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 4200037 4200037 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr17:4200037G>A c.222C>T c.(220-222)ttC>ttT p.F74F COAD 17 4186189 4186189 + Nonsense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:4186189C>A c.454G>T c.(454-456)Gaa>Taa p.E152* COAD 17 4192643 4192643 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr17:4192643C>T c.308G>A c.(307-309)gGt>gAt p.G103D COAD 17 4200087 4200087 + Missense_Mutation SNP G G A TCGA-AA-A004-01A-01W-A00E-09 TCGA-AA-A004-10A-01W-A00E-09 g.chr17:4200087G>A c.172C>T c.(172-174)Cat>Tat p.H58Y COADREAD 17 4186189 4186189 + Nonsense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:4186189C>A c.454G>T c.(454-456)Gaa>Taa p.E152* COADREAD 17 4192643 4192643 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr17:4192643C>T c.308G>A c.(307-309)gGt>gAt p.G103D COADREAD 17 4200087 4200087 + Missense_Mutation SNP G G A TCGA-AA-A004-01A-01W-A00E-09 TCGA-AA-A004-10A-01W-A00E-09 g.chr17:4200087G>A c.172C>T c.(172-174)Cat>Tat p.H58Y LUAD 17 4186205 4186205 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr17:4186205C>T c.438G>A c.(436-438)agG>agA p.R146R LUSC 17 4192629 4192629 + Nonsense_Mutation SNP C C A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 g.chr17:4192629C>A c.322G>T c.(322-324)Gag>Tag p.E108* SKCM 17 4192609 4192609 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr17:4192609G>A c.342C>T c.(340-342)atC>atT p.I114I

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 17 4200037 4200037 single base substitution G A intron_variant BLCA-US 17 4200037 4200037 single base substitution G A synonymous_variant F3F 9C>T BLCA-US 17 4200037 4200037 single base substitution G A synonymous_variant F74F 222C>T BRCA-EU 17 4167640 4167640 single base substitution C T downstream_gene_variant BRCA-EU 17 4170115 4170115 single base substitution C T downstream_gene_variant BRCA-EU 17 4170171 4170171 single base substitution G C downstream_gene_variant BRCA-EU 17 4171833 4171833 single base substitution C G downstream_gene_variant BRCA-EU 17 4172146 4172146 single base substitution G A downstream_gene_variant BRCA-EU 17 4173041 4173041 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 4173041 4173041 single base substitution C T downstream_gene_variant BRCA-EU 17 4175436 4175436 single base substitution G C 3_prime_UTR_variant BRCA-EU 17 4175436 4175436 single base substitution G C downstream_gene_variant BRCA-EU 17 4175860 4175860 single base substitution G C intron_variant BRCA-EU 17 4176810 4176810 deletion of <=200bp T - intron_variant BRCA-EU 17 4177096 4177097 deletion of <=200bp AG - intron_variant BRCA-EU 17 4177867 4177867 single base substitution G C intron_variant BRCA-EU 17 4178540 4178540 single base substitution G C intron_variant BRCA-EU 17 4188434 4188434 single base substitution C G intron_variant BRCA-EU 17 4188704 4188704 single base substitution C T intron_variant BRCA-EU 17 4188822 4188822 single base substitution G A intron_variant BRCA-EU 17 4189321 4189321 single base substitution G A intron_variant BRCA-EU 17 4191313 4191313 single base substitution G T intron_variant BRCA-EU 17 4193154 4193154 single base substitution G A intron_variant BRCA-EU 17 4194170 4194170 single base substitution G A intron_variant BRCA-EU 17 4195597 4195597 single base substitution G C downstream_gene_variant BRCA-EU 17 4195597 4195597 single base substitution G C intron_variant BRCA-EU 17 4199932 4199932 single base substitution G C downstream_gene_variant BRCA-EU 17 4199932 4199932 single base substitution G C intron_variant BRCA-EU 17 4200618 4200618 single base substitution C T intron_variant BRCA-EU 17 4202021 4202021 single base substitution G C intron_variant BRCA-EU 17 4205212 4205212 single base substitution C T intron_variant BRCA-EU 17 4205335 4205335 deletion of <=200bp C - intron_variant BRCA-EU 17 4205595 4205595 single base substitution G A intron_variant BRCA-EU 17 4205658 4205658 single base substitution C T intron_variant BRCA-EU 17 4206779 4206779 single base substitution G C intron_variant BRCA-EU 17 4207466 4207466 deletion of <=200bp T - intron_variant BRCA-EU 17 4207844 4207844 insertion of <=200bp - A intron_variant BRCA-EU 17 4210323 4210323 insertion of <=200bp - T 5_prime_UTR_variant BRCA-EU 17 4210323 4210323 insertion of <=200bp - T exon_variant BRCA-EU 17 4210323 4210323 insertion of <=200bp - T frameshift_variant T48N? BRCA-EU 17 4210810 4210810 single base substitution G C intron_variant BRCA-EU 17 4211130 4211130 single base substitution G A intron_variant BRCA-EU 17 4211952 4211952 single base substitution G A intron_variant BRCA-EU 17 4212206 4212206 single base substitution C T intron_variant BRCA-EU 17 4215292 4215292 single base substitution G A intron_variant BRCA-EU 17 4215541 4215541 deletion of <=200bp A - intron_variant BRCA-EU 17 4215811 4215811 single base substitution G A intron_variant BRCA-EU 17 4215922 4215922 single base substitution C T intron_variant BRCA-EU 17 4218407 4218407 single base substitution T C intron_variant BRCA-EU 17 4218475 4218475 single base substitution C T intron_variant BRCA-EU 17 4219818 4219818 single base substitution G A intron_variant BRCA-EU 17 4220111 4220111 single base substitution C T intron_variant BRCA-EU 17 4220643 4220643 single base substitution C T intron_variant BRCA-EU 17 4220645 4220645 single base substitution C A intron_variant BRCA-EU 17 4221320 4221320 single base substitution G A intron_variant BRCA-EU 17 4221372 4221372 single base substitution G C intron_variant BRCA-EU 17 4221379 4221379 single base substitution A G intron_variant BRCA-EU 17 4222192 4222192 single base substitution A G intron_variant BRCA-EU 17 4222405 4222405 single base substitution A G intron_variant BRCA-EU 17 4224725 4224725 deletion of <=200bp T - intron_variant BRCA-EU 17 4224952 4224952 insertion of <=200bp - T intron_variant BRCA-EU 17 4227060 4227060 single base substitution C T intron_variant BRCA-EU 17 4227367 4227367 single base substitution C T intron_variant BRCA-EU 17 4227400 4227400 single base substitution G A intron_variant BRCA-EU 17 4227453 4227453 single base substitution G C intron_variant BRCA-EU 17 4229769 4229769 single base substitution C T intron_variant BRCA-EU 17 4230578 4230578 single base substitution C G intron_variant BRCA-EU 17 4231510 4231510 single base substitution G A intron_variant BRCA-EU 17 4231526 4231526 single base substitution A G intron_variant BRCA-EU 17 4231564 4231564 single base substitution C T intron_variant BRCA-EU 17 4232031 4232031 single base substitution A C intron_variant BRCA-EU 17 4233933 4233933 single base substitution G A intron_variant BRCA-EU 17 4234511 4234511 single base substitution T C intron_variant BRCA-EU 17 4235190 4235190 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 17 4235190 4235190 single base substitution T C intron_variant BRCA-EU 17 4235190 4235190 single base substitution T C splice_region_variant BRCA-EU 17 4235581 4235581 single base substitution A T intron_variant BRCA-EU 17 4235581 4235581 single base substitution A T upstream_gene_variant BRCA-EU 17 4237941 4237941 single base substitution T G intron_variant BRCA-EU 17 4237941 4237941 single base substitution T G upstream_gene_variant BRCA-EU 17 4238169 4238169 single base substitution G C intron_variant BRCA-EU 17 4238169 4238169 single base substitution G C upstream_gene_variant BRCA-EU 17 4238630 4238630 deletion of <=200bp A - intron_variant BRCA-EU 17 4238630 4238630 deletion of <=200bp A - upstream_gene_variant BRCA-EU 17 4239073 4239073 single base substitution C T intron_variant BRCA-EU 17 4239073 4239073 single base substitution C T upstream_gene_variant BRCA-EU 17 4239378 4239378 single base substitution T A intron_variant BRCA-EU 17 4239378 4239378 single base substitution T A upstream_gene_variant BRCA-EU 17 4239962 4239962 single base