Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 12 97338562 97338562 + Missense_Mutation SNP C C T TCGA-OR-A5KP-01A-11D-A30A-10 TCGA-OR-A5KP-10A-01D-A30A-10 g.chr12:97338562C>T c.1643C>T c.(1642-1644)tCc>tTc p.S548F ACC 12 97345221 97345221 + Missense_Mutation SNP A A G TCGA-OR-A5J8-01A-11D-A29I-10 TCGA-OR-A5J8-10A-01D-A29L-10 g.chr12:97345221A>G c.1823A>G c.(1822-1824)cAt>cGt p.H608R BLCA 12 97331111 97331111 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr12:97331111C>G c.1057C>G c.(1057-1059)Cta>Gta p.L353V BLCA 12 97334267 97334267 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 g.chr12:97334267G>A c.1198G>A c.(1198-1200)Gat>Aat p.D400N BLCA 12 97339519 97339519 + Missense_Mutation SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 g.chr12:97339519C>T c.1703C>T c.(1702-1704)tCa>tTa p.S568L BLCA 12 97345758 97345758 + Nonsense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr12:97345758C>G c.1910C>G c.(1909-1911)tCa>tGa p.S637* BRCA 12 97303610 97303610 + Missense_Mutation SNP G G A TCGA-E2-A2P6-01A-11D-A19Y-09 TCGA-E2-A2P6-10B-01D-A19Y-09 g.chr12:97303610G>A c.73G>A c.(73-75)Gtg>Atg p.V25M BRCA 12 97328875 97328875 + Missense_Mutation SNP T T C TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr12:97328875T>C c.611T>C c.(610-612)gTa>gCa p.V204A BRCA 12 97339470 97339470 + Splice_Site SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chr12:97339470G>C c.e14-1 CESC 12 97330437 97330437 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chr12:97330437C>T c.768C>T c.(766-768)ttC>ttT p.F256F COAD 12 97303568 97303568 + Missense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr12:97303568G>A c.31G>A c.(31-33)Gga>Aga p.G11R COAD 12 97313768 97313768 + Silent SNP T T C TCGA-AA-3989-01A-01W-0995-10 TCGA-AA-3989-10A-01W-0999-10 g.chr12:97313768T>C c.354T>C c.(352-354)caT>caC p.H118H COAD 12 97328761 97328761 + Missense_Mutation SNP G G A TCGA-AA-3534-01A-01W-0831-10 TCGA-AA-3534-10A-01W-0831-10 g.chr12:97328761G>A c.497G>A c.(496-498)cGg>cAg p.R166Q COAD 12 97330428 97330428 + Silent SNP G G A TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr12:97330428G>A c.759G>A c.(757-759)gcG>gcA p.A253A COAD 12 97334196 97334196 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:97334196G>A c.1127G>A c.(1126-1128)cGa>cAa p.R376Q COAD 12 97334208 97334208 + Missense_Mutation SNP C C G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr12:97334208C>G c.1139C>G c.(1138-1140)aCa>aGa p.T380R COAD 12 97338441 97338441 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr12:97338441G>A c.1522G>A c.(1522-1524)Gct>Act p.A508T COAD 12 97338448 97338448 + Missense_Mutation SNP G G C TCGA-A6-2678-01A-01W-0831-10 TCGA-A6-2678-10A-01W-0831-10 g.chr12:97338448G>C c.1529G>C c.(1528-1530)aGt>aCt p.S510T COAD 12 97339561 97339561 + Missense_Mutation SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr12:97339561C>T c.1745C>T c.(1744-1746)gCa>gTa p.A582V COAD 12 97339584 97339584 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:97339584C>T c.1768C>T c.(1768-1770)Cgt>Tgt p.R590C COAD 12 97345254 97345254 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:97345254T>G c.1856T>G c.(1855-1857)aTt>aGt p.I619S COADREAD 12 97303568 97303568 + Missense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr12:97303568G>A c.31G>A c.(31-33)Gga>Aga p.G11R COADREAD 12 97313768 97313768 + Silent SNP T T C TCGA-AA-3989-01A-01W-0995-10 TCGA-AA-3989-10A-01W-0999-10 g.chr12:97313768T>C c.354T>C c.(352-354)caT>caC p.H118H COADREAD 12 97328761 97328761 + Missense_Mutation SNP G G A TCGA-AA-3534-01A-01W-0831-10 TCGA-AA-3534-10A-01W-0831-10 g.chr12:97328761G>A c.497G>A c.(496-498)cGg>cAg p.R166Q COADREAD 12 97328953 97328953 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:97328953G>T c.689G>T c.(688-690)aGa>aTa p.R230I COADREAD 12 97330428 97330428 + Silent SNP G G A TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr12:97330428G>A c.759G>A c.(757-759)gcG>gcA p.A253A COADREAD 12 97334196 97334196 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:97334196G>A c.1127G>A c.(1126-1128)cGa>cAa p.R376Q COADREAD 12 97334208 97334208 + Missense_Mutation SNP C C G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr12:97334208C>G c.1139C>G c.(1138-1140)aCa>aGa p.T380R COADREAD 12 97338441 97338441 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr12:97338441G>A c.1522G>A c.(1522-1524)Gct>Act p.A508T COADREAD 12 97338448 97338448 + Missense_Mutation SNP G G C TCGA-A6-2678-01A-01W-0831-10 TCGA-A6-2678-10A-01W-0831-10 g.chr12:97338448G>C c.1529G>C c.(1528-1530)aGt>aCt p.S510T COADREAD 12 97339533 97339533 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:97339533G>A c.1717G>A c.(1717-1719)Gac>Aac p.D573N COADREAD 12 97339561 97339561 + Missense_Mutation SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr12:97339561C>T c.1745C>T c.(1744-1746)gCa>gTa p.A582V COADREAD 12 97339584 97339584 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:97339584C>T c.1768C>T c.(1768-1770)Cgt>Tgt p.R590C COADREAD 12 97345254 97345254 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:97345254T>G c.1856T>G c.(1855-1857)aTt>aGt p.I619S ESCA 12 97330537 97330537 + Missense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 g.chr12:97330537C>A c.868C>A c.(868-870)Cac>Aac p.H290N GBM 12 97345747 97345747 + Silent SNP G G A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 g.chr12:97345747G>A c.1899G>A c.(1897-1899)ctG>ctA p.L633L GBMLGG 12 97331097 97331097 + Missense_Mutation SNP C C T TCGA-E1-5322-01A-01D-1468-08 TCGA-E1-5322-10A-01D-1468-08 g.chr12:97331097C>T c.1043C>T c.(1042-1044)tCc>tTc p.S348F GBMLGG 12 97339521 97339522 + Frame_Shift_Ins INS - - A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:97339521_97339522insA c.1705_1706insA c.(1705-1707)gaafs p.E569fs GBMLGG 12 97345747 97345747 + Silent SNP G G A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 g.chr12:97345747G>A c.1899G>A c.(1897-1899)ctG>ctA p.L633L HNSC 12 97303599 97303599 + Missense_Mutation SNP C C G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 g.chr12:97303599C>G c.62C>G c.(61-63)tCt>tGt p.S21C HNSC 12 97328772 97328772 + Missense_Mutation SNP T T C TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 g.chr12:97328772T>C c.508T>C c.(508-510)Tac>Cac p.Y170H HNSC 12 97330420 97330420 + Missense_Mutation SNP C C G TCGA-TN-A7HL-01A-11D-A34J-08 TCGA-TN-A7HL-10A-01D-A34M-08 g.chr12:97330420C>G c.751C>G c.(751-753)Cta>Gta p.L251V HNSC 12 97331091 97331091 + Missense_Mutation SNP C C T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 g.chr12:97331091C>T c.1037C>T c.(1036-1038)gCc>gTc p.A346V HNSC 12 97337517 97337517 + Nonsense_Mutation SNP G G T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 g.chr12:97337517G>T c.1474G>T c.(1474-1476)Gaa>Taa p.E492* HNSC 12 97339486 97339486 + Missense_Mutation SNP C C T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 g.chr12:97339486C>T c.1670C>T c.(1669-1671)tCt>tTt p.S557F HNSC 12 97345265 97345265 + Missense_Mutation SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 g.chr12:97345265C>T c.1867C>T c.(1867-1869)Cat>Tat p.H623Y KIPAN 12 97303545 97303545 + Missense_Mutation SNP A A T TCGA-B0-4828-01A-01D-1361-10 TCGA-B0-4828-11A-01D-1361-10 g.chr12:97303545A>T c.8A>T c.(7-9)gAa>gTa p.E3V KIPAN 12 97303613 97303613 + Missense_Mutation SNP G G C TCGA-B8-5159-01A-01D-1421-08 TCGA-B8-5159-10A-01D-1421-08 g.chr12:97303613G>C c.76G>C c.(76-78)Gat>Cat p.D26H KIRC 12 97303545 97303545 + Missense_Mutation SNP A A T TCGA-B0-4828-01A-01D-1361-10 TCGA-B0-4828-11A-01D-1361-10 g.chr12:97303545A>T c.8A>T c.(7-9)gAa>gTa p.E3V KIRC 12 97303613 97303613 + Missense_Mutation SNP G G C TCGA-B8-5159-01A-01D-1421-08 TCGA-B8-5159-10A-01D-1421-08 g.chr12:97303613G>C c.76G>C c.(76-78)Gat>Cat p.D26H LGG 12 97331097 97331097 + Missense_Mutation SNP C C T TCGA-E1-5322-01A-01D-1468-08 TCGA-E1-5322-10A-01D-1468-08 g.chr12:97331097C>T c.1043C>T c.(1042-1044)tCc>tTc p.S348F LGG 12 97339521 97339522 + Frame_Shift_Ins INS - - A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:97339521_97339522insA c.1705_1706insA c.(1705-1707)gaafs p.E569fs LIHC 12 97328852 97328852 + Silent SNP T T C TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr12:97328852T>C c.588T>C c.(586-588)agT>agC p.S196S LIHC 12 97331084 97331084 + Missense_Mutation SNP G G C TCGA-GJ-A3OU-01A-31D-A382-10 TCGA-GJ-A3OU-10A-01D-A385-10 g.chr12:97331084G>C c.1030G>C c.(1030-1032)Gca>Cca p.A344P LIHC 12 97337446 97337446 + Missense_Mutation SNP C C A TCGA-CC-A7IK-01A-12D-A33Q-10 TCGA-CC-A7IK-10A-01D-A33Q-10 g.chr12:97337446C>A c.1403C>A c.(1402-1404)tCt>tAt p.S468Y LUAD 12 97303606 97303606 + Silent SNP A A C TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 g.chr12:97303606A>C c.69A>C c.(67-69)acA>acC p.T23T LUAD 12 97311456 97311456 + Silent SNP C C T TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr12:97311456C>T c.289C>T c.(289-291)Cta>Tta p.L97L LUAD 12 97313900 97313900 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 g.chr12:97313900C>A c.486C>A c.(484-486)aaC>aaA p.N162K LUAD 12 97313904 97313904 + Splice_Site SNP G G T TCGA-55-A491-01A-11D-A24D-08 TCGA-55-A491-10A-01D-A24F-08 g.chr12:97313904G>T c.e6+1 LUAD 12 97328824 97328824 + Missense_Mutation SNP T T C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 g.chr12:97328824T>C c.560T>C c.(559-561)gTa>gCa p.V187A LUAD 12 97328842 97328842 + Missense_Mutation SNP A A G TCGA-55-8208-01A-11D-2238-08 TCGA-55-8208-10A-01D-2238-08 g.chr12:97328842A>G c.578A>G c.(577-579)aAt>aGt p.N193S LUAD 12 97328946 97328946 + Missense_Mutation SNP G G C TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr12:97328946G>C c.682G>C c.(682-684)Gat>Cat p.D228H LUAD 12 97330537 97330537 + Missense_Mutation SNP C C T TCGA-55-8208-01A-11D-2238-08 TCGA-55-8208-10A-01D-2238-08 g.chr12:97330537C>T c.868C>T c.(868-870)Cac>Tac p.H290Y LUAD 12 97331052 97331052 + Missense_Mutation SNP G G A TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 g.chr12:97331052G>A c.998G>A c.(997-999)gGa>gAa p.G333E LUAD 12 97334248 97334248 + Missense_Mutation SNP G G T TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr12:97334248G>T c.1179G>T c.(1177-1179)caG>caT p.Q393H LUAD 12 97334303 97334303 + Missense_Mutation SNP C C A TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr12:97334303C>A c.1234C>A c.(1234-1236)Cct>Act p.P412T LUSC 12 97311443 97311443 + Missense_Mutation SNP G G T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 g.chr12:97311443G>T c.276G>T c.(274-276)ttG>ttT p.L92F LUSC 12 97328810 97328810 + Silent SNP G G T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 g.chr12:97328810G>T c.546G>T c.(544-546)tcG>tcT p.S182S OV 12 97313850 97313850 + Missense_Mutation SNP C C A TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 g.chr12:97313850C>A c.436C>A c.(436-438)Cac>Aac p.H146N OV 12 97328874 97328874 + Missense_Mutation SNP G G T TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 g.chr12:97328874G>T c.610G>T c.(610-612)Gta>Tta p.V204L PAAD 12 97303532 97303532 + 5'UTR SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:97303532G>A PRAD 12 97330979 97330979 + Missense_Mutation SNP A A G TCGA-XK-AAJ3-01A-11D-A41K-08 TCGA-XK-AAJ3-10A-01D-A41N-08 g.chr12:97330979A>G c.925A>G c.(925-927)Agt>Ggt p.S309G READ 12 97328953 97328953 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:97328953G>T c.689G>T c.(688-690)aGa>aTa p.R230I READ 12 97339533 97339533 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:97339533G>A c.1717G>A c.(1717-1719)Gac>Aac p.D573N SKCM 12 97306520 97306520 + Silent SNP A A G TCGA-ER-A19B-06A-11D-A196-08 TCGA-ER-A19B-10A-01D-A198-08 g.chr12:97306520A>G c.156A>G c.(154-156)gcA>gcG p.A52A SKCM 12 97311490 97311490 + Missense_Mutation SNP C C T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr12:97311490C>T c.323C>T c.(322-324)tCa>tTa p.S108L SKCM 12 97328853 97328853 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 g.chr12:97328853C>T c.589C>T c.(589-591)Cca>Tca p.P197S SKCM 12 97331067 97331067 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 g.chr12:97331067C>T c.1013C>T c.(1012-1014)tCc>tTc p.S338F SKCM 12 97334297 97334297 + Missense_Mutation SNP T T C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 g.chr12:97334297T>C c.1228T>C c.(1228-1230)Ttc>Ctc p.F410L SKCM 12 97339513 97339513 + Missense_Mutation SNP C C T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 g.chr12:97339513C>T c.1697C>T c.(1696-1698)tCa>tTa p.S566L SKCM 12 97339573 97339573 + Missense_Mutation SNP C C T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 g.chr12:97339573C>T c.1757C>T c.(1756-1758)tCc>tTc p.S586F SKCM 12 97339584 97339584 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:97339584C>T c.1768C>T c.(1768-1770)Cgt>Tgt p.R590C SKCM 12 97345795 97345795 + Silent SNP A A T TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr12:97345795A>T c.1947A>T c.(1945-1947)ctA>ctT p.L649L

