p.L716L Substitution - coding silent 3:101341738-101341738 - TCGA-EE-A29S-06 COSM3584618 c.2545G>A p.D849N Substitution - Missense 3:101330342-101330342 - TCGA-CD-8524-01 COSM4111869 c.2079A>C p.E693D Substitution - Missense 3:101343713-101343713 - TCGA-BR-4280-01 COSM4111884 c.404T>C p.L135S Substitution - Missense 3:101417671-101417671 - TCGA-CA-6717-01 COSM1417446 c.975G>A p.Q325Q Substitution - coding silent 3:101367833-101367833 - STC291 COSM5059160 c.1635_1636insA p.Y546fs*3 Insertion - Frameshift 3:101351639-101351640 - CSCC-49-T COSM4510273 c.831C>T p.L277L Substitution - coding silent 3:101367977-101367977 - CSCC-27-T COSM4523389 c.1014G>A p.G338G Substitution - coding silent 3:101366536-101366536 - CSCC-31-T COSM4529757 c.163G>A p.E55K Substitution - Missense 3:101493896-101493896 - PTC-14C COSM4157102 c.1425T>A p.T475T Substitution - coding silent 3:101364885-101364885 - 520 COSM5612140 c.171G>A p.W57* Substitution - Nonsense 3:101493888-101493888 - D-06 COSM4766500 c.644G>T p.S215I Substitution - Missense 3:101367966-101367966 - TCGA-EE-A20B-06 COSM3584626 c.2273G>A p.G758E Substitution - Missense 3:101340179-101340179 - TCGA-B5-A11E-01 COSM1593191 c.728C>T p.A243V Substitution - Missense 3:101372076-101372076 - CH-103-T2 COSM5650368 c.2296G>T p.D766Y Substitution - Missense 3:101340156-101340156 - YUKAT COSM5397687 c.1933C>T p.P645S Substitution - Missense 3:101341755-101341755 - TCGA-D3-A51J-06 COSM88661 c.2282C>T p.S761L Substitution - Missense 3:101337509-101337509 - ESCC_136 COSM5643056 c.503C>G p.T168R Substitution - Missense 3:101399035-101399035 - HT55 COSM2915455 c.2263G>T p.E755* Substitution - Nonsense 3:101337528-101337528 - TCGA-D8-A1XK-01 COSM3845660 c.1945T>C p.L649L Substitution - coding silent 3:101343847-101343847 - BCB111T COSM4949829 c.2414G>C p.S805T Substitution - Missense 3:101337575-101337575 - TCGA-AG-3892-01 COSM257983 c.2742C>T p.C914C Substitution - coding silent 3:101327741-101327741 - UM-SCC-2 COSM2915508 c.1467A>C p.E489D Substitution - Missense 3:101364843-101364843 - TCGA-HU-A4GQ-01 COSM2915464 c.2124G>A p.A708A Substitution - coding silent 3:101341762-101341762 - TCGA-HU-8249-01 COSM4111873 c.1919C>T p.T640M Substitution - Missense 3:101343873-101343873 - TCGA-CA-6717-01 COSM1417447 c.777G>A p.Q259Q Substitution - coding silent 3:101367833-101367833 - HCC33 COSM1616663 c.406T>C p.S136P Substitution - Missense 3:101398934-101398934 - SW837 COSM4656659 c.2281G>T p.G761* Substitution - Nonsense 3:101340171-101340171 - 44_T COSM3944603 c.2685G>C p.W895C Substitution - Missense 3:101327798-101327798 - T2940 COSM4724874 c.2633C>T p.A878V Substitution - Missense 3:101328511-101328511 - TCGA-D3-A1Q6-06 COSM3584640 c.349C>T p.L117L Substitution - coding silent 3:101417726-101417726 - 392 COSM3723513 c.1290A>G p.E430E Substitution - coding silent 3:101361850-101361850 - P84 COSM1736331 c.269A>C p.K90T Substitution - Missense 3:101458970-101458970 - 2521243 COSM4482440 c.2408C>T p.P803L Substitution - Missense 3:101332077-101332077 - STC248 COSM5059164 c.688C>T p.R230* Substitution - Nonsense 3:101372116-101372116 - 24 COSM4778110 c.2758C>T p.Q920* Substitution - Nonsense 3:101327725-101327725 - PT08_2 COSM5892916 c.2819C>T p.S940F Substitution - Missense 3:101328523-101328523 - TCGA-B5-A0JY-01 COSM1593199 c.2018C>A p.S673Y Substitution - Missense 3:101343774-101343774 - 2492708 COSM3584612 c.2821C>T p.P941S Substitution - Missense 3:101326077-101326077 - TCGA-FW-A3R5-06 COSM3914401 c.2145C>T p.F715F Substitution - coding silent 3:101341741-101341741 - TCGA-AP-A059-01 COSM1035780 c.859C>T p.P287S Substitution - Missense 3:101366691-101366691 - CSCC-27-T COSM4472134 c.1762C>T p.L588F Substitution - Missense 3:101347947-101347947 - 4_RESISTANT COSM1724279 c.45C>T p.I15I Substitution - coding silent 3:101501115-101501115 - TCGA-AA-3818-01 COSM270871 c.1862C>A p.A621D Substitution - Missense 3:101343732-101343732 - TCGA-CD-8524-01 COSM4111870 c.1881A>C p.E627D Substitution - Missense 3:101343713-101343713 - LS174T COSM2915420 c.2720C>T p.S907L Substitution - Missense 3:101330365-101330365 - PD4133a COSM164255 c.1911C>G p.P637P Substitution - coding silent 3:101341777-101341777 - TCGA-EE-A29S-06 