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 47236402 47236402 + Missense_Mutation SNP C C T TCGA-OR-A5LJ-01A-11D-A29I-10 TCGA-OR-A5LJ-10A-01D-A29L-10 g.chr19:47236402C>T c.631G>A c.(631-633)Ggg>Agg p.G211R BLCA 19 47224014 47224014 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr19:47224014G>C c.2107C>G c.(2107-2109)Ctg>Gtg p.L703V BLCA 19 47226204 47226204 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 g.chr19:47226204T>C c.1769A>G c.(1768-1770)cAc>cGc p.H590R BLCA 19 47236332 47236332 + Missense_Mutation SNP G G C TCGA-FD-A6TG-01A-11D-A32B-08 TCGA-FD-A6TG-10A-01D-A329-08 g.chr19:47236332G>C c.701C>G c.(700-702)tCg>tGg p.S234W BLCA 19 47236403 47236403 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 g.chr19:47236403G>A c.630C>T c.(628-630)aaC>aaT p.N210N BLCA 19 47241474 47241478 + Frame_Shift_Del DEL TTCAG TTCAG - TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 g.chr19:47241474_47241478delTTCAG c.403_407delCTGAA c.(403-408)ctgaagfs p.LK135fs BLCA 19 47242064 47242064 + Missense_Mutation SNP C C G TCGA-UY-A78M-01A-21D-A34U-08 TCGA-UY-A78M-10A-01D-A34X-08 g.chr19:47242064C>G c.364G>C c.(364-366)Gag>Cag p.E122Q BRCA 19 47240084 47240084 + Nonsense_Mutation SNP G G A TCGA-A7-A0CE-01A-11W-A019-09 TCGA-A7-A0CE-10A-01W-A021-09 g.chr19:47240084G>A c.535C>T c.(535-537)Cga>Tga p.R179* BRCA 19 47242077 47242077 + Silent SNP C C T TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 g.chr19:47242077C>T c.351G>A c.(349-351)cgG>cgA p.R117R CESC 19 47225314 47225314 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 g.chr19:47225314G>C c.2021C>G c.(2020-2022)tCc>tGc p.S674C COAD 19 47223960 47223960 + Missense_Mutation SNP G G A TCGA-A6-3807-01A-01W-0995-10 TCGA-A6-3807-11A-01W-0995-10 g.chr19:47223960G>A c.2161C>T c.(2161-2163)Cgc>Tgc p.R721C COAD 19 47225519 47225519 + Missense_Mutation SNP C C T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr19:47225519C>T c.1985G>A c.(1984-1986)cGc>cAc p.R662H COAD 19 47226109 47226109 + Missense_Mutation SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr19:47226109C>T c.1864G>A c.(1864-1866)Gtt>Att p.V622I COAD 19 47234095 47234095 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr19:47234095C>T c.773G>A c.(772-774)gGc>gAc p.G258D COAD 19 47242093 47242093 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr19:47242093G>A c.335C>T c.(334-336)aCg>aTg p.T112M COADREAD 19 47223960 47223960 + Missense_Mutation SNP G G A TCGA-A6-3807-01A-01W-0995-10 TCGA-A6-3807-11A-01W-0995-10 g.chr19:47223960G>A c.2161C>T c.(2161-2163)Cgc>Tgc p.R721C COADREAD 19 47225519 47225519 + Missense_Mutation SNP C C T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr19:47225519C>T c.1985G>A c.(1984-1986)cGc>cAc p.R662H COADREAD 19 47226109 47226109 + Missense_Mutation SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr19:47226109C>T c.1864G>A c.(1864-1866)Gtt>Att p.V622I COADREAD 19 47234095 47234095 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr19:47234095C>T c.773G>A c.(772-774)gGc>gAc p.G258D COADREAD 19 47241448 47241448 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr19:47241448C>A c.433G>T c.(433-435)Gag>Tag p.E145* COADREAD 19 47242093 47242093 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr19:47242093G>A c.335C>T c.(334-336)aCg>aTg p.T112M ESCA 19 47228734 47228734 + Missense_Mutation SNP T T C TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 g.chr19:47228734T>C c.1420A>G c.(1420-1422)Aag>Gag p.K474E ESCA 19 47231922 47231922 + Missense_Mutation SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 g.chr19:47231922G>A c.992C>T c.(991-993)gCt>gTt p.A331V GBMLGG 19 47228077 47228077 + Silent SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:47228077G>T c.1581C>A c.(1579-1581)ccC>ccA p.P527P GBMLGG 19 47228631 47228631 + Missense_Mutation SNP G G A TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 g.chr19:47228631G>A c.1430C>T c.(1429-1431)gCg>gTg p.A477V GBMLGG 19 47228890 47228890 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:47228890C>A c.1264G>T c.(1264-1266)Gat>Tat p.D422Y HNSC 19 47225314 47225314 + Missense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 g.chr19:47225314G>C c.2021C>G c.(2020-2022)tCc>tGc p.S674C HNSC 19 47226075 47226075 + Missense_Mutation SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 g.chr19:47226075C>T c.1898G>A c.(1897-1899)gGc>gAc p.G633D HNSC 19 47226133 47226133 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr19:47226133C>T c.1840G>A c.(1840-1842)Gac>Aac p.D614N HNSC 19 47228847 47228847 + Missense_Mutation SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 g.chr19:47228847G>A c.1307C>T c.(1306-1308)tCg>tTg p.S436L HNSC 19 47231181 47231181 + Missense_Mutation SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr19:47231181G>A c.1123C>T c.(1123-1125)Cct>Tct p.P375S HNSC 19 47231911 47231911 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 g.chr19:47231911G>A c.1003C>T c.(1003-1005)Cgg>Tgg p.R335W HNSC 19 47231984 47231984 + Silent SNP G G A TCGA-F7-A623-01A-11D-A28R-08 TCGA-F7-A623-10A-01D-A28U-08 g.chr19:47231984G>A c.930C>T c.(928-930)gaC>gaT p.D310D KIPAN 19 47226540 47226540 + Splice_Site SNP G G A TCGA-2Z-A9J1-01A-11D-A382-10 TCGA-2Z-A9J1-10A-01D-A385-10 g.chr19:47226540G>A c.1596C>T c.(1594-1596)gaC>gaT p.D532D KIPAN 19 47228597 47228597 + Silent SNP C C G TCGA-B0-5709-01A-11D-1534-10 TCGA-B0-5709-11A-01D-1534-10 g.chr19:47228597C>G c.1464G>C c.(1462-1464)cgG>cgC p.R488R KIPAN 19 47234130 47234130 + Splice_Site SNP C C T TCGA-BP-4177-01A-02D-1421-08 TCGA-BP-4177-11A-01D-1421-08 g.chr19:47234130C>T c.738G>A c.(736-738)agG>agA p.R246R KIRC 19 47228597 47228597 + Silent SNP C C G TCGA-B0-5709-01A-11D-1534-10 TCGA-B0-5709-11A-01D-1534-10 g.chr19:47228597C>G c.1464G>C c.(1462-1464)cgG>cgC p.R488R KIRC 19 47234130 47234130 + Splice_Site SNP C C T TCGA-BP-4177-01A-02D-1421-08 TCGA-BP-4177-11A-01D-1421-08 g.chr19:47234130C>T c.738G>A c.(736-738)agG>agA p.R246R KIRP 19 47226540 47226540 + Splice_Site SNP G G A TCGA-2Z-A9J1-01A-11D-A382-10 TCGA-2Z-A9J1-10A-01D-A385-10 g.chr19:47226540G>A c.1596C>T c.(1594-1596)gaC>gaT p.D532D LGG 19 47228077 47228077 + Silent SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:47228077G>T c.1581C>A c.(1579-1581)ccC>ccA p.P527P LGG 19 47228631 47228631 + Missense_Mutation SNP G G A TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 g.chr19:47228631G>A c.1430C>T c.(1429-1431)gCg>gTg p.A477V LGG 19 47228890 47228890 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:47228890C>A c.1264G>T c.(1264-1266)Gat>Tat p.D422Y LIHC 19 47231256 47231256 + Missense_Mutation SNP G G C TCGA-GJ-A6C0-01A-12D-A30V-10 TCGA-GJ-A6C0-10A-01D-A30V-10 g.chr19:47231256G>C c.1048C>G c.(1048-1050)Cgg>Ggg p.R350G LUAD 19 47223906 47223906 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 g.chr19:47223906G>T c.2215C>A c.(2215-2217)Ctc>Atc p.L739I LUAD 19 47228789 47228789 + Silent SNP G G A TCGA-J2-8194-01A-11D-2238-08 TCGA-J2-8194-10A-01D-2238-08 g.chr19:47228789G>A c.1365C>T c.(1363-1365)acC>acT p.T455T LUAD 19 47230793 47230793 + Silent SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 g.chr19:47230793G>A c.1164C>T c.(1162-1164)atC>atT p.I388I LUAD 19 47231253 47231253 + Frame_Shift_Del DEL C C - TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 g.chr19:47231253delC c.1051delG c.(1051-1053)gtcfs p.V351fs LUAD 19 47231989 47231989 + Missense_Mutation SNP C C T TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr19:47231989C>T c.925G>A c.(925-927)Gaa>Aaa p.E309K LUAD 19 47240082 47240082 + Silent SNP T T C TCGA-91-8499-01A-11D-2393-08 TCGA-91-8499-10A-01D-2393-08 g.chr19:47240082T>C c.537A>G c.(535-537)cgA>cgG p.R179R LUSC 19 47230799 47230799 + Silent SNP G G C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 g.chr19:47230799G>C c.1158C>G c.(1156-1158)gtC>gtG p.V386V PAAD 19 47223960 47223960 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:47223960G>A c.2161C>T c.(2161-2163)Cgc>Tgc p.R721C PAAD 19 47228829 47228829 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:47228829C>T c.1325G>A c.(1324-1326)cGt>cAt p.R442H PAAD 19 47228837 47228837 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:47228837G>A c.1317C>T c.(1315-1317)gaC>gaT p.D439D PAAD 19 47228870 47228870 + Nonsense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:47228870C>T c.1284G>A c.(1282-1284)tgG>tgA p.W428* PAAD 19 47232005 47232005 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:47232005C>T c.909G>A c.(907-909)atG>atA p.M303I PAAD 19 47232016 47232016 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:47232016C>T c.898G>A c.(898-900)Gtg>Atg p.V300M PCPG 19 47228840 47228840 + Silent SNP G G A TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 g.chr19:47228840G>A c.1314C>T c.(1312-1314)taC>taT p.Y438Y PRAD 19 47228829 47228829 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr19:47228829C>T c.1325G>A c.(1324-1326)cGt>cAt p.R442H PRAD 19 47231891 47231891 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr19:47231891C>T c.1023G>A c.(1021-1023)ggG>ggA p.G341G PRAD 19 47236332 47236332 + Nonsense_Mutation SNP G G T TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 g.chr19:47236332G>T c.701C>A c.(700-702)tCg>tAg p.S234* READ 19 47241448 47241448 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr19:47241448C>A c.433G>T c.(433-435)Gag>Tag p.E145* SARC 19 47231154 47231154 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr19:47231154C>T c.1150G>A c.(1150-1152)Gaa>Aaa p.E384K SKCM 19 47225277 47225277 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:47225277G>A c.2058C>T c.(2056-2058)gcC>gcT p.A686A SKCM 19 47226197 47226197 + Silent SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr19:47226197G>A c.1776C>T c.(1774-1776)gtC>gtT p.V592V SKCM 19 47226405 47226407 + In_Frame_Del DEL GCT GCT - TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr19:47226405_47226407delGCT c.1729_1731delAGC c.(1729-1731)agcdel p.S577del SKCM 19 47228830 47228830 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:47228830G>A c.1324C>T c.(1324-1326)Cgt>Tgt p.R442C SKCM 19 47228866 47228866 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:47228866G>A c.1288C>T c.(1288-1290)Ccc>Tcc p.P430S SKCM 19 47231919 47231919 + Missense_Mutation SNP G G T TCGA-D9-A6E9-06A-12D-A30X-08 TCGA-D9-A6E9-10A-01D-A30X-08 g.chr19:47231919G>T c.995C>A c.(994-996)cCa>cAa p.P332Q SKCM 19 47232010 47232010 + Missense_Mutation SNP C C T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr19:47232010C>T c.904G>A c.(904-906)Gaa>Aaa p.E302K SKCM 19 47234012 47234013 + Frame_Shift_Ins INS - - CA TCGA-GN-A262-06A-11D-A196-08 TCGA-GN-A262-10A-01D-A198-08 g.chr19:47234012_47234013insCA c.855_856insTG c.(853-858)gtgcagfs p.Q286fs SKCM 19 47241454 47241454 + Nonsense_Mutation SNP G G A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 g.chr19:47241454G>A c.427C>T c.(427-429)Cag>Tag p.Q143* SKCM 19 47241455 47241455 + Silent SNP G G A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 g.chr19:47241455G>A c.426C>T c.(424-426)aaC>aaT p.N142N

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 19 47219391 47219391 single base substitution C T downstream_gene_variant BLCA-US 19 47224014 47224014 single base substitution G C downstream_gene_variant BLCA-US 19 47224014 47224014 single base substitution G C exon_variant BLCA-US 19 47224014 47224014 single base substitution G C missense_variant L147V 439C>G BLCA-US 19 47224014 47224014 single base substitution G C missense_variant L584V 1750C>G BLCA-US 19 47224014 47224014 single base substitution G C missense_variant L703V 2107C>G BLCA-US 19 47224014 47224014 single base substitution G C missense_variant L710V 2128C>G BLCA-US 19 47226204 47226204 single base substitution T C downstream_gene_variant BLCA-US 19 47226204 47226204 single base substitution T C exon_variant BLCA-US 19 47226204 47226204 single base substitution T C missense_variant H270R 809A>G BLCA-US 19 47226204 47226204 single base substitution T C missense_variant H34R 101A>G BLCA-US 19 47226204 47226204 single base substitution T C missense_variant H471R 1412A>G BLCA-US 19 47226204 47226204 single base substitution T C missense_variant H590R 1769A>G BLCA-US 19 47226204 47226204 single base substitution T C missense_variant H597R 1790A>G BLCA-US 19 47226204 47226204 single base substitution T C upstream_gene_variant BLCA-US 19 47236403 47236403 single base substitution G A 3_prime_UTR_variant BLCA-US 19 47236403 47236403 single base substitution G A downstream_gene_variant BLCA-US 19 47236403 47236403 single base substitution G A exon_variant BLCA-US 19 47236403 47236403 single base substitution G A synonymous_variant N210N 630C>T BLCA-US 19 47236403 47236403 single base substitution G A synonymous_variant N91N 273C>T BLCA-US 19 47236403 47236403 single base substitution G A upstream_gene_variant BOCA-FR 19 47228836 47228836 single base substitution C T 3_prime_UTR_variant BOCA-FR 19 47228836 47228836 single base substitution C T downstream_gene_variant BOCA-FR 19 47228836 47228836 single base substitution C T exon_variant BOCA-FR 19 47228836 47228836 single base substitution C T missense_variant G120S 358G>A BOCA-FR 19 47228836 47228836 single base substitution C T missense_variant G321S 961G>A BOCA-FR 19 47228836 47228836 single base substitution C T missense_variant G440S 1318G>A BOCA-FR 19 47228836 47228836 single base substitution C T missense_variant G447S 1339G>A BOCA-FR 19 47228836 47228836 single base substitution C T upstream_gene_variant BOCA-FR 19 47231962 47231962 single base substitution C T downstream_gene_variant BOCA-FR 19 47231962 47231962 single base substitution C T exon_variant BOCA-FR 19 47231962 47231962 single base substitution C T missense_variant E199K 595G>A BOCA-FR 19 47231962 47231962 single base substitution C T missense_variant E318K 952G>A BOCA-FR 19 47231962 47231962 single base substitution C T upstream_gene_variant BOCA-FR 19 47232880 47232880 single base substitution G A downstream_gene_variant BOCA-FR 19 47232880 47232880 single base substitution G A intron_variant BOCA-FR 19 47232880 47232880 single base substitution G A upstream_gene_variant BOCA-FR 19 47244645 47244645 single base substitution T A intron_variant BOCA-FR 19 47244645 47244645 single base substitution T A upstream_gene_variant BRCA-EU 19 47219493 47219493 single base substitution G C downstream_gene_variant BRCA-EU 19 47219638 47219638 single base substitution C T downstream_gene_variant BRCA-EU 19 47219743 47219743 single base substitution G A downstream_gene_variant BRCA-EU 19 47221014 47221014 single base substitution G C downstream_gene_variant BRCA-EU 19 47221522 47221522 single base substitution A G downstream_gene_variant BRCA-EU 19 47222071 47222071 single base substitution G C downstream_gene_variant BRCA-EU 19 47222853 47222853 single base substitution G C 3_prime_UTR_variant BRCA-EU 19 47222853 47222853 single base substitution G C downstream_gene_variant BRCA-EU 19 47222853 47222853 single base substitution G C exon_variant BRCA-EU 19 47223116 47223116 single base substitution G C 3_prime_UTR_variant BRCA-EU 19 47223116 47223116 single base substitution G C downstream_gene_variant BRCA-EU 19 47223116 47223116 single base substitution G C exon_variant BRCA-EU 19 47225197 47225197 single base substitution C T downstream_gene_variant BRCA-EU 19 47225197 47225197 single base substitution C T intron_variant BRCA-EU 19 47225197 47225197 single base substitution C T upstream_gene_variant BRCA-EU 19 47227629 47227629 single base substitution T G downstream_gene_variant BRCA-EU 19 47227629 47227629 single base substitution T G intron_variant BRCA-EU 19 47227629 47227629 single base substitution T G upstream_gene_variant BRCA-EU 19 47228035 47228035 single base substitution G T downstream_gene_variant BRCA-EU 19 47228035 47228035 single base substitution G T intron_variant BRCA-EU 19 47228035 47228035 single base substitution G T upstream_gene_variant BRCA-EU 19 47231344 