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 12 97313766 97313766 single base substitution C G downstream_gene_variant BLCA-CN 12 97313766 97313766 single base substitution C G exon_variant BLCA-CN 12 97313766 97313766 single base substitution C G missense_variant H118D 352C>G BLCA-CN 12 97313766 97313766 single base substitution C G missense_variant H125D 373C>G BLCA-CN 12 97313766 97313766 single base substitution C G missense_variant H29D 85C>G BLCA-US 12 97331111 97331111 single base substitution C G downstream_gene_variant BLCA-US 12 97331111 97331111 single base substitution C G missense_variant L264V 790C>G BLCA-US 12 97331111 97331111 single base substitution C G missense_variant L353V 1057C>G BLCA-US 12 97331111 97331111 single base substitution C G missense_variant L360V 1078C>G BLCA-US 12 97345758 97345758 single base substitution C G stop_gained S548* 1643C>G BLCA-US 12 97345758 97345758 single base substitution C G stop_gained S637* 1910C>G BLCA-US 12 97345758 97345758 single base substitution C G stop_gained S644* 1931C>G BOCA-FR 12 97303682 97303682 single base substitution T A intron_variant BOCA-FR 12 97303682 97303682 single base substitution T A upstream_gene_variant BRCA-EU 12 97296849 97296849 single base substitution G A upstream_gene_variant BRCA-EU 12 97297793 97297793 single base substitution C T upstream_gene_variant BRCA-EU 12 97302051 97302051 single base substitution G A intron_variant BRCA-EU 12 97302051 97302051 single base substitution G A upstream_gene_variant BRCA-EU 12 97302272 97302272 single base substitution A T intron_variant BRCA-EU 12 97302272 97302272 single base substitution A T upstream_gene_variant BRCA-EU 12 97302282 97302282 single base substitution C G intron_variant BRCA-EU 12 97302282 97302282 single base substitution C G upstream_gene_variant BRCA-EU 12 97302826 97302826 single base substitution T G intron_variant BRCA-EU 12 97302826 97302826 single base substitution T G upstream_gene_variant BRCA-EU 12 97304303 97304303 single base substitution A T intron_variant BRCA-EU 12 97304303 97304303 single base substitution A T upstream_gene_variant BRCA-EU 12 97304808 97304808 single base substitution C T intron_variant BRCA-EU 12 97304808 97304808 single base substitution C T upstream_gene_variant BRCA-EU 12 97305459 97305459 deletion of <=200bp T - intron_variant BRCA-EU 12 97305459 97305459 deletion of <=200bp T - upstream_gene_variant BRCA-EU 12 97306229 97306229 single base substitution C G intron_variant BRCA-EU 12 97306229 97306229 single base substitution C G upstream_gene_variant BRCA-EU 12 97306532 97306532 single base substitution C T 5_prime_UTR_variant BRCA-EU 12 97306532 97306532 single base substitution C T exon_variant BRCA-EU 12 97306532 97306532 single base substitution C T intron_variant BRCA-EU 12 97306532 97306532 single base substitution C T synonymous_variant G56G 168C>T BRCA-EU 12 97306532 97306532 single base substitution C T synonymous_variant G63G 189C>T BRCA-EU 12 97307544 97307544 deletion of <=200bp A - intron_variant BRCA-EU 12 97308102 97308102 deletion of <=200bp T - intron_variant BRCA-EU 12 97309285 97309285 single base substitution A C intron_variant BRCA-EU 12 97309746 97309746 single base substitution A C intron_variant BRCA-EU 12 97311639 97311639 single base substitution T A downstream_gene_variant BRCA-EU 12 97311639 97311639 single base substitution T A intron_variant BRCA-EU 12 97313119 97313119 single base substitution C T downstream_gene_variant BRCA-EU 12 97313119 97313119 single base substitution C T intron_variant BRCA-EU 12 97315076 97315076 single base substitution C A downstream_gene_variant BRCA-EU 12 97315076 97315076 single base substitution C A intron_variant BRCA-EU 12 97315155 97315155 single base substitution C T downstream_gene_variant BRCA-EU 12 97315155 97315155 single base substitution C T intron_variant BRCA-EU 12 97315935 97315935 single base substitution C G downstream_gene_variant BRCA-EU 12 97315935 97315935 single base substitution C G intron_variant BRCA-EU 12 97316225 97316225 single base substitution G T downstream_gene_variant BRCA-EU 12 97316225 97316225 single base substitution G T intron_variant BRCA-EU 12 97316894 97316894 single base substitution C T downstream_gene_variant BRCA-EU 12 97316894 97316894 single base substitution C T intron_variant BRCA-EU 12 97317756 97317756 single base substitution A G downstream_gene_variant BRCA-EU 12 97317756 97317756 single base substitution A G intron_variant BRCA-EU 12 97318999 97318999 single base substitution G C downstream_gene_variant BRCA-EU 12 97318999 97318999 single base substitution G C intron_variant BRCA-EU 12 97319864 97319864 single base substitution C T downstream_gene_variant BRCA-EU 12 97319864 97319864 single base substitution C T intron_variant BRCA-EU 12 97320012 97320012 single base substitution G C downstream_gene_variant BRCA-EU 12 97320012 97320012 single base substitution G C intron_variant BRCA-EU 12 97320486 97320486 single base substitution C T downstream_gene_variant BRCA-EU 12 97320486 97320486 single base substitution C T intron_variant BRCA-EU 12 97320872 97320872 single base substitution A C downstream_gene_variant BRCA-EU 12 97320872 97320872 single base substitution A C intron_variant BRCA-EU 12 97320888 97320888 single base substitution G A downstream_gene_variant BRCA-EU 12 97320888 97320888 single base substitution G A intron_variant BRCA-EU 12 97321177 97321177 deletion of <=200bp G - downstream_gene_variant BRCA-EU 12 97321177 97321177 deletion of <=200bp G - intron_variant BRCA-EU 12 97322717 97322717 single base substitution C T downstream_gene_variant BRCA-EU 12 97322717 97322717 single base substitution C T intron_variant BRCA-EU 12 97324689 97324689 single base substitution C T intron_variant BRCA-EU 12 97324786 97324786 single base substitution A T intron_variant BRCA-EU 12 97325974 97325974 single base substitution C T intron_variant BRCA-EU 12 97326442 97326442 single base substitution A G intron_variant BRCA-EU 12 97328301 97328301 single base substitution T C intron_variant BRCA-EU 12 97328346 97328346 single base substitution C G intron_variant BRCA-EU 12 97328577 97328577 single base substitution A G intron_variant BRCA-EU 12 97330789 97330789 single base substitution T C downstream_gene_variant BRCA-EU 12 97330789 97330789 single base substitution T C intron_variant BRCA-EU 12 97331908 97331908 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 97331908 97331908 deletion of <=200bp T - intron_variant BRCA-EU 12 97332928 97332928 single base substitution G A downstream_gene_variant BRCA-EU 12 97332928 97332928 single base substitution G A intron_variant BRCA-EU 12 97333782 97333782 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 97333782 97333782 deletion of <=200bp A - intron_variant BRCA-EU 12 97335458 97335458 single base substitution T C downstream_gene_variant BRCA-EU 12 97335458 97335458 single base substitution T C intron_variant BRCA-EU 12 97335461 97335461 single base substitution T C downstream_gene_variant BRCA-EU 12 97335461 97335461 single base substitution T C intron_variant BRCA-EU 12 97336827 97336827 single base substitution T C intron_variant BRCA-EU 12 97337658 97337658 single base substitution A T intron_variant BRCA-EU 12 97337914 97337914 single base substitution A T intron_variant BRCA-EU 12 97338270 97338270 deletion of <=200bp C - intron_variant BRCA-EU 12 97338273 97338273 single base substitution T C intron_variant BRCA-EU 12 97338403 97338403 deletion of <=200bp T - intron_variant BRCA-EU 12 97338554 97338554 single base substitution C T synonymous_variant I456I 1368C>T BRCA-EU 12 97338554 97338554 single base substitution C T synonymous_variant I545I 1635C>T BRCA-EU 12 97338554 97338554 single base substitution C T synonymous_variant I552I 1656C>T BRCA-EU 12 97339074 97339074 single base substitution T C intron_variant BRCA-EU 12 97339330 97339330 single base substitution G A intron_variant BRCA-EU 12 97340106 97340106 single base substitution C G intron_variant BRCA-EU 12 97340504 97340504 single base substitution A C intron_variant BRCA-EU 12 97341355 97341355 single base substitution A G intron_variant BRCA-EU 12 97341687 97341687 single base substitution C T intron_variant BRCA-EU 12 97343196 97343196 insertion of <=200bp - T intron_variant BRCA-EU 12 97343564 97343564 insertion of <=200bp - A intron_variant BRCA-EU 12 97344143 97344143 single base substitution G C intron_variant BRCA-EU 12 97345540 97345540 single base substitution A G intron_variant BRCA-EU 12 97345875 97345875 single base substitution T C 3_prime_UTR_variant BRCA-EU 12 97346500 97346500 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 12 97346500 97346500 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 97347337 97347337 single base substitution A G downstream_gene_variant BRCA-EU 12 97347347 97347347 single base substitution A T downstream_gene_variant BRCA-EU 12 97347847 97347847 insertion of <=200bp - T downstream_gene_variant BRCA-EU 12 97348307 97348307 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 97348868 97348868 single base substitution A T downstream_gene_variant BRCA-EU 12 97349527 97349527 single base substitution G C downstream_gene_variant BRCA-EU 12 97350396 97350396 single base substitution C T downstream_gene_variant BRCA-FR 12 97296142 97296142 single base substitution C T upstream_gene_variant BRCA-FR 12 97302051 97302051 single base substitution G A intron_variant BRCA-FR 12 97302051 97302051 single base substitution G A upstream_gene_variant BRCA-FR 12 97302557 97302557 single base substitution T G intron_variant BRCA-FR 12 97302557 97302557 single base substitution T G upstream_gene_variant BRCA-FR 12 97302966 97302966 single base substitution A G intron_variant BRCA-FR 12 97302966 97302966 single base substitution A G upstream_gene_variant BRCA-FR 12 97315076 97315076 single base substitution C A downstream_gene_variant BRCA-FR 12 97315076 97315076 single base substitution C A intron_variant BRCA-FR 12 97319864 97319864 single base substitution C T downstream_gene_variant BRCA-FR 12 97319864 97319864 single base substitution C T intron_variant BRCA-FR 12 97325974 97325974 single base substitution C T intron_variant BRCA-FR 12 97326747 97326747 single base substitution C G intron_variant BRCA-FR 12 97328346 97328346 single base substitution C G intron_variant BRCA-FR 12 97335458 97335458 single base substitution T C downstream_gene_variant BRCA-FR 12 97335458 97335458 single base substitution T C intron_variant BRCA-FR 12 97335461 97335461 single base substitution T C downstream_gene_variant BRCA-FR 12 97335461 97335461 single base substitution T C intron_variant BRCA-FR 12 97338554 97338554 single base substitution C T synonymous_variant I456I 1368C>T BRCA-FR 12 97338554 97338554 single base substitution C T synonymous_variant I545I 1635C>T BRCA-FR 12 97338554 97338554 single base substitution C T synonymous_variant I552I 1656C>T BRCA-FR 12 97339330 97339330 single base substitution G A intron_variant BRCA-UK 12 97311407 97311407 single base substitution G A 5_prime_UTR_variant BRCA-UK 12 97311407 97311407 single base substitution G A exon_variant BRCA-UK 12 97311407 97311407 single base substitution G A intron_variant BRCA-UK 12 97311407 97311407 single base substitution G A synonymous_variant Q80Q 240G>A BRCA-UK 12 97311407 97311407 single base substitution G A synonymous_variant Q87Q 261G>A BRCA-US 12 97303610 97303610 single base substitution G A exon_variant BRCA-US 12 97303610 97303610 single base substitution G A intron_variant BRCA-US 12 97303610 97303610 single base substitution G A missense_variant V25M 73G>A BRCA-US 12 97303610 97303610 single base substitution G A missense_variant V32M 94G>A BRCA-US 12 97303610 97303610 single base substitution G A upstream_gene_variant BRCA-US 12 97306572 97306572 single base substitution C A 5_prime_UTR_variant BRCA-US 12 97306572 97306572 single base substitution C A exon_variant BRCA-US 12 97306572 97306572 single base substitution C A intron_variant BRCA-US 12 97306572 97306572 single base substitution C A missense_variant P70T 208C>A BRCA-US 12 97306572 97306572 single base substitution C A missense_variant P77T 229C>A BRCA-US 12 97328875 97328875 single base substitution T C downstream_gene_variant BRCA-US 12 97328875 97328875 single base substitution T C exon_variant BRCA-US 12 97328875 97328875 single base substitution T C intron_variant BRCA-US 12 97328875 97328875 single base substitution T C missense_variant V115A 344T>C BRCA-US 12 97328875 97328875 single base substitution T C missense_variant V204A 611T>C BRCA-US 12 97328875 97328875 single base substitution