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 80573890 80573890 + Missense_Mutation SNP C C A TCGA-GU-A42P-01A-11D-A23U-08 TCGA-GU-A42P-10A-01D-A23U-08 g.chr17:80573890C>A c.940G>T c.(940-942)Gac>Tac p.D314Y BLCA 17 80574476 80574476 + Missense_Mutation SNP C C G TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr17:80574476C>G c.852G>C c.(850-852)tgG>tgC p.W284C BLCA 17 80574488 80574488 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr17:80574488G>A c.840C>T c.(838-840)ttC>ttT p.F280F BLCA 17 80576938 80576938 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 g.chr17:80576938G>C c.685C>G c.(685-687)Caa>Gaa p.Q229E BLCA 17 80588887 80588889 + In_Frame_Del DEL CTT CTT - TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr17:80588887_80588889delCTT c.152_154delAAG c.(151-156)gaagga>gga p.E51del BLCA 17 80606167 80606167 + Missense_Mutation SNP C C A TCGA-KQ-A41O-01A-12D-A34U-08 TCGA-KQ-A41O-10D-01D-A34X-08 g.chr17:80606167C>A c.50G>T c.(49-51)gGc>gTc p.G17V BLCA 17 80606192 80606192 + Missense_Mutation SNP G G A TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr17:80606192G>A c.25C>T c.(25-27)Cac>Tac p.H9Y BRCA 17 80583301 80583301 + Nonsense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 g.chr17:80583301G>A c.391C>T c.(391-393)Cag>Tag p.Q131* BRCA 17 80585138 80585140 + In_Frame_Del DEL TCT TCT - TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 g.chr17:80585138_80585140delTCT c.272_274delAGA c.(271-276)aagact>act p.K91del CESC 17 80573806 80573806 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 g.chr17:80573806C>T c.1024G>A c.(1024-1026)Gac>Aac p.D342N CESC 17 80585163 80585163 + Missense_Mutation SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 g.chr17:80585163C>T c.249G>A c.(247-249)atG>atA p.M83I COAD 17 80574441 80574441 + Missense_Mutation SNP G G A TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr17:80574441G>A c.887C>T c.(886-888)cCg>cTg p.P296L COAD 17 80574441 80574441 + Missense_Mutation SNP G G A TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr17:80574441G>A c.887C>T c.(886-888)cCg>cTg p.P296L COAD 17 80574441 80574441 + Missense_Mutation SNP G G T TCGA-AA-3660-01A-01D-1719-10 TCGA-AA-3660-11A-01D-1719-10 g.chr17:80574441G>T c.887C>A c.(886-888)cCg>cAg p.P296Q COAD 17 80585164 80585164 + Missense_Mutation SNP A A G TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr17:80585164A>G c.248T>C c.(247-249)aTg>aCg p.M83T COAD 17 80588819 80588820 + Frame_Shift_Ins INS - - T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr17:80588819_80588820insT c.221_222insA c.(220-222)aagfs p.K74fs COAD 17 80601875 80601875 + Missense_Mutation SNP T T A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr17:80601875T>A c.92A>T c.(91-93)aAt>aTt p.N31I COAD 17 80601890 80601890 + Missense_Mutation SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr17:80601890G>A c.77C>T c.(76-78)gCg>gTg p.A26V COADREAD 17 80574409 80574409 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:80574409C>T c.919G>A c.(919-921)Gcc>Acc p.A307T COADREAD 17 80574441 80574441 + Missense_Mutation SNP G G A TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr17:80574441G>A c.887C>T c.(886-888)cCg>cTg p.P296L COADREAD 17 80574441 80574441 + Missense_Mutation SNP G G A TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr17:80574441G>A c.887C>T c.(886-888)cCg>cTg p.P296L COADREAD 17 80574441 80574441 + Missense_Mutation SNP G G T TCGA-AA-3660-01A-01D-1719-10 TCGA-AA-3660-11A-01D-1719-10 g.chr17:80574441G>T c.887C>A c.(886-888)cCg>cAg p.P296Q COADREAD 17 80579568 80579568 + Missense_Mutation SNP C C A TCGA-DY-A1DC-01A-31D-A152-10 TCGA-DY-A1DC-10A-01D-A152-10 g.chr17:80579568C>A c.535G>T c.(535-537)Gtg>Ttg p.V179L COADREAD 17 80583286 80583286 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:80583286C>T c.406G>A c.(406-408)Gaa>Aaa p.E136K COADREAD 17 80585164 80585164 + Missense_Mutation SNP A A G TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr17:80585164A>G c.248T>C c.(247-249)aTg>aCg p.M83T COADREAD 17 80588819 80588820 + Frame_Shift_Ins INS - - T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr17:80588819_80588820insT c.221_222insA c.(220-222)aagfs p.K74fs COADREAD 17 80601875 80601875 + Missense_Mutation SNP T T A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr17:80601875T>A c.92A>T c.(91-93)aAt>aTt p.N31I COADREAD 17 80601890 80601890 + Missense_Mutation SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr17:80601890G>A c.77C>T c.(76-78)gCg>gTg p.A26V DLBC 17 80573888 80573888 + Silent SNP G G A TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr17:80573888G>A c.942C>T c.(940-942)gaC>gaT p.D314D ESCA 17 80579621 80579621 + Missense_Mutation SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 g.chr17:80579621G>T c.482C>A c.(481-483)aCg>aAg p.T161K HNSC 17 80576938 80576938 + Missense_Mutation SNP G G C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 g.chr17:80576938G>C c.685C>G c.(685-687)Caa>Gaa p.Q229E HNSC 17 80588876 80588876 + Silent SNP G G A TCGA-MZ-A5BI-01A-31D-A34J-08 TCGA-MZ-A5BI-10C-01D-A34M-08 g.chr17:80588876G>A c.165C>T c.(163-165)ggC>ggT p.G55G KIPAN 17 80579499 80579499 + Missense_Mutation SNP T T C TCGA-BQ-5894-01A-11D-1589-08 TCGA-BQ-5894-11A-01D-1589-08 g.chr17:80579499T>C c.604A>G c.(604-606)Act>Gct p.T202A KIRP 17 80579499 80579499 + Missense_Mutation SNP T T C TCGA-BQ-5894-01A-11D-1589-08 TCGA-BQ-5894-11A-01D-1589-08 g.chr17:80579499T>C c.604A>G c.(604-606)Act>Gct p.T202A LIHC 17 80575188 80575188 + Frame_Shift_Del DEL T T - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr17:80575188delT c.790delA c.(790-792)aggfs p.R264fs LIHC 17 80576976 80576976 + Nonsense_Mutation SNP G G C TCGA-DD-A39W-01A-11D-A20W-10 TCGA-DD-A39W-11A-11D-A20W-10 g.chr17:80576976G>C c.647C>G c.(646-648)tCa>tGa p.S216* LUAD 17 80574409 80574409 + Missense_Mutation SNP C C A TCGA-55-A493-01A-11D-A24D-08 TCGA-55-A493-10A-01D-A24F-08 g.chr17:80574409C>A c.919G>T c.(919-921)Gcc>Tcc p.A307S LUAD 17 80588887 80588887 + Missense_Mutation SNP C C T TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chr17:80588887C>T c.154G>A c.(154-156)Gga>Aga p.G52R LUSC 17 80575231 80575231 + Silent SNP G G A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 g.chr17:80575231G>A c.747C>T c.(745-747)agC>agT p.S249S LUSC 17 80575270 80575270 + Silent SNP G G A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 g.chr17:80575270G>A c.708C>T c.(706-708)atC>atT p.I236I LUSC 17 80579613 80579613 + Missense_Mutation SNP C C A TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr17:80579613C>A c.490G>T c.(490-492)Ggc>Tgc p.G164C LUSC 17 80588802 80588802 + Missense_Mutation SNP T T A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 g.chr17:80588802T>A c.239A>T c.(238-240)aAc>aTc p.N80I OV 17 80574440 80574440 + Silent SNP C C A TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 g.chr17:80574440C>A c.888G>T c.(886-888)ccG>ccT p.P296P READ 17 80574409 80574409 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:80574409C>T c.919G>A c.(919-921)Gcc>Acc p.A307T READ 17 80579568 80579568 + Missense_Mutation SNP C C A TCGA-DY-A1DC-01A-31D-A152-10 TCGA-DY-A1DC-10A-01D-A152-10 g.chr17:80579568C>A c.535G>T c.(535-537)Gtg>Ttg p.V179L READ 17 80583286 80583286 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:80583286C>T c.406G>A c.(406-408)Gaa>Aaa p.E136K SKCM 17 80575213 80575213 + Silent SNP A A G TCGA-D3-A3ML-06A-11D-A21A-08 TCGA-D3-A3ML-10A-01D-A21A-08 g.chr17:80575213A>G c.765T>C c.(763-765)caT>caC p.H255H SKCM 17 80579640 80579640 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:80579640G>A c.463C>T c.(463-465)Ctc>Ttc p.L155F SKCM 17 80579641 80579641 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 g.chr17:80579641G>A c.462C>T c.(460-462)tcC>tcT p.S154S SKCM 17 80579641 80579641 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:80579641G>A c.462C>T c.(460-462)tcC>tcT p.S154S