47231344 single base substitution A C downstream_gene_variant BRCA-EU 19 47231344 47231344 single base substitution A C exon_variant BRCA-EU 19 47231344 47231344 single base substitution A C intron_variant BRCA-EU 19 47231344 47231344 single base substitution A C upstream_gene_variant BRCA-EU 19 47231669 47231669 single base substitution C T downstream_gene_variant BRCA-EU 19 47231669 47231669 single base substitution C T intron_variant BRCA-EU 19 47231669 47231669 single base substitution C T upstream_gene_variant BRCA-EU 19 47231708 47231708 single base substitution G A downstream_gene_variant BRCA-EU 19 47231708 47231708 single base substitution G A intron_variant BRCA-EU 19 47231708 47231708 single base substitution G A upstream_gene_variant BRCA-EU 19 47232288 47232288 single base substitution C G downstream_gene_variant BRCA-EU 19 47232288 47232288 single base substitution C G intron_variant BRCA-EU 19 47232288 47232288 single base substitution C G upstream_gene_variant BRCA-EU 19 47232706 47232706 single base substitution C T downstream_gene_variant BRCA-EU 19 47232706 47232706 single base substitution C T intron_variant BRCA-EU 19 47232706 47232706 single base substitution C T upstream_gene_variant BRCA-EU 19 47236486 47236486 single base substitution C G 3_prime_UTR_variant BRCA-EU 19 47236486 47236486 single base substitution C G downstream_gene_variant BRCA-EU 19 47236486 47236486 single base substitution C G exon_variant BRCA-EU 19 47236486 47236486 single base substitution C G missense_variant E183Q 547G>C BRCA-EU 19 47236486 47236486 single base substitution C G missense_variant E64Q 190G>C BRCA-EU 19 47236486 47236486 single base substitution C G upstream_gene_variant BRCA-EU 19 47237857 47237857 single base substitution G T downstream_gene_variant BRCA-EU 19 47237857 47237857 single base substitution G T intron_variant BRCA-EU 19 47237857 47237857 single base substitution G T upstream_gene_variant BRCA-EU 19 47238814 47238814 single base substitution T A downstream_gene_variant BRCA-EU 19 47238814 47238814 single base substitution T A intron_variant BRCA-EU 19 47238814 47238814 single base substitution T A upstream_gene_variant BRCA-EU 19 47240571 47240571 single base substitution G C intron_variant BRCA-EU 19 47240571 47240571 single base substitution G C upstream_gene_variant BRCA-EU 19 47242116 47242116 single base substitution C A 5_prime_UTR_variant BRCA-EU 19 47242116 47242116 single base substitution C A exon_variant BRCA-EU 19 47242116 47242116 single base substitution C A missense_variant R104S 312G>T BRCA-EU 19 47242116 47242116 single base substitution C A upstream_gene_variant BRCA-EU 19 47243487 47243487 single base substitution A G 5_prime_UTR_variant BRCA-EU 19 47243487 47243487 single base substitution A G intron_variant BRCA-EU 19 47243487 47243487 single base substitution A G upstream_gene_variant BRCA-EU 19 47244475 47244475 single base substitution T G intron_variant BRCA-EU 19 47244475 47244475 single base substitution T G upstream_gene_variant BRCA-EU 19 47244901 47244901 single base substitution G C intron_variant BRCA-EU 19 47244901 47244901 single base substitution G C upstream_gene_variant BRCA-EU 19 47245088 47245088 single base substitution G A intron_variant BRCA-EU 19 47245088 47245088 single base substitution G A upstream_gene_variant BRCA-EU 19 47246096 47246096 single base substitution G A intron_variant BRCA-EU 19 47246096 47246096 single base substitution G A upstream_gene_variant BRCA-EU 19 47246839 47246839 single base substitution G C intron_variant BRCA-EU 19 47246839 47246839 single base substitution G C upstream_gene_variant BRCA-EU 19 47247147 47247147 single base substitution G A intron_variant BRCA-EU 19 47247147 47247147 single base substitution G A upstream_gene_variant BRCA-EU 19 47248011 47248011 single base substitution C A intron_variant BRCA-EU 19 47250371 47250371 single base substitution G C upstream_gene_variant BRCA-EU 19 47253141 47253141 single base substitution A T upstream_gene_variant BRCA-FR 19 47221522 47221522 single base substitution A G downstream_gene_variant BRCA-FR 19 47224580 47224580 single base substitution C G downstream_gene_variant BRCA-FR 19 47224580 47224580 single base substitution C G exon_variant BRCA-FR 19 47224580 47224580 single base substitution C G intron_variant BRCA-FR 19 47225197 47225197 single base substitution C T downstream_gene_variant BRCA-FR 19 47225197 47225197 single base substitution C T intron_variant BRCA-FR 19 47225197 47225197 single base substitution C T upstream_gene_variant BRCA-FR 19 47242116 47242116 single base substitution C A 5_prime_UTR_variant BRCA-FR 19 47242116 47242116 single base substitution C A exon_variant BRCA-FR 19 47242116 47242116 single base substitution C A missense_variant R104S 312G>T BRCA-FR 19 47242116 47242116 single base substitution C A upstream_gene_variant BRCA-UK 19 47234089 47234089 single base substitution G T 3_prime_UTR_variant BRCA-UK 19 47234089 47234089 single base substitution G T downstream_gene_variant BRCA-UK 19 47234089 47234089 single base substitution G T exon_variant BRCA-UK 19 47234089 47234089 single base substitution G T stop_gained S141* 422C>A BRCA-UK 19 47234089 47234089 single base substitution G T stop_gained S260* 779C>A BRCA-UK 19 47234089 47234089 single base substitution G T upstream_gene_variant BRCA-UK 19 47245088 47245088 single base substitution G A intron_variant BRCA-UK 19 47245088 47245088 single base substitution G A upstream_gene_variant BRCA-US 19 47231375 47231375 single base substitution G A downstream_gene_variant BRCA-US 19 47231375 47231375 single base substitution G A exon_variant BRCA-US 19 47231375 47231375 single base substitution G A intron_variant BRCA-US 19 47231375 47231375 single base substitution G A upstream_gene_variant BRCA-US 19 47240084 47240084 single base substitution G A exon_variant BRCA-US 19 47240084 47240084 single base substitution G A stop_gained R179* 535C>T BRCA-US 19 47240084 47240084 single base substitution G A stop_gained R60* 178C>T BRCA-US 19 47240084 47240084 single base substitution G A upstream_gene_variant BRCA-US 19 47242077 47242077 single base substitution C T 5_prime_UTR_variant BRCA-US 19 47242077 47242077 single base substitution C T exon_variant BRCA-US 19 47242077 47242077 single base substitution C T synonymous_variant R117R 351G>A BRCA-US 19 47242077 47242077 single base substitution C T upstream_gene_variant BTCA-JP 19 47219594 47219594 single base substitution G T downstream_gene_variant BTCA-JP 19 47225265 47225265 single base substitution G A downstream_gene_variant BTCA-JP 19 47225265 47225265 single base substitution G A exon_variant BTCA-JP 19 47225265 47225265 single base substitution G A synonymous_variant N134N 402C>T BTCA-JP 19 47225265 47225265 single base substitution G A synonymous_variant N571N 1713C>T BTCA-JP 19 47225265 47225265 single base substitution G A synonymous_variant N690N 2070C>T BTCA-JP 19 47225265 47225265 single base substitution G A synonymous_variant N697N 2091C>T BTCA-JP 19 47225265 47225265 single base substitution G A upstream_gene_variant BTCA-JP 19 47226008 47226008 single base substitution G T downstream_gene_variant BTCA-JP 19 47226008 47226008 single base substitution G T intron_variant BTCA-JP 19 47226008 47226008 single base substitution G T upstream_gene_variant BTCA-JP 19 47228845 47228845 single base substitution G T 3_prime_UTR_variant BTCA-JP 19 47228845 47228845 single base substitution G T downstream_gene_variant BTCA-JP 19 47228845 47228845 single base substitution G T exon_variant BTCA-JP 19 47228845 47228845 single base substitution G T missense_variant H117N 349C>A BTCA-JP 19 47228845 47228845 single base substitution G T missense_variant H318N 952C>A BTCA-JP 19 47228845 47228845 single base substitution G T missense_variant H437N 1309C>A BTCA-JP 19 47228845 47228845 single base substitution G T missense_variant H444N 1330C>A BTCA-JP 19 47228845 47228845 single base substitution G T upstream_gene_variant BTCA-JP 19 47231135 47231135 deletion of <=200bp G - downstream_gene_variant BTCA-JP 19 47231135 47231135 deletion of <=200bp G - intron_variant BTCA-JP 19 47231135 47231135 deletion of <=200bp G - upstream_gene_variant BTCA-JP 19 47232126 47232126 single base substitution G T downstream_gene_variant BTCA-JP 19 47232126 47232126 single base substitution G T intron_variant BTCA-JP 19 47232126 47232126 single base substitution G T upstream_gene_variant BTCA-JP 19 47241380 47241380 single base substitution G A intron_variant BTCA-JP 19 47241380 47241380 single base substitution G A upstream_gene_variant CESC-US 19 47225314 47225314 single base substitution G C downstream_gene_variant CESC-US 19 47225314 47225314 single base substitution G C exon_variant CESC-US 19 47225314 47225314 single base substitution G C missense_variant S118C 353C>G CESC-US 19 47225314 47225314 single base substitution G C missense_variant S555C 1664C>G CESC-US 19 47225314 47225314 single base substitution G C missense_variant S674C 2021C>G CESC-US 19 47225314 47225314 single base substitution G C missense_variant S681C 2042C>G CESC-US 19 47225314 47225314 single base substitution G C upstream_gene_variant CLLE-ES 19 47224072 47224072 single base substitution C T downstream_gene_variant CLLE-ES 19 47224072 47224072 single base substitution C T exon_variant CLLE-ES 19 47224072 47224072 single base substitution C T intron_variant CLLE-ES 19 47228486 47228486 single base substitution T G downstream_gene_variant CLLE-ES 19 47228486 47228486 single base substitution T G intron_variant CLLE-ES 19 47228486 47228486 single base substitution T G upstream_gene_variant CLLE-ES 19 47245052 47245052 single base substitution G A intron_variant CLLE-ES 19 47245052 47245052 single base substitution G A upstream_gene_variant COAD-US 19 47226109 47226109 single base substitution C T downstream_gene_variant COAD-US 19 47226109 47226109 single base substitution C T exon_variant COAD-US 19 47226109 47226109 single base substitution C T missense_variant V302I 904G>A COAD-US 19 47226109 47226109 single base substitution C T missense_variant V503I 1507G>A COAD-US 19 47226109 47226109 single base substitution C T missense_variant V622I 1864G>A COAD-US 19 47226109 47226109 single base substitution C T missense_variant V629I 1885G>A COAD-US 19 47226109 47226109 single base substitution C T missense_variant V66I 196G>A COAD-US 19 47226109 47226109 single base substitution C T upstream_gene_variant COAD-US 19 47236435 47236435 single base substitution G A 3_prime_UTR_variant COAD-US 19 47236435 47236435 single base substitution G A downstream_gene_variant COAD-US 19 47236435 47236435 single base substitution G A exon_variant COAD-US 19 47236435 47236435 single base substitution G A missense_variant R200C 598C>T COAD-US 19 47236435 47236435 single base substitution G A missense_variant R81C 241C>T COAD-US 19 47236435 47236435 single base substitution G A upstream_gene_variant COAD-US 19 47242093 47242093 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COAD-US 19 47242093 47242093 single base substitution G A exon_variant COAD-US 19 47242093 47242093 single base substitution G A missense_variant T112M 335C>T COAD-US 19 47242093 47242093 single base substitution G A upstream_gene_variant COCA-CN 19 47231376 47231376 single base substitution C T downstream_gene_variant COCA-CN 19 47231376 47231376 single base substitution C T exon_variant COCA-CN 19 47231376 47231376 single base substitution C T intron_variant COCA-CN 19 47231376 47231376 single base substitution C T upstream_gene_variant COCA-CN 19 47231903 47231903 single base substitution G A downstream_gene_variant COCA-CN 19 47231903 47231903 single base substitution G A exon_variant COCA-CN 19 47231903 47231903 single base substitution G A synonymous_variant C218C 654C>T COCA-CN 19 47231903 47231903 single base substitution G A synonymous_variant C337C 1011C>T COCA-CN 19 47231903 47231903 single base substitution G A upstream_gene_variant COCA-CN 19 47234049 47234049 single base substitution G A 3_prime_UTR_variant COCA-CN 19 47234049 47234049 single base substitution G A downstream_gene_variant COCA-CN 19 47234049 47234049 single base substitution G A exon_variant COCA-CN 19 47234049 47234049 single base substitution G A synonymous_variant D154D 462C>T COCA-CN 19 47234049 47234049 single base substitution G A synonymous_variant D273D 819C>T COCA-CN 19 47234049 47234049 single base substitution G A upstream_gene_variant COCA-CN 19 47236302 47236302 single base substitution A G 3_prime_UTR_variant COCA-CN 19 47236302 47236302 single base substitution A G downstream_gene_variant COCA-CN 19 47236302 47236302 single base substitution A G exon_variant COCA-CN 19 47236302 47236302 single base substitution A G missense_variant I125T 374T>C COCA-CN 19 47236302 47236302 single base substitution A G missense_variant I244T 731T>C COCA-CN 19 47236302 47236302 single base substitution A G upstream_gene_variant COCA-CN 19 47242056 47242056 single base substitution C T exon_variant COCA-CN 19 47242056 47242056 single base substitution C T synonymous_variant A124A 372G>A COCA-CN 19 47242056 47242056 single base substitution C T synonymous_variant A5A 15G>A COCA-CN 19 47242056 47242056 single base substitution C T upstream_gene_variant COCA-CN 19 47249296 47249296 single base substitution G C intron_variant COCA-CN 19 47249296 47249296 single base substitution G C upstream_gene_variant COCA-CN 19 47249340 47249340 single base substitution G A intron_variant COCA-CN 19 47249340 47249340 single base substitution G A upstream_gene_variant ESAD-UK 19 47219475 47219475 single base substitution G C downstream_gene_variant ESAD-UK 19 47221992 47221992 single base substitution G A downstream_gene_variant ESAD-UK 19 47222450 47222450 single base substitution C T downstream_gene_variant ESAD-UK 19 47222536 47222536 single base substitution G A downstream_gene_variant ESAD-UK 19 47223179 47223179 single base substitution G A 3_prime_UTR_variant ESAD-UK 19 47223179 47223179 single base substitution G A downstream_gene_variant ESAD-UK 19 47223179 47223179 single base substitution G A exon_variant ESAD-UK 19 47224892 47224892 single base substitution G A downstream_gene_variant ESAD-UK 19 47224892 47224892 single base substitution G A exon_variant ESAD-UK 19 47224892 47224892 single base substitution G A intron_variant ESAD-UK 19 47226158 47226158 single base substitution G A downstream_gene_variant ESAD-UK 19 47226158 47226158 single base substitution G A exon_variant ESAD-UK 19 47226158 47226158 single base substitution G A synonymous_variant H285H 855C>T ESAD-UK 19 47226158 47226158 single base substitution G A synonymous_variant H486H 1458C>T ESAD-UK 19 47226158 47226158 single base substitution G A synonymous_variant H49H 147C>T ESAD-UK 19 47226158 47226158 single base substitution G A synonymous_variant H605H 1815C>T ESAD-UK 19 47226158 47226158 single base substitution G A synonymous_variant H612H 1836C>T ESAD-UK 19 47226158 47226158 single base substitution G A upstream_gene_variant ESAD-UK 19 47230542 47230542 single base substitution G A downstream_gene_variant ESAD-UK 19 47230542 47230542 single base substitution G A intron_variant ESAD-UK 19 47230542 47230542 single base substitution G A upstream_gene_variant ESAD-UK 19 47233917 47233917 single base substitution A C downstream_gene_variant ESAD-UK 19 47233917 47233917 single base substitution A C intron_variant ESAD-UK 19 47233917 47233917 single base substitution A C upstream_gene_variant ESAD-UK 19 47240711 47240711 single base substitution T C intron_variant ESAD-UK 19 47240711 47240711 single base substitution T C upstream_gene_variant ESAD-UK 19 47242795 47242795 single base substitution G A intron_variant ESAD-UK 19 47242795 47242795 single base substitution G A upstream_gene_variant ESAD-UK 19 47243978 47243978 single base substitution