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 BRCA 7 151093174 151093174 + Missense_Mutation SNP G G T TCGA-OL-A5S0-01A-11D-A28B-09 TCGA-OL-A5S0-10A-01D-A28E-09 g.chr7:151093174G>T c.414C>A c.(412-414)aaC>aaA p.N138K BRCA 7 151093204 151093204 + Silent SNP C C T TCGA-A1-A0SE-01A-11D-A099-09 TCGA-A1-A0SE-10A-03D-A099-09 g.chr7:151093204C>T c.384G>A c.(382-384)caG>caA p.Q128Q COAD 7 151082183 151082183 + Missense_Mutation SNP C C T TCGA-CM-6163-01A-11D-1650-10 TCGA-CM-6163-10A-01D-1650-10 g.chr7:151082183C>T c.853G>A c.(853-855)Gcg>Acg p.A285T COAD 7 151093009 151093009 + Silent SNP C C T TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr7:151093009C>T c.579G>A c.(577-579)acG>acA p.T193T COAD 7 151093119 151093119 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:151093119C>T c.469G>A c.(469-471)Gcg>Acg p.A157T COAD 7 151106527 151106527 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr7:151106527C>T c.149G>A c.(148-150)tGc>tAc p.C50Y COADREAD 7 151082183 151082183 + Missense_Mutation SNP C C T TCGA-CM-6163-01A-11D-1650-10 TCGA-CM-6163-10A-01D-1650-10 g.chr7:151082183C>T c.853G>A c.(853-855)Gcg>Acg p.A285T COADREAD 7 151093009 151093009 + Silent SNP C C T TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr7:151093009C>T c.579G>A c.(577-579)acG>acA p.T193T COADREAD 7 151093102 151093102 + Silent SNP G G A TCGA-CI-6621-01A-11D-1826-10 TCGA-CI-6621-10A-01D-1826-10 g.chr7:151093102G>A c.486C>T c.(484-486)gcC>gcT p.A162A COADREAD 7 151093119 151093119 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:151093119C>T c.469G>A c.(469-471)Gcg>Acg p.A157T COADREAD 7 151093140 151093140 + Frame_Shift_Del DEL C C - TCGA-AG-A01W-01A-21W-A096-10 TCGA-AG-A01W-11A-11W-A096-10 g.chr7:151093140delC c.448delG c.(448-450)gacfs p.D150fs COADREAD 7 151097322 151097322 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:151097322C>T c.169G>A c.(169-171)Gaa>Aaa p.E57K COADREAD 7 151106527 151106527 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr7:151106527C>T c.149G>A c.(148-150)tGc>tAc p.C50Y GBM 7 151093239 151093239 + Missense_Mutation SNP G G A TCGA-06-0644-01A-02D-1492-08 TCGA-06-0644-10A-01D-1492-08 g.chr7:151093239G>A c.349C>T c.(349-351)Cgg>Tgg p.R117W GBM 7 151097266 151097266 + Silent SNP G G A TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 g.chr7:151097266G>A c.225C>T c.(223-225)gcC>gcT p.A75A GBMLGG 7 151093239 151093239 + Missense_Mutation SNP G G A TCGA-06-0644-01A-02D-1492-08 TCGA-06-0644-10A-01D-1492-08 g.chr7:151093239G>A c.349C>T c.(349-351)Cgg>Tgg p.R117W GBMLGG 7 151097266 151097266 + Silent SNP G G A TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 g.chr7:151097266G>A c.225C>T c.(223-225)gcC>gcT p.A75A HNSC 7 151093194 151093194 + Missense_Mutation SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr7:151093194C>T c.394G>A c.(394-396)Gag>Aag p.E132K HNSC 7 151097245 151097245 + Missense_Mutation SNP C C A TCGA-CV-A45W-01A-11D-A25D-08 TCGA-CV-A45W-10A-01D-A25E-08 g.chr7:151097245C>A c.246G>T c.(244-246)tgG>tgT p.W82C KIPAN 7 151092874 151092874 + Silent SNP G G A TCGA-BP-4162-01A-02D-1386-10 TCGA-BP-4162-11A-01D-1251-10 g.chr7:151092874G>A c.714C>T c.(712-714)gtC>gtT p.V238V KIRC 7 151092874 151092874 + Silent SNP G G A TCGA-BP-4162-01A-02D-1386-10 TCGA-BP-4162-11A-01D-1251-10 g.chr7:151092874G>A c.714C>T c.(712-714)gtC>gtT p.V238V LIHC 7 151093228 151093228 + Silent SNP C C G TCGA-G3-A5SK-01A-11D-A27I-10 TCGA-G3-A5SK-10A-01D-A27I-10 g.chr7:151093228C>G c.360G>C c.(358-360)cgG>cgC p.R120R LUAD 7 151079002 151079005 + Frame_Shift_Del DEL CCCT CCCT - TCGA-75-6206-01A-11D-1753-08 TCGA-75-6206-10A-01D-1753-08 g.chr7:151079002_151079005delCCCT c.925_928delAGGG c.(925-930)agggtgfs p.RV309fs LUAD 7 151093186 151093186 + Silent SNP C C A TCGA-99-8028-01A-11D-2238-08 TCGA-99-8028-10A-01D-2238-08 g.chr7:151093186C>A c.402G>T c.(400-402)cgG>cgT p.R134R LUAD 7 151093213 151093213 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 g.chr7:151093213G>T c.375C>A c.(373-375)gaC>gaA p.D125E LUAD 7 151097185 151097185 + Splice_Site SNP C C A TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr7:151097185C>A c.e2+1 LUAD 7 151097211 151097211 + Missense_Mutation SNP G G C TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr7:151097211G>C c.280C>G c.(280-282)Cga>Gga p.R94G LUSC 7 151093117 151093117 + Silent SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr7:151093117C>T c.471G>A c.(469-471)gcG>gcA p.A157A LUSC 7 151093180 151093180 + Missense_Mutation SNP G G T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 g.chr7:151093180G>T c.408C>A c.(406-408)caC>caA p.H136Q LUSC 7 151093209 151093210 + Missense_Mutation DNP CC CC AA TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chr7:151093209_151093210CC>AA c.378_379GG>TT c.(376-381)aaGGgg>aaTTgg p.126_127KG>NW PAAD 7 151079024 151079024 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:151079024C>T c.906G>A c.(904-906)gcG>gcA p.A302A PAAD 7 151097270 151097270 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:151097270C>A c.221G>T c.(220-222)aGc>aTc p.S74I READ 7 151093102 151093102 + Silent SNP G G A TCGA-CI-6621-01A-11D-1826-10 TCGA-CI-6621-10A-01D-1826-10 g.chr7:151093102G>A c.486C>T c.(484-486)gcC>gcT p.A162A READ 7 151093140 151093140 + Frame_Shift_Del DEL C C - TCGA-AG-A01W-01A-21W-A096-10 TCGA-AG-A01W-11A-11W-A096-10 g.chr7:151093140delC c.448delG c.(448-450)gacfs p.D150fs READ 7 151097322 151097322 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:151097322C>T c.169G>A c.(169-171)Gaa>Aaa p.E57K SKCM 7 151093146 151093146 + Missense_Mutation SNP G G A TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr7:151093146G>A c.442C>T c.(442-444)Ccg>Tcg p.P148S SKCM 7 151093146 151093146 + Missense_Mutation SNP G G A TCGA-EE-A2GM-06B-11D-A196-08 TCGA-EE-A2GM-10A-01D-A198-08 g.chr7:151093146G>A c.442C>T c.(442-444)Ccg>Tcg p.P148S SKCM 7 151093230 151093230 + Missense_Mutation SNP G G A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr7:151093230G>A c.358C>T c.(358-360)Cgg>Tgg p.R120W SKCM 7 151097249 151097249 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:151097249C>T c.242G>A c.(241-243)aGg>aAg p.R81K SKCM 7 151106512 151106512 + Splice_Site DEL C C - TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 g.chr7:151106512delC c.e1+1

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 7 151073831 151073831 single base substitution C A downstream_gene_variant BLCA-US 7 151073831 151073831 single base substitution C A exon_variant BOCA-FR 7 151077505 151077505 single base substitution G A downstream_gene_variant BOCA-FR 7 151077505 151077505 single base substitution G A intron_variant BRCA-EU 7 151069630 151069630 single base substitution A G downstream_gene_variant BRCA-EU 7 151069853 151069853 single base substitution G T downstream_gene_variant BRCA-EU 7 151070530 151070530 single base substitution C A downstream_gene_variant BRCA-EU 7 151071042 151071042 single base substitution G A downstream_gene_variant BRCA-EU 7 151074308 151074308 single base substitution C G downstream_gene_variant BRCA-EU 7 151074308 151074308 single base substitution C G intron_variant BRCA-EU 7 151074412 151074412 single base substitution G C downstream_gene_variant BRCA-EU 7 151074412 151074412 single base substitution G C intron_variant BRCA-EU 7 151074607 151074607 single base substitution G T downstream_gene_variant BRCA-EU 7 151074607 151074607 single base substitution G T intron_variant BRCA-EU 7 151074990 151074990 single base substitution C T downstream_gene_variant BRCA-EU 7 151074990 151074990 single base substitution C T intron_variant BRCA-EU 7 151075750 151075750 single base substitution G T downstream_gene_variant BRCA-EU 7 151075750 151075750 single base substitution G T intron_variant BRCA-EU 7 151076188 151076188 single base substitution G C downstream_gene_variant BRCA-EU 7 151076188 151076188 single base substitution G C intron_variant BRCA-EU 7 151076503 151076503 single base substitution C A downstream_gene_variant BRCA-EU 7 151076503 151076503 single base substitution C A intron_variant BRCA-EU 7 151076908 151076908 single base substitution C G downstream_gene_variant BRCA-EU 7 151076908 151076908 single base substitution C G intron_variant BRCA-EU 7 151077175 151077175 single base substitution C A downstream_gene_variant BRCA-EU 7 151077175 151077175 single base substitution C A intron_variant BRCA-EU 7 151077296 151077296 single base substitution G A downstream_gene_variant BRCA-EU 7 151077296 151077296 single base substitution G A intron_variant BRCA-EU 7 151077484 151077484 single base substitution G C downstream_gene_variant BRCA-EU 7 151077484 151077484 single base substitution G C intron_variant BRCA-EU 7 151079845 151079845 single base substitution T G intron_variant BRCA-EU 7 151080673 151080673 single base substitution G T intron_variant BRCA-EU 7 151083291 151083291 single base substitution A G intron_variant BRCA-EU 7 151083630 151083630 single base substitution G T intron_variant BRCA-EU 7 151083748 151083748 single base substitution C T intron_variant BRCA-EU 7 151083994 151083994 single base substitution C T intron_variant BRCA-EU 7 151084649 151084649 single base substitution C T intron_variant BRCA-EU 7 151087161 151087161 deletion of <=200bp A - intron_variant BRCA-EU 7 151089366 151089366 single base substitution G A intron_variant BRCA-EU 7 151089675 151089675 single base substitution C T intron_variant BRCA-EU 7 151089682 151089682 single base substitution C T intron_variant BRCA-EU 7 151090090 151090090 single base substitution C G intron_variant BRCA-EU 7 151090551 151090551 single base substitution G A intron_variant BRCA-EU 7 151090780 151090780 insertion of <=200bp - G intron_variant BRCA-EU 7 151091183 151091183 single base substitution G T intron_variant BRCA-EU 7 151091783 151091783 single base substitution C T intron_variant BRCA-EU 7 151091960 151091960 single base substitution C T intron_variant BRCA-EU 7 151092393 151092393 single base substitution C T intron_variant BRCA-EU 7 151092523 151092523 single base substitution G A intron_variant BRCA-EU 7 151092720 151092720 single base substitution G T intron_variant BRCA-EU 7 151093914 151093914 single base substitution A C intron_variant BRCA-EU 7 151093914 151093914 single base substitution A C upstream_gene_variant BRCA-EU 7 151098171 151098171 single base substitution C A intron_variant BRCA-EU 7 151098873 151098873 single base substitution C T intron_variant BRCA-EU 7 151099569 151099569 single base substitution C T intron_variant BRCA-EU 7 151100035 151100035 single base substitution C G intron_variant BRCA-EU 7 151100937 151100937 insertion of <=200bp - T downstream_gene_variant BRCA-EU 7 151100937 151100937 insertion of <=200bp - T intron_variant BRCA-EU 7 151101130 151101130 single base substitution G C downstream_gene_variant BRCA-EU 7 151101130 151101130 single base substitution G C intron_variant BRCA-EU 7 151104778 151104778 single base substitution T A downstream_gene_variant BRCA-EU 7 151104778 151104778 single base substitution T A intron_variant BRCA-EU 7 151104932 151104934 deletion of <=200bp AAC - downstream_gene_variant BRCA-EU 7 151104932 151104934 deletion of <=200bp AAC - intron_variant BRCA-EU 7 151105190 151105190 single base substitution C G downstream_gene_variant BRCA-EU 7 151105190 151105190 single base substitution C G intron_variant BRCA-EU 7 151107702 151107702 single base substitution C T 5_prime_UTR_variant BRCA-EU 7 151107702 151107702 single base substitution C T exon_variant BRCA-EU 7 151107702 151107702 single base substitution C T upstream_gene_variant BRCA-EU 7 151109839 151109839 single base substitution G C upstream_gene_variant BRCA-EU 7 151110499 151110499 single base substitution C T upstream_gene_variant BRCA-EU 7 151110803 151110803 single base substitution C G upstream_gene_variant BRCA-EU 7 151111304 151111304 single base substitution C T upstream_gene_variant BRCA-EU 7 151112172 151112172 