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 80574488 80574488 single base substitution G A 3_prime_UTR_variant BLCA-US 17 80574488 80574488 single base substitution G A downstream_gene_variant BLCA-US 17 80574488 80574488 single base substitution G A exon_variant BLCA-US 17 80574488 80574488 single base substitution G A synonymous_variant F280F 840C>T BLCA-US 17 80588887 80588889 deletion of <=200bp CTT - disruptive_inframe_deletion EG51G BLCA-US 17 80588887 80588889 deletion of <=200bp CTT - exon_variant BLCA-US 17 80588887 80588889 deletion of <=200bp CTT - intron_variant BRCA-EU 17 80567899 80567899 single base substitution G C downstream_gene_variant BRCA-EU 17 80569289 80569289 single base substitution G C downstream_gene_variant BRCA-EU 17 80569394 80569394 single base substitution G A downstream_gene_variant BRCA-EU 17 80569453 80569453 single base substitution G A downstream_gene_variant BRCA-EU 17 80569987 80569987 single base substitution T C downstream_gene_variant BRCA-EU 17 80570474 80570474 single base substitution C A downstream_gene_variant BRCA-EU 17 80574580 80574580 single base substitution G A downstream_gene_variant BRCA-EU 17 80574580 80574580 single base substitution G A intron_variant BRCA-EU 17 80574817 80574817 single base substitution C T downstream_gene_variant BRCA-EU 17 80574817 80574817 single base substitution C T intron_variant BRCA-EU 17 80575042 80575042 single base substitution T G downstream_gene_variant BRCA-EU 17 80575042 80575042 single base substitution T G intron_variant BRCA-EU 17 80578520 80578520 single base substitution G C intron_variant BRCA-EU 17 80578520 80578520 single base substitution G C upstream_gene_variant BRCA-EU 17 80580425 80580425 single base substitution C T downstream_gene_variant BRCA-EU 17 80580425 80580425 single base substitution C T intron_variant BRCA-EU 17 80580425 80580425 single base substitution C T upstream_gene_variant BRCA-EU 17 80580598 80580598 single base substitution A T downstream_gene_variant BRCA-EU 17 80580598 80580598 single base substitution A T intron_variant BRCA-EU 17 80580598 80580598 single base substitution A T upstream_gene_variant BRCA-EU 17 80580878 80580878 single base substitution G A downstream_gene_variant BRCA-EU 17 80580878 80580878 single base substitution G A intron_variant BRCA-EU 17 80580878 80580878 single base substitution G A upstream_gene_variant BRCA-EU 17 80580909 80580913 deletion of <=200bp AAAAG - downstream_gene_variant BRCA-EU 17 80580909 80580913 deletion of <=200bp AAAAG - intron_variant BRCA-EU 17 80580909 80580913 deletion of <=200bp AAAAG - upstream_gene_variant BRCA-EU 17 80581805 80581805 single base substitution C T downstream_gene_variant BRCA-EU 17 80581805 80581805 single base substitution C T intron_variant BRCA-EU 17 80581805 80581805 single base substitution C T upstream_gene_variant BRCA-EU 17 80582052 80582053 deletion of <=200bp AC - downstream_gene_variant BRCA-EU 17 80582052 80582053 deletion of <=200bp AC - intron_variant BRCA-EU 17 80582655 80582655 single base substitution C T downstream_gene_variant BRCA-EU 17 80582655 80582655 single base substitution C T intron_variant BRCA-EU 17 80583791 80583791 single base substitution C T downstream_gene_variant BRCA-EU 17 80583791 80583791 single base substitution C T exon_variant BRCA-EU 17 80583791 80583791 single base substitution C T intron_variant BRCA-EU 17 80583791 80583791 single base substitution C T upstream_gene_variant BRCA-EU 17 80584614 80584614 single base substitution A G downstream_gene_variant BRCA-EU 17 80584614 80584614 single base substitution A G intron_variant BRCA-EU 17 80584614 80584614 single base substitution A G upstream_gene_variant BRCA-EU 17 80585610 80585610 single base substitution C T intron_variant BRCA-EU 17 80585610 80585610 single base substitution C T upstream_gene_variant BRCA-EU 17 80586015 80586015 single base substitution T C intron_variant BRCA-EU 17 80586015 80586015 single base substitution T C upstream_gene_variant BRCA-EU 17 80586088 80586088 single base substitution C T intron_variant BRCA-EU 17 80586088 80586088 single base substitution C T upstream_gene_variant BRCA-EU 17 80586781 80586781 single base substitution G A intron_variant BRCA-EU 17 80586781 80586781 single base substitution G A upstream_gene_variant BRCA-EU 17 80586803 80586803 single base substitution G A intron_variant BRCA-EU 17 80586803 80586803 single base substitution G A upstream_gene_variant BRCA-EU 17 80587661 80587661 single base substitution C T intron_variant BRCA-EU 17 80587661 80587661 single base substitution C T upstream_gene_variant BRCA-EU 17 80588080 80588080 single base substitution G T intron_variant BRCA-EU 17 80588080 80588080 single base substitution G T upstream_gene_variant BRCA-EU 17 80588397 80588397 single base substitution C A intron_variant BRCA-EU 17 80588397 80588397 single base substitution C A upstream_gene_variant BRCA-EU 17 80588526 80588526 single base substitution G A intron_variant BRCA-EU 17 80588526 80588526 single base substitution G A upstream_gene_variant BRCA-EU 17 80589511 80589511 single base substitution G C intron_variant BRCA-EU 17 80589528 80589528 deletion of <=200bp A - intron_variant BRCA-EU 17 80589890 80589890 single base substitution G A intron_variant BRCA-EU 17 80590811 80590811 single base substitution G A intron_variant BRCA-EU 17 80590861 80590861 single base substitution A C intron_variant BRCA-EU 17 80591178 80591178 single base substitution A T intron_variant BRCA-EU 17 80591248 80591248 single base substitution A T intron_variant BRCA-EU 17 80592264 80592264 single base substitution T C intron_variant BRCA-EU 17 80592702 80592702 insertion of <=200bp - G intron_variant BRCA-EU 17 80593716 80593716 single base substitution C T intron_variant BRCA-EU 17 80594093 80594093 single base substitution C T intron_variant BRCA-EU 17 80594429 80594429 single base substitution G C exon_variant BRCA-EU 17 80594429 80594429 single base substitution G C intron_variant BRCA-EU 17 80594648 80594648 single base substitution C G intron_variant BRCA-EU 17 80594648 80594648 single base substitution C G upstream_gene_variant BRCA-EU 17 80598293 80598293 single base substitution C G intron_variant BRCA-EU 17 80598293 80598293 single base substitution C G upstream_gene_variant BRCA-EU 17 80599084 80599084 single base substitution C T intron_variant BRCA-EU 17 80599084 80599084 single base substitution C T upstream_gene_variant BRCA-EU 17 80600604 80600604 single base substitution G C intron_variant BRCA-EU 17 80600950 80600950 single base substitution C T intron_variant BRCA-EU 17 80602774 