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 4 144106956 144106956 + Missense_Mutation SNP C C A TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 g.chr4:144106956C>A c.353C>A c.(352-354)cCg>cAg p.P118Q BLCA 4 144107020 144107020 + Silent SNP G G A TCGA-XF-A9SJ-01A-11D-A391-08 TCGA-XF-A9SJ-10A-01D-A394-08 g.chr4:144107020G>A c.417G>A c.(415-417)ccG>ccA p.P139P BLCA 4 144107121 144107121 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr4:144107121G>A c.518G>A c.(517-519)cGa>cAa p.R173Q BLCA 4 144109040 144109040 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr4:144109040G>C c.744G>C c.(742-744)atG>atC p.M248I BLCA 4 144124645 144124645 + Nonsense_Mutation SNP G G T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr4:144124645G>T c.1135G>T c.(1135-1137)Gaa>Taa p.E379* BLCA 4 144127185 144127185 + Splice_Site SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 g.chr4:144127185G>A c.e6-1 BLCA 4 144134859 144134859 + Missense_Mutation SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 g.chr4:144134859G>A c.1730G>A c.(1729-1731)cGt>cAt p.R577H BLCA 4 144134960 144134960 + Nonsense_Mutation SNP G G T TCGA-GD-A76B-01A-11D-A32B-08 TCGA-GD-A76B-10A-01D-A329-08 g.chr4:144134960G>T c.1831G>T c.(1831-1833)Gaa>Taa p.E611* BLCA 4 144135055 144135055 + Missense_Mutation SNP T T G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 g.chr4:144135055T>G c.1926T>G c.(1924-1926)gaT>gaG p.D642E BLCA 4 144135447 144135447 + Missense_Mutation SNP A A C TCGA-YF-AA3L-01A-11D-A38G-08 TCGA-YF-AA3L-10A-01D-A38J-08 g.chr4:144135447A>C c.2318A>C c.(2317-2319)aAg>aCg p.K773T BRCA 4 144106826 144106826 + Nonsense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr4:144106826G>T c.223G>T c.(223-225)Gag>Tag p.E75* BRCA 4 144116875 144116875 + Missense_Mutation SNP T T G TCGA-BH-A0GY-01A-11W-A071-09 TCGA-BH-A0GY-10A-01W-A071-09 g.chr4:144116875T>G c.825T>G c.(823-825)atT>atG p.I275M BRCA 4 144119005 144119005 + Silent SNP G G A TCGA-AR-A0TX-01A-11D-A099-09 TCGA-AR-A0TX-10A-01D-A099-09 g.chr4:144119005G>A c.978G>A c.(976-978)gtG>gtA p.V326V CESC 4 144106718 144106718 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr4:144106718G>C c.115G>C c.(115-117)Gag>Cag p.E39Q CESC 4 144106889 144106889 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 g.chr4:144106889C>G c.286C>G c.(286-288)Ctg>Gtg p.L96V COAD 4 144106839 144106839 + Missense_Mutation SNP T T C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr4:144106839T>C c.236T>C c.(235-237)tTc>tCc p.F79S COAD 4 144107006 144107006 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr4:144107006G>A c.403G>A c.(403-405)Gtg>Atg p.V135M COAD 4 144116912 144116912 + Missense_Mutation SNP A A G TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr4:144116912A>G c.862A>G c.(862-864)Aca>Gca p.T288A COAD 4 144119057 144119057 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:144119057T>C c.1030T>C c.(1030-1032)Tct>Cct p.S344P COAD 4 144130726 144130726 + Silent SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:144130726A>G c.1413A>G c.(1411-1413)agA>agG p.R471R COAD 4 144133576 144133576 + Splice_Site SNP A A G TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr4:144133576A>G c.1603A>G c.(1603-1605)Agg>Ggg p.R535G COAD 4 144134767 144134767 + Silent SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr4:144134767G>A c.1638G>A c.(1636-1638)caG>caA p.Q546Q COAD 4 144134773 144134773 + Silent SNP A A G TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr4:144134773A>G c.1644A>G c.(1642-1644)tcA>tcG p.S548S COAD 4 144135040 144135040 + Silent SNP A A G TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr4:144135040A>G c.1911A>G c.(1909-1911)tcA>tcG p.S637S COAD 4 144135083 144135083 + Missense_Mutation SNP G G A TCGA-A6-2683-01A-01W-0831-10 TCGA-A6-2683-10A-01W-0831-10 g.chr4:144135083G>A c.1954G>A c.(1954-1956)Ggt>Agt p.G652S COAD 4 144135300 144135300 + Missense_Mutation SNP A A G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr4:144135300A>G c.2171A>G c.(2170-2172)tAt>tGt p.Y724C COAD 4 144135593 144135593 + Frame_Shift_Del DEL A A - TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr4:144135593delA c.2464delA c.(2464-2466)aaafs p.K823fs COAD 4 144135650 144135650 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:144135650C>T c.2521C>T c.(2521-2523)Cta>Tta p.L841L COAD 4 144135694 144135694 + Missense_Mutation SNP T T G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr4:144135694T>G c.2565T>G c.(2563-2565)agT>agG p.S855R COAD 4 144135702 144135702 + Missense_Mutation SNP A A T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr4:144135702A>T c.2573A>T c.(2572-2574)tAc>tTc p.Y858F COAD 4 144135703 144135703 + Silent SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr4:144135703C>T c.2574C>T c.(2572-2574)taC>taT p.Y858Y COAD 4 144135718 144135718 + Silent SNP G G A TCGA-A6-6654-01A-21D-1835-10 TCGA-A6-6654-10A-01D-1835-10 g.chr4:144135718G>A c.2589G>A c.(2587-2589)agG>agA p.R863R COAD 4 144135911 144135911 + Missense_Mutation SNP T T A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr4:144135911T>A c.2782T>A c.(2782-2784)Tca>Aca p.S928T COAD 4 144135945 144135945 + Missense_Mutation SNP A A G TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr4:144135945A>G c.2816A>G c.(2815-2817)gAc>gGc p.D939G COAD 4 144135945 144135945 + Missense_Mutation SNP A A G TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr4:144135945A>G c.2816A>G c.(2815-2817)gAc>gGc p.D939G COAD 4 144135984 144135984 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr4:144135984C>T c.2855C>T c.(2854-2856)aCt>aTt p.T952I COADREAD 4 144106839 144106839 + Missense_Mutation SNP T T C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr4:144106839T>C c.236T>C c.(235-237)tTc>tCc p.F79S COADREAD 4 144107006 144107006 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr4:144107006G>A c.403G>A c.(403-405)Gtg>Atg p.V135M COADREAD 4 144116912 144116912 + Missense_Mutation SNP A A G TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr4:144116912A>G c.862A>G c.(862-864)Aca>Gca p.T288A COADREAD 4 144119057 144119057 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:144119057T>C c.1030T>C c.(1030-1032)Tct>Cct p.S344P COADREAD 4 144119068 144119068 + Silent SNP G G A TCGA-AG-3600-01A-01W-0833-10 TCGA-AG-3600-10A-01W-0833-10 g.chr4:144119068G>A c.1041G>A c.(1039-1041)gcG>gcA p.A347A COADREAD 4 144130726 144130726 + Silent SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:144130726A>G c.1413A>G c.(1411-1413)agA>agG p.R471R COADREAD 4 144133576 144133576 + Splice_Site SNP A A G TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr4:144133576A>G c.1603A>G c.(1603-1605)Agg>Ggg p.R535G COADREAD 4 144134767 144134767 + Silent SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr4:144134767G>A c.1638G>A c.(1636-1638)caG>caA p.Q546Q COADREAD 4 144134773 144134773 + Silent SNP A A G TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr4:144134773A>G c.1644A>G c.(1642-1644)tcA>tcG p.S548S COADREAD 4 144135040 144135040 + Silent SNP A A G TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr4:144135040A>G c.1911A>G c.(1909-1911)tcA>tcG p.S637S COADREAD 4 144135083 144135083 + Missense_Mutation SNP G G A TCGA-A6-2683-01A-01W-0831-10 TCGA-A6-2683-10A-01W-0831-10 g.chr4:144135083G>A c.1954G>A c.(1954-1956)Ggt>Agt p.G652S COADREAD 4 144135300 144135300 + Missense_Mutation SNP A A G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr4:144135300A>G c.2171A>G c.(2170-2172)tAt>tGt p.Y724C COADREAD 4 144135593 144135593 + Frame_Shift_Del DEL A A - TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr4:144135593delA c.2464delA c.(2464-2466)aaafs p.K823fs COADREAD 4 144135650 144135650 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:144135650C>T c.2521C>T c.(2521-2523)Cta>Tta p.L841L COADREAD 4 144135694 144135694 + Missense_Mutation SNP T T G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr4:144135694T>G c.2565T>G c.(2563-2565)agT>agG p.S855R COADREAD 4 144135702 144135702 + Missense_Mutation SNP A A T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr4:144135702A>T c.2573A>T c.(2572-2574)tAc>tTc p.Y858F COADREAD 4 144135703 144135703 + Silent SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr4:144135703C>T c.2574C>T c.(2572-2574)taC>taT p.Y858Y COADREAD 4 144135718 144135718 + Silent SNP G G A TCGA-A6-6654-01A-21D-1835-10 TCGA-A6-6654-10A-01D-1835-10 g.chr4:144135718G>A c.2589G>A c.(2587-2589)agG>agA p.R863R COADREAD 4 144135911 144135911 + Missense_Mutation SNP T T A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr4:144135911T>A c.2782T>A c.(2782-2784)Tca>Aca p.S928T COADREAD 4 144135945 144135945 + Missense_Mutation SNP A A G TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr4:144135945A>G c.2816A>G c.(2815-2817)gAc>gGc p.D939G COADREAD 4 144135945 144135945 + Missense_Mutation SNP A A G TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr4:144135945A>G c.2816A>G c.(2815-2817)gAc>gGc p.D939G COADREAD 4 144135946 144135946 + Silent SNP C C T TCGA-DC-5337-01A-01D-1657-10 TCGA-DC-5337-10A-01D-1657-10 g.chr4:144135946C>T c.2817C>T c.(2815-2817)gaC>gaT p.D939D COADREAD 4 144135984 144135984 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr4:144135984C>T c.2855C>T c.(2854-2856)aCt>aTt p.T952I ESCA 4 144106812 144106812 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 g.chr4:144106812G>T c.209G>T c.(208-210)cGa>cTa p.R70L ESCA 4 144107006 144107006 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 g.chr4:144107006G>A c.403G>A c.(403-405)Gtg>Atg p.V135M ESCA 4 144134913 144134913 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 g.chr4:144134913G>A c.1784G>A c.