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 ACC 17 37070576 37070576 + Splice_Site SNP A A C TCGA-OR-A5K5-01A-11D-A29I-10 TCGA-OR-A5K5-10A-01D-A29L-10 g.chr17:37070576A>C c.e5-1 BLCA 17 37026461 37026461 + Missense_Mutation SNP C C G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 g.chr17:37026461C>G c.19C>G c.(19-21)Cgg>Ggg p.R7G BLCA 17 37046755 37046755 + Nonsense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 g.chr17:37046755C>T c.247C>T c.(247-249)Cag>Tag p.Q83* BLCA 17 37074951 37074951 + Missense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr17:37074951G>A c.706G>A c.(706-708)Gac>Aac p.D236N BRCA 17 37054741 37054741 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 g.chr17:37054741G>A c.326G>A c.(325-327)aGa>aAa p.R109K BRCA 17 37074895 37074895 + Missense_Mutation SNP A A C TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-11A-31D-A10E-09 g.chr17:37074895A>C c.650A>C c.(649-651)gAc>gCc p.D217A CESC 17 37034359 37034359 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 g.chr17:37034359C>G c.90C>G c.(88-90)ttC>ttG p.F30L CHOL 17 37071356 37071356 + Missense_Mutation SNP C C T TCGA-W5-AA2R-01A-11D-A417-09 TCGA-W5-AA2R-10A-01D-A41A-09 g.chr17:37071356C>T c.569C>T c.(568-570)gCa>gTa p.A190V COAD 17 37034433 37034433 + Splice_Site SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr17:37034433C>T c.164C>T c.(163-165)gCa>gTa p.A55V COAD 17 37054772 37054772 + Splice_Site SNP C C T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr17:37054772C>T c.357C>T c.(355-357)aaC>aaT p.N119N COAD 17 37070658 37070658 + Silent SNP A A G TCGA-AA-3660-01A-01D-1719-10 TCGA-AA-3660-11A-01D-1719-10 g.chr17:37070658A>G c.438A>G c.(436-438)tcA>tcG p.S146S COAD 17 37074956 37074956 + Silent SNP C C T TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr17:37074956C>T c.711C>T c.(709-711)gaC>gaT p.D237D COADREAD 17 37034433 37034433 + Splice_Site SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr17:37034433C>T c.164C>T c.(163-165)gCa>gTa p.A55V COADREAD 17 37054772 37054772 + Splice_Site SNP C C T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr17:37054772C>T c.357C>T c.(355-357)aaC>aaT p.N119N COADREAD 17 37070658 37070658 + Silent SNP A A G TCGA-AA-3660-01A-01D-1719-10 TCGA-AA-3660-11A-01D-1719-10 g.chr17:37070658A>G c.438A>G c.(436-438)tcA>tcG p.S146S COADREAD 17 37074956 37074956 + Silent SNP C C T TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr17:37074956C>T c.711C>T c.(709-711)gaC>gaT p.D237D COADREAD 17 37074956 37074956 + Silent SNP C C T TCGA-AG-3898-01A-01W-1073-09 TCGA-AG-3898-10A-01W-1073-09 g.chr17:37074956C>T c.711C>T c.(709-711)gaC>gaT p.D237D ESCA 17 37074945 37074945 + Nonsense_Mutation SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 g.chr17:37074945C>T c.700C>T c.(700-702)Cag>Tag p.Q234* ESCA 17 37074987 37074987 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 g.chr17:37074987G>A c.742G>A c.(742-744)Ggc>Agc p.G248S KIPAN 17 37070728 37070728 + Splice_Site SNP G G A TCGA-A4-A4ZT-01A-11D-A26P-10 TCGA-A4-A4ZT-10A-01D-A26P-10 g.chr17:37070728G>A c.508G>A c.(508-510)Gtt>Att p.V170I KIPAN 17 37074921 37074921 + Missense_Mutation SNP G G T TCGA-HE-7129-01A-11D-1961-08 TCGA-HE-7129-10A-01D-1962-08 g.chr17:37074921G>T c.676G>T c.(676-678)Ggg>Tgg p.G226W KIRP 17 37070728 37070728 + Splice_Site SNP G G A TCGA-A4-A4ZT-01A-11D-A26P-10 TCGA-A4-A4ZT-10A-01D-A26P-10 g.chr17:37070728G>A c.508G>A c.(508-510)Gtt>Att p.V170I KIRP 17 37074921 37074921 + Missense_Mutation SNP G G T TCGA-HE-7129-01A-11D-1961-08 TCGA-HE-7129-10A-01D-1962-08 g.chr17:37074921G>T c.676G>T c.(676-678)Ggg>Tgg p.G226W LIHC 17 37074888 37074888 + Missense_Mutation SNP G G A TCGA-G3-AAV5-01A-11D-A36X-10 TCGA-G3-AAV5-10A-01D-A370-10 g.chr17:37074888G>A c.643G>A c.(643-645)Gcc>Acc p.A215T LUAD 17 37034383 37034383 + Silent SNP A A G TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 g.chr17:37034383A>G c.114A>G c.(112-114)acA>acG p.T38T LUAD 17 37070622 37070622 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 g.chr17:37070622C>G c.402C>G c.(400-402)agC>agG p.S134R LUAD 17 37070638 37070638 + Missense_Mutation SNP G G C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 g.chr17:37070638G>C c.418G>C c.(418-420)Gag>Cag p.E140Q LUAD 17 37071325 37071325 + Missense_Mutation SNP G G T TCGA-05-5428-01A-01D-1625-08 TCGA-05-5428-10A-01D-1625-08 g.chr17:37071325G>T c.538G>T c.(538-540)Gcc>Tcc p.A180S LUAD 17 37074911 37074911 + Silent SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 g.chr17:37074911C>T c.666C>T c.(664-666)tcC>tcT p.S222S LUAD 17 37074947 37074947 + Silent SNP G G A TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr17:37074947G>A c.702G>A c.(700-702)caG>caA p.Q234Q LUAD 17 37074986 37074986 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr17:37074986C>T c.741C>T c.(739-741)acC>acT p.T247T PRAD 17 37074891 37074891 + Missense_Mutation SNP G G A TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 g.chr17:37074891G>A c.646G>A c.(646-648)Gcc>Acc p.A216T PRAD 17 37074902 37074902 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:37074902C>T c.657C>T c.(655-657)gaC>gaT p.D219D PRAD 17 37074903 37074903 + Nonsense_Mutation SNP G G T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 g.chr17:37074903G>T c.658G>T c.(658-660)Gag>Tag p.E220* READ 17 37074956 37074956 + Silent SNP C C T TCGA-AG-3898-01A-01W-1073-09 TCGA-AG-3898-10A-01W-1073-09 g.chr17:37074956C>T c.711C>T c.(709-711)gaC>gaT p.D237D SKCM 17 37046721 37046721 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr17:37046721C>T c.213C>T c.(211-213)aaC>aaT p.N71N SKCM 17 37046722 37046722 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr17:37046722C>T c.214C>T c.(214-216)Ctt>Ttt p.L72F SKCM 17 37070713 37070713 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 g.chr17:37070713C>T c.493C>T c.(493-495)Ccg>Tcg p.P165S

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 37071396 37071396 single base substitution C T 3_prime_UTR_variant BLCA-CN 17 37071396 37071396 single base substitution C T downstream_gene_variant BLCA-CN 17 37071396 37071396 single base substitution C T synonymous_variant G147G 441C>T BLCA-CN 17 37071396 37071396 single base substitution C T synonymous_variant G203G 609C>T BLCA-CN 17 37071396 37071396 single base substitution C T synonymous_variant G60G 180C>T BLCA-US 17 37026461 37026461 single base substitution C G 5_prime_UTR_variant BLCA-US 17 37026461 37026461 single base substitution C G exon_variant BLCA-US 17 37026461 37026461 single base substitution C G missense_variant R7G 19C>G BLCA-US 17 37026461 37026461 single base substitution C G upstream_gene_variant BLCA-US 17 37046755 37046755 single base substitution C T intron_variant BLCA-US 17 37046755 37046755 single base substitution C T splice_region_variant BLCA-US 17 37046755 37046755 single base substitution C T stop_gained Q47* 139C>T BLCA-US 17 37046755 37046755 single base substitution C T stop_gained Q83* 247C>T BRCA-EU 17 37021600 37021600 single base substitution G C upstream_gene_variant BRCA-EU 17 37022364 37022364 single base substitution G C upstream_gene_variant BRCA-EU 17 37022596 37022596 single base substitution G T upstream_gene_variant BRCA-EU 17 37023236 37023236 single base substitution C G upstream_gene_variant BRCA-EU 17 37023890 37023890 single base substitution C T upstream_gene_variant BRCA-EU 17 37023897 37023897 single base substitution A G upstream_gene_variant BRCA-EU 17 37024000 37024000 single base substitution C G upstream_gene_variant BRCA-EU 17 37024153 37024153 single base substitution C A upstream_gene_variant BRCA-EU 17 37024176 37024176 single base substitution C G upstream_gene_variant BRCA-EU 17 37024692 37024692 single base substitution C T upstream_gene_variant BRCA-EU 17 37024870 37024870 single base substitution C T upstream_gene_variant BRCA-EU 17 37025581 37025581 single base substitution C T upstream_gene_variant BRCA-EU 17 37025946 37025946 single base substitution G A upstream_gene_variant BRCA-EU 17 37026212 37026212 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 17 37026212 37026212 single base substitution C T upstream_gene_variant BRCA-EU 17 37027599 37027599 single base substitution C T intron_variant BRCA-EU 17 37027599 37027599 single base substitution C T upstream_gene_variant BRCA-EU 17 37027969 37027969 single base substitution C G intron_variant BRCA-EU 17 37027969 37027969 single base substitution C G upstream_gene_variant BRCA-EU 17 37028296 37028296 single base substitution G A intron_variant BRCA-EU 17 37028296 37028296 single base substitution G A upstream_gene_variant BRCA-EU 17 37028585 37028585 single base substitution G A intron_variant BRCA-EU 17 37028585 37028585 single base substitution G A upstream_gene_variant BRCA-EU 17 37028907 37028907 single base substitution C T intron_variant BRCA-EU 17 37028907 37028907 single base substitution C T upstream_gene_variant BRCA-EU 17 37029350 37029350 single base substitution C G intron_variant BRCA-EU 17 37029350 37029350 single base substitution C G upstream_gene_variant BRCA-EU 17 37029376 37029376 single base substitution C T intron_variant BRCA-EU 17 37029376 37029376 single base substitution C T upstream_gene_variant BRCA-EU 17 37029471 37029471 single base substitution C G intron_variant BRCA-EU 17 37029471 37029471 single base substitution C G upstream_gene_variant BRCA-EU 17 37029568 37029568 single base substitution G A intron_variant BRCA-EU 17 37029568 37029568 single base substitution G A upstream_gene_variant BRCA-EU 17 37029598 37029598 single base substitution C T intron_variant BRCA-EU 17 37029598 37029598 single base substitution C T upstream_gene_variant BRCA-EU 17 37031061 37031061 single base substitution G A intron_variant BRCA-EU 17 37031345 37031346 deletion of <=200bp AA - intron_variant BRCA-EU 17 37031563 37031563 single base substitution G C intron_variant BRCA-EU 17 37032095 37032095 single base substitution C A intron_variant BRCA-EU 17 37032161 37032161 single base substitution C G intron_variant BRCA-EU 17 37032305 37032305 single base substitution C T intron_variant BRCA-EU 17 37034424 37034424 single base substitution A G exon_variant BRCA-EU 17 