80602774 single base substitution C T intron_variant BRCA-EU 17 80604707 80604707 single base substitution C T intron_variant BRCA-EU 17 80607145 80607145 single base substitution C T upstream_gene_variant BRCA-EU 17 80608427 80608427 single base substitution G C upstream_gene_variant BRCA-EU 17 80610574 80610574 single base substitution G C upstream_gene_variant BRCA-FR 17 80574580 80574580 single base substitution G A downstream_gene_variant BRCA-FR 17 80574580 80574580 single base substitution G A intron_variant BRCA-FR 17 80583791 80583791 single base substitution C T downstream_gene_variant BRCA-FR 17 80583791 80583791 single base substitution C T exon_variant BRCA-FR 17 80583791 80583791 single base substitution C T intron_variant BRCA-FR 17 80583791 80583791 single base substitution C T upstream_gene_variant BRCA-FR 17 80595881 80595881 single base substitution C G intron_variant BRCA-FR 17 80595881 80595881 single base substitution C G upstream_gene_variant BRCA-FR 17 80610574 80610574 single base substitution G C upstream_gene_variant BRCA-UK 17 80576938 80576938 single base substitution G C 3_prime_UTR_variant BRCA-UK 17 80576938 80576938 single base substitution G C downstream_gene_variant BRCA-UK 17 80576938 80576938 single base substitution G C exon_variant BRCA-UK 17 80576938 80576938 single base substitution G C missense_variant Q229E 685C>G BRCA-UK 17 80576938 80576938 single base substitution G C upstream_gene_variant BRCA-UK 17 80607497 80607497 single base substitution C T upstream_gene_variant BRCA-UK 17 80608427 80608427 single base substitution G C upstream_gene_variant BRCA-US 17 80583301 80583301 single base substitution G A 3_prime_UTR_variant BRCA-US 17 80583301 80583301 single base substitution G A downstream_gene_variant BRCA-US 17 80583301 80583301 single base substitution G A exon_variant BRCA-US 17 80583301 80583301 single base substitution G A stop_gained Q131* 391C>T BRCA-US 17 80585138 80585140 deletion of <=200bp TCT - 3_prime_UTR_variant BRCA-US 17 80585138 80585140 deletion of <=200bp TCT - disruptive_inframe_deletion KT91T BRCA-US 17 80585138 80585140 deletion of <=200bp TCT - exon_variant BRCA-US 17 80585138 80585140 deletion of <=200bp TCT - upstream_gene_variant BTCA-JP 17 80574539 80574539 single base substitution G T downstream_gene_variant BTCA-JP 17 80574539 80574539 single base substitution G T intron_variant BTCA-JP 17 80574645 80574645 deletion of <=200bp T - downstream_gene_variant BTCA-JP 17 80574645 80574645 deletion of <=200bp T - intron_variant BTCA-JP 17 80583230 80583230 single base substitution A G downstream_gene_variant BTCA-JP 17 80583230 80583230 single base substitution A G intron_variant BTCA-JP 17 80585094 80585094 single base substitution C T 3_prime_UTR_variant BTCA-JP 17 80585094 80585094 single base substitution C T exon_variant BTCA-JP 17 80585094 80585094 single base substitution C T synonymous_variant K106K 318G>A BTCA-JP 17 80585094 80585094 single base substitution C T upstream_gene_variant CESC-US 17 80573806 80573806 single base substitution C T 3_prime_UTR_variant CESC-US 17 80573806 80573806 single base substitution C T downstream_gene_variant CESC-US 17 80573806 80573806 single base substitution C T exon_variant CESC-US 17 80573806 80573806 single base substitution C T missense_variant D342N 1024G>A CESC-US 17 80585163 80585163 single base substitution C T 3_prime_UTR_variant CESC-US 17 80585163 80585163 single base substitution C T exon_variant CESC-US 17 80585163 80585163 single base substitution C T missense_variant M83I 249G>A CESC-US 17 80585163 80585163 single base substitution C T upstream_gene_variant CLLE-ES 17 80606476 80606476 insertion of <=200bp - GGGGA upstream_gene_variant COAD-US 17 80579609 80579609 single base substitution T C 3_prime_UTR_variant COAD-US 17 80579609 80579609 single base substitution T C exon_variant COAD-US 17 80579609 80579609 single base substitution T C missense_variant H165R 494A>G COAD-US 17 80579609 80579609 single base substitution T C upstream_gene_variant COAD-US 17 80585094 80585094 single base substitution C T 3_prime_UTR_variant COAD-US 17 80585094 80585094 single base substitution C T exon_variant COAD-US 17 80585094 80585094 single base substitution C T synonymous_variant K106K 318G>A COAD-US 17 80585094 80585094 single base substitution C T upstream_gene_variant COAD-US 17 80588819 80588819 insertion of <=200bp - T exon_variant COAD-US 17 80588819 80588819 insertion of <=200bp - T frameshift_variant K74K? COAD-US 17 80588819 80588819 insertion of <=200bp - T intron_variant COAD-US 17 80588819 80588819 insertion of <=200bp - T upstream_gene_variant COAD-US 17 80601875 80601875 single base substitution T A exon_variant COAD-US 17 80601875 80601875 single base substitution T A missense_variant N31I 92A>T COAD-US 17 80601890 80601890 single base substitution G A exon_variant COAD-US 17 80601890 80601890 single base substitution G A missense_variant A26V 77C>T COCA-CN 17 80573831 80573831 single base substitution G A 3_prime_UTR_variant COCA-CN 17 80573831 80573831 single base substitution G A downstream_gene_variant COCA-CN 17 80573831 80573831 single base substitution G A exon_variant COCA-CN 17 80573831 80573831 single base substitution G A synonymous_variant Y333Y 999C>T COCA-CN 17 80577000 80577000 single base substitution G A 3_prime_UTR_variant COCA-CN 17 80577000 80577000 single base substitution G A exon_variant COCA-CN 17 80577000 80577000 single base substitution G A intron_variant COCA-CN 17 80577000 80577000 single base substitution G A missense_variant T208M 623C>T COCA-CN 17 80577000 80577000 single base substitution G A upstream_gene_variant COCA-CN 17 80582729 80582729 single base substitution T C downstream_gene_variant COCA-CN 17 80582729 80582729 single base substitution T C intron_variant COCA-CN 17 80590679 80590679 single base substitution G A intron_variant EOPC-DE 17 80597603 80597603 single base substitution A G intron_variant EOPC-DE 17 80597603 80597603 single base substitution A G upstream_gene_variant ESAD-UK 17 80567750 80567750 single base substitution G A downstream_gene_variant ESAD-UK 17 80568186 80568186 deletion of <=200bp T - downstream_gene_variant ESAD-UK 17 80568220 80568220 single base substitution T G downstream_gene_variant ESAD-UK 17 80570587 80570587 single base substitution C T downstream_gene_variant ESAD-UK 17 80571642 80571642 single base substitution C T downstream_gene_variant ESAD-UK 17 80573560 80573560 single base substitution C T 3_prime_UTR_variant ESAD-UK 17 80573560 80573560 single base substitution C T downstream_gene_variant ESAD-UK 17 80573560 80573560 single base substitution C T intron_variant ESAD-UK 17 80573629 80573629 single base substitution T A 3_prime_UTR_variant ESAD-UK 17 80573629 80573629 single base substitution T A downstream_gene_variant ESAD-UK 17 80574700 80574701 deletion of <=200bp AT - downstream_gene_variant ESAD-UK 17 80574700 80574701 deletion of <=200bp AT - intron_variant ESAD-UK 17 80575815 80575815 single base substitution T C downstream_gene_variant ESAD-UK 17 80575815 80575815 single base substitution T C intron_variant ESAD-UK 17 80575815 80575815 single base substitution T C upstream_gene_variant ESAD-UK 17 80576237 80576237 single