single base substitution G C upstream_gene_variant BRCA-EU 7 151112769 151112769 single base substitution G C upstream_gene_variant BRCA-FR 7 151069630 151069630 single base substitution A G downstream_gene_variant BRCA-FR 7 151074607 151074607 single base substitution G T downstream_gene_variant BRCA-FR 7 151074607 151074607 single base substitution G T intron_variant BRCA-FR 7 151079103 151079103 single base substitution T A intron_variant BRCA-FR 7 151080105 151080105 single base substitution C T intron_variant BRCA-FR 7 151083630 151083630 single base substitution G T intron_variant BRCA-FR 7 151083994 151083994 single base substitution C T intron_variant BRCA-FR 7 151086880 151086880 single base substitution G T intron_variant BRCA-FR 7 151088342 151088342 single base substitution C T intron_variant BRCA-FR 7 151089659 151089659 single base substitution T C intron_variant BRCA-FR 7 151098171 151098171 single base substitution C A intron_variant BRCA-FR 7 151101520 151101520 single base substitution G A downstream_gene_variant BRCA-FR 7 151101520 151101520 single base substitution G A intron_variant BRCA-FR 7 151102373 151102373 single base substitution C T downstream_gene_variant BRCA-FR 7 151102373 151102373 single base substitution C T intron_variant BRCA-FR 7 151107702 151107702 single base substitution C T 5_prime_UTR_variant BRCA-FR 7 151107702 151107702 single base substitution C T exon_variant BRCA-FR 7 151107702 151107702 single base substitution C T upstream_gene_variant BRCA-UK 7 151074412 151074412 single base substitution G C downstream_gene_variant BRCA-UK 7 151074412 151074412 single base substitution G C intron_variant BRCA-UK 7 151112803 151112803 single base substitution C T upstream_gene_variant BRCA-US 7 151071305 151071305 single base substitution C T downstream_gene_variant BRCA-US 7 151074240 151074240 single base substitution G C downstream_gene_variant BRCA-US 7 151074240 151074240 single base substitution G C intron_variant BRCA-US 7 151093174 151093174 single base substitution G T missense_variant N10K 30C>A BRCA-US 7 151093174 151093174 single base substitution G T missense_variant N138K 414C>A BRCA-US 7 151093174 151093174 single base substitution G T upstream_gene_variant BRCA-US 7 151093204 151093204 single base substitution C T 5_prime_UTR_variant BRCA-US 7 151093204 151093204 single base substitution C T synonymous_variant Q128Q 384G>A BRCA-US 7 151093204 151093204 single base substitution C T upstream_gene_variant BTCA-JP 7 151073697 151073697 single base substitution G A downstream_gene_variant BTCA-JP 7 151073697 151073697 single base substitution G A exon_variant BTCA-JP 7 151073847 151073847 single base substitution C T downstream_gene_variant BTCA-JP 7 151073847 151073847 single base substitution C T exon_variant BTCA-JP 7 151074012 151074012 single base substitution C T downstream_gene_variant BTCA-JP 7 151074012 151074012 single base substitution C T exon_variant BTCA-JP 7 151093068 151093068 single base substitution T C missense_variant T174A 520A>G BTCA-JP 7 151093068 151093068 single base substitution T C missense_variant T46A 136A>G BTCA-JP 7 151093068 151093068 single base substitution T C upstream_gene_variant BTCA-JP 7 151093312 151093312 single base substitution C T intron_variant BTCA-JP 7 151093312 151093312 single base substitution C T upstream_gene_variant BTCA-JP 7 151097158 151097158 single base substitution C A intron_variant BTCA-JP 7 151097158 151097158 single base substitution C A upstream_gene_variant BTCA-JP 7 151108682 151108682 single base substitution T A upstream_gene_variant CESC-US 7 151074056 151074056 single base substitution G C downstream_gene_variant CESC-US 7 151074056 151074056 single base substitution G C exon_variant CLLE-ES 7 151079139 151079139 single base substitution A T intron_variant CLLE-ES 7 151081922 151081922 single base substitution C G intron_variant CLLE-ES 7 151088579 151088579 single base substitution G A intron_variant CLLE-ES 7 151089641 151089641 single base substitution G A intron_variant CLLE-ES 7 151105275 151105275 deletion of <=200bp C - downstream_gene_variant CLLE-ES 7 151105275 151105275 deletion of <=200bp C - intron_variant CLLE-ES 7 151107219 151107219 single base substitution C T intron_variant CLLE-ES 7 151107219 151107219 single base substitution C T upstream_gene_variant COAD-US 7 151073782 151073782 single base substitution C T downstream_gene_variant COAD-US 7 151073782 151073782 single base substitution C T exon_variant COAD-US 7 151073788 151073788 single base substitution G A downstream_gene_variant COAD-US 7 151073788 151073788 single base substitution G A exon_variant COAD-US 7 151078735 151078735 single base substitution A G intron_variant COAD-US 7 151078735 151078735 single base substitution A G missense_variant C182R 544T>C COAD-US 7 151078735 151078735 single base substitution A G missense_variant M355T 1064T>C COAD-US 7 151078735 151078735 single base substitution A G synonymous_variant H376H 1128T>C COAD-US 7 151082183 151082183 single base substitution C T intron_variant COAD-US 7 151082183 151082183 single base substitution C T missense_variant A285T 853G>A COAD-US 7 151082183 151082183 single base substitution C T missense_variant R306H 917G>A COAD-US 7 151093009 151093009 single base substitution C T synonymous_variant T193T 579G>A COAD-US 7 151093009 151093009 single base substitution C T synonymous_variant T65T 195G>A COAD-US 7 151093009 151093009 single base substitution C T upstream_gene_variant COAD-US 7 151093118 151093118 single base substitution G A missense_variant A157V 470C>T COAD-US 7 151093118 151093118 single base substitution G A missense_variant A29V 86C>T COAD-US 7 151093118 151093118 single base substitution G A upstream_gene_variant COAD-US 7 151093119 151093119 single base substitution C T missense_variant A157T 469G>A COAD-US 7 151093119 151093119 single base substitution C T missense_variant A29T 85G>A COAD-US 7 151093119 151093119 single base substitution C T upstream_gene_variant COAD-US 7 151106527 151106527 single base substitution C T exon_variant COAD-US 7 151106527 151106527 single base substitution C T intron_variant COAD-US 7 151106527 151106527 single base substitution C T missense_variant C50Y 149G>A COCA-CN 7 151068456 151068456 single base substitution A C downstream_gene_variant COCA-CN 7 151071271 151071271 single base substitution C T downstream_gene_variant COCA-CN 7 151073640 151073640 single base substitution G T downstream_gene_variant COCA-CN 7 151073640 151073640 single base substitution G T exon_variant COCA-CN 7 151082486 151082486 single base substitution C A intron_variant COCA-CN 7 151086222 151086222 single base substitution G T intron_variant COCA-CN 7 151086553 151086553 single base substitution C T intron_variant COCA-CN 7 151092582 151092582 single base substitution C G intron_variant COCA-CN 7 151092597 151092597 single base substitution A G intron_variant COCA-CN 7 151092598 151092598 single base substitution C G intron_variant COCA-CN 7 151093120 151093120 single base substitution G A synonymous_variant C156C 468C>T COCA-CN 7 151093120 151093120 single base substitution G A synonymous_variant C28C 84C>T COCA-CN 7 151093120 151093120 single base substitution G A upstream_gene_variant COCA-CN 7 151093141 151093141 single base substitution C A missense_variant W149C 447G>T COCA-CN 7 151093141 151093141 single base substitution C A missense_variant W21C 63G>T COCA-CN 7 151093141 151093141 single base substitution C A upstream_gene_variant COCA-CN 7 151094746 151094746 single base substitution C T intron_variant COCA-CN 7 151094746 151094746 single base substitution C T upstream_gene_variant COCA-CN 7 151094787 151094787 single base substitution T C intron_variant COCA-CN 7 151094787 151094787 single base substitution T C upstream_gene_variant COCA-CN 7 151094842 151094842 single base substitution C T intron_variant COCA-CN 7 151094842 151094842 single base substitution C T upstream_gene_variant COCA-CN 7 151094843 151094843 single base substitution G A intron_variant COCA-CN 7 151094843 151094843 single base substitution G A upstream_gene_variant COCA-CN 7 151094862 151094862 single base substitution A G intron_variant COCA-CN 7 151094862 151094862 single base substitution A G upstream_gene_variant COCA-CN 7 151094891 151094891 single base substitution A G intron_variant COCA-CN 7 151094891 151094891 single base substitution A G upstream_gene_variant COCA-CN 7 151095514 151095514 single base substitution A G intron_variant COCA-CN 7 151095514 151095514 single base substitution A G upstream_gene_variant COCA-CN 7 151096854 151096854 single base substitution A G intron_variant COCA-CN 7 151096854 151096854 single base substitution A G upstream_gene_variant COCA-CN 7 151097314 151097314 single base substitution A G 5_prime_UTR_variant COCA-CN 7 151097314 151097314 single base substitution A G synonymous_variant Y59Y 177T>C COCA-CN 7 151097314 151097314 single base substitution A G upstream_gene_variant COCA-CN 7 151106101 151106101 single base substitution C T exon_variant COCA-CN 7 151106101 151106101 single base substitution C T intron_variant COCA-CN 7 151106245 151106245 single base substitution C T intron_variant COCA-CN 7 151106632 151106632 single base substitution C T exon_variant COCA-CN 7 151106632 151106632 single base substitution C T intron_variant COCA-CN 7 151106632 151106632 single base substitution C T missense_variant R15H 44G>A COCA-CN 7 151108897 151108897 single base substitution C A upstream_gene_variant ESAD-UK 7 151070788 151070788 single base substitution G A downstream_gene_variant ESAD-UK 7 151073611 151073611 single base substitution C T downstream_gene_variant ESAD-UK 7 151073611 151073611 single base substitution C T exon_variant ESAD-UK 7 151073662 151073662 single base substitution C T downstream_gene_variant ESAD-UK 7 151073662 151073662 single base substitution C T exon_variant ESAD-UK 7 151076789 151076789 single base substitution C T downstream_gene_variant ESAD-UK 7 151076789 151076789 single base substitution C T intron_variant ESAD-UK 7 151078621 151078621 single base substitution G A 3_prime_UTR_variant ESAD-UK 7 151078621 151078621 single base substitution G A intron_variant ESAD-UK 7 151078621 151078621 single base substitution G A stop_gained Q220* 658C>T ESAD-UK 7 151078621 151078621 single base substitution G A synonymous_variant P414P 1242C>T ESAD-UK 7 151079384 151079384 single base substitution G A intron_variant ESAD-UK 7 151079971 151079971 single base substitution G A intron_variant ESAD-UK 7 151080437 151080437 single base substitution G T intron_variant ESAD-UK 7 151082230 151082230 single base substitution C T intron_variant ESAD-UK 7 151082230 151082230 single base substitution C T missense_variant R269H 806G>A ESAD-UK 7 151082230 151082230 single base substitution C T synonymous_variant A290A 870G>A ESAD-UK 7 151086263 151086263 single base substitution G A intron_variant ESAD-UK 7 151087756 151087756 single base substitution G A intron_variant ESAD-UK 7 151088440 151088440 single base substitution G T intron_variant ESAD-UK 7 151088957 151088957 insertion of <=200bp - GAGGG intron_variant ESAD-UK 7 151089253 151089253 single base substitution C A intron_variant ESAD-UK 7 151089394 151089394 single base substitution C A intron_variant ESAD-UK 7 151090862 151090862 single base substitution C T intron_variant ESAD-UK 7 151093084 151093084 single base substitution G A synonymous_variant T168T 504C>T ESAD-UK 7 151093084 151093084 single base substitution G A synonymous_variant T40T 120C>T ESAD-UK 7 151093084 151093084 single base substitution G A upstream_gene_variant ESAD-UK 7 151093537 151093537 single base substitution C T intron_variant ESAD-UK 7 151093537 151093537 single base substitution C T upstream_gene_variant ESAD-UK 7 151096482 151096482 single base substitution C A intron_variant ESAD-UK 7 