substitution C T intron_variant BRCA-EU 17 4239962 4239962 single base substitution C T upstream_gene_variant BRCA-EU 17 4241757 4241757 single base substitution A G intron_variant BRCA-EU 17 4241793 4241793 single base substitution C G intron_variant BRCA-EU 17 4242001 4242001 single base substitution C T intron_variant BRCA-EU 17 4242374 4242374 single base substitution A T intron_variant BRCA-EU 17 4243247 4243247 single base substitution C T intron_variant BRCA-EU 17 4244212 4244212 single base substitution A G intron_variant BRCA-EU 17 4244742 4244742 single base substitution C T intron_variant BRCA-EU 17 4247029 4247029 single base substitution G A intron_variant BRCA-EU 17 4247081 4247081 single base substitution C T intron_variant BRCA-EU 17 4247206 4247206 single base substitution G A intron_variant BRCA-EU 17 4247750 4247750 single base substitution T G intron_variant BRCA-EU 17 4248618 4248618 single base substitution C G intron_variant BRCA-EU 17 4249095 4249095 single base substitution C T intron_variant BRCA-EU 17 4249095 4249095 single base substitution C T upstream_gene_variant BRCA-EU 17 4253095 4253095 single base substitution G A intron_variant BRCA-EU 17 4253095 4253095 single base substitution G A upstream_gene_variant BRCA-EU 17 4253256 4253256 single base substitution C T intron_variant BRCA-EU 17 4253256 4253256 single base substitution C T upstream_gene_variant BRCA-EU 17 4253327 4253327 single base substitution C T intron_variant BRCA-EU 17 4253327 4253327 single base substitution C T upstream_gene_variant BRCA-EU 17 4255675 4255675 single base substitution C T intron_variant BRCA-EU 17 4258235 4258235 single base substitution G A intron_variant BRCA-EU 17 4261959 4261959 single base substitution A G intron_variant BRCA-EU 17 4261982 4261982 insertion of <=200bp - CACGC intron_variant BRCA-EU 17 4264703 4264703 single base substitution G A intron_variant BRCA-EU 17 4266696 4266696 single base substitution A C intron_variant BRCA-EU 17 4266880 4266884 deletion of <=200bp TTATC - intron_variant BRCA-EU 17 4267865 4267865 single base substitution G C intron_variant BRCA-EU 17 4269076 4269076 single base substitution G A intron_variant BRCA-EU 17 4270383 4270383 single base substitution G A upstream_gene_variant BRCA-EU 17 4271086 4271086 single base substitution G C upstream_gene_variant BRCA-EU 17 4271319 4271319 single base substitution C A upstream_gene_variant BRCA-EU 17 4271768 4271768 single base substitution G T upstream_gene_variant BRCA-EU 17 4271943 4271943 single base substitution C G upstream_gene_variant BRCA-EU 17 4272789 4272789 single base substitution G T upstream_gene_variant BRCA-EU 17 4273695 4273695 single base substitution G A upstream_gene_variant BRCA-EU 17 4273882 4273882 single base substitution G A upstream_gene_variant BRCA-EU 17 4273984 4273984 single base substitution G C upstream_gene_variant BRCA-EU 17 4274403 4274403 single base substitution G C upstream_gene_variant BRCA-FR 17 4167640 4167640 single base substitution C T downstream_gene_variant BRCA-FR 17 4168207 4168207 single base substitution A T downstream_gene_variant BRCA-FR 17 4175436 4175436 single base substitution G C 3_prime_UTR_variant BRCA-FR 17 4175436 4175436 single base substitution G C downstream_gene_variant BRCA-FR 17 4177867 4177867 single base substitution G C intron_variant BRCA-FR 17 4178540 4178540 single base substitution G C intron_variant BRCA-FR 17 4188822 4188822 single base substitution G A intron_variant BRCA-FR 17 4192671 4192671 single base substitution G A 3_prime_UTR_variant BRCA-FR 17 4192671 4192671 single base substitution G A intron_variant BRCA-FR 17 4192671 4192671 single base substitution G A missense_variant L23F 67C>T BRCA-FR 17 4192671 4192671 single base substitution G A missense_variant L94F 280C>T BRCA-FR 17 4193154 4193154 single base substitution G A intron_variant BRCA-FR 17 4195597 4195597 single base substitution G A downstream_gene_variant BRCA-FR 17 4195597 4195597 single base substitution G A intron_variant BRCA-FR 17 4195621 4195621 single base substitution A C downstream_gene_variant BRCA-FR 17 4195621 4195621 single base substitution A C intron_variant BRCA-FR 17 4200618 4200618 single base substitution C T intron_variant BRCA-FR 17 4206779 4206779 single base substitution G C intron_variant BRCA-FR 17 4210810 4210810 single base substitution G C intron_variant BRCA-FR 17 4211130 4211130 single base substitution G A intron_variant BRCA-FR 17 4221372 4221372 single base substitution G C intron_variant BRCA-FR 17 4233933 4233933 single base substitution G A intron_variant BRCA-FR 17 4241513 4241513 single base substitution G A intron_variant BRCA-FR 17 4241793 4241793 single base substitution C G intron_variant BRCA-FR 17 4243247 4243247 single base substitution C T intron_variant BRCA-FR 17 4244742 4244742 single base substitution C T intron_variant BRCA-FR 17 4247081 4247081 single base substitution C T intron_variant BRCA-FR 17 4247206 4247206 single base substitution G A intron_variant BRCA-FR 17 4248618 4248618 single base substitution C G intron_variant BRCA-FR 17 4253256 4253256 single base substitution C T intron_variant BRCA-FR 17 4253256 4253256 single base substitution C T upstream_gene_variant BRCA-FR 17 4253327 4253327 single base substitution C T intron_variant BRCA-FR 17 4253327 4253327 single base substitution C T upstream_gene_variant BRCA-FR 17 4257311 4257311 single base substitution C A intron_variant BRCA-FR 17 4266696 4266696 single base substitution A C intron_variant BRCA-FR 17 4269076 4269076 single base substitution G A intron_variant BRCA-FR 17 4270383 4270383 single base substitution G A upstream_gene_variant BRCA-FR 17 4271086 4271086 single base substitution G C upstream_gene_variant BRCA-FR 17 4271768 4271768 single base substitution G T upstream_gene_variant BRCA-FR 17 4273155 4273155 single base substitution C G upstream_gene_variant BRCA-FR 17 4273882 4273882 single base substitution G A upstream_gene_variant BRCA-FR 17 4273984 4273984 single base substitution G C upstream_gene_variant BRCA-FR 17 4274403 4274403 single base substitution G C upstream_gene_variant BRCA-UK 17 4239378 4239378 single base substitution T A intron_variant BRCA-UK 17 4239378 4239378 single base substitution T A upstream_gene_variant BRCA-UK 17 4246261 4246261 single base substitution C T intron_variant BRCA-UK 17 4251668 4251668 single base substitution G A intron_variant BRCA-UK 17 4251668 4251668 single base substitution G A upstream_gene_variant BRCA-UK 17 4267148 4267148 single base substitution C G intron_variant BTCA-JP 17 4200065 4200065 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 17 4200065 4200065 single base substitution T C intron_variant BTCA-JP 17 4200065 4200065 single base substitution T C missense_variant Y65C 194A>G CLLE-ES 17 4178600 4178600 single base substitution T C intron_variant CLLE-ES 17 4221147 4221147 single base substitution T C intron_variant CLLE-ES 17 4222762 4222762 single base substitution G A intron_variant CLLE-ES 17 4229759 4229759 single base substitution G A intron_variant CLLE-ES 17 4241510 4241510 single base substitution A G intron_variant CLLE-ES 17 4242064 4242064 single base substitution G T intron_variant CLLE-ES 17 4254795 4254795 single base substitution G A intron_variant CLLE-ES 17 4263306 4263306 single base substitution T C intron_variant CLLE-ES 17 4273471 4273471 single base substitution G A upstream_gene_variant COAD-US 17 4192643 4192643 single base substitution C T 3_prime_UTR_variant COAD-US 17 4192643 4192643 single base substitution C T intron_variant COAD-US 17 4192643 4192643 single base substitution C T missense_variant G103D 308G>A COAD-US 17 4192643 4192643 single base substitution C T missense_variant G32D 95G>A COCA-CN 17 4200020 4200020 single base substitution T C downstream_gene_variant COCA-CN 17 4200020 4200020 single base