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 13 31205538 31205538 + Missense_Mutation SNP A A G TCGA-KQ-A41N-01A-11D-A339-08 TCGA-KQ-A41N-10D-01D-A339-08 g.chr13:31205538A>G c.795A>G c.(793-795)atA>atG p.I265M BLCA 13 31205593 31205593 + Nonsense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 g.chr13:31205593C>T c.850C>T c.(850-852)Caa>Taa p.Q284* BLCA 13 31211905 31211905 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr13:31211905C>T c.893C>T c.(892-894)tCa>tTa p.S298L BLCA 13 31216887 31216887 + Nonsense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 g.chr13:31216887C>T c.1105C>T c.(1105-1107)Caa>Taa p.Q369* BLCA 13 31221068 31221068 + Splice_Site SNP G G A TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr13:31221068G>A c.e7-1 BLCA 13 31227428 31227428 + Missense_Mutation SNP T T A TCGA-FD-A5C1-01A-11D-A289-08 TCGA-FD-A5C1-10A-01D-A289-08 g.chr13:31227428T>A c.1382T>A c.(1381-1383)aTt>aAt p.I461N BLCA 13 31231834 31231834 + Silent SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 g.chr13:31231834C>G c.1620C>G c.(1618-1620)gcC>gcG p.A540A BLCA 13 31231851 31231851 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 g.chr13:31231851C>T c.1637C>T c.(1636-1638)tCa>tTa p.S546L BLCA 13 31231955 31231955 + Missense_Mutation SNP G G A TCGA-4Z-AA81-01A-11D-A391-08 TCGA-4Z-AA81-10A-01D-A394-08 g.chr13:31231955G>A c.1741G>A c.(1741-1743)Gac>Aac p.D581N BLCA 13 31232303 31232303 + Missense_Mutation SNP G G A TCGA-E7-A541-01A-11D-A26M-08 TCGA-E7-A541-10A-01D-A26K-08 g.chr13:31232303G>A c.2089G>A c.(2089-2091)Gag>Aag p.E697K BLCA 13 31232711 31232711 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr13:31232711C>T c.2497C>T c.(2497-2499)Cca>Tca p.P833S BLCA 13 31232961 31232961 + Missense_Mutation SNP G G A TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr13:31232961G>A c.2747G>A c.(2746-2748)cGa>cAa p.R916Q BLCA 13 31233420 31233420 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr13:31233420C>T c.3206C>T c.(3205-3207)tCa>tTa p.S1069L BLCA 13 31233466 31233466 + Silent SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr13:31233466C>T c.3252C>T c.(3250-3252)ttC>ttT p.F1084F BRCA 13 31195310 31195310 + Silent SNP G G A TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 g.chr13:31195310G>A c.33G>A c.(31-33)ttG>ttA p.L11L BRCA 13 31205015 31205015 + Missense_Mutation SNP C C A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr13:31205015C>A c.272C>A c.(271-273)tCt>tAt p.S91Y BRCA 13 31205227 31205227 + Missense_Mutation SNP C C A TCGA-BH-A18R-01A-11D-A12B-09 TCGA-BH-A18R-11A-42D-A12B-09 g.chr13:31205227C>A c.484C>A c.(484-486)Cca>Aca p.P162T BRCA 13 31205414 31205414 + Missense_Mutation SNP C C A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 g.chr13:31205414C>A c.671C>A c.(670-672)gCt>gAt p.A224D BRCA 13 31205503 31205503 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr13:31205503A>C c.760A>C c.(760-762)Acc>Ccc p.T254P BRCA 13 31221139 31221139 + Missense_Mutation SNP G G T TCGA-AN-A04D-01A-21W-A050-09 TCGA-AN-A04D-10A-01W-A055-09 g.chr13:31221139G>T c.1183G>T c.(1183-1185)Ggt>Tgt p.G395C BRCA 13 31231753 31231753 + Silent SNP A A G TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 g.chr13:31231753A>G c.1539A>G c.(1537-1539)ccA>ccG p.P513P BRCA 13 31232168 31232168 + Missense_Mutation SNP A A G TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 g.chr13:31232168A>G c.1954A>G c.(1954-1956)Ata>Gta p.I652V BRCA 13 31232435 31232435 + Missense_Mutation SNP T T C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 g.chr13:31232435T>C c.2221T>C c.(2221-2223)Tca>Cca p.S741P BRCA 13 31232560 31232561 + Frame_Shift_Ins INS - - G TCGA-A8-A07P-01A-11W-A019-09 TCGA-A8-A07P-10A-01W-A021-09 g.chr13:31232560_31232561insG c.2346_2347insG c.(2347-2349)atafs p.I783fs BRCA 13 31232835 31232835 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 g.chr13:31232835C>T c.2621C>T c.(2620-2622)tCa>tTa p.S874L BRCA 13 31233065 31233065 + Missense_Mutation SNP G G A TCGA-AO-A0J9-01A-11W-A050-09 TCGA-AO-A0J9-10A-01W-A055-09 g.chr13:31233065G>A c.2851G>A c.(2851-2853)Gag>Aag p.E951K BRCA 13 31233336 31233336 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 g.chr13:31233336C>G c.3122C>G c.(3121-3123)tCt>tGt p.S1041C BRCA 13 31233466 31233466 + Silent SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr13:31233466C>T c.3252C>T c.(3250-3252)ttC>ttT p.F1084F BRCA 13 31233476 31233476 + Silent SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 g.chr13:31233476C>T c.3262C>T c.(3262-3264)Ctg>Ttg p.L1088L CESC 13 31205020 31205020 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 g.chr13:31205020G>A c.277G>A c.(277-279)Gat>Aat p.D93N CESC 13 31205523 31205523 + Silent SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 g.chr13:31205523G>A c.780G>A c.(778-780)tcG>tcA p.S260S CESC 13 31205523 31205523 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 g.chr13:31205523G>A c.780G>A c.(778-780)tcG>tcA p.S260S CESC 13 31205523 31205523 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 g.chr13:31205523G>A c.780G>A c.(778-780)tcG>tcA p.S260S CESC 13 31221109 31221109 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 g.chr13:31221109G>A c.1153G>A c.(1153-1155)Gag>Aag p.E385K CESC 13 31227300 31227300 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 g.chr13:31227300C>T c.1254C>T c.(1252-1254)ttC>ttT p.F418F CESC 13 31232305 31232305 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr13:31232305G>A c.2091G>A c.(2089-2091)gaG>gaA p.E697E CESC 13 31232650 31232650 + Silent SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 g.chr13:31232650C>A c.2436C>A c.(2434-2436)tcC>tcA p.S812S CESC 13 31232866 31232866 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr13:31232866G>C c.2652G>C c.(2650-2652)caG>caC p.Q884H CHOL 13 31205128 31205128 + Missense_Mutation SNP A A G TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr13:31205128A>G c.385A>G c.(385-387)Att>Gtt p.I129V CHOL 13 31205413 31205413 + Missense_Mutation SNP G G T TCGA-W5-AA31-01A-11D-A417-09 TCGA-W5-AA31-10A-01D-A41A-09 g.chr13:31205413G>T c.670G>T c.(670-672)Gct>Tct p.A224S COAD 13 31205015 31205015 + Missense_Mutation SNP C C A TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr13:31205015C>A c.272C>A c.(271-273)tCt>tAt p.S91Y COAD 13 31205223 31205223 + Silent SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr13:31205223G>A c.480G>A c.(478-480)caG>caA p.Q160Q COAD 13 31205574 31205574 + Missense_Mutation SNP T T A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr13:31205574T>A c.831T>A c.(829-831)aaT>aaA p.N277K COAD 13 31231710 31231710 + Missense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr13:31231710G>T c.1496G>T c.(1495-1497)aGa>aTa p.R499I COAD 13 31231902 31231902 + Missense_Mutation SNP A A G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr13:31231902A>G c.1688A>G c.(1687-1689)gAc>gGc p.D563G COAD 13 31232713 31232713 + Silent SNP A A G TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr13:31232713A>G c.2499A>G c.(2497-2499)ccA>ccG p.P833P COAD 13 31232879 31232879 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:31232879C>T c.2665C>T c.(2665-2667)Cgt>Tgt p.R889C COAD 13 31232879 31232879 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr13:31232879C>T c.2665C>T c.(2665-2667)Cgt>Tgt p.R889C COAD 13 31232891 31232891 + Missense_Mutation SNP C C T TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr13:31232891C>T c.2677C>T c.(2677-2679)Cgt>Tgt p.R893C COAD 13 31233376 31233376 + Missense_Mutation SNP G G T TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr13:31233376G>T c.3162G>T c.(3160-3162)gaG>gaT p.E1054D COADREAD 13 31205015 31205015 + Missense_Mutation SNP C C A TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr13:31205015C>A c.272C>A c.(271-273)tCt>tAt p.S91Y COADREAD 13 31205223 31205223 + Silent SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr13:31205223G>A c.480G>A c.(478-480)caG>caA p.Q160Q COADREAD 13 31205574 31205574 + Missense_Mutation SNP T T A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr13:31205574T>A c.831T>A c.(829-831)aaT>aaA p.N277K COADREAD 13 31216867 31216867 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:31216867C>T c.1085C>T c.(1084-1086)tCg>tTg p.S362L COADREAD 13 31231710 31231710 + Missense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr13:31231710G>T c.1496G>T c.(1495-1497)aGa>aTa p.R499I COADREAD 13 31231902 31231902 + Missense_Mutation SNP A A G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr13:31231902A>G c.1688A>G c.(1687-1689)gAc>gGc p.D563G COADREAD 13 31232713 31232713 + Silent SNP A A G TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr13:31232713A>G c.2499A>G c.(2497-2499)ccA>ccG p.P833P COADREAD 13 31232744 31232744 + Missense_Mutation SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr13:31232744G>A c.2530G>A c.(2530-2532)Gct>Act p.A844T COADREAD 13 31232879 31232879 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:31232879C>T c.2665C>T c.(2665-2667)Cgt>Tgt p.R889C COADREAD 13 31232879 31232879 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr13:31232879C>T c.2665C>T c.(2665-2667)Cgt>Tgt p.R889C COADREAD 13 31232891 31232891 + Missense_Mutation SNP C C T TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr13:31232891C>T c.2677C>T c.(2677-2679)Cgt>Tgt p.R893C COADREAD 13 31233051 31233051 + Missense_Mutation SNP T T C TCGA-AG-3609-01A-02W-0833-10 TCGA-AG-3609-10A-01W-0833-10 g.chr13:31233051T>C c.2837T>C c.(2836-2838)aTt>aCt p.I946T COADREAD 13 31233376 31233376 + Missense_Mutation SNP G G T TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr13:31233376G>T c.3162G>T c.(3160-3162)gaG>gaT p.E1054D DLBC 13 31231778 31231778 + Missense_Mutation SNP G G C TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr13:31231778G>C c.1564G>C c.