(1783-1785)cGa>cAa p.R595Q GBM 4 144141519 144141519 + Silent SNP A A T TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 g.chr4:144141519A>T c.3039A>T c.(3037-3039)ggA>ggT p.G1013G GBMLGG 4 144135159 144135159 + Missense_Mutation SNP C C A TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 g.chr4:144135159C>A c.2030C>A c.(2029-2031)aCc>aAc p.T677N GBMLGG 4 144141519 144141519 + Silent SNP A A T TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 g.chr4:144141519A>T c.3039A>T c.(3037-3039)ggA>ggT p.G1013G HNSC 4 144106718 144106718 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 g.chr4:144106718G>A c.115G>A c.(115-117)Gag>Aag p.E39K HNSC 4 144106780 144106780 + Frame_Shift_Del DEL G G - TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 g.chr4:144106780delG c.177delG c.(175-177)cagfs p.Q59fs HNSC 4 144135059 144135059 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 g.chr4:144135059G>T c.1930G>T c.(1930-1932)Ggt>Tgt p.G644C HNSC 4 144135671 144135671 + Missense_Mutation SNP C C T TCGA-CV-5978-01A-11D-1683-08 TCGA-CV-5978-11A-01D-1683-08 g.chr4:144135671C>T c.2542C>T c.(2542-2544)Cac>Tac p.H848Y HNSC 4 144135764 144135764 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 g.chr4:144135764G>C c.2635G>C c.(2635-2637)Gag>Cag p.E879Q KIPAN 4 144106648 144106648 + Silent SNP G G A TCGA-B0-5695-01A-11D-1534-10 TCGA-B0-5695-11A-01D-1534-10 g.chr4:144106648G>A c.45G>A c.(43-45)ctG>ctA p.L15L KIPAN 4 144141548 144141548 + Missense_Mutation SNP G G C TCGA-BQ-7061-01A-11D-1961-08 TCGA-BQ-7061-11A-01D-1961-08 g.chr4:144141548G>C c.3068G>C c.(3067-3069)tGt>tCt p.C1023S KIRC 4 144106648 144106648 + Silent SNP G G A TCGA-B0-5695-01A-11D-1534-10 TCGA-B0-5695-11A-01D-1534-10 g.chr4:144106648G>A c.45G>A c.(43-45)ctG>ctA p.L15L KIRP 4 144141548 144141548 + Missense_Mutation SNP G G C TCGA-BQ-7061-01A-11D-1961-08 TCGA-BQ-7061-11A-01D-1961-08 g.chr4:144141548G>C c.3068G>C c.(3067-3069)tGt>tCt p.C1023S LGG 4 144135159 144135159 + Missense_Mutation SNP C C A TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 g.chr4:144135159C>A c.2030C>A c.(2029-2031)aCc>aAc p.T677N LIHC 4 144107245 144107245 + Silent SNP G G A TCGA-DD-A1E9-01A-21D-A152-10 TCGA-DD-A1E9-11A-11D-A152-10 g.chr4:144107245G>A c.642G>A c.(640-642)ctG>ctA p.L214L LIHC 4 144109051 144109051 + Missense_Mutation SNP T T C TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr4:144109051T>C c.755T>C c.(754-756)cTc>cCc p.L252P LIHC 4 144133531 144133531 + Nonsense_Mutation SNP A A T TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr4:144133531A>T c.1558A>T c.(1558-1560)Aga>Tga p.R520* LIHC 4 144134995 144134995 + Silent SNP T T C TCGA-DD-A4NA-01A-11D-A25V-10 TCGA-DD-A4NA-11A-11D-A25V-10 g.chr4:144134995T>C c.1866T>C c.(1864-1866)ccT>ccC p.P622P LIHC 4 144135131 144135131 + Missense_Mutation SNP A A G TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr4:144135131A>G c.2002A>G c.(2002-2004)Atc>Gtc p.I668V LIHC 4 144135474 144135474 + Missense_Mutation SNP A A G TCGA-XR-A8TD-01A-12D-A38X-10 TCGA-XR-A8TD-10A-01D-A38X-10 g.chr4:144135474A>G c.2345A>G c.(2344-2346)gAc>gGc p.D782G LIHC 4 144135539 144135539 + Missense_Mutation SNP T T C TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr4:144135539T>C c.2410T>C c.(2410-2412)Tca>Cca p.S804P LIHC 4 144135649 144135649 + Silent SNP T T C TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr4:144135649T>C c.2520T>C c.(2518-2520)taT>taC p.Y840Y LIHC 4 144135683 144135683 + Missense_Mutation SNP T T C TCGA-G3-A3CH-01A-11D-A22F-10 TCGA-G3-A3CH-11A-11D-A22F-10 g.chr4:144135683T>C c.2554T>C c.(2554-2556)Tcc>Ccc p.S852P LIHC 4 144135888 144135888 + Missense_Mutation SNP G G T TCGA-G3-A3CH-01A-11D-A22F-10 TCGA-G3-A3CH-11A-11D-A22F-10 g.chr4:144135888G>T c.2759G>T c.(2758-2760)aGa>aTa p.R920I LIHC 4 144135967 144135968 + Frame_Shift_Ins INS - - A TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr4:144135967_144135968insA c.2838_2839insA c.(2839-2841)aaafs p.K947fs LUAD 4 144106691 144106691 + Nonsense_Mutation SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 g.chr4:144106691G>T c.88G>T c.(88-90)Gag>Tag p.E30* LUAD 4 144107144 144107144 + Missense_Mutation SNP G G T TCGA-69-8255-01A-11D-2284-08 TCGA-69-8255-10A-01D-2284-08 g.chr4:144107144G>T c.541G>T c.(541-543)Gtg>Ttg p.V181L LUAD 4 144109082 144109082 + Silent SNP A A G TCGA-69-8255-01A-11D-2284-08 TCGA-69-8255-10A-01D-2284-08 g.chr4:144109082A>G c.786A>G c.(784-786)gtA>gtG p.V262V LUAD 4 144109089 144109089 + Missense_Mutation SNP G G T TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 g.chr4:144109089G>T c.793G>T c.(793-795)Gca>Tca p.A265S LUAD 4 144109090 144109090 + Missense_Mutation SNP C C T TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 g.chr4:144109090C>T c.794C>T c.(793-795)gCa>gTa p.A265V LUAD 4 144116948 144116948 + Missense_Mutation SNP G G T TCGA-35-4122-01A-01D-1105-08 TCGA-35-4122-10A-01D-1105-08 g.chr4:144116948G>T c.898G>T c.(898-900)Gtc>Ttc p.V300F LUAD 4 144118998 144118998 + Missense_Mutation SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 g.chr4:144118998C>T c.971C>T c.(970-972)cCt>cTt p.P324L LUAD 4 144124648 144124648 + Silent SNP T T C TCGA-44-6776-01A-11D-1855-08 TCGA-44-6776-10A-01D-1855-08 g.chr4:144124648T>C c.1138T>C c.(1138-1140)Ttg>Ctg p.L380L LUAD 4 144135082 144135082 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chr4:144135082C>G c.1953C>G c.(1951-1953)ccC>ccG p.P651P LUAD 4 144135557 144135557 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr4:144135557G>T c.2428G>T c.(2428-2430)Gat>Tat p.D810Y LUAD 4 144135716 144135716 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 g.chr4:144135716A>T c.2587A>T c.(2587-2589)Agg>Tgg p.R863W LUAD 4 144141531 144141531 + Silent SNP C C T TCGA-69-7974-01A-11D-2184-08 TCGA-69-7974-10A-01D-2184-08 g.chr4:144141531C>T c.3051C>T c.(3049-3051)aaC>aaT p.N1017N LUSC 4 144109067 144109067 + Silent SNP T T C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 g.chr4:144109067T>C c.771T>C c.(769-771)acT>acC p.T257T LUSC 4 144135239 144135239 + Missense_Mutation SNP A A G TCGA-60-2713-01A-01D-1522-08 TCGA-60-2713-11A-01D-1522-08 g.chr4:144135239A>G c.2110A>G c.(2110-2112)Aaa>Gaa p.K704E OV 4 144135702 144135702 + Missense_Mutation SNP A A G TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 g.chr4:144135702A>G c.2573A>G c.(2572-2574)tAc>tGc p.Y858C PAAD 4 144141476 144141476 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:144141476C>T c.2996C>T c.(2995-2997)gCc>gTc p.A999V PRAD 4 144133502 144133502 + Missense_Mutation SNP A A G TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 g.chr4:144133502A>G c.1529A>G c.(1528-1530)gAg>gGg p.E510G PRAD 4 144136036 144136036 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr4:144136036C>T c.2907C>T c.(2905-2907)gaC>gaT p.D969D READ 4 144119068 144119068 + Silent SNP G G A TCGA-AG-3600-01A-01W-0833-10 TCGA-AG-3600-10A-01W-0833-10 g.chr4:144119068G>A c.1041G>A c.(1039-1041)gcG>gcA p.A347A READ 4 144135946 144135946 + Silent SNP C C T TCGA-DC-5337-01A-01D-1657-10 TCGA-DC-5337-10A-01D-1657-10 g.chr4:144135946C>T c.2817C>T c.(2815-2817)gaC>gaT p.D939D SARC 4 144107117 144107117 + Missense_Mutation SNP G G C TCGA-FX-A76Y-01A-11D-A351-09 TCGA-FX-A76Y-10A-01D-A351-09 g.chr4:144107117G>C c.514G>C c.(514-516)Gtt>Ctt p.V172L SKCM 4 144124642 144124642 + Missense_Mutation SNP A A C TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 g.chr4:144124642A>C c.1132A>C c.(1132-1134)Aca>Cca p.T378P SKCM 4 144133488 144133488 + Silent SNP T T A TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr4:144133488T>A c.1515T>A c.(1513-1515)ccT>ccA p.P505P SKCM 4 144133528 144133528 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:144133528C>T c.1555C>T c.(1555-1557)Ccc>Tcc p.P519S SKCM 4 144135130 144135130 + Silent SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr4:144135130C>T c.2001C>T c.(1999-2001)ttC>ttT p.F667F SKCM 4 144135968 144135968 + Nonsense_Mutation SNP A A T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 g.chr4:144135968A>T c.2839A>T c.(2839-2841)Aaa>Taa p.K947*

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 4 144106612 144106612 single base substitution G C missense_variant K3N 9G>C BLCA-CN 4 144106612 144106612 single base substitution G C upstream_gene_variant BLCA-CN 4 144107007 144107007 single base substitution T G exon_variant BLCA-CN 4 144107007 144107007 single base substitution T G missense_variant V135G 404T>G BLCA-CN 4 144107026 144107026 single base substitution G A exon_variant BLCA-CN 4 144107026 144107026 single base substitution G A synonymous_variant P141P 423G>A BLCA-CN 4 144119043 144119043 single base substitution T C exon_variant BLCA-CN 4 144119043 144119043 single base substitution T C missense_variant L339P 1016T>C BLCA-CN 4 144135332 144135332 single base substitution A G 3_prime_UTR_variant BLCA-CN 4 144135332 144135332 single base substitution A G missense_variant N735D 2203A>G BLCA-US 4 144107121 144107121 single base substitution G A exon_variant BLCA-US 4 144107121 144107121 single base substitution G A missense_variant R173Q 518G>A BLCA-US 4 144109040 144109040 single base substitution G C exon_variant BLCA-US 4 144109040 144109040 single base substitution G C missense_variant M248I 744G>C BLCA-US 4 144127185 144127185 single base substitution G A splice_acceptor_variant BLCA-US 4 144134859 144134859 single base substitution G A 3_prime_UTR_variant BLCA-US 4 144134859 144134859 single base substitution G A missense_variant R577H 1730G>A BLCA-US 4 144135055 144135055 single base substitution T G 3_prime_UTR_variant BLCA-US 4 144135055 144135055 single base substitution T G missense_variant D642E 1926T>G BOCA-FR 4 144113036 144113036 single base substitution T C intron_variant BOCA-FR 4 144123366 144123366 