Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 5 141354380 141354380 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr5:141354380G>C c.166G>C c.(166-168)Gag>Cag p.E56Q BLCA 5 141358012 141358012 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr5:141358012C>T c.451C>T c.(451-453)Cag>Tag p.Q151* BLCA 5 141358302 141358302 + Silent SNP G G A TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr5:141358302G>A c.741G>A c.(739-741)ctG>ctA p.L247L BLCA 5 141358302 141358302 + Silent SNP G G A TCGA-E7-A7DV-01A-11D-A339-08 TCGA-E7-A7DV-10A-01D-A339-08 g.chr5:141358302G>A c.741G>A c.(739-741)ctG>ctA p.L247L BLCA 5 141359694 141359694 + Missense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 g.chr5:141359694G>C c.841G>C c.(841-843)Gag>Cag p.E281Q BRCA 5 141354446 141354446 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr5:141354446G>C c.232G>C c.(232-234)Gaa>Caa p.E78Q BRCA 5 141354478 141354478 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr5:141354478A>C c.264A>C c.(262-264)ccA>ccC p.P88P BRCA 5 141359713 141359714 + In_Frame_Ins INS - - AGG TCGA-AO-A0JF-01A-11W-A071-09 TCGA-AO-A0JF-10A-01W-A071-09 g.chr5:141359713_141359714insAGG c.860_861insAGG c.(859-864)ttattt>ttAGGattt p.287_288LF>LGF BRCA 5 141359789 141359789 + Silent SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 g.chr5:141359789G>A c.936G>A c.(934-936)ccG>ccA p.P312P BRCA 5 141359789 141359789 + Silent SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 g.chr5:141359789G>A c.936G>A c.(934-936)ccG>ccA p.P312P BRCA 5 141362978 141362978 + Frame_Shift_Del DEL A A - TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 g.chr5:141362978delA c.1097delA c.(1096-1098)caafs p.Q366fs CESC 5 141359694 141359694 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr5:141359694G>C c.841G>C c.(841-843)Gag>Cag p.E281Q CESC 5 141363115 141363115 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr5:141363115G>C c.1234G>C c.(1234-1236)Gag>Cag p.E412Q CHOL 5 141353306 141353306 + Splice_Site SNP C C T TCGA-4G-AAZT-01A-11D-A417-09 TCGA-4G-AAZT-10A-01D-A41A-09 g.chr5:141353306C>T c.153C>T c.(151-153)agC>agT p.S51S COAD 5 141353245 141353245 + Missense_Mutation SNP T T C TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr5:141353245T>C c.92T>C c.(91-93)gTc>gCc p.V31A COAD 5 141357922 141357922 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr5:141357922G>A c.361G>A c.(361-363)Gtg>Atg p.V121M COAD 5 141358278 141358278 + Silent SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:141358278G>A c.717G>A c.(715-717)agG>agA p.R239R COAD 5 141359736 141359738 + In_Frame_Del DEL CTC CTC - TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr5:141359736_141359738delCTC c.883_885delCTC c.(883-885)ctcdel p.L296del COAD 5 141362946 141362946 + Splice_Site SNP G G T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr5:141362946G>T c.1065G>T c.(1063-1065)gaG>gaT p.E355D COADREAD 5 141353245 141353245 + Missense_Mutation SNP T T C TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr5:141353245T>C c.92T>C c.(91-93)gTc>gCc p.V31A COADREAD 5 141357922 141357922 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr5:141357922G>A c.361G>A c.(361-363)Gtg>Atg p.V121M COADREAD 5 141358278 141358278 + Silent SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:141358278G>A c.717G>A c.(715-717)agG>agA p.R239R COADREAD 5 141359736 141359738 + In_Frame_Del DEL CTC CTC - TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr5:141359736_141359738delCTC c.883_885delCTC c.(883-885)ctcdel p.L296del COADREAD 5 141362946 141362946 + Splice_Site SNP G G T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr5:141362946G>T c.1065G>T c.(1063-1065)gaG>gaT p.E355D ESCA 5 141357922 141357922 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 g.chr5:141357922G>A c.361G>A c.(361-363)Gtg>Atg p.V121M GBMLGG 5 141353304 141353304 + Missense_Mutation SNP A A G TCGA-DU-7306-01A-11D-2086-08 TCGA-DU-7306-10A-01D-2086-08 g.chr5:141353304A>G c.151A>G c.(151-153)Agc>Ggc p.S51G GBMLGG 5 141357958 141357958 + Nonsense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:141357958G>T c.397G>T c.(397-399)Gag>Tag p.E133* HNSC 5 141353158 141353158 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 g.chr5:141353158C>T c.5C>T c.(4-6)tCg>tTg p.S2L HNSC 5 141357914 141357914 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 g.chr5:141357914G>A c.353G>A c.(352-354)cGt>cAt p.R118H HNSC 5 141358012 141358012 + Nonsense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 g.chr5:141358012C>T c.451C>T c.(451-453)Cag>Tag p.Q151* HNSC 5 141358039 141358039 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 g.chr5:141358039C>G c.478C>G c.(478-480)Caa>Gaa p.Q160E HNSC 5 141358230 141358230 + Silent SNP T T C TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 g.chr5:141358230T>C c.669T>C c.(667-669)tgT>tgC p.C223C HNSC 5 141359811 141359811 + Missense_Mutation SNP C C G TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 g.chr5:141359811C>G c.958C>G c.(958-960)Cag>Gag p.Q320E HNSC 5 141363007 141363007 + Missense_Mutation SNP G G T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 g.chr5:141363007G>T c.1126G>T c.(1126-1128)Gat>Tat p.D376Y KIPAN 5 141354465 141354465 + Missense_Mutation SNP C C A TCGA-GL-A9DE-01A-11D-A36X-10 TCGA-GL-A9DE-10A-01D-A370-10 g.chr5:141354465C>A c.251C>A c.(250-252)cCa>cAa p.P84Q KIPAN 5 141354483 141354483 + Missense_Mutation SNP C C T TCGA-CZ-5459-01A-01D-1501-10 TCGA-CZ-5459-11A-01D-1501-10 g.chr5:141354483C>T c.269C>T c.(268-270)tCa>tTa p.S90L KIPAN 5 141357883 141357883 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr5:141357883A>G c.322A>G c.(322-324)Aag>Gag p.K108E KIPAN 5 141357939 141357939 + Missense_Mutation SNP G G T TCGA-IA-A40U-01A-11D-A25F-10 TCGA-IA-A40U-10A-01D-A25F-10 g.chr5:141357939G>T c.378G>T c.(376-378)tgG>tgT p.W126C KIRC 5 141354483 141354483 + Missense_Mutation SNP C C T TCGA-CZ-5459-01A-01D-1501-10 TCGA-CZ-5459-11A-01D-1501-10 g.chr5:141354483C>T c.269C>T c.(268-270)tCa>tTa p.S90L KIRC 5 141357883 141357883 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr5:141357883A>G c.322A>G c.(322-324)Aag>Gag p.K108E KIRP 5 141354465 141354465 + Missense_Mutation SNP C C A TCGA-GL-A9DE-01A-11D-A36X-10 TCGA-GL-A9DE-10A-01D-A370-10 g.chr5:141354465C>A c.251C>A c.(250-252)cCa>cAa p.P84Q KIRP 5 141357939 141357939 + Missense_Mutation SNP G G T TCGA-IA-A40U-01A-11D-A25F-10 TCGA-IA-A40U-10A-01D-A25F-10 g.chr5:141357939G>T c.378G>T c.(376-378)tgG>tgT p.W126C LGG 5 141353304 141353304 + Missense_Mutation SNP A A G TCGA-DU-7306-01A-11D-2086-08 TCGA-DU-7306-10A-01D-2086-08 g.chr5:141353304A>G c.151A>G c.(151-153)Agc>Ggc p.S51G LGG 5 141357958 141357958 + Nonsense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:141357958G>T c.397G>T c.(397-399)Gag>Tag p.E133* LIHC 5 141358344 141358344 + Silent SNP A A G TCGA-ED-A7PX-01A-51D-A34Z-10 TCGA-ED-A7PX-10A-01D-A34Z-10 g.chr5:141358344A>G c.783A>G c.(781-783)caA>caG p.Q261Q LUAD 5 141354434 141354434 + Missense_Mutation SNP G G T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr5:141354434G>T c.220G>T c.(220-222)Gtg>Ttg p.V74L LUAD 5 141357914 141357914 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 g.chr5:141357914G>T c.353G>T c.(352-354)cGt>cTt p.R118L LUAD 5 141358145 141358145 + Missense_Mutation SNP C C T TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr5:141358145C>T c.584C>T c.(583-585)tCa>tTa p.S195L LUAD 5 141358338 141358338 + Missense_Mutation SNP G G T TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr5:141358338G>T c.777G>T c.(775-777)caG>caT p.Q259H LUAD 5 141359874 141359875 + Frame_Shift_Ins INS - - G TCGA-55-1595-01A-01D-0969-08 TCGA-55-1595-11A-01D-0969-08 g.chr5:141359874_141359875insG c.1021_1022insG c.(1021-1023)aggfs p.R341fs PAAD 5 141354446 141354446 + Nonsense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr5:141354446G>T c.232G>T c.(232-234)Gaa>Taa p.E78* PRAD 5 141359810 141359810 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr5:141359810G>A c.957G>A c.(955-957)atG>atA p.M319I PRAD 5 141364434 141364434 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr5:141364434G>A c.1303G>A c.(1303-1305)Ggt>Agt p.G435S SKCM 5 141359747 141359747 + Silent SNP C C A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:141359747C>A c.894C>A c.(892-894)tcC>tcA p.S298S SKCM 5 141367340 141367340 + Missense_Mutation SNP T T A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr5:141367340T>A c.1410T>A c.(1408-1410)gaT>gaA p.D470E