37034424 37034424 single base substitution A G missense_variant Y16C 47A>G BRCA-EU 17 37034424 37034424 single base substitution A G missense_variant Y52C 155A>G BRCA-EU 17 37034424 37034424 single base substitution A G synonymous_variant L24L 72A>G BRCA-EU 17 37034733 37034733 single base substitution G A intron_variant BRCA-EU 17 37035503 37035503 single base substitution G C intron_variant BRCA-EU 17 37035654 37035654 single base substitution A G intron_variant BRCA-EU 17 37036561 37036561 single base substitution C A intron_variant BRCA-EU 17 37036847 37036847 single base substitution G C intron_variant BRCA-EU 17 37036942 37036942 single base substitution C A intron_variant BRCA-EU 17 37037818 37037818 single base substitution C G intron_variant BRCA-EU 17 37038539 37038539 single base substitution C G intron_variant BRCA-EU 17 37038730 37038730 single base substitution A T intron_variant BRCA-EU 17 37039283 37039283 single base substitution C T intron_variant BRCA-EU 17 37041655 37041655 single base substitution A C intron_variant BRCA-EU 17 37041655 37041655 single base substitution A C upstream_gene_variant BRCA-EU 17 37043278 37043278 single base substitution C T intron_variant BRCA-EU 17 37043278 37043278 single base substitution C T upstream_gene_variant BRCA-EU 17 37045482 37045482 single base substitution C G intron_variant BRCA-EU 17 37045482 37045482 single base substitution C G upstream_gene_variant BRCA-EU 17 37045897 37045897 single base substitution A G intron_variant BRCA-EU 17 37045897 37045897 single base substitution A G upstream_gene_variant BRCA-EU 17 37046376 37046376 single base substitution A C intron_variant BRCA-EU 17 37046376 37046376 single base substitution A C upstream_gene_variant BRCA-EU 17 37046760 37046760 single base substitution G A intron_variant BRCA-EU 17 37046760 37046760 single base substitution G A splice_region_variant BRCA-EU 17 37048002 37048002 single base substitution A T intron_variant BRCA-EU 17 37048507 37048507 single base substitution C G intron_variant BRCA-EU 17 37049213 37049214 deletion of <=200bp TG - intron_variant BRCA-EU 17 37049597 37049597 single base substitution C G intron_variant BRCA-EU 17 37050588 37050588 deletion of <=200bp G - intron_variant BRCA-EU 17 37051446 37051446 single base substitution A T intron_variant BRCA-EU 17 37052867 37052867 single base substitution C T intron_variant BRCA-EU 17 37054749 37054749 single base substitution A G 3_prime_UTR_variant BRCA-EU 17 37054749 37054749 single base substitution A G exon_variant BRCA-EU 17 37054749 37054749 single base substitution A G missense_variant K112E 334A>G BRCA-EU 17 37054749 37054749 single base substitution A G missense_variant K56E 166A>G BRCA-EU 17 37054749 37054749 single base substitution A G missense_variant K76E 226A>G BRCA-EU 17 37055905 37055905 single base substitution G T downstream_gene_variant BRCA-EU 17 37055905 37055905 single base substitution G T intron_variant BRCA-EU 17 37057162 37057162 single base substitution T A downstream_gene_variant BRCA-EU 17 37057162 37057162 single base substitution T A intron_variant BRCA-EU 17 37057296 37057296 single base substitution C A downstream_gene_variant BRCA-EU 17 37057296 37057296 single base substitution C A intron_variant BRCA-EU 17 37057529 37057529 single base substitution C T downstream_gene_variant BRCA-EU 17 37057529 37057529 single base substitution C T intron_variant BRCA-EU 17 37061276 37061276 single base substitution T C intron_variant BRCA-EU 17 37061485 37061485 single base substitution A G intron_variant BRCA-EU 17 37062147 37062147 insertion of <=200bp - A intron_variant BRCA-EU 17 37064482 37064482 single base substitution C A intron_variant BRCA-EU 17 37064799 37064799 single base substitution C A intron_variant BRCA-EU 17 37064951 37064951 single base substitution C G intron_variant BRCA-EU 17 37067336 37067336 single base substitution C T intron_variant BRCA-EU 17 37067336 37067336 single base substitution C T upstream_gene_variant BRCA-EU 17 37068949 37068949 single base substitution G A intron_variant BRCA-EU 17 37068949 37068949 single base substitution G A upstream_gene_variant BRCA-EU 17 37069976 37069976 single base substitution C T intron_variant BRCA-EU 17 37069976 37069976 single base substitution C T upstream_gene_variant BRCA-EU 17 37071940 37071940 single base substitution T C 3_prime_UTR_variant BRCA-EU 17 37071940 37071940 single base substitution T C downstream_gene_variant BRCA-EU 17 37071940 37071940 single base substitution T C intron_variant BRCA-EU 17 37072023 37072023 single base substitution C G 3_prime_UTR_variant BRCA-EU 17 37072023 37072023 single base substitution C G downstream_gene_variant BRCA-EU 17 37072023 37072023 single base substitution C G intron_variant BRCA-EU 17 37072379 37072379 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 37072379 37072379 single base substitution C T downstream_gene_variant BRCA-EU 17 37072379 37072379 single base substitution C T intron_variant BRCA-EU 17 37072414 37072414 single base substitution G T 3_prime_UTR_variant BRCA-EU 17 37072414 37072414 single base substitution G T downstream_gene_variant BRCA-EU 17 37072414 37072414 single base substitution G T intron_variant BRCA-EU 17 37072434 37072434 single base substitution G C 3_prime_UTR_variant BRCA-EU 17 37072434 37072434 single base substitution G C downstream_gene_variant BRCA-EU 17 37072434 37072434 single base substitution G C intron_variant BRCA-EU 17 37074438 37074438 single base substitution C T downstream_gene_variant BRCA-EU 17 37074438 37074438 single base substitution C T intron_variant BRCA-EU 17 37074636 37074636 single base substitution C G downstream_gene_variant BRCA-EU 17 37074636 37074636 single base substitution C G intron_variant BRCA-EU 17 37075655 37075655 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 37075655 37075655 single base substitution C T downstream_gene_variant BRCA-EU 17 37076227 37076227 single base substitution G C 3_prime_UTR_variant BRCA-EU 17 37076227 37076227 single base substitution G C downstream_gene_variant BRCA-EU 17 37076563 37076566 deletion of <=200bp ACTT - 3_prime_UTR_variant BRCA-EU 17 37076563 37076566 deletion of <=200bp ACTT - downstream_gene_variant BRCA-EU 17 37077125 37077125 single base substitution T G 3_prime_UTR_variant BRCA-EU 17 37077125 37077125 single base substitution T G downstream_gene_variant BRCA-EU 17 37078161 37078180 deletion of <=200bp GTCTGCTTGGGGGCACTGGC - downstream_gene_variant BRCA-EU 17 37078428 37078428 single base substitution C A downstream_gene_variant BRCA-EU 17 37079834 37079834 single base substitution G T downstream_gene_variant BRCA-EU 17 37080499 37080499 single base substitution C A downstream_gene_variant BRCA-EU 17 37081251 37081251 single base substitution C G downstream_gene_variant BRCA-EU 17 37081696 37081696 single base substitution T A downstream_gene_variant BRCA-EU 17 37082323 37082323 single base substitution G A downstream_gene_variant BRCA-EU 17 37082492 37082492 single base substitution T A downstream_gene_variant BRCA-FR 17 37022364 37022364 single base substitution G C upstream_gene_variant BRCA-FR 17 37022596 37022596 single base substitution G T upstream_gene_variant BRCA-FR 17 37023124 37023124 single base substitution C A upstream_gene_variant BRCA-FR 17 37024000 37024000 single base substitution C G upstream_gene_variant BRCA-FR 17 37024870 37024870 single base substitution C T upstream_gene_variant BRCA-FR 17 37025946 37025946 single base substitution G A upstream_gene_variant BRCA-FR 17 37029568 37029568 single base substitution G A intron_variant BRCA-FR 17 37029568 37029568 single base substitution G A upstream_gene_variant BRCA-FR 17 37032095 37032095 single base substitution C A intron_variant BRCA-FR 17 37033691 37033691 single base substitution G A intron_variant BRCA-FR 17 37035567 37035567 single base substitution C T intron_variant BRCA-FR 17 37036299 37036299 single base substitution C T intron_variant BRCA-FR 17 37037035 37037035 single base substitution C G intron_variant BRCA-FR 17 37038730 37038730 single base substitution A T intron_variant BRCA-FR 17 37039283 37039283 single base substitution C T intron_variant BRCA-FR 17 37041185 37041185 single base substitution C T intron_variant BRCA-FR 17 37046376 37046376 single base substitution A C intron_variant BRCA-FR 17 37046376 37046376 single base substitution A C upstream_gene_variant BRCA-FR 17 37051224 37051224 single base substitution C A intron_variant BRCA-FR 17 37057529 37057529 single base substitution C T downstream_gene_variant BRCA-FR 17 37057529 37057529 single base substitution C T intron_variant BRCA-FR 17 37059040 37059040 single base substitution C G downstream_gene_variant BRCA-FR 17 37059040 37059040 single base substitution C G intron_variant BRCA-FR 17 37063022 37063022 single base substitution T G intron_variant BRCA-FR 17 37063223 37063223 single base substitution C G intron_variant BRCA-FR 17 37064482 37064482 single base substitution C A intron_variant BRCA-FR 17 37067336 37067336 single base substitution C T intron_variant BRCA-FR 17 37067336 37067336 single base substitution C T upstream_gene_variant BRCA-FR 17 37068326 37068326 single base substitution C T intron_variant BRCA-FR 17 37068326 37068326 single base substitution C T upstream_gene_variant BRCA-FR 17 37068402 37068402 single base substitution C G intron_variant BRCA-FR 17 37068402 37068402 single base substitution C G upstream_gene_variant BRCA-FR 17 37070874 37070874 single base substitution G A intron_variant BRCA-FR 17 37072023 37072023 single base substitution C G 3_prime_UTR_variant BRCA-FR 17 37072023 37072023 single base substitution C G downstream_gene_variant BRCA-FR 17 37072023 37072023 single base substitution C G intron_variant BRCA-FR 17 37072414 37072414 single base substitution G T 3_prime_UTR_variant BRCA-FR 17 37072414 37072414 single base substitution G T downstream_gene_variant BRCA-FR 17 37072414 37072414 single base substitution G T intron_variant BRCA-FR 17 37072434 37072434 single base substitution G C 3_prime_UTR_variant BRCA-FR 17 37072434 37072434 single base substitution G