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 19 33623141 33623141 + Silent SNP C C T TCGA-FD-A3N6-01A-11D-A21A-08 TCGA-FD-A3N6-10A-01D-A21A-08 g.chr19:33623141C>T c.66C>T c.(64-66)tcC>tcT p.S22S BLCA 19 33642136 33642136 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 g.chr19:33642136G>C c.729G>C c.(727-729)caG>caC p.Q243H BLCA 19 33663289 33663289 + Silent SNP T T C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 g.chr19:33663289T>C c.1185T>C c.(1183-1185)atT>atC p.I395I BLCA 19 33666477 33666477 + Silent SNP G G A TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr19:33666477G>A c.1418G>A c.(1417-1419)tGa>tAa p.*473* BRCA 19 33655137 33655137 + Missense_Mutation SNP G G A TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr19:33655137G>A c.1115G>A c.(1114-1116)aGc>aAc p.S372N COAD 19 33623191 33623191 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr19:33623191C>T c.116C>T c.(115-117)gCg>gTg p.A39V COAD 19 33628609 33628609 + Silent SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr19:33628609C>T c.303C>T c.(301-303)caC>caT p.H101H COAD 19 33639752 33639752 + Silent SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr19:33639752C>T c.615C>T c.(613-615)ttC>ttT p.F205F COAD 19 33639753 33639753 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr19:33639753G>A c.616G>A c.(616-618)Gac>Aac p.D206N COAD 19 33639807 33639807 + Missense_Mutation SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr19:33639807G>A c.670G>A c.(670-672)Gtc>Atc p.V224I COAD 19 33651333 33651333 + Missense_Mutation SNP T T G TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr19:33651333T>G c.1011T>G c.(1009-1011)atT>atG p.I337M COAD 19 33651349 33651349 + Missense_Mutation SNP A A G TCGA-AA-3655-01A-02D-1719-10 TCGA-AA-3655-11A-01D-1719-10 g.chr19:33651349A>G c.1027A>G c.(1027-1029)Agg>Ggg p.R343G COAD 19 33651349 33651349 + Missense_Mutation SNP A A G TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chr19:33651349A>G c.1027A>G c.(1027-1029)Agg>Ggg p.R343G COAD 19 33663284 33663284 + Nonsense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr19:33663284G>T c.1180G>T c.(1180-1182)Gaa>Taa p.E394* COAD 19 33666304 33666304 + Silent SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr19:33666304C>T c.1245C>T c.(1243-1245)tgC>tgT p.C415C COAD 19 33666317 33666317 + Missense_Mutation SNP A A G TCGA-AA-3696-01A-01W-0900-09 TCGA-AA-3696-10A-01W-0900-09 g.chr19:33666317A>G c.1258A>G c.(1258-1260)Agg>Ggg p.R420G COAD 19 33666371 33666371 + Missense_Mutation SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr19:33666371G>A c.1312G>A c.(1312-1314)Gtg>Atg p.V438M COADREAD 19 33623191 33623191 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr19:33623191C>T c.116C>T c.(115-117)gCg>gTg p.A39V COADREAD 19 33628609 33628609 + Silent SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr19:33628609C>T c.303C>T c.(301-303)caC>caT p.H101H COADREAD 19 33639704 33639704 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr19:33639704C>T c.567C>T c.(565-567)atC>atT p.I189I COADREAD 19 33639752 33639752 + Silent SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr19:33639752C>T c.615C>T c.(613-615)ttC>ttT p.F205F COADREAD 19 33639753 33639753 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr19:33639753G>A c.616G>A c.(616-618)Gac>Aac p.D206N COADREAD 19 33639806 33639806 + Silent SNP C C T TCGA-AG-4007-01A-01W-1073-09 TCGA-AG-4007-10A-01W-1073-09 g.chr19:33639806C>T c.669C>T c.(667-669)tcC>tcT p.S223S COADREAD 19 33639807 33639807 + Missense_Mutation SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr19:33639807G>A c.670G>A c.(670-672)Gtc>Atc p.V224I COADREAD 19 33651333 33651333 + Missense_Mutation SNP T T G TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr19:33651333T>G c.1011T>G c.(1009-1011)atT>atG p.I337M COADREAD 19 33651349 33651349 + Missense_Mutation SNP A A G TCGA-AA-3655-01A-02D-1719-10 TCGA-AA-3655-11A-01D-1719-10 g.chr19:33651349A>G c.1027A>G c.(1027-1029)Agg>Ggg p.R343G COADREAD 19 33651349 33651349 + Missense_Mutation SNP A A G TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chr19:33651349A>G c.1027A>G c.(1027-1029)Agg>Ggg p.R343G COADREAD 19 33651349 33651349 + Missense_Mutation SNP A A T TCGA-AF-6655-01A-11D-1826-10 TCGA-AF-6655-10A-01D-1826-10 g.chr19:33651349A>T c.1027A>T c.(1027-1029)Agg>Tgg p.R343W COADREAD 19 33663284 33663284 + Nonsense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr19:33663284G>T c.1180G>T c.(1180-1182)Gaa>Taa p.E394* COADREAD 19 33666304 33666304 + Silent SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr19:33666304C>T c.1245C>T c.(1243-1245)tgC>tgT p.C415C COADREAD 19 33666317 33666317 + Missense_Mutation SNP A A G TCGA-AA-3696-01A-01W-0900-09 TCGA-AA-3696-10A-01W-0900-09 g.chr19:33666317A>G c.1258A>G c.(1258-1260)Agg>Ggg p.R420G COADREAD 19 33666371 33666371 + Missense_Mutation SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr19:33666371G>A c.1312G>A c.(1312-1314)Gtg>Atg p.V438M DLBC 19 33642122 33642122 + Missense_Mutation SNP G G T TCGA-RQ-A68N-01A-11D-A31X-10 TCGA-RQ-A68N-10A-01D-A31X-10 g.chr19:33642122G>T c.715G>T c.(715-717)Gac>Tac p.D239Y DLBC 19 33666345 33666345 + Missense_Mutation SNP C C A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr19:33666345C>A c.1286C>A c.(1285-1287)aCc>aAc p.T429N ESCA 19 33623177 33623177 + Silent SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr19:33623177C>A c.102C>A c.(100-102)tcC>tcA p.S34S ESCA 19 33628669 33628671 + In_Frame_Del DEL CTA CTA - TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 g.chr19:33628669_33628671delCTA c.363_365delCTA c.(361-366)tcctat>tct p.Y122del ESCA 19 33628674 33628674 + Missense_Mutation SNP A A T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 g.chr19:33628674A>T c.368A>T c.(367-369)gAc>gTc p.D123V GBM 19 33651345 33651345 + Missense_Mutation SNP T T A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 g.chr19:33651345T>A c.1023T>A c.(1021-1023)ttT>ttA p.F341L GBM 19 33666419 33666421 + In_Frame_Del DEL TCA TCA - TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 g.chr19:33666419_33666421delTCA c.1360_1362delTCA c.(1360-1362)tcadel p.S458del GBMLGG 19 33651345 33651345 + Missense_Mutation SNP T T A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 g.chr19:33651345T>A c.1023T>A c.(1021-1023)ttT>ttA p.F341L GBMLGG 19 33666397 33666397 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:33666397C>T c.1338C>T c.(1336-1338)ggC>ggT p.G446G GBMLGG 19 33666419 33666421 + In_Frame_Del DEL TCA TCA - TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 g.chr19:33666419_33666421delTCA c.1360_1362delTCA c.(1360-1362)tcadel p.S458del HNSC 19 33623312 33623312 + Silent SNP G G A TCGA-CV-7425-01A-11D-2078-08 TCGA-CV-7425-10A-01D-2078-08 g.chr19:33623312G>A c.237G>A c.(235-237)ccG>ccA p.P79P HNSC 19 33623337 33623337 + Missense_Mutation SNP G G A TCGA-UF-A71D-01A-12D-A34J-08 TCGA-UF-A71D-10B-01D-A34M-08 g.chr19:33623337G>A c.262G>A c.(262-264)Gac>Aac p.D88N HNSC 19 33647373 33647373 + Nonsense_Mutation SNP C C T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 g.chr19:33647373C>T c.922C>T c.(922-924)Cga>Tga p.R308* HNSC 19 33651385 33651385 + Missense_Mutation SNP C C T TCGA-T2-A6WZ-01A-21D-A34J-08 TCGA-T2-A6WZ-10B-01D-A34M-08 g.chr19:33651385C>T c.1063C>T c.(1063-1065)Cgg>Tgg p.R355W HNSC 19 33666381 33666381 + Missense_Mutation SNP G G A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 g.chr19:33666381G>A c.1322G>A c.(1321-1323)cGg>cAg p.R441Q KICH 19 33666433 33666433 + Silent SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr19:33666433G>A c.1374G>A c.(1372-1374)tcG>tcA p.S458S KIPAN 19 33666433 33666433 + Silent SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr19:33666433G>A c.1374G>A c.(1372-1374)tcG>tcA p.S458S LGG 19 33666397 33666397 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:33666397C>T c.1338C>T c.(1336-1338)ggC>ggT p.G446G LIHC 19 33623281 33623281 + Missense_Mutation SNP C C T TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr19:33623281C>T c.206C>T c.(205-207)cCg>cTg p.P69L LIHC 19 33647326 33647326 + Missense_Mutation SNP C C A TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr19:33647326C>A c.875C>A c.(874-876)tCc>tAc p.S292Y LIHC 19 33647426 33647426 + Silent SNP T T C TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr19:33647426T>C c.975T>C c.(973-975)agT>agC p.S325S LIHC 19 33655144 33655144 + Missense_Mutation SNP C C A TCGA-DD-AAD6-01A-11D-A40R-10 TCGA-DD-AAD6-10A-01D-A40U-10 g.chr19:33655144C>A c.1122C>A c.(1120-1122)aaC>aaA p.N374K LUAD 19 33623269 33623269 + Missense_Mutation SNP G G A TCGA-55-8302-01A-11D-2323-08 TCGA-55-8302-10A-01D-2323-08 g.chr19:33623269G>A c.194G>A c.(193-195)aGg>aAg p.R65K LUAD 19 33623311 33623311 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 g.chr19:33623311C>A c.236C>A c.(235-237)cCg>cAg p.P79Q LUAD 19 33628603 33628603 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr19:33628603T>A c.297T>A c.(295-297)agT>agA p.S99R LUAD 19 33628604 33628604 + Missense_Mutation SNP G G T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr19:33628604G>T c.298G>T c.(298-300)Ggg>Tgg p.G100W LUAD 19 33635774 33635774 + Missense_Mutation SNP C C A TCGA-86-8585-01A-11D-2393-08 TCGA-86-8585-10A-01D-2393-08 g.chr19:33635774C>A c.412C>A c.(412-414)Cgc>Agc p.R138S LUAD 19 33639745 33639745 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr19:33639745C>T c.608C>T c.(607-609)tCa>tTa p.S203L LUAD 19 33639782 33639782 + Silent SNP C C T TCGA-73-4677-01A-01D-1265-08 TCGA-73-4677-11A-01D-1265-08 g.chr19:33639782C>T c.645C>T c.(643-645)gaC>gaT p.D215D LUAD 19 33639806 33639806 + Silent SNP C C T TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 g.chr19:33639806C>T c.669C>T c.(667-669)tcC>tcT p.S223S LUAD 19 33647391 33647391 + Missense_Mutation SNP G G T TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr19:33647391G>T c.940G>T c.(940-942)Gtg>Ttg p.V314L LUSC 19 33623155 33623155 + Missense_Mutation SNP A A T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr19:33623155A>T c.80A>T c.