Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 19 40720079 40720079 + Silent SNP C C T TCGA-P6-A5OH-01A-11D-A30A-10 TCGA-P6-A5OH-11A-01D-A30A-10 g.chr19:40720079C>T c.2493C>T c.(2491-2493)gaC>gaT p.D831D BLCA 19 40710488 40710488 + Silent SNP G G A TCGA-GU-A42P-01A-11D-A23U-08 TCGA-GU-A42P-10A-01D-A23U-08 g.chr19:40710488G>A c.960G>A c.(958-960)ctG>ctA p.L320L BLCA 19 40710537 40710537 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 g.chr19:40710537G>A c.1009G>A c.(1009-1011)Gag>Aag p.E337K BLCA 19 40715101 40715101 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr19:40715101C>T c.1527C>T c.(1525-1527)atC>atT p.I509I BLCA 19 40715101 40715101 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 g.chr19:40715101C>T c.1527C>T c.(1525-1527)atC>atT p.I509I BLCA 19 40715113 40715113 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 g.chr19:40715113G>A c.1539G>A c.(1537-1539)ctG>ctA p.L513L BLCA 19 40720904 40720904 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chr19:40720904G>A c.2570G>A c.(2569-2571)cGc>cAc p.R857H BRCA 19 40698484 40698484 + Silent SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr19:40698484G>A c.546G>A c.(544-546)ctG>ctA p.L182L BRCA 19 40704438 40704438 + Missense_Mutation SNP T T A TCGA-A2-A0CX-01A-21W-A019-09 TCGA-A2-A0CX-10A-01W-A021-09 g.chr19:40704438T>A c.839T>A c.(838-840)tTc>tAc p.F280Y BRCA 19 40711935 40711935 + Missense_Mutation SNP C C T TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 g.chr19:40711935C>T c.1306C>T c.(1306-1308)Cgg>Tgg p.R436W BRCA 19 40720993 40720993 + Missense_Mutation SNP C C G TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 g.chr19:40720993C>G c.2659C>G c.(2659-2661)Cct>Gct p.P887A CESC 19 40698214 40698214 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr19:40698214G>A c.276G>A c.(274-276)gaG>gaA p.E92E CESC 19 40698542 40698542 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr19:40698542C>G c.604C>G c.(604-606)Cag>Gag p.Q202E CESC 19 40710431 40710431 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr19:40710431C>T c.903C>T c.(901-903)gtC>gtT p.V301V CESC 19 40711973 40711973 + Silent SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 g.chr19:40711973G>A c.1344G>A c.(1342-1344)gaG>gaA p.E448E CESC 19 40720877 40720877 + Splice_Site SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 g.chr19:40720877G>A c.2543G>A c.(2542-2544)gGc>gAc p.G848D COAD 19 40698414 40698414 + Missense_Mutation SNP C C T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr19:40698414C>T c.476C>T c.(475-477)gCc>gTc p.A159V COAD 19 40704385 40704385 + Silent SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr19:40704385C>T c.786C>T c.(784-786)agC>agT p.S262S COAD 19 40710396 40710396 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr19:40710396G>A c.868G>A c.(868-870)Ggg>Agg p.G290R COAD 19 40711190 40711190 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr19:40711190G>A c.1175G>A c.(1174-1176)cGg>cAg p.R392Q COAD 19 40712017 40712017 + Missense_Mutation SNP G G A TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr19:40712017G>A c.1388G>A c.(1387-1389)cGc>cAc p.R463H COAD 19 40715080 40715080 + Frame_Shift_Del DEL C C - TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr19:40715080delC c.1506delC c.(1504-1506)agcfs p.S502fs COAD 19 40715080 40715080 + Frame_Shift_Del DEL C C - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr19:40715080delC c.1506delC c.(1504-1506)agcfs p.S502fs COAD 19 40719462 40719462 + Frame_Shift_Del DEL C C - TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr19:40719462delC c.1876delC c.(1876-1878)cccfs p.P627fs COAD 19 40719501 40719501 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr19:40719501C>T c.1915C>T c.(1915-1917)Cca>Tca p.P639S COAD 19 40720989 40720989 + Silent SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr19:40720989G>A c.2655G>A c.(2653-2655)ccG>ccA p.P885P COAD 19 40721142 40721142 + Missense_Mutation SNP G G A TCGA-DM-A1D6-01A-21D-A152-10 TCGA-DM-A1D6-10A-01D-A152-10 g.chr19:40721142G>A c.2808G>A c.(2806-2808)atG>atA p.M936I COAD 19 40721144 40721145 + Frame_Shift_Ins INS - - G TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr19:40721144_40721145insG c.2810_2811insG c.(2809-2814)gaggggfs p.EG937fs COADREAD 19 40698414 40698414 + Missense_Mutation SNP C C T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr19:40698414C>T c.476C>T c.(475-477)gCc>gTc p.A159V COADREAD 19 40704296 40704296 + Missense_Mutation SNP G G A TCGA-AG-3726-01A-02W-0899-10 TCGA-AG-3726-10A-01W-0901-10 g.chr19:40704296G>A c.697G>A c.(697-699)Gcc>Acc p.A233T COADREAD 19 40704385 40704385 + Silent SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr19:40704385C>T c.786C>T c.(784-786)agC>agT p.S262S COADREAD 19 40710396 40710396 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr19:40710396G>A c.868G>A c.(868-870)Ggg>Agg p.G290R COADREAD 19 40711125 40711125 + Silent SNP G G A TCGA-AG-3599-01A-02W-0833-10 TCGA-AG-3599-10A-01W-0833-10 g.chr19:40711125G>A c.1110G>A c.(1108-1110)ctG>ctA p.L370L COADREAD 19 40711190 40711190 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr19:40711190G>A c.1175G>A c.(1174-1176)cGg>cAg p.R392Q COADREAD 19 40712017 40712017 + Missense_Mutation SNP G G A TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr19:40712017G>A c.1388G>A c.(1387-1389)cGc>cAc p.R463H COADREAD 19 40715080 40715080 + Frame_Shift_Del DEL C C - TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr19:40715080delC c.1506delC c.(1504-1506)agcfs p.S502fs COADREAD 19 40715080 40715080 + Frame_Shift_Del DEL C C - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr19:40715080delC c.1506delC c.(1504-1506)agcfs p.S502fs COADREAD 19 40719462 40719462 + Frame_Shift_Del DEL C C - TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr19:40719462delC c.1876delC c.(1876-1878)cccfs p.P627fs COADREAD 19 40719501 40719501 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr19:40719501C>T c.1915C>T c.(1915-1917)Cca>Tca p.P639S COADREAD 19 40720989 40720989 + Silent SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr19:40720989G>A c.2655G>A c.(2653-2655)ccG>ccA p.P885P COADREAD 19 40721142 40721142 + Missense_Mutation SNP G G A TCGA-DM-A1D6-01A-21D-A152-10 TCGA-DM-A1D6-10A-01D-A152-10 g.chr19:40721142G>A c.2808G>A c.(2806-2808)atG>atA p.M936I COADREAD 19 40721144 40721145 + Frame_Shift_Ins INS - - G TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr19:40721144_40721145insG c.2810_2811insG c.(2809-2814)gaggggfs p.EG937fs DLBC 19 40712040 40712040 + Missense_Mutation SNP G G A TCGA-GR-7353-01A-11D-2210-10 TCGA-GR-7353-10A-01D-2210-10 g.chr19:40712040G>A c.1411G>A c.(1411-1413)Ggc>Agc p.G471S ESCA 19 40698370 40698370 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 g.chr19:40698370G>T c.432G>T c.(430-432)caG>caT p.Q144H ESCA 19 40710471 40710471 + Missense_Mutation SNP G G A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 g.chr19:40710471G>A c.943G>A c.(943-945)Gtg>Atg p.V315M ESCA 19 40711051 40711051 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 g.chr19:40711051G>T c.1036G>T c.(1036-1038)Ggg>Tgg p.G346W ESCA 19 40718833 40718833 + Silent SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 g.chr19:40718833G>T c.1674G>T c.(1672-1674)acG>acT p.T558T ESCA 19 40721128 40721128 + Missense_Mutation SNP C C A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 g.chr19:40721128C>A c.2794C>A c.(2794-2796)Ctg>Atg p.L932M GBMLGG 19 40715068 40715068 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:40715068C>T c.1494C>T c.(1492-1494)tcC>tcT p.S498S GBMLGG 19 40719044 40719044 + Missense_Mutation SNP T T C TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 g.chr19:40719044T>C c.1786T>C c.(1786-1788)Tcc>Ccc p.S596P HNSC 19 40698342 40698342 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr19:40698342C>T c.404C>T c.(403-405)cCg>cTg p.P135L HNSC 19 40698536 40698536 + Missense_Mutation SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 g.chr19:40698536G>A c.598G>A c.(598-600)Gct>Act p.A200T HNSC 19 40704301 40704301 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr19:40704301C>T c.702C>T c.(700-702)atC>atT p.I234I HNSC 19 40704316 40704316 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 g.chr19:40704316C>T c.717C>T c.(715-717)ctC>ctT p.L239L HNSC 19 40710471 40710471 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 g.chr19:40710471G>A c.943G>A c.(943-945)Gtg>Atg p.V315M HNSC 19 40715015 40715015 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 g.chr19:40715015G>C c.1441G>C c.(1441-1443)Gag>Cag p.E481Q HNSC 19 40715068 40715068 + Silent SNP C C T TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 g.chr19:40715068C>T c.1494C>T c.(1492-1494)tcC>tcT p.S498S HNSC 19 40718876 40718876 + Missense_Mutation SNP G G C TCGA-CV-A45U-01A-12D-A24D-08 TCGA-CV-A45U-10A-01D-A24F-08 g.chr19:40718876G>C c.1717G>C c.(1717-1719)Gag>Cag p.E573Q KICH 19 40719458 40719458 + Silent SNP C C T TCGA-KM-8442-01A-11D-2310-10 TCGA-KM-8442-10A-01D-2311-10 g.chr19:40719458C>T c.1872C>T c.(1870-1872)agC>agT p.S624S KIPAN 19 40698258 40698258 + Missense_Mutation SNP G G T TCGA-BP-4790-01A-01D-1373-10 TCGA-BP-4790-11A-01D-1373-10 g.chr19:40698258G>T c.320G>T c.(319-321)gGg>gTg p.G107V KIPAN 19 40698281 40698281 + Missense_Mutation SNP G G T TCGA-HE-A5NJ-01A-11D-A26P-10 TCGA-HE-A5NJ-10A-01D-A26P-10 g.chr19:40698281G>T c.343G>T c.(343-345)Gcc>Tcc p.A115S KIPAN 19 40698354 40698354 + Missense_Mutation SNP C C A TCGA-B8-4153-01B-11D-1669-08 TCGA-B8-4153-11A-01D-1669-08 g.chr19:40698354C>A c.416C>A c.(415-417)gCg>gAg p.A139E KIPAN 19 40719458 40719458 + Silent SNP C C T TCGA-KM-8442-01A-11D-2310-10 TCGA-KM-8442-10A-01D-2311-10 g.chr19:40719458C>T c.1872C>T c.(1870-1872)agC>agT p.S624S KIPAN 19 40720964 40720964 + Missense_Mutation SNP G G T TCGA-CJ-6028-01A-11D-1669-08 TCGA-CJ-6028-11A-01D-1669-08 g.chr19:40720964G>T c.2630G>T c.(2629-2631)cGc>cTc p.R877L KIPAN 19 40721175 40721175 + Silent SNP G G C TCGA-5P-A9KA-01A-11D-A42J-10 TCGA-5P-A9KA-10A-01D-A42M-10 g.chr19:40721175G>C c.2841G>C c.(2839-2841)ctG>ctC p.L947L KIRC 19 40698258 40698258 + Missense_Mutation SNP G G T TCGA-BP-4790-01A-01D-1373-10 TCGA-BP-4790-11A-01D-1373-10 g.chr19:40698258G>T c.320G>T c.(319-321)gGg>gTg p.G107V KIRC 19 40698354 40698354 + Missense_Mutation SNP C C A TCGA-B8-4153-01B-11D-1669-08 TCGA-B8-4153-11A-01D-1669-08 g.chr19:40698354C>A c.416C>A c.(415-417)gCg>gAg p.A139E KIRC 19 40720964 40720964 + Missense_Mutation SNP G G T TCGA-CJ-6028-01A-11D-1669-08 TCGA-CJ-6028-11A-01D-1669-08 g.chr19:40720964G>T c.2630G>T c.(2629-2631)cGc>cTc p.R877L KIRP 19 40698281 40698281 + Missense_Mutation SNP G G T TCGA-HE-A5NJ-01A-11D-A26P-10 TCGA-HE-A5NJ-10A-01D-A26P-10 g.chr19:40698281G>T c.343G>T c.(343-345)Gcc>Tcc p.A115S KIRP 19 40721175 40721175 + Silent SNP G G C TCGA-5P-A9KA-01A-11D-A42J-10 TCGA-5P-A9KA-10A-01D-A42M-10 g.chr19:40721175G>C c.2841G>C c.(2839-2841)ctG>ctC p.L947L LGG 19 40715068 40715068 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:40715068C>T c.1494C>T c.(1492-1494)tcC>tcT p.S498S LGG 19 40719044 40719044 + Missense_Mutation SNP T T C TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 g.chr19:40719044T>C c.1786T>C c.(1786-1788)Tcc>Ccc p.S596P LIHC 19 40698304 40698304 + Silent SNP G G A TCGA-DD-A4NB-01A-12D-A25V-10 TCGA-DD-A4NB-11A-11D-A25V-10 g.chr19:40698304G>A c.366G>A c.(364-366)gtG>gtA p.V122V LIHC 19 40704415 40704415 + Silent SNP G G A TCGA-DD-A11D-01A-11D-A12Z-10 TCGA-DD-A11D-11A-12D-A12Z-10 g.chr19:40704415G>A c.816G>A c.(814-816)ccG>ccA p.P272P LIHC 19 40715117 40715117 + Missense_Mutation SNP G G A TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr19:40715117G>A c.1543G>A c.(1543-1545)Gcc>Acc p.A515T LUAD 19 40698168 40698168 + Frame_Shift_Del DEL C C - TCGA-75-5125-01A-01D-1753-08 TCGA-75-5125-10A-01D-1753-08 g.chr19:40698168delC c.230delC c.(229-231)gccfs p.A77fs LUAD 19 40704286 40704286 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 g.chr19:40704286G>T c.687G>T c.(685-687)ctG>ctT p.L229L LUAD 19 40710420 40710421 + Frame_Shift_Ins INS - - C TCGA-L9-A443-01A-12D-A24D-08 TCGA-L9-A443-10A-01D-A24F-08 g.chr19:40710420_40710421insC c.892_893insC c.(892-894)acgfs p.T298fs LUAD 19 40710443 40710443 + Silent SNP G G A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 g.chr19:40710443G>A c.915G>A c.(913-915)gaG>gaA p.E305E LUAD 19 40710446 40710446 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 g.chr19:40710446C>T c.918C>T c.(916-918)atC>atT p.I306I LUAD 19 40710509 40710509 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr19:40710509G>T c.981G>T c.(979-981)acG>acT p.T327T LUAD 19 40711891 40711891 + Missense_Mutation SNP G G T TCGA-97-7546-01A-11D-2036-08 TCGA-97-7546-10A-01D-2036-08 g.chr19:40711891G>T c.1262G>T c.(1261-1263)cGg>cTg p.R421L LUAD 19 40712040 40712040 + Missense_Mutation SNP G G T TCGA-NJ-A4YG-01A-22D-A25L-08 TCGA-NJ-A4YG-10A-01D-A25L-08 g.chr19:40712040G>T c.1411G>T c.(1411-1413)Ggc>Tgc p.G471C OV 19 40704297 40704297 + Missense_Mutation SNP C C A TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 g.chr19:40704297C>A c.698C>A c.(697-699)gCc>gAc p.A233D OV 19 40711187 40711187 + Missense_Mutation SNP T T C TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 g.chr19:40711187T>C c.1172T>C c.(1171-1173)cTt>cCt p.L391P OV 19 40720904 40720904 + Missense_Mutation SNP G G A TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 g.chr19:40720904G>A c.2570G>A c.(2569-2571)cGc>cAc p.R857H PAAD 19 40697941 40697943 + Start_Codon_Del DEL GGA GGA - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 g.chr19:40697941_40697943delGGA PAAD 19 40711993 40711993 + Missense_Mutation SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 g.chr19:40711993G>A c.1364G>A c.(1363-1365)cGc>cAc p.R455H PAAD 19 40719444 40719444 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:40719444G>A c.1858G>A c.(1858-1860)Gat>Aat p.D620N PCPG 19 40719906 40719917 + In_Frame_Del DEL CCCTCCCCACCA CCCTCCCCACCA - TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 g.chr19:40719906_40719917delCCCTCCCCACCA c.2320_2331delCCCTCCCCACCA c.(2320-2331)ccctccccaccadel p.PSPP778del PRAD 19 40698519 40698519 + Missense_Mutation SNP A A G TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 g.chr19:40698519A>G c.581A>G c.(580-582)cAc>cGc p.H194R PRAD 19 40711065 40711065 + Silent SNP C C T TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr19:40711065C>T c.1050C>T c.(1048-1050)ttC>ttT p.F350F PRAD 19 40715127 40715127 + Splice_Site SNP G G A TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 g.chr19:40715127G>A c.e6+1 PRAD 19 40719433 40719433 + Missense_Mutation SNP C C T TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr19:40719433C>T c.1847C>T c.(1846-1848)gCg>gTg p.A616V PRAD 19 40720904 40720904 + Missense_Mutation SNP G G A TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr19:40720904G>A c.2570G>A c.(2569-2571)cGc>cAc p.R857H READ 19 40704296 40704296 + Missense_Mutation SNP G G A TCGA-AG-3726-01A-02W-0899-10 TCGA-AG-3726-10A-01W-0901-10 g.chr19:40704296G>A c.697G>A c.(697-699)Gcc>Acc p.A233T READ 19 40711125 40711125 + Silent SNP G G A TCGA-AG-3599-01A-02W-0833-10 TCGA-AG-3599-10A-01W-0833-10 g.chr19:40711125G>A c.1110G>A c.(1108-1110)ctG>ctA p.L370L SARC 19 40711137 40711137 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr19:40711137C>T c.1122C>T c.