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 5 141334676 141334676 single base substitution C T upstream_gene_variant BLCA-CN 5 141335046 141335046 single base substitution C G upstream_gene_variant BLCA-CN 5 141336960 141336960 single base substitution G A upstream_gene_variant BLCA-CN 5 141337458 141337458 single base substitution C T upstream_gene_variant BLCA-US 5 141334867 141334867 single base substitution G C upstream_gene_variant BLCA-US 5 141336156 141336156 single base substitution C T upstream_gene_variant BLCA-US 5 141336269 141336269 single base substitution G A upstream_gene_variant BLCA-US 5 141336615 141336615 single base substitution C T upstream_gene_variant BRCA-EU 5 141335229 141335229 single base substitution C T upstream_gene_variant BRCA-EU 5 141336635 141336635 single base substitution G A upstream_gene_variant BRCA-EU 5 141336868 141336868 single base substitution A G upstream_gene_variant BRCA-EU 5 141338174 141338174 single base substitution G A intron_variant BRCA-EU 5 141340079 141340079 single base substitution G A intron_variant BRCA-EU 5 141340684 141340684 single base substitution G A intron_variant BRCA-EU 5 141340922 141340922 single base substitution G C intron_variant BRCA-EU 5 141340982 141340982 single base substitution G C intron_variant BRCA-EU 5 141343277 141343277 single base substitution G A intron_variant BRCA-EU 5 141343277 141343277 single base substitution G A upstream_gene_variant BRCA-EU 5 141343816 141343816 single base substitution C A intron_variant BRCA-EU 5 141343816 141343816 single base substitution C A upstream_gene_variant BRCA-EU 5 141344400 141344400 single base substitution C G intron_variant BRCA-EU 5 141344400 141344400 single base substitution C G upstream_gene_variant BRCA-EU 5 141345087 141345087 single base substitution C T intron_variant BRCA-EU 5 141345087 141345087 single base substitution C T upstream_gene_variant BRCA-EU 5 141346021 141346021 single base substitution C G intron_variant BRCA-EU 5 141346021 141346021 single base substitution C G upstream_gene_variant BRCA-EU 5 141350361 141350366 deletion of <=200bp AATGGG - 5_prime_UTR_variant BRCA-EU 5 141350361 141350366 deletion of <=200bp AATGGG - exon_variant BRCA-EU 5 141350361 141350366 deletion of <=200bp AATGGG - intron_variant BRCA-EU 5 141351531 141351531 single base substitution G A intron_variant BRCA-EU 5 141351795 141351795 single base substitution G A intron_variant BRCA-EU 5 141354829 141354831 deletion of <=200bp TCT - downstream_gene_variant BRCA-EU 5 141354829 141354831 deletion of <=200bp TCT - intron_variant BRCA-EU 5 141355544 141355544 insertion of <=200bp - AAT downstream_gene_variant BRCA-EU 5 141355544 141355544 insertion of <=200bp - AAT intron_variant BRCA-EU 5 141356666 141356666 single base substitution C T downstream_gene_variant BRCA-EU 5 141356666 141356666 single base substitution C T intron_variant BRCA-EU 5 141357009 141357009 single base substitution T C downstream_gene_variant BRCA-EU 5 141357009 141357009 single base substitution T C intron_variant BRCA-EU 5 141358057 141358057 single base substitution G A downstream_gene_variant BRCA-EU 5 141358057 141358057 single base substitution G A exon_variant BRCA-EU 5 141358057 141358057 single base substitution G A intron_variant BRCA-EU 5 141358057 141358057 single base substitution G A missense_variant E166K 496G>A BRCA-EU 5 141358057 141358057 single base substitution G A missense_variant E40K 118G>A BRCA-EU 5 141359013 141359013 single base substitution C T downstream_gene_variant BRCA-EU 5 141359013 141359013 single base substitution C T intron_variant BRCA-EU 5 141359638 141359638 single base substitution G A downstream_gene_variant BRCA-EU 5 141359638 141359638 single base substitution G A intron_variant BRCA-EU 5 141360128 141360128 single base substitution G C downstream_gene_variant BRCA-EU 5 141360128 141360128 single base substitution G C intron_variant BRCA-EU 5 141362096 141362096 single base substitution T C downstream_gene_variant BRCA-EU 5 141362096 141362096 single base substitution T C intron_variant BRCA-EU 5 141362889 141362889 insertion of <=200bp - T downstream_gene_variant BRCA-EU 5 141362889 141362889 insertion of <=200bp - T intron_variant BRCA-EU 5 141363424 141363424 deletion of <=200bp A - downstream_gene_variant BRCA-EU 5 141363424 141363424 deletion of <=200bp A - intron_variant BRCA-EU 5 141365508 141365508 single base substitution G C downstream_gene_variant BRCA-EU 5 141365508 141365508 single base substitution G C intron_variant BRCA-EU 5 141366765 141366765 single base substitution G A downstream_gene_variant BRCA-EU 5 141366765 141366765 single base substitution G A intron_variant BRCA-EU 5 141366983 141366983 single base substitution C T downstream_gene_variant BRCA-EU 5 141366983 141366983 single base substitution C T intron_variant BRCA-EU 5 141368084 141368084 single base substitution A G 3_prime_UTR_variant BRCA-EU 5 141368084 141368084 single base substitution A G downstream_gene_variant BRCA-EU 5 141368271 141368271 single base substitution G A 3_prime_UTR_variant BRCA-EU 5 141368271 141368271 single base substitution G A downstream_gene_variant BRCA-EU 5 141372632 141372632 single base substitution C T downstream_gene_variant BRCA-EU 5 141373084 141373084 single base substitution A C downstream_gene_variant BRCA-EU 5 141373828 141373828 single base substitution G A downstream_gene_variant BRCA-EU 5 141374014 141374014 single base substitution G T downstream_gene_variant BRCA-FR 5 141338389 141338389 single base substitution G A intron_variant BRCA-FR 5 141342409 141342409 single base substitution C T intron_variant BRCA-FR 5 141342409 141342409 single base substitution C T upstream_gene_variant BRCA-FR 5 141350985 141350985 single base substitution G A intron_variant BRCA-FR 5 141368271 141368271 single base substitution G A 3_prime_UTR_variant BRCA-FR 5 141368271 141368271 single base substitution G A downstream_gene_variant BRCA-FR 5 141369275 141369275 single base substitution A G 3_prime_UTR_variant BRCA-FR 5 141369275 141369275 single base substitution A G downstream_gene_variant BRCA-FR 5 141372632 141372632 single base substitution C T downstream_gene_variant BRCA-KR 5 141337110 141337110 single base substitution G C upstream_gene_variant BRCA-UK 5 141335016 141335016 single base substitution C T upstream_gene_variant BRCA-UK 5 141343816 141343816 single base substitution C A intron_variant BRCA-UK 5 141343816 141343816 single base substitution C A upstream_gene_variant BRCA-UK 5 141364140 141364140 single base substitution G C downstream_gene_variant BRCA-UK 5 141364140 141364140 single base substitution G C intron_variant BRCA-US 5 141334577 141334577 single base substitution T G upstream_gene_variant BRCA-US 5 141335925 141335925 single base substitution G A upstream_gene_variant BRCA-US 5 141336485 141336485 single base substitution T A upstream_gene_variant BRCA-US 5 141337395 141337395 single base substitution G C upstream_gene_variant BRCA-US 5 141354446 141354446 single base substitution G C downstream_gene_variant BRCA-US 5 141354446 141354446 single base substitution G C intron_variant BRCA-US 5 141354446 141354446 single base substitution G C missense_variant E78Q 232G>C BRCA-US 5 141354478 141354478 single base substitution A C downstream_gene_variant BRCA-US 5 141354478 141354478 single base substitution A C intron_variant BRCA-US 5 141354478 141354478 single base substitution A C synonymous_variant P88P 264A>C BRCA-US 5 141359713 141359713 insertion of <=200bp - AGG downstream_gene_variant BRCA-US 5 141359713 141359713 insertion of <=200bp - AGG exon_variant BRCA-US 5 141359713 141359713 insertion of <=200bp - AGG intron_variant BRCA-US 5 141359713 141359713 insertion of <=200bp - AGG stop_gained L111*V BRCA-US 5 141359713 141359713 insertion of <=200bp - AGG stop_gained L161*V BRCA-US 5 141359713 141359713 insertion of <=200bp - AGG stop_gained L287*V BRCA-US 5 141359789 141359789 single base substitution G A 3_prime_UTR_variant BRCA-US 5 141359789 141359789 single base substitution G A downstream_gene_variant BRCA-US 5 141359789 141359789 single base substitution G A exon_variant BRCA-US 5 141359789 141359789 single base substitution G A intron_variant BRCA-US 5 141359789 141359789 single base substitution G A synonymous_variant P136P 408G>A BRCA-US 5 141359789 141359789 single base substitution G A synonymous_variant P186P 558G>A BRCA-US 5 141359789 141359789 single base substitution G A synonymous_variant P312P 936G>A BRCA-US 5 141362978 141362978 deletion of <=200bp A - 3_prime_UTR_variant BRCA-US 5 141362978 141362978 deletion of <=200bp A - downstream_gene_variant BRCA-US 5 141362978 141362978 deletion of <=200bp A - frameshift_variant Q190 BRCA-US 5 141362978 141362978 deletion of <=200bp A - frameshift_variant Q240 BRCA-US 5 141362978 141362978 deletion of <=200bp A - frameshift_variant Q366 BRCA-US 5 141362978 141362978 deletion of <=200bp A - frameshift_variant Q63 BRCA-US 5 141363073 141363073 single base substitution G A 3_prime_UTR_variant BRCA-US 5 141363073 141363073 single base substitution G A downstream_gene_variant BRCA-US 5 141363073 141363073 single base substitution G A missense_variant E222K 664G>A BRCA-US 5 141363073 141363073 single base substitution G A missense_variant E272K 814G>A BRCA-US 5 141363073 141363073 single base substitution G A missense_variant E398K 1192G>A BRCA-US 5 141363073 141363073 single base substitution G A missense_variant E95K 283G>A BTCA-JP 5 141335836 141335836 single base substitution C T upstream_gene_variant BTCA-JP 5 141337345 141337345 single base substitution A T upstream_gene_variant BTCA-JP 5 141359990 141359990 single base substitution A G downstream_gene_variant BTCA-JP 5 141359990 141359990 single base substitution A G intron_variant BTCA-JP 5 141364526 141364526 single base substitution C T downstream_gene_variant BTCA-JP 5 141364526 141364526 single base substitution C T intron_variant CESC-US 5 141334932 141334932 single base substitution G C upstream_gene_variant CESC-US 5 141335086 141335086 single base substitution G A upstream_gene_variant CESC-US 5 141336211 141336211 single base substitution C T upstream_gene_variant CESC-US 5 141336489 141336489 single base substitution G A upstream_gene_variant CESC-US 5 141337076 141337076 single base substitution C T upstream_gene_variant CESC-US 5 141359694 