T C missense_variant V211A 632T>C BRCA-US 12 97339470 97339470 single base substitution G C splice_acceptor_variant BTCA-JP 12 97303693 97303693 single base substitution A C intron_variant BTCA-JP 12 97303693 97303693 single base substitution A C upstream_gene_variant BTCA-JP 12 97331094 97331094 single base substitution C T downstream_gene_variant BTCA-JP 12 97331094 97331094 single base substitution C T missense_variant T258M 773C>T BTCA-JP 12 97331094 97331094 single base substitution C T missense_variant T347M 1040C>T BTCA-JP 12 97331094 97331094 single base substitution C T missense_variant T354M 1061C>T BTCA-JP 12 97334147 97334147 single base substitution A T downstream_gene_variant BTCA-JP 12 97334147 97334147 single base substitution A T intron_variant BTCA-JP 12 97345833 97345833 single base substitution A G 3_prime_UTR_variant BTCA-JP 12 97345839 97345839 single base substitution G A 3_prime_UTR_variant CESC-US 12 97330437 97330437 single base substitution C T 3_prime_UTR_variant CESC-US 12 97330437 97330437 single base substitution C T downstream_gene_variant CESC-US 12 97330437 97330437 single base substitution C T exon_variant CESC-US 12 97330437 97330437 single base substitution C T synonymous_variant F167F 501C>T CESC-US 12 97330437 97330437 single base substitution C T synonymous_variant F256F 768C>T CESC-US 12 97330437 97330437 single base substitution C T synonymous_variant F263F 789C>T COAD-US 12 97303568 97303568 single base substitution G A exon_variant COAD-US 12 97303568 97303568 single base substitution G A intron_variant COAD-US 12 97303568 97303568 single base substitution G A missense_variant G11R 31G>A COAD-US 12 97303568 97303568 single base substitution G A missense_variant G18R 52G>A COAD-US 12 97303568 97303568 single base substitution G A upstream_gene_variant COAD-US 12 97330428 97330428 single base substitution G A 3_prime_UTR_variant COAD-US 12 97330428 97330428 single base substitution G A downstream_gene_variant COAD-US 12 97330428 97330428 single base substitution G A exon_variant COAD-US 12 97330428 97330428 single base substitution G A synonymous_variant A164A 492G>A COAD-US 12 97330428 97330428 single base substitution G A synonymous_variant A253A 759G>A COAD-US 12 97330428 97330428 single base substitution G A synonymous_variant A260A 780G>A COAD-US 12 97334208 97334208 single base substitution C G downstream_gene_variant COAD-US 12 97334208 97334208 single base substitution C G missense_variant T291R 872C>G COAD-US 12 97334208 97334208 single base substitution C G missense_variant T380R 1139C>G COAD-US 12 97334208 97334208 single base substitution C G missense_variant T387R 1160C>G COAD-US 12 97338441 97338441 single base substitution G A missense_variant A419T 1255G>A COAD-US 12 97338441 97338441 single base substitution G A missense_variant A508T 1522G>A COAD-US 12 97338441 97338441 single base substitution G A missense_variant A515T 1543G>A COAD-US 12 97339561 97339561 single base substitution C T missense_variant A493V 1478C>T COAD-US 12 97339561 97339561 single base substitution C T missense_variant A582V 1745C>T COAD-US 12 97339561 97339561 single base substitution C T missense_variant A589V 1766C>T COCA-CN 12 97303693 97303693 single base substitution A C intron_variant COCA-CN 12 97303693 97303693 single base substitution A C upstream_gene_variant COCA-CN 12 97306614 97306614 single base substitution T G intron_variant COCA-CN 12 97318654 97318654 single base substitution C A 3_prime_UTR_variant COCA-CN 12 97318654 97318654 single base substitution C A downstream_gene_variant COCA-CN 12 97318654 97318654 single base substitution C A exon_variant COCA-CN 12 97318654 97318654 single base substitution C A intron_variant COCA-CN 12 97323991 97323991 single base substitution T A intron_variant COCA-CN 12 97330495 97330495 single base substitution G T 3_prime_UTR_variant COCA-CN 12 97330495 97330495 single base substitution G T downstream_gene_variant COCA-CN 12 97330495 97330495 single base substitution G T exon_variant COCA-CN 12 97330495 97330495 single base substitution G T missense_variant D187Y 559G>T COCA-CN 12 97330495 97330495 single base substitution G T missense_variant D276Y 826G>T COCA-CN 12 97330495 97330495 single base substitution G T missense_variant D283Y 847G>T COCA-CN 12 97331220 97331220 single base substitution T G downstream_gene_variant COCA-CN 12 97331220 97331220 single base substitution T G intron_variant COCA-CN 12 97336427 97336427 single base substitution C T intron_variant COCA-CN 12 97337199 97337199 single base substitution G A intron_variant COCA-CN 12 97337210 97337210 single base substitution A T intron_variant COCA-CN 12 97338696 97338696 single base substitution G A intron_variant EOPC-DE 12 97313785 97313785 single base substitution G C downstream_gene_variant EOPC-DE 12 97313785 97313785 single base substitution G C exon_variant EOPC-DE 12 97313785 97313785 single base substitution G C missense_variant C124S 371G>C EOPC-DE 12 97313785 97313785 single base substitution G C missense_variant C131S 392G>C EOPC-DE 12 97313785 97313785 single base substitution G C missense_variant C35S 104G>C ESAD-UK 12 97297725 97297725 insertion of <=200bp - T upstream_gene_variant ESAD-UK 12 97297773 97297773 single base substitution T A upstream_gene_variant ESAD-UK 12 97297892 97297892 single base substitution G A upstream_gene_variant ESAD-UK 12 97299698 97299698 single base substitution A G upstream_gene_variant ESAD-UK 12 97300441 97300441 single base substitution C T upstream_gene_variant ESAD-UK 12 97302381 97302381 single base substitution A G intron_variant ESAD-UK 12 97302381 97302381 single base substitution A G upstream_gene_variant ESAD-UK 12 97303683 97303683 single base substitution A T intron_variant ESAD-UK 12 97303683 97303683 single base substitution A T upstream_gene_variant ESAD-UK 12 97304437 97304437 single base substitution G A intron_variant ESAD-UK 12 97304437 97304437 single base substitution G A upstream_gene_variant ESAD-UK 12 97304724 97304724 single base substitution T C intron_variant ESAD-UK 12 97304724 97304724 single base substitution T C upstream_gene_variant ESAD-UK 12 97305378 97305378 single base substitution T A intron_variant ESAD-UK 12 97305378 97305378 single base substitution T A upstream_gene_variant ESAD-UK 12 97305684 97305684 single base substitution C T intron_variant ESAD-UK 12 97305684 97305684 single base substitution C T upstream_gene_variant ESAD-UK 12 97306471 97306471 single base substitution T G 5_prime_UTR_variant ESAD-UK 12 97306471 97306471 single base substitution T G intron_variant ESAD-UK 12 97306611 97306611 single base substitution T C intron_variant ESAD-UK 12 97306918 97306918 single base substitution G A intron_variant ESAD-UK 12 97307227 97307227 single base substitution C G intron_variant ESAD-UK 12 97309046 97309046 single base substitution G T intron_variant ESAD-UK 12 97312092 97312092 deletion of <=200bp T - downstream_gene_variant ESAD-UK 12 97312092 97312092 deletion of <=200bp T - intron_variant ESAD-UK 12 97314488 97314488 single base substitution T C downstream_gene_variant ESAD-UK 12 97314488 97314488 single base substitution T C intron_variant ESAD-UK 12 97315574 97315574 single base substitution A C downstream_gene_variant ESAD-UK 12 97315574 97315574 single base substitution A C intron_variant ESAD-UK 12 97325297 97325300 deletion of <=200bp AAAT - intron_variant ESAD-UK 12 97325688 97325688 single base substitution A T intron_variant ESAD-UK 12 97325892 97325892 single base substitution C T intron_variant ESAD-UK 12 97331131 97331131 single base substitution A G downstream_gene_variant ESAD-UK 12 97331131 97331131 single base substitution A G synonymous_variant S270S 810A>G ESAD-UK 12 97331131 97331131 single base substitution A G synonymous_variant S359S 1077A>G ESAD-UK 12 97331131 97331131 single base substitution A G synonymous_variant S366S 1098A>G ESAD-UK 12 97333149 97333149 single base substitution C A downstream_gene_variant ESAD-UK 12 97333149 97333149 single base substitution C A intron_variant ESAD-UK 12 97333296 97333296 single base substitution G C downstream_gene_variant ESAD-UK 12 97333296 97333296 single base substitution G C intron_variant ESAD-UK 12 97334947 97334947 deletion of <=200bp T - downstream_gene_variant ESAD-UK 12 97334947 97334947 deletion of <=200bp T - intron_variant ESAD-UK 12 97336141 97336141 single base substitution G C intron_variant ESAD-UK 12 97344565 97344565 single base substitution C T intron_variant ESAD-UK 12 97345001 97345001 single base substitution A C intron_variant ESAD-UK 12 97345147 97345147 single base substitution C G intron_variant ESAD-UK 12 97345767 97345788 deletion of <=200bp AAGGTTTAGTGGCTGAAATTGA - frameshift_variant EGLVAEIE551 ESAD-UK 12 97345767 97345788 deletion of <=200bp AAGGTTTAGTGGCTGAAATTGA - frameshift_variant EGLVAEIE640 ESAD-UK 12 97345767 97345788 deletion of <=200bp AAGGTTTAGTGGCTGAAATTGA - frameshift_variant EGLVAEIE647 ESAD-UK 12 97346632 97346632 single base substitution C G 3_prime_UTR_variant ESAD-UK 12 97346632 97346632 single base substitution C G downstream_gene_variant ESAD-UK 12 97349020 97349020 single base substitution C T downstream_gene_variant ESAD-UK 12 97350395 97350395 single base substitution A T downstream_gene_variant ESAD-UK 12 97350552 97350552 single base substitution G C downstream_gene_variant ESAD-UK 12 97350915 97350915 single base substitution G A downstream_gene_variant ESAD-UK 12 97352038 97352038 single base substitution A C downstream_gene_variant ESCA-CN 12 97303552 97303552 single base substitution C G exon_variant ESCA-CN 12 97303552 97303552 single base substitution C G intron_variant ESCA-CN 12 97303552 97303552 single base substitution C G synonymous_variant L12L 36C>G ESCA-CN 12 97303552 97303552 single base substitution C G synonymous_variant L5L 15C>G ESCA-CN 12 97303552 97303552 single base substitution C G upstream_gene_variant ESCA-CN 12 97303574 97303574 single base substitution G A exon_variant ESCA-CN 12 97303574 97303574 single base substitution G A intron_variant ESCA-CN 12 97303574 97303574 single base substitution G A missense_variant D13N 37G>A ESCA-CN 12 97303574 97303574 single base substitution G A missense_variant D20N 58G>A ESCA-CN 12 97303574 97303574 single base substitution G A upstream_gene_variant ESCA-CN 12 97303653 97303653 single base substitution C G exon_variant ESCA-CN 12 97303653 97303653 single base substitution C G intron_variant ESCA-CN 12 97303653 97303653 single base substitution C G stop_gained S39* 116C>G ESCA-CN 12 97303653 97303653 single base substitution C G stop_gained S46* 137C>G ESCA-CN 12 97303653 97303653 single base substitution C G upstream_gene_variant ESCA-CN 12 97311359 97311359 single base substitution C T intron_variant GBM-US 12 97345747 97345747 single base substitution G A synonymous_variant L544L 1632G>A GBM-US 12 97345747 97345747 single base substitution G A synonymous_variant L633L 1899G>A GBM-US 12 97345747 97345747 single base substitution G A synonymous_variant L640L 1920G>A KIRC-US 12 97303545 97303545 single base substitution A T exon_variant KIRC-US 12 97303545 97303545 single base substitution A T intron_variant KIRC-US 12 97303545 97303545 single base substitution A T missense_variant E10V 29A>T KIRC-US 12 97303545 97303545 single base substitution A T missense_variant E3V 8A>T KIRC-US 12 97303545 97303545 single base substitution A T upstream_gene_variant KIRC-US 12 97303613 97303613 single base substitution G C exon_variant KIRC-US 12 97303613 97303613 single base substitution G C intron_variant KIRC-US 12 97303613 97303613 single base substitution G C missense_variant D26H 76G>C KIRC-US 12 97303613 97303613 single base substitution G C missense_variant D33H 97G>C KIRC-US 12 97303613 97303613 single base substitution G C upstream_gene_variant LGG-US 12 97331097 97331097 single base substitution C T downstream_gene_variant LGG-US 12 97331097 97331097 single base substitution C T missense_variant S259F 776C>T LGG-US 12 97331097 97331097 single base substitution C T missense_variant S348F 1043C>T LGG-US 12 97331097 97331097 single base substitution C T missense_variant S355F 1064C>T LICA-FR 12 97310486 97310486 single base substitution A G intron_variant LICA-FR 12 97317567 97317567 insertion of <=200bp - TGTG downstream_gene_variant LICA-FR 12 97317567 97317567 insertion of <=200bp - TGTG intron_variant LICA-FR 12 97331095 97331095 single base substitution G A downstream_gene_variant LICA-FR 12 97331095 97331095 single base substitution G A synonymous_variant T258T 774G>A LICA-FR 12 97331095 97331095 single base substitution G A synonymous_variant T347T 1041G>A LICA-FR 12 97331095 97331095 single base substitution G A synonymous_variant T354T 