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 4 53476749 53476749 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 g.chr4:53476749G>A c.596C>T c.(595-597)tCt>tTt p.S199F BLCA 4 53476771 53476771 + Missense_Mutation SNP C C G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr4:53476771C>G c.574G>C c.(574-576)Gat>Cat p.D192H BRCA 4 53468079 53468079 + Silent SNP A A G TCGA-A2-A04R-01A-41D-A117-09 TCGA-A2-A04R-10B-01D-A10G-09 g.chr4:53468079A>G c.864T>C c.(862-864)gaT>gaC p.D288D BRCA 4 53468094 53468094 + Silent SNP G G A TCGA-A2-A3XZ-01A-42D-A23C-09 TCGA-A2-A3XZ-10A-01D-A23C-09 g.chr4:53468094G>A c.849C>T c.(847-849)ttC>ttT p.F283F BRCA 4 53492238 53492238 + Missense_Mutation SNP C C T TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 g.chr4:53492238C>T c.508G>A c.(508-510)Gag>Aag p.E170K CESC 4 53492271 53492271 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 g.chr4:53492271C>G c.475G>C c.(475-477)Gaa>Caa p.E159Q COAD 4 53464836 53464836 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:53464836T>G c.957A>C c.(955-957)aaA>aaC p.K319N COAD 4 53492294 53492294 + Frame_Shift_Del DEL T T - TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr4:53492294delT c.452delA c.(451-453)aatfs p.N151fs COAD 4 53494148 53494148 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:53494148C>A c.300G>T c.(298-300)aaG>aaT p.K100N COAD 4 53494169 53494171 + In_Frame_Del DEL CTT CTT - TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr4:53494169_53494171delCTT c.277_279delAAG c.(277-279)aagdel p.K93del COAD 4 53494204 53494204 + Missense_Mutation SNP C C T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr4:53494204C>T c.244G>A c.(244-246)Gac>Aac p.D82N COAD 4 53494246 53494246 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr4:53494246C>T c.202G>A c.(202-204)Gcc>Acc p.A68T COAD 4 53497229 53497229 + Splice_Site SNP A A G TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr4:53497229A>G c.e2+1 COAD 4 53525314 53525314 + Missense_Mutation SNP T T G TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr4:53525314T>G c.4A>C c.(4-6)Act>Cct p.T2P COADREAD 4 53464836 53464836 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:53464836T>G c.957A>C c.(955-957)aaA>aaC p.K319N COADREAD 4 53464862 53464862 + Missense_Mutation SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr4:53464862G>A c.931C>T c.(931-933)Cgt>Tgt p.R311C COADREAD 4 53468064 53468064 + Silent SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr4:53468064G>A c.879C>T c.(877-879)gaC>gaT p.D293D COADREAD 4 53492294 53492294 + Frame_Shift_Del DEL T T - TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr4:53492294delT c.452delA c.(451-453)aatfs p.N151fs COADREAD 4 53494148 53494148 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:53494148C>A c.300G>T c.(298-300)aaG>aaT p.K100N COADREAD 4 53494169 53494171 + In_Frame_Del DEL CTT CTT - TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr4:53494169_53494171delCTT c.277_279delAAG c.(277-279)aagdel p.K93del COADREAD 4 53494204 53494204 + Missense_Mutation SNP C C T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr4:53494204C>T c.244G>A c.(244-246)Gac>Aac p.D82N COADREAD 4 53494246 53494246 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr4:53494246C>T c.202G>A c.(202-204)Gcc>Acc p.A68T COADREAD 4 53497229 53497229 + Splice_Site SNP A A G TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr4:53497229A>G c.e2+1 COADREAD 4 53525314 53525314 + Missense_Mutation SNP T T G TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr4:53525314T>G c.4A>C c.(4-6)Act>Cct p.T2P DLBC 4 53494283 53494283 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr4:53494283G>A c.165C>T c.(163-165)ttC>ttT p.F55F ESCA 4 53470744 53470744 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 g.chr4:53470744G>A c.645C>T c.(643-645)ttC>ttT p.F215F ESCA 4 53476753 53476753 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 g.chr4:53476753G>T c.592C>A c.(592-594)Ctt>Att p.L198I ESCA 4 53494205 53494205 + Silent SNP C C T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 g.chr4:53494205C>T c.243G>A c.(241-243)gcG>gcA p.A81A GBM 4 53468067 53468067 + Silent SNP C C G TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 g.chr4:53468067C>G c.876G>C c.(874-876)ctG>ctC p.L292L GBMLGG 4 53468067 53468067 + Silent SNP C C G TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 g.chr4:53468067C>G c.876G>C c.(874-876)ctG>ctC p.L292L HNSC 4 53464859 53464859 + Missense_Mutation SNP C C G TCGA-CN-A642-01A-12D-A30E-08 TCGA-CN-A642-10A-01D-A30H-08 g.chr4:53464859C>G c.934G>C c.(934-936)Ggg>Cgg p.G312R HNSC 4 53470719 53470719 + Missense_Mutation SNP C C T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 g.chr4:53470719C>T c.670G>A c.(670-672)Gaa>Aaa p.E224K HNSC 4 53492412 53492412 + Missense_Mutation SNP G G C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 g.chr4:53492412G>C c.334C>G c.(334-336)Ctc>Gtc p.L112V HNSC 4 53494256 53494256 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 g.chr4:53494256C>A c.192G>T c.(190-192)ttG>ttT p.L64F KIPAN 4 53492228 53492228 + Missense_Mutation SNP T T C TCGA-B1-A657-01A-11D-A31X-10 TCGA-B1-A657-10A-01D-A31X-10 g.chr4:53492228T>C c.518A>G c.(517-519)cAg>cGg p.Q173R KIRP 4 53492228 53492228 + Missense_Mutation SNP T T C TCGA-B1-A657-01A-11D-A31X-10 TCGA-B1-A657-10A-01D-A31X-10 g.chr4:53492228T>C c.518A>G c.(517-519)cAg>cGg p.Q173R LUAD 4 53468093 53468093 + Missense_Mutation SNP T T C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 g.chr4:53468093T>C c.850A>G c.(850-852)Aac>Gac p.N284D LUAD 4 53468111 53468111 + Missense_Mutation SNP G G C TCGA-86-8585-01A-11D-2393-08 TCGA-86-8585-10A-01D-2393-08 g.chr4:53468111G>C c.832C>G c.(832-834)Ctg>Gtg p.L278V LUAD 4 53468216 53468216 + Missense_Mutation SNP T T A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 g.chr4:53468216T>A c.727A>T c.(727-729)Agg>Tgg p.R243W LUAD 4 53492214 53492214 + Missense_Mutation SNP T T G TCGA-69-8255-01A-11D-2284-08 TCGA-69-8255-10A-01D-2284-08 g.chr4:53492214T>G c.532A>C c.(532-534)Aat>Cat p.N178H LUAD 4 53492221 53492221 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr4:53492221C>A c.525G>T c.(523-525)acG>acT p.T175T LUAD 4 53494232 53494232 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr4:53494232C>A c.216G>T c.(214-216)aaG>aaT p.K72N LUSC 4 53476783 53476783 + Splice_Site SNP C C G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr4:53476783C>G c.562G>C c.(562-564)Gtt>Ctt p.V188L LUSC 4 53492340 53492340 + Missense_Mutation SNP G G A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 g.chr4:53492340G>A c.406C>T c.(406-408)Ctt>Ttt p.L136F LUSC 4 53497298 53497298 + Missense_Mutation SNP G G C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr4:53497298G>C c.50C>G c.(49-51)tCt>tGt p.S17C OV 4 53476722 53476722 + Missense_Mutation SNP A A G TCGA-24-1423-01A-01W-0545-08 TCGA-24-1423-10A-01W-0545-08 g.chr4:53476722A>G c.623T>C c.(622-624)aTt>aCt p.I208T OV 4 53492362 53492362 + Frame_Shift_Del DEL C C - TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 g.chr4:53492362delC c.384delG c.(382-384)ttgfs p.L129fs PAAD 4 53468125 53468125 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:53468125C>T c.818G>A c.(817-819)cGt>cAt p.R273H PRAD 4 53468062 53468062 + Missense_Mutation SNP C C A TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 g.chr4:53468062C>A c.881G>T c.(880-882)cGc>cTc p.R294L PRAD 4 53494320 53494320 + Missense_Mutation SNP G G C TCGA-V1-A9Z9-01A-21D-A41K-08 TCGA-V1-A9Z9-10A-01D-A41N-08 g.chr4:53494320G>C c.128C>G c.(127-129)aCa>aGa p.T43R READ 4 53464862 53464862 + Missense_Mutation SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr4:53464862G>A c.931C>T c.(931-933)Cgt>Tgt p.R311C READ 4 53468064 53468064 + Silent SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr4:53468064G>A c.879C>T c.(877-879)gaC>gaT p.D293D SARC 4 53492298 53492298 + Missense_Mutation SNP T T C TCGA-SI-AA8C-01A-11D-A387-09 TCGA-SI-AA8C-10A-01D-A38A-09 g.chr4:53492298T>C c.448A>G c.(448-450)Aaa>Gaa p.K150E SKCM 4 53468187 53468187 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr4:53468187G>A c.756C>T c.(754-756)gcC>gcT p.A252A SKCM 4 53476724 53476724 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:53476724G>A c.621C>T c.(619-621)tcC>tcT p.S207S SKCM 4 53494232 53494232 + Silent SNP C C T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr4:53494232C>T c.216G>A c.(214-216)aaG>aaA p.K72K SKCM 4 53494304 53494304 + Silent SNP G G A TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr4:53494304G>A c.144C>T c.(142-144)tcC>tcT p.S48S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 4 53452969 53452969 single base substitution G C downstream_gene_variant BRCA-EU 4 53454180 53454180 single base substitution G C downstream_gene_variant BRCA-EU 4 53454988 53454988 single base substitution G C downstream_gene_variant BRCA-EU 4 53455048 53455048 single base substitution C T downstream_gene_variant BRCA-EU 4 53455060 53455060 single base substitution C T downstream_gene_variant BRCA-EU 4 53456829 53456829 deletion of <=200bp T - downstream_gene_variant BRCA-EU 4 53458980 53458980 single base substitution G A 3_prime_UTR_variant BRCA-EU 4 53458980 53458980 single base substitution G A downstream_gene_variant BRCA-EU 4 53459831 53459831 deletion of <=200bp G - 3_prime_UTR_variant BRCA-EU 4 53459831 53459831 deletion of <=200bp G - downstream_gene_variant BRCA-EU 4 53463793 53463793 single base substitution G A 3_prime_UTR_variant BRCA-EU 4 53464471 53464471 single base substitution G C intron_variant BRCA-EU 4 53465521 53465521 single base substitution C T intron_variant BRCA-EU 4 53466413 53466413 deletion of <=200bp A - intron_variant BRCA-EU 4 53467092 53467092 single base substitution C G intron_variant BRCA-EU 4 53468827 53468827 deletion of <=200bp A - intron_variant BRCA-EU 4 53469493 53469493 single base substitution G C intron_variant BRCA-EU 4 53469710 53469710 single base substitution G A intron_variant BRCA-EU 4 53470262 53470262 single base substitution G A intron_variant BRCA-EU 4 53470432 53470432 single base substitution G A intron_variant BRCA-EU 4 53470910 53470910 single base substitution T A intron_variant BRCA-EU 4 53470925 53470925 deletion of <=200bp A - intron_variant BRCA-EU 4 53471877 53471877 single base substitution T C intron_variant BRCA-EU 4 53473084 53473084 single base substitution T C intron_variant BRCA-EU 4 53473358 53473358 single base substitution A G intron_variant BRCA-EU 4 53473494 53473494 single base substitution C G intron_variant BRCA-EU 4 53473641 53473641 single base substitution A C intron_variant BRCA-EU 4 53477141 53477141 single base substitution G A intron_variant BRCA-EU 4 53477421 53477421 single base substitution C T intron_variant BRCA-EU 4 53478055 53478055 single base substitution C G intron_variant BRCA-EU 4 53481446 53481446 single base substitution C T intron_variant BRCA-EU 4 53481874 53481874 single base substitution T C intron_variant BRCA-EU 4 53483110 53483110 single base substitution A G intron_variant BRCA-EU 4 53483548 53483548 single base substitution C T intron_variant BRCA-EU 4 53483647 53483647 single base substitution G C intron_variant BRCA-EU 4 53485825 53485825 single base substitution T C intron_variant BRCA-EU 4 53488706 53488706 single base substitution A T downstream_gene_variant BRCA-EU 4 53488706 53488706 single base substitution A T intron_variant BRCA-EU 4 53493390 53493390 single base substitution A G downstream_gene_variant BRCA-EU 4 53493390 53493390 single base substitution