Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 8 59488493 59488493 + Missense_Mutation SNP T T C TCGA-XF-A9SZ-01A-11D-A391-08 TCGA-XF-A9SZ-10A-01D-A394-08 g.chr8:59488493T>C c.275T>C c.(274-276)aTg>aCg p.M92T BLCA 8 59492193 59492193 + Missense_Mutation SNP G G A TCGA-BL-A5ZZ-01A-31D-A30E-08 TCGA-BL-A5ZZ-10A-01D-A30H-08 g.chr8:59492193G>A c.590G>A c.(589-591)cGg>cAg p.R197Q BLCA 8 59492297 59492297 + Missense_Mutation SNP C C G TCGA-KQ-A41P-01A-12D-A339-08 TCGA-KQ-A41P-10F-01D-A339-08 g.chr8:59492297C>G c.694C>G c.(694-696)Ctt>Gtt p.L232V BLCA 8 59492300 59492300 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr8:59492300C>T c.697C>T c.(697-699)Ctc>Ttc p.L233F BLCA 8 59494245 59494245 + Splice_Site SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 g.chr8:59494245G>C c.843G>C c.(841-843)cgG>cgC p.R281R BRCA 8 59492212 59492212 + Silent SNP G G A TCGA-AN-A0FW-01A-11W-A050-09 TCGA-AN-A0FW-10A-01W-A055-09 g.chr8:59492212G>A c.609G>A c.(607-609)aaG>aaA p.K203K CESC 8 59484844 59484844 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 g.chr8:59484844G>T c.211G>T c.(211-213)Gcc>Tcc p.A71S CESC 8 59490703 59490703 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr8:59490703G>C c.514G>C c.(514-516)Gat>Cat p.D172H CESC 8 59493158 59493158 + Missense_Mutation SNP T T C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 g.chr8:59493158T>C c.833T>C c.(832-834)aTt>aCt p.I278T COAD 8 59488596 59488596 + Silent SNP A A T TCGA-AD-6548-01A-11D-1835-10 TCGA-AD-6548-10A-01D-1835-10 g.chr8:59488596A>T c.378A>T c.(376-378)ggA>ggT p.G126G COAD 8 59493166 59493166 + Splice_Site SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr8:59493166C>T c.841C>T c.(841-843)Cgg>Tgg p.R281W COADREAD 8 59488596 59488596 + Silent SNP A A T TCGA-AD-6548-01A-11D-1835-10 TCGA-AD-6548-10A-01D-1835-10 g.chr8:59488596A>T c.378A>T c.(376-378)ggA>ggT p.G126G COADREAD 8 59493166 59493166 + Splice_Site SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr8:59493166C>T c.841C>T c.(841-843)Cgg>Tgg p.R281W ESCA 8 59484765 59484765 + Splice_Site SNP T T C TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 g.chr8:59484765T>C c.132T>C c.(130-132)aaT>aaC p.N44N ESCA 8 59493135 59493135 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 g.chr8:59493135G>T c.810G>T c.(808-810)atG>atT p.M270I GBM 8 59492353 59492353 + Splice_Site SNP G G A TCGA-06-0876-01A-01W-0424-08 TCGA-06-0876-10A-01W-0424-08 g.chr8:59492353G>A c.750G>A c.(748-750)aaG>aaA p.K250K GBMLGG 8 59492353 59492353 + Splice_Site SNP G G A TCGA-06-0876-01A-01W-0424-08 TCGA-06-0876-10A-01W-0424-08 g.chr8:59492353G>A c.750G>A c.(748-750)aaG>aaA p.K250K HNSC 8 59492228 59492228 + Missense_Mutation SNP G G A TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 g.chr8:59492228G>A c.625G>A c.(625-627)Gtt>Att p.V209I HNSC 8 59492285 59492285 + Missense_Mutation SNP G G T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr8:59492285G>T c.682G>T c.(682-684)Gcc>Tcc p.A228S HNSC 8 59494271 59494271 + Missense_Mutation SNP T T C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 g.chr8:59494271T>C c.869T>C c.(868-870)cTa>cCa p.L290P PAAD 8 59484848 59484848 + Missense_Mutation SNP T T C TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 g.chr8:59484848T>C c.215T>C c.(214-216)gTg>gCg p.V72A PRAD 8 59490716 59490716 + Missense_Mutation SNP A A T TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 g.chr8:59490716A>T c.527A>T c.(526-528)aAg>aTg p.K176M

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 8 59496716 59496716 single base substitution G C downstream_gene_variant BLCA-US 8 59494245 59494245 single base substitution G C downstream_gene_variant BLCA-US 8 59494245 59494245 single base substitution G C splice_region_variant BOCA-FR 8 59485174 59485174 single base substitution A G downstream_gene_variant BOCA-FR 8 59485174 59485174 single base substitution A G intron_variant BRCA-EU 8 59462085 59462085 single base substitution C T upstream_gene_variant BRCA-EU 8 59462133 59462133 deletion of <=200bp T - upstream_gene_variant BRCA-EU 8 59463057 59463057 single base substitution C G upstream_gene_variant BRCA-EU 8 59463405 59463405 single base substitution T C upstream_gene_variant BRCA-EU 8 59464927 59464927 single base substitution T C upstream_gene_variant BRCA-EU 8 59466275 59466275 single base substitution C T intron_variant BRCA-EU 8 59467616 59467616 single base substitution T C intron_variant BRCA-EU 8 59468597 59468597 single base substitution T A intron_variant BRCA-EU 8 59468728 59468728 single base substitution G A intron_variant BRCA-EU 8 59468735 59468748 deletion of <=200bp GGGACTGGTTTCAT - intron_variant BRCA-EU 8 59470577 59470577 single base substitution G T intron_variant BRCA-EU 8 59471236 59471236 single base substitution T C intron_variant BRCA-EU 8 59472202 59472202 single base substitution A C intron_variant BRCA-EU 8 59472602 59472602 single base substitution G T intron_variant BRCA-EU 8 59472602 59472602 single base substitution G T upstream_gene_variant BRCA-EU 8 59473301 59473301 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 8 59473301 59473301 single base substitution C G intron_variant BRCA-EU 8 59473301 59473301 single base substitution C G upstream_gene_variant BRCA-EU 8 59473487 59473487 single base substitution C T 5_prime_UTR_variant BRCA-EU 8 59473487 59473487 single base substitution C T intron_variant BRCA-EU 8 59473487 59473487 single base substitution C T upstream_gene_variant BRCA-EU 8 59474981 59474981 single base substitution C T intron_variant BRCA-EU 8 59474981 59474981 single base substitution C T upstream_gene_variant BRCA-EU 8 59475887 59475887 single base substitution C T intron_variant BRCA-EU 8 59475887 59475887 single base substitution C T upstream_gene_variant BRCA-EU 8 59477955 59477955 single base substitution C G intron_variant BRCA-EU 8 59478759 59478759 single base substitution C G intron_variant BRCA-EU 8 59478759 59478759 single base substitution C G upstream_gene_variant BRCA-EU 8 59480189 59480189 single base substitution T A intron_variant BRCA-EU 8 59480189 59480189 single base substitution T A upstream_gene_variant BRCA-EU 8 59480673 59480673 single base substitution C T intron_variant BRCA-EU 8 59480673 59480673 single base substitution C T upstream_gene_variant BRCA-EU 8 59481602 59481602 deletion of <=200bp A - intron_variant BRCA-EU 8 59481602 59481602 deletion of <=200bp A - upstream_gene_variant BRCA-EU 8 59482093 59482093 single base substitution C G intron_variant BRCA-EU 8 59482093 59482093 single base substitution C G upstream_gene_variant BRCA-EU 8 59482741 59482741 single base substitution G A intron_variant BRCA-EU 8 59482741 59482741 single base substitution G A upstream_gene_variant BRCA-EU 8 59482818 59482818 single base substitution T C intron_variant BRCA-EU 8 59482818 59482818 single base substitution T C upstream_gene_variant BRCA-EU 8 59483158 59483161 deletion of <=200bp ATTA - intron_variant BRCA-EU 8 59483158 59483161 deletion of <=200bp ATTA - upstream_gene_variant BRCA-EU 8 59483602 59483602 deletion of <=200bp T - intron_variant BRCA-EU 8 59484886 59484889 deletion of <=200bp TAAT - downstream_gene_variant BRCA-EU 8 59484886 59484889 deletion of <=200bp TAAT - intron_variant BRCA-EU 8 59487245 59487245 single base substitution C A downstream_gene_variant BRCA-EU 8 59487245 59487245 single base substitution C A intron_variant BRCA-EU 8 59487245 59487245 single base substitution C A upstream_gene_variant BRCA-EU 8 59489373 59489373 single base substitution C T downstream_gene_variant BRCA-EU 8 59489373 59489373 single base substitution C T intron_variant BRCA-EU 8 59489373 59489373 single