1062G>A LIHC-US 12 97337446 97337446 single base substitution C A missense_variant S379Y 1136C>A LIHC-US 12 97337446 97337446 single base substitution C A missense_variant S468Y 1403C>A LIHC-US 12 97337446 97337446 single base substitution C A missense_variant S475Y 1424C>A LINC-JP 12 97307191 97307191 single base substitution G A intron_variant LINC-JP 12 97310041 97310041 single base substitution T A intron_variant LINC-JP 12 97322746 97322746 single base substitution G A downstream_gene_variant LINC-JP 12 97322746 97322746 single base substitution G A intron_variant LINC-JP 12 97325725 97325725 single base substitution A G intron_variant LINC-JP 12 97336487 97336487 single base substitution G C intron_variant LINC-JP 12 97338344 97338344 single base substitution T G intron_variant LINC-JP 12 97338504 97338504 single base substitution G T stop_gained E440* 1318G>T LINC-JP 12 97338504 97338504 single base substitution G T stop_gained E529* 1585G>T LINC-JP 12 97338504 97338504 single base substitution G T stop_gained E536* 1606G>T LIRI-JP 12 97296085 97296085 single base substitution T C upstream_gene_variant LIRI-JP 12 97296281 97296281 single base substitution A G upstream_gene_variant LIRI-JP 12 97297084 97297084 single base substitution A G upstream_gene_variant LIRI-JP 12 97298244 97298244 single base substitution T A upstream_gene_variant LIRI-JP 12 97303830 97303830 single base substitution C T intron_variant LIRI-JP 12 97303830 97303830 single base substitution C T upstream_gene_variant LIRI-JP 12 97304553 97304553 single base substitution A C intron_variant LIRI-JP 12 97304553 97304553 single base substitution A C upstream_gene_variant LIRI-JP 12 97304934 97304934 single base substitution A C intron_variant LIRI-JP 12 97304934 97304934 single base substitution A C upstream_gene_variant LIRI-JP 12 97308254 97308254 single base substitution A G intron_variant LIRI-JP 12 97313666 97313666 single base substitution A G downstream_gene_variant LIRI-JP 12 97313666 97313666 single base substitution A G intron_variant LIRI-JP 12 97314652 97314652 single base substitution A G downstream_gene_variant LIRI-JP 12 97314652 97314652 single base substitution A G intron_variant LIRI-JP 12 97314856 97314856 single base substitution G C downstream_gene_variant LIRI-JP 12 97314856 97314856 single base substitution G C intron_variant LIRI-JP 12 97315925 97315925 single base substitution T A downstream_gene_variant LIRI-JP 12 97315925 97315925 single base substitution T A intron_variant LIRI-JP 12 97316230 97316230 single base substitution A G downstream_gene_variant LIRI-JP 12 97316230 97316230 single base substitution A G intron_variant LIRI-JP 12 97319121 97319121 single base substitution C T downstream_gene_variant LIRI-JP 12 97319121 97319121 single base substitution C T intron_variant LIRI-JP 12 97319974 97319974 single base substitution T C downstream_gene_variant LIRI-JP 12 97319974 97319974 single base substitution T C intron_variant LIRI-JP 12 97320263 97320263 single base substitution A T downstream_gene_variant LIRI-JP 12 97320263 97320263 single base substitution A T intron_variant LIRI-JP 12 97321245 97321245 single base substitution T C downstream_gene_variant LIRI-JP 12 97321245 97321245 single base substitution T C intron_variant LIRI-JP 12 97321585 97321585 single base substitution A G downstream_gene_variant LIRI-JP 12 97321585 97321585 single base substitution A G intron_variant LIRI-JP 12 97322147 97322147 single base substitution C T downstream_gene_variant LIRI-JP 12 97322147 97322147 single base substitution C T intron_variant LIRI-JP 12 97325177 97325177 single base substitution A G intron_variant LIRI-JP 12 97325890 97325890 single base substitution C G intron_variant LIRI-JP 12 97326417 97326417 single base substitution A G intron_variant LIRI-JP 12 97327862 97327862 single base substitution T C intron_variant LIRI-JP 12 97328045 97328046 deletion of <=200bp TA - intron_variant LIRI-JP 12 97328559 97328559 single base substitution A G intron_variant LIRI-JP 12 97329676 97329676 single base substitution A T downstream_gene_variant LIRI-JP 12 97329676 97329676 single base substitution A T intron_variant LIRI-JP 12 97330790 97330790 single base substitution A G downstream_gene_variant LIRI-JP 12 97330790 97330790 single base substitution A G intron_variant LIRI-JP 12 97331704 97331704 deletion of <=200bp T - downstream_gene_variant LIRI-JP 12 97331704 97331704 deletion of <=200bp T - intron_variant LIRI-JP 12 97332821 97332821 single base substitution G C downstream_gene_variant LIRI-JP 12 97332821 97332821 single base substitution G C intron_variant LIRI-JP 12 97333368 97333368 single base substitution A G downstream_gene_variant LIRI-JP 12 97333368 97333368 single base substitution A G intron_variant LIRI-JP 12 97336214 97336214 single base substitution A T intron_variant LIRI-JP 12 97336413 97336413 single base substitution C G intron_variant LIRI-JP 12 97337508 97337508 single base substitution G A missense_variant G400R 1198G>A LIRI-JP 12 97337508 97337508 single base substitution G A missense_variant G489R 1465G>A LIRI-JP 12 97337508 97337508 single base substitution G A missense_variant G496R 1486G>A LIRI-JP 12 97339425 97339425 single base substitution C T intron_variant LIRI-JP 12 97340489 97340489 single base substitution T G intron_variant LIRI-JP 12 97346528 97346528 single base substitution A G 3_prime_UTR_variant LIRI-JP 12 97346528 97346528 single base substitution A G downstream_gene_variant LIRI-JP 12 97348920 97348920 single base substitution C T downstream_gene_variant LIRI-JP 12 97348976 97348976 single base substitution C G downstream_gene_variant LIRI-JP 12 97349446 97349446 single base substitution A G downstream_gene_variant LIRI-JP 12 97350021 97350021 single base substitution A G downstream_gene_variant LIRI-JP 12 97350452 97350452 single base substitution A T downstream_gene_variant LIRI-JP 12 97351868 97351868 single base substitution T A downstream_gene_variant LUSC-KR 12 97296305 97296305 single base substitution G T upstream_gene_variant LUSC-KR 12 97300887 97300887 single base substitution C A upstream_gene_variant LUSC-KR 12 97302811 97302811 single base substitution G T intron_variant LUSC-KR 12 97302811 97302811 single base substitution G T upstream_gene_variant LUSC-KR 12 97304349 97304349 single base substitution C G intron_variant LUSC-KR 12 97304349 97304349 single base substitution C G upstream_gene_variant LUSC-KR 12 97308777 97308777 single base substitution T G intron_variant LUSC-KR 12 97315627 97315627 single base substitution C G downstream_gene_variant LUSC-KR 12 97315627 97315627 single base substitution C G intron_variant LUSC-KR 12 97318813 97318813 single base substitution C A downstream_gene_variant LUSC-KR 12 97318813 97318813 single base substitution C A intron_variant LUSC-KR 12 97320442 97320442 single base substitution A C downstream_gene_variant LUSC-KR 12 97320442 97320442 single base substitution A C intron_variant LUSC-KR 12 97321056 97321056 single base substitution G A downstream_gene_variant LUSC-KR 12 97321056 97321056 single base substitution G A intron_variant LUSC-KR 12 97325356 97325356 single base substitution A G intron_variant LUSC-KR 12 97325588 97325588 single base substitution C T intron_variant LUSC-KR 12 97328344 97328344 single base substitution C G intron_variant LUSC-KR 12 97328544 97328544 single base substitution G A intron_variant LUSC-KR 12 97333987 97333987 single base substitution A T downstream_gene_variant LUSC-KR 12 97333987 97333987 single base substitution A T intron_variant LUSC-KR 12 97335925 97335925 single base substitution T G intron_variant LUSC-KR 12 97336999 97336999 single base substitution C A intron_variant LUSC-KR 12 97338445 97338445 single base substitution A C missense_variant E420A 1259A>C LUSC-KR 12 97338445 97338445 single base substitution A C missense_variant E509A 1526A>C LUSC-KR 12 97338445 97338445 single base substitution A C missense_variant E516A 1547A>C LUSC-KR 12 97343702 97343702 single base substitution T C intron_variant LUSC-KR 12 97344287 97344287 single base substitution T C intron_variant LUSC-KR 12 97347262 97347262 single base substitution A G downstream_gene_variant LUSC-KR 12 97347520 97347520 single base substitution T C downstream_gene_variant LUSC-US 12 97311443 97311443 single base substitution G T exon_variant LUSC-US 12 97311443 97311443 single base substitution G T intron_variant LUSC-US 12 97311443 97311443 single base substitution G T missense_variant L3F 9G>T LUSC-US 12 97311443 97311443 single base substitution G T missense_variant L92F 276G>T LUSC-US 12 97311443 97311443 single base substitution G T missense_variant L99F 297G>T LUSC-US 12 97328810 97328810 single base substitution G T downstream_gene_variant LUSC-US 12 97328810 97328810 single base substitution G T exon_variant LUSC-US 12 97328810 97328810 single base substitution G T intron_variant LUSC-US 12 97328810 97328810 single base substitution G T synonymous_variant S182S 546G>T LUSC-US 12 97328810 97328810 single base substitution G T synonymous_variant S189S 567G>T LUSC-US 12 97328810 97328810 single base substitution G T synonymous_variant S93S 279G>T MALY-DE 12 97309317 97309317 single base substitution A G intron_variant MALY-DE 12 97316170 97316170 single base substitution A G downstream_gene_variant MALY-DE 12 97316170 97316170 single base substitution A G intron_variant MALY-DE 12 97316439 97316439 single base substitution A G downstream_gene_variant MALY-DE 12 97316439 97316439 single base substitution A G intron_variant MALY-DE 12 97318865 97318865 single base substitution A G downstream_gene_variant MALY-DE 12 97318865 97318865 single base substitution A G intron_variant MALY-DE 12 97321885 97321885 single base substitution T C downstream_gene_variant MALY-DE 12 97321885 97321885 single base substitution T C intron_variant MALY-DE 12 97323401 97323401 single base substitution A T downstream_gene_variant MALY-DE 12 97323401 97323401 single base substitution A T intron_variant MALY-DE 12 97332800 97332800 single base substitution A C downstream_gene_variant MALY-DE 12 97332800 97332800 single base substitution A C intron_variant MALY-DE 12 97338394 97338394 single base substitution C A intron_variant MALY-DE 12 97346629 97346629 single base substitution G A 3_prime_UTR_variant MALY-DE 12 97346629 97346629 single base substitution G A downstream_gene_variant MALY-DE 12 97348054 97348054 single base substitution A T downstream_gene_variant MELA-AU 12 97296172 97296172 single base substitution G A upstream_gene_variant MELA-AU 12 97296243 97296243 single base substitution C T upstream_gene_variant MELA-AU 12 97296263 97296263 single base substitution G A upstream_gene_variant MELA-AU 12 97296302 97296302 single base substitution C T upstream_gene_variant MELA-AU 12 97296590 97296590 single base substitution G A upstream_gene_variant MELA-AU 12 97296941 97296941 single base substitution C T upstream_gene_variant MELA-AU 12 97297000 97297000 single base substitution C T upstream_gene_variant MELA-AU 12 97297001 97297001 single base substitution C A upstream_gene_variant MELA-AU 12 97297028 97297028 single base substitution G A upstream_gene_variant MELA-AU 12 97297160 97297160 single base substitution C T upstream_gene_variant MELA-AU 12 97297279 97297279 single base substitution G A upstream_gene_variant MELA-AU 12 97297488 97297488 single base substitution C T upstream_gene_variant MELA-AU 12 97297719 97297719 single base substitution C T upstream_gene_variant MELA-AU 12 97298001 97298001 single base substitution G A upstream_gene_variant MELA-AU 12 97298036 97298036 single base substitution C T upstream_gene_variant MELA-AU 12 97298085 97298085 single base substitution T A upstream_gene_variant MELA-AU 12 97298159 97298159 single base substitution G A upstream_gene_variant MELA-AU 12 97298411 97298411 single base substitution C T upstream_gene_variant MELA-AU 12 97298659 97298659 single base substitution G A upstream_gene_variant MELA-AU 12 97298830 97298830 single base substitution T G upstream_gene_variant MELA-AU 12 97299466 97299466 single base substitution C T upstream_gene_variant MELA-AU 12 97299522 97299522 single base substitution G A upstream_gene_variant MELA-AU 12 97299593 97299593 single base substitution A G upstream_gene_variant MELA-AU 12 97300992 97300992 single base substitution C T upstream_gene_variant MELA-AU 12 97302329 97302329 single base substitution T A intron_variant MELA-AU 12 97302329 97302329 single base substitution T A upstream_gene_variant MELA-AU 12 97302558 97302558 single base substitution T C intron_variant MELA-AU 12 97302558 97302558 single base substitution T C upstream_gene_variant MELA-AU 12 97302829 97302829 