141359694 single base substitution G C downstream_gene_variant CESC-US 5 141359694 141359694 single base substitution G C exon_variant CESC-US 5 141359694 141359694 single base substitution G C intron_variant CESC-US 5 141359694 141359694 single base substitution G C missense_variant E105Q 313G>C CESC-US 5 141359694 141359694 single base substitution G C missense_variant E155Q 463G>C CESC-US 5 141359694 141359694 single base substitution G C missense_variant E281Q 841G>C CESC-US 5 141363115 141363115 single base substitution G C 3_prime_UTR_variant CESC-US 5 141363115 141363115 single base substitution G C downstream_gene_variant CESC-US 5 141363115 141363115 single base substitution G C missense_variant E109Q 325G>C CESC-US 5 141363115 141363115 single base substitution G C missense_variant E236Q 706G>C CESC-US 5 141363115 141363115 single base substitution G C missense_variant E286Q 856G>C CESC-US 5 141363115 141363115 single base substitution G C missense_variant E412Q 1234G>C COAD-US 5 141334794 141334794 single base substitution G A upstream_gene_variant COAD-US 5 141335044 141335044 single base substitution G A upstream_gene_variant COAD-US 5 141335365 141335365 deletion of <=200bp G - upstream_gene_variant COAD-US 5 141335661 141335661 single base substitution C A upstream_gene_variant COAD-US 5 141336245 141336245 single base substitution C T upstream_gene_variant COAD-US 5 141336302 141336302 single base substitution A C upstream_gene_variant COAD-US 5 141336358 141336358 single base substitution G A upstream_gene_variant COAD-US 5 141336497 141336497 single base substitution C T upstream_gene_variant COAD-US 5 141336498 141336498 single base substitution G T upstream_gene_variant COAD-US 5 141336747 141336747 insertion of <=200bp - G upstream_gene_variant COAD-US 5 141357922 141357922 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COAD-US 5 141357922 141357922 single base substitution G A downstream_gene_variant COAD-US 5 141357922 141357922 single base substitution G A exon_variant COAD-US 5 141357922 141357922 single base substitution G A intron_variant COAD-US 5 141357922 141357922 single base substitution G A missense_variant V121M 361G>A COAD-US 5 141358149 141358149 single base substitution T C downstream_gene_variant COAD-US 5 141358149 141358149 single base substitution T C exon_variant COAD-US 5 141358149 141358149 single base substitution T C intron_variant COAD-US 5 141358149 141358149 single base substitution T C synonymous_variant N196N 588T>C COAD-US 5 141358149 141358149 single base substitution T C synonymous_variant N70N 210T>C COAD-US 5 141358278 141358278 single base substitution G A downstream_gene_variant COAD-US 5 141358278 141358278 single base substitution G A exon_variant COAD-US 5 141358278 141358278 single base substitution G A intron_variant COAD-US 5 141358278 141358278 single base substitution G A synonymous_variant R113R 339G>A COAD-US 5 141358278 141358278 single base substitution G A synonymous_variant R239R 717G>A COCA-CN 5 141335501 141335501 single base substitution C T upstream_gene_variant COCA-CN 5 141336009 141336009 single base substitution G A upstream_gene_variant COCA-CN 5 141336634 141336634 single base substitution C T upstream_gene_variant COCA-CN 5 141336694 141336694 single base substitution G T upstream_gene_variant COCA-CN 5 141336987 141336987 single base substitution T C upstream_gene_variant COCA-CN 5 141351140 141351140 single base substitution C T intron_variant COCA-CN 5 141351148 141351148 single base substitution C T intron_variant COCA-CN 5 141354380 141354380 single base substitution G T downstream_gene_variant COCA-CN 5 141354380 141354380 single base substitution G T intron_variant COCA-CN 5 141354380 141354380 single base substitution G T stop_gained E56* 166G>T COCA-CN 5 141354600 141354600 single base substitution C A downstream_gene_variant COCA-CN 5 141354600 141354600 single base substitution C A intron_variant COCA-CN 5 141357723 141357723 single base substitution A T downstream_gene_variant COCA-CN 5 141357723 141357723 single base substitution A T intron_variant COCA-CN 5 141367326 141367326 single base substitution G A downstream_gene_variant COCA-CN 5 141367326 141367326 single base substitution G A missense_variant D163N 487G>A COCA-CN 5 141367326 141367326 single base substitution G A missense_variant D290N 868G>A COCA-CN 5 141367326 141367326 single base substitution G A missense_variant D340N 1018G>A COCA-CN 5 141367326 141367326 single base substitution G A missense_variant D466N 1396G>A COCA-CN 5 141371870 141371870 single base substitution A C downstream_gene_variant COCA-CN 5 141373464 141373464 single base substitution A G downstream_gene_variant EOPC-DE 5 141350013 141350013 single base substitution A G intron_variant ESAD-UK 5 141333441 141333441 single base substitution C G upstream_gene_variant ESAD-UK 5 141333628 141333628 single base substitution A G upstream_gene_variant ESAD-UK 5 141333838 141333838 single base substitution C G upstream_gene_variant ESAD-UK 5 141334943 141334943 single base substitution G A upstream_gene_variant ESAD-UK 5 141334994 141334994 single base substitution C A upstream_gene_variant ESAD-UK 5 141335314 141335314 single base substitution G A upstream_gene_variant ESAD-UK 5 141336655 141336655 single base substitution T G upstream_gene_variant ESAD-UK 5 141336930 141336930 single base substitution C A upstream_gene_variant ESAD-UK 5 141341532 141341532 single base substitution C T intron_variant ESAD-UK 5 141341532 141341532 single base substitution C T upstream_gene_variant ESAD-UK 5 141341919 141341919 single base substitution C T intron_variant ESAD-UK 5 141341919 141341919 single base substitution C T upstream_gene_variant ESAD-UK 5 141343134 141343134 single base substitution G A intron_variant ESAD-UK 5 141343134 141343134 single base substitution G A upstream_gene_variant ESAD-UK 5 141343253 141343253 single base substitution T G intron_variant ESAD-UK 5 141343253 141343253 single base substitution T G upstream_gene_variant ESAD-UK 5 141344510 141344510 single base substitution T A intron_variant ESAD-UK 5 141344510 141344510 single base substitution T A upstream_gene_variant ESAD-UK 5 141344978 141344978 single base substitution C T intron_variant ESAD-UK 5 141344978 141344978 single base substitution C T upstream_gene_variant ESAD-UK 5 141345462 141345462 single base substitution G A intron_variant ESAD-UK 5 141345462 141345462 single base substitution G A upstream_gene_variant ESAD-UK 5 141345845 141345845 single base substitution C T intron_variant ESAD-UK 5 141345845 141345845 single base substitution C T upstream_gene_variant ESAD-UK 5 141346753 141346753 single base substitution T C intron_variant ESAD-UK 5 141346753 141346753 single base substitution T C upstream_gene_variant ESAD-UK 5 141349466 141349471 deletion of <=200bp ATGTTT - intron_variant ESAD-UK 5 141349945 141349945 insertion of <=200bp - A intron_variant ESAD-UK 5 141350819 141350819 insertion of <=200bp - T intron_variant ESAD-UK 5 141351394 141351394 single base substitution G T intron_variant ESAD-UK 5 141352446 141352446 single base substitution G A intron_variant ESAD-UK 5 141353271 141353291 deletion of <=200bp TTGGATTTGCCACAGAATTTC - 5_prime_UTR_variant ESAD-UK 5 141353271 141353291 deletion of <=200bp TTGGATTTGCCACAGAATTTC - downstream_gene_variant ESAD-UK 5 141353271 141353291 deletion of <=200bp TTGGATTTGCCACAGAATTTC - exon_variant ESAD-UK 5 141353271 141353291 deletion of <=200bp TTGGATTTGCCACAGAATTTC - inframe_deletion LDLPQNF40 ESAD-UK 5 141354544 141354544 single base substitution C T downstream_gene_variant ESAD-UK 5 141354544 141354544 single base substitution C T intron_variant ESAD-UK 5 141356709 141356709 single base substitution T A downstream_gene_variant ESAD-UK 5 141356709 141356709 single base substitution T A intron_variant ESAD-UK 5 141359114 141359114 single base substitution G T downstream_gene_variant ESAD-UK 5 141359114 141359114 single base substitution G T intron_variant ESAD-UK 5 141360663 141360663 single base substitution A G downstream_gene_variant ESAD-UK 5 141360663 141360663 single base substitution A G intron_variant ESAD-UK 5 141363718 141363718 single base substitution G A downstream_gene_variant ESAD-UK 5 141363718 141363718 single base substitution G A intron_variant ESAD-UK 5 141370769 141370769 deletion of <=200bp T - downstream_gene_variant ESAD-UK 5 141371739 141371739 deletion of <=200bp T - downstream_gene_variant ESAD-UK 5 141374816 141374816 single base substitution T G downstream_gene_variant ESCA-CN 5 141335013 141335013 single base substitution C T upstream_gene_variant ESCA-CN 5 141336633 141336633 single base substitution G C upstream_gene_variant ESCA-CN 5 141336639 141336639 single base substitution C A upstream_gene_variant GBM-US 5 141336339 141336339 single base substitution G C upstream_gene_variant KIRC-US 5 141337114 141337114 single base substitution C A upstream_gene_variant KIRC-US 5 141354483 141354483 single base substitution C T downstream_gene_variant KIRC-US 5 141354483 141354483 single base substitution C T intron_variant KIRC-US 5 141354483 141354483 single base substitution C T missense_variant S90L 269C>T KIRP-US 5 141334867 141334867 insertion of <=200bp - A upstream_gene_variant KIRP-US 5 141336615 141336615 single base substitution C T upstream_gene_variant KIRP-US 5 141357939 141357939 single base