A G intron_variant BRCA-EU 4 53494915 53494915 single base substitution A C downstream_gene_variant BRCA-EU 4 53494915 53494915 single base substitution A C intron_variant BRCA-EU 4 53494915 53494915 single base substitution A C upstream_gene_variant BRCA-EU 4 53495286 53495286 single base substitution G C downstream_gene_variant BRCA-EU 4 53495286 53495286 single base substitution G C intron_variant BRCA-EU 4 53495286 53495286 single base substitution G C upstream_gene_variant BRCA-EU 4 53495546 53495546 single base substitution T G downstream_gene_variant BRCA-EU 4 53495546 53495546 single base substitution T G intron_variant BRCA-EU 4 53495546 53495546 single base substitution T G upstream_gene_variant BRCA-EU 4 53496367 53496367 single base substitution G C downstream_gene_variant BRCA-EU 4 53496367 53496367 single base substitution G C intron_variant BRCA-EU 4 53496367 53496367 single base substitution G C upstream_gene_variant BRCA-EU 4 53497155 53497155 single base substitution T C downstream_gene_variant BRCA-EU 4 53497155 53497155 single base substitution T C intron_variant BRCA-EU 4 53497155 53497155 single base substitution T C upstream_gene_variant BRCA-EU 4 53497542 53497542 single base substitution G C intron_variant BRCA-EU 4 53497542 53497542 single base substitution G C upstream_gene_variant BRCA-EU 4 53497680 53497680 single base substitution T C intron_variant BRCA-EU 4 53497680 53497680 single base substitution T C upstream_gene_variant BRCA-EU 4 53500861 53500861 single base substitution G A intron_variant BRCA-EU 4 53501019 53501019 single base substitution G A intron_variant BRCA-EU 4 53504818 53504818 deletion of <=200bp T - intron_variant BRCA-EU 4 53505061 53505061 single base substitution C T intron_variant BRCA-EU 4 53506405 53506405 single base substitution G T intron_variant BRCA-EU 4 53507716 53507716 single base substitution G T intron_variant BRCA-EU 4 53508968 53508968 single base substitution G C intron_variant BRCA-EU 4 53511139 53511139 single base substitution G A intron_variant BRCA-EU 4 53513770 53513770 single base substitution G C intron_variant BRCA-EU 4 53513903 53513903 single base substitution T A intron_variant BRCA-EU 4 53515023 53515023 single base substitution C G intron_variant BRCA-EU 4 53515531 53515531 single base substitution G A intron_variant BRCA-EU 4 53516892 53516892 single base substitution G A intron_variant BRCA-EU 4 53516942 53516942 single base substitution A T intron_variant BRCA-EU 4 53517381 53517381 single base substitution A T intron_variant BRCA-EU 4 53517553 53517553 single base substitution G A intron_variant BRCA-EU 4 53520957 53520957 single base substitution A G intron_variant BRCA-EU 4 53521618 53521618 single base substitution G C intron_variant BRCA-EU 4 53522750 53522750 single base substitution A C 5_prime_UTR_variant BRCA-EU 4 53522750 53522750 single base substitution A C exon_variant BRCA-EU 4 53522750 53522750 single base substitution A C intron_variant BRCA-EU 4 53522750 53522750 single base substitution A C upstream_gene_variant BRCA-EU 4 53523499 53523499 single base substitution C G intron_variant BRCA-EU 4 53523499 53523499 single base substitution C G upstream_gene_variant BRCA-EU 4 53524277 53524277 single base substitution G A intron_variant BRCA-EU 4 53524277 53524277 single base substitution G A upstream_gene_variant BRCA-EU 4 53525640 53525640 single base substitution C G upstream_gene_variant BRCA-EU 4 53525641 53525641 single base substitution G A upstream_gene_variant BRCA-EU 4 53527481 53527481 single base substitution C G upstream_gene_variant BRCA-EU 4 53528975 53528975 insertion of <=200bp - T upstream_gene_variant BRCA-EU 4 53530073 53530073 single base substitution G C upstream_gene_variant BRCA-EU 4 53530175 53530175 single base substitution A T upstream_gene_variant BRCA-FR 4 53460550 53460550 single base substitution G A 3_prime_UTR_variant BRCA-FR 4 53460550 53460550 single base substitution G A downstream_gene_variant BRCA-FR 4 53463895 53463895 single base substitution G C 3_prime_UTR_variant BRCA-FR 4 53463895 53463895 single base substitution G C missense_variant Q311E 931C>G BRCA-FR 4 53463895 53463895 single base substitution G C missense_variant Q331E 991C>G BRCA-FR 4 53463895 53463895 single base substitution G C missense_variant Q338E 1012C>G BRCA-FR 4 53469493 53469493 single base substitution G C intron_variant BRCA-FR 4 53477141 53477141 single base substitution G A intron_variant BRCA-FR 4 53515531 53515531 single base substitution G A intron_variant BRCA-UK 4 53495286 53495286 single base substitution G C downstream_gene_variant BRCA-UK 4 53495286 53495286 single base substitution G C intron_variant BRCA-UK 4 53495286 53495286 single base substitution G C upstream_gene_variant BRCA-UK 4 53520957 53520957 single base substitution A G intron_variant BRCA-US 4 53468079 53468079 single base substitution A G 3_prime_UTR_variant BRCA-US 4 53468079 53468079 single base substitution A G synonymous_variant D261D 783T>C BRCA-US 4 53468079 53468079 single base substitution A G synonymous_variant D281D 843T>C BRCA-US 4 53468079 53468079 single base substitution A G synonymous_variant D288D 864T>C BRCA-US 4 53468094 53468094 single base substitution G A 3_prime_UTR_variant BRCA-US 4 53468094 53468094 single base substitution G A synonymous_variant F256F 768C>T BRCA-US 4 53468094 53468094 single base substitution G A synonymous_variant F276F 828C>T BRCA-US 4 53468094 53468094 single base substitution G A synonymous_variant F283F 849C>T BRCA-US 4 53492238 53492238 single base substitution C T 3_prime_UTR_variant BRCA-US 4 53492238 53492238 single base substitution C T downstream_gene_variant BRCA-US 4 53492238 53492238 single base substitution C T missense_variant E143K 427G>A BRCA-US 4 53492238 53492238 single base substitution C T missense_variant E163K 487G>A BRCA-US 4 53492238 53492238 single base substitution C T missense_variant E170K 508G>A BTCA-JP 4 53494293 53494293 single base substitution G T 3_prime_UTR_variant BTCA-JP 4 53494293 53494293 single base substitution G T downstream_gene_variant BTCA-JP 4 53494293 53494293 single base substitution G T exon_variant BTCA-JP 4 53494293 53494293 single base substitution G T missense_variant A25E 74C>A BTCA-JP 4 53494293 53494293 single base substitution G T missense_variant A45E 134C>A BTCA-JP 4 53494293 53494293 single base substitution G T missense_variant A52E 155C>A CESC-US 4 53492271 53492271 single base substitution C G 3_prime_UTR_variant CESC-US 4 53492271 53492271 single base substitution C G downstream_gene_variant CESC-US 4 53492271 53492271 single base substitution C G exon_variant CESC-US 4 53492271 53492271 single base substitution C G missense_variant E132Q 394G>C CESC-US 4 53492271 53492271 single base substitution C G missense_variant E152Q 454G>C CESC-US 4 53492271 53492271 single base substitution C G missense_variant E159Q 475G>C CLLE-ES 4 53478501 53478501 single base substitution C A intron_variant CLLE-ES 4 53490547 53490547 single base substitution A C downstream_gene_variant CLLE-ES 4 53490547 53490547 single base substitution A C intron_variant CLLE-ES 4 53499904 53499904 single base substitution T G intron_variant CLLE-ES 4 53501728 53501728 single base substitution C A intron_variant COAD-US 4 53464836 53464836 single base substitution T G 3_prime_UTR_variant COAD-US 4 53464836 53464836 single base substitution T G missense_variant K292N 876A>C COAD-US 4 53464836 53464836 single base substitution T G missense_variant K312N 936A>C COAD-US 4 53464836 53464836 single base substitution T G missense_variant K319N 957A>C COAD-US 4 53492294 53492294 deletion of <=200bp T - 3_prime_UTR_variant COAD-US 4 53492294 53492294 deletion of <=200bp T - downstream_gene_variant COAD-US 4 53492294 53492294 deletion of <=200bp T - exon_variant COAD-US 4 53492294 53492294 deletion of <=200bp T - frameshift_variant N124 COAD-US 4 53492294 53492294 deletion of <=200bp T - frameshift_variant N144 COAD-US 4 53492294 53492294 deletion of <=200bp T - frameshift_variant N151 COAD-US 4 53494148 53494148 single base substitution C A 3_prime_UTR_variant COAD-US 4 53494148 53494148 single base substitution C A downstream_gene_variant COAD-US 4 53494148 53494148 single base substitution C A exon_variant COAD-US 4 53494148 53494148 single base substitution C A missense_variant K100N 300G>T COAD-US 4 53494148 53494148 single base substitution C A missense_variant K73N 219G>T COAD-US 4 53494148 53494148 single base substitution C A missense_variant K93N 279G>T COAD-US 4 53494246 53494246 single base substitution C T 3_prime_UTR_variant COAD-US 4 53494246 53494246 single base substitution C T downstream_gene_variant COAD-US 4 53494246 53494246 single base substitution C T exon_variant COAD-US 4 53494246 53494246 single base substitution C T missense_variant A41T 121G>A COAD-US 4 53494246 53494246 single base substitution C T missense_variant A61T 181G>A COAD-US 4 53494246 53494246 single base substitution C T missense_variant A68T 202G>A COAD-US 4 53497229 53497229 single base substitution A G downstream_gene_variant COAD-US 4 53497229 53497229 single base substitution A G intron_variant COAD-US 4 53497229 53497229 single base substitution A G splice_donor_variant COAD-US 4 53497229 53497229 single base substitution A G upstream_gene_variant COCA-CN 4 53463724 53463724 single base substitution G A 3_prime_UTR_variant COCA-CN 4 53463724 53463724 single base substitution G A downstream_gene_variant COCA-CN 4 53463763 53463763 single base substitution G T 3_prime_UTR_variant COCA-CN 4 53464881 53464881 single base substitution G T intron_variant EOPC-DE 4 53518905 53518905 single base substitution C T intron_variant ESAD-UK 4 53453357 53453357 single base substitution A G downstream_gene_variant ESAD-UK 4 53453541 53453541 single base substitution C A downstream_gene_variant ESAD-UK 4 53454338 53454338 single base substitution A T downstream_gene_variant ESAD-UK 4 53454438 53454438 single base substitution C T downstream_gene_variant ESAD-UK 4 53455203 53455203 single base substitution A C downstream_gene_variant ESAD-UK 4 53456788 53456788 single base substitution G C downstream_gene_variant ESAD-UK 4 53459305 53459305 deletion of <=200bp T - 3_prime_UTR_variant ESAD-UK 4 53459305 53459305 deletion of <=200bp T - downstream_gene_variant ESAD-UK 4 53463213 53463213 single base substitution C T 3_prime_UTR_variant ESAD-UK 4 53463213 53463213 single base substitution C T downstream_gene_variant ESAD-UK 4 53468225 53468225 single base substitution G C splice_region_variant ESAD-UK 4 53469327 53469327 single base substitution G T intron_variant ESAD-UK 4 53470502 53470502 single base substitution C A intron_variant ESAD-UK 4 53471067 53471067 insertion of <=200bp - A intron_variant ESAD-UK 4 53471499 53471499 single base substitution T C intron_variant ESAD-UK 4 53471836 53471836 single base substitution A G intron_variant ESAD-UK 4 53472757 53472757 single base substitution C T intron_variant ESAD-UK 4 53473449 53473449 single base substitution A C intron_variant ESAD-UK 4 53473607 53473607 single base substitution A T intron_variant ESAD-UK 4 53474378 53474378 single base substitution C T intron_variant ESAD-UK 4 53474885 53474885 single base substitution T A intron_variant ESAD-UK 4 53476826 53476826 single base substitution T G intron_variant ESAD-UK 4 53478209 53478212 deletion of <=200bp TGTC - intron_variant ESAD-UK 4 53478361 53478361 single base substitution A T intron_variant ESAD-UK 4 53483257 