single base substitution C T intron_variant MELA-AU 12 97302829 97302829 single base substitution C T upstream_gene_variant MELA-AU 12 97304177 97304177 single base substitution C T intron_variant MELA-AU 12 97304177 97304177 single base substitution C T upstream_gene_variant MELA-AU 12 97304455 97304455 single base substitution C T intron_variant MELA-AU 12 97304455 97304455 single base substitution C T upstream_gene_variant MELA-AU 12 97305060 97305060 single base substitution T C intron_variant MELA-AU 12 97305060 97305060 single base substitution T C upstream_gene_variant MELA-AU 12 97306184 97306184 single base substitution C T intron_variant MELA-AU 12 97306184 97306184 single base substitution C T upstream_gene_variant MELA-AU 12 97306620 97306620 single base substitution A G intron_variant MELA-AU 12 97306976 97306976 single base substitution C T intron_variant MELA-AU 12 97308020 97308020 single base substitution T A intron_variant MELA-AU 12 97309069 97309069 single base substitution C T intron_variant MELA-AU 12 97309465 97309465 single base substitution C T intron_variant MELA-AU 12 97310958 97310958 single base substitution T C intron_variant MELA-AU 12 97311089 97311089 single base substitution A T intron_variant MELA-AU 12 97311539 97311539 single base substitution C T downstream_gene_variant MELA-AU 12 97311539 97311539 single base substitution C T intron_variant MELA-AU 12 97311956 97311956 single base substitution T G downstream_gene_variant MELA-AU 12 97311956 97311956 single base substitution T G intron_variant MELA-AU 12 97314115 97314115 single base substitution C T downstream_gene_variant MELA-AU 12 97314115 97314115 single base substitution C T intron_variant MELA-AU 12 97315166 97315166 single base substitution C T downstream_gene_variant MELA-AU 12 97315166 97315166 single base substitution C T intron_variant MELA-AU 12 97315433 97315433 single base substitution A C downstream_gene_variant MELA-AU 12 97315433 97315433 single base substitution A C intron_variant MELA-AU 12 97315819 97315819 single base substitution G A downstream_gene_variant MELA-AU 12 97315819 97315819 single base substitution G A intron_variant MELA-AU 12 97317473 97317473 single base substitution C T downstream_gene_variant MELA-AU 12 97317473 97317473 single base substitution C T intron_variant MELA-AU 12 97317914 97317914 single base substitution C T downstream_gene_variant MELA-AU 12 97317914 97317914 single base substitution C T intron_variant MELA-AU 12 97318134 97318134 single base substitution C T downstream_gene_variant MELA-AU 12 97318134 97318134 single base substitution C T intron_variant MELA-AU 12 97318622 97318622 single base substitution C T downstream_gene_variant MELA-AU 12 97318622 97318622 single base substitution C T exon_variant MELA-AU 12 97318622 97318622 single base substitution C T intron_variant MELA-AU 12 97318822 97318822 single base substitution C T downstream_gene_variant MELA-AU 12 97318822 97318822 single base substitution C T intron_variant MELA-AU 12 97319892 97319892 single base substitution C T downstream_gene_variant MELA-AU 12 97319892 97319892 single base substitution C T intron_variant MELA-AU 12 97320112 97320112 single base substitution C T downstream_gene_variant MELA-AU 12 97320112 97320112 single base substitution C T intron_variant MELA-AU 12 97320272 97320272 single base substitution A T downstream_gene_variant MELA-AU 12 97320272 97320272 single base substitution A T intron_variant MELA-AU 12 97320295 97320295 single base substitution C T downstream_gene_variant MELA-AU 12 97320295 97320295 single base substitution C T intron_variant MELA-AU 12 97320330 97320330 single base substitution T A downstream_gene_variant MELA-AU 12 97320330 97320330 single base substitution T A intron_variant MELA-AU 12 97320629 97320629 single base substitution G A downstream_gene_variant MELA-AU 12 97320629 97320629 single base substitution G A intron_variant MELA-AU 12 97320805 97320805 single base substitution C T downstream_gene_variant MELA-AU 12 97320805 97320805 single base substitution C T intron_variant MELA-AU 12 97320898 97320898 single base substitution T A downstream_gene_variant MELA-AU 12 97320898 97320898 single base substitution T A intron_variant MELA-AU 12 97322327 97322327 single base substitution T A downstream_gene_variant MELA-AU 12 97322327 97322327 single base substitution T A intron_variant MELA-AU 12 97322813 97322813 single base substitution T G downstream_gene_variant MELA-AU 12 97322813 97322813 single base substitution T G intron_variant MELA-AU 12 97323993 97323993 single base substitution T A intron_variant MELA-AU 12 97324293 97324293 single base substitution G C intron_variant MELA-AU 12 97325018 97325018 single base substitution C T intron_variant MELA-AU 12 97325498 97325498 single base substitution C T intron_variant MELA-AU 12 97326712 97326712 single base substitution G A intron_variant MELA-AU 12 97327312 97327312 single base substitution C T intron_variant MELA-AU 12 97327859 97327859 single base substitution C T intron_variant MELA-AU 12 97329005 97329005 single base substitution C T downstream_gene_variant MELA-AU 12 97329005 97329005 single base substitution C T intron_variant MELA-AU 12 97329378 97329378 single base substitution T A downstream_gene_variant MELA-AU 12 97329378 97329378 single base substitution T A intron_variant MELA-AU 12 97329966 97329966 single base substitution C T downstream_gene_variant MELA-AU 12 97329966 97329966 single base substitution C T intron_variant MELA-AU 12 97330603 97330603 single base substitution C T downstream_gene_variant MELA-AU 12 97330603 97330603 single base substitution C T intron_variant MELA-AU 12 97331608 97331608 single base substitution T G downstream_gene_variant MELA-AU 12 97331608 97331608 single base substitution T G intron_variant MELA-AU 12 97332241 97332241 single base substitution T C downstream_gene_variant MELA-AU 12 97332241 97332241 single base substitution T C intron_variant MELA-AU 12 97332273 97332273 single base substitution C T downstream_gene_variant MELA-AU 12 97332273 97332273 single base substitution C T intron_variant MELA-AU 12 97333054 97333054 single base substitution C T downstream_gene_variant MELA-AU 12 97333054 97333054 single base substitution C T intron_variant MELA-AU 12 97333955 97333955 single base substitution C G downstream_gene_variant MELA-AU 12 97333955 97333955 single base substitution C G intron_variant MELA-AU 12 97334173 97334173 single base substitution C T downstream_gene_variant MELA-AU 12 97334173 97334173 single base substitution C T intron_variant MELA-AU 12 97334297 97334297 single base substitution T C downstream_gene_variant MELA-AU 12 97334297 97334297 single base substitution T C missense_variant F321L 961T>C MELA-AU 12 97334297 97334297 single base substitution T C missense_variant F410L 1228T>C MELA-AU 12 97334297 97334297 single base substitution T C missense_variant F417L 1249T>C MELA-AU 12 97334322 97334322 single base substitution C T downstream_gene_variant MELA-AU 12 97334322 97334322 single base substitution C T splice_region_variant MELA-AU 12 97334708 97334708 single base substitution C T downstream_gene_variant MELA-AU 12 97334708 97334708 single base substitution C T intron_variant MELA-AU 12 97334784 97334784 single base substitution C T downstream_gene_variant MELA-AU 12 97334784 97334784 single base substitution C T intron_variant MELA-AU 12 97335753 97335753 single base substitution C T intron_variant MELA-AU 12 97335970 97335970 single base substitution C T intron_variant MELA-AU 12 97336427 97336427 single base substitution C T intron_variant MELA-AU 12 97336756 97336756 single base substitution C T intron_variant MELA-AU 12 97336785 97336785 single base substitution C T intron_variant MELA-AU 12 97336888 97336888 single base substitution C T intron_variant MELA-AU 12 97336946 97336946 single base substitution C T intron_variant MELA-AU 12 97337327 97337327 single base substitution C T intron_variant MELA-AU 12 97338302 97338302 single base substitution C T intron_variant MELA-AU 12 97339227 97339227 single base substitution C T intron_variant MELA-AU 12 97339584 97339584 single base substitution C T missense_variant R501C 1501C>T MELA-AU 12 97339584 97339584 single base substitution C T missense_variant R590C 1768C>T MELA-AU 12 97339584 97339584 single base substitution C T missense_variant R597C 1789C>T MELA-AU 12 97339781 97339781 single base substitution C T intron_variant MELA-AU 12 97339960 97339960 single base substitution C T intron_variant MELA-AU 12 97340028 97340028 single base substitution C T intron_variant MELA-AU 12 97340076 97340076 single base substitution C T intron_variant MELA-AU 12 97340212 97340212 single base substitution C T intron_variant MELA-AU 12 97340861 97340861 single base substitution T G intron_variant MELA-AU 12 97340911 97340911 single base substitution T C intron_variant MELA-AU 12 97341029 97341031 deletion of <=200bp TAG - intron_variant MELA-AU 12 97341084 97341084 single base substitution G A intron_variant MELA-AU 12 97341346 97341346 single base substitution T C intron_variant MELA-AU 12 97341414 97341415 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 97341420 97341420 single base substitution C T intron_variant MELA-AU 12 97341518 97341518 single base substitution C T intron_variant MELA-AU 12 97342254 97342254 single base substitution C T intron_variant MELA-AU 12 97342599 97342599 single base substitution C T intron_variant MELA-AU 12 97342759 97342759 single base substitution C T intron_variant MELA-AU 12 97342780 97342780 single base substitution C T intron_variant MELA-AU 12 97343403 97343403 single base substitution G A intron_variant MELA-AU 12 97344595 97344595 single base substitution T G intron_variant MELA-AU 12 97344808 97344808 single base substitution A T intron_variant MELA-AU 12 97344972 97344972 single base substitution G T intron_variant MELA-AU 12 97345714 97345714 single base substitution C T intron_variant MELA-AU 12 97345847 97345847 single base substitution C A 3_prime_UTR_variant MELA-AU 12 97346109 97346109 single base substitution G A 3_prime_UTR_variant MELA-AU 12 97346109 97346109 single base substitution G A downstream_gene_variant MELA-AU 12 97347249 97347249 single base substitution A T downstream_gene_variant MELA-AU 12 97348949 97348949 single base substitution G A downstream_gene_variant MELA-AU 12 97349670 97349670 single base substitution C T downstream_gene_variant MELA-AU 12 97350461 97350461 single base substitution C T downstream_gene_variant MELA-AU 12 97350755 97350755 single base substitution A T downstream_gene_variant MELA-AU 12 97351119 97351119 single base substitution G A downstream_gene_variant MELA-AU 12 97351223 97351223 single base substitution T G downstream_gene_variant MELA-AU 12 97351647 97351647 single base substitution C T downstream_gene_variant MELA-AU 12 97352044 97352044 single base substitution T G downstream_gene_variant ORCA-IN 12 97300064 97300064 single base substitution C T upstream_gene_variant ORCA-IN 12 97317566 97317566 single base substitution T G downstream_gene_variant ORCA-IN 12 97317566 97317566 single base substitution T G intron_variant ORCA-IN 12 97323144 97323144 deletion of <=200bp C - downstream_gene_variant ORCA-IN 12 97323144 97323144 deletion of <=200bp C - intron_variant ORCA-IN 12 97332613 97332613 single base substitution T A downstream_gene_variant ORCA-IN 12 97332613 97332613 single base substitution T A intron_variant ORCA-IN 12 97338570 97338570 single base substitution C G missense_variant P462A 1384C>G ORCA-IN 12 97338570 97338570 single base substitution C G missense_variant P551A 1651C>G ORCA-IN 12 97338570 97338570 single base substitution C G missense_variant P558A 1672C>G ORCA-IN 12 97340115 97340115 single base substitution A G intron_variant OV-AU 12 97296082 97296082 single base substitution G C upstream_gene_variant OV-AU 12 97298236 97298236 single base substitution G T upstream_gene_variant OV-AU 12 97308938 97308938 single base substitution T A intron_variant OV-AU 12 97311417 97311445 deletion of <=200bp AATTTAAATTCTACATCTATGTATTTGGT - 5_prime_UTR_variant OV-AU 12 97311417 97311445 deletion of <=200bp AATTTAAATTCTACATCTATGTATTTGGT - exon_variant OV-AU 12 97311417 97311445 deletion of <=200bp AATTTAAATTCTACATCTATGTATTTGGT - frameshift_variant MYLV1 OV-AU 12 97311417 97311445 deletion of <=200bp AATTTAAATTCTACATCTATGTATTTGGT - frameshift_variant NLNSTSMYLV84 OV-AU 12 97311417 97311445 deletion of <=200bp AATTTAAATTCTACATCTATGTATTTGGT - frameshift_variant NLNSTSMYLV91 OV-AU 12 97311417 97311445 deletion of <=200bp AATTTAAATTCTACATCTATGTATTTGGT - intron_variant OV-AU 12 97315570 97315570 single base substitution T A downstream_gene_variant