base substitution G A downstream_gene_variant ESAD-UK 17 80576237 80576237 single base substitution G A intron_variant ESAD-UK 17 80576237 80576237 single base substitution G A upstream_gene_variant ESAD-UK 17 80576359 80576359 single base substitution C T downstream_gene_variant ESAD-UK 17 80576359 80576359 single base substitution C T intron_variant ESAD-UK 17 80576359 80576359 single base substitution C T upstream_gene_variant ESAD-UK 17 80576656 80576656 single base substitution A G downstream_gene_variant ESAD-UK 17 80576656 80576656 single base substitution A G intron_variant ESAD-UK 17 80576656 80576656 single base substitution A G upstream_gene_variant ESAD-UK 17 80580727 80580727 single base substitution A G downstream_gene_variant ESAD-UK 17 80580727 80580727 single base substitution A G intron_variant ESAD-UK 17 80580727 80580727 single base substitution A G upstream_gene_variant ESAD-UK 17 80583143 80583143 single base substitution G C downstream_gene_variant ESAD-UK 17 80583143 80583143 single base substitution G C intron_variant ESAD-UK 17 80583615 80583615 single base substitution G A downstream_gene_variant ESAD-UK 17 80583615 80583615 single base substitution G A exon_variant ESAD-UK 17 80583615 80583615 single base substitution G A intron_variant ESAD-UK 17 80583615 80583615 single base substitution G A upstream_gene_variant ESAD-UK 17 80586909 80586909 deletion of <=200bp A - intron_variant ESAD-UK 17 80586909 80586909 deletion of <=200bp A - upstream_gene_variant ESAD-UK 17 80594472 80594472 single base substitution G T intron_variant ESAD-UK 17 80594472 80594472 single base substitution G T upstream_gene_variant ESAD-UK 17 80597626 80597626 single base substitution T A intron_variant ESAD-UK 17 80597626 80597626 single base substitution T A upstream_gene_variant ESAD-UK 17 80599424 80599424 single base substitution C T intron_variant ESAD-UK 17 80599424 80599424 single base substitution C T upstream_gene_variant ESAD-UK 17 80600683 80600683 deletion of <=200bp G - intron_variant ESAD-UK 17 80602367 80602367 single base substitution G A intron_variant ESAD-UK 17 80603279 80603279 single base substitution T G intron_variant ESCA-CN 17 80573864 80573864 single base substitution G C 3_prime_UTR_variant ESCA-CN 17 80573864 80573864 single base substitution G C downstream_gene_variant ESCA-CN 17 80573864 80573864 single base substitution G C exon_variant ESCA-CN 17 80573864 80573864 single base substitution G C missense_variant F322L 966C>G KIRP-US 17 80579499 80579499 single base substitution T C 3_prime_UTR_variant KIRP-US 17 80579499 80579499 single base substitution T C exon_variant KIRP-US 17 80579499 80579499 single base substitution T C missense_variant T202A 604A>G KIRP-US 17 80579499 80579499 single base substitution T C upstream_gene_variant LAML-KR 17 80574364 80574364 single base substitution C A downstream_gene_variant LAML-KR 17 80574364 80574364 single base substitution C A intron_variant LAML-KR 17 80581280 80581280 single base substitution C A downstream_gene_variant LAML-KR 17 80581280 80581280 single base substitution C A intron_variant LAML-KR 17 80581280 80581280 single base substitution C A upstream_gene_variant LAML-KR 17 80585033 80585033 single base substitution T A intron_variant LAML-KR 17 80585033 80585033 single base substitution T A upstream_gene_variant LAML-KR 17 80597861 80597861 single base substitution G T intron_variant LAML-KR 17 80597861 80597861 single base substitution G T upstream_gene_variant LICA-CN 17 80601844 80601844 single base substitution T C exon_variant LICA-CN 17 80601844 80601844 single base substitution T C synonymous_variant L41L 123A>G LICA-FR 17 80572191 80572191 single base substitution C T downstream_gene_variant LICA-FR 17 80578896 80578896 single base substitution T C intron_variant LICA-FR 17 80578896 80578896 single base substitution T C upstream_gene_variant LICA-FR 17 80608518 80608519 deletion of <=200bp AA - upstream_gene_variant LICA-FR 17 80609051 80609051 single base substitution T G upstream_gene_variant LINC-JP 17 80579750 80579750 single base substitution A C downstream_gene_variant LINC-JP 17 80579750 80579750 single base substitution A C intron_variant LINC-JP 17 80579750 80579750 single base substitution A C upstream_gene_variant LINC-JP 17 80591638 80591638 single base substitution C T intron_variant LINC-JP 17 80597835 80597835 single base substitution C T intron_variant LINC-JP 17 80597835 80597835 single base substitution C T upstream_gene_variant LINC-JP 17 80599949 80599949 single base substitution G T intron_variant LINC-JP 17 80603474 80603474 single base substitution A T intron_variant LINC-JP 17 80605315 80605315 single base substitution C T intron_variant LIRI-JP 17 80568780 80568780 single base substitution T G downstream_gene_variant LIRI-JP 17 80577820 80577820 single base substitution G A intron_variant LIRI-JP 17 80577820 80577820 single base substitution G A upstream_gene_variant LIRI-JP 17 80578591 80578591 single base substitution T C intron_variant LIRI-JP 17 80578591 80578591 single base substitution T C upstream_gene_variant LIRI-JP 17 80580330 80580330 single base substitution G A downstream_gene_variant LIRI-JP 17 80580330 80580330 single base substitution G A intron_variant LIRI-JP 17 80580330 80580330 single base substitution G A upstream_gene_variant LIRI-JP 17 80583706 80583706 single base substitution G T downstream_gene_variant LIRI-JP 17 80583706 80583706 single base substitution G T exon_variant LIRI-JP 17 80583706 80583706 single base substitution G T intron_variant LIRI-JP 17 80583706 80583706 single base substitution G T upstream_gene_variant LIRI-JP 17 80584823 80584823 single base substitution A C exon_variant LIRI-JP 17 80584823 80584823 single base substitution A C intron_variant LIRI-JP 17 80584823 80584823 single base substitution A C upstream_gene_variant LIRI-JP 17 80585801 80585801 single base substitution T C intron_variant LIRI-JP 17 80585801 80585801 single base substitution T C upstream_gene_variant LIRI-JP 17 80586663 80586663 single base substitution C G intron_variant LIRI-JP 17 80586663 80586663 single base substitution C G upstream_gene_variant LIRI-JP 17 80587680 80587680 single base substitution T C intron_variant LIRI-JP 17 80587680 80587680 single base substitution T C upstream_gene_variant LIRI-JP 17 80587689 80587689 single base substitution T C intron_variant LIRI-JP 17 80587689 80587689 single base substitution T C upstream_gene_variant LIRI-JP 17 80591153 80591153 single base substitution T A intron_variant LIRI-JP 17 80591154 80591154 single base substitution A C intron_variant LIRI-JP 17 80595343 80595343 single base substitution T C intron_variant LIRI-JP 17 80595343 80595343 single base substitution T C upstream_gene_variant LIRI-JP 17 80596188 80596188 single base substitution G C intron_variant LIRI-JP 17 80596188 80596188 single base substitution G C upstream_gene_variant LIRI-JP 17 80598698 80598698 single base substitution T G intron_variant LIRI-JP 17 80598698 80598698 single base substitution T G upstream_gene_variant LIRI-JP 17 80600845 80600845 single base substitution T C intron_variant LIRI-JP 17 80600874 80600874 deletion of <=200bp C - intron_variant LIRI-JP 17 80600923 