COSM3584617 c.2743G>A p.D915N Substitution - Missense 3:101330342-101330342 - T3174 COSM1593201 c.2480C>T p.S827L Substitution - Missense 3:101337509-101337509 - TCGA-D7-5579-01 COSM4111865 c.2293A>G p.R765G Substitution - Missense 3:101332852-101332852 - TCGA-66-2756-01 COSM727544 c.1908+1G>T p.? Unknown 3:101343685-101343685 - CSCC-27-T COSM4472676 c.179C>T p.P60L Substitution - Missense 3:101493880-101493880 - OCC06PT COSM88661 c.2282C>T p.S761L Substitution - Missense 3:101337509-101337509 - pfg006T COSM1642032 c.187T>A p.W63R Substitution - Missense 3:101459052-101459052 - CSCC-27-T COSM1724280 c.45C>T p.I15I Substitution - coding silent 3:101501115-101501115 - TCGA-Q1-A73O-01 COSM4835863 c.2878G>C p.E960Q Substitution - Missense 3:101327803-101327803 - RK106_C01 COSM1632673 c.2722A>G p.T908A Substitution - Missense 3:101327761-101327761 - LUAD-RT-S01866 COSM385172 c.2373G>A p.E791E Substitution - coding silent 3:101332772-101332772 - TCGA-ER-A19E-06 COSM3584623 c.2272C>T p.P758S Substitution - Missense 3:101337519-101337519 - TCGA-EE-A29D-06 COSM2915585 c.86C>T p.S29L Substitution - Missense 3:101501074-101501074 - ESCC_154 COSM5645878 c.1275A>G p.R425R Substitution - coding silent 3:101366473-101366473 - HN_00443 COSM126084 c.778A>G p.T260A Substitution - Missense 3:101367832-101367832 - CSCC-27-T COSM4502394 c.413C>T p.S138L Substitution - Missense 3:101398927-101398927 - LS174T COSM2915421 c.2522C>T p.S841L Substitution - Missense 3:101330365-101330365 - CH-103-T2 COSM5650369 c.2098G>T p.D700Y Substitution - Missense 3:101340156-101340156 - TCGA-AX-A0J0-01 COSM1593193 c.1063G>T p.E355* Substitution - Nonsense 3:101366685-101366685 - TCGA-FW-A3R5-06 COSM3914402 c.1947C>T p.F649F Substitution - coding silent 3:101341741-101341741 - TCGA-EE-A29D-06 COSM3584615 c.2818G>A p.D940N Substitution - Missense 3:101326080-101326080 - 1743_CLM COSM5756132 c.361G>A p.D121N Substitution - Missense 3:101417714-101417714 - CSCC-31-T COSM4529756 c.163G>A p.E55K Substitution - Missense 3:101493896-101493896 - Pat_41_B COSM5863110 c.256C>T p.P86S Substitution - Missense 3:101458983-101458983 - TCGA-23-1021-01 COSM79278 c.1399A>T p.K467* Substitution - Nonsense 3:101361741-101361741 - CACO2 COSM2915488 c.1732G>C p.D578H Substitution - Missense 3:101347977-101347977 - CSCC-27-T COSM4463172 c.127C>T p.H43Y Substitution - Missense 3:101493932-101493932 - S02292 COSM5687915 c.880G>T p.E294* Substitution - Nonsense 3:101367928-101367928 - 2521243 COSM4482439 c.2606C>T p.P869L Substitution - Missense 3:101332077-101332077 - SNUH_G40_S1 COSM3682913 c.228T>A p.H76Q Substitution - Missense 3:101459011-101459011 - 3N45-VS-3T45 COSM4982408 c.831C>G p.L277L Substitution - coding silent 3:101367977-101367977 - HCC12T COSM1616664 c.306G>T p.T102T Substitution - coding silent 3:101417769-101417769 - LS180 COSM2915421 c.2522C>T p.S841L Substitution - Missense 3:101330365-101330365 - TCGA-CA-6717-01 COSM3695680 c.2479T>G p.S827A Substitution - Missense 3:101337510-101337510 - SC_9027 COSM5568955 c.267C>T p.S89S Substitution - coding silent 3:101458972-101458972 - TCGA-AP-A056-01 COSM1593196 c.1706G>A p.R569Q Substitution - Missense 3:101348003-101348003 - TCGA-BT-A20P-01 COSM1133671 c.1134G>C p.L378F Substitution - Missense 3:101366614-101366614 - 250LT COSM3759564 c.1836A>T p.Q612H Substitution - Missense 3:101347873-101347873 - TCGA-AG-A002-01 COSM88661 c.2282C>T p.S761L Substitution - Missense 3:101337509-101337509 - TCGA-AX-A0J0-01 COSM1035779 c.865G>T p.E289* Substitution - Nonsense 3:101366685-101366685 - TCGA-EE-A2MT-06 COSM3584624 c.2344G>C p.D782H Substitution - Missense 3:101340108-101340108 - TCGA-EE-A2MR-06 COSM3584636 c.889C>T p.L297L Substitution - coding silent 3:101367919-101367919 - Pat_04_A COSM5863106 c.698C>T p.S233F Substitution - Missense 3:101367912-101367912 - TCGA-CA-6717-01 COSM1417449 c.755C>A p.S252Y Substitution - Missense 3:101367855-101367855 - PT36 COSM5915224 c.1067C>T p.P356L Substitution - Missense 3:101366483-101366483 - TCGA-EJ-5508-01 COSM1471482 c.2530T>C p.S844P Substitution - Missense 3:101330357-101330357 - CHC892T COSM4960704 c.1600G>A p.G534R Substitution - Missense 3:101361738-101361738 - 446 COSM4435010 c.2802T>G