OV-AU 12 97315570 97315570 single base substitution T A intron_variant OV-AU 12 97318287 97318287 single base substitution G A downstream_gene_variant OV-AU 12 97318287 97318287 single base substitution G A intron_variant OV-AU 12 97334935 97334935 single base substitution A G downstream_gene_variant OV-AU 12 97334935 97334935 single base substitution A G intron_variant OV-AU 12 97339639 97339639 single base substitution G A intron_variant OV-AU 12 97341510 97341510 single base substitution T A intron_variant OV-AU 12 97347096 97347096 single base substitution A T 3_prime_UTR_variant OV-AU 12 97347096 97347096 single base substitution A T downstream_gene_variant OV-AU 12 97348846 97348846 single base substitution T A downstream_gene_variant OV-AU 12 97352023 97352023 single base substitution A G downstream_gene_variant PACA-AU 12 97299601 97299601 single base substitution C T upstream_gene_variant PACA-AU 12 97299848 97299848 deletion of <=200bp T - upstream_gene_variant PACA-AU 12 97304836 97304836 single base substitution T C intron_variant PACA-AU 12 97304836 97304836 single base substitution T C upstream_gene_variant PACA-AU 12 97304990 97304990 single base substitution T C intron_variant PACA-AU 12 97304990 97304990 single base substitution T C upstream_gene_variant PACA-AU 12 97306000 97306000 single base substitution C G intron_variant PACA-AU 12 97306000 97306000 single base substitution C G upstream_gene_variant PACA-AU 12 97308582 97308582 single base substitution C T intron_variant PACA-AU 12 97309138 97309138 single base substitution G A intron_variant PACA-AU 12 97316528 97316528 single base substitution G T downstream_gene_variant PACA-AU 12 97316528 97316528 single base substitution G T intron_variant PACA-AU 12 97318235 97318238 deletion of <=200bp TATT - downstream_gene_variant PACA-AU 12 97318235 97318238 deletion of <=200bp TATT - intron_variant PACA-AU 12 97320206 97320206 single base substitution A G downstream_gene_variant PACA-AU 12 97320206 97320206 single base substitution A G intron_variant PACA-AU 12 97322752 97322752 single base substitution G A downstream_gene_variant PACA-AU 12 97322752 97322752 single base substitution G A intron_variant PACA-AU 12 97328461 97328461 single base substitution G A intron_variant PACA-AU 12 97329210 97329210 single base substitution T G downstream_gene_variant PACA-AU 12 97329210 97329210 single base substitution T G intron_variant PACA-AU 12 97330699 97330699 single base substitution T C downstream_gene_variant PACA-AU 12 97330699 97330699 single base substitution T C intron_variant PACA-AU 12 97338595 97338595 single base substitution A G intron_variant PACA-AU 12 97342311 97342311 single base substitution A T intron_variant PACA-AU 12 97347912 97347912 deletion of <=200bp A - downstream_gene_variant PACA-CA 12 97296985 97296985 single base substitution C T upstream_gene_variant PACA-CA 12 97297322 97297322 single base substitution T G upstream_gene_variant PACA-CA 12 97298198 97298198 insertion of <=200bp - T upstream_gene_variant PACA-CA 12 97298906 97298906 single base substitution C T upstream_gene_variant PACA-CA 12 97299930 97299930 single base substitution C T upstream_gene_variant PACA-CA 12 97300529 97300529 single base substitution A G upstream_gene_variant PACA-CA 12 97300562 97300562 single base substitution T C upstream_gene_variant PACA-CA 12 97303693 97303693 insertion of <=200bp - C intron_variant PACA-CA 12 97303693 97303693 insertion of <=200bp - C upstream_gene_variant PACA-CA 12 97306960 97306960 single base substitution G A intron_variant PACA-CA 12 97311491 97311492 deletion of <=200bp AA - downstream_gene_variant PACA-CA 12 97311491 97311492 deletion of <=200bp AA - exon_variant PACA-CA 12 97311491 97311492 deletion of <=200bp AA - frameshift_variant SK108 PACA-CA 12 97311491 97311492 deletion of <=200bp AA - frameshift_variant SK115 PACA-CA 12 97311491 97311492 deletion of <=200bp AA - frameshift_variant SK19 PACA-CA 12 97311491 97311492 deletion of <=200bp AA - intron_variant PACA-CA 12 97312180 97312188 deletion of <=200bp AATATGAAA - downstream_gene_variant PACA-CA 12 97312180 97312188 deletion of <=200bp AATATGAAA - intron_variant PACA-CA 12 97315117 97315122 deletion of <=200bp GCCCAG - downstream_gene_variant PACA-CA 12 97315117 97315122 deletion of <=200bp GCCCAG - intron_variant PACA-CA 12 97317317 97317317 single base substitution G A downstream_gene_variant PACA-CA 12 97317317 97317317 single base substitution G A intron_variant PACA-CA 12 97318051 97318051 single base substitution T G downstream_gene_variant PACA-CA 12 97318051 97318051 single base substitution T G intron_variant PACA-CA 12 97318527 97318527 single base substitution C T downstream_gene_variant PACA-CA 12 97318527 97318527 single base substitution C T intron_variant PACA-CA 12 97319388 97319388 single base substitution T C downstream_gene_variant PACA-CA 12 97319388 97319388 single base substitution T C intron_variant PACA-CA 12 97322409 97322409 single base substitution T G downstream_gene_variant PACA-CA 12 97322409 97322409 single base substitution T G intron_variant PACA-CA 12 97323989 97323989 single base substitution A T intron_variant PACA-CA 12 97323991 97323991 single base substitution T A intron_variant PACA-CA 12 97325689 97325689 single base substitution T A intron_variant PACA-CA 12 97336362 97336362 single base substitution A T synonymous_variant V329V 987A>T PACA-CA 12 97336362 97336362 single base substitution A T synonymous_variant V418V 1254A>T PACA-CA 12 97336362 97336362 single base substitution A T synonymous_variant V425V 1275A>T PACA-CA 12 97344363 97344363 single base substitution A G intron_variant PACA-CA 12 97344858 97344858 single base substitution C T intron_variant PACA-CA 12 97349662 97349662 insertion of <=200bp - T downstream_gene_variant PACA-CA 12 97350827 97350827 single base substitution G A downstream_gene_variant PAEN-AU 12 97341561 97341561 single base substitution G T intron_variant PBCA-DE 12 97298315 97298315 single base substitution T A upstream_gene_variant PBCA-DE 12 97332687 97332687 single base substitution G A downstream_gene_variant PBCA-DE 12 97332687 97332687 single base substitution G A intron_variant PRAD-CA 12 97296406 97296406 single base substitution G A upstream_gene_variant PRAD-CA 12 97299954 97299954 single base substitution T C upstream_gene_variant PRAD-CA 12 97315952 97315952 single base substitution G A downstream_gene_variant PRAD-CA 12 97315952 97315952 single base substitution G A intron_variant PRAD-CA 12 97323991 97323991 single base substitution T A intron_variant PRAD-CA 12 97334652 97334652 single base substitution G A downstream_gene_variant PRAD-CA 12 97334652 97334652 single base substitution G A intron_variant PRAD-UK 12 97297652 97297652 single base substitution T C upstream_gene_variant PRAD-UK 12 97303411 97303411 single base substitution A C intron_variant PRAD-UK 12 97303411 97303411 single base substitution A C upstream_gene_variant PRAD-UK 12 97306558 97306558 single base substitution A T 5_prime_UTR_variant PRAD-UK 12 97306558 97306558 single base substitution A T exon_variant PRAD-UK 12 97306558 97306558 single base substitution A T intron_variant PRAD-UK 12 97306558 97306558 single base substitution A T missense_variant K65I 194A>T PRAD-UK 12 97306558 97306558 single base substitution A T missense_variant K72I 215A>T PRAD-UK 12 97336007 97336007 single base substitution A G intron_variant READ-US 12 97328953 97328953 single base substitution G T downstream_gene_variant READ-US 12 97328953 97328953 single base substitution G T exon_variant READ-US 12 97328953 97328953 single base substitution G T intron_variant READ-US 12 97328953 97328953 single base substitution G T missense_variant R141I 422G>T READ-US 12 97328953 97328953 single base substitution G T missense_variant R230I 689G>T READ-US 12 97328953 97328953 single base substitution G T missense_variant R237I 710G>T RECA-EU 12 97300348 97300348 single base substitution T G upstream_gene_variant RECA-EU 12 97314039 97314039 single base substitution T A downstream_gene_variant RECA-EU 12 97314039 97314039 single base substitution T A intron_variant RECA-EU 12 97328577 97328577 single base substitution A T intron_variant RECA-EU 12 97330966 97330966 single base substitution T A downstream_gene_variant RECA-EU 12 97330966 97330966 single base substitution T A intron_variant RECA-EU 12 97334979 97334979 single base substitution T C downstream_gene_variant RECA-EU 12 97334979 97334979 single base substitution T C intron_variant RECA-EU 12 97335989 97335989 single base substitution A C intron_variant RECA-EU 12 97339810 97339810 single base substitution A T intron_variant RECA-EU 12 97339979 97339979 single base substitution C T intron_variant RECA-EU 12 97340013 97340013 single base substitution A C intron_variant RECA-EU 12 97342897 97342897 single base substitution A T intron_variant RECA-EU 12 97352061 97352061 single base substitution A T downstream_gene_variant SKCA-BR 12 97296467 97296467 single base substitution C T upstream_gene_variant SKCA-BR 12 97296906 97296906 single base substitution C T upstream_gene_variant SKCA-BR 12 97296993 97296993 single base substitution A T upstream_gene_variant SKCA-BR 12 97298913 97298913 single base substitution C T upstream_gene_variant SKCA-BR 12 97309855 97309855 single base substitution T C intron_variant SKCA-BR 12 97314574 97314574 single base substitution C T downstream_gene_variant SKCA-BR 12 97314574 97314574 single base substitution C T intron_variant SKCA-BR 12 97315553 97315553 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 12 97315553 97315553 insertion of <=200bp - AT intron_variant SKCA-BR 12 97317920 97317920 single base substitution G A downstream_gene_variant SKCA-BR 12 97317920 97317920 single base substitution G A intron_variant SKCA-BR 12 97322495 97322495 single base substitution C T downstream_gene_variant SKCA-BR 12 97322495 97322495 single base substitution C T intron_variant SKCA-BR 12 97322689 97322689 single base substitution C T downstream_gene_variant SKCA-BR 12 97322689 97322689 single base substitution C T intron_variant SKCA-BR 12 97323158 97323158 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 12 97323158 97323158 insertion of <=200bp - AT intron_variant SKCA-BR 12 97323549 97323556 deletion of <=200bp GGACACAC - downstream_gene_variant SKCA-BR 12 97323549 97323556 deletion of <=200bp GGACACAC - intron_variant SKCA-BR 12 97329638 97329638 single base substitution A G downstream_gene_variant SKCA-BR 12 97329638 97329638 single base substitution A G intron_variant SKCA-BR 12 97329667 97329667 single base substitution C T downstream_gene_variant SKCA-BR 12 97329667 97329667 single base substitution C T intron_variant SKCA-BR 12 97333892 97333892 single base substitution C T downstream_gene_variant SKCA-BR 12 97333892 97333892 single base substitution C T intron_variant SKCA-BR 12 97338627 97338627 single base substitution C T intron_variant SKCA-BR 12 97339127 97339127 single base substitution C T intron_variant SKCA-BR 12 97342022 97342022 single base substitution C T intron_variant SKCA-BR 12 97343811 97343811 single base substitution A G intron_variant SKCA-BR 12 97344693 97344693 single base substitution C T intron_variant SKCA-BR 12 97347152 97347152 single base substitution A G downstream_gene_variant SKCA-BR 12 97348890 97348890 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 12 97349075 97349075 single base substitution T A downstream_gene_variant SKCA-BR 12 97349806 97349806 single base substitution C T downstream_gene_variant SKCA-BR 12 97351051 97351052 deletion of <=200bp TA - downstream_gene_variant SKCM-US 12 97306520 97306520 single base substitution A G 5_prime_UTR_variant SKCM-US 12 97306520 97306520 single base substitution A G exon_variant SKCM-US 12 97306520 97306520 single base substitution A G intron_variant SKCM-US 12 97306520 97306520 single base substitution A G synonymous_variant A52A 156A>G SKCM-US 12 97306520 97306520 single base substitution A G synonymous_variant A59A 177A>G SKCM-US 12 97311490 97311490 single base substitution C T downstream_gene_variant SKCM-US 12 97311490 97311490 single base substitution C T exon_variant SKCM-US 12 97311490 97311490 single base substitution C T intron_variant SKCM-US 12 97311490 97311490 single base substitution C T missense_variant S108L 323C>T SKCM-US 12 97311490 97311490 single base substitution C T missense_variant S115L 344C>T SKCM-US 12 97311490 97311490 single base substitution C T missense_variant S19L 56C>T SKCM-US 12 97328853 97328853 single base substitution C T downstream_gene_variant SKCM-US 12 97328853 97328853 single base substitution C T exon_variant SKCM-US 12 97328853 97328853 single base