Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 14 69521082 69521082 + Missense_Mutation SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chr14:69521082G>T c.2321C>A c.(2320-2322)cCt>cAt p.P774H BLCA 14 69522027 69522029 + In_Frame_Del DEL GAG GAG - TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 g.chr14:69522027_69522029delGAG c.1374_1376delCTC c.(1372-1377)gactca>gaa p.458_459DS>E BLCA 14 69583208 69583208 + Silent SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 g.chr14:69583208G>A c.540C>T c.(538-540)ccC>ccT p.P180P BRCA 14 69520662 69520662 + Missense_Mutation SNP T T A TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 g.chr14:69520662T>A c.2741A>T c.(2740-2742)cAt>cTt p.H914L BRCA 14 69520743 69520743 + Missense_Mutation SNP T T C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 g.chr14:69520743T>C c.2660A>G c.(2659-2661)gAa>gGa p.E887G BRCA 14 69520915 69520915 + Missense_Mutation SNP C C T TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chr14:69520915C>T c.2488G>A c.(2488-2490)Gcc>Acc p.A830T BRCA 14 69521489 69521489 + Silent SNP G G A TCGA-B6-A401-01A-11D-A23C-09 TCGA-B6-A401-10A-01D-A23C-09 g.chr14:69521489G>A c.1914C>T c.(1912-1914)tcC>tcT p.S638S BRCA 14 69529213 69529213 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr14:69529213A>C c.962T>G c.(961-963)gTg>gGg p.V321G CESC 14 69521200 69521200 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr14:69521200C>G c.2203G>C c.(2203-2205)Gaa>Caa p.E735Q CESC 14 69522025 69522025 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 g.chr14:69522025C>G c.1378G>C c.(1378-1380)Gag>Cag p.E460Q COAD 14 69520613 69520613 + Silent SNP A A G TCGA-AA-3514-01A-02W-0831-10 TCGA-AA-3514-10A-01W-0831-10 g.chr14:69520613A>G c.2790T>C c.(2788-2790)gaT>gaC p.D930D COAD 14 69520635 69520635 + Missense_Mutation SNP C C T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr14:69520635C>T c.2768G>A c.(2767-2769)cGa>cAa p.R923Q COAD 14 69520792 69520792 + Missense_Mutation SNP T T C TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr14:69520792T>C c.2611A>G c.(2611-2613)Aac>Gac p.N871D COAD 14 69520935 69520935 + Missense_Mutation SNP C C A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr14:69520935C>A c.2468G>T c.(2467-2469)aGg>aTg p.R823M COAD 14 69521030 69521030 + Silent SNP C C T TCGA-AA-3955-01A-02W-0995-10 TCGA-AA-3955-10A-01W-0995-10 g.chr14:69521030C>T c.2373G>A c.(2371-2373)gaG>gaA p.E791E COAD 14 69521041 69521041 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr14:69521041G>A c.2362C>T c.(2362-2364)Cgg>Tgg p.R788W COAD 14 69521254 69521254 + Missense_Mutation SNP C C T TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr14:69521254C>T c.2149G>A c.(2149-2151)Gcc>Acc p.A717T COAD 14 69521373 69521373 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr14:69521373T>C c.2030A>G c.(2029-2031)aAc>aGc p.N677S COAD 14 69521705 69521705 + Missense_Mutation SNP G G T TCGA-CM-6675-01A-11D-1835-10 TCGA-CM-6675-10A-01D-1835-10 g.chr14:69521705G>T c.1698C>A c.(1696-1698)agC>agA p.S566R COAD 14 69522263 69522263 + Silent SNP G G A TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr14:69522263G>A c.1140C>T c.(1138-1140)tcC>tcT p.S380S COAD 14 69584894 69584894 + Missense_Mutation SNP C C T TCGA-DM-A28G-01A-11D-A16V-10 TCGA-DM-A28G-10A-01D-A16V-10 g.chr14:69584894C>T c.497G>A c.(496-498)cGg>cAg p.R166Q COADREAD 14 69520613 69520613 + Silent SNP A A G TCGA-AA-3514-01A-02W-0831-10 TCGA-AA-3514-10A-01W-0831-10 g.chr14:69520613A>G c.2790T>C c.(2788-2790)gaT>gaC p.D930D COADREAD 14 69520635 69520635 + Missense_Mutation SNP C C T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr14:69520635C>T c.2768G>A c.(2767-2769)cGa>cAa p.R923Q COADREAD 14 69520792 69520792 + Missense_Mutation SNP T T C TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr14:69520792T>C c.2611A>G c.(2611-2613)Aac>Gac p.N871D COADREAD 14 69520935 69520935 + Missense_Mutation SNP C C A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr14:69520935C>A c.2468G>T c.(2467-2469)aGg>aTg p.R823M COADREAD 14 69521030 69521030 + Silent SNP C C T TCGA-AA-3955-01A-02W-0995-10 TCGA-AA-3955-10A-01W-0995-10 g.chr14:69521030C>T c.2373G>A c.(2371-2373)gaG>gaA p.E791E COADREAD 14 69521041 69521041 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr14:69521041G>A c.2362C>T c.(2362-2364)Cgg>Tgg p.R788W COADREAD 14 69521254 69521254 + Missense_Mutation SNP C C T TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr14:69521254C>T c.2149G>A c.(2149-2151)Gcc>Acc p.A717T COADREAD 14 69521373 69521373 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr14:69521373T>C c.2030A>G c.(2029-2031)aAc>aGc p.N677S COADREAD 14 69521705 69521705 + Missense_Mutation SNP G G T TCGA-CM-6675-01A-11D-1835-10 TCGA-CM-6675-10A-01D-1835-10 g.chr14:69521705G>T c.1698C>A c.(1696-1698)agC>agA p.S566R COADREAD 14 69522263 69522263 + Silent SNP G G A TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr14:69522263G>A c.1140C>T c.(1138-1140)tcC>tcT p.S380S COADREAD 14 69584894 69584894 + Missense_Mutation SNP C C T TCGA-DM-A28G-01A-11D-A16V-10 TCGA-DM-A28G-10A-01D-A16V-10 g.chr14:69584894C>T c.497G>A c.(496-498)cGg>cAg p.R166Q ESCA 14 69520682 69520682 + Silent SNP T T C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 g.chr14:69520682T>C c.2721A>G c.(2719-2721)acA>acG p.T907T ESCA 14 69522074 69522074 + Silent SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 g.chr14:69522074G>A c.1329C>T c.(1327-1329)atC>atT p.I443I ESCA 14 69522207 69522207 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 g.chr14:69522207C>T c.1196G>A c.(1195-1197)gGc>gAc p.G399D GBM 14 69520671 69520671 + Missense_Mutation SNP C C T TCGA-76-6280-01A-21D-1845-08 TCGA-76-6280-10A-01D-1845-08 g.chr14:69520671C>T c.2732G>A c.(2731-2733)aGg>aAg p.R911K GBMLGG 14 69520671 69520671 + Missense_Mutation SNP C C T TCGA-76-6280-01A-21D-1845-08 TCGA-76-6280-10A-01D-1845-08 g.chr14:69520671C>T c.2732G>A c.(2731-2733)aGg>aAg p.R911K HNSC 14 69520744 69520744 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 g.chr14:69520744C>T c.2659G>A c.(2659-2661)Gaa>Aaa p.E887K HNSC 14 69520911 69520911 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr14:69520911T>C c.2492A>G c.(2491-2493)aAc>aGc p.N831S HNSC 14 69521673 69521673 + Missense_Mutation SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 g.chr14:69521673C>T c.1730G>A c.(1729-1731)cGc>cAc p.R577H HNSC 14 69522198 69522198 + Missense_Mutation SNP T T A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 g.chr14:69522198T>A c.1205A>T c.(1204-1206)cAt>cTt p.H402L HNSC 14 69529205 69529205 + Missense_Mutation SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 g.chr14:69529205C>G c.970G>C c.(970-972)Gga>Cga p.G324R HNSC 14 69542127 69542127 + Splice_Site SNP T T C TCGA-CV-5432-01A-02D-1683-08 TCGA-CV-5432-10A-01D-1870-08 g.chr14:69542127T>C c.881A>G c.(880-882)tAt>tGt p.Y294C HNSC 14 69558501 69558501 + Missense_Mutation SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr14:69558501G>A c.769C>T c.(769-771)Cct>Tct p.P257S KIPAN 14 69520975 69520975 + Missense_Mutation SNP C C T TCGA-CJ-4634-01A-02D-1386-10 TCGA-CJ-4634-11A-01D-1251-10 g.chr14:69520975C>T c.2428G>A c.(2428-2430)Ggc>Agc p.G810S KIPAN 14 69521317 69521317 + Missense_Mutation SNP T T C TCGA-MH-A562-01A-11D-A26P-10 TCGA-MH-A562-10A-01D-A26P-10 g.chr14:69521317T>C c.2086A>G c.(2086-2088)Acc>Gcc p.T696A KIPAN 14 69589045 69589045 + Missense_Mutation SNP T T C TCGA-B0-5116-01A-02D-1421-08 TCGA-B0-5116-11A-01D-1421-08 g.chr14:69589045T>C c.247A>G c.(247-249)Atg>Gtg p.M83V KIRC 14 69520975 69520975 + Missense_Mutation SNP C C T TCGA-CJ-4634-01A-02D-1386-10 TCGA-CJ-4634-11A-01D-1251-10 g.chr14:69520975C>T c.2428G>A c.(2428-2430)Ggc>Agc p.G810S KIRC 14 69589045 69589045 + Missense_Mutation SNP T T C TCGA-B0-5116-01A-02D-1421-08 TCGA-B0-5116-11A-01D-1421-08 g.chr14:69589045T>C c.247A>G c.(247-249)Atg>Gtg p.M83V KIRP 14 69521317 69521317 + Missense_Mutation SNP T T C TCGA-MH-A562-01A-11D-A26P-10 TCGA-MH-A562-10A-01D-A26P-10 g.chr14:69521317T>C c.2086A>G c.(2086-2088)Acc>Gcc p.T696A LIHC 14 69520835 69520835 + Silent SNP C C T TCGA-QA-A7B7-01A-11D-A32G-10 TCGA-QA-A7B7-10A-01D-A32G-10 g.chr14:69520835C>T c.2568G>A c.(2566-2568)gtG>gtA p.V856V LIHC 14 69520912 69520912 + Missense_Mutation SNP T T G TCGA-DD-AAD1-01A-11D-A40R-10 TCGA-DD-AAD1-10A-01D-A40U-10 g.chr14:69520912T>G c.2491A>C c.(2491-2493)Aac>Cac p.N831H LIHC 14 69522154 69522154 + Missense_Mutation SNP C C A TCGA-DD-A4NF-01A-11D-A27I-10 TCGA-DD-A4NF-10A-01D-A27I-10 g.chr14:69522154C>A c.1249G>T c.(1249-1251)Gcc>Tcc p.A417S LIHC 14 69584924 69584924 + Missense_Mutation SNP T T C TCGA-BC-A112-01A-11D-A12Z-10 TCGA-BC-A112-11A-11D-A12Z-10 g.chr14:69584924T>C c.467A>G c.(466-468)aAc>aGc p.N156S LUAD 14 69520616 69520616 + Silent SNP T T A TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr14:69520616T>A c.2787A>T c.(2785-2787)acA>acT p.T929T LUAD 14 69520831 69520831 + Missense_Mutation SNP C C G TCGA-97-7937-01A-11D-2167-08 TCGA-97-7937-10A-01D-2167-08 g.chr14:69520831C>G c.2572G>C c.(2572-2574)Gcc>Ccc p.A858P LUAD 14 69520961 69520961 + Silent SNP C C T TCGA-50-5044-01A-21D-1855-08 TCGA-50-5044-10A-01D-1855-08 g.chr14:69520961C>T c.2442G>A c.(2440-2442)agG>agA p.R814R LUAD 14 69521069 69521069 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 g.chr14:69521069C>G c.2334G>C c.(2332-2334)aaG>aaC p.K778N LUAD 14 69521853 69521853 + Missense_Mutation SNP C C A TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chr14:69521853C>A c.1550G>T c.(1549-1551)cGg>cTg p.R517L LUAD 14 69522223 69522223 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr14:69522223G>A c.1180C>T c.(1180-1182)Ctg>Ttg p.L394L LUAD 14 69529104 69529104 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr14:69529104G>A c.1071C>T c.(1069-1071)atC>atT p.I357I LUSC 14 69521476 69521476 + Nonsense_Mutation SNP G G A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 g.chr14:69521476G>A c.1927C>T c.(1927-1929)Caa>Taa p.Q643* LUSC 14 69521877 69521877 + Missense_Mutation SNP C C A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 g.chr14:69521877C>A c.1526G>T c.(1525-1527)cGc>cTc p.R509L LUSC 14 69522303 69522303 + Missense_Mutation SNP C C A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 g.chr14:69522303C>A c.1100G>T c.(1099-1101)gGa>gTa p.G367V LUSC 14 69529207 69529207 + Missense_Mutation SNP T T C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 g.chr14:69529207T>C c.968A>G c.(967-969)aAc>aGc p.N323S LUSC 14 69558590 69558590 + Missense_Mutation SNP T T C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 g.chr14:69558590T>C c.680A>G c.(679-681)tAt>tGt p.Y227C LUSC 14 69584943 69584943 + Missense_Mutation SNP C C A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 g.chr14:69584943C>A c.448G>T c.(448-450)Gtg>Ttg p.V150L LUSC 14 69585939 69585939 + Nonsense_Mutation SNP C C A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr14:69585939C>A c.367G>T c.(367-369)Gag>Tag p.E123* OV 14 69521948 69521948 + Silent SNP G G T TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 g.chr14:69521948G>T c.1455C>A c.(1453-1455)ccC>ccA p.P485P PAAD 14 69521423 69521423 + Missense_Mutation SNP A A C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr14:69521423A>C c.1980T>G c.(1978-1980)atT>atG p.I660M PAAD 14 69522129 69522129 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 g.chr14:69522129C>T c.1274G>A c.(1273-1275)cGa>cAa p.R425Q PAAD 14 69522283 69522283 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr14:69522283C>A c.1120G>T c.(1120-1122)Ggt>Tgt p.G374C PRAD 14 69521532 69521532 + Missense_Mutation SNP T T C TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 g.chr14:69521532T>C c.1871A>G c.(1870-1872)gAc>gGc p.D624G PRAD 14 69558433 69558433 + Silent SNP T T C TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr14:69558433T>C c.837A>G c.(835-837)tcA>tcG p.S279S SARC 14 69521402 69521402 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 g.chr14:69521402G>A c.2001C>T c.(1999-2001)ctC>ctT p.L667L SARC 14 69521851 69521851 + Missense_Mutation SNP G G C TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 g.chr14:69521851G>C c.1552C>G c.(1552-1554)Cgc>Ggc p.R518G SKCM 14 69520769 69520769 + Silent SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr14:69520769G>A c.2634C>T c.(2632-2634)ctC>ctT p.L878L SKCM 14 69520803 69520803 + Missense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr14:69520803G>A c.2600C>T c.(2599-2601)aCt>aTt p.T867I SKCM 14 69520804 69520804 + Missense_Mutation SNP T T C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr14:69520804T>C c.2599A>G c.(2599-2601)Act>Gct p.T867A SKCM 14 69521190 69521190 + Missense_Mutation SNP G G A TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chr14:69521190G>A c.2213C>T c.(2212-2214)cCt>cTt p.P738L SKCM 14 69521269 69521269 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 g.chr14:69521269G>A c.2134C>T c.(2134-2136)Cta>Tta p.L712L SKCM 14 69521377 69521377 + Missense_Mutation SNP T T C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr14:69521377T>C c.2026A>G c.(2026-2028)Aat>Gat p.N676D SKCM 14 69521511 69521511 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr14:69521511G>A c.1892C>T c.(1891-1893)tCg>tTg p.S631L SKCM 14 69521726 69521726 + Silent SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr14:69521726G>A c.1677C>T c.(1675-1677)tcC>tcT p.S559S SKCM 14 69522018 69522018 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr14:69522018G>A c.1385C>T c.(1384-1386)tCg>tTg p.S462L SKCM 14 69522035 69522035 + Silent SNP G G A TCGA-EE-A2GM-06B-11D-A196-08 TCGA-EE-A2GM-10A-01D-A198-08 g.chr14:69522035G>A c.1368C>T c.(1366-1368)taC>taT p.Y456Y SKCM 14 69522036 69522036 + Missense_Mutation SNP T T A TCGA-EE-A2GM-06B-11D-A196-08 TCGA-EE-A2GM-10A-01D-A198-08 g.chr14:69522036T>A c.1367A>T c.(1366-1368)tAc>tTc p.Y456F SKCM 14 69529122 69529122 + Silent SNP A A G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr14:69529122A>G c.1053T>C c.(1051-1053)tcT>tcC p.S351S SKCM 14 69558597 69558597 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr14:69558597G>A c.673C>T c.(673-675)Ctg>Ttg p.L225L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 14 69521082 69521082 single base substitution G T downstream_gene_variant BLCA-US 14 69521082 69521082 single base substitution G T missense_variant P692H 2075C>A BLCA-US 14 69521082 69521082 single base substitution G T missense_variant P773H 2318C>A BLCA-US 14 69521082 69521082 single base substitution G T missense_variant P774H 2321C>A BRCA-EU 14 69513428 69513428 single base substitution C A downstream_gene_variant BRCA-EU 14 69513477 69513478 deletion of <=200bp TT - downstream_gene_variant BRCA-EU 14 69515544 69515544 single base substitution C G downstream_gene_variant BRCA-EU 14 69515792 69515792 single base substitution C G downstream_gene_variant BRCA-EU 14 69518073 69518073 single base substitution C T 3_prime_UTR_variant BRCA-EU 14 69518073 69518073 single base substitution C T downstream_gene_variant BRCA-EU 14 69519519 69519519 single base substitution C G 3_prime_UTR_variant BRCA-EU 14 69519519 69519519 single base substitution C G downstream_gene_variant BRCA-EU 14 69520281 69520281 single base substitution A G 3_prime_UTR_variant BRCA-EU 14 69520281 69520281 single base substitution A G downstream_gene_variant BRCA-EU 14 69520884 69520884 single base substitution C G downstream_gene_variant BRCA-EU 14 69520884 69520884 single base substitution C G missense_variant R758P 2273G>C BRCA-EU 14 69520884 69520884 single base substitution C G missense_variant R839P 2516G>C BRCA-EU 14 69520884 69520884 single base substitution C G missense_variant R840P 2519G>C BRCA-EU 14 69522016 69522016 single base substitution C T exon_variant BRCA-EU 14 69522016 69522016 single base substitution C T missense_variant A381T 1141G>A BRCA-EU 14 69522016 69522016 single base substitution C T missense_variant A462T 1384G>A BRCA-EU 14 69522016 69522016 single base substitution C T missense_variant A463T 1387G>A BRCA-EU 14 69524248 69524248 single base substitution C A downstream_gene_variant BRCA-EU 14 69524248 69524248 single base substitution C A intron_variant BRCA-EU 14 69527005 69527005 single base substitution G A downstream_gene_variant BRCA-EU 14 69527005 69527005 single base substitution G A intron_variant BRCA-EU 14 69533767 69533767 single base substitution C G intron_variant BRCA-EU 14 69540373 69540373 deletion of <=200bp A - intron_variant BRCA-EU 14 69540841 69540841 single base substitution G C intron_variant BRCA-EU 14 69542201 69542201 single base substitution C T intron_variant BRCA-EU 14 69542420 69542420 single base substitution C G intron_variant BRCA-EU 14 69544937 69544937 single base substitution G T intron_variant BRCA-EU 14 69546216 69546216 single base substitution T C intron_variant BRCA-EU 14 69546760 69546760 single base substitution G A intron_variant BRCA-EU 14 69546835 69546835 deletion of <=200bp T - intron_variant BRCA-EU 14 69547031 