p.C934W Substitution - Missense 3:101328540-101328540 - BZ30 COSM1143066 c.2386G>A p.E796K Substitution - Missense 3:101337603-101337603 - CSCC-49-T COSM167087 c.633C>T p.L211L Substitution - coding silent 3:101367977-101367977 - BD179T COSM5499811 c.2106+6C>T p.? Unknown 3:101343680-101343680 - TCGA-AN-A046-01 COSM3845663 c.1168G>T p.E390* Substitution - Nonsense 3:101364944-101364944 - TCGA-EE-A2MT-06 COSM3584625 c.2146G>C p.D716H Substitution - Missense 3:101340108-101340108 - Gp2D COSM2915523 c.1164T>C p.G388G Substitution - coding silent 3:101366584-101366584 - TCGA-AZ-4315-01 COSM1417438 c.1929T>C p.S643S Substitution - coding silent 3:101343863-101343863 - TCGA-G4-6588-01 COSM1417454 c.330A>T p.G110G Substitution - coding silent 3:101417745-101417745 - STC252 COSM5059162 c.729G>A p.A243A Substitution - coding silent 3:101372075-101372075 - TCGA-CA-6718-01 COSM200046 c.491G>A p.R164Q Substitution - Missense 3:101372115-101372115 - CSCC-62-T COSM4483071 c.266C>T p.S89F Substitution - Missense 3:101458973-101458973 - TCGA-D1-A103-01 COSM1593199 c.2018C>A p.S673Y Substitution - Missense 3:101343774-101343774 - YUKAT COSM5397686 c.2131C>T p.P711S Substitution - Missense 3:101341755-101341755 - PD22365a COSM5790700 c.789A>G p.Q263Q Substitution - coding silent 3:101366761-101366761 - TCGA-GC-A3WC-01 COSM3800826 c.2196A>G p.P732P Substitution - coding silent 3:101341690-101341690 - TCGA-CA-6717-01 COSM1417435 c.2882A>C p.K961T Substitution - Missense 3:101326016-101326016 - TCGA-EE-A29D-06 COSM3584611 c.3019C>T p.P1007S Substitution - Missense 3:101326077-101326077 - HCC2998 COSM2915451 c.2278C>A p.L760I Substitution - Missense 3:101337513-101337513 - TCGA-G9-6369-01 COSM3673787 c.2598-2A>G p.? Unknown 3:101328548-101328548 - pfg060T COSM4759439 c.2955G>T p.*985Y Nonstop extension 3:101325943-101325943 - TCGA-AX-A0J0-01 COSM1593199 c.2018C>A p.S673Y Substitution - Missense 3:101343774-101343774 - TCGA-EI-6917-01 COSM3426833 c.2399G>A p.R800Q Substitution - Missense 3:101337590-101337590 - 4_PRE-TREATMENT COSM1724280 c.45C>T p.I15I Substitution - coding silent 3:101501115-101501115 - TCGA-EE-A2MS-06 COSM3584635 c.1646C>T p.S549F Substitution - Missense 3:101343948-101343948 - 2492709 COSM3584612 c.2821C>T p.P941S Substitution - Missense 3:101326077-101326077 - 8064637 COSM3391927 c.2570A>G p.E857G Substitution - Missense 3:101332773-101332773 - Pat_41_B COSM5863103 c.2942G>A p.G981D Substitution - Missense 3:101325956-101325956 - LUAD-S00484 COSM343009 c.179C>T p.P60L Substitution - Missense 3:101493880-101493880 - TCGA-D8-A1XK-01 COSM3845664 c.1344A>G p.G448G Substitution - coding silent 3:101364966-101364966 - RK035_C01 COSM1632676 c.1448_1449insT p.F485fs*7 Insertion - Frameshift 3:101351628-101351629 - TCGA-AP-A054-01 COSM88661 c.2282C>T p.S761L Substitution - Missense 3:101337509-101337509 - T3174 COSM88661 c.2282C>T p.S761L Substitution - Missense 3:101337509-101337509 - QC2-39-T2 COSM5655470 c.1552C>G p.L518V Substitution - Missense 3:101361786-101361786 - LUAD-YINHD COSM350686 c.922C>T p.Q308* Substitution - Nonsense 3:101366628-101366628 - YUGISMO COSM1693101 c.418G>A p.D140N Substitution - Missense 3:101398922-101398922 - ICC001T COSM5807271 c.1635A>C p.K545N Substitution - Missense 3:101351640-101351640 - TCGA-AR-A2LE-01 COSM3845656 c.2811C>A p.F937L Substitution - Missense 3:101327672-101327672 - YUZINO COSM1686439 c.2751+1G>A p.? Unknown 3:101330333-101330333 - TCGA-D9-A6EC-06 COSM4400939 c.808G>A p.G270R Substitution - Missense 3:101368000-101368000 - TCGA-G3-A6UC-01 COSM4929798 c.2348T>A p.F783Y Substitution - Missense 3:101340104-101340104 - TCGA-20-1685-01 COSM1327148 c.904C>T p.L302L Substitution - coding silent 3:101366646-101366646 - TCGA-BR-6452-01 COSM4111859 c.2590T>C p.C864R Substitution - Missense 3:101328653-101328653 - D-14 COSM4766917 c.1397G>A p.R466H Substitution - Missense 3:101364913-101364913 - CSCC-27-T COSM1724279 c.45C>T p.I15I Substitution - coding silent 3:101501115-101501115 - TCGA-BR-8487-01 COSM4111882 c.964G>A p.G322S Substitution - Missense 3:101366586-101366586 - RK035_C01 COSM1632675 c.1646_1647insT p.F551fs*7 Insertion - Frameshift 3:101351628-101351629 - NCI-H1770 COSM25359 c.1187C>T p.S396F