base substitution C T upstream_gene_variant BRCA-EU 8 59489952 59489952 single base substitution T C downstream_gene_variant BRCA-EU 8 59489952 59489952 single base substitution T C intron_variant BRCA-EU 8 59489952 59489952 single base substitution T C upstream_gene_variant BRCA-EU 8 59490801 59490801 single base substitution C A downstream_gene_variant BRCA-EU 8 59490801 59490801 single base substitution C A exon_variant BRCA-EU 8 59490801 59490801 single base substitution C A intron_variant BRCA-EU 8 59491659 59491659 single base substitution A C downstream_gene_variant BRCA-EU 8 59491659 59491659 single base substitution A C intron_variant BRCA-EU 8 59492220 59492220 single base substitution C G downstream_gene_variant BRCA-EU 8 59492220 59492220 single base substitution C G exon_variant BRCA-EU 8 59492220 59492220 single base substitution C G missense_variant T147S 440C>G BRCA-EU 8 59492220 59492220 single base substitution C G missense_variant T152S 455C>G BRCA-EU 8 59492220 59492220 single base substitution C G missense_variant T200S 599C>G BRCA-EU 8 59492220 59492220 single base substitution C G missense_variant T205S 614C>G BRCA-EU 8 59492220 59492220 single base substitution C G missense_variant T206S 617C>G BRCA-EU 8 59492220 59492220 single base substitution C G missense_variant T226S 677C>G BRCA-EU 8 59492804 59492804 deletion of <=200bp A - downstream_gene_variant BRCA-EU 8 59492804 59492804 deletion of <=200bp A - intron_variant BRCA-EU 8 59493346 59493346 single base substitution C T downstream_gene_variant BRCA-EU 8 59493346 59493346 single base substitution C T intron_variant BRCA-EU 8 59493720 59493720 single base substitution T A downstream_gene_variant BRCA-EU 8 59493720 59493720 single base substitution T A intron_variant BRCA-EU 8 59495444 59495444 single base substitution A C downstream_gene_variant BRCA-EU 8 59495930 59495930 single base substitution C G downstream_gene_variant BRCA-EU 8 59497023 59497023 single base substitution C A downstream_gene_variant BRCA-EU 8 59498151 59498151 single base substitution G T downstream_gene_variant BRCA-EU 8 59498174 59498174 single base substitution G C downstream_gene_variant BRCA-EU 8 59498654 59498654 single base substitution C G downstream_gene_variant BRCA-EU 8 59499203 59499203 single base substitution G C downstream_gene_variant BRCA-EU 8 59499334 59499334 single base substitution A G downstream_gene_variant BRCA-EU 8 59499335 59499335 single base substitution C A downstream_gene_variant BRCA-FR 8 59461790 59461790 single base substitution C T upstream_gene_variant BRCA-FR 8 59463371 59463371 single base substitution C G upstream_gene_variant BRCA-FR 8 59473002 59473002 single base substitution C T 5_prime_UTR_variant BRCA-FR 8 59473002 59473002 single base substitution C T intron_variant BRCA-FR 8 59473002 59473002 single base substitution C T upstream_gene_variant BRCA-FR 8 59487245 59487245 single base substitution C A downstream_gene_variant BRCA-FR 8 59487245 59487245 single base substitution C A intron_variant BRCA-FR 8 59487245 59487245 single base substitution C A upstream_gene_variant BRCA-KR 8 59499169 59499169 single base substitution T C downstream_gene_variant BRCA-UK 8 59472602 59472602 single base substitution G T intron_variant BRCA-UK 8 59472602 59472602 single base substitution G T upstream_gene_variant BRCA-UK 8 59473946 59473946 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-UK 8 59473946 59473946 single base substitution C G intron_variant BRCA-UK 8 59473946 59473946 single base substitution C G upstream_gene_variant BRCA-UK 8 59490801 59490801 single base substitution C A downstream_gene_variant BRCA-UK 8 59490801 59490801 single base substitution C A exon_variant BRCA-UK 8 59490801 59490801 single base substitution C A intron_variant BRCA-US 8 59492212 59492212 single base substitution G A downstream_gene_variant BRCA-US 8 59492212 59492212 single base substitution G A exon_variant BRCA-US 8 59492212 59492212 single base substitution G A synonymous_variant K144K 432G>A BRCA-US 8 59492212 59492212 single base substitution G A synonymous_variant K149K 447G>A BRCA-US 8 59492212 59492212 single base substitution G A synonymous_variant K197K 591G>A BRCA-US 8 59492212 59492212 single base substitution G A synonymous_variant K202K 606G>A BRCA-US 8 59492212 59492212 single base substitution G A synonymous_variant K203K 609G>A BRCA-US 8 59492212 59492212 single base substitution G A synonymous_variant K223K 669G>A BRCA-US 8 59498560 59498560 single base substitution C G downstream_gene_variant BRCA-US 8 59500239 59500239 single base substitution C G downstream_gene_variant BTCA-JP 8 59488587 59488587 deletion of <=200bp A - downstream_gene_variant BTCA-JP 8 59488587 59488587 deletion of <=200bp A - exon_variant BTCA-JP 8 59488587 59488587 deletion of <=200bp A - frameshift_variant G117 BTCA-JP 8 59488587 59488587 deletion of <=200bp A - frameshift_variant G122 BTCA-JP 8 59488587 59488587 deletion of <=200bp A - frameshift_variant G123 BTCA-JP 8 59488587 59488587 deletion of <=200bp A - frameshift_variant G143 BTCA-JP 8 59488587 59488587 deletion of <=200bp A - intron_variant BTCA-JP 8 59488587 59488587 deletion of <=200bp A - upstream_gene_variant BTCA-JP 8 59490878 59490878 single base substitution A G downstream_gene_variant BTCA-JP 8 59490878 59490878 single base substitution A G exon_variant BTCA-JP 8 59490878 59490878 single base substitution A G intron_variant BTCA-JP 8 59499123 59499123 single base substitution G A downstream_gene_variant CESC-US 8 59484844 59484844 single base substitution G T exon_variant CESC-US 8 59484844 59484844 single base substitution G T missense_variant A65S 193G>T CESC-US 8 59484844 59484844 single base substitution G T missense_variant A71S 211G>T CESC-US 8 59484844 59484844 single base substitution G T missense_variant A92S 274G>T CESC-US 8 59490703 59490703 single base substitution G C downstream_gene_variant CESC-US 8 59490703 59490703 single base substitution G C exon_variant CESC-US 8 59490703 59490703 single base substitution G C missense_variant D113H 337G>C CESC-US 8 59490703 59490703 single base substitution G C missense_variant D118H 352G>C CESC-US 8 59490703 59490703 single base substitution G C missense_variant D166H 496G>C CESC-US 8 59490703 59490703 single base substitution G C missense_variant D171H 511G>C CESC-US 8 59490703 59490703 single base substitution G C missense_variant D172H 514G>C CESC-US 8 59490703 59490703 single base substitution G C missense_variant D192H 574G>C CESC-US 8 59493158 59493158 single base substitution T C downstream_gene_variant CESC-US 8 59493158 59493158 single base substitution T C missense_variant I219T 656T>C CESC-US 8 59493158 59493158 single base substitution T C missense_variant I224T 671T>C CESC-US 8 59493158 59493158 single base substitution T C missense_variant I272T 815T>C CESC-US 8 59493158 59493158 single base substitution T C missense_variant I277T 830T>C CESC-US 8 59493158 59493158 single base substitution T C missense_variant I278T 833T>C CESC-US 8 59493158 59493158 single base substitution T C missense_variant I298T 893T>C CLLE-ES 8 59469072 59469072 single base substitution A G intron_variant CLLE-ES 8 59474119 59474119 single base substitution T C 5_prime_UTR_variant CLLE-ES 8 59474119 59474119 single base substitution T C intron_variant CLLE-ES 8 59474119 59474119 single base substitution T C upstream_gene_variant COAD-US 8 59498553 59498553 single base substitution C T downstream_gene_variant COAD-US 8 59500221 59500221 deletion of <=200bp T - downstream_gene_variant COCA-CN 8 59461409 59461409 single base substitution C A upstream_gene_variant