C downstream_gene_variant BRCA-FR 17 37072434 37072434 single base substitution G C intron_variant BRCA-FR 17 37075655 37075655 single base substitution C T 3_prime_UTR_variant BRCA-FR 17 37075655 37075655 single base substitution C T downstream_gene_variant BRCA-FR 17 37077125 37077125 single base substitution T G 3_prime_UTR_variant BRCA-FR 17 37077125 37077125 single base substitution T G downstream_gene_variant BRCA-FR 17 37080499 37080499 single base substitution C A downstream_gene_variant BRCA-FR 17 37082323 37082323 single base substitution G A downstream_gene_variant BRCA-UK 17 37035654 37035654 single base substitution A G intron_variant BRCA-UK 17 37041655 37041655 single base substitution A C intron_variant BRCA-UK 17 37041655 37041655 single base substitution A C upstream_gene_variant BRCA-UK 17 37043278 37043278 single base substitution C T intron_variant BRCA-UK 17 37043278 37043278 single base substitution C T upstream_gene_variant BRCA-UK 17 37043753 37043753 single base substitution G C intron_variant BRCA-UK 17 37043753 37043753 single base substitution G C upstream_gene_variant BRCA-UK 17 37046164 37046164 single base substitution C A intron_variant BRCA-UK 17 37046164 37046164 single base substitution C A upstream_gene_variant BRCA-US 17 37054741 37054741 single base substitution G A 3_prime_UTR_variant BRCA-US 17 37054741 37054741 single base substitution G A exon_variant BRCA-US 17 37054741 37054741 single base substitution G A missense_variant R109K 326G>A BRCA-US 17 37054741 37054741 single base substitution G A missense_variant R53K 158G>A BRCA-US 17 37054741 37054741 single base substitution G A missense_variant R73K 218G>A BRCA-US 17 37074895 37074895 single base substitution A C 3_prime_UTR_variant BRCA-US 17 37074895 37074895 single base substitution A C downstream_gene_variant BRCA-US 17 37074895 37074895 single base substitution A C missense_variant D161A 482A>C BRCA-US 17 37074895 37074895 single base substitution A C missense_variant D217A 650A>C BTCA-JP 17 37046656 37046656 insertion of <=200bp - T exon_variant BTCA-JP 17 37046656 37046656 insertion of <=200bp - T intron_variant CESC-US 17 37034359 37034359 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant CESC-US 17 37034359 37034359 single base substitution C G exon_variant CESC-US 17 37034359 37034359 single base substitution C G missense_variant F30L 90C>G CESC-US 17 37034359 37034359 single base substitution C G missense_variant P3A 7C>G CESC-US 17 37077979 37077979 single base substitution C G 3_prime_UTR_variant CESC-US 17 37077979 37077979 single base substitution C G downstream_gene_variant CLLE-ES 17 37040923 37040923 single base substitution T G intron_variant CLLE-ES 17 37040951 37040951 single base substitution T C intron_variant CLLE-ES 17 37047459 37047459 single base substitution G A intron_variant CLLE-ES 17 37051196 37051196 single base substitution G T intron_variant COAD-US 17 37074956 37074956 single base substitution C T 3_prime_UTR_variant COAD-US 17 37074956 37074956 single base substitution C T downstream_gene_variant COAD-US 17 37074956 37074956 single base substitution C T synonymous_variant D181D 543C>T COAD-US 17 37074956 37074956 single base substitution C T synonymous_variant D237D 711C>T COCA-CN 17 37054741 37054741 single base substitution G T 3_prime_UTR_variant COCA-CN 17 37054741 37054741 single base substitution G T exon_variant COCA-CN 17 37054741 37054741 single base substitution G T missense_variant R109I 326G>T COCA-CN 17 37054741 37054741 single base substitution G T missense_variant R53I 158G>T COCA-CN 17 37054741 37054741 single base substitution G T missense_variant R73I 218G>T COCA-CN 17 37074891 37074891 single base substitution G A 3_prime_UTR_variant COCA-CN 17 37074891 37074891 single base substitution G A downstream_gene_variant COCA-CN 17 37074891 37074891 single base substitution G A missense_variant A160T 478G>A COCA-CN 17 37074891 37074891 single base substitution G A missense_variant A216T 646G>A COCA-CN 17 37075285 37075285 single base substitution G A 3_prime_UTR_variant COCA-CN 17 37075285 37075285 single base substitution G A downstream_gene_variant EOPC-DE 17 37024761 37024761 single base substitution G A upstream_gene_variant EOPC-DE 17 37081723 37081723 single base substitution C G downstream_gene_variant ESAD-UK 17 37021770 37021770 single base substitution A C upstream_gene_variant ESAD-UK 17 37023134 37023134 single base substitution G A upstream_gene_variant ESAD-UK 17 37023884 37023884 single base substitution G A upstream_gene_variant ESAD-UK 17 37025578 37025578 single base substitution G A upstream_gene_variant ESAD-UK 17 37025622 37025622 single base substitution T A upstream_gene_variant ESAD-UK 17 37026855 37026855 single base substitution A G intron_variant ESAD-UK 17 37026855 37026855 single base substitution A G upstream_gene_variant ESAD-UK 17 37027198 37027198 single base substitution G A intron_variant ESAD-UK 17 37027198 37027198 single base substitution G A upstream_gene_variant ESAD-UK 17 37028700 37028700 single base substitution T G intron_variant ESAD-UK 17 37028700 37028700 single base substitution T G upstream_gene_variant ESAD-UK 17 37030183 37030183 deletion of <=200bp C - 5_prime_UTR_variant ESAD-UK 17 37030183 37030183 deletion of <=200bp C - intron_variant ESAD-UK 17 37030445 37030445 single base substitution G A intron_variant ESAD-UK 17 37030537 37030537 single base substitution G A intron_variant ESAD-UK 17 37030651 37030651 single base substitution C T intron_variant ESAD-UK 17 37032597 37032597 insertion of <=200bp - TATT intron_variant ESAD-UK 17 37034097 37034097 single base substitution C A intron_variant ESAD-UK 17 37036132 37036132 single base substitution G A intron_variant ESAD-UK 17 37037052 37037052 single base substitution C G intron_variant ESAD-UK 17 37038515 37038515 deletion of <=200bp T - intron_variant ESAD-UK 17 37038705 37038705 single base substitution T A intron_variant ESAD-UK 17 37039767 37039767 single base substitution G A intron_variant ESAD-UK 17 37041642 37041642 single base substitution G A intron_variant ESAD-UK 17 37041642 37041642 single base substitution G A upstream_gene_variant ESAD-UK 17 37043252 37043252 single base substitution G A intron_variant ESAD-UK 17 37043252 37043252 single base substitution G A upstream_gene_variant ESAD-UK 17 37043851 37043851 single base substitution G A intron_variant ESAD-UK 17 37043851 37043851 single base substitution G A upstream_gene_variant ESAD-UK 17 37044761 37044761 single base substitution C A intron_variant ESAD-UK 17 37044761 37044761 single base substitution C A upstream_gene_variant ESAD-UK 17 37044810 37044810 single base substitution C T intron_variant ESAD-UK 17 37044810 37044810 single base substitution C T upstream_gene_variant ESAD-UK 17 37045374 37045374 single base substitution T G intron_variant ESAD-UK 17 37045374 37045374 single base substitution T G upstream_gene_variant ESAD-UK 17 37045668 37045668 single base substitution C G intron_variant ESAD-UK 17 37045668 37045668 single base substitution C G upstream_gene_variant ESAD-UK 17 37051690 37051690 single base substitution C T intron_variant ESAD-UK 17 37053121 37053121 single base substitution A G intron_variant ESAD-UK 17 37058755 37058755 single base substitution G A downstream_gene_variant ESAD-UK 17 37058755 37058755 single base substitution G A intron_variant ESAD-UK 17 37059022 37059022 single base substitution C T downstream_gene_variant ESAD-UK 17 37059022 37059022 single base substitution C T intron_variant ESAD-UK 17 37064378 37064378 single base substitution G C intron_variant ESAD-UK 17 37066570 37066570 single base substitution G A intron_variant ESAD-UK 17 37066570 37066570 single base substitution G A upstream_gene_variant ESAD-UK 17 37069345 37069345 single base substitution G T intron_variant ESAD-UK 17 37069345 37069345 single base substitution G T upstream_gene_variant ESAD-UK 17 37072652 37072652 single base substitution A C 3_prime_UTR_variant ESAD-UK 17 37072652 37072652 single base substitution A C downstream_gene_variant ESAD-UK 17 37072652 37072652 single base substitution A C intron_variant ESAD-UK 17 37074772 37074772 single base substitution C T downstream_gene_variant ESAD-UK 17 37074772 37074772 single base substitution C T intron_variant ESAD-UK 17 37076282 37076282 single base substitution C A 3_prime_UTR_variant ESAD-UK 17 37076282 37076282 single base substitution C A downstream_gene_variant ESAD-UK 17 37076282 37076282 single base substitution C A intron_variant ESAD-UK 17 37077679 37077679 single base substitution C G 3_prime_UTR_variant ESAD-UK 17 37077679 37077679 single base substitution C G downstream_gene_variant ESAD-UK 17 37077706 37077706 insertion of <=200bp - T 3_prime_UTR_variant ESAD-UK 17 37077706 37077706 insertion of <=200bp - T downstream_gene_variant ESAD-UK 17 37079240 37079240 single base substitution G A downstream_gene_variant ESAD-UK 17 37080221 37080224 deletion of <=200bp AAAG - downstream_gene_variant ESAD-UK 17 37081670 37081670 single base substitution C T downstream_gene_variant ESCA-CN 17 37054686 37054686 single base substitution G A 3_prime_UTR_variant ESCA-CN 17 37054686 37054686 single base substitution G A exon_variant ESCA-CN 17 37054686 37054686 single base substitution G A missense_variant E35K 103G>A ESCA-CN 17 37054686 37054686 single base substitution G A missense_variant E55K 163G>A ESCA-CN 17 37054686 37054686 single base substitution G A missense_variant E91K 271G>A ESCA-CN 17 37075081 37075081 single base substitution G A 3_prime_UTR_variant ESCA-CN 17 37075081 37075081 single base substitution G A downstream_gene_variant KIRP-US 17 37070728 37070728 single base substitution G A missense_variant V114I 340G>A KIRP-US 17 37070728 37070728 single base substitution G A missense_variant V134I 400G>A KIRP-US 17 37070728 37070728 single base substitution G A missense_variant V170I 508G>A KIRP-US 17 37070728 37070728 single base substitution G A missense_variant V27I 79G>A KIRP-US 17 37070728 37070728 single base substitution G A splice_region_variant LAML-KR 17 37080534 37080534 single base substitution