Substitution - Missense 3:101364925-101364925 - SNUH_G16_S1 COSM3759564 c.1836A>T p.Q612H Substitution - Missense 3:101347873-101347873 - TCGA-EI-6917-01 COSM3426834 c.2201G>A p.R734Q Substitution - Missense 3:101337590-101337590 - BD80T COSM5499542 c.2384G>A p.W795* Substitution - Nonsense 3:101332101-101332101 - S02403 COSM5700476 c.1966G>T p.G656C Substitution - Missense 3:101341722-101341722 - YUPTER COSM5397681 c.2902C>T p.R968* Substitution - Nonsense 3:101325996-101325996 - 721LT COSM1130394 c.1638A>T p.Q546H Substitution - Missense 3:101347873-101347873 - LS180 COSM2915420 c.2720C>T p.S907L Substitution - Missense 3:101330365-101330365 - 19 COSM5746159 c.1379T>C p.L460S Substitution - Missense 3:101364931-101364931 - LAU63 COSM233323 c.640G>A p.E214K Substitution - Missense 3:101367970-101367970 - STC252 COSM5059163 c.531G>A p.A177A Substitution - coding silent 3:101372075-101372075 - PT48 COSM5931391 c.1996C>T p.P666S Substitution - Missense 3:101341692-101341692 - pfg019T COSM1642030 c.1104A>G p.L368L Substitution - coding silent 3:101366644-101366644 - RK165_C01 COSM1632678 c.135A>G p.Q45Q Substitution - coding silent 3:101493924-101493924 - TCGA-B5-A11E-01 COSM1593197 c.1779T>C p.S593S Substitution - coding silent 3:101347930-101347930 - 61 COSM5126145 c.1437delA p.K479fs*11 Deletion - Frameshift 3:101351640-101351640 - pfg006T COSM1642033 c.187T>A p.W63R Substitution - Missense 3:101459052-101459052 - PT08_2 COSM5892917 c.2621C>T p.S874F Substitution - Missense 3:101328523-101328523 - 24 COSM4778109 c.2956C>T p.Q986* Substitution - Nonsense 3:101327725-101327725 - sysucc-1150T COSM5452535 c.2790T>G p.C930W Substitution - Missense 3:101328651-101328651 - TCGA-B5-A0JY-01 COSM1035772 c.1820C>A p.S607Y Substitution - Missense 3:101343774-101343774 - CSCC-7-T COSM4535478 c.2197G>A p.D733N Substitution - Missense 3:101341689-101341689 - sysucc-1150T COSM5452536 c.2592T>G p.C864W Substitution - Missense 3:101328651-101328651 - 112527 COSM95241 c.559G>A p.D187N Substitution - Missense 3:101372047-101372047 - TCGA-A3-3316-01 COSM1495247 c.1121-2A>T p.? Unknown 3:101364993-101364993 - TCGA-BR-8487-01 COSM4111881 c.1162G>A p.G388S Substitution - Missense 3:101366586-101366586 - PTC_341 COSM5001982 c.235A>C p.K79Q Substitution - Missense 3:101459004-101459004 - 44_T COSM3944602 c.2883G>C p.W961C Substitution - Missense 3:101327798-101327798 - T3091 COSM4724882 c.15G>C p.K5N Substitution - Missense 3:101513116-101513116 - PT37 COSM5902659 c.187-5C>T p.? Unknown 3:101459057-101459057 - TCGA-A3-3316-01 COSM1495246 c.1319-2A>T p.? Unknown 3:101364993-101364993 - 10-P8045 COSM4481862 c.2550C>T p.Y850Y Substitution - coding silent 3:101332793-101332793 - 8069337 COSM4135328 c.2536T>G p.F846V Substitution - Missense 3:101332807-101332807 - 2492701 COSM5600445 c.2636T>A p.F879Y Substitution - Missense 3:101332047-101332047 - TCGA-DA-A1IC-06 COSM3584638 c.782A>G p.D261G Substitution - Missense 3:101372022-101372022 - TCGA-EJ-7782-01 COSM3783634 c.2125G>A p.A709T Substitution - Missense 3:101341761-101341761 - TCGA-AM-5820-01 COSM3759564 c.1836A>T p.Q612H Substitution - Missense 3:101347873-101347873 - TCGA-85-6561-01 COSM1149527 c.2563G>T p.V855L Substitution - Missense 3:101332780-101332780 - TCGA-B5-A11E-01 COSM1035775 c.1581T>C p.S527S Substitution - coding silent 3:101347930-101347930 - TCGA-AX-A063-01 COSM1035771 c.2159+2T>C p.? Unknown 3:101340093-101340093 - TCGA-EE-A29D-06 COSM2915584 c.86C>T p.S29L Substitution - Missense 3:101501074-101501074 - TCGA-34-2600-01 COSM727542 c.439C>G p.Q147E Substitution - Missense 3:101398901-101398901 - PDA_074 COSM5001983 c.235A>C p.K79Q Substitution - Missense 3:101459004-101459004 - TCGA-BF-A1Q0-01 COSM3584642 c.177C>T p.L59L Substitution - coding silent 3:101493882-101493882 - PTC-7C COSM3723513 c.1290A>G p.E430E Substitution - coding silent 3:101361850-101361850 - TCGA-AX-A063-01 COSM1593200 c.2357+2T>C p.? Unknown 3:101340093-101340093 - S02279 COSM3584612 c.2821C>T p.P941S Substitution - Missense 3:101326077-101326077 - TCGA-D8-A1XK-01 COSM3845665 c.1146A>G p.G382G Substitution - coding silent 3:101364966-101364966 - CSCC-27-T COSM4502393 c.611C>T p.S204L Substitution - Missense 