COCA-CN 8 59462283 59462283 single base substitution C T upstream_gene_variant COCA-CN 8 59465893 59465893 single base substitution C G intron_variant COCA-CN 8 59477578 59477578 insertion of <=200bp - T 5_prime_UTR_variant COCA-CN 8 59477578 59477578 insertion of <=200bp - T frameshift_variant K17*? COCA-CN 8 59477578 59477578 insertion of <=200bp - T intron_variant COCA-CN 8 59477578 59477578 insertion of <=200bp - T splice_region_variant COCA-CN 8 59478102 59478102 single base substitution G A intron_variant COCA-CN 8 59488289 59488289 single base substitution A G downstream_gene_variant COCA-CN 8 59488289 59488289 single base substitution A G intron_variant COCA-CN 8 59488289 59488289 single base substitution A G upstream_gene_variant COCA-CN 8 59488440 59488440 single base substitution T G downstream_gene_variant COCA-CN 8 59488440 59488440 single base substitution T G intron_variant COCA-CN 8 59488440 59488440 single base substitution T G upstream_gene_variant COCA-CN 8 59488532 59488532 single base substitution G C downstream_gene_variant COCA-CN 8 59488532 59488532 single base substitution G C exon_variant COCA-CN 8 59488532 59488532 single base substitution G C intron_variant COCA-CN 8 59488532 59488532 single base substitution G C missense_variant R104T 311G>C COCA-CN 8 59488532 59488532 single base substitution G C missense_variant R105T 314G>C COCA-CN 8 59488532 59488532 single base substitution G C missense_variant R125T 374G>C COCA-CN 8 59488532 59488532 single base substitution G C missense_variant R99T 296G>C COCA-CN 8 59488532 59488532 single base substitution G C upstream_gene_variant COCA-CN 8 59493171 59493171 single base substitution A T downstream_gene_variant COCA-CN 8 59493171 59493171 single base substitution A T splice_region_variant COCA-CN 8 59493236 59493236 single base substitution C A downstream_gene_variant COCA-CN 8 59493236 59493236 single base substitution C A intron_variant COCA-CN 8 59496934 59496934 single base substitution C T downstream_gene_variant ESAD-UK 8 59461547 59461547 single base substitution G A upstream_gene_variant ESAD-UK 8 59461783 59461783 insertion of <=200bp - AC upstream_gene_variant ESAD-UK 8 59462141 59462141 single base substitution T A upstream_gene_variant ESAD-UK 8 59463053 59463053 single base substitution G T upstream_gene_variant ESAD-UK 8 59463217 59463217 single base substitution A C upstream_gene_variant ESAD-UK 8 59465406 59465406 single base substitution G T upstream_gene_variant ESAD-UK 8 59465463 59465463 single base substitution G T upstream_gene_variant ESAD-UK 8 59465849 59465849 single base substitution T G 5_prime_UTR_variant ESAD-UK 8 59465849 59465849 single base substitution T G exon_variant ESAD-UK 8 59466047 59466047 insertion of <=200bp - G intron_variant ESAD-UK 8 59469825 59469825 single base substitution T C intron_variant ESAD-UK 8 59472372 59472372 single base substitution T C intron_variant ESAD-UK 8 59473904 59473904 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 8 59473904 59473904 single base substitution A T intron_variant ESAD-UK 8 59473904 59473904 single base substitution A T upstream_gene_variant ESAD-UK 8 59475416 59475416 single base substitution T C intron_variant ESAD-UK 8 59475416 59475416 single base substitution T C upstream_gene_variant ESAD-UK 8 59478543 59478543 single base substitution A T intron_variant ESAD-UK 8 59478543 59478543 single base substitution A T upstream_gene_variant ESAD-UK 8 59478897 59478897 deletion of <=200bp T - intron_variant ESAD-UK 8 59478897 59478897 deletion of <=200bp T - upstream_gene_variant ESAD-UK 8 59479254 59479254 single base substitution A T intron_variant ESAD-UK 8 59479254 59479254 single base substitution A T upstream_gene_variant ESAD-UK 8 59481614 59481614 single base substitution T C intron_variant ESAD-UK 8 59481614 59481614 single base substitution T C upstream_gene_variant ESAD-UK 8 59481615 59481615 deletion of <=200bp C - intron_variant ESAD-UK 8 59481615 59481615 deletion of <=200bp C - upstream_gene_variant ESAD-UK 8 59483637 59483637 single base substitution A T intron_variant ESAD-UK 8 59484899 59484899 single base substitution T A downstream_gene_variant ESAD-UK 8 59484899 59484899 single base substitution T A intron_variant ESAD-UK 8 59485802 59485804 deletion of <=200bp TTA - downstream_gene_variant ESAD-UK 8 59485802 59485804 deletion of <=200bp TTA - intron_variant ESAD-UK 8 59485802 59485804 deletion of <=200bp TTA - upstream_gene_variant ESAD-UK 8 59486961 59486961 single base substitution C G downstream_gene_variant ESAD-UK 8 59486961 59486961 single base substitution C G intron_variant ESAD-UK 8 59486961 59486961 single base substitution C G upstream_gene_variant ESAD-UK 8 59487118 59487118 single base substitution G A downstream_gene_variant ESAD-UK 8 59487118 59487118 single base substitution G A intron_variant ESAD-UK 8 59487118 59487118 single base substitution G A upstream_gene_variant ESAD-UK 8 59487176 59487176 single base substitution T A downstream_gene_variant ESAD-UK 8 59487176 59487176 single base substitution T A intron_variant ESAD-UK 8 59487176 59487176 single base substitution T A upstream_gene_variant ESAD-UK 8 59488868 59488868 single base substitution C A downstream_gene_variant ESAD-UK 8 59488868 59488868 single base substitution C A exon_variant ESAD-UK 8 59488868 59488868 single base substitution C A intron_variant ESAD-UK 8 59488868 59488868 single base substitution C A upstream_gene_variant ESAD-UK 8 59491380 59491380 single base substitution C A downstream_gene_variant ESAD-UK 8 59491380 59491380 single base substitution C A intron_variant ESAD-UK 8 59491548 59491550 deletion of <=200bp ATG - downstream_gene_variant ESAD-UK 8 59491548 59491550 deletion of <=200bp ATG - intron_variant ESAD-UK 8 59492929 59492929 single base substitution G C downstream_gene_variant ESAD-UK 8 59492929 59492929 single base substitution G C intron_variant ESAD-UK 8 59493187 59493187 single base substitution A G downstream_gene_variant ESAD-UK 8 59493187 59493187 single base substitution A G intron_variant ESAD-UK 8 59493551 59493551 single base substitution G A downstream_gene_variant ESAD-UK 8 59493551 59493551 single base substitution G A intron_variant ESAD-UK 8 59497175 59497175 single base substitution A C downstream_gene_variant ESAD-UK 8 59497205 59497205 deletion of <=200bp T - downstream_gene_variant ESAD-UK 8 59499547 59499547 single base substitution A C downstream_gene_variant GBM-US 8 59492353 59492353 single base substitution G A downstream_gene_variant GBM-US 8 59492353 59492353 single base substitution G A exon_variant GBM-US 8 59492353 59492353 single base substitution G A splice_region_variant KIRC-US 8 59490730 59490730 single base substitution G A downstream_gene_variant KIRC-US 8 59490730 59490730 single base substitution G A exon_variant KIRC-US 8 59490730 59490730 single base substitution G A missense_variant A122T 364G>A KIRC-US 8 59490730 59490730 single base substitution G A missense_variant A127T 379G>A KIRC-US 8 59490730 59490730 single base substitution G A missense_variant A175T 523G>A KIRC-US 8 59490730 59490730 single base substitution G A missense_variant A180T 538G>A KIRC-US 8 59490730 59490730 single base substitution G A missense_variant A181T 541G>A KIRC-US 8 59490730 59490730 single base substitution G A missense_variant A201T 601G>A KIRP-US 8 59498243 59498243 single base substitution G T downstream_gene_variant LICA-FR 8 59493817 59493818 deletion of <=200bp TT - downstream_gene_variant LICA-FR 8 59493817 59493818 deletion of <=200bp TT - intron_variant LICA-FR 8 59497224 59497224 single base substitution G A