80600923 single base substitution C T intron_variant LIRI-JP 17 80603574 80603574 single base substitution T C intron_variant LIRI-JP 17 80604061 80604061 single base substitution A G intron_variant LIRI-JP 17 80609680 80609680 single base substitution G A upstream_gene_variant LIRI-JP 17 80610590 80610590 single base substitution G C upstream_gene_variant LUSC-KR 17 80580613 80580613 single base substitution G T downstream_gene_variant LUSC-KR 17 80580613 80580613 single base substitution G T intron_variant LUSC-KR 17 80580613 80580613 single base substitution G T upstream_gene_variant LUSC-KR 17 80584976 80584976 single base substitution T A intron_variant LUSC-KR 17 80584976 80584976 single base substitution T A upstream_gene_variant LUSC-KR 17 80585132 80585132 single base substitution T A 3_prime_UTR_variant LUSC-KR 17 80585132 80585132 single base substitution T A exon_variant LUSC-KR 17 80585132 80585132 single base substitution T A missense_variant I94F 280A>T LUSC-KR 17 80585132 80585132 single base substitution T A upstream_gene_variant LUSC-KR 17 80595848 80595848 single base substitution G T intron_variant LUSC-KR 17 80595848 80595848 single base substitution G T upstream_gene_variant LUSC-KR 17 80595940 80595940 single base substitution T A intron_variant LUSC-KR 17 80595940 80595940 single base substitution T A upstream_gene_variant LUSC-KR 17 80596133 80596133 single base substitution G A intron_variant LUSC-KR 17 80596133 80596133 single base substitution G A upstream_gene_variant LUSC-KR 17 80597860 80597860 single base substitution T C intron_variant LUSC-KR 17 80597860 80597860 single base substitution T C upstream_gene_variant LUSC-KR 17 80597861 80597861 single base substitution G T intron_variant LUSC-KR 17 80597861 80597861 single base substitution G T upstream_gene_variant LUSC-KR 17 80599259 80599259 single base substitution C T intron_variant LUSC-KR 17 80599259 80599259 single base substitution C T upstream_gene_variant LUSC-KR 17 80602016 80602016 single base substitution C A intron_variant LUSC-KR 17 80606938 80606938 single base substitution G A upstream_gene_variant LUSC-US 17 80575231 80575231 single base substitution G A 3_prime_UTR_variant LUSC-US 17 80575231 80575231 single base substitution G A downstream_gene_variant LUSC-US 17 80575231 80575231 single base substitution G A exon_variant LUSC-US 17 80575231 80575231 single base substitution G A synonymous_variant S249S 747C>T LUSC-US 17 80575270 80575270 single base substitution G A 3_prime_UTR_variant LUSC-US 17 80575270 80575270 single base substitution G A downstream_gene_variant LUSC-US 17 80575270 80575270 single base substitution G A exon_variant LUSC-US 17 80575270 80575270 single base substitution G A synonymous_variant I236I 708C>T LUSC-US 17 80579613 80579613 single base substitution C A 3_prime_UTR_variant LUSC-US 17 80579613 80579613 single base substitution C A exon_variant LUSC-US 17 80579613 80579613 single base substitution C A missense_variant G164C 490G>T LUSC-US 17 80579613 80579613 single base substitution C A upstream_gene_variant LUSC-US 17 80588802 80588802 single base substitution T A exon_variant LUSC-US 17 80588802 80588802 single base substitution T A intron_variant LUSC-US 17 80588802 80588802 single base substitution T A missense_variant N80I 239A>T LUSC-US 17 80588802 80588802 single base substitution T A upstream_gene_variant MALY-DE 17 80570664 80570664 single base substitution T G downstream_gene_variant MALY-DE 17 80573828 80573828 single base substitution C T 3_prime_UTR_variant MALY-DE 17 80573828 80573828 single base substitution C T downstream_gene_variant MALY-DE 17 80573828 80573828 single base substitution C T exon_variant MALY-DE 17 80573828 80573828 single base substitution C T synonymous_variant A334A 1002G>A MALY-DE 17 80590769 80590769 single base substitution C G intron_variant MALY-DE 17 80597747 80597748 deletion of <=200bp TG - intron_variant MALY-DE 17 80597747 80597748 deletion of <=200bp TG - upstream_gene_variant MALY-DE 17 80601330 80601330 single base substitution T C intron_variant MALY-DE 17 80602244 80602244 single base substitution G A intron_variant MALY-DE 17 80609026 80609027 deletion of <=200bp AC - upstream_gene_variant MELA-AU 17 80568876 80568876 single base substitution G A downstream_gene_variant MELA-AU 17 80569492 80569493 multiple base substitution (>=2bp and <=200bp) GG AC downstream_gene_variant MELA-AU 17 80569746 80569746 single base substitution G A downstream_gene_variant MELA-AU 17 80569942 80569942 single base substitution A G downstream_gene_variant MELA-AU 17 80570821 80570821 single base substitution T C downstream_gene_variant MELA-AU 17 80571007 80571007 single base substitution C T downstream_gene_variant MELA-AU 17 80571073 80571073 single base substitution G A downstream_gene_variant MELA-AU 17 80572568 80572568 single base substitution G A 3_prime_UTR_variant MELA-AU 17 80572568 80572568 single base substitution G A downstream_gene_variant MELA-AU 17 80573139 80573139 single base substitution G A 3_prime_UTR_variant MELA-AU 17 80573139 80573139 single base substitution G A downstream_gene_variant MELA-AU 17 80573139 80573139 single base substitution G A intron_variant MELA-AU 17 80573176 80573176 single base substitution G T 3_prime_UTR_variant MELA-AU 17 80573176 80573176 single base substitution G T downstream_gene_variant MELA-AU 17 80573176 80573176 single base substitution G T intron_variant MELA-AU 17 80574059 80574059 single base substitution G A downstream_gene_variant MELA-AU 17 80574059 80574059 single base substitution G A intron_variant MELA-AU 17 80574263 80574263 single base substitution G A downstream_gene_variant MELA-AU 17 80574263 80574263 single base substitution G A intron_variant MELA-AU 17 80574681 80574681 single base substitution A T downstream_gene_variant MELA-AU 17 80574681 80574681 single base substitution A T intron_variant MELA-AU 17 80574851 80574851 single base substitution G A downstream_gene_variant MELA-AU 17 80574851 80574851 single base substitution G A intron_variant MELA-AU 17 80575085 80575086 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 80575085 80575086 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 80575287 80575287 single base substitution C T downstream_gene_variant MELA-AU 17 80575287 80575287 single base substitution C T exon_variant MELA-AU 17 80575287 80575287 single base substitution C T intron_variant MELA-AU 17 80575900 80575900 single base substitution G A downstream_gene_variant MELA-AU 17 80575900 80575900 single base substitution G A intron_variant MELA-AU 17 80575900 80575900 single base substitution G A upstream_gene_variant MELA-AU 17 80576317 80576317 single base substitution G A downstream_gene_variant MELA-AU 17 80576317 80576317 single base substitution G A intron_variant MELA-AU 17 80576317 80576317 single base substitution G A upstream_gene_variant MELA-AU 17 80577318 80577318 single base substitution G A intron_variant MELA-AU 17 80577318 80577318 single base substitution G A upstream_gene_variant MELA-AU 17 80578343 80578343 single base substitution G A intron_variant MELA-AU 17 80578343 80578343 single base substitution G A upstream_gene_variant MELA-AU 17 80578392 80578392 single base substitution