substitution T C intron_variant COCA-CN 17 4200020 4200020 single base substitution T C missense_variant H80R 239A>G COCA-CN 17 4200020 4200020 single base substitution T C missense_variant H9R 26A>G COCA-CN 17 4205343 4205343 single base substitution G A intron_variant COCA-CN 17 4205351 4205351 single base substitution A G intron_variant COCA-CN 17 4210186 4210186 single base substitution C T intron_variant EOPC-DE 17 4169225 4169225 single base substitution G A downstream_gene_variant EOPC-DE 17 4259449 4259449 single base substitution G A intron_variant EOPC-DE 17 4266569 4266569 single base substitution A T intron_variant ESAD-UK 17 4170518 4170518 single base substitution C T downstream_gene_variant ESAD-UK 17 4171633 4171633 single base substitution T C downstream_gene_variant ESAD-UK 17 4173292 4173292 single base substitution G T 3_prime_UTR_variant ESAD-UK 17 4173292 4173292 single base substitution G T downstream_gene_variant ESAD-UK 17 4175659 4175663 deletion of <=200bp AGTTG - 3_prime_UTR_variant ESAD-UK 17 4177975 4177975 single base substitution A G intron_variant ESAD-UK 17 4181173 4181173 single base substitution G A intron_variant ESAD-UK 17 4182981 4182981 single base substitution A C downstream_gene_variant ESAD-UK 17 4182981 4182981 single base substitution A C intron_variant ESAD-UK 17 4183375 4183375 single base substitution G C downstream_gene_variant ESAD-UK 17 4183375 4183375 single base substitution G C intron_variant ESAD-UK 17 4185356 4185356 single base substitution G A downstream_gene_variant ESAD-UK 17 4185356 4185356 single base substitution G A intron_variant ESAD-UK 17 4192023 4192023 single base substitution G A intron_variant ESAD-UK 17 4197302 4197302 deletion of <=200bp T - downstream_gene_variant ESAD-UK 17 4197302 4197302 deletion of <=200bp T - intron_variant ESAD-UK 17 4198487 4198487 single base substitution G T downstream_gene_variant ESAD-UK 17 4198487 4198487 single base substitution G T intron_variant ESAD-UK 17 4199873 4199873 single base substitution A G downstream_gene_variant ESAD-UK 17 4199873 4199873 single base substitution A G intron_variant ESAD-UK 17 4202346 4202346 single base substitution A G intron_variant ESAD-UK 17 4202563 4202563 single base substitution G A intron_variant ESAD-UK 17 4211429 4211429 single base substitution A G intron_variant ESAD-UK 17 4213663 4213665 deletion of <=200bp AAG - intron_variant ESAD-UK 17 4216837 4216837 single base substitution G A intron_variant ESAD-UK 17 4218295 4218295 single base substitution A C intron_variant ESAD-UK 17 4219035 4219035 insertion of <=200bp - A intron_variant ESAD-UK 17 4219275 4219275 insertion of <=200bp - TA intron_variant ESAD-UK 17 4225111 4225111 single base substitution G A intron_variant ESAD-UK 17 4227019 4227019 insertion of <=200bp - T intron_variant ESAD-UK 17 4228412 4228412 single base substitution A C intron_variant ESAD-UK 17 4230000 4230000 single base substitution G A intron_variant ESAD-UK 17 4231270 4231270 single base substitution C G intron_variant ESAD-UK 17 4239334 4239334 single base substitution G A intron_variant ESAD-UK 17 4239334 4239334 single base substitution G A upstream_gene_variant ESAD-UK 17 4241515 4241515 deletion of <=200bp A - intron_variant ESAD-UK 17 4243868 4243868 single base substitution G T intron_variant ESAD-UK 17 4244014 4244014 single base substitution G A intron_variant ESAD-UK 17 4245809 4245809 single base substitution C T intron_variant ESAD-UK 17 4249141 4249141 single base substitution G A intron_variant ESAD-UK 17 4249141 4249141 single base substitution G A upstream_gene_variant ESAD-UK 17 4251051 4251051 single base substitution G A intron_variant ESAD-UK 17 4251051 4251051 single base substitution G A upstream_gene_variant ESAD-UK 17 4255087 4255087 single base substitution G A intron_variant ESAD-UK 17 4259156 4259156 single base substitution C A intron_variant ESAD-UK 17 4260939 4260939 single base substitution C T intron_variant ESAD-UK 17 4261243 4261243 single base substitution A T intron_variant ESAD-UK 17 4261441 4261441 single base substitution T A intron_variant ESAD-UK 17 4261997 4261997 single base substitution A C intron_variant ESAD-UK 17 4262153 4262153 single base substitution G A intron_variant ESAD-UK 17 4263767 4263767 single base substitution G A intron_variant ESAD-UK 17 4264755 4264755 single base substitution G A intron_variant ESAD-UK 17 4264962 4264962 single base substitution G A intron_variant ESAD-UK 17 4266373 4266373 single base substitution G A intron_variant ESAD-UK 17 4269003 4269019 deletion of <=200bp CCCGCGTGGAGGCCGCC - intron_variant ESAD-UK 17 4269895 4269895 single base substitution C G 5_prime_UTR_variant ESAD-UK 17 4269895 4269895 single base substitution C G upstream_gene_variant ESAD-UK 17 4269990 4269990 single base substitution C G upstream_gene_variant ESAD-UK 17 4273334 4273334 single base substitution C T upstream_gene_variant ESAD-UK 17 4274826 4274826 single base substitution G A upstream_gene_variant ESCA-CN 17 4192676 4192676 single base substitution G C 3_prime_UTR_variant ESCA-CN 17 4192676 4192676 single base substitution G C intron_variant ESCA-CN 17 4192676 4192676 single base substitution G C missense_variant S21C 62C>G ESCA-CN 17 4192676 4192676 single base substitution G C missense_variant S92C 275C>G ESCA-CN 17 4205445 4205445 single base substitution T C intron_variant LAML-KR 17 4203612 4203612 single base substitution C T intron_variant LAML-KR 17 4203613 4203613 single base substitution G A intron_variant LAML-KR 17 4267862 4267862 single base substitution T C intron_variant LICA-FR 17 4173798 4173798 single base substitution C G 3_prime_UTR_variant LICA-FR 17 4173798 4173798 single base substitution C G downstream_gene_variant LICA-FR 17 4173845 4173845 insertion of <=200bp - A 3_prime_UTR_variant LICA-FR 17 4173845 4173845 insertion of <=200bp - A downstream_gene_variant LICA-FR 17 4192694 4192694 single base substitution T C 3_prime_UTR_variant LICA-FR 17 4192694 4192694 single base substitution T C intron_variant LICA-FR 17 4192694 4192694 single base substitution T C missense_variant N15S 44A>G LICA-FR 17 4192694 4192694 single base substitution T C missense_variant N86S 257A>G LICA-FR 17 4230319 4230319 single base substitution G C intron_variant LICA-FR 17 4234272 4234272 insertion of <=200bp - CACACACACA intron_variant LICA-FR 17 4250630 4250630 single base substitution T C intron_variant LICA-FR 17 4250630 4250630 single base substitution T C upstream_gene_variant LICA-FR 17 4259941 4259941 single base substitution T C intron_variant LICA-FR 17 4263161 4263161 single base substitution A C intron_variant LICA-FR 17 4271864 4271864 insertion of <=200bp - TCTCCC upstream_gene_variant LICA-FR 17 4272401 4272401 single base substitution G A upstream_gene_variant LICA-FR 17 4274887 4274887 single base substitution A G upstream_gene_variant LINC-JP 17 4192425 4192425 single base substitution C T intron_variant LINC-JP 17 4193955 4193955 single base substitution G T intron_variant LINC-JP 17 4193956 4193956 single base substitution G T intron_variant LINC-JP 17 4210372 4210372 single base substitution A T 5_prime_UTR_variant LINC-JP 17 4210372 4210372 single base substitution A T exon_variant LINC-JP 17 4210372 4210372 single base substitution A T missense_variant D31E 93T>A LINC-JP 17 4218742 4218742 single base substitution T C intron_variant LINC-JP 17 4242770 4242770 single base substitution T C intron_variant LIRI-JP 17 4175636 4175636 single base substitution T C 3_prime_UTR_variant LIRI-JP 17 4176766 4176766 single base substitution G A intron_variant LIRI-JP 17 4180638 4180638 single base substitution G A intron_variant LIRI-JP 17 4181556 4181556 single base substitution C T downstream_gene_variant LIRI-JP 17 4181556 4181556 single base substitution C T intron_variant LIRI-JP 17 4182877 4182877 single base substitution