downstream_gene_variant LIHC-US 8 59498516 59498516 single base substitution A G downstream_gene_variant LINC-JP 8 59483483 59483483 single base substitution C A exon_variant LINC-JP 8 59483483 59483483 single base substitution C A missense_variant A24E 71C>A LINC-JP 8 59483483 59483483 single base substitution C A missense_variant A30E 89C>A LINC-JP 8 59483483 59483483 single base substitution C A missense_variant A51E 152C>A LINC-JP 8 59494398 59494398 single base substitution T C 3_prime_UTR_variant LINC-JP 8 59494398 59494398 single base substitution T C downstream_gene_variant LINC-JP 8 59498256 59498256 single base substitution C T downstream_gene_variant LINC-JP 8 59499075 59499075 single base substitution G C downstream_gene_variant LINC-JP 8 59499206 59499206 single base substitution T C downstream_gene_variant LIRI-JP 8 59465244 59465244 single base substitution A T upstream_gene_variant LIRI-JP 8 59467790 59467790 single base substitution A G intron_variant LIRI-JP 8 59467959 59467959 single base substitution T G intron_variant LIRI-JP 8 59468139 59468139 single base substitution T C intron_variant LIRI-JP 8 59470171 59470171 single base substitution A C intron_variant LIRI-JP 8 59470236 59470236 single base substitution A T intron_variant LIRI-JP 8 59470247 59470247 single base substitution A C intron_variant LIRI-JP 8 59470802 59470802 single base substitution A G intron_variant LIRI-JP 8 59477415 59477415 single base substitution C T intron_variant LIRI-JP 8 59477415 59477415 single base substitution C T upstream_gene_variant LIRI-JP 8 59481777 59481777 single base substitution A G intron_variant LIRI-JP 8 59481777 59481777 single base substitution A G upstream_gene_variant LIRI-JP 8 59484463 59484463 single base substitution A T intron_variant LIRI-JP 8 59484482 59484482 single base substitution A T intron_variant LIRI-JP 8 59486694 59486694 single base substitution T G downstream_gene_variant LIRI-JP 8 59486694 59486694 single base substitution T G intron_variant LIRI-JP 8 59486694 59486694 single base substitution T G upstream_gene_variant LIRI-JP 8 59488666 59488666 single base substitution T G downstream_gene_variant LIRI-JP 8 59488666 59488666 single base substitution T G exon_variant LIRI-JP 8 59488666 59488666 single base substitution T G intron_variant LIRI-JP 8 59488666 59488666 single base substitution T G upstream_gene_variant LIRI-JP 8 59489008 59489008 single base substitution T C downstream_gene_variant LIRI-JP 8 59489008 59489008 single base substitution T C intron_variant LIRI-JP 8 59489008 59489008 single base substitution T C upstream_gene_variant LIRI-JP 8 59489101 59489101 single base substitution A G downstream_gene_variant LIRI-JP 8 59489101 59489101 single base substitution A G intron_variant LIRI-JP 8 59489101 59489101 single base substitution A G upstream_gene_variant LIRI-JP 8 59491881 59491881 single base substitution A G downstream_gene_variant LIRI-JP 8 59491881 59491881 single base substitution A G intron_variant LIRI-JP 8 59492642 59492642 single base substitution A C downstream_gene_variant LIRI-JP 8 59492642 59492642 single base substitution A C intron_variant LIRI-JP 8 59495171 59495171 single base substitution T G 3_prime_UTR_variant LIRI-JP 8 59495171 59495171 single base substitution T G downstream_gene_variant LIRI-JP 8 59495954 59495954 single base substitution T C downstream_gene_variant LIRI-JP 8 59496255 59496255 single base substitution A C downstream_gene_variant LIRI-JP 8 59496491 59496491 single base substitution G C downstream_gene_variant LIRI-JP 8 59497250 59497250 single base substitution A T downstream_gene_variant LIRI-JP 8 59498512 59498512 single base substitution T C downstream_gene_variant LIRI-JP 8 59500195 59500195 single base substitution C A downstream_gene_variant LUSC-KR 8 59463775 59463775 single base substitution T A upstream_gene_variant LUSC-KR 8 59468777 59468777 single base substitution G C intron_variant LUSC-KR 8 59476058 59476058 single base substitution G T intron_variant LUSC-KR 8 59476058 59476058 single base substitution G T upstream_gene_variant LUSC-KR 8 59476792 59476792 single base substitution A G intron_variant LUSC-KR 8 59476792 59476792 single base substitution A G upstream_gene_variant LUSC-KR 8 59479530 59479530 single base substitution C T intron_variant LUSC-KR 8 59479530 59479530 single base substitution C T upstream_gene_variant LUSC-KR 8 59485384 59485384 single base substitution G T downstream_gene_variant LUSC-KR 8 59485384 59485384 single base substitution G T intron_variant LUSC-KR 8 59495931 59495931 single base substitution T G downstream_gene_variant LUSC-KR 8 59496416 59496416 single base substitution C T downstream_gene_variant LUSC-KR 8 59496490 59496490 single base substitution A G downstream_gene_variant LUSC-KR 8 59497501 59497501 single base substitution T A downstream_gene_variant LUSC-KR 8 59499237 59499237 single base substitution G A downstream_gene_variant MALY-DE 8 59461789 59461790 deletion of <=200bp AC - upstream_gene_variant MALY-DE 8 59465574 59465574 single base substitution T C exon_variant MALY-DE 8 59465574 59465574 single base substitution T C upstream_gene_variant MALY-DE 8 59485171 59485171 single base substitution T C downstream_gene_variant MALY-DE 8 59485171 59485171 single base substitution T C intron_variant MALY-DE 8 59494392 59494392 single base substitution C T 3_prime_UTR_variant MALY-DE 8 59494392 59494392 single base substitution C T downstream_gene_variant MELA-AU 8 59460497 59460497 single base substitution G A upstream_gene_variant MELA-AU 8 59460665 59460665 single base substitution G A upstream_gene_variant MELA-AU 8 59460713 59460713 single base substitution G A upstream_gene_variant MELA-AU 8 59461640 59461640 single base substitution A G upstream_gene_variant MELA-AU 8 59462555 59462555 single base substitution C T upstream_gene_variant MELA-AU 8 59462701 59462701 single base substitution C T upstream_gene_variant MELA-AU 8 59463130 59463130 single base substitution C T upstream_gene_variant MELA-AU 8 59463647 59463647 single base substitution T A upstream_gene_variant MELA-AU 8 59464197 59464197 single base substitution G A upstream_gene_variant MELA-AU 8 59466031 59466031 single base substitution C T intron_variant MELA-AU 8 59466900 59466900 single base substitution T C intron_variant MELA-AU 8 59467266 59467267 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 59467540 59467540 single base substitution G A intron_variant MELA-AU 8 59467928 59467928 single base substitution C T intron_variant MELA-AU 8 59467939 59467940 multiple base substitution (>=2bp and <=200bp) GC CT intron_variant MELA-AU 8 59468125 59468126 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 59468403 59468403 single base substitution A G intron_variant MELA-AU 8 59468800 59468801 deletion of <=200bp TA - intron_variant MELA-AU 8 59469104 59469104 single base substitution G A intron_variant MELA-AU 8 59470393 59470393 single base substitution A G intron_variant MELA-AU 8 59471070 59471070 single base substitution G A intron_variant MELA-AU 8 59471111 59471112 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 59472130 59472130 single base substitution C T intron_variant MELA-AU 8 59472283 59472284 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 59472679 59472679 single base substitution C T intron_variant MELA-AU 8 59472679 59472679 single base substitution C T upstream_gene_variant MELA-AU 8 59473337 59473337 single base substitution A G 5_prime_UTR_variant MELA-AU 8 59473337 59473337 single base substitution A G intron_variant MELA-AU 8 59473337 59473337 single base substitution A G