A G downstream_gene_variant LICA-FR 17 37035403 37035403 single base substitution C T intron_variant LICA-FR 17 37049646 37049646 single base substitution A G intron_variant LICA-FR 17 37064372 37064372 single base substitution A C intron_variant LICA-FR 17 37066186 37066186 single base substitution A G intron_variant LICA-FR 17 37066186 37066186 single base substitution A G upstream_gene_variant LICA-FR 17 37072766 37072766 single base substitution G A 3_prime_UTR_variant LICA-FR 17 37072766 37072766 single base substitution G A downstream_gene_variant LICA-FR 17 37072766 37072766 single base substitution G A intron_variant LICA-FR 17 37074882 37074882 single base substitution T A 3_prime_UTR_variant LICA-FR 17 37074882 37074882 single base substitution T A downstream_gene_variant LICA-FR 17 37074882 37074882 single base substitution T A missense_variant Y157N 469T>A LICA-FR 17 37074882 37074882 single base substitution T A missense_variant Y213N 637T>A LINC-JP 17 37022487 37022487 deletion of <=200bp T - upstream_gene_variant LINC-JP 17 37026160 37026160 deletion of <=200bp C - 5_prime_UTR_variant LINC-JP 17 37026160 37026160 deletion of <=200bp C - upstream_gene_variant LINC-JP 17 37026502 37026502 single base substitution T A 5_prime_UTR_variant LINC-JP 17 37026502 37026502 single base substitution T A exon_variant LINC-JP 17 37026502 37026502 single base substitution T A stop_gained C20* 60T>A LINC-JP 17 37026502 37026502 single base substitution T A upstream_gene_variant LINC-JP 17 37028357 37028357 single base substitution C T intron_variant LINC-JP 17 37028357 37028357 single base substitution C T upstream_gene_variant LINC-JP 17 37044500 37044500 single base substitution A G intron_variant LINC-JP 17 37044500 37044500 single base substitution A G upstream_gene_variant LINC-JP 17 37046643 37046643 single base substitution C T exon_variant LINC-JP 17 37046643 37046643 single base substitution C T intron_variant LINC-JP 17 37057720 37057721 deletion of <=200bp CT - downstream_gene_variant LINC-JP 17 37057720 37057721 deletion of <=200bp CT - intron_variant LINC-JP 17 37059950 37059950 single base substitution C A downstream_gene_variant LINC-JP 17 37059950 37059950 single base substitution C A intron_variant LINC-JP 17 37062104 37062104 single base substitution G A intron_variant LINC-JP 17 37074920 37074920 single base substitution C T 3_prime_UTR_variant LINC-JP 17 37074920 37074920 single base substitution C T downstream_gene_variant LINC-JP 17 37074920 37074920 single base substitution C T synonymous_variant D169D 507C>T LINC-JP 17 37074920 37074920 single base substitution C T synonymous_variant D225D 675C>T LIRI-JP 17 37023542 37023542 single base substitution C T upstream_gene_variant LIRI-JP 17 37027474 37027474 single base substitution C T intron_variant LIRI-JP 17 37027474 37027474 single base substitution C T upstream_gene_variant LIRI-JP 17 37028416 37028416 single base substitution A G intron_variant LIRI-JP 17 37028416 37028416 single base substitution A G upstream_gene_variant LIRI-JP 17 37029575 37029575 single base substitution C G intron_variant LIRI-JP 17 37029575 37029575 single base substitution C G upstream_gene_variant LIRI-JP 17 37029603 37029603 single base substitution T C intron_variant LIRI-JP 17 37029603 37029603 single base substitution T C upstream_gene_variant LIRI-JP 17 37033027 37033027 single base substitution C A intron_variant LIRI-JP 17 37033092 37033092 single base substitution A G intron_variant LIRI-JP 17 37036857 37036857 single base substitution G T intron_variant LIRI-JP 17 37037469 37037469 single base substitution G A intron_variant LIRI-JP 17 37038350 37038350 single base substitution G A intron_variant LIRI-JP 17 37039111 37039111 single base substitution C T intron_variant LIRI-JP 17 37039483 37039483 single base substitution A G intron_variant LIRI-JP 17 37043421 37043421 single base substitution T C intron_variant LIRI-JP 17 37043421 37043421 single base substitution T C upstream_gene_variant LIRI-JP 17 37043579 37043579 single base substitution C T intron_variant LIRI-JP 17 37043579 37043579 single base substitution C T upstream_gene_variant LIRI-JP 17 37044450 37044450 single base substitution A G intron_variant LIRI-JP 17 37044450 37044450 single base substitution A G upstream_gene_variant LIRI-JP 17 37045494 37045494 single base substitution C T intron_variant LIRI-JP 17 37045494 37045494 single base substitution C T upstream_gene_variant LIRI-JP 17 37049949 37049949 single base substitution A G intron_variant LIRI-JP 17 37051323 37051323 single base substitution A G intron_variant LIRI-JP 17 37055073 37055078 deletion of <=200bp CGGTGA - exon_variant LIRI-JP 17 37055073 37055078 deletion of <=200bp CGGTGA - intron_variant LIRI-JP 17 37061425 37061425 single base substitution A G intron_variant LIRI-JP 17 37061515 37061515 single base substitution T G intron_variant LIRI-JP 17 37062737 37062737 single base substitution G A intron_variant LIRI-JP 17 37063690 37063702 deletion of <=200bp CTGTCTAGCTGTG - intron_variant LIRI-JP 17 37063812 37063812 single base substitution A G intron_variant LIRI-JP 17 37066015 37066015 single base substitution T C intron_variant LIRI-JP 17 37066015 37066015 single base substitution T C upstream_gene_variant LIRI-JP 17 37068987 37068987 single base substitution A G intron_variant LIRI-JP 17 37068987 37068987 single base substitution A G upstream_gene_variant LIRI-JP 17 37069186 37069186 single base substitution C T intron_variant LIRI-JP 17 37069186 37069186 single base substitution C T upstream_gene_variant LIRI-JP 17 37069268 37069268 single base substitution G T intron_variant LIRI-JP 17 37069268 37069268 single base substitution G T upstream_gene_variant LIRI-JP 17 37074964 37074964 single base substitution T A 3_prime_UTR_variant LIRI-JP 17 37074964 37074964 single base substitution T A downstream_gene_variant LIRI-JP 17 37074964 37074964 single base substitution T A missense_variant M184K 551T>A LIRI-JP 17 37074964 37074964 single base substitution T A missense_variant M240K 719T>A LIRI-JP 17 37076519 37076519 single base substitution T C 3_prime_UTR_variant LIRI-JP 17 37076519 37076519 single base substitution T C downstream_gene_variant LIRI-JP 17 37076519 37076519 single base substitution T C intron_variant LIRI-JP 17 37076578 37076578 single base substitution C A 3_prime_UTR_variant LIRI-JP 17 37076578 37076578 single base substitution C A downstream_gene_variant LIRI-JP 17 37077821 37077821 single base substitution A G 3_prime_UTR_variant LIRI-JP 17 37077821 37077821 single base substitution A G downstream_gene_variant LIRI-JP 17 37078240 37078240 single base substitution A G downstream_gene_variant LIRI-JP 17 37079269 37079272 deletion of <=200bp TAAT - downstream_gene_variant LIRI-JP 17 37079360 37079360 single base substitution C T downstream_gene_variant LUSC-KR 17 37021591 37021591 single base substitution C A upstream_gene_variant LUSC-KR 17 37023936 37023936 single base substitution C T upstream_gene_variant LUSC-KR 17 37031479 37031479 single base substitution G T intron_variant LUSC-KR 17 37033058 37033058 single base substitution C A intron_variant LUSC-KR 17 37037550 37037550 single base substitution A T intron_variant LUSC-KR 17 37049456 37049456 single base substitution G T intron_variant LUSC-KR 17 37062779 37062779 single base substitution C G intron_variant LUSC-KR 17 37065305 37065305 single base substitution G A intron_variant LUSC-KR 17 37075758 37075758 single base substitution G A 3_prime_UTR_variant LUSC-KR 17 37075758 37075758 single base substitution G A downstream_gene_variant LUSC-KR 17 37078457 37078457 single base substitution A T downstream_gene_variant LUSC-KR 17 37082605 37082605 single base substitution G T downstream_gene_variant MALY-DE 17 37023797 37023797 single base substitution A T upstream_gene_variant MALY-DE 17 37024773 37024773 single base substitution A T upstream_gene_variant MALY-DE 17 37025620 37025620 single base substitution C T upstream_gene_variant MALY-DE 17 37031407 37031407 single base substitution G T intron_variant MALY-DE 17 37035067 37035067 single base substitution G C intron_variant MALY-DE 17 37042335 37042336 deletion of <=200bp CT - intron_variant MALY-DE 17 37042335 37042336 deletion of <=200bp CT - upstream_gene_variant MALY-DE 17 37042383 37042384 deletion of <=200bp CT - intron_variant MALY-DE 17 37042383 37042384 deletion of <=200bp CT - upstream_gene_variant MALY-DE 17 37048805 37048806 deletion of <=200bp AC - intron_variant MALY-DE 17 37049213 37049214 deletion of <=200bp TG - intron_variant MALY-DE 17 37053441 37053441 single base substitution G A intron_variant MALY-DE 17 37058383 37058383 single base substitution C T downstream_gene_variant MALY-DE 17 37058383 37058383 single base substitution C T intron_variant MALY-DE 17 37059282 37059282 single base substitution C T downstream_gene_variant MALY-DE 17 37059282 37059282 single base substitution C T intron_variant MALY-DE 17 37074489 37074489 single base substitution C A downstream_gene_variant MALY-DE 17 37074489 37074489 single base substitution C A intron_variant MELA-AU 17 37021136 37021136 single base substitution C T upstream_gene_variant MELA-AU 17 37021216 37021216 single base substitution G A upstream_gene_variant MELA-AU 17 37021591 37021591 single base substitution C T upstream_gene_variant MELA-AU 17 37021609 37021609 single base substitution G A upstream_gene_variant MELA-AU 17 37022013 37022013 single base substitution G A upstream_gene_variant MELA-AU 17 37022151 37022151 single base substitution G A upstream_gene_variant MELA-AU 17 37022782 37022782 single base substitution A G upstream_gene_variant MELA-AU 17 37022890 37022890 single base substitution C T upstream_gene_variant MELA-AU 17 37023146 37023146 single base substitution C T upstream_gene_variant MELA-AU 17 37023645 37023645 single base substitution C A upstream_gene_variant MELA-AU 17 37023793 37023793 single base substitution C A upstream_gene_variant MELA-AU 17 37023833 37023833 single base substitution G A upstream_gene_variant MELA-AU 17 37024748 37024748 single base substitution G A upstream_gene_variant