single base substitution A C intron_variant BRCA-EU 4 144101654 144101654 single base substitution C G upstream_gene_variant BRCA-EU 4 144101727 144101727 single base substitution C G upstream_gene_variant BRCA-EU 4 144103435 144103435 single base substitution G A upstream_gene_variant BRCA-EU 4 144103835 144103835 single base substitution T A upstream_gene_variant BRCA-EU 4 144105821 144105821 single base substitution G A upstream_gene_variant BRCA-EU 4 144105927 144105927 single base substitution C A upstream_gene_variant BRCA-EU 4 144105970 144105970 single base substitution G C upstream_gene_variant BRCA-EU 4 144106152 144106152 single base substitution A G 5_prime_UTR_variant BRCA-EU 4 144106152 144106152 single base substitution A G upstream_gene_variant BRCA-EU 4 144107989 144107989 single base substitution G A intron_variant BRCA-EU 4 144108241 144108241 insertion of <=200bp - T intron_variant BRCA-EU 4 144109182 144109182 single base substitution G A intron_variant BRCA-EU 4 144109441 144109441 deletion of <=200bp T - intron_variant BRCA-EU 4 144110252 144110252 single base substitution A G intron_variant BRCA-EU 4 144112104 144112104 deletion of <=200bp T - intron_variant BRCA-EU 4 144112840 144112840 single base substitution G A intron_variant BRCA-EU 4 144112854 144112854 single base substitution G A intron_variant BRCA-EU 4 144114398 144114398 single base substitution T C intron_variant BRCA-EU 4 144115191 144115191 single base substitution G A intron_variant BRCA-EU 4 144115381 144115381 single base substitution G C intron_variant BRCA-EU 4 144116146 144116147 deletion of <=200bp TT - intron_variant BRCA-EU 4 144116318 144116318 single base substitution A C intron_variant BRCA-EU 4 144116586 144116586 single base substitution A T intron_variant BRCA-EU 4 144118473 144118473 single base substitution G T intron_variant BRCA-EU 4 144119700 144119700 single base substitution G A intron_variant BRCA-EU 4 144120557 144120557 single base substitution A T intron_variant BRCA-EU 4 144120728 144120728 single base substitution T C intron_variant BRCA-EU 4 144120773 144120773 deletion of <=200bp T - intron_variant BRCA-EU 4 144120773 144120773 insertion of <=200bp - T intron_variant BRCA-EU 4 144124216 144124216 deletion of <=200bp T - intron_variant BRCA-EU 4 144125131 144125131 single base substitution T C intron_variant BRCA-EU 4 144126542 144126542 single base substitution G C intron_variant BRCA-EU 4 144127939 144127939 single base substitution A G intron_variant BRCA-EU 4 144128706 144128706 single base substitution G A intron_variant BRCA-EU 4 144129433 144129433 single base substitution T G intron_variant BRCA-EU 4 144129838 144129838 single base substitution A G intron_variant BRCA-EU 4 144130093 144130093 single base substitution C A intron_variant BRCA-EU 4 144130759 144130759 single base substitution T A 3_prime_UTR_variant BRCA-EU 4 144130759 144130759 single base substitution T A missense_variant N482K 1446T>A BRCA-EU 4 144131056 144131056 single base substitution C G intron_variant BRCA-EU 4 144131849 144131849 single base substitution G T intron_variant BRCA-EU 4 144132358 144132358 single base substitution T G intron_variant BRCA-EU 4 144133880 144133880 single base substitution C G intron_variant BRCA-EU 4 144134213 144134213 single base substitution G C intron_variant BRCA-EU 4 144135477 144135477 single base substitution A C 3_prime_UTR_variant BRCA-EU 4 144135477 144135477 single base substitution A C missense_variant N783T 2348A>C BRCA-EU 4 144136052 144136052 single base substitution G C 3_prime_UTR_variant BRCA-EU 4 144136052 144136052 single base substitution G C missense_variant E975Q 2923G>C BRCA-EU 4 144136900 144136900 single base substitution G A downstream_gene_variant BRCA-EU 4 144136900 144136900 single base substitution G A intron_variant BRCA-EU 4 144137216 144137216 insertion of <=200bp - A downstream_gene_variant BRCA-EU 4 144137216 144137216 insertion of <=200bp - A intron_variant BRCA-EU 4 144138130 144138130 deletion of <=200bp T - downstream_gene_variant BRCA-EU 4 144138130 144138130 deletion of <=200bp T - intron_variant BRCA-EU 4 144139211 144139211 single base substitution C A downstream_gene_variant BRCA-EU 4 144139211 144139211 single base substitution C A intron_variant BRCA-EU 4 144140014 144140014 single base substitution A G downstream_gene_variant BRCA-EU 4 144140014 144140014 single base substitution A G intron_variant BRCA-EU 4 144142717 144142717 single base substitution A T 3_prime_UTR_variant BRCA-EU 4 144143525 144143525 single base substitution T C 3_prime_UTR_variant BRCA-EU 4 144144367 144144367 single base substitution G C 3_prime_UTR_variant BRCA-EU 4 144145654 144145654 single base substitution G T downstream_gene_variant BRCA-EU 4 144149104 144149104 single base substitution T C downstream_gene_variant BRCA-EU 4 144149154 144149154 single base substitution G T downstream_gene_variant BRCA-FR 4 144112840 144112840 single base substitution G A intron_variant BRCA-FR 4 144115191 144115191 single base substitution G A intron_variant BRCA-FR 4 144115381 144115381 single base substitution G C intron_variant BRCA-FR 4 144115535 144115535 single base substitution G A intron_variant BRCA-FR 4 144126542 144126542 single base substitution G C intron_variant BRCA-FR 4 144136900 144136900 single base substitution G A downstream_gene_variant BRCA-FR 4 144136900 144136900 single base substitution G A intron_variant BRCA-FR 4 144139553 144139553 single base substitution C A downstream_gene_variant BRCA-FR 4 144139553 144139553 single base substitution C A intron_variant BRCA-FR 4 144139554 144139554 single base substitution A T downstream_gene_variant BRCA-FR 4 144139554 144139554 single base substitution A T intron_variant BRCA-UK 4 144103435 144103435 single base substitution G A upstream_gene_variant BRCA-UK 4 144127249 144127249 single base substitution C A 3_prime_UTR_variant BRCA-UK 4 144127249 144127249 single base substitution C A missense_variant Q425K 1273C>A BRCA-US 4 144106826 144106826 single base substitution G T stop_gained E75* 223G>T BRCA-US 4 144106826 144106826 single base substitution G T upstream_gene_variant BRCA-US 4 144116875 144116875 single base substitution T G exon_variant BRCA-US 4 144116875 144116875 single base substitution T G missense_variant I275M 825T>G BRCA-US 4 144119005 144119005 single base substitution G A exon_variant BRCA-US 4 144119005 144119005 single base substitution G A synonymous_variant V326V 978G>A BTCA-JP 4 144108896 144108896 deletion of <=200bp T - intron_variant BTCA-JP 4 144136044 144136044 single base substitution T C 3_prime_UTR_variant BTCA-JP 4 144136044 144136044 single base substitution T C missense_variant L972P 2915T>C CESC-US 4 144106718 144106718 single base substitution G C missense_variant E39Q 115G>C CESC-US 4 144106718 144106718 single base substitution G C upstream_gene_variant CESC-US 4 144106889 144106889 single base substitution C G exon_variant CESC-US 4 144106889 144106889 single base substitution C G missense_variant L96V 286C>G CLLE-ES 4 144125281 144125281 single base substitution C T intron_variant CLLE-ES 4 144129557 144129557 single base substitution T G intron_variant CLLE-ES 4 144141961 144141961 single base substitution T A 3_prime_UTR_variant COAD-US 4 144106839 144106839 single base substitution T C missense_variant F79S 236T>C COAD-US 4 144106839 144106839 single base substitution T C upstream_gene_variant COAD-US 4 144107006 144107006 single base substitution G A exon_variant COAD-US 4 144107006 144107006 single base substitution G A missense_variant V135M 403G>A COAD-US 4 144119057 144119057 single base substitution T C exon_variant COAD-US 4 144119057 144119057 single base substitution T C missense_variant S344P 1030T>C COAD-US 4 144135593 144135593 deletion of <=200bp A - 3_prime_UTR_variant COAD-US 4 144135593 144135593 deletion of <=200bp A - frameshift_variant K822 COAD-US 4 144135694 144135694 single base substitution T G 3_prime_UTR_variant COAD-US 4 144135694 144135694 single base substitution T G missense_variant S855R 2565T>G COAD-US 4 144135718 144135718 single base substitution G A 3_prime_UTR_variant COAD-US 4 144135718 144135718 single base substitution G A synonymous_variant R863R 2589G>A COAD-US 4 144135911 144135911 single base substitution T A 3_prime_UTR_variant COAD-US 4 144135911 144135911 single base substitution T A missense_variant S928T 2782T>A COAD-US 4 144141509 144141509 single base substitution G A 3_prime_UTR_variant COAD-US 4 144141509 144141509 single base substitution G A downstream_gene_variant COAD-US 4 144141509 144141509 single base substitution G A missense_variant R1010Q 3029G>A COCA-CN 4 144107225 144107225 single base substitution G A exon_variant COCA-CN 4 144107225 144107225 single base substitution G A missense_variant A208T 622G>A COCA-CN 4 144124492 144124492 single base substitution G A intron_variant COCA-CN 4 144132672 144132672 single base substitution T C intron_variant COCA-CN 4 144135215 144135215 single base substitution G T 3_prime_UTR_variant COCA-CN 4 144135215 144135215 single base substitution G T stop_gained E696* 2086G>T COCA-CN 4 144135453 144135453 single base substitution A G 3_prime_UTR_variant COCA-CN 4 144135453 144135453 single base substitution A G missense_variant H775R 2324A>G COCA-CN 4 144135763 144135763 single base substitution T C 3_prime_UTR_variant COCA-CN 4 144135763 144135763 single base substitution T C synonymous_variant S878S 2634T>C COCA-CN 4 144141508 144141508 single base substitution C T 3_prime_UTR_variant COCA-CN 4 144141508 144141508 single base substitution C T downstream_gene_variant COCA-CN 