151096482 151096482 single base substitution C A upstream_gene_variant ESAD-UK 7 151097613 151097613 single base substitution G A intron_variant ESAD-UK 7 151097613 151097613 single base substitution G A upstream_gene_variant ESAD-UK 7 151098861 151098861 single base substitution C T intron_variant ESAD-UK 7 151098863 151098863 single base substitution C T intron_variant ESAD-UK 7 151100105 151100105 single base substitution G A intron_variant ESAD-UK 7 151100138 151100138 single base substitution C T intron_variant ESAD-UK 7 151100272 151100272 single base substitution A T intron_variant ESAD-UK 7 151102392 151102392 single base substitution C G downstream_gene_variant ESAD-UK 7 151102392 151102392 single base substitution C G intron_variant ESAD-UK 7 151102580 151102580 single base substitution C A downstream_gene_variant ESAD-UK 7 151102580 151102580 single base substitution C A intron_variant ESAD-UK 7 151106664 151106664 single base substitution G A exon_variant ESAD-UK 7 151106664 151106664 single base substitution G A intron_variant ESAD-UK 7 151106664 151106664 single base substitution G A synonymous_variant G4G 12C>T ESAD-UK 7 151106709 151106709 single base substitution C T 5_prime_UTR_variant ESAD-UK 7 151106709 151106709 single base substitution C T exon_variant ESAD-UK 7 151106709 151106709 single base substitution C T intron_variant ESAD-UK 7 151107151 151107151 single base substitution C A intron_variant ESAD-UK 7 151107151 151107151 single base substitution C A upstream_gene_variant ESAD-UK 7 151107439 151107439 single base substitution C T intron_variant ESAD-UK 7 151107439 151107439 single base substitution C T upstream_gene_variant ESAD-UK 7 151108850 151108850 single base substitution C A upstream_gene_variant ESAD-UK 7 151109095 151109095 single base substitution C G upstream_gene_variant ESAD-UK 7 151109908 151109908 single base substitution C T upstream_gene_variant ESAD-UK 7 151110060 151110060 single base substitution C G upstream_gene_variant ESAD-UK 7 151111035 151111035 single base substitution G A upstream_gene_variant ESAD-UK 7 151111224 151111224 single base substitution G T upstream_gene_variant ESAD-UK 7 151111515 151111515 single base substitution G A upstream_gene_variant ESAD-UK 7 151112067 151112067 single base substitution G T upstream_gene_variant GBM-US 7 151093239 151093239 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant GBM-US 7 151093239 151093239 single base substitution G A missense_variant R117W 349C>T GBM-US 7 151093239 151093239 single base substitution G A upstream_gene_variant GBM-US 7 151097266 151097266 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant GBM-US 7 151097266 151097266 single base substitution G A synonymous_variant A75A 225C>T GBM-US 7 151097266 151097266 single base substitution G A upstream_gene_variant KIRC-US 7 151092874 151092874 single base substitution G A exon_variant KIRC-US 7 151092874 151092874 single base substitution G A synonymous_variant V110V 330C>T KIRC-US 7 151092874 151092874 single base substitution G A synonymous_variant V238V 714C>T LAML-KR 7 151074015 151074015 single base substitution G C downstream_gene_variant LAML-KR 7 151074015 151074015 single base substitution G C exon_variant LICA-FR 7 151078821 151078821 single base substitution C T intron_variant LICA-FR 7 151078821 151078821 single base substitution C T missense_variant G348S 1042G>A LICA-FR 7 151078821 151078821 single base substitution C T missense_variant R153K 458G>A LICA-FR 7 151078821 151078821 single base substitution C T synonymous_variant Q326Q 978G>A LICA-FR 7 151083324 151083324 single base substitution G A intron_variant LICA-FR 7 151092993 151092993 deletion of <=200bp G - exon_variant LICA-FR 7 151092993 151092993 deletion of <=200bp G - frameshift_variant L199 LICA-FR 7 151092993 151092993 deletion of <=200bp G - frameshift_variant L71 LICA-FR 7 151092995 151092995 single base substitution C T exon_variant LICA-FR 7 151092995 151092995 single base substitution C T missense_variant C198Y 593G>A LICA-FR 7 151092995 151092995 single base substitution C T missense_variant C70Y 209G>A LICA-FR 7 151094746 151094746 single base substitution C T intron_variant LICA-FR 7 151094746 151094746 single base substitution C T upstream_gene_variant LIHC-US 7 151093228 151093228 single base substitution C G 5_prime_UTR_variant LIHC-US 7 151093228 151093228 single base substitution C G synonymous_variant R120R 360G>C LIHC-US 7 151093228 151093228 single base substitution C G upstream_gene_variant LINC-JP 7 151079024 151079024 single base substitution C A intron_variant LINC-JP 7 151079024 151079024 single base substitution C A missense_variant A324S 970G>T LINC-JP 7 151079024 151079024 single base substitution C A missense_variant R129L 386G>T LINC-JP 7 151079024 151079024 single base substitution C A synonymous_variant A302A 906G>T LINC-JP 7 151079082 151079082 single base substitution C T intron_variant LINC-JP 7 151106547 151106547 single base substitution G T exon_variant LINC-JP 7 151106547 151106547 single base substitution G T intron_variant LINC-JP 7 151106547 151106547 single base substitution G T missense_variant S43R 129C>A LIRI-JP 7 151070374 151070374 single base substitution C G downstream_gene_variant LIRI-JP 7 151071373 151071373 single base substitution G A downstream_gene_variant LIRI-JP 7 151073153 151073153 single base substitution A T exon_variant LIRI-JP 7 151075419 151075419 single base substitution A G downstream_gene_variant LIRI-JP 7 151075419 151075419 single base substitution A G intron_variant LIRI-JP 7 151075774 151075774 single base substitution T G downstream_gene_variant LIRI-JP 7 151075774 151075774 single base substitution T G intron_variant LIRI-JP 7 151077158 151077159 deletion of <=200bp TG - downstream_gene_variant LIRI-JP 7 151077158 151077159 deletion of <=200bp TG - intron_variant LIRI-JP 7 151077429 151077429 single base substitution G A downstream_gene_variant LIRI-JP 7 151077429 151077429 single base substitution G A intron_variant LIRI-JP 7 151078938 151078938 single base substitution G T intron_variant LIRI-JP 7 151079425 151079425 single base substitution C T intron_variant LIRI-JP 7 151079443 151079443 single base substitution G A intron_variant LIRI-JP 7 151082161 151082161 single base substitution C A intron_variant LIRI-JP 7 151082786 151082786 single base substitution C T intron_variant LIRI-JP 7 151083384 151083384 single base substitution A G intron_variant LIRI-JP 7 151085754 151085754 single base substitution T G intron_variant LIRI-JP 7 151088551 151088551 single base substitution A G intron_variant LIRI-JP 7 151089226 151089226 single base substitution G A intron_variant LIRI-JP 7 151091089 151091089 single base substitution C T intron_variant LIRI-JP 7 151091698 151091698 single base substitution A G intron_variant LIRI-JP 7 151091829 151091829 deletion of <=200bp G - intron_variant LIRI-JP 7 151099028 151099028 single base substitution G A intron_variant LIRI-JP 7 151108223 151108223 single base substitution A G upstream_gene_variant LIRI-JP 7 151108224 151108224 single base substitution G T upstream_gene_variant LIRI-JP 7 151108694 151108694 single base substitution G T upstream_gene_variant LIRI-JP 7 151109028 151109028 single base substitution G A upstream_gene_variant LIRI-JP 7 151110440 151110440 single base substitution A G upstream_gene_variant LIRI-JP 7 151110937 151110937 single base substitution C T upstream_gene_variant LIRI-JP 7 151111825 151111825 single base substitution G T upstream_gene_variant LIRI-JP 7 151112737 151112737 single base substitution T G upstream_gene_variant LUSC-KR 7 151074015 151074015 single base substitution G C downstream_gene_variant LUSC-KR 7 151074015 151074015 single base substitution G C exon_variant LUSC-KR 7 151074296 151074296 single base substitution A G downstream_gene_variant LUSC-KR 7 151074296 151074296 single base substitution A G intron_variant LUSC-KR 7 151074889 151074889 single base substitution G C downstream_gene_variant LUSC-KR 7 151074889 151074889 single base substitution G C intron_variant LUSC-KR 7 151075833 151075833 single base substitution A G downstream_gene_variant LUSC-KR 7 151075833 151075833 single base substitution A G intron_variant LUSC-KR 7 151078218 151078218 single base substitution T C 3_prime_UTR_variant LUSC-KR 7 151078218 151078218 single base substitution T C intron_variant LUSC-KR 7 151087235 151087235 single base substitution C T intron_variant LUSC-KR 7 151089272 151089272 single base substitution C T intron_variant LUSC-KR 7 151090842 151090842 single base substitution C T intron_variant LUSC-KR 7 151092456 151092456 single base substitution C T intron_variant LUSC-KR 7 151092997 151092997 single base substitution C T exon_variant LUSC-KR 7 151092997 151092997 single base substitution C T synonymous_variant L197L 591G>A LUSC-KR 7 151092997 151092997 single base substitution C T synonymous_variant L69L 207G>A LUSC-KR 7 151096358 151096358 single base substitution T C intron_variant LUSC-KR 7 151096358 151096358 single base substitution T C upstream_gene_variant LUSC-KR 7 151105302 151105302 single base substitution A T downstream_gene_variant LUSC-KR 7 151105302 151105302 single base substitution A T intron_variant LUSC-KR 7 151107559 151107559 single base substitution C A intron_variant LUSC-KR 7 151107559 151107559 single base substitution C A upstream_gene_variant LUSC-KR 7 151108770 151108770 single base substitution C G upstream_gene_variant LUSC-KR 7 151108998 151108998 single base substitution T A upstream_gene_variant LUSC-KR 7 151111864 151111864 single base substitution T A upstream_gene_variant LUSC-US 7 151093117 151093117 single base substitution C T synonymous_variant A157A 471G>A LUSC-US 7 151093117 151093117 single base substitution C T synonymous_variant A29A 87G>A LUSC-US 7 151093117 151093117 single base substitution C T upstream_gene_variant LUSC-US 7 151093180 151093180 single base substitution G T missense_variant H136Q 408C>A LUSC-US 7 151093180 151093180 single base substitution G T missense_variant H8Q 24C>A LUSC-US 7 151093180 151093180 single base substitution G T upstream_gene_variant LUSC-US 7 151093209 151093209 single base substitution C A 5_prime_UTR_variant LUSC-US 7 151093209 151093209 single base substitution C A missense_variant G127W 379G>T LUSC-US 7 151093209 151093209 single base substitution C A upstream_gene_variant LUSC-US 7 151093210 151093210 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant LUSC-US 7 151093210 151093210 single base substitution C A missense_variant K126N 378G>T LUSC-US 7 151093210 151093210 single base substitution C A upstream_gene_variant MALY-DE 7 151080068 151080068 single base substitution T G intron_variant MALY-DE 7 151085130 151085130 single base substitution C T intron_variant MALY-DE 7 151085499 151085499 single base substitution C T intron_variant MALY-DE 7 151086178 151086178 single base substitution T C intron_variant MALY-DE 7 151089451 151089451 single base substitution G A intron_variant MALY-DE 7 151092347 151092347 single base substitution G A intron_variant MALY-DE 7 151094742 151094742 insertion of <=200bp - AG intron_variant MALY-DE 7 151094742 151094742 insertion of <=200bp - AG upstream_gene_variant MALY-DE 7 151107313 151107315 deletion of <=200bp CCG - intron_variant MALY-DE 7 151107313 151107315 deletion of <=200bp CCG - upstream_gene_variant MELA-AU 7 151068006 151068006 single base substitution C T downstream_gene_variant MELA-AU 7 151068450 151068450 insertion of <=200bp - C downstream_gene_variant MELA-AU 7 151069158 151069158 single base substitution T G downstream_gene_variant MELA-AU 7 151069471 151069471 single base substitution C T downstream_gene_variant MELA-AU 7 151069863 151069863 single base substitution C T downstream_gene_variant MELA-AU 7 151069965 151069965 single base substitution G A downstream_gene_variant MELA-AU 7 151069992 