69547031 single base substitution G C intron_variant BRCA-EU 14 69547627 69547627 single base substitution G C intron_variant BRCA-EU 14 69550693 69550693 single base substitution A C intron_variant BRCA-EU 14 69551342 69551342 single base substitution C G downstream_gene_variant BRCA-EU 14 69551342 69551342 single base substitution C G intron_variant BRCA-EU 14 69552432 69552432 deletion of <=200bp A - downstream_gene_variant BRCA-EU 14 69552432 69552432 deletion of <=200bp A - intron_variant BRCA-EU 14 69553567 69553567 single base substitution C A downstream_gene_variant BRCA-EU 14 69553567 69553567 single base substitution C A intron_variant BRCA-EU 14 69554856 69554856 single base substitution C G downstream_gene_variant BRCA-EU 14 69554856 69554856 single base substitution C G intron_variant BRCA-EU 14 69555212 69555212 single base substitution T G downstream_gene_variant BRCA-EU 14 69555212 69555212 single base substitution T G intron_variant BRCA-EU 14 69556111 69556111 single base substitution G A 3_prime_UTR_variant BRCA-EU 14 69556111 69556111 single base substitution G A downstream_gene_variant BRCA-EU 14 69556111 69556111 single base substitution G A intron_variant BRCA-EU 14 69557664 69557664 deletion of <=200bp C - 3_prime_UTR_variant BRCA-EU 14 69557664 69557664 deletion of <=200bp C - downstream_gene_variant BRCA-EU 14 69557664 69557664 deletion of <=200bp C - intron_variant BRCA-EU 14 69560519 69560519 single base substitution G C intron_variant BRCA-EU 14 69561758 69561758 single base substitution T A intron_variant BRCA-EU 14 69564754 69564754 single base substitution T A intron_variant BRCA-EU 14 69565080 69565080 single base substitution C T intron_variant BRCA-EU 14 69565559 69565559 single base substitution G A intron_variant BRCA-EU 14 69565796 69565796 single base substitution A C intron_variant BRCA-EU 14 69568765 69568765 single base substitution C T intron_variant BRCA-EU 14 69569520 69569520 single base substitution T A intron_variant BRCA-EU 14 69570410 69570410 single base substitution G A intron_variant BRCA-EU 14 69571888 69571888 deletion of <=200bp A - intron_variant BRCA-EU 14 69571888 69571888 insertion of <=200bp - A intron_variant BRCA-EU 14 69572213 69572213 single base substitution C T intron_variant BRCA-EU 14 69573159 69573159 single base substitution C G intron_variant BRCA-EU 14 69573986 69573986 single base substitution G A intron_variant BRCA-EU 14 69574386 69574386 single base substitution T C intron_variant BRCA-EU 14 69574785 69574785 single base substitution T C intron_variant BRCA-EU 14 69576724 69576724 single base substitution C A intron_variant BRCA-EU 14 69578292 69578292 single base substitution C T intron_variant BRCA-EU 14 69579764 69579764 single base substitution C A intron_variant BRCA-EU 14 69579916 69579916 single base substitution G A intron_variant BRCA-EU 14 69580664 69580664 single base substitution C T intron_variant BRCA-EU 14 69584255 69584255 single base substitution T A downstream_gene_variant BRCA-EU 14 69584255 69584255 single base substitution T A intron_variant BRCA-EU 14 69586586 69586587 deletion of <=200bp TA - intron_variant BRCA-EU 14 69586586 69586587 deletion of <=200bp TA - upstream_gene_variant BRCA-EU 14 69586979 69586980 deletion of <=200bp AT - intron_variant BRCA-EU 14 69586979 69586980 deletion of <=200bp AT - upstream_gene_variant BRCA-EU 14 69590736 69590736 single base substitution C A intron_variant BRCA-EU 14 69590863 69590863 single base substitution C A intron_variant BRCA-EU 14 69591761 69591761 single base substitution T C intron_variant BRCA-EU 14 69593180 69593180 single base substitution C T intron_variant BRCA-EU 14 69593499 69593499 single base substitution C T intron_variant BRCA-EU 14 69594042 69594042 single base substitution T C intron_variant BRCA-EU 14 69596960 69596960 single base substitution A C intron_variant BRCA-EU 14 69597157 69597157 single base substitution A T intron_variant BRCA-EU 14 69599475 69599475 single base substitution T C intron_variant BRCA-EU 14 69599903 69599903 single base substitution C T intron_variant BRCA-EU 14 69603253 69603253 deletion of <=200bp T - intron_variant BRCA-EU 14 69607082 69607082 single base substitution G A intron_variant BRCA-EU 14 69607356 69607356 insertion of <=200bp - A intron_variant BRCA-EU 14 69609322 69609323 deletion of <=200bp TG - intron_variant BRCA-EU 14 69612302 69612302 single base substitution G C intron_variant BRCA-EU 14 69612767 69612767 single base substitution A G intron_variant BRCA-EU 14 69614673 69614673 single base substitution C T intron_variant BRCA-EU 14 69614674 69614674 single base substitution T G intron_variant BRCA-EU 14 69615356 69615356 single base substitution G A intron_variant BRCA-EU 14 69617306 69617306 deletion of <=200bp T - intron_variant BRCA-EU 14 69617845 69617845 single base substitution C T intron_variant BRCA-EU 14 69620276 69620276 deletion of <=200bp G - upstream_gene_variant BRCA-EU 14 69621077 69621077 single base substitution G A upstream_gene_variant BRCA-EU 14 69621119 69621119 single base substitution T A upstream_gene_variant BRCA-EU 14 69622931 69622931 single base substitution C T upstream_gene_variant BRCA-EU 14 69624737 69624737 single base substitution G A upstream_gene_variant BRCA-FR 14 69544844 69544844 single base substitution G A intron_variant BRCA-FR 14 69547627 69547627 single base substitution G C intron_variant BRCA-FR 14 69556111 69556111 single base substitution G A 3_prime_UTR_variant BRCA-FR 14 69556111 69556111 single base substitution G A downstream_gene_variant BRCA-FR 14 69556111 69556111 single base substitution G A intron_variant BRCA-FR 14 69565559 69565559 single base substitution G A intron_variant BRCA-FR 14 69578292 69578292 single base substitution C T intron_variant BRCA-FR 14 69580981 69580981 single base substitution A C downstream_gene_variant BRCA-FR 14 69580981 69580981 single base substitution A C intron_variant BRCA-FR 14 69597391 69597391 single base substitution T C intron_variant BRCA-FR 14 69607082 69607082 single base substitution G A intron_variant BRCA-FR 14 69615356 69615356 single base substitution G A intron_variant BRCA-FR 14 69617845 69617845 single base substitution C T intron_variant BRCA-UK 14 69524248 69524248 single base substitution C A downstream_gene_variant BRCA-UK 14 69524248 69524248 single base substitution C A intron_variant BRCA-UK 14 69564754 69564754 single base substitution T A intron_variant BRCA-UK 14 69597157 69597157 single base substitution A T intron_variant BRCA-UK 14 69599903 69599903 single base substitution C T intron_variant BRCA-US 14 69520662 69520662 single base substitution T A downstream_gene_variant BRCA-US 14 69520662 69520662 single base substitution T A missense_variant H832L 2495A>T BRCA-US 14 69520662 69520662 single base substitution T A missense_variant H913L 2738A>T BRCA-US 14 69520662 69520662 single base substitution T A missense_variant H914L 2741A>T BRCA-US 14 69520743 69520743 single base substitution T C downstream_gene_variant BRCA-US 14 69520743 69520743 single base substitution T C missense_variant E805G 2414A>G BRCA-US 14 69520743 69520743 single base substitution T C missense_variant E886G 2657A>G BRCA-US 14 69520743 69520743 single base substitution T C missense_variant E887G 2660A>G BRCA-US 14 69520915 69520915 single base substitution C T downstream_gene_variant BRCA-US 14 69520915 69520915 single base substitution C T missense_variant A748T 2242G>A BRCA-US 14 69520915 69520915 single base substitution C T missense_variant A829T 2485G>A BRCA-US 14 69520915 69520915 single base substitution C T missense_variant A830T 2488G>A BRCA-US 14 69521489 69521489 single base substitution G A downstream_gene_variant BRCA-US 14 69521489 69521489 single base substitution G A synonymous_variant S556S 1668C>T BRCA-US 14 69521489 69521489 single base substitution G A synonymous_variant S637S 1911C>T BRCA-US 14 69521489 69521489 single base substitution G A synonymous_variant S638S 1914C>T BRCA-US 14 69529213 69529213 single base substitution A C 3_prime_UTR_variant BRCA-US 14 69529213 69529213 single base substitution A C intron_variant BRCA-US 14 69529213 69529213 single base substitution A C missense_variant V239G 716T>G BRCA-US 14 69529213 69529213 single base substitution A C missense_variant V320G 959T>G BRCA-US 14 69529213 69529213 single base substitution A C missense_variant V321G 962T>G BTCA-JP 14 69557782 69557782 single base substitution A G downstream_gene_variant BTCA-JP 14 69557782 69557782 single base substitution A G intron_variant BTCA-JP 14 69557782 69557782 single base substitution A G missense_variant L324P 971T>C BTCA-JP 14 69589075 69589075 single base substitution C A intron_variant BTCA-JP 14 69589075 69589075 single base substitution C A splice_region_variant BTCA-JP 14 69589075 69589075 single base substitution C A stop_gained G73* 217G>T BTCA-JP 14 69589075 69589075 single base substitution C A upstream_gene_variant CESC-US 14 69521200 69521200 single base substitution C G downstream_gene_variant CESC-US 14 69521200 69521200 single base substitution C G missense_variant E653Q 1957G>C CESC-US 14 69521200 69521200 single base substitution C G missense_variant E734Q 2200G>C CESC-US 14 69521200 69521200 single base substitution C G missense_variant E735Q 2203G>C CESC-US 14 69522025 69522025 single base substitution C G exon_variant CESC-US 14 69522025 69522025 single base substitution C G missense_variant E378Q 1132G>C CESC-US 14 69522025 69522025 single base substitution C G missense_variant E459Q 1375G>C CESC-US 14 69522025 69522025 single base substitution C G missense_variant E460Q 1378G>C CLLE-ES 14 69513591 69513591 single base substitution C A downstream_gene_variant CLLE-ES 14 69530998 69530998 single base substitution T C intron_variant CLLE-ES 14 69533105 69533105 single base substitution G T intron_variant CLLE-ES 14 69556645 69556645 single base substitution A C 3_prime_UTR_variant CLLE-ES 14 69556645 69556645 single base substitution A C downstream_gene_variant CLLE-ES 14 69556645 69556645 single base substitution A C intron_variant CLLE-ES 14 69599886 69599886 single base substitution A T intron_variant CLLE-ES 14 69602853 69602853 single base substitution T A intron_variant COAD-US 14 69520635 69520635 single base substitution C T downstream_gene_variant COAD-US 14 69520635 69520635 single base substitution C T missense_variant R841Q 2522G>A COAD-US 14 69520635 69520635 single base substitution C T missense_variant R922Q 2765G>A COAD-US 14 69520635 69520635 single base substitution C T missense_variant R923Q 2768G>A COAD-US 14 69520935 69520935 single base substitution C A downstream_gene_variant COAD-US 14 69520935 69520935 single base substitution C A missense_variant R741M 2222G>T COAD-US 14 69520935 69520935 single base substitution C A missense_variant R822M 2465G>T COAD-US 14 69520935 69520935 single base substitution C A missense_variant R823M 2468G>T COAD-US 14 69521373 69521373 single base substitution T C downstream_gene_variant COAD-US 14 69521373 69521373 single base substitution T C missense_variant N595S 1784A>G COAD-US 14 69521373 69521373 single base substitution T C missense_variant N676S 2027A>G COAD-US 14 69521373 69521373 single base substitution T C missense_variant N677S 2030A>G COAD-US 14 69521705 69521705 single base substitution G T downstream_gene_variant COAD-US 14 69521705 69521705 single base substitution G T missense_variant S484R 1452C>A COAD-US 14 69521705 69521705 single base substitution G T missense_variant S565R 1695C>A COAD-US 14 69521705 69521705 single base substitution G T missense_variant S566R 1698C>A COAD-US 14 69522263 69522263 single base substitution G A exon_variant COAD-US 14 69522263 69522263 single base substitution G A synonymous_variant S298S 894C>T COAD-US 14 69522263 69522263 single base substitution G A synonymous_variant S379S 1137C>T COAD-US 14 69522263 69522263 single base substitution G A synonymous_variant S380S 1140C>T COAD-US 14 69529156 69529156 single base substitution C T 3_prime_UTR_variant COAD-US 14 69529156 69529156 single base substitution C T intron_variant COAD-US 14 69529156 69529156 single base substitution C T missense_variant R258Q 773G>A COAD-US 14 69529156 69529156 single base substitution C T missense_variant R339Q 1016G>A COAD-US 14 69529156 69529156 single base substitution C T missense_variant R340Q 1019G>A COAD-US 14 69558594 69558594 single base substitution G A exon_variant COAD-US 14 69558594 69558594 single base substitution G A missense_variant R143C 427C>T COAD-US 14 69558594 69558594 single base substitution G A missense_variant R144C 430C>T COAD-US 14 69558594 69558594 single base substitution G A missense_variant R225C 673C>T COAD-US 14 69558594 69558594 single base substitution G A missense_variant R226C 676C>T COAD-US 14 69584894 69584894 single base substitution C T downstream_gene_variant COAD-US 14 69584894 69584894 single base substitution C T exon_variant COAD-US 14 69584894 69584894 single base substitution C T missense_variant R165Q 494G>A COAD-US 14 69584894 69584894 single base substitution C T missense_variant R166Q 497G>A COAD-US 14 69584894 69584894 single base substitution C T missense_variant R83Q 248G>A COAD-US 14 69584894 69584894 single base substitution C T missense_variant R84Q 251G>A COCA-CN 14 69522179 69522179 single base substitution C G exon_variant COCA-CN 14 69522179 69522179 single base substitution C G synonymous_variant S326S 978G>C COCA-CN 14 69522179 69522179 single base substitution C G synonymous_variant S407S 1221G>C COCA-CN 14 69522179 69522179 single base substitution C G synonymous_variant S408S 1224G>C COCA-CN 14 69541916 69541916 single base substitution A T intron_variant COCA-CN 14 69542142 69542142 single base substitution A C intron_variant COCA-CN 14 69551695 69551695 single base substitution G T downstream_gene_variant COCA-CN 14 69551695 69551695 single base substitution G T intron_variant COCA-CN 14 69558299 69558299 single base substitution A G downstream_gene_variant COCA-CN 14 69558299 69558299 single base substitution A G intron_variant COCA-CN 14 69558399 69558399 single base substitution G A 3_prime_UTR_variant COCA-CN 14 69558399 69558399 single base substitution G A exon_variant COCA-CN 14 69558399 69558399 single base substitution G A missense_variant R208C 622C>T COCA-CN 14 69558399 69558399 single base substitution G A missense_variant R209C 625C>T COCA-CN 14 69558399 69558399 single base substitution G A missense_variant R290C 868C>T COCA-CN 14 69558399 69558399 single base substitution G A missense_variant R291C 871C>T EOPC-DE 14 69527870 69527870 single base substitution C T downstream_gene_variant EOPC-DE 14 69527870 69527870 single base substitution C T intron_variant EOPC-DE 14 69529623 69529623 single base substitution C A intron_variant EOPC-DE 14 69552903 69552903 single base substitution G A downstream_gene_variant EOPC-DE 14 69552903 69552903 single base substitution G A intron_variant ESAD-UK 14 69513761 69513761 single base substitution C T downstream_gene_variant ESAD-UK 14 69514374 69514374 single base substitution C T downstream_gene_variant ESAD-UK 14 69514389 69514389 single base substitution G A downstream_gene_variant ESAD-UK 14 69515522 69515522 single base substitution G T downstream_gene_variant ESAD-UK 14 69519064 69519064 single base substitution G A 3_prime_UTR_variant ESAD-UK 14 69519064 69519064 single base substitution G A downstream_gene_variant ESAD-UK 14 69521048 69521048 single base substitution C G downstream_gene_variant ESAD-UK 14 69521048 69521048 single base substitution C G synonymous_variant L703L 2109G>C ESAD-UK 14 69521048 69521048 single base substitution C G synonymous_variant L784L 2352G>C ESAD-UK 14 69521048 69521048 single base substitution C G synonymous_variant L785L 2355G>C ESAD-UK 14 69521345 69521345 single base substitution G A downstream_gene_variant ESAD-UK 14 69521345 69521345 single base substitution G A synonymous_variant T604T 1812C>T ESAD-UK 14 69521345 69521345 single base substitution G A synonymous_variant T685T 2055C>T ESAD-UK 14 69521345 69521345 single base substitution G A synonymous_variant T686T 2058C>T ESAD-UK 14 69522589 69522589 single base substitution A C intron_variant ESAD-UK 14 69523389 69523389 single base substitution C T intron_variant ESAD-UK 14 69525270 69525270 single base substitution G A downstream_gene_variant ESAD-UK 14 69525270 69525270 single base substitution G A intron_variant ESAD-UK 14 69526308 69526308 single base substitution G A downstream_gene_variant ESAD-UK 14 69526308 69526308 single base substitution G A intron_variant ESAD-UK 14 69528687 69528687 single base substitution C A downstream_gene_variant ESAD-UK 14 69528687 69528687 single base substitution C A intron_variant ESAD-UK 14 69530922 69530922 single base substitution C A intron_variant ESAD-UK 14 69531151 69531151 