upstream_gene_variant MELA-AU 8 59473464 59473464 single base substitution C A 5_prime_UTR_variant MELA-AU 8 59473464 59473464 single base substitution C A intron_variant MELA-AU 8 59473464 59473464 single base substitution C A upstream_gene_variant MELA-AU 8 59473896 59473896 single base substitution C T 5_prime_UTR_variant MELA-AU 8 59473896 59473896 single base substitution C T intron_variant MELA-AU 8 59473896 59473896 single base substitution C T upstream_gene_variant MELA-AU 8 59475450 59475450 single base substitution A G intron_variant MELA-AU 8 59475450 59475450 single base substitution A G upstream_gene_variant MELA-AU 8 59475662 59475662 insertion of <=200bp - A intron_variant MELA-AU 8 59475662 59475662 insertion of <=200bp - A upstream_gene_variant MELA-AU 8 59476502 59476502 single base substitution C T intron_variant MELA-AU 8 59476502 59476502 single base substitution C T upstream_gene_variant MELA-AU 8 59476577 59476577 single base substitution C G intron_variant MELA-AU 8 59476577 59476577 single base substitution C G upstream_gene_variant MELA-AU 8 59477597 59477597 single base substitution C T exon_variant MELA-AU 8 59477597 59477597 single base substitution C T intron_variant MELA-AU 8 59477597 59477597 single base substitution C T missense_variant S23F 68C>T MELA-AU 8 59477597 59477597 single base substitution C T missense_variant S2F 5C>T MELA-AU 8 59477867 59477867 single base substitution C T intron_variant MELA-AU 8 59478918 59478918 single base substitution G A intron_variant MELA-AU 8 59478918 59478918 single base substitution G A upstream_gene_variant MELA-AU 8 59479685 59479685 single base substitution A T intron_variant MELA-AU 8 59479685 59479685 single base substitution A T upstream_gene_variant MELA-AU 8 59480156 59480156 single base substitution C T intron_variant MELA-AU 8 59480156 59480156 single base substitution C T upstream_gene_variant MELA-AU 8 59480199 59480199 single base substitution G A intron_variant MELA-AU 8 59480199 59480199 single base substitution G A upstream_gene_variant MELA-AU 8 59480815 59480815 single base substitution C T intron_variant MELA-AU 8 59480815 59480815 single base substitution C T upstream_gene_variant MELA-AU 8 59480889 59480889 single base substitution A G intron_variant MELA-AU 8 59480889 59480889 single base substitution A G upstream_gene_variant MELA-AU 8 59482519 59482519 single base substitution C T intron_variant MELA-AU 8 59482519 59482519 single base substitution C T upstream_gene_variant MELA-AU 8 59485586 59485586 single base substitution C T downstream_gene_variant MELA-AU 8 59485586 59485586 single base substitution C T intron_variant MELA-AU 8 59485586 59485586 single base substitution C T upstream_gene_variant MELA-AU 8 59485847 59485847 single base substitution C T downstream_gene_variant MELA-AU 8 59485847 59485847 single base substitution C T intron_variant MELA-AU 8 59485847 59485847 single base substitution C T upstream_gene_variant MELA-AU 8 59488179 59488179 single base substitution G A downstream_gene_variant MELA-AU 8 59488179 59488179 single base substitution G A intron_variant MELA-AU 8 59488179 59488179 single base substitution G A upstream_gene_variant MELA-AU 8 59488334 59488334 single base substitution C T downstream_gene_variant MELA-AU 8 59488334 59488334 single base substitution C T intron_variant MELA-AU 8 59488334 59488334 single base substitution C T upstream_gene_variant MELA-AU 8 59489729 59489729 single base substitution C T downstream_gene_variant MELA-AU 8 59489729 59489729 single base substitution C T intron_variant MELA-AU 8 59489729 59489729 single base substitution C T upstream_gene_variant MELA-AU 8 59490061 59490061 single base substitution A T downstream_gene_variant MELA-AU 8 59490061 59490061 single base substitution A T intron_variant MELA-AU 8 59490061 59490061 single base substitution A T upstream_gene_variant MELA-AU 8 59490559 59490559 single base substitution G A downstream_gene_variant MELA-AU 8 59490559 59490559 single base substitution G A exon_variant MELA-AU 8 59490559 59490559 single base substitution G A intron_variant MELA-AU 8 59490698 59490698 single base substitution G A downstream_gene_variant MELA-AU 8 59490698 59490698 single base substitution G A exon_variant MELA-AU 8 59490698 59490698 single base substitution G A missense_variant S111N 332G>A MELA-AU 8 59490698 59490698 single base substitution G A missense_variant S116N 347G>A MELA-AU 8 59490698 59490698 single base substitution G A missense_variant S164N 491G>A MELA-AU 8 59490698 59490698 single base substitution G A missense_variant S169N 506G>A MELA-AU 8 59490698 59490698 single base substitution G A missense_variant S170N 509G>A MELA-AU 8 59490698 59490698 single base substitution G A missense_variant S190N 569G>A MELA-AU 8 59490871 59490871 single base substitution A G downstream_gene_variant MELA-AU 8 59490871 59490871 single base substitution A G exon_variant MELA-AU 8 59490871 59490871 single base substitution A G intron_variant MELA-AU 8 59491016 59491016 single base substitution T G downstream_gene_variant MELA-AU 8 59491016 59491016 single base substitution T G intron_variant MELA-AU 8 59491029 59491029 single base substitution G A downstream_gene_variant MELA-AU 8 59491029 59491029 single base substitution G A intron_variant MELA-AU 8 59491671 59491671 single base substitution G A downstream_gene_variant MELA-AU 8 59491671 59491671 single base substitution G A intron_variant MELA-AU 8 59491953 59491953 single base substitution A G downstream_gene_variant MELA-AU 8 59491953 59491953 single base substitution A G intron_variant MELA-AU 8 59491955 59491955 single base substitution G A downstream_gene_variant MELA-AU 8 59491955 59491955 single base substitution G A intron_variant MELA-AU 8 59492262 59492262 single base substitution C A downstream_gene_variant MELA-AU 8 59492262 59492262 single base substitution C A exon_variant MELA-AU 8 59492262 59492262 single base substitution C A missense_variant S161Y 482C>A MELA-AU 8 59492262 59492262 single base substitution C A missense_variant S166Y 497C>A MELA-AU 8 59492262 59492262 single base substitution C A missense_variant S214Y 641C>A MELA-AU 8 59492262 59492262 single base substitution C A missense_variant S219Y 656C>A MELA-AU 8 59492262 59492262 single base substitution C A missense_variant S220Y 659C>A MELA-AU 8 59492262 59492262 single base substitution C A missense_variant S240Y 719C>A MELA-AU 8 59493142 59493142 single base substitution T G downstream_gene_variant MELA-AU 8 59493142 59493142 single base substitution T G missense_variant F214V 640T>G MELA-AU 8 59493142 59493142 single base substitution T G missense_variant F219V 655T>G MELA-AU 8 59493142 59493142 single base substitution T G missense_variant F267V 799T>G MELA-AU 8 59493142 59493142 single base substitution T G missense_variant F272V 814T>G MELA-AU 8 59493142 59493142 single base substitution T G missense_variant F273V 817T>G MELA-AU 8 59493142 59493142 single base substitution T G missense_variant F293V 877T>G MELA-AU 8 59493316 59493316 single base substitution G A downstream_gene_variant MELA-AU 8 59493316 59493316 single base substitution G A intron_variant MELA-AU 8 59493418 59493418 single base substitution G A downstream_gene_variant MELA-AU 8 59493418 59493418 single base substitution G A intron_variant MELA-AU 8 59493502 59493502 single base substitution T C downstream_gene_variant MELA-AU 8 59493502 59493502 single base substitution T C intron_variant MELA-AU 8 59493916 59493916 single base substitution A G downstream_gene_variant MELA-AU 8 59493916 59493916 single base substitution A G intron_variant MELA-AU 8 