151069992 single base substitution C T downstream_gene_variant MELA-AU 7 151070127 151070127 single base substitution T C downstream_gene_variant MELA-AU 7 151070245 151070245 single base substitution T C downstream_gene_variant MELA-AU 7 151070253 151070253 single base substitution C T downstream_gene_variant MELA-AU 7 151070422 151070422 single base substitution C T downstream_gene_variant MELA-AU 7 151070814 151070814 single base substitution C T downstream_gene_variant MELA-AU 7 151070942 151070942 single base substitution C T downstream_gene_variant MELA-AU 7 151071340 151071340 single base substitution C T downstream_gene_variant MELA-AU 7 151071931 151071931 single base substitution C T downstream_gene_variant MELA-AU 7 151071978 151071978 single base substitution C T downstream_gene_variant MELA-AU 7 151072053 151072054 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 151072237 151072237 single base substitution C T downstream_gene_variant MELA-AU 7 151072578 151072578 single base substitution G A downstream_gene_variant MELA-AU 7 151072655 151072656 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 151072723 151072723 single base substitution C T downstream_gene_variant MELA-AU 7 151073125 151073125 single base substitution C T exon_variant MELA-AU 7 151073162 151073162 single base substitution C T exon_variant MELA-AU 7 151073251 151073251 single base substitution C T downstream_gene_variant MELA-AU 7 151073251 151073251 single base substitution C T exon_variant MELA-AU 7 151073513 151073513 single base substitution C T downstream_gene_variant MELA-AU 7 151073513 151073513 single base substitution C T exon_variant MELA-AU 7 151073892 151073892 single base substitution C T downstream_gene_variant MELA-AU 7 151073892 151073892 single base substitution C T exon_variant MELA-AU 7 151074380 151074380 single base substitution C T downstream_gene_variant MELA-AU 7 151074380 151074380 single base substitution C T intron_variant MELA-AU 7 151074643 151074644 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 151074643 151074644 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 151074731 151074731 single base substitution C T downstream_gene_variant MELA-AU 7 151074731 151074731 single base substitution C T intron_variant MELA-AU 7 151074820 151074820 single base substitution C T downstream_gene_variant MELA-AU 7 151074820 151074820 single base substitution C T intron_variant MELA-AU 7 151074821 151074821 single base substitution C T downstream_gene_variant MELA-AU 7 151074821 151074821 single base substitution C T intron_variant MELA-AU 7 151074825 151074825 single base substitution C T downstream_gene_variant MELA-AU 7 151074825 151074825 single base substitution C T intron_variant MELA-AU 7 151075500 151075500 single base substitution C T downstream_gene_variant MELA-AU 7 151075500 151075500 single base substitution C T intron_variant MELA-AU 7 151075712 151075712 single base substitution C T downstream_gene_variant MELA-AU 7 151075712 151075712 single base substitution C T intron_variant MELA-AU 7 151076429 151076429 single base substitution G A downstream_gene_variant MELA-AU 7 151076429 151076429 single base substitution G A intron_variant MELA-AU 7 151076440 151076440 single base substitution C T downstream_gene_variant MELA-AU 7 151076440 151076440 single base substitution C T intron_variant MELA-AU 7 151076742 151076742 single base substitution G A downstream_gene_variant MELA-AU 7 151076742 151076742 single base substitution G A intron_variant MELA-AU 7 151076792 151076792 single base substitution C T downstream_gene_variant MELA-AU 7 151076792 151076792 single base substitution C T intron_variant MELA-AU 7 151076793 151076793 single base substitution C T downstream_gene_variant MELA-AU 7 151076793 151076793 single base substitution C T intron_variant MELA-AU 7 151076805 151076805 single base substitution C T downstream_gene_variant MELA-AU 7 151076805 151076805 single base substitution C T intron_variant MELA-AU 7 151077149 151077149 single base substitution C A downstream_gene_variant MELA-AU 7 151077149 151077149 single base substitution C A intron_variant MELA-AU 7 151077409 151077409 single base substitution G A downstream_gene_variant MELA-AU 7 151077409 151077409 single base substitution G A intron_variant MELA-AU 7 151077550 151077550 single base substitution C T downstream_gene_variant MELA-AU 7 151077550 151077550 single base substitution C T intron_variant MELA-AU 7 151077708 151077708 single base substitution C T downstream_gene_variant MELA-AU 7 151077708 151077708 single base substitution C T intron_variant MELA-AU 7 151077954 151077954 single base substitution C T downstream_gene_variant MELA-AU 7 151077954 151077954 single base substitution C T intron_variant MELA-AU 7 151078389 151078390 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 7 151078389 151078390 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 151078451 151078451 single base substitution G A 3_prime_UTR_variant MELA-AU 7 151078451 151078451 single base substitution G A intron_variant MELA-AU 7 151078451 151078451 single base substitution G A missense_variant P471L 1412C>T MELA-AU 7 151078451 151078451 single base substitution G A synonymous_variant P276P 828C>T MELA-AU 7 151078926 151078926 single base substitution C T intron_variant MELA-AU 7 151078997 151078997 single base substitution G T intron_variant MELA-AU 7 151078997 151078997 single base substitution G T missense_variant F311L 933C>A MELA-AU 7 151078997 151078997 single base substitution G T missense_variant P333T 997C>A MELA-AU 7 151078997 151078997 single base substitution G T missense_variant S138Y 413C>A MELA-AU 7 151079679 151079679 single base substitution G T intron_variant MELA-AU 7 151079756 151079756 single base substitution C T intron_variant MELA-AU 7 151080048 151080048 single base substitution G A intron_variant MELA-AU 7 151080165 151080165 single base substitution G A intron_variant MELA-AU 7 151080748 151080749 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 151080851 151080851 single base substitution C T intron_variant MELA-AU 7 151080869 151080869 single base substitution G A intron_variant MELA-AU 7 151081018 151081018 single base substitution C T intron_variant MELA-AU 7 151081073 151081073 single base substitution A T intron_variant MELA-AU 7 151081113 151081113 single base substitution G A intron_variant MELA-AU 7 151081172 151081172 single base substitution C T intron_variant MELA-AU 7 151081790 151081790 single base substitution C T intron_variant MELA-AU 7 151082100 151082100 single base substitution C T intron_variant MELA-AU 7 151082184 151082184 single base substitution G T intron_variant MELA-AU 7 151082184 151082184 single base substitution G T missense_variant H284Q 852C>A MELA-AU 7 151082184 151082184 single base substitution G T missense_variant R306S 916C>A MELA-AU 7 151082219 151082219 single base substitution C T intron_variant MELA-AU 7 151082219 151082219 single base substitution C T missense_variant A273T 817G>A MELA-AU 7 151082219 151082219 single base substitution C T missense_variant G294D 881G>A MELA-AU 7 151082342 151082342 single base substitution G A intron_variant MELA-AU 7 151082342 151082342 single base substitution G A missense_variant P253L 758C>T MELA-AU 7 151082814 151082814 single base substitution C T intron_variant MELA-AU 7 151082945 151082945 single base substitution G A intron_variant MELA-AU 7 151083097 151083097 single base substitution C T intron_variant MELA-AU 7 151083521 151083521 single base substitution C T intron_variant MELA-AU 7 151083551 151083551 single base substitution C T intron_variant MELA-AU 7 151083603 151083604 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 151083727 151083727 single base substitution T C intron_variant MELA-AU 7 151083730 151083730 single base substitution C T intron_variant MELA-AU 7 151083766 151083766 single base substitution G A intron_variant MELA-AU 7 151083834 151083835 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 7 151084385 151084385 single base substitution G A intron_variant MELA-AU 7 151084555 151084555 single base substitution G A intron_variant MELA-AU 7 151084661 151084661 single base substitution G A intron_variant MELA-AU 7 151084829 151084829 single base substitution C T intron_variant MELA-AU 7 151084949 151084949 single base substitution C T intron_variant MELA-AU 7 151085523 151085523 single base substitution G A intron_variant MELA-AU 7 151085525 151085525 single base substitution G A intron_variant MELA-AU 7 151085584 151085584 single base substitution C T intron_variant MELA-AU 7 151085644 151085644 single base substitution G A intron_variant MELA-AU 7 151085750 151085750 single base substitution C T intron_variant MELA-AU 7 151085856 151085856 single base substitution C T intron_variant MELA-AU 7 151085871 151085871 single base substitution G A intron_variant MELA-AU 7 151085928 151085928 single base substitution G A intron_variant MELA-AU 7 151085957 151085957 single base substitution G A intron_variant MELA-AU 7 151086002 151086002 single base substitution C T intron_variant MELA-AU 7 151086101 151086101 single base substitution C T intron_variant MELA-AU 7 151086111 151086111 single base substitution G A intron_variant MELA-AU 7 151086263 151086263 single base substitution G A intron_variant MELA-AU 7 151086344 151086344 single base substitution C T intron_variant MELA-AU 7 151086639 151086639 single base substitution G A intron_variant MELA-AU 7 151086721 151086721 single base substitution C T intron_variant MELA-AU 7 151086814 151086814 single base substitution G A intron_variant MELA-AU 7 151086843 151086843 single base substitution C T intron_variant MELA-AU 7 151086856 151086856 single base substitution C T intron_variant MELA-AU 7 151087058 151087058 single base substitution G A intron_variant MELA-AU 7 151087125 151087125 single base substitution G A intron_variant MELA-AU 7 151087147 151087147 single base substitution G A intron_variant MELA-AU 7 151087215 151087215 single base substitution G A intron_variant MELA-AU 7 151087524 151087524 single base substitution G A intron_variant MELA-AU 7 151087725 151087725 single base substitution C T intron_variant MELA-AU 7 151087798 151087798 single base substitution G A intron_variant MELA-AU 7 151087837 151087837 single base substitution G A intron_variant MELA-AU 7 151087881 151087881 single base substitution G A intron_variant MELA-AU 7 151088396 151088396 single base substitution C T intron_variant MELA-AU 7 151088565 151088565 single base substitution C T intron_variant MELA-AU 7 151088669 151088669 single base substitution G A intron_variant MELA-AU 7 151088682 151088682 single base substitution C T intron_variant MELA-AU 7 151088739 151088740 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 151088804 151088804 single base substitution C T intron_variant MELA-AU 7 151088847 151088847 single base substitution G A intron_variant MELA-AU 7 151089214 151089214 single base substitution C G intron_variant MELA-AU 7 151089232 151089232 single base substitution C T intron_variant MELA-AU 7 151089251 151089251 single base substitution G A intron_variant MELA-AU 7 151089266 151089266 single base substitution C T intron_variant MELA-AU 7 151089267 151089267 single base substitution G A intron_variant MELA-AU 7 151089325 151089325 single base substitution C T intron_variant MELA-AU 7 151089605 151089605 single base substitution C T intron_variant MELA-AU 7 151089683 151089683 single base substitution C T intron_variant MELA-AU 7 151089820 151089820 single base substitution C T intron_variant MELA-AU 7 151090010 151090010 single base substitution C T intron_variant MELA-AU 7 151090481 151090481 single base substitution G A intron_variant MELA-AU 7 151090517 151090517 single base substitution G A intron_variant MELA-AU 7 151090530 151090530 single base substitution G