53483257 single base substitution G A intron_variant ESAD-UK 4 53484993 53484993 single base substitution C T intron_variant ESAD-UK 4 53486717 53486717 insertion of <=200bp - A intron_variant ESAD-UK 4 53491024 53491024 single base substitution G T downstream_gene_variant ESAD-UK 4 53491024 53491024 single base substitution G T intron_variant ESAD-UK 4 53494396 53494396 single base substitution G C downstream_gene_variant ESAD-UK 4 53494396 53494396 single base substitution G C exon_variant ESAD-UK 4 53494396 53494396 single base substitution G C intron_variant ESAD-UK 4 53495023 53495023 single base substitution A G downstream_gene_variant ESAD-UK 4 53495023 53495023 single base substitution A G intron_variant ESAD-UK 4 53495023 53495023 single base substitution A G upstream_gene_variant ESAD-UK 4 53496151 53496151 single base substitution A C downstream_gene_variant ESAD-UK 4 53496151 53496151 single base substitution A C intron_variant ESAD-UK 4 53496151 53496151 single base substitution A C upstream_gene_variant ESAD-UK 4 53499148 53499148 insertion of <=200bp - A intron_variant ESAD-UK 4 53499148 53499148 insertion of <=200bp - A upstream_gene_variant ESAD-UK 4 53501393 53501393 single base substitution G A intron_variant ESAD-UK 4 53501881 53501881 single base substitution C A intron_variant ESAD-UK 4 53504639 53504639 single base substitution A C intron_variant ESAD-UK 4 53504818 53504818 deletion of <=200bp T - intron_variant ESAD-UK 4 53508016 53508016 single base substitution G A intron_variant ESAD-UK 4 53508029 53508029 single base substitution G A intron_variant ESAD-UK 4 53508047 53508047 single base substitution G A intron_variant ESAD-UK 4 53508066 53508066 single base substitution G A intron_variant ESAD-UK 4 53508082 53508082 single base substitution G A intron_variant ESAD-UK 4 53508230 53508230 single base substitution G A intron_variant ESAD-UK 4 53508281 53508281 single base substitution G A intron_variant ESAD-UK 4 53508310 53508310 single base substitution G A intron_variant ESAD-UK 4 53508313 53508313 single base substitution G A intron_variant ESAD-UK 4 53508481 53508481 single base substitution G A intron_variant ESAD-UK 4 53508485 53508485 single base substitution G A intron_variant ESAD-UK 4 53511096 53511096 single base substitution C T intron_variant ESAD-UK 4 53513999 53513999 single base substitution C T intron_variant ESAD-UK 4 53516236 53516236 single base substitution C T intron_variant ESAD-UK 4 53520008 53520008 deletion of <=200bp A - intron_variant ESAD-UK 4 53523546 53523546 single base substitution G A intron_variant ESAD-UK 4 53523546 53523546 single base substitution G A upstream_gene_variant ESAD-UK 4 53523724 53523724 single base substitution T C intron_variant ESAD-UK 4 53523724 53523724 single base substitution T C upstream_gene_variant ESAD-UK 4 53523887 53523887 single base substitution T C intron_variant ESAD-UK 4 53523887 53523887 single base substitution T C upstream_gene_variant ESAD-UK 4 53524359 53524359 single base substitution G A 3_prime_UTR_variant ESAD-UK 4 53524359 53524359 single base substitution G A intron_variant ESAD-UK 4 53524359 53524359 single base substitution G A upstream_gene_variant ESAD-UK 4 53528145 53528145 single base substitution C G upstream_gene_variant ESAD-UK 4 53528439 53528439 single base substitution T G upstream_gene_variant ESAD-UK 4 53528819 53528819 single base substitution A G upstream_gene_variant ESCA-CN 4 53463803 53463803 single base substitution C A 3_prime_UTR_variant ESCA-CN 4 53463821 53463821 single base substitution A G 3_prime_UTR_variant ESCA-CN 4 53463821 53463821 single base substitution A G synonymous_variant Y335Y 1005T>C ESCA-CN 4 53463821 53463821 single base substitution A G synonymous_variant Y355Y 1065T>C ESCA-CN 4 53463821 53463821 single base substitution A G synonymous_variant Y362Y 1086T>C ESCA-CN 4 53522595 53522595 single base substitution T G 3_prime_UTR_variant ESCA-CN 4 53522595 53522595 single base substitution T G 5_prime_UTR_variant ESCA-CN 4 53522595 53522595 single base substitution T G exon_variant ESCA-CN 4 53522595 53522595 single base substitution T G intron_variant ESCA-CN 4 53522604 53522604 single base substitution T G 3_prime_UTR_variant ESCA-CN 4 53522604 53522604 single base substitution T G 5_prime_UTR_variant ESCA-CN 4 53522604 53522604 single base substitution T G exon_variant ESCA-CN 4 53522604 53522604 single base substitution T G intron_variant GBM-US 4 53468067 53468067 single base substitution C G 3_prime_UTR_variant GBM-US 4 53468067 53468067 single base substitution C G synonymous_variant L265L 795G>C GBM-US 4 53468067 53468067 single base substitution C G synonymous_variant L285L 855G>C GBM-US 4 53468067 53468067 single base substitution C G synonymous_variant L292L 876G>C KIRP-US 4 53492228 53492228 single base substitution T C 3_prime_UTR_variant KIRP-US 4 53492228 53492228 single base substitution T C downstream_gene_variant KIRP-US 4 53492228 53492228 single base substitution T C missense_variant Q146R 437A>G KIRP-US 4 53492228 53492228 single base substitution T C missense_variant Q166R 497A>G KIRP-US 4 53492228 53492228 single base substitution T C missense_variant Q173R 518A>G LAML-KR 4 53493994 53493994 single base substitution A T downstream_gene_variant LAML-KR 4 53493994 53493994 single base substitution A T intron_variant LAML-KR 4 53500460 53500460 single base substitution A G intron_variant LICA-CN 4 53468062 53468062 single base substitution C T 3_prime_UTR_variant LICA-CN 4 53468062 53468062 single base substitution C T missense_variant R267H 800G>A LICA-CN 4 53468062 53468062 single base substitution C T missense_variant R287H 860G>A LICA-CN 4 53468062 53468062 single base substitution C T missense_variant R294H 881G>A LICA-FR 4 53455050 53455050 single base substitution C G downstream_gene_variant LICA-FR 4 53457603 53457603 single base substitution A T 3_prime_UTR_variant LICA-FR 4 53457603 53457603 single base substitution A T downstream_gene_variant LICA-FR 4 53469827 53469827 single base substitution C A intron_variant LICA-FR 4 53470735 53470735 single base substitution T C 3_prime_UTR_variant LICA-FR 4 53470735 53470735 single base substitution T C synonymous_variant T191T 573A>G LICA-FR 4 53470735 53470735 single base substitution T C synonymous_variant T211T 633A>G LICA-FR 4 53470735 53470735 single base substitution T C synonymous_variant T218T 654A>G LICA-FR 4 53494286 53494286 single base substitution G A 3_prime_UTR_variant LICA-FR 4 53494286 53494286 single base substitution G A downstream_gene_variant LICA-FR 4 53494286 53494286 single base substitution G A exon_variant LICA-FR 4 53494286 53494286 single base substitution G A synonymous_variant Y27Y 81C>T LICA-FR 4 53494286 53494286 single base substitution G A synonymous_variant Y47Y 141C>T LICA-FR 4 53494286 53494286 single base substitution G A synonymous_variant Y54Y 162C>T LICA-FR 4 53501248 53501248 deletion of <=200bp T - intron_variant LICA-FR 4 53510905 53510906 deletion of <=200bp AA - intron_variant LICA-FR 4 53512773 53512773 deletion of <=200bp T - intron_variant LICA-FR 4 53524949 53524949 single base substitution A C intron_variant LICA-FR 4 53524949 53524949 single base substitution A C upstream_gene_variant LIHC-US 4 53494294 53494294 single base substitution C T 3_prime_UTR_variant LIHC-US 4 53494294 53494294 single base substitution C T downstream_gene_variant LIHC-US 4 53494294 53494294 single base substitution C T exon_variant LIHC-US 4 53494294 53494294 single base substitution C T missense_variant A25T 73G>A LIHC-US 4 53494294 53494294 single base substitution C T missense_variant A45T 133G>A LIHC-US 4 53494294 53494294 single base substitution C T missense_variant A52T 154G>A LINC-JP 4 53454298 53454298 single base substitution G C downstream_gene_variant LINC-JP 4 53457484 53457484 single base substitution T A 3_prime_UTR_variant LINC-JP 4 53457484 53457484 single base substitution T A downstream_gene_variant LINC-JP 4 53460940 53460940 single base substitution C T 3_prime_UTR_variant LINC-JP 4 53460940 53460940 single base substitution C T downstream_gene_variant LINC-JP 4 53463174 53463174 single base substitution G A 3_prime_UTR_variant LINC-JP 4 53463174 53463174 single base substitution G A downstream_gene_variant LINC-JP 4 53465047 53465047 single base substitution T C intron_variant LINC-JP 4 53495560 53495560 single base substitution A C downstream_gene_variant LINC-JP 4 53495560 53495560 single base substitution A C intron_variant LINC-JP 4 53495560 53495560 single base substitution A C upstream_gene_variant LINC-JP 4 53495660 53495660 single base substitution C T downstream_gene_variant LINC-JP 4 53495660 53495660 single base substitution C T intron_variant LINC-JP 4 53495660 53495660 single base substitution C T upstream_gene_variant LINC-JP 4 53508266 53508266 single base substitution A G intron_variant LINC-JP 4 53525949 53525949 single base substitution C T upstream_gene_variant LINC-JP 4 53526811 53526811 single base substitution G A upstream_gene_variant LIRI-JP 4 53454704 53454704 insertion of <=200bp - T downstream_gene_variant LIRI-JP 4 53457909 53457909 single base substitution C T 3_prime_UTR_variant LIRI-JP 4 53457909 53457909 single base substitution C T downstream_gene_variant LIRI-JP 4 53460687 53460687 single base substitution C G 3_prime_UTR_variant LIRI-JP 4 53460687 53460687 single base substitution C G downstream_gene_variant LIRI-JP 4 53461722 53461722 single base substitution C T 3_prime_UTR_variant LIRI-JP 4 53461722 53461722 single base substitution C T downstream_gene_variant LIRI-JP 4 53463434 53463434 insertion of <=200bp - A 3_prime_UTR_variant LIRI-JP 4 53463434 53463434 insertion of <=200bp - A downstream_gene_variant LIRI-JP 4 53463822 53463822 single base substitution T C 3_prime_UTR_variant LIRI-JP 4 53463822 53463822 single base substitution T C missense_variant Y335C 1004A>G LIRI-JP 4 53463822 53463822 single base substitution T C missense_variant Y355C 1064A>G LIRI-JP 4 53463822 53463822 single base substitution T C missense_variant Y362C 1085A>G LIRI-JP 4 53464055 53464055 single base substitution T A intron_variant LIRI-JP 4 53464240 53464240 single base substitution T A intron_variant LIRI-JP 4 53464844 53464844 single base substitution T C 3_prime_UTR_variant LIRI-JP 4 53464844 53464844 single base substitution T C missense_variant I290V 868A>G LIRI-JP 4 53464844 53464844 single base substitution T C missense_variant I310V 928A>G LIRI-JP 4 53464844 53464844 single base substitution T C missense_variant I317V 949A>G LIRI-JP 4 53468402 53468402 single base substitution C T intron_variant LIRI-JP 4 53468551 53468551 single base substitution T C intron_variant LIRI-JP 4 53471271 53471271 single base substitution T G intron_variant LIRI-JP 4 53489461 53489461 single base substitution G A downstream_gene_variant LIRI-JP 4 53489461 53489461 single base substitution G A intron_variant LIRI-JP 4 53490419 53490419 single base substitution G T downstream_gene_variant LIRI-JP 4 53490419 53490419 single base substitution G T intron_variant LIRI-JP 4 53493509 53493509 single base substitution T C downstream_gene_variant LIRI-JP 4 53493509 53493509 single base substitution T C intron_variant LIRI-JP 4 53495018 53495018 single base substitution A G downstream_gene_variant LIRI-JP 4 53495018 53495018 single base substitution A G intron_variant LIRI-JP 4 53495018 53495018 single base substitution A G upstream_gene_variant LIRI-JP 4 53497439 53497439 single base substitution