(1120-1122)caC>caT p.H374H SARC 19 40721091 40721091 + Silent SNP G G A TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 g.chr19:40721091G>A c.2757G>A c.(2755-2757)ccG>ccA p.P919P SKCM 19 40698283 40698283 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:40698283C>T c.345C>T c.(343-345)gcC>gcT p.A115A SKCM 19 40698476 40698476 + Missense_Mutation SNP G G A TCGA-FS-A4FD-06A-11D-A25O-08 TCGA-FS-A4FD-10B-01D-A25O-08 g.chr19:40698476G>A c.538G>A c.(538-540)Ggt>Agt p.G180S SKCM 19 40698477 40698477 + Missense_Mutation SNP G G A TCGA-FS-A4FD-06A-11D-A25O-08 TCGA-FS-A4FD-10B-01D-A25O-08 g.chr19:40698477G>A c.539G>A c.(538-540)gGt>gAt p.G180D SKCM 19 40698547 40698547 + Silent SNP G G T TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr19:40698547G>T c.609G>T c.(607-609)gtG>gtT p.V203V SKCM 19 40704302 40704302 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 g.chr19:40704302G>A c.703G>A c.(703-705)Gag>Aag p.E235K SKCM 19 40710533 40710533 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 g.chr19:40710533C>T c.1005C>T c.(1003-1005)ctC>ctT p.L335L SKCM 19 40711082 40711082 + Missense_Mutation SNP G G C TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr19:40711082G>C c.1067G>C c.(1066-1068)cGg>cCg p.R356P SKCM 19 40715033 40715033 + Missense_Mutation SNP C C G TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr19:40715033C>G c.1459C>G c.(1459-1461)Cag>Gag p.Q487E SKCM 19 40715072 40715072 + Missense_Mutation SNP G G A TCGA-EB-A5UN-06A-11D-A30X-08 TCGA-EB-A5UN-10A-01D-A30X-08 g.chr19:40715072G>A c.1498G>A c.(1498-1500)Ggg>Agg p.G500R SKCM 19 40715123 40715123 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 g.chr19:40715123C>T c.1549C>T c.(1549-1551)Cgc>Tgc p.R517C SKCM 19 40718847 40718847 + Missense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr19:40718847C>T c.1688C>T c.(1687-1689)tCc>tTc p.S563F SKCM 19 40719021 40719021 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 g.chr19:40719021C>T c.1763C>T c.(1762-1764)tCa>tTa p.S588L SKCM 19 40719064 40719064 + Silent SNP C C T TCGA-ER-A2NC-06A-11D-A197-08 TCGA-ER-A2NC-10A-01D-A199-08 g.chr19:40719064C>T c.1806C>T c.(1804-1806)atC>atT p.I602I SKCM 19 40719431 40719431 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:40719431C>T c.1845C>T c.(1843-1845)ttC>ttT p.F615F SKCM 19 40719487 40719487 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr19:40719487C>T c.1901C>T c.(1900-1902)tCc>tTc p.S634F SKCM 19 40719516 40719516 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:40719516C>T c.1930C>T c.(1930-1932)Ccc>Tcc p.P644S SKCM 19 40719522 40719522 + Missense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr19:40719522C>T c.1936C>T c.(1936-1938)Ccg>Tcg p.P646S SKCM 19 40719928 40719928 + Missense_Mutation SNP C C T TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chr19:40719928C>T c.2342C>T c.(2341-2343)cCc>cTc p.P781L SKCM 19 40719929 40719929 + Silent SNP C C T TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chr19:40719929C>T c.2343C>T c.(2341-2343)ccC>ccT p.P781P SKCM 19 40720917 40720917 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr19:40720917C>T c.2583C>T c.(2581-2583)ccC>ccT p.P861P SKCM 19 40720929 40720929 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr19:40720929C>T c.2595C>T c.(2593-2595)ttC>ttT p.F865F SKCM 19 40720956 40720956 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:40720956C>T c.2622C>T c.(2620-2622)ttC>ttT p.F874F SKCM 19 40721043 40721043 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 g.chr19:40721043C>T c.2709C>T c.(2707-2709)tcC>tcT p.S903S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 19 40710542 40710542 single base substitution T G downstream_gene_variant BLCA-CN 19 40710542 40710542 single base substitution T G exon_variant BLCA-CN 19 40710542 40710542 single base substitution T G intron_variant BLCA-CN 19 40710542 40710542 single base substitution T G splice_donor_variant BLCA-CN 19 40710542 40710542 single base substitution T G upstream_gene_variant BLCA-CN 19 40719024 40719024 single base substitution G A 3_prime_UTR_variant BLCA-CN 19 40719024 40719024 single base substitution G A downstream_gene_variant BLCA-CN 19 40719024 40719024 single base substitution G A exon_variant BLCA-CN 19 40719024 40719024 single base substitution G A missense_variant S589N 1766G>A BLCA-CN 19 40722151 40722151 single base substitution C T downstream_gene_variant BLCA-CN 19 40724034 40724034 single base substitution G A downstream_gene_variant BLCA-US 19 40710537 40710537 single base substitution G A downstream_gene_variant BLCA-US 19 40710537 40710537 single base substitution G A exon_variant BLCA-US 19 40710537 40710537 single base substitution G A intron_variant BLCA-US 19 40710537 40710537 single base substitution G A missense_variant E337K 1009G>A BLCA-US 19 40710537 40710537 single base substitution G A upstream_gene_variant BLCA-US 19 40715101 40715101 single base substitution C T 3_prime_UTR_variant BLCA-US 19 40715101 40715101 single base substitution C T downstream_gene_variant BLCA-US 19 40715101 40715101 single base substitution C T exon_variant BLCA-US 19 40715101 40715101 single base substitution C T synonymous_variant I509I 1527C>T BLCA-US 19 40722099 40722099 single base substitution C T downstream_gene_variant BRCA-EU 19 40694839 40694839 single base substitution G C upstream_gene_variant BRCA-EU 19 40695078 40695078 single base substitution G A upstream_gene_variant BRCA-EU 19 40695882 40695882 single base substitution G C upstream_gene_variant BRCA-EU 19 40696202 40696202 single base substitution G A upstream_gene_variant BRCA-EU 19 40697168 40697168 single base substitution G C upstream_gene_variant BRCA-EU 19 40697614 40697614 single base substitution G C upstream_gene_variant BRCA-EU 19 40697998 40697998 single base substitution C G synonymous_variant V20V 60C>G BRCA-EU 19 40697998 40697998 single base substitution C G upstream_gene_variant BRCA-EU 19 40699996 40699996 single base substitution G A intron_variant BRCA-EU 19 40699996 40699996 single base substitution G A upstream_gene_variant BRCA-EU 19 40700020 40700020 single base substitution C T intron_variant BRCA-EU 19 40700020 40700020 single base substitution C T upstream_gene_variant BRCA-EU 19 40700588 40700588 single base substitution C T intron_variant BRCA-EU 19 40700588 40700588 single base substitution C T upstream_gene_variant BRCA-EU 19 40700755 40700755 single base substitution G A intron_variant BRCA-EU 19 40700755 40700755 single base substitution G A upstream_gene_variant BRCA-EU 19 40700874 40700874 single base substitution A G intron_variant BRCA-EU 19 40700874 40700874 single base substitution A G upstream_gene_variant BRCA-EU 19 40701438 40701438 single base substitution T C intron_variant BRCA-EU 19 40701438 40701438 single base substitution T C upstream_gene_variant BRCA-EU 19 40705140 40705140 single base substitution G C intron_variant BRCA-EU 19 40705235 40705235 single base substitution A C intron_variant BRCA-EU 19 40705662 40705662 single base substitution G T intron_variant BRCA-EU 19 40705662 40705662 single base substitution G T upstream_gene_variant BRCA-EU 19 40706764 40706764 single base substitution G A intron_variant BRCA-EU 19 40706764 40706764 single base substitution G A upstream_gene_variant BRCA-EU 19 40706805 40706805 single base substitution C G intron_variant BRCA-EU 19 40706805 40706805 single base substitution C G upstream_gene_variant BRCA-EU 19 40709068 40709068 single base substitution G A intron_variant BRCA-EU 19 40709068 40709068 single base substitution G A upstream_gene_variant BRCA-EU 19 40710955 40710955 single base substitution G C downstream_gene_variant BRCA-EU 19 40710955 40710955 single base substitution G C exon_variant BRCA-EU 19 40710955 40710955 single base substitution G C intron_variant BRCA-EU 19 40710955 40710955 single base substitution G C upstream_gene_variant BRCA-EU 19 40711396 40711396 single base substitution A C downstream_gene_variant BRCA-EU 19 40711396 40711396 single base substitution A C intron_variant BRCA-EU 19 40711396 40711396 single base substitution A C upstream_gene_variant BRCA-EU 19 40712323 40712323 single base substitution A T downstream_gene_variant BRCA-EU 19 40712323 40712323 single base substitution A T intron_variant BRCA-EU 19 40712323 40712323 single base substitution A T upstream_gene_variant BRCA-EU 19 40712793 40712793 single base substitution G C downstream_gene_variant BRCA-EU 19 40712793 40712793 single base substitution G C intron_variant BRCA-EU 19 40712793 40712793 single base substitution G C upstream_gene_variant BRCA-EU 19 40715014 40715014 single base substitution T G 3_prime_UTR_variant BRCA-EU 19 40715014 40715014 single base substitution T G downstream_gene_variant BRCA-EU 19 40715014 40715014 single base substitution T G exon_variant BRCA-EU 19 40715014 40715014 single base substitution T G missense_variant F480L 1440T>G BRCA-EU 19 40715014 40715014 single base substitution T G upstream_gene_variant BRCA-EU 19 40716173 40716173 single base substitution C G downstream_gene_variant BRCA-EU 19 40716173 40716173 single base substitution C G intron_variant BRCA-EU 19 40716638 40716638 single base substitution G C downstream_gene_variant BRCA-EU 19 40716638 40716638 single base substitution G C intron_variant BRCA-EU 19 40716824 40716824 single base substitution T A downstream_gene_variant BRCA-EU 19 40716824 40716824 single base substitution T A intron_variant BRCA-EU 19 40717206 40717206 single base substitution G T downstream_gene_variant BRCA-EU 19 40717206 40717206 single base substitution G T intron_variant BRCA-EU 19 40717682 40717682 single base substitution G C downstream_gene_variant BRCA-EU 19 40717682 40717682 single base substitution G C intron_variant BRCA-EU 19 40717914 40717914 single base substitution G C downstream_gene_variant BRCA-EU 19 40717914 40717914 single base substitution G C intron_variant BRCA-EU 19 40718451 40718451 single base substitution G C downstream_gene_variant BRCA-EU 19 40718451 40718451 single base substitution G C intron_variant BRCA-EU 19 40719219 40719219 single base substitution G C downstream_gene_variant BRCA-EU 19 40719219 40719219 single base substitution G C exon_variant BRCA-EU 19 40719219 40719219 single base substitution G C intron_variant BRCA-EU 19 40721329 40721329 deletion of <=200bp G - 3_prime_UTR_variant BRCA-EU 19 40721329 40721329 deletion of <=200bp G - downstream_gene_variant BRCA-EU 19 40722971 40722971 single base substitution G T downstream_gene_variant BRCA-EU 19 40723253 40723253 single base substitution C A downstream_gene_variant BRCA-EU 19 40724950 40724950 single base substitution C A downstream_gene_variant BRCA-EU 19 40725754 40725754 single base substitution C G downstream_gene_variant BRCA-EU 19 40725774 40725774 single base substitution C T downstream_gene_variant BRCA-FR 19 40694839 40694839 single base substitution G C upstream_gene_variant BRCA-FR 19 40695078 40695078 single base substitution G A upstream_gene_variant BRCA-FR 19 40697998 40697998 single base substitution C G synonymous_variant V20V 60C>G BRCA-FR 19 40697998 40697998 single base substitution C G upstream_gene_variant BRCA-FR 19 40718451 40718451 single base substitution G C downstream_gene_variant BRCA-FR 19 40718451 40718451 single base substitution G C intron_variant BRCA-FR 19 40722639 40722639 single base substitution A C downstream_gene_variant BRCA-KR 19 40722180 40722180 single base substitution C T downstream_gene_variant BRCA-UK 19 40716824 40716824 single base substitution T A downstream_gene_variant BRCA-UK 19 40716824 40716824 single base substitution T A intron_variant BRCA-US 19 40698484 40698484 single base substitution G A intron_variant BRCA-US 19 40698484 40698484 single base substitution G A synonymous_variant L182L 546G>A BRCA-US 19 40704438 40704438 single base substitution T A exon_variant BRCA-US 19 40704438 40704438 single base substitution T A intron_variant BRCA-US 19 40704438 40704438 single base substitution T A missense_variant F280Y 839T>A BRCA-US 19 40711935 40711935 single base substitution C T 3_prime_UTR_variant BRCA-US 19 40711935 40711935 single base substitution C T downstream_gene_variant BRCA-US 19 40711935 40711935 single base substitution C T exon_variant BRCA-US 19 40711935 40711935 single base substitution C T intron_variant BRCA-US 19 40711935 40711935 single base substitution C T missense_variant R436W 1306C>T BRCA-US 19 40711935 40711935 single base substitution C T upstream_gene_variant BRCA-US 19 40720993 40720993 single base substitution C G 3_prime_UTR_variant BRCA-US 19 40720993 40720993 single base substitution C G downstream_gene_variant BRCA-US 19 40720993 40720993 single base substitution C G missense_variant P887A 2659C>G BRCA-US 19 40723221 40723221 single base substitution G C downstream_gene_variant BTCA-JP 19 40704347 40704347 single base substitution G A exon_variant BTCA-JP 19 40704347 40704347 single base substitution G A missense_variant G250S 748G>A BTCA-JP 19 40704347 40704347 single base substitution G A upstream_gene_variant BTCA-JP 19 40704352 40704352 single base substitution C T exon_variant BTCA-JP 19 40704352 40704352 single base substitution C T synonymous_variant L251L 753C>T BTCA-JP 19 40704389 40704389 single base substitution G A exon_variant BTCA-JP 19 40704389 40704389 single base substitution G A missense_variant A264T 790G>A BTCA-JP 19 40710421 40710421 single base substitution C T exon_variant BTCA-JP 19 40710421 40710421 single base substitution C T intron_variant BTCA-JP 19 40710421 40710421 single base substitution C T missense_variant T298M 893C>T BTCA-JP 19 40710421 40710421 single base substitution C T upstream_gene_variant BTCA-JP 19 40711051 40711051 single base substitution G A downstream_gene_variant BTCA-JP 19 40711051 40711051 single base substitution G A exon_variant BTCA-JP 19 40711051 40711051 single base substitution G A missense_variant G346R 1036G>A BTCA-JP 19 40711051 40711051 single base substitution G A upstream_gene_variant BTCA-JP 19 40719458 40719458 single base substitution C T 3_prime_UTR_variant BTCA-JP 19 40719458 40719458 single base substitution C T downstream_gene_variant BTCA-JP 19 40719458 40719458 single base substitution C T exon_variant BTCA-JP 19 40719458 40719458 single base substitution C T synonymous_variant S624S 1872C>T BTCA-JP 19 40720019 40720019 single base substitution G A 3_prime_UTR_variant BTCA-JP 19 40720019 40720019 single base substitution G A downstream_gene_variant BTCA-JP 19 40720019 40720019 single base substitution G A synonymous_variant T811T 2433G>A BTCA-JP 19 40720749 40720749 single base substitution T G downstream_gene_variant BTCA-JP 19 40720749 40720749 single base substitution T G intron_variant BTCA-JP 19 40720804 40720804 single base substitution T C downstream_gene_variant BTCA-JP 19 40720804 40720804 single base substitution T C intron_variant BTCA-JP 19 40720989 40720989 single base substitution G A 3_prime_UTR_variant BTCA-JP 19 40720989 40720989 single base substitution G A downstream_gene_variant BTCA-JP 19 40720989 40720989 single base substitution G A synonymous_variant P885P 2655G>A BTCA-JP 19 40721121 40721121 single base substitution