A C downstream_gene_variant LIRI-JP 17 4182877 4182877 single base substitution A C intron_variant LIRI-JP 17 4183001 4183001 single base substitution C T downstream_gene_variant LIRI-JP 17 4183001 4183001 single base substitution C T intron_variant LIRI-JP 17 4185545 4185545 single base substitution T C downstream_gene_variant LIRI-JP 17 4185545 4185545 single base substitution T C intron_variant LIRI-JP 17 4188711 4188711 single base substitution T C intron_variant LIRI-JP 17 4191419 4191419 single base substitution A G intron_variant LIRI-JP 17 4191517 4191517 single base substitution T C intron_variant LIRI-JP 17 4191678 4191678 single base substitution C A intron_variant LIRI-JP 17 4192641 4192641 single base substitution A G 3_prime_UTR_variant LIRI-JP 17 4192641 4192641 single base substitution A G intron_variant LIRI-JP 17 4192641 4192641 single base substitution A G missense_variant Y104H 310T>C LIRI-JP 17 4192641 4192641 single base substitution A G missense_variant Y33H 97T>C LIRI-JP 17 4194975 4194975 single base substitution T C intron_variant LIRI-JP 17 4195684 4195684 single base substitution T C downstream_gene_variant LIRI-JP 17 4195684 4195684 single base substitution T C intron_variant LIRI-JP 17 4197362 4197362 single base substitution A C downstream_gene_variant LIRI-JP 17 4197362 4197362 single base substitution A C intron_variant LIRI-JP 17 4201182 4201182 single base substitution G C intron_variant LIRI-JP 17 4201328 4201328 single base substitution C A intron_variant LIRI-JP 17 4202491 4202491 single base substitution C T intron_variant LIRI-JP 17 4204232 4204232 deletion of <=200bp C - intron_variant LIRI-JP 17 4204837 4204837 single base substitution T C intron_variant LIRI-JP 17 4206497 4206497 single base substitution A G intron_variant LIRI-JP 17 4207012 4207012 single base substitution T C intron_variant LIRI-JP 17 4213708 4213708 single base substitution A T intron_variant LIRI-JP 17 4216391 4216391 single base substitution T C intron_variant LIRI-JP 17 4216838 4216838 single base substitution T C intron_variant LIRI-JP 17 4222421 4222421 single base substitution T C intron_variant LIRI-JP 17 4222485 4222485 single base substitution A G intron_variant LIRI-JP 17 4223656 4223656 single base substitution T C intron_variant LIRI-JP 17 4225540 4225540 single base substitution A T intron_variant LIRI-JP 17 4228205 4228205 single base substitution T C intron_variant LIRI-JP 17 4228751 4228751 single base substitution A G intron_variant LIRI-JP 17 4230581 4230581 single base substitution G C intron_variant LIRI-JP 17 4236199 4236199 single base substitution T C intron_variant LIRI-JP 17 4236199 4236199 single base substitution T C upstream_gene_variant LIRI-JP 17 4243659 4243659 single base substitution T C intron_variant LIRI-JP 17 4245982 4245982 single base substitution A G intron_variant LIRI-JP 17 4250176 4250176 single base substitution G A intron_variant LIRI-JP 17 4250176 4250176 single base substitution G A upstream_gene_variant LIRI-JP 17 4250255 4250255 single base substitution C T intron_variant LIRI-JP 17 4250255 4250255 single base substitution C T upstream_gene_variant LIRI-JP 17 4259641 4259641 single base substitution G A intron_variant LIRI-JP 17 4260003 4260003 single base substitution A G intron_variant LIRI-JP 17 4260027 4260027 single base substitution C T intron_variant LIRI-JP 17 4264992 4264992 single base substitution C T intron_variant LIRI-JP 17 4270563 4270563 single base substitution T G upstream_gene_variant LIRI-JP 17 4273245 4273245 single base substitution C T upstream_gene_variant LIRI-JP 17 4274568 4274568 single base substitution C T upstream_gene_variant LUSC-KR 17 4171685 4171685 single base substitution G A downstream_gene_variant LUSC-KR 17 4177532 4177532 single base substitution G A intron_variant LUSC-KR 17 4177553 4177553 single base substitution C T intron_variant LUSC-KR 17 4179706 4179706 single base substitution C A intron_variant LUSC-KR 17 4187261 4187261 single base substitution G T intron_variant LUSC-KR 17 4188876 4188876 single base substitution G C intron_variant LUSC-KR 17 4189062 4189062 single base substitution T A intron_variant LUSC-KR 17 4189484 4189484 single base substitution G C intron_variant LUSC-KR 17 4189923 4189923 single base substitution G C intron_variant LUSC-KR 17 4212881 4212881 single base substitution C A intron_variant LUSC-KR 17 4215109 4215109 single base substitution C A intron_variant LUSC-KR 17 4231647 4231647 single base substitution C A intron_variant LUSC-KR 17 4235386 4235386 single base substitution T C intron_variant LUSC-KR 17 4235386 4235386 single base substitution T C upstream_gene_variant LUSC-KR 17 4265042 4265042 single base substitution T A intron_variant LUSC-US 17 4192629 4192629 single base substitution C A 3_prime_UTR_variant LUSC-US 17 4192629 4192629 single base substitution C A intron_variant LUSC-US 17 4192629 4192629 single base substitution C A stop_gained E108* 322G>T LUSC-US 17 4192629 4192629 single base substitution C A stop_gained E37* 109G>T MALY-DE 17 4171482 4171482 single base substitution G C downstream_gene_variant MALY-DE 17 4177090 4177090 single base substitution G T intron_variant MALY-DE 17 4181812 4181812 single base substitution T A downstream_gene_variant MALY-DE 17 4181812 4181812 single base substitution T A intron_variant MALY-DE 17 4181854 4181854 single base substitution T A downstream_gene_variant MALY-DE 17 4181854 4181854 single base substitution T A intron_variant MALY-DE 17 4181946 4181946 single base substitution T C downstream_gene_variant MALY-DE 17 4181946 4181946 single base substitution T C intron_variant MALY-DE 17 4181964 4181964 single base substitution G A downstream_gene_variant MALY-DE 17 4181964 4181964 single base substitution G A intron_variant MALY-DE 17 4185072 4185072 single base substitution G C downstream_gene_variant MALY-DE 17 4185072 4185072 single base substitution G C intron_variant MALY-DE 17 4186025 4186025 single base substitution A G downstream_gene_variant MALY-DE 17 4186025 4186025 single base substitution A G intron_variant MALY-DE 17 4190004 4190004 single base substitution A C intron_variant MALY-DE 17 4202041 4202041 single base substitution T G intron_variant MALY-DE 17 4202502 4202502 single base substitution A T intron_variant MALY-DE 17 4215034 4215034 single base substitution A G intron_variant MALY-DE 17 4219389 4219389 single base substitution C T intron_variant MALY-DE 17 4228251 4228251 single base substitution A G intron_variant MALY-DE 17 4229549 4229549 single base substitution A C intron_variant MALY-DE 17 4236334 4236334 single base substitution A C intron_variant MALY-DE 17 4236334 4236334 single base substitution A C upstream_gene_variant MALY-DE 17 4254292 4254292 single base substitution C A intron_variant MALY-DE 17 4255787 4255787 single base substitution C T intron_variant MALY-DE 17 4269008 4269008 single base substitution G A intron_variant MALY-DE 17 4269386 4269386 single base substitution C T intron_variant MALY-DE 17 4269397 4269397 single base substitution C T intron_variant MALY-DE 17 4270055 4270055 single base substitution G T upstream_gene_variant MALY-DE 17 4273826 4273826 single base substitution T A upstream_gene_variant MELA-AU 17 4168106 4168106 single base substitution C T downstream_gene_variant MELA-AU 17 4169220 4169220 single base substitution G A downstream_gene_variant MELA-AU 17 4169939 4169939 single base substitution G A downstream_gene_variant MELA-AU 17 4170955 4170955 single base substitution G A downstream_gene_variant MELA-AU 17 4171141 4171141 single base substitution G A downstream_gene_variant MELA-AU 17 4175335 4175335 single base substitution A G 3_prime_UTR_variant MELA-AU 17 4175335 4175335 single base substitution A G downstream_gene_variant MELA-AU 17 4177033 4177033 single base substitution G A intron_variant