C T intron_variant LIRI-JP 4 53497439 53497439 single base substitution C T upstream_gene_variant LIRI-JP 4 53499903 53499903 single base substitution T C intron_variant LIRI-JP 4 53500205 53500205 single base substitution T C intron_variant LIRI-JP 4 53508833 53508833 single base substitution T A intron_variant LIRI-JP 4 53511765 53511765 single base substitution A G intron_variant LIRI-JP 4 53514803 53514803 single base substitution T C intron_variant LIRI-JP 4 53518240 53518240 single base substitution G C intron_variant LIRI-JP 4 53521946 53521946 single base substitution T C intron_variant LIRI-JP 4 53522369 53522369 single base substitution T G intron_variant LIRI-JP 4 53524818 53524818 single base substitution T C intron_variant LIRI-JP 4 53524818 53524818 single base substitution T C upstream_gene_variant LIRI-JP 4 53527612 53527612 insertion of <=200bp - T upstream_gene_variant LUSC-KR 4 53457420 53457420 single base substitution T C 3_prime_UTR_variant LUSC-KR 4 53457420 53457420 single base substitution T C downstream_gene_variant LUSC-KR 4 53457594 53457594 single base substitution T C 3_prime_UTR_variant LUSC-KR 4 53457594 53457594 single base substitution T C downstream_gene_variant LUSC-KR 4 53458469 53458469 single base substitution T C 3_prime_UTR_variant LUSC-KR 4 53458469 53458469 single base substitution T C downstream_gene_variant LUSC-KR 4 53459620 53459620 single base substitution G A 3_prime_UTR_variant LUSC-KR 4 53459620 53459620 single base substitution G A downstream_gene_variant LUSC-KR 4 53459691 53459691 single base substitution G A 3_prime_UTR_variant LUSC-KR 4 53459691 53459691 single base substitution G A downstream_gene_variant LUSC-KR 4 53459731 53459731 single base substitution A G 3_prime_UTR_variant LUSC-KR 4 53459731 53459731 single base substitution A G downstream_gene_variant LUSC-KR 4 53463164 53463164 single base substitution G C 3_prime_UTR_variant LUSC-KR 4 53463164 53463164 single base substitution G C downstream_gene_variant LUSC-KR 4 53463566 53463566 single base substitution C T 3_prime_UTR_variant LUSC-KR 4 53463566 53463566 single base substitution C T downstream_gene_variant LUSC-KR 4 53463697 53463697 single base substitution G A 3_prime_UTR_variant LUSC-KR 4 53463697 53463697 single base substitution G A downstream_gene_variant LUSC-KR 4 53463763 53463763 single base substitution G T 3_prime_UTR_variant LUSC-KR 4 53465381 53465381 single base substitution T C intron_variant LUSC-KR 4 53468300 53468300 single base substitution G T intron_variant LUSC-KR 4 53469963 53469963 single base substitution G A intron_variant LUSC-KR 4 53472530 53472530 single base substitution T C intron_variant LUSC-KR 4 53473114 53473114 single base substitution C G intron_variant LUSC-KR 4 53474136 53474136 single base substitution A C intron_variant LUSC-KR 4 53475622 53475622 single base substitution T A intron_variant LUSC-KR 4 53481845 53481845 single base substitution C T intron_variant LUSC-KR 4 53492169 53492169 single base substitution C T downstream_gene_variant LUSC-KR 4 53492169 53492169 single base substitution C T intron_variant LUSC-KR 4 53496055 53496055 single base substitution C T downstream_gene_variant LUSC-KR 4 53496055 53496055 single base substitution C T intron_variant LUSC-KR 4 53496055 53496055 single base substitution C T upstream_gene_variant LUSC-KR 4 53498377 53498377 single base substitution C G intron_variant LUSC-KR 4 53498377 53498377 single base substitution C G upstream_gene_variant LUSC-KR 4 53499319 53499319 single base substitution C A intron_variant LUSC-KR 4 53499319 53499319 single base substitution C A upstream_gene_variant LUSC-KR 4 53501265 53501265 single base substitution G T intron_variant LUSC-KR 4 53503999 53503999 single base substitution C T intron_variant LUSC-KR 4 53504230 53504230 single base substitution C T intron_variant LUSC-KR 4 53504403 53504403 single base substitution G A intron_variant LUSC-KR 4 53504884 53504884 single base substitution C A intron_variant LUSC-KR 4 53507459 53507459 single base substitution T C intron_variant LUSC-KR 4 53508778 53508778 single base substitution C A intron_variant LUSC-KR 4 53511502 53511502 single base substitution G A intron_variant LUSC-KR 4 53515962 53515962 single base substitution T C intron_variant LUSC-KR 4 53517273 53517273 single base substitution A G intron_variant LUSC-KR 4 53518985 53518985 single base substitution T C intron_variant LUSC-US 4 53476783 53476783 single base substitution C G missense_variant V161L 481G>C LUSC-US 4 53476783 53476783 single base substitution C G missense_variant V181L 541G>C LUSC-US 4 53476783 53476783 single base substitution C G missense_variant V188L 562G>C LUSC-US 4 53476783 53476783 single base substitution C G splice_region_variant LUSC-US 4 53492340 53492340 single base substitution G A 3_prime_UTR_variant LUSC-US 4 53492340 53492340 single base substitution G A downstream_gene_variant LUSC-US 4 53492340 53492340 single base substitution G A exon_variant LUSC-US 4 53492340 53492340 single base substitution G A missense_variant L109F 325C>T LUSC-US 4 53492340 53492340 single base substitution G A missense_variant L129F 385C>T LUSC-US 4 53492340 53492340 single base substitution G A missense_variant L136F 406C>T LUSC-US 4 53497298 53497298 single base substitution G C 3_prime_UTR_variant LUSC-US 4 53497298 53497298 single base substitution G C exon_variant LUSC-US 4 53497298 53497298 single base substitution G C intron_variant LUSC-US 4 53497298 53497298 single base substitution G C missense_variant S10C 29C>G LUSC-US 4 53497298 53497298 single base substitution G C missense_variant S17C 50C>G LUSC-US 4 53497298 53497298 single base substitution G C upstream_gene_variant MALY-DE 4 53454337 53454337 single base substitution T A downstream_gene_variant MALY-DE 4 53456829 53456829 insertion of <=200bp - T downstream_gene_variant MALY-DE 4 53459959 53459959 single base substitution C T 3_prime_UTR_variant MALY-DE 4 53459959 53459959 single base substitution C T downstream_gene_variant MALY-DE 4 53470312 53470312 single base substitution G A intron_variant MALY-DE 4 53473683 53473683 single base substitution G A intron_variant MALY-DE 4 53485211 53485211 single base substitution A T intron_variant MALY-DE 4 53498872 53498872 single base substitution A G intron_variant MALY-DE 4 53498872 53498872 single base substitution A G upstream_gene_variant MALY-DE 4 53499242 53499242 single base substitution T G intron_variant MALY-DE 4 53499242 53499242 single base substitution T G upstream_gene_variant MALY-DE 4 53499725 53499725 single base substitution A C intron_variant MALY-DE 4 53505512 53505512 single base substitution G A intron_variant MELA-AU 4 53452994 53452994 single base substitution G A downstream_gene_variant MELA-AU 4 53453001 53453001 single base substitution C G downstream_gene_variant MELA-AU 4 53453492 53453492 single base substitution C T downstream_gene_variant MELA-AU 4 53453761 53453761 single base substitution G A downstream_gene_variant MELA-AU 4 53453830 53453830 single base substitution C T downstream_gene_variant MELA-AU 4 53454270 53454270 single base substitution G A downstream_gene_variant MELA-AU 4 53454614 53454614 single base substitution G A downstream_gene_variant MELA-AU 4 53456047 53456047 single base substitution G A downstream_gene_variant MELA-AU 4 53456314 53456314 single base substitution G A downstream_gene_variant MELA-AU 4 53456315 53456315 single base substitution G A downstream_gene_variant MELA-AU 4 53456464 53456464 single base substitution G A downstream_gene_variant MELA-AU 4 53456484 53456485 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 4 53456503 53456504 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 4 53458900 53458900 single base substitution G A 3_prime_UTR_variant MELA-AU 4 53458900 53458900 single base substitution G A downstream_gene_variant MELA-AU 4 53459189 53459189 single base substitution G A 3_prime_UTR_variant MELA-AU 4 53459189 53459189 single base substitution G A downstream_gene_variant MELA-AU 4 53459234 53459234 single base substitution G A 3_prime_UTR_variant MELA-AU 4 53459234 53459234 single base substitution G A downstream_gene_variant MELA-AU 4 53459351 53459351 single base substitution G A 3_prime_UTR_variant MELA-AU 4 53459351 53459351 single base substitution G A downstream_gene_variant MELA-AU 4 53459368 53459368 single base substitution G A 3_prime_UTR_variant MELA-AU 4 53459368 53459368 single base substitution G A downstream_gene_variant MELA-AU 4 53460068 53460068 single base substitution C T 3_prime_UTR_variant MELA-AU 4 53460068 53460068 single base substitution C T downstream_gene_variant MELA-AU 4 53460295 53460295 single base substitution T C 3_prime_UTR_variant MELA-AU 4 53460295 53460295 single base substitution T C downstream_gene_variant MELA-AU 4 53462082 53462082 single base substitution G A 3_prime_UTR_variant MELA-AU 4 53462082 53462082 single base substitution G A downstream_gene_variant MELA-AU 4 53462228 53462228 single base substitution G A 3_prime_UTR_variant MELA-AU 4 53462228 53462228 single base substitution G A downstream_gene_variant MELA-AU 4 53462977 53462977 single base substitution G A 3_prime_UTR_variant MELA-AU 4 53462977 53462977 single base substitution G A downstream_gene_variant MELA-AU 4 53463219 53463219 single base substitution G A 3_prime_UTR_variant MELA-AU 4 53463219 53463219 single base substitution G A downstream_gene_variant MELA-AU 4 53463334 53463334 single base substitution G A 3_prime_UTR_variant MELA-AU 4 53463334 53463334 single base substitution G A downstream_gene_variant MELA-AU 4 53463391 53463391 single base substitution T C 3_prime_UTR_variant MELA-AU 4 53463391 53463391 single base substitution T C downstream_gene_variant MELA-AU 4 53463410 53463410 single base substitution G A 3_prime_UTR_variant MELA-AU 4 53463410 53463410 single base substitution G A downstream_gene_variant MELA-AU 4 53464676 53464676 single base substitution G C intron_variant MELA-AU 4 53465226 53465226 single base substitution G A intron_variant MELA-AU 4 53465782 53465782 single base substitution G A intron_variant MELA-AU 4 53466342 53466342 single base substitution G A intron_variant MELA-AU 4 53466530 53466530 single base substitution C T intron_variant MELA-AU 4 53466542 53466542 single base substitution G C intron_variant MELA-AU 4 53466983 53466983 single base substitution G A intron_variant MELA-AU 4 53467074 53467074 single base substitution G A intron_variant MELA-AU 4 53469327 53469327 single base substitution G A intron_variant MELA-AU 4 53469516 53469516 single base substitution A G intron_variant MELA-AU 4 53469592 53469592 single base substitution G A intron_variant MELA-AU 4 53469747 53469747 single base substitution G A intron_variant MELA-AU 4 53469954 53469954 single base substitution G A intron_variant MELA-AU 4 53470037 53470037 single base substitution G A intron_variant MELA-AU 4 53470161 53470161 single base substitution T G intron_variant MELA-AU 4 53470453 53470453 single base substitution A G intron_variant MELA-AU 4 53470769 53470769 single base substitution C T intron_variant MELA-AU 4 53471107 53471107 single base substitution G A intron_variant MELA-AU 4 53471118 53471118 single base substitution C T intron_variant MELA-AU 4 53471764 53471764 single base substitution C T intron_variant MELA-AU 4 53472346 53472346 single base substitution A T intron_variant MELA-AU 4 53472437 53472437 single base substitution C A intron_variant MELA-AU 