MELA-AU 17 37024819 37024819 single base substitution G A upstream_gene_variant MELA-AU 17 37025386 37025386 single base substitution C T upstream_gene_variant MELA-AU 17 37025887 37025887 single base substitution G A upstream_gene_variant MELA-AU 17 37029720 37029720 single base substitution G T intron_variant MELA-AU 17 37029720 37029720 single base substitution G T upstream_gene_variant MELA-AU 17 37030146 37030146 single base substitution C T 5_prime_UTR_variant MELA-AU 17 37030146 37030146 single base substitution C T intron_variant MELA-AU 17 37030702 37030702 single base substitution T A intron_variant MELA-AU 17 37030710 37030710 single base substitution C T intron_variant MELA-AU 17 37031170 37031170 single base substitution C T intron_variant MELA-AU 17 37032287 37032287 single base substitution G A intron_variant MELA-AU 17 37032813 37032813 single base substitution C T intron_variant MELA-AU 17 37033211 37033211 single base substitution C T intron_variant MELA-AU 17 37034385 37034385 single base substitution T C exon_variant MELA-AU 17 37034385 37034385 single base substitution T C missense_variant L39P 116T>C MELA-AU 17 37034385 37034385 single base substitution T C missense_variant L3P 8T>C MELA-AU 17 37034385 37034385 single base substitution T C synonymous_variant T11T 33T>C MELA-AU 17 37036349 37036349 single base substitution C T intron_variant MELA-AU 17 37036941 37036941 single base substitution T A intron_variant MELA-AU 17 37037393 37037393 single base substitution C T intron_variant MELA-AU 17 37039448 37039448 single base substitution C T intron_variant MELA-AU 17 37040751 37040751 single base substitution C T intron_variant MELA-AU 17 37041542 37041542 single base substitution T G intron_variant MELA-AU 17 37041542 37041542 single base substitution T G upstream_gene_variant MELA-AU 17 37041681 37041681 single base substitution C T intron_variant MELA-AU 17 37041681 37041681 single base substitution C T upstream_gene_variant MELA-AU 17 37041848 37041850 multiple base substitution (>=2bp and <=200bp) GGA AAC intron_variant MELA-AU 17 37041848 37041850 multiple base substitution (>=2bp and <=200bp) GGA AAC upstream_gene_variant MELA-AU 17 37042524 37042524 single base substitution C T intron_variant MELA-AU 17 37042524 37042524 single base substitution C T upstream_gene_variant MELA-AU 17 37042574 37042574 single base substitution G A intron_variant MELA-AU 17 37042574 37042574 single base substitution G A upstream_gene_variant MELA-AU 17 37042781 37042781 single base substitution C T intron_variant MELA-AU 17 37042781 37042781 single base substitution C T upstream_gene_variant MELA-AU 17 37042909 37042909 single base substitution C T intron_variant MELA-AU 17 37042909 37042909 single base substitution C T upstream_gene_variant MELA-AU 17 37043468 37043468 single base substitution C T intron_variant MELA-AU 17 37043468 37043468 single base substitution C T upstream_gene_variant MELA-AU 17 37044328 37044328 single base substitution C T intron_variant MELA-AU 17 37044328 37044328 single base substitution C T upstream_gene_variant MELA-AU 17 37044499 37044499 single base substitution G C intron_variant MELA-AU 17 37044499 37044499 single base substitution G C upstream_gene_variant MELA-AU 17 37044922 37044922 single base substitution C T intron_variant MELA-AU 17 37044922 37044922 single base substitution C T upstream_gene_variant MELA-AU 17 37045316 37045316 single base substitution T C intron_variant MELA-AU 17 37045316 37045316 single base substitution T C upstream_gene_variant MELA-AU 17 37045818 37045819 multiple base substitution (>=2bp and <=200bp) TC GG intron_variant MELA-AU 17 37045818 37045819 multiple base substitution (>=2bp and <=200bp) TC GG upstream_gene_variant MELA-AU 17 37046517 37046518 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 17 37046517 37046518 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 37046628 37046628 single base substitution C T exon_variant MELA-AU 17 37046628 37046628 single base substitution C T intron_variant MELA-AU 17 37046952 37046952 single base substitution C T intron_variant MELA-AU 17 37046953 37046953 single base substitution C T intron_variant MELA-AU 17 37047053 37047053 single base substitution C T intron_variant MELA-AU 17 37047376 37047376 single base substitution C T intron_variant MELA-AU 17 37048478 37048478 single base substitution G A intron_variant MELA-AU 17 37049378 37049378 single base substitution T C intron_variant MELA-AU 17 37050540 37050540 single base substitution C T intron_variant MELA-AU 17 37052295 37052295 single base substitution C T intron_variant MELA-AU 17 37052442 37052442 single base substitution C T intron_variant MELA-AU 17 37052668 37052668 single base substitution C A intron_variant MELA-AU 17 37053019 37053019 single base substitution C T intron_variant MELA-AU 17 37053435 37053435 single base substitution G A intron_variant MELA-AU 17 37053495 37053495 single base substitution C T intron_variant MELA-AU 17 37054044 37054044 single base substitution C T intron_variant MELA-AU 17 37054237 37054237 single base substitution A G intron_variant MELA-AU 17 37054799 37054799 single base substitution T G exon_variant MELA-AU 17 37054799 37054799 single base substitution T G intron_variant MELA-AU 17 37055978 37055978 single base substitution C T downstream_gene_variant MELA-AU 17 37055978 37055978 single base substitution C T intron_variant MELA-AU 17 37056193 37056193 single base substitution G A downstream_gene_variant MELA-AU 17 37056193 37056193 single base substitution G A intron_variant MELA-AU 17 37056753 37056753 single base substitution C T downstream_gene_variant MELA-AU 17 37056753 37056753 single base substitution C T intron_variant MELA-AU 17 37056977 37056977 single base substitution A T downstream_gene_variant MELA-AU 17 37056977 37056977 single base substitution A T intron_variant MELA-AU 17 37057252 37057253 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 37057252 37057253 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 37057308 37057308 single base substitution C T downstream_gene_variant MELA-AU 17 37057308 37057308 single base substitution C T intron_variant MELA-AU 17 37058345 37058345 single base substitution C T downstream_gene_variant MELA-AU 17 37058345 37058345 single base substitution C T intron_variant MELA-AU 17 37058437 37058437 single base substitution C T downstream_gene_variant MELA-AU 17 37058437 37058437 single base substitution C T intron_variant MELA-AU 17 37058571 37058572 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 37058571 37058572 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 37059552 37059552 single base substitution C T downstream_gene_variant MELA-AU 17 37059552 37059552 single base substitution C T intron_variant MELA-AU 17 37060567 37060567 single base substitution C T intron_variant MELA-AU 17 37060996 37060996 single base substitution T A intron_variant MELA-AU 17 37061107 37061107 single base substitution C T intron_variant MELA-AU 17 37061294 37061294 single base substitution A T intron_variant MELA-AU 17 37061507 37061507 single base substitution C G intron_variant MELA-AU 17 37061739 37061739 single base substitution G C intron_variant MELA-AU 17 37061845 37061845 single base substitution C T intron_variant MELA-AU 17 37062171 37062171 single base substitution T C intron_variant MELA-AU 17 37062496 37062496 single base substitution T A intron_variant MELA-AU 17 37063192 37063192 single base substitution C T intron_variant MELA-AU 17 37063395 37063395 single base substitution C T intron_variant MELA-AU 17 37063495 37063495 single base substitution C T intron_variant MELA-AU 17 37064095 37064095 single base substitution G A intron_variant MELA-AU 17 37064202 37064202 single base substitution G A intron_variant MELA-AU 17 37064744 37064744 single base substitution C T intron_variant MELA-AU 17 37065176 37065176 single base substitution C T intron_variant MELA-AU 17 37065657 37065657 single base substitution C T intron_variant MELA-AU 17 37065657 37065657 single base substitution C T upstream_gene_variant MELA-AU 17 37066703 37066703 single base substitution T A intron_variant MELA-AU 17 37066703 37066703 single base substitution T A upstream_gene_variant MELA-AU 17 37066735 37066735 single base substitution A T intron_variant MELA-AU 17 37066735 37066735 single base substitution A T upstream_gene_variant MELA-AU 17 37066859 37066859 single base substitution G A intron_variant MELA-AU 17 37066859 37066859 single base substitution G A upstream_gene_variant MELA-AU 17 37067320 37067320 single base substitution C T intron_variant MELA-AU 17 37067320 37067320 single base substitution C T upstream_gene_variant MELA-AU 17 37067601 37067601 single base substitution C T intron_variant MELA-AU 17 37067601 37067601 single base substitution C T upstream_gene_variant MELA-AU 17 37067625 37067625 single base substitution C T intron_variant MELA-AU 17 37067625 37067625 single base substitution C T upstream_gene_variant MELA-AU 17 37067964 37067964 single base substitution C T intron_variant MELA-AU 17 37067964 37067964 single base substitution C T upstream_gene_variant MELA-AU 17 37067996 37067996 single base substitution C T intron_variant MELA-AU 17 37067996 37067996 single base substitution C T upstream_gene_variant MELA-AU 17 37068167 37068167 single base substitution C T intron_variant MELA-AU 17 37068167 37068167 single base substitution C T upstream_gene_variant MELA-AU 17 37068466 37068466 single base substitution C T intron_variant MELA-AU 17 37068466 37068466 single base substitution C T upstream_gene_variant MELA-AU 17 37069006 37069006 single base substitution C T intron_variant MELA-AU 17 37069006 37069006 single base substitution C T upstream_gene_variant MELA-AU 17 37072036 37072036 single base substitution C T 3_prime_UTR_variant MELA-AU 17 37072036 37072036 single base substitution C T downstream_gene_variant MELA-AU 17 37072036 37072036 single base substitution C T intron_variant MELA-AU 17 37072494 37072494 single base substitution T G 3_prime_UTR_variant MELA-AU 17 37072494 37072494 single base substitution