G A intron_variant ESAD-UK 19 47243978 47243978 single base substitution G A upstream_gene_variant ESAD-UK 19 47248924 47248924 single base substitution G A intron_variant ESAD-UK 19 47255203 47255203 single base substitution C T upstream_gene_variant KIRC-US 19 47228597 47228597 single base substitution C G 3_prime_UTR_variant KIRC-US 19 47228597 47228597 single base substitution C G downstream_gene_variant KIRC-US 19 47228597 47228597 single base substitution C G exon_variant KIRC-US 19 47228597 47228597 single base substitution C G synonymous_variant R168R 504G>C KIRC-US 19 47228597 47228597 single base substitution C G synonymous_variant R369R 1107G>C KIRC-US 19 47228597 47228597 single base substitution C G synonymous_variant R488R 1464G>C KIRC-US 19 47228597 47228597 single base substitution C G synonymous_variant R495R 1485G>C KIRC-US 19 47228597 47228597 single base substitution C G upstream_gene_variant LAML-KR 19 47225432 47225432 single base substitution G A downstream_gene_variant LAML-KR 19 47225432 47225432 single base substitution G A exon_variant LAML-KR 19 47225432 47225432 single base substitution G A intron_variant LAML-KR 19 47225432 47225432 single base substitution G A upstream_gene_variant LICA-CN 19 47226186 47226186 single base substitution A G downstream_gene_variant LICA-CN 19 47226186 47226186 single base substitution A G exon_variant LICA-CN 19 47226186 47226186 single base substitution A G missense_variant V276A 827T>C LICA-CN 19 47226186 47226186 single base substitution A G missense_variant V40A 119T>C LICA-CN 19 47226186 47226186 single base substitution A G missense_variant V477A 1430T>C LICA-CN 19 47226186 47226186 single base substitution A G missense_variant V596A 1787T>C LICA-CN 19 47226186 47226186 single base substitution A G missense_variant V603A 1808T>C LICA-CN 19 47226186 47226186 single base substitution A G upstream_gene_variant LICA-CN 19 47226389 47226389 single base substitution T A downstream_gene_variant LICA-CN 19 47226389 47226389 single base substitution T A exon_variant LICA-CN 19 47226389 47226389 single base substitution T A missense_variant T263S 787A>T LICA-CN 19 47226389 47226389 single base substitution T A missense_variant T27S 79A>T LICA-CN 19 47226389 47226389 single base substitution T A missense_variant T464S 1390A>T LICA-CN 19 47226389 47226389 single base substitution T A missense_variant T583S 1747A>T LICA-CN 19 47226389 47226389 single base substitution T A missense_variant T590S 1768A>T LICA-CN 19 47226389 47226389 single base substitution T A upstream_gene_variant LICA-FR 19 47219546 47219546 single base substitution G A downstream_gene_variant LICA-FR 19 47236041 47236041 single base substitution G A downstream_gene_variant LICA-FR 19 47236041 47236041 single base substitution G A intron_variant LICA-FR 19 47236041 47236041 single base substitution G A upstream_gene_variant LICA-FR 19 47237738 47237738 single base substitution T C downstream_gene_variant LICA-FR 19 47237738 47237738 single base substitution T C intron_variant LICA-FR 19 47237738 47237738 single base substitution T C upstream_gene_variant LICA-FR 19 47240167 47240167 single base substitution T G intron_variant LICA-FR 19 47240167 47240167 single base substitution T G upstream_gene_variant LICA-FR 19 47241467 47241467 single base substitution C T exon_variant LICA-FR 19 47241467 47241467 single base substitution C T synonymous_variant G138G 414G>A LICA-FR 19 47241467 47241467 single base substitution C T synonymous_variant G19G 57G>A LICA-FR 19 47241467 47241467 single base substitution C T upstream_gene_variant LICA-FR 19 47249438 47249438 single base substitution C A 5_prime_UTR_variant LICA-FR 19 47249438 47249438 single base substitution C A exon_variant LICA-FR 19 47249438 47249438 single base substitution C A intron_variant LICA-FR 19 47249438 47249438 single base substitution C A missense_variant A84S 250G>T LICA-FR 19 47249438 47249438 single base substitution C A upstream_gene_variant LIHC-US 19 47225275 47225275 single base substitution A G downstream_gene_variant LIHC-US 19 47225275 47225275 single base substitution A G exon_variant LIHC-US 19 47225275 47225275 single base substitution A G missense_variant V131A 392T>C LIHC-US 19 47225275 47225275 single base substitution A G missense_variant V568A 1703T>C LIHC-US 19 47225275 47225275 single base substitution A G missense_variant V687A 2060T>C LIHC-US 19 47225275 47225275 single base substitution A G missense_variant V694A 2081T>C LIHC-US 19 47225275 47225275 single base substitution A G upstream_gene_variant LIHC-US 19 47231256 47231256 single base substitution G C 3_prime_UTR_variant LIHC-US 19 47231256 47231256 single base substitution G C downstream_gene_variant LIHC-US 19 47231256 47231256 single base substitution G C exon_variant LIHC-US 19 47231256 47231256 single base substitution G C missense_variant R231G 691C>G LIHC-US 19 47231256 47231256 single base substitution G C missense_variant R350G 1048C>G LIHC-US 19 47231256 47231256 single base substitution G C upstream_gene_variant LINC-JP 19 47219171 47219171 single base substitution T C downstream_gene_variant LINC-JP 19 47221038 47221038 single base substitution A T downstream_gene_variant LINC-JP 19 47223888 47223888 single base substitution C T downstream_gene_variant LINC-JP 19 47223888 47223888 single base substitution C T exon_variant LINC-JP 19 47223888 47223888 single base substitution C T missense_variant A189T 565G>A LINC-JP 19 47223888 47223888 single base substitution C T missense_variant A626T 1876G>A LINC-JP 19 47223888 47223888 single base substitution C T missense_variant A745T 2233G>A LINC-JP 19 47223888 47223888 single base substitution C T missense_variant A752T 2254G>A LINC-JP 19 47230735 47230735 single base substitution T A 3_prime_UTR_variant LINC-JP 19 47230735 47230735 single base substitution T A downstream_gene_variant LINC-JP 19 47230735 47230735 single base substitution T A exon_variant LINC-JP 19 47230735 47230735 single base substitution T A missense_variant H93L 278A>T LINC-JP 19 47230735 47230735 single base substitution T A missense_variant T289S 865A>T LINC-JP 19 47230735 47230735 single base substitution T A missense_variant T408S 1222A>T LINC-JP 19 47230735 47230735 single base substitution T A missense_variant T415S 1243A>T LINC-JP 19 47230735 47230735 single base substitution T A upstream_gene_variant LINC-JP 19 47232027 47232027 single base substitution G A downstream_gene_variant LINC-JP 19 47232027 47232027 single base substitution G A exon_variant LINC-JP 19 47232027 47232027 single base substitution G A missense_variant S177F 530C>T LINC-JP 19 47232027 47232027 single base substitution G A missense_variant S296F 887C>T LINC-JP 19 47232027 47232027 single base substitution G A upstream_gene_variant LINC-JP 19 47245682 47245682 single base substitution A G intron_variant LINC-JP 19 47245682 47245682 single base substitution A G upstream_gene_variant LINC-JP 19 47249296 47249296 single base substitution G C intron_variant LINC-JP 19 47249296 47249296 single base substitution G C upstream_gene_variant LINC-JP 19 47251498 47251498 single base substitution G A upstream_gene_variant LIRI-JP 19 47222238 47222238 single base substitution T C downstream_gene_variant LIRI-JP 19 47222987 47222987 single base substitution T C 3_prime_UTR_variant LIRI-JP 19 47222987 47222987 single base substitution T C downstream_gene_variant LIRI-JP 19 47222987 47222987 single base substitution T C exon_variant LIRI-JP 19 47227558 47227558 single base substitution G A downstream_gene_variant LIRI-JP 19 47227558 47227558 single base substitution G A intron_variant LIRI-JP 19 47227558 47227558 single base substitution G A upstream_gene_variant LIRI-JP 19 47232288 47232288 single base substitution C G downstream_gene_variant LIRI-JP 19 47232288 47232288 single base substitution C G intron_variant LIRI-JP 19 47232288 47232288 single base substitution C G upstream_gene_variant LIRI-JP 19 47233177 47233177 single base substitution A G downstream_gene_variant LIRI-JP 19 47233177 47233177 single base substitution A G intron_variant LIRI-JP 19 47233177 47233177 single base substitution A G upstream_gene_variant LIRI-JP 19 47233840 47233840 single base substitution C T downstream_gene_variant LIRI-JP 19 47233840 47233840 single base substitution C T intron_variant LIRI-JP 19 47233840 47233840 single base substitution C T upstream_gene_variant LIRI-JP 19 47237497 47237497 single base substitution T C downstream_gene_variant LIRI-JP 19 47237497 47237497 single base substitution T C intron_variant LIRI-JP 19 47237497 47237497 single base substitution T C upstream_gene_variant LIRI-JP 19 47238911 47238911 single base substitution T C downstream_gene_variant LIRI-JP 19 47238911 47238911 single base substitution T C intron_variant LIRI-JP 19 47238911 47238911 single base substitution T C upstream_gene_variant LIRI-JP 19 47245058 47245058 single base substitution T A intron_variant LIRI-JP 19 47245058 47245058 single base substitution T A upstream_gene_variant LIRI-JP 19 47245265 47245265 single base substitution A C intron_variant LIRI-JP 19 47245265 47245265 single base substitution A C upstream_gene_variant LIRI-JP 19 47247203 47247203 single base substitution C T intron_variant LIRI-JP 19 47247203 47247203 single base substitution C T upstream_gene_variant LIRI-JP 19 47247241 47247241 single base substitution C T intron_variant LIRI-JP 19 47247241 47247241 single base substitution C T upstream_gene_variant LIRI-JP 19 47247611 47247611 single base substitution A G intron_variant LIRI-JP 19 47247611 47247611 single base substitution A G upstream_gene_variant LIRI-JP 19 47250347 47250347 single base substitution C T upstream_gene_variant LIRI-JP 19 47250777 47250777 single base substitution A G upstream_gene_variant LIRI-JP 19 47253422 47253422 single base substitution C T upstream_gene_variant LIRI-JP 19 47254109 47254109 single base substitution A G upstream_gene_variant LIRI-JP 19 47254295 47254295 single base substitution G A upstream_gene_variant LIRI-JP 19 47254725 47254725 single base substitution T C upstream_gene_variant LUSC-KR 19 47219778 47219778 single base substitution G A downstream_gene_variant LUSC-KR 19 47219865 47219865 single base substitution G C downstream_gene_variant LUSC-KR 19 47220032 47220032 single base substitution G C downstream_gene_variant LUSC-KR 19 47220180 47220180 single base substitution G A downstream_gene_variant LUSC-KR 19 47220266 47220266 single base substitution G C downstream_gene_variant LUSC-KR 19 47220848 47220848 single base substitution C T downstream_gene_variant LUSC-KR 19 47221237 47221237 single base substitution G A downstream_gene_variant LUSC-KR 19 47221316 47221316 single base substitution G C downstream_gene_variant LUSC-KR 19 47221757 47221757 single base substitution G A downstream_gene_variant LUSC-KR 19 47222113 47222113 single base substitution G T downstream_gene_variant LUSC-KR 19 47222730 47222730 single base substitution G T downstream_gene_variant LUSC-KR 19 47223294 47223294 single base substitution C T 3_prime_UTR_variant LUSC-KR 19 47223294 47223294 single base substitution C T downstream_gene_variant LUSC-KR 19 47223294 47223294 single base substitution C T exon_variant LUSC-KR 19 47223581 47223581 single base substitution G A 3_prime_UTR_variant LUSC-KR 19 47223581 47223581 single base substitution G A downstream_gene_variant LUSC-KR 19 47223581 47223581 single base substitution G A exon_variant LUSC-KR 19 47231624 47231624 single base substitution C A downstream_gene_variant LUSC-KR 19 47231624 47231624 single base substitution C A exon_variant LUSC-KR 19 47231624 47231624 single base substitution C A intron_variant LUSC-KR 19 47231624 47231624 single base substitution C A upstream_gene_variant LUSC-KR 19 47232952 47232952 single base substitution T G downstream_gene_variant LUSC-KR 19 47232952 47232952 single base substitution T G intron_variant LUSC-KR 19 47232952 47232952 single base substitution T G upstream_gene_variant LUSC-KR 19 47233951 47233951 single base substitution C A downstream_gene_variant LUSC-KR 19 47233951 47233951 single base substitution C A intron_variant LUSC-KR 19 47233951 47233951 single base substitution C A upstream_gene_variant LUSC-KR 19 47234989 47234989 single base substitution C A downstream_gene_variant LUSC-KR 19 47234989 47234989 single base substitution C A exon_variant LUSC-KR 19 47234989 47234989 single base substitution C A intron_variant LUSC-KR 19 47234989 47234989 single base substitution C A upstream_gene_variant LUSC-KR 19 47239263 47239263 single base substitution G C downstream_gene_variant LUSC-KR 19 47239263 47239263 single base substitution G C intron_variant LUSC-KR 19 47239263 47239263 single base substitution G C upstream_gene_variant LUSC-KR 19 47240066 47240066 single base substitution C T intron_variant LUSC-KR 19 47240066 47240066 single base substitution C T upstream_gene_variant LUSC-KR 19 47241659 47241659 single base substitution C T intron_variant LUSC-KR 19 47241659 47241659 single base substitution C T upstream_gene_variant LUSC-KR 19 47242152 47242152 single base substitution G A splice_region_variant LUSC-KR 19 47242152 47242152 single base substitution G A upstream_gene_variant LUSC-KR 19 47242277 47242277 single base substitution C A intron_variant LUSC-KR 19 47242277 47242277 single base substitution C A upstream_gene_variant LUSC-KR 19 47243784 47243784 single base substitution G T intron_variant LUSC-KR 19 47243784 47243784 single base substitution G T upstream_gene_variant LUSC-KR 19 47253748 47253748 single base substitution G A upstream_gene_variant LUSC-US 19 47219577 47219577 single base substitution C A downstream_gene_variant LUSC-US 19 47230799 47230799 single base substitution G C 3_prime_UTR_variant LUSC-US 19 47230799 47230799 single base substitution G C downstream_gene_variant LUSC-US 19 47230799 47230799 single base substitution G C exon_variant LUSC-US 19 47230799 47230799 single base substitution G C missense_variant L72V 214C>G LUSC-US 19 47230799 47230799 single base substitution G C synonymous_variant V267V 801C>G LUSC-US 19 47230799 47230799 single base substitution G C synonymous_variant V386V 1158C>G LUSC-US 19 47230799 47230799 single base substitution G C synonymous_variant V393V 1179C>G LUSC-US 19 47230799 47230799 single base substitution G C upstream_gene_variant MALY-DE 19 47219756 47219756 single base substitution A G downstream_gene_variant MALY-DE 19 47230424 47230424 single base substitution T G downstream_gene_variant MALY-DE 19 47230424 47230424 single base substitution T G intron_variant MALY-DE 19 47230424 47230424 single base substitution T G upstream_gene_variant MALY-DE 19 47233132 47233132 single base substitution G T downstream_gene_variant MALY-DE 19 47233132 47233132 single base substitution G T intron_variant MALY-DE 19 47233132 47233132 single base substitution G T upstream_gene_variant MALY-DE 19 47234696 47234696 single base substitution T C downstream_gene_variant MALY-DE 19 47234696 47234696 single base substitution T C intron_variant MALY-DE 19 47234696 47234696 single base substitution T C upstream_gene_variant MELA-AU 19 47218870 47218870 single base substitution C T downstream_gene_variant MELA-AU 19 47218913 47218913 single base substitution G A downstream_gene_variant MELA-AU 19 47219640 47219640 single base substitution G A downstream_gene_variant MELA-AU 19 47219688 47219688 single base substitution G A downstream_gene_variant MELA-AU 19 47220254 47220255 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 47220404 47220404 single base substitution G A downstream_gene_variant MELA-AU 19 47220444 47220444 single base substitution G A downstream_gene_variant MELA-AU 19 47222278 47222278 single base substitution G A downstream_gene_variant MELA-AU 19 47222414 47222414 single base substitution G A