(1564-1566)Gct>Cct p.A522P ESCA 13 31232940 31232940 + Frame_Shift_Del DEL C C - TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 g.chr13:31232940delC c.2726delC c.(2725-2727)tccfs p.S909fs ESCA 13 31233169 31233169 + Silent SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 g.chr13:31233169G>T c.2955G>T c.(2953-2955)ctG>ctT p.L985L GBM 13 31232152 31232152 + Silent SNP A A G TCGA-76-4932-01A-01D-1486-08 TCGA-76-4932-10A-01D-1486-08 g.chr13:31232152A>G c.1938A>G c.(1936-1938)caA>caG p.Q646Q GBMLGG 13 31232152 31232152 + Silent SNP A A G TCGA-76-4932-01A-01D-1486-08 TCGA-76-4932-10A-01D-1486-08 g.chr13:31232152A>G c.1938A>G c.(1936-1938)caA>caG p.Q646Q HNSC 13 31205139 31205139 + Silent SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 g.chr13:31205139C>T c.396C>T c.(394-396)gaC>gaT p.D132D HNSC 13 31232715 31232715 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr13:31232715C>T c.2501C>T c.(2500-2502)tCg>tTg p.S834L HNSC 13 31233367 31233367 + Silent SNP A A G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 g.chr13:31233367A>G c.3153A>G c.(3151-3153)ttA>ttG p.L1051L HNSC 13 31233392 31233392 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 g.chr13:31233392G>C c.3178G>C c.(3178-3180)Gat>Cat p.D1060H KIPAN 13 31232080 31232081 + Frame_Shift_Del DEL CA CA - TCGA-B0-5119-01A-02D-1421-08 TCGA-B0-5119-11A-01D-1421-08 g.chr13:31232080_31232081delCA c.1866_1867delCA c.(1864-1869)accaatfs p.N623fs KIPAN 13 31233386 31233386 + Missense_Mutation SNP A A C TCGA-G7-6796-01A-11D-1961-08 TCGA-G7-6796-10A-01D-1962-08 g.chr13:31233386A>C c.3172A>C c.(3172-3174)Aag>Cag p.K1058Q KIRC 13 31232080 31232081 + Frame_Shift_Del DEL CA CA - TCGA-B0-5119-01A-02D-1421-08 TCGA-B0-5119-11A-01D-1421-08 g.chr13:31232080_31232081delCA c.1866_1867delCA c.(1864-1869)accaatfs p.N623fs KIRP 13 31233386 31233386 + Missense_Mutation SNP A A C TCGA-G7-6796-01A-11D-1961-08 TCGA-G7-6796-10A-01D-1962-08 g.chr13:31233386A>C c.3172A>C c.(3172-3174)Aag>Cag p.K1058Q LIHC 13 31195968 31195968 + Missense_Mutation SNP A A G TCGA-DD-AAEG-01A-11D-A38X-10 TCGA-DD-AAEG-10A-01D-A38X-10 g.chr13:31195968A>G c.167A>G c.(166-168)aAa>aGa p.K56R LIHC 13 31205167 31205167 + Missense_Mutation SNP A A T TCGA-DD-A4NF-01A-11D-A27I-10 TCGA-DD-A4NF-10A-01D-A27I-10 g.chr13:31205167A>T c.424A>T c.(424-426)Aat>Tat p.N142Y LIHC 13 31205172 31205172 + Silent SNP A A G TCGA-DD-AACZ-01A-11D-A40R-10 TCGA-DD-AACZ-10A-01D-A40U-10 g.chr13:31205172A>G c.429A>G c.(427-429)ggA>ggG p.G143G LIHC 13 31232186 31232186 + Missense_Mutation SNP G G T TCGA-CC-A5UD-01A-11D-A28X-10 TCGA-CC-A5UD-10A-01D-A28X-10 g.chr13:31232186G>T c.1972G>T c.(1972-1974)Gtt>Ttt p.V658F LIHC 13 31232538 31232538 + Missense_Mutation SNP T T C TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr13:31232538T>C c.2324T>C c.(2323-2325)gTt>gCt p.V775A LUAD 13 31205581 31205581 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 g.chr13:31205581C>G c.838C>G c.(838-840)Cta>Gta p.L280V LUAD 13 31221131 31221131 + Missense_Mutation SNP C C G TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr13:31221131C>G c.1175C>G c.(1174-1176)gCc>gGc p.A392G LUAD 13 31221140 31221140 + Missense_Mutation SNP G G T TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr13:31221140G>T c.1184G>T c.(1183-1185)gGt>gTt p.G395V LUAD 13 31231663 31231663 + Silent SNP G G A TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr13:31231663G>A c.1449G>A c.(1447-1449)aaG>aaA p.K483K LUAD 13 31232310 31232310 + Missense_Mutation SNP A A T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 g.chr13:31232310A>T c.2096A>T c.(2095-2097)gAc>gTc p.D699V LUAD 13 31232392 31232392 + Missense_Mutation SNP G G T TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr13:31232392G>T c.2178G>T c.(2176-2178)aaG>aaT p.K726N LUAD 13 31232508 31232508 + Missense_Mutation SNP G G T TCGA-75-5126-01A-01D-1753-08 TCGA-75-5126-10A-01D-1753-08 g.chr13:31232508G>T c.2294G>T c.(2293-2295)aGc>aTc p.S765I LUAD 13 31232520 31232520 + Missense_Mutation SNP C C A TCGA-55-8208-01A-11D-2238-08 TCGA-55-8208-10A-01D-2238-08 g.chr13:31232520C>A c.2306C>A c.(2305-2307)tCt>tAt p.S769Y LUAD 13 31233061 31233061 + Silent SNP C C T TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr13:31233061C>T c.2847C>T c.(2845-2847)gcC>gcT p.A949A LUSC 13 31227421 31227421 + Missense_Mutation SNP A A T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 g.chr13:31227421A>T c.1375A>T c.(1375-1377)Aca>Tca p.T459S LUSC 13 31231868 31231868 + Missense_Mutation SNP G G C TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 g.chr13:31231868G>C c.1654G>C c.(1654-1656)Gat>Cat p.D552H LUSC 13 31233097 31233097 + Silent SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr13:31233097C>T c.2883C>T c.(2881-2883)tcC>tcT p.S961S OV 13 31205033 31205033 + Missense_Mutation SNP G G A TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 g.chr13:31205033G>A c.290G>A c.(289-291)tGt>tAt p.C97Y OV 13 31205140 31205140 + Missense_Mutation SNP G G A TCGA-36-2548-01A-01D-1526-09 TCGA-36-2548-10A-01D-1526-09 g.chr13:31205140G>A c.397G>A c.(397-399)Ggt>Agt p.G133S PAAD 13 31205600 31205600 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr13:31205600G>T c.857G>T c.(856-858)aGt>aTt p.S286I PAAD 13 31232400 31232400 + Missense_Mutation SNP A A C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr13:31232400A>C c.2186A>C c.(2185-2187)gAa>gCa p.E729A PAAD 13 31232733 31232733 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr13:31232733C>T c.2519C>T c.(2518-2520)gCc>gTc p.A840V PRAD 13 31205109 31205110 + Frame_Shift_Ins INS - - A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr13:31205109_31205110insA c.366_367insA c.(367-369)aaafs p.K123fs PRAD 13 31227350 31227350 + Missense_Mutation SNP C C T TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr13:31227350C>T c.1304C>T c.(1303-1305)gCa>gTa p.A435V READ 13 31216867 31216867 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:31216867C>T c.1085C>T c.(1084-1086)tCg>tTg p.S362L READ 13 31232744 31232744 + Missense_Mutation SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr13:31232744G>A c.2530G>A c.(2530-2532)Gct>Act p.A844T READ 13 31233051 31233051 + Missense_Mutation SNP T T C TCGA-AG-3609-01A-02W-0833-10 TCGA-AG-3609-10A-01W-0833-10 g.chr13:31233051T>C c.2837T>C c.(2836-2838)aTt>aCt p.I946T SKCM 13 31195958 31195958 + Missense_Mutation SNP G G C TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr13:31195958G>C c.157G>C c.(157-159)Gga>Cga p.G53R SKCM 13 31227350 31227350 + Missense_Mutation SNP C C G TCGA-DA-A1I0-06A-11D-A20D-08 TCGA-DA-A1I0-10B-01D-A20D-08 g.chr13:31227350C>G c.1304C>G c.(1303-1305)gCa>gGa p.A435G SKCM 13 31231755 31231755 + Missense_Mutation SNP T T C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 g.chr13:31231755T>C c.1541T>C c.(1540-1542)cTt>cCt p.L514P SKCM 13 31232501 31232501 + Silent SNP T T C TCGA-ER-A19S-06A-11D-A196-08 TCGA-ER-A19S-10A-01D-A198-08 g.chr13:31232501T>C c.2287T>C c.(2287-2289)Tta>Cta p.L763L SKCM 13 31232685 31232685 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr13:31232685C>T c.2471C>T c.(2470-2472)cCc>cTc p.P824L SKCM 13 31232917 31232917 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 g.chr13:31232917G>A c.2703G>A c.(2701-2703)aaG>aaA p.K901K SKCM 13 31233132 31233132 + Missense_Mutation SNP C C G TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr13:31233132C>G c.2918C>G c.(2917-2919)gCg>gGg p.A973G SKCM 13 31233315 31233315 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 g.chr13:31233315C>T c.3101C>T c.(3100-3102)cCa>cTa p.P1034L SKCM 13 31233414 31233414 + Missense_Mutation SNP C C T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr13:31233414C>T c.3200C>T c.(3199-3201)tCc>tTc p.S1067F

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 13 31205242 31205242 single base substitution G C exon_variant BLCA-CN 13 31205242 31205242 single base substitution G C missense_variant D167H 499G>C BLCA-CN 13 31227328 31227328 single base substitution C G missense_variant Q428E 1282C>G BLCA-US 13 31205593 31205593 single base substitution C T exon_variant BLCA-US 13 31205593 31205593 single base substitution C T stop_gained Q284* 850C>T BLCA-US 13 31211905 31211905 single base substitution C T missense_variant S298L 893C>T BLCA-US 13 31231851 31231851 single base substitution C T missense_variant S546L 1637C>T BLCA-US 13 31232711 31232711 single base substitution C T missense_variant P833S 2497C>T BLCA-US 13 31233420 31233420 single base substitution C T missense_variant S1069L 3206C>T BRCA-EU 13 31188531 31188531 single base substitution C G upstream_gene_variant BRCA-EU 13 31188781 31188781 single base substitution C G upstream_gene_variant BRCA-EU 13 31193113 31193113 single base substitution T G intron_variant BRCA-EU 13 31193320 31193320 single base substitution T A intron_variant BRCA-EU 13 31193448 31193448 single base substitution C G intron_variant BRCA-EU 13 31193552 31193552 insertion of <=200bp - A intron_variant BRCA-EU 13 31194045 31194046 deletion of <=200bp TT - intron_variant BRCA-EU 13 31195769 31195769 single base substitution G C intron_variant BRCA-EU 13 31196196 31196196 single base substitution C T intron_variant BRCA-EU 13 31197395 31197395 single base substitution G A intron_variant BRCA-EU 13 31197540 31197540 single base substitution C T intron_variant BRCA-EU 13 31197755 31197755 single base substitution C G intron_variant BRCA-EU 13 31199122 31199122 single base substitution G A intron_variant BRCA-EU 13 31199224 31199224 deletion of <=200bp T - intron_variant BRCA-EU 13 31199783 31199783 single base substitution A G intron_variant BRCA-EU 13 31200678 31200678 single