single base substitution G A intron_variant ESAD-UK 14 69533216 69533216 single base substitution C A intron_variant ESAD-UK 14 69534889 69534889 single base substitution C T intron_variant ESAD-UK 14 69536361 69536361 insertion of <=200bp - TTC intron_variant ESAD-UK 14 69537617 69537617 single base substitution C T intron_variant ESAD-UK 14 69540117 69540117 single base substitution A C intron_variant ESAD-UK 14 69550110 69550110 single base substitution A G intron_variant ESAD-UK 14 69550753 69550753 single base substitution C A intron_variant ESAD-UK 14 69551056 69551056 single base substitution G A downstream_gene_variant ESAD-UK 14 69551056 69551056 single base substitution G A intron_variant ESAD-UK 14 69554984 69554984 single base substitution C A downstream_gene_variant ESAD-UK 14 69554984 69554984 single base substitution C A intron_variant ESAD-UK 14 69557330 69557330 single base substitution A G 3_prime_UTR_variant ESAD-UK 14 69557330 69557330 single base substitution A G downstream_gene_variant ESAD-UK 14 69557330 69557330 single base substitution A G intron_variant ESAD-UK 14 69558350 69558350 single base substitution A T downstream_gene_variant ESAD-UK 14 69558350 69558350 single base substitution A T intron_variant ESAD-UK 14 69559779 69559779 single base substitution A C intron_variant ESAD-UK 14 69562416 69562416 single base substitution G A intron_variant ESAD-UK 14 69562613 69562613 single base substitution G A intron_variant ESAD-UK 14 69567492 69567492 single base substitution T C intron_variant ESAD-UK 14 69568626 69568626 single base substitution G A intron_variant ESAD-UK 14 69570922 69570922 deletion of <=200bp C - intron_variant ESAD-UK 14 69574659 69574659 single base substitution A C intron_variant ESAD-UK 14 69576703 69576703 single base substitution A G intron_variant ESAD-UK 14 69578649 69578649 single base substitution A T intron_variant ESAD-UK 14 69580205 69580205 single base substitution C T intron_variant ESAD-UK 14 69584086 69584086 single base substitution C T downstream_gene_variant ESAD-UK 14 69584086 69584086 single base substitution C T intron_variant ESAD-UK 14 69585167 69585167 deletion of <=200bp A - downstream_gene_variant ESAD-UK 14 69585167 69585167 deletion of <=200bp A - intron_variant ESAD-UK 14 69585167 69585167 deletion of <=200bp A - upstream_gene_variant ESAD-UK 14 69585980 69585980 single base substitution C T intron_variant ESAD-UK 14 69585980 69585980 single base substitution C T upstream_gene_variant ESAD-UK 14 69586246 69586249 deletion of <=200bp TAGT - intron_variant ESAD-UK 14 69586246 69586249 deletion of <=200bp TAGT - upstream_gene_variant ESAD-UK 14 69586979 69586979 single base substitution A T intron_variant ESAD-UK 14 69586979 69586979 single base substitution A T upstream_gene_variant ESAD-UK 14 69592444 69592444 single base substitution G T intron_variant ESAD-UK 14 69593559 69593559 single base substitution C T intron_variant ESAD-UK 14 69594812 69594812 single base substitution A G intron_variant ESAD-UK 14 69596156 69596156 single base substitution T G intron_variant ESAD-UK 14 69598749 69598749 single base substitution C G intron_variant ESAD-UK 14 69600170 69600170 single base substitution T G intron_variant ESAD-UK 14 69600978 69600978 single base substitution T C intron_variant ESAD-UK 14 69603131 69603131 single base substitution C A intron_variant ESAD-UK 14 69608857 69608857 single base substitution A T intron_variant ESAD-UK 14 69608858 69608858 deletion of <=200bp T - intron_variant ESAD-UK 14 69611106 69611106 single base substitution G A intron_variant ESAD-UK 14 69612241 69612241 single base substitution A T intron_variant ESAD-UK 14 69614903 69614903 single base substitution G C intron_variant ESAD-UK 14 69615282 69615282 single base substitution C T intron_variant ESAD-UK 14 69621651 69621651 single base substitution C T upstream_gene_variant ESAD-UK 14 69622527 69622527 insertion of <=200bp - T upstream_gene_variant ESCA-CN 14 69521737 69521737 single base substitution C T downstream_gene_variant ESCA-CN 14 69521737 69521737 single base substitution C T missense_variant E474K 1420G>A ESCA-CN 14 69521737 69521737 single base substitution C T missense_variant E555K 1663G>A ESCA-CN 14 69521737 69521737 single base substitution C T missense_variant E556K 1666G>A ESCA-CN 14 69619596 69619596 single base substitution G C exon_variant ESCA-CN 14 69619596 69619596 single base substitution G C intron_variant ESCA-CN 14 69619596 69619596 single base substitution G C missense_variant Q34E 100C>G ESCA-CN 14 69619596 69619596 single base substitution G C upstream_gene_variant GBM-US 14 69520671 69520671 single base substitution C T downstream_gene_variant GBM-US 14 69520671 69520671 single base substitution C T missense_variant R829K 2486G>A GBM-US 14 69520671 69520671 single base substitution C T missense_variant R910K 2729G>A GBM-US 14 69520671 69520671 single base substitution C T missense_variant R911K 2732G>A KIRC-US 14 69520975 69520975 single base substitution C T downstream_gene_variant KIRC-US 14 69520975 69520975 single base substitution C T missense_variant G728S 2182G>A KIRC-US 14 69520975 69520975 single base substitution C T missense_variant G809S 2425G>A KIRC-US 14 69520975 69520975 single base substitution C T missense_variant G810S 2428G>A KIRC-US 14 69589045 69589045 single base substitution T C exon_variant KIRC-US 14 69589045 69589045 single base substitution T C intron_variant KIRC-US 14 69589045 69589045 single base substitution T C missense_variant M83V 247A>G KIRC-US 14 69589045 69589045 single base substitution T C start_lost M1V 1A>G KIRC-US 14 69589045 69589045 single base substitution T C upstream_gene_variant KIRP-US 14 69521317 69521317 single base substitution T C downstream_gene_variant KIRP-US 14 69521317 69521317 single base substitution T C missense_variant T614A 1840A>G KIRP-US 14 69521317 69521317 single base substitution T C missense_variant T695A 2083A>G KIRP-US 14 69521317 69521317 single base substitution T C missense_variant T696A 2086A>G LAML-KR 14 69520532 69520532 single base substitution G T 3_prime_UTR_variant LAML-KR 14 69520532 69520532 single base substitution G T downstream_gene_variant LAML-KR 14 69584947 69584947 single base substitution C A 5_prime_UTR_variant LAML-KR 14 69584947 69584947 single base substitution C A downstream_gene_variant LAML-KR 14 69584947 69584947 single base substitution C A missense_variant L147F 441G>T LAML-KR 14 69584947 69584947 single base substitution C A missense_variant L148F 444G>T LAML-KR 14 69584947 69584947 single base substitution C A missense_variant L65F 195G>T LAML-KR 14 69584947 69584947 single base substitution C A missense_variant L66F 198G>T LAML-KR 14 69584947 69584947 single base substitution C A upstream_gene_variant LAML-KR 14 69586040 69586040 single base substitution T C intron_variant LAML-KR 14 69586040 69586040 single base substitution T C upstream_gene_variant LAML-KR 14 69613813 69613813 single base substitution C T intron_variant LICA-FR 14 69521952 69521952 single base substitution C T exon_variant LICA-FR 14 69521952 69521952 single base substitution C T missense_variant G402E 1205G>A LICA-FR 14 69521952 69521952 single base substitution C T missense_variant G483E 1448G>A LICA-FR 14 69521952 69521952 single base substitution C T missense_variant G484E 1451G>A LICA-FR 14 69523456 69523456 single base substitution C A intron_variant LICA-FR 14 69531814 69531814 insertion of <=200bp - T intron_variant LICA-FR 14 69532503 69532503 single base substitution C G intron_variant LICA-FR 14 69544083 69544083 insertion of <=200bp - TTATTTAT intron_variant LICA-FR 14 69566904 69566904 single base substitution T C intron_variant LICA-FR 14 69572242 69572242 single base substitution T C intron_variant LICA-FR 14 69585512 69585512 single base substitution G T downstream_gene_variant LICA-FR 14 69585512 69585512 single base substitution G T intron_variant LICA-FR 14 69585512 69585512 single base substitution G T upstream_gene_variant LICA-FR 14 69600510 69600510 single base substitution A T intron_variant LIHC-US 14 69520835 69520835 single base substitution C T downstream_gene_variant LIHC-US 14 69520835 69520835 single base substitution C T synonymous_variant V774V 2322G>A LIHC-US 14 69520835 69520835 single base substitution C T synonymous_variant V855V 2565G>A LIHC-US 14 69520835 69520835 single base substitution C T synonymous_variant V856V 2568G>A LIHC-US 14 69522154 69522154 single base substitution C A exon_variant LIHC-US 14 69522154 69522154 single base substitution C A missense_variant A335S 1003G>T LIHC-US 14 69522154 69522154 single base substitution C A missense_variant A416S 1246G>T LIHC-US 14 69522154 69522154 single base substitution C A missense_variant A417S 1249G>T LIHC-US 14 69584924 69584924 single base substitution T C downstream_gene_variant LIHC-US 14 69584924 69584924 single base substitution T C exon_variant LIHC-US 14 69584924 69584924 single base substitution T C missense_variant N155S 464A>G LIHC-US 14 69584924 69584924 single base substitution T C missense_variant N156S 467A>G LIHC-US 14 69584924 69584924 single base substitution T C missense_variant N73S 218A>G LIHC-US 14 69584924 69584924 single base substitution T C missense_variant N74S 221A>G LIHC-US 14 69584924 69584924 single base substitution T C upstream_gene_variant LINC-JP 14 69541924 69541924 single base substitution T C intron_variant LINC-JP 14 69557540 69557540 single base substitution G T 3_prime_UTR_variant LINC-JP 14 69557540 69557540 single base substitution G T downstream_gene_variant LINC-JP 14 69557540 69557540 single base substitution G T intron_variant LINC-JP 14 69561641 69561641 single base substitution G C intron_variant LINC-JP 14 69566496 69566496 single base substitution C A intron_variant LINC-JP 14 69567036 69567036 single base substitution G A intron_variant LINC-JP 14 69573761 69573761 single base substitution A T intron_variant LINC-JP 14 69577895 69577895 single base substitution T C intron_variant LINC-JP 14 69585684 69585684 deletion of <=200bp A - downstream_gene_variant LINC-JP 14 69585684 69585684 deletion of <=200bp A - intron_variant LINC-JP 14 69585684 69585684 deletion of <=200bp A - upstream_gene_variant LINC-JP 14 69588775 69588775 single base substitution T C intron_variant LINC-JP 14 69588775 69588775 single base substitution T C upstream_gene_variant LINC-JP 14 69588867 69588867 single base substitution T C intron_variant LINC-JP 14 69588867 69588867 single base substitution T C upstream_gene_variant LINC-JP 14 69589074 69589074 single base substitution C A 5_prime_UTR_variant LINC-JP 14 69589074 69589074 single base substitution C A exon_variant LINC-JP 14 69589074 69589074 single base substitution C A intron_variant LINC-JP 14 69589074 69589074 single base substitution C A missense_variant G73V 218G>T LINC-JP 14 69589074 69589074 single base substitution C A upstream_gene_variant LINC-JP 14 69596994 69596994 single base substitution T C intron_variant LINC-JP 14 69598477 69598477 deletion of <=200bp T - intron_variant LINC-JP 14 69598568 69598568 single base substitution T C intron_variant LIRI-JP 14 69519037 69519037 single base substitution C T 3_prime_UTR_variant LIRI-JP 14 69519037 69519037 single base substitution C T downstream_gene_variant LIRI-JP 14 69519479 69519479 single base substitution A C 3_prime_UTR_variant LIRI-JP 14 69519479 69519479 single base substitution A C downstream_gene_variant LIRI-JP 14 69522606 69522606 single base substitution C T intron_variant LIRI-JP 14 69527011 69527011 single base substitution A C downstream_gene_variant LIRI-JP 14 69527011 69527011 single base substitution A C intron_variant LIRI-JP 14 69527322 69527322 single base substitution C T downstream_gene_variant LIRI-JP 14 69527322 69527322 single base substitution C T intron_variant LIRI-JP 14 69527838 69527838 single base substitution T C downstream_gene_variant LIRI-JP 14 69527838 69527838 single base substitution T C intron_variant LIRI-JP 14 69528684 69528684 single base substitution C A downstream_gene_variant LIRI-JP 14 69528684 69528684 single base substitution C A intron_variant LIRI-JP 14 69530434 69530434 single base substitution A G intron_variant LIRI-JP 14 69531642 69531642 single base substitution T C intron_variant LIRI-JP 14 69536975 69536975 single base substitution T C intron_variant LIRI-JP 14 69537963 69537963 single base substitution G A intron_variant LIRI-JP 14 69538341 69538341 single base substitution G A intron_variant LIRI-JP 14 69540070 69540070 single base substitution A C intron_variant LIRI-JP 14 69542871 69542871 single base substitution G T intron_variant LIRI-JP 14 69543033 69543033 single base substitution A G intron_variant LIRI-JP 14 69545681 69545681 single base substitution G T intron_variant LIRI-JP 14 69547669 69547684 deletion of <=200bp TTCTAAACATGACGAG - intron_variant LIRI-JP 14 69548398 69548398 single base substitution T C intron_variant LIRI-JP 14 69548571 69548571 single base substitution T A intron_variant LIRI-JP 14 69549868 69549868 single base substitution T C intron_variant LIRI-JP 14 69550221 69550221 single base substitution C G intron_variant LIRI-JP 14 69550436 69550436 single base substitution A C intron_variant LIRI-JP 14 69552095 69552095 single base substitution T C downstream_gene_variant LIRI-JP 14 69552095 69552095 single base substitution T C intron_variant LIRI-JP 14 69552711 69552711 single base substitution C T downstream_gene_variant LIRI-JP 14 69552711 69552711 single base substitution C T intron_variant LIRI-JP 14 69552932 69552932 single base substitution G A downstream_gene_variant LIRI-JP 14 69552932 69552932 single base substitution G A intron_variant LIRI-JP 14 69554817 69554817 single base substitution T C downstream_gene_variant LIRI-JP 14 69554817 69554817 single base substitution T C intron_variant LIRI-JP 14 69556357 69556357 single base substitution T C 3_prime_UTR_variant LIRI-JP 14 69556357 69556357 single base substitution T C downstream_gene_variant LIRI-JP 14 69556357 69556357 single base substitution T C intron_variant LIRI-JP 14 69557167 69557167 single base substitution T C 3_prime_UTR_variant LIRI-JP 14 69557167 69557167 single base substitution T C downstream_gene_variant LIRI-JP 14 69557167 69557167 single base substitution T C intron_variant LIRI-JP 14 69557425 69557425 single base substitution C T 3_prime_UTR_variant LIRI-JP 14 69557425 69557425 single base substitution C T downstream_gene_variant LIRI-JP 14 69557425 69557425 single base substitution C T intron_variant LIRI-JP 14 69560232 69560232 single base substitution A T intron_variant LIRI-JP 14 69568338 69568338 single base substitution T G intron_variant LIRI-JP 14 69570309 69570309 single base substitution T C intron_variant LIRI-JP 14 69575773 69575773 single base substitution T C intron_variant LIRI-JP 14 69578180 69578180 single base substitution T C intron_variant LIRI-JP 14 69579053 69579053 single base substitution T C intron_variant LIRI-JP 14 69579455 69579455 single base substitution T C intron_variant LIRI-JP 14 69579754 69579754 single base substitution C A intron_variant LIRI-JP 14 69579755 69579755 single base substitution C T intron_variant LIRI-JP 14 69582545 69582545 single base substitution T C downstream_gene_variant LIRI-JP 14 69582545 69582545 single base substitution T C intron_variant LIRI-JP 14 69582549 69582549 single base substitution T C downstream_gene_variant LIRI-JP 14 69582549 69582549 single base substitution T C intron_variant LIRI-JP 14 69583095 69583095 single base substitution C A downstream_gene_variant LIRI-JP 14 69583095 69583095 single base substitution C A exon_variant LIRI-JP 14 69583095 69583095 single base substitution C A missense_variant R135L 404G>T LIRI-JP 14 69583095 69583095 single base substitution C A missense_variant R136L 407G>T LIRI-JP 14 69583095 69583095 single base substitution C A missense_variant R217L 650G>T LIRI-JP 14 69583095 69583095 single base substitution C A missense_variant R218L 653G>T LIRI-JP 14 69587790 69587790 single base substitution T C intron_variant LIRI-JP 14 69587790 69587790 single base substitution T C upstream_gene_variant LIRI-JP 14 69589841 69589841 single base substitution T C intron_variant LIRI-JP 14 69589841 69589841 single base substitution T C upstream_gene_variant LIRI-JP 14 69590327 69590327 single base substitution C T intron_variant LIRI-JP 14 69590945 69590945 single base substitution T C intron_variant LIRI-JP 14 69592037 69592037 single base substitution A C intron_variant LIRI-JP 14 69592580 69592580 single base substitution C A intron_variant LIRI-JP 14 69592748 69592748 single base substitution T A intron_variant LIRI-JP 14 69596551 69596551 single base substitution C A intron_variant LIRI-JP 14 69596552 69596552 single base substitution C T intron_variant LIRI-JP 14 69597456 69597456 single base substitution A