(79-81)gAg>gTg p.E27V LUSC 19 33628589 33628589 + Missense_Mutation SNP T T C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 g.chr19:33628589T>C c.283T>C c.(283-285)Ttt>Ctt p.F95L LUSC 19 33628618 33628618 + Silent SNP T T A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 g.chr19:33628618T>A c.312T>A c.(310-312)gcT>gcA p.A104A LUSC 19 33639783 33639783 + Missense_Mutation SNP G G C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 g.chr19:33639783G>C c.646G>C c.(646-648)Gcc>Ccc p.A216P LUSC 19 33642152 33642152 + Missense_Mutation SNP T T G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 g.chr19:33642152T>G c.745T>G c.(745-747)Tca>Gca p.S249A LUSC 19 33663274 33663274 + Missense_Mutation SNP G G C TCGA-66-2768-01A-01D-1522-08 TCGA-66-2768-11A-01D-1522-08 g.chr19:33663274G>C c.1170G>C c.(1168-1170)tgG>tgC p.W390C OV 19 33628661 33628661 + Missense_Mutation SNP A A T TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 g.chr19:33628661A>T c.355A>T c.(355-357)Agt>Tgt p.S119C PAAD 19 33623225 33623225 + Silent SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 g.chr19:33623225G>A c.150G>A c.(148-150)ccG>ccA p.P50P PAAD 19 33647385 33647385 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:33647385G>T c.934G>T c.(934-936)Gcc>Tcc p.A312S PAAD 19 33666419 33666421 + In_Frame_Del DEL TCA TCA - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 g.chr19:33666419_33666421delTCA c.1360_1362delTCA c.(1360-1362)tcadel p.S458del PRAD 19 33623274 33623274 + Missense_Mutation SNP C C T TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 g.chr19:33623274C>T c.199C>T c.(199-201)Cca>Tca p.P67S READ 19 33639704 33639704 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr19:33639704C>T c.567C>T c.(565-567)atC>atT p.I189I READ 19 33639806 33639806 + Silent SNP C C T TCGA-AG-4007-01A-01W-1073-09 TCGA-AG-4007-10A-01W-1073-09 g.chr19:33639806C>T c.669C>T c.(667-669)tcC>tcT p.S223S READ 19 33651349 33651349 + Missense_Mutation SNP A A T TCGA-AF-6655-01A-11D-1826-10 TCGA-AF-6655-10A-01D-1826-10 g.chr19:33651349A>T c.1027A>T c.(1027-1029)Agg>Tgg p.R343W SKCM 19 33623137 33623137 + Missense_Mutation SNP C C T TCGA-EE-A29P-06A-11D-A197-08 TCGA-EE-A29P-10A-01D-A199-08 g.chr19:33623137C>T c.62C>T c.(61-63)cCc>cTc p.P21L SKCM 19 33623141 33623141 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:33623141C>T c.66C>T c.(64-66)tcC>tcT p.S22S SKCM 19 33623218 33623218 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr19:33623218C>T c.143C>T c.(142-144)tCg>tTg p.S48L SKCM 19 33623254 33623254 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 g.chr19:33623254C>T c.179C>T c.(178-180)cCc>cTc p.P60L SKCM 19 33623339 33623339 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:33623339C>T c.264C>T c.(262-264)gaC>gaT p.D88D SKCM 19 33623343 33623343 + Missense_Mutation SNP C C T TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr19:33623343C>T c.268C>T c.(268-270)Ctc>Ttc p.L90F SKCM 19 33638555 33638555 + Missense_Mutation SNP A A G TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr19:33638555A>G c.481A>G c.(481-483)Att>Gtt p.I161V SKCM 19 33638591 33638591 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr19:33638591G>A c.517G>A c.(517-519)Gac>Aac p.D173N SKCM 19 33639704 33639704 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr19:33639704C>T c.567C>T c.(565-567)atC>atT p.I189I SKCM 19 33639710 33639710 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr19:33639710C>T c.573C>T c.(571-573)tcC>tcT p.S191S SKCM 19 33639752 33639752 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:33639752C>T c.615C>T c.(613-615)ttC>ttT p.F205F SKCM 19 33647270 33647270 + Silent SNP C C T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 g.chr19:33647270C>T c.819C>T c.(817-819)tcC>tcT p.S273S SKCM 19 33647373 33647373 + Nonsense_Mutation SNP C C T TCGA-D3-A3C8-06A-12D-A19A-08 TCGA-D3-A3C8-10A-01D-A19A-08 g.chr19:33647373C>T c.922C>T c.(922-924)Cga>Tga p.R308* SKCM 19 33666309 33666309 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr19:33666309G>A c.1250G>A c.(1249-1251)aGa>aAa p.R417K

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 19 33663289 33663289 single base substitution T C synonymous_variant I395I 1185T>C BRCA-EU 19 33618442 33618443 deletion of <=200bp AG - upstream_gene_variant BRCA-EU 19 33619032 33619032 single base substitution G A upstream_gene_variant BRCA-EU 19 33620875 33620875 single base substitution G C upstream_gene_variant BRCA-EU 19 33622122 33622122 single base substitution T C upstream_gene_variant BRCA-EU 19 33624142 33624142 single base substitution G A intron_variant BRCA-EU 19 33624430 33624430 single base substitution A T intron_variant BRCA-EU 19 33624687 33624687 single base substitution C T intron_variant BRCA-EU 19 33626632 33626632 single base substitution C T intron_variant BRCA-EU 19 33628475 33628475 deletion of <=200bp T - intron_variant BRCA-EU 19 33629370 33629370 single base substitution C T intron_variant BRCA-EU 19 33629738 33629738 single base substitution G A intron_variant BRCA-EU 19 33630720 33630721 deletion of <=200bp AC - intron_variant BRCA-EU 19 33630957 33630957 single base substitution C A intron_variant BRCA-EU 19 33631018 33631018 single base substitution G A intron_variant BRCA-EU 19 33631466 33631466 single base substitution C T intron_variant BRCA-EU 19 33631920 33631920 single base substitution G A intron_variant BRCA-EU 19 33632726 33632726 single base substitution A G intron_variant BRCA-EU 19 33633371 33633371 single base substitution G A intron_variant BRCA-EU 19 33633708 33633708 single base substitution T A intron_variant BRCA-EU 19 33636832 33636832 single base substitution C T intron_variant BRCA-EU 19 33636880 33636880 single base substitution G C intron_variant BRCA-EU 19 33638116 33638116 single base substitution G A intron_variant BRCA-EU 19 33638652 33638652 single base substitution C T intron_variant BRCA-EU 19 33639669 33639669 single base substitution T A intron_variant BRCA-EU 19 33642211 33642211 single base substitution C A downstream_gene_variant BRCA-EU 19 33642211 33642211 single base substitution C A synonymous_variant I268I 804C>A BRCA-EU 19 33643622 33643622 single base substitution T C downstream_gene_variant BRCA-EU 19 33643622 33643622 single base substitution T C intron_variant BRCA-EU 19 33643652 33643652 single base substitution C T downstream_gene_variant BRCA-EU 19 33643652 33643652 single base substitution C T intron_variant BRCA-EU 19 33644002 33644002 single base substitution G A downstream_gene_variant BRCA-EU 19 33644002 33644002 single base substitution G A intron_variant BRCA-EU 19 33644073 33644073 single base substitution C T downstream_gene_variant BRCA-EU 19 33644073 33644073 single base substitution C T intron_variant BRCA-EU 19 33645549 33645549 single base substitution G A intron_variant BRCA-EU 19 33645835 33645835 single base substitution A C intron_variant BRCA-EU 19 33646970 33646970 single base substitution T C intron_variant BRCA-EU 19 33649811 33649811 single base substitution G T intron_variant BRCA-EU 19 33650233 33650233 single base substitution T C intron_variant BRCA-EU 19 33651335 33651335 single base substitution C T missense_variant S338F 1013C>T BRCA-EU 19 33651471 33651471 single base substitution G T intron_variant BRCA-EU 19 33652358 33652358 single base substitution T A intron_variant BRCA-EU 19 33653102 33653102 insertion of <=200bp - T intron_variant BRCA-EU 19 33653555 33653555 single base substitution A C intron_variant BRCA-EU 19 33654443 33654443 insertion of <=200bp - A intron_variant BRCA-EU 19 33654749 33654749 single base substitution G A intron_variant BRCA-EU 19 33654760 33654760 single base substitution A C intron_variant BRCA-EU 19 33655215 33655215 single base substitution T G intron_variant BRCA-EU 19 33656054 33656054 single base substitution C A intron_variant BRCA-EU 19 33657587 33657587 single base substitution G A intron_variant BRCA-EU 19 33657986 33657986 single base substitution T C intron_variant BRCA-EU 19 33658043 33658043 single base substitution C G intron_variant BRCA-EU 19 33659168 33659168 single base substitution G A intron_variant BRCA-EU 19 33661889 33661891 deletion of <=200bp TAT - intron_variant BRCA-EU 19 33662863 33662863 single base substitution G C intron_variant BRCA-EU 19 33664857 33664857 single base substitution A C intron_variant BRCA-EU 19 33664964 33664964 single base substitution G T intron_variant BRCA-EU 19 33668084 33668084 single base substitution C T downstream_gene_variant BRCA-EU 19 33668086 33668086 single base substitution C T downstream_gene_variant BRCA-EU 19 33668334 33668334 single base substitution G A downstream_gene_variant BRCA-EU 19 33669232 33669232 single base substitution A C downstream_gene_variant BRCA-EU 19 33670130 33670130 single base substitution C T downstream_gene_variant BRCA-EU 19 33670354 33670354 single base substitution T C downstream_gene_variant BRCA-EU 19 33670581 33670581 single base substitution G T downstream_gene_variant BRCA-EU 19 33671236 33671236 single base substitution T G downstream_gene_variant BRCA-FR 19 33621486 33621486 single base substitution C T upstream_gene_variant BRCA-FR 19 33629370 33629370 single base substitution C T intron_variant BRCA-FR 19 33631018 33631018 single base substitution G A intron_variant BRCA-FR 19 33638652 33638652 single base substitution C T intron_variant BRCA-FR 19 33651335 33651335 single base substitution C T missense_variant S338F 1013C>T BRCA-FR 19 33658202 33658202 single base substitution G C intron_variant BRCA-FR 19 33669232 33669232 single base substitution A C downstream_gene_variant BRCA-FR 19 33670581 33670581 single base substitution G T downstream_gene_variant BRCA-KR 19 33647278 33647278 single base substitution T A missense_variant I276N 827T>A BRCA-UK 19 33637459 33637459 single base substitution C T intron_variant BRCA-US 19 33655137 33655137 single base substitution G A missense_variant S372N 1115G>A BTCA-JP 19 33628610 33628610 single base substitution G A missense_variant E102K 304G>A BTCA-JP 19 