A intron_variant MELA-AU 7 151090729 151090729 single base substitution C T intron_variant MELA-AU 7 151090801 151090801 single base substitution C T intron_variant MELA-AU 7 151090810 151090810 single base substitution C T intron_variant MELA-AU 7 151091134 151091134 single base substitution G T intron_variant MELA-AU 7 151091153 151091153 single base substitution G A intron_variant MELA-AU 7 151091314 151091314 single base substitution G A intron_variant MELA-AU 7 151091385 151091385 single base substitution T C intron_variant MELA-AU 7 151091445 151091445 single base substitution C A intron_variant MELA-AU 7 151091459 151091459 single base substitution C T intron_variant MELA-AU 7 151091761 151091761 single base substitution G A intron_variant MELA-AU 7 151091850 151091850 single base substitution C T intron_variant MELA-AU 7 151091948 151091948 single base substitution G A intron_variant MELA-AU 7 151092118 151092119 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 151092799 151092799 single base substitution G A intron_variant MELA-AU 7 151092922 151092922 single base substitution G A exon_variant MELA-AU 7 151092922 151092922 single base substitution G A synonymous_variant I222I 666C>T MELA-AU 7 151092922 151092922 single base substitution G A synonymous_variant I94I 282C>T MELA-AU 7 151093027 151093027 single base substitution C T synonymous_variant Q187Q 561G>A MELA-AU 7 151093027 151093027 single base substitution C T synonymous_variant Q59Q 177G>A MELA-AU 7 151093027 151093027 single base substitution C T upstream_gene_variant MELA-AU 7 151093163 151093163 single base substitution G A missense_variant T142I 425C>T MELA-AU 7 151093163 151093163 single base substitution G A missense_variant T14I 41C>T MELA-AU 7 151093163 151093163 single base substitution G A upstream_gene_variant MELA-AU 7 151093208 151093208 single base substitution C T 5_prime_UTR_variant MELA-AU 7 151093208 151093208 single base substitution C T missense_variant G127E 380G>A MELA-AU 7 151093208 151093208 single base substitution C T upstream_gene_variant MELA-AU 7 151093230 151093230 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 7 151093230 151093230 single base substitution G A missense_variant R120W 358C>T MELA-AU 7 151093230 151093230 single base substitution G A upstream_gene_variant MELA-AU 7 151093495 151093495 single base substitution C T intron_variant MELA-AU 7 151093495 151093495 single base substitution C T upstream_gene_variant MELA-AU 7 151093685 151093685 single base substitution G A intron_variant MELA-AU 7 151093685 151093685 single base substitution G A upstream_gene_variant MELA-AU 7 151093779 151093779 single base substitution G C intron_variant MELA-AU 7 151093779 151093779 single base substitution G C upstream_gene_variant MELA-AU 7 151093846 151093846 single base substitution G A intron_variant MELA-AU 7 151093846 151093846 single base substitution G A upstream_gene_variant MELA-AU 7 151093856 151093856 single base substitution G A intron_variant MELA-AU 7 151093856 151093856 single base substitution G A upstream_gene_variant MELA-AU 7 151093980 151093980 single base substitution G A intron_variant MELA-AU 7 151093980 151093980 single base substitution G A upstream_gene_variant MELA-AU 7 151093996 151093996 single base substitution G A intron_variant MELA-AU 7 151093996 151093996 single base substitution G A upstream_gene_variant MELA-AU 7 151094000 151094000 single base substitution C T intron_variant MELA-AU 7 151094000 151094000 single base substitution C T upstream_gene_variant MELA-AU 7 151094070 151094070 single base substitution C T intron_variant MELA-AU 7 151094070 151094070 single base substitution C T upstream_gene_variant MELA-AU 7 151094297 151094297 single base substitution C T intron_variant MELA-AU 7 151094297 151094297 single base substitution C T upstream_gene_variant MELA-AU 7 151094620 151094620 single base substitution C T intron_variant MELA-AU 7 151094620 151094620 single base substitution C T upstream_gene_variant MELA-AU 7 151094704 151094704 single base substitution G A intron_variant MELA-AU 7 151094704 151094704 single base substitution G A upstream_gene_variant MELA-AU 7 151094718 151094718 single base substitution G A intron_variant MELA-AU 7 151094718 151094718 single base substitution G A upstream_gene_variant MELA-AU 7 151094746 151094747 multiple base substitution (>=2bp and <=200bp) CA TG intron_variant MELA-AU 7 151094746 151094747 multiple base substitution (>=2bp and <=200bp) CA TG upstream_gene_variant MELA-AU 7 151094960 151094960 single base substitution G A intron_variant MELA-AU 7 151094960 151094960 single base substitution G A upstream_gene_variant MELA-AU 7 151095081 151095081 single base substitution G A intron_variant MELA-AU 7 151095081 151095081 single base substitution G A upstream_gene_variant MELA-AU 7 151095113 151095113 single base substitution C T intron_variant MELA-AU 7 151095113 151095113 single base substitution C T upstream_gene_variant MELA-AU 7 151095400 151095400 single base substitution T C intron_variant MELA-AU 7 151095400 151095400 single base substitution T C upstream_gene_variant MELA-AU 7 151095683 151095683 single base substitution A T intron_variant MELA-AU 7 151095683 151095683 single base substitution A T upstream_gene_variant MELA-AU 7 151095765 151095765 single base substitution G T intron_variant MELA-AU 7 151095765 151095765 single base substitution G T upstream_gene_variant MELA-AU 7 151095896 151095896 single base substitution C T intron_variant MELA-AU 7 151095896 151095896 single base substitution C T upstream_gene_variant MELA-AU 7 151096142 151096142 single base substitution C A intron_variant MELA-AU 7 151096142 151096142 single base substitution C A upstream_gene_variant MELA-AU 7 151096224 151096224 single base substitution C T intron_variant MELA-AU 7 151096224 151096224 single base substitution C T upstream_gene_variant MELA-AU 7 151096234 151096234 single base substitution C T intron_variant MELA-AU 7 151096234 151096234 single base substitution C T upstream_gene_variant MELA-AU 7 151096242 151096242 single base substitution C T intron_variant MELA-AU 7 151096242 151096242 single base substitution C T upstream_gene_variant MELA-AU 7 151096282 151096282 single base substitution C T intron_variant MELA-AU 7 151096282 151096282 single base substitution C T upstream_gene_variant MELA-AU 7 151096441 151096441 single base substitution C T intron_variant MELA-AU 7 151096441 151096441 single base substitution C T upstream_gene_variant MELA-AU 7 151096724 151096724 single base substitution G A intron_variant MELA-AU 7 151096724 151096724 single base substitution G A upstream_gene_variant MELA-AU 7 151096765 151096765 single base substitution A T intron_variant MELA-AU 7 151096765 151096765 single base substitution A T upstream_gene_variant MELA-AU 7 151096768 151096768 single base substitution C T intron_variant MELA-AU 7 151096768 151096768 single base substitution C T upstream_gene_variant MELA-AU 7 151096934 151096934 single base substitution G A intron_variant MELA-AU 7 151096934 151096934 single base substitution G A upstream_gene_variant MELA-AU 7 151097377 151097377 single base substitution C T intron_variant MELA-AU 7 151097377 151097377 single base substitution C T upstream_gene_variant MELA-AU 7 151097394 151097394 single base substitution A G intron_variant MELA-AU 7 151097394 151097394 single base substitution A G upstream_gene_variant MELA-AU 7 151097824 151097824 single base substitution G A intron_variant MELA-AU 7 151097824 151097824 single base substitution G A upstream_gene_variant MELA-AU 7 151098228 151098228 single base substitution C T intron_variant MELA-AU 7 151098325 151098325 single base substitution A G intron_variant MELA-AU 7 151098490 151098490 single base substitution C T intron_variant MELA-AU 7 151098494 151098494 single base substitution C T intron_variant MELA-AU 7 151098808 151098808 single base substitution G A intron_variant MELA-AU 7 151098832 151098832 single base substitution G A intron_variant MELA-AU 7 151099007 151099007 single base substitution C T intron_variant MELA-AU 7 151099156 151099156 single base substitution A T intron_variant MELA-AU 7 151099349 151099349 single base substitution C T intron_variant MELA-AU 7 151099592 151099592 single base substitution G A intron_variant MELA-AU 7 151100281 151100281 single base substitution C T intron_variant MELA-AU 7 151100306 151100306 single base substitution G A intron_variant MELA-AU 7 151100548 151100549 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 151101241 151101241 single base substitution G C downstream_gene_variant MELA-AU 7 151101241 151101241 single base substitution G C intron_variant MELA-AU 7 151101677 151101677 single base substitution G A downstream_gene_variant MELA-AU 7 151101677 151101677 single base substitution G A intron_variant MELA-AU 7 151102037 151102037 single base substitution C T downstream_gene_variant MELA-AU 7 151102037 151102037 single base substitution C T intron_variant MELA-AU 7 151102143 151102143 single base substitution C T downstream_gene_variant MELA-AU 7 151102143 151102143 single base substitution C T intron_variant MELA-AU 7 151102417 151102417 single base substitution G A downstream_gene_variant MELA-AU 7 151102417 151102417 single base substitution G A intron_variant MELA-AU 7 151102418 151102418 single base substitution G A downstream_gene_variant MELA-AU 7 151102418 151102418 single base substitution G A intron_variant MELA-AU 7 151102422 151102422 single base substitution G A downstream_gene_variant MELA-AU 7 151102422 151102422 single base substitution G A intron_variant MELA-AU 7 151102681 151102681 single base substitution A G downstream_gene_variant MELA-AU 7 151102681 151102681 single base substitution A G intron_variant MELA-AU 7 151102734 151102734 single base substitution G A downstream_gene_variant MELA-AU 7 151102734 151102734 single base substitution G A intron_variant MELA-AU 7 151103099 151103099 single base substitution G A downstream_gene_variant MELA-AU 7 151103099 151103099 single base substitution G A intron_variant MELA-AU 7 151103188 151103188 single base substitution C T downstream_gene_variant MELA-AU 7 151103188 151103188 single base substitution C T intron_variant MELA-AU 7 151103221 151103221 single base substitution A T downstream_gene_variant MELA-AU 7 151103221 151103221 single base substitution A T intron_variant MELA-AU 7 151103301 151103301 single base substitution C T downstream_gene_variant MELA-AU 7 151103301 151103301 single base substitution C T intron_variant MELA-AU 7 151103304 151103304 single base substitution G A downstream_gene_variant MELA-AU 7 151103304 151103304 single base substitution G A intron_variant MELA-AU 7 151103522 151103522 single base substitution C T downstream_gene_variant MELA-AU 7 151103522 151103522 single base substitution C T intron_variant MELA-AU 7 151103536 151103537 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 151103536 151103537 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 151103678 151103678 single base substitution C T downstream_gene_variant MELA-AU 7 151103678 151103678 single base substitution C T intron_variant MELA-AU 7 151104009 151104009 single base substitution T G downstream_gene_variant MELA-AU 7 151104009 151104009 single base substitution T G intron_variant MELA-AU 7 151104031 151104031 single base substitution C T downstream_gene_variant MELA-AU 7 151104031 151104031 single base substitution C T intron_variant MELA-AU 7 151104167 151104167 single base substitution C T downstream_gene_variant MELA-AU 7 151104167 151104167 single base substitution C T intron_variant MELA-AU 7 151104169 151104169 single base substitution C T downstream_gene_variant MELA-AU 7 151104169 151104169 single base substitution C T intron_variant MELA-AU 7 151104251 151104251 single base substitution C T downstream_gene_variant