base substitution A T intron_variant BRCA-EU 13 31201219 31201219 single base substitution A G intron_variant BRCA-EU 13 31201617 31201617 single base substitution T C intron_variant BRCA-EU 13 31201793 31201793 deletion of <=200bp T - intron_variant BRCA-EU 13 31202376 31202376 single base substitution A T intron_variant BRCA-EU 13 31202768 31202768 single base substitution A T intron_variant BRCA-EU 13 31203128 31203128 single base substitution C G intron_variant BRCA-EU 13 31203178 31203178 single base substitution G A intron_variant BRCA-EU 13 31203624 31203624 deletion of <=200bp A - intron_variant BRCA-EU 13 31204101 31204101 insertion of <=200bp - TAT intron_variant BRCA-EU 13 31205995 31205995 single base substitution C T downstream_gene_variant BRCA-EU 13 31205995 31205995 single base substitution C T intron_variant BRCA-EU 13 31206099 31206099 insertion of <=200bp - T downstream_gene_variant BRCA-EU 13 31206099 31206099 insertion of <=200bp - T intron_variant BRCA-EU 13 31206643 31206643 single base substitution C G downstream_gene_variant BRCA-EU 13 31206643 31206643 single base substitution C G intron_variant BRCA-EU 13 31206884 31206884 single base substitution G A downstream_gene_variant BRCA-EU 13 31206884 31206884 single base substitution G A intron_variant BRCA-EU 13 31207292 31207292 single base substitution G C downstream_gene_variant BRCA-EU 13 31207292 31207292 single base substitution G C intron_variant BRCA-EU 13 31208519 31208519 single base substitution C T downstream_gene_variant BRCA-EU 13 31208519 31208519 single base substitution C T intron_variant BRCA-EU 13 31208558 31208558 single base substitution G T downstream_gene_variant BRCA-EU 13 31208558 31208558 single base substitution G T intron_variant BRCA-EU 13 31211826 31211826 single base substitution C G intron_variant BRCA-EU 13 31213109 31213109 single base substitution C G intron_variant BRCA-EU 13 31217010 31217010 single base substitution C T intron_variant BRCA-EU 13 31217018 31217018 single base substitution C G intron_variant BRCA-EU 13 31217738 31217738 insertion of <=200bp - C intron_variant BRCA-EU 13 31218579 31218579 single base substitution C A intron_variant BRCA-EU 13 31219274 31219274 single base substitution C T intron_variant BRCA-EU 13 31220165 31220165 single base substitution T G intron_variant BRCA-EU 13 31220441 31220441 insertion of <=200bp - TTT intron_variant BRCA-EU 13 31221811 31221811 single base substitution C T intron_variant BRCA-EU 13 31222047 31222047 single base substitution C G intron_variant BRCA-EU 13 31222480 31222480 deletion of <=200bp T - intron_variant BRCA-EU 13 31223491 31223491 single base substitution A G intron_variant BRCA-EU 13 31224854 31224854 single base substitution G A intron_variant BRCA-EU 13 31224991 31224991 single base substitution G A intron_variant BRCA-EU 13 31225242 31225242 single base substitution T C intron_variant BRCA-EU 13 31225727 31225727 single base substitution G A intron_variant BRCA-EU 13 31227527 31227527 deletion of <=200bp A - intron_variant BRCA-EU 13 31227729 31227729 deletion of <=200bp T - intron_variant BRCA-EU 13 31228301 31228301 single base substitution C T intron_variant BRCA-EU 13 31229122 31229122 single base substitution C T intron_variant BRCA-EU 13 31231024 31231024 single base substitution A T intron_variant BRCA-EU 13 31231916 31231916 single base substitution C A missense_variant H568N 1702C>A BRCA-EU 13 31233234 31233234 single base substitution T C missense_variant V1007A 3020T>C BRCA-EU 13 31234231 31234231 single base substitution C T downstream_gene_variant BRCA-EU 13 31234427 31234427 single base substitution C T downstream_gene_variant BRCA-EU 13 31234742 31234742 single base substitution C T downstream_gene_variant BRCA-EU 13 31235476 31235476 deletion of <=200bp A - downstream_gene_variant BRCA-EU 13 31236379 31236379 single base substitution G T downstream_gene_variant BRCA-EU 13 31238006 31238006 single base substitution C A downstream_gene_variant BRCA-FR 13 31188531 31188531 single base substitution C G upstream_gene_variant BRCA-FR 13 31205995 31205995 single base substitution C T downstream_gene_variant BRCA-FR 13 31205995 31205995 single base substitution C T intron_variant BRCA-FR 13 31207292 31207292 single base substitution G C downstream_gene_variant BRCA-FR 13 31207292 31207292 single base substitution G C intron_variant BRCA-FR 13 31208558 31208558 single base substitution G T downstream_gene_variant BRCA-FR 13 31208558 31208558 single base substitution G T intron_variant BRCA-FR 13 31210709 31210709 single base substitution C A intron_variant BRCA-FR 13 31216925 31216925 single base substitution C T intron_variant BRCA-FR 13 31217010 31217010 single base substitution C T intron_variant BRCA-FR 13 31217018 31217018 single base substitution C G intron_variant BRCA-FR 13 31224854 31224854 single base substitution G A intron_variant BRCA-UK 13 31193320 31193320 single base substitution T A intron_variant BRCA-UK 13 31193448 31193448 single base substitution C G intron_variant BRCA-UK 13 31197395 31197395 single base substitution G A intron_variant BRCA-UK 13 31218579 31218579 single base substitution C A intron_variant BRCA-US 13 31195310 31195310 single base substitution G A intron_variant BRCA-US 13 31195310 31195310 single base substitution G A synonymous_variant L11L 33G>A BRCA-US 13 31205015 31205015 single base substitution C A exon_variant BRCA-US 13 31205015 31205015 single base substitution C A missense_variant S91Y 272C>A BRCA-US 13 31205227 31205227 single base substitution C A exon_variant BRCA-US 13 31205227 31205227 single base substitution C A missense_variant P162T 484C>A BRCA-US 13 31205414 31205414 single base substitution C A exon_variant BRCA-US 13 31205414 31205414 single base substitution C A missense_variant A224D 671C>A BRCA-US 13 31205503 31205503 single base substitution A C exon_variant BRCA-US 13 31205503 31205503 single base substitution A C missense_variant T254P 760A>C BRCA-US 13 31221139 31221139 single base substitution G T missense_variant G395C 1183G>T BRCA-US 13 31231753 31231753 single base substitution A G synonymous_variant P513P 1539A>G BRCA-US 13 31232168 31232168 single base substitution A G missense_variant I652V 1954A>G BRCA-US 13 31232435 31232435 single base substitution T C missense_variant S741P 2221T>C BRCA-US 13 31232560 31232560 insertion of <=200bp - G frameshift_variant T782T? BRCA-US 13 31233065 31233065 single base substitution G A missense_variant E951K 2851G>A BRCA-US 13 31233466 31233466 single base substitution C T synonymous_variant F1084F 3252C>T BRCA-US 13 31233476 31233476 single base substitution C T synonymous_variant L1088L 3262C>T BTCA-JP 13 31195420 31195420 single base substitution T C intron_variant BTCA-JP 13 31204869 31204869 single base substitution A G intron_variant BTCA-JP 13 31227248 31227248 single base substitution A G intron_variant BTCA-JP 13 31233049 31233049 single base substitution A G synonymous_variant P945P 2835A>G CESC-US 13 31205020 31205020 single base substitution G A exon_variant CESC-US 13 31205020 31205020 single base substitution G A missense_variant D93N 277G>A CESC-US 13 31205523 31205523 single base substitution G A exon_variant CESC-US 13 31205523 31205523 single base substitution G A synonymous_variant S260S 780G>A CESC-US 13 31221109 31221109 single base substitution G A missense_variant E385K 1153G>A CESC-US 13 31227300 31227300 single base substitution C T synonymous_variant F418F 1254C>T CESC-US 13 31232305 31232305 single base substitution G A synonymous_variant E697E 2091G>A CESC-US 13 31232650 31232650 single base substitution C A synonymous_variant S812S 2436C>A CESC-US 13 31232866 31232866 single base substitution G C missense_variant Q884H 2652G>C CLLE-ES 13 31213379 31213379 single base substitution A G intron_variant COAD-US 13 31205015 31205015 single base substitution C A exon_variant COAD-US 13 31205015 31205015 single base substitution C A missense_variant S91Y 272C>A COAD-US 13 31232879 31232879 single base substitution C T missense_variant R889C 2665C>T COAD-US 13 31232891 31232891 single base substitution C T missense_variant R893C 2677C>T COCA-CN 13 31195630 31195630 single base substitution A G intron_variant COCA-CN 13 31205223 31205223 single base substitution G T exon_variant COCA-CN 13 31205223 31205223 single base substitution G T missense_variant Q160H 480G>T COCA-CN 13 31205545 31205545 single base substitution C A exon_variant COCA-CN 13 31205545 31205545 single base substitution C A synonymous_variant R268R 802C>A COCA-CN 13 31221210 31221210 single base substitution C G intron_variant COCA-CN 13 31231739 31231739 single base substitution G T missense_variant A509S 1525G>T COCA-CN 13 31232832 31232832 single base substitution C A missense_variant S873Y 2618C>A COCA-CN 13 31232960 31232960 single base substitution C T stop_gained R916* 2746C>T EOPC-DE 13 31204186 31204186 single base substitution T C intron_variant ESAD-UK 13 31191002 31191002 single base substitution C A upstream_gene_variant ESAD-UK 13 31195292 31195292 single base substitution G T intron_variant ESAD-UK 13 31195292 31195292 single base substitution G T synonymous_variant P5P 15G>T ESAD-UK 13 31196343 31196343 single base substitution T C intron_variant ESAD-UK 13 31197744 31197744 single base substitution G A intron_variant ESAD-UK 13 31198600 31198600 single base substitution T A intron_variant ESAD-UK 13 31200104 31200104 deletion of <=200bp T - intron_variant ESAD-UK 13 31202445 31202445 single base substitution A C intron_variant ESAD-UK 13 31204153 31204153 single base substitution C T intron_variant ESAD-UK 13 31210253 31210253 single base