substitution C T intron_variant SKCM-US 12 97328853 97328853 single base substitution C T missense_variant P108S 322C>T SKCM-US 12 97328853 97328853 single base substitution C T missense_variant P197S 589C>T SKCM-US 12 97328853 97328853 single base substitution C T missense_variant P204S 610C>T SKCM-US 12 97334297 97334297 single base substitution T C downstream_gene_variant SKCM-US 12 97334297 97334297 single base substitution T C missense_variant F321L 961T>C SKCM-US 12 97334297 97334297 single base substitution T C missense_variant F410L 1228T>C SKCM-US 12 97334297 97334297 single base substitution T C missense_variant F417L 1249T>C SKCM-US 12 97339513 97339513 single base substitution C T missense_variant S477L 1430C>T SKCM-US 12 97339513 97339513 single base substitution C T missense_variant S566L 1697C>T SKCM-US 12 97339513 97339513 single base substitution C T missense_variant S573L 1718C>T SKCM-US 12 97339573 97339573 single base substitution C T missense_variant S497F 1490C>T SKCM-US 12 97339573 97339573 single base substitution C T missense_variant S586F 1757C>T SKCM-US 12 97339573 97339573 single base substitution C T missense_variant S593F 1778C>T SKCM-US 12 97339584 97339584 single base substitution C T missense_variant R501C 1501C>T SKCM-US 12 97339584 97339584 single base substitution C T missense_variant R590C 1768C>T SKCM-US 12 97339584 97339584 single base substitution C T missense_variant R597C 1789C>T SKCM-US 12 97345795 97345795 single base substitution A T synonymous_variant L560L 1680A>T SKCM-US 12 97345795 97345795 single base substitution A T synonymous_variant L649L 1947A>T SKCM-US 12 97345795 97345795 single base substitution A T synonymous_variant L656L 1968A>T STAD-US 12 97334215 97334216 deletion of <=200bp TT - downstream_gene_variant STAD-US 12 97334215 97334216 deletion of <=200bp TT - frameshift_variant TL293 STAD-US 12 97334215 97334216 deletion of <=200bp TT - frameshift_variant TL382 STAD-US 12 97334215 97334216 deletion of <=200bp TT - frameshift_variant TL389 STAD-US 12 97337417 97337417 single base substitution T C synonymous_variant H369H 1107T>C STAD-US 12 97337417 97337417 single base substitution T C synonymous_variant H458H 1374T>C STAD-US 12 97337417 97337417 single base substitution T C synonymous_variant H465H 1395T>C STAD-US 12 97337434 97337434 deletion of <=200bp T - frameshift_variant V375 STAD-US 12 97337434 97337434 deletion of <=200bp T - frameshift_variant V464 STAD-US 12 97337434 97337434 deletion of <=200bp T - frameshift_variant V471 STAD-US 12 97345236 97345236 single base substitution A T missense_variant N524I 1571A>T STAD-US 12 97345236 97345236 single base substitution A T missense_variant N613I 1838A>T STAD-US 12 97345236 97345236 single base substitution A T missense_variant N620I 1859A>T STAD-US 12 97345812 97345812 single base substitution G T missense_variant R566I 1697G>T STAD-US 12 97345812 97345812 single base substitution G T missense_variant R655I 1964G>T STAD-US 12 97345812 97345812 single base substitution G T missense_variant R662I 1985G>T THCA-SA 12 97346279 97346279 single base substitution T C 3_prime_UTR_variant THCA-SA 12 97346279 97346279 single base substitution T C downstream_gene_variant UCEC-US 12 97328801 97328801 single base substitution C T downstream_gene_variant UCEC-US 12 97328801 97328801 single base substitution C T exon_variant UCEC-US 12 97328801 97328801 single base substitution C T intron_variant UCEC-US 12 97328801 97328801 single base substitution C T synonymous_variant G179G 537C>T UCEC-US 12 97328801 97328801 single base substitution C T synonymous_variant G186G 558C>T UCEC-US 12 97328801 97328801 single base substitution C T synonymous_variant G90G 270C>T UCEC-US 12 97328883 97328883 single base substitution G T downstream_gene_variant UCEC-US 12 97328883 97328883 single base substitution G T exon_variant UCEC-US 12 97328883 97328883 single base substitution G T intron_variant UCEC-US 12 97328883 97328883 single base substitution G T missense_variant A118S 352G>T UCEC-US 12 97328883 97328883 single base substitution G T missense_variant A207S 619G>T UCEC-US 12 97328883 97328883 single base substitution G T missense_variant A214S 640G>T UCEC-US 12 97330475 97330475 single base substitution G A 3_prime_UTR_variant UCEC-US 12 97330475 97330475 single base substitution G A downstream_gene_variant UCEC-US 12 97330475 97330475 single base substitution G A exon_variant UCEC-US 12 97330475 97330475 single base substitution G A missense_variant R180Q 539G>A UCEC-US 12 97330475 97330475 single base substitution G A missense_variant R269Q 806G>A UCEC-US 12 97330475 97330475 single base substitution G A missense_variant R276Q 827G>A UCEC-US 12 97339486 97339486 single base substitution C A missense_variant S468Y 1403C>A UCEC-US 12 97339486 97339486 single base substitution C A missense_variant S557Y 1670C>A UCEC-US 12 97339486 97339486 single base substitution C A missense_variant S564Y 1691C>A UCEC-US 12 97339584 97339584 single base substitution C A missense_variant R501S 1501C>A UCEC-US 12 97339584 97339584 single base substitution C A missense_variant R590S 1768C>A UCEC-US 12 97339584 97339584 single base substitution C A missense_variant R597S 1789C>A UCEC-US 12 97339612 97339612 single base substitution C T missense_variant T510M 1529C>T UCEC-US 12 97339612 97339612 single base substitution C T missense_variant T599M 1796C>T UCEC-US 12 97339612 97339612 single base substitution C T missense_variant T606M 1817C>T UCEC-US 12 97345270 97345270 single base substitution G A missense_variant M535I 1605G>A UCEC-US 12 97345270 97345270 single base substitution G A missense_variant M624I 1872G>A UCEC-US 12 97345270 97345270 single base substitution G A missense_variant M631I 1893G>A UCEC-US 12 97345796 97345796 single base substitution C T stop_gained R561* 1681C>T UCEC-US 12 97345796 97345796 single base substitution C T stop_gained R650* 1948C>T UCEC-US 12 97345796 97345796 single base substitution C T stop_gained R657* 1969C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand EOPC-018_tumor COSM5950359 c.392G>C p.C131S Substitution - Missense 12:96920007-96920007 + I2L-P19Tb-Tumor-Organoid COSM5361612 c.1757G>A p.R586Q Substitution - Missense 12:96945774-96945774 + BCM501T COSM4951946 c.1041G>A p.T347T Substitution - coding silent 12:96937317-96937317 + TCGA-D9-A6EA-06 COSM4397824 c.1718C>T p.S573L Substitution - Missense 12:96945735-96945735 + TCGA-AP-A051-01 COSM944799 c.1872G>A p.M624I Substitution - Missense 12:96951492-96951492 + 587376 COSM1217007 c.1596G>T p.E532D Substitution - Missense 12:96944737-96944737 + CSCC-38-T COSM4529552 c.1600G>A p.E534K Substitution - Missense 12:96944741-96944741 + I2L-P19Tb-Tumor-Organoid COSM5361613 c.1736G>A p.R579Q Substitution - Missense 12:96945774-96945774 + TCGA-E1-5322-01 COSM3968509 c.1064C>T p.S355F Substitution - Missense 12:96937319-96937319 + HT115 COSM2046870 c.338G>A p.R113Q Substitution - Missense 12:96917727-96917727 + TCGA-19-2624 COSM2156230 c.1899G>A p.L633L Substitution - coding silent 12:96951969-96951969 + TCGA-EI-6917-01 COSM174270 c.689G>T p.R230I Substitution - Missense 12:96935175-96935175 + OSCC-GB_00980111 COSM4882123 c.1651C>G p.P551A Substitution - Missense 12:96944792-96944792 + TCGA-18-3419-01 COSM696260 c.276G>T p.L92F Substitution - Missense 12:96917665-96917665 + TCGA-EE-A2MF-06 COSM4892652 c.1228T>C p.F410L Substitution - Missense 12:96940519-96940519 + STC297 COSM5052010 c.1932T>G p.A644A Substitution - coding silent 12:96952002-96952002 + TCGA-EK-A2PG-01 COSM4819931 c.768C>T p.F256F Substitution - coding silent 12:96936659-96936659 + PT52 COSM5940301 c.496C>T p.R166W Substitution - Missense 12:96934982-96934982 + PD6549a COSM3719766 c.569A>G p.D190G Substitution - Missense 12:96935034-96935034 + PCSI_0280_Pa_P_526 COSM4807637 c.1275A>T p.V425V Substitution - coding silent 12:96942584-96942584 + T2269 COSM4706316 c.358C>T p.R120* Substitution - Nonsense 12:96917726-96917726 + TCGA-E2-A2P6-01 COSM3813258 c.94G>A p.V32M Substitution - Missense 12:96909832-96909832 + LP6005935-DNA_E01 COSM4212273 c.136+10A>T p.? Unknown 12:96909905-96909905 + TCGA-AO-A03M-01 COSM3813265 c.1655-1G>C p.? Unknown 12:96945692-96945692 + Gp5D COSM2046883 c.983T>A p.V328E Substitution - Missense 12:96937259-96937259 + LP6005935-DNA_E01 COSM4212272 c.157+10A>T p.? Unknown 12:96909905-96909905 + TCGA-D9-A3Z1-06 COSM3466746 c.610C>T p.P204S Substitution - Missense 12:96935075-96935075 + NB-1155 COSM1286546 c.672C>G p.T224T Substitution - coding silent 12:96935158-96935158 + 4537_T COSM3955333 c.1654A>G p.I552V Substitution - Missense 12:96944774-96944774 + EGC15 COSM5052007 c.1737C>T p.A579A Substitution - coding silent 12:96945754-96945754 + BD14T COSM5517184 c.1040C>T p.T347M Substitution - Missense 12:96937316-96937316 + Gp5D COSM2046893 c.1906T>C p.Y636H Substitution - Missense 12:96951976-96951976 + YUJUBE COSM5376246 c.1715_1716CC>TT p.A572V Substitution - Missense 12:96945753-96945754 + B104-0-Tumor COSM3931772 c.373C>G p.H125D Substitution - Missense 12:96919988-96919988 + YUKAT COSM5376243 c.1706G>A p.G569E Substitution - Missense 12:96945723-96945723 + Gp2D COSM2046883 c.983T>A p.V328E Substitution - Missense 12:96937259-96937259 + TCGA-EK-A2PG-01 COSM4819930 c.789C>T p.F263F Substitution - coding silent 12:96936659-96936659 + PTC-14C COSM4147533 c.269T>A p.V90D Substitution - Missense 12:96917637-96917637 + TCGA-RP-A695-06 COSM4896529 c.1947A>T p.L649L Substitution - coding silent 12:96952017-96952017 + XHDG08C COSM4770171 c.157+7delT p.? Unknown 12:96909902-96909902 + TCGA-G4-6628-01 COSM5180028 c.1543G>A p.A515T Substitution - Missense 12:96944663-96944663 + TCGA-CD-A4MG-01 COSM4045571 c.1395T>C p.H465H Substitution - coding silent 12:96943639-96943639 + 2250164 COSM4212271 c.136+9T>A p.? Unknown 12:96909904-96909904 + TCGA-D9-A3Z1-06 COSM3466747 c.589C>T p.P197S Substitution - Missense 12:96935075-96935075 + TCGA-B0-4828-01 COSM3359985 c.29A>T p.E10V Substitution - Missense 12:96909767-96909767 + B104-0-Tumor COSM1747311 c.352C>G p.H118D Substitution - Missense 12:96919988-96919988 + Au9 COSM5607517 c.96G>A p.V32V Substitution - coding silent 12:96909834-96909834 + TCGA-04-1369-01 COSM1323001 c.436C>A p.H146N Substitution - Missense 12:96920072-96920072 + I2L-P19Tb-Tumor-Biopsy COSM5361613 c.1736G>A p.R579Q Substitution - Missense 12:96945774-96945774 + TCGA-AA-3989-01 COSM298011 c.354T>C p.H118H Substitution - coding silent 12:96919990-96919990 + PD13765a COSM5797575 c.168C>T p.G56G Substitution - coding silent 12:96912754-96912754 + TCGA-FW-A3R5-06 COSM3872750 c.1789C>T p.R597C Substitution - Missense 12:96945806-96945806 + CSCC-44-T COSM4473992 c.1867C>T p.H623Y Substitution - Missense 12:96951487-96951487 + PD4123a COSM162867 c.240G>A p.Q80Q Substitution - coding silent 12:96917629-96917629 + TCGA-B8-5551-01 COSM469112 c.663C>G p.L221L Substitution - coding silent 12:96935149-96935149 + C10 COSM4616462 c.113G>T p.S38I Substitution - Missense 12:96909872-96909872 + TCGA-ER-A19B-06 COSM3466743 c.156A>G p.A52A Substitution - coding silent 12:96912742-96912742 + TCGA-B8-5159-01 COSM469111 c.76G>C p.D26H Substitution - Missense 12:96909835-96909835 + TCGA-19-2624-01 COSM3399206 c.1920G>A p.L640L Substitution - coding silent 12:96951969-96951969 + TCGA-AO-A128-01 COSM3813263 c.611T>C p.V204A Substitution - Missense 12:96935097-96935097 + TCGA-E1-5322-01 COSM3968510 c.1043C>T p.S348F Substitution - Missense 12:96937319-96937319 + I2L-P7-Tumor-Organoid COSM5361885 c.203C>A p.P68H Substitution - Missense 12:96912789-96912789 + SC_9030 COSM5548136 c.252+9delT p.? Unknown 12:96912826-96912826 + TCGA-AP-A056-01 COSM944800 c.1948C>T p.R650* Substitution - Nonsense 12:96952018-96952018 + TCGA-AO-A03M-01 COSM3813264 c.1676-1G>C p.? Unknown 12:96945692-96945692 + TCGA-BS-A0TE-01 COSM944793 c.537C>T p.G179G Substitution - coding silent 12:96935023-96935023 + C0070T COSM4152686 c.922-10T>A p.? Unknown 12:96937188-96937188 + ESCC_10 COSM5623791 c.16G>A p.A6T Substitution - Missense 12:96909754-96909754 + TCGA-CD-A4MG-01 COSM4045572 c.1374T>C p.H458H Substitution - coding silent 12:96943639-96943639 + BCM501T COSM4951946 c.1041G>A p.T347T Substitution - coding silent 12:96937317-96937317 + TCGA-DK-A3IU-01 COSM3793061 c.1910C>G p.S637* Substitution - Nonsense 12:96951980-96951980 + TCGA-AA-A00N-01 COSM276293 c.1127G>A p.R376Q Substitution - Missense 12:96940418-96940418 + T3535 COSM4706319 c.1327T>C p.F443L Substitution - Missense 12:96943592-96943592 + TCGA-A6-6653-01 COSM5092049 c.1766C>T p.A589V Substitution - Missense 12:96945783-96945783 + YUKAT COSM5376244 c.1685G>A p.G562E Substitution - Missense 12:96945723-96945723 + EGC15 COSM5052008 c.1716C>T p.A572A Substitution - coding silent 12:96945754-96945754 + TCGA-D1-A17Q-01 COSM944796 