59494025 59494025 single base substitution T C downstream_gene_variant MELA-AU 8 59494025 59494025 single base substitution T C intron_variant MELA-AU 8 59494177 59494177 single base substitution G A downstream_gene_variant MELA-AU 8 59494177 59494177 single base substitution G A intron_variant MELA-AU 8 59494187 59494187 single base substitution G A downstream_gene_variant MELA-AU 8 59494187 59494187 single base substitution G A intron_variant MELA-AU 8 59494249 59494249 single base substitution G A downstream_gene_variant MELA-AU 8 59494249 59494249 single base substitution G A missense_variant A224T 670G>A MELA-AU 8 59494249 59494249 single base substitution G A missense_variant A229T 685G>A MELA-AU 8 59494249 59494249 single base substitution G A missense_variant A277T 829G>A MELA-AU 8 59494249 59494249 single base substitution G A missense_variant A282T 844G>A MELA-AU 8 59494249 59494249 single base substitution G A missense_variant A283T 847G>A MELA-AU 8 59494249 59494249 single base substitution G A missense_variant A303T 907G>A MELA-AU 8 59494291 59494291 single base substitution G A downstream_gene_variant MELA-AU 8 59494291 59494291 single base substitution G A missense_variant E238K 712G>A MELA-AU 8 59494291 59494291 single base substitution G A missense_variant E243K 727G>A MELA-AU 8 59494291 59494291 single base substitution G A missense_variant E291K 871G>A MELA-AU 8 59494291 59494291 single base substitution G A missense_variant E296K 886G>A MELA-AU 8 59494291 59494291 single base substitution G A missense_variant E297K 889G>A MELA-AU 8 59494291 59494291 single base substitution G A missense_variant E317K 949G>A MELA-AU 8 59494369 59494369 single base substitution A T 3_prime_UTR_variant MELA-AU 8 59494369 59494369 single base substitution A T downstream_gene_variant MELA-AU 8 59494377 59494377 single base substitution C T 3_prime_UTR_variant MELA-AU 8 59494377 59494377 single base substitution C T downstream_gene_variant MELA-AU 8 59494592 59494592 single base substitution A G 3_prime_UTR_variant MELA-AU 8 59494592 59494592 single base substitution A G downstream_gene_variant MELA-AU 8 59495758 59495758 single base substitution C T downstream_gene_variant MELA-AU 8 59496379 59496379 single base substitution C T downstream_gene_variant MELA-AU 8 59497927 59497932 deletion of <=200bp TTACCT - downstream_gene_variant MELA-AU 8 59497980 59497980 single base substitution A G downstream_gene_variant ORCA-IN 8 59461644 59461644 single base substitution G A upstream_gene_variant OV-AU 8 59461543 59461543 single base substitution A G upstream_gene_variant OV-AU 8 59467200 59467200 single base substitution A C intron_variant OV-AU 8 59468998 59468998 single base substitution G A intron_variant OV-AU 8 59475061 59475061 single base substitution A T intron_variant OV-AU 8 59475061 59475061 single base substitution A T upstream_gene_variant OV-AU 8 59477901 59477901 single base substitution A C intron_variant OV-AU 8 59486229 59486229 single base substitution C A downstream_gene_variant OV-AU 8 59486229 59486229 single base substitution C A intron_variant OV-AU 8 59486229 59486229 single base substitution C A upstream_gene_variant OV-AU 8 59492037 59492037 single base substitution G A downstream_gene_variant OV-AU 8 59492037 59492037 single base substitution G A intron_variant OV-AU 8 59493347 59493347 single base substitution C G downstream_gene_variant OV-AU 8 59493347 59493347 single base substitution C G intron_variant PACA-AU 8 59461790 59461790 single base substitution C T upstream_gene_variant PACA-AU 8 59464619 59464619 single base substitution A G upstream_gene_variant PACA-AU 8 59470728 59470728 single base substitution G T intron_variant PACA-AU 8 59472415 59472415 single base substitution C T intron_variant PACA-AU 8 59480444 59480444 single base substitution T C intron_variant PACA-AU 8 59480444 59480444 single base substitution T C upstream_gene_variant PACA-AU 8 59481743 59481743 single base substitution C G intron_variant PACA-AU 8 59481743 59481743 single base substitution C G upstream_gene_variant PACA-AU 8 59483974 59483974 single base substitution C G intron_variant PACA-AU 8 59498556 59498556 single base substitution C T downstream_gene_variant PACA-CA 8 59460499 59460499 single base substitution G A upstream_gene_variant PACA-CA 8 59461782 59461782 insertion of <=200bp - AC upstream_gene_variant PACA-CA 8 59463803 59463803 single base substitution T A upstream_gene_variant PACA-CA 8 59467790 59467804 deletion of <=200bp ACTTCAGGTTTTGAG - intron_variant PACA-CA 8 59474920 59474920 single base substitution T A intron_variant PACA-CA 8 59474920 59474920 single base substitution T A upstream_gene_variant PACA-CA 8 59476094 59476094 single base substitution T C intron_variant PACA-CA 8 59476094 59476094 single base substitution T C upstream_gene_variant PACA-CA 8 59476398 59476398 single base substitution C T intron_variant PACA-CA 8 59476398 59476398 single base substitution C T upstream_gene_variant PACA-CA 8 59477633 59477633 single base substitution A G exon_variant PACA-CA 8 59477633 59477633 single base substitution A G intron_variant PACA-CA 8 59477633 59477633 single base substitution A G missense_variant K14R 41A>G PACA-CA 8 59477633 59477633 single base substitution A G missense_variant K35R 104A>G PACA-CA 8 59477633 59477633 single base substitution A G splice_region_variant PACA-CA 8 59479441 59479441 single base substitution C T intron_variant PACA-CA 8 59479441 59479441 single base substitution C T upstream_gene_variant PACA-CA 8 59480233 59480233 single base substitution A G intron_variant PACA-CA 8 59480233 59480233 single base substitution A G upstream_gene_variant PACA-CA 8 59481257 59481257 single base substitution T C intron_variant PACA-CA 8 59481257 59481257 single base substitution T C upstream_gene_variant PACA-CA 8 59490338 59490338 single base substitution G T downstream_gene_variant PACA-CA 8 59490338 59490338 single base substitution G T intron_variant PACA-CA 8 59490338 59490338 single base substitution G T upstream_gene_variant PACA-CA 8 59496224 59496224 single base substitution C T downstream_gene_variant PACA-CA 8 59496453 59496453 single base substitution T C downstream_gene_variant PACA-CA 8 59499486 59499486 single base substitution G A downstream_gene_variant PAEN-IT 8 59462176 59462176 single base substitution G C upstream_gene_variant PAEN-IT 8 59487371 59487371 single base substitution C G downstream_gene_variant PAEN-IT 8 59487371 59487371 single base substitution C G intron_variant PAEN-IT 8 59487371 59487371 single base substitution C G upstream_gene_variant PBCA-DE 8 59470844 59470844 insertion of <=200bp - T intron_variant PBCA-DE 8 59472340 59472340 single base substitution G A intron_variant PBCA-DE 8 59476110 59476110 single base substitution T G intron_variant PBCA-DE 8 59476110 59476110 single base substitution T G upstream_gene_variant PBCA-DE 8 59499237 59499237 single base substitution G A downstream_gene_variant PRAD-CA 8 59473591 59473591 single base substitution G A 5_prime_UTR_variant PRAD-CA 8 59473591 59473591 single base substitution G A intron_variant PRAD-CA 8 59473591 59473591 single base substitution G A upstream_gene_variant PRAD-CA 8 59499792 59499792 single base substitution G T downstream_gene_variant PRAD-UK 8 59462576 59462576 single base substitution T C upstream_gene_variant PRAD-UK 8 59465874 59465874 single base substitution A G intron_variant PRAD-UK 8 59466757 59466757 single base substitution C T intron_variant PRAD-UK 8 59471945 59471945 single base substitution T G intron_variant PRAD-UK 8 59475291 59475291 single base substitution A T