substitution T G downstream_gene_variant ESAD-UK 13 31210253 31210253 single base substitution T G intron_variant ESAD-UK 13 31210704 31210704 single base substitution T C intron_variant ESAD-UK 13 31210881 31210881 single base substitution C T intron_variant ESAD-UK 13 31211880 31211880 single base substitution G C splice_acceptor_variant ESAD-UK 13 31212275 31212275 single base substitution G A intron_variant ESAD-UK 13 31215477 31215477 single base substitution G A intron_variant ESAD-UK 13 31220359 31220359 single base substitution G T intron_variant ESAD-UK 13 31222449 31222449 single base substitution C T intron_variant ESAD-UK 13 31224120 31224120 single base substitution G T intron_variant ESAD-UK 13 31224855 31224855 single base substitution G A intron_variant ESAD-UK 13 31226315 31226315 deletion of <=200bp A - intron_variant ESAD-UK 13 31230235 31230235 single base substitution C G intron_variant ESAD-UK 13 31233732 31233732 single base substitution C A downstream_gene_variant ESAD-UK 13 31234132 31234132 single base substitution C T downstream_gene_variant ESAD-UK 13 31235461 31235461 single base substitution A G downstream_gene_variant ESAD-UK 13 31237568 31237568 single base substitution A C downstream_gene_variant ESAD-UK 13 31238452 31238452 single base substitution C T downstream_gene_variant ESAD-UK 13 31238611 31238611 single base substitution A T downstream_gene_variant ESCA-CN 13 31205522 31205522 single base substitution C G exon_variant ESCA-CN 13 31205522 31205522 single base substitution C G missense_variant S260W 779C>G GBM-US 13 31232152 31232152 single base substitution A G synonymous_variant Q646Q 1938A>G KIRC-US 13 31232080 31232081 deletion of <=200bp CA - frameshift_variant TN622 KIRP-US 13 31233386 31233386 single base substitution A C missense_variant K1058Q 3172A>C LAML-KR 13 31231806 31231806 single base substitution T C missense_variant L531S 1592T>C LAML-KR 13 31233063 31233063 single base substitution G A missense_variant S950N 2849G>A LICA-CN 13 31232398 31232398 single base substitution A G synonymous_variant K728K 2184A>G LICA-FR 13 31191625 31191625 single base substitution A C upstream_gene_variant LICA-FR 13 31202637 31202637 single base substitution T C intron_variant LICA-FR 13 31203980 31203980 single base substitution A G intron_variant LICA-FR 13 31205379 31205379 single base substitution G T exon_variant LICA-FR 13 31205379 31205379 single base substitution G T missense_variant M212I 636G>T LICA-FR 13 31205573 31205573 single base substitution A G exon_variant LICA-FR 13 31205573 31205573 single base substitution A G missense_variant N277S 830A>G LICA-FR 13 31218530 31218530 single base substitution A G intron_variant LICA-FR 13 31233195 31233195 single base substitution G A missense_variant R994K 2981G>A LIHC-US 13 31205167 31205167 single base substitution A T exon_variant LIHC-US 13 31205167 31205167 single base substitution A T missense_variant N142Y 424A>T LIHC-US 13 31232538 31232538 single base substitution T C missense_variant V775A 2324T>C LINC-JP 13 31191065 31191065 single base substitution T G upstream_gene_variant LINC-JP 13 31204886 31204886 single base substitution A G intron_variant LINC-JP 13 31217737 31217737 single base substitution A C intron_variant LINC-JP 13 31229281 31229281 single base substitution T A intron_variant LINC-JP 13 31232158 31232158 single base substitution A G synonymous_variant Q648Q 1944A>G LIRI-JP 13 31188000 31188000 single base substitution T C upstream_gene_variant LIRI-JP 13 31190107 31190107 insertion of <=200bp - T upstream_gene_variant LIRI-JP 13 31190981 31190981 single base substitution T C upstream_gene_variant LIRI-JP 13 31194296 31194296 single base substitution A G intron_variant LIRI-JP 13 31196942 31196942 single base substitution A G intron_variant LIRI-JP 13 31197181 31197181 single base substitution G T intron_variant LIRI-JP 13 31198090 31198090 single base substitution A G intron_variant LIRI-JP 13 31200062 31200062 single base substitution G A intron_variant LIRI-JP 13 31200781 31200781 single base substitution A T intron_variant LIRI-JP 13 31201568 31201568 single base substitution G A intron_variant LIRI-JP 13 31203389 31203389 single base substitution C A intron_variant LIRI-JP 13 31207176 31207176 single base substitution A G downstream_gene_variant LIRI-JP 13 31207176 31207176 single base substitution A G intron_variant LIRI-JP 13 31207948 31207948 single base substitution A G downstream_gene_variant LIRI-JP 13 31207948 31207948 single base substitution A G intron_variant LIRI-JP 13 31208580 31208580 single base substitution G T downstream_gene_variant LIRI-JP 13 31208580 31208580 single base substitution G T intron_variant LIRI-JP 13 31209876 31209876 single base substitution G A downstream_gene_variant LIRI-JP 13 31209876 31209876 single base substitution G A intron_variant LIRI-JP 13 31210002 31210002 single base substitution A G downstream_gene_variant LIRI-JP 13 31210002 31210002 single base substitution A G intron_variant LIRI-JP 13 31214601 31214601 single base substitution T G intron_variant LIRI-JP 13 31215012 31215012 single base substitution A G intron_variant LIRI-JP 13 31215676 31215676 single base substitution G A intron_variant LIRI-JP 13 31216079 31216079 single base substitution T A intron_variant LIRI-JP 13 31216196 31216196 single base substitution A G intron_variant LIRI-JP 13 31219096 31219096 single base substitution A G intron_variant LIRI-JP 13 31222744 31222744 single base substitution C G intron_variant LIRI-JP 13 31223858 31223858 single base substitution C T intron_variant LIRI-JP 13 31224106 31224106 single base substitution A G intron_variant LIRI-JP 13 31229956 31229956 single base substitution A T intron_variant LIRI-JP 13 31230141 31230141 single base substitution G T intron_variant LIRI-JP 13 31230932 31230932 single base substitution G A intron_variant LIRI-JP 13 31231092 31231092 single base substitution C A intron_variant LIRI-JP 13 31231540 31231540 single base substitution A G intron_variant LIRI-JP 13 31233173 31233173 single base substitution G A missense_variant E987K 2959G>A LIRI-JP 13 31236230 31236230 single base substitution G C downstream_gene_variant LIRI-JP 13 31237498 31237498 single base substitution G A downstream_gene_variant LUSC-KR 13 31188942 31188942 single base substitution C T upstream_gene_variant LUSC-KR 13 31191962 31191962 single base substitution T A 5_prime_UTR_variant LUSC-KR 13 31191962 31191962 single base substitution T A exon_variant LUSC-KR 13 31193619 31193619 single base substitution C T intron_variant LUSC-KR 13 31193733 31193733 single base substitution G A intron_variant LUSC-KR 13 31195490 31195490 single base substitution G A intron_variant LUSC-KR 13 31199602 31199602 single base substitution G T intron_variant LUSC-KR 13 31200968 31200968 single base substitution A C intron_variant LUSC-KR 13 31206742 31206742 single base substitution G T downstream_gene_variant LUSC-KR 13 31206742 31206742 single base substitution G T intron_variant LUSC-KR 13 31211854 31211854 single base substitution T C intron_variant LUSC-KR 13 31215280 31215280 single base substitution G C intron_variant LUSC-KR 13 31215825 31215825 single base substitution A C intron_variant LUSC-KR 13 31217025 31217025 single base substitution T C intron_variant LUSC-KR 13 31217707 31217707 single base substitution C T intron_variant LUSC-KR 13 31217737 31217737 single base substitution A C intron_variant LUSC-KR 13 31219660 31219660 single base substitution C G intron_variant LUSC-KR 13 31224242 31224242 single base substitution G T intron_variant LUSC-KR 13 31235281 31235281 single base substitution C G downstream_gene_variant LUSC-US 13 31227421 31227421 single base substitution A T missense_variant T459S 1375A>T LUSC-US 13 31231868 31231868 single base substitution G C missense_variant D552H 1654G>C LUSC-US 13 31233097 31233097 single base substitution C T synonymous_variant S961S 2883C>T MALY-DE 13 31189205 31189205 single base substitution G A upstream_gene_variant MALY-DE 13 31210754 31210754 single base substitution A G intron_variant MALY-DE 13 31210825 31210825 single base substitution A T intron_variant MALY-DE 13 31210840 31210840 single base substitution A G intron_variant MALY-DE 13 31216766 31216766 single base substitution T A splice_region_variant MALY-DE 13 31231618 31231618 single base substitution G A stop_gained W468* 1404G>A MALY-DE 13 31234662 31234662 single base substitution T C downstream_gene_variant MELA-AU 13 31187614 31187614 single base substitution G A upstream_gene_variant MELA-AU 13 31188857 31188857 single base substitution G A upstream_gene_variant MELA-AU 13 31190681 31190681 single base substitution G A upstream_gene_variant MELA-AU 13 31191925 31191925 single base substitution G A 5_prime_UTR_variant MELA-AU 13 31191925 31191925 single base substitution G A exon_variant MELA-AU 13 31192021 31192021 single base substitution G A 5_prime_UTR_variant MELA-AU 13 31192021 31192021 single base substitution G A exon_variant MELA-AU 13 31192022 31192022 single base substitution G A 5_prime_UTR_variant MELA-AU 13 31192022 31192022 single base substitution G A exon_variant MELA-AU 13 31192409 31192409 single base substitution C T intron_variant MELA-AU 13 31193154 31193154 single base substitution T C intron_variant MELA-AU 13 31193406 31193406 single base substitution C T intron_variant MELA-AU 13 31193678 31193678 single base substitution C T intron_variant MELA-AU 13 31193680 31193680 single base substitution C T intron_variant MELA-AU 13 31194343 31194343 single base substitution G A intron_variant MELA-AU 13 31194501 31194501 single base substitution A T intron_variant