MELA-AU 17 4177344 4177344 single base substitution C T intron_variant MELA-AU 17 4177463 4177463 single base substitution G A intron_variant MELA-AU 17 4178108 4178108 single base substitution G A intron_variant MELA-AU 17 4179139 4179139 single base substitution C G intron_variant MELA-AU 17 4179469 4179469 single base substitution C T intron_variant MELA-AU 17 4180664 4180664 single base substitution G A intron_variant MELA-AU 17 4180710 4180712 multiple base substitution (>=2bp and <=200bp) GGA ACG intron_variant MELA-AU 17 4180711 4180711 single base substitution G A intron_variant MELA-AU 17 4181193 4181193 single base substitution G A intron_variant MELA-AU 17 4181724 4181724 single base substitution A G downstream_gene_variant MELA-AU 17 4181724 4181724 single base substitution A G intron_variant MELA-AU 17 4182156 4182156 single base substitution G A downstream_gene_variant MELA-AU 17 4182156 4182156 single base substitution G A intron_variant MELA-AU 17 4182963 4182963 single base substitution G A downstream_gene_variant MELA-AU 17 4182963 4182963 single base substitution G A intron_variant MELA-AU 17 4183185 4183185 single base substitution C G downstream_gene_variant MELA-AU 17 4183185 4183185 single base substitution C G intron_variant MELA-AU 17 4183846 4183846 single base substitution A T downstream_gene_variant MELA-AU 17 4183846 4183846 single base substitution A T intron_variant MELA-AU 17 4183932 4183932 single base substitution G A downstream_gene_variant MELA-AU 17 4183932 4183932 single base substitution G A intron_variant MELA-AU 17 4185123 4185123 single base substitution C T downstream_gene_variant MELA-AU 17 4185123 4185123 single base substitution C T intron_variant MELA-AU 17 4185364 4185364 single base substitution A G downstream_gene_variant MELA-AU 17 4185364 4185364 single base substitution A G intron_variant MELA-AU 17 4185508 4185508 single base substitution G A downstream_gene_variant MELA-AU 17 4185508 4185508 single base substitution G A intron_variant MELA-AU 17 4186629 4186629 single base substitution G A intron_variant MELA-AU 17 4187077 4187077 single base substitution G A intron_variant MELA-AU 17 4188158 4188158 single base substitution G A intron_variant MELA-AU 17 4189149 4189149 single base substitution G A intron_variant MELA-AU 17 4189722 4189722 single base substitution G A intron_variant MELA-AU 17 4189743 4189743 single base substitution G A intron_variant MELA-AU 17 4190321 4190321 single base substitution G A intron_variant MELA-AU 17 4190765 4190765 single base substitution C T intron_variant MELA-AU 17 4191138 4191138 single base substitution A C intron_variant MELA-AU 17 4191553 4191553 single base substitution G A intron_variant MELA-AU 17 4193380 4193380 single base substitution A T intron_variant MELA-AU 17 4194778 4194778 single base substitution C T intron_variant MELA-AU 17 4194950 4194950 single base substitution A C intron_variant MELA-AU 17 4195150 4195150 single base substitution G A downstream_gene_variant MELA-AU 17 4195150 4195150 single base substitution G A intron_variant MELA-AU 17 4195242 4195242 single base substitution G A downstream_gene_variant MELA-AU 17 4195242 4195242 single base substitution G A intron_variant MELA-AU 17 4197638 4197638 single base substitution G A downstream_gene_variant MELA-AU 17 4197638 4197638 single base substitution G A intron_variant MELA-AU 17 4197818 4197818 single base substitution C T downstream_gene_variant MELA-AU 17 4197818 4197818 single base substitution C T intron_variant MELA-AU 17 4197847 4197847 single base substitution C T downstream_gene_variant MELA-AU 17 4197847 4197847 single base substitution C T intron_variant MELA-AU 17 4198109 4198109 single base substitution G A downstream_gene_variant MELA-AU 17 4198109 4198109 single base substitution G A intron_variant MELA-AU 17 4198556 4198556 single base substitution A G downstream_gene_variant MELA-AU 17 4198556 4198556 single base substitution A G intron_variant MELA-AU 17 4198613 4198613 single base substitution G A downstream_gene_variant MELA-AU 17 4198613 4198613 single base substitution G A intron_variant MELA-AU 17 4199116 4199117 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 4199116 4199117 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 4199232 4199232 single base substitution A G downstream_gene_variant MELA-AU 17 4199232 4199232 single base substitution A G intron_variant MELA-AU 17 4199602 4199602 single base substitution G A downstream_gene_variant MELA-AU 17 4199602 4199602 single base substitution G A intron_variant MELA-AU 17 4199754 4199754 single base substitution C T downstream_gene_variant MELA-AU 17 4199754 4199754 single base substitution C T intron_variant MELA-AU 17 4201965 4201965 single base substitution A C intron_variant MELA-AU 17 4202013 4202013 single base substitution A T intron_variant MELA-AU 17 4205342 4205342 single base substitution A G intron_variant MELA-AU 17 4205458 4205458 insertion of <=200bp - A intron_variant MELA-AU 17 4205798 4205798 single base substitution G T intron_variant MELA-AU 17 4206207 4206207 single base substitution G A intron_variant MELA-AU 17 4207444 4207444 single base substitution C T intron_variant MELA-AU 17 4208812 4208812 insertion of <=200bp - A intron_variant MELA-AU 17 4208970 4208970 single base substitution G A intron_variant MELA-AU 17 4210072 4210072 single base substitution G A intron_variant MELA-AU 17 4210214 4210214 single base substitution G A intron_variant MELA-AU 17 4210344 4210344 single base substitution G A 5_prime_UTR_variant MELA-AU 17 4210344 4210344 single base substitution G A exon_variant MELA-AU 17 4210344 4210344 single base substitution G A missense_variant L41F 121C>T MELA-AU 17 4210761 4210761 single base substitution C A intron_variant MELA-AU 17 4211001 4211001 single base substitution G A intron_variant MELA-AU 17 4211873 4211873 single base substitution G A intron_variant MELA-AU 17 4212244 4212244 single base substitution G A intron_variant MELA-AU 17 4212411 4212411 single base substitution C T intron_variant MELA-AU 17 4212448 4212448 single base substitution A C intron_variant MELA-AU 17 4213060 4213060 single base substitution C T intron_variant MELA-AU 17 4214297 4214297 single base substitution G A intron_variant MELA-AU 17 4214416 4214416 single base substitution G A intron_variant MELA-AU 17 4215788 4215788 single base substitution G A intron_variant MELA-AU 17 4216921 4216922 deletion of <=200bp TC - intron_variant MELA-AU 17 4217711 4217711 single base substitution G A intron_variant MELA-AU 17 4217951 4217951 single base substitution G A intron_variant MELA-AU 17 4218430 4218430 single base substitution A C intron_variant MELA-AU 17 4219710 4219710 single base substitution C T intron_variant MELA-AU 17 4220878 4220878 single base substitution G A intron_variant MELA-AU 17 4222709 4222709 single base substitution G A intron_variant MELA-AU 17 4223001 4223001 single base substitution G A intron_variant MELA-AU 17 4223186 4223186 single base substitution A G intron_variant MELA-AU 17 4223214 4223214 single base substitution T C intron_variant MELA-AU 17 4223309 4223309 insertion of <=200bp - GT intron_variant MELA-AU 17 4223309 4223310 deletion of <=200bp GT - intron_variant MELA-AU 17 4223659 4223659 single base substitution T C intron_variant MELA-AU 17 4223710 4223710 single base substitution C T intron_variant MELA-AU 17 4223940 4223940 single base substitution G A intron_variant MELA-AU 17 4224509 4224509 single base substitution G A intron_variant MELA-AU 17 4225387 4225387 single base substitution G A intron_variant MELA-AU 17 4225944 4225945 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 4226161 4226161 single base substitution A G intron_variant MELA-AU 17 4226235 4226235 single base substitution G A intron_variant MELA-AU 17 4227400 4227400 single base substitution