G intron_variant LIRI-JP 14 69597496 69597496 single base substitution G C intron_variant LIRI-JP 14 69601077 69601077 single base substitution T C intron_variant LIRI-JP 14 69606799 69606799 single base substitution G A intron_variant LIRI-JP 14 69615886 69615886 single base substitution C T intron_variant LIRI-JP 14 69617670 69617670 single base substitution C T intron_variant LIRI-JP 14 69623046 69623046 single base substitution A G upstream_gene_variant LIRI-JP 14 69624406 69624406 single base substitution T C upstream_gene_variant LUSC-KR 14 69512987 69512987 single base substitution C T downstream_gene_variant LUSC-KR 14 69535585 69535585 single base substitution G A intron_variant LUSC-KR 14 69542891 69542891 single base substitution T C intron_variant LUSC-KR 14 69547898 69547898 single base substitution C T intron_variant LUSC-KR 14 69565578 69565578 single base substitution C A intron_variant LUSC-KR 14 69568844 69568844 single base substitution G T intron_variant LUSC-KR 14 69569275 69569275 single base substitution A T intron_variant LUSC-KR 14 69569296 69569296 single base substitution G T intron_variant LUSC-KR 14 69577217 69577217 single base substitution C T intron_variant LUSC-KR 14 69595445 69595445 single base substitution A G intron_variant LUSC-KR 14 69602850 69602850 single base substitution G T intron_variant LUSC-US 14 69521476 69521476 single base substitution G A downstream_gene_variant LUSC-US 14 69521476 69521476 single base substitution G A stop_gained Q561* 1681C>T LUSC-US 14 69521476 69521476 single base substitution G A stop_gained Q642* 1924C>T LUSC-US 14 69521476 69521476 single base substitution G A stop_gained Q643* 1927C>T LUSC-US 14 69521877 69521877 single base substitution C A downstream_gene_variant LUSC-US 14 69521877 69521877 single base substitution C A missense_variant R427L 1280G>T LUSC-US 14 69521877 69521877 single base substitution C A missense_variant R508L 1523G>T LUSC-US 14 69521877 69521877 single base substitution C A missense_variant R509L 1526G>T LUSC-US 14 69522303 69522303 single base substitution C A exon_variant LUSC-US 14 69522303 69522303 single base substitution C A missense_variant G285V 854G>T LUSC-US 14 69522303 69522303 single base substitution C A missense_variant G366V 1097G>T LUSC-US 14 69522303 69522303 single base substitution C A missense_variant G367V 1100G>T LUSC-US 14 69529207 69529207 single base substitution T C 3_prime_UTR_variant LUSC-US 14 69529207 69529207 single base substitution T C intron_variant LUSC-US 14 69529207 69529207 single base substitution T C missense_variant N241S 722A>G LUSC-US 14 69529207 69529207 single base substitution T C missense_variant N322S 965A>G LUSC-US 14 69529207 69529207 single base substitution T C missense_variant N323S 968A>G LUSC-US 14 69558590 69558590 single base substitution T C exon_variant LUSC-US 14 69558590 69558590 single base substitution T C missense_variant Y144C 431A>G LUSC-US 14 69558590 69558590 single base substitution T C missense_variant Y145C 434A>G LUSC-US 14 69558590 69558590 single base substitution T C missense_variant Y226C 677A>G LUSC-US 14 69558590 69558590 single base substitution T C missense_variant Y227C 680A>G LUSC-US 14 69584943 69584943 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant LUSC-US 14 69584943 69584943 single base substitution C A downstream_gene_variant LUSC-US 14 69584943 69584943 single base substitution C A missense_variant V149L 445G>T LUSC-US 14 69584943 69584943 single base substitution C A missense_variant V150L 448G>T LUSC-US 14 69584943 69584943 single base substitution C A missense_variant V67L 199G>T LUSC-US 14 69584943 69584943 single base substitution C A missense_variant V68L 202G>T LUSC-US 14 69584943 69584943 single base substitution C A upstream_gene_variant LUSC-US 14 69585939 69585939 single base substitution C A 5_prime_UTR_variant LUSC-US 14 69585939 69585939 single base substitution C A exon_variant LUSC-US 14 69585939 69585939 single base substitution C A stop_gained E123* 367G>T LUSC-US 14 69585939 69585939 single base substitution C A stop_gained E41* 121G>T LUSC-US 14 69585939 69585939 single base substitution C A upstream_gene_variant MALY-DE 14 69513126 69513126 single base substitution C T downstream_gene_variant MALY-DE 14 69518917 69518917 single base substitution T G 3_prime_UTR_variant MALY-DE 14 69518917 69518917 single base substitution T G downstream_gene_variant MALY-DE 14 69529182 69529182 single base substitution C G 3_prime_UTR_variant MALY-DE 14 69529182 69529182 single base substitution C G intron_variant MALY-DE 14 69529182 69529182 single base substitution C G synonymous_variant G249G 747G>C MALY-DE 14 69529182 69529182 single base substitution C G synonymous_variant G330G 990G>C MALY-DE 14 69529182 69529182 single base substitution C G synonymous_variant G331G 993G>C MALY-DE 14 69539378 69539378 single base substitution A G intron_variant MALY-DE 14 69539398 69539398 single base substitution A G intron_variant MALY-DE 14 69542286 69542286 single base substitution A C intron_variant MALY-DE 14 69564060 69564060 single base substitution T A intron_variant MALY-DE 14 69564305 69564305 single base substitution T A intron_variant MALY-DE 14 69569099 69569099 single base substitution C T intron_variant MALY-DE 14 69574071 69574071 deletion of <=200bp T - intron_variant MALY-DE 14 69579750 69579750 single base substitution T C intron_variant MALY-DE 14 69579752 69579752 single base substitution T G intron_variant MALY-DE 14 69593464 69593464 single base substitution G T intron_variant MALY-DE 14 69617488 69617488 single base substitution A T intron_variant MALY-DE 14 69621211 69621211 single base substitution G A upstream_gene_variant MELA-AU 14 69512661 69512661 single base substitution G A downstream_gene_variant MELA-AU 14 69512699 69512699 single base substitution C T downstream_gene_variant MELA-AU 14 69513014 69513014 single base substitution G A downstream_gene_variant MELA-AU 14 69513228 69513228 single base substitution G A downstream_gene_variant MELA-AU 14 69513374 69513374 single base substitution G A downstream_gene_variant MELA-AU 14 69513898 69513898 single base substitution C T downstream_gene_variant MELA-AU 14 69514239 69514239 single base substitution G A downstream_gene_variant MELA-AU 14 69514312 69514312 single base substitution G A downstream_gene_variant MELA-AU 14 69515455 69515455 single base substitution C T downstream_gene_variant MELA-AU 14 69515698 69515699 multiple base substitution (>=2bp and <=200bp) GA AC downstream_gene_variant MELA-AU 14 69515770 69515770 single base substitution G A downstream_gene_variant MELA-AU 14 69516354 69516354 single base substitution C G downstream_gene_variant MELA-AU 14 69516528 69516528 single base substitution G A downstream_gene_variant MELA-AU 14 69516941 69516941 single base substitution G A downstream_gene_variant MELA-AU 14 69518222 69518222 single base substitution G A 3_prime_UTR_variant MELA-AU 14 69518222 69518222 single base substitution G A downstream_gene_variant MELA-AU 14 69519384 69519384 single base substitution G A 3_prime_UTR_variant MELA-AU 14 69519384 69519384 single base substitution G A downstream_gene_variant MELA-AU 14 69520290 69520290 single base substitution T G 3_prime_UTR_variant MELA-AU 14 69520290 69520290 single base substitution T G downstream_gene_variant MELA-AU 14 69520355 69520355 single base substitution T C 3_prime_UTR_variant MELA-AU 14 69520355 69520355 single base substitution T C downstream_gene_variant MELA-AU 14 69520769 69520769 single base substitution G A downstream_gene_variant MELA-AU 14 69520769 69520769 single base substitution G A synonymous_variant L796L 2388C>T MELA-AU 14 69520769 69520769 single base substitution G A synonymous_variant L877L 2631C>T MELA-AU 14 69520769 69520769 single base substitution G A synonymous_variant L878L 2634C>T MELA-AU 14 69521269 69521269 single base substitution G A downstream_gene_variant MELA-AU 14 69521269 69521269 single base substitution G A synonymous_variant L630L 1888C>T MELA-AU 14 69521269 69521269 single base substitution G A synonymous_variant L711L 2131C>T MELA-AU 14 69521269 69521269 single base substitution G A synonymous_variant L712L 2134C>T MELA-AU 14 69521377 69521377 single base substitution T C downstream_gene_variant MELA-AU 14 69521377 69521377 single base substitution T C missense_variant N594D 1780A>G MELA-AU 14 69521377 69521377 single base substitution T C missense_variant N675D 2023A>G MELA-AU 14 69521377 69521377 single base substitution T C missense_variant N676D 2026A>G MELA-AU 14 69522027 69522027 single base substitution G A exon_variant MELA-AU 14 69522027 69522027 single base substitution G A missense_variant S377L 1130C>T MELA-AU 14 69522027 69522027 single base substitution G A missense_variant S458L 1373C>T MELA-AU 14 69522027 69522027 single base substitution G A missense_variant S459L 1376C>T MELA-AU 14 69522175 69522175 single base substitution G A exon_variant MELA-AU 14 69522175 69522175 single base substitution G A stop_gained Q328* 982C>T MELA-AU 14 69522175 69522175 single base substitution G A stop_gained Q409* 1225C>T MELA-AU 14 69522175 69522175 single base substitution G A stop_gained Q410* 1228C>T MELA-AU 14 69522287 69522287 single base substitution G A exon_variant MELA-AU 14 69522287 69522287 single base substitution G A synonymous_variant L290L 870C>T MELA-AU 14 69522287 69522287 single base substitution G A synonymous_variant L371L 1113C>T MELA-AU 14 69522287 69522287 single base substitution G A synonymous_variant L372L 1116C>T MELA-AU 14 69522718 69522718 single base substitution C T intron_variant MELA-AU 14 69523555 69523555 single base substitution G A intron_variant MELA-AU 14 69524050 69524051 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 69524051 69524051 single base substitution G A intron_variant MELA-AU 14 69525165 69525165 single base substitution G A downstream_gene_variant MELA-AU 14 69525165 69525165 single base substitution G A intron_variant MELA-AU 14 69525320 69525320 single base substitution G A downstream_gene_variant MELA-AU 14 69525320 69525320 single base substitution G A intron_variant MELA-AU 14 69525454 69525454 single base substitution G A downstream_gene_variant MELA-AU 14 69525454 69525454 single base substitution G A intron_variant MELA-AU 14 69525518 69525518 single base substitution G A downstream_gene_variant MELA-AU 14 69525518 69525518 single base substitution G A intron_variant MELA-AU 14 69526564 69526564 single base substitution G A downstream_gene_variant MELA-AU 14 69526564 69526564 single base substitution G A intron_variant MELA-AU 14 69526705 69526705 single base substitution A T downstream_gene_variant MELA-AU 14 69526705 69526705 single base substitution A T intron_variant MELA-AU 14 69526835 69526835 single base substitution G A downstream_gene_variant MELA-AU 14 69526835 69526835 single base substitution G A intron_variant MELA-AU 14 69527100 69527100 single base substitution G A downstream_gene_variant MELA-AU 14 69527100 69527100 single base substitution G A intron_variant MELA-AU 14 69527232 69527232 single base substitution C A downstream_gene_variant MELA-AU 14 69527232 69527232 single base substitution C A intron_variant MELA-AU 14 69527727 69527727 single base substitution G A downstream_gene_variant MELA-AU 14 69527727 69527727 single base substitution G A intron_variant MELA-AU 14 69527844 69527844 single base substitution C T downstream_gene_variant MELA-AU 14 69527844 69527844 single base substitution C T intron_variant MELA-AU 14 69528190 69528190 single base substitution G A downstream_gene_variant MELA-AU 14 69528190 69528190 single base substitution G A intron_variant MELA-AU 14 69528380 69528380 single base substitution C T downstream_gene_variant MELA-AU 14 69528380 69528380 single base substitution C T intron_variant MELA-AU 14 69528736 69528736 single base substitution G A downstream_gene_variant MELA-AU 14 69528736 69528736 single base substitution G A intron_variant MELA-AU 14 69528924 69528924 single base substitution T A downstream_gene_variant MELA-AU 14 69528924 69528924 single base substitution T A intron_variant MELA-AU 14 69529511 69529511 single base substitution C T intron_variant MELA-AU 14 69529753 69529753 single base substitution G A intron_variant MELA-AU 14 69529755 69529755 single base substitution A T intron_variant MELA-AU 14 69530038 69530038 single base substitution G A intron_variant MELA-AU 14 69530120 69530120 single base substitution T C intron_variant MELA-AU 14 69530287 69530287 single base substitution T G intron_variant MELA-AU 14 69531070 69531070 single base substitution G A intron_variant MELA-AU 14 69531698 69531698 single base substitution C T intron_variant MELA-AU 14 69531700 69531700 single base substitution T A intron_variant MELA-AU 14 69532082 69532082 single base substitution G A intron_variant MELA-AU 14 69533366 69533366 single base substitution G A intron_variant MELA-AU 14 69534844 69534844 single base substitution G A intron_variant MELA-AU 14 69535234 69535234 single base substitution G A intron_variant MELA-AU 14 69536015 69536015 single base substitution G A intron_variant MELA-AU 14 69536357 69536357 single base substitution C T intron_variant MELA-AU 14 69536768 69536768 single base substitution G A intron_variant MELA-AU 14 69536957 69536957 single base substitution G A intron_variant MELA-AU 14 69537046 69537046 single base substitution G A intron_variant MELA-AU 14 69537079 69537079 single base substitution G A intron_variant MELA-AU 14 69537811 69537811 single base substitution G A intron_variant MELA-AU 14 69537836 69537836 single base substitution G A intron_variant MELA-AU 14 69538292 69538292 single base substitution G A intron_variant MELA-AU 14 69538322 69538322 single base substitution G A intron_variant MELA-AU 14 69538334 69538334 single base substitution G A intron_variant MELA-AU 14 69539171 69539171 single base substitution T A intron_variant MELA-AU 14 69539364 69539364 single base substitution G A intron_variant MELA-AU 14 69540144 69540144 single base substitution C T intron_variant MELA-AU 14 69540267 69540267 single base substitution G A intron_variant MELA-AU 14 69540402 69540402 single base substitution A T intron_variant MELA-AU 14 69540495 69540495 single base substitution G A intron_variant MELA-AU 14 69541356 69541356 single base substitution G A intron_variant MELA-AU 14 69542415 69542415 single base substitution G A intron_variant MELA-AU 14 69542597 69542597 single base substitution C A intron_variant MELA-AU 14 69542692 69542692 single base substitution G A intron_variant MELA-AU 14 69543062 69543062 single base substitution C T intron_variant MELA-AU 14 69543071 69543071 single base substitution A C intron_variant MELA-AU 14 69543767 69543767 single base substitution T C intron_variant MELA-AU 14 69544054 69544054 single base substitution G A intron_variant MELA-AU 14 69544101 69544101 single base substitution A T intron_variant MELA-AU 14 69544333 69544333 single base substitution G A intron_variant MELA-AU 14 69544568 69544568 single base substitution A T intron_variant MELA-AU 14 69544796 69544796 single base substitution A T intron_variant MELA-AU 14 69544833 69544833 single base substitution G A intron_variant MELA-AU 14 69545050 69545050 single base substitution G A intron_variant MELA-AU 14 69545410 69545410 single base substitution G A intron_variant MELA-AU 14 69545469 69545469 single base substitution G A intron_variant MELA-AU 14 69546030 69546030 single base substitution G A intron_variant MELA-AU 14 69546127 69546128 multiple base substitution (>=2bp and <=200bp) GG CA intron_variant MELA-AU 14 69546965 69546965 single base substitution G A intron_variant MELA-AU 14 69547084 69547084 single base substitution G A intron_variant MELA-AU 14 69547346 69547346 single base substitution G A intron_variant MELA-AU 14 69547463 69547464 deletion of <=200bp TA - intron_variant MELA-AU 14 69547582 69547582 single base substitution A T intron_variant MELA-AU 14 69547731 69547731 single base substitution T C intron_variant MELA-AU 14 69548991 69548991 single base substitution A G intron_variant MELA-AU 14 69549172 69549172 single base substitution G A intron_variant MELA-AU 14 69550108 69550108 single base substitution G A intron_variant MELA-AU 14 69550250 69550250 single base substitution G A intron_variant MELA-AU 14 69550481 69550481 single base substitution G A intron_variant MELA-AU 14 69550723 69550723 single base substitution A G intron_variant MELA-AU 14 69550815 69550815 single base substitution A G intron_variant MELA-AU 14 69550876 69550876 single base substitution G A intron_variant MELA-AU 14 69551022 69551022 single base substitution G A downstream_gene_variant MELA-AU 14 69551022 69551022 single base substitution G A intron_variant MELA-AU 14 69551327 69551327 single base substitution