33635755 33635755 single base substitution G A synonymous_variant P131P 393G>A BTCA-JP 19 33642144 33642144 single base substitution C T downstream_gene_variant BTCA-JP 19 33642144 33642144 single base substitution C T missense_variant A246V 737C>T BTCA-JP 19 33665035 33665035 single base substitution G C intron_variant CLLE-ES 19 33630328 33630328 single base substitution A G intron_variant COAD-US 19 33628609 33628609 single base substitution C T synonymous_variant H101H 303C>T COAD-US 19 33635761 33635761 single base substitution C T synonymous_variant D133D 399C>T COAD-US 19 33639753 33639753 single base substitution G A downstream_gene_variant COAD-US 19 33639753 33639753 single base substitution G A missense_variant D206N 616G>A COAD-US 19 33639807 33639807 single base substitution G A downstream_gene_variant COAD-US 19 33639807 33639807 single base substitution G A missense_variant V224I 670G>A COAD-US 19 33647379 33647379 single base substitution T C missense_variant C310R 928T>C COAD-US 19 33651333 33651333 single base substitution T G missense_variant I337M 1011T>G COAD-US 19 33663284 33663284 single base substitution G T stop_gained E394* 1180G>T COAD-US 19 33666371 33666371 single base substitution G A 3_prime_UTR_variant COAD-US 19 33666371 33666371 single base substitution G A missense_variant V438M 1312G>A COCA-CN 19 33639785 33639785 single base substitution C T downstream_gene_variant COCA-CN 19 33639785 33639785 single base substitution C T synonymous_variant A216A 648C>T COCA-CN 19 33664997 33664997 single base substitution A T intron_variant COCA-CN 19 33665010 33665010 single base substitution A G intron_variant COCA-CN 19 33666450 33666450 single base substitution C T 3_prime_UTR_variant COCA-CN 19 33666450 33666450 single base substitution C T missense_variant P464L 1391C>T EOPC-DE 19 33653696 33653696 single base substitution G C intron_variant EOPC-DE 19 33668012 33668012 single base substitution C T downstream_gene_variant ESAD-UK 19 33619283 33619283 single base substitution C T upstream_gene_variant ESAD-UK 19 33620464 33620464 single base substitution G A upstream_gene_variant ESAD-UK 19 33621383 33621383 single base substitution G A upstream_gene_variant ESAD-UK 19 33621396 33621396 single base substitution A C upstream_gene_variant ESAD-UK 19 33622032 33622032 single base substitution C T upstream_gene_variant ESAD-UK 19 33623749 33623749 single base substitution G A intron_variant ESAD-UK 19 33623842 33623842 single base substitution G A intron_variant ESAD-UK 19 33625170 33625170 single base substitution C T intron_variant ESAD-UK 19 33627883 33627883 single base substitution C T intron_variant ESAD-UK 19 33629082 33629082 single base substitution T G intron_variant ESAD-UK 19 33629947 33629947 single base substitution C G intron_variant ESAD-UK 19 33630660 33630660 single base substitution C A intron_variant ESAD-UK 19 33631295 33631295 single base substitution G T intron_variant ESAD-UK 19 33632311 33632311 insertion of <=200bp - T intron_variant ESAD-UK 19 33633173 33633173 single base substitution G T intron_variant ESAD-UK 19 33634634 33634634 single base substitution A G intron_variant ESAD-UK 19 33634725 33634725 single base substitution C G intron_variant ESAD-UK 19 33634981 33634981 single base substitution T G intron_variant ESAD-UK 19 33636814 33636814 insertion of <=200bp - T intron_variant ESAD-UK 19 33636968 33636968 single base substitution G A intron_variant ESAD-UK 19 33642196 33642196 single base substitution C T downstream_gene_variant ESAD-UK 19 33642196 33642196 single base substitution C T synonymous_variant A263A 789C>T ESAD-UK 19 33643937 33643937 single base substitution A G downstream_gene_variant ESAD-UK 19 33643937 33643937 single base substitution A G intron_variant ESAD-UK 19 33643938 33643938 single base substitution G T downstream_gene_variant ESAD-UK 19 33643938 33643938 single base substitution G T intron_variant ESAD-UK 19 33645574 33645574 single base substitution G A intron_variant ESAD-UK 19 33646064 33646064 single base substitution T C intron_variant ESAD-UK 19 33648851 33648851 single base substitution T A intron_variant ESAD-UK 19 33649393 33649393 single base substitution G A intron_variant ESAD-UK 19 33650007 33650007 single base substitution C T intron_variant ESAD-UK 19 33650287 33650287 insertion of <=200bp - AATG intron_variant ESAD-UK 19 33650796 33650796 single base substitution G C intron_variant ESAD-UK 19 33651237 33651237 single base substitution C T intron_variant ESAD-UK 19 33652054 33652054 single base substitution G A intron_variant ESAD-UK 19 33653285 33653285 single base substitution T A intron_variant ESAD-UK 19 33654802 33654802 single base substitution A T intron_variant ESAD-UK 19 33655041 33655041 deletion of <=200bp T - intron_variant ESAD-UK 19 33655291 33655291 single base substitution C T intron_variant ESAD-UK 19 33655317 33655317 single base substitution T G intron_variant ESAD-UK 19 33656794 33656794 single base substitution C T intron_variant ESAD-UK 19 33657320 33657320 single base substitution A C intron_variant ESAD-UK 19 33657394 33657394 single base substitution T G intron_variant ESAD-UK 19 33658172 33658172 single base substitution C T intron_variant ESAD-UK 19 33658205 33658205 deletion of <=200bp A - intron_variant ESAD-UK 19 33658692 33658695 deletion of <=200bp TCTT - intron_variant ESAD-UK 19 33660533 33660533 single base substitution C T intron_variant ESAD-UK 19 33661495 33661495 single base substitution G A intron_variant ESAD-UK 19 33662843 33662843 single base substitution C T intron_variant ESAD-UK 19 33663854 33663854 single base substitution C T intron_variant ESAD-UK 19 33664193 33664193 single base substitution G A intron_variant ESAD-UK 19 33668173 33668173 single base substitution G C downstream_gene_variant ESAD-UK 19 33668979 33668979 single base substitution C T downstream_gene_variant ESAD-UK 19 33670570 33670570 insertion of <=200bp - G downstream_gene_variant ESAD-UK 19 33670575 33670575 single base substitution G T downstream_gene_variant ESAD-UK 19 33670687 33670687 single base substitution T C downstream_gene_variant ESAD-UK 19 33670693 33670693 single base substitution T C downstream_gene_variant ESCA-CN 19 33623413 33623413 single base substitution C T intron_variant ESCA-CN 19 33666304 33666304 single base substitution C T splice_region_variant GBM-US 19 33651345 33651345 single base substitution T A missense_variant F341L 1023T>A GBM-US 19 33666419 33666421 deletion of <=200bp TCA - 3_prime_UTR_variant GBM-US 19 33666419 33666421 deletion of <=200bp TCA - inframe_deletion S454 KIRC-US 19 33663257 33663257 single base substitution A T missense_variant R385W 1153A>T LAML-KR 19 33635853 33635853 single base substitution G A intron_variant LAML-KR 19 33669738 33669738 single base substitution A G downstream_gene_variant LAML-KR 19 33669745 33669745 single base substitution G C downstream_gene_variant LICA-FR 19 33660116 33660116 single base substitution T C intron_variant LICA-FR 19 33669350 33669350 insertion of <=200bp - TATTTATT downstream_gene_variant LINC-JP 19 33620708 33620708 single base substitution G A upstream_gene_variant LINC-JP 19 33638185 33638185 single base substitution G A intron_variant LIRI-JP 19 33618829 33618829 single base substitution G A upstream_gene_variant LIRI-JP 19 33618903 33618903 single base substitution T A upstream_gene_variant LIRI-JP 19 33631345 33631345 single base substitution C T intron_variant LIRI-JP 19 33635262 33635262 single base substitution C A intron_variant LIRI-JP 19 33635827 33635827 single base substitution C T synonymous_variant G155G 465C>T LIRI-JP 19 33637607 33637607 single base substitution A T intron_variant LIRI-JP 19 33637668 33637668 single base substitution C T intron_variant LIRI-JP 19 33641765 33641765 single base substitution T C downstream_gene_variant LIRI-JP 19 33641765 33641765 single base substitution T C intron_variant LIRI-JP 19 33646726 33646726 single base substitution T C intron_variant LIRI-JP 19 33654542 33654542 single base substitution C A intron_variant LIRI-JP 19 33657233 33657233 single base substitution C T intron_variant LIRI-JP 19 33658540 33658540 single base substitution C A intron_variant LIRI-JP 19 33659184 33659184 single base substitution G A intron_variant LIRI-JP 19 33659276 33659276 single base substitution A G intron_variant LIRI-JP 19 33662023 33662023 single base substitution C T intron_variant LIRI-JP 19 33668055 33668055 single base substitution C G downstream_gene_variant LIRI-JP 19 33668951 33668951 single base substitution A T downstream_gene_variant LIRI-JP 19 33669155 33669155 single base substitution C A downstream_gene_variant LIRI-JP 19 33669533 33669533 single base substitution C A downstream_gene_variant LIRI-JP 19 33671444 33671444 single base substitution A G downstream_gene_variant LUSC-KR 19 33621348 33621348 single base substitution G T upstream_gene_variant LUSC-KR 19 33621790 33621790 single base substitution A G upstream_gene_variant LUSC-KR 19 33630559 33630559 single base substitution G C intron_variant LUSC-KR 19 33638166 33638166 single base substitution G A intron_variant LUSC-KR 19 33638539 33638539 single base substitution T A intron_variant LUSC-KR 19 33638641 33638641 single base substitution T C intron_variant LUSC-KR 19 33640481 33640481 single base substitution C G downstream_gene_variant LUSC-KR 19 33640481 33640481 single base substitution C G intron_variant LUSC-KR 19 33645695 33645695 single base substitution C A intron_variant LUSC-KR 19 33647408 33647408 single base substitution C T synonymous_variant G319G 957C>T LUSC-KR 19 33650533 33650533 single base substitution G C intron_variant LUSC-KR 19 33653126 33653126 single base substitution G C intron_variant LUSC-KR 19 33655158 33655158 single base substitution T C missense_variant L379P 1136T>C LUSC-KR 19 33655257 33655257 single base substitution G C intron_variant LUSC-KR 19 33655338 33655338 single base substitution C T intron_variant LUSC-KR 19 33656656 33656656 