4 53472544 53472544 single base substitution G A intron_variant MELA-AU 4 53472797 53472797 single base substitution C T intron_variant MELA-AU 4 53473073 53473073 single base substitution G A intron_variant MELA-AU 4 53473135 53473135 single base substitution G A intron_variant MELA-AU 4 53473156 53473156 single base substitution G A intron_variant MELA-AU 4 53473283 53473283 single base substitution C T intron_variant MELA-AU 4 53474099 53474099 single base substitution C T intron_variant MELA-AU 4 53474960 53474960 single base substitution G A intron_variant MELA-AU 4 53474965 53474965 single base substitution C T intron_variant MELA-AU 4 53475075 53475075 single base substitution A G intron_variant MELA-AU 4 53475155 53475155 single base substitution A C intron_variant MELA-AU 4 53475206 53475206 single base substitution G A intron_variant MELA-AU 4 53475600 53475601 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 53475807 53475808 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 53476360 53476360 single base substitution G A intron_variant MELA-AU 4 53476863 53476863 single base substitution G A intron_variant MELA-AU 4 53477128 53477128 single base substitution G A intron_variant MELA-AU 4 53477333 53477333 single base substitution G A intron_variant MELA-AU 4 53477637 53477637 single base substitution T C intron_variant MELA-AU 4 53477651 53477651 single base substitution G A intron_variant MELA-AU 4 53477874 53477874 single base substitution G A intron_variant MELA-AU 4 53478100 53478100 single base substitution G A intron_variant MELA-AU 4 53478783 53478783 single base substitution G A intron_variant MELA-AU 4 53479323 53479323 single base substitution G A intron_variant MELA-AU 4 53479681 53479681 single base substitution G A intron_variant MELA-AU 4 53479762 53479762 single base substitution G A intron_variant MELA-AU 4 53479784 53479784 single base substitution G A intron_variant MELA-AU 4 53479877 53479877 single base substitution A T intron_variant MELA-AU 4 53479934 53479935 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 4 53480197 53480197 single base substitution T C intron_variant MELA-AU 4 53480243 53480243 single base substitution G A intron_variant MELA-AU 4 53480401 53480401 single base substitution G A intron_variant MELA-AU 4 53480461 53480461 single base substitution G A intron_variant MELA-AU 4 53480876 53480876 single base substitution A T intron_variant MELA-AU 4 53480949 53480949 single base substitution G A intron_variant MELA-AU 4 53481073 53481073 single base substitution C G intron_variant MELA-AU 4 53481186 53481186 single base substitution G A intron_variant MELA-AU 4 53481226 53481226 single base substitution G A intron_variant MELA-AU 4 53481635 53481635 single base substitution G A intron_variant MELA-AU 4 53482194 53482194 single base substitution G A intron_variant MELA-AU 4 53482789 53482789 single base substitution C T intron_variant MELA-AU 4 53482791 53482791 single base substitution C T intron_variant MELA-AU 4 53483868 53483868 single base substitution G A intron_variant MELA-AU 4 53484725 53484725 single base substitution G A intron_variant MELA-AU 4 53484739 53484739 single base substitution C T intron_variant MELA-AU 4 53485178 53485178 single base substitution G A intron_variant MELA-AU 4 53485467 53485467 single base substitution G A intron_variant MELA-AU 4 53486109 53486109 single base substitution G A intron_variant MELA-AU 4 53486166 53486166 single base substitution C T intron_variant MELA-AU 4 53486304 53486304 single base substitution A G intron_variant MELA-AU 4 53487111 53487111 single base substitution G A intron_variant MELA-AU 4 53487298 53487298 single base substitution A T downstream_gene_variant MELA-AU 4 53487298 53487298 single base substitution A T intron_variant MELA-AU 4 53487642 53487642 single base substitution G A downstream_gene_variant MELA-AU 4 53487642 53487642 single base substitution G A intron_variant MELA-AU 4 53488342 53488342 single base substitution G A downstream_gene_variant MELA-AU 4 53488342 53488342 single base substitution G A intron_variant MELA-AU 4 53488801 53488801 single base substitution G A downstream_gene_variant MELA-AU 4 53488801 53488801 single base substitution G A intron_variant MELA-AU 4 53488941 53488941 single base substitution G A downstream_gene_variant MELA-AU 4 53488941 53488941 single base substitution G A intron_variant MELA-AU 4 53489190 53489190 single base substitution G A downstream_gene_variant MELA-AU 4 53489190 53489190 single base substitution G A intron_variant MELA-AU 4 53489340 53489340 single base substitution G A downstream_gene_variant MELA-AU 4 53489340 53489340 single base substitution G A intron_variant MELA-AU 4 53489577 53489577 single base substitution T C downstream_gene_variant MELA-AU 4 53489577 53489577 single base substitution T C intron_variant MELA-AU 4 53489729 53489729 single base substitution A C downstream_gene_variant MELA-AU 4 53489729 53489729 single base substitution A C intron_variant MELA-AU 4 53489763 53489763 single base substitution A T downstream_gene_variant MELA-AU 4 53489763 53489763 single base substitution A T intron_variant MELA-AU 4 53489995 53489995 single base substitution G A downstream_gene_variant MELA-AU 4 53489995 53489995 single base substitution G A intron_variant MELA-AU 4 53490074 53490074 single base substitution G A downstream_gene_variant MELA-AU 4 53490074 53490074 single base substitution G A intron_variant MELA-AU 4 53490260 53490260 single base substitution G A downstream_gene_variant MELA-AU 4 53490260 53490260 single base substitution G A intron_variant MELA-AU 4 53490269 53490269 single base substitution G A downstream_gene_variant MELA-AU 4 53490269 53490269 single base substitution G A intron_variant MELA-AU 4 53490394 53490394 single base substitution G A downstream_gene_variant MELA-AU 4 53490394 53490394 single base substitution G A intron_variant MELA-AU 4 53490556 53490556 single base substitution C T downstream_gene_variant MELA-AU 4 53490556 53490556 single base substitution C T intron_variant MELA-AU 4 53490687 53490687 single base substitution G A downstream_gene_variant MELA-AU 4 53490687 53490687 single base substitution G A intron_variant MELA-AU 4 53490719 53490720 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 4 53490719 53490720 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 53490720 53490720 single base substitution G A downstream_gene_variant MELA-AU 4 53490720 53490720 single base substitution G A intron_variant MELA-AU 4 53490817 53490817 single base substitution G A downstream_gene_variant MELA-AU 4 53490817 53490817 single base substitution G A intron_variant MELA-AU 4 53490938 53490938 single base substitution G A downstream_gene_variant MELA-AU 4 53490938 53490938 single base substitution G A intron_variant MELA-AU 4 53491266 53491266 single base substitution G A downstream_gene_variant MELA-AU 4 53491266 53491266 single base substitution G A intron_variant MELA-AU 4 53492441 53492441 single base substitution G A downstream_gene_variant MELA-AU 4 53492441 53492441 single base substitution G A intron_variant MELA-AU 4 53492829 53492829 single base substitution G A downstream_gene_variant MELA-AU 4 53492829 53492829 single base substitution G A intron_variant MELA-AU 4 53493547 53493547 single base substitution G A downstream_gene_variant MELA-AU 4 53493547 53493547 single base substitution G A intron_variant MELA-AU 4 53494232 53494232 single base substitution C T 3_prime_UTR_variant MELA-AU 4 53494232 53494232 single base substitution C T downstream_gene_variant MELA-AU 4 53494232 53494232 single base substitution C T exon_variant MELA-AU 4 53494232 53494232 single base substitution C T synonymous_variant K45K 135G>A MELA-AU 4 53494232 53494232 single base substitution C T synonymous_variant K65K 195G>A MELA-AU 4 53494232 53494232 single base substitution C T synonymous_variant K72K 216G>A MELA-AU 4 53494764 53494764 single base substitution G A downstream_gene_variant MELA-AU 4 53494764 53494764 single base substitution G A intron_variant MELA-AU 4 53494764 53494764 single base substitution G A upstream_gene_variant MELA-AU 4 53494968 53494968 single base substitution G A downstream_gene_variant MELA-AU 4 53494968 53494968 single base substitution G A intron_variant MELA-AU 4 53494968 53494968 single base substitution G A upstream_gene_variant MELA-AU 4 53495557 53495557 single base substitution G A downstream_gene_variant MELA-AU 4 53495557 53495557 single base substitution G A intron_variant MELA-AU 4 53495557 53495557 single base substitution G A upstream_gene_variant MELA-AU 4 53496283 53496283 single base substitution G A downstream_gene_variant MELA-AU 4 53496283 53496283 single base substitution G A intron_variant MELA-AU 4 53496283 53496283 single base substitution G A upstream_gene_variant MELA-AU 4 53496494 53496494 single base substitution C T downstream_gene_variant MELA-AU 4 53496494 53496494 single base substitution C T intron_variant MELA-AU 4 53496494 53496494 single base substitution C T upstream_gene_variant MELA-AU 4 53496591 53496591 single base substitution G A downstream_gene_variant MELA-AU 4 53496591 53496591 single base substitution G A intron_variant MELA-AU 4 53496591 53496591 single base substitution G A upstream_gene_variant MELA-AU 4 53496940 53496940 single base substitution C T downstream_gene_variant MELA-AU 4 53496940 53496940 single base substitution C T intron_variant MELA-AU 4 53496940 53496940 single base substitution C T upstream_gene_variant MELA-AU 4 53496991 53496991 single base substitution C T downstream_gene_variant MELA-AU 4 53496991 53496991 single base substitution C T intron_variant MELA-AU 4 53496991 53496991 single base substitution C T upstream_gene_variant MELA-AU 4 53497493 53497493 single base substitution T C intron_variant MELA-AU 4 53497493 53497493 single base substitution T C upstream_gene_variant MELA-AU 4 53497589 53497589 single base substitution A G intron_variant MELA-AU 4 53497589 53497589 single base substitution A G upstream_gene_variant MELA-AU 4 53498171 53498171 single base substitution G A intron_variant MELA-AU 4 53498171 53498171 single base substitution G A upstream_gene_variant MELA-AU 4 53498208 53498208 single base substitution G A intron_variant MELA-AU 4 53498208 53498208 single base substitution G A upstream_gene_variant MELA-AU 4 53498354 53498354 single base substitution A G intron_variant MELA-AU 4 53498354 53498354 single base substitution A G upstream_gene_variant MELA-AU 4 53498431 53498431 single base substitution G A intron_variant MELA-AU 4 53498431 53498431 single base substitution G A upstream_gene_variant MELA-AU 4 53498899 53498899 single base substitution T C intron_variant MELA-AU 4 53498899 53498899 single base substitution T C upstream_gene_variant MELA-AU 4 53498983 53498983 single base substitution G A intron_variant MELA-AU 4 53498983 53498983 single base substitution G A upstream_gene_variant MELA-AU 4 53498984 53498984 single base substitution G A intron_variant MELA-AU 4 53498984 53498984 single base substitution G A upstream_gene_variant MELA-AU 4 53499058 53499058 single base substitution G A intron_variant MELA-AU 4 53499058 53499058 single base substitution G A upstream_gene_variant MELA-AU 4 53499250 53499250 single base substitution G A intron_variant MELA-AU 4 53499250 53499250 single base substitution G A upstream_gene_variant MELA-AU 4 53499379 53499379 single base substitution G A intron_variant