T G downstream_gene_variant MELA-AU 17 37072494 37072494 single base substitution T G intron_variant MELA-AU 17 37072743 37072743 single base substitution C T 3_prime_UTR_variant MELA-AU 17 37072743 37072743 single base substitution C T downstream_gene_variant MELA-AU 17 37072743 37072743 single base substitution C T intron_variant MELA-AU 17 37072885 37072885 deletion of <=200bp T - 3_prime_UTR_variant MELA-AU 17 37072885 37072885 deletion of <=200bp T - downstream_gene_variant MELA-AU 17 37072885 37072885 deletion of <=200bp T - intron_variant MELA-AU 17 37072904 37072904 single base substitution C T 3_prime_UTR_variant MELA-AU 17 37072904 37072904 single base substitution C T downstream_gene_variant MELA-AU 17 37072904 37072904 single base substitution C T intron_variant MELA-AU 17 37073109 37073109 single base substitution C T downstream_gene_variant MELA-AU 17 37073109 37073109 single base substitution C T intron_variant MELA-AU 17 37073373 37073373 single base substitution C T downstream_gene_variant MELA-AU 17 37073373 37073373 single base substitution C T intron_variant MELA-AU 17 37073422 37073422 single base substitution G A downstream_gene_variant MELA-AU 17 37073422 37073422 single base substitution G A intron_variant MELA-AU 17 37073457 37073457 single base substitution G A downstream_gene_variant MELA-AU 17 37073457 37073457 single base substitution G A intron_variant MELA-AU 17 37073662 37073662 single base substitution C T downstream_gene_variant MELA-AU 17 37073662 37073662 single base substitution C T intron_variant MELA-AU 17 37073687 37073687 single base substitution C T downstream_gene_variant MELA-AU 17 37073687 37073687 single base substitution C T intron_variant MELA-AU 17 37073874 37073874 single base substitution C T downstream_gene_variant MELA-AU 17 37073874 37073874 single base substitution C T intron_variant MELA-AU 17 37074451 37074451 single base substitution C T downstream_gene_variant MELA-AU 17 37074451 37074451 single base substitution C T intron_variant MELA-AU 17 37074738 37074738 single base substitution C T downstream_gene_variant MELA-AU 17 37074738 37074738 single base substitution C T intron_variant MELA-AU 17 37074783 37074783 single base substitution G A downstream_gene_variant MELA-AU 17 37074783 37074783 single base substitution G A intron_variant MELA-AU 17 37074971 37074971 single base substitution G A 3_prime_UTR_variant MELA-AU 17 37074971 37074971 single base substitution G A downstream_gene_variant MELA-AU 17 37074971 37074971 single base substitution G A synonymous_variant G186G 558G>A MELA-AU 17 37074971 37074971 single base substitution G A synonymous_variant G242G 726G>A MELA-AU 17 37075566 37075566 single base substitution C T 3_prime_UTR_variant MELA-AU 17 37075566 37075566 single base substitution C T downstream_gene_variant MELA-AU 17 37075789 37075789 single base substitution T C 3_prime_UTR_variant MELA-AU 17 37075789 37075789 single base substitution T C downstream_gene_variant MELA-AU 17 37076282 37076282 single base substitution C T 3_prime_UTR_variant MELA-AU 17 37076282 37076282 single base substitution C T downstream_gene_variant MELA-AU 17 37076282 37076282 single base substitution C T intron_variant MELA-AU 17 37076311 37076311 single base substitution C T 3_prime_UTR_variant MELA-AU 17 37076311 37076311 single base substitution C T downstream_gene_variant MELA-AU 17 37076311 37076311 single base substitution C T intron_variant MELA-AU 17 37076537 37076537 single base substitution G A 3_prime_UTR_variant MELA-AU 17 37076537 37076537 single base substitution G A downstream_gene_variant MELA-AU 17 37076537 37076537 single base substitution G A intron_variant MELA-AU 17 37076578 37076578 single base substitution C T 3_prime_UTR_variant MELA-AU 17 37076578 37076578 single base substitution C T downstream_gene_variant MELA-AU 17 37076742 37076742 single base substitution G A 3_prime_UTR_variant MELA-AU 17 37076742 37076742 single base substitution G A downstream_gene_variant MELA-AU 17 37076981 37076981 single base substitution C T 3_prime_UTR_variant MELA-AU 17 37076981 37076981 single base substitution C T downstream_gene_variant MELA-AU 17 37077062 37077062 single base substitution C T 3_prime_UTR_variant MELA-AU 17 37077062 37077062 single base substitution C T downstream_gene_variant MELA-AU 17 37078762 37078762 single base substitution C T downstream_gene_variant MELA-AU 17 37079616 37079616 single base substitution G T downstream_gene_variant MELA-AU 17 37079949 37079949 single base substitution A T downstream_gene_variant MELA-AU 17 37080493 37080493 single base substitution G A downstream_gene_variant MELA-AU 17 37080579 37080579 single base substitution C T downstream_gene_variant MELA-AU 17 37080819 37080819 single base substitution C T downstream_gene_variant MELA-AU 17 37080831 37080831 single base substitution C T downstream_gene_variant MELA-AU 17 37081205 37081205 single base substitution C T downstream_gene_variant MELA-AU 17 37081395 37081395 single base substitution C T downstream_gene_variant MELA-AU 17 37081743 37081743 single base substitution T C downstream_gene_variant MELA-AU 17 37081917 37081917 single base substitution C T downstream_gene_variant MELA-AU 17 37082142 37082142 single base substitution C T downstream_gene_variant MELA-AU 17 37082667 37082667 single base substitution C A downstream_gene_variant MELA-AU 17 37083002 37083002 single base substitution C G downstream_gene_variant ORCA-IN 17 37025542 37025542 single base substitution T C upstream_gene_variant ORCA-IN 17 37042343 37042343 single base substitution C G intron_variant ORCA-IN 17 37042343 37042343 single base substitution C G upstream_gene_variant OV-AU 17 37034098 37034098 single base substitution C G intron_variant OV-AU 17 37034987 37034987 single base substitution G A intron_variant OV-AU 17 37046747 37046747 single base substitution T C exon_variant OV-AU 17 37046747 37046747 single base substitution T C intron_variant OV-AU 17 37046747 37046747 single base substitution T C missense_variant L44P 131T>C OV-AU 17 37046747 37046747 single base substitution T C missense_variant L80P 239T>C OV-AU 17 37047000 37047000 single base substitution C G intron_variant OV-AU 17 37064682 37064682 single base substitution A G intron_variant OV-AU 17 37065996 37065996 single base substitution A T intron_variant OV-AU 17 37065996 37065996 single base substitution A T upstream_gene_variant OV-AU 17 37071820 37071820 single base substitution G T 3_prime_UTR_variant OV-AU 17 37071820 37071820 single base substitution G T downstream_gene_variant OV-AU 17 37071820 37071820 single base substitution G T intron_variant OV-AU 17 37074867 37074867 single base substitution C T 3_prime_UTR_variant OV-AU 17 37074867 37074867 single base substitution C T downstream_gene_variant OV-AU 17 37074867 37074867 single base substitution C T missense_variant R152C 454C>T OV-AU 17 37074867 37074867 single base substitution C T missense_variant R208C 622C>T OV-AU 17 37076429 37076429 single base substitution C A 3_prime_UTR_variant OV-AU 17 37076429 37076429 single base substitution C A downstream_gene_variant OV-AU 17 37076429 37076429 single base substitution C A intron_variant OV-AU 17 37077374 37077374 single base substitution G A 3_prime_UTR_variant OV-AU 17 37077374 37077374 single base substitution G A downstream_gene_variant OV-AU 17 37079974 37079974 single base substitution C G downstream_gene_variant OV-AU 17 37082536 37082536 single base substitution G C downstream_gene_variant PACA-AU 17 37021201 37021201 single base substitution G C upstream_gene_variant PACA-AU 17 37022708 37022708 single base substitution C T upstream_gene_variant PACA-AU 17 37042748 37042748 single base substitution T G intron_variant PACA-AU 17 37042748 37042748 single base substitution T G upstream_gene_variant PACA-AU 17 37043838 37043838 single base substitution C T intron_variant PACA-AU 17 37043838 37043838 single base substitution C T upstream_gene_variant PACA-AU 17 37050644 37050644 single base substitution C T intron_variant PACA-AU 17 37052232 37052232 single base substitution G A intron_variant PACA-AU 17 37054859 37054859 single base substitution T C exon_variant PACA-AU 17 37054859 37054859 single base substitution T C intron_variant PACA-AU 17 37061441 37061441 single base substitution A G intron_variant PACA-AU 17 37072539 37072539 insertion of <=200bp - GT 3_prime_UTR_variant PACA-AU 17 37072539 37072539 insertion of <=200bp - GT downstream_gene_variant PACA-AU 17 37072539 37072539 insertion of <=200bp - GT intron_variant PACA-AU 17 37076862 37076862 single base substitution A G 3_prime_UTR_variant PACA-AU 17 37076862 37076862 single base substitution A G downstream_gene_variant PACA-AU 17 37080031 37080031 single base substitution C T downstream_gene_variant PACA-AU 17 37080662 37080662 single base substitution T C downstream_gene_variant PACA-CA 17 37022535 37022535 single base substitution C T upstream_gene_variant PACA-CA 17 37022630 37022630 single base substitution C T upstream_gene_variant PACA-CA 17 37023206 37023206 single base substitution C T upstream_gene_variant PACA-CA 17 37024711 37024711 single base substitution T G upstream_gene_variant PACA-CA 17 37025455 37025455 single base substitution T C upstream_gene_variant PACA-CA 17 37026725 37026725 single base substitution C G intron_variant PACA-CA 17 37026725 37026725 single base substitution C G upstream_gene_variant PACA-CA 17 37028327 37028327 single base substitution A T intron_variant PACA-CA 17 37028327 37028327 single base substitution A T upstream_gene_variant PACA-CA 17 37029002 37029030 deletion of <=200bp CTCAGCCCACTACGTGGCCCAAAGCACAG - intron_variant PACA-CA 17 37029002 37029030 deletion of <=200bp CTCAGCCCACTACGTGGCCCAAAGCACAG - upstream_gene_variant PACA-CA 17 37029230 37029230 single base substitution C A intron_variant PACA-CA 17 37029230 37029230 single base substitution C A upstream_gene_variant PACA-CA 17 37029693 37029693 single base substitution C T intron_variant PACA-CA 17 37029693 37029693 single base substitution C T upstream_gene_variant PACA-CA 17 37031637 37031637 single base substitution