C T 3_prime_UTR_variant BTCA-JP 19 40721121 40721121 single base substitution C T downstream_gene_variant BTCA-JP 19 40721121 40721121 single base substitution C T synonymous_variant P929P 2787C>T BTCA-JP 19 40723115 40723115 single base substitution C T downstream_gene_variant CESC-US 19 40698214 40698214 single base substitution G A exon_variant CESC-US 19 40698214 40698214 single base substitution G A synonymous_variant E92E 276G>A CESC-US 19 40698542 40698542 single base substitution C G missense_variant Q202E 604C>G CESC-US 19 40698542 40698542 single base substitution C G splice_region_variant CESC-US 19 40710431 40710431 single base substitution C T exon_variant CESC-US 19 40710431 40710431 single base substitution C T intron_variant CESC-US 19 40710431 40710431 single base substitution C T synonymous_variant V301V 903C>T CESC-US 19 40710431 40710431 single base substitution C T upstream_gene_variant CESC-US 19 40711973 40711973 single base substitution G A 3_prime_UTR_variant CESC-US 19 40711973 40711973 single base substitution G A downstream_gene_variant CESC-US 19 40711973 40711973 single base substitution G A exon_variant CESC-US 19 40711973 40711973 single base substitution G A intron_variant CESC-US 19 40711973 40711973 single base substitution G A synonymous_variant E448E 1344G>A CESC-US 19 40711973 40711973 single base substitution G A upstream_gene_variant CESC-US 19 40720877 40720877 single base substitution G A downstream_gene_variant CESC-US 19 40720877 40720877 single base substitution G A missense_variant G848D 2543G>A CESC-US 19 40720877 40720877 single base substitution G A splice_region_variant CESC-US 19 40723221 40723221 single base substitution G C downstream_gene_variant CLLE-ES 19 40723142 40723142 single base substitution C T downstream_gene_variant COAD-US 19 40704317 40704317 single base substitution G A exon_variant COAD-US 19 40704317 40704317 single base substitution G A missense_variant A240T 718G>A COAD-US 19 40704317 40704317 single base substitution G A upstream_gene_variant COAD-US 19 40704385 40704385 single base substitution C T exon_variant COAD-US 19 40704385 40704385 single base substitution C T synonymous_variant S262S 786C>T COAD-US 19 40711190 40711190 single base substitution G A 3_prime_UTR_variant COAD-US 19 40711190 40711190 single base substitution G A downstream_gene_variant COAD-US 19 40711190 40711190 single base substitution G A exon_variant COAD-US 19 40711190 40711190 single base substitution G A missense_variant R392Q 1175G>A COAD-US 19 40711190 40711190 single base substitution G A upstream_gene_variant COAD-US 19 40712010 40712010 single base substitution C T 3_prime_UTR_variant COAD-US 19 40712010 40712010 single base substitution C T downstream_gene_variant COAD-US 19 40712010 40712010 single base substitution C T exon_variant COAD-US 19 40712010 40712010 single base substitution C T intron_variant COAD-US 19 40712010 40712010 single base substitution C T missense_variant R461C 1381C>T COAD-US 19 40712010 40712010 single base substitution C T upstream_gene_variant COAD-US 19 40715080 40715080 deletion of <=200bp C - 3_prime_UTR_variant COAD-US 19 40715080 40715080 deletion of <=200bp C - downstream_gene_variant COAD-US 19 40715080 40715080 deletion of <=200bp C - exon_variant COAD-US 19 40715080 40715080 deletion of <=200bp C - frameshift_variant S502 COAD-US 19 40719462 40719462 deletion of <=200bp C - 3_prime_UTR_variant COAD-US 19 40719462 40719462 deletion of <=200bp C - downstream_gene_variant COAD-US 19 40719462 40719462 deletion of <=200bp C - exon_variant COAD-US 19 40719462 40719462 deletion of <=200bp C - frameshift_variant P626 COAD-US 19 40719501 40719501 single base substitution C T 3_prime_UTR_variant COAD-US 19 40719501 40719501 single base substitution C T downstream_gene_variant COAD-US 19 40719501 40719501 single base substitution C T exon_variant COAD-US 19 40719501 40719501 single base substitution C T missense_variant P639S 1915C>T COAD-US 19 40720079 40720079 single base substitution C T 3_prime_UTR_variant COAD-US 19 40720079 40720079 single base substitution C T downstream_gene_variant COAD-US 19 40720079 40720079 single base substitution C T synonymous_variant D831D 2493C>T COAD-US 19 40720989 40720989 single base substitution G A 3_prime_UTR_variant COAD-US 19 40720989 40720989 single base substitution G A downstream_gene_variant COAD-US 19 40720989 40720989 single base substitution G A synonymous_variant P885P 2655G>A COAD-US 19 40721142 40721142 single base substitution G A 3_prime_UTR_variant COAD-US 19 40721142 40721142 single base substitution G A downstream_gene_variant COAD-US 19 40721142 40721142 single base substitution G A missense_variant M936I 2808G>A COAD-US 19 40721144 40721144 insertion of <=200bp - G 3_prime_UTR_variant COAD-US 19 40721144 40721144 insertion of <=200bp - G downstream_gene_variant COAD-US 19 40721144 40721144 insertion of <=200bp - G frameshift_variant E937G? COCA-CN 19 40697995 40697995 single base substitution C T synonymous_variant P19P 57C>T COCA-CN 19 40697995 40697995 single base substitution C T upstream_gene_variant COCA-CN 19 40711176 40711176 single base substitution G A 3_prime_UTR_variant COCA-CN 19 40711176 40711176 single base substitution G A downstream_gene_variant COCA-CN 19 40711176 40711176 single base substitution G A exon_variant COCA-CN 19 40711176 40711176 single base substitution G A missense_variant M387I 1161G>A COCA-CN 19 40711176 40711176 single base substitution G A upstream_gene_variant COCA-CN 19 40711899 40711899 single base substitution C T 3_prime_UTR_variant COCA-CN 19 40711899 40711899 single base substitution C T downstream_gene_variant COCA-CN 19 40711899 40711899 single base substitution C T exon_variant COCA-CN 19 40711899 40711899 single base substitution C T intron_variant COCA-CN 19 40711899 40711899 single base substitution C T stop_gained Q424* 1270C>T COCA-CN 19 40711899 40711899 single base substitution C T upstream_gene_variant COCA-CN 19 40715050 40715050 single base substitution G T 3_prime_UTR_variant COCA-CN 19 40715050 40715050 single base substitution G T downstream_gene_variant COCA-CN 19 40715050 40715050 single base substitution G T exon_variant COCA-CN 19 40715050 40715050 single base substitution G T synonymous_variant L492L 1476G>T COCA-CN 19 40715050 40715050 single base substitution G T upstream_gene_variant COCA-CN 19 40715063 40715063 single base substitution G T 3_prime_UTR_variant COCA-CN 19 40715063 40715063 single base substitution G T downstream_gene_variant COCA-CN 19 40715063 40715063 single base substitution G T exon_variant COCA-CN 19 40715063 40715063 single base substitution G T stop_gained G497* 1489G>T COCA-CN 19 40719235 40719235 single base substitution G A downstream_gene_variant COCA-CN 19 40719235 40719235 single base substitution G A exon_variant COCA-CN 19 40719235 40719235 single base substitution G A intron_variant COCA-CN 19 40719914 40719914 single base substitution A C 3_prime_UTR_variant COCA-CN 19 40719914 40719914 single base substitution A C downstream_gene_variant COCA-CN 19 40719914 40719914 single base substitution A C synonymous_variant P776P 2328A>C COCA-CN 19 40724088 40724088 single base substitution C T downstream_gene_variant COCA-CN 19 40724124 40724124 single base substitution G A downstream_gene_variant ESAD-UK 19 40693044 40693044 single base substitution A C upstream_gene_variant ESAD-UK 19 40693356 40693356 single base substitution G C upstream_gene_variant ESAD-UK 19 40693393 40693393 single base substitution G C upstream_gene_variant ESAD-UK 19 40693506 40693506 single base substitution G A upstream_gene_variant ESAD-UK 19 40693753 40693753 single base substitution G A upstream_gene_variant ESAD-UK 19 40693840 40693840 single base substitution T C upstream_gene_variant ESAD-UK 19 40693869 40693869 single base substitution C T upstream_gene_variant ESAD-UK 19 40695950 40695952 deletion of <=200bp TCT - upstream_gene_variant ESAD-UK 19 40696141 40696141 deletion of <=200bp G - upstream_gene_variant ESAD-UK 19 40696873 40696873 single base substitution C G upstream_gene_variant ESAD-UK 19 40697750 40697750 single base substitution G A 5_prime_UTR_variant ESAD-UK 19 40697750 40697750 single base substitution G A upstream_gene_variant ESAD-UK 19 40700905 40700905 single base substitution C G intron_variant ESAD-UK 19 40700905 40700905 single base substitution C G upstream_gene_variant ESAD-UK 19 40701049 40701049 single base substitution A G intron_variant ESAD-UK 19 40701049 40701049 single base substitution A G upstream_gene_variant ESAD-UK 19 40702760 40702760 single base substitution G T intron_variant ESAD-UK 19 40702760 40702760 single base substitution G T upstream_gene_variant ESAD-UK 19 40704339 40704339 single base substitution C T exon_variant ESAD-UK 19 40704339 40704339 single base substitution C T missense_variant T247M 740C>T ESAD-UK 19 40704339 40704339 single base substitution C T upstream_gene_variant ESAD-UK 19 40704722 40704722 single base substitution C T intron_variant ESAD-UK 19 40705716 40705716 single base substitution C T intron_variant ESAD-UK 19 40705716 40705716 single base substitution C T upstream_gene_variant ESAD-UK 19 40710070 40710070 single base substitution C T intron_variant ESAD-UK 19 40710070 40710070 single base substitution C T upstream_gene_variant ESAD-UK 19 40710471 40710471 single base substitution G A exon_variant ESAD-UK 19 40710471 40710471 single base substitution G A intron_variant ESAD-UK 19 40710471 40710471 single base substitution G A missense_variant V315M 943G>A ESAD-UK 19 40710471 40710471 single base substitution G A upstream_gene_variant ESAD-UK 19 40711987 40711987 single base substitution G A 3_prime_UTR_variant ESAD-UK 19 40711987 40711987 single base substitution G A downstream_gene_variant ESAD-UK 19 40711987 40711987 single base substitution G A exon_variant ESAD-UK 19 40711987 40711987 single base substitution G A intron_variant ESAD-UK 19 40711987 40711987 single base substitution G A missense_variant R453H 1358G>A ESAD-UK 19 40711987 40711987 single base substitution G A upstream_gene_variant ESAD-UK 19 40713658 40713658 single base substitution T A downstream_gene_variant ESAD-UK 19 40713658 40713658 single base substitution T A intron_variant ESAD-UK 19 40713658 40713658 single base substitution T A upstream_gene_variant ESAD-UK 19 40714395 40714395 single base substitution G A downstream_gene_variant ESAD-UK 19 40714395 40714395 single base substitution G A intron_variant ESAD-UK 19 40714395 40714395 single base substitution G A upstream_gene_variant ESAD-UK 19 40718134 40718134 single base substitution G A downstream_gene_variant ESAD-UK 19 40718134 40718134 single base substitution G A intron_variant ESAD-UK 19 40719221 40719221 single base substitution T C downstream_gene_variant ESAD-UK 19 40719221 40719221 single base substitution T C exon_variant ESAD-UK 19 40719221 40719221 single base substitution T C intron_variant ESAD-UK 19 40719626 40719626 single base substitution G A 3_prime_UTR_variant ESAD-UK 19 40719626 40719626 single base substitution G A downstream_gene_variant ESAD-UK 19 40719626 40719626 single base substitution G A exon_variant ESAD-UK 19 40719626 40719626 single base substitution G A synonymous_variant T680T 2040G>A ESAD-UK 19 40721028 40721028 single base substitution C G 3_prime_UTR_variant ESAD-UK 19 40721028 40721028 single base substitution C G downstream_gene_variant ESAD-UK 19 40721028 40721028 single base substitution C G synonymous_variant P898P 2694C>G ESAD-UK 19 40724133 40724133 single base substitution C T downstream_gene_variant ESAD-UK 19 40725154 40725154 single base substitution G C downstream_gene_variant ESCA-CN 19 40698223 40698223 single base substitution C T exon_variant ESCA-CN 19 40698223 40698223 single base substitution C T synonymous_variant F95F 285C>T ESCA-CN 19 40704411 40704411 single base substitution C T exon_variant ESCA-CN 19 40704411 40704411 single base substitution C T missense_variant A271V 812C>T ESCA-CN 19 40719076 40719076 single base substitution T C 3_prime_UTR_variant ESCA-CN 19 40719076 40719076 single base substitution T C downstream_gene_variant ESCA-CN 19 40719076 40719076 single base substitution T C exon_variant ESCA-CN 19 40719076 40719076 single base substitution T C synonymous_variant F606F 1818T>C KIRC-US 19 40698258 40698258 single base substitution G T exon_variant KIRC-US 19 40698258 40698258 single base substitution G T missense_variant G107V 320G>T KIRC-US 19 40698354 40698354 single base substitution C A exon_variant KIRC-US 19 40698354 40698354 single base substitution C A missense_variant A139E 416C>A KIRC-US 19 40720964 40720964 single base substitution G T 3_prime_UTR_variant KIRC-US 19 40720964 40720964 single base substitution G T downstream_gene_variant KIRC-US 19 40720964 40720964 single base substitution G T missense_variant R877L 2630G>T KIRC-US 19 40723224 40723224 single base substitution A G downstream_gene_variant LGG-US 19 40719044 40719044 single base substitution T C 3_prime_UTR_variant LGG-US 19 40719044 40719044 single base substitution T C downstream_gene_variant LGG-US 19 40719044 40719044 single base substitution T C exon_variant LGG-US 19 40719044 40719044 single base substitution T C missense_variant S596P 1786T>C LICA-CN 19 40711910 40711910 single base substitution A T 3_prime_UTR_variant LICA-CN 19 40711910 40711910 single base substitution A T downstream_gene_variant LICA-CN 19 40711910 40711910 single base substitution A T exon_variant LICA-CN 19 40711910 40711910 single base substitution A T intron_variant LICA-CN 19 40711910 40711910 single base substitution A T synonymous_variant A427A 1281A>T LICA-CN 19 40711910 40711910 single base substitution A T upstream_gene_variant LICA-FR 19 40697996 40697996 single base substitution G T missense_variant V20F 58G>T LICA-FR 19 40697996 40697996 single base substitution G T upstream_gene_variant LICA-FR 19 40698247 40698261 deletion of <=200bp CATCGGTGTGGGGGG - exon_variant LICA-FR 19 40698247 40698261 deletion of <=200bp CATCGGTGTGGGGGG - inframe_deletion IIGVGG103I LICA-FR 19 40719738 40719738 single base substitution C T 3_prime_UTR_variant LICA-FR 19 40719738 40719738 single base substitution C T downstream_gene_variant LICA-FR 19 40719738 40719738 single base substitution C T missense_variant P718S 2152C>T LICA-FR 19 40724118 40724118 single base substitution C A downstream_gene_variant LIHC-US 19 40698304 40698304 single base substitution G A exon_variant LIHC-US 19 40698304 40698304 single base substitution G A synonymous_variant V122V 366G>A LIHC-US 19 40704415 40704415 single base substitution G A exon_variant LIHC-US 19 40704415 40704415 single base substitution G A synonymous_variant P272P 816G>A LIHC-US 19 40724111 40724111 single base substitution T A downstream_gene_variant LINC-JP 19 40693280 40693280 single base substitution G A upstream_gene_variant LINC-JP 19 40704149 40704149 single base substitution G C intron_variant LINC-JP 19 40704149 40704149 single base substitution G C upstream_gene_variant LINC-JP 19 40705123 40705123 single base substitution G T intron_variant LINC-JP 19 40708267 40708267 single base substitution T C intron_variant