MELA-AU 4 53499379 53499379 single base substitution G A upstream_gene_variant MELA-AU 4 53499812 53499813 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 53500573 53500573 single base substitution G A intron_variant MELA-AU 4 53500685 53500685 single base substitution A T intron_variant MELA-AU 4 53500776 53500776 single base substitution G A intron_variant MELA-AU 4 53501019 53501019 single base substitution G A intron_variant MELA-AU 4 53501657 53501657 single base substitution G T intron_variant MELA-AU 4 53502325 53502325 single base substitution G A intron_variant MELA-AU 4 53502524 53502524 single base substitution G A intron_variant MELA-AU 4 53502800 53502800 single base substitution G A intron_variant MELA-AU 4 53503012 53503012 single base substitution T C intron_variant MELA-AU 4 53503080 53503080 single base substitution G A intron_variant MELA-AU 4 53503196 53503196 single base substitution C T intron_variant MELA-AU 4 53504465 53504465 single base substitution G A intron_variant MELA-AU 4 53505669 53505669 single base substitution G A intron_variant MELA-AU 4 53505689 53505689 single base substitution G A intron_variant MELA-AU 4 53505762 53505762 single base substitution G A intron_variant MELA-AU 4 53505800 53505800 single base substitution G A intron_variant MELA-AU 4 53506232 53506232 single base substitution G A intron_variant MELA-AU 4 53506518 53506518 single base substitution C G intron_variant MELA-AU 4 53506728 53506728 single base substitution G A intron_variant MELA-AU 4 53507289 53507289 single base substitution G A intron_variant MELA-AU 4 53507650 53507650 single base substitution G A intron_variant MELA-AU 4 53507785 53507785 single base substitution G A intron_variant MELA-AU 4 53508370 53508370 single base substitution A T intron_variant MELA-AU 4 53509243 53509243 single base substitution G A intron_variant MELA-AU 4 53510697 53510698 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 4 53511600 53511600 single base substitution G A intron_variant MELA-AU 4 53511682 53511683 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 53511728 53511728 single base substitution G A intron_variant MELA-AU 4 53511874 53511874 single base substitution G A intron_variant MELA-AU 4 53512670 53512670 single base substitution C T intron_variant MELA-AU 4 53513149 53513150 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 53514049 53514049 single base substitution G A intron_variant MELA-AU 4 53514788 53514788 single base substitution G A intron_variant MELA-AU 4 53515976 53515976 single base substitution G A intron_variant MELA-AU 4 53517180 53517180 single base substitution G A exon_variant MELA-AU 4 53517180 53517180 single base substitution G A intron_variant MELA-AU 4 53519114 53519114 single base substitution C T intron_variant MELA-AU 4 53519783 53519783 single base substitution G A intron_variant MELA-AU 4 53519921 53519921 single base substitution C T intron_variant MELA-AU 4 53520016 53520016 single base substitution G A intron_variant MELA-AU 4 53520198 53520198 single base substitution C T intron_variant MELA-AU 4 53520704 53520704 single base substitution G A intron_variant MELA-AU 4 53521063 53521063 single base substitution G A intron_variant MELA-AU 4 53521990 53521990 single base substitution T C intron_variant MELA-AU 4 53522188 53522188 single base substitution C T intron_variant MELA-AU 4 53522577 53522577 single base substitution G A 3_prime_UTR_variant MELA-AU 4 53522577 53522577 single base substitution G A 5_prime_UTR_variant MELA-AU 4 53522577 53522577 single base substitution G A exon_variant MELA-AU 4 53522577 53522577 single base substitution G A intron_variant MELA-AU 4 53523204 53523204 single base substitution T C intron_variant MELA-AU 4 53523204 53523204 single base substitution T C upstream_gene_variant MELA-AU 4 53524231 53524231 single base substitution A G intron_variant MELA-AU 4 53524231 53524231 single base substitution A G upstream_gene_variant MELA-AU 4 53524264 53524264 single base substitution G A intron_variant MELA-AU 4 53524264 53524264 single base substitution G A upstream_gene_variant MELA-AU 4 53524402 53524402 single base substitution G A exon_variant MELA-AU 4 53524402 53524402 single base substitution G A intron_variant MELA-AU 4 53524402 53524402 single base substitution G A upstream_gene_variant MELA-AU 4 53526130 53526130 single base substitution G A upstream_gene_variant MELA-AU 4 53526300 53526300 single base substitution C T upstream_gene_variant MELA-AU 4 53526903 53526903 single base substitution C T upstream_gene_variant MELA-AU 4 53528455 53528455 single base substitution A G upstream_gene_variant MELA-AU 4 53528568 53528568 single base substitution C T upstream_gene_variant MELA-AU 4 53528577 53528577 single base substitution C T upstream_gene_variant MELA-AU 4 53528950 53528950 single base substitution C T upstream_gene_variant MELA-AU 4 53528976 53528976 single base substitution T C upstream_gene_variant MELA-AU 4 53528988 53528988 single base substitution G A upstream_gene_variant MELA-AU 4 53529359 53529359 single base substitution C T upstream_gene_variant MELA-AU 4 53529846 53529847 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 4 53530166 53530166 single base substitution C T upstream_gene_variant ORCA-IN 4 53463463 53463463 single base substitution G A 3_prime_UTR_variant ORCA-IN 4 53463463 53463463 single base substitution G A downstream_gene_variant ORCA-IN 4 53495990 53495990 single base substitution G C downstream_gene_variant ORCA-IN 4 53495990 53495990 single base substitution G C intron_variant ORCA-IN 4 53495990 53495990 single base substitution G C upstream_gene_variant ORCA-IN 4 53500137 53500137 single base substitution G A intron_variant OV-AU 4 53461131 53461131 single base substitution T G 3_prime_UTR_variant OV-AU 4 53461131 53461131 single base substitution T G downstream_gene_variant OV-AU 4 53468699 53468699 single base substitution C T intron_variant OV-AU 4 53471638 53471638 single base substitution G T intron_variant OV-AU 4 53478525 53478525 single base substitution G A intron_variant OV-AU 4 53480858 53480858 single base substitution G T intron_variant OV-AU 4 53492183 53492183 single base substitution A C downstream_gene_variant OV-AU 4 53492183 53492183 single base substitution A C splice_donor_variant OV-AU 4 53496452 53496452 single base substitution T C downstream_gene_variant OV-AU 4 53496452 53496452 single base substitution T C intron_variant OV-AU 4 53496452 53496452 single base substitution T C upstream_gene_variant OV-AU 4 53502622 53502622 single base substitution C A intron_variant OV-AU 4 53521248 53521248 single base substitution C T intron_variant PACA-AU 4 53453025 53453025 single base substitution A G downstream_gene_variant PACA-AU 4 53454331 53454331 deletion of <=200bp T - downstream_gene_variant PACA-AU 4 53456034 53456034 single base substitution C T downstream_gene_variant PACA-AU 4 53456617 53456619 deletion of <=200bp GAG - downstream_gene_variant PACA-AU 4 53466629 53466629 single base substitution A G intron_variant PACA-AU 4 53470670 53470670 single base substitution T G 3_prime_UTR_variant PACA-AU 4 53470670 53470670 single base substitution T G missense_variant K213T 638A>C PACA-AU 4 53470670 53470670 single base substitution T G missense_variant K233T 698A>C PACA-AU 4 53470670 53470670 single base substitution T G missense_variant K240T 719A>C PACA-AU 4 53471153 53471153 single base substitution G A intron_variant PACA-AU 4 53471191 53471191 single base substitution A C intron_variant PACA-AU 4 53478320 53478320 single base substitution A C intron_variant PACA-AU 4 53484119 53484119 insertion of <=200bp - T intron_variant PACA-AU 4 53498208 53498208 single base substitution G A intron_variant PACA-AU 4 53498208 53498208 single base substitution G A upstream_gene_variant PACA-AU 4 53505742 53505742 single base substitution G A intron_variant PACA-AU 4 53509732 53509732 single base substitution A G intron_variant PACA-AU 4 53511980 53511980 single base substitution G A intron_variant PACA-AU 4 53520800 53520800 single base substitution G T intron_variant PACA-AU 4 53520815 53520815 single base substitution G A intron_variant PACA-AU 4 53524301 53524301 single base substitution T G intron_variant PACA-AU 4 53524301 53524301 single base substitution T G upstream_gene_variant PACA-AU 4 53529190 53529190 single base substitution C T upstream_gene_variant PACA-AU 4 53530498 53530498 single base substitution G A upstream_gene_variant PACA-CA 4 53453056 53453056 single base substitution G A downstream_gene_variant PACA-CA 4 53455674 53455674 single base substitution G A downstream_gene_variant PACA-CA 4 53457264 53457264 single base substitution T A 3_prime_UTR_variant PACA-CA 4 53457264 53457264 single base substitution T A downstream_gene_variant PACA-CA 4 53468125 53468125 single base substitution C T 3_prime_UTR_variant PACA-CA 4 53468125 53468125 single base substitution C T missense_variant R246H 737G>A PACA-CA 4 53468125 53468125 single base substitution C T missense_variant R266H 797G>A PACA-CA 4 53468125 53468125 single base substitution C T missense_variant R273H 818G>A PACA-CA 4 53472387 53472387 single base substitution T C intron_variant PACA-CA 4 53478528 53478528 single base substitution T A intron_variant PACA-CA 4 53478859 53478859 single base substitution T C intron_variant PACA-CA 4 53482524 53482524 single base substitution C A intron_variant PACA-CA 4 53483046 53483046 single base substitution G T intron_variant PACA-CA 4 53484610 53484610 single base substitution T A intron_variant PACA-CA 4 53485285 53485285 single base substitution T G intron_variant PACA-CA 4 53487308 53487308 single base substitution G A downstream_gene_variant PACA-CA 4 53487308 53487308 single base substitution G A intron_variant PACA-CA 4 53490606 53490606 single base substitution C A downstream_gene_variant PACA-CA 4 53490606 53490606 single base substitution C A intron_variant PACA-CA 4 53495391 53495391 single base substitution G C downstream_gene_variant PACA-CA 4 53495391 53495391 single base substitution G C intron_variant PACA-CA 4 53495391 53495391 single base substitution G C upstream_gene_variant PACA-CA 4 53504817 53504817 single base substitution A T intron_variant PACA-CA 4 53506267 53506267 single base substitution T A intron_variant PACA-CA 4 53508993 53508993 single base substitution G C intron_variant PACA-CA 4 53514741 53514741 single base substitution A C intron_variant PACA-CA 4 53519021 53519021 single base substitution C T intron_variant PACA-CA 4 53522398 53522398 single base substitution G A intron_variant PACA-CA 4 53526417 53526417 single base substitution A G upstream_gene_variant PACA-CA 4 53528910 53528910 single base substitution G T upstream_gene_variant PAEN-AU 4 53499083 53499083 single base substitution A G intron_variant PAEN-AU 4 53499083 53499083 single base substitution A G upstream_gene_variant PAEN-IT 4 53452897 53452897 single base substitution G T downstream_gene_variant PAEN-IT 4 53465559 53465559 single base substitution C T intron_variant PAEN-IT 4 53520013 53520013 single base substitution A G intron_variant PBCA-DE 4 53454338 53454338 insertion of <=200bp - A downstream_gene_variant PBCA-DE 4 53455910 53455910 single base substitution G T downstream_gene_variant PBCA-DE 4 53456658 53456658 single base substitution A T downstream_gene_variant PBCA-DE 4 53470040 53470040 single base substitution G T intron_variant PBCA-DE 4 53474594 53474594 single base substitution