G A intron_variant MELA-AU 17 4227668 4227668 single base substitution G T intron_variant MELA-AU 17 4228528 4228528 single base substitution C T intron_variant MELA-AU 17 4229464 4229464 single base substitution G A intron_variant MELA-AU 17 4230249 4230249 single base substitution G A intron_variant MELA-AU 17 4232638 4232638 single base substitution G A intron_variant MELA-AU 17 4233289 4233289 single base substitution C T intron_variant MELA-AU 17 4233959 4233959 single base substitution G A intron_variant MELA-AU 17 4234234 4234234 deletion of <=200bp T - intron_variant MELA-AU 17 4234980 4234980 single base substitution G A intron_variant MELA-AU 17 4235910 4235910 single base substitution C T intron_variant MELA-AU 17 4235910 4235910 single base substitution C T upstream_gene_variant MELA-AU 17 4237026 4237026 single base substitution G A intron_variant MELA-AU 17 4237026 4237026 single base substitution G A upstream_gene_variant MELA-AU 17 4237483 4237483 single base substitution A C intron_variant MELA-AU 17 4237483 4237483 single base substitution A C upstream_gene_variant MELA-AU 17 4237702 4237702 single base substitution C T intron_variant MELA-AU 17 4237702 4237702 single base substitution C T upstream_gene_variant MELA-AU 17 4240157 4240157 single base substitution G C intron_variant MELA-AU 17 4240157 4240157 single base substitution G C upstream_gene_variant MELA-AU 17 4240166 4240166 single base substitution G A intron_variant MELA-AU 17 4240166 4240166 single base substitution G A upstream_gene_variant MELA-AU 17 4240454 4240454 single base substitution G A intron_variant MELA-AU 17 4242623 4242623 single base substitution G A intron_variant MELA-AU 17 4243360 4243360 single base substitution G A intron_variant MELA-AU 17 4245378 4245378 single base substitution A G intron_variant MELA-AU 17 4247655 4247655 single base substitution G A intron_variant MELA-AU 17 4248533 4248533 single base substitution G A intron_variant MELA-AU 17 4252541 4252541 single base substitution G A intron_variant MELA-AU 17 4252541 4252541 single base substitution G A upstream_gene_variant MELA-AU 17 4252686 4252686 single base substitution T C intron_variant MELA-AU 17 4252686 4252686 single base substitution T C upstream_gene_variant MELA-AU 17 4252897 4252897 single base substitution G A intron_variant MELA-AU 17 4252897 4252897 single base substitution G A upstream_gene_variant MELA-AU 17 4252898 4252898 single base substitution G A intron_variant MELA-AU 17 4252898 4252898 single base substitution G A upstream_gene_variant MELA-AU 17 4253516 4253516 single base substitution G A intron_variant MELA-AU 17 4253516 4253516 single base substitution G A upstream_gene_variant MELA-AU 17 4253743 4253743 single base substitution G A intron_variant MELA-AU 17 4253743 4253743 single base substitution G A upstream_gene_variant MELA-AU 17 4253937 4253937 single base substitution T A intron_variant MELA-AU 17 4253937 4253937 single base substitution T A upstream_gene_variant MELA-AU 17 4254483 4254483 single base substitution G A intron_variant MELA-AU 17 4254520 4254520 single base substitution G A intron_variant MELA-AU 17 4254976 4254977 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 4255374 4255374 single base substitution G A intron_variant MELA-AU 17 4256254 4256254 single base substitution C T intron_variant MELA-AU 17 4256421 4256421 single base substitution G A intron_variant MELA-AU 17 4257062 4257062 single base substitution C T intron_variant MELA-AU 17 4257407 4257408 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 4257577 4257577 single base substitution G A intron_variant MELA-AU 17 4257876 4257876 single base substitution A T intron_variant MELA-AU 17 4258431 4258431 single base substitution G C intron_variant MELA-AU 17 4259641 4259641 single base substitution G A intron_variant MELA-AU 17 4259648 4259648 single base substitution T C intron_variant MELA-AU 17 4262039 4262039 single base substitution G A intron_variant MELA-AU 17 4262047 4262047 single base substitution G A intron_variant MELA-AU 17 4262187 4262187 single base substitution C T intron_variant MELA-AU 17 4262360 4262360 single base substitution A G intron_variant MELA-AU 17 4262614 4262614 single base substitution G A intron_variant MELA-AU 17 4262945 4262945 single base substitution G A intron_variant MELA-AU 17 4263495 4263495 single base substitution G A intron_variant MELA-AU 17 4263716 4263716 single base substitution G A intron_variant MELA-AU 17 4263958 4263975 deletion of <=200bp GCACTTTGGGAGGCTGAG - intron_variant MELA-AU 17 4263979 4263979 single base substitution G A intron_variant MELA-AU 17 4264335 4264335 single base substitution C A intron_variant MELA-AU 17 4265156 4265156 single base substitution G A intron_variant MELA-AU 17 4265179 4265179 single base substitution C T intron_variant MELA-AU 17 4265577 4265577 single base substitution A G intron_variant MELA-AU 17 4265989 4265989 single base substitution G A intron_variant MELA-AU 17 4266231 4266231 single base substitution A T intron_variant MELA-AU 17 4266604 4266604 single base substitution C T intron_variant MELA-AU 17 4266962 4266962 single base substitution G A intron_variant MELA-AU 17 4268676 4268676 single base substitution A C intron_variant MELA-AU 17 4270041 4270041 single base substitution C T upstream_gene_variant MELA-AU 17 4270069 4270069 single base substitution C T upstream_gene_variant MELA-AU 17 4270083 4270083 single base substitution G A upstream_gene_variant MELA-AU 17 4270661 4270661 single base substitution T C upstream_gene_variant MELA-AU 17 4270906 4270906 single base substitution G A upstream_gene_variant MELA-AU 17 4271216 4271216 single base substitution G A upstream_gene_variant MELA-AU 17 4271626 4271626 single base substitution G A upstream_gene_variant MELA-AU 17 4272714 4272714 single base substitution C T upstream_gene_variant MELA-AU 17 4273353 4273353 single base substitution G A upstream_gene_variant MELA-AU 17 4273435 4273435 single base substitution C T upstream_gene_variant MELA-AU 17 4273558 4273558 single base substitution C T upstream_gene_variant MELA-AU 17 4273602 4273602 single base substitution C T upstream_gene_variant MELA-AU 17 4273726 4273726 single base substitution G A upstream_gene_variant MELA-AU 17 4274245 4274245 single base substitution G A upstream_gene_variant MELA-AU 17 4274278 4274278 single base substitution C T upstream_gene_variant MELA-AU 17 4274299 4274299 single base substitution C T upstream_gene_variant MELA-AU 17 4274493 4274493 single base substitution A G upstream_gene_variant MELA-AU 17 4274855 4274855 single base substitution G A upstream_gene_variant MELA-AU 17 4274865 4274865 single base substitution G A upstream_gene_variant ORCA-IN 17 4200033 4200033 single base substitution T C intron_variant ORCA-IN 17 4200033 4200033 single base substitution T C missense_variant T5A 13A>G ORCA-IN 17 4200033 4200033 single base substitution T C missense_variant T76A 226A>G ORCA-IN 17 4204228 4204228 insertion of <=200bp - A intron_variant ORCA-IN 17 4212993 4212993 single base substitution G A intron_variant ORCA-IN 17 4215270 4215270 single base substitution G A intron_variant ORCA-IN 17 4219632 4219632 single base substitution C T intron_variant ORCA-IN 17 4240628 4240629 deletion of <=200bp AG - intron_variant ORCA-IN 17 4244207 4244208 deletion of <=200bp AC - intron_variant ORCA-IN 17 4263163 4263163 deletion of <=200bp C - intron_variant OV-AU 17 4170241 4170241 single base substitution T C downstream_gene_variant OV-AU 17 4201668 4201668 single base substitution G T intron_variant OV-AU 17 4208869 4208869 single base substitution G A intron_variant OV-AU 17 4209365 4209365 single base substitution A C intron_variant OV-AU 17 4218018 4218018 single base substitution A T intron_variant OV-AU 17 4218264 4218264 single base substitution T C intron_variant