downstream_gene_variant MELA-AU 19 47222537 47222537 single base substitution G A downstream_gene_variant MELA-AU 19 47223856 47223856 single base substitution G A 3_prime_UTR_variant MELA-AU 19 47223856 47223856 single base substitution G A downstream_gene_variant MELA-AU 19 47223856 47223856 single base substitution G A exon_variant MELA-AU 19 47223879 47223879 single base substitution G A downstream_gene_variant MELA-AU 19 47223879 47223879 single base substitution G A exon_variant MELA-AU 19 47223879 47223879 single base substitution G A synonymous_variant L192L 574C>T MELA-AU 19 47223879 47223879 single base substitution G A synonymous_variant L629L 1885C>T MELA-AU 19 47223879 47223879 single base substitution G A synonymous_variant L748L 2242C>T MELA-AU 19 47223879 47223879 single base substitution G A synonymous_variant L755L 2263C>T MELA-AU 19 47224044 47224045 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 47224044 47224045 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 19 47224044 47224045 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 47224398 47224398 single base substitution G A downstream_gene_variant MELA-AU 19 47224398 47224398 single base substitution G A exon_variant MELA-AU 19 47224398 47224398 single base substitution G A intron_variant MELA-AU 19 47224509 47224509 single base substitution G C downstream_gene_variant MELA-AU 19 47224509 47224509 single base substitution G C exon_variant MELA-AU 19 47224509 47224509 single base substitution G C intron_variant MELA-AU 19 47224790 47224790 single base substitution G A downstream_gene_variant MELA-AU 19 47224790 47224790 single base substitution G A exon_variant MELA-AU 19 47224790 47224790 single base substitution G A intron_variant MELA-AU 19 47225070 47225070 single base substitution G A downstream_gene_variant MELA-AU 19 47225070 47225070 single base substitution G A intron_variant MELA-AU 19 47225070 47225070 single base substitution G A upstream_gene_variant MELA-AU 19 47225347 47225347 single base substitution G A downstream_gene_variant MELA-AU 19 47225347 47225347 single base substitution G A exon_variant MELA-AU 19 47225347 47225347 single base substitution G A intron_variant MELA-AU 19 47225347 47225347 single base substitution G A upstream_gene_variant MELA-AU 19 47226171 47226171 single base substitution G A downstream_gene_variant MELA-AU 19 47226171 47226171 single base substitution G A exon_variant MELA-AU 19 47226171 47226171 single base substitution G A missense_variant T281I 842C>T MELA-AU 19 47226171 47226171 single base substitution G A missense_variant T45I 134C>T MELA-AU 19 47226171 47226171 single base substitution G A missense_variant T482I 1445C>T MELA-AU 19 47226171 47226171 single base substitution G A missense_variant T601I 1802C>T MELA-AU 19 47226171 47226171 single base substitution G A missense_variant T608I 1823C>T MELA-AU 19 47226171 47226171 single base substitution G A upstream_gene_variant MELA-AU 19 47226375 47226375 single base substitution G A downstream_gene_variant MELA-AU 19 47226375 47226375 single base substitution G A exon_variant MELA-AU 19 47226375 47226375 single base substitution G A synonymous_variant A267A 801C>T MELA-AU 19 47226375 47226375 single base substitution G A synonymous_variant A31A 93C>T MELA-AU 19 47226375 47226375 single base substitution G A synonymous_variant A468A 1404C>T MELA-AU 19 47226375 47226375 single base substitution G A synonymous_variant A587A 1761C>T MELA-AU 19 47226375 47226375 single base substitution G A synonymous_variant A594A 1782C>T MELA-AU 19 47226375 47226375 single base substitution G A upstream_gene_variant MELA-AU 19 47226418 47226418 single base substitution G A downstream_gene_variant MELA-AU 19 47226418 47226418 single base substitution G A exon_variant MELA-AU 19 47226418 47226418 single base substitution G A missense_variant P17L 50C>T MELA-AU 19 47226418 47226418 single base substitution G A missense_variant P253L 758C>T MELA-AU 19 47226418 47226418 single base substitution G A missense_variant P454L 1361C>T MELA-AU 19 47226418 47226418 single base substitution G A missense_variant P573L 1718C>T MELA-AU 19 47226418 47226418 single base substitution G A missense_variant P580L 1739C>T MELA-AU 19 47226418 47226418 single base substitution G A upstream_gene_variant MELA-AU 19 47226802 47226802 single base substitution G A downstream_gene_variant MELA-AU 19 47226802 47226802 single base substitution G A intron_variant MELA-AU 19 47226802 47226802 single base substitution G A upstream_gene_variant MELA-AU 19 47228189 47228189 single base substitution G A downstream_gene_variant MELA-AU 19 47228189 47228189 single base substitution G A intron_variant MELA-AU 19 47228189 47228189 single base substitution G A splice_region_variant MELA-AU 19 47228189 47228189 single base substitution G A upstream_gene_variant MELA-AU 19 47228194 47228194 single base substitution G A downstream_gene_variant MELA-AU 19 47228194 47228194 single base substitution G A intron_variant MELA-AU 19 47228194 47228194 single base substitution G A upstream_gene_variant MELA-AU 19 47228275 47228275 single base substitution A G downstream_gene_variant MELA-AU 19 47228275 47228275 single base substitution A G intron_variant MELA-AU 19 47228275 47228275 single base substitution A G upstream_gene_variant MELA-AU 19 47229124 47229124 single base substitution G A downstream_gene_variant MELA-AU 19 47229124 47229124 single base substitution G A exon_variant MELA-AU 19 47229124 47229124 single base substitution G A intron_variant MELA-AU 19 47229124 47229124 single base substitution G A upstream_gene_variant MELA-AU 19 47229559 47229559 single base substitution A T downstream_gene_variant MELA-AU 19 47229559 47229559 single base substitution A T intron_variant MELA-AU 19 47229559 47229559 single base substitution A T upstream_gene_variant MELA-AU 19 47229700 47229700 single base substitution G A downstream_gene_variant MELA-AU 19 47229700 47229700 single base substitution G A intron_variant MELA-AU 19 47229700 47229700 single base substitution G A upstream_gene_variant MELA-AU 19 47229736 47229736 single base substitution G T downstream_gene_variant MELA-AU 19 47229736 47229736 single base substitution G T intron_variant MELA-AU 19 47229736 47229736 single base substitution G T upstream_gene_variant MELA-AU 19 47229800 47229800 single base substitution G A downstream_gene_variant MELA-AU 19 47229800 47229800 single base substitution G A intron_variant MELA-AU 19 47229800 47229800 single base substitution G A upstream_gene_variant MELA-AU 19 47229814 47229814 single base substitution G A downstream_gene_variant MELA-AU 19 47229814 47229814 single base substitution G A intron_variant MELA-AU 19 47229814 47229814 single base substitution G A upstream_gene_variant MELA-AU 19 47229928 47229928 single base substitution G A downstream_gene_variant MELA-AU 19 47229928 47229928 single base substitution G A intron_variant MELA-AU 19 47229928 47229928 single base substitution G A upstream_gene_variant MELA-AU 19 47230848 47230848 single base substitution G A downstream_gene_variant MELA-AU 19 47230848 47230848 single base substitution G A exon_variant MELA-AU 19 47230848 47230848 single base substitution G A intron_variant MELA-AU 19 47230848 47230848 single base substitution G A synonymous_variant A55A 165C>T MELA-AU 19 47230848 47230848 single base substitution G A upstream_gene_variant MELA-AU 19 47231288 47231288 single base substitution G A 3_prime_UTR_variant MELA-AU 19 47231288 47231288 single base substitution G A downstream_gene_variant MELA-AU 19 47231288 47231288 single base substitution G A exon_variant MELA-AU 19 47231288 47231288 single base substitution G A intron_variant MELA-AU 19 47231288 47231288 single base substitution G A upstream_gene_variant MELA-AU 19 47231722 47231722 single base substitution G A downstream_gene_variant MELA-AU 19 47231722 47231722 single base substitution G A intron_variant MELA-AU 19 47231722 47231722 single base substitution G A upstream_gene_variant MELA-AU 19 47231884 47231884 single base substitution G A downstream_gene_variant MELA-AU 19 47231884 47231884 single base substitution G A exon_variant MELA-AU 19 47231884 47231884 single base substitution G A missense_variant H225Y 673C>T MELA-AU 19 47231884 47231884 single base substitution G A missense_variant H344Y 1030C>T MELA-AU 19 47231884 47231884 single base substitution G A upstream_gene_variant MELA-AU 19 47231915 47231915 single base substitution G A downstream_gene_variant MELA-AU 19 47231915 47231915 single base substitution G A exon_variant MELA-AU 19 47231915 47231915 single base substitution G A synonymous_variant D214D 642C>T MELA-AU 19 47231915 47231915 single base substitution G A synonymous_variant D333D 999C>T MELA-AU 19 47231915 47231915 single base substitution G A upstream_gene_variant MELA-AU 19 47232653 47232654 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 47232653 47232654 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 47232653 47232654 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 47232682 47232682 insertion of <=200bp - C downstream_gene_variant MELA-AU 19 47232682 47232682 insertion of <=200bp - C intron_variant MELA-AU 19 47232682 47232682 insertion of <=200bp - C upstream_gene_variant MELA-AU 19 47232760 47232760 single base substitution G A downstream_gene_variant MELA-AU 19 47232760 47232760 single base substitution G A intron_variant MELA-AU 19 47232760 47232760 single base substitution G A upstream_gene_variant MELA-AU 19 47233083 47233083 single base substitution G A downstream_gene_variant MELA-AU 19 47233083 47233083 single base substitution G A intron_variant MELA-AU 19 47233083 47233083 single base substitution G A upstream_gene_variant MELA-AU 19 47233126 47233126 single base substitution G A downstream_gene_variant MELA-AU 19 47233126 47233126 single base substitution G A intron_variant MELA-AU 19 47233126 47233126 single base substitution G A upstream_gene_variant MELA-AU 19 47233613 47233613 single base substitution G T downstream_gene_variant MELA-AU 19 47233613 47233613 single base substitution G T intron_variant MELA-AU 19 47233613 47233613 single base substitution G T upstream_gene_variant MELA-AU 19 47233614 47233614 single base substitution G A downstream_gene_variant MELA-AU 19 47233614 47233614 single base substitution G A intron_variant MELA-AU 19 47233614 47233614 single base substitution G A upstream_gene_variant MELA-AU 19 47233674 47233674 single base substitution G A downstream_gene_variant MELA-AU 19 47233674 47233674 single base substitution G A intron_variant MELA-AU 19 47233674 47233674 single base substitution G A upstream_gene_variant MELA-AU 19 47233689 47233689 single base substitution G A downstream_gene_variant MELA-AU 19 47233689 47233689 single base substitution G A intron_variant MELA-AU 19 47233689 47233689 single base substitution G A upstream_gene_variant MELA-AU 19 47234191 47234191 single base substitution G A downstream_gene_variant MELA-AU 19 47234191 47234191 single base substitution G A intron_variant MELA-AU 19 47234191 47234191 single base substitution G A upstream_gene_variant MELA-AU 19 47234235 47234235 single base substitution A C downstream_gene_variant MELA-AU 19 47234235 47234235 single base substitution A C intron_variant MELA-AU 19 47234235 47234235 single base substitution A C upstream_gene_variant MELA-AU 19 47234517 47234517 single base substitution G A downstream_gene_variant MELA-AU 19 47234517 47234517 single base substitution G A intron_variant MELA-AU 19 47234517 47234517 single base substitution G A upstream_gene_variant MELA-AU 19 47234775 47234775 single base substitution G A downstream_gene_variant MELA-AU 19 47234775 47234775 single base substitution G A exon_variant MELA-AU 19 47234775 47234775 single base substitution G A intron_variant MELA-AU 19 47234775 47234775 single base substitution G A upstream_gene_variant MELA-AU 19 47235059 47235060 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 47235059 47235060 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 47235059 47235060 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 47235258 47235258 single base substitution G A downstream_gene_variant MELA-AU 19 47235258 47235258 single base substitution G A intron_variant MELA-AU 19 47235258 47235258 single base substitution G A upstream_gene_variant MELA-AU 19 47235563 47235563 single base substitution G A downstream_gene_variant MELA-AU 19 47235563 47235563 single base substitution G A intron_variant MELA-AU 19 47235563 47235563 single base substitution G A upstream_gene_variant MELA-AU 19 47236049 47236049 single base substitution C A downstream_gene_variant MELA-AU 19 47236049 47236049 single base substitution C A intron_variant MELA-AU 19 47236049 47236049 single base substitution C A upstream_gene_variant MELA-AU 19 47236057 47236057 single base substitution C T downstream_gene_variant MELA-AU 19 47236057 47236057 single base substitution C T intron_variant MELA-AU 19 47236057 47236057 single base substitution C T upstream_gene_variant MELA-AU 19 47236264 47236264 single base substitution G A downstream_gene_variant MELA-AU 19 47236264 47236264 single base substitution G A intron_variant MELA-AU 19 47236264 47236264 single base substitution G A upstream_gene_variant MELA-AU 19 47236365 47236365 single base substitution G A 3_prime_UTR_variant MELA-AU 19 47236365 47236365 single base substitution G A downstream_gene_variant MELA-AU 19 47236365 47236365 single base substitution G A exon_variant MELA-AU 19 47236365 47236365 single base substitution G A missense_variant P104L 311C>T MELA-AU 19 47236365 47236365 single base substitution G A missense_variant P223L 668C>T MELA-AU 19 47236365 47236365 single base substitution G A upstream_gene_variant MELA-AU 19 47236604 47236604 single base substitution C T downstream_gene_variant MELA-AU 19 47236604 47236604 single base substitution C T exon_variant MELA-AU 19 47236604 47236604 single base substitution C T intron_variant MELA-AU 19 47236604 47236604 single base substitution C T upstream_gene_variant MELA-AU 19 47237136 47237136 single base substitution A T downstream_gene_variant MELA-AU 19 47237136 47237136 single base substitution A T intron_variant MELA-AU 19 47237136 47237136 single base substitution A T splice_region_variant MELA-AU 19 47237136 47237136 single base substitution A T upstream_gene_variant MELA-AU 19 47237155 47237155 single base substitution G A downstream_gene_variant MELA-AU 19 47237155 47237155 single base substitution G A intron_variant MELA-AU 19 47237155 47237155 single base substitution G A upstream_gene_variant MELA-AU 19 47237553 47237553 single base substitution G A downstream_gene_variant MELA-AU 19 47237553 47237553 single base substitution G A intron_variant MELA-AU 19 47237553 47237553 single base substitution G A upstream_gene_variant MELA-AU 19 47237857 47237857 single base substitution G A downstream_gene_variant MELA-AU 19 47237857 47237857 single base substitution G A intron_variant MELA-AU 19 47237857 47237857 single base substitution G A upstream_gene_variant MELA-AU 19 47237861 47237861 single base substitution G A downstream_gene_variant MELA-AU 19 47237861 47237861 single base substitution G A intron_variant MELA-AU 19 47237861 47237861 single base substitution G A upstream_gene_variant MELA-AU 19 47238552 47238552 single base substitution G A downstream_gene_variant MELA-AU 19 47238552 47238552 single base substitution G A intron_variant MELA-AU 19 47238552 47238552 single base substitution G A upstream_gene_variant MELA-AU 19 47240002 47240002 single base substitution G A intron_variant MELA-AU 19 47240002 47240002 single base substitution G A upstream_gene_variant MELA-AU 19 47240435 47240436 deletion of <=200bp GA - intron_variant MELA-AU 19 47240435 47240436 deletion of <=200bp GA - upstream_gene_variant MELA-AU 