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 17 73043506 73043506 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 g.chr17:73043506C>T c.161C>T c.(160-162)cCg>cTg p.P54L BLCA 17 73045345 73045345 + Missense_Mutation SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr17:73045345G>T c.370G>T c.(370-372)Gac>Tac p.D124Y BLCA 17 73055613 73055613 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr17:73055613G>A c.549G>A c.(547-549)gtG>gtA p.V183V BLCA 17 73055695 73055695 + Nonsense_Mutation SNP G G T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 g.chr17:73055695G>T c.631G>T c.(631-633)Gaa>Taa p.E211* CESC 17 73043594 73043594 + Missense_Mutation SNP C C G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 g.chr17:73043594C>G c.249C>G c.(247-249)ttC>ttG p.F83L CESC 17 73045417 73045417 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 g.chr17:73045417G>A c.442G>A c.(442-444)Gaa>Aaa p.E148K COAD 17 73045324 73045324 + Nonsense_Mutation SNP G G T TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr17:73045324G>T c.349G>T c.(349-351)Gga>Tga p.G117* COADREAD 17 73045324 73045324 + Nonsense_Mutation SNP G G T TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr17:73045324G>T c.349G>T c.(349-351)Gga>Tga p.G117* DLBC 17 73058249 73058249 + Missense_Mutation SNP A A G TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr17:73058249A>G c.671A>G c.(670-672)aAt>aGt p.N224S ESCA 17 73045404 73045404 + Silent SNP T T C TCGA-L5-A43I-01A-11D-A247-09 TCGA-L5-A43I-11A-11D-A247-09 g.chr17:73045404T>C c.429T>C c.(427-429)acT>acC p.T143T ESCA 17 73049184 73049184 + Missense_Mutation SNP A A T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 g.chr17:73049184A>T c.524A>T c.(523-525)gAg>gTg p.E175V GBM 17 73043590 73043590 + Missense_Mutation SNP A A G TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 g.chr17:73043590A>G c.245A>G c.(244-246)tAc>tGc p.Y82C GBM 17 73049201 73049201 + Splice_Site SNP G G A TCGA-06-0195-01B-01D-1491-08 TCGA-06-0195-10A-01D-1491-08 g.chr17:73049201G>A c.e3+1 GBMLGG 17 73043590 73043590 + Missense_Mutation SNP A A G TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 g.chr17:73043590A>G c.245A>G c.(244-246)tAc>tGc p.Y82C GBMLGG 17 73049201 73049201 + Splice_Site SNP G G A TCGA-06-0195-01B-01D-1491-08 TCGA-06-0195-10A-01D-1491-08 g.chr17:73049201G>A c.e3+1 HNSC 17 73049121 73049121 + Missense_Mutation SNP A A T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 g.chr17:73049121A>T c.461A>T c.(460-462)gAa>gTa p.E154V HNSC 17 73059132 73059132 + Missense_Mutation SNP C C T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 g.chr17:73059132C>T c.782C>T c.(781-783)tCg>tTg p.S261L KIPAN 17 73058235 73058235 + Silent SNP C C G TCGA-CZ-5457-01A-01D-1501-10 TCGA-CZ-5457-11A-01D-1501-10 g.chr17:73058235C>G c.657C>G c.(655-657)tcC>tcG p.S219S KIRC 17 73058235 73058235 + Silent SNP C C G TCGA-CZ-5457-01A-01D-1501-10 TCGA-CZ-5457-11A-01D-1501-10 g.chr17:73058235C>G c.657C>G c.(655-657)tcC>tcG p.S219S LIHC 17 73059137 73059137 + Missense_Mutation SNP A A G TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr17:73059137A>G c.787A>G c.(787-789)Atg>Gtg p.M263V LUAD 17 73043644 73043644 + Missense_Mutation SNP G G A TCGA-91-6836-01A-21D-1855-08 TCGA-91-6836-11A-01D-1855-08 g.chr17:73043644G>A c.299G>A c.(298-300)cGc>cAc p.R100H LUAD 17 73045381 73045381 + Missense_Mutation SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 g.chr17:73045381C>T c.406C>T c.(406-408)Cgc>Tgc p.R136C LUAD 17 73055632 73055632 + Silent SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 g.chr17:73055632C>T c.568C>T c.(568-570)Ctg>Ttg p.L190L LUAD 17 73055695 73055695 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr17:73055695G>C c.631G>C c.(631-633)Gaa>Caa p.E211Q LUAD 17 73059133 73059133 + Silent SNP G G A TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 g.chr17:73059133G>A c.783G>A c.(781-783)tcG>tcA p.S261S SKCM 17 73059116 73059116 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 g.chr17:73059116C>T c.766C>T c.(766-768)Ctt>Ttt p.L256F SKCM 17 73059132 73059132 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr17:73059132C>T c.782C>T c.(781-783)tCg>tTg p.S261L

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 17 73058268 73058268 single base substitution C T 3_prime_UTR_variant BLCA-CN 17 73058268 73058268 single base substitution C T exon_variant BLCA-CN 17 73058268 73058268 single base substitution C T synonymous_variant F230F 690C>T BLCA-CN 17 73058268 73058268 single base substitution C T synonymous_variant F31F 93C>T BLCA-US 17 73043506 73043506 single base substitution C T intron_variant BLCA-US 17 73043506 73043506 single base substitution C T missense_variant P54L 161C>T BLCA-US 17 73043506 73043506 single base substitution C T splice_region_variant BLCA-US 17 73043506 73043506 single base substitution C T upstream_gene_variant BLCA-US 17 73055613 73055613 single base substitution G A 3_prime_UTR_variant BLCA-US 17 73055613 73055613 single base substitution G A 5_prime_UTR_variant BLCA-US 17 73055613 73055613 single base substitution G A exon_variant BLCA-US 17 73055613 73055613 single base substitution G A synonymous_variant V183V 549G>A BLCA-US 17 73055695 73055695 single base substitution G T 3_prime_UTR_variant BLCA-US 17 73055695 73055695 single base substitution G T exon_variant BLCA-US 17 73055695 73055695 single base substitution G T stop_gained E12* 34G>T BLCA-US 17 73055695 73055695 single base substitution G T stop_gained E211* 631G>T BRCA-EU 17 73025314 73025314 single base substitution C T upstream_gene_variant BRCA-EU 17 73025381 73025382 deletion of <=200bp TG - upstream_gene_variant BRCA-EU 17 73025933 73025933 single base substitution C T upstream_gene_variant BRCA-EU 17 73026504 73026504 single base substitution G A upstream_gene_variant BRCA-EU 17 73027168 73027168 single base substitution C A upstream_gene_variant BRCA-EU 17 73029589 73029589 single base substitution C T intron_variant BRCA-EU 17 73029596 73029596 single base substitution C T intron_variant BRCA-EU 17 73030041 73030041 single base substitution C T intron_variant BRCA-EU 17 73030277 73030277 single base substitution C T intron_variant BRCA-EU 17 73030521 73030521 single base substitution C G intron_variant BRCA-EU 17 73030603 73030603 single base substitution T C intron_variant BRCA-EU 17 73030876 73030876 single base substitution G A intron_variant BRCA-EU 17 73030882 73030882 single base substitution G T intron_variant BRCA-EU 17 73030976 73030976 single base substitution A T intron_variant BRCA-EU 17 73031061 73031061 single base substitution C A intron_variant BRCA-EU 17 73031256 73031256 single base substitution G C intron_variant BRCA-EU 17 73031264 73031264 single base substitution G A intron_variant BRCA-EU 17 73031271 73031271 single base substitution T C intron_variant BRCA-EU 17 73031281 73031281 single base substitution G C intron_variant BRCA-EU 17 73031289 73031289 single base substitution T C intron_variant BRCA-EU 17 73032367 73032367 single base substitution G A intron_variant BRCA-EU 17 73033417 73033417 single base substitution C T intron_variant BRCA-EU 17 73034070 73034070 single base substitution T C intron_variant BRCA-EU 17 73034224 73034224 deletion of <=200bp T - intron_variant BRCA-EU 17 73034282 73034282 single base substitution C A intron_variant BRCA-EU 17 73035915 73035915 single base substitution C G intron_variant BRCA-EU 17 73036111 73036115 deletion of <=200bp TAACT - intron_variant BRCA-EU 17 73037170 73037170 single base substitution G C downstream_gene_variant BRCA-EU 17 73037170 73037170 single base substitution G C intron_variant BRCA-EU 17 73037785 73037785 single base substitution G A downstream_gene_variant BRCA-EU 17 73037785 73037785 single base substitution G A intron_variant BRCA-EU 17 73040805 73040805 deletion of <=200bp A - downstream_gene_variant BRCA-EU 17 73040805 73040805 deletion of <=200bp A - intron_variant BRCA-EU 17 73040805 73040805 deletion of <=200bp A - upstream_gene_variant BRCA-EU 17 73041470 73041470 single base substitution C T downstream_gene_variant BRCA-EU 17 73041470 73041470 single base substitution C T intron_variant BRCA-EU 17 73041470 73041470 single base substitution C T upstream_gene_variant BRCA-EU 17 73041946 73041946 single base substitution G A intron_variant BRCA-EU 17 73041946 73041946 single base substitution G A upstream_gene_variant BRCA-EU 17 73042721 73042721 single base substitution C A intron_variant BRCA-EU 17 73042721 73042721 single base substitution C A upstream_gene_variant BRCA-EU 17 73043127 73043127 single base substitution C T intron_variant BRCA-EU 17 73043127 73043127 single base substitution C T upstream_gene_variant BRCA-EU 17 73045079 73045082 deletion of <=200bp CTGT - intron_variant BRCA-EU 17 73046178 73046178 single base substitution C T downstream_gene_variant BRCA-EU 17 73046178 73046178 single base substitution C T intron_variant BRCA-EU 17 73046602 73046602 single base substitution C G downstream_gene_variant BRCA-EU 17 73046602 73046602 single base substitution C G intron_variant BRCA-EU 17 73046673 73046673 single base substitution T C downstream_gene_variant BRCA-EU 17 73046673 73046673 single base substitution T C intron_variant BRCA-EU 17 73047776 73047776 single base substitution C G downstream_gene_variant BRCA-EU 17 73047776 73047776 single base substitution C G intron_variant BRCA-EU 17 73049656 73049656 single base substitution C T downstream_gene_variant BRCA-EU 17 73049656 73049656 single base substitution C T intron_variant BRCA-EU 17 73049898 73049898 single base substitution A T downstream_gene_variant BRCA-EU 17 73049898 73049898 single base substitution A T intron_variant BRCA-EU 17 73051687 73051687 single base substitution G A intron_variant BRCA-EU 17 73051687 73051687 single base substitution G A upstream_gene_variant BRCA-EU 17 73052947 73052947 single base substitution C T intron_variant BRCA-EU 17 73052947 73052947 single base substitution C T upstream_gene_variant BRCA-EU 17 73055480 73055480 single base substitution G C exon_variant BRCA-EU 17 73055480 73055480 single base substitution G C intron_variant BRCA-EU 17 73056313 73056313 single base substitution T C intron_variant BRCA-EU 17 73056772 73056772 single base substitution G T intron_variant BRCA-EU 17 73058065 73058065 single base substitution C T intron_variant BRCA-EU 17 73059269 73059269 single base substitution G T 3_prime_UTR_variant BRCA-EU 17 73059269 73059269 single base substitution G T downstream_gene_variant BRCA-EU 17 73059269 73059269 single base substitution G T exon_variant BRCA-EU 17 73060562 73060562 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 73060562 73060562 single base substitution C T downstream_gene_variant BRCA-EU 17 73063239 73063239 single base substitution A G downstream_gene_variant BRCA-EU 17 73063423 73063423 single base substitution G T downstream_gene_variant BRCA-EU 17 73064084 73064084 single base substitution C T downstream_gene_variant BRCA-EU 17 73064161 73064161 single base substitution C T downstream_gene_variant BRCA-EU 17 73065490 73065490 single base substitution C T downstream_gene_variant BRCA-EU 17 73066172 73066172 single base substitution A C downstream_gene_variant BRCA-EU 17 73066461 73066461 single base substitution G A downstream_gene_variant BRCA-FR 17 73026330 73026330 single base substitution C G upstream_gene_variant BRCA-FR 17 73026504 73026504 single base substitution G A upstream_gene_variant BRCA-FR 17 73029596 73029596 single base substitution C T intron_variant BRCA-FR 17 73030521 73030521 single base substitution C G intron_variant BRCA-FR 17 73031289 73031289 single base substitution T C intron_variant BRCA-FR 17 73034282 73034282 single base substitution C A intron_variant BRCA-FR 17 73041470 73041470 single base substitution C T downstream_gene_variant BRCA-FR 17 73041470 73041470 single base substitution C T intron_variant BRCA-FR 17 73041470 73041470 single base substitution C T upstream_gene_variant BRCA-FR 17 73043127 73043127 single base substitution C T intron_variant BRCA-FR 17 73043127 73043127 single base substitution C T upstream_gene_variant BRCA-FR 17 73044319 73044319 single base substitution G A intron_variant BRCA-FR 17 73044319 73044319 single base substitution G A upstream_gene_variant BRCA-FR 17 73052947 73052947 single base substitution C T intron_variant BRCA-FR 17 73052947 73052947 single base substitution C T upstream_gene_variant BRCA-FR 17 73058065 73058065 single base substitution C T intron_variant BRCA-UK 17 73025314 73025314 single base substitution C T upstream_gene_variant BRCA-UK 17 73029589 73029589 single base substitution C T intron_variant BRCA-UK 17 73031061 73031061 single base substitution C A intron_variant BRCA-UK 17 73031186 73031186 single base substitution C T intron_variant BRCA-UK 17 73031237 73031237 single base substitution G A intron_variant BRCA-UK 17 73045079 73045082 deletion of <=200bp CTGT - intron_variant BRCA-UK 17 73064840 73064840 single base substitution G A downstream_gene_variant BTCA-JP 17 73058249 73058249 single base substitution A G 3_prime_UTR_variant BTCA-JP 17 73058249 73058249 single base substitution A G exon_variant BTCA-JP 17 73058249 73058249 single base substitution A G missense_variant N224S 671A>G BTCA-JP 17 73058249 73058249 single base substitution A G missense_variant N25S 74A>G BTCA-JP 17 73058340 73058340 single base substitution G T missense_variant K254N 762G>T BTCA-JP 17 73058340 73058340 single base substitution G T missense_variant K55N 165G>T BTCA-JP 17 73058340 73058340 single base substitution G T splice_region_variant BTCA-JP 17 73058386 73058386 single base substitution G A intron_variant BTCA-JP 17 73059074 73059074 single base substitution C T intron_variant CESC-US 17 73035359 73035359 single base substitution G T intron_variant CESC-US 17 73043594 73043594 single base substitution C G exon_variant CESC-US 17 73043594 73043594 single base substitution C G intron_variant CESC-US 17 73043594 73043594 single base substitution C G missense_variant F83L 249C>G CESC-US 17 73043594 73043594 single base substitution C G upstream_gene_variant CESC-US 17 73045417 73045417 single base substitution G A 3_prime_UTR_variant CESC-US 17 73045417 73045417 single base substitution G A 5_prime_UTR_variant CESC-US 17 73045417 73045417 single base substitution G A downstream_gene_variant CESC-US 17 73045417 73045417 single base substitution G A exon_variant CESC-US 17 73045417 73045417 single base substitution G A missense_variant E148K 442G>A COAD-US 17 73038647 73038647 single base substitution G A downstream_gene_variant COAD-US 17 73038647 73038647 single base substitution G A intron_variant COAD-US 17 73038647 73038647 single base substitution G A upstream_gene_variant COAD-US 17 73045324 73045324 single base substitution G T 3_prime_UTR_variant COAD-US 17 73045324 73045324 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant COAD-US 17 73045324 73045324 single base substitution G T exon_variant COAD-US 17 73045324 73045324 single base substitution G T stop_gained G117* 349G>T COAD-US 17 73059135 73059135 single base substitution G A 3_prime_UTR_variant COAD-US 17 73059135 73059135 single base substitution G A exon_variant COAD-US 17 73059135 73059135 single base substitution G A missense_variant R262Q 785G>A COAD-US 17 73059135 73059135 single base substitution G A missense_variant R63Q 188G>A COCA-CN 17 73048920 73048920 single base substitution C T downstream_gene_variant COCA-CN 17 73048920 73048920 single base substitution C T intron_variant COCA-CN 17 73058298 73058298 single base substitution T C 3_prime_UTR_variant COCA-CN 17 73058298 73058298 single base substitution T C exon_variant COCA-CN 17 73058298 73058298 single base substitution T C synonymous_variant N240N 720T>C COCA-CN 17 73058298 73058298 single base substitution T C synonymous_variant N41N 123T>C COCA-CN 17 73058314 73058314 single base