single base substitution G A intron_variant LUSC-KR 19 33657272 33657272 single base substitution G C intron_variant LUSC-KR 19 33668710 33668710 single base substitution G T downstream_gene_variant LUSC-US 19 33623155 33623155 single base substitution A T missense_variant E27V 80A>T LUSC-US 19 33628589 33628589 single base substitution T C missense_variant F95L 283T>C LUSC-US 19 33628618 33628618 single base substitution T A synonymous_variant A104A 312T>A LUSC-US 19 33639783 33639783 single base substitution G C downstream_gene_variant LUSC-US 19 33639783 33639783 single base substitution G C missense_variant A216P 646G>C LUSC-US 19 33642152 33642152 single base substitution T G downstream_gene_variant LUSC-US 19 33642152 33642152 single base substitution T G missense_variant S249A 745T>G LUSC-US 19 33663274 33663274 single base substitution G C missense_variant W390C 1170G>C MALY-DE 19 33621457 33621457 single base substitution C T upstream_gene_variant MALY-DE 19 33630499 33630499 single base substitution G T intron_variant MALY-DE 19 33630720 33630721 deletion of <=200bp AC - intron_variant MALY-DE 19 33635828 33635828 single base substitution G A missense_variant D156N 466G>A MALY-DE 19 33636614 33636614 single base substitution T A intron_variant MALY-DE 19 33638228 33638228 single base substitution G T intron_variant MALY-DE 19 33643141 33643142 deletion of <=200bp AT - downstream_gene_variant MALY-DE 19 33643141 33643142 deletion of <=200bp AT - intron_variant MALY-DE 19 33649733 33649733 single base substitution G C intron_variant MALY-DE 19 33653101 33653101 single base substitution G A intron_variant MALY-DE 19 33655499 33655499 single base substitution A C intron_variant MALY-DE 19 33669191 33669191 single base substitution G C downstream_gene_variant MALY-DE 19 33670258 33670258 single base substitution T C downstream_gene_variant MALY-DE 19 33670353 33670353 single base substitution C G downstream_gene_variant MALY-DE 19 33670360 33670360 single base substitution T C downstream_gene_variant MALY-DE 19 33670519 33670519 single base substitution A G downstream_gene_variant MALY-DE 19 33670539 33670539 single base substitution A G downstream_gene_variant MALY-DE 19 33670641 33670641 single base substitution A G downstream_gene_variant MELA-AU 19 33618351 33618351 single base substitution G A upstream_gene_variant MELA-AU 19 33618460 33618460 single base substitution C T upstream_gene_variant MELA-AU 19 33618603 33618603 single base substitution G A upstream_gene_variant MELA-AU 19 33618605 33618605 single base substitution A C upstream_gene_variant MELA-AU 19 33619984 33619984 single base substitution C T upstream_gene_variant MELA-AU 19 33620536 33620536 single base substitution C T upstream_gene_variant MELA-AU 19 33620589 33620589 single base substitution C T upstream_gene_variant MELA-AU 19 33620733 33620733 single base substitution C T upstream_gene_variant MELA-AU 19 33620734 33620734 single base substitution C T upstream_gene_variant MELA-AU 19 33621929 33621929 single base substitution G A upstream_gene_variant MELA-AU 19 33622293 33622293 single base substitution C T upstream_gene_variant MELA-AU 19 33622302 33622302 single base substitution C T upstream_gene_variant MELA-AU 19 33622369 33622369 single base substitution T C upstream_gene_variant MELA-AU 19 33622799 33622799 single base substitution A G upstream_gene_variant MELA-AU 19 33623103 33623103 single base substitution A G missense_variant T10A 28A>G MELA-AU 19 33623172 33623172 single base substitution C T synonymous_variant L33L 97C>T MELA-AU 19 33623351 33623351 single base substitution G A splice_region_variant MELA-AU 19 33623819 33623819 single base substitution C T intron_variant MELA-AU 19 33624539 33624539 single base substitution C T intron_variant MELA-AU 19 33624644 33624644 single base substitution C T intron_variant MELA-AU 19 33625090 33625090 single base substitution C T intron_variant MELA-AU 19 33625351 33625351 single base substitution G A intron_variant MELA-AU 19 33625444 33625444 single base substitution G T intron_variant MELA-AU 19 33625550 33625550 single base substitution G A intron_variant MELA-AU 19 33626359 33626359 single base substitution C T intron_variant MELA-AU 19 33626428 33626428 single base substitution G A intron_variant MELA-AU 19 33626518 33626518 single base substitution T C intron_variant MELA-AU 19 33626538 33626538 single base substitution G A intron_variant MELA-AU 19 33626892 33626892 single base substitution T C intron_variant MELA-AU 19 33627028 33627028 single base substitution C T intron_variant MELA-AU 19 33627230 33627230 single base substitution G A intron_variant MELA-AU 19 33627231 33627231 single base substitution G A intron_variant MELA-AU 19 33627275 33627275 single base substitution T A intron_variant MELA-AU 19 33627481 33627481 single base substitution T C intron_variant MELA-AU 19 33627591 33627592 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 33627643 33627643 single base substitution A G intron_variant MELA-AU 19 33628392 33628392 single base substitution C T intron_variant MELA-AU 19 33628448 33628448 single base substitution C T intron_variant MELA-AU 19 33628477 33628477 single base substitution T A intron_variant MELA-AU 19 33628643 33628643 single base substitution G A missense_variant D113N 337G>A MELA-AU 19 33628736 33628737 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 19 33628916 33628916 single base substitution G A intron_variant MELA-AU 19 33628991 33628991 single base substitution G A intron_variant MELA-AU 19 33629002 33629002 single base substitution G A intron_variant MELA-AU 19 33629077 33629077 single base substitution G A intron_variant MELA-AU 19 33629345 33629345 single base substitution C T intron_variant MELA-AU 19 33629348 33629348 single base substitution G A intron_variant MELA-AU 19 33629443 33629443 single base substitution G A intron_variant MELA-AU 19 33629696 33629696 single base substitution C T intron_variant MELA-AU 19 33629733 33629733 single base substitution G A intron_variant MELA-AU 19 33629892 33629892 single base substitution C T intron_variant MELA-AU 19 33629907 33629907 single base substitution G A intron_variant MELA-AU 19 33629984 33629984 single base substitution C T intron_variant MELA-AU 19 33630179 33630179 single base substitution C T intron_variant MELA-AU 19 33630609 33630609 single base substitution C G intron_variant MELA-AU 19 33630835 33630835 single base substitution G A intron_variant MELA-AU 19 33630871 33630871 single base substitution C T intron_variant MELA-AU 19 33631029 33631029 single base substitution C T intron_variant MELA-AU 19 33631455 33631455 single base substitution G A intron_variant MELA-AU 19 33631679 33631679 single base substitution G A intron_variant MELA-AU 19 33631957 33631957 single base substitution C T intron_variant MELA-AU 19 33632113 33632113 single base substitution G A intron_variant MELA-AU 19 33632322 33632322 single base substitution G A intron_variant MELA-AU 19 33632384 33632384 single base substitution C T intron_variant MELA-AU 19 33632544 33632544 single base substitution C T intron_variant MELA-AU 19 33632656 33632656 single base substitution G A intron_variant MELA-AU 19 33632915 33632915 single base substitution G A intron_variant MELA-AU 19 33633255 33633255 single base substitution G A intron_variant MELA-AU 19 33633355 33633355 single base substitution C T intron_variant MELA-AU 19 33633441 33633441 single base substitution G A intron_variant MELA-AU 19 33633791 33633791 single base substitution G A intron_variant MELA-AU 19 33633858 33633858 single base substitution C T intron_variant MELA-AU 19 33633970 33633970 single base substitution C T intron_variant MELA-AU 19 33633984 33633984 single base substitution C T intron_variant MELA-AU 19 33633996 33633996 single base substitution G A intron_variant MELA-AU 19 33634342 33634342 single base substitution G A intron_variant MELA-AU 19 33634465 33634465 single base substitution G A intron_variant MELA-AU 19 33634659 33634659 single base substitution C T intron_variant MELA-AU 19 33634809 33634809 single base substitution C T intron_variant MELA-AU 19 33634945 33634945 single base substitution G A intron_variant MELA-AU 19 33634983 33634983 single base substitution G A intron_variant MELA-AU 19 33634984 33634984 single base substitution G A intron_variant MELA-AU 19 33635593 33635593 single base substitution C T intron_variant MELA-AU 19 33635637 33635637 single base substitution T C intron_variant MELA-AU 19 33636000 33636000 single base substitution C T intron_variant MELA-AU 19 33636180 33636180 single base substitution C T intron_variant MELA-AU 19 33636531 33636531 single base substitution C T intron_variant MELA-AU 19 33636540 33636540 single base substitution G A intron_variant MELA-AU 19 33636630 33636630 single base substitution G A intron_variant MELA-AU 19 33636898 33636898 single base substitution G A intron_variant MELA-AU 19 33636940 33636940 single base substitution G A intron_variant MELA-AU 19 33636983 33636983 single base substitution G A intron_variant MELA-AU 19 33637361 33637361 single base substitution C T intron_variant MELA-AU 19 33638300 33638300 single base substitution G A intron_variant MELA-AU 19 33638730 33638730 single base substitution G A intron_variant MELA-AU 19 33638914 33638914 single base substitution G A intron_variant MELA-AU 19 33639166 33639166 single base substitution C T intron_variant MELA-AU 19 33639551 33639551 single base substitution C T intron_variant MELA-AU 19 33640000 33640000 single base substitution G A downstream_gene_variant MELA-AU 19 33640000 33640000 single base substitution G A intron_variant MELA-AU 19 33640137 33640137 single base substitution G A downstream_gene_variant MELA-AU 19 33640137 33640137 single base substitution G A intron_variant MELA-AU 19 33640157 33640157 single base substitution G A downstream_gene_variant MELA-AU 19 33640157 33640157 single base substitution G A intron_variant MELA-AU 19 33640514 