substitution G T 5_prime_UTR_variant KIRP-US 5 141357939 141357939 single base substitution G T downstream_gene_variant KIRP-US 5 141357939 141357939 single base substitution G T exon_variant KIRP-US 5 141357939 141357939 single base substitution G T intron_variant KIRP-US 5 141357939 141357939 single base substitution G T missense_variant W126C 378G>T LAML-KR 5 141353424 141353424 single base substitution T C downstream_gene_variant LAML-KR 5 141353424 141353424 single base substitution T C intron_variant LGG-US 5 141335138 141335138 single base substitution C T upstream_gene_variant LGG-US 5 141335542 141335542 single base substitution A T upstream_gene_variant LGG-US 5 141353304 141353304 single base substitution A G 5_prime_UTR_variant LGG-US 5 141353304 141353304 single base substitution A G downstream_gene_variant LGG-US 5 141353304 141353304 single base substitution A G exon_variant LGG-US 5 141353304 141353304 single base substitution A G missense_variant S51G 151A>G LICA-CN 5 141336753 141336753 single base substitution G T upstream_gene_variant LICA-CN 5 141337141 141337141 single base substitution C T upstream_gene_variant LICA-CN 5 141359852 141359852 single base substitution T C 3_prime_UTR_variant LICA-CN 5 141359852 141359852 single base substitution T C downstream_gene_variant LICA-CN 5 141359852 141359852 single base substitution T C intron_variant LICA-CN 5 141359852 141359852 single base substitution T C synonymous_variant N157N 471T>C LICA-CN 5 141359852 141359852 single base substitution T C synonymous_variant N207N 621T>C LICA-CN 5 141359852 141359852 single base substitution T C synonymous_variant N333N 999T>C LICA-FR 5 141355506 141355506 single base substitution G A downstream_gene_variant LICA-FR 5 141355506 141355506 single base substitution G A intron_variant LIHC-US 5 141335557 141335557 single base substitution G A upstream_gene_variant LIHC-US 5 141336991 141336991 single base substitution C A upstream_gene_variant LIHC-US 5 141337154 141337154 single base substitution G C upstream_gene_variant LIHC-US 5 141358344 141358344 single base substitution A G downstream_gene_variant LIHC-US 5 141358344 141358344 single base substitution A G intron_variant LIHC-US 5 141358344 141358344 single base substitution A G synonymous_variant Q135Q 405A>G LIHC-US 5 141358344 141358344 single base substitution A G synonymous_variant Q261Q 783A>G LINC-JP 5 141335040 141335040 single base substitution G A upstream_gene_variant LINC-JP 5 141335367 141335367 single base substitution G C upstream_gene_variant LINC-JP 5 141335752 141335752 single base substitution G T upstream_gene_variant LINC-JP 5 141336010 141336010 single base substitution C T upstream_gene_variant LINC-JP 5 141336847 141336847 single base substitution C A upstream_gene_variant LINC-JP 5 141346963 141346963 single base substitution G A intron_variant LINC-JP 5 141346963 141346963 single base substitution G A upstream_gene_variant LINC-JP 5 141349797 141349797 single base substitution T A intron_variant LINC-JP 5 141357194 141357194 single base substitution A G downstream_gene_variant LINC-JP 5 141357194 141357194 single base substitution A G intron_variant LINC-JP 5 141371573 141371573 single base substitution T G downstream_gene_variant LINC-JP 5 141373146 141373146 single base substitution A G downstream_gene_variant LIRI-JP 5 141334461 141334461 single base substitution A T upstream_gene_variant LIRI-JP 5 141335271 141335271 single base substitution T G upstream_gene_variant LIRI-JP 5 141337316 141337316 single base substitution T C upstream_gene_variant LIRI-JP 5 141337635 141337635 single base substitution A G upstream_gene_variant LIRI-JP 5 141338097 141338097 single base substitution A G intron_variant LIRI-JP 5 141342637 141342637 single base substitution T C intron_variant LIRI-JP 5 141342637 141342637 single base substitution T C upstream_gene_variant LIRI-JP 5 141343018 141343018 single base substitution A G intron_variant LIRI-JP 5 141343018 141343018 single base substitution A G upstream_gene_variant LIRI-JP 5 141346606 141346606 single base substitution T G intron_variant LIRI-JP 5 141346606 141346606 single base substitution T G upstream_gene_variant LIRI-JP 5 141347102 141347102 single base substitution A C intron_variant LIRI-JP 5 141347102 141347102 single base substitution A C upstream_gene_variant LIRI-JP 5 141347544 141347544 single base substitution C T intron_variant LIRI-JP 5 141347544 141347544 single base substitution C T upstream_gene_variant LIRI-JP 5 141347611 141347611 single base substitution T C intron_variant LIRI-JP 5 141347611 141347611 single base substitution T C upstream_gene_variant LIRI-JP 5 141348267 141348267 single base substitution T C intron_variant LIRI-JP 5 141348267 141348267 single base substitution T C upstream_gene_variant LIRI-JP 5 141349501 141349501 single base substitution A G intron_variant LIRI-JP 5 141349661 141349661 single base substitution A G intron_variant LIRI-JP 5 141351372 141351372 single base substitution C G intron_variant LIRI-JP 5 141356136 141356136 single base substitution A G downstream_gene_variant LIRI-JP 5 141356136 141356136 single base substitution A G intron_variant LIRI-JP 5 141356666 141356666 single base substitution C G downstream_gene_variant LIRI-JP 5 141356666 141356666 single base substitution C G intron_variant LIRI-JP 5 141357268 141357268 single base substitution A G downstream_gene_variant LIRI-JP 5 141357268 141357268 single base substitution A G intron_variant LIRI-JP 5 141359195 141359195 single base substitution G T downstream_gene_variant LIRI-JP 5 141359195 141359195 single base substitution G T intron_variant LIRI-JP 5 141364452 141364452 single base substitution A T downstream_gene_variant LIRI-JP 5 141364452 141364452 single base substitution A T missense_variant N138Y 412A>T LIRI-JP 5 141364452 141364452 single base substitution A T missense_variant N265Y 793A>T LIRI-JP 5 141364452 141364452 single base substitution A T missense_variant N315Y 943A>T LIRI-JP 5 141364452 141364452 single base substitution A T missense_variant N441Y 1321A>T LIRI-JP 5 141366675 141366675 single base substitution G A downstream_gene_variant LIRI-JP 5 141366675 141366675 single base substitution G A intron_variant LIRI-JP 5 141369823 141369823 single base substitution A G 3_prime_UTR_variant LIRI-JP 5 141369823 141369823 single base substitution A G downstream_gene_variant LIRI-JP 5 141370437 141370437 single base substitution G A downstream_gene_variant LIRI-JP 5 141370793 141370793 single base substitution A G downstream_gene_variant LUSC-KR 5 141334546 141334546 single base substitution A T upstream_gene_variant LUSC-KR 5 141334921 141334921 single base substitution C T upstream_gene_variant LUSC-KR 5 141336615 141336615 single base substitution C T upstream_gene_variant LUSC-KR 5 141341781 141341781 single base substitution G T intron_variant LUSC-KR 5 141341781 141341781 single base substitution G T upstream_gene_variant LUSC-KR 5 141344687 141344687 single base substitution G T intron_variant LUSC-KR 5 141344687 141344687 single base substitution G T upstream_gene_variant LUSC-KR 5 141347750 141347750 single base substitution A G intron_variant LUSC-KR 5 141347750 141347750 single base substitution A G upstream_gene_variant LUSC-KR 5 141350339 141350339 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 5 141350339 141350339 single base substitution C G exon_variant LUSC-KR 5 141350339 141350339 single base substitution C G intron_variant LUSC-KR 5 141359231 141359231 single base substitution G T downstream_gene_variant LUSC-KR 5 141359231 141359231 single base substitution G T intron_variant LUSC-KR 5 141370343 141370343 single base substitution G C downstream_gene_variant LUSC-KR 5 141372589 141372589 single base substitution G A downstream_gene_variant LUSC-US 5 141334818 141334818 single base substitution C T upstream_gene_variant LUSC-US 5 141335730 141335730 single base substitution G T upstream_gene_variant LUSC-US 5 141335809 141335809 single base substitution G A upstream_gene_variant LUSC-US 5 141337102 141337102 single base substitution C A upstream_gene_variant MALY-DE 5 141334472 141334472 single base substitution G A upstream_gene_variant MALY-DE 5 141334655 141334655 single base substitution G A upstream_gene_variant MALY-DE 5 141340771 141340772 deletion of <=200bp GT - intron_variant MALY-DE 5 141340900 141340900 single base substitution C T intron_variant MALY-DE 5 141342584 141342584 single base substitution A C intron_variant MALY-DE 5 141342584 141342584 single base substitution A C upstream_gene_variant MALY-DE 5 141344871 141344871 single base substitution G A intron_variant MALY-DE 5 141344871 141344871 single base substitution G A upstream_gene_variant MALY-DE 5 141350016 141350016 single base substitution A T intron_variant MELA-AU 5 141333191 141333191 single base substitution C T upstream_gene_variant MELA-AU 5 141333205 141333205 single base substitution C T upstream_gene_variant MELA-AU 5 141333358 141333358 single base substitution G A upstream_gene_variant MELA-AU 5 141333797 141333797 single base substitution C T upstream_gene_variant MELA-AU 5 141334473 141334473 single base substitution T A upstream_gene_variant MELA-AU 5 141334522 141334522 single base substitution C T upstream_gene_variant MELA-AU 5 141334990 141334990 single base substitution G A upstream_gene_variant MELA-AU 5 141334994 