MELA-AU 7 151104251 151104251 single base substitution C T intron_variant MELA-AU 7 151104341 151104341 single base substitution G A downstream_gene_variant MELA-AU 7 151104341 151104341 single base substitution G A intron_variant MELA-AU 7 151104343 151104343 single base substitution G A downstream_gene_variant MELA-AU 7 151104343 151104343 single base substitution G A intron_variant MELA-AU 7 151104417 151104417 single base substitution G A downstream_gene_variant MELA-AU 7 151104417 151104417 single base substitution G A intron_variant MELA-AU 7 151104563 151104563 single base substitution A C downstream_gene_variant MELA-AU 7 151104563 151104563 single base substitution A C intron_variant MELA-AU 7 151104566 151104566 single base substitution C T downstream_gene_variant MELA-AU 7 151104566 151104566 single base substitution C T intron_variant MELA-AU 7 151104881 151104881 single base substitution C T downstream_gene_variant MELA-AU 7 151104881 151104881 single base substitution C T intron_variant MELA-AU 7 151104915 151104915 single base substitution G A downstream_gene_variant MELA-AU 7 151104915 151104915 single base substitution G A intron_variant MELA-AU 7 151105566 151105566 single base substitution G A downstream_gene_variant MELA-AU 7 151105566 151105566 single base substitution G A intron_variant MELA-AU 7 151105734 151105734 single base substitution G A downstream_gene_variant MELA-AU 7 151105734 151105734 single base substitution G A exon_variant MELA-AU 7 151105734 151105734 single base substitution G A intron_variant MELA-AU 7 151105752 151105752 single base substitution G A downstream_gene_variant MELA-AU 7 151105752 151105752 single base substitution G A exon_variant MELA-AU 7 151105752 151105752 single base substitution G A intron_variant MELA-AU 7 151106211 151106211 single base substitution G A intron_variant MELA-AU 7 151107062 151107063 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 7 151107062 151107063 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 7 151107062 151107063 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 151107062 151107063 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 151107190 151107190 single base substitution C T intron_variant MELA-AU 7 151107190 151107190 single base substitution C T upstream_gene_variant MELA-AU 7 151107595 151107595 single base substitution C T intron_variant MELA-AU 7 151107595 151107595 single base substitution C T upstream_gene_variant MELA-AU 7 151108064 151108064 single base substitution C T upstream_gene_variant MELA-AU 7 151108160 151108160 single base substitution G A upstream_gene_variant MELA-AU 7 151108222 151108222 single base substitution G A upstream_gene_variant MELA-AU 7 151108261 151108261 single base substitution C T upstream_gene_variant MELA-AU 7 151108393 151108393 single base substitution C G upstream_gene_variant MELA-AU 7 151108395 151108395 single base substitution C T upstream_gene_variant MELA-AU 7 151108417 151108419 deletion of <=200bp TAG - upstream_gene_variant MELA-AU 7 151108622 151108622 single base substitution C T upstream_gene_variant MELA-AU 7 151108709 151108709 single base substitution T C upstream_gene_variant MELA-AU 7 151108924 151108924 single base substitution C T upstream_gene_variant MELA-AU 7 151108951 151108951 single base substitution C T upstream_gene_variant MELA-AU 7 151109116 151109116 single base substitution G A upstream_gene_variant MELA-AU 7 151109145 151109145 single base substitution C T upstream_gene_variant MELA-AU 7 151109171 151109171 single base substitution C T upstream_gene_variant MELA-AU 7 151109188 151109188 single base substitution C T upstream_gene_variant MELA-AU 7 151109253 151109253 single base substitution G A upstream_gene_variant MELA-AU 7 151109361 151109361 single base substitution G A upstream_gene_variant MELA-AU 7 151109922 151109923 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 151110202 151110202 single base substitution G A upstream_gene_variant MELA-AU 7 151110851 151110851 single base substitution C T upstream_gene_variant MELA-AU 7 151110914 151110914 single base substitution C T upstream_gene_variant MELA-AU 7 151111220 151111220 single base substitution A G upstream_gene_variant MELA-AU 7 151111303 151111303 single base substitution C T upstream_gene_variant MELA-AU 7 151111526 151111526 single base substitution C T upstream_gene_variant MELA-AU 7 151111706 151111706 single base substitution G A upstream_gene_variant MELA-AU 7 151111756 151111756 single base substitution A G upstream_gene_variant MELA-AU 7 151111917 151111917 single base substitution C T upstream_gene_variant MELA-AU 7 151111925 151111925 single base substitution G A upstream_gene_variant MELA-AU 7 151112042 151112042 single base substitution G A upstream_gene_variant MELA-AU 7 151112042 151112042 single base substitution G C upstream_gene_variant MELA-AU 7 151112053 151112053 single base substitution C T upstream_gene_variant MELA-AU 7 151112253 151112253 single base substitution A G upstream_gene_variant MELA-AU 7 151112425 151112425 single base substitution C G upstream_gene_variant MELA-AU 7 151112679 151112679 single base substitution C T upstream_gene_variant ORCA-IN 7 151071204 151071204 single base substitution G A downstream_gene_variant ORCA-IN 7 151086856 151086856 single base substitution C T intron_variant ORCA-IN 7 151092941 151092941 single base substitution G T exon_variant ORCA-IN 7 151092941 151092941 single base substitution G T missense_variant T216N 647C>A ORCA-IN 7 151092941 151092941 single base substitution G T missense_variant T88N 263C>A OV-AU 7 151068876 151068876 single base substitution C G downstream_gene_variant OV-AU 7 151085276 151085276 single base substitution C T intron_variant OV-AU 7 151092710 151092710 single base substitution C A intron_variant OV-AU 7 151095167 151095167 single base substitution G T intron_variant OV-AU 7 151095167 151095167 single base substitution G T upstream_gene_variant OV-AU 7 151098846 151098846 single base substitution C A intron_variant OV-AU 7 151098992 151098992 single base substitution G A intron_variant OV-AU 7 151102583 151102583 single base substitution T G downstream_gene_variant OV-AU 7 151102583 151102583 single base substitution T G intron_variant OV-AU 7 151103470 151103470 single base substitution G A downstream_gene_variant OV-AU 7 151103470 151103470 single base substitution G A intron_variant OV-AU 7 151108220 151108220 single base substitution T C upstream_gene_variant OV-AU 7 151108247 151108247 single base substitution G A upstream_gene_variant OV-AU 7 151108670 151108670 single base substitution C A upstream_gene_variant OV-AU 7 151112221 151112221 single base substitution G C upstream_gene_variant PACA-AU 7 151068450 151068450 insertion of <=200bp - C downstream_gene_variant PACA-AU 7 151071590 151071590 single base substitution C A downstream_gene_variant PACA-AU 7 151071888 151071888 single base substitution G A downstream_gene_variant PACA-AU 7 151076918 151076918 single base substitution C T downstream_gene_variant PACA-AU 7 151076918 151076918 single base substitution C T intron_variant PACA-AU 7 151081526 151081526 single base substitution G A intron_variant PACA-AU 7 151085237 151085237 single base substitution G T intron_variant PACA-AU 7 151089250 151089250 single base substitution G A intron_variant PACA-AU 7 151091188 151091188 single base substitution G A intron_variant PACA-AU 7 151092154 151092154 single base substitution G A intron_variant PACA-AU 7 151092194 151092194 single base substitution C T intron_variant PACA-AU 7 151092579 151092579 insertion of <=200bp - GG intron_variant PACA-AU 7 151092665 151092665 single base substitution C A intron_variant PACA-AU 7 151094932 151094932 single base substitution G A intron_variant PACA-AU 7 151094932 151094932 single base substitution G A upstream_gene_variant PACA-AU 7 151097193 151097193 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 7 151097193 151097193 single base substitution C T missense_variant V100M 298G>A PACA-AU 7 151097193 151097193 single base substitution C T upstream_gene_variant PACA-AU 7 151099692 151099692 single base substitution G A intron_variant PACA-AU 7 151099959 151099959 single base substitution C T intron_variant PACA-AU 7 151100697 151100697 single base substitution C G downstream_gene_variant PACA-AU 7 151100697 151100697 single base substitution C G intron_variant PACA-AU 7 151105417 151105417 single base substitution G C downstream_gene_variant PACA-AU 7 151105417 151105417 single base substitution G C intron_variant PACA-AU 7 151105835 151105835 single base substitution G A downstream_gene_variant PACA-AU 7 151105835 151105835 single base substitution G A exon_variant PACA-AU 7 151105835 151105835 single base substitution G A intron_variant PACA-AU 7 151110333 151110333 single base substitution C A upstream_gene_variant PACA-AU 7 151112811 151112811 single base substitution T C upstream_gene_variant PACA-CA 7 151070641 151070641 single base substitution A G downstream_gene_variant PACA-CA 7 151073799 151073799 single base substitution A G downstream_gene_variant PACA-CA 7 151073799 151073799 single base substitution A G exon_variant PACA-CA 7 151075717 151075717 single base substitution A G downstream_gene_variant PACA-CA 7 151075717 151075717 single base substitution A G intron_variant PACA-CA 7 151077694 151077694 single base substitution G A downstream_gene_variant PACA-CA 7 151077694 151077694 single base substitution G A intron_variant PACA-CA 7 151079703 151079703 single base substitution T C intron_variant PACA-CA 7 151080849 151080849 single base substitution C T intron_variant PACA-CA 7 151083114 151083114 single base substitution G A intron_variant PACA-CA 7 151083418 151083418 single base substitution C T intron_variant PACA-CA 7 151084048 151084048 single base substitution C T intron_variant PACA-CA 7 151084323 151084323 single base substitution G A intron_variant PACA-CA 7 151084681 151084681 single base substitution T C intron_variant PACA-CA 7 151086722 151086722 single base substitution G A intron_variant PACA-CA 7 151088380 151088380 single base substitution C T intron_variant PACA-CA 7 151092720 151092720 single base substitution G A intron_variant PACA-CA 7 151094211 151094211 single base substitution C T intron_variant PACA-CA 7 151094211 151094211 single base substitution C T upstream_gene_variant PACA-CA 7 151094489 151094489 single base substitution G T intron_variant PACA-CA 7 151094489 151094489 single base substitution G T upstream_gene_variant PACA-CA 7 151095174 151095174 single base substitution T G intron_variant PACA-CA 7 151095174 151095174 single base substitution T G upstream_gene_variant PACA-CA 7 151095438 151095448 deletion of <=200bp TATGTTGTGTA - intron_variant PACA-CA 7 151095438 151095448 deletion of <=200bp TATGTTGTGTA - upstream_gene_variant PACA-CA 7 151095625 151095629 deletion of <=200bp TATGT - intron_variant PACA-CA 7 151095625 151095629 deletion of <=200bp TATGT - upstream_gene_variant PACA-CA 7 151097865 151097865 single base substitution A G intron_variant PACA-CA 7 151097865 151097865 single base substitution A G upstream_gene_variant PACA-CA 7 151102313 151102313 single base substitution C T downstream_gene_variant PACA-CA 7 151102313 151102313 single base substitution C T intron_variant PACA-CA 7 151102680 151102680 single base substitution T C downstream_gene_variant PACA-CA 7 151102680 151102680 single base substitution T C intron_variant PACA-CA 7 151106574 151106574 single base substitution G A exon_variant PACA-CA 7 151106574 151106574 single base substitution G A intron_variant PACA-CA 7 151106574 151106574 single base substitution G A synonymous_variant S34S 102C>T PACA-CA 7 151107203 151107203 single base substitution G A intron_variant PACA-CA 7 151107203 151107203 single base substitution G A upstream_gene_variant PACA-CA 7 151108864 