4 144141508 144141508 single base substitution C T missense_variant R1010W 3028C>T EOPC-DE 4 144142209 144142209 single base substitution A G 3_prime_UTR_variant ESAD-UK 4 144104966 144104966 single base substitution C G upstream_gene_variant ESAD-UK 4 144105030 144105030 single base substitution A C upstream_gene_variant ESAD-UK 4 144108613 144108613 single base substitution A G intron_variant ESAD-UK 4 144109140 144109140 single base substitution G A intron_variant ESAD-UK 4 144113173 144113174 deletion of <=200bp AT - intron_variant ESAD-UK 4 144114519 144114519 single base substitution A G intron_variant ESAD-UK 4 144114593 144114593 single base substitution G C intron_variant ESAD-UK 4 144126568 144126568 single base substitution C G intron_variant ESAD-UK 4 144126810 144126810 single base substitution G A intron_variant ESAD-UK 4 144127118 144127118 single base substitution A G intron_variant ESAD-UK 4 144127671 144127671 single base substitution C A intron_variant ESAD-UK 4 144128242 144128242 single base substitution A C intron_variant ESAD-UK 4 144129549 144129549 single base substitution G A intron_variant ESAD-UK 4 144129944 144129944 single base substitution C A intron_variant ESAD-UK 4 144133054 144133054 single base substitution G A intron_variant ESAD-UK 4 144133762 144133762 single base substitution C A intron_variant ESAD-UK 4 144136869 144136869 single base substitution C T downstream_gene_variant ESAD-UK 4 144136869 144136869 single base substitution C T intron_variant ESAD-UK 4 144137453 144137453 single base substitution G A downstream_gene_variant ESAD-UK 4 144137453 144137453 single base substitution G A intron_variant ESAD-UK 4 144137652 144137652 single base substitution G A downstream_gene_variant ESAD-UK 4 144137652 144137652 single base substitution G A intron_variant ESAD-UK 4 144139420 144139420 single base substitution A C downstream_gene_variant ESAD-UK 4 144139420 144139420 single base substitution A C intron_variant ESAD-UK 4 144141472 144141472 single base substitution C T 3_prime_UTR_variant ESAD-UK 4 144141472 144141472 single base substitution C T downstream_gene_variant ESAD-UK 4 144141472 144141472 single base substitution C T missense_variant R998W 2992C>T ESAD-UK 4 144144593 144144594 deletion of <=200bp AA - 3_prime_UTR_variant ESAD-UK 4 144144973 144144973 single base substitution G A 3_prime_UTR_variant ESAD-UK 4 144145012 144145012 single base substitution G C downstream_gene_variant ESAD-UK 4 144145363 144145363 single base substitution A T downstream_gene_variant ESAD-UK 4 144145789 144145789 single base substitution A C downstream_gene_variant ESCA-CN 4 144107121 144107121 single base substitution G T exon_variant ESCA-CN 4 144107121 144107121 single base substitution G T missense_variant R173L 518G>T GBM-US 4 144141519 144141519 single base substitution A T 3_prime_UTR_variant GBM-US 4 144141519 144141519 single base substitution A T downstream_gene_variant GBM-US 4 144141519 144141519 single base substitution A T synonymous_variant G1013G 3039A>T KIRC-US 4 144106648 144106648 single base substitution G A synonymous_variant L15L 45G>A KIRC-US 4 144106648 144106648 single base substitution G A upstream_gene_variant LAML-KR 4 144130145 144130145 single base substitution G T intron_variant LICA-FR 4 144107051 144107053 deletion of <=200bp CTT - exon_variant LICA-FR 4 144107051 144107053 deletion of <=200bp CTT - inframe_deletion L150 LICA-FR 4 144107085 144107085 single base substitution G A exon_variant LICA-FR 4 144107085 144107085 single base substitution G A missense_variant G161E 482G>A LICA-FR 4 144115229 144115229 single base substitution G A intron_variant LICA-FR 4 144133210 144133210 single base substitution A G intron_variant LIHC-US 4 144107245 144107245 single base substitution G A exon_variant LIHC-US 4 144107245 144107245 single base substitution G A synonymous_variant L214L 642G>A LIHC-US 4 144133531 144133531 single base substitution A T 3_prime_UTR_variant LIHC-US 4 144133531 144133531 single base substitution A T stop_gained R520* 1558A>T LIHC-US 4 144134995 144134995 single base substitution T C 3_prime_UTR_variant LIHC-US 4 144134995 144134995 single base substitution T C synonymous_variant P622P 1866T>C LIHC-US 4 144135683 144135683 single base substitution T C 3_prime_UTR_variant LIHC-US 4 144135683 144135683 single base substitution T C missense_variant S852P 2554T>C LIHC-US 4 144135888 144135888 single base substitution G T 3_prime_UTR_variant LIHC-US 4 144135888 144135888 single base substitution G T missense_variant R920I 2759G>T LINC-JP 4 144106048 144106048 single base substitution C T upstream_gene_variant LINC-JP 4 144106110 144106110 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant LINC-JP 4 144106110 144106110 single base substitution C G upstream_gene_variant LINC-JP 4 144119601 144119601 single base substitution G A intron_variant LINC-JP 4 144130988 144130988 single base substitution A T intron_variant LINC-JP 4 144130989 144130989 single base substitution T A intron_variant LINC-JP 4 144135169 144135169 single base substitution T G 3_prime_UTR_variant LINC-JP 4 144135169 144135169 single base substitution T G missense_variant S680R 2040T>G LINC-JP 4 144141686 144141686 single base substitution A G 3_prime_UTR_variant LINC-JP 4 144141686 144141686 single base substitution A G downstream_gene_variant LINC-JP 4 144141860 144141860 single base substitution A G 3_prime_UTR_variant LINC-JP 4 144143407 144143407 single base substitution T C 3_prime_UTR_variant LIRI-JP 4 144103906 144103906 single base substitution C T upstream_gene_variant LIRI-JP 4 144107128 144107128 single base substitution A G exon_variant LIRI-JP 4 144107128 144107128 single base substitution A G missense_variant I175M 525A>G LIRI-JP 4 144107894 144107894 single base substitution T G intron_variant LIRI-JP 4 144109550 144109550 single base substitution A G intron_variant LIRI-JP 4 144110338 144110338 single base substitution A G intron_variant LIRI-JP 4 144111967 144111967 single base substitution C T intron_variant LIRI-JP 4 144112189 144112189 single base substitution A G intron_variant LIRI-JP 4 144112967 144112967 insertion of <=200bp - A intron_variant LIRI-JP 4 144112975 144112975 single base substitution A T intron_variant LIRI-JP 4 144115855 144115855 single base substitution T A intron_variant LIRI-JP 4 144116117 144116117 deletion of <=200bp A - intron_variant LIRI-JP 4 144117693 144117693 single base substitution T G intron_variant LIRI-JP 4 144120989 144120989 single base substitution T A intron_variant LIRI-JP 4 144121166 144121166 single base substitution C T intron_variant LIRI-JP 4 144122516 144122516 single base substitution A G intron_variant LIRI-JP 4 144123566 144123566 single base substitution A G intron_variant LIRI-JP 4 144124323 144124323 single base substitution G T intron_variant LIRI-JP 4 144124399 144124399 single base substitution T C intron_variant LIRI-JP 4 144124889 144124889 single base substitution A G intron_variant LIRI-JP 4 144124910 144124910 insertion of <=200bp - T intron_variant LIRI-JP 4 144126563 144126563 single base substitution G T intron_variant LIRI-JP 4 144131855 144131855 single base substitution A G intron_variant LIRI-JP 4 144134219 144134219 single base substitution C T intron_variant LIRI-JP 4 144137620 144137620 single base substitution A G downstream_gene_variant LIRI-JP 4 144137620 144137620 single base substitution A G intron_variant LIRI-JP 4 144138001 144138001 single base substitution T C downstream_gene_variant LIRI-JP 4 144138001 144138001 single base substitution T C intron_variant LIRI-JP 4 144138720 144138720 single base substitution T G downstream_gene_variant LIRI-JP 4 144138720 144138720 single base substitution T G intron_variant LIRI-JP 4 144139340 144139340 single base substitution G T downstream_gene_variant LIRI-JP 4 144139340 144139340 single base substitution G T intron_variant LIRI-JP 4 144143339 144143339 single base substitution A G 3_prime_UTR_variant LIRI-JP 4 144143486 144143486 single base substitution C A 3_prime_UTR_variant LIRI-JP 4 144145955 144145955 single base substitution T A downstream_gene_variant LIRI-JP 4 144147158 144147158 single base substitution T G downstream_gene_variant LIRI-JP 4 144148320 144148320 single base substitution G T downstream_gene_variant LIRI-JP 4 144148517 144148517 single base substitution T C downstream_gene_variant LUSC-KR 4 144107828 144107828 single base substitution G A intron_variant LUSC-KR 4 144114238 144114238 single base substitution A T intron_variant LUSC-KR 4 144126542 144126542 single base substitution G C intron_variant LUSC-KR 4 144130122 144130122 single base substitution C G intron_variant LUSC-KR 4 144136379 144136379 single base substitution A G 3_prime_UTR_variant LUSC-KR 4 144136379 144136379 single base substitution A G intron_variant LUSC-KR 4 144139727 144139727 single base substitution G T downstream_gene_variant LUSC-KR 4 144139727 144139727 single base substitution G T intron_variant LUSC-KR 4 144140160 144140160 single base substitution A T downstream_gene_variant LUSC-KR 4 144140160 144140160 single base substitution A T intron_variant LUSC-US 4 144109067 144109067 single base substitution T C exon_variant LUSC-US 4 144109067 144109067 single base substitution T C synonymous_variant T257T 771T>C LUSC-US 4 144135239 144135239 single base substitution A G 3_prime_UTR_variant LUSC-US 4 144135239 144135239 single base substitution A G missense_variant K704E 2110A>G MALY-DE 4 144106294 144106294 single base substitution G C 5_prime_UTR_variant MALY-DE 4 144106294 144106294 single base substitution G C upstream_gene_variant