substitution G A 3_prime_UTR_variant COCA-CN 17 73058314 73058314 single base substitution G A exon_variant COCA-CN 17 73058314 73058314 single base substitution G A missense_variant V246I 736G>A COCA-CN 17 73058314 73058314 single base substitution G A missense_variant V47I 139G>A COCA-CN 17 73059178 73059178 single base substitution C T 3_prime_UTR_variant COCA-CN 17 73059178 73059178 single base substitution C T exon_variant ESAD-UK 17 73024800 73024800 single base substitution C A upstream_gene_variant ESAD-UK 17 73024865 73024865 single base substitution A T upstream_gene_variant ESAD-UK 17 73024957 73024957 single base substitution G A upstream_gene_variant ESAD-UK 17 73026759 73026759 single base substitution C T upstream_gene_variant ESAD-UK 17 73027850 73027850 single base substitution G T upstream_gene_variant ESAD-UK 17 73028229 73028229 single base substitution T C upstream_gene_variant ESAD-UK 17 73031263 73031263 single base substitution C T intron_variant ESAD-UK 17 73031578 73031578 single base substitution G A intron_variant ESAD-UK 17 73032607 73032607 single base substitution C A intron_variant ESAD-UK 17 73033136 73033136 single base substitution A G intron_variant ESAD-UK 17 73035637 73035637 single base substitution C T intron_variant ESAD-UK 17 73035877 73035877 single base substitution G C intron_variant ESAD-UK 17 73035960 73035960 single base substitution G C intron_variant ESAD-UK 17 73036562 73036562 single base substitution G C downstream_gene_variant ESAD-UK 17 73036562 73036562 single base substitution G C intron_variant ESAD-UK 17 73037148 73037148 single base substitution T C downstream_gene_variant ESAD-UK 17 73037148 73037148 single base substitution T C intron_variant ESAD-UK 17 73037218 73037218 single base substitution C T downstream_gene_variant ESAD-UK 17 73037218 73037218 single base substitution C T intron_variant ESAD-UK 17 73040974 73040974 single base substitution T A downstream_gene_variant ESAD-UK 17 73040974 73040974 single base substitution T A intron_variant ESAD-UK 17 73040974 73040974 single base substitution T A upstream_gene_variant ESAD-UK 17 73046178 73046178 single base substitution C T downstream_gene_variant ESAD-UK 17 73046178 73046178 single base substitution C T intron_variant ESAD-UK 17 73046347 73046347 single base substitution A C downstream_gene_variant ESAD-UK 17 73046347 73046347 single base substitution A C intron_variant ESAD-UK 17 73047594 73047594 single base substitution T A downstream_gene_variant ESAD-UK 17 73047594 73047594 single base substitution T A intron_variant ESAD-UK 17 73048177 73048177 single base substitution T C downstream_gene_variant ESAD-UK 17 73048177 73048177 single base substitution T C intron_variant ESAD-UK 17 73048328 73048328 single base substitution C T downstream_gene_variant ESAD-UK 17 73048328 73048328 single base substitution C T intron_variant ESAD-UK 17 73049660 73049660 single base substitution C T downstream_gene_variant ESAD-UK 17 73049660 73049660 single base substitution C T intron_variant ESAD-UK 17 73050149 73050149 single base substitution G A downstream_gene_variant ESAD-UK 17 73050149 73050149 single base substitution G A intron_variant ESAD-UK 17 73054431 73054431 single base substitution A G intron_variant ESAD-UK 17 73054431 73054431 single base substitution A G upstream_gene_variant ESAD-UK 17 73054433 73054433 single base substitution G A intron_variant ESAD-UK 17 73054433 73054433 single base substitution G A upstream_gene_variant ESAD-UK 17 73054684 73054684 single base substitution G A intron_variant ESAD-UK 17 73054684 73054684 single base substitution G A upstream_gene_variant ESAD-UK 17 73056073 73056073 single base substitution T G intron_variant ESAD-UK 17 73056481 73056481 single base substitution G A intron_variant ESAD-UK 17 73058144 73058144 single base substitution G T intron_variant ESAD-UK 17 73058427 73058427 single base substitution T G intron_variant ESAD-UK 17 73061919 73061919 single base substitution G C 3_prime_UTR_variant ESAD-UK 17 73061919 73061919 single base substitution G C downstream_gene_variant ESAD-UK 17 73062312 73062312 single base substitution C A downstream_gene_variant ESAD-UK 17 73063793 73063793 single base substitution A C downstream_gene_variant ESAD-UK 17 73064601 73064601 single base substitution A C downstream_gene_variant ESAD-UK 17 73066154 73066154 single base substitution A G downstream_gene_variant ESAD-UK 17 73066320 73066320 single base substitution G T downstream_gene_variant ESAD-UK 17 73066533 73066533 single base substitution G A downstream_gene_variant ESAD-UK 17 73066761 73066761 single base substitution C T downstream_gene_variant ESCA-CN 17 73038368 73038368 single base substitution C A downstream_gene_variant ESCA-CN 17 73038368 73038368 single base substitution C A intron_variant ESCA-CN 17 73038368 73038368 single base substitution C A upstream_gene_variant ESCA-CN 17 73049228 73049228 single base substitution G A downstream_gene_variant ESCA-CN 17 73049228 73049228 single base substitution G A intron_variant GBM-US 17 73043590 73043590 single base substitution A G exon_variant GBM-US 17 73043590 73043590 single base substitution A G intron_variant GBM-US 17 73043590 73043590 single base substitution A G missense_variant Y82C 245A>G GBM-US 17 73043590 73043590 single base substitution A G upstream_gene_variant GBM-US 17 73049201 73049201 single base substitution G A downstream_gene_variant GBM-US 17 73049201 73049201 single base substitution G A splice_donor_variant KIRC-US 17 73058235 73058235 single base substitution C G 3_prime_UTR_variant KIRC-US 17 73058235 73058235 single base substitution C G exon_variant KIRC-US 17 73058235 73058235 single base substitution C G synonymous_variant S20S 60C>G KIRC-US 17 73058235 73058235 single base substitution C G synonymous_variant S219S 657C>G LAML-KR 17 73037436 73037436 single base substitution T C downstream_gene_variant LAML-KR 17 73037436 73037436 single base substitution T C intron_variant LAML-KR 17 73049221 73049221 single base substitution A G downstream_gene_variant LAML-KR 17 73049221 73049221 single base substitution A G intron_variant LAML-KR 17 73049228 73049228 single base substitution G A downstream_gene_variant LAML-KR 17 73049228 73049228 single base substitution G A intron_variant LAML-KR 17 73054784 73054784 single base substitution T C intron_variant LAML-KR 17 73054784 73054784 single base substitution T C upstream_gene_variant LAML-KR 17 73054800 73054800 single base substitution G A intron_variant LAML-KR 17 73054800 73054800 single base substitution G A upstream_gene_variant LICA-CN 17 73038331 73038331 single base substitution G T downstream_gene_variant LICA-CN 17 73038331 73038331 single base substitution G T intron_variant LICA-CN 17 73038331 73038331 single base substitution G T upstream_gene_variant LICA-FR 17 73025491 73025491 single base substitution G A upstream_gene_variant LICA-FR 17 73031178 73031178 single base substitution T C intron_variant LICA-FR 17 73035115 73035115 single base substitution A G intron_variant LICA-FR 17 73055635 73055635 single base substitution C T 3_prime_UTR_variant LICA-FR 17 73055635 73055635 single base substitution C T 5_prime_UTR_variant LICA-FR 17 73055635 73055635 single base substitution C T exon_variant LICA-FR 17 73055635 73055635 single base substitution C T stop_gained Q191* 571C>T LICA-FR 17 73062272 73062272 deletion of <=200bp T - downstream_gene_variant LINC-JP 17 73025362 73025362 single base substitution C T upstream_gene_variant LINC-JP 17 73038330 73038330 single base substitution A T downstream_gene_variant LINC-JP 17 73038330 73038330 single base substitution A T intron_variant LINC-JP 17 73038330 73038330 single base substitution A T upstream_gene_variant LINC-JP 17 73039193 73039193 single base substitution A G downstream_gene_variant LINC-JP 17 73039193 73039193 single base substitution A G intron_variant LINC-JP 17 73039193 73039193 single base