33640514 single base substitution C T downstream_gene_variant MELA-AU 19 33640514 33640514 single base substitution C T intron_variant MELA-AU 19 33640891 33640891 single base substitution A T downstream_gene_variant MELA-AU 19 33640891 33640891 single base substitution A T intron_variant MELA-AU 19 33641419 33641419 single base substitution C T downstream_gene_variant MELA-AU 19 33641419 33641419 single base substitution C T intron_variant MELA-AU 19 33641550 33641550 single base substitution C T downstream_gene_variant MELA-AU 19 33641550 33641550 single base substitution C T intron_variant MELA-AU 19 33641842 33641842 single base substitution C T downstream_gene_variant MELA-AU 19 33641842 33641842 single base substitution C T intron_variant MELA-AU 19 33642263 33642263 single base substitution C T downstream_gene_variant MELA-AU 19 33642263 33642263 single base substitution C T intron_variant MELA-AU 19 33642277 33642277 single base substitution C T downstream_gene_variant MELA-AU 19 33642277 33642277 single base substitution C T intron_variant MELA-AU 19 33642533 33642533 single base substitution C T downstream_gene_variant MELA-AU 19 33642533 33642533 single base substitution C T intron_variant MELA-AU 19 33642802 33642802 single base substitution A G downstream_gene_variant MELA-AU 19 33642802 33642802 single base substitution A G intron_variant MELA-AU 19 33642948 33642948 single base substitution G A downstream_gene_variant MELA-AU 19 33642948 33642948 single base substitution G A intron_variant MELA-AU 19 33643020 33643020 single base substitution C T downstream_gene_variant MELA-AU 19 33643020 33643020 single base substitution C T intron_variant MELA-AU 19 33643141 33643142 deletion of <=200bp AT - downstream_gene_variant MELA-AU 19 33643141 33643142 deletion of <=200bp AT - intron_variant MELA-AU 19 33643615 33643615 single base substitution C T downstream_gene_variant MELA-AU 19 33643615 33643615 single base substitution C T intron_variant MELA-AU 19 33643733 33643733 single base substitution C T downstream_gene_variant MELA-AU 19 33643733 33643733 single base substitution C T intron_variant MELA-AU 19 33643820 33643820 single base substitution A C downstream_gene_variant MELA-AU 19 33643820 33643820 single base substitution A C intron_variant MELA-AU 19 33643897 33643897 single base substitution G T downstream_gene_variant MELA-AU 19 33643897 33643897 single base substitution G T intron_variant MELA-AU 19 33643974 33643974 single base substitution C T downstream_gene_variant MELA-AU 19 33643974 33643974 single base substitution C T intron_variant MELA-AU 19 33644047 33644047 single base substitution C T downstream_gene_variant MELA-AU 19 33644047 33644047 single base substitution C T intron_variant MELA-AU 19 33644289 33644289 single base substitution C T downstream_gene_variant MELA-AU 19 33644289 33644289 single base substitution C T intron_variant MELA-AU 19 33644728 33644728 single base substitution C T intron_variant MELA-AU 19 33644850 33644850 single base substitution C T intron_variant MELA-AU 19 33645141 33645141 single base substitution C T intron_variant MELA-AU 19 33645679 33645679 single base substitution C T intron_variant MELA-AU 19 33646296 33646296 single base substitution C T intron_variant MELA-AU 19 33646316 33646316 single base substitution G A intron_variant MELA-AU 19 33646437 33646437 single base substitution G A intron_variant MELA-AU 19 33646495 33646495 single base substitution G A intron_variant MELA-AU 19 33646637 33646637 single base substitution G A intron_variant MELA-AU 19 33646654 33646654 single base substitution T C intron_variant MELA-AU 19 33647373 33647373 single base substitution C T stop_gained R308* 922C>T MELA-AU 19 33647729 33647729 single base substitution G A intron_variant MELA-AU 19 33647924 33647924 single base substitution A C intron_variant MELA-AU 19 33647925 33647925 single base substitution G A intron_variant MELA-AU 19 33647987 33647987 single base substitution C T intron_variant MELA-AU 19 33648482 33648482 single base substitution T C intron_variant MELA-AU 19 33649577 33649577 single base substitution C T intron_variant MELA-AU 19 33649816 33649816 single base substitution G A intron_variant MELA-AU 19 33650291 33650291 single base substitution A G intron_variant MELA-AU 19 33650306 33650306 single base substitution C T intron_variant MELA-AU 19 33650623 33650623 single base substitution G A intron_variant MELA-AU 19 33650680 33650680 single base substitution C T intron_variant MELA-AU 19 33650808 33650808 single base substitution C A intron_variant MELA-AU 19 33650872 33650872 single base substitution C T intron_variant MELA-AU 19 33650943 33650943 single base substitution G A intron_variant MELA-AU 19 33651116 33651116 single base substitution G A intron_variant MELA-AU 19 33651351 33651351 single base substitution G A synonymous_variant R343R 1029G>A MELA-AU 19 33651773 33651773 single base substitution G A intron_variant MELA-AU 19 33651876 33651876 single base substitution G A intron_variant MELA-AU 19 33652023 33652023 single base substitution G A intron_variant MELA-AU 19 33652185 33652185 single base substitution G A intron_variant MELA-AU 19 33652225 33652225 single base substitution A T intron_variant MELA-AU 19 33652326 33652326 single base substitution C T intron_variant MELA-AU 19 33652356 33652356 single base substitution G A intron_variant MELA-AU 19 33652507 33652507 single base substitution G A intron_variant MELA-AU 19 33652518 33652518 single base substitution G A intron_variant MELA-AU 19 33652541 33652541 single base substitution G A intron_variant MELA-AU 19 33652552 33652552 single base substitution G A intron_variant MELA-AU 19 33653286 33653286 deletion of <=200bp A - intron_variant MELA-AU 19 33653341 33653341 single base substitution G A intron_variant MELA-AU 19 33653500 33653500 single base substitution G A intron_variant MELA-AU 19 33653929 33653929 single base substitution C T intron_variant MELA-AU 19 33654442 33654442 single base substitution C A intron_variant MELA-AU 19 33654542 33654542 single base substitution C T intron_variant MELA-AU 19 33654904 33654904 single base substitution C G intron_variant MELA-AU 19 33655070 33655070 single base substitution C T intron_variant MELA-AU 19 33655447 33655447 single base substitution G A intron_variant MELA-AU 19 33655595 33655595 single base substitution C T intron_variant MELA-AU 19 33655643 33655643 single base substitution C T intron_variant MELA-AU 19 33657117 33657117 single base substitution G A intron_variant MELA-AU 19 33657686 33657686 single base substitution C T intron_variant MELA-AU 19 33657729 33657729 single base substitution G A intron_variant MELA-AU 19 33657956 33657956 single base substitution G A intron_variant MELA-AU 19 33658089 33658089 single base substitution A T intron_variant MELA-AU 19 33658304 33658304 single base substitution G A intron_variant MELA-AU 19 33659660 33659660 single base substitution G A intron_variant MELA-AU 19 33659896 33659896 single base substitution G A intron_variant MELA-AU 19 33660041 33660041 single base substitution C T intron_variant MELA-AU 19 33661789 33661789 single base substitution G A intron_variant MELA-AU 19 33661797 33661797 single base substitution C T intron_variant MELA-AU 19 33661961 33661962 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 33662627 33662627 single base substitution A T intron_variant MELA-AU 19 33662869 33662869 single base substitution G A intron_variant MELA-AU 19 33663808 33663808 single base substitution C T intron_variant MELA-AU 19 33663925 33663925 single base substitution G A intron_variant MELA-AU 19 33664104 33664104 single base substitution G A intron_variant MELA-AU 19 33664496 33664496 single base substitution A G intron_variant MELA-AU 19 33664501 33664501 single base substitution T C intron_variant MELA-AU 19 33664662 33664662 single base substitution G A intron_variant MELA-AU 19 33664907 33664907 single base substitution C T intron_variant MELA-AU 19 33664949 33664949 single base substitution G A intron_variant MELA-AU 19 33665634 33665634 single base substitution C T intron_variant MELA-AU 19 33665647 33665647 single base substitution G A intron_variant MELA-AU 19 33665696 33665696 single base substitution G A intron_variant MELA-AU 19 33666171 33666171 single base substitution C A intron_variant MELA-AU 19 33667741 33667742 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 33667778 33667778 single base substitution G A downstream_gene_variant MELA-AU 19 33667856 33667856 single base substitution G A downstream_gene_variant MELA-AU 19 33667885 33667885 single base substitution G A downstream_gene_variant MELA-AU 19 33668014 33668014 single base substitution G A downstream_gene_variant MELA-AU 19 33668037 33668037 single base substitution C T downstream_gene_variant MELA-AU 19 33668040 33668041 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 33668376 33668376 single base substitution C T downstream_gene_variant MELA-AU 19 33668919 33668919 single base substitution G A downstream_gene_variant MELA-AU 19 33669188 33669188 single base substitution T A downstream_gene_variant MELA-AU 19 33669483 33669483 single base substitution C T downstream_gene_variant MELA-AU 19 33669742 33669742 single base substitution C T downstream_gene_variant MELA-AU 19 33670147 33670147 single base substitution G A downstream_gene_variant MELA-AU 19 33670277 33670277 single base substitution C T downstream_gene_variant MELA-AU 19 33671212 33671212 single base substitution T A downstream_gene_variant ORCA-IN 19 33635778 33635778 single base substitution A G missense_variant D139G 416A>G OV-AU 19 33625177 33625177 single base substitution C G intron_variant OV-AU 19 33626512 33626512 single base substitution C T intron_variant OV-AU 19 33626849 33626849 single base substitution G A intron_variant OV-AU 19 33626850 33626850 single base substitution C G intron_variant OV-AU 19 33631421 33631421 single base substitution C T intron_variant OV-AU 