G T intron_variant PACA-CA 17 37031864 37031864 single base substitution C G intron_variant PACA-CA 17 37031864 37031864 single base substitution C T intron_variant PACA-CA 17 37038515 37038515 deletion of <=200bp T - intron_variant PACA-CA 17 37039625 37039625 insertion of <=200bp - T intron_variant PACA-CA 17 37042414 37042414 single base substitution G A intron_variant PACA-CA 17 37042414 37042414 single base substitution G A upstream_gene_variant PACA-CA 17 37046131 37046131 single base substitution T A intron_variant PACA-CA 17 37046131 37046131 single base substitution T A upstream_gene_variant PACA-CA 17 37049244 37049244 single base substitution G A intron_variant PACA-CA 17 37051955 37051955 single base substitution A G intron_variant PACA-CA 17 37054114 37054114 single base substitution G T intron_variant PACA-CA 17 37054166 37054166 single base substitution C G intron_variant PACA-CA 17 37054764 37054764 single base substitution A T 3_prime_UTR_variant PACA-CA 17 37054764 37054764 single base substitution A T exon_variant PACA-CA 17 37054764 37054764 single base substitution A T missense_variant I117F 349A>T PACA-CA 17 37054764 37054764 single base substitution A T missense_variant I61F 181A>T PACA-CA 17 37054764 37054764 single base substitution A T missense_variant I81F 241A>T PACA-CA 17 37055150 37055150 single base substitution C T exon_variant PACA-CA 17 37055150 37055150 single base substitution C T intron_variant PACA-CA 17 37056085 37056085 single base substitution C T downstream_gene_variant PACA-CA 17 37056085 37056085 single base substitution C T intron_variant PACA-CA 17 37059786 37059786 deletion of <=200bp T - downstream_gene_variant PACA-CA 17 37059786 37059786 deletion of <=200bp T - intron_variant PACA-CA 17 37061308 37061308 single base substitution T C intron_variant PACA-CA 17 37061834 37061834 single base substitution G A intron_variant PACA-CA 17 37062851 37062851 deletion of <=200bp A - intron_variant PACA-CA 17 37063212 37063212 single base substitution T G intron_variant PACA-CA 17 37066994 37066994 single base substitution T A intron_variant PACA-CA 17 37066994 37066994 single base substitution T A upstream_gene_variant PACA-CA 17 37068560 37068560 single base substitution C T intron_variant PACA-CA 17 37068560 37068560 single base substitution C T upstream_gene_variant PACA-CA 17 37070689 37070689 single base substitution G A 3_prime_UTR_variant PACA-CA 17 37070689 37070689 single base substitution G A exon_variant PACA-CA 17 37070689 37070689 single base substitution G A missense_variant E101K 301G>A PACA-CA 17 37070689 37070689 single base substitution G A missense_variant E121K 361G>A PACA-CA 17 37070689 37070689 single base substitution G A missense_variant E14K 40G>A PACA-CA 17 37070689 37070689 single base substitution G A missense_variant E157K 469G>A PACA-CA 17 37073917 37073917 single base substitution T C downstream_gene_variant PACA-CA 17 37073917 37073917 single base substitution T C intron_variant PACA-CA 17 37074864 37074864 single base substitution T C 3_prime_UTR_variant PACA-CA 17 37074864 37074864 single base substitution T C downstream_gene_variant PACA-CA 17 37074864 37074864 single base substitution T C missense_variant Y151H 451T>C PACA-CA 17 37074864 37074864 single base substitution T C missense_variant Y207H 619T>C PACA-CA 17 37075645 37075645 single base substitution C T 3_prime_UTR_variant PACA-CA 17 37075645 37075645 single base substitution C T downstream_gene_variant PACA-CA 17 37076181 37076181 single base substitution G T 3_prime_UTR_variant PACA-CA 17 37076181 37076181 single base substitution G T downstream_gene_variant PACA-CA 17 37078846 37078846 single base substitution C T downstream_gene_variant PACA-CA 17 37079058 37079058 single base substitution C G downstream_gene_variant PACA-CA 17 37080465 37080465 single base substitution T C downstream_gene_variant PAEN-AU 17 37027706 37027706 single base substitution C T intron_variant PAEN-AU 17 37027706 37027706 single base substitution C T upstream_gene_variant PAEN-AU 17 37060865 37060865 single base substitution G A intron_variant PAEN-IT 17 37023237 37023237 single base substitution G T upstream_gene_variant PAEN-IT 17 37032738 37032738 single base substitution C T intron_variant PAEN-IT 17 37050312 37050312 single base substitution G A intron_variant PAEN-IT 17 37062508 37062508 single base substitution C T intron_variant PBCA-DE 17 37023984 37023984 insertion of <=200bp - T upstream_gene_variant PBCA-DE 17 37029069 37029069 single base substitution C T intron_variant PBCA-DE 17 37029069 37029069 single base substitution C T upstream_gene_variant PBCA-DE 17 37034694 37034694 single base substitution G T intron_variant PBCA-DE 17 37050371 37050371 single base substitution G T intron_variant PBCA-DE 17 37055234 37055234 single base substitution A C exon_variant PBCA-DE 17 37055234 37055234 single base substitution A C intron_variant PBCA-DE 17 37056634 37056634 insertion of <=200bp - AAAAAAAA downstream_gene_variant PBCA-DE 17 37056634 37056634 insertion of <=200bp - AAAAAAAA intron_variant PBCA-DE 17 37062781 37062784 deletion of <=200bp AAAT - intron_variant PBCA-DE 17 37064165 37064165 single base substitution T G intron_variant PBCA-DE 17 37070091 37070091 single base substitution T C intron_variant PBCA-DE 17 37070091 37070091 single base substitution T C upstream_gene_variant PBCA-DE 17 37078135 37078136 deletion of <=200bp TG - downstream_gene_variant PBCA-DE 17 37079903 37079903 insertion of <=200bp - AATA downstream_gene_variant PRAD-CA 17 37022501 37022501 single base substitution C T upstream_gene_variant PRAD-CA 17 37077311 37077311 single base substitution G C 3_prime_UTR_variant PRAD-CA 17 37077311 37077311 single base substitution G C downstream_gene_variant PRAD-UK 17 37023638 37023638 deletion of <=200bp T - upstream_gene_variant PRAD-UK 17 37023902 37023902 single base substitution G C upstream_gene_variant PRAD-UK 17 37033755 37033755 single base substitution C T intron_variant PRAD-UK 17 37035949 37035949 single base substitution A G intron_variant PRAD-UK 17 37043152 37043155 deletion of <=200bp TTTT - intron_variant PRAD-UK 17 37043152 37043155 deletion of <=200bp TTTT - upstream_gene_variant PRAD-US 17 37074903 37074903 single base substitution G T 3_prime_UTR_variant PRAD-US 17 37074903 37074903 single base substitution G T downstream_gene_variant PRAD-US 17 37074903 37074903 single base substitution G T stop_gained E164* 490G>T PRAD-US 17 37074903 37074903 single base substitution G T stop_gained E220* 658G>T RECA-EU 17 37052152 37052152 single base substitution C T intron_variant RECA-EU 17 37060799 37060799 single base substitution C A intron_variant RECA-EU 17 37061531 37061531 single base substitution C G intron_variant RECA-EU 17 37067048 37067048 single base substitution T A intron_variant RECA-EU 17 37067048 37067048 single base substitution T A upstream_gene_variant RECA-EU 17 37068271 37068271 single base substitution T C intron_variant RECA-EU 17 37068271 37068271 single base substitution T C upstream_gene_variant RECA-EU 17 37072592 37072592 single base substitution C A 3_prime_UTR_variant RECA-EU 17 37072592 37072592 single base substitution C A downstream_gene_variant RECA-EU 17 37072592 37072592 single base substitution C A intron_variant RECA-EU 17 37073932 37073932 single base substitution T A downstream_gene_variant RECA-EU 17 37073932 37073932 single base substitution T A intron_variant RECA-EU 17 37076044 37076044 single base substitution C T 3_prime_UTR_variant RECA-EU 17 37076044 37076044 single base substitution C T downstream_gene_variant SKCA-BR 17 37021415 37021419 deletion of <=200bp ATTTT - upstream_gene_variant SKCA-BR 17 37023028 37023028 insertion of <=200bp - AAAAC upstream_gene_variant SKCA-BR 17 37023638 37023638 single base substitution T G upstream_gene_variant SKCA-BR 17 37025200 37025200 single base substitution G A upstream_gene_variant SKCA-BR 17 37031309 37031311 deletion of <=200bp CGT - intron_variant SKCA-BR 17 37031343 37031343 single base substitution A T intron_variant SKCA-BR 17 37034107 37034107 single base substitution C T intron_variant SKCA-BR 17 37034477 37034477 single base substitution C T intron_variant SKCA-BR 17 37035414 37035414 insertion of <=200bp - CTT intron_variant SKCA-BR 17 37037718 37037718 single base substitution G T intron_variant SKCA-BR 17 37045133 37045134 deletion of <=200bp TG - intron_variant SKCA-BR 17 37045133 37045134 deletion of <=200bp TG - upstream_gene_variant SKCA-BR 17 37048660 37048660 single base substitution C T intron_variant SKCA-BR 17 37050013 37050013 single base substitution A C intron_variant SKCA-BR 17 37053175 37053175 single base substitution G A exon_variant SKCA-BR 17 37053175 37053175 single base substitution G A intron_variant SKCA-BR 17 37053566 37053566 single base substitution C T intron_variant SKCA-BR 17 37055264 37055264 single base substitution A C exon_variant SKCA-BR 17 37055264 37055264 single base substitution A C intron_variant SKCA-BR 17 37056476 37056476 single base substitution T A downstream_gene_variant SKCA-BR 17 37056476 37056476 single base substitution T A intron_variant SKCA-BR 17 37057289 37057289 single base substitution G A downstream_gene_variant SKCA-BR 17 37057289 37057289 single base substitution G A intron_variant SKCA-BR 17 37057371 37057371 single base substitution C T downstream_gene_variant SKCA-BR 17 37057371 37057371 single base substitution C T intron_variant SKCA-BR 17 37060449 37060449 single base substitution C T downstream_gene_variant SKCA-BR 17 37060449 37060449 single base substitution C T intron_variant SKCA-BR 17 37060862 37060862 single base substitution A G intron_variant SKCA-BR 17 37061783 37061784 deletion of <=200bp CA - intron_variant SKCA-BR 17 37064863 37064863 single base substitution G A intron_variant SKCA-BR 17 37067012 37067012 single base substitution G C intron_variant SKCA-BR 17 37067012 37067012 single base substitution G C upstream_gene_variant SKCA-BR 17 37067437 37067437 single base substitution T G intron_variant SKCA-BR 17 37067437 37067437 single base substitution T G upstream_gene_variant