MALY-DE 4 144125646 144125646 single base substitution G A exon_variant MALY-DE 4 144125646 144125646 single base substitution G A intron_variant MALY-DE 4 144126485 144126485 single base substitution G A intron_variant MALY-DE 4 144132490 144132490 single base substitution A C intron_variant MALY-DE 4 144145252 144145252 single base substitution T A downstream_gene_variant MALY-DE 4 144145396 144145396 insertion of <=200bp - A downstream_gene_variant MALY-DE 4 144148049 144148049 single base substitution C T downstream_gene_variant MALY-DE 4 144148671 144148671 single base substitution A T downstream_gene_variant MALY-DE 4 144149489 144149489 single base substitution A C downstream_gene_variant MELA-AU 4 144101167 144101167 single base substitution G A upstream_gene_variant MELA-AU 4 144101364 144101364 single base substitution T A upstream_gene_variant MELA-AU 4 144101439 144101439 single base substitution G A upstream_gene_variant MELA-AU 4 144101935 144101935 single base substitution G A upstream_gene_variant MELA-AU 4 144102164 144102164 single base substitution T A upstream_gene_variant MELA-AU 4 144102469 144102469 single base substitution A T upstream_gene_variant MELA-AU 4 144102757 144102757 single base substitution T A upstream_gene_variant MELA-AU 4 144102860 144102860 single base substitution G A upstream_gene_variant MELA-AU 4 144103569 144103569 single base substitution G A upstream_gene_variant MELA-AU 4 144104099 144104099 single base substitution T C upstream_gene_variant MELA-AU 4 144105072 144105072 single base substitution C T upstream_gene_variant MELA-AU 4 144105106 144105106 single base substitution C T upstream_gene_variant MELA-AU 4 144106074 144106074 single base substitution C T 5_prime_UTR_variant MELA-AU 4 144106074 144106074 single base substitution C T upstream_gene_variant MELA-AU 4 144106080 144106080 single base substitution C T 5_prime_UTR_variant MELA-AU 4 144106080 144106080 single base substitution C T upstream_gene_variant MELA-AU 4 144106082 144106082 single base substitution G A 5_prime_UTR_variant MELA-AU 4 144106082 144106082 single base substitution G A upstream_gene_variant MELA-AU 4 144107474 144107474 single base substitution A G intron_variant MELA-AU 4 144109246 144109246 single base substitution C T intron_variant MELA-AU 4 144110910 144110910 single base substitution C T intron_variant MELA-AU 4 144112022 144112022 single base substitution G T intron_variant MELA-AU 4 144112320 144112320 single base substitution T C intron_variant MELA-AU 4 144112586 144112586 single base substitution C T intron_variant MELA-AU 4 144113461 144113461 single base substitution C T intron_variant MELA-AU 4 144113871 144113871 single base substitution C T intron_variant MELA-AU 4 144113917 144113917 single base substitution T C intron_variant MELA-AU 4 144114069 144114069 deletion of <=200bp G - intron_variant MELA-AU 4 144115305 144115305 single base substitution C T intron_variant MELA-AU 4 144115681 144115681 single base substitution G A intron_variant MELA-AU 4 144115887 144115887 single base substitution C T intron_variant MELA-AU 4 144116257 144116257 single base substitution C T intron_variant MELA-AU 4 144116421 144116421 single base substitution G A intron_variant MELA-AU 4 144116719 144116719 single base substitution T A intron_variant MELA-AU 4 144116866 144116866 single base substitution C T splice_region_variant MELA-AU 4 144117046 144117046 single base substitution C T intron_variant MELA-AU 4 144117631 144117631 single base substitution G A intron_variant MELA-AU 4 144117900 144117900 single base substitution C T intron_variant MELA-AU 4 144118034 144118034 single base substitution T G intron_variant MELA-AU 4 144118262 144118262 single base substitution G C intron_variant MELA-AU 4 144118771 144118771 single base substitution G C intron_variant MELA-AU 4 144120157 144120157 single base substitution G A intron_variant MELA-AU 4 144120310 144120310 single base substitution C T intron_variant MELA-AU 4 144120958 144120958 single base substitution C T intron_variant MELA-AU 4 144121071 144121071 single base substitution C T intron_variant MELA-AU 4 144121565 144121565 single base substitution C T intron_variant MELA-AU 4 144122606 144122606 single base substitution C T intron_variant MELA-AU 4 144123222 144123222 single base substitution T G intron_variant MELA-AU 4 144124480 144124480 single base substitution C T intron_variant MELA-AU 4 144125098 144125098 single base substitution A G intron_variant MELA-AU 4 144125652 144125653 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 4 144125652 144125653 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 144126296 144126296 single base substitution T C intron_variant MELA-AU 4 144126945 144126945 single base substitution C T intron_variant MELA-AU 4 144127106 144127106 single base substitution C T intron_variant MELA-AU 4 144128261 144128261 single base substitution C T intron_variant MELA-AU 4 144129452 144129452 single base substitution C T intron_variant MELA-AU 4 144130701 144130702 deletion of <=200bp TT - intron_variant MELA-AU 4 144131099 144131099 single base substitution C T intron_variant MELA-AU 4 144131842 144131842 single base substitution T A intron_variant MELA-AU 4 144132880 144132880 single base substitution C T intron_variant MELA-AU 4 144133463 144133463 single base substitution C T splice_region_variant MELA-AU 4 144133681 144133681 single base substitution C T intron_variant MELA-AU 4 144134456 144134456 single base substitution A G intron_variant MELA-AU 4 144135130 144135130 single base substitution C T 3_prime_UTR_variant MELA-AU 4 144135130 144135130 single base substitution C T synonymous_variant F667F 2001C>T MELA-AU 4 144135209 144135209 single base substitution C T 3_prime_UTR_variant MELA-AU 4 144135209 144135209 single base substitution C T missense_variant P694S 2080C>T MELA-AU 4 144137735 144137735 single base substitution C T downstream_gene_variant MELA-AU 4 144137735 144137735 single base substitution C T intron_variant MELA-AU 4 144138300 144138300 single base substitution A G downstream_gene_variant MELA-AU 4 144138300 144138300 single base substitution A G intron_variant MELA-AU 4 144138316 144138316 single base substitution C T downstream_gene_variant MELA-AU 4 144138316 144138316 single base substitution C T intron_variant MELA-AU 4 144139064 144139064 single base substitution C T downstream_gene_variant MELA-AU 4 144139064 144139064 single base substitution C T intron_variant MELA-AU 4 144140609 144140609 single base substitution C T downstream_gene_variant MELA-AU 4 144140609 144140609 single base substitution C T intron_variant MELA-AU 4 144140730 144140730 single base substitution C T downstream_gene_variant MELA-AU 4 144140730 144140730 single base substitution C T intron_variant MELA-AU 4 144140753 144140753 single base substitution C T downstream_gene_variant MELA-AU 4 144140753 144140753 single base substitution C T intron_variant MELA-AU 4 144140991 144140991 single base substitution C T downstream_gene_variant MELA-AU 4 144140991 144140991 single base substitution C T intron_variant MELA-AU 4 144140992 144140992 single base substitution C T downstream_gene_variant MELA-AU 4 144140992 144140992 single base substitution C T intron_variant MELA-AU 4 144141508 144141508 single base substitution C T 3_prime_UTR_variant MELA-AU 4 144141508 144141508 single base substitution C T downstream_gene_variant MELA-AU 4 144141508 144141508 single base substitution C T missense_variant R1010W 3028C>T MELA-AU 4 144142687 144142687 single base substitution T C 3_prime_UTR_variant MELA-AU 4 144143885 144143885 single base substitution T G 3_prime_UTR_variant MELA-AU 4 144143898 144143898 single base substitution C T 3_prime_UTR_variant MELA-AU 4 144144451 144144451 single base substitution C T 3_prime_UTR_variant MELA-AU 4 144144797 144144797 single base substitution T C 3_prime_UTR_variant MELA-AU 4 144144926 144144926 single base substitution C T 3_prime_UTR_variant MELA-AU 4 144145351 144145351 single base substitution G A downstream_gene_variant MELA-AU 4 144145926 144145926 single base substitution C T downstream_gene_variant MELA-AU 4 144146272 144146272 single base substitution C T downstream_gene_variant MELA-AU 4 144146511 144146511 single base substitution C T downstream_gene_variant MELA-AU 4 144147413 144147413 single base substitution G C downstream_gene_variant MELA-AU 4 144147535 144147535 single base substitution C T downstream_gene_variant MELA-AU 4 144147809 144147809 single base substitution G A downstream_gene_variant MELA-AU 4 144148371 144148371 single base substitution A G downstream_gene_variant MELA-AU 4 144148510 144148510 single base substitution C T downstream_gene_variant MELA-AU 4 144148942 144148942 single base substitution A G downstream_gene_variant MELA-AU 4 144149052 144149052 single base substitution A G downstream_gene_variant MELA-AU 4 144149148 144149148 single base substitution C T downstream_gene_variant MELA-AU 4 144149456 144149456 single base substitution C T downstream_gene_variant ORCA-IN 4 144101801 144101801 single base substitution C G upstream_gene_variant OV-AU 4 144103810 144103810 single base substitution G A upstream_gene_variant OV-AU 4 144106135 144106135 single base substitution C G 5_prime_UTR_variant OV-AU 4 144106135 144106135 single base substitution C G upstream_gene_variant OV-AU 4 144107449 144107449 single base substitution G T intron_variant OV-AU 4 144113641 144113641 single base substitution T C intron_variant OV-AU 4 144115880 144115880 single base substitution C T intron_variant OV-AU 4 144125480 144125480 single base substitution