G A intron_variant MELA-AU 17 80578392 80578392 single base substitution G A upstream_gene_variant MELA-AU 17 80578501 80578501 single base substitution G A intron_variant MELA-AU 17 80578501 80578501 single base substitution G A upstream_gene_variant MELA-AU 17 80578583 80578583 single base substitution G A intron_variant MELA-AU 17 80578583 80578583 single base substitution G A upstream_gene_variant MELA-AU 17 80578953 80578953 single base substitution G A intron_variant MELA-AU 17 80578953 80578953 single base substitution G A upstream_gene_variant MELA-AU 17 80579065 80579065 single base substitution G A intron_variant MELA-AU 17 80579065 80579065 single base substitution G A upstream_gene_variant MELA-AU 17 80579114 80579114 single base substitution G C intron_variant MELA-AU 17 80579114 80579114 single base substitution G C upstream_gene_variant MELA-AU 17 80579199 80579200 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 80579199 80579200 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 80579309 80579309 single base substitution G A intron_variant MELA-AU 17 80579309 80579309 single base substitution G A upstream_gene_variant MELA-AU 17 80580331 80580331 single base substitution G A downstream_gene_variant MELA-AU 17 80580331 80580331 single base substitution G A intron_variant MELA-AU 17 80580331 80580331 single base substitution G A upstream_gene_variant MELA-AU 17 80581677 80581677 single base substitution G A downstream_gene_variant MELA-AU 17 80581677 80581677 single base substitution G A intron_variant MELA-AU 17 80581677 80581677 single base substitution G A upstream_gene_variant MELA-AU 17 80581847 80581847 single base substitution G A downstream_gene_variant MELA-AU 17 80581847 80581847 single base substitution G A intron_variant MELA-AU 17 80581847 80581847 single base substitution G A upstream_gene_variant MELA-AU 17 80583196 80583196 single base substitution G A downstream_gene_variant MELA-AU 17 80583196 80583196 single base substitution G A intron_variant MELA-AU 17 80583732 80583732 single base substitution G A downstream_gene_variant MELA-AU 17 80583732 80583732 single base substitution G A exon_variant MELA-AU 17 80583732 80583732 single base substitution G A intron_variant MELA-AU 17 80583732 80583732 single base substitution G A upstream_gene_variant MELA-AU 17 80585777 80585777 single base substitution G A intron_variant MELA-AU 17 80585777 80585777 single base substitution G A upstream_gene_variant MELA-AU 17 80585797 80585797 single base substitution G A intron_variant MELA-AU 17 80585797 80585797 single base substitution G A upstream_gene_variant MELA-AU 17 80586140 80586140 single base substitution A G intron_variant MELA-AU 17 80586140 80586140 single base substitution A G upstream_gene_variant MELA-AU 17 80586175 80586176 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 17 80586175 80586176 multiple base substitution (>=2bp and <=200bp) CC TA upstream_gene_variant MELA-AU 17 80586287 80586287 single base substitution G A intron_variant MELA-AU 17 80586287 80586287 single base substitution G A upstream_gene_variant MELA-AU 17 80587512 80587512 single base substitution C T intron_variant MELA-AU 17 80587512 80587512 single base substitution C T splice_region_variant MELA-AU 17 80587512 80587512 single base substitution C T upstream_gene_variant MELA-AU 17 80588106 80588107 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 80588106 80588107 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 80588320 80588320 single base substitution C T intron_variant MELA-AU 17 80588320 80588320 single base substitution C T upstream_gene_variant MELA-AU 17 80588478 80588478 single base substitution G A intron_variant MELA-AU 17 80588478 80588478 single base substitution G A upstream_gene_variant MELA-AU 17 80588580 80588580 single base substitution G A intron_variant MELA-AU 17 80588580 80588580 single base substitution G A upstream_gene_variant MELA-AU 17 80590132 80590132 single base substitution G A intron_variant MELA-AU 17 80590172 80590172 single base substitution G A intron_variant MELA-AU 17 80590716 80590716 single base substitution C A intron_variant MELA-AU 17 80590724 80590724 single base substitution G A intron_variant MELA-AU 17 80590725 80590725 single base substitution G A intron_variant MELA-AU 17 80590769 80590770 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 80590798 80590798 single base substitution A C intron_variant MELA-AU 17 80591120 80591120 single base substitution G C intron_variant MELA-AU 17 80591673 80591673 single base substitution T C intron_variant MELA-AU 17 80591976 80591976 single base substitution G A intron_variant MELA-AU 17 80592014 80592014 single base substitution G A intron_variant MELA-AU 17 80592272 80592272 single base substitution G A intron_variant MELA-AU 17 80593350 80593350 single base substitution G A intron_variant MELA-AU 17 80594261 80594261 single base substitution G C intron_variant MELA-AU 17 80594399 80594399 single base substitution G A exon_variant MELA-AU 17 80594399 80594399 single base substitution G A intron_variant MELA-AU 17 80595386 80595386 single base substitution C T intron_variant MELA-AU 17 80595386 80595386 single base substitution C T upstream_gene_variant MELA-AU 17 80597135 80597135 single base substitution C T intron_variant MELA-AU 17 80597135 80597135 single base substitution C T upstream_gene_variant MELA-AU 17 80597486 80597486 single base substitution G A intron_variant MELA-AU 17 80597486 80597486 single base substitution G A upstream_gene_variant MELA-AU 17 80597671 80597671 single base substitution G A intron_variant MELA-AU 17 80597671 80597671 single base substitution G A upstream_gene_variant MELA-AU 17 80599033 80599034 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 80599033 80599034 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 80599548 80599548 single base substitution G A intron_variant MELA-AU 17 80599563 80599563 single base substitution G A intron_variant MELA-AU 17 80599823 80599823 single base substitution G A intron_variant MELA-AU 17 80599983 80599983 single base substitution C T intron_variant MELA-AU 17 80599993 80599993 single base substitution C T intron_variant MELA-AU 17 80600082 80600082 single base substitution C A intron_variant MELA-AU 17 80600412 80600412 single base substitution G A intron_variant MELA-AU 17 80600963 80600963 single base substitution A C intron_variant MELA-AU 17 80601359 80601359 single base substitution C T intron_variant MELA-AU 17 80601527 80601528 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 80601723 80601723 single base substitution C T intron_variant MELA-AU 17 80601725 80601725 single base substitution C T intron_variant MELA-AU 17 80602184 80602184 single base substitution G A intron_variant MELA-AU 17 80602763 80602763 single base substitution G A intron_variant MELA-AU 17 80603167 80603168 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 80603765 80603765 single base substitution G A intron_variant MELA-AU 17 80605503 80605503 single base substitution A G intron_variant MELA-AU 17 80605524 80605524 single base substitution G A intron_variant MELA-AU 17 80605904 80605904 single base substitution G A intron_variant MELA-AU 17 