MELA-AU 13 31194527 31194527 single base substitution C T intron_variant MELA-AU 13 31195212 31195212 single base substitution T C intron_variant MELA-AU 13 31195212 31195212 single base substitution T C splice_region_variant MELA-AU 13 31195291 31195291 single base substitution C T intron_variant MELA-AU 13 31195291 31195291 single base substitution C T missense_variant P5L 14C>T MELA-AU 13 31196655 31196655 single base substitution T C intron_variant MELA-AU 13 31196789 31196789 single base substitution A T intron_variant MELA-AU 13 31197355 31197355 single base substitution C T intron_variant MELA-AU 13 31197503 31197503 single base substitution C T intron_variant MELA-AU 13 31198062 31198062 single base substitution C T intron_variant MELA-AU 13 31198105 31198105 single base substitution T G intron_variant MELA-AU 13 31198230 31198230 single base substitution G A intron_variant MELA-AU 13 31198463 31198463 single base substitution C T intron_variant MELA-AU 13 31198636 31198636 single base substitution C T intron_variant MELA-AU 13 31199231 31199231 single base substitution C T intron_variant MELA-AU 13 31199879 31199879 single base substitution C T intron_variant MELA-AU 13 31200232 31200232 single base substitution C T intron_variant MELA-AU 13 31200306 31200307 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 31200941 31200941 single base substitution C T intron_variant MELA-AU 13 31202236 31202236 single base substitution T C intron_variant MELA-AU 13 31203439 31203439 single base substitution G A intron_variant MELA-AU 13 31203804 31203804 single base substitution C T intron_variant MELA-AU 13 31204237 31204237 single base substitution C T intron_variant MELA-AU 13 31204982 31204982 single base substitution C T exon_variant MELA-AU 13 31204982 31204982 single base substitution C T missense_variant P80L 239C>T MELA-AU 13 31204986 31204986 single base substitution G A exon_variant MELA-AU 13 31204986 31204986 single base substitution G A synonymous_variant L81L 243G>A MELA-AU 13 31205007 31205007 single base substitution C T exon_variant MELA-AU 13 31205007 31205007 single base substitution C T synonymous_variant N88N 264C>T MELA-AU 13 31205228 31205228 single base substitution C T exon_variant MELA-AU 13 31205228 31205228 single base substitution C T missense_variant P162L 485C>T MELA-AU 13 31205246 31205246 single base substitution C T exon_variant MELA-AU 13 31205246 31205246 single base substitution C T missense_variant S168F 503C>T MELA-AU 13 31206067 31206067 single base substitution C T downstream_gene_variant MELA-AU 13 31206067 31206067 single base substitution C T intron_variant MELA-AU 13 31206131 31206131 single base substitution C T downstream_gene_variant MELA-AU 13 31206131 31206131 single base substitution C T intron_variant MELA-AU 13 31206264 31206264 single base substitution C T downstream_gene_variant MELA-AU 13 31206264 31206264 single base substitution C T intron_variant MELA-AU 13 31206838 31206838 single base substitution C T downstream_gene_variant MELA-AU 13 31206838 31206838 single base substitution C T intron_variant MELA-AU 13 31207063 31207063 single base substitution C T downstream_gene_variant MELA-AU 13 31207063 31207063 single base substitution C T intron_variant MELA-AU 13 31207144 31207144 single base substitution C T downstream_gene_variant MELA-AU 13 31207144 31207144 single base substitution C T intron_variant MELA-AU 13 31207412 31207412 single base substitution A T downstream_gene_variant MELA-AU 13 31207412 31207412 single base substitution A T intron_variant MELA-AU 13 31207629 31207629 single base substitution C T downstream_gene_variant MELA-AU 13 31207629 31207629 single base substitution C T intron_variant MELA-AU 13 31207705 31207705 single base substitution C T downstream_gene_variant MELA-AU 13 31207705 31207705 single base substitution C T intron_variant MELA-AU 13 31208839 31208839 single base substitution C T downstream_gene_variant MELA-AU 13 31208839 31208839 single base substitution C T intron_variant MELA-AU 13 31209371 31209372 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 13 31209371 31209372 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 31210049 31210049 single base substitution G A downstream_gene_variant MELA-AU 13 31210049 31210049 single base substitution G A intron_variant MELA-AU 13 31210183 31210183 single base substitution T C downstream_gene_variant MELA-AU 13 31210183 31210183 single base substitution T C intron_variant MELA-AU 13 31210193 31210193 single base substitution G A downstream_gene_variant MELA-AU 13 31210193 31210193 single base substitution G A intron_variant MELA-AU 13 31214279 31214279 single base substitution T A intron_variant MELA-AU 13 31214625 31214625 single base substitution A C intron_variant MELA-AU 13 31215283 31215283 single base substitution G A intron_variant MELA-AU 13 31215933 31215933 single base substitution C T intron_variant MELA-AU 13 31217018 31217018 single base substitution C T intron_variant MELA-AU 13 31217041 31217041 single base substitution G A intron_variant MELA-AU 13 31217745 31217745 single base substitution C T intron_variant MELA-AU 13 31217781 31217781 single base substitution C T intron_variant MELA-AU 13 31217857 31217857 single base substitution C T intron_variant MELA-AU 13 31218872 31218872 single base substitution C T intron_variant MELA-AU 13 31219795 31219795 single base substitution C T intron_variant MELA-AU 13 31220678 31220678 single base substitution C T intron_variant MELA-AU 13 31221826 31221826 single base substitution C T intron_variant MELA-AU 13 31222186 31222186 single base substitution G A intron_variant MELA-AU 13 31223270 31223270 single base substitution T C intron_variant MELA-AU 13 31223292 31223292 single base substitution T A intron_variant MELA-AU 13 31224108 31224108 single base substitution C T intron_variant MELA-AU 13 31224535 31224535 single base substitution G A intron_variant MELA-AU 13 31224867 31224867 single base substitution C T intron_variant MELA-AU 13 31225081 31225081 single base substitution C T intron_variant MELA-AU 13 31225380 31225380 single base substitution C T intron_variant MELA-AU 13 31226664 31226664 single base substitution G T intron_variant MELA-AU 13 31226793 31226793 single base substitution C T intron_variant MELA-AU 13 31227624 31227624 single base substitution C T intron_variant MELA-AU 13 31227842 31227842 single base substitution C T intron_variant MELA-AU 13 31229853 31229853 single base substitution C T intron_variant MELA-AU 13 31230225 31230225 single base substitution C T intron_variant MELA-AU 13 31230409 31230409 single base substitution C T intron_variant MELA-AU 13 31231345 31231345 single base substitution C T intron_variant MELA-AU 13 31231875 31231875 single base substitution C T missense_variant S554L 1661C>T MELA-AU 13 31231891 31231891 single base substitution T C synonymous_variant T559T 1677T>C MELA-AU 13 31232329 31232329 single base substitution C T synonymous_variant F705F 2115C>T MELA-AU 13 31232389 31232389 single base substitution G T missense_variant L725F 2175G>T MELA-AU 13 31232661 31232661 single base substitution G A missense_variant R816H 2447G>A MELA-AU 13 31233414 31233414 single base substitution C T missense_variant S1067F 3200C>T MELA-AU 13 31234261 31234261 single base substitution C T downstream_gene_variant MELA-AU 13 31234346 31234346 single base substitution A G downstream_gene_variant MELA-AU 13 31234814 31234814 single base substitution C T downstream_gene_variant MELA-AU 13 31235163 31235163 single base substitution C T downstream_gene_variant MELA-AU 13 31236752 31236752 single base substitution C T downstream_gene_variant MELA-AU 13 31236947 31236947 single base substitution C T downstream_gene_variant MELA-AU 13 31237181 31237181 single base substitution C T downstream_gene_variant MELA-AU 13 31237731 31237731 single base substitution C T downstream_gene_variant MELA-AU 13 31237744 31237744 single base substitution C T downstream_gene_variant MELA-AU 13 31237807 31237807 single base substitution T A downstream_gene_variant MELA-AU 13 31238275 31238275 single base substitution C T downstream_gene_variant MELA-AU 13 31238467 31238467 single base substitution T C downstream_gene_variant ORCA-IN 13 31194489 31194489 insertion of <=200bp - AA intron_variant ORCA-IN 13 31212531 31212531 single base substitution G A intron_variant ORCA-IN 13 31223999 31223999 single base substitution G A intron_variant ORCA-IN 13 31232832 31232832 single base substitution C A missense_variant S873Y 2618C>A OV-AU 13 31192993 31192993 single base substitution T C intron_variant OV-AU 13 31193015 31193015 single base substitution G C intron_variant OV-AU 13 31201713 31201713 single base substitution G C intron_variant OV-AU 13 31212722 31212722 single base substitution G C intron_variant OV-AU 13 31216571 31216571 single base substitution T C intron_variant OV-AU 13 31221931 31221931 single base substitution G T intron_variant OV-AU 13 31222287 31222287 single base substitution A G intron_variant OV-AU 13 31228352 31228352 single base substitution G C intron_variant OV-AU 13 31228639 31228639 single base substitution G T intron_variant OV-AU 13 31237106 31237106 single base substitution T G downstream_gene_variant OV-AU 13 31237923 31237923 single base substitution T G downstream_gene_variant PACA-AU 13 31205173 31205173 single base substitution G A exon_variant PACA-AU 13 31205173 31205173 single base substitution G A missense_variant E144K 430G>A PACA-AU 13 31215149 31215149 single base substitution C T intron_variant PACA-AU 13 31216909 31216909 insertion of <=200bp - T intron_variant PACA-AU 13 31218431 