19 47240630 47240630 single base substitution C G intron_variant MELA-AU 19 47240630 47240630 single base substitution C G upstream_gene_variant MELA-AU 19 47241021 47241021 single base substitution T C intron_variant MELA-AU 19 47241021 47241021 single base substitution T C upstream_gene_variant MELA-AU 19 47241053 47241053 single base substitution G A intron_variant MELA-AU 19 47241053 47241053 single base substitution G A upstream_gene_variant MELA-AU 19 47241668 47241669 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 19 47241668 47241669 multiple base substitution (>=2bp and <=200bp) GG AC upstream_gene_variant MELA-AU 19 47241684 47241685 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 47241684 47241685 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 47242278 47242278 single base substitution A C intron_variant MELA-AU 19 47242278 47242278 single base substitution A C upstream_gene_variant MELA-AU 19 47242283 47242283 single base substitution G A intron_variant MELA-AU 19 47242283 47242283 single base substitution G A upstream_gene_variant MELA-AU 19 47242338 47242338 single base substitution G A intron_variant MELA-AU 19 47242338 47242338 single base substitution G A upstream_gene_variant MELA-AU 19 47242742 47242742 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 19 47242742 47242742 single base substitution G A intron_variant MELA-AU 19 47242742 47242742 single base substitution G A upstream_gene_variant MELA-AU 19 47243295 47243295 single base substitution G A intron_variant MELA-AU 19 47243295 47243295 single base substitution G A upstream_gene_variant MELA-AU 19 47243498 47243498 single base substitution A C 5_prime_UTR_variant MELA-AU 19 47243498 47243498 single base substitution A C intron_variant MELA-AU 19 47243498 47243498 single base substitution A C upstream_gene_variant MELA-AU 19 47243529 47243529 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 19 47243529 47243529 single base substitution G A intron_variant MELA-AU 19 47243529 47243529 single base substitution G A upstream_gene_variant MELA-AU 19 47244205 47244205 single base substitution G A intron_variant MELA-AU 19 47244205 47244205 single base substitution G A upstream_gene_variant MELA-AU 19 47244401 47244401 single base substitution G A intron_variant MELA-AU 19 47244401 47244401 single base substitution G A upstream_gene_variant MELA-AU 19 47245193 47245194 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 19 47245193 47245194 multiple base substitution (>=2bp and <=200bp) CC TA upstream_gene_variant MELA-AU 19 47245217 47245217 single base substitution A C intron_variant MELA-AU 19 47245217 47245217 single base substitution A C upstream_gene_variant MELA-AU 19 47246100 47246100 single base substitution G A intron_variant MELA-AU 19 47246100 47246100 single base substitution G A upstream_gene_variant MELA-AU 19 47246923 47246923 single base substitution G A intron_variant MELA-AU 19 47246923 47246923 single base substitution G A upstream_gene_variant MELA-AU 19 47247933 47247933 single base substitution C A intron_variant MELA-AU 19 47248019 47248019 single base substitution G A intron_variant MELA-AU 19 47249896 47249896 single base substitution C T 5_prime_UTR_variant MELA-AU 19 47249896 47249896 single base substitution C T intron_variant MELA-AU 19 47249896 47249896 single base substitution C T upstream_gene_variant MELA-AU 19 47250638 47250638 single base substitution G A upstream_gene_variant MELA-AU 19 47251199 47251199 single base substitution C T upstream_gene_variant MELA-AU 19 47251675 47251675 single base substitution C T upstream_gene_variant MELA-AU 19 47251963 47251963 single base substitution C T upstream_gene_variant MELA-AU 19 47252496 47252496 single base substitution G A upstream_gene_variant MELA-AU 19 47253198 47253198 single base substitution C T upstream_gene_variant MELA-AU 19 47253217 47253217 single base substitution C T upstream_gene_variant MELA-AU 19 47253319 47253319 single base substitution G T upstream_gene_variant MELA-AU 19 47253337 47253337 single base substitution T C upstream_gene_variant MELA-AU 19 47253773 47253773 single base substitution G A upstream_gene_variant MELA-AU 19 47253873 47253873 single base substitution C T upstream_gene_variant MELA-AU 19 47254024 47254024 single base substitution G A upstream_gene_variant MELA-AU 19 47254700 47254700 single base substitution G A upstream_gene_variant MELA-AU 19 47254759 47254759 single base substitution C T upstream_gene_variant MELA-AU 19 47255193 47255193 single base substitution G A upstream_gene_variant ORCA-IN 19 47228830 47228830 single base substitution G T 3_prime_UTR_variant ORCA-IN 19 47228830 47228830 single base substitution G T downstream_gene_variant ORCA-IN 19 47228830 47228830 single base substitution G T exon_variant ORCA-IN 19 47228830 47228830 single base substitution G T missense_variant R122S 364C>A ORCA-IN 19 47228830 47228830 single base substitution G T missense_variant R323S 967C>A ORCA-IN 19 47228830 47228830 single base substitution G T missense_variant R442S 1324C>A ORCA-IN 19 47228830 47228830 single base substitution G T missense_variant R449S 1345C>A ORCA-IN 19 47228830 47228830 single base substitution G T upstream_gene_variant ORCA-IN 19 47234780 47234780 single base substitution C T downstream_gene_variant ORCA-IN 19 47234780 47234780 single base substitution C T exon_variant ORCA-IN 19 47234780 47234780 single base substitution C T intron_variant ORCA-IN 19 47234780 47234780 single base substitution C T upstream_gene_variant OV-AU 19 47218813 47218813 single base substitution A G downstream_gene_variant OV-AU 19 47220466 47220466 single base substitution T G downstream_gene_variant OV-AU 19 47226625 47226625 single base substitution C A downstream_gene_variant OV-AU 19 47226625 47226625 single base substitution C A intron_variant OV-AU 19 47226625 47226625 single base substitution C A upstream_gene_variant OV-AU 19 47229641 47229641 single base substitution C T downstream_gene_variant OV-AU 19 47229641 47229641 single base substitution C T intron_variant OV-AU 19 47229641 47229641 single base substitution C T upstream_gene_variant OV-AU 19 47235074 47235074 single base substitution G T downstream_gene_variant OV-AU 19 47235074 47235074 single base substitution G T intron_variant OV-AU 19 47235074 47235074 single base substitution G T upstream_gene_variant OV-AU 19 47235450 47235450 single base substitution G C downstream_gene_variant OV-AU 19 47235450 47235450 single base substitution G C intron_variant OV-AU 19 47235450 47235450 single base substitution G C upstream_gene_variant OV-AU 19 47235891 47235891 single base substitution C T downstream_gene_variant OV-AU 19 47235891 47235891 single base substitution C T intron_variant OV-AU 19 47235891 47235891 single base substitution C T upstream_gene_variant OV-AU 19 47254292 47254292 single base substitution G A upstream_gene_variant PACA-AU 19 47224095 47224095 single base substitution C T downstream_gene_variant PACA-AU 19 47224095 47224095 single base substitution C T exon_variant PACA-AU 19 47224095 47224095 single base substitution C T intron_variant PACA-AU 19 47224737 47224738 deletion of <=200bp CA - downstream_gene_variant PACA-AU 19 47224737 47224738 deletion of <=200bp CA - exon_variant PACA-AU 19 47224737 47224738 deletion of <=200bp CA - intron_variant PACA-AU 19 47226405 47226407 deletion of <=200bp GCT - downstream_gene_variant PACA-AU 19 47226405 47226407 deletion of <=200bp GCT - exon_variant PACA-AU 19 47226405 47226407 deletion of <=200bp GCT - inframe_deletion S21 PACA-AU 19 47226405 47226407 deletion of <=200bp GCT - inframe_deletion S257 PACA-AU 19 47226405 47226407 deletion of <=200bp GCT - inframe_deletion S458 PACA-AU 19 47226405 47226407 deletion of <=200bp GCT - inframe_deletion S577 PACA-AU 19 47226405 47226407 deletion of <=200bp GCT - inframe_deletion S584 PACA-AU 19 47226405 47226407 deletion of <=200bp GCT - upstream_gene_variant PACA-AU 19 47228090 47228090 single base substitution A C 3_prime_UTR_variant PACA-AU 19 47228090 47228090 single base substitution A C downstream_gene_variant PACA-AU 19 47228090 47228090 single base substitution A C exon_variant PACA-AU 19 47228090 47228090 single base substitution A C missense_variant L203R 608T>G PACA-AU 19 47228090 47228090 single base substitution A C missense_variant L404R 1211T>G PACA-AU 19 47228090 47228090 single base substitution A C missense_variant L523R 1568T>G PACA-AU 19 47228090 47228090 single base substitution A C missense_variant L530R 1589T>G PACA-AU 19 47228090 47228090 single base substitution A C upstream_gene_variant PACA-AU 19 47231803 47231803 single base substitution G A downstream_gene_variant PACA-AU 19 47231803 47231803 single base substitution G A intron_variant PACA-AU 19 47231803 47231803 single base substitution G A upstream_gene_variant PACA-AU 19 47233165 47233165 single base substitution G A downstream_gene_variant PACA-AU 19 47233165 47233165 single base substitution G A intron_variant PACA-AU 19 47233165 47233165 single base substitution G A upstream_gene_variant PACA-AU 19 47234375 47234375 single base substitution G A downstream_gene_variant PACA-AU 19 47234375 47234375 single base substitution G A intron_variant PACA-AU 19 47234375 47234375 single base substitution G A upstream_gene_variant PACA-AU 19 47238173 47238173 single base substitution G A downstream_gene_variant PACA-AU 19 47238173 47238173 single base substitution G A intron_variant PACA-AU 19 47238173 47238173 single base substitution G A upstream_gene_variant PACA-AU 19 47241216 47241216 single base substitution C T intron_variant PACA-AU 19 47241216 47241216 single base substitution C T upstream_gene_variant PACA-AU 19 47241529 47241529 single base substitution G A intron_variant PACA-AU 19 47241529 47241529 single base substitution G A upstream_gene_variant PACA-AU 19 47248613 47248613 single base substitution G T intron_variant PACA-CA 19 47221174 47221174 single base substitution A G downstream_gene_variant PACA-CA 19 47221901 47221901 single base substitution A G downstream_gene_variant PACA-CA 19 47231558 47231558 single base substitution T A downstream_gene_variant PACA-CA 19 47231558 47231558 single base substitution T A exon_variant PACA-CA 19 47231558 47231558 single base substitution T A intron_variant PACA-CA 19 47231558 47231558 single base substitution T A splice_region_variant PACA-CA 19 47231558 47231558 single base substitution T A upstream_gene_variant PACA-CA 19 47238546 47238546 single base substitution G A downstream_gene_variant PACA-CA 19 47238546 47238546 single base substitution G A intron_variant PACA-CA 19 47238546 47238546 single base substitution G A upstream_gene_variant PACA-CA 19 47240759 47240759 single base substitution T A intron_variant PACA-CA 19 47240759 47240759 single base substitution T A upstream_gene_variant PACA-CA 19 47240919 47240919 single base substitution A C intron_variant PACA-CA 19 47240919 47240919 single base substitution A C upstream_gene_variant PACA-CA 19 47242954 47242954 single base substitution G C intron_variant PACA-CA 19 47242954 47242954 single base substitution G C upstream_gene_variant PACA-CA 19 47243452 47243452 single base substitution A T 5_prime_UTR_variant PACA-CA 19 47243452 47243452 single base substitution A T intron_variant PACA-CA 19 47243452 47243452 single base substitution A T upstream_gene_variant PACA-CA 19 47245829 47245829 insertion of <=200bp - T intron_variant PACA-CA 19 47245829 47245829 insertion of <=200bp - T upstream_gene_variant PACA-CA 19 47246273 47246273 single base substitution A G intron_variant PACA-CA 19 47246273 47246273 single base substitution A G upstream_gene_variant PACA-CA 19 47251287 47251287 single base substitution C T upstream_gene_variant PACA-CA 19 47254071 47254071 single base substitution C T upstream_gene_variant PAEN-AU 19 47220466 47220466 single base substitution T G downstream_gene_variant PAEN-AU 19 47245664 47245664 single base substitution G A intron_variant PAEN-AU 19 47245664 47245664 single base substitution G A upstream_gene_variant PAEN-IT 19 47229314 47229314 single base substitution G T downstream_gene_variant PAEN-IT 19 47229314 47229314 single base substitution G T exon_variant PAEN-IT 19 47229314 47229314 single base substitution G T intron_variant PAEN-IT 19 47229314 47229314 single base substitution G T upstream_gene_variant PBCA-DE 19 47220279 47220279 single base substitution T G downstream_gene_variant PBCA-DE 19 47235369 47235369 single base substitution A C downstream_gene_variant PBCA-DE 19 47235369 47235369 single base substitution A C intron_variant PBCA-DE 19 47235369 47235369 single base substitution A C upstream_gene_variant PBCA-DE 19 47242873 47242873 single base substitution T G intron_variant PBCA-DE 19 47242873 47242873 single base substitution T G upstream_gene_variant PBCA-DE 19 47246510 47246511 deletion of <=200bp CA - intron_variant PBCA-DE 19 47246510 47246511 deletion of <=200bp CA - upstream_gene_variant PRAD-CA 19 47223197 47223197 single base substitution G A 3_prime_UTR_variant PRAD-CA 19 47223197 47223197 single base substitution G A downstream_gene_variant PRAD-CA 19 47223197 47223197 single base substitution G A exon_variant PRAD-CA 19 47237021 47237021 single base substitution G A downstream_gene_variant PRAD-CA 19 47237021 47237021 single base substitution G A intron_variant PRAD-CA 19 47237021 47237021 single base substitution G A upstream_gene_variant PRAD-CA 19 47253994 47253994 single base substitution C T upstream_gene_variant PRAD-UK 19 47223193 47223193 single base substitution G A 3_prime_UTR_variant PRAD-UK 19 47223193 47223193 single base substitution G A downstream_gene_variant PRAD-UK 19 47223193 47223193 single base substitution G A exon_variant PRAD-UK 19 47233207 47233207 single base substitution G C downstream_gene_variant PRAD-UK 19 47233207 47233207 single base substitution G C intron_variant PRAD-UK 19 47233207 47233207 single base substitution G C upstream_gene_variant PRAD-UK 19 47251519 47251519 single base substitution C T upstream_gene_variant PRAD-US 19 47236332 47236332 single base substitution G T 3_prime_UTR_variant PRAD-US 19 47236332 47236332 single base substitution G T downstream_gene_variant PRAD-US 19 47236332 47236332 single base substitution G T exon_variant PRAD-US 19 47236332 47236332 single base substitution G T stop_gained S115* 344C>A PRAD-US 19 47236332 47236332 single base substitution G T stop_gained S234* 701C>A PRAD-US 19 47236332 47236332 single base substitution G T synonymous_variant ?115 PRAD-US 19 47236332 47236332 single base substitution G T upstream_gene_variant READ-US 19 47226387 47226387 single base substitution G T downstream_gene_variant READ-US 19 47226387 47226387 single base substitution G T exon_variant READ-US 19 47226387 47226387 single base substitution G T synonymous_variant T263T 789C>A READ-US 19 47226387 47226387 single base substitution G T synonymous_variant T27T 81C>A READ-US 19 47226387 47226387 single base substitution G T synonymous_variant T464T 1392C>A READ-US 19 47226387 47226387 single base substitution G T synonymous_variant T583T 1749C>A READ-US 19 47226387 47226387 single base substitution G T synonymous_variant T590T 1770C>A READ-US 19 47226387 47226387 single base substitution G T upstream_gene_variant RECA-EU 19 47228149 47228149 single base substitution A T 3_prime_UTR_variant RECA-EU 19 47228149 47228149 single base substitution A T downstream_gene_variant RECA-EU 19 47228149 47228149 single base substitution A T exon_variant RECA-EU 19 47228149 47228149 single base substitution A T missense_variant S183R 549T>A RECA-EU 19 47228149 47228149 single base substitution A T missense_variant S384R 1152T>A RECA-EU 19 47228149 47228149 single base substitution A T missense_variant S503R 1509T>A RECA-EU 19 47228149 47228149 single base substitution A T