G T downstream_gene_variant MELA-AU 14 69551327 69551327 single base substitution G T intron_variant MELA-AU 14 69551660 69551660 single base substitution G A downstream_gene_variant MELA-AU 14 69551660 69551660 single base substitution G A intron_variant MELA-AU 14 69551866 69551866 single base substitution G A downstream_gene_variant MELA-AU 14 69551866 69551866 single base substitution G A intron_variant MELA-AU 14 69552137 69552137 single base substitution T C downstream_gene_variant MELA-AU 14 69552137 69552137 single base substitution T C intron_variant MELA-AU 14 69552883 69552883 single base substitution G A downstream_gene_variant MELA-AU 14 69552883 69552883 single base substitution G A intron_variant MELA-AU 14 69553058 69553058 single base substitution G A downstream_gene_variant MELA-AU 14 69553058 69553058 single base substitution G A intron_variant MELA-AU 14 69553234 69553234 single base substitution G A downstream_gene_variant MELA-AU 14 69553234 69553234 single base substitution G A intron_variant MELA-AU 14 69553517 69553517 single base substitution G A downstream_gene_variant MELA-AU 14 69553517 69553517 single base substitution G A intron_variant MELA-AU 14 69553547 69553547 single base substitution G A downstream_gene_variant MELA-AU 14 69553547 69553547 single base substitution G A intron_variant MELA-AU 14 69553570 69553570 single base substitution G A downstream_gene_variant MELA-AU 14 69553570 69553570 single base substitution G A intron_variant MELA-AU 14 69553720 69553720 single base substitution G A downstream_gene_variant MELA-AU 14 69553720 69553720 single base substitution G A intron_variant MELA-AU 14 69554045 69554045 single base substitution G A downstream_gene_variant MELA-AU 14 69554045 69554045 single base substitution G A intron_variant MELA-AU 14 69554048 69554048 single base substitution G A downstream_gene_variant MELA-AU 14 69554048 69554048 single base substitution G A intron_variant MELA-AU 14 69554404 69554404 single base substitution C T downstream_gene_variant MELA-AU 14 69554404 69554404 single base substitution C T intron_variant MELA-AU 14 69554964 69554964 single base substitution C T downstream_gene_variant MELA-AU 14 69554964 69554964 single base substitution C T intron_variant MELA-AU 14 69555382 69555382 single base substitution G A downstream_gene_variant MELA-AU 14 69555382 69555382 single base substitution G A intron_variant MELA-AU 14 69556864 69556864 single base substitution G A 3_prime_UTR_variant MELA-AU 14 69556864 69556864 single base substitution G A downstream_gene_variant MELA-AU 14 69556864 69556864 single base substitution G A intron_variant MELA-AU 14 69557385 69557385 single base substitution G A 3_prime_UTR_variant MELA-AU 14 69557385 69557385 single base substitution G A downstream_gene_variant MELA-AU 14 69557385 69557385 single base substitution G A intron_variant MELA-AU 14 69557807 69557807 single base substitution C T downstream_gene_variant MELA-AU 14 69557807 69557807 single base substitution C T intron_variant MELA-AU 14 69557807 69557807 single base substitution C T missense_variant G316R 946G>A MELA-AU 14 69558169 69558169 single base substitution A G downstream_gene_variant MELA-AU 14 69558169 69558169 single base substitution A G intron_variant MELA-AU 14 69558538 69558538 single base substitution G A 3_prime_UTR_variant MELA-AU 14 69558538 69558538 single base substitution G A exon_variant MELA-AU 14 69558538 69558538 single base substitution G A synonymous_variant N161N 483C>T MELA-AU 14 69558538 69558538 single base substitution G A synonymous_variant N162N 486C>T MELA-AU 14 69558538 69558538 single base substitution G A synonymous_variant N243N 729C>T MELA-AU 14 69558538 69558538 single base substitution G A synonymous_variant N244N 732C>T MELA-AU 14 69559093 69559093 single base substitution G A intron_variant MELA-AU 14 69560644 69560644 single base substitution A C intron_variant MELA-AU 14 69562217 69562217 single base substitution C A intron_variant MELA-AU 14 69562219 69562219 single base substitution A T intron_variant MELA-AU 14 69562401 69562401 single base substitution G A intron_variant MELA-AU 14 69562440 69562440 single base substitution G A intron_variant MELA-AU 14 69563037 69563037 single base substitution G A intron_variant MELA-AU 14 69564305 69564305 single base substitution T A intron_variant MELA-AU 14 69564306 69564306 single base substitution T A intron_variant MELA-AU 14 69564484 69564484 single base substitution A T intron_variant MELA-AU 14 69564614 69564614 single base substitution G A intron_variant MELA-AU 14 69565150 69565150 single base substitution T C intron_variant MELA-AU 14 69565185 69565185 single base substitution G A intron_variant MELA-AU 14 69565418 69565418 single base substitution G A intron_variant MELA-AU 14 69566622 69566622 single base substitution T C intron_variant MELA-AU 14 69568126 69568126 single base substitution C T intron_variant MELA-AU 14 69568182 69568182 single base substitution A C intron_variant MELA-AU 14 69568288 69568288 single base substitution A G intron_variant MELA-AU 14 69568347 69568347 single base substitution G A intron_variant MELA-AU 14 69568720 69568720 single base substitution C T intron_variant MELA-AU 14 69569470 69569470 single base substitution G A intron_variant MELA-AU 14 69569937 69569937 single base substitution G A intron_variant MELA-AU 14 69569938 69569938 single base substitution G A intron_variant MELA-AU 14 69570112 69570112 single base substitution A C intron_variant MELA-AU 14 69570754 69570754 single base substitution G A intron_variant MELA-AU 14 69571345 69571345 single base substitution G A intron_variant MELA-AU 14 69572779 69572779 single base substitution T C intron_variant MELA-AU 14 69573055 69573055 single base substitution G T intron_variant MELA-AU 14 69573057 69573057 single base substitution G A intron_variant MELA-AU 14 69573455 69573455 single base substitution G A intron_variant MELA-AU 14 69573757 69573757 single base substitution T C intron_variant MELA-AU 14 69573768 69573768 single base substitution A T intron_variant MELA-AU 14 69574470 69574470 single base substitution G A intron_variant MELA-AU 14 69575209 69575209 single base substitution G A intron_variant MELA-AU 14 69575699 69575699 single base substitution G A intron_variant MELA-AU 14 69576173 69576173 single base substitution G A intron_variant MELA-AU 14 69577710 69577710 single base substitution A G intron_variant MELA-AU 14 69578127 69578127 single base substitution G A intron_variant MELA-AU 14 69578538 69578538 single base substitution G A intron_variant MELA-AU 14 69579069 69579069 single base substitution G A intron_variant MELA-AU 14 69579914 69579914 single base substitution G A intron_variant MELA-AU 14 69579954 69579954 single base substitution G A intron_variant MELA-AU 14 69580307 69580307 single base substitution G A intron_variant MELA-AU 14 69580443 69580443 single base substitution G A intron_variant MELA-AU 14 69580509 69580509 single base substitution G A intron_variant MELA-AU 14 69580517 69580517 single base substitution G A intron_variant MELA-AU 14 69581384 69581384 single base substitution G A downstream_gene_variant MELA-AU 14 69581384 69581384 single base substitution G A intron_variant MELA-AU 14 69581564 69581565 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 14 69581564 69581565 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 69581812 69581812 single base substitution G A downstream_gene_variant MELA-AU 14 69581812 69581812 single base substitution G A intron_variant MELA-AU 14 69582346 69582346 single base substitution C T downstream_gene_variant MELA-AU 14 69582346 69582346 single base substitution C T intron_variant MELA-AU 14 69583066 69583066 single base substitution G A downstream_gene_variant MELA-AU 14 69583066 69583066 single base substitution G A intron_variant MELA-AU 14 69585000 69585000 single base substitution G A downstream_gene_variant MELA-AU 14 69585000 69585000 single base substitution G A splice_region_variant MELA-AU 14 69585000 69585000 single base substitution G A upstream_gene_variant MELA-AU 14 69585369 69585369 single base substitution G A downstream_gene_variant MELA-AU 14 69585369 69585369 single base substitution G A intron_variant MELA-AU 14 69585369 69585369 single base substitution G A upstream_gene_variant MELA-AU 14 69585761 69585761 single base substitution A T downstream_gene_variant MELA-AU 14 69585761 69585761 single base substitution A T intron_variant MELA-AU 14 69585761 69585761 single base substitution A T upstream_gene_variant MELA-AU 14 69586232 69586232 single base substitution C A intron_variant MELA-AU 14 69586232 69586232 single base substitution C A upstream_gene_variant MELA-AU 14 69586820 69586820 single base substitution A T intron_variant MELA-AU 14 69586820 69586820 single base substitution A T upstream_gene_variant MELA-AU 14 69587132 69587132 single base substitution A G intron_variant MELA-AU 14 69587132 69587132 single base substitution A G upstream_gene_variant MELA-AU 14 69588273 69588273 single base substitution C T intron_variant MELA-AU 14 69588273 69588273 single base substitution C T upstream_gene_variant MELA-AU 14 69588851 69588851 single base substitution G A intron_variant MELA-AU 14 69588851 69588851 single base substitution G A upstream_gene_variant MELA-AU 14 69588986 69588986 single base substitution G A exon_variant MELA-AU 14 69588986 69588986 single base substitution G A intron_variant MELA-AU 14 69588986 69588986 single base substitution G A synonymous_variant S102S 306C>T MELA-AU 14 69588986 69588986 single base substitution G A synonymous_variant S20S 60C>T MELA-AU 14 69588986 69588986 single base substitution G A upstream_gene_variant MELA-AU 14 69589031 69589031 single base substitution G A exon_variant MELA-AU 14 69589031 69589031 single base substitution G A intron_variant MELA-AU 14 69589031 69589031 single base substitution G A synonymous_variant I5I 15C>T MELA-AU 14 69589031 69589031 single base substitution G A synonymous_variant I87I 261C>T MELA-AU 14 69589031 69589031 single base substitution G A upstream_gene_variant MELA-AU 14 69589447 69589447 single base substitution G A intron_variant MELA-AU 14 69589447 69589447 single base substitution G A upstream_gene_variant MELA-AU 14 69589928 69589928 single base substitution G A intron_variant MELA-AU 14 69589931 69589931 single base substitution G A intron_variant MELA-AU 14 69591134 69591134 single base substitution A G intron_variant MELA-AU 14 69591436 69591436 single base substitution T A intron_variant MELA-AU 14 69592745 69592745 single base substitution G A intron_variant MELA-AU 14 69593743 69593743 single base substitution C T intron_variant MELA-AU 14 69594090 69594090 single base substitution G A intron_variant MELA-AU 14 69595941 69595941 single base substitution C A intron_variant MELA-AU 14 69596762 69596762 single base substitution C T intron_variant MELA-AU 14 69598732 69598732 single base substitution G A intron_variant MELA-AU 14 69598766 69598766 single base substitution G A intron_variant MELA-AU 14 69598900 69598900 single base substitution G A intron_variant MELA-AU 14 69599060 69599060 single base substitution G A intron_variant MELA-AU 14 69601098 69601098 single base substitution G A intron_variant MELA-AU 14 69601223 69601223 single base substitution G A intron_variant MELA-AU 14 69601676 69601676 single base substitution G A intron_variant MELA-AU 14 69601850 69601850 single base substitution G A intron_variant MELA-AU 14 69602592 69602592 single base substitution G A intron_variant MELA-AU 14 69603101 69603101 single base substitution A C intron_variant MELA-AU 14 69603586 69603586 single base substitution G A intron_variant MELA-AU 14 69605067 69605067 single base substitution G A intron_variant MELA-AU 14 69606032 69606032 single base substitution C T intron_variant MELA-AU 14 69606574 69606574 single base substitution G A intron_variant MELA-AU 14 69606663 69606663 single base substitution G A intron_variant MELA-AU 14 69607254 69607254 single base substitution C T intron_variant MELA-AU 14 69607341 69607341 single base substitution G A intron_variant MELA-AU 14 69607627 69607627 single base substitution G A intron_variant MELA-AU 14 69608053 69608053 single base substitution C T intron_variant MELA-AU 14 69608286 69608286 single base substitution G A intron_variant MELA-AU 14 69609218 69609218 single base substitution G A intron_variant MELA-AU 14 69609980 69609980 single base substitution C T intron_variant MELA-AU 14 69610494 69610494 single base substitution T C intron_variant MELA-AU 14 69611002 69611002 single base substitution G A intron_variant MELA-AU 14 69611644 69611644 single base substitution G T intron_variant MELA-AU 14 69611993 69611993 single base substitution C T intron_variant MELA-AU 14 69612235 69612235 single base substitution A T intron_variant MELA-AU 14 69612934 69612934 single base substitution G A intron_variant MELA-AU 14 69613493 69613493 single base substitution C T intron_variant MELA-AU 14 69614332 69614332 single base substitution C T intron_variant MELA-AU 14 69614440 69614440 single base substitution A C intron_variant MELA-AU 14 69614499 69614499 single base substitution T C intron_variant MELA-AU 14 69614501 69614501 single base substitution C G intron_variant MELA-AU 14 69615053 69615053 single base substitution G A intron_variant MELA-AU 14 69615199 69615199 single base substitution G A intron_variant MELA-AU 14 69615236 69615236 single base substitution A G intron_variant MELA-AU 14 69615361 69615361 single base substitution G A intron_variant MELA-AU 14 69615507 69615507 single base substitution C T intron_variant MELA-AU 14 69617202 69617203 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 69617751 69617751 single base substitution G A intron_variant MELA-AU 14 69618033 69618033 single base substitution T A intron_variant MELA-AU 14 69618760 69618760 single base substitution C T intron_variant MELA-AU 14 69621210 69621210 single base substitution C T upstream_gene_variant MELA-AU 14 69622230 69622230 single base substitution C T upstream_gene_variant MELA-AU 14 69622622 69622622 single base substitution T A upstream_gene_variant MELA-AU 14 69622752 69622752 single base substitution C T upstream_gene_variant MELA-AU 14 69623447 69623447 single base substitution T C upstream_gene_variant MELA-AU 14 69623547 69623547 single base substitution C T upstream_gene_variant MELA-AU 14 69623914 69623914 single base substitution G A upstream_gene_variant MELA-AU 14 69624463 69624463 single base substitution C T upstream_gene_variant ORCA-IN 14 69521566 69521566 single base substitution C T downstream_gene_variant ORCA-IN 14 69521566 69521566 single base substitution C T missense_variant D531N 1591G>A ORCA-IN 14 69521566 69521566 single base substitution C T missense_variant D612N 1834G>A ORCA-IN 14 69521566 69521566 single base substitution C T missense_variant D613N 1837G>A ORCA-IN 14 69552715 69552715 single base substitution C T downstream_gene_variant ORCA-IN 14 69552715 69552715 single base substitution C T intron_variant ORCA-IN 14 69555037 69555037 single base substitution C G downstream_gene_variant ORCA-IN 14 69555037 69555037 single base substitution C G intron_variant ORCA-IN 14 69576574 69576574 single base substitution C A intron_variant ORCA-IN 14 69579315 69579315 single base substitution C T intron_variant ORCA-IN 14 69624423 69624423 single base substitution G C upstream_gene_variant OV-AU 14 69516107 69516107 single base substitution C T downstream_gene_variant OV-AU 14 69518571 69518571 single base substitution G A 3_prime_UTR_variant OV-AU 14 69518571 69518571 single base substitution G A downstream_gene_variant OV-AU 14 69519235 69519235 single base substitution G C 3_prime_UTR_variant OV-AU 14 69519235 69519235 single base substitution G C downstream_gene_variant OV-AU 14 69521298 69521298 single base substitution G A downstream_gene_variant OV-AU 14 69521298 69521298 single base substitution G A missense_variant P620L 1859C>T OV-AU 14 69521298 69521298 single base substitution G A missense_variant P701L 2102C>T OV-AU 14 69521298 69521298 single base substitution G A missense_variant P702L 2105C>T OV-AU 14 69521754 69521754 single base substitution G T downstream_gene_variant OV-AU 14 69521754 69521754 single base substitution G T missense_variant P468Q 1403C>A OV-AU 14 69521754 69521754 single base substitution G T missense_variant P549Q 1646C>A OV-AU 14 69521754 69521754 single base substitution G T missense_variant P550Q 1649C>A OV-AU 14 69528174 69528174 single base substitution C T downstream_gene_variant OV-AU 14 69528174 69528174 single base substitution C T intron_variant OV-AU 14 69528185 69528185 single base substitution C A downstream_gene_variant OV-AU 14 69528185 69528185 single base substitution C A intron_variant OV-AU 