19 33631499 33631499 single base substitution C G intron_variant OV-AU 19 33632137 33632137 single base substitution T G intron_variant OV-AU 19 33632144 33632144 single base substitution T G intron_variant OV-AU 19 33634119 33634119 single base substitution T C intron_variant OV-AU 19 33637577 33637577 single base substitution C A intron_variant OV-AU 19 33640409 33640409 single base substitution C A downstream_gene_variant OV-AU 19 33640409 33640409 single base substitution C A intron_variant OV-AU 19 33650070 33650070 single base substitution C A intron_variant OV-AU 19 33650527 33650527 single base substitution G A intron_variant OV-AU 19 33651122 33651122 single base substitution C T intron_variant OV-AU 19 33651972 33651972 single base substitution G T intron_variant OV-AU 19 33657372 33657372 single base substitution C G intron_variant OV-AU 19 33661583 33661583 single base substitution G A intron_variant OV-AU 19 33661862 33661862 single base substitution T C intron_variant OV-AU 19 33662719 33662719 single base substitution G C intron_variant OV-AU 19 33663102 33663102 single base substitution C G intron_variant OV-AU 19 33668046 33668046 single base substitution G C downstream_gene_variant OV-AU 19 33668149 33668149 single base substitution G A downstream_gene_variant OV-AU 19 33670930 33670930 single base substitution T G downstream_gene_variant PACA-AU 19 33619088 33619088 single base substitution G A upstream_gene_variant PACA-AU 19 33620410 33620410 single base substitution G A upstream_gene_variant PACA-AU 19 33623166 33623166 single base substitution G A missense_variant G31S 91G>A PACA-AU 19 33623198 33623198 single base substitution C T synonymous_variant A41A 123C>T PACA-AU 19 33625166 33625166 deletion of <=200bp C - intron_variant PACA-AU 19 33626807 33626807 deletion of <=200bp A - intron_variant PACA-AU 19 33631411 33631411 single base substitution G A intron_variant PACA-AU 19 33638800 33638800 single base substitution A C intron_variant PACA-AU 19 33642987 33642987 single base substitution A C downstream_gene_variant PACA-AU 19 33642987 33642987 single base substitution A C intron_variant PACA-AU 19 33644493 33644493 single base substitution C T downstream_gene_variant PACA-AU 19 33644493 33644493 single base substitution C T intron_variant PACA-AU 19 33645220 33645220 single base substitution G A intron_variant PACA-AU 19 33646952 33646952 single base substitution A G intron_variant PACA-AU 19 33648998 33648998 single base substitution C T intron_variant PACA-AU 19 33655052 33655052 single base substitution C A intron_variant PACA-AU 19 33658195 33658195 single base substitution G C intron_variant PACA-AU 19 33664171 33664171 single base substitution C T intron_variant PACA-AU 19 33665893 33665893 single base substitution C T intron_variant PACA-AU 19 33666545 33666545 insertion of <=200bp - T 3_prime_UTR_variant PACA-AU 19 33671528 33671528 deletion of <=200bp A - downstream_gene_variant PACA-CA 19 33618759 33618759 single base substitution C T upstream_gene_variant PACA-CA 19 33619111 33619111 single base substitution A G upstream_gene_variant PACA-CA 19 33623015 33623015 single base substitution C T 5_prime_UTR_variant PACA-CA 19 33630568 33630568 single base substitution G T intron_variant PACA-CA 19 33637126 33637126 single base substitution C T intron_variant PACA-CA 19 33638225 33638225 single base substitution T C intron_variant PACA-CA 19 33641184 33641184 single base substitution C T downstream_gene_variant PACA-CA 19 33641184 33641184 single base substitution C T intron_variant PACA-CA 19 33642785 33642785 deletion of <=200bp A - downstream_gene_variant PACA-CA 19 33642785 33642785 deletion of <=200bp A - intron_variant PACA-CA 19 33644926 33644926 deletion of <=200bp A - intron_variant PACA-CA 19 33649864 33649864 single base substitution C A intron_variant PACA-CA 19 33652859 33652859 single base substitution G A intron_variant PACA-CA 19 33654427 33654427 single base substitution A C intron_variant PACA-CA 19 33658463 33658463 single base substitution G C intron_variant PACA-CA 19 33658812 33658812 single base substitution C T intron_variant PACA-CA 19 33661582 33661582 single base substitution C T intron_variant PACA-CA 19 33661641 33661641 single base substitution G A intron_variant PACA-CA 19 33665864 33665864 single base substitution C T intron_variant PACA-CA 19 33667998 33667998 single base substitution G A downstream_gene_variant PAEN-AU 19 33620576 33620576 single base substitution G T upstream_gene_variant PAEN-AU 19 33621817 33621817 single base substitution G C upstream_gene_variant PAEN-AU 19 33632137 33632137 single base substitution T G intron_variant PAEN-AU 19 33632144 33632144 single base substitution T G intron_variant PAEN-AU 19 33648497 33648497 single base substitution A G intron_variant PAEN-IT 19 33642460 33642460 single base substitution C A downstream_gene_variant PAEN-IT 19 33642460 33642460 single base substitution C A intron_variant PAEN-IT 19 33644615 33644615 single base substitution G T downstream_gene_variant PAEN-IT 19 33644615 33644615 single base substitution G T intron_variant PBCA-DE 19 33621085 33621085 single base substitution C G upstream_gene_variant PBCA-DE 19 33625750 33625750 single base substitution C T intron_variant PBCA-DE 19 33628475 33628475 insertion of <=200bp - T intron_variant PBCA-DE 19 33632010 33632010 insertion of <=200bp - T intron_variant PBCA-DE 19 33635762 33635762 single base substitution G A missense_variant G134S 400G>A PBCA-DE 19 33637394 33637394 single base substitution C T intron_variant PBCA-DE 19 33639191 33639191 single base substitution G A intron_variant PBCA-DE 19 33642477 33642477 single base substitution C T downstream_gene_variant PBCA-DE 19 33642477 33642477 single base substitution C T intron_variant PBCA-DE 19 33643141 33643142 deletion of <=200bp AT - downstream_gene_variant PBCA-DE 19 33643141 33643142 deletion of <=200bp AT - intron_variant PBCA-DE 19 33650819 33650819 single base substitution T C intron_variant PBCA-DE 19 33651903 33651903 deletion of <=200bp C - intron_variant PBCA-DE 19 33652668 33652668 single base substitution C T intron_variant PBCA-DE 19 33653115 33653115 insertion of <=200bp - T intron_variant PBCA-DE 19 33657333 33657333 insertion of <=200bp - A intron_variant PBCA-DE 19 33661381 33661381 single base substitution C T intron_variant PBCA-DE 19 33667842 33667842 single base substitution T G downstream_gene_variant PBCA-DE 19 33668065 33668065 single base substitution T C downstream_gene_variant PBCA-DE 19 33670089 33670089 single base substitution T G downstream_gene_variant PRAD-CA 19 33626386 33626386 single base substitution G A intron_variant PRAD-CA 19 33636913 33636913 single base substitution T A intron_variant PRAD-CA 19 33637378 33637378 single base substitution C T intron_variant PRAD-CA 19 33638641 33638641 single base substitution T C intron_variant PRAD-CA 19 33640576 33640576 single base substitution C T downstream_gene_variant PRAD-CA 19 33640576 33640576 single base substitution C T intron_variant PRAD-CA 19 33663829 33663829 single base substitution C G intron_variant PRAD-CA 19 33668091 33668091 single base substitution C A downstream_gene_variant PRAD-UK 19 33652047 33652047 single base substitution C A intron_variant READ-US 19 33642162 33642162 single base substitution G A downstream_gene_variant READ-US 19 33642162 33642162 single base substitution G A missense_variant R252K 755G>A RECA-EU 19 33624344 33624344 single base substitution C T intron_variant RECA-EU 19 33624815 33624815 single base substitution C T intron_variant RECA-EU 19 33631381 33631381 single base substitution C T intron_variant RECA-EU 19 33663739 33663739 single base substitution T C intron_variant RECA-EU 19 33670492 33670492 single base substitution A C downstream_gene_variant SKCA-BR 19 33618425 33618426 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 19 33619253 33619253 single base substitution A C upstream_gene_variant SKCA-BR 19 33620488 33620488 single base substitution T A upstream_gene_variant SKCA-BR 19 33621277 33621277 single base substitution C T upstream_gene_variant SKCA-BR 19 33621278 33621278 single base substitution C T upstream_gene_variant SKCA-BR 19 33621451 33621451 single base substitution T C upstream_gene_variant SKCA-BR 19 33622202 33622203 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 19 33623135 33623135 single base substitution A C synonymous_variant P20P 60A>C SKCA-BR 19 33624102 33624102 insertion of <=200bp - TAGAG intron_variant SKCA-BR 19 33625955 33625958 deletion of <=200bp GGGT - intron_variant SKCA-BR 19 33630227 33630227 single base substitution C T intron_variant SKCA-BR 19 33632133 33632133 insertion of <=200bp - GTTTTTTTT intron_variant SKCA-BR 19 33632139 33632139 insertion of <=200bp - TTTGTTTG intron_variant SKCA-BR 19 33632146 33632146 single base substitution T G intron_variant SKCA-BR 19 33632147 33632147 single base substitution C T intron_variant SKCA-BR 19 33634838 33634838 single base substitution C T intron_variant SKCA-BR 19 33635662 33635662 single base substitution A G intron_variant SKCA-BR 19 33635663 33635664 deletion of <=200bp GC - intron_variant SKCA-BR 19 33635871 33635871 single base substitution G A intron_variant SKCA-BR 19 33637376 33637402 deletion of <=200bp TCCTTCCTTCCTTCCTTCCTTCCTTCC - intron_variant SKCA-BR 19 33637900 33637900 single base substitution C T intron_variant SKCA-BR 19 33638586 33638586 single base substitution C G 3_prime_UTR_variant SKCA-BR 19 33638586 33638586 single base substitution C G missense_variant A171G 512C>G SKCA-BR 19 33647178 33647178 single base substitution G A intron_variant SKCA-BR 19 33648182 33648182 single base substitution C T intron_variant SKCA-BR 19 33648583 33648599 deletion of <=200bp GTGTATGTATGTATATA - intron_variant SKCA-BR 19 33648583 33648607 deletion of <=200bp GTGTATGTATGTATATATATATATA - intron_variant SKCA-BR 19 33648585 33648599 deletion of <=200bp GTATGTATGTATATA - intron_variant SKCA-BR 19 33648585 33648613 