3:101398927-101398927 - TCGA-G9-6369-01 COSM3673786 c.2796-2A>G p.? Unknown 3:101328548-101328548 - YUZINO COSM1686440 c.2553+1G>A p.? Unknown 3:101330333-101330333 - Pat_41_B COSM5863109 c.256C>T p.P86S Substitution - Missense 3:101458983-101458983 - HCC12 COSM1616664 c.306G>T p.T102T Substitution - coding silent 3:101417769-101417769 - TCGA-CA-6717-01 COSM1417434 c.3080A>C p.K1027T Substitution - Missense 3:101326016-101326016 - PDA_013 COSM4998636 c.601C>T p.L201F Substitution - Missense 3:101398937-101398937 - UMC11 COSM2915476 c.1907A>C p.K636T Substitution - Missense 3:101343885-101343885 - SNUH_G15_S1 COSM1130394 c.1638A>T p.Q546H Substitution - Missense 3:101347873-101347873 - TCGA-AA-A00N-01 COSM277213 c.2337T>G p.I779M Substitution - Missense 3:101332808-101332808 - 8069331 COSM4388873 c.2136T>C p.D712D Substitution - coding silent 3:101340118-101340118 - TCGA-BS-A0UV-01 COSM1035783 c.305C>T p.T102M Substitution - Missense 3:101399035-101399035 - pfg043T COSM4759442 c.2809T>G p.F937V Substitution - Missense 3:101327674-101327674 - RK053_C01 COSM3766821 c.230A>G p.K77R Substitution - Missense 3:101459009-101459009 - RK053_C01 COSM3766822 c.230A>G p.K77R Substitution - Missense 3:101459009-101459009 - ESCC_40 COSM5629422 c.2734G>T p.D912Y Substitution - Missense 3:101327749-101327749 - TCGA-CA-6717-01 COSM3695681 c.2281T>G p.S761A Substitution - Missense 3:101337510-101337510 - CSCC-27-T COSM343009 c.179C>T p.P60L Substitution - Missense 3:101493880-101493880 - RK106_C01 COSM1632672 c.2920A>G p.T974A Substitution - Missense 3:101327761-101327761 - TCGA-AN-A046-01 COSM3845658 c.2405A>C p.H802P Substitution - Missense 3:101337584-101337584 - PD11355a COSM5801816 c.1036delG p.D346fs*5 Deletion - Frameshift 3:101366514-101366514 - CHC892T COSM4960705 c.1402G>A p.G468R Substitution - Missense 3:101361738-101361738 - PT23_1 COSM5902658 c.187-5C>T p.? Unknown 3:101459057-101459057 - D-06 COSM4766499 c.842G>T p.S281I Substitution - Missense 3:101367966-101367966 - PTC-7C COSM3723512 c.1488A>G p.E496E Substitution - coding silent 3:101361850-101361850 - ESO09T COSM1172909 c.2899A>C p.T967P Substitution - Missense 3:101327782-101327782 - 39 COSM3759564 c.1836A>T p.Q612H Substitution - Missense 3:101347873-101347873 - TCGA-A6-6140-01 COSM1593201 c.2480C>T p.S827L Substitution - Missense 3:101337509-101337509 - TCGA-20-1685-01 COSM1327147 c.1102C>T p.L368L Substitution - coding silent 3:101366646-101366646 - BCB111T COSM4949829 c.2414G>C p.S805T Substitution - Missense 3:101337575-101337575 - 2492703 COSM5600445 c.2636T>A p.F879Y Substitution - Missense 3:101332047-101332047 - SA214 COSM200034 c.2662C>T p.R888* Substitution - Nonsense 3:101328482-101328482 - TCGA-AR-A0U2-01 COSM445218 c.331C>G p.R111G Substitution - Missense 3:101417744-101417744 - TCGA-BF-A1Q0-01 COSM3584641 c.177C>T p.L59L Substitution - coding silent 3:101493882-101493882 - PT23_1 COSM5902657 c.1297C>T p.P433S Substitution - Missense 3:101361843-101361843 - YUPTER COSM5397680 c.3100C>T p.R1034* Substitution - Nonsense 3:101325996-101325996 - UM-SCC-2 COSM2915509 c.1269A>C p.E423D Substitution - Missense 3:101364843-101364843 - CSCC-7-T COSM4481863 c.2352C>T p.Y784Y Substitution - coding silent 3:101332793-101332793 - CHC1568T COSM4800249 c.187-2A>G p.? Unknown 3:101459054-101459054 - BCB111T COSM4949830 c.2216G>C p.S739T Substitution - Missense 3:101337575-101337575 - HX16T COSM1616660 c.699A>G p.T233T Substitution - coding silent 3:101372105-101372105 - TCGA-34-2600-01 COSM1149530 c.637C>G p.Q213E Substitution - Missense 3:101398901-101398901 - TCGA-EJ-5525-01 COSM1130394 c.1638A>T p.Q546H Substitution - Missense 3:101347873-101347873 - SNUH_G16_S1 COSM1130394 c.1638A>T p.Q546H Substitution - Missense 3:101347873-101347873 - TCGA-D3-A51J-06 COSM1593201 c.2480C>T p.S827L Substitution - Missense 3:101337509-101337509 - CSCC-7-T COSM4535479 c.1999G>A p.D667N Substitution - Missense 3:101341689-101341689 - TCGA-D7-5579-01 COSM4111862 c.2304A>C p.K768N Substitution - Missense 3:101332841-101332841 - PT55 COSM5863105 c.896C>T p.S299F Substitution - Missense 3:101367912-101367912 - TCGA-FW-A3R5-06 COSM3914406 c.631C>T p.L211F Substitution - Missense 3:101367979-101367979 - CHC892T COSM4960705 c.1402G>A p.G468R Substitution - Missense 3:101361738-101361738 - 2492700 COSM5600446 c.2438T>A p.F813Y Substitution - Missense 3:101332047-101332047 - TCGA-AZ-6601-01 COSM1318750 c.331C>T p.R111* Substitution - Nonsense 3:101417744-101417744 - CSCC-19-T COSM4476863 c.2102C>T p.S701F Substitution - Missense 3:101343690-101343690 - 71 COSM3759564 c.1836A>T p.Q612H Substitution - Missense 3:101347873-101347873 - S02342 COSM5692822 c.1780G>T p.A594S Substitution - Missense 3:101343814-101343814 - CHC892T COSM4960704 c.1600G>A p.G534R Substitution - Missense 3:101361738-101361738 - TCGA-AB-2844-03 COSM1318750 c.331C>T p.R111* Substitution - Nonsense 3:101417744-101417744 - TCGA-66-2756-01 COSM1149528 c.2106+1G>T p.? Unknown 3:101343685-101343685 - TCGA-EE-A29D-06 COSM3584612 c.2821C>T p.P941S Substitution - Missense 3:101326077-101326077 - S02403 COSM5700475 c.2164G>T p.G722C Substitution - Missense 3:101341722-101341722 - SJDOSTEOS007 COSM5759980 c.2332G>T p.D778Y Substitution - Missense 3:101340120-101340120 - DLD1 COSM4624903 c.92T>C p.I31T Substitution - Missense 3:101493967-101493967 - TCGA-DJ-A1QF-01 COSM3372932 c.488A>C p.Q163P Substitution - Missense 3:101372118-101372118 - HT55 COSM2915454 c.2461G>T p.E821* Substitution - Nonsense 3:101337528-101337528 - TCGA-66-2800-01 COSM727543 c.744A>G p.Q248Q Substitution - coding silent 3:101367866-101367866 - TCGA-AP-A0LM-01 COSM1593189 c.432G>T p.E144D Substitution - Missense 3:101417643-101417643 - CACO2 COSM2915489 c.1534G>C p.D512H Substitution - Missense 3:101347977-101347977 - T228 COSM4724878 c.2079A>G p.E693E Substitution - coding silent 3:101343713-101343713 - 8069331 COSM4388872 c.2334T>C p.D778D Substitution - coding silent 3:101340118-101340118 - TCGA-33-4582-01 COSM727546 c.2866C>A p.P956T Substitution - Missense 3:101326032-101326032 - TCGA-EE-A2M5-06 COSM3914404 c.1533T>A p.D511E Substitution - Missense 3:101347978-101347978 - PT36 COSM5915223 c.1265C>T p.P422L Substitution - Missense 3:101366483-101366483 - TCGA-ER-A19E-06 COSM3584622 c.2470C>T p.P824S Substitution - Missense 3:101337519-101337519 - S02360 COSM5696174 c.1418A>G p.E473G Substitution - Missense 3:101364892-101364892 - TCGA-DK-A3IS-01 COSM1308320 c.1913C>G p.S638* Substitution - Nonsense 3:101341775-101341775 - RK165_C01 COSM1632677 c.135A>G p.Q45Q Substitution - coding silent 3:101493924-101493924 - TCGA-D7-5579-01 COSM4111872 c.1758T>G p.S586S Substitution - coding silent 3:101343836-101343836 - TCGA-CM-5861-01 COSM1417443 c.1278+2T>C p.? Unknown 3:101364832-101364832 - 2492701 COSM5600446 c.2438T>A p.F813Y Substitution - Missense 3:101332047-101332047 - Gp5D COSM2915523 c.1164T>C p.G388G Substitution - coding silent 3:101366584-101366584 - 587222 COSM1225216 c.2586T>G p.Y862* Substitution - Nonsense 3:101332097-101332097 - TCGA-AN-A0FW-01 COSM445214 c.2743C>T p.P915S Substitution - Missense 3:101327740-101327740 - Pat_63_B COSM5863102 c.3140G>A p.G1047D Substitution - Missense 3:101325956-101325956 - CHC1568T COSM4800248 c.187-2A>G p.? Unknown 3:101459054-101459054 - CSCC-32-T COSM4482440 c.2408C>T p.P803L Substitution - Missense 3:101332077-101332077 - TCGA-23-1021-01 COSM4947317 c.1597A>T p.K533* Substitution - Nonsense 3:101361741-101361741 - pfg016T COSM1642028 c.1691C>T p.T564I Substitution - Missense 3:101348018-101348018 - TCGA-EJ-5508-01 COSM1471481 c.2728T>C p.S910P Substitution - Missense 3:101330357-101330357 - TCGA-EE-A3AA-06 COSM3584608 c.3064C>T p.P1022S Substitution - Missense 3:101326032-101326032 - 587222 COSM1225217 c.2388T>G p.Y796* Substitution - Nonsense 3:101332097-101332097 - TCGA-D9-A6EC-06 COSM4400940 c.610G>A p.G204R Substitution - Missense 3:101368000-101368000 - PTC_341 COSM5001983 c.235A>C p.K79Q Substitution - Missense 3:101459004-101459004 - TCGA-D7-5579-01 COSM4111864 c.2491A>G p.R831G Substitution - Missense 3:101332852-101332852 - TCGA-B5-A11E-01 COSM1035782 c.530C>T p.A177V Substitution - Missense 3:101372076-101372076 - PT23_1 COSM5902659 c.187-5C>T p.? Unknown 3:101459057-101459057 - SNUH_G45_S1 COSM3759564 c.1836A>T p.Q612H Substitution - Missense 3:101347873-101347873 - TCGA-74-6578-01 COSM3408073 c.1550A>C p.D517A Substitution - Missense 