141334994 single base substitution C A upstream_gene_variant MELA-AU 5 141335195 141335195 single base substitution C A upstream_gene_variant MELA-AU 5 141335307 141335307 single base substitution C T upstream_gene_variant MELA-AU 5 141335375 141335375 single base substitution C T upstream_gene_variant MELA-AU 5 141335699 141335699 single base substitution C T upstream_gene_variant MELA-AU 5 141336007 141336007 single base substitution C T upstream_gene_variant MELA-AU 5 141336588 141336588 single base substitution C T upstream_gene_variant MELA-AU 5 141337047 141337047 single base substitution G A upstream_gene_variant MELA-AU 5 141337902 141337903 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 5 141338394 141338394 single base substitution G A intron_variant MELA-AU 5 141338520 141338520 single base substitution C T intron_variant MELA-AU 5 141338786 141338786 single base substitution C T intron_variant MELA-AU 5 141338802 141338802 single base substitution C T intron_variant MELA-AU 5 141338919 141338919 single base substitution C T intron_variant MELA-AU 5 141338926 141338926 single base substitution G A intron_variant MELA-AU 5 141339018 141339018 single base substitution C T intron_variant MELA-AU 5 141339096 141339096 single base substitution C T intron_variant MELA-AU 5 141339120 141339120 single base substitution C G intron_variant MELA-AU 5 141339291 141339291 single base substitution C T intron_variant MELA-AU 5 141339719 141339719 single base substitution G A intron_variant MELA-AU 5 141339913 141339913 single base substitution G A intron_variant MELA-AU 5 141340531 141340531 single base substitution G A intron_variant MELA-AU 5 141341494 141341494 single base substitution C T intron_variant MELA-AU 5 141341494 141341494 single base substitution C T upstream_gene_variant MELA-AU 5 141341762 141341762 single base substitution G A intron_variant MELA-AU 5 141341762 141341762 single base substitution G A upstream_gene_variant MELA-AU 5 141341979 141341979 single base substitution C T intron_variant MELA-AU 5 141341979 141341979 single base substitution C T upstream_gene_variant MELA-AU 5 141342368 141342368 single base substitution G A intron_variant MELA-AU 5 141342368 141342368 single base substitution G A upstream_gene_variant MELA-AU 5 141342410 141342410 single base substitution G A intron_variant MELA-AU 5 141342410 141342410 single base substitution G A upstream_gene_variant MELA-AU 5 141343134 141343134 single base substitution G A intron_variant MELA-AU 5 141343134 141343134 single base substitution G A upstream_gene_variant MELA-AU 5 141343341 141343341 single base substitution G A intron_variant MELA-AU 5 141343341 141343341 single base substitution G A upstream_gene_variant MELA-AU 5 141343568 141343568 single base substitution C T intron_variant MELA-AU 5 141343568 141343568 single base substitution C T upstream_gene_variant MELA-AU 5 141343828 141343828 single base substitution C T intron_variant MELA-AU 5 141343828 141343828 single base substitution C T upstream_gene_variant MELA-AU 5 141343944 141343944 single base substitution C T intron_variant MELA-AU 5 141343944 141343944 single base substitution C T upstream_gene_variant MELA-AU 5 141344694 141344694 single base substitution C T intron_variant MELA-AU 5 141344694 141344694 single base substitution C T upstream_gene_variant MELA-AU 5 141344846 141344847 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 141344846 141344847 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 141344883 141344883 single base substitution G A intron_variant MELA-AU 5 141344883 141344883 single base substitution G A upstream_gene_variant MELA-AU 5 141345630 141345630 single base substitution G T intron_variant MELA-AU 5 141345630 141345630 single base substitution G T upstream_gene_variant MELA-AU 5 141346505 141346505 single base substitution C T intron_variant MELA-AU 5 141346505 141346505 single base substitution C T upstream_gene_variant MELA-AU 5 141347115 141347115 single base substitution C T intron_variant MELA-AU 5 141347115 141347115 single base substitution C T upstream_gene_variant MELA-AU 5 141347192 141347192 single base substitution A T intron_variant MELA-AU 5 141347192 141347192 single base substitution A T upstream_gene_variant MELA-AU 5 141347328 141347329 multiple base substitution (>=2bp and <=200bp) GA AC intron_variant MELA-AU 5 141347328 141347329 multiple base substitution (>=2bp and <=200bp) GA AC upstream_gene_variant MELA-AU 5 141347761 141347761 single base substitution C T intron_variant MELA-AU 5 141347761 141347761 single base substitution C T upstream_gene_variant MELA-AU 5 141347819 141347819 single base substitution C T intron_variant MELA-AU 5 141347819 141347819 single base substitution C T upstream_gene_variant MELA-AU 5 141348409 141348409 single base substitution C T intron_variant MELA-AU 5 141348409 141348409 single base substitution C T upstream_gene_variant MELA-AU 5 141348629 141348629 single base substitution G T 5_prime_UTR_variant MELA-AU 5 141348629 141348629 single base substitution G T intron_variant MELA-AU 5 141348629 141348629 single base substitution G T upstream_gene_variant MELA-AU 5 141351681 141351681 single base substitution T C intron_variant MELA-AU 5 141352237 141352237 single base substitution C T intron_variant MELA-AU 5 141352265 141352265 single base substitution C T intron_variant MELA-AU 5 141352591 141352591 single base substitution C T intron_variant MELA-AU 5 141353253 141353253 single base substitution G A 5_prime_UTR_variant MELA-AU 5 141353253 141353253 single base substitution G A downstream_gene_variant MELA-AU 5 141353253 141353253 single base substitution G A exon_variant MELA-AU 5 141353253 141353253 single base substitution G A missense_variant G34R 100G>A MELA-AU 5 141354544 141354544 single base substitution C T downstream_gene_variant MELA-AU 5 141354544 141354544 single base substitution C T intron_variant MELA-AU 5 141354651 141354651 single base substitution C T downstream_gene_variant MELA-AU 5 141354651 141354651 single base substitution C T intron_variant MELA-AU 5 141355842 141355842 single base substitution G A downstream_gene_variant MELA-AU 5 141355842 141355842 single base substitution G A intron_variant MELA-AU 5 141355849 141355849 single base substitution T C downstream_gene_variant MELA-AU 5 141355849 141355849 single base substitution T C intron_variant MELA-AU 5 141356668 141356668 single base substitution C T downstream_gene_variant MELA-AU 5 141356668 141356668 single base substitution C T intron_variant MELA-AU 5 141357033 141357033 single base substitution T C downstream_gene_variant MELA-AU 5 141357033 141357033 single base substitution T C intron_variant MELA-AU 5 141357086 141357086 single base substitution C T downstream_gene_variant MELA-AU 5 141357086 141357086 single base substitution C T intron_variant MELA-AU 5 141357796 141357796 single base substitution C T downstream_gene_variant MELA-AU 5 141357796 141357796 single base substitution C T intron_variant MELA-AU 5 141357831 141357831 single base substitution T A downstream_gene_variant MELA-AU 5 141357831 141357831 single base substitution T A intron_variant MELA-AU 5 141358425 141358425 single base substitution C T downstream_gene_variant MELA-AU 5 141358425 141358425 single base substitution C T intron_variant MELA-AU 5 141358801 141358801 single base substitution T G downstream_gene_variant MELA-AU 5 141358801 141358801 single base substitution T G intron_variant MELA-AU 5 141359381 141359381 single base substitution G A downstream_gene_variant MELA-AU 5 141359381 141359381 single base substitution G A intron_variant MELA-AU 5 141360126 141360126 single base substitution G A downstream_gene_variant MELA-AU 5 141360126 141360126 single base substitution G A intron_variant MELA-AU 5 141360487 141360487 single base substitution G A downstream_gene_variant MELA-AU 5 141360487 141360487 single base substitution G A intron_variant MELA-AU 5 141362346 141362346 single base substitution C T downstream_gene_variant MELA-AU 5 141362346 141362346 single base substitution C T intron_variant MELA-AU 5 141362921 141362921 single base substitution T C downstream_gene_variant MELA-AU 5 141362921 141362921 single base substitution T C intron_variant MELA-AU 5 141362929 141362929 single base substitution C T downstream_gene_variant MELA-AU 5 141362929 141362929 single base substitution C T intron_variant MELA-AU 5 141362935 141362935 single base substitution C T downstream_gene_variant MELA-AU 5 141362935 141362935 single base substitution C T intron_variant MELA-AU 5 141363753 141363753 single base substitution C T downstream_gene_variant MELA-AU 5 141363753 141363753 single base substitution C T intron_variant MELA-AU 5 141365365 141365365 single base substitution G C downstream_gene_variant MELA-AU 5 141365365 141365365 single base substitution G C intron_variant MELA-AU 5 141365586 141365586 single base substitution G A downstream_gene_variant MELA-AU 5 141365586 141365586 single base substitution G A intron_variant MELA-AU 5 141366062 141366062 single base substitution T C downstream_gene_variant MELA-AU 5 141366062 141366062 single base substitution T C intron_variant MELA-AU 5 141366546 141366546 single base substitution C T downstream_gene_variant MELA-AU 5 141366546 141366546 single base substitution C T intron_variant MELA-AU 5 141366699 141366699 single