substitution A G upstream_gene_variant LINC-JP 17 73042870 73042870 single base substitution G C intron_variant LINC-JP 17 73042870 73042870 single base substitution G C upstream_gene_variant LINC-JP 17 73045130 73045130 single base substitution C A intron_variant LINC-JP 17 73047679 73047679 deletion of <=200bp T - downstream_gene_variant LINC-JP 17 73047679 73047679 deletion of <=200bp T - intron_variant LINC-JP 17 73056327 73056327 deletion of <=200bp T - intron_variant LINC-JP 17 73058224 73058224 single base substitution A G 3_prime_UTR_variant LINC-JP 17 73058224 73058224 single base substitution A G exon_variant LINC-JP 17 73058224 73058224 single base substitution A G missense_variant I17V 49A>G LINC-JP 17 73058224 73058224 single base substitution A G missense_variant I216V 646A>G LIRI-JP 17 73028687 73028687 single base substitution G A exon_variant LIRI-JP 17 73028687 73028687 single base substitution G A upstream_gene_variant LIRI-JP 17 73030495 73030495 single base substitution A G intron_variant LIRI-JP 17 73038219 73038219 single base substitution T C downstream_gene_variant LIRI-JP 17 73038219 73038219 single base substitution T C intron_variant LIRI-JP 17 73042318 73042318 single base substitution T C intron_variant LIRI-JP 17 73042318 73042318 single base substitution T C upstream_gene_variant LIRI-JP 17 73042519 73042519 single base substitution C T intron_variant LIRI-JP 17 73042519 73042519 single base substitution C T upstream_gene_variant LIRI-JP 17 73044490 73044490 single base substitution C A intron_variant LIRI-JP 17 73044490 73044490 single base substitution C A upstream_gene_variant LIRI-JP 17 73048072 73048072 single base substitution T C downstream_gene_variant LIRI-JP 17 73048072 73048072 single base substitution T C intron_variant LIRI-JP 17 73050815 73050815 single base substitution T C intron_variant LIRI-JP 17 73050815 73050815 single base substitution T C upstream_gene_variant LIRI-JP 17 73052933 73052933 single base substitution G T intron_variant LIRI-JP 17 73052933 73052933 single base substitution G T upstream_gene_variant LIRI-JP 17 73054409 73054409 single base substitution G T intron_variant LIRI-JP 17 73054409 73054409 single base substitution G T upstream_gene_variant LIRI-JP 17 73055906 73055906 single base substitution T C intron_variant LIRI-JP 17 73057742 73057742 single base substitution C T intron_variant LIRI-JP 17 73059730 73059730 single base substitution G T 3_prime_UTR_variant LIRI-JP 17 73059730 73059730 single base substitution G T downstream_gene_variant LIRI-JP 17 73062495 73062495 single base substitution G T downstream_gene_variant LIRI-JP 17 73066714 73066714 single base substitution T C downstream_gene_variant LUSC-KR 17 73025085 73025085 single base substitution G A upstream_gene_variant LUSC-KR 17 73025177 73025177 single base substitution A T upstream_gene_variant LUSC-KR 17 73029217 73029217 single base substitution A G intron_variant LUSC-KR 17 73029220 73029220 single base substitution T A intron_variant LUSC-KR 17 73029705 73029705 single base substitution G C intron_variant LUSC-KR 17 73030498 73030498 single base substitution G T intron_variant LUSC-KR 17 73031204 73031204 single base substitution C A intron_variant LUSC-KR 17 73031264 73031264 single base substitution G A intron_variant LUSC-KR 17 73031289 73031289 single base substitution T C intron_variant LUSC-KR 17 73043699 73043699 single base substitution C A intron_variant LUSC-KR 17 73043699 73043699 single base substitution C A upstream_gene_variant LUSC-KR 17 73052230 73052230 single base substitution A G intron_variant LUSC-KR 17 73052230 73052230 single base substitution A G upstream_gene_variant LUSC-KR 17 73062292 73062292 single base substitution C T downstream_gene_variant MALY-DE 17 73024699 73024699 deletion of <=200bp A - upstream_gene_variant MALY-DE 17 73024866 73024866 single base substitution G T upstream_gene_variant MALY-DE 17 73027851 73027851 single base substitution G T upstream_gene_variant MALY-DE 17 73027923 73027923 deletion of <=200bp A - upstream_gene_variant MALY-DE 17 73030450 73030450 single base substitution C T intron_variant MALY-DE 17 73030794 73030794 single base substitution C T intron_variant MALY-DE 17 73031263 73031263 single base substitution C T intron_variant MALY-DE 17 73042678 73042678 single base substitution G C intron_variant MALY-DE 17 73042678 73042678 single base substitution G C upstream_gene_variant MALY-DE 17 73045817 73045817 single base substitution T C downstream_gene_variant MALY-DE 17 73045817 73045817 single base substitution T C intron_variant MALY-DE 17 73061283 73061283 single base substitution G C 3_prime_UTR_variant MALY-DE 17 73061283 73061283 single base substitution G C downstream_gene_variant MALY-DE 17 73066034 73066034 single base substitution G A downstream_gene_variant MELA-AU 17 73024064 73024064 single base substitution C T upstream_gene_variant MELA-AU 17 73024472 73024472 single base substitution G A upstream_gene_variant MELA-AU 17 73024576 73024576 single base substitution C T upstream_gene_variant MELA-AU 17 73024878 73024878 single base substitution G A upstream_gene_variant MELA-AU 17 73024993 73024993 single base substitution G A upstream_gene_variant MELA-AU 17 73025152 73025152 single base substitution A C upstream_gene_variant MELA-AU 17 73025233 73025233 single base substitution C T upstream_gene_variant MELA-AU 17 73025381 73025381 insertion of <=200bp - TG upstream_gene_variant MELA-AU 17 73025773 73025773 single base substitution T A upstream_gene_variant MELA-AU 17 73025825 73025825 single base substitution C T upstream_gene_variant MELA-AU 17 73025835 73025835 single base substitution G A upstream_gene_variant MELA-AU 17 73025973 73025973 single base substitution G T upstream_gene_variant MELA-AU 17 73025987 73025987 single base substitution C T upstream_gene_variant MELA-AU 17 73026084 73026084 single base substitution G A upstream_gene_variant MELA-AU 17 73026311 73026311 single base substitution G A upstream_gene_variant MELA-AU 17 73026500 73026500 single base substitution A T upstream_gene_variant MELA-AU 17 73026677 73026677 single base substitution G A upstream_gene_variant MELA-AU 17 73026690 73026690 single base substitution C T upstream_gene_variant MELA-AU 17 73026714 73026714 single base substitution G A upstream_gene_variant MELA-AU 17 73026795 73026795 single base substitution G A upstream_gene_variant MELA-AU 17 73027300 73027300 single base substitution G A upstream_gene_variant MELA-AU 17 73027477 73027477 single base substitution G A upstream_gene_variant MELA-AU 17 73027629 73027629 single base substitution C T upstream_gene_variant MELA-AU 17 73027779 73027779 single base substitution C T upstream_gene_variant MELA-AU 17 73028552 73028552 single base substitution G C upstream_gene_variant MELA-AU 17 73029030 73029030 single base substitution G A exon_variant MELA-AU 17 73029030 73029030 single base substitution G A intron_variant MELA-AU 17 73029970 73029970 single base substitution G A intron_variant MELA-AU 17 73030150 73030150 single base substitution C T 5_prime_UTR_variant MELA-AU 17 73030150 73030150 single base substitution C T exon_variant MELA-AU 17 73030614 73030614 single base substitution A T intron_variant MELA-AU 17 73031246 73031246 single base substitution T G intron_variant MELA-AU 17 73031312 73031312 single base substitution C T intron_variant MELA-AU 17 73031904 73031904 single base substitution G A intron_variant MELA-AU 17 73032240 73032240 single base substitution C T intron_variant MELA-AU 17 73035896 73035896 single base substitution G A intron_variant MELA-AU 17 73036277 73036277 single base substitution G A exon_variant MELA-AU 17 73036277 73036277 single base substitution G A intron_variant MELA-AU 17 73037083 73037083 single base substitution G A downstream_gene_variant MELA-AU 17 73037083 73037083 single base substitution G A intron_variant MELA-AU 17 73037392 73037392 single base