intron_variant PRAD-UK 8 59475291 59475291 single base substitution A T upstream_gene_variant PRAD-UK 8 59476376 59476376 single base substitution C A intron_variant PRAD-UK 8 59476376 59476376 single base substitution C A upstream_gene_variant PRAD-UK 8 59480361 59480361 single base substitution G A intron_variant PRAD-UK 8 59480361 59480361 single base substitution G A upstream_gene_variant PRAD-UK 8 59490248 59490248 single base substitution G A downstream_gene_variant PRAD-UK 8 59490248 59490248 single base substitution G A intron_variant PRAD-UK 8 59490248 59490248 single base substitution G A upstream_gene_variant PRAD-US 8 59490716 59490716 single base substitution A T downstream_gene_variant PRAD-US 8 59490716 59490716 single base substitution A T exon_variant PRAD-US 8 59490716 59490716 single base substitution A T missense_variant K117M 350A>T PRAD-US 8 59490716 59490716 single base substitution A T missense_variant K122M 365A>T PRAD-US 8 59490716 59490716 single base substitution A T missense_variant K170M 509A>T PRAD-US 8 59490716 59490716 single base substitution A T missense_variant K175M 524A>T PRAD-US 8 59490716 59490716 single base substitution A T missense_variant K176M 527A>T PRAD-US 8 59490716 59490716 single base substitution A T missense_variant K196M 587A>T READ-US 8 59483459 59483459 single base substitution T G exon_variant READ-US 8 59483459 59483459 single base substitution T G missense_variant F16C 47T>G READ-US 8 59483459 59483459 single base substitution T G missense_variant F22C 65T>G READ-US 8 59483459 59483459 single base substitution T G missense_variant F43C 128T>G READ-US 8 59496725 59496725 single base substitution A G downstream_gene_variant READ-US 8 59500199 59500199 single base substitution G A downstream_gene_variant RECA-EU 8 59480381 59480381 single base substitution A T intron_variant RECA-EU 8 59480381 59480381 single base substitution A T upstream_gene_variant RECA-EU 8 59487623 59487623 single base substitution C G downstream_gene_variant RECA-EU 8 59487623 59487623 single base substitution C G intron_variant RECA-EU 8 59487623 59487623 single base substitution C G upstream_gene_variant RECA-EU 8 59499831 59499831 single base substitution A G downstream_gene_variant SKCA-BR 8 59461784 59461784 insertion of <=200bp - TACAC upstream_gene_variant SKCA-BR 8 59461784 59461784 insertion of <=200bp - TAC upstream_gene_variant SKCA-BR 8 59461933 59461933 single base substitution G A upstream_gene_variant SKCA-BR 8 59464645 59464645 single base substitution T G upstream_gene_variant SKCA-BR 8 59474633 59474633 insertion of <=200bp - TA intron_variant SKCA-BR 8 59474633 59474633 insertion of <=200bp - TA upstream_gene_variant SKCA-BR 8 59480642 59480642 single base substitution C T intron_variant SKCA-BR 8 59480642 59480642 single base substitution C T upstream_gene_variant SKCA-BR 8 59485311 59485311 single base substitution C A downstream_gene_variant SKCA-BR 8 59485311 59485311 single base substitution C A intron_variant SKCA-BR 8 59488354 59488354 single base substitution A G downstream_gene_variant SKCA-BR 8 59488354 59488354 single base substitution A G intron_variant SKCA-BR 8 59488354 59488354 single base substitution A G upstream_gene_variant SKCA-BR 8 59488975 59488976 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 8 59488975 59488976 deletion of <=200bp CT - intron_variant SKCA-BR 8 59488975 59488976 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 8 59490949 59490949 single base substitution A T downstream_gene_variant SKCA-BR 8 59490949 59490949 single base substitution A T intron_variant SKCA-BR 8 59491799 59491800 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 8 59491799 59491800 deletion of <=200bp CT - intron_variant SKCA-BR 8 59493128 59493129 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 8 59493128 59493129 deletion of <=200bp CA - frameshift_variant T209 SKCA-BR 8 59493128 59493129 deletion of <=200bp CA - frameshift_variant T214 SKCA-BR 8 59493128 59493129 deletion of <=200bp CA - frameshift_variant T262 SKCA-BR 8 59493128 59493129 deletion of <=200bp CA - frameshift_variant T267 SKCA-BR 8 59493128 59493129 deletion of <=200bp CA - frameshift_variant T268 SKCA-BR 8 59493128 59493129 deletion of <=200bp CA - frameshift_variant T288 SKCA-BR 8 59494439 59494439 single base substitution A G 3_prime_UTR_variant SKCA-BR 8 59494439 59494439 single base substitution A G downstream_gene_variant SKCA-BR 8 59495119 59495119 single base substitution G A 3_prime_UTR_variant SKCA-BR 8 59495119 59495119 single base substitution G A downstream_gene_variant SKCA-BR 8 59498190 59498190 single base substitution G A downstream_gene_variant SKCM-US 8 59492257 59492257 single base substitution A G downstream_gene_variant SKCM-US 8 59492257 59492257 single base substitution A G exon_variant SKCM-US 8 59492257 59492257 single base substitution A G missense_variant I159M 477A>G SKCM-US 8 59492257 59492257 single base substitution A G missense_variant I164M 492A>G SKCM-US 8 59492257 59492257 single base substitution A G missense_variant I212M 636A>G SKCM-US 8 59492257 59492257 single base substitution A G missense_variant I217M 651A>G SKCM-US 8 59492257 59492257 single base substitution A G missense_variant I218M 654A>G SKCM-US 8 59492257 59492257 single base substitution A G missense_variant I238M 714A>G SKCM-US 8 59499059 59499059 single base substitution G A downstream_gene_variant STAD-US 8 59484832 59484832 single base substitution C T exon_variant STAD-US 8 59484832 59484832 single base substitution C T missense_variant R61C 181C>T STAD-US 8 59484832 59484832 single base substitution C T missense_variant R67C 199C>T STAD-US 8 59484832 59484832 single base substitution C T missense_variant R88C 262C>T STAD-US 8 59488523 59488523 single base substitution G A downstream_gene_variant STAD-US 8 59488523 59488523 single base substitution G A exon_variant STAD-US 8 59488523 59488523 single base substitution G A intron_variant STAD-US 8 59488523 59488523 single base substitution G A missense_variant G101E 302G>A STAD-US 8 59488523 59488523 single base substitution G A missense_variant G102E 305G>A STAD-US 8 59488523 59488523 single base substitution G A missense_variant G122E 365G>A STAD-US 8 59488523 59488523 single base substitution G A missense_variant G96E 287G>A STAD-US 8 59488523 59488523 single base substitution G A upstream_gene_variant STAD-US 8 59490615 59490615 single base substitution G A downstream_gene_variant STAD-US 8 59490615 59490615 single base substitution G A exon_variant STAD-US 8 59490615 59490615 single base substitution G A synonymous_variant Q136Q 408G>A STAD-US 8 59490615 59490615 single base substitution G A synonymous_variant Q141Q 423G>A STAD-US 8 59490615 59490615 single base substitution G A synonymous_variant Q142Q 426G>A STAD-US 8 59490615 59490615 single base substitution G A synonymous_variant Q162Q 486G>A STAD-US 8 59490615 59490615 single base substitution G A synonymous_variant Q83Q 249G>A STAD-US 8 59490615 59490615 single base substitution G A synonymous_variant Q88Q 264G>A STAD-US 8 59492251 59492251 deletion of <=200bp A - downstream_gene_variant STAD-US 8 59492251 59492251 deletion of <=200bp A - exon_variant STAD-US 8 59492251 59492251 deletion of <=200bp A - frameshift_variant G157 STAD-US 8 59492251 59492251 deletion of <=200bp A - frameshift_variant G162 STAD-US 8 59492251 59492251 deletion of <=200bp A - frameshift_variant G210 STAD-US 8 59492251 59492251 deletion of <=200bp A - frameshift_variant G215 STAD-US 8 59492251 59492251 deletion of <=200bp A - frameshift_variant G216 STAD-US 8 59492251 59492251 deletion of <=200bp A - frameshift_variant G236 STAD-US 8 59493089 59493089 single base substitution C T downstream_gene_variant STAD-US 8 59493089 59493089 single base substitution C T missense_variant A196V 587C>T STAD-US 8 59493089 59493089 single base substitution C T missense_variant A201V 602C>T STAD-US 8 59493089 59493089 single base substitution C T missense_variant A249V 746C>T STAD-US 8 59493089 59493089 single base substitution C T missense_variant A254V 761C>T STAD-US 8 59493089 59493089 single base substitution C T missense_variant A255V 764C>T STAD-US 8 59493089 59493089 single base substitution C T missense_variant A275V 824C>T STAD-US 8 59498296 59498296 single base substitution G A downstream_gene_variant THCA-SA 8 59496416 59496416 single base substitution C T downstream_gene_variant THCA-SA 8 59496490 59496490 single base substitution A G downstream_gene_variant UCEC-US 8 59490753 59490753 single base substitution G T downstream_gene_variant UCEC-US 8 59490753 59490753 single base substitution G T exon_variant UCEC-US 8 59490753 59490753 single base substitution G T missense_variant M129I 387G>T UCEC-US 8 59490753 59490753 single base substitution G T missense_variant M134I 402G>T UCEC-US 8 59490753 59490753 single base substitution G T missense_variant M182I 546G>T UCEC-US 8 59490753 59490753 single base substitution G T missense_variant M187I 561G>T UCEC-US 8 59490753 59490753 single base substitution G T missense_variant M188I 564G>T UCEC-US 8 59490753 59490753 single base substitution G T missense_variant M208I 624G>T UCEC-US 8 59492280 59492280 single base substitution C A downstream_gene_variant UCEC-US 8 59492280 59492280 single base substitution C A exon_variant UCEC-US 8 59492280 59492280 single base substitution C A missense_variant S167Y 500C>A UCEC-US 8 59492280 59492280 single base substitution C A missense_variant S172Y 515C>A UCEC-US 8 59492280 59492280 single base substitution C A missense_variant S220Y 659C>A UCEC-US 8 59492280 59492280 single base substitution C A missense_variant S225Y 674C>A UCEC-US 8 59492280 59492280 single base substitution C A missense_variant S226Y 677C>A UCEC-US 8 59492280 59492280 single base substitution C A missense_variant S246Y 737C>A UCEC-US 8 59496667 59496667 single base substitution A G downstream_gene_variant UCEC-US 8 59500239 59500239 single base substitution C A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CLL132 COSM1292717 c.117C>T p.I39I Substitution - coding silent 8:58570952-58570952 + 587376 COSM1225008 c.473T>C p.V158A Substitution - Missense 8:58578103-58578103 + PCSI_0328_Pa_P_526 COSM4965410 c.41A>G p.K14R Substitution - Missense 8:58565074-58565074 + TCGA-AA-A010-01 COSM284840 c.841C>T p.R281W Substitution - Missense 8:58580607-58580607 + TCGA-DS-A0VN-01 COSM461418 c.833T>C p.I278T Substitution - Missense 8:58580599-58580599 + SNUH_G76_S1 COSM3685398 c.787A>G p.T263A Substitution - Missense 8:58580553-58580553 + CSCC-18-T COSM4518209 c.560_561CC>TT p.T187I Substitution - Missense 8:58578190-58578191 + HCT15 COSM1673925 c.408A>G p.I136M Substitution - Missense 8:58578038-58578038 + BK0003 COSM4185473 c.392C>G p.S131* Substitution - Nonsense 8:58576051-58576051 + HCA7 COSM4631321 c.528G>T p.K176N Substitution - Missense 8:58578158-58578158 + TCGA-BR-8680-01 COSM3900811 c.305G>A p.G102E Substitution - Missense 8:58575964-58575964 + PD17994a COSM5790511 c.617C>G p.T206S Substitution - Missense 8:58579661-58579661 + TCGA-CD-8524-01 COSM3900810 c.199C>T p.R67C Substitution - Missense 8:58572273-58572273 + TCGA-J4-A67L-01 COSM4391905 c.527A>T p.K176M Substitution - Missense 8:58578157-58578157 + CSB1 COSM5026919 c.660C>G p.S220S Substitution - coding silent 8:58579704-58579704 + TCGA-AP-A051-01 COSM1100724 c.677C>A p.S226Y Substitution - Missense 8:58579721-58579721 + sysucc-1028T COSM5469065 c.314G>C p.R105T Substitution - Missense 8:58575973-58575973 + BL42 COSM3728291 c.559A>G p.T187A Substitution - Missense 8:58578189-58578189 + LAU165 COSM234095 c.579-6T>C p.? Unknown 8:58579617-58579617 + YUMOKI COSM5409734 c.802A>G p.T268A Substitution - Missense 8:58580568-58580568 + CSCC-30-T COSM4496604 c.478C>T p.Q160* Substitution - Nonsense 8:58578108-58578108 + CSCC-41-T COSM4571118 c.386T>C p.L129P Substitution - Missense 8:58576045-58576045 + CCRF-CEM COSM1673926 c.839A>C p.K280T Substitution - Missense 8:58580605-58580605 + HCT-15 COSM1673925 c.408A>G p.I136M Substitution - Missense 8:58578038-58578038 + Pat_31_B COSM5874849 c.177_178delGA p.S60fs*3 Deletion - Frameshift 8:58572251-58572252 + TCGA-CG-5721-01 COSM3900812 c.426G>A p.Q142Q Substitution - coding silent 8:58578056-58578056 + 66 COSM5743257 c.200G>A p.R67H Substitution - Missense 8:58572274-58572274 + 587376 COSM1225009 c.221C>T p.S74F Substitution - Missense 8:58572295-58572295 + SNUH_G15_S1 COSM3685398 c.787A>G p.T263A Substitution - Missense 8:58580553-58580553 + LUAD-NYU408 COSM374632 c.26A>C p.D9A Substitution - Missense 8:58565059-58565059 + HX11T COSM1624102 c.89C>A p.A30E Substitution - Missense 8:58570924-58570924 + T3724 COSM4724390 c.133C>A p.L45I Substitution - Missense 8:58572207-58572207 + TCGA-AZ-4313-01 COSM5139072 c.21C>T p.L7L Substitution - coding silent 8:58565054-58565054 + TCGA-BP-5176-01 COSM486554 c.311G>A p.R104H Substitution - Missense 8:58575970-58575970 + TCGA-AN-A0FW-01 COSM454711 c.609G>A p.K203K Substitution - coding silent 8:58579653-58579653 + TCGA-JW-A69B-01 COSM4829584 c.211G>T p.A71S Substitution - Missense 8:58572285-58572285 + TCGA-06-0876-01 COSM2152086 c.750G>A p.K250K Substitution - coding silent 8:58579794-58579794 + TCGA-EB-A299-01 COSM3650022 c.654A>G p.I218M Substitution - Missense 8:58579698-58579698 + TCGA-DR-A0ZM-01 COSM461419 c.514G>C p.D172H Substitution - Missense 8:58578144-58578144 + TCGA-B5-A0JY-01 COSM1100723 c.564G>T p.M188I Substitution - Missense 8:58578194-58578194 + TCGA-A3-3320-01 COSM606099 c.531G>T p.V177V Substitution - coding silent 8:58578161-58578161 + SA213 COSM213943 c.115A>C p.I39L Substitution - Missense 8:58570950-58570950 + TCGA-BR-6452-01 COSM3900813 c.764C>T p.A255V Substitution - Missense 8:58580530-58580530 + TCGA-AD-6548-01 COSM1457635 c.378A>T p.G126G Substitution - coding silent 8:58576037-58576037 + BRC16 COSM5026918 c.463G>A p.G155R Substitution - Missense 8:58578093-58578093 + TCGA-DK-A1AB-01 COSM422095 c.843G>C p.R281R Substitution - coding silent 8:58581686-58581686 + TCGA-06-0876 COSM2152086 c.750G>A p.K250K Substitution - coding silent 8:58579794-58579794 + CHEWS003 COSM4588159 c.783T>A p.S261S Substitution - coding silent 8:58580549-58580549 + TCGA-F5-6814-01 COSM3432481 c.65T>G p.F22C Substitution - Missense 8:58570900-58570900 + D2 COSM5007362 c.74A>C p.N25T Substitution - Missense 8:58570909-58570909 + TCGA-BP-4340-01 COSM3367380 c.541G>A p.A181T Substitution - Missense 8:58578171-58578171 + 23 COSM5748466 c.886C>T p.P296S Substitution - Missense 8:58581729-58581729 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.200774;Hs.200804 8q12 602217

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.I39L c.115A>C 8 59483509 BRCA A G IntronicSNV . c.1-8521A>G 8 59469072 CLL A G Missense p.I218M c.654A>G 8 59492257 CM A T Missense p.K176M c.527A>T 8 59490716 PRAD C G Synonymous p.S220S c.660C>G 8 59492263 BRCA C T Synonymous p.I39I c.117C>T 8 59483511 CLL G A Missense p.A181T c.541G>A 8 59490730 RCCC G A Missense p.G155R c.463G>A 8 59490652 BRCA G A Missense p.V209I c.625G>A 8 59492228 HNSC G A Synonymous p.K203K c.609G>A 8 59492212 BRCA G A Synonymous p.K250K c.750G>A 8 59492353 GBM G C Synonymous p.R281R c.843G>C 8 59494245 BLCA G T Synonymous p.V177V c.531G>T 8 59490720 LUAD T C Missense p.L290P c.869T>C 8 59494271 HNSC