A G intron_variant OV-AU 4 144126112 144126112 single base substitution C G intron_variant OV-AU 4 144132053 144132053 single base substitution T G intron_variant OV-AU 4 144138168 144138168 single base substitution T A downstream_gene_variant OV-AU 4 144138168 144138168 single base substitution T A intron_variant OV-AU 4 144138193 144138193 single base substitution G T downstream_gene_variant OV-AU 4 144138193 144138193 single base substitution G T intron_variant OV-US 4 144135702 144135702 single base substitution A G 3_prime_UTR_variant OV-US 4 144135702 144135702 single base substitution A G missense_variant Y858C 2573A>G PACA-AU 4 144101209 144101209 single base substitution C T upstream_gene_variant PACA-AU 4 144106967 144106967 single base substitution G A exon_variant PACA-AU 4 144106967 144106967 single base substitution G A missense_variant D122N 364G>A PACA-AU 4 144109316 144109316 deletion of <=200bp T - intron_variant PACA-AU 4 144110759 144110759 single base substitution G A intron_variant PACA-AU 4 144112103 144112103 single base substitution A T intron_variant PACA-AU 4 144115627 144115627 single base substitution A G intron_variant PACA-AU 4 144121627 144121627 single base substitution A G intron_variant PACA-AU 4 144124376 144124376 single base substitution G A intron_variant PACA-AU 4 144127980 144127980 single base substitution T A intron_variant PACA-AU 4 144134859 144134859 single base substitution G A 3_prime_UTR_variant PACA-AU 4 144134859 144134859 single base substitution G A missense_variant R577H 1730G>A PACA-AU 4 144139427 144139427 single base substitution T G downstream_gene_variant PACA-AU 4 144139427 144139427 single base substitution T G intron_variant PACA-CA 4 144101438 144101438 single base substitution A T upstream_gene_variant PACA-CA 4 144110941 144110941 single base substitution T C intron_variant PACA-CA 4 144112074 144112074 insertion of <=200bp - A intron_variant PACA-CA 4 144127091 144127091 single base substitution C T intron_variant PACA-CA 4 144133465 144133465 single base substitution C T splice_region_variant PACA-CA 4 144136957 144136957 single base substitution A C downstream_gene_variant PACA-CA 4 144136957 144136957 single base substitution A C intron_variant PACA-CA 4 144137807 144137807 single base substitution A T downstream_gene_variant PACA-CA 4 144137807 144137807 single base substitution A T intron_variant PACA-CA 4 144138317 144138317 single base substitution A T downstream_gene_variant PACA-CA 4 144138317 144138317 single base substitution A T intron_variant PACA-CA 4 144141341 144141341 single base substitution G A downstream_gene_variant PACA-CA 4 144141341 144141341 single base substitution G A intron_variant PACA-CA 4 144141402 144141402 single base substitution A G downstream_gene_variant PACA-CA 4 144141402 144141402 single base substitution A G intron_variant PACA-CA 4 144141674 144141674 single base substitution A T 3_prime_UTR_variant PACA-CA 4 144141674 144141674 single base substitution A T downstream_gene_variant PACA-CA 4 144146477 144146477 deletion of <=200bp T - downstream_gene_variant PBCA-DE 4 144115248 144115248 single base substitution A G intron_variant PBCA-DE 4 144120138 144120138 deletion of <=200bp T - intron_variant PBCA-DE 4 144121462 144121462 single base substitution A G intron_variant PBCA-DE 4 144123048 144123048 single base substitution A T intron_variant PBCA-DE 4 144128442 144128442 single base substitution C T intron_variant PBCA-DE 4 144135640 144135640 single base substitution G T 3_prime_UTR_variant PBCA-DE 4 144135640 144135640 single base substitution G T missense_variant L837F 2511G>T PRAD-CA 4 144105214 144105214 single base substitution C A upstream_gene_variant PRAD-CA 4 144112913 144112913 single base substitution C T intron_variant PRAD-CA 4 144118982 144118982 single base substitution A C exon_variant PRAD-CA 4 144118982 144118982 single base substitution A C missense_variant N319H 955A>C PRAD-CA 4 144126655 144126655 single base substitution A G intron_variant PRAD-UK 4 144118634 144118634 deletion of <=200bp C - intron_variant PRAD-UK 4 144127085 144127109 deletion of <=200bp AAATGTCGGTGTAAGAATCTTCTTA - intron_variant PRAD-UK 4 144134023 144134023 single base substitution A T intron_variant PRAD-UK 4 144139522 144139527 deletion of <=200bp TTGTGA - downstream_gene_variant PRAD-UK 4 144139522 144139527 deletion of <=200bp TTGTGA - intron_variant PRAD-UK 4 144140812 144140812 single base substitution C A downstream_gene_variant PRAD-UK 4 144140812 144140812 single base substitution C A intron_variant PRAD-US 4 144133502 144133502 single base substitution A G 3_prime_UTR_variant PRAD-US 4 144133502 144133502 single base substitution A G missense_variant E510G 1529A>G READ-US 4 144107280 144107280 deletion of <=200bp C - exon_variant READ-US 4 144107280 144107280 deletion of <=200bp C - frameshift_variant S226 READ-US 4 144141532 144141532 single base substitution G A 3_prime_UTR_variant READ-US 4 144141532 144141532 single base substitution G A downstream_gene_variant READ-US 4 144141532 144141532 single base substitution G A missense_variant D1018N 3052G>A RECA-EU 4 144102238 144102238 single base substitution T G upstream_gene_variant RECA-EU 4 144111700 144111700 single base substitution T A intron_variant RECA-EU 4 144127938 144127938 single base substitution G A intron_variant SKCA-BR 4 144110252 144110253 deletion of <=200bp AT - intron_variant SKCA-BR 4 144118049 144118049 single base substitution C T intron_variant SKCA-BR 4 144121862 144121862 single base substitution C T intron_variant SKCA-BR 4 144124394 144124394 single base substitution T A intron_variant SKCA-BR 4 144128397 144128397 single base substitution G A intron_variant SKCA-BR 4 144128819 144128820 deletion of <=200bp AT - intron_variant SKCA-BR 4 144134222 144134222 single base substitution C T intron_variant SKCA-BR 4 144135665 144135665 single base substitution G C 3_prime_UTR_variant SKCA-BR 4 144135665 144135665 single base substitution G C missense_variant V846L 2536G>C SKCA-BR 4 144139417 144139417 single base substitution A G downstream_gene_variant SKCA-BR 4 144139417 144139417 single base substitution A G intron_variant SKCA-BR 4 144139615 144139615 single base substitution C T downstream_gene_variant SKCA-BR 4 144139615 144139615 single base substitution C T intron_variant SKCA-BR 4 144139935 144139935 single base substitution C T downstream_gene_variant SKCA-BR 4 144139935 144139935 single base substitution C T intron_variant SKCA-BR 4 144141742 144141742 single base substitution T C 3_prime_UTR_variant SKCA-BR 4 144142306 144142306 single base substitution G A 3_prime_UTR_variant SKCA-BR 4 144146380 144146380 single base substitution A T downstream_gene_variant SKCM-US 4 144124642 144124642 single base substitution A C exon_variant SKCM-US 4 144124642 144124642 single base substitution A C missense_variant T378P 1132A>C SKCM-US 4 144133488 144133488 single base substitution T A 3_prime_UTR_variant SKCM-US 4 144133488 144133488 single base substitution T A synonymous_variant P505P 1515T>A SKCM-US 4 144133528 144133528 single base substitution C T 3_prime_UTR_variant SKCM-US 4 144133528 144133528 single base substitution C T missense_variant P519S 1555C>T SKCM-US 4 144135130 144135130 single base substitution C T 3_prime_UTR_variant SKCM-US 4 144135130 144135130 single base substitution C T synonymous_variant F667F 2001C>T SKCM-US 4 144135968 144135968 single base substitution A T 3_prime_UTR_variant SKCM-US 4 144135968 144135968 single base substitution A T stop_gained K947* 2839A>T STAD-US 4 144106705 144106705 single base substitution C G missense_variant D34E 102C>G STAD-US 4 144106705 144106705 single base substitution C G upstream_gene_variant STAD-US 4 144106875 144106875 single base substitution A G exon_variant STAD-US 4 144106875 144106875 single base substitution A G missense_variant Q91R 272A>G STAD-US 4 144106972 144106972 single base substitution C T exon_variant STAD-US 4 144106972 144106972 single base substitution C T synonymous_variant L123L 369C>T STAD-US 4 144107096 144107096 single base substitution A G exon_variant STAD-US 4 144107096 144107096 single base substitution A G missense_variant I165V 493A>G STAD-US 4 144127279 144127279 single base substitution A G 3_prime_UTR_variant STAD-US 4 144127279 144127279 single base substitution A G missense_variant R435G 1303A>G STAD-US 4 144134809 144134809 single base substitution T G 3_prime_UTR_variant STAD-US 4 144134809 144134809 single base substitution T G synonymous_variant T560T 1680T>G STAD-US 4 144135153 144135153 deletion of <=200bp A - 3_prime_UTR_variant STAD-US 4 144135153 144135153 deletion of <=200bp A - frameshift_variant E675 STAD-US 4 144135593 144135593 deletion of <=200bp A - 3_prime_UTR_variant STAD-US 4 144135593 144135593 deletion of <=200bp A - frameshift_variant K822 STAD-US 4 144135593 144135593 insertion of <=200bp - A 3_prime_UTR_variant STAD-US 4 144135593 144135593 insertion of <=200bp - A frameshift_variant K822K? STAD-US 4 144135635 144135635 single base substitution A G 3_prime_UTR_variant STAD-US 4 144135635 144135635 single base substitution A G missense_variant K836E 2506A>G STAD-US 4 144141531 144141531 single base substitution C T 3_prime_UTR_variant STAD-US 4 144141531 144141531 single base substitution C T downstream_gene_variant STAD-US 4 144141531 144141531 single base substitution C T synonymous_variant N1017N 3051C>T THCA-US 4 144109022 144109022 single base substitution G A exon_variant THCA-US 4 144109022 144109022 single base substitution G A synonymous_variant Q242Q 726G>A UCEC-US 4 144106734 144106734 single base