3:101361788-101361788 - 2492703 COSM5600446 c.2438T>A p.F813Y Substitution - Missense 3:101332047-101332047 - TCGA-EE-A2MS-06 COSM3584634 c.1844C>T p.S615F Substitution - Missense 3:101343948-101343948 - 2497772 COSM5750550 c.3006C>A p.S1002R Substitution - Missense 3:101327675-101327675 - BRC39 COSM5025986 c.1237G>A p.E413K Substitution - Missense 3:101366511-101366511 - Au2 COSM5600446 c.2438T>A p.F813Y Substitution - Missense 3:101332047-101332047 - TCGA-EI-6917-01 COSM3426830 c.2762C>T p.S921L Substitution - Missense 3:101328679-101328679 - YURAY COSM5397683 c.3067C>T p.R1023C Substitution - Missense 3:101326029-101326029 - BZ30 COSM580500 c.2188G>A p.E730K Substitution - Missense 3:101337603-101337603 - HCC2998 COSM2915450 c.2476C>A p.L826I Substitution - Missense 3:101337513-101337513 - Pat_41_B COSM5863102 c.3140G>A p.G1047D Substitution - Missense 3:101325956-101325956 - HCC33T COSM1616662 c.604T>C p.S202P Substitution - Missense 3:101398934-101398934 - 2492710 COSM3584611 c.3019C>T p.P1007S Substitution - Missense 3:101326077-101326077 - TCGA-CG-5721-01 COSM4111879 c.1422T>C p.S474S Substitution - coding silent 3:101364888-101364888 - PT08_1 COSM5892917 c.2621C>T p.S874F Substitution - Missense 3:101328523-101328523 - SW837 COSM4656660 c.2083G>T p.G695* Substitution - Nonsense 3:101340171-101340171 - TCGA-GC-A3WC-01 COSM3800827 c.1998A>G p.P666P Substitution - coding silent 3:101341690-101341690 - pfg043T COSM4759441 c.3007T>G p.F1003V Substitution - Missense 3:101327674-101327674 - SC_9030 COSM5551775 c.582C>G p.D194E Substitution - Missense 3:101398956-101398956 - ATL047 COSM5708382 c.1406C>T p.T469I Substitution - Missense 3:101364904-101364904 - 0071_CRUK_PC_0071_T1_DNA COSM4420960 c.1375A>G p.T459A Substitution - Missense 3:101361765-101361765 - SNUH_G15_S1 COSM3759564 c.1836A>T p.Q612H Substitution - Missense 3:101347873-101347873 - TCGA-CG-5721-01 COSM4111880 c.1224T>C p.S408S Substitution - coding silent 3:101364888-101364888 - 4_RESISTANT COSM1724280 c.45C>T p.I15I Substitution - coding silent 3:101501115-101501115 - TCGA-HU-A4GQ-01 COSM2915465 c.1926G>A p.A642A Substitution - coding silent 3:101341762-101341762 - TCGA-CG-5726-01 COSM4111877 c.1449A>G p.L483L Substitution - coding silent 3:101364861-101364861 - CHEWS002 COSM4583736 c.2547T>C p.D849D Substitution - coding silent 3:101332796-101332796 - ESCC_BICR_070T COSM5445035 c.410C>T p.S137L Substitution - Missense 3:101417665-101417665 - TCGA-AZ-4315-01 COSM1417439 c.1731T>C p.S577S Substitution - coding silent 3:101343863-101343863 - BRC8 COSM5025983 c.2627A>G p.Y876C Substitution - Missense 3:101332056-101332056 - TCGA-A6-6140-01 COSM88661 c.2282C>T p.S761L Substitution - Missense 3:101337509-101337509 - TCGA-AP-A056-01 COSM1035776 c.1508G>A p.R503Q Substitution - Missense 3:101348003-101348003 - TCGA-EK-A2PG-01 COSM4819968 c.2945G>A p.S982N Substitution - Missense 3:101325953-101325953 - Gp2D COSM2915524 c.966T>C p.G322G Substitution - coding silent 3:101366584-101366584 - TCGA-CG-5721-01 COSM4111868 c.1973A>G p.Y658C Substitution - Missense 3:101341715-101341715 - 2492700 COSM5600445 c.2636T>A p.F879Y Substitution - Missense 3:101332047-101332047 - Pat_63_B COSM5863103 c.2942G>A p.G981D Substitution - Missense 3:101325956-101325956 - YURAY COSM5397684 c.2869C>T p.R957C Substitution - Missense 3:101326029-101326029 - HCT15 COSM2915412 c.2623T>C p.L875L Substitution - coding silent 3:101328521-101328521 - 2492710 COSM3584612 c.2821C>T p.P941S Substitution - Missense 3:101326077-101326077 - BZ30 COSM5758888 c.2655G>A p.Q885Q Substitution - coding silent 3:101328489-101328489 - ESCC_154 COSM5645879 c.1077A>G p.R359R Substitution - coding silent 3:101366473-101366473 - TCGA-85-6561-01 COSM727545 c.2365G>T p.V789L Substitution - Missense 3:101332780-101332780 - TCGA-EK-A3GJ-01 COSM4852381 c.2226C>G p.F742L Substitution - Missense 3:101337565-101337565 - TCGA-FW-A3R5-06 COSM3914408 c.350C>T p.P117L Substitution - Missense 3:101398990-101398990 - TCGA-BT-A2LD-01 COSM1308324 c.96A>G p.R32R Substitution - coding silent 3:101493963-101493963 - TCGA-CM-6678-01 COSM1417453 c.382G>A p.D128N Substitution - Missense 3:101398958-101398958 - TCGA-AN-A0FW-01 COSM1484371 c.2941C>T p.P981S Substitution - Missense 3:101327740-101327740 - TCGA-25-2398-01 COSM80502 c.2391C>T p.L797L Substitution - coding silent 3:101332094-101332094 - 0071_CRUK_PC_0071_T1_DNA COSM4420959 c.1573A>G p.T525A Substitution - Missense 3:101361765-101361765 - 3N45-VS-3T45 COSM4982409 c.633C>G p.L211L Substitution - coding silent 3:101367977-101367977 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.529542;Hs.529551 3q12 612846