substitution G A downstream_gene_variant MELA-AU 17 73037392 73037392 single base substitution G A intron_variant MELA-AU 17 73038969 73038969 single base substitution C T downstream_gene_variant MELA-AU 17 73038969 73038969 single base substitution C T intron_variant MELA-AU 17 73038969 73038969 single base substitution C T upstream_gene_variant MELA-AU 17 73039219 73039219 single base substitution G A downstream_gene_variant MELA-AU 17 73039219 73039219 single base substitution G A intron_variant MELA-AU 17 73039219 73039219 single base substitution G A upstream_gene_variant MELA-AU 17 73039437 73039437 single base substitution T G downstream_gene_variant MELA-AU 17 73039437 73039437 single base substitution T G intron_variant MELA-AU 17 73039437 73039437 single base substitution T G upstream_gene_variant MELA-AU 17 73039776 73039776 single base substitution A T downstream_gene_variant MELA-AU 17 73039776 73039776 single base substitution A T intron_variant MELA-AU 17 73039776 73039776 single base substitution A T upstream_gene_variant MELA-AU 17 73040210 73040210 single base substitution C T downstream_gene_variant MELA-AU 17 73040210 73040210 single base substitution C T intron_variant MELA-AU 17 73040210 73040210 single base substitution C T upstream_gene_variant MELA-AU 17 73040921 73040921 single base substitution G A downstream_gene_variant MELA-AU 17 73040921 73040921 single base substitution G A intron_variant MELA-AU 17 73040921 73040921 single base substitution G A upstream_gene_variant MELA-AU 17 73041177 73041177 single base substitution G A downstream_gene_variant MELA-AU 17 73041177 73041177 single base substitution G A intron_variant MELA-AU 17 73041177 73041177 single base substitution G A upstream_gene_variant MELA-AU 17 73041599 73041599 single base substitution G A intron_variant MELA-AU 17 73041599 73041599 single base substitution G A upstream_gene_variant MELA-AU 17 73042022 73042022 single base substitution G A intron_variant MELA-AU 17 73042022 73042022 single base substitution G A upstream_gene_variant MELA-AU 17 73043070 73043070 single base substitution G A intron_variant MELA-AU 17 73043070 73043070 single base substitution G A upstream_gene_variant MELA-AU 17 73043081 73043081 single base substitution G A intron_variant MELA-AU 17 73043081 73043081 single base substitution G A upstream_gene_variant MELA-AU 17 73043112 73043113 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 73043112 73043113 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 73043119 73043119 single base substitution C T intron_variant MELA-AU 17 73043119 73043119 single base substitution C T upstream_gene_variant MELA-AU 17 73043124 73043124 single base substitution C T intron_variant MELA-AU 17 73043124 73043124 single base substitution C T upstream_gene_variant MELA-AU 17 73043127 73043127 single base substitution C T intron_variant MELA-AU 17 73043127 73043127 single base substitution C T upstream_gene_variant MELA-AU 17 73043131 73043131 single base substitution G A intron_variant MELA-AU 17 73043131 73043131 single base substitution G A upstream_gene_variant MELA-AU 17 73043155 73043155 single base substitution G A intron_variant MELA-AU 17 73043155 73043155 single base substitution G A upstream_gene_variant MELA-AU 17 73043162 73043162 single base substitution G A intron_variant MELA-AU 17 73043162 73043162 single base substitution G A upstream_gene_variant MELA-AU 17 73043173 73043174 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 73043173 73043174 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 73043865 73043865 single base substitution C T intron_variant MELA-AU 17 73043865 73043865 single base substitution C T upstream_gene_variant MELA-AU 17 73044329 73044330 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 73044329 73044330 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 73044581 73044581 single base substitution G A intron_variant MELA-AU 17 73044581 73044581 single base substitution G A upstream_gene_variant MELA-AU 17 73045341 73045341 single base substitution C T 3_prime_UTR_variant MELA-AU 17 73045341 73045341 single base substitution C T 5_prime_UTR_variant MELA-AU 17 73045341 73045341 single base substitution C T exon_variant MELA-AU 17 73045341 73045341 single base substitution C T synonymous_variant D122D 366C>T MELA-AU 17 73045461 73045461 single base substitution A T downstream_gene_variant MELA-AU 17 73045461 73045461 single base substitution A T intron_variant MELA-AU 17 73046797 73046797 single base substitution A G downstream_gene_variant MELA-AU 17 73046797 73046797 single base substitution A G intron_variant MELA-AU 17 73047411 73047411 single base substitution C T downstream_gene_variant MELA-AU 17 73047411 73047411 single base substitution C T intron_variant MELA-AU 17 73048174 73048174 single base substitution A G downstream_gene_variant MELA-AU 17 73048174 73048174 single base substitution A G intron_variant MELA-AU 17 73048327 73048328 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 73048327 73048328 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 73048786 73048787 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 73048786 73048787 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 73048871 73048871 single base substitution C T downstream_gene_variant MELA-AU 17 73048871 73048871 single base substitution C T intron_variant MELA-AU 17 73049048 73049048 single base substitution C T downstream_gene_variant MELA-AU 17 73049048 73049048 single base substitution C T intron_variant MELA-AU 17 73049106 73049106 single base substitution C T downstream_gene_variant MELA-AU 17 73049106 73049106 single base substitution C T splice_region_variant MELA-AU 17 73049652 73049652 single base substitution C T downstream_gene_variant MELA-AU 17 73049652 73049652 single base substitution C T intron_variant MELA-AU 17 73049717 73049717 single base substitution T C downstream_gene_variant MELA-AU 17 73049717 73049717 single base substitution T C intron_variant MELA-AU 17 73049771 73049771 single base substitution C T downstream_gene_variant MELA-AU 17 73049771 73049771 single base substitution C T intron_variant MELA-AU 17 73050531 73050531 single base substitution G A intron_variant MELA-AU 17 73050531 73050531 single base substitution G A upstream_gene_variant MELA-AU 17 73050595 73050595 single base substitution C T intron_variant MELA-AU 17 73050595 73050595 single base substitution C T upstream_gene_variant MELA-AU 17 73051025 73051025 single base substitution C T intron_variant MELA-AU 17 73051025 73051025 single base substitution C T upstream_gene_variant MELA-AU 17 73051138 73051138 single base substitution A C intron_variant MELA-AU 17 73051138 73051138 single base substitution A C upstream_gene_variant MELA-AU 17 73051559 73051559 single base substitution C T intron_variant MELA-AU 17 73051559 73051559 single base substitution C T upstream_gene_variant MELA-AU 17 73051590 73051590 single base substitution C T intron_variant MELA-AU 17 73051590 73051590 single base substitution C T upstream_gene_variant MELA-AU 17 73051597 73051597 single base substitution G A intron_variant MELA-AU 17 73051597 73051597 single base substitution G A upstream_gene_variant MELA-AU 17 73051990 73051990 single base substitution G A intron_variant MELA-AU 17 73051990 73051990 single base substitution G A upstream_gene_variant MELA-AU 17 73052206 73052206 single base substitution C T intron_variant MELA-AU 17 73052206 73052206 single base substitution C T upstream_gene_variant MELA-AU 17 73052475 73052475 single base substitution T G intron_variant MELA-AU 17 73052475 73052475 single base substitution T G upstream_gene_variant MELA-AU 17 73052900 73052900 single base substitution C T intron_variant MELA-AU 17 73052900 73052900 single base substitution C T upstream_gene_variant MELA-AU 17 73053390 73053390 single base substitution T C intron_variant MELA-AU 17 73053390 73053390 single base substitution T C