base substitution T C downstream_gene_variant MELA-AU 5 141366699 141366699 single base substitution T C intron_variant MELA-AU 5 141366893 141366893 single base substitution C T downstream_gene_variant MELA-AU 5 141366893 141366893 single base substitution C T intron_variant MELA-AU 5 141367340 141367340 single base substitution T A downstream_gene_variant MELA-AU 5 141367340 141367340 single base substitution T A missense_variant D167E 501T>A MELA-AU 5 141367340 141367340 single base substitution T A missense_variant D294E 882T>A MELA-AU 5 141367340 141367340 single base substitution T A missense_variant D344E 1032T>A MELA-AU 5 141367340 141367340 single base substitution T A missense_variant D470E 1410T>A MELA-AU 5 141368145 141368145 single base substitution C T 3_prime_UTR_variant MELA-AU 5 141368145 141368145 single base substitution C T downstream_gene_variant MELA-AU 5 141368233 141368233 single base substitution C G 3_prime_UTR_variant MELA-AU 5 141368233 141368233 single base substitution C G downstream_gene_variant MELA-AU 5 141368512 141368512 single base substitution C T 3_prime_UTR_variant MELA-AU 5 141368512 141368512 single base substitution C T downstream_gene_variant MELA-AU 5 141368518 141368518 single base substitution C T 3_prime_UTR_variant MELA-AU 5 141368518 141368518 single base substitution C T downstream_gene_variant MELA-AU 5 141368739 141368739 single base substitution C T 3_prime_UTR_variant MELA-AU 5 141368739 141368739 single base substitution C T downstream_gene_variant MELA-AU 5 141370355 141370355 single base substitution C T downstream_gene_variant MELA-AU 5 141370447 141370447 single base substitution C T downstream_gene_variant MELA-AU 5 141370728 141370728 single base substitution C T downstream_gene_variant MELA-AU 5 141370983 141370983 single base substitution C T downstream_gene_variant MELA-AU 5 141371293 141371293 single base substitution C T downstream_gene_variant MELA-AU 5 141371436 141371436 single base substitution C T downstream_gene_variant MELA-AU 5 141372320 141372320 single base substitution A T downstream_gene_variant MELA-AU 5 141372472 141372473 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 141372561 141372561 single base substitution C T downstream_gene_variant MELA-AU 5 141372817 141372817 single base substitution C T downstream_gene_variant MELA-AU 5 141373095 141373095 single base substitution G A downstream_gene_variant MELA-AU 5 141373460 141373460 single base substitution A G downstream_gene_variant MELA-AU 5 141374170 141374170 single base substitution G A downstream_gene_variant ORCA-IN 5 141353600 141353600 single base substitution G C downstream_gene_variant ORCA-IN 5 141353600 141353600 single base substitution G C intron_variant ORCA-IN 5 141355489 141355489 deletion of <=200bp C - downstream_gene_variant ORCA-IN 5 141355489 141355489 deletion of <=200bp C - intron_variant ORCA-IN 5 141374223 141374223 single base substitution C T downstream_gene_variant OV-AU 5 141333472 141333472 single base substitution G T upstream_gene_variant OV-AU 5 141337506 141337506 single base substitution G A upstream_gene_variant OV-AU 5 141337630 141337630 single base substitution G A upstream_gene_variant OV-AU 5 141345870 141345870 single base substitution C A intron_variant OV-AU 5 141345870 141345870 single base substitution C A upstream_gene_variant OV-AU 5 141348710 141348710 single base substitution C T 5_prime_UTR_variant OV-AU 5 141348710 141348710 single base substitution C T exon_variant OV-AU 5 141348710 141348710 single base substitution C T intron_variant OV-AU 5 141348710 141348710 single base substitution C T upstream_gene_variant OV-AU 5 141351479 141351479 single base substitution C T intron_variant OV-AU 5 141360611 141360611 single base substitution G A downstream_gene_variant OV-AU 5 141360611 141360611 single base substitution G A intron_variant OV-AU 5 141371704 141371704 single base substitution C A downstream_gene_variant OV-AU 5 141373458 141373458 single base substitution G A downstream_gene_variant PACA-AU 5 141334004 141334004 single base substitution G A upstream_gene_variant PACA-AU 5 141336651 141336651 single base substitution C G upstream_gene_variant PACA-AU 5 141336848 141336848 single base substitution T C upstream_gene_variant PACA-AU 5 141338696 141338696 single base substitution G A intron_variant PACA-AU 5 141339095 141339095 single base substitution C A intron_variant PACA-AU 5 141342741 141342741 single base substitution G T intron_variant PACA-AU 5 141342741 141342741 single base substitution G T upstream_gene_variant PACA-AU 5 141344512 141344512 single base substitution A T intron_variant PACA-AU 5 141344512 141344512 single base substitution A T upstream_gene_variant PACA-AU 5 141345681 141345681 single base substitution A G intron_variant PACA-AU 5 141345681 141345681 single base substitution A G upstream_gene_variant PACA-AU 5 141350084 141350084 single base substitution T C intron_variant PACA-AU 5 141355543 141355543 single base substitution G T downstream_gene_variant PACA-AU 5 141355543 141355543 single base substitution G T intron_variant PACA-AU 5 141361498 141361498 single base substitution A T downstream_gene_variant PACA-AU 5 141361498 141361498 single base substitution A T intron_variant PACA-AU 5 141363296 141363296 single base substitution A G downstream_gene_variant PACA-AU 5 141363296 141363296 single base substitution A G intron_variant PACA-AU 5 141370976 141370976 single base substitution A G downstream_gene_variant PACA-CA 5 141333021 141333021 single base substitution G T upstream_gene_variant PACA-CA 5 141335204 141335204 single base substitution G A upstream_gene_variant PACA-CA 5 141335501 141335501 single base substitution C T upstream_gene_variant PACA-CA 5 141337145 141337145 single base substitution C T upstream_gene_variant PACA-CA 5 141347031 141347031 single base substitution G A intron_variant PACA-CA 5 141347031 141347031 single base substitution G A upstream_gene_variant PACA-CA 5 141347278 141347278 single base substitution C A intron_variant PACA-CA 5 141347278 141347278 single base substitution C A upstream_gene_variant PACA-CA 5 141347948 141347948 single base substitution G A intron_variant PACA-CA 5 141347948 141347948 single base substitution G A upstream_gene_variant PACA-CA 5 141348808 141348808 single base substitution G T intron_variant PACA-CA 5 141348808 141348808 single base substitution G T upstream_gene_variant PACA-CA 5 141350243 141350255 deletion of <=200bp CCATCTTTTGTAT - intron_variant PACA-CA 5 141350485 141350485 single base substitution T C intron_variant PACA-CA 5 141352166 141352166 insertion of <=200bp - T intron_variant PACA-CA 5 141352403 141352403 single base substitution G A intron_variant PACA-CA 5 141359336 141359336 single base substitution G C downstream_gene_variant PACA-CA 5 141359336 141359336 single base substitution G C intron_variant PACA-CA 5 141363803 141363803 single base substitution C T downstream_gene_variant PACA-CA 5 141363803 141363803 single base substitution C T intron_variant PACA-CA 5 141364725 141364725 single base substitution T A downstream_gene_variant PACA-CA 5 141364725 141364725 single base substitution T A intron_variant PAEN-AU 5 141341612 141341612 single base substitution C A intron_variant PAEN-AU 5 141341612 141341612 single base substitution C A upstream_gene_variant PAEN-AU 5 141353731 141353731 single base substitution C T downstream_gene_variant PAEN-AU 5 141353731 141353731 single base substitution C T intron_variant PAEN-IT 5 141342351 141342351 single base substitution G T intron_variant PAEN-IT 5 141342351 141342351 single base substitution G T upstream_gene_variant PAEN-IT 5 141357178 141357178 single base substitution T C downstream_gene_variant PAEN-IT 5 141357178 141357178 single base substitution T C intron_variant PAEN-IT 5 141371793 141371793 single base substitution C A downstream_gene_variant PBCA-DE 5 141339990 141339990 single base substitution G A intron_variant PBCA-DE 5 141351673 141351673 deletion of <=200bp T - intron_variant PBCA-DE 5 141353145 141353147 deletion of <=200bp CAG - splice_acceptor_variant PBCA-DE 5 141359097 141359097 single base substitution G A downstream_gene_variant PBCA-DE 5 141359097 141359097 single base substitution G A intron_variant PBCA-DE 5 141373515 141373515 single base substitution G A downstream_gene_variant PRAD-CA 5 141342604 141342604 single base substitution C T intron_variant PRAD-CA 5 141342604 141342604 single base substitution C T upstream_gene_variant PRAD-CA 5 141355005 141355005 single base substitution A T downstream_gene_variant PRAD-CA 5 141355005 141355005 single base substitution A T intron_variant PRAD-UK 5 141339833 141339833 single base substitution G A intron_variant PRAD-UK 5 141343305 141343305 single base substitution T C intron_variant PRAD-UK 5 141343305 141343305 single base substitution T C upstream_gene_variant PRAD-UK 5 141349368 141349368 single base substitution A T intron_variant PRAD-UK 5 141351057 141351057 single base substitution C T intron_variant PRAD-US 5 141336228 141336228 single base substitution G C upstream_gene_variant READ-US 5 141336402 141336402 single base substitution G T upstream_gene_variant READ-US 5 141359786 141359786 single base substitution G A 3_prime_UTR_variant READ-US 5 141359786 141359786 single base substitution G A downstream_gene_variant READ-US 5 141359786 