OV-AU 17 4220988 4220988 single base substitution A G intron_variant OV-AU 17 4222280 4222280 single base substitution C A intron_variant OV-AU 17 4228862 4228862 single base substitution C A intron_variant OV-AU 17 4253335 4253335 single base substitution G A intron_variant OV-AU 17 4253335 4253335 single base substitution G A upstream_gene_variant OV-AU 17 4255877 4255877 single base substitution G A intron_variant OV-AU 17 4261985 4261985 single base substitution G A intron_variant OV-AU 17 4263582 4263582 single base substitution T A intron_variant OV-AU 17 4268906 4268906 single base substitution A C intron_variant OV-AU 17 4273247 4273247 single base substitution C A upstream_gene_variant OV-AU 17 4274769 4274769 single base substitution C G upstream_gene_variant PACA-AU 17 4179702 4179702 single base substitution T A intron_variant PACA-AU 17 4188144 4188144 single base substitution T C intron_variant PACA-AU 17 4192889 4192889 single base substitution C T intron_variant PACA-AU 17 4198001 4198001 single base substitution G C downstream_gene_variant PACA-AU 17 4198001 4198001 single base substitution G C intron_variant PACA-AU 17 4212112 4212147 deletion of <=200bp ATAATATAACTCAGAGTGCTACAAAGGACTGAACCA - intron_variant PACA-AU 17 4223029 4223029 single base substitution A G intron_variant PACA-AU 17 4231030 4231030 single base substitution T G intron_variant PACA-AU 17 4237329 4237329 single base substitution C A intron_variant PACA-AU 17 4237329 4237329 single base substitution C A upstream_gene_variant PACA-AU 17 4242621 4242621 single base substitution C T intron_variant PACA-AU 17 4261226 4261226 single base substitution C T intron_variant PACA-CA 17 4175378 4175378 single base substitution G C 3_prime_UTR_variant PACA-CA 17 4175378 4175378 single base substitution G C downstream_gene_variant PACA-CA 17 4182967 4182967 single base substitution C T downstream_gene_variant PACA-CA 17 4182967 4182967 single base substitution C T intron_variant PACA-CA 17 4195971 4195971 single base substitution C T downstream_gene_variant PACA-CA 17 4195971 4195971 single base substitution C T intron_variant PACA-CA 17 4197571 4197571 single base substitution C T downstream_gene_variant PACA-CA 17 4197571 4197571 single base substitution C T intron_variant PACA-CA 17 4200057 4200057 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 17 4200057 4200057 single base substitution G A intron_variant PACA-CA 17 4200057 4200057 single base substitution G A stop_gained R68* 202C>T PACA-CA 17 4204241 4204241 single base substitution A G intron_variant PACA-CA 17 4205965 4205965 single base substitution G C intron_variant PACA-CA 17 4208733 4208733 single base substitution C A intron_variant PACA-CA 17 4214238 4214238 single base substitution G A intron_variant PACA-CA 17 4224445 4224445 single base substitution A T intron_variant PACA-CA 17 4234068 4234068 single base substitution A T intron_variant PACA-CA 17 4253050 4253050 single base substitution A G intron_variant PACA-CA 17 4253050 4253050 single base substitution A G upstream_gene_variant PACA-CA 17 4263929 4263929 single base substitution C T intron_variant PACA-CA 17 4264234 4264234 single base substitution G A intron_variant PACA-CA 17 4264310 4264310 single base substitution G C intron_variant PACA-CA 17 4266247 4266247 single base substitution G A intron_variant PACA-CA 17 4268020 4268020 single base substitution G A intron_variant PACA-CA 17 4268437 4268437 single base substitution A G intron_variant PAEN-AU 17 4222857 4222857 single base substitution C T intron_variant PAEN-AU 17 4263407 4263408 deletion of <=200bp TA - intron_variant PBCA-DE 17 4168872 4168872 insertion of <=200bp - T downstream_gene_variant PBCA-DE 17 4178017 4178017 single base substitution A G intron_variant PBCA-DE 17 4178101 4178101 insertion of <=200bp - T intron_variant PBCA-DE 17 4179495 4179495 insertion of <=200bp - T intron_variant PBCA-DE 17 4201002 4201002 single base substitution G A intron_variant PBCA-DE 17 4212962 4212962 single base substitution C A intron_variant PBCA-DE 17 4247296 4247296 single base substitution C G intron_variant PBCA-DE 17 4270466 4270466 single base substitution C G upstream_gene_variant PBCA-DE 17 4273924 4273924 single base substitution C A upstream_gene_variant PBCA-DE 17 4274807 4274807 single base substitution G A upstream_gene_variant PRAD-CA 17 4170232 4170232 single base substitution T G downstream_gene_variant PRAD-CA 17 4177341 4177341 single base substitution T G intron_variant PRAD-CA 17 4230191 4230191 single base substitution C A intron_variant PRAD-CA 17 4230442 4230442 single base substitution T A intron_variant PRAD-CA 17 4245898 4245898 single base substitution T G intron_variant PRAD-CA 17 4250974 4250974 single base substitution G A intron_variant PRAD-CA 17 4250974 4250974 single base substitution G A upstream_gene_variant PRAD-CA 17 4257552 4257552 single base substitution A C intron_variant PRAD-UK 17 4187767 4187767 single base substitution G A intron_variant PRAD-UK 17 4193406 4193406 deletion of <=200bp A - intron_variant PRAD-UK 17 4200665 4200665 single base substitution C T intron_variant PRAD-UK 17 4202231 4202231 single base substitution G C intron_variant PRAD-UK 17 4212313 4212313 single base substitution A T intron_variant PRAD-UK 17 4236831 4236831 single base substitution C T intron_variant PRAD-UK 17 4236831 4236831 single base substitution C T upstream_gene_variant PRAD-UK 17 4246591 4246591 single base substitution T G intron_variant PRAD-UK 17 4274213 4274214 deletion of <=200bp GA - upstream_gene_variant RECA-EU 17 4185958 4185958 single base substitution C T downstream_gene_variant RECA-EU 17 4185958 4185958 single base substitution C T intron_variant RECA-EU 17 4188834 4188834 single base substitution C A intron_variant RECA-EU 17 4189716 4189716 single base substitution A G intron_variant RECA-EU 17 4192771 4192771 single base substitution A G intron_variant RECA-EU 17 4196056 4196056 single base substitution T G downstream_gene_variant RECA-EU 17 4196056 4196056 single base substitution T G intron_variant RECA-EU 17 4203192 4203192 single base substitution G A intron_variant RECA-EU 17 4207501 4207501 single base substitution C T intron_variant RECA-EU 17 4210517 4210517 single base substitution T C intron_variant RECA-EU 17 4214523 4214523 single base substitution G C intron_variant RECA-EU 17 4222647 4222647 single base substitution T C intron_variant RECA-EU 17 4231963 4231963 single base substitution A G intron_variant RECA-EU 17 4232724 4232724 single base substitution G T intron_variant RECA-EU 17 4238808 4238808 single base substitution A G intron_variant RECA-EU 17 4238808 4238808 single base substitution A G upstream_gene_variant RECA-EU 17 4239416 4239416 single base substitution T A intron_variant RECA-EU 17 4239416 4239416 single base substitution T A upstream_gene_variant RECA-EU 17 4243601 4243601 single base substitution G T intron_variant RECA-EU 17 4249729 4249729 single base substitution T C intron_variant RECA-EU 17 4249729 4249729 single base substitution T C upstream_gene_variant RECA-EU 17 4259161 4259161 single base substitution A G intron_variant RECA-EU 17 4264702 4264702 single base substitution A G intron_variant RECA-EU 17 4271684 4271684 single base substitution T C upstream_gene_variant SKCA-BR 17 4167900 4167900 single base substitution C T downstream_gene_variant SKCA-BR 17 4169439 4169439 single base substitution A G downstream_gene_variant SKCA-BR 17 4173844 4173844 insertion of <=200bp - TA 3_prime_UTR_variant SKCA-BR 17 4173844 4173844 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 17 4177021 4177021 single base substitution T G intron_variant SKCA-BR 17 4177264 4177265 deletion of <=200bp TA - intron_variant SKCA-BR 17 4177492 4177492 insertion of <=200bp - GT intron_variant SKCA-BR 17 4179833 4179833 single base substitution