missense_variant S510R 1530T>A RECA-EU 19 47228149 47228149 single base substitution A T upstream_gene_variant RECA-EU 19 47231887 47231887 single base substitution G T downstream_gene_variant RECA-EU 19 47231887 47231887 single base substitution G T exon_variant RECA-EU 19 47231887 47231887 single base substitution G T missense_variant P224T 670C>A RECA-EU 19 47231887 47231887 single base substitution G T missense_variant P343T 1027C>A RECA-EU 19 47231887 47231887 single base substitution G T upstream_gene_variant RECA-EU 19 47238730 47238730 single base substitution G C downstream_gene_variant RECA-EU 19 47238730 47238730 single base substitution G C intron_variant RECA-EU 19 47238730 47238730 single base substitution G C upstream_gene_variant RECA-EU 19 47245694 47245694 single base substitution A G intron_variant RECA-EU 19 47245694 47245694 single base substitution A G upstream_gene_variant RECA-EU 19 47251782 47251782 single base substitution T C upstream_gene_variant SKCA-BR 19 47217914 47217914 single base substitution A C downstream_gene_variant SKCA-BR 19 47221001 47221001 single base substitution A C downstream_gene_variant SKCA-BR 19 47222363 47222363 single base substitution T G downstream_gene_variant SKCA-BR 19 47222418 47222418 single base substitution T G downstream_gene_variant SKCA-BR 19 47223102 47223102 single base substitution G A 3_prime_UTR_variant SKCA-BR 19 47223102 47223102 single base substitution G A downstream_gene_variant SKCA-BR 19 47223102 47223102 single base substitution G A exon_variant SKCA-BR 19 47224461 47224461 single base substitution T G downstream_gene_variant SKCA-BR 19 47224461 47224461 single base substitution T G exon_variant SKCA-BR 19 47224461 47224461 single base substitution T G intron_variant SKCA-BR 19 47225390 47225390 single base substitution G A downstream_gene_variant SKCA-BR 19 47225390 47225390 single base substitution G A exon_variant SKCA-BR 19 47225390 47225390 single base substitution G A intron_variant SKCA-BR 19 47225390 47225390 single base substitution G A upstream_gene_variant SKCA-BR 19 47225399 47225399 single base substitution G A downstream_gene_variant SKCA-BR 19 47225399 47225399 single base substitution G A exon_variant SKCA-BR 19 47225399 47225399 single base substitution G A intron_variant SKCA-BR 19 47225399 47225399 single base substitution G A upstream_gene_variant SKCA-BR 19 47225604 47225604 single base substitution G A downstream_gene_variant SKCA-BR 19 47225604 47225604 single base substitution G A intron_variant SKCA-BR 19 47225604 47225604 single base substitution G A splice_region_variant SKCA-BR 19 47225604 47225604 single base substitution G A upstream_gene_variant SKCA-BR 19 47226767 47226767 single base substitution G A downstream_gene_variant SKCA-BR 19 47226767 47226767 single base substitution G A intron_variant SKCA-BR 19 47226767 47226767 single base substitution G A upstream_gene_variant SKCA-BR 19 47227506 47227517 deletion of <=200bp CAAAAAAAAAAA - downstream_gene_variant SKCA-BR 19 47227506 47227517 deletion of <=200bp CAAAAAAAAAAA - intron_variant SKCA-BR 19 47227506 47227517 deletion of <=200bp CAAAAAAAAAAA - upstream_gene_variant SKCA-BR 19 47228293 47228293 single base substitution T A downstream_gene_variant SKCA-BR 19 47228293 47228293 single base substitution T A intron_variant SKCA-BR 19 47228293 47228293 single base substitution T A upstream_gene_variant SKCA-BR 19 47229172 47229172 single base substitution G A downstream_gene_variant SKCA-BR 19 47229172 47229172 single base substitution G A exon_variant SKCA-BR 19 47229172 47229172 single base substitution G A intron_variant SKCA-BR 19 47229172 47229172 single base substitution G A upstream_gene_variant SKCA-BR 19 47229606 47229606 single base substitution T G downstream_gene_variant SKCA-BR 19 47229606 47229606 single base substitution T G intron_variant SKCA-BR 19 47229606 47229606 single base substitution T G upstream_gene_variant SKCA-BR 19 47231555 47231555 single base substitution A C downstream_gene_variant SKCA-BR 19 47231555 47231555 single base substitution A C exon_variant SKCA-BR 19 47231555 47231555 single base substitution A C intron_variant SKCA-BR 19 47231555 47231555 single base substitution A C splice_donor_variant SKCA-BR 19 47231555 47231555 single base substitution A C upstream_gene_variant SKCA-BR 19 47231950 47231950 single base substitution G A downstream_gene_variant SKCA-BR 19 47231950 47231950 single base substitution G A exon_variant SKCA-BR 19 47231950 47231950 single base substitution G A synonymous_variant L203L 607C>T SKCA-BR 19 47231950 47231950 single base substitution G A synonymous_variant L322L 964C>T SKCA-BR 19 47231950 47231950 single base substitution G A upstream_gene_variant SKCA-BR 19 47232478 47232478 single base substitution G A downstream_gene_variant SKCA-BR 19 47232478 47232478 single base substitution G A intron_variant SKCA-BR 19 47232478 47232478 single base substitution G A upstream_gene_variant SKCA-BR 19 47234247 47234247 single base substitution C T downstream_gene_variant SKCA-BR 19 47234247 47234247 single base substitution C T intron_variant SKCA-BR 19 47234247 47234247 single base substitution C T upstream_gene_variant SKCA-BR 19 47236090 47236090 single base substitution G A downstream_gene_variant SKCA-BR 19 47236090 47236090 single base substitution G A intron_variant SKCA-BR 19 47236090 47236090 single base substitution G A upstream_gene_variant SKCA-BR 19 47238112 47238112 single base substitution G A downstream_gene_variant SKCA-BR 19 47238112 47238112 single base substitution G A intron_variant SKCA-BR 19 47238112 47238112 single base substitution G A upstream_gene_variant SKCA-BR 19 47240562 47240562 single base substitution G A intron_variant SKCA-BR 19 47240562 47240562 single base substitution G A upstream_gene_variant SKCA-BR 19 47240563 47240563 single base substitution G A intron_variant SKCA-BR 19 47240563 47240563 single base substitution G A upstream_gene_variant SKCA-BR 19 47241261 47241261 single base substitution G A intron_variant SKCA-BR 19 47241261 47241261 single base substitution G A upstream_gene_variant SKCA-BR 19 47242528 47242528 single base substitution C T intron_variant SKCA-BR 19 47242528 47242528 single base substitution C T upstream_gene_variant SKCA-BR 19 47242685 47242685 single base substitution G A 5_prime_UTR_variant SKCA-BR 19 47242685 47242685 single base substitution G A intron_variant SKCA-BR 19 47242685 47242685 single base substitution G A upstream_gene_variant SKCA-BR 19 47245085 47245085 single base substitution C T intron_variant SKCA-BR 19 47245085 47245085 single base substitution C T upstream_gene_variant SKCA-BR 19 47249168 47249168 single base substitution A C intron_variant SKCA-BR 19 47249168 47249168 single base substitution A C upstream_gene_variant SKCA-BR 19 47249761 47249761 single base substitution T C 5_prime_UTR_variant SKCA-BR 19 47249761 47249761 single base substitution T C intron_variant SKCA-BR 19 47249761 47249761 single base substitution T C upstream_gene_variant SKCA-BR 19 47251601 47251601 single base substitution A T upstream_gene_variant SKCA-BR 19 47253506 47253506 single base substitution T G upstream_gene_variant SKCA-BR 19 47253522 47253522 single base substitution T C upstream_gene_variant SKCM-US 19 47219486 47219486 single base substitution G A downstream_gene_variant SKCM-US 19 47219569 47219569 single base substitution G A downstream_gene_variant SKCM-US 19 47225256 47225256 single base substitution G A downstream_gene_variant SKCM-US 19 47225256 47225256 single base substitution G A exon_variant SKCM-US 19 47225256 47225256 single base substitution G A synonymous_variant F137F 411C>T SKCM-US 19 47225256 47225256 single base substitution G A synonymous_variant F574F 1722C>T SKCM-US 19 47225256 47225256 single base substitution G A synonymous_variant F693F 2079C>T SKCM-US 19 47225256 47225256 single base substitution G A synonymous_variant F700F 2100C>T SKCM-US 19 47225256 47225256 single base substitution G A upstream_gene_variant SKCM-US 19 47225277 47225277 single base substitution G A downstream_gene_variant SKCM-US 19 47225277 47225277 single base substitution G A exon_variant SKCM-US 19 47225277 47225277 single base substitution G A synonymous_variant A130A 390C>T SKCM-US 19 47225277 47225277 single base substitution G A synonymous_variant A567A 1701C>T SKCM-US 19 47225277 47225277 single base substitution G A synonymous_variant A686A 2058C>T SKCM-US 19 47225277 47225277 single base substitution G A synonymous_variant A693A 2079C>T SKCM-US 19 47225277 47225277 single base substitution G A upstream_gene_variant SKCM-US 19 47226080 47226080 single base substitution G A downstream_gene_variant SKCM-US 19 47226080 47226080 single base substitution G A exon_variant SKCM-US 19 47226080 47226080 single base substitution G A synonymous_variant S311S 933C>T SKCM-US 19 47226080 47226080 single base substitution G A synonymous_variant S512S 1536C>T SKCM-US 19 47226080 47226080 single base substitution G A synonymous_variant S631S 1893C>T SKCM-US 19 47226080 47226080 single base substitution G A synonymous_variant S638S 1914C>T SKCM-US 19 47226080 47226080 single base substitution G A synonymous_variant S75S 225C>T SKCM-US 19 47226080 47226080 single base substitution G A upstream_gene_variant SKCM-US 19 47226197 47226197 single base substitution G A downstream_gene_variant SKCM-US 19 47226197 47226197 single base substitution G A exon_variant SKCM-US 19 47226197 47226197 single base substitution G A synonymous_variant V272V 816C>T SKCM-US 19 47226197 47226197 single base substitution G A synonymous_variant V36V 108C>T SKCM-US 19 47226197 47226197 single base substitution G A synonymous_variant V473V 1419C>T SKCM-US 19 47226197 47226197 single base substitution G A synonymous_variant V592V 1776C>T SKCM-US 19 47226197 47226197 single base substitution G A synonymous_variant V599V 1797C>T SKCM-US 19 47226197 47226197 single base substitution G A upstream_gene_variant SKCM-US 19 47226405 47226407 deletion of <=200bp GCT - downstream_gene_variant SKCM-US 19 47226405 47226407 deletion of <=200bp GCT - exon_variant SKCM-US 19 47226405 47226407 deletion of <=200bp GCT - inframe_deletion S21 SKCM-US 19 47226405 47226407 deletion of <=200bp GCT - inframe_deletion S257 SKCM-US 19 47226405 47226407 deletion of <=200bp GCT - inframe_deletion S458 SKCM-US 19 47226405 47226407 deletion of <=200bp GCT - inframe_deletion S577 SKCM-US 19 47226405 47226407 deletion of <=200bp GCT - inframe_deletion S584 SKCM-US 19 47226405 47226407 deletion of <=200bp GCT - upstream_gene_variant SKCM-US 19 47228113 47228113 single base substitution G A 3_prime_UTR_variant SKCM-US 19 47228113 47228113 single base substitution G A downstream_gene_variant SKCM-US 19 47228113 47228113 single base substitution G A exon_variant SKCM-US 19 47228113 47228113 single base substitution G A synonymous_variant I195I 585C>T SKCM-US 19 47228113 47228113 single base substitution G A synonymous_variant I396I 1188C>T SKCM-US 19 47228113 47228113 single base substitution G A synonymous_variant I515I 1545C>T SKCM-US 19 47228113 47228113 single base substitution G A synonymous_variant I522I 1566C>T SKCM-US 19 47228113 47228113 single base substitution G A upstream_gene_variant SKCM-US 19 47228830 47228830 single base substitution G A 3_prime_UTR_variant SKCM-US 19 47228830 47228830 single base substitution G A downstream_gene_variant SKCM-US 19 47228830 47228830 single base substitution G A exon_variant SKCM-US 19 47228830 47228830 single base substitution G A missense_variant R122C 364C>T SKCM-US 19 47228830 47228830 single base substitution G A missense_variant R323C 967C>T SKCM-US 19 47228830 47228830 single base substitution G A missense_variant R442C 1324C>T SKCM-US 19 47228830 47228830 single base substitution G A missense_variant R449C 1345C>T SKCM-US 19 47228830 47228830 single base substitution G A upstream_gene_variant SKCM-US 19 47228866 47228866 single base substitution G A 3_prime_UTR_variant SKCM-US 19 47228866 47228866 single base substitution G A downstream_gene_variant SKCM-US 19 47228866 47228866 single base substitution G A exon_variant SKCM-US 19 47228866 47228866 single base substitution G A missense_variant P110S 328C>T SKCM-US 19 47228866 47228866 single base substitution G A missense_variant P311S 931C>T SKCM-US 19 47228866 47228866 single base substitution G A missense_variant P430S 1288C>T SKCM-US 19 47228866 47228866 single base substitution G A missense_variant P437S 1309C>T SKCM-US 19 47228866 47228866 single base substitution G A upstream_gene_variant SKCM-US 19 47230774 47230774 single base substitution C T 3_prime_UTR_variant SKCM-US 19 47230774 47230774 single base substitution C T downstream_gene_variant SKCM-US 19 47230774 47230774 single base substitution C T exon_variant SKCM-US 19 47230774 47230774 single base substitution C T missense_variant G276R 826G>A SKCM-US 19 47230774 47230774 single base substitution C T missense_variant G395R 1183G>A SKCM-US 19 47230774 47230774 single base substitution C T missense_variant G402R 1204G>A SKCM-US 19 47230774 47230774 single base substitution C T missense_variant R80Q 239G>A SKCM-US 19 47230774 47230774 single base substitution C T upstream_gene_variant SKCM-US 19 47231919 47231919 single base substitution G T downstream_gene_variant SKCM-US 19 47231919 47231919 single base substitution G T exon_variant SKCM-US 19 47231919 47231919 single base substitution G T missense_variant P213Q 638C>A SKCM-US 19 47231919 47231919 single base substitution G T missense_variant P332Q 995C>A SKCM-US 19 47231919 47231919 single base substitution G T upstream_gene_variant SKCM-US 19 47232010 47232010 single base substitution C T downstream_gene_variant SKCM-US 19 47232010 47232010 single base substitution C T exon_variant SKCM-US 19 47232010 47232010 single base substitution C T missense_variant E183K 547G>A SKCM-US 19 47232010 47232010 single base substitution C T missense_variant E302K 904G>A SKCM-US 19 47232010 47232010 single base substitution C T upstream_gene_variant SKCM-US 19 47234012 47234012 insertion of <=200bp - CA 3_prime_UTR_variant SKCM-US 19 47234012 47234012 insertion of <=200bp - CA downstream_gene_variant SKCM-US 19 47234012 47234012 insertion of <=200bp - CA exon_variant SKCM-US 19 47234012 47234012 insertion of <=200bp - CA frameshift_variant Q167L? SKCM-US 19 47234012 47234012 insertion of <=200bp - CA frameshift_variant Q286L? SKCM-US 19 47234012 47234012 insertion of <=200bp - CA upstream_gene_variant STAD-US 19 47224014 47224014 single base substitution G T downstream_gene_variant STAD-US 19 47224014 47224014 single base substitution G T exon_variant STAD-US 19 47224014 47224014 single base substitution G T missense_variant L147M 439C>A STAD-US 19 47224014 47224014 single base substitution G T missense_variant L584M 1750C>A STAD-US 19 47224014 47224014 single base substitution G T missense_variant L703M 2107C>A STAD-US 19 47224014 47224014 single base substitution G T missense_variant L710M 2128C>A STAD-US 19 47225261 47225261 single base substitution C T downstream_gene_variant STAD-US 19 47225261 47225261 single base substitution C T exon_variant STAD-US 19 47225261 47225261 single base substitution C T missense_variant A136T 406G>A STAD-US 19 47225261 47225261 single base substitution C T missense_variant A573T 1717G>A STAD-US 19 47225261 47225261 single base substitution C T missense_variant A692T 2074G>A STAD-US 19 47225261 47225261 single base substitution C T missense_variant A699T 2095G>A STAD-US 19 47225261 47225261 single base substitution C T upstream_gene_variant STAD-US 19 47225520 47225520 single base substitution G A downstream_gene_variant STAD-US 19 47225520 47225520 single base substitution G A exon_variant STAD-US 19 47225520 47225520 single base substitution G A missense_variant R106C 316C>T STAD-US 19 47225520 47225520 