80606063 80606063 single base substitution G A intron_variant MELA-AU 17 80607148 80607148 single base substitution G A upstream_gene_variant MELA-AU 17 80607464 80607464 single base substitution C T upstream_gene_variant MELA-AU 17 80607523 80607523 single base substitution C T upstream_gene_variant MELA-AU 17 80607710 80607710 single base substitution C T upstream_gene_variant MELA-AU 17 80607861 80607861 single base substitution C T upstream_gene_variant MELA-AU 17 80608182 80608182 single base substitution G A upstream_gene_variant MELA-AU 17 80609299 80609299 single base substitution G A upstream_gene_variant MELA-AU 17 80609760 80609760 single base substitution A C upstream_gene_variant MELA-AU 17 80610256 80610257 multiple base substitution (>=2bp and <=200bp) CC AT upstream_gene_variant MELA-AU 17 80610276 80610276 single base substitution G A upstream_gene_variant ORCA-IN 17 80568218 80568218 deletion of <=200bp G - downstream_gene_variant ORCA-IN 17 80574013 80574013 insertion of <=200bp - A downstream_gene_variant ORCA-IN 17 80574013 80574013 insertion of <=200bp - A intron_variant ORCA-IN 17 80581688 80581688 single base substitution C A downstream_gene_variant ORCA-IN 17 80581688 80581688 single base substitution C A intron_variant ORCA-IN 17 80581688 80581688 single base substitution C A upstream_gene_variant ORCA-IN 17 80597841 80597842 deletion of <=200bp TG - intron_variant ORCA-IN 17 80597841 80597842 deletion of <=200bp TG - upstream_gene_variant ORCA-IN 17 80602460 80602460 single base substitution T C intron_variant OV-AU 17 80574029 80574029 single base substitution C G downstream_gene_variant OV-AU 17 80574029 80574029 single base substitution C G intron_variant OV-AU 17 80579929 80579929 single base substitution A G downstream_gene_variant OV-AU 17 80579929 80579929 single base substitution A G intron_variant OV-AU 17 80579929 80579929 single base substitution A G upstream_gene_variant OV-AU 17 80580527 80580527 single base substitution C G downstream_gene_variant OV-AU 17 80580527 80580527 single base substitution C G intron_variant OV-AU 17 80580527 80580527 single base substitution C G upstream_gene_variant OV-AU 17 80580598 80580598 single base substitution A T downstream_gene_variant OV-AU 17 80580598 80580598 single base substitution A T intron_variant OV-AU 17 80580598 80580598 single base substitution A T upstream_gene_variant OV-AU 17 80591868 80591868 single base substitution T C intron_variant OV-AU 17 80599272 80599272 single base substitution A G intron_variant OV-AU 17 80599272 80599272 single base substitution A G upstream_gene_variant OV-AU 17 80602371 80602371 single base substitution C T intron_variant OV-AU 17 80602455 80602455 single base substitution C T intron_variant OV-AU 17 80605665 80605665 single base substitution A G intron_variant OV-AU 17 80609983 80609983 single base substitution C T upstream_gene_variant OV-US 17 80574440 80574440 single base substitution C A 3_prime_UTR_variant OV-US 17 80574440 80574440 single base substitution C A downstream_gene_variant OV-US 17 80574440 80574440 single base substitution C A exon_variant OV-US 17 80574440 80574440 single base substitution C A synonymous_variant P296P 888G>T PACA-AU 17 80567759 80567759 single base substitution G A downstream_gene_variant PACA-AU 17 80570198 80570198 deletion of <=200bp T - downstream_gene_variant PACA-AU 17 80577835 80577835 single base substitution A G intron_variant PACA-AU 17 80577835 80577835 single base substitution A G upstream_gene_variant PACA-AU 17 80580598 80580598 single base substitution A T downstream_gene_variant PACA-AU 17 80580598 80580598 single base substitution A T intron_variant PACA-AU 17 80580598 80580598 single base substitution A T upstream_gene_variant PACA-AU 17 80586386 80586386 single base substitution G A intron_variant PACA-AU 17 80586386 80586386 single base substitution G A upstream_gene_variant PACA-AU 17 80592311 80592311 single base substitution C T intron_variant PACA-AU 17 80593239 80593239 single base substitution C G intron_variant PACA-AU 17 80593630 80593630 single base substitution T C intron_variant PACA-AU 17 80597618 80597618 single base substitution C A intron_variant PACA-AU 17 80597618 80597618 single base substitution C A upstream_gene_variant PACA-AU 17 80601121 80601121 single base substitution C T intron_variant PACA-AU 17 80601771 80601771 single base substitution A T intron_variant PACA-AU 17 80603667 80603667 single base substitution T C intron_variant PACA-AU 17 80604473 80604473 single base substitution G C intron_variant PACA-AU 17 80610068 80610068 single base substitution C A upstream_gene_variant PACA-CA 17 80573707 80573707 single base substitution G A 3_prime_UTR_variant PACA-CA 17 80573707 80573707 single base substitution G A downstream_gene_variant PACA-CA 17 80574700 80574700 single base substitution A T downstream_gene_variant PACA-CA 17 80574700 80574700 single base substitution A T intron_variant PACA-CA 17 80574701 80574701 single base substitution T A downstream_gene_variant PACA-CA 17 80574701 80574701 single base substitution T A intron_variant PACA-CA 17 80578055 80578055 single base substitution A C intron_variant PACA-CA 17 80578055 80578055 single base substitution A C upstream_gene_variant PACA-CA 17 80579280 80579280 single base substitution G A intron_variant PACA-CA 17 80579280 80579280 single base substitution G A upstream_gene_variant PACA-CA 17 80586402 80586402 single base substitution C G intron_variant PACA-CA 17 80586402 80586402 single base substitution C G upstream_gene_variant PACA-CA 17 80587325 80587325 single base substitution A T intron_variant PACA-CA 17 80587325 80587325 single base substitution A T upstream_gene_variant PACA-CA 17 80587972 80587972 single base substitution G A intron_variant PACA-CA 17 80587972 80587972 single base substitution G A upstream_gene_variant PACA-CA 17 80588163 80588163 single base substitution C G intron_variant PACA-CA 17 80588163 80588163 single base substitution C G upstream_gene_variant PACA-CA 17 80594675 80594675 single base substitution T C intron_variant PACA-CA 17 80594675 80594675 single base substitution T C upstream_gene_variant PACA-CA 17 80596711 80596711 deletion of <=200bp T - intron_variant PACA-CA 17 80596711 80596711 deletion of <=200bp T - upstream_gene_variant PACA-CA 17 80603261 80603261 single base substitution G C intron_variant PACA-CA 17 80608171 80608171 single base substitution A G upstream_gene_variant PACA-CA 17 80609902 80609902 single base substitution G A upstream_gene_variant PAEN-AU 17 80574123 80574123 single base substitution G T downstream_gene_variant PAEN-AU 17 80574123 80574123 single base substitution G T intron_variant PAEN-AU 17 80609793 80609793 single base substitution C T upstream_gene_variant PAEN-AU 17 80610364 80610364 single base substitution G A upstream_gene_variant PAEN-AU 17 80610932 80610932 single base substitution G A upstream_gene_variant PBCA-DE 17 80570649 80570649 single base substitution G A downstream_gene_variant PBCA-DE 17 80572121 80572121 single base substitution C A downstream_gene_variant PBCA-DE 17 80574645 80574645 insertion of <=200bp - T downstream_gene_variant PBCA-DE 17 80574645 80574645 insertion of <=200bp - T intron_variant