G A intron_variant SKCA-BR 17 4184980 4184980 single base substitution T C downstream_gene_variant SKCA-BR 17 4184980 4184980 single base substitution T C intron_variant SKCA-BR 17 4186895 4186895 single base substitution G A intron_variant SKCA-BR 17 4187399 4187399 single base substitution G C intron_variant SKCA-BR 17 4187900 4187900 single base substitution A T intron_variant SKCA-BR 17 4194646 4194646 single base substitution T G intron_variant SKCA-BR 17 4196185 4196185 single base substitution G A downstream_gene_variant SKCA-BR 17 4196185 4196185 single base substitution G A intron_variant SKCA-BR 17 4197457 4197457 single base substitution T C downstream_gene_variant SKCA-BR 17 4197457 4197457 single base substitution T C intron_variant SKCA-BR 17 4197729 4197744 deletion of <=200bp AAAAAAAGAAAGAAAC - downstream_gene_variant SKCA-BR 17 4197729 4197744 deletion of <=200bp AAAAAAAGAAAGAAAC - intron_variant SKCA-BR 17 4197730 4197744 deletion of <=200bp AAAAAAGAAAGAAAC - downstream_gene_variant SKCA-BR 17 4197730 4197744 deletion of <=200bp AAAAAAGAAAGAAAC - intron_variant SKCA-BR 17 4200785 4200785 single base substitution T G intron_variant SKCA-BR 17 4203612 4203612 single base substitution C G intron_variant SKCA-BR 17 4208063 4208063 single base substitution C T intron_variant SKCA-BR 17 4208248 4208249 deletion of <=200bp CT - intron_variant SKCA-BR 17 4209240 4209240 single base substitution G A intron_variant SKCA-BR 17 4213843 4213843 single base substitution A G intron_variant SKCA-BR 17 4216326 4216326 single base substitution T A intron_variant SKCA-BR 17 4220270 4220270 single base substitution T G intron_variant SKCA-BR 17 4228064 4228064 single base substitution G A intron_variant SKCA-BR 17 4228573 4228573 single base substitution G A intron_variant SKCA-BR 17 4240455 4240455 single base substitution A G intron_variant SKCA-BR 17 4240629 4240629 single base substitution G A intron_variant SKCA-BR 17 4241561 4241561 single base substitution G A intron_variant SKCA-BR 17 4242831 4242831 single base substitution C T intron_variant SKCA-BR 17 4243320 4243320 single base substitution G A intron_variant SKCA-BR 17 4243765 4243765 single base substitution G A intron_variant SKCA-BR 17 4247959 4247959 single base substitution C A intron_variant SKCA-BR 17 4247966 4247966 single base substitution A G intron_variant SKCA-BR 17 4249726 4249727 deletion of <=200bp CT - intron_variant SKCA-BR 17 4249726 4249727 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 17 4249730 4249730 single base substitution T C intron_variant SKCA-BR 17 4249730 4249730 single base substitution T C upstream_gene_variant SKCA-BR 17 4255562 4255562 single base substitution T A intron_variant SKCA-BR 17 4255705 4255705 single base substitution G A intron_variant SKCA-BR 17 4258661 4258661 single base substitution A G intron_variant SKCA-BR 17 4260150 4260194 deletion of <=200bp ATTGATAATAATGCATGGTTACAGGTGACTTTTTTTAAAAACTTC - intron_variant SKCA-BR 17 4263719 4263719 single base substitution T C intron_variant SKCA-BR 17 4269216 4269216 single base substitution A C intron_variant SKCA-BR 17 4269654 4269654 single base substitution G A 5_prime_UTR_variant SKCA-BR 17 4269826 4269826 single base substitution G A 5_prime_UTR_variant SKCA-BR 17 4269826 4269826 single base substitution G A upstream_gene_variant SKCA-BR 17 4272305 4272305 single base substitution G A upstream_gene_variant SKCA-BR 17 4272999 4272999 single base substitution G A upstream_gene_variant SKCA-BR 17 4273057 4273057 single base substitution G A upstream_gene_variant SKCM-US 17 4192609 4192609 single base substitution G A 3_prime_UTR_variant SKCM-US 17 4192609 4192609 single base substitution G A intron_variant SKCM-US 17 4192609 4192609 single base substitution G A synonymous_variant I114I 342C>T SKCM-US 17 4192609 4192609 single base substitution G A synonymous_variant I43I 129C>T UCEC-US 17 4210320 4210320 single base substitution G T 5_prime_UTR_variant UCEC-US 17 4210320 4210320 single base substitution G T exon_variant UCEC-US 17 4210320 4210320 single base substitution G T missense_variant L49I 145C>A UCEC-US 17 4210355 4210355 single base substitution C T 5_prime_UTR_variant UCEC-US 17 4210355 4210355 single base substitution C T exon_variant UCEC-US 17 4210355 4210355 single base substitution C T missense_variant R37Q 110G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 587278 COSM1231540 c.290C>A p.P97H Substitution - Missense 17:4289366-4289366 - cSCCP4 COSM139036 c.196C>T p.P66S Substitution - Missense 17:4296768-4296768 - Pat_70_B COSM5852628 c.268T>C p.C90R Substitution - Missense 17:4289388-4289388 - TCGA-AA-3833-01 COSM5111992 c.416_418delTTG p.V139delV Deletion - In frame 17:4289238-4289240 - HCC24 COSM3717401 c.93T>A p.D31E Substitution - Missense 17:4307077-4307077 - TCGA-18-3419-01 COSM706197 c.322G>T p.E108* Substitution - Nonsense 17:4289334-4289334 - Pat_70_A COSM5852628 c.268T>C p.C90R Substitution - Missense 17:4289388-4289388 - sysucc-311T COSM5464061 c.239A>G p.H80R Substitution - Missense 17:4296725-4296725 - TCGA-AP-A059-01 COSM979839 c.145C>A p.L49I Substitution - Missense 17:4307025-4307025 - TCGA-AA-A004-01 COSM298214 c.172C>T p.H58Y Substitution - Missense 17:4296792-4296792 - BD57T COSM5510869 c.194A>G p.Y65C Substitution - Missense 17:4296770-4296770 - LUAD-NYU284 COSM372829 c.495A>T p.Q165H Substitution - Missense 17:4282853-4282853 - TCGA-D1-A16X-01 COSM979840 c.110G>A p.R37Q Substitution - Missense 17:4307060-4307060 - PCSI_0083_Pa_P COSM3378210 c.202C>T p.R68* Substitution - Nonsense 17:4296762-4296762 - PCSI_0083_Pa_P_526 COSM3378210 c.202C>T p.R68* Substitution - Nonsense 17:4296762-4296762 - 2521259 COSM139036 c.196C>T p.P66S Substitution - Missense 17:4296768-4296768 - TCGA-AZ-4315-01 COSM1383828 c.308G>A p.G103D Substitution - Missense 17:4289348-4289348 - TCGA-A6-2684-01 COSM5083148 c.426G>A p.A142A Substitution - coding silent 17:4289230-4289230 - TCGA-AA-A010-01 COSM286230 c.454G>T p.E152* Substitution - Nonsense 17:4282894-4282894 - CHC1715T COSM4789555 c.257A>G p.N86S Substitution - Missense 17:4289399-4289399 - YUROG COSM5386448 c.75T>G p.F25L Substitution - Missense 17:4307095-4307095 - TCGA-EE-A2GI-06 COSM3517953 c.342C>T p.I114I Substitution - coding silent 17:4289314-4289314 - PT15_1 COSM5897966 c.337C>T p.P113S Substitution - Missense 17:4289319-4289319 - T2269 COSM4738675 c.47-1G>T p.? Unknown 17:4307124-4307124 - 61 COSM5740809 c.46G>A p.E16K Substitution - Missense 17:4366271-4366271 - ESCC_BICR_040T COSM5429937 c.275C>G p.S92C Substitution - Missense 17:4289381-4289381 - PT55 COSM5942752 c.125T>A p.I42N Substitution - Missense 17:4307045-4307045 - TCGA-G2-A3VY-01 COSM3795661 c.222C>T p.F74F Substitution - coding silent 17:4296742-4296742 - RK089_C01 COSM1630214 c.310T>C p.Y104H Substitution - Missense 17:4289346-4289346 - HCC24T COSM3717401 c.93T>A p.D31E Substitution - Missense 17:4307077-4307077 - CHC1715T COSM4789555 c.257A>G p.N86S Substitution - Missense 17:4289399-4289399 - PCSI_0083_Pa_X COSM3378210 c.202C>T p.R68* Substitution - Nonsense 17:4296762-4296762 - OSCC-GB_01070111 COSM4889233 c.226A>G p.T76A Substitution - Missense 17:4296738-4296738 - CSCC-49-T COSM4472074 c.175C>T p.L59F Substitution - Missense 17:4296789-4296789 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.741319 17p13.2 601569

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G IntronicSNV . c.46+28056T>C 17 4241510 CLL A G Missense p.Y104H c.310T>C 17 4192641 HC A G Synonymous p.P69P c.207T>C 17 4200052 CM C A Nonsense p.E108* c.322G>T 17 4192629 LUSC C T 3-UTRSNV . c.510+12059G>A 17 4174074 ALL C T Synonymous p.R146R c.438G>A 17 4186205 LUAD G A 5-UTRSNV . c.1-48C>T 17 4269659 CM G A Missense p.H58Y c.172C>T 17 4200087 COREAD G A Synonymous p.I114I c.342C>T 17 4192609 CM T C 3-UTRSNV . c.510+10497A>G 17 4175636 HC T C IntronicSNV . c.510+7533A>G 17 4178600 CLL