SKCA-BR 17 37067966 37067966 single base substitution C T intron_variant SKCA-BR 17 37067966 37067966 single base substitution C T upstream_gene_variant SKCA-BR 17 37068732 37068732 single base substitution G T intron_variant SKCA-BR 17 37068732 37068732 single base substitution G T upstream_gene_variant SKCA-BR 17 37070090 37070090 insertion of <=200bp - AC intron_variant SKCA-BR 17 37070090 37070090 insertion of <=200bp - AC upstream_gene_variant SKCA-BR 17 37070091 37070091 single base substitution T C intron_variant SKCA-BR 17 37070091 37070091 single base substitution T C upstream_gene_variant SKCA-BR 17 37071442 37071442 single base substitution T G downstream_gene_variant SKCA-BR 17 37071442 37071442 single base substitution T G intron_variant SKCA-BR 17 37071442 37071442 single base substitution T G missense_variant S76A 226T>G SKCA-BR 17 37076195 37076195 single base substitution T G 3_prime_UTR_variant SKCA-BR 17 37076195 37076195 single base substitution T G downstream_gene_variant SKCA-BR 17 37079902 37079910 deletion of <=200bp GAATAAATA - downstream_gene_variant SKCA-BR 17 37080879 37080879 single base substitution G A downstream_gene_variant SKCA-BR 17 37081454 37081454 single base substitution G A downstream_gene_variant SKCM-US 17 37070713 37070713 single base substitution C T 3_prime_UTR_variant SKCM-US 17 37070713 37070713 single base substitution C T exon_variant SKCM-US 17 37070713 37070713 single base substitution C T missense_variant P109S 325C>T SKCM-US 17 37070713 37070713 single base substitution C T missense_variant P129S 385C>T SKCM-US 17 37070713 37070713 single base substitution C T missense_variant P165S 493C>T SKCM-US 17 37070713 37070713 single base substitution C T missense_variant P22S 64C>T STAD-US 17 37075007 37075007 single base substitution G A 3_prime_UTR_variant STAD-US 17 37075007 37075007 single base substitution G A downstream_gene_variant STAD-US 17 37075007 37075007 single base substitution G A synonymous_variant P198P 594G>A STAD-US 17 37075007 37075007 single base substitution G A synonymous_variant P254P 762G>A THCA-SA 17 37026139 37026139 single base substitution C T 5_prime_UTR_variant THCA-SA 17 37026139 37026139 single base substitution C T upstream_gene_variant THCA-SA 17 37054772 37054772 single base substitution C T exon_variant THCA-SA 17 37054772 37054772 single base substitution C T splice_region_variant THCA-SA 17 37074932 37074932 single base substitution C T 3_prime_UTR_variant THCA-SA 17 37074932 37074932 single base substitution C T downstream_gene_variant THCA-SA 17 37074932 37074932 single base substitution C T synonymous_variant I173I 519C>T THCA-SA 17 37074932 37074932 single base substitution C T synonymous_variant I229I 687C>T THCA-SA 17 37075758 37075758 single base substitution G A 3_prime_UTR_variant THCA-SA 17 37075758 37075758 single base substitution G A downstream_gene_variant UCEC-US 17 37074861 37074861 single base substitution C T 3_prime_UTR_variant UCEC-US 17 37074861 37074861 single base substitution C T downstream_gene_variant UCEC-US 17 37074861 37074861 single base substitution C T missense_variant R150W 448C>T UCEC-US 17 37074861 37074861 single base substitution C T missense_variant R206W 616C>T UCEC-US 17 37074894 37074894 single base substitution G A 3_prime_UTR_variant UCEC-US 17 37074894 37074894 single base substitution G A downstream_gene_variant UCEC-US 17 37074894 37074894 single base substitution G A missense_variant D161N 481G>A UCEC-US 17 37074894 37074894 single base substitution G A missense_variant D217N 649G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HDC54 COSM4636343 c.693C>T p.N231N Substitution - coding silent 17:38918685-38918685 + sysucc-1370T COSM5470658 c.646G>A p.A216T Substitution - Missense 17:38918638-38918638 + YUKAT COSM5386188 c.457C>T p.R153W Substitution - Missense 17:38914424-38914424 + ESO-683 COSM1256336 c.717G>C p.W239C Substitution - Missense 17:38918709-38918709 + HDC101 COSM4635958 c.728C>T p.T243M Substitution - Missense 17:38918720-38918720 + CSCC-20-T COSM186116 c.164C>T p.A55V Substitution - Missense 17:38878180-38878180 + HCC36 COSM1610150 c.675C>T p.D225D Substitution - coding silent 17:38918667-38918667 + SNUH_G16_S1 COSM4000120 c.687C>T p.I229I Substitution - coding silent 17:38918679-38918679 + CHC1626T COSM4791690 c.637T>A p.Y213N Substitution - Missense 17:38918629-38918629 + RK134_C01 COSM3701202 c.719T>A p.M240K Substitution - Missense 17:38918711-38918711 + HCC66T COSM1610149 c.60T>A p.C20* Substitution - Nonsense 17:38870249-38870249 + TCGA-G9-6333-01 COSM3672425 c.658G>T p.E220* Substitution - Nonsense 17:38918650-38918650 + T3094 COSM4697485 c.621C>T p.Y207Y Substitution - coding silent 17:38918613-38918613 + TCGA-BH-A18P-01 COSM436473 c.326G>A p.R109K Substitution - Missense 17:38898488-38898488 + ESCC_BICR_045T COSM5441617 c.271G>A p.E91K Substitution - Missense 17:38898433-38898433 + AOCS-064-3-3 COSM3983403 c.239T>C p.L80P Substitution - Missense 17:38890494-38890494 + PD6733b COSM5785584 c.155A>G p.Y52C Substitution - Missense 17:38878171-38878171 + PTC-14C COSM4129934 c.189C>A p.T63T Substitution - coding silent 17:38890444-38890444 + PTC-7C COSM1382766 c.357C>T p.N119N Substitution - coding silent 17:38898519-38898519 + TCGA-IR-A3LI-01 COSM4846103 c.90C>G p.F30L Substitution - Missense 17:38878106-38878106 + LOVO COSM2837478 c.694G>A p.V232M Substitution - Missense 17:38918686-38918686 + AOCS-166-1-2 COSM3983404 c.622C>T p.R208C Substitution - Missense 17:38918614-38918614 + HCC36T COSM1610150 c.675C>T p.D225D Substitution - coding silent 17:38918667-38918667 + PTC-14C COSM4129933 c.188C>G p.T63S Substitution - Missense 17:38890443-38890443 + HCC66 COSM1610149 c.60T>A p.C20* Substitution - Nonsense 17:38870249-38870249 + STC252 COSM5055413 c.96C>T p.C32C Substitution - coding silent 17:38878112-38878112 + TCGA-CF-A1HR-01 COSM417567 c.247C>T p.Q83* Substitution - Nonsense 17:38890502-38890502 + CHC1626T COSM4791690 c.637T>A p.Y213N Substitution - Missense 17:38918629-38918629 + AOCS-064-1-6 COSM3983403 c.239T>C p.L80P Substitution - Missense 17:38890494-38890494 + TCGA-EE-A2GD-06 COSM3516732 c.493C>T p.P165S Substitution - Missense 17:38914460-38914460 + UM-SCC-17B COSM4598764 c.296G>T p.S99I Substitution - Missense 17:38898458-38898458 + PTC-10C COSM436474 c.438A>G p.S146S Substitution - coding silent 17:38914405-38914405 + LUAD-NYU847 COSM376662 c.484C>T p.H162Y Substitution - Missense 17:38914451-38914451 + YUKAT COSM5386187 c.268T>C p.F90L Substitution - Missense 17:38898430-38898430 + TCGA-DK-A1A7-01 COSM417568 c.19C>G p.R7G Substitution - Missense 17:38870208-38870208 + SNU-175 COSM2837472 c.394G>T p.G132C Substitution - Missense 17:38914361-38914361 + T3144 COSM4697484 c.19C>T p.R7W Substitution - Missense 17:38870208-38870208 + PCSI_0307_Pa_P_526 COSM3787319 c.469G>A p.E157K Substitution - Missense 17:38914436-38914436 + 3498_T COSM3958300 c.262G>C p.E88Q Substitution - Missense 17:38898424-38898424 + TCGA-AP-A051-01 COSM978512 c.616C>T p.R206W Substitution - Missense 17:38918608-38918608 + H1155 COSM1195558 c.626C>T p.A209V Substitution - Missense 17:38918618-38918618 + YUROG COSM5386189 c.617_618GG>AA p.R206Q Substitution - Missense 17:38918609-38918610 + PTC-14C COSM4129936 c.191T>C p.M64T Substitution - Missense 17:38890446-38890446 + PTC-28C COSM436474 c.438A>G p.S146S Substitution - coding silent 17:38914405-38914405 + LUAD-YINHD COSM349314 c.756G>T p.M252I Substitution - Missense 17:38918748-38918748 + TCGA-AG-3898-01 COSM288962 c.711C>T p.D237D Substitution - coding silent 17:38918703-38918703 + PTC-14C COSM4129935 c.190A>T p.M64L Substitution - Missense 17:38890445-38890445 + PT46 COSM5929738 c.249+5G>A p.? Unknown 17:38890509-38890509 + CSCC-20-T COSM4499290 c.539C>T p.A180V Substitution - Missense 17:38915073-38915073 + B86 COSM1749983 c.609C>T p.G203G Substitution - coding silent 17:38915143-38915143 + TCGA-AA-3697-01 COSM288962 c.711C>T p.D237D Substitution - coding silent 17:38918703-38918703 + TCGA-AP-A056-01 COSM978513 c.649G>A p.D217N Substitution - Missense 17:38918641-38918641 + TCGA-CG-4300-01 COSM2837481 c.762G>A p.P254P Substitution - coding silent 17:38918754-38918754 + PD11375a COSM5783025 c.334A>G p.K112E Substitution - Missense 17:38898496-38898496 + CHEWS007 COSM2837482 c.771C>T p.Y257Y Substitution - coding silent 17:38918763-38918763 + TCGA-BH-A0DH-01 COSM436475 c.650A>C p.D217A Substitution - Missense 17:38918642-38918642 + STC291 COSM5055414 c.627G>A p.A209A Substitution - coding silent 17:38918619-38918619 + TCGA-A4-A4ZT-01 COSM3988962 c.508G>A p.V170I Substitution - Missense 17:38914475-38914475 + 112146 COSM94594 c.34G>A p.V12M Substitution - Missense 17:38870223-38870223 + PCSI_0096_Pa_P_526 COSM4808210 c.349A>T p.I117F Substitution - Missense 17:38898511-38898511 + B86-Tumor COSM1749983 c.609C>T p.G203G Substitution - coding silent 17:38915143-38915143 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.741155;Hs.741156 17q11-q21.3 602920 2403547|CGAP|BC007560|A/G|non-coding||2022|Validated; 2403557|CGAP|BC007560|A/G|non-coding||1449|Validated; 2403557|CGAP|BC012460|A/G|non-coding||1574|Validated; 1523367|dbSNP|BC007560|C/T|coding|Asn119Asn|479|Validated; 1523367|dbSNP|BC012460|C/T|coding|Asn119Asn|403|Validated; 1523368|dbSNP|BC007560|A/G|coding|Ser146Ser|560|Validated; 1523368|dbSNP|BC012460|A/G|coding|Ser146Ser|484|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.D217A c.650A>C 17 37074895 BRCA A G IntronicSNV . c.250-2305A>G 17 37052360 PIA A G Synonymous p.T38T c.114A>G 17 37034383 LUAD CC TT Missense p.L72F c.213_214delinsTT 17 37046721 CM C G Missense p.R7G c.19C>G 17 37026461 BLCA C T Missense p.P165S c.493C>T 17 37070713 CM C T Nonsense p.Q83* c.247C>T 17 37046755 BLCA C T Synonymous p.D237D c.711C>T 17 37074956 COREAD G A Synonymous p.P254P c.762G>A 17 37075007 STAD G A Synonymous p.Q234Q c.702G>A 17 37074947 LUAD G C Missense p.E140Q c.418G>C 17 37070638 LUAD G C Missense p.W239C c.717G>C 17 37074962 ESCA G T Missense p.A180S c.538G>T 17 37071325 LUAD G T Missense p.R144L c.431G>T 17 37070651 CM G T Nonsense p.E220* c.658G>T 17 37074903 PRAD T C Missense p.Y207H c.619T>C 17 37074864 CM