LINC-JP 19 40708267 40708267 single base substitution T C upstream_gene_variant LINC-JP 19 40712323 40712323 single base substitution A T downstream_gene_variant LINC-JP 19 40712323 40712323 single base substitution A T intron_variant LINC-JP 19 40712323 40712323 single base substitution A T upstream_gene_variant LINC-JP 19 40714821 40714821 single base substitution T C downstream_gene_variant LINC-JP 19 40714821 40714821 single base substitution T C intron_variant LINC-JP 19 40714821 40714821 single base substitution T C upstream_gene_variant LINC-JP 19 40716733 40716733 single base substitution A G downstream_gene_variant LINC-JP 19 40716733 40716733 single base substitution A G intron_variant LINC-JP 19 40719076 40719076 single base substitution T C 3_prime_UTR_variant LINC-JP 19 40719076 40719076 single base substitution T C downstream_gene_variant LINC-JP 19 40719076 40719076 single base substitution T C exon_variant LINC-JP 19 40719076 40719076 single base substitution T C synonymous_variant F606F 1818T>C LINC-JP 19 40719900 40719900 single base substitution G A 3_prime_UTR_variant LINC-JP 19 40719900 40719900 single base substitution G A downstream_gene_variant LINC-JP 19 40719900 40719900 single base substitution G A missense_variant A772T 2314G>A LINC-JP 19 40719943 40719943 single base substitution C T 3_prime_UTR_variant LINC-JP 19 40719943 40719943 single base substitution C T downstream_gene_variant LINC-JP 19 40719943 40719943 single base substitution C T missense_variant T786M 2357C>T LINC-JP 19 40724064 40724064 single base substitution G A downstream_gene_variant LIRI-JP 19 40693244 40693244 single base substitution T G upstream_gene_variant LIRI-JP 19 40694474 40694474 single base substitution C T upstream_gene_variant LIRI-JP 19 40699756 40699756 single base substitution C G intron_variant LIRI-JP 19 40699756 40699756 single base substitution C G upstream_gene_variant LIRI-JP 19 40701104 40701104 single base substitution G C intron_variant LIRI-JP 19 40701104 40701104 single base substitution G C upstream_gene_variant LIRI-JP 19 40702542 40702542 single base substitution A T intron_variant LIRI-JP 19 40702542 40702542 single base substitution A T upstream_gene_variant LIRI-JP 19 40705871 40705871 single base substitution G A intron_variant LIRI-JP 19 40705871 40705871 single base substitution G A upstream_gene_variant LIRI-JP 19 40707793 40707793 single base substitution G T intron_variant LIRI-JP 19 40707793 40707793 single base substitution G T upstream_gene_variant LIRI-JP 19 40707876 40707876 single base substitution C T intron_variant LIRI-JP 19 40707876 40707876 single base substitution C T upstream_gene_variant LIRI-JP 19 40708846 40708846 single base substitution C T intron_variant LIRI-JP 19 40708846 40708846 single base substitution C T upstream_gene_variant LIRI-JP 19 40709742 40709742 single base substitution G A intron_variant LIRI-JP 19 40709742 40709742 single base substitution G A upstream_gene_variant LIRI-JP 19 40710345 40710345 single base substitution G C intron_variant LIRI-JP 19 40710345 40710345 single base substitution G C upstream_gene_variant LIRI-JP 19 40710632 40710632 single base substitution A G downstream_gene_variant LIRI-JP 19 40710632 40710632 single base substitution A G exon_variant LIRI-JP 19 40710632 40710632 single base substitution A G intron_variant LIRI-JP 19 40710632 40710632 single base substitution A G upstream_gene_variant LIRI-JP 19 40713556 40713556 single base substitution C A downstream_gene_variant LIRI-JP 19 40713556 40713556 single base substitution C A intron_variant LIRI-JP 19 40713556 40713556 single base substitution C A upstream_gene_variant LIRI-JP 19 40714677 40714677 single base substitution A G downstream_gene_variant LIRI-JP 19 40714677 40714677 single base substitution A G intron_variant LIRI-JP 19 40714677 40714677 single base substitution A G upstream_gene_variant LIRI-JP 19 40715207 40715207 single base substitution A C downstream_gene_variant LIRI-JP 19 40715207 40715207 single base substitution A C intron_variant LIRI-JP 19 40715470 40715470 single base substitution T A downstream_gene_variant LIRI-JP 19 40715470 40715470 single base substitution T A intron_variant LIRI-JP 19 40715643 40715643 single base substitution T A downstream_gene_variant LIRI-JP 19 40715643 40715643 single base substitution T A intron_variant LIRI-JP 19 40716293 40716293 single base substitution G A downstream_gene_variant LIRI-JP 19 40716293 40716293 single base substitution G A intron_variant LIRI-JP 19 40717013 40717013 single base substitution T C downstream_gene_variant LIRI-JP 19 40717013 40717013 single base substitution T C intron_variant LIRI-JP 19 40722062 40722062 single base substitution G A downstream_gene_variant LIRI-JP 19 40722847 40722847 single base substitution A G downstream_gene_variant LUSC-KR 19 40693145 40693145 single base substitution C T upstream_gene_variant LUSC-KR 19 40693363 40693363 single base substitution G C upstream_gene_variant LUSC-KR 19 40694929 40694929 single base substitution G A upstream_gene_variant LUSC-KR 19 40696992 40696992 single base substitution G C upstream_gene_variant LUSC-KR 19 40697718 40697718 single base substitution A C 5_prime_UTR_variant LUSC-KR 19 40697718 40697718 single base substitution A C upstream_gene_variant LUSC-KR 19 40698771 40698771 single base substitution G C intron_variant LUSC-KR 19 40705673 40705673 single base substitution G C intron_variant LUSC-KR 19 40705673 40705673 single base substitution G C upstream_gene_variant LUSC-KR 19 40707064 40707064 single base substitution G C intron_variant LUSC-KR 19 40707064 40707064 single base substitution G C upstream_gene_variant LUSC-KR 19 40710556 40710556 single base substitution G T downstream_gene_variant LUSC-KR 19 40710556 40710556 single base substitution G T exon_variant LUSC-KR 19 40710556 40710556 single base substitution G T intron_variant LUSC-KR 19 40710556 40710556 single base substitution G T upstream_gene_variant LUSC-KR 19 40711401 40711401 single base substitution C T downstream_gene_variant LUSC-KR 19 40711401 40711401 single base substitution C T intron_variant LUSC-KR 19 40711401 40711401 single base substitution C T upstream_gene_variant LUSC-KR 19 40713806 40713806 single base substitution T A downstream_gene_variant LUSC-KR 19 40713806 40713806 single base substitution T A intron_variant LUSC-KR 19 40713806 40713806 single base substitution T A upstream_gene_variant LUSC-KR 19 40714297 40714297 single base substitution G T downstream_gene_variant LUSC-KR 19 40714297 40714297 single base substitution G T intron_variant LUSC-KR 19 40714297 40714297 single base substitution G T upstream_gene_variant LUSC-KR 19 40715530 40715530 single base substitution C T downstream_gene_variant LUSC-KR 19 40715530 40715530 single base substitution C T intron_variant LUSC-KR 19 40720042 40720042 single base substitution G A 3_prime_UTR_variant LUSC-KR 19 40720042 40720042 single base substitution G A downstream_gene_variant LUSC-KR 19 40720042 40720042 single base substitution G A missense_variant C819Y 2456G>A LUSC-KR 19 40721243 40721243 single base substitution C T 3_prime_UTR_variant LUSC-KR 19 40721243 40721243 single base substitution C T downstream_gene_variant LUSC-KR 19 40721765 40721765 single base substitution C T downstream_gene_variant LUSC-KR 19 40723021 40723021 single base substitution C T downstream_gene_variant LUSC-US 19 40722081 40722081 single base substitution C T downstream_gene_variant MALY-DE 19 40694437 40694437 single base substitution G A upstream_gene_variant MALY-DE 19 40704010 40704010 single base substitution C T intron_variant MALY-DE 19 40704010 40704010 single base substitution C T upstream_gene_variant MALY-DE 19 40705469 40705469 single base substitution C T intron_variant MALY-DE 19 40713836 40713836 single base substitution T C downstream_gene_variant MALY-DE 19 40713836 40713836 single base substitution T C intron_variant MALY-DE 19 40713836 40713836 single base substitution T C upstream_gene_variant MALY-DE 19 40716805 40716805 single base substitution G A downstream_gene_variant MALY-DE 19 40716805 40716805 single base substitution G A intron_variant MALY-DE 19 40718042 40718042 single base substitution G A downstream_gene_variant MALY-DE 19 40718042 40718042 single base substitution G A intron_variant MALY-DE 19 40721465 40721465 single base substitution G T 3_prime_UTR_variant MALY-DE 19 40721465 40721465 single base substitution G T downstream_gene_variant MALY-DE 19 40722626 40722627 deletion of <=200bp CA - downstream_gene_variant MALY-DE 19 40725215 40725215 single base substitution A G downstream_gene_variant MELA-AU 19 40692975 40692975 single base substitution C T upstream_gene_variant MELA-AU 19 40693057 40693057 single base substitution C T upstream_gene_variant MELA-AU 19 40693085 40693085 single base substitution C A upstream_gene_variant MELA-AU 19 40693256 40693256 single base substitution G A upstream_gene_variant MELA-AU 19 40693346 40693346 single base substitution G A upstream_gene_variant MELA-AU 19 40693563 40693563 single base substitution G A upstream_gene_variant MELA-AU 19 40693968 40693968 single base substitution G A upstream_gene_variant MELA-AU 19 40694059 40694059 single base substitution C T upstream_gene_variant MELA-AU 19 40694722 40694722 single base substitution T G upstream_gene_variant MELA-AU 19 40695475 40695475 single base substitution G A upstream_gene_variant MELA-AU 19 40696954 40696954 single base substitution C T upstream_gene_variant MELA-AU 19 40697147 40697148 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 40697153 40697153 single base substitution G A upstream_gene_variant MELA-AU 19 40697619 40697619 single base substitution C T upstream_gene_variant MELA-AU 19 40698252 40698252 single base substitution G C exon_variant MELA-AU 19 40698252 40698252 single base substitution G C missense_variant G105A 314G>C MELA-AU 19 40698604 40698605 multiple base substitution (>=2bp and <=200bp) CC GA exon_variant MELA-AU 19 40698604 40698605 multiple base substitution (>=2bp and <=200bp) CC GA missense_variant DL222EI MELA-AU 19 40699217 40699217 single base substitution C T intron_variant MELA-AU 19 40699637 40699637 single base substitution C T intron_variant MELA-AU 19 40699637 40699637 single base substitution C T upstream_gene_variant MELA-AU 19 40700070 40700070 single base substitution C T intron_variant MELA-AU 19 40700070 40700070 single base substitution C T upstream_gene_variant MELA-AU 19 40700202 40700202 single base substitution T C intron_variant MELA-AU 19 40700202 40700202 single base substitution T C upstream_gene_variant MELA-AU 19 40700678 40700678 single base substitution G A intron_variant MELA-AU 19 40700678 40700678 single base substitution G A upstream_gene_variant MELA-AU 19 40700730 40700730 single base substitution C T intron_variant MELA-AU 19 40700730 40700730 single base substitution C T upstream_gene_variant MELA-AU 19 40700844 40700844 single base substitution G A intron_variant MELA-AU 19 40700844 40700844 single base substitution G A upstream_gene_variant MELA-AU 19 40702875 40702875 single base substitution C T intron_variant MELA-AU 19 40702875 40702875 single base substitution C T upstream_gene_variant MELA-AU 19 40703696 40703696 single base substitution C T intron_variant MELA-AU 19 40703696 40703696 single base substitution C T upstream_gene_variant MELA-AU 19 40703965 40703965 single base substitution C T intron_variant MELA-AU 19 40703965 40703965 single base substitution C T upstream_gene_variant MELA-AU 19 40704270 40704270 single base substitution C T intron_variant MELA-AU 19 40704270 40704270 single base substitution C T upstream_gene_variant MELA-AU 19 40704740 40704740 single base substitution C T intron_variant MELA-AU 19 40705034 40705034 single base substitution C T intron_variant MELA-AU 19 40705235 40705235 single base substitution A T intron_variant MELA-AU 19 40705794 40705795 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 40705794 40705795 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 40705831 40705831 single base substitution C T intron_variant MELA-AU 19 40705831 40705831 single base substitution C T upstream_gene_variant MELA-AU 19 40705893 40705893 single base substitution C T intron_variant MELA-AU 19 40705893 40705893 single base substitution C T upstream_gene_variant MELA-AU 19 40706118 40706118 single base substitution A G intron_variant MELA-AU 19 40706118 40706118 single base substitution A G upstream_gene_variant MELA-AU 19 40707189 40707189 single base substitution C T intron_variant MELA-AU 19 40707189 40707189 single base substitution C T upstream_gene_variant MELA-AU 19 40707190 40707190 single base substitution C T intron_variant MELA-AU 19 40707190 40707190 single base substitution C T upstream_gene_variant MELA-AU 19 40708073 40708073 single base substitution G A intron_variant MELA-AU 19 40708073 40708073 single base substitution G A upstream_gene_variant MELA-AU 19 40708174 40708174 single base substitution C T intron_variant MELA-AU 19 40708174 40708174 single base substitution C T upstream_gene_variant MELA-AU 19 40708204 40708204 single base substitution C T intron_variant MELA-AU 19 40708204 40708204 single base substitution C T upstream_gene_variant MELA-AU 19 40708275 40708275 single base substitution C T intron_variant MELA-AU 19 40708275 40708275 single base substitution C T upstream_gene_variant MELA-AU 19 40709425 40709426 multiple base substitution (>=2bp and <=200bp) TG CT intron_variant MELA-AU 19 40709425 40709426 multiple base substitution (>=2bp and <=200bp) TG CT upstream_gene_variant MELA-AU 19 40709639 40709639 deletion of <=200bp A - intron_variant MELA-AU 19 40709639 40709639 deletion of <=200bp A - upstream_gene_variant MELA-AU 19 40709713 40709713 single base substitution T C intron_variant MELA-AU 19 40709713 40709713 single base substitution T C upstream_gene_variant MELA-AU 19 40709873 40709873 single base substitution C T intron_variant MELA-AU 19 40709873 40709873 single base substitution C T upstream_gene_variant MELA-AU 19 40710316 40710316 single base substitution G A intron_variant MELA-AU 19 40710316 40710316 single base substitution G A upstream_gene_variant MELA-AU 19 40710380 40710380 single base substitution C T intron_variant MELA-AU 19 40710380 40710380 single base substitution C T upstream_gene_variant MELA-AU 19 40710381 40710381 single base substitution C G intron_variant MELA-AU 19 40710381 40710381 single base substitution C G upstream_gene_variant MELA-AU 19 40710484 40710484 single base substitution A G exon_variant MELA-AU 19 40710484 40710484 single base substitution A G intron_variant MELA-AU 19 40710484 40710484 single base substitution A G missense_variant K319R 956A>G MELA-AU 19 40710484 40710484 single base substitution A G upstream_gene_variant MELA-AU 19 40710520 40710520 single base substitution C T exon_variant MELA-AU 19 40710520 40710520 single base substitution C T intron_variant MELA-AU 19 40710520 40710520 single base substitution C T missense_variant P331L 992C>T MELA-AU 19 40710520 40710520 single base substitution C T upstream_gene_variant MELA-AU 19 40710533 40710533 single base substitution