deletion of <=200bp GTATGTATGTATATATATATATATATATA - intron_variant SKCA-BR 19 33648593 33648593 single base substitution G A intron_variant SKCA-BR 19 33652542 33652542 single base substitution G A intron_variant SKCA-BR 19 33652551 33652551 single base substitution G A intron_variant SKCA-BR 19 33653822 33653822 single base substitution G A intron_variant SKCA-BR 19 33655318 33655318 single base substitution G A intron_variant SKCA-BR 19 33656722 33656722 single base substitution C T intron_variant SKCA-BR 19 33656723 33656723 single base substitution C T intron_variant SKCA-BR 19 33656807 33656807 insertion of <=200bp - CA intron_variant SKCA-BR 19 33656835 33656835 single base substitution C T intron_variant SKCA-BR 19 33659032 33659032 single base substitution C T intron_variant SKCA-BR 19 33661780 33661780 single base substitution A G intron_variant SKCA-BR 19 33664661 33664661 single base substitution G A intron_variant SKCA-BR 19 33664892 33664892 single base substitution G T intron_variant SKCA-BR 19 33667288 33667288 single base substitution T G downstream_gene_variant SKCA-BR 19 33667317 33667317 single base substitution T G downstream_gene_variant SKCA-BR 19 33667885 33667885 single base substitution G A downstream_gene_variant SKCA-BR 19 33667953 33667953 single base substitution C T downstream_gene_variant SKCM-US 19 33623137 33623137 single base substitution C T missense_variant P21L 62C>T SKCM-US 19 33623141 33623141 single base substitution C T synonymous_variant S22S 66C>T SKCM-US 19 33623218 33623218 single base substitution C T missense_variant S48L 143C>T SKCM-US 19 33623254 33623254 single base substitution C T missense_variant P60L 179C>T SKCM-US 19 33623339 33623339 single base substitution C T synonymous_variant D88D 264C>T SKCM-US 19 33638555 33638555 single base substitution A G missense_variant H160R 479A>G SKCM-US 19 33638555 33638555 single base substitution A G missense_variant I161V 481A>G SKCM-US 19 33638591 33638591 single base substitution G A 3_prime_UTR_variant SKCM-US 19 33638591 33638591 single base substitution G A missense_variant D173N 517G>A SKCM-US 19 33639704 33639704 single base substitution C T 3_prime_UTR_variant SKCM-US 19 33639704 33639704 single base substitution C T synonymous_variant I189I 567C>T SKCM-US 19 33639710 33639710 single base substitution C T 3_prime_UTR_variant SKCM-US 19 33639710 33639710 single base substitution C T synonymous_variant S191S 573C>T SKCM-US 19 33639752 33639752 single base substitution C T downstream_gene_variant SKCM-US 19 33639752 33639752 single base substitution C T synonymous_variant F205F 615C>T SKCM-US 19 33647270 33647270 single base substitution C T synonymous_variant S273S 819C>T SKCM-US 19 33647373 33647373 single base substitution C T stop_gained R308* 922C>T SKCM-US 19 33666309 33666309 single base substitution G A 3_prime_UTR_variant SKCM-US 19 33666309 33666309 single base substitution G A missense_variant R417K 1250G>A STAD-US 19 33621034 33621034 single base substitution A C upstream_gene_variant STAD-US 19 33623132 33623132 single base substitution G A synonymous_variant P19P 57G>A STAD-US 19 33623191 33623191 single base substitution C T missense_variant A39V 116C>T STAD-US 19 33623225 33623225 single base substitution G A synonymous_variant P50P 150G>A STAD-US 19 33623249 33623249 single base substitution C T synonymous_variant L58L 174C>T STAD-US 19 33623259 33623259 single base substitution G A missense_variant A62T 184G>A STAD-US 19 33628609 33628609 single base substitution C T synonymous_variant H101H 303C>T STAD-US 19 33638559 33638559 single base substitution C T missense_variant A162V 485C>T STAD-US 19 33638559 33638559 single base substitution C T synonymous_variant C161C 483C>T STAD-US 19 33647305 33647305 single base substitution G A missense_variant G285D 854G>A STAD-US 19 33647307 33647307 single base substitution C T missense_variant H286Y 856C>T STAD-US 19 33647411 33647411 single base substitution T C synonymous_variant H320H 960T>C STAD-US 19 33647448 33647448 insertion of <=200bp - CA frameshift_variant S333Q? STAD-US 19 33651380 33651380 single base substitution G A missense_variant G353D 1058G>A STAD-US 19 33663258 33663258 single base substitution G T missense_variant R385M 1154G>T STAD-US 19 33666372 33666372 single base substitution T C 3_prime_UTR_variant STAD-US 19 33666372 33666372 single base substitution T C missense_variant V438A 1313T>C STAD-US 19 33666454 33666454 single base substitution G A 3_prime_UTR_variant STAD-US 19 33666454 33666454 single base substitution G A synonymous_variant P465P 1395G>A THCA-SA 19 33666305 33666305 single base substitution G A 3_prime_UTR_variant THCA-SA 19 33666305 33666305 single base substitution G A missense_variant E416K 1246G>A THCA-US 19 33666304 33666304 single base substitution C T splice_region_variant UCEC-US 19 33635777 33635777 single base substitution G A missense_variant D139N 415G>A UCEC-US 19 33639782 33639782 single base substitution C T downstream_gene_variant UCEC-US 19 33639782 33639782 single base substitution C T synonymous_variant D215D 645C>T UCEC-US 19 33639783 33639783 single base substitution G A downstream_gene_variant UCEC-US 19 33639783 33639783 single base substitution G A missense_variant A216T 646G>A UCEC-US 19 33647373 33647373 single base substitution C T stop_gained R308* 922C>T UCEC-US 19 33651323 33651323 single base substitution C T missense_variant S334F 1001C>T UCEC-US 19 33655169 33655169 single base substitution A T stop_gained K383* 1147A>T UCEC-US 19 33666371 33666371 single base substitution G A 3_prime_UTR_variant UCEC-US 19 33666371 33666371 single base substitution G A missense_variant V438M 1312G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BR-6452-01 COSM187210 c.116C>T p.A39V Substitution - Missense 19:33132285-33132285 + YUSMI COSM5389340 c.88_89CC>TT p.P30F Substitution - Missense 19:33132257-33132258 + TCGA-FW-A3TU-06 COSM3532242 c.1250G>A p.R417K Substitution - Missense 19:33175403-33175403 + TCGA-AM-5821-01 COSM3756614 c.399C>T p.D133D Substitution - coding silent 19:33144855-33144855 + TCGA-A6-6653-01 COSM994685 c.1312G>A p.V438M Substitution - Missense 19:33175465-33175465 + HCC2998 COSM2751396 c.240G>T p.E80D Substitution - Missense 19:33132409-33132409 + PAPNNX COSM2751391 c.156G>A p.T52T Substitution - coding silent 19:33132325-33132325 + SNUH_G76_S1 COSM3756616 c.928T>C p.C310R Substitution - Missense 19:33156473-33156473 + PD5945a COSM5785406 c.541-9T>A p.? Unknown 19:33148763-33148763 + TCGA-BR-6452-01 COSM4076775 c.1313T>C p.V438A Substitution - Missense 19:33175466-33175466 + TCGA-ER-A2NG-06 COSM3532230 c.179C>T p.P60L Substitution - Missense 19:33132348-33132348 + 587342 COSM1232700 c.73G>A p.A25T Substitution - Missense 19:33132242-33132242 + OSCC-GB_00380111 COSM3712747 c.416A>G p.D139G Substitution - Missense 19:33144872-33144872 + RK119_C01 COSM3742894 c.465C>T p.G155G Substitution - coding silent 19:33144921-33144921 + TCGA-DK-A1A7-01 COSM418336 c.1185T>C p.I395I Substitution - coding silent 19:33172383-33172383 + TCGA-BR-4253-01 COSM4076767 c.856C>T p.H286Y Substitution - Missense 19:33156401-33156401 + TCGA-B0-4824-01 COSM3362790 c.1153A>T p.R385W Substitution - Missense 19:33172351-33172351 + TCGA-66-2768-01 COSM710387 c.1170G>C p.W390C Substitution - Missense 19:33172368-33172368 + 2492709 COSM5718465 c.8C>T p.S3F Substitution - Missense 19:33132177-33132177 + CLL093 COSM1290926 c.1315T>C p.F439L Substitution - Missense 19:33175468-33175468 + 587222 COSM1232699 c.1090G>T p.D364Y Substitution - Missense 19:33164206-33164206 + STC252 COSM5056513 c.1373C>T p.S458L Substitution - Missense 19:33175526-33175526 + Pat_06_A COSM5340978 c.1360_1362delTCA p.S458delS Deletion - In frame 19:33175513-33175515 + YUDEDE COSM1712130 c.1130G>A p.W377* Substitution - Nonsense 19:33164246-33164246 + T3024 COSM4076756 c.150G>A p.P50P Substitution - coding silent 19:33132319-33132319 + 38T COSM3712747 c.416A>G p.D139G Substitution - Missense 19:33144872-33144872 + TCGA-EE-A29D-06 COSM3532232 c.481A>G p.I161V Substitution - Missense 19:33147649-33147649 + TCGA-BR-8487-01 COSM4076756 c.150G>A p.P50P Substitution - coding silent 19:33132319-33132319 + PD4252a COSM5784900 c.804C>A p.I268I Substitution - coding silent 19:33151305-33151305 + TCGA-AB-2881-03 COSM1318332 c.93C>A p.G31G Substitution - coding silent 19:33132262-33132262 + 587376 COSM994682 c.922C>T p.R308* Substitution - Nonsense 19:33156467-33156467 + TCGA-FD-A3N6-01 COSM1304408 c.66C>T p.S22S Substitution - coding silent 19:33132235-33132235 + CSCC-18-T COSM4552341 c.556G>A p.D186N Substitution - Missense 19:33148787-33148787 + CRC-19T COSM5481509 c.1391C>T p.P464L Substitution - Missense 19:33175544-33175544 + Pat_41_B COSM5855408 c.662C>T p.T221I Substitution - Missense 19:33148893-33148893 + HCC2218 COSM32281 c.496G>C p.D166H Substitution - Missense 19:33147664-33147664 + TCGA-AF-2690-01 COSM3422655 c.755G>A p.R252K Substitution - Missense 19:33151256-33151256 + T3336 COSM994682 c.922C>T p.R308* Substitution - Nonsense 19:33156467-33156467 + T3720 COSM4741111 c.206C>T p.P69L Substitution - Missense 19:33132375-33132375 + 2521252 COSM1392653 c.616G>A p.D206N Substitution - Missense 19:33148847-33148847 + 296_T COSM1392654 c.670G>A p.V224I Substitution - Missense 19:33148901-33148901 + HCT116 COSM2751421 c.1320C>T p.C440C Substitution - coding silent 19:33175473-33175473 + PT35 COSM5914227 c.923G>A p.R308Q Substitution - Missense 19:33156468-33156468 + ICGC_MB81 COSM3764727 c.400G>A p.G134S Substitution - Missense 19:33144856-33144856 + SJRHB037 COSM3738209 c.1341G>T p.L447F Substitution - Missense 19:33175494-33175494 + CRC-9 COSM304956 c.319A>C p.T107P Substitution - Missense 19:33137719-33137719 + TCGA-AD-6964-01 COSM1392654 c.670G>A p.V224I Substitution - Missense 19:33148901-33148901 + TCGA-D1-A17Q-01 COSM994683 c.1001C>T p.S334F Substitution - Missense 19:33160417-33160417 + TCGA-EE-A29P-06 COSM3532226 c.62C>T p.P21L Substitution - Missense 19:33132231-33132231 + HCT15 COSM2751404 c.492C>A