upstream_gene_variant MELA-AU 17 73053599 73053599 single base substitution G A intron_variant MELA-AU 17 73053599 73053599 single base substitution G A upstream_gene_variant MELA-AU 17 73053672 73053672 single base substitution C T intron_variant MELA-AU 17 73053672 73053672 single base substitution C T upstream_gene_variant MELA-AU 17 73054069 73054069 single base substitution C T intron_variant MELA-AU 17 73054069 73054069 single base substitution C T upstream_gene_variant MELA-AU 17 73054195 73054195 single base substitution G T intron_variant MELA-AU 17 73054195 73054195 single base substitution G T upstream_gene_variant MELA-AU 17 73054347 73054348 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 73054347 73054348 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 73054354 73054354 single base substitution G A intron_variant MELA-AU 17 73054354 73054354 single base substitution G A upstream_gene_variant MELA-AU 17 73054491 73054491 single base substitution C T intron_variant MELA-AU 17 73054491 73054491 single base substitution C T upstream_gene_variant MELA-AU 17 73054720 73054720 single base substitution C T intron_variant MELA-AU 17 73054720 73054720 single base substitution C T upstream_gene_variant MELA-AU 17 73056175 73056175 single base substitution C T intron_variant MELA-AU 17 73056371 73056371 single base substitution C T intron_variant MELA-AU 17 73057096 73057096 single base substitution T C intron_variant MELA-AU 17 73057243 73057243 single base substitution C T intron_variant MELA-AU 17 73057254 73057255 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 73057618 73057619 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 73057704 73057704 single base substitution C T intron_variant MELA-AU 17 73058036 73058036 single base substitution C T intron_variant MELA-AU 17 73058357 73058357 single base substitution C T intron_variant MELA-AU 17 73058850 73058850 single base substitution C T intron_variant MELA-AU 17 73059728 73059728 single base substitution G C 3_prime_UTR_variant MELA-AU 17 73059728 73059728 single base substitution G C downstream_gene_variant MELA-AU 17 73059800 73059800 single base substitution C T 3_prime_UTR_variant MELA-AU 17 73059800 73059800 single base substitution C T downstream_gene_variant MELA-AU 17 73061201 73061201 single base substitution C T 3_prime_UTR_variant MELA-AU 17 73061201 73061201 single base substitution C T downstream_gene_variant MELA-AU 17 73061593 73061593 single base substitution C T 3_prime_UTR_variant MELA-AU 17 73061593 73061593 single base substitution C T downstream_gene_variant MELA-AU 17 73061828 73061828 single base substitution G A 3_prime_UTR_variant MELA-AU 17 73061828 73061828 single base substitution G A downstream_gene_variant MELA-AU 17 73062515 73062515 single base substitution C T downstream_gene_variant MELA-AU 17 73062712 73062712 single base substitution C G downstream_gene_variant MELA-AU 17 73062805 73062805 single base substitution C T downstream_gene_variant MELA-AU 17 73063036 73063036 single base substitution G A downstream_gene_variant MELA-AU 17 73063304 73063304 single base substitution C T downstream_gene_variant MELA-AU 17 73063678 73063678 single base substitution G A downstream_gene_variant MELA-AU 17 73063838 73063838 single base substitution C T downstream_gene_variant MELA-AU 17 73064137 73064137 single base substitution T C downstream_gene_variant MELA-AU 17 73064184 73064184 single base substitution T G downstream_gene_variant MELA-AU 17 73064233 73064233 single base substitution G C downstream_gene_variant MELA-AU 17 73064447 73064447 single base substitution C T downstream_gene_variant MELA-AU 17 73064505 73064505 single base substitution C T downstream_gene_variant MELA-AU 17 73065194 73065194 single base substitution G A downstream_gene_variant MELA-AU 17 73065456 73065456 single base substitution C T downstream_gene_variant MELA-AU 17 73065633 73065633 single base substitution G A downstream_gene_variant MELA-AU 17 73065727 73065727 single base substitution C T downstream_gene_variant MELA-AU 17 73066020 73066020 single base substitution G A downstream_gene_variant MELA-AU 17 73066316 73066316 single base substitution C T downstream_gene_variant MELA-AU 17 73066755 73066755 single base substitution C T downstream_gene_variant MELA-AU 17 73066798 73066798 single base substitution C T downstream_gene_variant MELA-AU 17 73066800 73066800 single base substitution G A downstream_gene_variant ORCA-IN 17 73029778 73029778 single base substitution C A intron_variant ORCA-IN 17 73037157 73037157 single base substitution G A downstream_gene_variant ORCA-IN 17 73037157 73037157 single base substitution G A intron_variant OV-AU 17 73024828 73024828 single base substitution G C upstream_gene_variant OV-AU 17 73027266 73027266 single base substitution C T upstream_gene_variant OV-AU 17 73035440 73035440 single base substitution G A intron_variant OV-AU 17 73037463 73037463 single base substitution A G downstream_gene_variant OV-AU 17 73037463 73037463 single base substitution A G intron_variant OV-AU 17 73050610 73050610 single base substitution C G intron_variant OV-AU 17 73050610 73050610 single base substitution C G upstream_gene_variant OV-AU 17 73052273 73052273 single base substitution G C intron_variant OV-AU 17 73052273 73052273 single base substitution G C upstream_gene_variant OV-AU 17 73054280 73054280 single base substitution G A intron_variant OV-AU 17 73054280 73054280 single base substitution G A upstream_gene_variant OV-AU 17 73065051 73065051 single base substitution C G downstream_gene_variant PACA-AU 17 73023704 73023704 single base substitution C T upstream_gene_variant PACA-AU 17 73023966 73023966 single base substitution G A upstream_gene_variant PACA-AU 17 73029994 73029994 single base substitution G A intron_variant PACA-AU 17 73030594 73030594 single base substitution G A intron_variant PACA-AU 17 73034538 73034538 single base substitution C T intron_variant PACA-AU 17 73039189 73039189 single base substitution C T downstream_gene_variant PACA-AU 17 73039189 73039189 single base substitution C T intron_variant PACA-AU 17 73039189 73039189 single base substitution C T upstream_gene_variant PACA-AU 17 73040590 73040590 single base substitution G A downstream_gene_variant PACA-AU 17 73040590 73040590 single base substitution G A intron_variant PACA-AU 17 73040590 73040590 single base substitution G A upstream_gene_variant PACA-AU 17 73040592 73040592 single base substitution G A downstream_gene_variant PACA-AU 17 73040592 73040592 single base substitution G A intron_variant PACA-AU 17 73040592 73040592 single base substitution G A upstream_gene_variant PACA-AU 17 73040596 73040596 single base substitution G A downstream_gene_variant PACA-AU 17 73040596 73040596 single base substitution G A intron_variant PACA-AU 17 73040596 73040596 single base substitution G A upstream_gene_variant PACA-AU 17 73041751 73041751 insertion of <=200bp - T intron_variant PACA-AU 17 73041751 73041751 insertion of <=200bp - T upstream_gene_variant PACA-AU 17 73051926 73051926 single base substitution C A intron_variant PACA-AU 17 73051926 73051926 single base substitution C A upstream_gene_variant PACA-AU 17 73060921 73060921 single base substitution G A 3_prime_UTR_variant PACA-AU 17 73060921 73060921 single base substitution G A downstream_gene_variant PACA-AU 17 73061926 73061926 single base substitution C T 3_prime_UTR_variant PACA-AU 17 73061926 73061926 single base substitution C T downstream_gene_variant PACA-AU 17 73062515 73062515 single base substitution C T downstream_gene_variant PACA-AU 17 73062815 73062815 single base substitution C T downstream_gene_variant PACA-AU 17 73064720 73064720 single base substitution A G downstream_gene_variant PACA-AU 17 73065102 73065102 single base substitution C A downstream_gene_variant PACA-AU 17 73065163 73065163 single base substitution T G downstream_gene_variant PACA-CA 17 73028738 73028738 