substitution T G missense_variant L44R 131T>G UCEC-US 4 144106734 144106734 single base substitution T G upstream_gene_variant UCEC-US 4 144106796 144106796 single base substitution C T synonymous_variant L65L 193C>T UCEC-US 4 144106796 144106796 single base substitution C T upstream_gene_variant UCEC-US 4 144109000 144109000 single base substitution T C exon_variant UCEC-US 4 144109000 144109000 single base substitution T C missense_variant V235A 704T>C UCEC-US 4 144118978 144118978 single base substitution T A splice_region_variant UCEC-US 4 144119007 144119007 single base substitution G A exon_variant UCEC-US 4 144119007 144119007 single base substitution G A missense_variant R327K 980G>A UCEC-US 4 144124582 144124582 single base substitution T G exon_variant UCEC-US 4 144124582 144124582 single base substitution T G missense_variant L358V 1072T>G UCEC-US 4 144127259 144127259 single base substitution C A 3_prime_UTR_variant UCEC-US 4 144127259 144127259 single base substitution C A missense_variant S428Y 1283C>A UCEC-US 4 144127340 144127340 single base substitution A G 3_prime_UTR_variant UCEC-US 4 144127340 144127340 single base substitution A G missense_variant Y455C 1364A>G UCEC-US 4 144130761 144130761 single base substitution C A 3_prime_UTR_variant UCEC-US 4 144130761 144130761 single base substitution C A stop_gained S483* 1448C>A UCEC-US 4 144133490 144133490 single base substitution G A 3_prime_UTR_variant UCEC-US 4 144133490 144133490 single base substitution G A missense_variant R506Q 1517G>A UCEC-US 4 144134979 144134979 single base substitution C T 3_prime_UTR_variant UCEC-US 4 144134979 144134979 single base substitution C T missense_variant S617L 1850C>T UCEC-US 4 144135073 144135073 single base substitution C A 3_prime_UTR_variant UCEC-US 4 144135073 144135073 single base substitution C A synonymous_variant A648A 1944C>A UCEC-US 4 144135087 144135087 single base substitution C T 3_prime_UTR_variant UCEC-US 4 144135087 144135087 single base substitution C T missense_variant P653L 1958C>T UCEC-US 4 144135876 144135876 single base substitution T G 3_prime_UTR_variant UCEC-US 4 144135876 144135876 single base substitution T G missense_variant F916C 2747T>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CRC-19T COSM5481860 c.622G>A p.A208T Substitution - Missense 4:143186072-143186072 + B110-Tumor COSM1757104 c.1016T>C p.L339P Substitution - Missense 4:143197890-143197890 + CSCC-60-T COSM4534615 c.2104G>C p.V702L Substitution - Missense 4:143214080-143214080 + SNU-175 COSM3126189 c.2423C>T p.S808F Substitution - Missense 4:143214399-143214399 + LUAD-S00484 COSM343045 c.658G>T p.V220F Substitution - Missense 4:143186108-143186108 + TCGA-EM-A1YB-01 COSM3373403 c.726G>A p.Q242Q Substitution - coding silent 4:143187869-143187869 + T3724 COSM4739823 c.3096A>G p.G1032G Substitution - coding silent 4:143220423-143220423 + TCGA-AP-A0LM-01 COSM1051561 c.193C>T p.L65L Substitution - coding silent 4:143185643-143185643 + TCGA-G3-A3CH-01 COSM4918026 c.2759G>T p.R920I Substitution - Missense 4:143214735-143214735 + 112313 COSM95476 c.994G>C p.A332P Substitution - Missense 4:143197868-143197868 + B74-Tumor COSM4005683 c.404T>G p.V135G Substitution - Missense 4:143185854-143185854 + TCGA-BR-4361-01 COSM4122500 c.2506A>G p.K836E Substitution - Missense 4:143214482-143214482 + TCGA-F1-6177-01 COSM1539298 c.3051C>T p.N1017N Substitution - coding silent 4:143220378-143220378 + TCGA-BS-A0UV-01 COSM1051567 c.980G>A p.R327K Substitution - Missense 4:143197854-143197854 + TCGA-06-0124 COSM2149290 c.625_627delGAG p.E209delE Deletion - In frame 4:143186075-143186077 + TCGA-G4-6314-01 COSM3696465 c.3029G>A p.R1010Q Substitution - Missense 4:143220356-143220356 + TCGA-DD-A1E9-01 COSM4912351 c.642G>A p.L214L Substitution - coding silent 4:143186092-143186092 + LUAD-B00859 COSM332433 c.2183C>T p.P728L Substitution - Missense 4:143214159-143214159 + B59 COSM1753555 c.423G>A p.P141P Substitution - coding silent 4:143185873-143185873 + HT115 COSM3126183 c.2082T>C p.P694P Substitution - coding silent 4:143214058-143214058 + TCGA-CH-5752-01 COSM1131238 c.1529A>G p.E510G Substitution - Missense 4:143212349-143212349 + TCGA-AX-A0J0-01 COSM1051575 c.1448C>A p.S483* Substitution - Nonsense 4:143209608-143209608 + SNU-175 COSM3126175 c.1809C>T p.C603C Substitution - coding silent 4:143213785-143213785 + sysucc-1163T COSM5459089 c.2634T>C p.S878S Substitution - coding silent 4:143214610-143214610 + TCGA-F5-6814-01 COSM5826254 c.677delC p.T227fs*9 Deletion - Frameshift 4:143186127-143186127 + TCGA-BR-A452-01 COSM4122495 c.102C>G p.D34E Substitution - Missense 4:143185552-143185552 + TCGA-EE-A29R-06 COSM3600564 c.2839A>T p.K947* Substitution - Nonsense 4:143214815-143214815 + ESCC-078T COSM3940756 c.518G>T p.R173L Substitution - Missense 4:143185968-143185968 + TCGA-BH-A0GY-01 COSM447430 c.825T>G p.I275M Substitution - Missense 4:143195722-143195722 + ML_89_T_01 COSM5037901 c.2536G>C p.V846L Substitution - Missense 4:143214512-143214512 + TCGA-FW-A3R5-06 COSM3917210 c.1555C>T p.P519S Substitution - Missense 4:143212375-143212375 + C086 COSM5541489 c.832C>T p.L278L Substitution - coding silent 4:143195729-143195729 + TCGA-C4-A0F0-01 COSM420182 c.1730G>A p.R577H Substitution - Missense 4:143213706-143213706 + TCGA-66-2788-01 COSM732507 c.771T>C p.T257T Substitution - coding silent 4:143187914-143187914 + RK245_C01 COSM316416 c.525A>G p.I175M Substitution - Missense 4:143185975-143185975 + CHC892T COSM4958806 c.482G>A p.G161E Substitution - Missense 4:143185932-143185932 + 2492729 COSM5725699 c.1017T>A p.L339L Substitution - coding silent 4:143197891-143197891 + LUAD-S00484 COSM343046 c.666A>T p.A222A Substitution - coding silent 4:143186116-143186116 + TCGA-C5-A1BQ-01 COSM4842221 c.115G>C p.E39Q Substitution - Missense 4:143185565-143185565 + TCGA-HU-A4G9-01 COSM4122496 c.272A>G p.Q91R Substitution - Missense 4:143185722-143185722 + T207 COSM4739822 c.910A>G p.T304A Substitution - Missense 4:143195807-143195807 + TCGA-AA-3672-01 COSM267734 c.1638G>A p.Q546Q Substitution - coding silent 4:143213614-143213614 + 412 COSM4431089 c.127G>A p.D43N Substitution - Missense 4:143185577-143185577 + TCGA-D1-A16Y-01 COSM1051579 c.1850C>T p.S617L Substitution - Missense 4:143213826-143213826 + B59-Tumor COSM1753555 c.423G>A p.P141P Substitution - coding silent 4:143185873-143185873 + LUAD-NYU160 COSM370552 c.648C>T p.S216S Substitution - coding silent 4:143186098-143186098 + LUAD-S01409 COSM346736 c.2002A>G p.I668V Substitution - Missense 4:143213978-143213978 + 09_4178 COSM1645117 c.4G>C p.D2H Substitution - Missense 4:143185454-143185454 + TCGA-DS-A0VN-01 COSM460684 c.286C>G p.L96V Substitution - Missense 4:143185736-143185736 + TCGA-EI-6917-01 COSM3428199 c.3052G>A p.D1018N Substitution - Missense 4:143220379-143220379 + ESCC_99 COSM5637774 c.2397T>C p.S799S Substitution - coding silent 4:143214373-143214373 + ESO-0129 COSM1270088 c.103G>T p.E35* Substitution - Nonsense 4:143185553-143185553 + QC2-33-T2 COSM5654496 c.2119C>A p.P707T Substitution - Missense 4:143214095-143214095 + TCGA-D1-A167-01 COSM1051577 c.1517G>A p.R506Q Substitution - Missense 4:143212337-143212337 + ESO-139 COSM1270089 c.1680T>G p.T560T Substitution - coding silent 4:143213656-143213656 + TCGA-AG-3600-01 COSM288045 c.1041G>A p.A347A Substitution - coding silent 4:143197915-143197915 + LUAD-S00488 COSM404076 c.2686C>T p.P896S Substitution - Missense 4:143214662-143214662 + TCGA-EI-6507-01 COSM5078272 c.2235G>A p.L745L Substitution - coding silent 4:143214211-143214211 + Pat_06_A COSM5865807 c.1424C>G p.S475C Substitution - Missense 4:143209584-143209584 + DU-145 COSM1232060 c.3028C>T p.R1010W Substitution - Missense 4:143220355-143220355 + Pa39X COSM84871 c.2262C>A p.I754I Substitution - coding silent 4:143214238-143214238 + TCGA-BR-8485-01 COSM1270089 c.1680T>G p.T560T Substitution - coding silent 4:143213656-143213656 + NCI-H322M COSM1194910 c.655G>C p.E219Q Substitution - Missense 4:143186105-143186105 + HCC2998 COSM1671341 c.959G>T p.R320L Substitution - Missense 4:143197833-143197833 + B78 COSM1753554 c.9G>C p.K3N Substitution - Missense 4:143185459-143185459 + TCGA-B0-5695-01 COSM480907 c.45G>A p.L15L Substitution - coding silent 4:143185495-143185495 + TCGA-AP-A054-01 COSM1051559 c.131T>G p.L44R Substitution - Missense 4:143185581-143185581 + SW1463 COSM3126146 c.138C>T p.T46T Substitution - coding silent 4:143185588-143185588 + YUKAT COSM5400536 c.2405C>T p.S802L Substitution - Missense 4:143214381-143214381 + TCGA-AD-6895-01 COSM1427301 c.2464delA p.K823fs*2 Deletion - Frameshift 4:143214440-143214440 + ICGC_0060 COSM420182 c.1730G>A p.R577H Substitution - Missense 4:143213706-143213706 + ccRCC-54 COSM1664920 c.1581A>T p.E527D Substitution - Missense 4:143212401-143212401 + TCGA-DK-A1A7-01 COSM420183 c.1210-1G>A p.? Unknown 4:143206032-143206032 + HT55 COSM3126152 c.654A>T p.Q218H Substitution - Missense 4:143186104-143186104 + HT115 COSM1051571 c.1283C>A p.S428Y Substitution - Missense 4:143206106-143206106 + NCI-H2009 COSM25355 c.2815G>T p.D939Y Substitution - Missense 4:143214791-143214791 + TCGA-BR-8484-01 COSM4122497 c.369C>T p.L123L Substitution - coding silent 4:143185819-143185819 + PD4123a COSM165446 c.1273C>A p.Q425K Substitution - Missense 4:143206096-143206096 + H322T COSM1194910 c.655G>C p.E219Q Substitution - Missense 4:143186105-143186105 + S01020 COSM5665219 c.1921C>T p.Q641* Substitution - Nonsense 4:143213897-143213897 + LOVO COSM3126198 c.2839delA p.K948fs*8 Deletion - Frameshift 4:143214815-143214815 + 9399_CLM COSM5756433 c.3106A>G p.T1036A Substitution - Missense 4:143220433-143220433 + T3262 COSM1427301 c.2464delA p.K823fs*2 Deletion - Frameshift 