C T intron_variant PBCA-DE 4 53490872 53490872 single base substitution A T downstream_gene_variant PBCA-DE 4 53490872 53490872 single base substitution A T intron_variant PBCA-DE 4 53492819 53492819 single base substitution G A downstream_gene_variant PBCA-DE 4 53492819 53492819 single base substitution G A intron_variant PBCA-DE 4 53499366 53499366 single base substitution C A intron_variant PBCA-DE 4 53499366 53499366 single base substitution C A upstream_gene_variant PBCA-DE 4 53501081 53501081 single base substitution C G intron_variant PBCA-DE 4 53523547 53523547 single base substitution C T intron_variant PBCA-DE 4 53523547 53523547 single base substitution C T upstream_gene_variant PBCA-DE 4 53524221 53524221 single base substitution G A intron_variant PBCA-DE 4 53524221 53524221 single base substitution G A upstream_gene_variant PBCA-DE 4 53525912 53525912 single base substitution G A upstream_gene_variant PRAD-UK 4 53487363 53487363 single base substitution C T downstream_gene_variant PRAD-UK 4 53487363 53487363 single base substitution C T intron_variant PRAD-UK 4 53502652 53502652 deletion of <=200bp A - intron_variant PRAD-UK 4 53504829 53504829 insertion of <=200bp - A intron_variant PRAD-UK 4 53504836 53504836 insertion of <=200bp - A intron_variant PRAD-UK 4 53520331 53520331 single base substitution G A intron_variant PRAD-US 4 53468062 53468062 single base substitution C A 3_prime_UTR_variant PRAD-US 4 53468062 53468062 single base substitution C A missense_variant R267L 800G>T PRAD-US 4 53468062 53468062 single base substitution C A missense_variant R287L 860G>T PRAD-US 4 53468062 53468062 single base substitution C A missense_variant R294L 881G>T READ-US 4 53468064 53468064 single base substitution G A 3_prime_UTR_variant READ-US 4 53468064 53468064 single base substitution G A synonymous_variant D266D 798C>T READ-US 4 53468064 53468064 single base substitution G A synonymous_variant D286D 858C>T READ-US 4 53468064 53468064 single base substitution G A synonymous_variant D293D 879C>T RECA-EU 4 53458808 53458808 single base substitution C G 3_prime_UTR_variant RECA-EU 4 53458808 53458808 single base substitution C G downstream_gene_variant RECA-EU 4 53461128 53461128 single base substitution A C 3_prime_UTR_variant RECA-EU 4 53461128 53461128 single base substitution A C downstream_gene_variant RECA-EU 4 53466162 53466162 single base substitution C A intron_variant RECA-EU 4 53472645 53472645 single base substitution G C intron_variant RECA-EU 4 53473210 53473210 single base substitution G C intron_variant RECA-EU 4 53501755 53501755 single base substitution C T intron_variant RECA-EU 4 53509101 53509101 single base substitution G C intron_variant RECA-EU 4 53514953 53514953 single base substitution C T intron_variant RECA-EU 4 53518439 53518439 single base substitution C T intron_variant RECA-EU 4 53520442 53520442 single base substitution T C intron_variant RECA-EU 4 53520470 53520470 single base substitution G T intron_variant RECA-EU 4 53529179 53529179 single base substitution A G upstream_gene_variant SKCA-BR 4 53452704 53452704 single base substitution T C downstream_gene_variant SKCA-BR 4 53454075 53454075 single base substitution G A downstream_gene_variant SKCA-BR 4 53454728 53454728 single base substitution G A downstream_gene_variant SKCA-BR 4 53456307 53456307 single base substitution G A downstream_gene_variant SKCA-BR 4 53459246 53459246 single base substitution G A 3_prime_UTR_variant SKCA-BR 4 53459246 53459246 single base substitution G A downstream_gene_variant SKCA-BR 4 53460256 53460256 single base substitution A C 3_prime_UTR_variant SKCA-BR 4 53460256 53460256 single base substitution A C downstream_gene_variant SKCA-BR 4 53462755 53462755 single base substitution G A 3_prime_UTR_variant SKCA-BR 4 53462755 53462755 single base substitution G A downstream_gene_variant SKCA-BR 4 53471368 53471368 single base substitution T C intron_variant SKCA-BR 4 53473720 53473720 single base substitution G A intron_variant SKCA-BR 4 53485732 53485732 single base substitution T A intron_variant SKCA-BR 4 53488030 53488030 single base substitution A C downstream_gene_variant SKCA-BR 4 53488030 53488030 single base substitution A C intron_variant SKCA-BR 4 53490475 53490475 single base substitution A G downstream_gene_variant SKCA-BR 4 53490475 53490475 single base substitution A G intron_variant SKCA-BR 4 53490725 53490725 single base substitution A T downstream_gene_variant SKCA-BR 4 53490725 53490725 single base substitution A T intron_variant SKCA-BR 4 53491681 53491681 single base substitution C A downstream_gene_variant SKCA-BR 4 53491681 53491681 single base substitution C A intron_variant SKCA-BR 4 53492431 53492431 single base substitution G A downstream_gene_variant SKCA-BR 4 53492431 53492431 single base substitution G A intron_variant SKCA-BR 4 53494599 53494599 single base substitution T A downstream_gene_variant SKCA-BR 4 53494599 53494599 single base substitution T A intron_variant SKCA-BR 4 53494599 53494599 single base substitution T A upstream_gene_variant SKCA-BR 4 53499046 53499050 deletion of <=200bp AAAGG - intron_variant SKCA-BR 4 53499046 53499050 deletion of <=200bp AAAGG - upstream_gene_variant SKCA-BR 4 53499083 53499085 deletion of <=200bp AAG - intron_variant SKCA-BR 4 53499083 53499085 deletion of <=200bp AAG - upstream_gene_variant SKCA-BR 4 53499085 53499085 insertion of <=200bp - GAGAAAGAAAGAA intron_variant SKCA-BR 4 53499085 53499085 insertion of <=200bp - GAGAAAGAAAGAA upstream_gene_variant SKCA-BR 4 53499151 53499157 deletion of <=200bp GAAAAGA - intron_variant SKCA-BR 4 53499151 53499157 deletion of <=200bp GAAAAGA - upstream_gene_variant SKCA-BR 4 53499156 53499156 insertion of <=200bp - GAAA intron_variant SKCA-BR 4 53499156 53499156 insertion of <=200bp - GAAA upstream_gene_variant SKCA-BR 4 53499161 53499161 insertion of <=200bp - GA intron_variant SKCA-BR 4 53499161 53499161 insertion of <=200bp - GA upstream_gene_variant SKCA-BR 4 53500525 53500525 single base substitution A C intron_variant SKCA-BR 4 53500937 53500937 single base substitution C T intron_variant SKCA-BR 4 53502063 53502063 single base substitution G A intron_variant SKCA-BR 4 53511646 53511646 single base substitution G A intron_variant SKCA-BR 4 53515065 53515065 single base substitution G C intron_variant SKCA-BR 4 53519839 53519839 single base substitution A T intron_variant SKCA-BR 4 53524750 53524750 single base substitution T C intron_variant SKCA-BR 4 53524750 53524750 single base substitution T C upstream_gene_variant SKCA-BR 4 53525864 53525864 single base substitution A G upstream_gene_variant SKCA-BR 4 53526869 53526869 single base substitution T C upstream_gene_variant SKCA-BR 4 53530133 53530133 single base substitution A T upstream_gene_variant SKCM-US 4 53468187 53468187 single base substitution G A 3_prime_UTR_variant SKCM-US 4 53468187 53468187 single base substitution G A synonymous_variant A225A 675C>T SKCM-US 4 53468187 53468187 single base substitution G A synonymous_variant A245A 735C>T SKCM-US 4 53468187 53468187 single base substitution G A synonymous_variant A252A 756C>T SKCM-US 4 53476724 53476724 single base substitution G A 3_prime_UTR_variant SKCM-US 4 53476724 53476724 single base substitution G A synonymous_variant S180S 540C>T SKCM-US 4 53476724 53476724 single base substitution G A synonymous_variant S200S 600C>T SKCM-US 4 53476724 53476724 single base substitution G A synonymous_variant S207S 621C>T SKCM-US 4 53494232 53494232 single base substitution C T 3_prime_UTR_variant SKCM-US 4 53494232 53494232 single base substitution C T downstream_gene_variant SKCM-US 4 53494232 53494232 single base substitution C T exon_variant SKCM-US 4 53494232 53494232 single base substitution C T synonymous_variant K45K 135G>A SKCM-US 4 53494232 53494232 single base substitution C T synonymous_variant K65K 195G>A SKCM-US 4 53494232 53494232 single base substitution C T synonymous_variant K72K 216G>A SKCM-US 4 53494304 53494304 single base substitution G A 3_prime_UTR_variant SKCM-US 4 53494304 53494304 single base substitution G A downstream_gene_variant SKCM-US 4 53494304 53494304 single base substitution G A exon_variant SKCM-US 4 53494304 53494304 single base substitution G A synonymous_variant S21S 63C>T SKCM-US 4 53494304 53494304 single base substitution G A synonymous_variant S41S 123C>T SKCM-US 4 53494304 53494304 single base substitution G A synonymous_variant S48S 144C>T STAD-US 4 53468063 53468063 single base substitution G A 3_prime_UTR_variant STAD-US 4 53468063 53468063 single base substitution G A missense_variant R267C 799C>T STAD-US 4 53468063 53468063 single base substitution G A missense_variant R287C 859C>T STAD-US 4 53468063 53468063 single base substitution G A missense_variant R294C 880C>T STAD-US 4 53492381 53492381 single base substitution T C 3_prime_UTR_variant STAD-US 4 53492381 53492381 single base substitution T C downstream_gene_variant STAD-US 4 53492381 53492381 single base substitution T C exon_variant STAD-US 4 53492381 53492381 single base substitution T C missense_variant H115R 344A>G STAD-US 4 53492381 53492381 single base substitution T C missense_variant H122R 365A>G STAD-US 4 53492381 53492381 single base substitution T C missense_variant H95R 284A>G STAD-US 4 53494163 53494163 single base substitution G A 3_prime_UTR_variant STAD-US 4 53494163 53494163 single base substitution G A downstream_gene_variant STAD-US 4 53494163 53494163 single base substitution G A exon_variant STAD-US 4 53494163 53494163 single base substitution G A synonymous_variant G68G 204C>T STAD-US 4 53494163 53494163 single base substitution G A synonymous_variant G88G 264C>T STAD-US 4 53494163 53494163 single base substitution G A synonymous_variant G95G 285C>T THCA-SA 4 53457270 53457270 single base substitution C A 3_prime_UTR_variant THCA-SA 4 53457270 53457270 single base substitution C A downstream_gene_variant THCA-SA 4 53457959 53457959 single base substitution G A 3_prime_UTR_variant THCA-SA 4 53457959 53457959 single base substitution G A downstream_gene_variant THCA-SA 4 53459563 53459563 single base substitution G A 3_prime_UTR_variant THCA-SA 4 53459563 53459563 single base substitution G A downstream_gene_variant THCA-SA 4 53459731 53459731 single base substitution A G 3_prime_UTR_variant THCA-SA 4 53459731 53459731 single base substitution A G downstream_gene_variant THCA-SA 4 53460745 53460745 single base substitution C T 3_prime_UTR_variant THCA-SA 4 53460745 53460745 single base substitution C T downstream_gene_variant THCA-SA 4 53461980 53461980 single base substitution A T 3_prime_UTR_variant THCA-SA 4 53461980 53461980 single base substitution A T downstream_gene_variant THCA-SA 4 53463164 53463164 single base substitution G C 3_prime_UTR_variant THCA-SA 4 53463164 53463164 single base substitution G C downstream_gene_variant THCA-SA 4 53463566 53463566 single base substitution C T 3_prime_UTR_variant THCA-SA 4 53463566 53463566 single base substitution C T downstream_gene_variant THCA-SA 4 53522550 53522550 single base substitution T G 3_prime_UTR_variant THCA-SA 4 53522550 53522550 single base substitution T G 5_prime_UTR_variant THCA-SA 4 53522550 53522550 single base substitution T G exon_variant THCA-SA 4 53522550 53522550 single base substitution T G intron_variant THCA-US 4 53492228 53492228 single base substitution T C 3_prime_UTR_variant THCA-US 4 53492228 53492228 single base substitution T C downstream_gene_variant THCA-US 4 53492228 53492228 single base