p.S164S Substitution - coding silent 19:33147660-33147660 + TCGA-CG-5733-01 COSM4076776 c.1395G>A p.P465P Substitution - coding silent 19:33175548-33175548 + TCGA-33-4566-01 COSM710392 c.80A>T p.E27V Substitution - Missense 19:33132249-33132249 + PT52 COSM5940967 c.586C>T p.P196S Substitution - Missense 19:33148817-33148817 + 8030245 COSM3770998 c.123C>T p.A41A Substitution - coding silent 19:33132292-33132292 + TCGA-FW-A3R5-06 COSM1304408 c.66C>T p.S22S Substitution - coding silent 19:33132235-33132235 + T578 COSM4741113 c.207G>A p.P69P Substitution - coding silent 19:33132376-33132376 + TCGA-D9-A1JW-06 COSM3532237 c.573C>T p.S191S Substitution - coding silent 19:33148804-33148804 + J46_T COSM3959901 c.957C>T p.G319G Substitution - coding silent 19:33156502-33156502 + 8015109 COSM3388843 c.91G>A p.G31S Substitution - Missense 19:33132260-33132260 + BD134T COSM5494481 c.737C>T p.A246V Substitution - Missense 19:33151238-33151238 + PT37 COSM5921619 c.268C>T p.L90F Substitution - Missense 19:33132437-33132437 + Br27P COSM40890 c.1029G>A p.R343R Substitution - coding silent 19:33160445-33160445 + TCGA-BS-A0UV-01 COSM994682 c.922C>T p.R308* Substitution - Nonsense 19:33156467-33156467 + TCGA-AM-5820-01 COSM3756616 c.928T>C p.C310R Substitution - Missense 19:33156473-33156473 + BD46T COSM5520356 c.393G>A p.P131P Substitution - coding silent 19:33144849-33144849 + SW48 COSM2751390 c.155C>T p.T52M Substitution - Missense 19:33132324-33132324 + TCGA-A6-6141-01 COSM1392655 c.1011T>G p.I337M Substitution - Missense 19:33160427-33160427 + CLN2 COSM5024854 c.954G>T p.Q318H Substitution - Missense 19:33156499-33156499 + HCT8 COSM2751404 c.492C>A p.S164S Substitution - coding silent 19:33147660-33147660 + BZ04 COSM5757857 c.616G>C p.D206H Substitution - Missense 19:33148847-33148847 + TCGA-D9-A1JW-06 COSM175674 c.567C>T p.I189I Substitution - coding silent 19:33148798-33148798 + TCGA-DJ-A3VA-01 COSM267763 c.1245C>T p.C415C Substitution - coding silent 19:33175398-33175398 + TCGA-14-0871-01 COSM3404084 c.1023T>A p.F341L Substitution - Missense 19:33160439-33160439 + CSCC-27-T COSM4471299 c.170C>T p.T57I Substitution - Missense 19:33132339-33132339 + TCGA-BR-8372-01 COSM4076773 c.1154G>T p.R385M Substitution - Missense 19:33172352-33172352 + SC_9017 COSM1232700 c.73G>A p.A25T Substitution - Missense 19:33132242-33132242 + 2217540 COSM4422123 c.703T>C p.S235P Substitution - Missense 19:33151204-33151204 + TCGA-34-5927-01 COSM710391 c.283T>C p.F95L Substitution - Missense 19:33137683-33137683 + TCGA-D3-A5GU-06 COSM3532239 c.819C>T p.S273S Substitution - coding silent 19:33156364-33156364 + SA213 COSM213925 c.1388C>T p.S463L Substitution - Missense 19:33175541-33175541 + TCGA-04-1338-01 COSM78777 c.355A>T p.S119C Substitution - Missense 19:33137755-33137755 + CSCC-47-T COSM4507248 c.740C>T p.S247F Substitution - Missense 19:33151241-33151241 + TCGA-AP-A054-01 COSM565518 c.645C>T p.D215D Substitution - coding silent 19:33148876-33148876 + TCGA-HJ-7597-01 COSM4076753 c.57G>A p.P19P Substitution - coding silent 19:33132226-33132226 + EGC8 COSM1304408 c.66C>T p.S22S Substitution - coding silent 19:33132235-33132235 + 98735 COSM326880 c.1401G>C p.R467S Substitution - Missense 19:33175554-33175554 + BD49T COSM5498327 c.304G>A p.E102K Substitution - Missense 19:33137704-33137704 + LP6007420-DNA_A01 COSM4413000 c.307C>A p.H103N Substitution - Missense 19:33137707-33137707 + SJRHB036A COSM3737796 c.477-4C>G p.? Unknown 19:33147641-33147641 + TCGA-CG-5721-01 COSM4076765 c.854G>A p.G285D Substitution - Missense 19:33156399-33156399 + TCGA-CG-4442-01 COSM4076763 c.485C>T p.A162V Substitution - Missense 19:33147653-33147653 + LUAD-D02185 COSM338588 c.298G>T p.G100W Substitution - Missense 19:33137698-33137698 + TCGA-IN-7808-01 COSM4076771 c.1058G>A p.G353D Substitution - Missense 19:33160474-33160474 + TCGA-FW-A3R5-06 COSM187215 c.615C>T p.F205F Substitution - coding silent 19:33148846-33148846 + TCGA-D1-A16X-01 COSM994684 c.1147A>T p.K383* Substitution - Nonsense 19:33164263-33164263 + TCGA-AO-A128-01 COSM3822676 c.1115G>A p.S372N Substitution - Missense 19:33164231-33164231 + TCGA-66-2782-01 COSM710390 c.312T>A p.A104A Substitution - coding silent 19:33137712-33137712 + TCGA-EE-A2MR-06 COSM3532234 c.517G>A p.D173N Substitution - Missense 19:33147685-33147685 + PT15_1 COSM5898015 c.900G>A p.W300* Substitution - Nonsense 19:33156445-33156445 + TCGA-D1-A103-01 COSM994680 c.415G>A p.D139N Substitution - Missense 19:33144871-33144871 + PT49 COSM5936545 c.1016G>A p.G339E Substitution - Missense 19:33160432-33160432 + ESCC_31 COSM5627841 c.720C>T p.P240P Substitution - coding silent 19:33151221-33151221 + TCGA-AA-3696-01 COSM293500 c.1258A>G p.R420G Substitution - Missense 19:33175411-33175411 + 2492710 COSM5718465 c.8C>T p.S3F Substitution - Missense 19:33132177-33132177 + TCGA-66-2783-01 COSM710389 c.646G>C p.A216P Substitution - Missense 19:33148877-33148877 + TCGA-HU-A4GX-01 COSM4076758 c.174C>T p.L58L Substitution - coding silent 19:33132343-33132343 + tumor_4160468 COSM2751399 c.466G>A p.D156N Substitution - Missense 19:33144922-33144922 + 2492708 COSM5718465 c.8C>T p.S3F Substitution - Missense 19:33132177-33132177 + TCGA-D3-A3C8-06 COSM994682 c.922C>T p.R308* Substitution - Nonsense 19:33156467-33156467 + PT21_2 COSM5902106 c.88C>T p.P30S Substitution - Missense 19:33132257-33132257 + KPOPBR-40-T COSM5965982 c.827T>A p.I276N Substitution - Missense 19:33156372-33156372 + Pat_45_B COSM5855406 c.25C>T p.P9S Substitution - Missense 19:33132194-33132194 + TCGA-13-1510-01 COSM115946 c.754A>T p.R252W Substitution - Missense 19:33151255-33151255 + TCGA-D1-A17M-01 COSM994679 c.412C>T p.R138C Substitution - Missense 19:33144868-33144868 + DLD1 COSM2751404 c.492C>A p.S164S Substitution - coding silent 19:33147660-33147660 + TCGA-AP-A056-01 COSM994681 c.646G>A p.A216T Substitution - Missense 19:33148877-33148877 + ESCC_BICR_007T COSM267763 c.1245C>T p.C415C Substitution - coding silent 19:33175398-33175398 + YUSIPU COSM5389342 c.237G>A p.P79P Substitution - coding silent 19:33132406-33132406 + TCGA-FW-A3R5-06 COSM3892239 c.264C>T p.D88D Substitution - coding silent 19:33132433-33132433 + TCGA-AA-3672-01 COSM267763 c.1245C>T p.C415C Substitution - coding silent 19:33175398-33175398 + TCGA-AG-4007-01 COSM289503 c.669C>T p.S223S Substitution - coding silent 19:33148900-33148900 + BK0049 COSM4187895 c.535C>A p.L179M Substitution - Missense 19:33147703-33147703 + TCGA-CA-6717-01 COSM1392653 c.616G>A p.D206N Substitution - Missense 19:33148847-33148847 + YUWAGE COSM1712129 c.568G>A p.V190I Substitution - Missense 19:33148799-33148799 + NCI-H727 COSM2751413 c.1013C>T p.S338F Substitution - Missense 19:33160429-33160429 + TCGA-60-2723-01 COSM710388 c.745T>G p.S249A Substitution - Missense 19:33151246-33151246 + J46_T COSM3959903 c.1136T>C p.L379P Substitution - Missense 19:33164252-33164252 + TCGA-A5-A0GB-01 COSM994685 c.1312G>A p.V438M Substitution - Missense 19:33175465-33175465 + TCGA-AZ-4315-01 COSM1392657 c.1180G>T p.E394* Substitution - Nonsense 19:33172378-33172378 + YULOCUS COSM5389344 c.522G>A p.L174L Substitution - coding silent 19:33147690-33147690 + 2112 COSM144409 c.512C>G p.A171G Substitution - Missense 19:33147680-33147680 + 20 COSM5013419 c.218C>T p.P73L Substitution - Missense 19:33132387-33132387 + TCGA-BR-4280-01 COSM4076769 c.960T>C p.H320H Substitution - coding silent 19:33156505-33156505 + WA40 COSM238439 c.675C>T p.I225I Substitution - coding silent 19:33148906-33148906 + TCGA-CG-5733-01 COSM4076760 c.184G>A p.A62T Substitution - Missense 19:33132353-33132353 + TCGA-EE-A2MR-06 COSM3532228 c.143C>T p.S48L Substitution - Missense 19:33132312-33132312 + I2L-P24Tb-Tumor-Organoid COSM5365362 c.1394C>T p.P465L Substitution - Missense 19:33175547-33175547 + TCGA-D5-6930-01 COSM1392652 c.303C>T p.H101H Substitution - coding silent 19:33137703-33137703 + TCGA-IN-7808-01 COSM1392652 c.303C>T p.H101H Substitution - coding silent 19:33137703-33137703 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.211005;Hs.211033;Hs.211046 19q13.11

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer ACCC - IntronicDeletion . c.388-3322_388-3319delCCCA 19 33632427 CLL A G Missense p.R420G c.1258A>G 19 33666317 COREAD ATGTGTGTGTGT - IntronicDeletion . c.997+1101_997+1112delGTGTGTGTATGT 19 33648545 CLL A T Missense p.R252W c.754A>T 19 33642161 OV A T Missense p.R385W c.1153A>T 19 33663257 RCCC A T Missense p.S119C c.355A>T 19 33628661 OV C T Missense p.H286Y c.856C>T 19 33647307 STAD C T Missense p.P21L c.62C>T 19 33623137 CM C T Missense p.P60L c.179C>T 19 33623254 CM C T Missense p.S430F c.1289C>T 19 33666348 CM C T Missense p.S463L c.1388C>T 19 33666447 BRCA C T Nonsense p.R308* c.922C>T 19 33647373 CM C T Nonsense p.R308* c.922C>T 19 33647373 HNSC C T Synonymous p.D215D c.645C>T 19 33639782 BRCA C T Synonymous p.D215D c.645C>T 19 33639782 LUAD C T Synonymous p.D215D c.645C>T 19 33639782 UCEC C T Synonymous p.I189I c.567C>T 19 33639704 CM C T Synonymous p.S191S c.573C>T 19 33639710 CM C T Synonymous p.S223S c.669C>T 19 33639806 COREAD C T Synonymous p.S22S c.66C>T 19 33623141 BLCA G A Missense p.A62T c.184G>A 19 33623259 STAD G A Missense p.D471N c.1411G>A 19 33666470 CM G A Missense p.E150K c.448G>A 19 33635810 CM G A Missense p.G134S c.400G>A 19 33635762 MB G A Missense p.V438M c.1312G>A 19 33666371 UCEC G A Synonymous p.P465P c.1395G>A 19 33666454 STAD G A Synonymous p.P79P c.237G>A 19 33623312 HNSC G C Missense p.A216P c.646G>C 19 33639783 LUSC G C Missense p.R467S c.1401G>C 19 33666460 SCLC G C Missense p.W390C c.1170G>C 19 33663274 LUSC G T Missense p.D215Y c.643G>T 19 33639780 CM T A Missense p.F341L c.1023T>A 19 33651345 GBM T A Missense p.S99R c.297T>A 19 33628603 LUAD T A Synonymous p.A104A c.312T>A 19 33628618 LUSC TCA - InFrameDeletion p.S458delS c.1371_1373delATC 19 33666419 GBM T C Missense p.F439L c.1315T>C 19 33666374 CLL T C Missense p.F95L c.283T>C 19 33628589 LUSC T C Synonymous p.H320H c.960T>C 19 33647411 STAD T C Synonymous p.I395I c.1185T>C 19 33663289 BLCA T G Missense p.S249A c.745T>G 19 33642152 LUSC