C T downstream_gene_variant MELA-AU 19 40710533 40710533 single base substitution C T exon_variant MELA-AU 19 40710533 40710533 single base substitution C T intron_variant MELA-AU 19 40710533 40710533 single base substitution C T synonymous_variant L335L 1005C>T MELA-AU 19 40710533 40710533 single base substitution C T upstream_gene_variant MELA-AU 19 40710612 40710612 single base substitution C T downstream_gene_variant MELA-AU 19 40710612 40710612 single base substitution C T exon_variant MELA-AU 19 40710612 40710612 single base substitution C T intron_variant MELA-AU 19 40710612 40710612 single base substitution C T upstream_gene_variant MELA-AU 19 40711138 40711138 single base substitution T G 3_prime_UTR_variant MELA-AU 19 40711138 40711138 single base substitution T G downstream_gene_variant MELA-AU 19 40711138 40711138 single base substitution T G exon_variant MELA-AU 19 40711138 40711138 single base substitution T G missense_variant S375A 1123T>G MELA-AU 19 40711138 40711138 single base substitution T G upstream_gene_variant MELA-AU 19 40711259 40711259 single base substitution C T downstream_gene_variant MELA-AU 19 40711259 40711259 single base substitution C T intron_variant MELA-AU 19 40711259 40711259 single base substitution C T upstream_gene_variant MELA-AU 19 40711786 40711786 single base substitution C T downstream_gene_variant MELA-AU 19 40711786 40711786 single base substitution C T intron_variant MELA-AU 19 40711786 40711786 single base substitution C T upstream_gene_variant MELA-AU 19 40711801 40711801 single base substitution C T downstream_gene_variant MELA-AU 19 40711801 40711801 single base substitution C T intron_variant MELA-AU 19 40711801 40711801 single base substitution C T upstream_gene_variant MELA-AU 19 40711810 40711810 single base substitution C T downstream_gene_variant MELA-AU 19 40711810 40711810 single base substitution C T intron_variant MELA-AU 19 40711810 40711810 single base substitution C T splice_region_variant MELA-AU 19 40711810 40711810 single base substitution C T upstream_gene_variant MELA-AU 19 40711928 40711928 single base substitution C T 3_prime_UTR_variant MELA-AU 19 40711928 40711928 single base substitution C T downstream_gene_variant MELA-AU 19 40711928 40711928 single base substitution C T exon_variant MELA-AU 19 40711928 40711928 single base substitution C T intron_variant MELA-AU 19 40711928 40711928 single base substitution C T synonymous_variant I433I 1299C>T MELA-AU 19 40711928 40711928 single base substitution C T upstream_gene_variant MELA-AU 19 40712175 40712175 single base substitution C T downstream_gene_variant MELA-AU 19 40712175 40712175 single base substitution C T exon_variant MELA-AU 19 40712175 40712175 single base substitution C T intron_variant MELA-AU 19 40712175 40712175 single base substitution C T upstream_gene_variant MELA-AU 19 40712323 40712323 single base substitution A T downstream_gene_variant MELA-AU 19 40712323 40712323 single base substitution A T intron_variant MELA-AU 19 40712323 40712323 single base substitution A T upstream_gene_variant MELA-AU 19 40712717 40712717 single base substitution C T downstream_gene_variant MELA-AU 19 40712717 40712717 single base substitution C T intron_variant MELA-AU 19 40712717 40712717 single base substitution C T upstream_gene_variant MELA-AU 19 40712739 40712739 single base substitution G A downstream_gene_variant MELA-AU 19 40712739 40712739 single base substitution G A intron_variant MELA-AU 19 40712739 40712739 single base substitution G A upstream_gene_variant MELA-AU 19 40713596 40713596 single base substitution C T downstream_gene_variant MELA-AU 19 40713596 40713596 single base substitution C T intron_variant MELA-AU 19 40713596 40713596 single base substitution C T upstream_gene_variant MELA-AU 19 40714360 40714360 single base substitution C T downstream_gene_variant MELA-AU 19 40714360 40714360 single base substitution C T intron_variant MELA-AU 19 40714360 40714360 single base substitution C T upstream_gene_variant MELA-AU 19 40714759 40714759 single base substitution C T downstream_gene_variant MELA-AU 19 40714759 40714759 single base substitution C T intron_variant MELA-AU 19 40714759 40714759 single base substitution C T upstream_gene_variant MELA-AU 19 40714967 40714967 single base substitution C T downstream_gene_variant MELA-AU 19 40714967 40714967 single base substitution C T intron_variant MELA-AU 19 40714967 40714967 single base substitution C T upstream_gene_variant MELA-AU 19 40715106 40715106 single base substitution C T 3_prime_UTR_variant MELA-AU 19 40715106 40715106 single base substitution C T downstream_gene_variant MELA-AU 19 40715106 40715106 single base substitution C T exon_variant MELA-AU 19 40715106 40715106 single base substitution C T missense_variant P511L 1532C>T MELA-AU 19 40715305 40715305 single base substitution T C downstream_gene_variant MELA-AU 19 40715305 40715305 single base substitution T C intron_variant MELA-AU 19 40716067 40716068 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 40716067 40716068 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 40716816 40716816 single base substitution C T downstream_gene_variant MELA-AU 19 40716816 40716816 single base substitution C T intron_variant MELA-AU 19 40716957 40716957 single base substitution C T downstream_gene_variant MELA-AU 19 40716957 40716957 single base substitution C T intron_variant MELA-AU 19 40717161 40717161 single base substitution G A downstream_gene_variant MELA-AU 19 40717161 40717161 single base substitution G A intron_variant MELA-AU 19 40717258 40717258 single base substitution C T downstream_gene_variant MELA-AU 19 40717258 40717258 single base substitution C T intron_variant MELA-AU 19 40717615 40717615 single base substitution C T downstream_gene_variant MELA-AU 19 40717615 40717615 single base substitution C T intron_variant MELA-AU 19 40718016 40718016 single base substitution C T downstream_gene_variant MELA-AU 19 40718016 40718016 single base substitution C T intron_variant MELA-AU 19 40718213 40718213 single base substitution C T downstream_gene_variant MELA-AU 19 40718213 40718213 single base substitution C T intron_variant MELA-AU 19 40718503 40718503 single base substitution C T downstream_gene_variant MELA-AU 19 40718503 40718503 single base substitution C T intron_variant MELA-AU 19 40718583 40718583 single base substitution A G downstream_gene_variant MELA-AU 19 40718583 40718583 single base substitution A G intron_variant MELA-AU 19 40718614 40718614 single base substitution C T downstream_gene_variant MELA-AU 19 40718614 40718614 single base substitution C T intron_variant MELA-AU 19 40718924 40718924 single base substitution C T downstream_gene_variant MELA-AU 19 40718924 40718924 single base substitution C T intron_variant MELA-AU 19 40719214 40719215 multiple base substitution (>=2bp and <=200bp) AG TA downstream_gene_variant MELA-AU 19 40719214 40719215 multiple base substitution (>=2bp and <=200bp) AG TA exon_variant MELA-AU 19 40719214 40719215 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 19 40719380 40719381 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 40719380 40719381 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 19 40719380 40719381 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 40720118 40720118 single base substitution C T 3_prime_UTR_variant MELA-AU 19 40720118 40720118 single base substitution C T downstream_gene_variant MELA-AU 19 40720118 40720118 single base substitution C T synonymous_variant G844G 2532C>T MELA-AU 19 40720143 40720143 single base substitution C T downstream_gene_variant MELA-AU 19 40720143 40720143 single base substitution C T intron_variant MELA-AU 19 40720214 40720214 single base substitution C T downstream_gene_variant MELA-AU 19 40720214 40720214 single base substitution C T intron_variant MELA-AU 19 40720671 40720672 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 40720671 40720672 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 40720841 40720841 single base substitution C T downstream_gene_variant MELA-AU 19 40720841 40720841 single base substitution C T intron_variant MELA-AU 19 40720859 40720859 single base substitution C T downstream_gene_variant MELA-AU 19 40720859 40720859 single base substitution C T intron_variant MELA-AU 19 40721011 40721011 single base substitution C T 3_prime_UTR_variant MELA-AU 19 40721011 40721011 single base substitution C T downstream_gene_variant MELA-AU 19 40721011 40721011 single base substitution C T missense_variant R893C 2677C>T MELA-AU 19 40721834 40721834 single base substitution C G downstream_gene_variant MELA-AU 19 40722056 40722056 single base substitution C T downstream_gene_variant MELA-AU 19 40722066 40722066 single base substitution G A downstream_gene_variant MELA-AU 19 40722313 40722313 single base substitution C T downstream_gene_variant MELA-AU 19 40722355 40722355 single base substitution G A downstream_gene_variant MELA-AU 19 40724583 40724583 single base substitution G A downstream_gene_variant MELA-AU 19 40724649 40724649 single base substitution G A downstream_gene_variant MELA-AU 19 40724791 40724791 single base substitution T G downstream_gene_variant MELA-AU 19 40725044 40725044 single base substitution T C downstream_gene_variant MELA-AU 19 40725169 40725169 single base substitution G A downstream_gene_variant MELA-AU 19 40725318 40725318 single base substitution G C downstream_gene_variant MELA-AU 19 40725379 40725379 single base substitution G A downstream_gene_variant MELA-AU 19 40725640 40725640 single base substitution C T downstream_gene_variant MELA-AU 19 40726345 40726345 single base substitution C T downstream_gene_variant ORCA-IN 19 40699038 40699038 single base substitution A C intron_variant ORCA-IN 19 40710763 40710763 single base substitution G A downstream_gene_variant ORCA-IN 19 40710763 40710763 single base substitution G A exon_variant ORCA-IN 19 40710763 40710763 single base substitution G A intron_variant ORCA-IN 19 40710763 40710763 single base substitution G A upstream_gene_variant ORCA-IN 19 40712847 40712847 single base substitution C A downstream_gene_variant ORCA-IN 19 40712847 40712847 single base substitution C A intron_variant ORCA-IN 19 40712847 40712847 single base substitution C A upstream_gene_variant ORCA-IN 19 40719859 40719859 single base substitution C A 3_prime_UTR_variant ORCA-IN 19 40719859 40719859 single base substitution C A downstream_gene_variant ORCA-IN 19 40719859 40719859 single base substitution C A missense_variant T758K 2273C>A ORCA-IN 19 40725114 40725114 single base substitution G A downstream_gene_variant ORCA-IN 19 40725788 40725788 single base substitution G A downstream_gene_variant OV-AU 19 40698410 40698410 single base substitution A T intron_variant OV-AU 19 40698410 40698410 single base substitution A T missense_variant I158F 472A>T OV-AU 19 40701171 40701171 single base substitution G T intron_variant OV-AU 19 40701171 40701171 single base substitution G T upstream_gene_variant OV-AU 19 40702114 40702114 single base substitution C T intron_variant OV-AU 19 40702114 40702114 single base substitution C T upstream_gene_variant OV-AU 19 40702759 40702759 single base substitution C T intron_variant OV-AU 19 40702759 40702759 single base substitution C T upstream_gene_variant OV-AU 19 40707055 40707055 single base substitution T C intron_variant OV-AU 19 40707055 40707055 single base substitution T C upstream_gene_variant OV-AU 19 40715542 40715542 single base substitution G A downstream_gene_variant OV-AU 19 40715542 40715542 single base substitution G A intron_variant PACA-AU 19 40693586 40693586 single base substitution T G upstream_gene_variant PACA-AU 19 40698296 40698296 single base substitution G A exon_variant PACA-AU 19 40698296 40698296 single base substitution G A missense_variant E120K 358G>A PACA-AU 19 40703861 40703861 single base substitution C G intron_variant PACA-AU 19 40703861 40703861 single base substitution C G upstream_gene_variant PACA-AU 19 40710446 40710446 single base substitution C T exon_variant PACA-AU 19 40710446 40710446 single base substitution C T intron_variant PACA-AU 19 40710446 40710446 single base substitution C T synonymous_variant I306I 918C>T PACA-AU 19 40710446 40710446 single base substitution C T upstream_gene_variant PACA-AU 19 40722057 40722057 single base substitution C T downstream_gene_variant PACA-AU 19 40723499 40723499 single base substitution G A downstream_gene_variant PACA-AU 19 40724505 40724505 single base substitution T C downstream_gene_variant PACA-CA 19 40693275 40693275 single base substitution A G upstream_gene_variant PACA-CA 19 40694050 40694050 single base substitution C G upstream_gene_variant PACA-CA 19 40696199 40696199 single base substitution A G upstream_gene_variant PACA-CA 19 40696935 40696935 single base substitution T C upstream_gene_variant PACA-CA 19 40709941 40709941 single base substitution G C intron_variant PACA-CA 19 40709941 40709941 single base substitution G C upstream_gene_variant PACA-CA 19 40713815 40713815 single base substitution T A downstream_gene_variant PACA-CA 19 40713815 40713815 single base substitution T A intron_variant PACA-CA 19 40713815 40713815 single base substitution T A upstream_gene_variant PACA-CA 19 40714852 40714852 single base substitution T C downstream_gene_variant PACA-CA 19 40714852 40714852 single base substitution T C intron_variant PACA-CA 19 40714852 40714852 single base substitution T C upstream_gene_variant PACA-CA 19 40716094 40716094 single base substitution A G downstream_gene_variant PACA-CA 19 40716094 40716094 single base substitution A G intron_variant PACA-CA 19 40716347 40716347 single base substitution C T downstream_gene_variant PACA-CA 19 40716347 40716347 single base substitution C T intron_variant PACA-CA 19 40717615 40717615 single base substitution C A downstream_gene_variant PACA-CA 19 40717615 40717615 single base substitution C A intron_variant PACA-CA 19 40720882 40720882 single base substitution C T 3_prime_UTR_variant PACA-CA 19 40720882 40720882 single base substitution C T downstream_gene_variant PACA-CA 19 40720882 40720882 single base substitution C T missense_variant R850C 2548C>T PACA-CA 19 40724624 40724624 single base substitution C T downstream_gene_variant PAEN-AU 19 40697200 40697200 single base substitution C T upstream_gene_variant PAEN-AU 19 40698303 40698303 single base substitution T G exon_variant PAEN-AU 19 40698303 40698303 single base substitution T G missense_variant V122G 365T>G PAEN-AU 19 40701151 40701151 single base substitution G T intron_variant PAEN-AU 19 40701151 40701151 single base substitution G T upstream_gene_variant PAEN-AU 19 40703263 40703263 single base substitution C T intron_variant PAEN-AU 19 40703263 40703263 single base substitution C T upstream_gene_variant PAEN-AU 19 40704353 40704353 single base substitution G A exon_variant PAEN-AU 19 40704353 40704353 single base substitution G A missense_variant A252T 754G>A PAEN-AU 19 40717143 40717143 single base substitution A G downstream_gene_variant PAEN-AU 19 40717143 40717143 single base substitution A G intron_variant PAEN-AU 19 40717309 40717309 single base substitution C T downstream_gene_variant PAEN-AU 19 