151108864 single base substitution A G upstream_gene_variant PACA-CA 7 151110014 151110014 single base substitution G A upstream_gene_variant PACA-CA 7 151111046 151111046 single base substitution C T upstream_gene_variant PACA-CA 7 151111879 151111879 deletion of <=200bp G - upstream_gene_variant PAEN-AU 7 151074783 151074783 single base substitution A C downstream_gene_variant PAEN-AU 7 151074783 151074783 single base substitution A C intron_variant PAEN-AU 7 151074929 151074929 single base substitution G T downstream_gene_variant PAEN-AU 7 151074929 151074929 single base substitution G T intron_variant PAEN-AU 7 151092600 151092600 single base substitution C G intron_variant PAEN-AU 7 151109615 151109615 single base substitution T G upstream_gene_variant PAEN-IT 7 151072746 151072746 single base substitution C A downstream_gene_variant PAEN-IT 7 151078907 151078907 single base substitution G A intron_variant PAEN-IT 7 151105443 151105443 single base substitution C T downstream_gene_variant PAEN-IT 7 151105443 151105443 single base substitution C T intron_variant PAEN-IT 7 151110438 151110438 single base substitution G C upstream_gene_variant PBCA-DE 7 151072064 151072064 single base substitution A G downstream_gene_variant PBCA-DE 7 151075340 151075340 single base substitution G A downstream_gene_variant PBCA-DE 7 151075340 151075340 single base substitution G A intron_variant PBCA-DE 7 151082240 151082240 single base substitution C T intron_variant PBCA-DE 7 151082240 151082240 single base substitution C T missense_variant E266K 796G>A PBCA-DE 7 151082240 151082240 single base substitution C T missense_variant G287E 860G>A PBCA-DE 7 151082767 151082767 single base substitution C A intron_variant PBCA-DE 7 151087422 151087422 single base substitution G C intron_variant PBCA-DE 7 151094742 151094742 insertion of <=200bp - AG intron_variant PBCA-DE 7 151094742 151094742 insertion of <=200bp - AG upstream_gene_variant PBCA-DE 7 151094891 151094891 single base substitution A G intron_variant PBCA-DE 7 151094891 151094891 single base substitution A G upstream_gene_variant PBCA-DE 7 151095656 151095657 deletion of <=200bp TT - intron_variant PBCA-DE 7 151095656 151095657 deletion of <=200bp TT - upstream_gene_variant PBCA-DE 7 151100657 151100657 deletion of <=200bp A - downstream_gene_variant PBCA-DE 7 151100657 151100657 deletion of <=200bp A - intron_variant PBCA-DE 7 151109591 151109592 deletion of <=200bp TG - upstream_gene_variant PBCA-DE 7 151110509 151110509 single base substitution G T upstream_gene_variant PRAD-CA 7 151074482 151074482 single base substitution G C downstream_gene_variant PRAD-CA 7 151074482 151074482 single base substitution G C intron_variant PRAD-CA 7 151092598 151092598 single base substitution C G intron_variant PRAD-CA 7 151094718 151094718 single base substitution G A intron_variant PRAD-CA 7 151094718 151094718 single base substitution G A upstream_gene_variant PRAD-CA 7 151094856 151094856 single base substitution C T intron_variant PRAD-CA 7 151094856 151094856 single base substitution C T upstream_gene_variant PRAD-CA 7 151094873 151094873 single base substitution C T intron_variant PRAD-CA 7 151094873 151094873 single base substitution C T upstream_gene_variant PRAD-CA 7 151095765 151095765 single base substitution G T intron_variant PRAD-CA 7 151095765 151095765 single base substitution G T upstream_gene_variant PRAD-CA 7 151099071 151099071 single base substitution C T intron_variant PRAD-CA 7 151104682 151104682 single base substitution C T downstream_gene_variant PRAD-CA 7 151104682 151104682 single base substitution C T intron_variant PRAD-CA 7 151108369 151108369 single base substitution C A upstream_gene_variant PRAD-UK 7 151080691 151080691 single base substitution C T intron_variant PRAD-UK 7 151096454 151096454 single base substitution G A intron_variant PRAD-UK 7 151096454 151096454 single base substitution G A upstream_gene_variant PRAD-UK 7 151106935 151106935 single base substitution C T 5_prime_UTR_variant PRAD-UK 7 151106935 151106935 single base substitution C T exon_variant PRAD-UK 7 151106935 151106935 single base substitution C T intron_variant PRAD-UK 7 151106935 151106935 single base substitution C T upstream_gene_variant PRAD-UK 7 151110809 151110809 single base substitution G A upstream_gene_variant READ-US 7 151092978 151092978 single base substitution G A exon_variant READ-US 7 151092978 151092978 single base substitution G A missense_variant P204S 610C>T READ-US 7 151092978 151092978 single base substitution G A missense_variant P76S 226C>T READ-US 7 151093102 151093102 single base substitution G A synonymous_variant A162A 486C>T READ-US 7 151093102 151093102 single base substitution G A synonymous_variant A34A 102C>T READ-US 7 151093102 151093102 single base substitution G A upstream_gene_variant RECA-EU 7 151078369 151078369 single base substitution A T 3_prime_UTR_variant RECA-EU 7 151078369 151078369 single base substitution A T intron_variant RECA-EU 7 151095504 151095504 single base substitution G A intron_variant RECA-EU 7 151095504 151095504 single base substitution G A upstream_gene_variant RECA-EU 7 151098894 151098894 single base substitution G A intron_variant RECA-EU 7 151100127 151100127 single base substitution T C intron_variant RECA-EU 7 151105284 151105284 single base substitution T C downstream_gene_variant RECA-EU 7 151105284 151105284 single base substitution T C intron_variant RECA-EU 7 151106115 151106115 single base substitution T G exon_variant RECA-EU 7 151106115 151106115 single base substitution T G intron_variant RECA-EU 7 151111784 151111784 single base substitution C T upstream_gene_variant SKCA-BR 7 151069694 151069694 single base substitution A G downstream_gene_variant SKCA-BR 7 151071774 151071774 single base substitution C T downstream_gene_variant SKCA-BR 7 151072140 151072140 single base substitution T G downstream_gene_variant SKCA-BR 7 151073249 151073249 single base substitution T C downstream_gene_variant SKCA-BR 7 151073249 151073249 single base substitution T C exon_variant SKCA-BR 7 151074020 151074020 single base substitution C T downstream_gene_variant SKCA-BR 7 151074020 151074020 single base substitution C T exon_variant SKCA-BR 7 151074021 151074021 single base substitution C T downstream_gene_variant SKCA-BR 7 151074021 151074021 single base substitution C T exon_variant SKCA-BR 7 151076574 151076574 single base substitution A C downstream_gene_variant SKCA-BR 7 151076574 151076574 single base substitution A C intron_variant SKCA-BR 7 151077879 151077879 single base substitution T C downstream_gene_variant SKCA-BR 7 151077879 151077879 single base substitution T C intron_variant SKCA-BR 7 151078881 151078881 single base substitution A G intron_variant SKCA-BR 7 151080559 151080561 deletion of <=200bp CAA - intron_variant SKCA-BR 7 151081898 151081898 single base substitution A T intron_variant SKCA-BR 7 151082068 151082068 single base substitution G A intron_variant SKCA-BR 7 151082239 151082239 single base substitution T A intron_variant SKCA-BR 7 151082239 151082239 single base substitution T A missense_variant E266V 797A>T SKCA-BR 7 151082239 151082239 single base substitution T A synonymous_variant G287G 861A>T SKCA-BR 7 151084591 151084591 single base substitution C T intron_variant SKCA-BR 7 151085583 151085583 single base substitution C T intron_variant SKCA-BR 7 151086116 151086116 single base substitution C T intron_variant SKCA-BR 7 151086644 151086644 single base substitution C T intron_variant SKCA-BR 7 151087466 151087466 single base substitution C T intron_variant SKCA-BR 7 151088127 151088127 single base substitution C T intron_variant SKCA-BR 7 151088194 151088194 single base substitution C T intron_variant SKCA-BR 7 151088477 151088477 single base substitution C T intron_variant SKCA-BR 7 151088622 151088622 single base substitution G A intron_variant SKCA-BR 7 151089723 151089723 single base substitution A C intron_variant SKCA-BR 7 151090740 151090740 single base substitution C T intron_variant SKCA-BR 7 151092581 151092581 single base substitution A G intron_variant SKCA-BR 7 151092582 151092582 single base substitution C G intron_variant SKCA-BR 7 151093597 151093597 single base substitution G A intron_variant SKCA-BR 7 151093597 151093597 single base substitution G A upstream_gene_variant SKCA-BR 7 151093867 151093867 single base substitution C T intron_variant SKCA-BR 7 151093867 151093867 single base substitution C T upstream_gene_variant SKCA-BR 7 151094744 151094744 single base substitution G A intron_variant SKCA-BR 7 151094744 151094744 single base substitution G A upstream_gene_variant SKCA-BR 7 151094764 151094764 single base substitution A G intron_variant SKCA-BR 7 151094764 151094764 single base substitution A G upstream_gene_variant SKCA-BR 7 151095641 151095641 single base substitution G A intron_variant SKCA-BR 7 151095641 151095641 single base substitution G A upstream_gene_variant SKCA-BR 7 151096718 151096718 single base substitution G A intron_variant SKCA-BR 7 151096718 151096718 single base substitution G A upstream_gene_variant SKCA-BR 7 151099764 151099764 single base substitution G T intron_variant SKCA-BR 7 151101209 151101209 single base substitution G A downstream_gene_variant SKCA-BR 7 151101209 151101209 single base substitution G A intron_variant SKCA-BR 7 151104066 151104066 single base substitution C T downstream_gene_variant SKCA-BR 7 151104066 151104066 single base substitution C T intron_variant SKCA-BR 7 151109395 151109395 single base substitution T C upstream_gene_variant SKCA-BR 7 151109955 151109955 single base substitution G A upstream_gene_variant SKCA-BR 7 151110563 151110563 single base substitution G A upstream_gene_variant SKCA-BR 7 151110671 151110671 single base substitution A T upstream_gene_variant SKCA-BR 7 151110757 151110757 single base substitution C T upstream_gene_variant SKCA-BR 7 151110930 151110930 single base substitution G A upstream_gene_variant SKCA-BR 7 151111751 151111751 single base substitution G A upstream_gene_variant SKCM-US 7 151072975 151072975 single base substitution C T downstream_gene_variant SKCM-US 7 151073817 151073817 single base substitution G A downstream_gene_variant SKCM-US 7 151073817 151073817 single base substitution G A exon_variant SKCM-US 7 151073881 151073881 single base substitution C T downstream_gene_variant SKCM-US 7 151073881 151073881 single base substitution C T exon_variant SKCM-US 7 151074236 151074236 single base substitution G A downstream_gene_variant SKCM-US 7 151074236 151074236 single base substitution G A intron_variant SKCM-US 7 151082316 151082316 single base substitution G A intron_variant SKCM-US 7 151082316 151082316 single base substitution G A missense_variant L262F 784C>T SKCM-US 7 151082316 151082316 single base substitution G A splice_region_variant SKCM-US 7 151082370 151082370 single base substitution C T intron_variant SKCM-US 7 151082370 151082370 single base substitution C T missense_variant E244K 730G>A SKCM-US 7 151093146 151093146 single base substitution G A missense_variant P148S 442C>T SKCM-US 7 151093146 151093146 single base substitution G A missense_variant P20S 58C>T SKCM-US 7 151093146 151093146 single base substitution G A upstream_gene_variant SKCM-US 7 151093230 151093230 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 7 151093230 151093230 single base substitution G A missense_variant R120W 358C>T SKCM-US 7 151093230 151093230 single base substitution G A upstream_gene_variant SKCM-US 7 151097249 151097249 single base substitution C T 5_prime_UTR_variant SKCM-US 7 151097249 151097249 single base substitution C T missense_variant R81K 242G>A SKCM-US 7 151097249 151097249 single base substitution C T upstream_gene_variant SKCM-US 7 151097258 151097258 single base substitution G A 5_prime_UTR_variant SKCM-US 7 151097258 151097258 single base substitution G A