substitution T C missense_variant Q146R 437A>G THCA-US 4 53492228 53492228 single base substitution T C missense_variant Q166R 497A>G THCA-US 4 53492228 53492228 single base substitution T C missense_variant Q173R 518A>G UCEC-US 4 53463854 53463854 single base substitution T C 3_prime_UTR_variant UCEC-US 4 53463854 53463854 single base substitution T C synonymous_variant S324S 972A>G UCEC-US 4 53463854 53463854 single base substitution T C synonymous_variant S344S 1032A>G UCEC-US 4 53463854 53463854 single base substitution T C synonymous_variant S351S 1053A>G UCEC-US 4 53463866 53463866 single base substitution C T 3_prime_UTR_variant UCEC-US 4 53463866 53463866 single base substitution C T synonymous_variant T320T 960G>A UCEC-US 4 53463866 53463866 single base substitution C T synonymous_variant T340T 1020G>A UCEC-US 4 53463866 53463866 single base substitution C T synonymous_variant T347T 1041G>A UCEC-US 4 53463883 53463883 single base substitution C A 3_prime_UTR_variant UCEC-US 4 53463883 53463883 single base substitution C A stop_gained E315* 943G>T UCEC-US 4 53463883 53463883 single base substitution C A stop_gained E335* 1003G>T UCEC-US 4 53463883 53463883 single base substitution C A stop_gained E342* 1024G>T UCEC-US 4 53464861 53464861 single base substitution C T 3_prime_UTR_variant UCEC-US 4 53464861 53464861 single base substitution C T missense_variant R284H 851G>A UCEC-US 4 53464861 53464861 single base substitution C T missense_variant R304H 911G>A UCEC-US 4 53464861 53464861 single base substitution C T missense_variant R311H 932G>A UCEC-US 4 53468044 53468044 single base substitution G A 3_prime_UTR_variant UCEC-US 4 53468044 53468044 single base substitution G A missense_variant A273V 818C>T UCEC-US 4 53468044 53468044 single base substitution G A missense_variant A293V 878C>T UCEC-US 4 53468044 53468044 single base substitution G A missense_variant A300V 899C>T UCEC-US 4 53468126 53468126 single base substitution G A 3_prime_UTR_variant UCEC-US 4 53468126 53468126 single base substitution G A missense_variant R246C 736C>T UCEC-US 4 53468126 53468126 single base substitution G A missense_variant R266C 796C>T UCEC-US 4 53468126 53468126 single base substitution G A missense_variant R273C 817C>T UCEC-US 4 53468174 53468174 single base substitution G A 3_prime_UTR_variant UCEC-US 4 53468174 53468174 single base substitution G A missense_variant R230W 688C>T UCEC-US 4 53468174 53468174 single base substitution G A missense_variant R250W 748C>T UCEC-US 4 53468174 53468174 single base substitution G A missense_variant R257W 769C>T UCEC-US 4 53494169 53494171 deletion of <=200bp CTT - 3_prime_UTR_variant UCEC-US 4 53494169 53494171 deletion of <=200bp CTT - downstream_gene_variant UCEC-US 4 53494169 53494171 deletion of <=200bp CTT - exon_variant UCEC-US 4 53494169 53494171 deletion of <=200bp CTT - inframe_deletion K66 UCEC-US 4 53494169 53494171 deletion of <=200bp CTT - inframe_deletion K86 UCEC-US 4 53494169 53494171 deletion of <=200bp CTT - inframe_deletion K93

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-24-1423-01 COSM73234 c.623T>C p.I208T Substitution - Missense 4:52610556-52610556 - CHC2099T COSM4793303 c.654A>G p.T218T Substitution - coding silent 4:52604569-52604569 - PT08_2 COSM5893021 c.842G>A p.R281Q Substitution - Missense 4:52601935-52601935 - S02273 COSM5682053 c.324A>G p.K108K Substitution - coding silent 4:52627957-52627957 - T3174 COSM4125073 c.880C>T p.R294C Substitution - Missense 4:52601897-52601897 - LUAD-YINHD COSM351038 c.1083C>T p.F361F Substitution - coding silent 4:52597658-52597658 - TCGA-D1-A103-01 COSM1055961 c.769C>T p.R257W Substitution - Missense 4:52602008-52602008 - ESO-0023 COSM1270097 c.750C>T p.I250I Substitution - coding silent 4:52602027-52602027 - CHC2099T COSM4793303 c.654A>G p.T218T Substitution - coding silent 4:52604569-52604569 - TCGA-DJ-A2Q9-01 COSM3373509 c.518A>G p.Q173R Substitution - Missense 4:52626061-52626061 - TCGA-CG-5721-01 COSM4125073 c.880C>T p.R294C Substitution - Missense 4:52601897-52601897 - TCGA-EI-6507-01 COSM1567318 c.879C>T p.D293D Substitution - coding silent 4:52601898-52601898 - RKO COSM3301071 c.804C>T p.T268T Substitution - coding silent 4:52601973-52601973 - TCGA-AP-A059-01 COSM1055956 c.1041G>A p.T347T Substitution - coding silent 4:52597700-52597700 - TCGA-A6-6653-01 COSM1430016 c.452delA p.N151fs*4 Deletion - Frameshift 4:52626127-52626127 - 1953_T COSM3946425 c.347A>G p.Y116C Substitution - Missense 4:52626232-52626232 - TCGA-CH-5745-01 COSM3783811 c.881G>T p.R294L Substitution - Missense 4:52601896-52601896 - ESCC-237T COSM3940897 c.1086T>C p.Y362Y Substitution - coding silent 4:52597655-52597655 - TCGA-AP-A051-01 COSM1055960 c.817C>T p.R273C Substitution - Missense 4:52601960-52601960 - TCGA-CA-6717-01 COSM1430015 c.957A>C p.K319N Substitution - Missense 4:52598670-52598670 - YUKAT COSM5401314 c.72T>C p.G24G Substitution - coding silent 4:52631109-52631109 - CSCC-29-T COSM4485691 c.295C>T p.P99S Substitution - Missense 4:52627986-52627986 - CSCC-45-T COSM4558528 c.770G>C p.R257P Substitution - Missense 4:52602007-52602007 - TCGA-13-0762-01 COSM111421 c.384delG p.L128fs*2 Deletion - Frameshift 4:52626195-52626195 - TCGA-BR-4257-01 COSM4125074 c.365A>G p.H122R Substitution - Missense 4:52626214-52626214 - TCGA-BR-4184-01 COSM4125075 c.285C>T p.G95G Substitution - coding silent 4:52627996-52627996 - TCGA-B5-A0JV-01 COSM1055962 c.524C>T p.T175M Substitution - Missense 4:52626055-52626055 - YURISA COSM5401312 c.336C>T p.L112L Substitution - coding silent 4:52626243-52626243 - EGC3 COSM5060385 c.570C>T p.S190S Substitution - coding silent 4:52610609-52610609 - BCM439T COSM4951900 c.162C>T p.Y54Y Substitution - coding silent 4:52628119-52628119 - Pat_05_A COSM5866506 c.964G>A p.G322S Substitution - Missense 4:52598663-52598663 - LUAD-LIP77 COSM342487 c.412G>A p.E138K Substitution - Missense 4:52626167-52626167 - TCGA-G3-A25W-01 COSM4927362 c.154G>A p.A52T Substitution - Missense 4:52628127-52628127 - TCGA-18-3409-01 COSM734203 c.562G>C p.V188L Substitution - Missense 4:52610617-52610617 - SJHGG034_D COSM4970636 c.178C>T p.R60W Substitution - Missense 4:52628103-52628103 - 587376 COSM1232084 c.764T>G p.L255R Substitution - Missense 4:52602013-52602013 - 2293776 COSM4607865 c.530C>A p.T177N Substitution - Missense 4:52626049-52626049 - TCGA-DI-A0WH-01 COSM1055963 c.484A>G p.K162E Substitution - Missense 4:52626095-52626095 - BD227T COSM5517960 c.155C>A p.A52E Substitution - Missense 4:52628126-52628126 - TCGA-AP-A056-01 COSM1055955 c.1053A>G p.S351S Substitution - coding silent 4:52597688-52597688 - TCGA-EE-A29S-06 COSM3604435 c.144C>T p.S48S Substitution - coding silent 4:52628137-52628137 - TCGA-EE-A2M5-06 COSM3604434 c.216G>A p.K72K Substitution - coding silent 4:52628065-52628065 - AOCS-145-1-6 COSM4135806 c.561+2T>G p.? Unknown 4:52626016-52626016 - TCGA-18-5592-01 COSM734202 c.406C>T p.L136F Substitution - Missense 4:52626173-52626173 - 61 COSM5736966 c.36+2T>C p.? Unknown 4:52659113-52659113 - ICC009T COSM3301070 c.881G>A p.R294H Substitution - Missense 4:52601896-52601896 - TCGA-AG-3892-01 COSM258339 c.931C>T p.R311C Substitution - Missense 4:52598696-52598696 - TCGA-B5-A11Y-01 COSM1055959 c.899C>T p.A300V Substitution - Missense 4:52601878-52601878 - PCSI_0098_Pa_P_526 COSM3380942 c.818G>A p.R273H Substitution - Missense 4:52601959-52601959 - DN14067 COSM5960669 c.1012C>G p.Q338E Substitution - Missense 4:52597729-52597729 - PD9416a COSM3720528 c.877G>A p.D293N Substitution - Missense 4:52601900-52601900 - 8067507 COSM4389311 c.719A>C p.K240T Substitution - Missense 4:52604504-52604504 - T3064 COSM4739870 c.1073A>T p.Y358F Substitution - Missense 4:52597668-52597668 - LUAD-NYU284 COSM373153 c.712G>C p.A238P Substitution - Missense 4:52604511-52604511 - TCGA-B1-A657-01 COSM3373509 c.518A>G p.Q173R Substitution - Missense 4:52626061-52626061 - Pat_32_B COSM5866508 c.841C>T p.R281W Substitution - Missense 4:52601936-52601936 - ESO-151 COSM1270099 c.286G>A p.V96I Substitution - Missense 4:52627995-52627995 - T3498 COSM4739871 c.232A>G p.T78A Substitution - Missense 4:52628049-52628049 - PT23_1 COSM5902722 c.118-5G>A p.? Unknown 4:52628168-52628168 - CSCC-20-T COSM4447437 c.37-3T>A p.? Unknown 4:52631147-52631147 - TCGA-A2-A04R-01 COSM447927 c.864T>C p.D288D Substitution - coding silent 4:52601913-52601913 - TCGA-FW-A3R5-06 COSM3917906 c.621C>T p.S207S Substitution - coding silent 4:52610558-52610558 - PCSI_0098_Pa_P COSM3380942 c.818G>A p.R273H Substitution - Missense 4:52601959-52601959 - TCGA-60-2698-01 COSM734201 c.50C>G p.S17C Substitution - Missense 4:52631131-52631131 - TCGA-27-1835-01 COSM3409352 c.876G>C p.L292L Substitution - coding silent 4:52601901-52601901 - SNU-175 COSM3301075 c.466G>A p.E156K Substitution - Missense 4:52626113-52626113 - PT08_1 COSM5893021 c.842G>A p.R281Q Substitution - Missense 4:52601935-52601935 - Pat_05_B COSM5866506 c.964G>A p.G322S Substitution - Missense 4:52598663-52598663 - RK261_C02 COSM4943991 c.1085A>G p.Y362C Substitution - Missense 4:52597656-52597656 - TCGA-A2-A3XZ-01 COSM3825965 c.849C>T p.F283F Substitution - coding silent 4:52601928-52601928 - TCGA-CM-4743-01 COSM1430019 c.117+2T>C p.? Unknown 4:52631062-52631062 - 345480 COSM3726244 c.39C>T p.G13G Substitution - coding silent 4:52631142-52631142 - TCGA-F5-6813-01 COSM5080494 c.921-4C>A p.? Unknown 4:52598710-52598710 - TCGA-AP-A0LG-01 COSM1055964 c.277_279delAAG p.K93delK Deletion - In frame 4:52628002-52628004 - TCGA-CA-6717-01 COSM1430017 c.300G>T p.K100N Substitution - Missense 4:52627981-52627981 - RK170_C01 COSM1633712 c.949A>G p.I317V Substitution - Missense 4:52598678-52598678 - TCGA-BH-A1EV-01 COSM447928 c.508G>A p.E170K Substitution - Missense 4:52626071-52626071 - TCGA-BS-A0UF-01 COSM1055957 c.1024G>T p.E342* Substitution - Nonsense 4:52597717-52597717 - TCGA-LP-A4AV-01 COSM4825230 c.475G>C p.E159Q Substitution - Missense 4:52626104-52626104 - TCGA-AP-A0LM-01 COSM1055958 c.932G>A p.R311H Substitution - Missense 4:52598695-52598695 - TCGA-EE-A2GI-06 COSM3604433 c.756C>T p.A252A Substitution - coding silent 4:52602021-52602021 - ESO-1059 COSM1270098 c.241G>A p.A81T Substitution - Missense 4:52628040-52628040 - BCM439T COSM4951900 c.162C>T p.Y54Y Substitution - coding silent 4:52628119-52628119 - TCGA-AZ-6601-01 COSM1430018 c.202G>A p.A68T Substitution - Missense 4:52628079-52628079 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.7966 4q12 612849

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.I208T c.623T>C 4 53476722 OV A G Synonymous p.D288D c.864T>C 4 53468079 BRCA C A Missense p.K72N c.216G>T 4 53494232 LUAD C A Missense p.L64F c.192G>T 4 53494256 HNSC C - Frameshift p.L128Ffs*2 c.384delG 4 53492362 OV C G Missense p.D82H c.244G>C 4 53494204 CM C G Synonymous p.L292L c.876G>C 4 53468067 GBM C T Missense p.A81T c.241G>A 4 53494207 ESCA C T Missense p.E170K c.508G>A 4 53492238 BRCA C T Missense p.E224K c.670G>A 4 53470719 HNSC C T Synonymous p.K72K c.216G>A 4 53494232 CM CTT - InFrameDeletion p.K93delK c.277_279delAAG 4 53494169 UCEC G A Missense p.A300V c.899C>T 4 53468044 UCEC G A Missense p.L136F c.406C>T 4 53492340 LUSC G A Nonsense p.Q173* c.517C>T 4 53492229 CM G A Synonymous p.A252A c.756C>T 4 53468187 CM G A Synonymous p.I250I c.750C>T 4 53468193 ESCA G A Synonymous p.L282L c.846C>T 4 53468097 CM G A Synonymous p.S48S c.144C>T 4 53494304 CM G C Missense p.L112V c.334C>G 4 53492412 HNSC T A Missense p.R243W c.727A>T 4 53468216 LUAD T C Missense p.H122R c.365A>G 4 53492381 STAD T C Missense p.Q173R c.518A>G 4 53492228 THCA