40717309 40717309 single base substitution C T intron_variant PAEN-AU 19 40725110 40725114 deletion of <=200bp AAAGG - downstream_gene_variant PBCA-DE 19 40692689 40692689 single base substitution C T upstream_gene_variant PBCA-DE 19 40694677 40694677 single base substitution G A upstream_gene_variant PBCA-DE 19 40695530 40695530 single base substitution G A upstream_gene_variant PBCA-DE 19 40700286 40700286 single base substitution G T intron_variant PBCA-DE 19 40700286 40700286 single base substitution G T upstream_gene_variant PBCA-DE 19 40705759 40705759 single base substitution G T intron_variant PBCA-DE 19 40705759 40705759 single base substitution G T upstream_gene_variant PBCA-DE 19 40710233 40710233 single base substitution G A intron_variant PBCA-DE 19 40710233 40710233 single base substitution G A upstream_gene_variant PBCA-DE 19 40711140 40711140 single base substitution G A 3_prime_UTR_variant PBCA-DE 19 40711140 40711140 single base substitution G A downstream_gene_variant PBCA-DE 19 40711140 40711140 single base substitution G A exon_variant PBCA-DE 19 40711140 40711140 single base substitution G A synonymous_variant S375S 1125G>A PBCA-DE 19 40711140 40711140 single base substitution G A upstream_gene_variant PBCA-DE 19 40717817 40717817 single base substitution G A downstream_gene_variant PBCA-DE 19 40717817 40717817 single base substitution G A intron_variant PBCA-DE 19 40720495 40720495 single base substitution G A downstream_gene_variant PBCA-DE 19 40720495 40720495 single base substitution G A intron_variant PRAD-CA 19 40694979 40694979 single base substitution C A upstream_gene_variant PRAD-CA 19 40708601 40708601 single base substitution A C intron_variant PRAD-CA 19 40708601 40708601 single base substitution A C upstream_gene_variant PRAD-UK 19 40709764 40709764 single base substitution G C intron_variant PRAD-UK 19 40709764 40709764 single base substitution G C upstream_gene_variant PRAD-US 19 40698519 40698519 single base substitution A G intron_variant PRAD-US 19 40698519 40698519 single base substitution A G missense_variant H194R 581A>G PRAD-US 19 40711065 40711065 single base substitution C T downstream_gene_variant PRAD-US 19 40711065 40711065 single base substitution C T exon_variant PRAD-US 19 40711065 40711065 single base substitution C T synonymous_variant F350F 1050C>T PRAD-US 19 40711065 40711065 single base substitution C T upstream_gene_variant PRAD-US 19 40715127 40715127 single base substitution G A downstream_gene_variant PRAD-US 19 40715127 40715127 single base substitution G A splice_donor_variant PRAD-US 19 40719433 40719433 single base substitution C T 3_prime_UTR_variant PRAD-US 19 40719433 40719433 single base substitution C T downstream_gene_variant PRAD-US 19 40719433 40719433 single base substitution C T exon_variant PRAD-US 19 40719433 40719433 single base substitution C T missense_variant A616V 1847C>T PRAD-US 19 40720904 40720904 single base substitution G A 3_prime_UTR_variant PRAD-US 19 40720904 40720904 single base substitution G A downstream_gene_variant PRAD-US 19 40720904 40720904 single base substitution G A missense_variant R857H 2570G>A READ-US 19 40718777 40718777 single base substitution C T 3_prime_UTR_variant READ-US 19 40718777 40718777 single base substitution C T downstream_gene_variant READ-US 19 40718777 40718777 single base substitution C T exon_variant READ-US 19 40718777 40718777 single base substitution C T missense_variant R540C 1618C>T READ-US 19 40720079 40720079 single base substitution C T 3_prime_UTR_variant READ-US 19 40720079 40720079 single base substitution C T downstream_gene_variant READ-US 19 40720079 40720079 single base substitution C T synonymous_variant D831D 2493C>T RECA-EU 19 40693263 40693263 single base substitution C A upstream_gene_variant RECA-EU 19 40705649 40705649 single base substitution G T intron_variant RECA-EU 19 40705649 40705649 single base substitution G T upstream_gene_variant RECA-EU 19 40713765 40713765 single base substitution T C downstream_gene_variant RECA-EU 19 40713765 40713765 single base substitution T C intron_variant RECA-EU 19 40713765 40713765 single base substitution T C upstream_gene_variant SKCA-BR 19 40693091 40693091 single base substitution A G upstream_gene_variant SKCA-BR 19 40695882 40695882 single base substitution G A upstream_gene_variant SKCA-BR 19 40697115 40697115 single base substitution T C upstream_gene_variant SKCA-BR 19 40700724 40700724 single base substitution C T intron_variant SKCA-BR 19 40700724 40700724 single base substitution C T upstream_gene_variant SKCA-BR 19 40703452 40703452 single base substitution C T intron_variant SKCA-BR 19 40703452 40703452 single base substitution C T upstream_gene_variant SKCA-BR 19 40704111 40704111 single base substitution C T intron_variant SKCA-BR 19 40704111 40704111 single base substitution C T upstream_gene_variant SKCA-BR 19 40704151 40704151 single base substitution A C intron_variant SKCA-BR 19 40704151 40704151 single base substitution A C upstream_gene_variant SKCA-BR 19 40704357 40704357 single base substitution G A exon_variant SKCA-BR 19 40704357 40704357 single base substitution G A missense_variant R253H 758G>A SKCA-BR 19 40704434 40704434 single base substitution C T exon_variant SKCA-BR 19 40704434 40704434 single base substitution C T intron_variant SKCA-BR 19 40704434 40704434 single base substitution C T missense_variant L279F 835C>T SKCA-BR 19 40708725 40708725 single base substitution T C intron_variant SKCA-BR 19 40708725 40708725 single base substitution T C upstream_gene_variant SKCA-BR 19 40710501 40710501 single base substitution C T exon_variant SKCA-BR 19 40710501 40710501 single base substitution C T intron_variant SKCA-BR 19 40710501 40710501 single base substitution C T missense_variant P325S 973C>T SKCA-BR 19 40710501 40710501 single base substitution C T upstream_gene_variant SKCA-BR 19 40710590 40710590 single base substitution A G downstream_gene_variant SKCA-BR 19 40710590 40710590 single base substitution A G exon_variant SKCA-BR 19 40710590 40710590 single base substitution A G intron_variant SKCA-BR 19 40710590 40710590 single base substitution A G upstream_gene_variant SKCA-BR 19 40711023 40711023 single base substitution C T downstream_gene_variant SKCA-BR 19 40711023 40711023 single base substitution C T exon_variant SKCA-BR 19 40711023 40711023 single base substitution C T splice_region_variant SKCA-BR 19 40711023 40711023 single base substitution C T upstream_gene_variant SKCA-BR 19 40711757 40711757 single base substitution T C downstream_gene_variant SKCA-BR 19 40711757 40711757 single base substitution T C intron_variant SKCA-BR 19 40711757 40711757 single base substitution T C upstream_gene_variant SKCA-BR 19 40711761 40711761 single base substitution T C downstream_gene_variant SKCA-BR 19 40711761 40711761 single base substitution T C intron_variant SKCA-BR 19 40711761 40711761 single base substitution T C upstream_gene_variant SKCA-BR 19 40711789 40711789 single base substitution T C downstream_gene_variant SKCA-BR 19 40711789 40711789 single base substitution T C intron_variant SKCA-BR 19 40711789 40711789 single base substitution T C upstream_gene_variant SKCA-BR 19 40712222 40712222 single base substitution C T downstream_gene_variant SKCA-BR 19 40712222 40712222 single base substitution C T exon_variant SKCA-BR 19 40712222 40712222 single base substitution C T intron_variant SKCA-BR 19 40712222 40712222 single base substitution C T upstream_gene_variant SKCA-BR 19 40713494 40713494 single base substitution T A downstream_gene_variant SKCA-BR 19 40713494 40713494 single base substitution T A intron_variant SKCA-BR 19 40713494 40713494 single base substitution T A upstream_gene_variant SKCA-BR 19 40714252 40714252 insertion of <=200bp - CTTTCT downstream_gene_variant SKCA-BR 19 40714252 40714252 insertion of <=200bp - CTTTCT intron_variant SKCA-BR 19 40714252 40714252 insertion of <=200bp - CTTTCT upstream_gene_variant SKCA-BR 19 40714928 40714928 single base substitution C T downstream_gene_variant SKCA-BR 19 40714928 40714928 single base substitution C T intron_variant SKCA-BR 19 40714928 40714928 single base substitution C T upstream_gene_variant SKCA-BR 19 40715912 40715912 single base substitution C T downstream_gene_variant SKCA-BR 19 40715912 40715912 single base substitution C T intron_variant SKCA-BR 19 40717224 40717225 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 19 40717224 40717225 deletion of <=200bp CT - intron_variant SKCA-BR 19 40719719 40719719 single base substitution T C 3_prime_UTR_variant SKCA-BR 19 40719719 40719719 single base substitution T C downstream_gene_variant SKCA-BR 19 40719719 40719719 single base substitution T C synonymous_variant F711F 2133T>C SKCA-BR 19 40719883 40719883 single base substitution G T 3_prime_UTR_variant SKCA-BR 19 40719883 40719883 single base substitution G T downstream_gene_variant SKCA-BR 19 40719883 40719883 single base substitution G T missense_variant S766I 2297G>T SKCA-BR 19 40723993 40723993 single base substitution T C downstream_gene_variant SKCA-BR 19 40725754 40725754 single base substitution C T downstream_gene_variant SKCM-US 19 40698283 40698283 single base substitution C T exon_variant SKCM-US 19 40698283 40698283 single base substitution C T synonymous_variant A115A 345C>T SKCM-US 19 40698547 40698547 single base substitution G T splice_region_variant SKCM-US 19 40698547 40698547 single base substitution G T synonymous_variant V203V 609G>T SKCM-US 19 40710533 40710533 single base substitution C T downstream_gene_variant SKCM-US 19 40710533 40710533 single base substitution C T exon_variant SKCM-US 19 40710533 40710533 single base substitution C T intron_variant SKCM-US 19 40710533 40710533 single base substitution C T synonymous_variant L335L 1005C>T SKCM-US 19 40710533 40710533 single base substitution C T upstream_gene_variant SKCM-US 19 40715072 40715072 single base substitution G A 3_prime_UTR_variant SKCM-US 19 40715072 40715072 single base substitution G A downstream_gene_variant SKCM-US 19 40715072 40715072 single base substitution G A exon_variant SKCM-US 19 40715072 40715072 single base substitution G A missense_variant G500R 1498G>A SKCM-US 19 40715123 40715123 single base substitution C T 3_prime_UTR_variant SKCM-US 19 40715123 40715123 single base substitution C T downstream_gene_variant SKCM-US 19 40715123 40715123 single base substitution C T exon_variant SKCM-US 19 40715123 40715123 single base substitution C T missense_variant R517C 1549C>T SKCM-US 19 40718847 40718847 single base substitution C T 3_prime_UTR_variant SKCM-US 19 40718847 40718847 single base substitution C T downstream_gene_variant SKCM-US 19 40718847 40718847 single base substitution C T exon_variant SKCM-US 19 40718847 40718847 single base substitution C T missense_variant S563F 1688C>T SKCM-US 19 40719021 40719021 single base substitution C T 3_prime_UTR_variant SKCM-US 19 40719021 40719021 single base substitution C T downstream_gene_variant SKCM-US 19 40719021 40719021 single base substitution C T exon_variant SKCM-US 19 40719021 40719021 single base substitution C T missense_variant S588L 1763C>T SKCM-US 19 40719064 40719064 single base substitution C T 3_prime_UTR_variant SKCM-US 19 40719064 40719064 single base substitution C T downstream_gene_variant SKCM-US 19 40719064 40719064 single base substitution C T exon_variant SKCM-US 19 40719064 40719064 single base substitution C T synonymous_variant I602I 1806C>T SKCM-US 19 40719431 40719431 single base substitution C T 3_prime_UTR_variant SKCM-US 19 40719431 40719431 single base substitution C T downstream_gene_variant SKCM-US 19 40719431 40719431 single base substitution C T exon_variant SKCM-US 19 40719431 40719431 single base substitution C T synonymous_variant F615F 1845C>T SKCM-US 19 40719487 40719487 single base substitution C T 3_prime_UTR_variant SKCM-US 19 40719487 40719487 single base substitution C T downstream_gene_variant SKCM-US 19 40719487 40719487 single base substitution C T exon_variant SKCM-US 19 40719487 40719487 single base substitution C T missense_variant S634F 1901C>T SKCM-US 19 40719516 40719516 single base substitution C T 3_prime_UTR_variant SKCM-US 19 40719516 40719516 single base substitution C T downstream_gene_variant SKCM-US 19 40719516 40719516 single base substitution C T exon_variant SKCM-US 19 40719516 40719516 single base substitution C T missense_variant P644S 1930C>T SKCM-US 19 40719522 40719522 single base substitution C T 3_prime_UTR_variant SKCM-US 19 40719522 40719522 single base substitution C T downstream_gene_variant SKCM-US 19 40719522 40719522 single base substitution C T exon_variant SKCM-US 19 40719522 40719522 single base substitution C T missense_variant P646S 1936C>T SKCM-US 19 40720917 40720917 single base substitution C T 3_prime_UTR_variant SKCM-US 19 40720917 40720917 single base substitution C T downstream_gene_variant SKCM-US 19 40720917 40720917 single base substitution C T synonymous_variant P861P 2583C>T SKCM-US 19 40720929 40720929 single base substitution C T 3_prime_UTR_variant SKCM-US 19 40720929 40720929 single base substitution C T downstream_gene_variant SKCM-US 19 40720929 40720929 single base substitution C T synonymous_variant F865F 2595C>T SKCM-US 19 40720956 40720956 single base substitution C T 3_prime_UTR_variant SKCM-US 19 40720956 40720956 single base substitution C T downstream_gene_variant SKCM-US 19 40720956 40720956 single base substitution C T synonymous_variant F874F 2622C>T SKCM-US 19 40721043 40721043 single base substitution C T 3_prime_UTR_variant SKCM-US 19 40721043 40721043 single base substitution C T downstream_gene_variant SKCM-US 19 40721043 40721043 single base substitution C T synonymous_variant S903S 2709C>T STAD-US 19 40698259 40698259 single base substitution G T exon_variant STAD-US 19 40698259 40698259 single base substitution G T synonymous_variant G107G 321G>T STAD-US 19 40698374 40698374 single base substitution G T intron_variant STAD-US 19 40698374 40698374 single base substitution G T missense_variant A146S 436G>T STAD-US 19 40704384 40704384 single base substitution G A exon_variant STAD-US 19 40704384 40704384 single base substitution G A missense_variant S262N 785G>A STAD-US 19 40710471 40710471 single base substitution G A exon_variant STAD-US 19 40710471 40710471 single base substitution G A intron_variant STAD-US 19 40710471 40710471 single base substitution G A missense_variant V315M 943G>A STAD-US 19 40710471 40710471 single base substitution G A upstream_gene_variant STAD-US 19 40712031 40712031 single base substitution C T 3_prime_UTR_variant STAD-US 19 40712031 40712031 single base substitution C T downstream_gene_variant STAD-US 19 40712031 40712031 single base substitution C T exon_variant STAD-US 19 40712031 40712031 single base substitution C T intron_variant STAD-US 19 40712031 40712031 single base substitution C T missense_variant R468W 1402C>T STAD-US 19 40712031 40712031 single base substitution C T upstream_gene_variant STAD-US 19 40712065 40712065 single base substitution G A downstream_gene_variant STAD-US 19 40712065 40712065 single base substitution G A exon_variant STAD-US 19 40712065 40712065 single base substitution G A intron_variant