missense_variant T78I 233C>T SKCM-US 7 151097258 151097258 single base substitution G A upstream_gene_variant STAD-US 7 151072987 151072987 single base substitution C T downstream_gene_variant STAD-US 7 151074269 151074269 single base substitution A G downstream_gene_variant STAD-US 7 151074269 151074269 single base substitution A G intron_variant STAD-US 7 151082222 151082222 single base substitution T C intron_variant STAD-US 7 151082222 151082222 single base substitution T C missense_variant H293R 878A>G STAD-US 7 151082222 151082222 single base substitution T C missense_variant T272A 814A>G STAD-US 7 151093046 151093046 single base substitution G A missense_variant A181V 542C>T STAD-US 7 151093046 151093046 single base substitution G A missense_variant A53V 158C>T STAD-US 7 151093046 151093046 single base substitution G A upstream_gene_variant STAD-US 7 151093060 151093060 single base substitution C A missense_variant K176N 528G>T STAD-US 7 151093060 151093060 single base substitution C A missense_variant K48N 144G>T STAD-US 7 151093060 151093060 single base substitution C A upstream_gene_variant STAD-US 7 151093119 151093119 single base substitution C T missense_variant A157T 469G>A STAD-US 7 151093119 151093119 single base substitution C T missense_variant A29T 85G>A STAD-US 7 151093119 151093119 single base substitution C T upstream_gene_variant STAD-US 7 151093229 151093229 single base substitution C T 5_prime_UTR_variant STAD-US 7 151093229 151093229 single base substitution C T missense_variant R120Q 359G>A STAD-US 7 151093229 151093229 single base substitution C T upstream_gene_variant THCA-SA 7 151074261 151074261 single base substitution G A downstream_gene_variant THCA-SA 7 151074261 151074261 single base substitution G A intron_variant THCA-SA 7 151074296 151074296 single base substitution A G downstream_gene_variant THCA-SA 7 151074296 151074296 single base substitution A G intron_variant UCEC-US 7 151071223 151071223 single base substitution G T downstream_gene_variant UCEC-US 7 151072939 151072939 single base substitution G A downstream_gene_variant UCEC-US 7 151079030 151079030 single base substitution G A intron_variant UCEC-US 7 151079030 151079030 single base substitution G A missense_variant S127L 380C>T UCEC-US 7 151079030 151079030 single base substitution G A stop_gained R322* 964C>T UCEC-US 7 151079030 151079030 single base substitution G A synonymous_variant F300F 900C>T UCEC-US 7 151093272 151093272 single base substitution C T 5_prime_UTR_variant UCEC-US 7 151093272 151093272 single base substitution C T missense_variant A106T 316G>A UCEC-US 7 151093272 151093272 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-CI-6621-01 COSM1568513 c.486C>T p.A162A Substitution - coding silent 7:151396016-151396016 - OSCC-GB_00920111 COSM4881730 c.647C>A p.T216N Substitution - Missense 7:151395855-151395855 - TCGA-F4-6809-01 COSM1488384 c.470C>T p.A157V Substitution - Missense 7:151396032-151396032 - T2284 COSM1699605 c.652C>T p.R218C Substitution - Missense 7:151395850-151395850 - ICGC_MB56 COSM3765339 c.796G>A p.E266K Substitution - Missense 7:151385154-151385154 - 2492713 COSM5607210 c.445T>C p.W149R Substitution - Missense 7:151396057-151396057 - CSB20 COSM5026853 c.612C>T p.P204P Substitution - coding silent 7:151395890-151395890 - TCGA-D1-A177-01 COSM1154794 c.316G>A p.A106T Substitution - Missense 7:151396186-151396186 - CHC465T COSM3669708 c.978G>A p.Q326Q Substitution - coding silent 7:151381735-151381735 - SS6003311 COSM3414002 c.504C>T p.T168T Substitution - coding silent 7:151395998-151395998 - PCSI_0056_Pa_X COSM3381864 c.102C>T p.S34S Substitution - coding silent 7:151409488-151409488 - HT55 COSM3262121 c.929T>A p.V310E Substitution - Missense 7:151381915-151381915 - TCGA-FW-A3R5-06 COSM3923186 c.242G>A p.R81K Substitution - Missense 7:151400163-151400163 - S01453 COSM5668599 c.873C>A p.G291G Substitution - coding silent 7:151381971-151381971 - 2492712 COSM5607210 c.445T>C p.W149R Substitution - Missense 7:151396057-151396057 - TCGA-EE-A2M5-06 COSM3262152 c.358C>T p.R120W Substitution - Missense 7:151396144-151396144 - HCC28T COSM1622584 c.129C>A p.S43R Substitution - Missense 7:151409461-151409461 - CHC465T COSM3669708 c.978G>A p.Q326Q Substitution - coding silent 7:151381735-151381735 - sysucc-1397T COSM5475023 c.468C>T p.C156C Substitution - coding silent 7:151396034-151396034 - SJOS001119_D1 COSM5023907 c.303C>T p.N101N Substitution - coding silent 7:151400102-151400102 - Au1 COSM5597893 c.309C>T p.I103I Substitution - coding silent 7:151396193-151396193 - TCGA-F1-6874-01 COSM3879461 c.528G>T p.K176N Substitution - Missense 7:151395974-151395974 - BD124T COSM5492334 c.520A>G p.T174A Substitution - Missense 7:151395982-151395982 - TCGA-D3-A2JD-06 COSM3636382 c.727-7C>T p.? Unknown 7:151385230-151385230 - TCGA-22-5473-01 COSM1150631 c.379G>T p.G127W Substitution - Missense 7:151396123-151396123 - TCGA-F5-6814-01 COSM3431399 c.610C>T p.P204S Substitution - Missense 7:151395892-151395892 - TCGA-CK-4952-01 COSM1449342 c.579G>A p.T193T Substitution - coding silent 7:151395923-151395923 - TCGA-D9-A4Z3-01 COSM3636387 c.233C>T p.T78I Substitution - Missense 7:151400172-151400172 - TCGA-06-0644 COSM2151227 c.349C>T p.R117W Substitution - Missense 7:151396153-151396153 - TCGA-22-5473-01 COSM1150635 c.378G>T p.K126N Substitution - Missense 7:151396124-151396124 - HCC28 COSM1622584 c.129C>A p.S43R Substitution - Missense 7:151409461-151409461 - TCGA-AZ-4315-01 COSM1449345 c.469G>A p.A157T Substitution - Missense 7:151396033-151396033 - TCGA-EE-A2GM-06 COSM3636384 c.442C>T p.P148S Substitution - Missense 7:151396060-151396060 - SNU-C2B COSM3262160 c.280C>T p.R94* Substitution - Nonsense 7:151400125-151400125 - HCC159T COSM3663033 c.906G>T p.A302A Substitution - coding silent 7:151381938-151381938 - sysucc-1317T COSM5450364 c.44G>A p.R15H Substitution - Missense 7:151409546-151409546 - YUHAMA COSM5407024 c.693C>T p.F231F Substitution - coding silent 7:151395809-151395809 - YUKLAB COSM1699605 c.652C>T p.R218C Substitution - Missense 7:151395850-151395850 - TCGA-BR-7851-01 COSM1449345 c.469G>A p.A157T Substitution - Missense 7:151396033-151396033 - SH-0622 COSM5017817 c.499delG p.V167fs*1 Deletion - Frameshift 7:151396003-151396003 - 8067541 COSM3262154 c.298G>A p.V100M Substitution - Missense 7:151400107-151400107 - NOKSI COSM4596220 c.695G>A p.R232Q Substitution - Missense 7:151395807-151395807 - TCGA-A1-A0SE-01 COSM1134281 c.384G>A p.Q128Q Substitution - coding silent 7:151396118-151396118 - SNU-175 COSM4650744 c.682C>A p.L228M Substitution - Missense 7:151395820-151395820 - 2492729 COSM5725594 c.325C>T p.Q109* Substitution - Nonsense 7:151396177-151396177 - TCGA-CM-6163-01 COSM1449340 c.853G>A p.A285T Substitution - Missense 7:151385097-151385097 - 2492714 COSM5607210 c.445T>C p.W149R Substitution - Missense 7:151396057-151396057 - T3091 COSM4741109 c.643G>A p.A215T Substitution - Missense 7:151395859-151395859 - HX35T COSM1622584 c.129C>A p.S43R Substitution - Missense 7:151409461-151409461 - TCGA-BR-8487-01 COSM3879458 c.542C>T p.A181V Substitution - Missense 7:151395960-151395960 - ATL038 COSM1488384 c.470C>T p.A157V Substitution - Missense 7:151396032-151396032 - TCGA-74-6573-01 COSM3262164 c.225C>T p.A75A Substitution - coding silent 7:151400180-151400180 - CHC437T COSM4958056 c.593G>A p.C198Y Substitution - Missense 7:151395909-151395909 - 2492711 COSM5607210 c.445T>C p.W149R Substitution - Missense 7:151396057-151396057 - Patient_5_Diagnosis COSM5415187 c.168T>C p.H56H Substitution - coding silent 7:151400237-151400237 - CME_0001_Pa_C COSM3381864 c.102C>T p.S34S Substitution - coding silent 7:151409488-151409488 - LUAD-2GUGK COSM400687 c.287A>T p.H96L Substitution - Missense 7:151400118-151400118 - H384 COSM5044096 c.827G>A p.R276H Substitution - Missense 7:151385123-151385123 - Pat_44_B COSM5872289 c.826C>T p.R276C Substitution - Missense 7:151385124-151385124 - HCC159 COSM3663033 c.906G>T p.A302A Substitution - coding silent 7:151381938-151381938 - 2492728 COSM5725594 c.325C>T p.Q109* Substitution - Nonsense 7:151396177-151396177 - CSCC-60-T COSM4556001 c.675G>A p.G225G Substitution - coding silent 7:151395827-151395827 - RKO COSM4649089 c.322A>G p.N108D Substitution - Missense 7:151396180-151396180 - TCGA-DM-A1DA-01 COSM3762507 c.1064T>C p.M355T Substitution - Missense 7:151381649-151381649 - TCGA-BR-8591-01 COSM3879464 c.359G>A p.R120Q Substitution - Missense 7:151396143-151396143 - TCGA-G3-A5SK-01 COSM4927418 c.360G>C p.R120R Substitution - coding silent 7:151396142-151396142 - TCGA-06-0644-01 COSM2151227 c.349C>T p.R117W Substitution - Missense 7:151396153-151396153 - TCGA-OL-A5S0-01 COSM3832326 c.414C>A p.N138K Substitution - Missense 7:151396088-151396088 - TCGA-G4-6294-01 COSM3762507 c.1064T>C p.M355T Substitution - Missense 7:151381649-151381649 - LP6005935-DNA_C03 COSM5035941 c.12C>T p.G4G Substitution - coding silent 7:151409578-151409578 - pfg167T COSM4762585 c.112A>C p.T38P Substitution - Missense 7:151409478-151409478 - S02120 COSM5673810 c.1052C>A p.P351H Substitution - Missense 7:151381661-151381661 - CHC437T COSM5347998 c.595delC p.L199fs*1 Deletion - Frameshift 7:151395907-151395907 - NCI-H720 COSM3262152 c.358C>T p.R120W Substitution - Missense 7:151396144-151396144 - TCGA-AX-A06H-01 COSM1154796 c.231C>T p.C77C Substitution - coding silent 7:151400174-151400174 - TCGA-BR-8363-01 COSM3879456 c.814A>G p.T272A Substitution - Missense 7:151385136-151385136 - sysucc-773T COSM5460255 c.177T>C p.Y59Y Substitution - coding silent 7:151400228-151400228 - TCGA-BP-4162-01 COSM1137659 c.714C>T p.V238V Substitution - coding silent 7:151395788-151395788 - TCGA-D5-6540-01 COSM1449348 c.149G>A p.C50Y Substitution - Missense 7:151409441-151409441 - TCGA-BS-A0UV-01 COSM1596906 c.900C>T p.F300F Substitution - coding silent 7:151381944-151381944 - TCGA-37-3783-01 COSM1150629 c.408C>A p.H136Q Substitution - Missense 7:151396094-151396094 - CHC437T COSM4958056 c.593G>A p.C198Y Substitution - Missense 7:151395909-151395909 - Au8 COSM5607210 c.445T>C p.W149R Substitution - Missense 7:151396057-151396057 - 27 COSM2151227 c.349C>T p.R117W Substitution - Missense 7:151396153-151396153 - TCGA-18-3409-01 COSM1150627 c.471G>A p.A157A Substitution - coding silent 7:151396031-151396031 - TCGA-DA-A1HV-06 COSM3636384 c.442C>T p.P148S Substitution - Missense 7:151396060-151396060 - 2492730 COSM5725594 c.325C>T p.Q109* Substitution - Nonsense 7:151396177-151396177 - 2492727 COSM5725594 c.325C>T p.Q109* Substitution - Nonsense 7:151396177-151396177 - S02342 COSM5693030 c.539T>G p.V180G Substitution - Missense 7:151395963-151395963 - C32 COSM4619306 c.481G>A p.A161T Substitution - Missense 7:151396021-151396021 - CRC-06T COSM5457311 c.447G>T p.W149C Substitution - Missense 7:151396055-151396055 - LOVO COSM3262147 c.409C>T p.R137C Substitution - Missense 7:151396093-151396093 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.647083 7q36.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.G127W c.379G>T 7 151093209 LUSC C A Missense p.K126N c.378G>T 7 151093210 LUSC C A Missense p.K176N c.528G>T 7 151093060 STAD C - Frameshift p.D150Tfs*18 c.448delG 7 151093140 COREAD C T Missense p.A106T c.316G>A 7 151093272 UCEC C T Missense p.E266K c.796G>A 7 151082240 MB C T Synonymous p.Q128Q c.384G>A 7 151093204 BRCA G A IntronicSNV . c.726+4283C>T 7 151088579 CLL G A Missense p.A157V c.470C>T 7 151093118 BRCA G A Missense p.P148S c.442C>T 7 151093146 CM G A Missense p.P155S c.463C>T 7 151093125 CM G A Missense p.R117W c.349C>T 7 151093239 GBM G A Missense p.R120W c.358C>T 7 151093230 CM G A Synonymous p.A75A c.225C>T 7 151097266 GBM G A Synonymous p.P204P c.612C>T 7 151092976 BRCA G A Synonymous p.V238V c.714C>T 7 151092874 RCCC GG AA Missense p.P148L c.442_443delinsTT 7 151093145 CM - GG IntronicInsertion . c.726+282_726+283dupCC 7 151092579 CM G T IntronicSNV . c.727-22C>A 7 151082331 MM G T Missense p.H136Q c.408C>A 7 151093180 LUSC