141359786 single base substitution G A exon_variant READ-US 5 141359786 141359786 single base substitution G A intron_variant READ-US 5 141359786 141359786 single base substitution G A synonymous_variant R135R 405G>A READ-US 5 141359786 141359786 single base substitution G A synonymous_variant R185R 555G>A READ-US 5 141359786 141359786 single base substitution G A synonymous_variant R311R 933G>A READ-US 5 141364449 141364449 single base substitution G A downstream_gene_variant READ-US 5 141364449 141364449 single base substitution G A missense_variant A137T 409G>A READ-US 5 141364449 141364449 single base substitution G A missense_variant A264T 790G>A READ-US 5 141364449 141364449 single base substitution G A missense_variant A314T 940G>A READ-US 5 141364449 141364449 single base substitution G A missense_variant A440T 1318G>A RECA-EU 5 141339040 141339040 single base substitution G T intron_variant RECA-EU 5 141339983 141339983 single base substitution G C intron_variant RECA-EU 5 141346010 141346010 single base substitution C T intron_variant RECA-EU 5 141346010 141346010 single base substitution C T upstream_gene_variant RECA-EU 5 141347653 141347653 single base substitution T G intron_variant RECA-EU 5 141347653 141347653 single base substitution T G upstream_gene_variant RECA-EU 5 141348018 141348018 single base substitution T A intron_variant RECA-EU 5 141348018 141348018 single base substitution T A upstream_gene_variant RECA-EU 5 141349227 141349227 single base substitution G C intron_variant RECA-EU 5 141349940 141349940 single base substitution A C intron_variant RECA-EU 5 141358251 141358251 single base substitution T A downstream_gene_variant RECA-EU 5 141358251 141358251 single base substitution T A exon_variant RECA-EU 5 141358251 141358251 single base substitution T A intron_variant RECA-EU 5 141358251 141358251 single base substitution T A missense_variant S104R 312T>A RECA-EU 5 141358251 141358251 single base substitution T A missense_variant S230R 690T>A RECA-EU 5 141365725 141365725 single base substitution C G downstream_gene_variant RECA-EU 5 141365725 141365725 single base substitution C G intron_variant RECA-EU 5 141373283 141373283 single base substitution C A downstream_gene_variant RECA-EU 5 141373286 141373286 single base substitution T A downstream_gene_variant SKCA-BR 5 141333814 141333814 single base substitution G A upstream_gene_variant SKCA-BR 5 141333828 141333828 single base substitution G A upstream_gene_variant SKCA-BR 5 141335065 141335065 single base substitution C T upstream_gene_variant SKCA-BR 5 141335694 141335694 single base substitution C T upstream_gene_variant SKCA-BR 5 141342805 141342805 single base substitution G C intron_variant SKCA-BR 5 141342805 141342805 single base substitution G C upstream_gene_variant SKCA-BR 5 141347058 141347058 single base substitution C T intron_variant SKCA-BR 5 141347058 141347058 single base substitution C T upstream_gene_variant SKCA-BR 5 141347921 141347921 single base substitution C T intron_variant SKCA-BR 5 141347921 141347921 single base substitution C T upstream_gene_variant SKCA-BR 5 141358787 141358790 deletion of <=200bp AGGT - downstream_gene_variant SKCA-BR 5 141358787 141358790 deletion of <=200bp AGGT - intron_variant SKCA-BR 5 141363169 141363169 single base substitution G T downstream_gene_variant SKCA-BR 5 141363169 141363169 single base substitution G T intron_variant SKCA-BR 5 141363772 141363772 single base substitution C T downstream_gene_variant SKCA-BR 5 141363772 141363772 single base substitution C T intron_variant SKCA-BR 5 141368726 141368726 single base substitution T C 3_prime_UTR_variant SKCA-BR 5 141368726 141368726 single base substitution T C downstream_gene_variant SKCA-BR 5 141370564 141370564 single base substitution T C downstream_gene_variant SKCM-US 5 141334755 141334755 single base substitution C T upstream_gene_variant SKCM-US 5 141335158 141335158 single base substitution C T upstream_gene_variant SKCM-US 5 141335364 141335364 single base substitution A C upstream_gene_variant SKCM-US 5 141335404 141335404 single base substitution C T upstream_gene_variant SKCM-US 5 141335515 141335515 single base substitution G A upstream_gene_variant SKCM-US 5 141335520 141335520 single base substitution C T upstream_gene_variant SKCM-US 5 141335629 141335629 single base substitution A G upstream_gene_variant SKCM-US 5 141335818 141335818 single base substitution G A upstream_gene_variant SKCM-US 5 141336315 141336315 single base substitution G A upstream_gene_variant SKCM-US 5 141336442 141336442 single base substitution C T upstream_gene_variant SKCM-US 5 141336751 141336751 single base substitution G A upstream_gene_variant SKCM-US 5 141336804 141336804 single base substitution C T upstream_gene_variant SKCM-US 5 141337251 141337251 single base substitution C T upstream_gene_variant SKCM-US 5 141359747 141359747 single base substitution C A 3_prime_UTR_variant SKCM-US 5 141359747 141359747 single base substitution C A downstream_gene_variant SKCM-US 5 141359747 141359747 single base substitution C A exon_variant SKCM-US 5 141359747 141359747 single base substitution C A intron_variant SKCM-US 5 141359747 141359747 single base substitution C A synonymous_variant S122S 366C>A SKCM-US 5 141359747 141359747 single base substitution C A synonymous_variant S172S 516C>A SKCM-US 5 141359747 141359747 single base substitution C A synonymous_variant S298S 894C>A SKCM-US 5 141367340 141367340 single base substitution T A downstream_gene_variant SKCM-US 5 141367340 141367340 single base substitution T A missense_variant D167E 501T>A SKCM-US 5 141367340 141367340 single base substitution T A missense_variant D294E 882T>A SKCM-US 5 141367340 141367340 single base substitution T A missense_variant D344E 1032T>A SKCM-US 5 141367340 141367340 single base substitution T A missense_variant D470E 1410T>A STAD-US 5 141334608 141334608 single base substitution G A upstream_gene_variant STAD-US 5 141334943 141334943 single base substitution G A upstream_gene_variant STAD-US 5 141335044 141335044 single base substitution G A upstream_gene_variant STAD-US 5 141335577 141335577 single base substitution G A upstream_gene_variant STAD-US 5 141335704 141335704 single base substitution G A upstream_gene_variant STAD-US 5 141335926 141335926 single base substitution G C upstream_gene_variant STAD-US 5 141336022 141336022 single base substitution A G upstream_gene_variant STAD-US 5 141336597 141336597 single base substitution C T upstream_gene_variant STAD-US 5 141336702 141336702 single base substitution C A upstream_gene_variant STAD-US 5 141336748 141336748 deletion of <=200bp G - upstream_gene_variant STAD-US 5 141336951 141336951 deletion of <=200bp G - upstream_gene_variant STAD-US 5 141337067 141337067 single base substitution G A upstream_gene_variant STAD-US 5 141354437 141354437 single base substitution C A downstream_gene_variant STAD-US 5 141354437 141354437 single base substitution C A intron_variant STAD-US 5 141354437 141354437 single base substitution C A missense_variant L75M 223C>A STAD-US 5 141354463 141354463 single base substitution T A downstream_gene_variant STAD-US 5 141354463 141354463 single base substitution T A intron_variant STAD-US 5 141354463 141354463 single base substitution T A stop_gained Y83* 249T>A STAD-US 5 141358224 141358224 single base substitution T C downstream_gene_variant STAD-US 5 141358224 141358224 single base substitution T C exon_variant STAD-US 5 141358224 141358224 single base substitution T C intron_variant STAD-US 5 141358224 141358224 single base substitution T C synonymous_variant S221S 663T>C STAD-US 5 141358224 141358224 single base substitution T C synonymous_variant S95S 285T>C THCA-SA 5 141336264 141336264 single base substitution G T upstream_gene_variant THCA-US 5 141364442 141364442 single base substitution C G downstream_gene_variant THCA-US 5 141364442 141364442 single base substitution C G synonymous_variant L134L 402C>G THCA-US 5 141364442 141364442 single base substitution C G synonymous_variant L261L 783C>G THCA-US 5 141364442 141364442 single base substitution C G synonymous_variant L311L 933C>G THCA-US 5 141364442 141364442 single base substitution C G synonymous_variant L437L 1311C>G UCEC-US 5 141335349 141335349 single base substitution G T upstream_gene_variant UCEC-US 5 141335351 141335351 single base substitution G T upstream_gene_variant UCEC-US 5 141335544 141335544 single base substitution C A upstream_gene_variant UCEC-US 5 141335626 141335626 single base substitution G A upstream_gene_variant UCEC-US 5 141335709 141335709 single base substitution G A upstream_gene_variant UCEC-US 5 141335739 141335739 single base substitution C A upstream_gene_variant UCEC-US 5 141336190 141336190 single base substitution T C upstream_gene_variant UCEC-US 5 141336244 141336244 single base substitution G T upstream_gene_variant UCEC-US 5 141336245 141336245 single base substitution C T upstream_gene_variant UCEC-US 5 141336282 141336282 single base substitution C A upstream_gene_variant UCEC-US 5 141337195 141337195 single base substitution C T upstream_gene_variant UCEC-US 5 141337216 141337216 single base substitution C A upstream_gene_variant UCEC-US 5 141353262 141353262 single base substitution A G 5_prime_UTR_variant UCEC-US 5 141353262 141353262 single base substitution A G downstream_gene_variant UCEC-US 5 141353262 141353262 single base