STAD-US 19 40712065 40712065 single base substitution G A splice_donor_variant STAD-US 19 40712065 40712065 single base substitution G A upstream_gene_variant STAD-US 19 40715080 40715080 deletion of <=200bp C - 3_prime_UTR_variant STAD-US 19 40715080 40715080 deletion of <=200bp C - downstream_gene_variant STAD-US 19 40715080 40715080 deletion of <=200bp C - exon_variant STAD-US 19 40715080 40715080 deletion of <=200bp C - frameshift_variant S502 STAD-US 19 40718777 40718777 single base substitution C T 3_prime_UTR_variant STAD-US 19 40718777 40718777 single base substitution C T downstream_gene_variant STAD-US 19 40718777 40718777 single base substitution C T exon_variant STAD-US 19 40718777 40718777 single base substitution C T missense_variant R540C 1618C>T STAD-US 19 40718828 40718828 single base substitution C T 3_prime_UTR_variant STAD-US 19 40718828 40718828 single base substitution C T downstream_gene_variant STAD-US 19 40718828 40718828 single base substitution C T exon_variant STAD-US 19 40718828 40718828 single base substitution C T stop_gained R557* 1669C>T STAD-US 19 40721046 40721046 single base substitution C T 3_prime_UTR_variant STAD-US 19 40721046 40721046 single base substitution C T downstream_gene_variant STAD-US 19 40721046 40721046 single base substitution C T synonymous_variant F904F 2712C>T STAD-US 19 40723198 40723198 deletion of <=200bp C - downstream_gene_variant STAD-US 19 40724061 40724061 single base substitution A G downstream_gene_variant THCA-US 19 40722102 40722102 single base substitution C T downstream_gene_variant UCEC-US 19 40698268 40698268 single base substitution C T exon_variant UCEC-US 19 40698268 40698268 single base substitution C T synonymous_variant G110G 330C>T UCEC-US 19 40698354 40698354 single base substitution C T exon_variant UCEC-US 19 40698354 40698354 single base substitution C T missense_variant A139V 416C>T UCEC-US 19 40698397 40698397 single base substitution G A intron_variant UCEC-US 19 40698397 40698397 single base substitution G A synonymous_variant Q153Q 459G>A UCEC-US 19 40698469 40698469 single base substitution C A intron_variant UCEC-US 19 40698469 40698469 single base substitution C A synonymous_variant A177A 531C>A UCEC-US 19 40698582 40698582 single base substitution C A exon_variant UCEC-US 19 40698582 40698582 single base substitution C A missense_variant P215H 644C>A UCEC-US 19 40704357 40704357 single base substitution G A exon_variant UCEC-US 19 40704357 40704357 single base substitution G A missense_variant R253H 758G>A UCEC-US 19 40710395 40710395 single base substitution C T exon_variant UCEC-US 19 40710395 40710395 single base substitution C T intron_variant UCEC-US 19 40710395 40710395 single base substitution C T synonymous_variant F289F 867C>T UCEC-US 19 40710395 40710395 single base substitution C T upstream_gene_variant UCEC-US 19 40710446 40710446 single base substitution C T exon_variant UCEC-US 19 40710446 40710446 single base substitution C T intron_variant UCEC-US 19 40710446 40710446 single base substitution C T synonymous_variant I306I 918C>T UCEC-US 19 40710446 40710446 single base substitution C T upstream_gene_variant UCEC-US 19 40710516 40710516 single base substitution G A exon_variant UCEC-US 19 40710516 40710516 single base substitution G A intron_variant UCEC-US 19 40710516 40710516 single base substitution G A missense_variant E330K 988G>A UCEC-US 19 40710516 40710516 single base substitution G A upstream_gene_variant UCEC-US 19 40711848 40711848 single base substitution C T 3_prime_UTR_variant UCEC-US 19 40711848 40711848 single base substitution C T downstream_gene_variant UCEC-US 19 40711848 40711848 single base substitution C T exon_variant UCEC-US 19 40711848 40711848 single base substitution C T intron_variant UCEC-US 19 40711848 40711848 single base substitution C T missense_variant R407W 1219C>T UCEC-US 19 40711848 40711848 single base substitution C T upstream_gene_variant UCEC-US 19 40711893 40711893 single base substitution C T 3_prime_UTR_variant UCEC-US 19 40711893 40711893 single base substitution C T downstream_gene_variant UCEC-US 19 40711893 40711893 single base substitution C T exon_variant UCEC-US 19 40711893 40711893 single base substitution C T intron_variant UCEC-US 19 40711893 40711893 single base substitution C T missense_variant R422W 1264C>T UCEC-US 19 40711893 40711893 single base substitution C T upstream_gene_variant UCEC-US 19 40711982 40711982 single base substitution G T 3_prime_UTR_variant UCEC-US 19 40711982 40711982 single base substitution G T downstream_gene_variant UCEC-US 19 40711982 40711982 single base substitution G T exon_variant UCEC-US 19 40711982 40711982 single base substitution G T intron_variant UCEC-US 19 40711982 40711982 single base substitution G T synonymous_variant R451R 1353G>T UCEC-US 19 40711982 40711982 single base substitution G T upstream_gene_variant UCEC-US 19 40718824 40718824 single base substitution G T 3_prime_UTR_variant UCEC-US 19 40718824 40718824 single base substitution G T downstream_gene_variant UCEC-US 19 40718824 40718824 single base substitution G T exon_variant UCEC-US 19 40718824 40718824 single base substitution G T missense_variant K555N 1665G>T UCEC-US 19 40722126 40722126 single base substitution T G downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-FW-A3R5-06 COSM3892567 c.1930C>T p.P644S Substitution - Missense 19:40213609-40213609 + TCGA-29-1699-01 COSM1325254 c.1172T>C p.L391P Substitution - Missense 19:40205280-40205280 + WSU-HN13 COSM4590244 c.272A>C p.Q91P Substitution - Missense 19:40192303-40192303 + T3064 COSM4700272 c.2577C>T p.P859P Substitution - coding silent 19:40215004-40215004 + ME024T COSM226387 c.464C>T p.P155L Substitution - Missense 19:40192495-40192495 + EGC15 COSM4611771 c.1737delG p.E581fs*96 Deletion - Frameshift 19:40213088-40213088 + 2492702 COSM5599885 c.2306C>T p.A769V Substitution - Missense 19:40213985-40213985 + T3509 COSM4700269 c.353G>A p.R118H Substitution - Missense 19:40192384-40192384 + TCGA-EE-A29C-06 COSM3533997 c.1005C>T p.L335L Substitution - coding silent 19:40204626-40204626 + CSCC-44-T COSM4457095 c.1032C>T p.P344P Substitution - coding silent 19:40205140-40205140 + TCGA-EF-5830-01 COSM3749510 c.2493C>T p.D831D Substitution - coding silent 19:40214172-40214172 + 2290929 COSM4440521 c.1129C>A p.Q377K Substitution - Missense 19:40205237-40205237 + Au2 COSM5599885 c.2306C>T p.A769V Substitution - Missense 19:40213985-40213985 + LUAD-CHTN-Z4716A COSM361967 c.860G>T p.W287L Substitution - Missense 19:40198552-40198552 + BD111T COSM5520828 c.2787C>T p.P929P Substitution - coding silent 19:40215214-40215214 + 2492700 COSM5599886 c.2640C>T p.T880T Substitution - coding silent 19:40215067-40215067 + B16-Tumor COSM3933048 c.1012+2T>G p.? Unknown 19:40204635-40204635 + TCGA-FS-A1ZS-06 COSM3533999 c.1549C>T p.R517C Substitution - Missense 19:40209216-40209216 + TCGA-EJ-A65M-01 COSM4392376 c.1552+1G>A p.? Unknown 19:40209220-40209220 + PT37 COSM5921469 c.611C>T p.A204V Substitution - Missense 19:40192642-40192642 + RKO COSM4614839 c.148_149delTG p.A51fs*81 Deletion - Frameshift 19:40192179-40192180 + TCGA-CJ-6028-01 COSM474739 c.2630G>T p.R877L Substitution - Missense 19:40215057-40215057 + ESO-179 COSM1257260 c.237C>T p.G79G Substitution - coding silent 19:40192268-40192268 + 2492712 COSM5389784 c.2688G>A p.L896L Substitution - coding silent 19:40215115-40215115 + BD124T COSM439517 c.1036G>A p.G346R Substitution - Missense 19:40205144-40205144 + Au5 COSM5605867 c.1299C>T p.I433I Substitution - coding silent 19:40206021-40206021 + SWE-25 COSM1179194 c.740C>T p.T247M Substitution - Missense 19:40198432-40198432 + sysucc-1317T COSM5449278 c.57C>T p.P19P Substitution - coding silent 19:40192088-40192088 + 587350 COSM1214387 c.1189-1G>T p.? Unknown 19:40205910-40205910 + NOKSI COSM4590244 c.272A>C p.Q91P Substitution - Missense 19:40192303-40192303 + TCGA-D1-A103-01 COSM996600 c.758G>A p.R253H Substitution - Missense 19:40198450-40198450 + MO_1221 COSM5566889 c.2419C>T p.R807C Substitution - Missense 19:40214098-40214098 + Pat_40_B COSM5855771 c.563G>A p.G188D Substitution - Missense 19:40192594-40192594 + TCGA-EK-A2RC-01 COSM4848592 c.2543G>A p.G848D Substitution - Missense 19:40214970-40214970 + PCSI_0468_Pa_P_526 COSM4809287 c.2548C>T p.R850C Substitution - Missense 19:40214975-40214975 + I2L-P19Ta-Tumor-Organoid COSM5365021 c.368C>A p.A123E Substitution - Missense 19:40192399-40192399 + LS411 COSM3225192 c.549C>T p.S183S Substitution - coding silent 19:40192580-40192580 + YURAY COSM5389782 c.1183G>A p.E395K Substitution - Missense 19:40205291-40205291 + 2492701 COSM5599885 c.2306C>T p.A769V Substitution - Missense 19:40213985-40213985 + GBM_IV-20 COSM4967025 c.2287C>G p.R763G Substitution - Missense 19:40213966-40213966 + TCGA-AA-3510-01 COSM1393768 c.786C>T p.S262S Substitution - coding silent 19:40198478-40198478 + LC_C6 COSM1190042 c.1558C>A p.P520T Substitution - Missense 19:40212810-40212810 + sysucc-274T COSM5476070 c.1270C>T p.Q424* Substitution - Nonsense 19:40205992-40205992 + TCGA-EE-A181-06 COSM3534003 c.1936C>T p.P646S Substitution - Missense 19:40213615-40213615 + TCGA-CG-5721-01 COSM4078145 c.321G>T p.G107G Substitution - coding silent 19:40192352-40192352 + 2492716 COSM5719110 c.1524C>A p.S508R Substitution - Missense 19:40209191-40209191 + 2492725 COSM5725367 c.2138G>A p.R713H Substitution - Missense 19:40213817-40213817 + TCGA-KK-A59V-01 COSM78046 c.2570G>A p.R857H Substitution - Missense 19:40214997-40214997 + TCGA-BP-4790-01 COSM3362854 c.320G>T p.G107V Substitution - Missense 19:40192351-40192351 + BICR_22 COSM4590244 c.272A>C p.Q91P Substitution - Missense 19:40192303-40192303 + COLO205 COSM4621377 c.2484G>A p.T828T Substitution - coding silent 19:40214163-40214163 + HT55 COSM4638735 c.2373C>T p.T791T Substitution - coding silent 19:40214052-40214052 + TCGA-KK-A59V-01 COSM4457567 c.1050C>T p.F350F Substitution - coding silent 19:40205158-40205158 + TCGA-CJ-4644-01 COSM1136192 c.726G>A p.T242T Substitution - coding silent 19:40198418-40198418 + WSU-HN12 COSM4590244 c.272A>C p.Q91P Substitution - Missense 19:40192303-40192303 + WSU-HN8 COSM4597202 c.1412G>C p.G471A Substitution - Missense 19:40206134-40206134 + BHY COSM4590238 c.263A>C p.Q88P Substitution - Missense 19:40192294-40192294 + TCGA-BR-6852-01 COSM4078147 c.785G>A p.S262N Substitution - Missense 19:40198477-40198477 + TCGA-G2-A3IE-01 COSM1304585 c.1009G>A p.E337K Substitution - Missense 19:40204630-40204630 + PTC-28C COSM4131837 c.2598A>T p.P866P Substitution - coding silent 19:40215025-40215025 + TCGA-HT-A5RB-01 COSM3970986 c.1786T>C p.S596P Substitution - Missense 19:40213137-40213137 + TCGA-A2-A0CX-01 COSM439515 c.839T>A p.F280Y Substitution - Missense 19:40198531-40198531 + LP6007523-DNA_A01 COSM4078148 c.943G>A p.V315M Substitution - Missense 19:40204564-40204564 + TCGA-D5-6540-01 COSM1393776 c.2810_2811insG p.Q939fs*>17 Insertion - Frameshift 19:40215237-40215238 + TCGA-DA-A1I5-06 COSM3534000 c.1763C>T p.S588L Substitution - Missense 19:40213114-40213114 + T3498 COSM4700271 c.1307G>A p.R436Q Substitution - Missense 19:40206029-40206029 + ESCC_101 COSM5637944 c.1995C>T p.H665H Substitution - coding silent 19:40213674-40213674 + PTC-7C COSM1612259 c.1818T>C p.F606F Substitution - coding silent 19:40213169-40213169 + 8068595 COSM4406594 c.365T>G p.V122G Substitution - Missense 19:40192396-40192396 + 93VU147T COSM4590244 c.272A>C p.Q91P Substitution - Missense 19:40192303-40192303 + pfg054T COSM4753485 c.1807G>A p.A603T Substitution - Missense 19:40213158-40213158 + TCGA-AY-6196-01 COSM3749510 c.2493C>T p.D831D Substitution - coding silent 19:40214172-40214172 + TCGA-AF-6136-01 COSM3749510 c.2493C>T p.D831D Substitution - coding silent 19:40214172-40214172 + CAL33 COSM4590244 c.272A>C p.Q91P Substitution - Missense 19:40192303-40192303 + T2944 COSM4700270 c.894delG p.E300fs*18 Deletion - Frameshift 19:40204515-40204515 + CSCC-16-T COSM4483685 c.2724C>G p.L908L Substitution - coding silent 19:40215151-40215151 + Au2 COSM5599886 c.2640C>T p.T880T Substitution - coding silent 19:40215067-40215067 + 16628 COSM48521 c.1388G>C p.R463P Substitution - Missense 19:40206110-40206110 + BD246T COSM1393774 c.2655G>A p.P885P Substitution - coding silent 19:40215082-40215082 + YUGURT COSM5389784 c.2688G>A p.L896L Substitution - coding silent 19:40215115-40215115 + ML_89_T_01 COSM996600 c.758G>A p.R253H Substitution - Missense 19:40198450-40198450 + CSCC-19-T COSM4457567 c.1050C>T p.F350F Substitution - coding silent 19:40205158-40205158 + G6 COSM1191917 c.723C>A p.D241E Substitution - Missense 19:40198415-40198415 + 3 COSM87792 c.910C>T p.R304C Substitution - Missense 19:40204531-40204531 + SCC-15 COSM4590238 c.263A>C p.Q88P Substitution - Missense 19:40192294-40192294 + 3498_T COSM3960067 c.717C>T p.L239L Substitution - coding silent 19:40198409-40198409 + 587342 COSM1214388 c.1880C>A p.P627H Substitution - Missense 19:40213559-40213559 + RMS80_ COSM4988638 c.1942G>A p.A648T Substitution - Missense 19:40213621-40213621 + CAL33 COSM4590238 c.263A>C p.Q88P Substitution - Missense 19:40192294-40192294 + 9642_PT COSM3225197 c.802G>A p.A268T Substitution - Missense 19:40198494-40198494 + PD9760a COSM5796798 c.1440T>G p.F480L Substitution - Missense 19:40209107-40209107 + TCGA-D3-A5GO-06 COSM3534005 c.2595C>T p.F865F Substitution - coding silent 19:40215022-40215022 + RKO COSM3225208 c.1318C>T p.L440L Substitution - coding silent 19:40206040-40206040 + S02384 COSM5698334 c.1944G>C p.A648A Substitution - coding silent 19:40213623-40213623 + ZZUFHECRKL-G043T COSM5433711 c.812C>T p.A271V Substitution - Missense 19:40198504-40198504 + HCC12 COSM1612260 c.2314G>A p.A772T Substitution - Missense 19:40213993-40213993 + Au8 COSM5389784 c.2688G>A p.L896L Substitution - coding silent 19:40215115-40215115 + TCGA-EK-A3GK-01 COSM4853403 c.276G>A p.E92E Substitution - coding silent 19:40192307-40192307 + BD72T COSM5513532 c.748G>A p.G250S Substitution - Missense 19:40198440-40198440 + TCGA-D9-A6EC-06 COSM4400259 c.1688C>T p.S563F Substitution - Missense 19:40212940-40212940 + UM-SCC-11B COSM4590238 c.263A>C p.Q88P Substitution - Missense 19:40192294-40192294 + 2492711 COSM5389784 c.2688G>A p.L896L Substitution - coding silent 19:40215115-40215115 + TCGA-BR-4361-01 COSM4078146 c.436G>T p.A146S Substitution - Missense 19:40192467-40192467 + TCGA-DD-A11D-01 COSM3225198 c.816G>A p.P272P Substitution - coding silent 19:40198508-40198508 + TCGA-BR-4361-01 COSM3225209 c.1402C>T p.R468W Substitution - Missense 19:40206124-40206124 + HCC137T COSM1612259 c.1818T>C p.F606F Substitution - coding silent 19:40213169-40213169 + sysucc-1944T COSM5764928 c.2328A>C p.P776P Substitution - coding silent 19:40214007-40214007 + TCGA-D1-A163-01 COSM996602 c.791C>A p.A264E Substitution - Missense 19:40198483-40198483 + TCGA-AO-A129-01 COSM439519 c.2659C>G p.P887A Substitution - Missense 19:40215086-40215086 + TCGA-B8-4153-01 COSM474738 c.416C>A p.A139E Substitution - Missense 19:40192447-40192447 + 2492714 COSM5389784 c.2688G>A p.L896L Substitution - coding silent 19:40215115-40215115 + LIM2551 COSM4644210 c.17G>A p.G6E Substitution - Missense 19:40192048-40192048 + TCGA-D1-A17H-01 COSM996590 c.330C>T p.G110G Substitution - coding silent 19:40192361-40192361 + CSCC-29-T COSM4479431 c.2324C>T p.S775F Substitution - Missense 19:40214003-40214003 + 17746 COSM48522 c.2650G>T p.A884S Substitution - Missense 19:40215077-40215077 + TCGA-FW-A3R5-06 COSM3892565 c.345C>T p.A115A Substitution - coding silent 19:40192376-40192376 + TCGA-AZ-4615-01 COSM3692764 c.1381C>T p.R461C Substitution - Missense 19:40206103-40206103 + TCGA-AG-3599-01 COSM288021 c.1110G>A p.L370L Substitution - coding silent 19:40205218-40205218 + TCGA-EA-A50E-01 COSM4822111 c.1344G>A p.E448E Substitution - coding silent 19:40206066-40206066 + ME043T COSM228706 c.2710T>C p.F904L Substitution - Missense 19:40215137-40215137 + TCGA-G9-6496-01 COSM1129853 c.581A>G p.H194R Substitution - Missense 19:40192612-40192612 + B90 COSM1750899 c.1766G>A p.S589N Substitution - Missense 19:40213117-40213117 + WSU-HN13 COSM4590238 c.263A>C p.Q88P Substitution - Missense 19:40192294-40192294 + CAL27 COSM4590244 c.272A>C p.Q91P Substitution - Missense 19:40192303-40192303 + TCGA-CG-5721-01 COSM4078151 c.2712C>T p.F904F Substitution - coding silent 19:40215139-40215139 + TCGA-ER-A2NC-06 COSM3534001 c.1806C>T p.I602I Substitution - coding silent 19:40213157-40213157 + HCT8 COSM4634418 c.80A>G p.Y27C Substitution - Missense 19:40192111-40192111 + TCGA-EI-6882-01 COSM3422823 c.1618C>T p.R540C Substitution - Missense 19:40212870-40212870 + UM-SCC-2 COSM4590238 c.263A>C p.Q88P Substitution - Missense 19:40192294-40192294 + UM-SCC-47 COSM4590238 c.263A>C p.Q88P Substitution - Missense 19:40192294-40192294 + TCGA-B5-A11E-01 COSM996592 c.416C>T p.A139V Substitution - Missense 19:40192447-40192447 + SCC-9 COSM4590244 c.272A>C p.Q91P Substitution - Missense 19:40192303-40192303 + CAL27 COSM4590238 c.263A>C p.Q88P Substitution - Missense 19:40192294-40192294 + BD236T COSM5519668 c.2433G>A p.T811T Substitution - coding silent 19:40214112-40214112 + TCGA-CI-6620-01 COSM3749510 c.2493C>T p.D831D Substitution - coding silent 19:40214172-40214172 + TCGA-AD-6964-01 COSM1393773 c.1915C>T p.P639S Substitution - Missense 19:40213594-40213594 + 2492703 COSM5599885 c.2306C>T p.A769V Substitution - Missense 19:40213985-40213985 + ZZUFHECRKL-G060T COSM1612259 c.1818T>C p.F606F Substitution - coding silent 19:40213169-40213169 + BN04T COSM1612261 c.2357C>T p.T786M Substitution - Missense 19:40214036-40214036 + 18 COSM5364754 c.15delG p.A7fs*29 Deletion - Frameshift 19:40192046-40192046 + 2492715 COSM5719110 c.1524C>A p.S508R Substitution - Missense 19:40209191-40209191 + TCGA-AP-A051-01 COSM996598 c.644C>A p.P215H Substitution - Missense 19:40192675-40192675 + TCGA-23-1028-01 COSM78046 c.2570G>A p.R857H Substitution - Missense 19:40214997-40214997 + TCGA-G4-6628-01 COSM1393774 c.2655G>A p.P885P Substitution - coding silent 19:40215082-40215082 + TCGA-D1-A103-01 COSM996615 c.1665G>T p.K555N Substitution - Missense 19:40212917-40212917 + SW1463 COSM4655112 c.1237C>T p.R413C Substitution - Missense 19:40205959-40205959 + PTC-50C COSM3749510 c.2493C>T p.D831D Substitution - coding silent 19:40214172-40214172 + TCGA-AY-6386-01 COSM3749510 c.2493C>T p.D831D Substitution - coding silent 19:40214172-40214172 + 2492717 COSM5719110 c.1524C>A p.S508R Substitution - Missense 19:40209191-40209191 + B90-Tumor COSM1750899 c.1766G>A p.S589N Substitution - Missense 19:40213117-40213117 + I2L-P7-Tumor-Organoid COSM5364754 c.15delG p.A7fs*29 Deletion - Frameshift 19:40192046-40192046 + SCC-15 COSM4597202 c.1412G>C p.G471A Substitution - Missense 19:40206134-40206134 + UM-SCC-17B COSM4590238 c.263A>C p.Q88P Substitution - Missense 19:40192294-40192294 + TCGA-BS-A0UF-01 COSM996604 c.867C>T p.F289F Substitution - coding silent 19:40204488-40204488 + TCGA-AC-A23H-01 COSM3823112 c.546G>A p.L182L Substitution - coding silent 19:40192577-40192577 + TCGA-KK-A59V-01 COSM4878903 c.1847C>T p.A616V Substitution - Missense 19:40213526-40213526 + WSU-HN13 COSM4597202 c.1412G>C p.G471A Substitution - Missense 19:40206134-40206134 + TCGA-D7-A4YV-01 COSM3422823 c.1618C>T p.R540C Substitution - Missense 19:40212870-40212870 + TCGA-AA-3663-01 COSM1393769 c.1175G>A p.R392Q Substitution - Missense 19:40205283-40205283 + TCGA-AP-A059-01 COSM566364 c.918C>T p.I306I Substitution - coding silent 19:40204539-40204539 + 8013294 COSM3389010 c.358G>A p.E120K Substitution - Missense 19:40192389-40192389 + OSCC-GB_00950111 COSM4881923 c.2273C>A p.T758K Substitution - Missense 19:40213952-40213952 + WSU-HN30 COSM4590244 c.272A>C p.Q91P Substitution - Missense 19:40192303-40192303 + TCGA-BR-8361-01 COSM4078150 c.1669C>T p.R557* Substitution - Nonsense 19:40212921-40212921 + 3844_T COSM3960068 c.1779G>T p.L593L Substitution - coding silent 19:40213130-40213130 + S02352 COSM5695328 c.1954T>G p.W652G Substitution - Missense 19:40213633-40213633 + WSU-HN12 COSM4590238 c.263A>C p.Q88P Substitution - Missense 19:40192294-40192294 + T2664 COSM4483023 c.2662C>T p.R888W Substitution - Missense 19:40215089-40215089 + BD231T COSM5496934 c.893C>T p.T298M Substitution - Missense 19:40204514-40204514 + TCGA-EE-A2MJ-06 COSM3534002 c.1901C>T p.S634F Substitution - Missense 19:40213580-40213580 + TCGA-AA-3821-01 COSM294542 c.476C>T p.A159V Substitution - Missense 19:40192507-40192507 + HCC12T COSM1612260 c.2314G>A p.A772T Substitution - Missense 19:40213993-40213993 + CSCC-11-T COSM3960067 c.717C>T p.L239L Substitution - coding silent 19:40198409-40198409 + CSCC-44-T COSM4470911 c.1689C>T p.S563S Substitution - coding silent 19:40212941-40212941 + TCGA-C8-A137-01 COSM439518 c.1306C>T p.R436W Substitution - Missense 19:40206028-40206028 + YUDUTY COSM1712291 c.974C>T p.P325L Substitution - Missense 19:40204595-40204595 + 9642_CLM COSM3225197 c.802G>A p.A268T Substitution - Missense 19:40198494-40198494 + TCGA-FW-A3R5-06 COSM3892568 c.2622C>T p.F874F Substitution - coding silent 19:40215049-40215049 + TCGA-AP-A0LM-01 COSM996607 c.988G>A p.E330K Substitution - Missense 19:40204609-40204609 + DLD1 COSM4623979 c.253G>A p.A85T Substitution - Missense 19:40192284-40192284 + Gp2D COSM4611771 c.1737delG p.E581fs*96 Deletion - Frameshift 19:40213088-40213088 + TCGA-EB-A5UN-06 COSM3533998 c.1498G>A p.G500R Substitution - Missense 19:40209165-40209165 + 93VU147T COSM4590238 c.263A>C p.Q88P Substitution - Missense 19:40192294-40192294 + 8067246 COSM566364 c.918C>T p.I306I Substitution - coding silent 19:40204539-40204539 + H1155 COSM1195568 c.512G>A p.C171Y Substitution - Missense 19:40192543-40192543 + VACO4S COSM4657199 c.1833G>A p.E611E Substitution - coding silent 19:40213184-40213184 + SC_9055 COSM5550641 c.2527G>A p.A843T Substitution - Missense 19:40214206-40214206 + WSU-HN8 COSM4590244 c.272A>C p.Q91P Substitution - Missense 19:40192303-40192303 + 2492700 COSM5599885 c.2306C>T p.A769V Substitution - Missense 19:40213985-40213985 + HCC058T COSM5804990 c.1281A>T p.A427A Substitution - coding silent 19:40206003-40206003 + YUKAT COSM5389783 c.1886C>T p.P629L Substitution - Missense 19:40213565-40213565 + TCGA-D3-A2JN-06 COSM3534006 c.2709C>T p.S903S Substitution - coding silent 19:40215136-40215136 + CHC303T COSM4957818 c.58G>T p.V20F Substitution - Missense 19:40192089-40192089 + CHC303T COSM4957818 c.58G>T p.V20F Substitution - Missense 19:40192089-40192089 + PT20_2 COSM5900827 c.1489G>A p.G497R Substitution - Missense 19:40209156-40209156 + TCGA-CG-4306-01 COSM4078148 c.943G>A p.V315M Substitution - Missense 19:40204564-40204564 + 2492701 COSM5599886 c.2640C>T p.T880T Substitution - coding silent 19:40215067-40215067 + AOCS-088-3-8 COSM4140642 c.472A>T p.I158F Substitution - Missense 19:40192503-40192503 + TCGA-FW-A3R5-06 COSM3892566 c.1845C>T p.F615F Substitution - coding silent 19:40213524-40213524 + SNU-175 COSM1179194 c.740C>T p.T247M Substitution - Missense 19:40198432-40198432 + UM-SCC-47 COSM4590244 c.272A>C p.Q91P Substitution - Missense 19:40192303-40192303 + TCGA-RP-A695-06 COSM4896440 c.609G>T p.V203V Substitution - coding silent 19:40192640-40192640 + BICR_22 COSM4590238 c.263A>C p.Q88P Substitution - Missense 19:40192294-40192294 + BCM723T COSM4956130 c.2152C>T p.P718S Substitution - Missense 19:40213831-40213831 + 2492703 COSM5599886 c.2640C>T p.T880T Substitution - coding silent 19:40215067-40215067 + TCGA-D1-A17Q-01 COSM566364 c.918C>T p.I306I Substitution - coding silent 19:40204539-40204539 + UM-SCC-2 COSM4590244 c.272A>C p.Q91P Substitution - Missense 19:40192303-40192303 + BCM739T COSM5347536 c.310_324del15 p.I104_G108delIGVGG Deletion - In frame 19:40192341-40192355 + SW48 COSM4656296 c.1195C>T p.R399W Substitution - Missense 19:40205917-40205917 + 2492718 COSM5719110 c.1524C>A p.S508R Substitution - Missense 19:40209191-40209191 + ORL-48 COSM4590244 c.272A>C p.Q91P Substitution - Missense 19:40192303-40192303 + S01512 COSM5668797 c.2422C>T p.Q808* Substitution - Nonsense 19:40214101-40214101 + TCGA-24-1567-01 COSM78045 c.698C>A p.A233D Substitution - Missense 19:40198390-40198390 + BCM723T COSM4956130 c.2152C>T p.P718S Substitution - Missense 19:40213831-40213831 + I2L-P7-Tumor-Organoid COSM5364761 c.498delC p.P168fs*5 Deletion - Frameshift 19:40192529-40192529 + TCGA-CG-5721-01 COSM4078149 c.1435+1G>A p.? Unknown 19:40206158-40206158 + TCGA-AP-A059-01 COSM996596 c.531C>A p.A177A Substitution - coding silent 19:40192562-40192562 + TCGA-D1-A103-01 COSM996613 c.1353G>T p.R451R Substitution - coding silent 19:40206075-40206075 + UM-SCC-4 COSM4590238 c.263A>C p.Q88P Substitution - Missense 19:40192294-40192294 + CSCC-46-T COSM4464874 c.1356C>T p.V452V Substitution - coding silent 19:40206078-40206078 + I2L-P19Ta-Tumor-Biopsy COSM5365021 c.368C>A p.A123E Substitution - Missense 19:40192399-40192399 + BD49T COSM5498337 c.790G>A p.A264T Substitution - Missense 19:40198482-40198482 + CP66-MEL COSM21061 c.320G>A p.G107E Substitution - Missense 19:40192351-40192351 + TCGA-AG-3726-01 COSM288225 c.697G>A p.A233T Substitution - Missense 19:40198389-40198389 + pfg100T COSM1179194 c.740C>T p.T247M Substitution - Missense 19:40198432-40198432 + LP6007504-DNA_A01 COSM4408801 c.2040G>A p.T680T Substitution - coding silent 19:40213719-40213719 + 087T COSM1731189 c.650C>T p.P217L Substitution - Missense 19:40192681-40192681 + ESCC_BICR_031T COSM5441072 c.285C>T p.F95F Substitution - coding silent 19:40192316-40192316 + TCGA-DM-A1D6-01 COSM1393775 c.2808G>A p.M936I Substitution - Missense 19:40215235-40215235 + TCGA-CK-5916-01 COSM3693294 c.718G>A p.A240T Substitution - Missense 19:40198410-40198410 + TCGA-D1-A17U-01 COSM996611 c.1264C>T p.R422W Substitution - Missense 19:40205986-40205986 + 2492702 COSM5599886 c.2640C>T p.T880T Substitution - coding silent 19:40215067-40215067 + SCC-9 COSM4590238 c.263A>C p.Q88P Substitution - Missense 19:40192294-40192294 + BN04 COSM1612261 c.2357C>T p.T786M Substitution - Missense 19:40214036-40214036 + 1909594 COSM1289287 c.921C>T p.D307D Substitution - coding silent 19:40204542-40204542 + CSCC-27-T COSM4483023 c.2662C>T p.R888W Substitution - Missense 19:40215089-40215089 + 8051722 COSM4407461 c.754G>A p.A252T Substitution - Missense 19:40198446-40198446 + TCGA-BS-A0UV-01 COSM996609 c.1219C>T p.R407W Substitution - Missense 19:40205941-40205941 + BD135T COSM5516844 c.753C>T p.L251L Substitution - coding silent 19:40198445-40198445 + S02376 COSM5697025 c.2283G>T p.L761L Substitution - coding silent 19:40213962-40213962 + Pat_44_B COSM5364754 c.15delG p.A7fs*29 Deletion - Frameshift 19:40192046-40192046 + TCGA-DD-A4NB-01 COSM4940853 c.366G>A p.V122V Substitution - coding silent 19:40192397-40192397 + I2L-P7-Tumor-Organoid COSM5365553 c.1863A>C p.G621G Substitution - coding silent 19:40213542-40213542 + TCGA-DK-A1AC-01 COSM1304586 c.1527C>T p.I509I Substitution - coding silent 19:40209194-40209194 + CP66-MEL COSM21061 c.320G>A p.G107E Substitution - Missense 19:40192351-40192351 + BD79T COSM3225222 c.1872C>T p.S624S Substitution - coding silent 19:40213551-40213551 + TCGA-A5-A0VQ-01 COSM996594 c.459G>A p.Q153Q Substitution - coding silent 19:40192490-40192490 + TCGA-D5-6928-01 COSM1393772 c.1876delC p.P627fs*50 Deletion - Frameshift 19:40213555-40213555 + WSU-HN8 COSM4590238 c.263A>C p.Q88P Substitution - Missense 19:40192294-40192294 + 2492719 COSM5719110 c.1524C>A p.S508R Substitution - Missense 19:40209191-40209191 + CRC-31T COSM5457838 c.1161G>A p.M387I Substitution - Missense 19:40205269-40205269 + sysucc-731T COSM5460212 c.1476G>T p.L492L Substitution - coding silent 19:40209143-40209143 + TCGA-ER-A193-06 COSM3534004 c.2583C>T p.P861P Substitution - coding silent 19:40215010-40215010 + 2492713 COSM5389784 c.2688G>A p.L896L Substitution - coding silent 19:40215115-40215115 + ESO-R61 COSM1257261 c.724A>G p.T242A Substitution - Missense 19:40198416-40198416 + Gp5D COSM4611771 c.1737delG p.E581fs*96 Deletion - Frameshift 19:40213088-40213088 + TCGA-G4-6628-01 COSM1393771 c.1506delC p.P504fs*10 Deletion - Frameshift 19:40209173-40209173 + SCC-25 COSM4590244 c.272A>C p.Q91P Substitution - Missense 19:40192303-40192303 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.466729;Hs.466743 19q13.2 600137

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.H194R c.581A>G 19 40698519 PRAD A G Missense p.T242A c.724A>G 19 40704323 ESCA C A Missense p.A139E c.416C>A 19 40698354 RCCC C A Missense p.A233D c.698C>A 19 40704297 OV CC TT Missense p.P781L c.2342_2343delinsTT 19 40719928 CM C G Missense p.P887A c.2659C>G 19 40720993 BRCA C G Missense p.Q487E c.1459C>G 19 40715033 CM C G Missense p.S563C c.1688C>G 19 40718847 BRCA C G Synonymous p.G54G c.162C>G 19 40698100 BRCA C T Missense p.P155L c.464C>T 19 40698402 CM C T Missense p.P646S c.1936C>T 19 40719522 CM C T Missense p.R422W c.1264C>T 19 40711893 UCEC C T Missense p.R436W c.1306C>T 19 40711935 BRCA C T Missense p.R517C c.1549C>T 19 40715123 CM C T Missense p.S588L c.1763C>T 19 40719021 CM C T Missense p.S634F c.1901C>T 19 40719487 CM C T Synonymous p.F249F c.747C>T 19 40704346 BRCA C T Synonymous p.G110G c.330C>T 19 40698268 UCEC C T Synonymous p.G79G c.237C>T 19 40698175 ESCA C T Synonymous p.I306I c.918C>T 19 40710446 LUAD C T Synonymous p.I602I c.1806C>T 19 40719064 CM C T Synonymous p.L239L c.717C>T 19 40704316 HNSC C T Synonymous p.L335L c.1005C>T 19 40710533 CM C T Synonymous p.P861P c.2583C>T 19 40720917 CM C T Synonymous p.S903S c.2709C>T 19 40721043 CM G A Missense p.A200T c.598G>A 19 40698536 HNSC G A Missense p.A233T c.697G>A 19 40704296 COREAD G A Missense p.E337K c.1009G>A 19 40710537 BLCA G A Missense p.G346R c.1036G>A 19 40711051 BRCA G A Missense p.R662Q c.1985G>A 19 40719571 STAD G A Missense p.R857H c.2570G>A 19 40720904 OV G A Missense p.S262N c.785G>A 19 40704384 STAD G A Missense p.V315M c.943G>A 19 40710471 HNSC G A Missense p.V315M c.943G>A 19 40710471 STAD G A Nonsense p.W652* c.1955G>A 19 40719541 CM G A SpliceDonorSNV . c.1552+1G>A 19 40715127 PRAD G A Synonymous p.L370L c.1110G>A 19 40711125 COREAD G A Synonymous p.Q153Q c.459G>A 19 40698397 UCEC G A Synonymous p.S375S c.1125G>A 19 40711140 MB G C IntronicSNV . c.864-65G>C 19 40710327 NSCLC G C Missense p.R356P c.1067G>C 19 40711082 CM G C Missense p.R463P c.1388G>C 19 40712017 LUAD G T Missense p.A884S c.2650G>T 19 40720984 LUAD G T Missense p.G107V c.320G>T 19 40698258 RCCC G T Missense p.R877L c.2630G>T 19 40720964 RCCC G T Synonymous p.L229L c.687G>T 19 40704286 LUAD T A Missense p.F280Y c.839T>A 19 40704438 BRCA T C Missense p.F904L c.2710T>C 19 40721044 CM