14 69542495 69542495 single base substitution C G intron_variant OV-AU 14 69543860 69543860 single base substitution T G intron_variant OV-AU 14 69544738 69544738 single base substitution G A intron_variant OV-AU 14 69546139 69546139 single base substitution C G intron_variant OV-AU 14 69548613 69548613 single base substitution G A intron_variant OV-AU 14 69559825 69559825 single base substitution T C intron_variant OV-AU 14 69571615 69571615 single base substitution A C intron_variant OV-AU 14 69573474 69573474 single base substitution T C intron_variant OV-AU 14 69573660 69573660 single base substitution G A intron_variant OV-AU 14 69574030 69574030 single base substitution G T intron_variant OV-AU 14 69574875 69574875 single base substitution G A intron_variant OV-AU 14 69578739 69578739 single base substitution C A intron_variant OV-AU 14 69579350 69579350 single base substitution A C intron_variant OV-AU 14 69585746 69585746 single base substitution A T downstream_gene_variant OV-AU 14 69585746 69585746 single base substitution A T intron_variant OV-AU 14 69585746 69585746 single base substitution A T upstream_gene_variant OV-AU 14 69587718 69587718 single base substitution G A intron_variant OV-AU 14 69587718 69587718 single base substitution G A upstream_gene_variant OV-AU 14 69594298 69594298 single base substitution C G intron_variant OV-AU 14 69596299 69596299 single base substitution A G intron_variant OV-AU 14 69602740 69602740 single base substitution C A intron_variant OV-AU 14 69611240 69611240 single base substitution G C intron_variant OV-AU 14 69618113 69618113 single base substitution C T intron_variant OV-AU 14 69618194 69618194 single base substitution G A intron_variant OV-AU 14 69618776 69618776 single base substitution T C intron_variant OV-US 14 69521948 69521948 single base substitution G T exon_variant OV-US 14 69521948 69521948 single base substitution G T synonymous_variant P403P 1209C>A OV-US 14 69521948 69521948 single base substitution G T synonymous_variant P484P 1452C>A OV-US 14 69521948 69521948 single base substitution G T synonymous_variant P485P 1455C>A PACA-AU 14 69534938 69534938 single base substitution T C intron_variant PACA-AU 14 69535907 69535907 deletion of <=200bp A - intron_variant PACA-AU 14 69538655 69538655 single base substitution C A intron_variant PACA-AU 14 69545509 69545509 single base substitution T C intron_variant PACA-AU 14 69549288 69549288 single base substitution G A intron_variant PACA-AU 14 69558642 69558642 single base substitution G T intron_variant PACA-AU 14 69562893 69562893 single base substitution C T intron_variant PACA-AU 14 69566504 69566504 single base substitution A C intron_variant PACA-AU 14 69567614 69567614 single base substitution A C intron_variant PACA-AU 14 69579333 69579333 single base substitution C A intron_variant PACA-AU 14 69580263 69580263 single base substitution A G intron_variant PACA-AU 14 69584128 69584161 deletion of <=200bp CCAGATCCTGCCAGACAGAGCAGGCAGGATAGTA - downstream_gene_variant PACA-AU 14 69584128 69584161 deletion of <=200bp CCAGATCCTGCCAGACAGAGCAGGCAGGATAGTA - intron_variant PACA-AU 14 69587547 69587547 single base substitution T C intron_variant PACA-AU 14 69587547 69587547 single base substitution T C upstream_gene_variant PACA-AU 14 69592360 69592360 single base substitution A G intron_variant PACA-AU 14 69594901 69594901 single base substitution T C intron_variant PACA-AU 14 69596544 69596544 single base substitution G A intron_variant PACA-AU 14 69597236 69597236 single base substitution A C intron_variant PACA-AU 14 69599663 69599663 single base substitution T A intron_variant PACA-AU 14 69600459 69600459 single base substitution T G intron_variant PACA-AU 14 69604770 69604770 single base substitution C G intron_variant PACA-AU 14 69615057 69615057 single base substitution A G intron_variant PACA-AU 14 69618313 69618313 single base substitution C G intron_variant PACA-AU 14 69618316 69618316 single base substitution C A intron_variant PACA-CA 14 69513980 69513980 single base substitution A G downstream_gene_variant PACA-CA 14 69515810 69515810 single base substitution C T downstream_gene_variant PACA-CA 14 69515883 69515883 single base substitution G A downstream_gene_variant PACA-CA 14 69518573 69518573 insertion of <=200bp - T 3_prime_UTR_variant PACA-CA 14 69518573 69518573 insertion of <=200bp - T downstream_gene_variant PACA-CA 14 69522788 69522788 single base substitution C T intron_variant PACA-CA 14 69523793 69523793 single base substitution G A intron_variant PACA-CA 14 69524044 69524044 single base substitution C T intron_variant PACA-CA 14 69525289 69525289 single base substitution C T downstream_gene_variant PACA-CA 14 69525289 69525289 single base substitution C T intron_variant PACA-CA 14 69526478 69526478 insertion of <=200bp - T downstream_gene_variant PACA-CA 14 69526478 69526478 insertion of <=200bp - T intron_variant PACA-CA 14 69527616 69527616 deletion of <=200bp T - downstream_gene_variant PACA-CA 14 69527616 69527616 deletion of <=200bp T - intron_variant PACA-CA 14 69527908 69527908 single base substitution T A downstream_gene_variant PACA-CA 14 69527908 69527908 single base substitution T A intron_variant PACA-CA 14 69527924 69527924 single base substitution G C downstream_gene_variant PACA-CA 14 69527924 69527924 single base substitution G C intron_variant PACA-CA 14 69530270 69530270 single base substitution T C intron_variant PACA-CA 14 69530474 69530474 single base substitution C G intron_variant PACA-CA 14 69539183 69539183 single base substitution G C intron_variant PACA-CA 14 69541833 69541833 single base substitution A T intron_variant PACA-CA 14 69542117 69542117 single base substitution C T 3_prime_UTR_variant PACA-CA 14 69542117 69542117 single base substitution C T exon_variant PACA-CA 14 69542117 69542117 single base substitution C T synonymous_variant S215S 645G>A PACA-CA 14 69542117 69542117 single base substitution C T synonymous_variant S296S 888G>A PACA-CA 14 69542117 69542117 single base substitution C T synonymous_variant S297S 891G>A PACA-CA 14 69547528 69547528 single base substitution C T intron_variant PACA-CA 14 69548679 69548679 single base substitution G A intron_variant PACA-CA 14 69551199 69551199 single base substitution T C downstream_gene_variant PACA-CA 14 69551199 69551199 single base substitution T C intron_variant PACA-CA 14 69551208 69551208 single base substitution G A downstream_gene_variant PACA-CA 14 69551208 69551208 single base substitution G A intron_variant PACA-CA 14 69552932 69552932 single base substitution G A downstream_gene_variant PACA-CA 14 69552932 69552932 single base substitution G A intron_variant PACA-CA 14 69558593 69558593 single base substitution C T exon_variant PACA-CA 14 69558593 69558593 single base substitution C T missense_variant R143H 428G>A PACA-CA 14 69558593 69558593 single base substitution C T missense_variant R144H 431G>A PACA-CA 14 69558593 69558593 single base substitution C T missense_variant R225H 674G>A PACA-CA 14 69558593 69558593 single base substitution C T missense_variant R226H 677G>A PACA-CA 14 69560241 69560241 insertion of <=200bp - T intron_variant PACA-CA 14 69572661 69572661 insertion of <=200bp - A intron_variant PACA-CA 14 69573867 69573867 single base substitution A T intron_variant PACA-CA 14 69576696 69576696 single base substitution T C intron_variant PACA-CA 14 69578637 69578637 single base substitution C T intron_variant PACA-CA 14 69582287 69582287 insertion of <=200bp - T downstream_gene_variant PACA-CA 14 69582287 69582287 insertion of <=200bp - T intron_variant PACA-CA 14 69584754 69584754 single base substitution C T downstream_gene_variant PACA-CA 14 69584754 69584754 single base substitution C T intron_variant PACA-CA 14 69585862 69585862 single base substitution T C exon_variant PACA-CA 14 69585862 69585862 single base substitution T C intron_variant PACA-CA 14 69585862 69585862 single base substitution T C upstream_gene_variant PACA-CA 14 69588877 69588877 single base substitution C G intron_variant PACA-CA 14 69588877 69588877 single base substitution C G upstream_gene_variant PACA-CA 14 69589665 69589665 insertion of <=200bp - T intron_variant PACA-CA 14 69589665 69589665 insertion of <=200bp - T upstream_gene_variant PACA-CA 14 69599494 69599494 insertion of <=200bp - A intron_variant PACA-CA 14 69604228 69604228 single base substitution A T intron_variant PACA-CA 14 69610734 69610734 single base substitution C A intron_variant PACA-CA 14 69624342 69624342 single base substitution C T upstream_gene_variant PAEN-AU 14 69575384 69575384 single base substitution G C intron_variant PAEN-AU 14 69612368 69612368 single base substitution G C intron_variant PAEN-IT 14 69536504 69536504 single base substitution A T intron_variant PAEN-IT 14 69571142 69571142 single base substitution T C intron_variant PAEN-IT 14 69620955 69620955 single base substitution A T upstream_gene_variant PBCA-DE 14 69517986 69517986 single base substitution T C 3_prime_UTR_variant PBCA-DE 14 69517986 69517986 single base substitution T C downstream_gene_variant PBCA-DE 14 69541813 69541813 single base substitution T C intron_variant PBCA-DE 14 69546558 69546559 deletion of <=200bp AT - intron_variant PBCA-DE 14 69569309 69569310 deletion of <=200bp AC - intron_variant PBCA-DE 14 69581345 69581345 single base substitution A G downstream_gene_variant PBCA-DE 14 69581345 69581345 single base substitution A G intron_variant PBCA-DE 14 69582900 69582900 single base substitution C T downstream_gene_variant PBCA-DE 14 69582900 69582900 single base substitution C T intron_variant PBCA-DE 14 69588554 69588554 single base substitution C T intron_variant PBCA-DE 14 69588554 69588554 single base substitution C T upstream_gene_variant PBCA-DE 14 69605053 69605053 single base substitution C T intron_variant PBCA-DE 14 69608860 69608860 single base substitution T A intron_variant PBCA-DE 14 69622134 69622134 single base substitution C T upstream_gene_variant PRAD-CA 14 69521094 69521094 single base substitution G C downstream_gene_variant PRAD-CA 14 69521094 69521094 single base substitution G C missense_variant S688C 2063C>G PRAD-CA 14 69521094 69521094 single base substitution G C missense_variant S769C 2306C>G PRAD-CA 14 69521094 69521094 single base substitution G C missense_variant S770C 2309C>G PRAD-CA 14 69540123 69540123 single base substitution A T intron_variant PRAD-CA 14 69567484 69567484 single base substitution C T intron_variant PRAD-CA 14 69591918 69591918 single base substitution C G intron_variant PRAD-CA 14 69612749 69612749 single base substitution C A intron_variant PRAD-UK 14 69520306 69520306 single base substitution C T 3_prime_UTR_variant PRAD-UK 14 69520306 69520306 single base substitution C T downstream_gene_variant PRAD-UK 14 69525566 69525566 single base substitution G A downstream_gene_variant PRAD-UK 14 69525566 69525566 single base substitution G A intron_variant PRAD-UK 14 69530081 69530081 single base substitution C A intron_variant PRAD-UK 14 69556405 69556405 single base substitution G C 3_prime_UTR_variant PRAD-UK 14 69556405 69556405 single base substitution G C downstream_gene_variant PRAD-UK 14 69556405 69556405 single base substitution G C intron_variant PRAD-UK 14 69558127 69558127 deletion of <=200bp A - downstream_gene_variant PRAD-UK 14 69558127 69558127 deletion of <=200bp A - intron_variant PRAD-UK 14 69571399 69571399 single base substitution C G intron_variant PRAD-UK 14 69580560 69580567 deletion of <=200bp TAGAACCT - intron_variant PRAD-UK 14 69586185 69586185 single base substitution G A intron_variant PRAD-UK 14 69586185 69586185 single base substitution G A upstream_gene_variant PRAD-UK 14 69596915 69596915 deletion of <=200bp A - intron_variant PRAD-UK 14 69617769 69617769 single base substitution T A intron_variant PRAD-UK 14 69621119 69621119 single base substitution T A upstream_gene_variant RECA-EU 14 69512935 69512935 single base substitution T A downstream_gene_variant RECA-EU 14 69525601 69525601 single base substitution A C downstream_gene_variant RECA-EU 14 69525601 69525601 single base substitution A C intron_variant RECA-EU 14 69529057 69529057 single base substitution T A downstream_gene_variant RECA-EU 14 69529057 69529057 single base substitution T A intron_variant RECA-EU 14 69532453 69532453 single base substitution T C intron_variant RECA-EU 14 69545917 69545917 single base substitution C T intron_variant RECA-EU 14 69555922 69555922 single base substitution T A 3_prime_UTR_variant RECA-EU 14 69555922 69555922 single base substitution T A downstream_gene_variant RECA-EU 14 69555922 69555922 single base substitution T A intron_variant RECA-EU 14 69559131 69559131 single base substitution T G intron_variant RECA-EU 14 69559226 69559226 single base substitution T A intron_variant RECA-EU 14 69561089 69561089 single base substitution G A intron_variant RECA-EU 14 69567951 69567951 single base substitution T C intron_variant RECA-EU 14 69568374 69568374 single base substitution A T intron_variant RECA-EU 14 69569306 69569306 single base substitution A C intron_variant RECA-EU 14 69569308 69569308 single base substitution G C intron_variant RECA-EU 14 69572274 69572274 single base substitution A G intron_variant RECA-EU 14 69588021 69588021 single base substitution T G intron_variant RECA-EU 14 69588021 69588021 single base substitution T G upstream_gene_variant RECA-EU 14 69601803 69601803 single base substitution A G intron_variant RECA-EU 14 69602545 69602545 single base substitution T G intron_variant RECA-EU 14 69602850 69602850 single base substitution G T intron_variant RECA-EU 14 69605241 69605241 single base substitution A G intron_variant SKCA-BR 14 69515556 69515556 single base substitution C T downstream_gene_variant SKCA-BR 14 69517889 69517889 single base substitution A C 3_prime_UTR_variant SKCA-BR 14 69517889 69517889 single base substitution A C downstream_gene_variant SKCA-BR 14 69519386 69519386 single base substitution G A 3_prime_UTR_variant SKCA-BR 14 69519386 69519386 single base substitution G A downstream_gene_variant SKCA-BR 14 69522086 69522086 single base substitution A C exon_variant SKCA-BR 14 69522086 69522086 single base substitution A C missense_variant S357R 1071T>G SKCA-BR 14 69522086 69522086 single base substitution A C missense_variant S438R 1314T>G SKCA-BR 14 69522086 69522086 single base substitution A C missense_variant S439R 1317T>G SKCA-BR 14 69524064 69524064 single base substitution G A intron_variant SKCA-BR 14 69525125 69525125 single base substitution A G downstream_gene_variant SKCA-BR 14 69525125 69525125 single base substitution A G intron_variant SKCA-BR 14 69525501 69525501 single base substitution G A downstream_gene_variant SKCA-BR 14 69525501 69525501 single base substitution G A intron_variant SKCA-BR 14 69527254 69527254 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 14 69527254 69527254 insertion of <=200bp - CT intron_variant SKCA-BR 14 69532567 69532567 single base substitution G A intron_variant SKCA-BR 14 69537835 69537835 single base substitution G A intron_variant SKCA-BR 14 69540744 69540744 single base substitution G A intron_variant SKCA-BR 14 69544333 69544333 single base substitution G T intron_variant SKCA-BR 14 69544554 69544554 single base substitution G A intron_variant SKCA-BR 14 69545470 69545470 single base substitution A G intron_variant SKCA-BR 14 69546168 69546168 single base substitution G A intron_variant SKCA-BR 14 69547774 69547774 single base substitution A G intron_variant SKCA-BR 14 69547898 69547898 single base substitution C T intron_variant SKCA-BR 14 69549762 69549762 single base substitution C T intron_variant SKCA-BR 14 69553221 69553221 single base substitution G T downstream_gene_variant SKCA-BR 14 69553221 69553221 single base substitution G T intron_variant SKCA-BR 14 69553338 69553338 single base substitution A T downstream_gene_variant SKCA-BR 14 69553338 69553338 single base substitution A T intron_variant SKCA-BR 14 69553948 69553948 single base substitution T G downstream_gene_variant SKCA-BR 14 69553948 69553948 single base substitution T G intron_variant SKCA-BR 14 69566311 69566311 single base substitution T A intron_variant SKCA-BR 14 69568849 69568849 single base substitution A G intron_variant SKCA-BR 14 69569584 69569584 single base substitution T C intron_variant SKCA-BR 14 69572661 69572661 insertion of <=200bp - TATA intron_variant SKCA-BR 14 69574470 69574470 single base substitution G A intron_variant SKCA-BR 14 69574471 69574471 single base substitution G A intron_variant SKCA-BR 14 69575123 69575123 single base substitution G A intron_variant SKCA-BR 14 69575124 69575124 single base substitution T G intron_variant SKCA-BR 14 69576784 69576784 single base substitution A G intron_variant SKCA-BR 14 69577681 69577681 single base substitution C T intron_variant SKCA-BR 14 69579068 