31218431 single base substitution A T intron_variant PACA-AU 13 31222679 31222679 single base substitution G A intron_variant PACA-AU 13 31224348 31224348 single base substitution G T intron_variant PACA-AU 13 31224725 31224725 single base substitution A G intron_variant PACA-AU 13 31232356 31232356 single base substitution A C missense_variant K714N 2142A>C PACA-AU 13 31232661 31232661 single base substitution G A missense_variant R816H 2447G>A PACA-AU 13 31232738 31232738 single base substitution C G missense_variant P842A 2524C>G PACA-AU 13 31233757 31233757 single base substitution G T downstream_gene_variant PACA-CA 13 31187489 31187489 single base substitution G C upstream_gene_variant PACA-CA 13 31204068 31204068 single base substitution A T intron_variant PACA-CA 13 31205381 31205381 single base substitution C T exon_variant PACA-CA 13 31205381 31205381 single base substitution C T missense_variant P213L 638C>T PACA-CA 13 31206401 31206401 single base substitution C A downstream_gene_variant PACA-CA 13 31206401 31206401 single base substitution C A intron_variant PACA-CA 13 31206877 31206878 deletion of <=200bp TG - downstream_gene_variant PACA-CA 13 31206877 31206878 deletion of <=200bp TG - intron_variant PACA-CA 13 31208059 31208059 single base substitution G A downstream_gene_variant PACA-CA 13 31208059 31208059 single base substitution G A intron_variant PACA-CA 13 31211191 31211191 single base substitution C T intron_variant PACA-CA 13 31211699 31211699 single base substitution G A intron_variant PACA-CA 13 31226871 31226871 single base substitution T C intron_variant PACA-CA 13 31228621 31228621 single base substitution C T intron_variant PACA-CA 13 31230267 31230277 deletion of <=200bp ACCCTCCCTTA - intron_variant PACA-CA 13 31230844 31230844 single base substitution C T intron_variant PACA-CA 13 31234251 31234251 single base substitution G A downstream_gene_variant PAEN-AU 13 31202449 31202449 single base substitution A G intron_variant PBCA-DE 13 31186892 31186892 single base substitution A T upstream_gene_variant PBCA-DE 13 31197564 31197564 single base substitution C T intron_variant PBCA-DE 13 31205545 31205545 single base substitution C T exon_variant PBCA-DE 13 31205545 31205545 single base substitution C T missense_variant R268W 802C>T PBCA-DE 13 31235969 31235971 deletion of <=200bp CAA - downstream_gene_variant PBCA-DE 13 31236762 31236762 single base substitution G A downstream_gene_variant PBCA-DE 13 31237059 31237059 deletion of <=200bp T - downstream_gene_variant PRAD-CA 13 31226076 31226076 single base substitution G A intron_variant PRAD-UK 13 31187560 31187560 single base substitution T A upstream_gene_variant PRAD-UK 13 31210621 31210621 single base substitution T G intron_variant PRAD-UK 13 31212435 31212435 single base substitution A G intron_variant PRAD-UK 13 31227952 31227952 single base substitution T C intron_variant PRAD-US 13 31227350 31227350 single base substitution C T missense_variant A435V 1304C>T READ-US 13 31231786 31231786 single base substitution T G missense_variant S524R 1572T>G READ-US 13 31233400 31233400 single base substitution C T synonymous_variant F1062F 3186C>T RECA-EU 13 31194255 31194255 single base substitution T G intron_variant RECA-EU 13 31201039 31201039 single base substitution T A intron_variant RECA-EU 13 31208857 31208857 single base substitution A G downstream_gene_variant RECA-EU 13 31208857 31208857 single base substitution A G intron_variant RECA-EU 13 31222213 31222213 single base substitution T A intron_variant RECA-EU 13 31234692 31234692 single base substitution G A downstream_gene_variant SKCA-BR 13 31191591 31191591 single base substitution A C upstream_gene_variant SKCA-BR 13 31191762 31191762 single base substitution A C upstream_gene_variant SKCA-BR 13 31191821 31191821 single base substitution C T upstream_gene_variant SKCA-BR 13 31191835 31191835 single base substitution A C exon_variant SKCA-BR 13 31191835 31191835 single base substitution A C upstream_gene_variant SKCA-BR 13 31192022 31192022 single base substitution G A 5_prime_UTR_variant SKCA-BR 13 31192022 31192022 single base substitution G A exon_variant SKCA-BR 13 31192508 31192508 single base substitution C T intron_variant SKCA-BR 13 31193013 31193013 single base substitution C A intron_variant SKCA-BR 13 31196786 31196786 single base substitution T C intron_variant SKCA-BR 13 31202180 31202189 deletion of <=200bp ATTTTTTTTT - intron_variant SKCA-BR 13 31210736 31210736 single base substitution C T intron_variant SKCA-BR 13 31214327 31214327 single base substitution T C intron_variant SKCA-BR 13 31215875 31215875 single base substitution G A intron_variant SKCA-BR 13 31216794 31216794 single base substitution C T missense_variant P338S 1012C>T SKCA-BR 13 31217349 31217349 single base substitution C T intron_variant SKCA-BR 13 31217906 31217906 single base substitution C T intron_variant SKCA-BR 13 31218196 31218196 single base substitution T G intron_variant SKCA-BR 13 31223512 31223512 single base substitution A G intron_variant SKCA-BR 13 31224889 31224889 single base substitution G A intron_variant SKCA-BR 13 31233519 31233519 single base substitution A T 3_prime_UTR_variant SKCA-BR 13 31233537 31233537 single base substitution A C 3_prime_UTR_variant SKCA-BR 13 31234078 31234078 single base substitution T G downstream_gene_variant SKCA-BR 13 31235795 31235795 single base substitution G A downstream_gene_variant SKCA-BR 13 31238309 31238309 single base substitution C T downstream_gene_variant SKCM-US 13 31227350 31227350 single base substitution C G missense_variant A435G 1304C>G SKCM-US 13 31231755 31231755 single base substitution T C missense_variant L514P 1541T>C SKCM-US 13 31232501 31232501 single base substitution T C synonymous_variant L763L 2287T>C SKCM-US 13 31232685 31232685 single base substitution C T missense_variant P824L 2471C>T SKCM-US 13 31232917 31232917 single base substitution G A synonymous_variant K901K 2703G>A SKCM-US 13 31233132 31233132 single base substitution C G missense_variant A973G 2918C>G SKCM-US 13 31233315 31233315 single base substitution C T missense_variant P1034L 3101C>T SKCM-US 13 31233414 31233414 single base substitution C T missense_variant S1067F 3200C>T STAD-US 13 31205139 31205139 single base substitution C T exon_variant STAD-US 13 31205139 31205139 single base substitution C T synonymous_variant D132D 396C>T STAD-US 13 31205337 31205337 single base substitution A C exon_variant STAD-US 13 31205337 31205337 single base substitution A C missense_variant R198S 594A>C STAD-US 13 31205398 31205398 single base substitution A G exon_variant STAD-US 13 31205398 31205398 single base substitution A G missense_variant T219A 655A>G STAD-US 13 31211892 31211892 insertion of <=200bp - A frameshift_variant K294K? STAD-US 13 31231880 31231880 single base substitution G T missense_variant A556S 1666G>T STAD-US 13 31232078 31232078 single base substitution A C missense_variant T622P 1864A>C STAD-US 13 31232148 31232148 single base substitution T C missense_variant I645T 1934T>C STAD-US 13 31232181 31232181 deletion of <=200bp C - frameshift_variant S656 STAD-US 13 31232624 31232624 single base substitution A G missense_variant I804V 2410A>G STAD-US 13 31232640 31232640 single base substitution G A missense_variant S809N 2426G>A STAD-US 13 31232943 31232943 single base substitution C T missense_variant P910L 2729C>T STAD-US 13 31233355 31233355 single base substitution C T synonymous_variant C1047C 3141C>T STAD-US 13 31233466 31233466 single base substitution C T synonymous_variant F1084F 3252C>T THCA-SA 13 31231893 31231893 single base substitution T G missense_variant L560R 1679T>G THCA-SA 13 31232430 31232430 single base substitution C G missense_variant S739C 2216C>G UCEC-US 13 31195355 31195355 single base substitution C T intron_variant UCEC-US 13 31195355 31195355 single base substitution C T synonymous_variant H26H 78C>T UCEC-US 13 31195963 31195963 single base substitution G T exon_variant UCEC-US 13 31195963 31195963 single base substitution G T missense_variant K54N 162G>T UCEC-US 13 31205223 31205223 single base substitution G T exon_variant UCEC-US 13 31205223 31205223 single base substitution G T missense_variant Q160H 480G>T UCEC-US 13 31216843 31216843 single base substitution C A missense_variant S354Y 1061C>A UCEC-US 13 31221163 31221163 single base substitution A G missense_variant K403E 1207A>G UCEC-US 13 31231887 31231887 single base substitution G A missense_variant R558H 1673G>A UCEC-US 13 31231980 31231980 single base substitution A G missense_variant E589G 1766A>G UCEC-US 13 31232199 31232199 single base substitution A G missense_variant N662S 1985A>G UCEC-US 13 31232232 31232232 single base substitution C A missense_variant T673N 2018C>A UCEC-US 13 31232785 31232785 single base substitution C A synonymous_variant T857T 2571C>A UCEC-US 13 31232960 31232960 single base substitution C T stop_gained R916* 2746C>T UCEC-US 13 31233381 31233381 single base substitution C T missense_variant P1056L 3167C>T UCEC-US 13 31233426 31233426 single base substitution T G stop_gained L1071* 3212T>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-C5-A1BF-01 COSM4836786 c.2436C>A p.S812S Substitution - coding silent 13:30658513-30658513 + CHEWS024 COSM4575899 c.842A>G p.Y281C Substitution - Missense 13:30631448-30631448 + QC2-33-T2 COSM5654548 c.2524C>A p.P842T Substitution - Missense 13:30658601-30658601 + TCGA-E2-A15S-01 COSM432290 c.1954A>G p.I652V Substitution - Missense 13:30658031-30658031 + TCGA-FS-A1ZD-06 COSM3468270 c.2703G>A p.K901K Substitution - coding silent 13:30658780-30658780 + TCGA-AA-A010-01 COSM286414 c.2665C>T p.R889C Substitution - Missense 