substitution A G exon_variant UCEC-US 5 141353262 141353262 single base substitution A G missense_variant R37G 109A>G UCEC-US 5 141353306 141353306 single base substitution C T downstream_gene_variant UCEC-US 5 141353306 141353306 single base substitution C T splice_region_variant UCEC-US 5 141354400 141354400 single base substitution C T downstream_gene_variant UCEC-US 5 141354400 141354400 single base substitution C T intron_variant UCEC-US 5 141354400 141354400 single base substitution C T synonymous_variant G62G 186C>T UCEC-US 5 141358266 141358266 single base substitution C A downstream_gene_variant UCEC-US 5 141358266 141358266 single base substitution C A exon_variant UCEC-US 5 141358266 141358266 single base substitution C A intron_variant UCEC-US 5 141358266 141358266 single base substitution C A missense_variant F109L 327C>A UCEC-US 5 141358266 141358266 single base substitution C A missense_variant F235L 705C>A UCEC-US 5 141359765 141359765 single base substitution A G 3_prime_UTR_variant UCEC-US 5 141359765 141359765 single base substitution A G downstream_gene_variant UCEC-US 5 141359765 141359765 single base substitution A G exon_variant UCEC-US 5 141359765 141359765 single base substitution A G intron_variant UCEC-US 5 141359765 141359765 single base substitution A G synonymous_variant A128A 384A>G UCEC-US 5 141359765 141359765 single base substitution A G synonymous_variant A178A 534A>G UCEC-US 5 141359765 141359765 single base substitution A G synonymous_variant A304A 912A>G UCEC-US 5 141362946 141362946 single base substitution G T downstream_gene_variant UCEC-US 5 141362946 141362946 single base substitution G T missense_variant E179D 537G>T UCEC-US 5 141362946 141362946 single base substitution G T missense_variant E229D 687G>T UCEC-US 5 141362946 141362946 single base substitution G T missense_variant E355D 1065G>T UCEC-US 5 141362946 141362946 single base substitution G T missense_variant E52D 156G>T UCEC-US 5 141362946 141362946 single base substitution G T splice_region_variant UCEC-US 5 141367317 141367317 single base substitution G T downstream_gene_variant UCEC-US 5 141367317 141367317 single base substitution G T missense_variant V160F 478G>T UCEC-US 5 141367317 141367317 single base substitution G T missense_variant V287F 859G>T UCEC-US 5 141367317 141367317 single base substitution G T missense_variant V337F 1009G>T UCEC-US 5 141367317 141367317 single base substitution G T missense_variant V463F 1387G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 2492721 COSM5723788 c.488C>T p.P163L Substitution - Missense 5:141978484-141978484 + LAU50_2 COSM235288 c.1362T>C p.F454F Substitution - coding silent 5:141984928-141984928 + OCI-Ly1 COSM221030 c.777G>T p.Q259H Substitution - Missense 5:141978773-141978773 + 12924 COSM5615481 c.314C>G p.A105G Substitution - Missense 5:141978310-141978310 + TCGA-AO-A0JF-01 COSM449021 c.860_861insAGG p.L287_F288insG Insertion - In frame 5:141980148-141980149 + 587376 COSM1223905 c.230T>G p.F77C Substitution - Missense 5:141974879-141974879 + CSCC-20-T COSM4507192 c.739C>T p.L247L Substitution - coding silent 5:141978735-141978735 + TCGA-BG-A0M0-01 COSM1063603 c.1090T>A p.Y364N Substitution - Missense 5:141983406-141983406 + TCGA-ED-A7PX-01 COSM4941413 c.783A>G p.Q261Q Substitution - coding silent 5:141978779-141978779 + TCGA-A7-A13E-01 COSM3827290 c.1192G>A p.E398K Substitution - Missense 5:141983508-141983508 + C0077T COSM4155536 c.690T>A p.S230R Substitution - Missense 5:141978686-141978686 + TCGA-B5-A0JY-01 COSM277083 c.1065G>T p.E355D Substitution - Missense 5:141983381-141983381 + RK027_C01 COSM1634040 c.1321A>T p.N441Y Substitution - Missense 5:141984887-141984887 + HCC129T COSM5817046 c.999T>C p.N333N Substitution - coding silent 5:141980287-141980287 + 587336 COSM1223904 c.935C>T p.P312L Substitution - Missense 5:141980223-141980223 + TCGA-D1-A176-01 COSM1063602 c.912A>G p.A304A Substitution - coding silent 5:141980200-141980200 + TCGA-AM-5821-01 COSM3761016 c.588T>C p.N196N Substitution - coding silent 5:141978584-141978584 + 2521243 COSM5886437 c.1214C>T p.P405L Substitution - Missense 5:141983530-141983530 + T1764 COSM4721994 c.60C>T p.Y20Y Substitution - coding silent 5:141973648-141973648 + 2492723 COSM5723788 c.488C>T p.P163L Substitution - Missense 5:141978484-141978484 + TCGA-F5-6814-01 COSM3429115 c.933G>A p.R311R Substitution - coding silent 5:141980221-141980221 + TCGA-A5-A0GJ-01 COSM1063604 c.1387G>T p.V463F Substitution - Missense 5:141987752-141987752 + TCGA-D8-A1Y1-01 COSM1486450 c.936G>A p.P312P Substitution - coding silent 5:141980224-141980224 + STC252 COSM5060804 c.688A>G p.S230G Substitution - Missense 5:141978684-141978684 + PD7069a COSM5788814 c.496G>A p.E166K Substitution - Missense 5:141978492-141978492 + 2492722 COSM5723788 c.488C>T p.P163L Substitution - Missense 5:141978484-141978484 + T3202 COSM4721995 c.154G>A p.G52S Substitution - Missense 5:141973742-141973742 + TCGA-BH-A0BR-01 COSM449022 c.1097delA p.A367fs*17 Deletion - Frameshift 5:141983413-141983413 + LUAD-5V8LT COSM402708 c.1260G>T p.M420I Substitution - Missense 5:141984826-141984826 + PR-00-1165 COSM247057 c.5C>T p.S2L Substitution - Missense 5:141973593-141973593 + TCGA-AC-A23H-01 COSM3827288 c.232G>C p.E78Q Substitution - Missense 5:141974881-141974881 + TCGA-IA-A40U-01 COSM3994076 c.378G>T p.W126C Substitution - Missense 5:141978374-141978374 + TCGA-BS-A0UF-01 COSM1063599 c.153C>T p.S51S Substitution - coding silent 5:141973741-141973741 + sysucc-311T COSM5466325 c.166G>T p.E56* Substitution - Nonsense 5:141974815-141974815 + 2492720 COSM5723788 c.488C>T p.P163L Substitution - Missense 5:141978484-141978484 + PA018 COSM1162205 c.1014T>G p.T338T Substitution - coding silent 5:141980302-141980302 + TCGA-AA-3510-01 COSM1434805 c.717G>A p.R239R Substitution - coding silent 5:141978713-141978713 + TCGA-FW-A3R5-06 COSM3919211 c.894C>A p.S298S Substitution - coding silent 5:141980182-141980182 + TCGA-BJ-A0ZC-01 COSM3373729 c.1311C>G p.L437L Substitution - coding silent 5:141984877-141984877 + TCGA-DC-6154-01 COSM3429116 c.1318G>A p.A440T Substitution - Missense 5:141984884-141984884 + TCGA-AZ-6601-01 COSM1434804 c.361G>A p.V121M Substitution - Missense 5:141978357-141978357 + T276 COSM4721993 c.13G>C p.D5H Substitution - Missense 5:141973601-141973601 + TCGA-IR-A3LK-01 COSM4817625 c.1234G>C p.E412Q Substitution - Missense 5:141983550-141983550 + TCGA-AX-A05Z-01 COSM1063601 c.705C>A p.F235L Substitution - Missense 5:141978701-141978701 + TCGA-DR-A0ZM-01 COSM462045 c.841G>C p.E281Q Substitution - Missense 5:141980129-141980129 + ESCC_149 COSM5644889 c.861A>G p.L287L Substitution - coding silent 5:141980149-141980149 + TCGA-A8-A0A6-01 COSM3827289 c.264A>C p.P88P Substitution - coding silent 5:141974913-141974913 + PT45 COSM5927400 c.1128T>A p.D376E Substitution - Missense 5:141983444-141983444 + ATL065 COSM5709542 c.1096C>T p.Q366* Substitution - Nonsense 5:141983412-141983412 + sysucc-311T COSM3209447 c.1396G>A p.D466N Substitution - Missense 5:141987761-141987761 + TCGA-AA-A00N-01 COSM277083 c.1065G>T p.E355D Substitution - Missense 5:141983381-141983381 + TCGA-DS-A0VN-01 COSM462046 c.1A>G p.M1V Substitution - Missense 5:141973589-141973589 + TCGA-B5-A11R-01 COSM1063598 c.109A>G p.R37G Substitution - Missense 5:141973697-141973697 + TCGA-BR-6452-01 COSM3852304 c.223C>A p.L75M Substitution - Missense 5:141974872-141974872 + TCGA-DU-7306-01 COSM3975298 c.151A>G p.S51G Substitution - Missense 5:141973739-141973739 + TCGA-CZ-5459-01 COSM482263 c.269C>T p.S90L Substitution - Missense 5:141974918-141974918 + TCGA-CG-4442-01 COSM3852305 c.249T>A p.Y83* Substitution - Nonsense 5:141974898-141974898 + 1604875 COSM141135 c.190G>A p.E64K Substitution - Missense 5:141974839-141974839 + TCGA-EW-A1IZ-01 COSM1486450 c.936G>A p.P312P Substitution - coding silent 5:141980224-141980224 + TCGA-EE-A20C-06 COSM3611828 c.1410T>A p.D470E Substitution - Missense 5:141987775-141987775 + TCGA-B0-5098-01 COSM1496011 c.322A>G p.K108E Substitution - Missense 5:141978318-141978318 + TCGA-CG-5723-01 COSM3852306 c.663T>C p.S221S Substitution - coding silent 5:141978659-141978659 + TCGA-AP-A0LM-01 COSM1063600 c.186C>T p.G62G Substitution - coding silent 5:141974835-141974835 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.483616 5q23.3-q31.1 605675

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - Frameshift p.A367Rfs*17 c.1098delA 5 141362978 BRCA - AGG InFrameInsertion p.L287_F288insR c.861_862insAGG 5 141359714 BRCA A G Missense p.R373G c.1117A>G 5 141362998 RCCC A G Missense p.R37G c.109A>G 5 141353262 UCEC A G Missense p.S51G c.151A>G 5 141353304 LGG A G Synonymous p.A304A c.912A>G 5 141359765 UCEC A T Missense p.N441Y c.1321A>T 5 141364452 HC C G Missense p.A105G c.314C>G 5 141357875 NSCLC C G Missense p.Q160E c.478C>G 5 141358039 HNSC C G Missense p.Q320E c.958C>G 5 141359811 HNSC C G Synonymous p.L437L c.1311C>G 5 141364442 THCA C T Missense p.S2L c.5C>T 5 141353158 HNSC C T Missense p.S90L c.269C>T 5 141354483 RCCC C T Nonsense p.Q151* c.451C>T 5 141358012 HNSC G A Synonymous p.P312P c.936G>A 5 141359789 BRCA G C Missense p.E321Q c.961G>C 5 141359814 CM - G Frameshift p.L342Vfs*10 c.1023dupG 5 141359875 LUAD G T Missense p.D376Y c.1126G>T 5 141363007 HNSC G T Missense p.V463F c.1387G>T 5 141367317 UCEC T A Missense p.D470E c.1410T>A 5 141367340 CM T C Missense p.Y379H c.1135T>C 5 141363016 RCCC T C Synonymous p.C223C c.669T>C 5 141358230 HNSC