single base substitution G A missense_variant R543C 1627C>T STAD-US 19 47225520 47225520 single base substitution G A missense_variant R662C 1984C>T STAD-US 19 47225520 47225520 single base substitution G A missense_variant R669C 2005C>T STAD-US 19 47225520 47225520 single base substitution G A upstream_gene_variant STAD-US 19 47226079 47226079 single base substitution G A downstream_gene_variant STAD-US 19 47226079 47226079 single base substitution G A exon_variant STAD-US 19 47226079 47226079 single base substitution G A missense_variant R312W 934C>T STAD-US 19 47226079 47226079 single base substitution G A missense_variant R513W 1537C>T STAD-US 19 47226079 47226079 single base substitution G A missense_variant R632W 1894C>T STAD-US 19 47226079 47226079 single base substitution G A missense_variant R639W 1915C>T STAD-US 19 47226079 47226079 single base substitution G A missense_variant R76W 226C>T STAD-US 19 47226079 47226079 single base substitution G A upstream_gene_variant STAD-US 19 47228899 47228899 single base substitution C T 3_prime_UTR_variant STAD-US 19 47228899 47228899 single base substitution C T downstream_gene_variant STAD-US 19 47228899 47228899 single base substitution C T exon_variant STAD-US 19 47228899 47228899 single base substitution C T intron_variant STAD-US 19 47228899 47228899 single base substitution C T missense_variant D300N 898G>A STAD-US 19 47228899 47228899 single base substitution C T missense_variant D419N 1255G>A STAD-US 19 47228899 47228899 single base substitution C T missense_variant D426N 1276G>A STAD-US 19 47228899 47228899 single base substitution C T upstream_gene_variant STAD-US 19 47228903 47228903 single base substitution C T downstream_gene_variant STAD-US 19 47228903 47228903 single base substitution C T exon_variant STAD-US 19 47228903 47228903 single base substitution C T intron_variant STAD-US 19 47228903 47228903 single base substitution C T splice_region_variant STAD-US 19 47228903 47228903 single base substitution C T upstream_gene_variant STAD-US 19 47230796 47230796 single base substitution G A 3_prime_UTR_variant STAD-US 19 47230796 47230796 single base substitution G A downstream_gene_variant STAD-US 19 47230796 47230796 single base substitution G A exon_variant STAD-US 19 47230796 47230796 single base substitution G A missense_variant H73Y 217C>T STAD-US 19 47230796 47230796 single base substitution G A synonymous_variant F268F 804C>T STAD-US 19 47230796 47230796 single base substitution G A synonymous_variant F387F 1161C>T STAD-US 19 47230796 47230796 single base substitution G A synonymous_variant F394F 1182C>T STAD-US 19 47230796 47230796 single base substitution G A upstream_gene_variant STAD-US 19 47231155 47231155 single base substitution A G 3_prime_UTR_variant STAD-US 19 47231155 47231155 single base substitution A G downstream_gene_variant STAD-US 19 47231155 47231155 single base substitution A G exon_variant STAD-US 19 47231155 47231155 single base substitution A G synonymous_variant H20H 60T>C STAD-US 19 47231155 47231155 single base substitution A G synonymous_variant H264H 792T>C STAD-US 19 47231155 47231155 single base substitution A G synonymous_variant H383H 1149T>C STAD-US 19 47231155 47231155 single base substitution A G upstream_gene_variant STAD-US 19 47234126 47234126 single base substitution C T 3_prime_UTR_variant STAD-US 19 47234126 47234126 single base substitution C T downstream_gene_variant STAD-US 19 47234126 47234126 single base substitution C T exon_variant STAD-US 19 47234126 47234126 single base substitution C T missense_variant A129T 385G>A STAD-US 19 47234126 47234126 single base substitution C T missense_variant A248T 742G>A STAD-US 19 47234126 47234126 single base substitution C T upstream_gene_variant STAD-US 19 47236438 47236438 single base substitution C T 3_prime_UTR_variant STAD-US 19 47236438 47236438 single base substitution C T downstream_gene_variant STAD-US 19 47236438 47236438 single base substitution C T exon_variant STAD-US 19 47236438 47236438 single base substitution C T missense_variant V199I 595G>A STAD-US 19 47236438 47236438 single base substitution C T missense_variant V80I 238G>A STAD-US 19 47236438 47236438 single base substitution C T upstream_gene_variant STAD-US 19 47236446 47236446 single base substitution G T 3_prime_UTR_variant STAD-US 19 47236446 47236446 single base substitution G T downstream_gene_variant STAD-US 19 47236446 47236446 single base substitution G T exon_variant STAD-US 19 47236446 47236446 single base substitution G T missense_variant S196Y 587C>A STAD-US 19 47236446 47236446 single base substitution G T missense_variant S77Y 230C>A STAD-US 19 47236446 47236446 single base substitution G T upstream_gene_variant STAD-US 19 47240136 47240136 single base substitution C T exon_variant STAD-US 19 47240136 47240136 single base substitution C T synonymous_variant S161S 483G>A STAD-US 19 47240136 47240136 single base substitution C T synonymous_variant S42S 126G>A STAD-US 19 47240136 47240136 single base substitution C T upstream_gene_variant STAD-US 19 47242056 47242056 single base substitution C T exon_variant STAD-US 19 47242056 47242056 single base substitution C T synonymous_variant A124A 372G>A STAD-US 19 47242056 47242056 single base substitution C T synonymous_variant A5A 15G>A STAD-US 19 47242056 47242056 single base substitution C T upstream_gene_variant STAD-US 19 47242087 47242087 single base substitution A G 5_prime_UTR_variant STAD-US 19 47242087 47242087 single base substitution A G exon_variant STAD-US 19 47242087 47242087 single base substitution A G missense_variant L114P 341T>C STAD-US 19 47242087 47242087 single base substitution A G upstream_gene_variant THCA-SA 19 47223949 47223949 single base substitution G A downstream_gene_variant THCA-SA 19 47223949 47223949 single base substitution G A exon_variant THCA-SA 19 47223949 47223949 single base substitution G A synonymous_variant H168H 504C>T THCA-SA 19 47223949 47223949 single base substitution G A synonymous_variant H605H 1815C>T THCA-SA 19 47223949 47223949 single base substitution G A synonymous_variant H724H 2172C>T THCA-SA 19 47223949 47223949 single base substitution G A synonymous_variant H731H 2193C>T UCEC-US 19 47223927 47223927 single base substitution C T downstream_gene_variant UCEC-US 19 47223927 47223927 single base substitution C T exon_variant UCEC-US 19 47223927 47223927 single base substitution C T missense_variant A176T 526G>A UCEC-US 19 47223927 47223927 single base substitution C T missense_variant A613T 1837G>A UCEC-US 19 47223927 47223927 single base substitution C T missense_variant A732T 2194G>A UCEC-US 19 47223927 47223927 single base substitution C T missense_variant A739T 2215G>A UCEC-US 19 47230775 47230775 single base substitution G A 3_prime_UTR_variant UCEC-US 19 47230775 47230775 single base substitution G A downstream_gene_variant UCEC-US 19 47230775 47230775 single base substitution G A exon_variant UCEC-US 19 47230775 47230775 single base substitution G A missense_variant R80W 238C>T UCEC-US 19 47230775 47230775 single base substitution G A synonymous_variant G275G 825C>T UCEC-US 19 47230775 47230775 single base substitution G A synonymous_variant G394G 1182C>T UCEC-US 19 47230775 47230775 single base substitution G A synonymous_variant G401G 1203C>T UCEC-US 19 47230775 47230775 single base substitution G A upstream_gene_variant UCEC-US 19 47240116 47240116 single base substitution G A exon_variant UCEC-US 19 47240116 47240116 single base substitution G A missense_variant P168L 503C>T UCEC-US 19 47240116 47240116 single base substitution G A missense_variant P49L 146C>T UCEC-US 19 47240116 47240116 single base substitution G A upstream_gene_variant UCEC-US 19 47242057 47242057 single base substitution G A exon_variant UCEC-US 19 47242057 47242057 single base substitution G A missense_variant A124V 371C>T UCEC-US 19 47242057 47242057 single base substitution G A missense_variant A5V 14C>T UCEC-US 19 47242057 47242057 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HCC16T COSM1612459 c.1222A>T p.T408S Substitution - Missense 19:46727478-46727478 - GC_370T-GC_370N COSM4773287 c.461-7C>A p.? Unknown 19:46736908-46736908 - BCM265T COSM4955165 c.250G>T p.A84S Substitution - Missense 19:46746181-46746181 - TCGA-EB-A41A-01 COSM3536203 c.1545C>T p.I515I Substitution - coding silent 19:46724856-46724856 - PD24322a COSM5793006 c.547G>C p.E183Q Substitution - Missense 19:46733229-46733229 - 61 COSM5741655 c.515A>G p.K172R Substitution - Missense 19:46736847-46736847 - WSU-HN13 COSM4590713 c.1532C>G p.A511G Substitution - Missense 19:46724869-46724869 - sysucc-882T COSM5447330 c.731T>C p.I244T Substitution - Missense 19:46733045-46733045 - TCGA-BR-4362-01 COSM4079628 c.341T>C p.L114P Substitution - Missense 19:46738830-46738830 - SW1116 COSM4284632 c.741C>T p.N247N Substitution - coding silent 19:46730870-46730870 - MOLT-4 COSM1681153 c.2087C>G p.S696* Substitution - Nonsense 19:46721991-46721991 - TCGA-CD-A4MI-01 COSM4079625 c.372G>A p.A124A Substitution - coding silent 19:46738799-46738799 - WM3211 COSM3727264 c.1457C>T p.A486V Substitution - Missense 19:46725347-46725347 - 61 COSM5741654 c.515A>G p.K172R Substitution - Missense 19:46736847-46736847 - TCGA-FD-A3SP-01 COSM3797296 c.630C>T p.N210N Substitution - coding silent 19:46733146-46733146 - ESCC_170 COSM5649334 c.1040-1G>A p.? Unknown 19:46728008-46728008 - TCGA-CD-A4MG-01 COSM4079612 c.1251G>A p.L417L Substitution - coding silent 19:46725646-46725646 - I2L-P7-Tumor-Organoid COSM5365518 c.1381C>A p.L461I Substitution - Missense 19:46725537-46725537 - CHC892T COSM4960040 c.414G>A p.G138G Substitution - coding silent 19:46738210-46738210 - T3503 COSM4730687 c.2066C>A p.P689H Substitution - Missense 19:46722012-46722012 - 526LT COSM4382100 c.2228G>A p.S743N Substitution - Missense 19:46720657-46720657 - HCC089T COSM5822393 c.1808T>C p.V603A Substitution - Missense 19:46722929-46722929 - TCGA-EK-A2RJ-01 COSM4831981 c.2021C>G p.S674C Substitution - Missense 19:46722057-46722057 - TCGA-BR-4184-01 COSM4079605 c.2074G>A p.A692T Substitution - Missense 19:46722004-46722004 - HCC16T COSM3707241 c.1243A>T p.T415S Substitution - Missense 19:46727478-46727478 - pfg143T COSM4754424 c.931G>A p.D311N Substitution - Missense 19:46728726-46728726 - TCGA-HJ-7597-01 COSM4079606 c.2005C>T p.R669C Substitution - Missense 19:46722263-46722263 - PDA_004 COSM4079619 c.595G>A p.V199I Substitution - Missense 19:46733181-46733181 - CHC197T COSM5419809 c.461-9A>C p.? Unknown 19:46736910-46736910 - PT37 COSM5921594 c.397C>T p.H133Y Substitution - Missense 19:46738227-46738227 - Pat_14_B COSM5856235 c.434A>G p.E145G Substitution - Missense 19:46738190-46738190 - TCGA-EI-6882-01 COSM3422939 c.1770C>A p.T590T Substitution - coding silent 19:46723130-46723130 - TCGA-18-4083-01 COSM4858406 c.1179C>G p.V393V Substitution - coding silent 19:46727542-46727542 - T3254 COSM4730691 c.1729_1731delAGC p.S577delS Deletion - In frame 19:46723148-46723150 - sysucc-880T COSM4079626 c.372G>A p.A124A Substitution - coding silent 19:46738799-46738799 - T2197 COSM4730697 c.903C>T p.P301P Substitution - coding silent 19:46728754-46728754 - HX27T COSM3707243 c.887C>T p.S296F Substitution - Missense 19:46728770-46728770 - C0065T COSM4154269 c.1509T>A p.S503R Substitution - Missense 19:46724892-46724892 - TCGA-BR-4184-01 COSM4079604 c.2095G>A p.A699T Substitution - Missense 19:46722004-46722004 - 07-P8041 COSM4581239 c.894T>C p.A298A Substitution - coding silent 19:46728763-46728763 - 07-P8041 COSM4581240 c.894T>C p.A298A Substitution - coding silent 19:46728763-46728763 - 61 COSM5741652 c.1881G>A p.M627I Substitution - Missense 19:46722856-46722856 - S02255 COSM5680615 c.1906G>T p.G636C Substitution - Missense 19:46722810-46722810 - TCGA-FD-A3N5-01 COSM4811384 c.1790A>G p.H597R Substitution - Missense 19:46722947-46722947 - TCGA-B0-5709-01 COSM474948 c.1464G>C p.R488R Substitution - coding silent 19:46725340-46725340 - TCGA-B5-A11M-01 COSM4864018 c.503C>T p.P168L Substitution - Missense 19:46736859-46736859 - LIM1899 COSM4640228 c.1984G>A p.A662T Substitution - Missense 19:46722284-46722284 - PT49 COSM3105664 c.1418C>T p.A473V Substitution - Missense 19:46725479-46725479 - BICR_22 COSM4590713 c.1532C>G p.A511G Substitution - Missense 19:46724869-46724869 - I2L-P7-Tumor-Organoid COSM5365519 c.1360C>A p.L454I Substitution - Missense 19:46725537-46725537 - TCGA-EE-A3AC-06 COSM3536205 c.904G>A p.E302K Substitution - Missense 19:46728753-46728753 - TCGA-HU-A4GT-01 COSM4079609 c.1276G>A p.D426N Substitution - Missense 19:46725642-46725642 - TCGA-EE-A2MR-06 COSM3536200 c.1797C>T p.V599V Substitution - coding silent 19:46722940-46722940 - WM3211 COSM3727263 c.1478C>T p.A493V Substitution - Missense 19:46725347-46725347 - TCGA-A6-6653-01 COSM4783277 c.1885G>A p.V629I Substitution - Missense 19:46722852-46722852 - T578 COSM4730695 c.1294T>C p.F432L Substitution - Missense 19:46725603-46725603 - NOKSI COSM4590713 c.1532C>G p.A511G Substitution - Missense 19:46724869-46724869 - 93VU147T COSM4590713 c.1532C>G p.A511G Substitution - Missense 19:46724869-46724869 - T3658 COSM3105666 c.1383G>A p.T461T Substitution - coding silent 19:46725514-46725514 - H442 COSM5044112 c.1222G>A p.D408N Substitution - Missense 19:46727499-46727499 - CRC-02T COSM5454750 c.1011C>T p.C337C Substitution - coding silent 19:46728646-46728646 - 8014825 COSM3389160 c.1589T>G p.L530R Substitution - Missense 19:46724833-46724833 - TCGA-GJ-A6C0-01 COSM4929995 c.1048C>G p.R350G Substitution - Missense 19:46727999-46727999 - Pat_41_B COSM5856232 c.685C>T p.L229F Substitution - Missense 19:46733091-46733091 - 863TCS COSM673870 c.1234G>A p.D412N Substitution - Missense 19:46727466-46727466 - HX27T COSM3707242 c.887C>T p.S296F Substitution - Missense 19:46728770-46728770 - TCGA-BR-8487-01 COSM4079603 c.2107C>A p.L703M Substitution - Missense 19:46720757-46720757 - TCGA-GN-A26C-01 COSM3536197 c.2100C>T p.F700F Substitution - coding silent 19:46721999-46721999 - 526LT COSM4382101 c.2207G>A p.S736N Substitution - Missense 19:46720657-46720657 - TCGA-BR-4362-01 COSM4079615 c.1149T>C p.H383H Substitution - coding silent 19:46727898-46727898 - T2957 COSM4730693 c.1325G>A p.R442H Substitution - Missense 19:46725572-46725572 - CHEWS032 COSM4581237 c.1431G>A p.A477A Substitution - coding silent 19:46725487-46725487 - T2957 COSM4730692 c.1346G>A p.R449H Substitution - Missense 19:46725572-46725572 - P04-1084 COSM247642 c.1922A>G p.N641S Substitution - Missense 19:46722325-46722325 - TCGA-B5-A11E-01 COSM998480 c.2194G>A p.A732T Substitution - Missense 19:46720670-46720670 - TCGA-FW-A3R5-06 COSM3892938 c.2058C>T p.A686A Substitution - coding silent 19:46722020-46722020 - T3503 COSM4730686 c.2087C>A p.P696H Substitution - Missense 19:46722012-46722012 - 3N48-VS-3T48 COSM4638246 c.1635C>T p.D545D Substitution - coding silent 19:46723244-46723244 - 2290929 COSM4440529 c.1399G>A p.G467S Substitution - Missense 19:46725519-46725519 - TCGA-CG-4436-01 COSM4079618 c.742G>A p.A248T Substitution - Missense 19:46730869-46730869 - GC_370T-GC_370N COSM4773286 c.461-7C>A p.? Unknown 19:46736908-46736908 - BCM265T COSM4955165 c.250G>T p.A84S Substitution - Missense 19:46746181-46746181 - TCGA-CD-A4MG-01 COSM4079611 c.1272G>A p.L424L Substitution - coding silent 19:46725646-46725646 - BD184T COSM5517721 c.2070C>T p.N690N Substitution - coding silent 19:46722008-46722008 - TCGA-G4-6628-01 COSM3692907 c.598C>T p.R200C Substitution - Missense 19:46733178-46733178 - DLD1 COSM4624037 c.1788G>A p.E596E Substitution - coding silent 19:46722949-46722949 - TCGA-EB-A41A-01 COSM3536202 c.1566C>T p.I522I Substitution - coding silent 19:46724856-46724856 - 8014825 COSM3389161 c.1568T>G p.L523R Substitution - Missense 19:46724833-46724833 - TCGA-HU-A4GT-01 COSM4079610 c.1255G>A p.D419N Substitution - Missense 19:46725642-46725642 - T3225 COSM4730689 c.1955C>T p.T652I Substitution - Missense 19:46722292-46722292 - TCGA-HC-7075-01 COSM3672954 c.701C>A p.S234* Substitution - Nonsense 19:46733075-46733075 - LIM2551 COSM4644228 c.2182C>T p.R728C Substitution - Missense 19:46720703-46720703 - DLD1 COSM4284613 c.1326C>T p.R442R Substitution - coding silent 19:46725592-46725592 - TCGA-BR-7851-01 COSM4079622 c.587C>A p.S196Y Substitution - Missense 19:46733189-46733189 - B5 COSM253849 c.612C>A p.G204G Substitution - coding silent 19:46733164-46733164 - PDA_004 COSM4079620 c.595G>A p.V199I Substitution - Missense 19:46733181-46733181 - CHEWS032 COSM4581238 c.1410G>A p.A470A Substitution - coding silent 19:46725487-46725487 - 2250162 COSM5029964 c.1318G>A p.G440S Substitution - Missense 19:46725579-46725579 - 3N48-VS-3T48 COSM4638245 c.1656C>T p.D552D Substitution - coding silent 19:46723244-46723244 - TCGA-AA-3821-01 COSM294859 c.1985G>A p.R662H Substitution - Missense 19:46722262-46722262 - 1517_PT COSM5755417 c.194T>C p.L65P Substitution - Missense 19:46746237-46746237 - TCGA-FW-A3R5-06 COSM3892940 c.1309C>T p.P437S Substitution - Missense 19:46725609-46725609 - TCGA-HU-A4G8-01 COSM4079620 c.595G>A p.V199I Substitution - Missense 19:46733181-46733181 - T3254 COSM4730690 c.1750_1752delAGC p.S584delS Deletion - In frame 19:46723148-46723150 - TCGA-D9-A6E9-06 COSM4399597 c.995C>A p.P332Q Substitution - Missense 19:46728662-46728662 - BD184T COSM5517720 c.2091C>T p.N697N Substitution - coding silent 19:46722008-46722008 - 1848_T COSM3960223 c.622G>T p.E208* Substitution - Nonsense 19:46733154-46733154 - TCGA-D9-A6E9-06 COSM4399596 c.995C>A p.P332Q Substitution - Missense 19:46728662-46728662 - EGC15 COSM5056780 c.702G>A p.S234S Substitution - coding silent 19:46733074-46733074 - TCGA-HU-A4H8-01 COSM4079623 c.483G>A p.S161S Substitution - coding silent 19:46736879-46736879 - OSCC-GB_00130111 COSM3712968 c.1345C>A p.R449S Substitution - Missense 19:46725573-46725573 - DLD1 COSM3105668 c.1305C>T p.R435R Substitution - coding silent 19:46725592-46725592 - TCGA-BP-5007-01 COSM474947 c.1777C>T p.P593S Substitution - Missense 19:46722939-46722939 - CHC892T COSM4960039 c.414G>A p.G138G Substitution - coding silent 19:46738210-46738210 - TCGA-AX-A0J1-01 COSM998484 c.371C>T p.A124V Substitution - Missense 19:46738800-46738800 - TCGA-GJ-A6C0-01 COSM4929996 c.1048C>G p.R350G Substitution - Missense 19:46727999-46727999 - TCGA-HU-A4H8-01 COSM4079624 c.483G>A p.S161S Substitution - coding silent 19:46736879-46736879 - HCC16 COSM1612459 c.1222A>T p.T408S Substitution - Missense 19:46727478-46727478 - PD4601a COSM4809811 c.779C>A p.S260* Substitution - Nonsense 19:46730832-46730832 - TCGA-DD-A1EI-01 COSM4940531 c.2060T>C p.V687A Substitution - Missense 19:46722018-46722018 - OSCC-GB_00130111 COSM3712969 c.1324C>A p.R442S Substitution - Missense 19:46725573-46725573 - T3658 COSM4284611 c.1404G>A p.T468T Substitution - coding silent 19:46725514-46725514 - PT49 COSM4284609 c.1439C>T p.A480V Substitution - Missense 19:46725479-46725479 - TCGA-BR-6452-01 COSM4079607 c.1915C>T p.R639W Substitution - Missense 19:46722822-46722822 - TCGA-FD-A3SP-01 COSM3797297 c.630C>T p.N210N Substitution - coding silent 19:46733146-46733146 - C0059T COSM4154270 c.1027C>A p.P343T Substitution - Missense 19:46728630-46728630 - TCGA-DK-A3WW-01 COSM3797295 c.2107C>G p.L703V Substitution - Missense 19:46720757-46720757 - 1517_PT COSM5755416 c.194T>C p.L65P Substitution - Missense 19:46746237-46746237 - SH-0622 COSM5017574 c.213delT p.F71fs*40 Deletion - Frameshift 19:46746218-46746218 - PD4601a COSM164671 c.779C>A p.S260* Substitution - Nonsense 19:46730832-46730832 - TCGA-BR-4362-01 COSM4079627 c.341T>C p.L114P Substitution - Missense 19:46738830-46738830 - CHC197T COSM5419810 c.461-9A>C p.? Unknown 19:46736910-46736910 - TCGA-BR-4362-01 COSM4079616 c.1149T>C p.H383H Substitution - coding silent 19:46727898-46727898 - 2250187 COSM5030545 c.952G>A p.E318K Substitution - Missense 19:46728705-46728705 - Patient5_Tu COSM1235812 c.1082G>A p.R361Q Substitution - Missense 19:46727965-46727965 - sysucc-1067T COSM4581241 c.819C>T p.D273D Substitution - coding silent 19:46730792-46730792 - TCGA-18-4083-01 COSM712223 c.1158C>G p.V386V Substitution - coding silent 19:46727542-46727542 - BD14T COSM5517233 c.1309C>A p.H437N Substitution - Missense 19:46725588-46725588 - CHC892T COSM4960040 c.414G>A p.G138G Substitution - coding silent 19:46738210-46738210 - BD14T COSM5517232 c.1330C>A p.H444N Substitution - Missense 19:46725588-46725588 - HCC058T COSM5804037 c.1768A>T p.T590S Substitution - Missense 19:46723132-46723132 - TCGA-EE-A3AC-06 COSM3536206 c.904G>A p.E302K Substitution - Missense 19:46728753-46728753 - CSCC-7-T COSM4571743 c.531T>C p.L177L Substitution - coding silent 19:46736831-46736831 - Pat_14_B COSM5856234 c.434A>G p.E145G Substitution - Missense 19:46738190-46738190 - pfg143T COSM4754422 c.1287T>G p.D429E Substitution - Missense 19:46725631-46725631 - BN24 COSM1612458 c.2233G>A p.A745T Substitution - Missense 19:46720631-46720631 - TCGA-EB-A431-01 COSM3536199 c.1914C>T p.S638S Substitution - coding silent 19:46722823-46722823 - TCGA-FW-A3R5-06 COSM3892939 c.1345C>T p.R449C Substitution - Missense 19:46725573-46725573 - TCGA-GN-A26C-01 COSM3536198 c.2079C>T p.F693F Substitution - coding silent 19:46721999-46721999 - Pat_04_B COSM4730690 c.1750_1752delAGC p.S584delS Deletion - In frame 19:46723148-46723150 - 587284 COSM998484 c.371C>T p.A124V Substitution - Missense 19:46738800-46738800 - TCGA-FW-A3R5-06 COSM3892941 c.1288C>T p.P430S Substitution - Missense 19:46725609-46725609 - ESO-081 COSM1243648 c.1365C>T p.T455T Substitution - coding silent 19:46725532-46725532 - 14 COSM5732938 c.232C>T p.R78C Substitution - Missense 19:46746199-46746199 - TCGA-CG-4436-01 COSM4079617 c.742G>A p.A248T Substitution - Missense 19:46730869-46730869 - 2290929 COSM4440530 c.1378G>A p.G460S Substitution - Missense 19:46725519-46725519 - 1N49-VS-1T49 COSM4976448 c.1743C>G p.L581L Substitution - coding silent 19:46723136-46723136 - BICR_22 COSM4590712 c.1553C>G p.A518G Substitution - Missense 19:46724869-46724869 - WSU-HN8 COSM4590712 c.1553C>G p.A518G Substitution - Missense 19:46724869-46724869 - T2197 COSM4730696 c.903C>T p.P301P Substitution - coding silent 19:46728754-46728754 - TCGA-G4-6628-01 COSM3692906 c.598C>T p.R200C Substitution - Missense 19:46733178-46733178 - BCM265T COSM4955166 c.250G>T p.A84S Substitution - Missense 19:46746181-46746181 - C0065T COSM4154268 c.1530T>A p.S510R Substitution - Missense 19:46724892-46724892 - T3225 COSM4730688 c.1976C>T p.T659I Substitution - Missense 19:46722292-46722292 - T3021 COSM4730698 c.578A>G p.D193G Substitution - Missense 19:46733198-46733198 - sysucc-882T COSM5447331 c.731T>C p.I244T Substitution - Missense 19:46733045-46733045 - HCC089T COSM5822394 c.1787T>C p.V596A Substitution - Missense 19:46722929-46722929 - 93VU147T COSM4590712 c.1553C>G p.A518G Substitution - Missense 19:46724869-46724869 - C0059T COSM4154271 c.1027C>A p.P343T Substitution - Missense 19:46728630-46728630 - EGC15 COSM5056779 c.702G>A p.S234S Substitution - coding silent 19:46733074-46733074 - LIM1899 COSM4640229 c.1963G>A p.A655T Substitution - Missense 19:46722284-46722284 - TCGA-CD-A4MI-01 COSM4079626 c.372G>A p.A124A Substitution - coding silent 19:46738799-46738799 - CSCC-7-T COSM4571744 c.531T>C p.L177L Substitution - coding silent 19:46736831-46736831 - ESCC_170 COSM5649333 c.1040-1G>A p.? Unknown 19:46728008-46728008 - 14 COSM5732939 c.232C>T p.R78C Substitution - Missense 19:46746199-46746199 - TCGA-AO-A129-01 COSM439846 c.351G>A p.R117R Substitution - coding silent 19:46738820-46738820 - pfg143T COSM4754423 c.1266T>G p.D422E Substitution - Missense 19:46725631-46725631 - S02255 COSM5680614 c.1927G>T p.G643C Substitution - Missense 19:46722810-46722810 - sysucc-880T COSM4079625 c.372G>A p.A124A Substitution - coding silent 19:46738799-46738799 - pfg143T COSM4754425 c.931G>A p.D311N Substitution - Missense 19:46728726-46728726 - SH-0622 COSM5017573 c.213delT p.F71fs*40 Deletion - Frameshift 19:46746218-46746218 - CHEWS027 COSM4581242 c.819C>T p.D273D Substitution - coding silent 19:46730792-46730792 - TCGA-HU-A4H5-01 COSM4079614 c.1161C>T p.F387F Substitution - coding silent 19:46727539-46727539 - TCGA-EB-A4IS-01 COSM3536204 c.1204G>A p.G402R Substitution - Missense 19:46727517-46727517 - HT115 COSM4638246 c.1635C>T p.D545D Substitution - coding silent 19:46723244-46723244 - 61 COSM5741653 c.1860G>A p.M620I Substitution - Missense 19:46722856-46722856 - TCGA-EE-A2MR-06 COSM3536201 c.1776C>T p.V592V Substitution - coding silent 19:46722940-46722940 - TCGA-EK-A2RJ-01 COSM4831980 c.2042C>G p.S681C Substitution - Missense 19:46722057-46722057 - BN24T COSM1612458 c.2233G>A p.A745T Substitution - Missense 19:46720631-46720631 - HT115 COSM4638245 c.1656C>T p.D552D Substitution - coding silent 19:46723244-46723244 - NOKSI COSM4590712 c.1553C>G p.A518G Substitution - Missense 19:46724869-46724869 - WSU-HN13 COSM4590712 c.1553C>G p.A518G Substitution - Missense 19:46724869-46724869 - TCGA-EB-A4IS-01 COSM998481 c.1183G>A p.G395R Substitution - Missense 19:46727517-46727517 - TCGA-FW-A3R5-06 COSM129481 c.1324C>T p.R442C Substitution - Missense 19:46725573-46725573 - TCGA-B5-A11M-01 COSM998483 c.503C>T p.P168L Substitution - Missense 19:46736859-46736859 - TCGA-A6-6781-01 COSM1394806 c.335C>T p.T112M Substitution - Missense 19:46738836-46738836 - 2250187 COSM5030546 c.952G>A p.E318K Substitution - Missense 19:46728705-46728705 - WSU-HN8 COSM4590713 c.1532C>G p.A511G Substitution - Missense 19:46724869-46724869 - TCGA-HU-A4G8-01 COSM4079619 c.595G>A p.V199I Substitution - Missense 19:46733181-46733181 - TCGA-BR-7851-01 COSM4079621 c.587C>A p.S196Y Substitution - Missense 19:46733189-46733189 - BCM265T COSM4955166 c.250G>T p.A84S Substitution - Missense 19:46746181-46746181 - TCGA-FW-A3R5-06 COSM3892937 c.2079C>T p.A693A Substitution - coding silent 19:46722020-46722020 - TCGA-AO-A129-01 COSM4815078 c.351G>A p.R117R Substitution - coding silent 19:46738820-46738820 - TCGA-BP-4177-01 COSM1494373 c.738G>A p.R246R Substitution - coding silent 19:46730873-46730873 - H442 COSM5044113 c.1201G>A p.D401N Substitution - Missense 19:46727499-46727499 - TCGA-DK-A3WW-01 COSM3797294 c.2128C>G p.L710V Substitution - Missense 19:46720757-46720757 - TCGA-EI-6882-01 COSM3422940 c.1749C>A p.T583T Substitution - coding silent 19:46723130-46723130 - CHC892T COSM4960039 c.414G>A p.G138G Substitution - coding silent 19:46738210-46738210 - BN24 COSM3707240 c.2254G>A p.A752T Substitution - Missense 19:46720631-46720631 - Pat_41_B COSM5856233 c.685C>T p.L229F Substitution - Missense 19:46733091-46733091 - TCGA-A7-A0CE-01 COSM4814931 c.535C>T p.R179* Substitution - Nonsense 19:46736827-46736827 - SW1116 COSM3105688 c.741C>T p.N247N Substitution - coding silent 19:46730870-46730870 - TCGA-A6-6781-01 COSM4948764 c.335C>T p.T112M Substitution - Missense 19:46738836-46738836 - TCGA-A7-A0CE-01 COSM439845 c.535C>T p.R179* Substitution - Nonsense 19:46736827-46736827 - CHEWS027 COSM4581241 c.819C>T p.D273D Substitution - coding silent 19:46730792-46730792 - TCGA-D1-A17Q-01 COSM998482 c.1182C>T p.G394G Substitution - coding silent 19:46727518-46727518 - TCGA-A6-6653-01 COSM1394805 c.1864G>A p.V622I Substitution - Missense 19:46722852-46722852 - HCC16 COSM3707241 c.1243A>T p.T415S Substitution - Missense 19:46727478-46727478 - Pat_45_B COSM5856230 c.827G>A p.S276N Substitution - Missense 19:46730784-46730784 - CRC-02T COSM5454751 c.1011C>T p.C337C Substitution - coding silent 19:46728646-46728646 - HN_0-046 COSM129481 c.1324C>T p.R442C Substitution - Missense 19:46725573-46725573 - TCGA-B5-A11E-01 COSM4870211 c.2215G>A p.A739T Substitution - Missense 19:46720670-46720670 - BN24T COSM3707240 c.2254G>A p.A752T Substitution - Missense 19:46720631-46720631 - 2250162 COSM5029963 c.1339G>A p.G447S Substitution - Missense 19:46725579-46725579 - 13T COSM3712969 c.1324C>A p.R442S Substitution - Missense 19:46725573-46725573 - T3021 COSM4730699 c.578A>G p.D193G Substitution - Missense 19:46733198-46733198 - LIM2551 COSM191155 c.2161C>T p.R721C Substitution - Missense 19:46720703-46720703 - TCGA-FD-A3N5-01 COSM1304821 c.1769A>G p.H590R Substitution - Missense 19:46722947-46722947 - 13T COSM3712968 c.1345C>A p.R449S Substitution - Missense 19:46725573-46725573 - CSCC-27-T COSM4472938 c.1815C>T p.F605F Substitution - coding silent 19:46722922-46722922 - CSCC-27-T COSM4472939 c.1794C>T p.F598F Substitution - coding silent 19:46722922-46722922 - TCGA-HC-7075-01 COSM3672955 c.701C>A p.S234* Substitution - Nonsense 19:46733075-46733075 - TCGA-EB-A431-01 COSM3105660 c.1893C>T p.S631S Substitution - coding silent 19:46722823-46722823 - TCGA-B0-5709-01 COSM4857842 c.1485G>C p.R495R Substitution - coding silent 19:46725340-46725340 - HCC058T COSM5804038 c.1747A>T p.T583S Substitution - Missense 19:46723132-46723132 - TCGA-HU-A4H5-01 COSM4079613 c.1182C>T p.F394F Substitution - coding silent 19:46727539-46727539 - TCGA-D1-A17Q-01 COSM4865131 c.1203C>T p.G401G Substitution - coding silent 19:46727518-46727518 - sysucc-1067T COSM4581242 c.819C>T p.D273D Substitution - coding silent 19:46730792-46730792 - PT37 COSM5921593 c.397C>T p.H133Y Substitution - Missense 19:46738227-46738227 - PD24322a COSM5793007 c.547G>C p.E183Q Substitution - Missense 19:46733229-46733229 - DLD1 COSM4624038 c.1767G>A p.E589E Substitution - coding silent 19:46722949-46722949 - Pat_45_B COSM5856231 c.827G>A p.S276N Substitution - Missense 19:46730784-46730784 - TCGA-HJ-7597-01 COSM3105658 c.1984C>T p.R662C Substitution - Missense 19:46722263-46722263 - 1848_T COSM3960222 c.622G>T p.E208* Substitution - Nonsense 19:46733154-46733154 - ESO-859 COSM1240334 c.2059G>A p.V687M Substitution - Missense 19:46722019-46722019 - LUAD-F00121 COSM365737 c.1592A>G p.Y531C Substitution - Missense 19:46724809-46724809 - TCGA-AX-A0J1-01 COSM4867567 c.371C>T p.A124V Substitution - Missense 19:46738800-46738800 - T578 COSM4730694 c.1315T>C p.F439L Substitution - Missense 19:46725603-46725603 - TCGA-DD-A1EI-01 COSM4940530 c.2081T>C p.V694A Substitution - Missense 19:46722018-46722018 - TCGA-BR-6452-01 COSM4079608 c.1894C>T p.R632W Substitution - Missense 19:46722822-46722822 - Pat_04_B COSM4730691 c.1729_1731delAGC p.S577delS Deletion - In frame 19:46723148-46723150 - TCGA-BR-8487-01 COSM4079602 c.2128C>A p.L710M Substitution - Missense 19:46720757-46720757 - 1N49-VS-1T49 COSM4976447 c.1764C>G p.L588L Substitution - coding silent 19:46723136-46723136 - TCGA-D1-A176-01 COSM998481 c.1183G>A p.G395R Substitution - Missense 19:46727517-46727517 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.631589;Hs.631590 19q13.2 614767

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - CA Frameshift p.Q286Gfs*8 c.854_855insTG 19 47234013 CM C A Missense p.G228V c.683G>T 19 47236350 COREAD C G Synonymous p.R495R c.1485G>C 19 47228597 RCCC C T Missense p.A248T c.742G>A 19 47234126 STAD C T Missense p.D621N c.1861G>A 19 47226133 HNSC C T Missense p.E302K c.904G>A 19 47232010 CM C T Missense p.G640D c.1919G>A 19 47226075 HNSC C T Synonymous p.R117R c.351G>A 19 47242077 BRCA G A IntronicSNV . c.1040-111C>T 19 47231375 BRCA G A IntronicSNV . c.1154-28C>T 19 47230852 NSCLC G A Missense p.P168L c.503C>T 19 47240116 UCEC G A Missense p.R335W c.1003C>T 19 47231911 HNSC G A Missense p.R449C c.1345C>T 19 47228830 HNSC G A Missense p.R728C c.2182C>T 19 47223960 COREAD G A Missense p.S206L c.617C>T 19 47236416 STAD G A Missense p.T659I c.1976C>T 19 47225549 CM G A Nonsense p.R179* c.535C>T 19 47240084 BRCA G A Synonymous p.F700F c.2100C>T 19 47225256 CM G A Synonymous p.I522I c.1566C>T 19 47228113 CM G A Synonymous p.S390S c.1170C>T 19 47230808 CM G C Synonymous p.V393V c.1179C>G 19 47230799 LUSC GCT - InFrameDeletion p.S584delS c.1750_1752delAGC 19 47226405 CM G T Missense p.L746I c.2236C>A 19 47223906 LUAD G T Nonsense p.S234* c.701C>A 19 47236332 PRAD G T Nonsense p.S260* c.779C>A 19 47234089 BRCA T C Missense p.H597R c.1790A>G 19 47226204 BLCA