69579068 single base substitution G A intron_variant SKCA-BR 14 69580410 69580410 single base substitution G A intron_variant SKCA-BR 14 69586979 69586979 single base substitution A T intron_variant SKCA-BR 14 69586979 69586979 single base substitution A T upstream_gene_variant SKCA-BR 14 69587762 69587762 single base substitution A C intron_variant SKCA-BR 14 69587762 69587762 single base substitution A C upstream_gene_variant SKCA-BR 14 69589125 69589125 single base substitution G A intron_variant SKCA-BR 14 69589125 69589125 single base substitution G A upstream_gene_variant SKCA-BR 14 69589126 69589126 single base substitution G A intron_variant SKCA-BR 14 69589126 69589126 single base substitution G A upstream_gene_variant SKCA-BR 14 69591216 69591216 single base substitution G A intron_variant SKCA-BR 14 69592808 69592808 single base substitution A G intron_variant SKCA-BR 14 69592838 69592838 single base substitution C A intron_variant SKCA-BR 14 69596824 69596824 single base substitution A C intron_variant SKCA-BR 14 69599292 69599292 single base substitution G A intron_variant SKCA-BR 14 69602830 69602830 insertion of <=200bp - CT intron_variant SKCA-BR 14 69603388 69603388 single base substitution G A intron_variant SKCA-BR 14 69604935 69604935 single base substitution G A intron_variant SKCA-BR 14 69607340 69607340 single base substitution G A intron_variant SKCA-BR 14 69607614 69607614 single base substitution A C intron_variant SKCA-BR 14 69615627 69615627 single base substitution C T intron_variant SKCA-BR 14 69617049 69617049 single base substitution G A intron_variant SKCA-BR 14 69617439 69617439 insertion of <=200bp - CA intron_variant SKCA-BR 14 69617868 69617868 single base substitution T G intron_variant SKCA-BR 14 69617906 69617906 single base substitution G A intron_variant SKCA-BR 14 69618408 69618408 single base substitution G A intron_variant SKCA-BR 14 69618747 69618747 single base substitution A C intron_variant SKCA-BR 14 69619988 69619988 single base substitution G T upstream_gene_variant SKCA-BR 14 69620425 69620425 single base substitution T G upstream_gene_variant SKCA-BR 14 69621051 69621051 single base substitution T A upstream_gene_variant SKCA-BR 14 69623601 69623601 single base substitution G A upstream_gene_variant SKCA-BR 14 69624849 69624849 single base substitution A C upstream_gene_variant SKCM-US 14 69520769 69520769 single base substitution G A downstream_gene_variant SKCM-US 14 69520769 69520769 single base substitution G A synonymous_variant L796L 2388C>T SKCM-US 14 69520769 69520769 single base substitution G A synonymous_variant L877L 2631C>T SKCM-US 14 69520769 69520769 single base substitution G A synonymous_variant L878L 2634C>T SKCM-US 14 69521190 69521190 single base substitution G A downstream_gene_variant SKCM-US 14 69521190 69521190 single base substitution G A missense_variant P656L 1967C>T SKCM-US 14 69521190 69521190 single base substitution G A missense_variant P737L 2210C>T SKCM-US 14 69521190 69521190 single base substitution G A missense_variant P738L 2213C>T SKCM-US 14 69521269 69521269 single base substitution G A downstream_gene_variant SKCM-US 14 69521269 69521269 single base substitution G A synonymous_variant L630L 1888C>T SKCM-US 14 69521269 69521269 single base substitution G A synonymous_variant L711L 2131C>T SKCM-US 14 69521269 69521269 single base substitution G A synonymous_variant L712L 2134C>T SKCM-US 14 69521377 69521377 single base substitution T C downstream_gene_variant SKCM-US 14 69521377 69521377 single base substitution T C missense_variant N594D 1780A>G SKCM-US 14 69521377 69521377 single base substitution T C missense_variant N675D 2023A>G SKCM-US 14 69521377 69521377 single base substitution T C missense_variant N676D 2026A>G SKCM-US 14 69521511 69521511 single base substitution G A downstream_gene_variant SKCM-US 14 69521511 69521511 single base substitution G A missense_variant S549L 1646C>T SKCM-US 14 69521511 69521511 single base substitution G A missense_variant S630L 1889C>T SKCM-US 14 69521511 69521511 single base substitution G A missense_variant S631L 1892C>T SKCM-US 14 69521726 69521726 single base substitution G A downstream_gene_variant SKCM-US 14 69521726 69521726 single base substitution G A synonymous_variant S477S 1431C>T SKCM-US 14 69521726 69521726 single base substitution G A synonymous_variant S558S 1674C>T SKCM-US 14 69521726 69521726 single base substitution G A synonymous_variant S559S 1677C>T SKCM-US 14 69522018 69522018 single base substitution G A exon_variant SKCM-US 14 69522018 69522018 single base substitution G A missense_variant S380L 1139C>T SKCM-US 14 69522018 69522018 single base substitution G A missense_variant S461L 1382C>T SKCM-US 14 69522018 69522018 single base substitution G A missense_variant S462L 1385C>T SKCM-US 14 69529122 69529122 single base substitution A G downstream_gene_variant SKCM-US 14 69529122 69529122 single base substitution A G intron_variant SKCM-US 14 69529122 69529122 single base substitution A G synonymous_variant S269S 807T>C SKCM-US 14 69529122 69529122 single base substitution A G synonymous_variant S350S 1050T>C SKCM-US 14 69529122 69529122 single base substitution A G synonymous_variant S351S 1053T>C SKCM-US 14 69558597 69558597 single base substitution G A exon_variant SKCM-US 14 69558597 69558597 single base substitution G A synonymous_variant L142L 424C>T SKCM-US 14 69558597 69558597 single base substitution G A synonymous_variant L143L 427C>T SKCM-US 14 69558597 69558597 single base substitution G A synonymous_variant L224L 670C>T SKCM-US 14 69558597 69558597 single base substitution G A synonymous_variant L225L 673C>T STAD-US 14 69520750 69520750 single base substitution C T downstream_gene_variant STAD-US 14 69520750 69520750 single base substitution C T missense_variant G803R 2407G>A STAD-US 14 69520750 69520750 single base substitution C T missense_variant G884R 2650G>A STAD-US 14 69520750 69520750 single base substitution C T missense_variant G885R 2653G>A STAD-US 14 69521511 69521511 single base substitution G A downstream_gene_variant STAD-US 14 69521511 69521511 single base substitution G A missense_variant S549L 1646C>T STAD-US 14 69521511 69521511 single base substitution G A missense_variant S630L 1889C>T STAD-US 14 69521511 69521511 single base substitution G A missense_variant S631L 1892C>T STAD-US 14 69521638 69521638 single base substitution G A downstream_gene_variant STAD-US 14 69521638 69521638 single base substitution G A missense_variant R507C 1519C>T STAD-US 14 69521638 69521638 single base substitution G A missense_variant R588C 1762C>T STAD-US 14 69521638 69521638 single base substitution G A missense_variant R589C 1765C>T STAD-US 14 69521943 69521943 single base substitution C A exon_variant STAD-US 14 69521943 69521943 single base substitution C A missense_variant R405L 1214G>T STAD-US 14 69521943 69521943 single base substitution C A missense_variant R486L 1457G>T STAD-US 14 69521943 69521943 single base substitution C A missense_variant R487L 1460G>T STAD-US 14 69521952 69521952 single base substitution C A exon_variant STAD-US 14 69521952 69521952 single base substitution C A missense_variant G402V 1205G>T STAD-US 14 69521952 69521952 single base substitution C A missense_variant G483V 1448G>T STAD-US 14 69521952 69521952 single base substitution C A missense_variant G484V 1451G>T STAD-US 14 69521972 69521972 single base substitution G A exon_variant STAD-US 14 69521972 69521972 single base substitution G A synonymous_variant A395A 1185C>T STAD-US 14 69521972 69521972 single base substitution G A synonymous_variant A476A 1428C>T STAD-US 14 69521972 69521972 single base substitution G A synonymous_variant A477A 1431C>T STAD-US 14 69522046 69522046 single base substitution G A exon_variant STAD-US 14 69522046 69522046 single base substitution G A missense_variant R371C 1111C>T STAD-US 14 69522046 69522046 single base substitution G A missense_variant R452C 1354C>T STAD-US 14 69522046 69522046 single base substitution G A missense_variant R453C 1357C>T STAD-US 14 69584873 69584873 single base substitution C T downstream_gene_variant STAD-US 14 69584873 69584873 single base substitution C T exon_variant STAD-US 14 69584873 69584873 single base substitution C T missense_variant R172Q 515G>A STAD-US 14 69584873 69584873 single base substitution C T missense_variant R173Q 518G>A STAD-US 14 69584873 69584873 single base substitution C T missense_variant R90Q 269G>A STAD-US 14 69584873 69584873 single base substitution C T missense_variant R91Q 272G>A STAD-US 14 69588976 69588976 deletion of <=200bp A - exon_variant STAD-US 14 69588976 69588976 deletion of <=200bp A - frameshift_variant C106 STAD-US 14 69588976 69588976 deletion of <=200bp A - frameshift_variant C24 STAD-US 14 69588976 69588976 deletion of <=200bp A - intron_variant STAD-US 14 69588976 69588976 deletion of <=200bp A - upstream_gene_variant THCA-SA 14 69521345 69521345 single base substitution G A downstream_gene_variant THCA-SA 14 69521345 69521345 single base substitution G A synonymous_variant T604T 1812C>T THCA-SA 14 69521345 69521345 single base substitution G A synonymous_variant T685T 2055C>T THCA-SA 14 69521345 69521345 single base substitution G A synonymous_variant T686T 2058C>T THCA-US 14 69522320 69522320 single base substitution G A exon_variant THCA-US 14 69522320 69522320 single base substitution G A synonymous_variant S279S 837C>T THCA-US 14 69522320 69522320 single base substitution G A synonymous_variant S360S 1080C>T THCA-US 14 69522320 69522320 single base substitution G A synonymous_variant S361S 1083C>T UCEC-US 14 69520589 69520589 single base substitution C A downstream_gene_variant UCEC-US 14 69520589 69520589 single base substitution C A missense_variant K856N 2568G>T UCEC-US 14 69520589 69520589 single base substitution C A missense_variant K937N 2811G>T UCEC-US 14 69520589 69520589 single base substitution C A missense_variant K938N 2814G>T UCEC-US 14 69520861 69520861 single base substitution C T downstream_gene_variant UCEC-US 14 69520861 69520861 single base substitution C T missense_variant G766R 2296G>A UCEC-US 14 69520861 69520861 single base substitution C T missense_variant G847R 2539G>A UCEC-US 14 69520861 69520861 single base substitution C T missense_variant G848R 2542G>A UCEC-US 14 69521431 69521431 single base substitution G A downstream_gene_variant UCEC-US 14 69521431 69521431 single base substitution G A stop_gained R576* 1726C>T UCEC-US 14 69521431 69521431 single base substitution G A stop_gained R657* 1969C>T UCEC-US 14 69521431 69521431 single base substitution G A stop_gained R658* 1972C>T UCEC-US 14 69521610 69521610 single base substitution T G downstream_gene_variant UCEC-US 14 69521610 69521610 single base substitution T G missense_variant K516T 1547A>C UCEC-US 14 69521610 69521610 single base substitution T G missense_variant K597T 1790A>C UCEC-US 14 69521610 69521610 single base substitution T G missense_variant K598T 1793A>C UCEC-US 14 69521835 69521835 single base substitution C T downstream_gene_variant UCEC-US 14 69521835 69521835 single base substitution C T missense_variant R441H 1322G>A UCEC-US 14 69521835 69521835 single base substitution C T missense_variant R522H 1565G>A UCEC-US 14 69521835 69521835 single base substitution C T missense_variant R523H 1568G>A UCEC-US 14 69521877 69521877 single base substitution C T downstream_gene_variant UCEC-US 14 69521877 69521877 single base substitution C T missense_variant R427H 1280G>A UCEC-US 14 69521877 69521877 single base substitution C T missense_variant R508H 1523G>A UCEC-US 14 69521877 69521877 single base substitution C T missense_variant R509H 1526G>A UCEC-US 14 69521897 69521897 single base substitution C T downstream_gene_variant UCEC-US 14 69521897 69521897 single base substitution C T synonymous_variant T420T 1260G>A UCEC-US 14 69521897 69521897 single base substitution C T synonymous_variant T501T 1503G>A UCEC-US 14 69521897 69521897 single base substitution C T synonymous_variant T502T 1506G>A UCEC-US 14 69522122 69522122 single base substitution G A exon_variant UCEC-US 14 69522122 69522122 single base substitution G A synonymous_variant I345I 1035C>T UCEC-US 14 69522122 69522122 single base substitution G A synonymous_variant I426I 1278C>T UCEC-US 14 69522122 69522122 single base substitution G A synonymous_variant I427I 1281C>T UCEC-US 14 69558513 69558513 single base substitution G A 3_prime_UTR_variant UCEC-US 14 69558513 69558513 single base substitution G A exon_variant UCEC-US 14 69558513 69558513 single base substitution G A stop_gained R170* 508C>T UCEC-US 14 69558513 69558513 single base substitution G A stop_gained R171* 511C>T UCEC-US 14 69558513 69558513 single base substitution G A stop_gained R252* 754C>T UCEC-US 14 69558513 69558513 single base substitution G A stop_gained R253* 757C>T UCEC-US 14 69584934 69584934 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 14 69584934 69584934 single base substitution C T downstream_gene_variant UCEC-US 14 69584934 69584934 single base substitution C T missense_variant V152M 454G>A UCEC-US 14 69584934 69584934 single base substitution C T missense_variant V153M 457G>A UCEC-US 14 69584934 69584934 single base substitution C T missense_variant V70M 208G>A UCEC-US 14 69584934 69584934 single base substitution C T missense_variant V71M 211G>A UCEC-US 14 69584934 69584934 single base substitution C T upstream_gene_variant UCEC-US 14 69588992 69588992 single base substitution G A exon_variant UCEC-US 14 69588992 69588992 single base substitution G A intron_variant UCEC-US 14 69588992 69588992 single base substitution G A synonymous_variant H100H 300C>T UCEC-US 14 69588992 69588992 single base substitution G A synonymous_variant H18H 54C>T UCEC-US 14 69588992 69588992 single base substitution G A upstream_gene_variant UCEC-US 14 69619497 69619497 single base substitution G T exon_variant UCEC-US 14 69619497 69619497 single base substitution G T intron_variant UCEC-US 14 69619497 69619497 single base substitution G T missense_variant Q67K 199C>A UCEC-US 14 69619497 69619497 single base substitution G T upstream_gene_variant UCEC-US 14 69619523 69619523 single base substitution G A exon_variant UCEC-US 14 69619523 69619523 single base substitution G A intron_variant UCEC-US 14 69619523 69619523 single base substitution G A missense_variant A58V 173C>T UCEC-US 14 69619523 69619523 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PTC-14C COSM4148203 c.2720C>A p.T907K Substitution - Missense 14:69053966-69053966 - ESO-0129 COSM1249743 c.1605G>C p.E535D Substitution - Missense 14:69055081-69055081 - 2492721 COSM5722219 c.1329C>T p.I443I Substitution - coding silent 14:69055357-69055357 - 2492722 COSM5722219 c.1329C>T p.I443I Substitution - coding silent 14:69055357-69055357 - 4_RESISTANT COSM1723935 c.1254C>T p.F418F Substitution - coding silent 14:69055432-69055432 - 4_PRE-TREATMENT COSM1723935 c.1254C>T p.F418F Substitution - coding silent 14:69055432-69055432 - T578 COSM4676376 c.1018C>A p.R340R Substitution - coding silent 14:69062440-69062440 - TCGA-AY-6197-01 COSM1370754 c.2768G>A p.R923Q Substitution - Missense 14:69053918-69053918 - PT09_2 COSM2135396 c.1892C>T p.S631L Substitution - Missense 14:69054794-69054794 - Pat_24_A COSM5848412 c.1762C>T p.R588W Substitution - Missense 14:69054924-69054924 - H358 COSM1194045 c.1124G>A p.R375Q Substitution - Missense 14:69055562-69055562 - 2492728 COSM5725554 c.2222C>T p.P741L Substitution - Missense 14:69054464-69054464 - M14 COSM1678082 c.671T>G p.L224R Substitution - Missense 14:69091882-69091882 - CSCC-44-T COSM4500500 c.567C>T p.A189A Substitution - coding silent 14:69116464-69116464 - TCGA-D1-A17Q-01 COSM957271 c.2814G>T p.K938N Substitution - Missense 14:69053872-69053872 - TCGA-CM-4746-01 COSM3690291 c.676C>T p.R226C Substitution - Missense 14:69091877-69091877 - TCGA-D7-A4YV-01 COSM4052003 c.2653G>A p.G885R Substitution - Missense 14:69054033-69054033 - BN34 COSM1607889 c.218G>T p.G73V Substitution - Missense 14:69122357-69122357 - PTC-14C COSM4148204 c.2102A>C p.N701T Substitution - Missense 14:69054584-69054584 - CHC892T COSM4960443 c.1451G>A p.G484E Substitution - Missense 14:69055235-69055235 - YUWIA COSM5382548 c.1546C>T p.L516L Substitution - coding silent 14:69055140-69055140 - TCGA-CK-5913-01 COSM1370758 c.1140C>T p.S380S Substitution - coding silent 14:69055546-69055546 - TCGA-D1-A17Q-01 COSM957274 c.1793A>C p.K598T Substitution - Missense 14:69054893-69054893 - CN-AML-09-T COSM5426271 c.444G>T p.L148F Substitution - Missense 14:69118230-69118230 - 2492729 COSM5725554 c.2222C>T p.P741L Substitution - Missense 14:69054464-69054464 - TCGA-JW-A5VL-01 COSM4847380 c.2203G>C p.E735Q Substitution - Missense 14:69054483-69054483 - TCGA-24-2019-01 COSM117122 c.2460T>A p.S820R Substitution - Missense 14:69054226-69054226 - T3187 COSM4676375 c.1196G>A p.G399D Substitution - Missense 14:69055490-69055490 - pfg043T COSM4756975 c.1856A>G p.Q619R Substitution - Missense 14:69054830-69054830 - Pat_32_B COSM5848413 c.226C>T p.R76C Substitution - Missense 14:69122349-69122349 - TCGA-A5-A0GH-01 COSM957272 c.2542G>A p.G848R Substitution - Missense 14:69054144-69054144 - 2492730 COSM5728763 c.1192A>T p.S398C Substitution - Missense 14:69055494-69055494 - 68 COSM1293522 c.1385C>T p.S462L Substitution - Missense 14:69055301-69055301 - CSCC-27-T COSM4480066 c.2384C>T p.P795L Substitution - Missense 14:69054302-69054302 - T3503 COSM4676378 c.946G>T p.G316C Substitution - Missense 14:69075345-69075345 - TCGA-D1-A16Y-01 COSM957281 c.300C>T p.H100H Substitution - coding silent 14:69122275-69122275 - LP6005935-DNA_F01 COSM4879793 c.2355G>C p.L785L Substitution - coding silent 14:69054331-69054331 - TCGA-22-1002-01 COSM698855 c.1100G>T p.G367V Substitution - Missense 14:69055586-69055586 - CHEWS001 COSM4530083 c.1666G>A p.E556K Substitution - Missense 14:69055020-69055020 - S02344 COSM5693406 c.2569G>A p.V857M Substitution - Missense 14:69054117-69054117 - ESCC_BICR_070T COSM4530083 c.1666G>A p.E556K Substitution - Missense 14:69055020-69055020 - NYU1363 COSM4771086 c.801T>C p.P267P Substitution - coding silent 14:69091752-69091752 - LUAD-RT-S01831 COSM384292 c.2191G>A p.D731N Substitution - Missense 14:69054495-69054495 - CSCC-27-T COSM4466014 c.1411C>T p.P471S Substitution - Missense 14:69055275-69055275 - XHDG38 COSM4769870 c.1722G>A p.L574L Substitution - coding silent 14:69054964-69054964 - ACINAR29 COSM1735214 c.880-1G>A p.? Unknown 14:69075412-69075412 - TCGA-EE-A29E-06 COSM3497336 c.1677C>T p.S559S Substitution - coding silent 14:69055009-69055009 - HN_62421 COSM128691 c.316_317insT p.C106fs*10 Insertion - Frameshift 14:69122258-69122259 - ACINAR11 COSM1735213 c.1535G>A p.R512H Substitution - Missense 14:69055151-69055151 - SM-4AX85 COSM3765764 c.2058C>T p.T686T Substitution - coding silent 14:69054628-69054628 - TCGA-EE-A20C-06 COSM3497332 c.2634C>T p.L878L Substitution - coding silent 14:69054052-69054052 - CSCC-30-T COSM2135414 c.1116C>T p.L372L Substitution - coding silent 14:69055570-69055570 - ESCC_74 COSM5634705 c.294A>G p.G98G Substitution - coding silent 14:69122281-69122281 - PT33 COSM5909364 c.791C>T p.S264F Substitution - Missense 14:69091762-69091762 - TCGA-AX-A0J1-01 COSM957276 c.1526G>A p.R509H Substitution - Missense 14:69055160-69055160 - TCGA-A8-A07R-01 COSM3815176 c.2660A>G p.E887G Substitution - Missense 14:69054026-69054026 - TCGA-A8-A0A6-01 COSM3815178 c.962T>G p.V321G Substitution - Missense 14:69062496-69062496 - TCGA-AA-3833-01 COSM271195 c.2149G>A p.A717T Substitution - Missense 14:69054537-69054537 - TCGA-60-2725-01 COSM698856 c.1526G>T p.R509L Substitution - Missense 14:69055160-69055160 - T207 COSM4676379 c.841A>G p.T281A Substitution - Missense 14:69091712-69091712 - TCGA-EE-A2ML-06 COSM3497334 c.2134C>T p.L712L Substitution - coding silent 14:69054552-69054552 - TCGA-AA-3955-01 COSM297039 c.2373G>A p.E791E Substitution - coding silent 14:69054313-69054313 - VACO4S COSM4657139 c.2445C>T p.T815T Substitution - coding silent 14:69054241-69054241 - 9227_T COSM5041924 c.946+1G>A p.? Unknown 14:69075344-69075344 - 40M COSM5584976 c.526C>T p.P176S Substitution - Missense 14:69118148-69118148 - PDA_109 COSM5004001 c.2038G>T p.G680* Substitution - Nonsense 14:69054648-69054648 - PGBM20PT COSM1579841 c.227G>A p.R76H Substitution - Missense 14:69122348-69122348 - TCGA-BR-A4QL-01 COSM4052006 c.1451G>T p.G484V Substitution - Missense 14:69055235-69055235 - TCGA-BR-4368-01 COSM2135396 c.1892C>T p.S631L Substitution - Missense 14:69054794-69054794 - 41T COSM3711609 c.1837G>A p.D613N Substitution - Missense 14:69054849-69054849 - TCGA-B6-A401-01 COSM4391303 c.1914C>T p.S638S Substitution - coding silent 14:69054772-69054772 - TCGA-ET-A39O-01 COSM3370032 c.1083C>T p.S361S Substitution - coding silent 14:69055603-69055603 - 2492727 COSM5725554 c.2222C>T p.P741L Substitution - Missense 14:69054464-69054464 - HCA46 COSM4629329 c.1586A>G p.N529S Substitution - Missense 14:69055100-69055100 - OSCC-GB_00410111 COSM3711609 c.1837G>A p.D613N Substitution - Missense 14:69054849-69054849 - TCGA-D3-A3C7-06 COSM1293522 c.1385C>T p.S462L Substitution - Missense 14:69055301-69055301 - RK033_C01 COSM1629379 c.653G>T p.R218L Substitution - Missense 14:69116378-69116378 - PTC-7C COSM3765764 c.2058C>T p.T686T Substitution - coding silent 14:69054628-69054628 - TCGA-CG-5726-01 COSM4052007 c.1431C>T p.A477A Substitution - coding silent 14:69055255-69055255 - TCGA-AA-3514-01 COSM291504 c.2790T>C p.D930D Substitution - coding silent 14:69053896-69053896 - TCGA-10-0930-01 COSM81076 c.1455C>A p.P485P Substitution - coding silent 14:69055231-69055231 - S00539 COSM316518 c.107G>A p.R36K Substitution - Missense 14:69152872-69152872 - TCGA-G4-6320-01 COSM3690166 c.1019G>A p.R340Q Substitution - Missense 14:69062439-69062439 - TCGA-AP-A0LM-01 COSM957273 c.1972C>T p.R658* Substitution - Nonsense 14:69054714-69054714 - TCGA-BR-4184-01 COSM4052004 c.1765C>T p.R589C Substitution - Missense 14:69054921-69054921 - S00022 COSM316517 c.1468A>G p.T490A Substitution - Missense 14:69055218-69055218 - TCGA-EE-A3AB-06 COSM3497335 c.2026A>G p.N676D Substitution - Missense 14:69054660-69054660 - LUAD-RT-S01831 COSM384293 c.11G>A p.R4K Substitution - Missense 14:69152968-69152968 - TCGA-DD-A4NF-01 COSM4912668 c.1249G>T p.A417S Substitution - Missense 14:69055437-69055437 - CSCC-6-T COSM4521689 c.1125G>A p.R375R Substitution - coding silent 14:69055561-69055561 - CSCC-57-T COSM4535287 c.2176G>A p.E726K Substitution - Missense 14:69054510-69054510 - 3765_T COSM3956173 c.400G>C p.E134Q Substitution - Missense 14:69118274-69118274 - TCGA-B0-5116-01 COSM470169 c.247A>G p.M83V Substitution - Missense 14:69122328-69122328 - TCGA-BC-A112-01 COSM4936541 c.467A>G p.N156S Substitution - Missense 14:69118207-69118207 - Gp5D COSM2135394 c.2012A>G p.Y671C Substitution - Missense 14:69054674-69054674 - TCGA-33-4583-01 COSM698854 c.968A>G p.N323S Substitution - Missense 14:69062490-69062490 - TCGA-AA-A010-01 COSM280306 c.2362C>T p.R788W Substitution - Missense 14:69054324-69054324 - 394 COSM3721413 c.802G>A p.V268M Substitution - Missense 14:69091751-69091751 - TCGA-EE-A2GJ-06 COSM2135396 c.1892C>T p.S631L Substitution - Missense 14:69054794-69054794 - T578 COSM4676373 c.2646T>C p.D882D Substitution - coding silent 14:69054040-69054040 - SW48 COSM2135404 c.1531C>T p.Q511* Substitution - Nonsense 14:69055155-69055155 - T3024 COSM4676374 c.2226C>A p.S742R Substitution - Missense 14:69054460-69054460 - TCGA-D9-A6EC-06 COSM4401030 c.1053T>C p.S351S Substitution - coding silent 14:69062405-69062405 - TCGA-CM-6675-01 COSM1370757 c.1698C>A p.S566R Substitution - Missense 14:69054988-69054988 - TCGA-CJ-4634-01 COSM3361216 c.2428G>A p.G810S Substitution - Missense 14:69054258-69054258 - TCGA-AP-A0LT-01 COSM957279 c.757C>T p.R253* Substitution - Nonsense 14:69091796-69091796 - TCGA-DS-A1OD-01 COSM1293522 c.1385C>T p.S462L Substitution - Missense 14:69055301-69055301 - TCGA-AX-A0J1-01 COSM957277 c.1506G>A p.T502T Substitution - coding silent 14:69055180-69055180 - pfg068T COSM4756976 c.1594G>A p.D532N Substitution - Missense 14:69055092-69055092 - TCGA-66-2756-01 COSM698852 c.448G>T p.V150L Substitution - Missense 14:69118226-69118226 - TCGA-D1-A167-01 COSM957283 c.173C>T p.A58V Substitution - Missense 14:69152806-69152806 - TCGA-CA-6717-01 COSM1370756 c.2030A>G p.N677S Substitution - Missense 14:69054656-69054656 - BN34T COSM1607889 c.218G>T p.G73V Substitution - Missense 14:69122357-69122357 - TCGA-EK-A2RJ-01 COSM4832062 c.1378G>C p.E460Q Substitution - Missense 14:69055308-69055308 - 587222 COSM1203068 c.1049C>A p.S350Y Substitution - Missense 14:69062409-69062409 - PTC-28C COSM5446215 c.200_201insT p.Q67fs*9 Insertion - Frameshift 14:69152778-69152779 - T3118 COSM4676377 c.970G>T p.G324* Substitution - Nonsense 14:69062488-69062488 - CSCC-35-T COSM4476945 c.2109C>T p.A703A Substitution - coding silent 14:69054577-69054577 - C91 COSM2135425 c.793C>T p.R265C Substitution - Missense 14:69091760-69091760 - MO_1221 COSM5552138 c.1135G>A p.D379N Substitution - Missense 14:69055551-69055551 - 2492723 COSM5722219 c.1329C>T p.I443I Substitution - coding silent 14:69055357-69055357 - TCGA-FW-A3R5-06 COSM3886264 c.673C>T p.L225L Substitution - coding silent 14:69091880-69091880 - CN-AML-NR-09-Dx COSM5426271 c.444G>T p.L148F Substitution - Missense 14:69118230-69118230 - 45 COSM5734267 c.1805C>T p.P602L Substitution - Missense 14:69054881-69054881 - CHC322T COSM3765764 c.2058C>T p.T686T Substitution - coding silent 14:69054628-69054628 - pfg143T COSM4747430 c.316delT p.C106fs*45 Deletion - Frameshift 14:69122259-69122259 - TCGA-HU-A4G8-01 COSM4052005 c.1460G>T p.R487L Substitution - Missense 14:69055226-69055226 - SNU-175 COSM2135426 c.761G>A p.R254H Substitution - Missense 14:69091792-69091792 - PD18024a COSM5777245 c.2519G>C p.R840P Substitution - Missense 14:69054167-69054167 - HCC2998 COSM1678081 c.2510T>C p.L837S Substitution - Missense 14:69054176-69054176 - HT115 COSM2135397 c.1804C>T p.P602S Substitution - Missense 14:69054882-69054882 - ESO-859 COSM1238644 c.1750C>T p.R584W Substitution - Missense 14:69054936-69054936 - TCGA-66-2778-01 COSM698857 c.1927C>T p.Q643* Substitution - Nonsense 14:69054759-69054759 - Br04X COSM39347 c.104G>A p.R35K Substitution - Missense 14:69152875-69152875 - CSCC-56-T COSM4482524 c.2618C>T p.S873F Substitution - Missense 14:69054068-69054068 - TCGA-85-6561-01 COSM698851 c.367G>T p.E123* Substitution - Nonsense 14:69119222-69119222 - 1604875 COSM141437 c.2743G>T p.G915C Substitution - Missense 14:69053943-69053943 - TCGA-MH-A562-01 COSM3987759 c.2086A>G p.T696A Substitution - Missense 14:69054600-69054600 - SNU-175 COSM2135436 c.198C>T p.G66G Substitution - coding silent 14:69152781-69152781 - 2492720 COSM5722219 c.1329C>T p.I443I Substitution - coding silent 14:69055357-69055357 - sysucc-311T COSM5478737 c.871C>T p.R291C Substitution - Missense 14:69091682-69091682 - ESCC_157 COSM5646243 c.150C>T p.L50L Substitution - coding silent 14:69152829-69152829 - CSCC-27-T COSM4496844 c.483C>T p.S161S Substitution - coding silent 14:69118191-69118191 - TCGA-A6-5665-01 COSM1370755 c.2468G>T p.R823M Substitution - Missense 14:69054218-69054218 - TCGA-BR-8361-01 COSM4052009 c.518G>A p.R173Q Substitution - Missense 14:69118156-69118156 - T3090 COSM4676380 c.644G>A p.W215* Substitution - Nonsense 14:69116387-69116387 - TCGA-G2-A2ES-01 COSM1300784 c.2321C>A p.P774H Substitution - Missense 14:69054365-69054365 - T3080 COSM4676381 c.151G>A p.G51S Substitution - Missense 14:69152828-69152828 - TCGA-HJ-7597-01 COSM4052008 c.1357C>T p.R453C Substitution - Missense 14:69055329-69055329 - CSCC-38-T COSM4530083 c.1666G>A p.E556K Substitution - Missense 14:69055020-69055020 - CPCG0392-F1 COSM4880763 c.2309C>G p.S770C Substitution - Missense 14:69054377-69054377 - TCGA-AX-A0J1-01 COSM957280 c.457G>A p.V153M Substitution - Missense 14:69118217-69118217 - TCGA-BH-A0HF-01 COSM3815177 c.2488G>A p.A830T Substitution - Missense 14:69054198-69054198 - TCGA-76-6280-01 COSM3401432 c.2732G>A p.R911K Substitution - Missense 14:69053954-69053954 - TCGA-DM-A28G-01 COSM1370759 c.497G>A p.R166Q Substitution - Missense 14:69118177-69118177 - ESCC_BICR_055T COSM5436629 c.100C>G p.Q34E Substitution - Missense 14:69152879-69152879 - CSCC-29-T COSM4476995 c.2111C>T p.P704L Substitution - Missense 14:69054575-69054575 - PT09_1 COSM2135396 c.1892C>T p.S631L Substitution - Missense 14:69054794-69054794 - S00539 COSM316518 c.107G>A p.R36K Substitution - Missense 14:69152872-69152872 - AOCS-147-1-1 COSM3983660 c.1649C>A p.P550Q Substitution - Missense 14:69055037-69055037 - HCC2998 COSM1678081 c.2510T>C p.L837S Substitution - Missense 14:69054176-69054176 - TCGA-AP-A051-01 COSM957282 c.199C>A p.Q67K Substitution - Missense 14:69152780-69152780 - TCGA-QA-A7B7-01 COSM4909948 c.2568G>A p.V856V Substitution - coding silent 14:69054118-69054118 - TCGA-DA-A3F8-06 COSM3497333 c.2213C>T p.P738L Substitution - Missense 14:69054473-69054473 - 587238 COSM1203067 c.2272C>T p.P758S Substitution - Missense 14:69054414-69054414 - C089 COSM5542819 c.524C>T p.S175F Substitution - Missense 14:69118150-69118150 - PCSI_0002_Pa_X COSM3377445 c.891G>A p.S297S Substitution - coding silent 14:69075400-69075400 - AOCS-090-1-0 COSM3983659 c.2105C>T p.P702L Substitution - Missense 14:69054581-69054581 - BD72T COSM5513049 c.217G>T p.G73* Substitution - Nonsense 14:69122358-69122358 - 090T COSM1731254 c.1271G>T p.R424L Substitution - Missense 14:69055415-69055415 - TCGA-AX-A0J1-01 COSM957275 c.1568G>A p.R523H Substitution - Missense 14:69055118-69055118 - CSCC-29-T COSM4567815 c.885_886CC>TT p.L296F Substitution - Missense 14:69075405-69075406 - CHC892T COSM4960443 c.1451G>A p.G484E Substitution - Missense 14:69055235-69055235 - CSCC-10-T COSM4469296 c.1592C>T p.S531F Substitution - Missense 14:69055094-69055094 - TCGA-AX-A0J1-01 COSM957278 c.1281C>T p.I427I Substitution - coding silent 14:69055405-69055405 - CSCC-44-T COSM4467677 c.1502C>T p.P501L Substitution - Missense 14:69055184-69055184 - ESO-721 COSM1249745 c.2064G>T p.E688D Substitution - Missense 14:69054622-69054622 - 61 COSM5740147 c.1979T>A p.I660N Substitution - Missense 14:69054707-69054707 - ESO-2472 COSM1249744 c.1483G>T p.A495S Substitution - Missense 14:69055203-69055203 - 2492730 COSM5725554 c.2222C>T p.P741L Substitution - Missense 14:69054464-69054464 - TCGA-33-4532-01 COSM698853 c.680A>G p.Y227C Substitution - Missense 14:69091873-69091873 - PD13426a COSM5779994 c.1387G>A p.A463T Substitution - Missense 14:69055299-69055299 - S00022 COSM316517 c.1468A>G p.T490A Substitution - Missense 14:69055218-69055218 - I2L-P24Tb-Tumor-Organoid COSM5362342 c.1794delG p.K598fs*43 Deletion - Frameshift 14:69054892-69054892 - TCGA-B6-A0RO-01 COSM433290 c.2741A>T p.H914L Substitution - Missense 14:69053945-69053945 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.509780 14q23-q24.1 603812

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C 3-UTRSNV . c.2826+1098T>G 14 69519479 HC A G IntronicSNV . c.215-8787T>C 14 69597864 PIA A G Synonymous p.D930D c.2790T>C 14 69520613 COREAD A T Missense p.S820R c.2460T>A 14 69520943 OV C A Missense p.A495S c.1483G>T 14 69521920 ESCA C A Missense p.E688D c.2064G>T 14 69521339 ESCA C A Missense p.G367V c.1100G>T 14 69522303 LUSC C A Missense p.R218L c.653G>T 14 69583095 HC C A Missense p.R509L c.1526G>T 14 69521877 LUSC C A Missense p.R517L c.1550G>T 14 69521853 LUAD C A Missense p.R551L c.1652G>T 14 69521751 LUAD C A Missense p.V150L c.448G>T 14 69584943 LUSC C A Nonsense p.E123* c.367G>T 14 69585939 LUSC C A Synonymous p.S297S c.891G>T 14 69542117 CM C G IntronicSNV . c.880-8044G>C 14 69550172 CM C G Missense p.E535D c.1605G>C 14 69521798 ESCA C G Missense p.G324R c.970G>C 14 69529205 HNSC C T Missense p.E887K c.2659G>A 14 69520744 HNSC C T Missense p.G810S c.2428G>A 14 69520975 RCCC C T Missense p.G848R c.2542G>A 14 69520861 UCEC C T Missense p.R36K c.107G>A 14 69619589 SCLC C T Missense p.R911K c.2732G>A 14 69520671 GBM C T Synonymous p.E791E c.2373G>A 14 69521030 COREAD C T Synonymous p.R814R c.2442G>A 14 69520961 LUAD G A IntronicSNV . c.879+7394C>T 14 69550997 CM G A IntronicSNV . c.879+8068C>T 14 69550323 CM G A IntronicSNV . c.880-8074C>T 14 69550202 CM G A Missense p.P738L c.2213C>T 14 69521190 CM G A Missense p.R584W c.1750C>T 14 69521653 ESCA G A Missense p.S462L c.1385C>T 14 69522018 CM G A Missense p.S631L c.1892C>T 14 69521511 CM G A Missense p.S631L c.1892C>T 14 69521511 STAD G A Missense p.T369I c.1106C>T 14 69522297 CM G A Nonsense p.Q510* c.1528C>T 14 69521875 CM G A Nonsense p.Q643* c.1927C>T 14 69521476 LUSC G A Nonsense p.R253* c.757C>T 14 69558513 UCEC G A Synonymous p.A477A c.1431C>T 14 69521972 STAD G A Synonymous p.A710A c.2130C>T 14 69521273 CM G A Synonymous p.H100H c.300C>T 14 69588992 UCEC G A Synonymous p.I357I c.1071C>T 14 69529104 LUAD G A Synonymous p.L712L c.2134C>T 14 69521269 CM G A Synonymous p.L878L c.2634C>T 14 69520769 CM G A Synonymous p.R37R c.111C>T 14 69619585 BRCA G A Synonymous p.S361S c.1083C>T 14 69522320 THCA GT AA Missense p.Y456F c.1367_1368delinsTT 14 69522035 CM GT AC Missense p.T867V c.2599_2600delinsGT 14 69520803 CM G T Missense p.P774H c.2321C>A 14 69521082 BLCA G T Missense p.S89Y c.266C>A 14 69589026 STAD G T Synonymous p.P485P c.1455C>A 14 69521948 OV T A Missense p.H914L c.2741A>T 14 69520662 BRCA T A Synonymous p.T929T c.2787A>T 14 69520616 LUAD T C 3-UTRSNV . c.2826+2591A>G 14 69517986 MB T C IntronicSNV . c.879+1224A>G 14 69557167 HC T C IntronicSNV . c.879+6296A>G 14 69552095 HC T C Missense p.M83V c.247A>G 14 69589045 RCCC T C Missense p.N323S c.968A>G 14 69529207 LUSC T C Missense p.N676D c.2026A>G 14 69521377 CM T C Missense p.T490A c.1468A>G 14 69521935 SCLC T C Missense p.Y227C c.680A>G 14 69558590 LUSC T C Missense p.Y294C c.881A>G 14 69542127 HNSC T G Missense p.K699Q c.2095A>C 14 69521308 LUAD