13:30658742-30658742 + YULETA COSM3468272 c.3101C>T p.P1034L Substitution - Missense 13:30659178-30659178 + TCGA-KK-A59V-01 COSM4879012 c.1304C>T p.A435V Substitution - Missense 13:30653213-30653213 + TCGA-B5-A0JY-01 COSM946635 c.3167C>T p.P1056L Substitution - Missense 13:30659244-30659244 + TCGA-EK-A2PM-01 COSM4831454 c.1254C>T p.F418F Substitution - coding silent 13:30653163-30653163 + TCGA-BS-A0UF-01 COSM946630 c.1766A>G p.E589G Substitution - Missense 13:30657843-30657843 + P129 COSM4147681 c.2849G>A p.S950N Substitution - Missense 13:30658926-30658926 + CHC432T COSM4953974 c.830A>G p.N277S Substitution - Missense 13:30631436-30631436 + 12M COSM5577849 c.513G>A p.R171R Substitution - coding silent 13:30631119-30631119 + CHC1154T COSM4952146 c.636G>T p.M212I Substitution - Missense 13:30631242-30631242 + TCGA-G2-A2EO-01 COSM1300131 c.2497C>T p.P833S Substitution - Missense 13:30658574-30658574 + 2492702 COSM5715567 c.924G>A p.L308L Substitution - coding silent 13:30637799-30637799 + TCGA-CG-4436-01 COSM4046967 c.1934T>C p.I645T Substitution - Missense 13:30658011-30658011 + BN19 COSM1606996 c.1944A>G p.Q648Q Substitution - coding silent 13:30658021-30658021 + 587376 COSM1232138 c.2703G>T p.K901N Substitution - Missense 13:30658780-30658780 + ccRCC-94 COSM1664934 c.205A>C p.I69L Substitution - Missense 13:30621869-30621869 + TCGA-A6-6141-01 COSM1366314 c.272C>A p.S91Y Substitution - Missense 13:30630878-30630878 + Pat_41_B COSM5842389 c.1540C>T p.L514F Substitution - Missense 13:30657617-30657617 + IGROV-1 COSM1684363 c.1425delA p.G476fs*29 Deletion - Frameshift 13:30657502-30657502 + PD11355a COSM5786217 c.1702C>A p.H568N Substitution - Missense 13:30657779-30657779 + TCGA-EK-A2PM-01 COSM4820758 c.780G>A p.S260S Substitution - coding silent 13:30631386-30631386 + LUAD_E01166 COSM390748 c.2578G>T p.G860* Substitution - Nonsense 13:30658655-30658655 + TCGA-A7-A13D-01 COSM432287 c.671C>A p.A224D Substitution - Missense 13:30631277-30631277 + TCGA-EE-A3JA-06 COSM3468273 c.3200C>T p.S1067F Substitution - Missense 13:30659277-30659277 + TCGA-39-5027-01 COSM696784 c.1375A>T p.T459S Substitution - Missense 13:30653284-30653284 + 2492720 COSM5724162 c.122C>T p.P41L Substitution - Missense 13:30621786-30621786 + 2492700 COSM5715567 c.924G>A p.L308L Substitution - coding silent 13:30637799-30637799 + LUAD-CHTN-Z4716A COSM361734 c.3083G>A p.S1028N Substitution - Missense 13:30659160-30659160 + CSCC-47-T COSM4560601 c.84G>A p.V28V Substitution - coding silent 13:30621224-30621224 + TCGA-BS-A0UF-01 COSM946632 c.2018C>A p.T673N Substitution - Missense 13:30658095-30658095 + 8 COSM2070845 c.3186C>T p.F1062F Substitution - coding silent 13:30659263-30659263 + S00944 COSM316429 c.2968G>T p.E990* Substitution - Nonsense 13:30659045-30659045 + LUAD-YINHD COSM348819 c.3187G>A p.D1063N Substitution - Missense 13:30659264-30659264 + RK126_C01 COSM1629050 c.2959G>A p.E987K Substitution - Missense 13:30659036-30659036 + TCGA-C5-A1MF-01 COSM4820758 c.780G>A p.S260S Substitution - coding silent 13:30631386-30631386 + 8052570 COSM3384808 c.2142A>C p.K714N Substitution - Missense 13:30658219-30658219 + SNUH_G73_S1 COSM4416137 c.1150C>T p.P384S Substitution - Missense 13:30646969-30646969 + TCGA-AP-A0LM-01 COSM946636 c.3212T>G p.L1071* Substitution - Nonsense 13:30659289-30659289 + TCGA-BH-A18R-01 COSM432286 c.484C>A p.P162T Substitution - Missense 13:30631090-30631090 + TCGA-AZ-4315-01 COSM286414 c.2665C>T p.R889C Substitution - Missense 13:30658742-30658742 + LUAD-S01315 COSM344245 c.2836A>G p.I946V Substitution - Missense 13:30658913-30658913 + CN-AML-NR-08-Dx COSM4147681 c.2849G>A p.S950N Substitution - Missense 13:30658926-30658926 + TCGA-36-2548-01 COSM1322919 c.397G>A p.G133S Substitution - Missense 13:30631003-30631003 + TCGA-F5-6814-01 COSM2070845 c.3186C>T p.F1062F Substitution - coding silent 13:30659263-30659263 + T2999 COSM4739968 c.682C>T p.Q228* Substitution - Nonsense 13:30631288-30631288 + CSCC-29-T COSM4466953 c.1462C>T p.P488S Substitution - Missense 13:30657539-30657539 + 587376 COSM1232137 c.2229G>T p.Q743H Substitution - Missense 13:30658306-30658306 + TCGA-AP-A0LP-01 COSM946626 c.802C>T p.R268W Substitution - Missense 13:30631408-30631408 + HT115 COSM2070805 c.185G>A p.R62Q Substitution - Missense 13:30621849-30621849 + Pa08C COSM84214 c.2618C>G p.S873C Substitution - Missense 13:30658695-30658695 + CHC892T COSM4795468 c.2981G>A p.R994K Substitution - Missense 13:30659058-30659058 + TCGA-IR-A3LK-01 COSM4817381 c.2091G>A p.E697E Substitution - coding silent 13:30658168-30658168 + TCGA-76-4932-01 COSM3399331 c.1938A>G p.Q646Q Substitution - coding silent 13:30658015-30658015 + CSCC-57-T COSM3468272 c.3101C>T p.P1034L Substitution - Missense 13:30659178-30659178 + 2492721 COSM5724162 c.122C>T p.P41L Substitution - Missense 13:30621786-30621786 + TCGA-B5-A11U-01 COSM946623 c.78C>T p.H26H Substitution - coding silent 13:30621218-30621218 + cSCCP7 COSM139988 c.1036C>T p.H346Y Substitution - Missense 13:30642681-30642681 + TCGA-CD-5804-01 COSM4046965 c.1666G>T p.A556S Substitution - Missense 13:30657743-30657743 + TCGA-IR-A3LL-01 COSM4849696 c.277G>A p.D93N Substitution - Missense 13:30630883-30630883 + OSCC-GB_01060111 COSM4882387 c.2618C>A p.S873Y Substitution - Missense 13:30658695-30658695 + 53 COSM5734845 c.1924G>T p.E642* Substitution - Nonsense 13:30658001-30658001 + TCGA-20-1685-01 COSM1322920 c.290G>A p.C97Y Substitution - Missense 13:30630896-30630896 + TCGA-BS-A0U8-01 COSM946631 c.1985A>G p.N662S Substitution - Missense 13:30658062-30658062 + TCGA-AP-A0LM-01 COSM946633 c.2571C>A p.T857T Substitution - coding silent 13:30658648-30658648 + T2269 COSM4739970 c.1672C>T p.R558C Substitution - Missense 13:30657749-30657749 + S00501 COSM316427 c.2839G>C p.D947H Substitution - Missense 13:30658916-30658916 + 1N25-VS-1T25 COSM4973351 c.907G>T p.E303* Substitution - Nonsense 13:30637782-30637782 + TCGA-FW-A3R5-06 COSM3885221 c.2471C>T p.P824L Substitution - Missense 13:30658548-30658548 + TCGA-AP-A056-01 COSM946627 c.1061C>A p.S354Y Substitution - Missense 13:30642706-30642706 + TCGA-BR-4361-01 COSM4046964 c.655A>G p.T219A Substitution - Missense 13:30631261-30631261 + CHC892T COSM4795468 c.2981G>A p.R994K Substitution - Missense 13:30659058-30659058 + TCGA-Q1-A73P-01 COSM4820758 c.780G>A p.S260S Substitution - coding silent 13:30631386-30631386 + TCGA-A8-A07R-01 COSM3813703 c.2221T>C p.S741P Substitution - Missense 13:30658298-30658298 + S00501 COSM316427 c.2839G>C p.D947H Substitution - Missense 13:30658916-30658916 + SNUH_G10_S1 COSM3999062 c.1592T>C p.L531S Substitution - Missense 13:30657669-30657669 + TCGA-HU-A4H4-01 COSM4046963 c.594A>C p.R198S Substitution - Missense 13:30631200-30631200 + SJOS001107_M2 COSM5024041 c.3114G>T p.Q1038H Substitution - Missense 13:30659191-30659191 + TCGA-A8-A08I-01 COSM432285 c.33G>A p.L11L Substitution - coding silent 13:30621173-30621173 + CRC-39T COSM5453213 c.802C>A p.R268R Substitution - coding silent 13:30631408-30631408 + CN-AML-NR-08-Dx COSM3999062 c.1592T>C p.L531S Substitution - Missense 13:30657669-30657669 + TCGA-AX-A05Z-01 COSM946634 c.2746C>T p.R916* Substitution - Nonsense 13:30658823-30658823 + TCGA-A8-A07P-01 COSM5832176 c.2346_2347insG p.I783fs*3 Insertion - Frameshift 13:30658423-30658424 + TCGA-B2-3924-01 COSM469329 c.154A>G p.K52E Substitution - Missense 13:30621818-30621818 + CSCC-37-T COSM4477840 c.2189C>T p.T730I Substitution - Missense 13:30658266-30658266 + Pat_41_B COSM5842387 c.711G>A p.W237* Substitution - Nonsense 13:30631317-30631317 + TCGA-CG-5721-01 COSM4046968 c.2410A>G p.I804V Substitution - Missense 13:30658487-30658487 + MOLT-4 COSM1677581 c.1187C>T p.P396L Substitution - Missense 13:30647006-30647006 + DLD1 COSM2070815 c.646A>G p.S216G Substitution - Missense 13:30631252-30631252 + LIM2405 COSM4613348 c.2548_2549insT p.L851fs*28 Insertion - Frameshift 13:30658625-30658626 + T3038 COSM4739969 c.1410A>G p.E470E Substitution - coding silent 13:30657487-30657487 + TCGA-B7-5816-01 COSM4046966 c.1864A>C p.T622P Substitution - Missense 13:30657941-30657941 + 19 COSM5747475 c.880delA p.K295fs*10 Deletion - Frameshift 13:30637755-30637755 + PTC-7C COSM4147681 c.2849G>A p.S950N Substitution - Missense 13:30658926-30658926 + S00944 COSM316429 c.2968G>T p.E990* Substitution - Nonsense 13:30659045-30659045 + Capan-1 COSM328321 c.1362T>G p.N454K Substitution - Missense 13:30653271-30653271 + YUROG COSM5376619 c.1612G>A p.D538N Substitution - Missense 13:30657689-30657689 + PM-1 COSM1366315 c.2677C>T p.R893C Substitution - Missense 13:30658754-30658754 + TCGA-G7-6796-01 COSM3987360 c.3172A>C p.K1058Q Substitution - Missense 13:30659249-30659249 + TCGA-DA-A1I1-06 COSM3468272 c.3101C>T p.P1034L Substitution - Missense 13:30659178-30659178 + TCGA-AO-A0J9-01 COSM432291 c.2851G>A p.E951K Substitution - Missense 13:30658928-30658928 + TCGA-BR-4201-01 COSM2070810 c.396C>T p.D132D Substitution - coding silent 13:30631002-30631002 + YUCLAT COSM1706632 c.1304C>G p.A435G Substitution - Missense 13:30653213-30653213 + CN-AML-08-T COSM4147681 c.2849G>A p.S950N Substitution - Missense 13:30658926-30658926 + TCGA-DD-A4NF-01 COSM4912739 c.424A>T p.N142Y Substitution - Missense 13:30631030-30631030 + ZZUFHECRKL-G067T COSM5438630 c.779C>G p.S260W Substitution - Missense 13:30631385-30631385 + HCT15 COSM2070801 c.64A>T p.I22L Substitution - Missense 13:30621204-30621204 + TCGA-ES-A2HT-01 COSM4938565 c.2324T>C p.V775A Substitution - Missense 13:30658401-30658401 + HT115 COSM286414 c.2665C>T p.R889C Substitution - Missense 13:30658742-30658742 + 22T COSM109697 c.3100C>T p.P1034S Substitution - Missense 13:30659177-30659177 + B86-Tumor COSM1747401 c.499G>C p.D167H Substitution - Missense 13:30631105-30631105 + SNUH_G10_S1 COSM3999063 c.3008T>G p.I1003S Substitution - Missense 13:30659085-30659085 + 587284 COSM1232135 c.2492G>T p.G831V Substitution - Missense 13:30658569-30658569 + CHC432T COSM4953974 c.830A>G p.N277S Substitution - Missense 13:30631436-30631436 + RKO COSM2070823 c.1324C>A p.L442I Substitution - Missense 13:30653233-30653233 + TCGA-DK-A3IT-01 COSM1300128 c.850C>T p.Q284* Substitution - Nonsense 13:30631456-30631456 + 23_FL COSM4170500 c.2480A>C p.K827T Substitution - Missense 13:30658557-30658557 + TCGA-ER-A19S-06 COSM3468269 c.2287T>C p.L763L Substitution - coding silent 13:30658364-30658364 + 2492703 COSM5715567 c.924G>A p.L308L Substitution - coding silent 13:30637799-30637799 + TCGA-AN-A046-01 COSM1366314 c.272C>A p.S91Y Substitution - Missense 13:30630878-30630878 + TCGA-DA-A1I0-06 COSM1706632 c.1304C>G p.A435G Substitution - Missense 13:30653213-30653213 + CLN3 COSM5024649 c.385A>G p.I129V Substitution - Missense 13:30630991-30630991 + S00943 COSM316428 c.1039A>T p.I347F Substitution - Missense 13:30642684-30642684 + LP6005409-DNA_A01 COSM5952059 c.15G>T p.P5P Substitution - coding silent 13:30621155-30621155 + 8065703 COSM3772798 c.2447G>A p.R816H Substitution - Missense 13:30658524-30658524 + TCGA-HU-A4G8-01 COSM4046970 c.2729C>T p.P910L Substitution - Missense 13:30658806-30658806 + BD114T COSM5504000 c.2835A>G p.P945P Substitution - coding silent 13:30658912-30658912 + ME009T COSM223630 c.2069G>A p.G690E Substitution - Missense 13:30658146-30658146 + PTC_417 COSM5960052 c.1679T>G p.L560R Substitution - Missense 13:30657756-30657756 + TCGA-DK-A2I1-01 COSM1300130 c.1637C>T p.S546L Substitution - Missense 13:30657714-30657714 + TCGA-F5-6814-01 COSM3417513 c.1572T>G p.S524R Substitution - Missense 13:30657649-30657649 + TCGA-BR-8078-01 COSM4046971 c.3141C>T p.C1047C Substitution - coding silent 13:30659218-30659218 + TCGA-AO-A1KO-01 COSM1477182 c.1539A>G p.P513P Substitution - coding silent 13:30657616-30657616 + YUSMI COSM5376620 c.2833C>T p.P945S Substitution - Missense 13:30658910-30658910 + 61 COSM5739928 c.2087T>A p.I696N Substitution - Missense 13:30658164-30658164 + TCGA-EA-A3Y4-01 COSM4848066 c.1153G>A p.E385K Substitution - Missense 13:30646972-30646972 + Pat_24_B COSM5842388 c.1297delC p.H433fs*13 Deletion - Frameshift 13:30653206-30653206 + BN19T COSM1606996 c.1944A>G p.Q648Q Substitution - coding silent 13:30658021-30658021 + P98 COSM5009392 c.3204C>T p.S1068S Substitution - coding silent 13:30659281-30659281 + ML_89_T_01 COSM5037799 c.1012C>T p.P338S Substitution - Missense 13:30642657-30642657 + HCC2998 COSM1677582 c.1340C>A p.S447Y Substitution - Missense 13:30653249-30653249 + TCGA-AA-A00N-01 COSM278056 c.1688A>G p.D563G Substitution - Missense 13:30657765-30657765 + 587342 COSM1232136 c.68C>A p.S23Y Substitution - Missense 13:30621208-30621208 + YURTHE COSM1706631 c.484C>T p.P162S Substitution - Missense 13:30631090-30631090 + Gp2D COSM4627180 c.2165T>C p.V722A Substitution - Missense 13:30658242-30658242 + TCGA-ER-A19P-06 COSM3468271 c.2918C>G p.A973G Substitution - Missense 13:30658995-30658995 + CHC1154T COSM4952146 c.636G>T p.M212I Substitution - Missense 13:30631242-30631242 + TCGA-DK-A2I4-01 COSM3793237 c.3206C>T p.S1069L Substitution - Missense 13:30659283-30659283 + HCC2998 COSM2070816 c.673T>G p.L225V Substitution - Missense 13:30631279-30631279 + 8069156 COSM3772797 c.430G>A p.E144K Substitution - Missense 13:30631036-30631036 + TCGA-JW-A5VL-01 COSM4846810 c.2652G>C p.Q884H Substitution - Missense 13:30658729-30658729 + sysucc-880T COSM5462323 c.1525G>T p.A509S Substitution - Missense 13:30657602-30657602 + 77 COSM5015183 c.3043T>C p.S1015P Substitution - Missense 13:30659120-30659120 + T2269 COSM4739971 c.1836T>G p.P612P Substitution - coding silent 13:30657913-30657913 + TCGA-D1-A17Q-01 COSM946625 c.480G>T p.Q160H Substitution - Missense 13:30631086-30631086 + Pat_41_B COSM5842386 c.286G>A p.E96K Substitution - Missense 13:30630892-30630892 + TCGA-AP-A056-01 COSM946624 c.162G>T p.K54N Substitution - Missense 13:30621826-30621826 + 113377 COSM96276 c.30T>G p.G10G Substitution - coding silent 13:30621170-30621170 + ESO-189 COSM361734 c.3083G>A p.S1028N Substitution - Missense 13:30659160-30659160 + TCGA-HU-A4H4-01 COSM4046969 c.2426G>A p.S809N Substitution - Missense 13:30658503-30658503 + 2492701 COSM5715567 c.924G>A p.L308L Substitution - coding silent 13:30637799-30637799 + T3306 COSM4739967 c.418A>G p.K140E Substitution - Missense 13:30631024-30631024 + B86 COSM1747401 c.499G>C p.D167H Substitution - Missense 13:30631105-30631105 + HCT15 COSM2070815 c.646A>G p.S216G Substitution - Missense 13:30631252-30631252 + CN-AML-08-T COSM3999062 c.1592T>C p.L531S Substitution - Missense 13:30657669-30657669 + LUAD-RT-S01769 COSM380870 c.162G>C p.K54N Substitution - Missense 13:30621826-30621826 + HCC014T COSM5814446 c.2184A>G p.K728K Substitution - coding silent 13:30658261-30658261 + 8061178 COSM3384809 c.2524C>G p.P842A Substitution - Missense 13:30658601-30658601 + P134 COSM5010101 c.2755A>G p.N919D Substitution - Missense 13:30658832-30658832 + TCGA-AN-A04D-01 COSM432289 c.1183G>T p.G395C Substitution - Missense 13:30647002-30647002 + PT38 COSM5923059 c.238C>T p.P80S Substitution - Missense 13:30630844-30630844 + MO_1094 COSM5562850 c.2123C>A p.P708Q Substitution - Missense 13:30658200-30658200 + TCGA-AP-A059-01 COSM946628 c.1207A>G p.K403E Substitution - Missense 13:30647026-30647026 + TCGA-AP-A056-01 COSM946629 c.1673G>A p.R558H Substitution - Missense 13:30657750-30657750 + SNUH_G73_S1 COSM3999062 c.1592T>C p.L531S Substitution - Missense 13:30657669-30657669 + TCGA-A8-A0A6-01 COSM3813702 c.760A>C p.T254P Substitution - Missense 13:30631366-30631366 + TCGA-DK-A1AC-01 COSM1300129 c.893C>T p.S298L Substitution - Missense 13:30637768-30637768 + TCGA-AO-A03N-01 COSM432292 c.3262C>T p.L1088L Substitution - coding silent 13:30659339-30659339 + TCGA-AN-A046-01 COSM3813704 c.3252C>T p.F1084F Substitution - coding silent 13:30659329-30659329 + TCGA-56-5897-01 COSM696783 c.1654G>C p.D552H Substitution - Missense 13:30657731-30657731 + TCGA-BR-8078-01 COSM3813704 c.3252C>T p.F1084F Substitution - coding silent 13:30659329-30659329 + 2492722 COSM5724162 c.122C>T p.P41L Substitution - Missense 13:30621786-30621786 + TCGA-18-3409-01 COSM696782 c.2883C>T p.S961S Substitution - coding silent 13:30658960-30658960 + B9-Tumor COSM3931813 c.1282C>G p.Q428E Substitution - Missense 13:30653191-30653191 + PCSI_0090_Pa_X COSM3376527 c.638C>T p.P213L Substitution - Missense 13:30631244-30631244 + 2492723 COSM5724162 c.122C>T p.P41L Substitution - Missense 13:30621786-30621786 + TCGA-A6-6141-01 COSM1366315 c.2677C>T p.R893C Substitution - Missense 13:30658754-30658754 + LC_S9 COSM1188688 c.90T>A p.Y30* Substitution - Nonsense 13:30621230-30621230 + HCC2998 COSM1677582 c.1340C>A p.S447Y Substitution - Missense 13:30653249-30653249 + TCGA-RP-A693-06 COSM4895280 c.1541T>C p.L514P Substitution - Missense 13:30657618-30657618 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.533831 13q12-q14

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.T622P c.1864A>C 13 31232078 STAD A G Missense p.I652V c.1954A>G 13 31232168 BRCA A G Missense p.N662S c.1985A>G 13 31232199 UCEC A G Synonymous p.L1051L c.3153A>G 13 31233367 HNSC A G Synonymous p.P513P c.1539A>G 13 31231753 BRCA A G Synonymous p.Q646Q c.1938A>G 13 31232152 GBM A T Missense p.D699V c.2096A>T 13 31232310 LUAD A T Missense p.I347F c.1039A>T 13 31216821 SCLC A T Missense p.T459S c.1375A>T 13 31227421 LUSC CA - Frameshift p.N623Yfs*18 c.1866_1867delCA 13 31232080 RCCC C A Missense p.A224D c.671C>A 13 31205414 BRCA C A Missense p.P162T c.484C>A 13 31205227 BRCA C A Missense p.Q657K c.1969C>A 13 31232183 LUAD C G Missense p.A392G c.1175C>G 13 31221131 LUAD C G Missense p.A435G c.1304C>G 13 31227350 CM C G Missense p.A973G c.2918C>G 13 31233132 CM C T Missense p.P1034L c.3101C>T 13 31233315 CM C T Missense p.P513L c.1538C>T 13 31231752 CM C T Missense p.P833S c.2497C>T 13 31232711 BLCA C T Missense p.S1067F c.3200C>T 13 31233414 CM C T Missense p.S1069L c.3206C>T 13 31233420 BLCA C T Missense p.S530F c.1589C>T 13 31231803 CM C T Missense p.S546L c.1637C>T 13 31231851 BLCA C T Missense p.S834L c.2501C>T 13 31232715 HNSC C T Nonsense p.Q284* c.850C>T 13 31205593 BLCA C T Synonymous p.A949A c.2847C>T 13 31233061 LUAD C T Synonymous p.D132D c.396C>T 13 31205139 HNSC C T Synonymous p.D132D c.396C>T 13 31205139 STAD C T Synonymous p.H26H c.78C>T 13 31195355 UCEC C T Synonymous p.L1088L c.3262C>T 13 31233476 BRCA G A Missense p.E951K c.2851G>A 13 31233065 BRCA G A Missense p.E987K c.2959G>A 13 31233173 HC G A Missense p.G690E c.2069G>A 13 31232283 CM G A Missense p.M998I c.2994G>A 13 31233208 CM G A Missense p.S1028N c.3083G>A 13 31233297 ESCA G A Synonymous p.K483K c.1449G>A 13 31231663 LUAD G A Synonymous p.K901K c.2703G>A 13 31232917 CM G A Synonymous p.L11L c.33G>A 13 31195310 BRCA G C Missense p.D1060H c.3178G>C 13 31233392 HNSC G C Missense p.D552H c.1654G>C 13 31231868 LUSC G C Missense p.D947H c.2839G>C 13 31233053 SCLC G C Missense p.G53R c.157G>C 13 31195958 CM GTGATATGGAAAGCCCT - SpliceAcceptorDeletion . c.986_1002delATATGGAAAGCCCTGTG 13 31216765 BRCA G T Missense p.G395C c.1183G>T 13 31221139 BRCA G T Missense p.G395V c.1184G>T 13 31221140 LUAD G T Missense p.K1058N c.3174G>T 13 31233388 CM G T Missense p.K114N c.342G>T 13 31205085 LUAD G T Missense p.S765I c.2294G>T 13 31232508 LUAD G T Missense p.W497C c.1491G>T 13 31231705 CM G T Nonsense p.E990* c.2968G>T 13 31233182 SCLC T C Missense p.I645T c.1934T>C 13 31232148 STAD T C Missense p.I946T c.2837T>C 13 31233051 COREAD T C Synonymous p.L763L c.2287T>C 13 31232501 CM T - IntronicDeletion . c.1113-5delT 13 31221058 STAD