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 17 73028738 73028738 single base substitution C A exon_variant PACA-CA 17 73029501 73029501 single base substitution A C intron_variant PACA-CA 17 73030558 73030558 single base substitution G A intron_variant PACA-CA 17 73040598 73040599 deletion of <=200bp CC - downstream_gene_variant PACA-CA 17 73040598 73040599 deletion of <=200bp CC - intron_variant PACA-CA 17 73040598 73040599 deletion of <=200bp CC - upstream_gene_variant PACA-CA 17 73041880 73041880 single base substitution T C intron_variant PACA-CA 17 73041880 73041880 single base substitution T C upstream_gene_variant PACA-CA 17 73042830 73042830 single base substitution C A intron_variant PACA-CA 17 73042830 73042830 single base substitution C A upstream_gene_variant PACA-CA 17 73045064 73045065 deletion of <=200bp CC - intron_variant PACA-CA 17 73045067 73045073 deletion of <=200bp AAATGAG - intron_variant PACA-CA 17 73046610 73046610 single base substitution A G downstream_gene_variant PACA-CA 17 73046610 73046610 single base substitution A G intron_variant PACA-CA 17 73052614 73052614 single base substitution A G intron_variant PACA-CA 17 73052614 73052614 single base substitution A G upstream_gene_variant PACA-CA 17 73053863 73053863 single base substitution C T intron_variant PACA-CA 17 73053863 73053863 single base substitution C T upstream_gene_variant PACA-CA 17 73060576 73060576 single base substitution G T 3_prime_UTR_variant PACA-CA 17 73060576 73060576 single base substitution G T downstream_gene_variant PACA-CA 17 73062238 73062238 single base substitution A T downstream_gene_variant PACA-CA 17 73065229 73065229 single base substitution A T downstream_gene_variant PAEN-AU 17 73025441 73025441 single base substitution C A upstream_gene_variant PAEN-IT 17 73024263 73024263 single base substitution G C upstream_gene_variant PAEN-IT 17 73052558 73052558 single base substitution C A intron_variant PAEN-IT 17 73052558 73052558 single base substitution C A upstream_gene_variant PAEN-IT 17 73062362 73062362 single base substitution C A downstream_gene_variant PBCA-DE 17 73024719 73024719 single base substitution C T upstream_gene_variant PBCA-DE 17 73024735 73024735 single base substitution A G upstream_gene_variant PBCA-DE 17 73024747 73024747 single base substitution G C upstream_gene_variant PBCA-DE 17 73024751 73024751 single base substitution C T upstream_gene_variant PBCA-DE 17 73032809 73032809 single base substitution C T intron_variant PBCA-DE 17 73051928 73051928 insertion of <=200bp - A intron_variant PBCA-DE 17 73051928 73051928 insertion of <=200bp - A upstream_gene_variant PBCA-DE 17 73053008 73053008 single base substitution A C intron_variant PBCA-DE 17 73053008 73053008 single base substitution A C upstream_gene_variant PBCA-DE 17 73053916 73053916 single base substitution A G intron_variant PBCA-DE 17 73053916 73053916 single base substitution A G upstream_gene_variant PBCA-DE 17 73056807 73056807 single base substitution C G intron_variant PBCA-DE 17 73059330 73059330 single base substitution C T 3_prime_UTR_variant PBCA-DE 17 73059330 73059330 single base substitution C T downstream_gene_variant PBCA-DE 17 73059330 73059330 single base substitution C T exon_variant PRAD-CA 17 73031279 73031279 single base substitution C T intron_variant PRAD-CA 17 73036416 73036416 single base substitution C T exon_variant PRAD-CA 17 73036416 73036416 single base substitution C T intron_variant PRAD-CA 17 73044024 73044024 single base substitution T A intron_variant PRAD-CA 17 73044024 73044024 single base substitution T A upstream_gene_variant PRAD-CA 17 73063122 73063122 single base substitution G T downstream_gene_variant PRAD-UK 17 73060849 73060849 single base substitution G A 3_prime_UTR_variant PRAD-UK 17 73060849 73060849 single base substitution G A downstream_gene_variant PRAD-US 17 73035039 73035039 single base substitution A G intron_variant RECA-EU 17 73044705 73044705 single base substitution C T intron_variant RECA-EU 17 73044705 73044705 single base substitution C T upstream_gene_variant RECA-EU 17 73059855 73059855 single base substitution G A 3_prime_UTR_variant RECA-EU 17 73059855 73059855 single base substitution G A downstream_gene_variant SKCA-BR 17 73026230 73026230 single base substitution G A upstream_gene_variant SKCA-BR 17 73027586 73027586 single base substitution T C upstream_gene_variant SKCA-BR 17 73031196 73031196 single base substitution G A intron_variant SKCA-BR 17 73032886 73032886 single base substitution G C intron_variant SKCA-BR 17 73033460 73033460 single base substitution G A intron_variant SKCA-BR 17 73037542 73037542 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 17 73037542 73037542 insertion of <=200bp - CA intron_variant SKCA-BR 17 73041192 73041192 single base substitution T G downstream_gene_variant SKCA-BR 17 73041192 73041192 single base substitution T G intron_variant SKCA-BR 17 73041192 73041192 single base substitution T G upstream_gene_variant SKCA-BR 17 73043112 73043112 single base substitution G A intron_variant SKCA-BR 17 73043112 73043112 single base substitution G A upstream_gene_variant SKCA-BR 17 73043172 73043172 single base substitution C T intron_variant SKCA-BR 17 73043172 73043172 single base substitution C T upstream_gene_variant SKCA-BR 17 73043173 73043173 single base substitution C T intron_variant SKCA-BR 17 73043173 73043173 single base substitution C T upstream_gene_variant SKCA-BR 17 73043174 73043174 single base substitution C T intron_variant SKCA-BR 17 73043174 73043174 single base substitution C T upstream_gene_variant SKCA-BR 17 73043387 73043387 single base substitution A G exon_variant SKCA-BR 17 73043387 73043387 single base substitution A G intron_variant SKCA-BR 17 73043387 73043387 single base substitution A G synonymous_variant G14G 42A>G SKCA-BR 17 73043387 73043387 single base substitution A G upstream_gene_variant SKCA-BR 17 73047092 73047092 single base substitution G A downstream_gene_variant SKCA-BR 17 73047092 73047092 single base substitution G A intron_variant SKCA-BR 17 73047622 73047622 single base substitution A C downstream_gene_variant SKCA-BR 17 73047622 73047622 single base substitution A C intron_variant SKCA-BR 17 73051910 73051910 single base substitution G A intron_variant SKCA-BR 17 73051910 73051910 single base substitution G A upstream_gene_variant SKCA-BR 17 73052458 73052458 single base substitution C T intron_variant SKCA-BR 17 73052458 73052458 single base substitution C T upstream_gene_variant SKCA-BR 17 73053667 73053669 deletion of <=200bp TTC - intron_variant SKCA-BR 17 73053667 73053669 deletion of <=200bp TTC - upstream_gene_variant SKCA-BR 17 73053669 73053669 single base substitution C T intron_variant SKCA-BR 17 73053669 73053669 single base substitution C T upstream_gene_variant SKCA-BR 17 73054127 73054127 single base substitution C T intron_variant SKCA-BR 17 73054127 73054127 single base substitution C T upstream_gene_variant SKCA-BR 17 73054179 73054179 single base substitution G A intron_variant SKCA-BR 17 73054179 73054179 single base substitution G A upstream_gene_variant SKCA-BR 17 73055035 73055035 single base substitution T A intron_variant SKCA-BR 17 73055035 73055035 single base substitution T A upstream_gene_variant SKCA-BR 17 73055044 73055044 single base substitution T A intron_variant SKCA-BR 17 73055044 73055044 single base substitution T A upstream_gene_variant SKCA-BR 17 73060240 73060240 single base substitution C T 3_prime_UTR_variant SKCA-BR 17 73060240 73060240 single base substitution C T downstream_gene_variant SKCA-BR 17 73060362 73060362 single base substitution C T 3_prime_UTR_variant SKCA-BR 17 73060362 73060362 single base substitution C T downstream_gene_variant SKCA-BR 17 73062530 73062530 single base substitution C T downstream_gene_variant SKCA-BR 17 73064754 73064755 deletion of <=200bp CA - downstream_gene_variant SKCM-US 17 73035062 73035062 single base substitution G A intron_variant