4:143214440-143214440 + TCGA-AP-A051-01 COSM1051581 c.1944C>A p.A648A Substitution - coding silent 4:143213920-143213920 + TCGA-EE-A3J5-06 COSM3600562 c.1515T>A p.P505P Substitution - coding silent 4:143212335-143212335 + TCGA-F1-6177-01 COSM4122498 c.493A>G p.I165V Substitution - Missense 4:143185943-143185943 + B78-Tumor COSM1753554 c.9G>C p.K3N Substitution - Missense 4:143185459-143185459 + LUAD-E01278 COSM394287 c.978G>A p.V326V Substitution - coding silent 4:143197852-143197852 + TCGA-BS-A0UV-01 COSM1051579 c.1850C>T p.S617L Substitution - Missense 4:143213826-143213826 + TCGA-BR-6452-01 COSM4122499 c.1303A>G p.R435G Substitution - Missense 4:143206126-143206126 + H1672 COSM316416 c.525A>G p.I175M Substitution - Missense 4:143185975-143185975 + TCGA-DK-A2I6-01 COSM1309769 c.1926T>G p.D642E Substitution - Missense 4:143213902-143213902 + PT48 COSM5400536 c.2405C>T p.S802L Substitution - Missense 4:143214381-143214381 + TCGA-AG-3883-01 COSM5068203 c.195G>T p.L65L Substitution - coding silent 4:143185645-143185645 + 587376 COSM1232064 c.2086G>A p.E696K Substitution - Missense 4:143214062-143214062 + 227_T COSM3946019 c.3061G>T p.G1021* Substitution - Nonsense 4:143220388-143220388 + PD18031a COSM5770813 c.2923G>C p.E975Q Substitution - Missense 4:143214899-143214899 + 2334192 COSM316416 c.525A>G p.I175M Substitution - Missense 4:143185975-143185975 + SW948 COSM3126165 c.1405T>G p.F469V Substitution - Missense 4:143209565-143209565 + TCGA-FS-A4F8-06 COSM3600561 c.1132A>C p.T378P Substitution - Missense 4:143203489-143203489 + HCC59T COSM3660905 c.2040T>G p.S680R Substitution - Missense 4:143214016-143214016 + HCC2998 COSM1671341 c.959G>T p.R320L Substitution - Missense 4:143197833-143197833 + ICGC_MB56 COSM3765111 c.2511G>T p.L837F Substitution - Missense 4:143214487-143214487 + TCGA-BS-A0UV-01 COSM1051585 c.2747T>G p.F916C Substitution - Missense 4:143214723-143214723 + CRC-19T COSM5481861 c.2324A>G p.H775R Substitution - Missense 4:143214300-143214300 + CHC097T COSM5347820 c.450_452delTCT p.L151delL Deletion - In frame 4:143185900-143185902 + TCGA-D5-6930-01 COSM1427306 c.2782T>A p.S928T Substitution - Missense 4:143214758-143214758 + TCGA-BT-A0YX-01 COSM420184 c.518G>A p.R173Q Substitution - Missense 4:143185968-143185968 + TCGA-AA-A010-01 COSM286401 c.2521C>T p.L841L Substitution - coding silent 4:143214497-143214497 + TCGA-EE-A20C-06 COSM3600563 c.2001C>T p.F667F Substitution - coding silent 4:143213977-143213977 + 111665 COSM96269 c.1359A>G p.T453T Substitution - coding silent 4:143206182-143206182 + 587222 COSM1232060 c.3028C>T p.R1010W Substitution - Missense 4:143220355-143220355 + 585208 COSM326840 c.3004G>T p.A1002S Substitution - Missense 4:143220331-143220331 + 587376 COSM1232063 c.1048T>G p.L350V Substitution - Missense 4:143197922-143197922 + TCGA-G3-A3CH-01 COSM4918014 c.2554T>C p.S852P Substitution - Missense 4:143214530-143214530 + TCGA-BS-A0UF-01 COSM1051569 c.1072T>G p.L358V Substitution - Missense 4:143203429-143203429 + TCGA-AX-A05Z-01 COSM1051571 c.1283C>A p.S428Y Substitution - Missense 4:143206106-143206106 + PTC-14C COSM4158829 c.776A>C p.D259A Substitution - Missense 4:143187919-143187919 + TCGA-DD-A4NA-01 COSM4920922 c.1866T>C p.P622P Substitution - coding silent 4:143213842-143213842 + 587284 COSM1232062 c.2764A>G p.T922A Substitution - Missense 4:143214740-143214740 + WA18 COSM242206 c.2341T>G p.L781V Substitution - Missense 4:143214317-143214317 + 587284 COSM1232061 c.2689A>G p.S897G Substitution - Missense 4:143214665-143214665 + pfg127T COSM4762253 c.52A>G p.K18E Substitution - Missense 4:143185502-143185502 + TCGA-B5-A11E-01 COSM1051583 c.1958C>T p.P653L Substitution - Missense 4:143213934-143213934 + TCGA-CM-6162-01 COSM1427297 c.403G>A p.V135M Substitution - Missense 4:143185853-143185853 + Pat_02_B COSM3600561 c.1132A>C p.T378P Substitution - Missense 4:143203489-143203489 + TCGA-DK-A1AC-01 COSM1309768 c.744G>C p.M248I Substitution - Missense 4:143187887-143187887 + TCGA-AR-A0TX-01 COSM394287 c.978G>A p.V326V Substitution - coding silent 4:143197852-143197852 + PD13631a COSM5767730 c.2348A>C p.N783T Substitution - Missense 4:143214324-143214324 + CHC892T COSM4958806 c.482G>A p.G161E Substitution - Missense 4:143185932-143185932 + TCGA-A6-5665-01 COSM1427296 c.236T>C p.F79S Substitution - Missense 4:143185686-143185686 + YUKLAB COSM1695037 c.1040C>T p.A347V Substitution - Missense 4:143197914-143197914 + CPCG0201-F1 COSM4879899 c.955A>C p.N319H Substitution - Missense 4:143197829-143197829 + 2492729 COSM5727742 c.1843G>A p.D615N Substitution - Missense 4:143213819-143213819 + TCGA-UB-A7MB-01 COSM4932506 c.1558A>T p.R520* Substitution - Nonsense 4:143212378-143212378 + TCGA-AA-A00N-01 COSM278041 c.2171A>G p.Y724C Substitution - Missense 4:143214147-143214147 + TCGA-AP-A0LM-01 COSM1051563 c.704T>C p.V235A Substitution - Missense 4:143187847-143187847 + 8013294 COSM3392715 c.364G>A p.D122N Substitution - Missense 4:143185814-143185814 + TCGA-AX-A05Z-01 COSM1051565 c.951T>A p.V317V Substitution - coding silent 4:143197825-143197825 + TCGA-D1-A0ZR-01 COSM1051573 c.1364A>G p.Y455C Substitution - Missense 4:143206187-143206187 + 8030137 COSM420182 c.1730G>A p.R577H Substitution - Missense 4:143213706-143213706 + 394 COSM4428569 c.1361G>T p.C454F Substitution - Missense 4:143206184-143206184 + TCGA-06-0646-01 COSM2151309 c.3039A>T p.G1013G Substitution - coding silent 4:143220366-143220366 + TCGA-AA-3672-01 COSM267735 c.1911A>G p.S637S Substitution - coding silent 4:143213887-143213887 + TCGA-A6-6654-01 COSM1427305 c.2589G>A p.R863R Substitution - coding silent 4:143214565-143214565 + SNUH_G76_S1 COSM4416508 c.2852G>A p.S951N Substitution - Missense 4:143214828-143214828 + TCGA-06-0646 COSM2151309 c.3039A>T p.G1013G Substitution - coding silent 4:143220366-143220366 + TCGA-AN-A0AK-01 COSM3825261 c.223G>T p.E75* Substitution - Nonsense 4:143185673-143185673 + 2492728 COSM5725699 c.1017T>A p.L339L Substitution - coding silent 4:143197891-143197891 + Pat_41_B COSM5865808 c.1548G>A p.W516* Substitution - Nonsense 4:143212368-143212368 + HCC59 COSM3660905 c.2040T>G p.S680R Substitution - Missense 4:143214016-143214016 + PDA_043 COSM5000340 c.179T>G p.V60G Substitution - Missense 4:143185629-143185629 + TCGA-60-2713-01 COSM732506 c.2110A>G p.K704E Substitution - Missense 4:143214086-143214086 + SJOS001112_M2 COSM5024038 c.2908C>A p.P970T Substitution - Missense 4:143214884-143214884 + H2009 COSM25355 c.2815G>T p.D939Y Substitution - Missense 4:143214791-143214791 + TCGA-CA-6717-01 COSM1427299 c.1030T>C p.S344P Substitution - Missense 4:143197904-143197904 + B47 COSM1757106 c.2337A>C p.K779N Substitution - Missense 4:143214313-143214313 + SH-0622 COSM5017488 c.2024delA p.T677fs*2 Deletion - Frameshift 4:143214000-143214000 + B110 COSM1757104 c.1016T>C p.L339P Substitution - Missense 4:143197890-143197890 + ESCC_130 COSM5642108 c.2346C>G p.D782E Substitution - Missense 4:143214322-143214322 + B74-Tumor COSM1757105 c.2203A>G p.N735D Substitution - Missense 4:143214179-143214179 + T3024 COSM4739821 c.702T>G p.S234S Substitution - coding silent 4:143187845-143187845 + Pat_41_B COSM5865809 c.2128C>T p.P710S Substitution - Missense 4:143214104-143214104 + TCGA-AZ-4315-01 COSM1427302 c.2565T>G p.S855R Substitution - Missense 4:143214541-143214541 + B74 COSM1757105 c.2203A>G p.N735D Substitution - Missense 4:143214179-143214179 + TCGA-13-1483-01 COSM76971 c.2573A>G p.Y858C Substitution - Missense 4:143214549-143214549 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.480825;Hs.480848

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.E510G c.1529A>G 4 144133502 PRAD A G Missense p.I165V c.493A>G 4 144107096 STAD A G Missense p.I175M c.525A>G 4 144107128 SCLC A G Missense p.K704E c.2110A>G 4 144135239 LUSC A G Missense p.Y455C c.1364A>G 4 144127340 UCEC A G Missense p.Y858C c.2573A>G 4 144135702 OV A G Synonymous p.T453T c.1359A>G 4 144127335 BRCA A T Missense p.R863W c.2587A>T 4 144135716 LUAD A T Nonsense p.K947* c.2839A>T 4 144135968 CM A T Synonymous p.G1013G c.3039A>T 4 144141519 GBM C A Missense p.H336Q c.1008C>A 4 144119035 HNSC C A Missense p.Q425K c.1273C>A 4 144127249 BRCA C A Synonymous p.I754I c.2262C>A 4 144135391 PAAD C T IntronicSNV . c.1209+562C>T 4 144125281 CLL C T Missense p.H848Y c.2542C>T 4 144135671 HNSC C T Missense p.P324L c.971C>T 4 144118998 LUAD C T Missense p.S617L c.1850C>T 4 144134979 UCEC C T Missense p.S844F c.2531C>T 4 144135660 CM C T Synonymous p.F667F c.2001C>T 4 144135130 CM C T Synonymous p.I4I c.12C>T 4 144106615 CM C T Synonymous p.N1017N c.3051C>T 4 144141531 STAD G A IntronicSNV . c.1209+927G>A 4 144125646 DLBCL G A Missense p.G1021R c.3061G>A 4 144141541 CM G A Missense p.G652S c.1954G>A 4 144135083 COREAD G A Missense p.R173Q c.518G>A 4 144107121 BLCA G A Missense p.R577H c.1730G>A 4 144134859 BLCA G A Missense p.R577H c.1730G>A 4 144134859 PAAD G A SpliceAcceptorSNV . c.1210-1G>A 4 144127185 BLCA G A Synonymous p.A347A c.1041G>A 4 144119068 COREAD G A Synonymous p.L15L c.45G>A 4 144106648 RCCC G A Synonymous p.Q242Q c.726G>A 4 144109022 THCA G - Frameshift p.V60Wfs*42 c.178delG 4 144106780 HNSC G T Missense p.A1002S c.3004G>T 4 144141484 SCLC G T Missense p.L837F c.2511G>T 4 144135640 MB G T Missense p.V300F c.898G>T 4 144116948 LUAD G T Nonsense p.E35* c.103G>T 4 144106706 ESCA T A Missense p.I780N c.2339T>A 4 144135468 STAD T A Synonymous p.P505P c.1515T>A 4 144133488 CM T C Synonymous p.L380L c.1138T>C 4 144124648 LUAD T C Synonymous p.T257T c.771T>C 4 144109067 LUSC T G Missense p.D642E c.1926T>G 4 144135055 BLCA T G Missense p.I275M c.825T>G 4 144116875 BRCA T G Missense p.L44R c.131T>G 4 144106734 UCEC T G Synonymous p.T560T c.1680T>G 4 144134809 ESCA