c.1670C>A p.S557Y Substitution - Missense 12:96945708-96945708 + TCGA-61-1907-01 COSM1323000 c.610G>T p.V204L Substitution - Missense 12:96935096-96935096 + Au9 COSM5607518 c.75G>A p.V25V Substitution - coding silent 12:96909834-96909834 + TCGA-AA-A010-01 COSM299367 c.1118-8C>T p.? Unknown 12:96940401-96940401 + TCGA-ER-A19B-06 COSM3466742 c.177A>G p.A59A Substitution - coding silent 12:96912742-96912742 + Gp2D COSM2046893 c.1906T>C p.Y636H Substitution - Missense 12:96951976-96951976 + HT115 COSM4212301 c.359G>A p.R120Q Substitution - Missense 12:96917727-96917727 + BCM501T COSM4951945 c.1062G>A p.T354T Substitution - coding silent 12:96937317-96937317 + TCGA-AP-A059-01 COSM944798 c.1796C>T p.T599M Substitution - Missense 12:96945834-96945834 + Pat_59_B COSM5842079 c.1235C>T p.P412L Substitution - Missense 12:96940526-96940526 + TCGA-AC-A3OD-01 COSM3813260 c.229C>A p.P77T Substitution - Missense 12:96912794-96912794 + NPC14F COSM4995188 c.1724C>T p.S575L Substitution - Missense 12:96945741-96945741 + pfg181T COSM4759119 c.7G>A p.E3K Substitution - Missense 12:96909766-96909766 + TCGA-FW-A3R5-06 COSM198840 c.1768C>T p.R590C Substitution - Missense 12:96945806-96945806 + AD45 COSM5966541 c.886T>A p.C296S Substitution - Missense 12:96936777-96936777 + SNU-C2B COSM2046880 c.806delG p.I272fs*6 Deletion - Frameshift 12:96936697-96936697 + T2269 COSM4706317 c.337C>T p.R113* Substitution - Nonsense 12:96917726-96917726 + TCGA-G4-6628-01 COSM1365017 c.1522G>A p.A508T Substitution - Missense 12:96944663-96944663 + S02404 COSM5700703 c.14G>T p.G5V Substitution - Missense 12:96909752-96909752 + LUAD-NYU1219 COSM369877 c.1462A>G p.M488V Substitution - Missense 12:96943727-96943727 + TCGA-E2-A2P6-01 COSM3813259 c.73G>A p.V25M Substitution - Missense 12:96909832-96909832 + ESCC-083T COSM3936217 c.37G>A p.D13N Substitution - Missense 12:96909796-96909796 + 2250164 COSM4212270 c.157+9T>A p.? Unknown 12:96909904-96909904 + I2L-P7-Tumor-Organoid COSM5361884 c.224C>A p.P75H Substitution - Missense 12:96912789-96912789 + PT52 COSM5940300 c.517C>T p.R173W Substitution - Missense 12:96934982-96934982 + YUJUBE COSM5376245 c.1736_1737CC>TT p.A579V Substitution - Missense 12:96945753-96945754 + TCGA-60-2725-01 COSM696258 c.546G>T p.S182S Substitution - coding silent 12:96935032-96935032 + TCGA-A6-6653-01 COSM1365018 c.1745C>T p.A582V Substitution - Missense 12:96945783-96945783 + TCGA-D9-A6EA-06 COSM4398347 c.1778C>T p.S593F Substitution - Missense 12:96945795-96945795 + NCI-H716 COSM4212310 c.766A>C p.T256P Substitution - Missense 12:96936636-96936636 + PD13765a COSM5797574 c.189C>T p.G63G Substitution - coding silent 12:96912754-96912754 + PTC-14C COSM4147534 c.248T>A p.V83D Substitution - Missense 12:96917637-96917637 + TARGET-30-PARRLH COSM1286545 c.248T>C p.V83A Substitution - Missense 12:96917637-96917637 + Gp2D COSM4212323 c.1927T>C p.Y643H Substitution - Missense 12:96951976-96951976 + XHDG08C COSM4770172 c.136+7delT p.? Unknown 12:96909902-96909902 + TCGA-G2-A3VY-01 COSM3793059 c.1057C>G p.L353V Substitution - Missense 12:96937333-96937333 + EOPC-018_tumor COSM5950360 c.371G>C p.C124S Substitution - Missense 12:96920007-96920007 + LUAD-E00934 COSM393224 c.1790A>G p.Q597R Substitution - Missense 12:96945828-96945828 + STC297 COSM5052009 c.1953T>G p.A651A Substitution - coding silent 12:96952002-96952002 + ESCC-083T COSM3936216 c.58G>A p.D20N Substitution - Missense 12:96909796-96909796 + 587350 COSM1217005 c.20T>C p.F7S Substitution - Missense 12:96909779-96909779 + T155 COSM1176699 c.971G>A p.R324Q Substitution - Missense 12:96937247-96937247 + PD6549a COSM3719767 c.548A>G p.D183G Substitution - Missense 12:96935034-96935034 + NCI-H716 COSM2046877 c.745A>C p.T249P Substitution - Missense 12:96936636-96936636 + TCGA-EI-6917-01 COSM3417302 c.710G>T p.R237I Substitution - Missense 12:96935175-96935175 + TCGA-BR-8680-01 COSM4045576 c.1964G>T p.R655I Substitution - Missense 12:96952034-96952034 + TCGA-BR-8680-01 COSM4045575 c.1985G>T p.R662I Substitution - Missense 12:96952034-96952034 + RK026_C01 COSM1628948 c.136+10delA p.? Unknown 12:96909905-96909905 + TCGA-AZ-4315-01 COSM5827333 c.1160C>G p.T387R Substitution - Missense 12:96940430-96940430 + B104-0 COSM1747311 c.352C>G p.H118D Substitution - Missense 12:96919988-96919988 + TCGA-BS-A0UF-01 COSM944797 c.1768C>A p.R590S Substitution - Missense 12:96945806-96945806 + TCGA-BR-4279-01 COSM4045574 c.1838A>T p.N613I Substitution - Missense 12:96951458-96951458 + I2L-P7-Tumor-Organoid COSM5361340 c.252+8_252+10delATT p.? Unknown 12:96912825-96912827 + TCGA-CC-A7IK-01 COSM4924635 c.1403C>A p.S468Y Substitution - Missense 12:96943668-96943668 + I2L-P25-Tumor-Organoid COSM5361749 c.1833T>G p.I611M Substitution - Missense 12:96951453-96951453 + ESCC_144 COSM5644532 c.285A>T p.T95T Substitution - coding silent 12:96917653-96917653 + TCGA-D9-A6EA-06 COSM4397825 c.1697C>T p.S566L Substitution - Missense 12:96945735-96945735 + SC_9030 COSM5548137 c.231+9delT p.? Unknown 12:96912826-96912826 + T3080 COSM4212318 c.1385C>T p.S462L Substitution - Missense 12:96943629-96943629 + TCGA-D9-A6EA-06 COSM4398348 c.1757C>T p.S586F Substitution - Missense 12:96945795-96945795 + ESCC_BICR_028T COSM5431673 c.137C>G p.S46* Substitution - Nonsense 12:96909875-96909875 + SMYM-PRGP COSM2046888 c.1560C>A p.N520K Substitution - Missense 12:96944701-96944701 + ESCC_BICR_028T COSM5431672 c.15C>G p.L5L Substitution - coding silent 12:96909774-96909774 + I2L-P25-Tumor-Organoid COSM5361748 c.1854T>G p.I618M Substitution - Missense 12:96951453-96951453 + TCGA-D1-A167-01 COSM944795 c.806G>A p.R269Q Substitution - Missense 12:96936697-96936697 + SA214 COSM212216 c.169G>A p.D57N Substitution - Missense 12:96912755-96912755 + CSCC-58-T COSM4572768 c.859T>C p.L287L Substitution - coding silent 12:96936729-96936729 + TCGA-AA-A010-01 COSM299366 c.1856T>G p.I619S Substitution - Missense 12:96951476-96951476 + RK102_C01 COSM3700372 c.1465G>A p.G489R Substitution - Missense 12:96943730-96943730 + T3535 COSM4706318 c.1348T>C p.F450L Substitution - Missense 12:96943592-96943592 + Gp5D COSM4212323 c.1927T>C p.Y643H Substitution - Missense 12:96951976-96951976 + TCGA-AZ-4315-01 COSM1365016 c.1139C>G p.T380R Substitution - Missense 12:96940430-96940430 + TCGA-BR-4279-01 COSM4045573 c.1859A>T p.N620I Substitution - Missense 12:96951458-96951458 + TCGA-G2-A3VY-01 COSM3793058 c.1078C>G p.L360V Substitution - Missense 12:96937333-96937333 + TCGA-AA-3492-01 COSM1365014 c.31G>A p.G11R Substitution - Missense 12:96909790-96909790 + TCGA-CM-4746-01 COSM5156756 c.780G>A p.A260A Substitution - coding silent 12:96936650-96936650 + TCGA-EE-A2MF-06 COSM4892651 c.1249T>C p.F417L Substitution - Missense 12:96940519-96940519 + PT48 COSM5933095 c.1892C>T p.S631F Substitution - Missense 12:96951962-96951962 + Gp5D COSM4212315 c.1004T>A p.V335E Substitution - Missense 12:96937259-96937259 + AD45 COSM5966540 c.907T>A p.C303S Substitution - Missense 12:96936777-96936777 + CSCC-58-T COSM4572769 c.838T>C p.L280L Substitution - coding silent 12:96936729-96936729 + 587376 COSM1217006 c.1458A>G p.I486M Substitution - Missense 12:96943723-96943723 + TCGA-RP-A695-06 COSM4896528 c.1968A>T p.L656L Substitution - coding silent 12:96952017-96952017 + TCGA-AO-A128-01 COSM3813262 c.632T>C p.V211A Substitution - Missense 12:96935097-96935097 + TCGA-AC-A3OD-01 COSM3813261 c.208C>A p.P70T Substitution - Missense 12:96912794-96912794 + J30_T COSM3955331 c.1547A>C p.E516A Substitution - Missense 12:96944667-96944667 + TCGA-DA-A1IC-06 COSM3466745 c.323C>T p.S108L Substitution - Missense 12:96917712-96917712 + TCGA-CM-4746-01 COSM1365015 c.759G>A p.A253A Substitution - coding silent 12:96936650-96936650 + ESCC_BICR_028T COSM5431674 c.116C>G p.S39* Substitution - Nonsense 12:96909875-96909875 + PCSI_0280_Pa_P_526 COSM4807638 c.1254A>T p.V418V Substitution - coding silent 12:96942584-96942584 + Gp2D COSM4212315 c.1004T>A p.V335E Substitution - Missense 12:96937259-96937259 + HCC4006ER COSM1685230 c.939C>G p.G313G Substitution - coding silent 12:96937215-96937215 + 4537_T COSM3955334 c.1633A>G p.I545V Substitution - Missense 12:96944774-96944774 + pfg181T COSM4759118 c.28G>A p.E10K Substitution - Missense 12:96909766-96909766 + SMYM-PRGP COSM3727645 c.1581C>A p.N527K Substitution - Missense 12:96944701-96944701 + BCM501T COSM4951945 c.1062G>A p.T354T Substitution - coding silent 12:96937317-96937317 + SNU-C2B COSM4334563 c.827delG p.I279fs*6 Deletion - Frameshift 12:96936697-96936697 + PT48 COSM5933094 c.1913C>T p.S638F Substitution - Missense 12:96951962-96951962 + HX11T COSM1606785 c.1585G>T p.E529* Substitution - Nonsense 12:96944726-96944726 + 0078_CRUK_PC_0078_T1_DNA COSM4420821 c.215A>T p.K72I Substitution - Missense 12:96912780-96912780 + TCGA-AA-3492-01 COSM5097098 c.52G>A p.G18R Substitution - Missense 12:96909790-96909790 + TCGA-CC-A7IK-01 COSM4924634 c.1424C>A p.S475Y Substitution - Missense 12:96943668-96943668 + CSCC-38-T COSM4529551 c.1621G>A p.E541K Substitution - Missense 12:96944741-96944741 + I2L-P7-Tumor-Organoid COSM5361341 c.231+8_231+10delATT p.? Unknown 12:96912825-96912827 + NPC14F COSM4995189 c.1703C>T p.S568L Substitution - Missense 12:96945741-96945741 + TCGA-B0-4828-01 COSM3359986 c.8A>T p.E3V Substitution - Missense 12:96909767-96909767 + BD14T COSM5517183 c.1061C>T p.T354M Substitution - Missense 12:96937316-96937316 + Pat_59_B COSM5842078 c.1256C>T p.P419L Substitution - Missense 12:96940526-96940526 + TCGA-19-2624-01 COSM2156230 c.1899G>A p.L633L Substitution - coding silent 12:96951969-96951969 + S00936 COSM313178 c.1170delA p.N392fs*15 Deletion - Frameshift 12:96940461-96940461 + RK102_C01 COSM3700371 c.1486G>A p.G496R Substitution - Missense 12:96943730-96943730 + 0078_CRUK_PC_0078_T1_DNA COSM4420822 c.194A>T p.K65I Substitution - Missense 12:96912780-96912780 + C0070T COSM4152685 c.943-10T>A p.? Unknown 12:96937188-96937188 + OSCC-GB_00980111 COSM4882122 c.1672C>G p.P558A Substitution - Missense 12:96944792-96944792 + TCGA-AP-A051-01 COSM944794 c.619G>T p.A207S Substitution - Missense 12:96935105-96935105 + TCGA-DA-A1IC-06 COSM3466744 c.344C>T p.S115L Substitution - Missense 12:96917712-96917712 + TCGA-DK-A3IU-01 COSM3793060 c.1931C>G p.S644* Substitution - Nonsense 12:96951980-96951980 + J30_T COSM3955332 c.1526A>C p.E509A Substitution - Missense 12:96944667-96944667 + I2L-P19Tb-Tumor-Biopsy COSM5361612 c.1757G>A p.R586Q Substitution - Missense 12:96945774-96945774 + T3080 COSM2046886 c.1364C>T p.S455L Substitution - Missense 12:96943629-96943629 + CSCC-44-T COSM4473991 c.1888C>T p.H630Y Substitution - Missense 12:96951487-96951487 + C10 COSM4616461 c.134G>T p.S45I Substitution - Missense 12:96909872-96909872 + ESCC_144 COSM5644533 c.264A>T p.T88T Substitution - coding silent 12:96917653-96917653 + ESCC_BICR_028T COSM5431671 c.36C>G p.L12L Substitution - coding silent 12:96909774-96909774 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.270083;Hs.270084 12q23.1 600372

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - Frameshift p.N399Ifs*15 c.1196delA 12 97334239 SCLC A G Synonymous p.A59A c.177A>G 12 97306520 CM AG TT Missense p.A367S c.1098_1099delinsTT 12 97331131 CM A T Missense p.E10V c.29A>T 12 97303545 RCCC A T Missense p.E635D c.1905A>T 12 97345732 HNSC A T Missense p.N620I c.1859A>T 12 97345236 STAD C A Missense p.N169K c.507C>A 12 97313900 LUAD C A Missense p.P419T c.1255C>A 12 97334303 LUAD C A Synonymous p.R120R c.358C>A 12 97311504 CM C G Missense p.S28C c.83C>G 12 97303599 HNSC C G Nonsense p.S644* c.1931C>G 12 97345758 BLCA C G Synonymous p.T231T c.693C>G 12 97328936 NB C T 3-UTRSNV . c.2001+18C>T 12 97345846 CM C T Missense p.A353V c.1058C>T 12 97331091 HNSC C T Missense p.H630Y c.1888C>T 12 97345265 HNSC C T Missense p.S115L c.344C>T 12 97311490 CM C T Missense p.S355F c.1064C>T 12 97331097 LGG C T Missense p.S532F c.1595C>T 12 97338493 CM C T Synonymous p.G186G c.558C>T 12 97328801 UCEC G A Missense p.D64N c.190G>A 12 97306533 BRCA G A Missense p.G346R c.1036G>A 12 97331069 HNSC G A Missense p.R173Q c.518G>A 12 97328761 COREAD G A Synonymous p.L640L c.1920G>A 12 97345747 GBM G A Synonymous p.Q87Q c.261G>A 12 97311407 BRCA G C Missense p.D235H c.703G>C 12 97328946 LUAD G C Missense p.D33H c.97G>C 12 97303613 RCCC G C Missense p.S517T c.1550G>C 12 97338448 COREAD G T Missense p.L99F c.297G>T 12 97311443 LUSC G T Missense p.Q400H c.1200G>T 12 97334248 LUAD G T Nonsense p.E499* c.1495G>T 12 97337517 HNSC G T Nonsense p.G102* c.304G>T 12 97311450 LUAD G T Synonymous p.S189S c.567G>T 12 97328810 LUSC T C Missense p.F417L c.1249T>C 12 97334297 CM T C Missense p.V194A c.581T>C 12 97328824 LUAD T C Missense p.V90A c.269T>C 12 97311415 NB T C Missense p.Y177H c.529T>C 12 97328772 HNSC T C Synonymous p.H125H c.375T>C 12 97313768 COREAD T G 3-UTRSNV . c.2001+29T>G 12 97345857 CM