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.677+8504T>G 3 101109201 CLL A C Synonymous p.S652S c.1956T>G 3 101062680 STAD - A Frameshift p.F551Ifs*7 c.1646dupT 3 101070473 HC A G Missense p.L135S c.404T>C 3 101136515 STAD A G Missense p.S910P c.2728T>C 3 101049201 PRAD A G SpliceDonorSNV . c.2357+2T>C 3 101058937 UCEC A T Missense p.D577E c.1731T>A 3 101066822 CM A T Missense p.W63R c.187T>A 3 101177896 STAD C A IntronicSNV . c.1623+3457G>T 3 101077102 DLBCL C A Missense p.L997F c.2991G>T 3 101046534 LUAD C A Missense p.V855L c.2563G>T 3 101051624 LUSC C A Nonsense p.E505* c.1513G>T 3 101080669 LUAD C A SpliceDonorSNV . c.2106+1G>T 3 101062529 LUSC C A Synonymous p.L716L c.2148G>T 3 101060582 RCCC C - Frameshift p.G227Afs*8 c.680delG 3 101090968 RCCC C G IntronicSNV . c.483-2467G>C 3 101120366 CLL C G Missense p.D782H c.2344G>C 3 101058952 CM C G Missense p.E768Q c.2302G>C 3 101058994 LUAD C G Missense p.L378F c.1134G>C 3 101085458 BLCA C G Missense p.R1030P c.3089G>C 3 101044851 CM C G Synonymous p.L555L c.1665G>C 3 101066888 CM C T Missense p.D915N c.2743G>A 3 101049186 CM C T Missense p.E413K c.1237G>A 3 101085355 BRCA C T Missense p.E734K c.2200G>A 3 101060530 CM C T Missense p.E796K c.2386G>A 3 101056447 LUAD C T Missense p.G758E c.2273G>A 3 101059023 CM C T Missense p.R1023H c.3068G>A 3 101044872 STAD C T Missense p.R111Q c.332G>A 3 101136587 GBM C T Nonsense p.W591* c.1773G>A 3 101066780 COREAD G A IntronicSNV . c.1623+3272C>T 3 101077287 CM G A IntronicSNV . c.1623+4291C>T 3 101076268 CM G A IntronicSNV . c.483-5853C>T 3 101123752 PIA G A Missense p.P1022S c.3064C>T 3 101044876 CM G A Missense p.P662S c.1984C>T 3 101062652 CM G A Missense p.P824S c.2470C>T 3 101056363 CM G A Missense p.P880S c.2638C>T 3 101050889 CM G A Missense p.P981S c.2941C>T 3 101046584 BRCA G A Missense p.S615F c.1844C>T 3 101062792 CM G A Missense p.S704L c.2111C>T 3 101060619 LUAD G A Missense p.S827L c.2480C>T 3 101056353 CM G A Missense p.S827L c.2480C>T 3 101056353 UCEC G A Missense p.T564I c.1691C>T 3 101066862 STAD G A Nonsense p.R111* c.331C>T 3 101136588 AML G A Nonsense p.R954* c.2860C>T 3 101047326 BRCA G A Nonsense p.R954* c.2860C>T 3 101047326 COREAD G A Synonymous p.L117L c.349C>T 3 101136570 CM G A Synonymous p.L59L c.177C>T 3 101212726 CM G A Synonymous p.L6L c.18C>T 3 101231957 CM G A Synonymous p.L863L c.2589C>T 3 101050938 OV G C Missense p.Q213E c.637C>G 3 101117745 LUSC G C Missense p.R111G c.331C>G 3 101136588 BRCA G C Nonsense p.S704* c.2111C>G 3 101060619 BLCA G C Synonymous p.P703P c.2109C>G 3 101060621 BRCA G T Missense p.A687D c.2060C>A 3 101062576 COREAD G T Missense p.P1022T c.3064C>A 3 101044876 LUSC T A Nonsense p.K533* c.1597A>T 3 101080585 OV T A Synonymous p.L938L c.2814A>T 3 101047372 LUAD T C IntronicSNV . c.186+1384A>G 3 101211333 PIA T C IntronicSNV . c.2357+25A>G 3 101058914 STAD T C Missense p.D261G c.782A>G 3 101090866 CM T C Missense p.D895G c.2684A>G 3 101050843 LUAD T C Missense p.K964E c.2890A>G 3 101046635 GBM T C Missense p.R831G c.2491A>G 3 101051696 STAD T C Missense p.T326A c.976A>G 3 101086676 HNSC T C Missense p.T974A c.2920A>G 3 101046605 HC T C Missense p.Y596C c.1787A>G 3 101066766 HNSC T C Missense p.Y876C c.2627A>G 3 101050900 BRCA T C SpliceAcceptorSNV . c.2796-2A>G 3 101047392 PRAD T C Synonymous p.L368L c.1104A>G 3 101085488 STAD T C Synonymous p.L483L c.1449A>G 3 101083705 STAD T C Synonymous p.Q314Q c.942A>G 3 101086710 LUSC T C Synonymous p.R32R c.96A>G 3 101212807 BLCA T - Frameshift p.K545Nfs*11 c.1635delA 3 101070484 STAD T G Missense p.D517A c.1550A>C 3 101080632 GBM T G Missense p.K240Q c.718A>C 3 101090930 LUAD T G Missense p.K834N c.2502A>C 3 101051685 STAD T G Missense p.K90T c.269A>C 3 101177814 LGG T G Missense p.Q229P c.686A>C 3 101090962 THCA