SKCM-US 17 73035134 73035134 single base substitution G A intron_variant SKCM-US 17 73059116 73059116 single base substitution C T 3_prime_UTR_variant SKCM-US 17 73059116 73059116 single base substitution C T exon_variant SKCM-US 17 73059116 73059116 single base substitution C T missense_variant L256F 766C>T SKCM-US 17 73059116 73059116 single base substitution C T missense_variant L57F 169C>T SKCM-US 17 73059132 73059132 single base substitution C T 3_prime_UTR_variant SKCM-US 17 73059132 73059132 single base substitution C T exon_variant SKCM-US 17 73059132 73059132 single base substitution C T missense_variant S261L 782C>T SKCM-US 17 73059132 73059132 single base substitution C T missense_variant S62L 185C>T STAD-US 17 73043606 73043606 single base substitution A C exon_variant STAD-US 17 73043606 73043606 single base substitution A C intron_variant STAD-US 17 73043606 73043606 single base substitution A C missense_variant R87S 261A>C STAD-US 17 73043606 73043606 single base substitution A C upstream_gene_variant STAD-US 17 73058330 73058330 deletion of <=200bp A - 3_prime_UTR_variant STAD-US 17 73058330 73058330 deletion of <=200bp A - exon_variant STAD-US 17 73058330 73058330 deletion of <=200bp A - frameshift_variant E251 STAD-US 17 73058330 73058330 deletion of <=200bp A - frameshift_variant E52 STAD-US 17 73059134 73059134 single base substitution C T 3_prime_UTR_variant STAD-US 17 73059134 73059134 single base substitution C T exon_variant STAD-US 17 73059134 73059134 single base substitution C T missense_variant R262W 784C>T STAD-US 17 73059134 73059134 single base substitution C T missense_variant R63W 187C>T THCA-SA 17 73061389 73061389 single base substitution T G 3_prime_UTR_variant THCA-SA 17 73061389 73061389 single base substitution T G downstream_gene_variant THCA-US 17 73055633 73055633 single base substitution T A 3_prime_UTR_variant THCA-US 17 73055633 73055633 single base substitution T A 5_prime_UTR_variant THCA-US 17 73055633 73055633 single base substitution T A exon_variant THCA-US 17 73055633 73055633 single base substitution T A missense_variant L190Q 569T>A UCEC-US 17 73038338 73038338 single base substitution C T downstream_gene_variant UCEC-US 17 73038338 73038338 single base substitution C T intron_variant UCEC-US 17 73038338 73038338 single base substitution C T upstream_gene_variant UCEC-US 17 73049153 73049153 single base substitution C T 3_prime_UTR_variant UCEC-US 17 73049153 73049153 single base substitution C T 5_prime_UTR_variant UCEC-US 17 73049153 73049153 single base substitution C T downstream_gene_variant UCEC-US 17 73049153 73049153 single base substitution C T exon_variant UCEC-US 17 73049153 73049153 single base substitution C T missense_variant R165W 493C>T UCEC-US 17 73058266 73058266 single base substitution T G 3_prime_UTR_variant UCEC-US 17 73058266 73058266 single base substitution T G exon_variant UCEC-US 17 73058266 73058266 single base substitution T G missense_variant F230V 688T>G UCEC-US 17 73058266 73058266 single base substitution T G missense_variant F31V 91T>G UCEC-US 17 73058280 73058280 single base substitution C T 3_prime_UTR_variant UCEC-US 17 73058280 73058280 single base substitution C T exon_variant UCEC-US 17 73058280 73058280 single base substitution C T synonymous_variant V234V 702C>T UCEC-US 17 73058280 73058280 single base substitution C T synonymous_variant V35V 105C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand BD236T COSM5519508 c.671A>G p.N224S Substitution - Missense 17:75062154-75062154 + TCGA-FD-A3N5-01 COSM1303323 c.161C>T p.P54L Substitution - Missense 17:75047411-75047411 + CSCC-55-T COSM4481305 c.249C>T p.F83F Substitution - coding silent 17:75047499-75047499 + CRC-03T COSM5451462 c.736G>A p.V246I Substitution - Missense 17:75062219-75062219 + TCGA-EE-A17X-06 COSM3522027 c.766C>T p.L256F Substitution - Missense 17:75063021-75063021 + LUAD-S01302 COSM395653 c.275G>T p.R92L Substitution - Missense 17:75047525-75047525 + TCGA-FU-A40J-01 COSM4844107 c.442G>A p.E148K Substitution - Missense 17:75049322-75049322 + LUAD-S01357 COSM386848 c.707G>A p.R236K Substitution - Missense 17:75062190-75062190 + 49M COSM5591483 c.546C>T p.P182P Substitution - coding silent 17:75059515-75059515 + TCGA-CZ-5457-01 COSM473347 c.657C>G p.S219S Substitution - coding silent 17:75062140-75062140 + TCGA-C5-A1MJ-01 COSM4842813 c.249C>G p.F83L Substitution - Missense 17:75047499-75047499 + MO_1244 COSM5550826 c.307T>G p.C103G Substitution - Missense 17:75047557-75047557 + TCGA-BR-8372-01 COSM4069479 c.261A>C p.R87S Substitution - Missense 17:75047511-75047511 + T3 COSM5343018 c.387T>C p.G129G Substitution - coding silent 17:75049267-75049267 + I2L-P6-Tumor-Organoid COSM5364322 c.547G>A p.V183M Substitution - Missense 17:75059516-75059516 + HCC47 COSM1610746 c.646A>G p.I216V Substitution - Missense 17:75062129-75062129 + TCGA-G2-A2EO-01 COSM1303324 c.549G>A p.V183V Substitution - coding silent 17:75059518-75059518 + TCGA-06-0195-01 COSM1241335 c.540+1G>A p.? Unknown 17:75053106-75053106 + TCGA-BS-A0UV-01 COSM984252 c.688T>G p.F230V Substitution - Missense 17:75062171-75062171 + I2L-P6-Tumor-Biopsy COSM5364322 c.547G>A p.V183M Substitution - Missense 17:75059516-75059516 + CHC1708T COSM4952298 c.571C>T p.Q191* Substitution - Nonsense 17:75059540-75059540 + BD72T COSM5513359 c.762G>T p.K254N Substitution - Missense 17:75062245-75062245 + TCGA-EL-A4KI-01 COSM3370905 c.569T>A p.L190Q Substitution - Missense 17:75059538-75059538 + TCGA-14-1456 COSM2155633 c.245A>G p.Y82C Substitution - Missense 17:75047495-75047495 + TCGA-CK-5915-01 COSM3691789 c.785G>A p.R262Q Substitution - Missense 17:75063040-75063040 + ESCC_28 COSM5627318 c.196G>C p.G66R Substitution - Missense 17:75047446-75047446 + T3094 COSM4694817 c.593C>T p.T198M Substitution - Missense 17:75059562-75059562 + TCGA-CK-5913-01 COSM1385907 c.349G>T p.G117* Substitution - Nonsense 17:75049229-75049229 + B101 COSM1750294 c.690C>T p.F230F Substitution - coding silent 17:75062173-75062173 + TCGA-B5-A0JY-01 COSM984251 c.493C>T p.R165W Substitution - Missense 17:75053058-75053058 + B101-Tumor COSM1750294 c.690C>T p.F230F Substitution - coding silent 17:75062173-75062173 + 35M COSM3522028 c.782C>T p.S261L Substitution - Missense 17:75063037-75063037 + TCGA-GD-A3OS-01 COSM1303325 c.631G>T p.E211* Substitution - Nonsense 17:75059600-75059600 + TCGA-AX-A05Z-01 COSM984253 c.702C>T p.V234V Substitution - coding silent 17:75062185-75062185 + TCGA-HF-7132-01 COSM4069480 c.784C>T p.R262W Substitution - Missense 17:75063039-75063039 + TCGA-EE-A2GC-06 COSM3522028 c.782C>T p.S261L Substitution - Missense 17:75063037-75063037 + B89-1 COSM1750293 c.225G>A p.R75R Substitution - coding silent 17:75047475-75047475 + CHC1708T COSM4952298 c.571C>T p.Q191* Substitution - Nonsense 17:75059540-75059540 + ESO-0292 COSM1241335 c.540+1G>A p.? Unknown 17:75053106-75053106 + HCC47T COSM1610746 c.646A>G p.I216V Substitution - Missense 17:75062129-75062129 + TCGA-14-1456-01 COSM2155633 c.245A>G p.Y82C Substitution - Missense 17:75047495-75047495 + pfg125T COSM4757377 c.510G>T p.R170S Substitution - Missense 17:75053075-75053075 + T3225 COSM4694818 c.750C>T p.S250S Substitution - coding silent 17:75062233-75062233 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.514468 17q25.1 613422

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.Y82C c.245A>G 17 73043590 GBM A T Missense p.E154V c.461A>T 17 73049121 HNSC C G Synonymous p.S219S c.657C>G 17 73058235 RCCC C T 3-UTRSNV . c.789+191C>T 17 73059330 MB C T Missense p.L256F c.766C>T 17 73059116 CM C T Missense p.P54L c.161C>T 17 73043506 BLCA C T Missense p.R136C c.406C>T 17 73045381 LUAD C T Missense p.S261L c.782C>T 17 73059132 CM C T Missense p.S261L c.782C>T 17 73059132 HNSC G A Missense p.R100H c.299G>A 17 73043644 LUAD G A SpliceDonorSNV . c.540+1G>A 17 73049201 GBM G A Synonymous p.V183V c.549G>A 17 73055613 BLCA G T Nonsense p.E211* c.631G>T 17 73055695 BLCA T G Synonymous p.V167V c.501T>G 17 73049161 CM