PBCA-DE 17 80576469 80576469 single base substitution C T downstream_gene_variant PBCA-DE 17 80576469 80576469 single base substitution C T intron_variant PBCA-DE 17 80576469 80576469 single base substitution C T upstream_gene_variant PBCA-DE 17 80597744 80597744 single base substitution A G intron_variant PBCA-DE 17 80597744 80597744 single base substitution A G upstream_gene_variant PBCA-DE 17 80597747 80597748 deletion of <=200bp TG - intron_variant PBCA-DE 17 80597747 80597748 deletion of <=200bp TG - upstream_gene_variant PBCA-DE 17 80609026 80609026 insertion of <=200bp - AC upstream_gene_variant PBCA-DE 17 80609026 80609027 deletion of <=200bp AC - upstream_gene_variant PRAD-CA 17 80572121 80572121 single base substitution C A downstream_gene_variant PRAD-CA 17 80572131 80572131 single base substitution T A downstream_gene_variant PRAD-CA 17 80572191 80572191 single base substitution C T downstream_gene_variant PRAD-CA 17 80589915 80589915 single base substitution C G intron_variant PRAD-CA 17 80597795 80597795 single base substitution T A intron_variant PRAD-CA 17 80597795 80597795 single base substitution T A upstream_gene_variant PRAD-CA 17 80603806 80603806 single base substitution G A intron_variant PRAD-UK 17 80568220 80568220 single base substitution T G downstream_gene_variant PRAD-UK 17 80577812 80577812 single base substitution G A intron_variant PRAD-UK 17 80577812 80577812 single base substitution G A upstream_gene_variant PRAD-UK 17 80603332 80603332 single base substitution A T intron_variant READ-US 17 80579568 80579568 single base substitution C A 3_prime_UTR_variant READ-US 17 80579568 80579568 single base substitution C A exon_variant READ-US 17 80579568 80579568 single base substitution C A missense_variant V179L 535G>T READ-US 17 80579568 80579568 single base substitution C A upstream_gene_variant RECA-EU 17 80607464 80607464 single base substitution C T upstream_gene_variant SKCA-BR 17 80569553 80569553 single base substitution C T downstream_gene_variant SKCA-BR 17 80569554 80569554 single base substitution C T downstream_gene_variant SKCA-BR 17 80569555 80569555 single base substitution C G downstream_gene_variant SKCA-BR 17 80572155 80572155 single base substitution C T downstream_gene_variant SKCA-BR 17 80572238 80572238 single base substitution A G downstream_gene_variant SKCA-BR 17 80572253 80572253 single base substitution T C downstream_gene_variant SKCA-BR 17 80572255 80572255 single base substitution T C downstream_gene_variant SKCA-BR 17 80574373 80574373 single base substitution A G downstream_gene_variant SKCA-BR 17 80574373 80574373 single base substitution A G intron_variant SKCA-BR 17 80578711 80578711 single base substitution G A intron_variant SKCA-BR 17 80578711 80578711 single base substitution G A upstream_gene_variant SKCA-BR 17 80580293 80580293 single base substitution G A downstream_gene_variant SKCA-BR 17 80580293 80580293 single base substitution G A intron_variant SKCA-BR 17 80580293 80580293 single base substitution G A upstream_gene_variant SKCA-BR 17 80581279 80581280 deletion of <=200bp AC - downstream_gene_variant SKCA-BR 17 80581279 80581280 deletion of <=200bp AC - intron_variant SKCA-BR 17 80581279 80581280 deletion of <=200bp AC - upstream_gene_variant SKCA-BR 17 80582500 80582500 insertion of <=200bp - GTTT downstream_gene_variant SKCA-BR 17 80582500 80582500 insertion of <=200bp - GTTT intron_variant SKCA-BR 17 80582949 80582949 single base substitution G A downstream_gene_variant SKCA-BR 17 80582949 80582949 single base substitution G A intron_variant SKCA-BR 17 80589153 80589154 deletion of <=200bp AT - intron_variant SKCA-BR 17 80591038 80591039 deletion of <=200bp CA - intron_variant SKCA-BR 17 80597719 80597719 single base substitution G A intron_variant SKCA-BR 17 80597719 80597719 single base substitution G A upstream_gene_variant SKCA-BR 17 80598229 80598229 insertion of <=200bp - CT intron_variant SKCA-BR 17 80598229 80598229 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 17 80600882 80600882 single base substitution A G intron_variant SKCA-BR 17 80604385 80604389 deletion of <=200bp AAAAC - intron_variant SKCA-BR 17 80604386 80604389 deletion of <=200bp AAAC - intron_variant SKCA-BR 17 80604389 80604389 single base substitution C A intron_variant SKCA-BR 17 80605078 80605078 single base substitution G A intron_variant SKCA-BR 17 80609299 80609299 single base substitution G A upstream_gene_variant SKCM-US 17 80575213 80575213 single base substitution A G 3_prime_UTR_variant SKCM-US 17 80575213 80575213 single base substitution A G downstream_gene_variant SKCM-US 17 80575213 80575213 single base substitution A G exon_variant SKCM-US 17 80575213 80575213 single base substitution A G synonymous_variant H255H 765T>C SKCM-US 17 80579641 80579641 single base substitution G A 3_prime_UTR_variant SKCM-US 17 80579641 80579641 single base substitution G A exon_variant SKCM-US 17 80579641 80579641 single base substitution G A synonymous_variant S154S 462C>T SKCM-US 17 80579641 80579641 single base substitution G A upstream_gene_variant STAD-US 17 80573851 80573851 deletion of <=200bp C - 3_prime_UTR_variant STAD-US 17 80573851 80573851 deletion of <=200bp C - downstream_gene_variant STAD-US 17 80573851 80573851 deletion of <=200bp C - exon_variant STAD-US 17 80573851 80573851 deletion of <=200bp C - frameshift_variant E327 STAD-US 17 80579639 80579639 single base substitution A G 3_prime_UTR_variant STAD-US 17 80579639 80579639 single base substitution A G exon_variant STAD-US 17 80579639 80579639 single base substitution A G missense_variant L155P 464T>C STAD-US 17 80579639 80579639 single base substitution A G upstream_gene_variant STAD-US 17 80579670 80579670 single base substitution A G 3_prime_UTR_variant STAD-US 17 80579670 80579670 single base substitution A G downstream_gene_variant STAD-US 17 80579670 80579670 single base substitution A G exon_variant STAD-US 17 80579670 80579670 single base substitution A G missense_variant C145R 433T>C STAD-US 17 80579670 80579670 single base substitution A G upstream_gene_variant STAD-US 17 80585121 80585121 deletion of <=200bp T - 3_prime_UTR_variant STAD-US 17 80585121 80585121 deletion of <=200bp T - exon_variant STAD-US 17 80585121 80585121 deletion of <=200bp T - frameshift_variant E97 STAD-US 17 80585121 80585121 deletion of <=200bp T - upstream_gene_variant THCA-SA 17 80585094 80585094 single base substitution C T 3_prime_UTR_variant THCA-SA 17 80585094 80585094 single base substitution C T exon_variant THCA-SA 17 80585094 80585094 single base substitution C T synonymous_variant K106K 318G>A THCA-SA 17 80585094 80585094 single base substitution C T upstream_gene_variant THCA-US 17 80574465 80574465 single base substitution T C 3_prime_UTR_variant THCA-US 17 80574465 80574465 single base substitution T C downstream_gene_variant THCA-US 17 80574465 80574465 single base substitution T C exon_variant THCA-US 17 80574465 80574465 single base substitution T C missense_variant K288R 863A>G THCA-US 17 80579584 80579584 single base substitution G A 3_prime_UTR_variant THCA-US 17 80579584 80579584 single base substitution G A exon_variant THCA-US 17 80579584 80579584 single base substitution G A synonymous_variant S173S 519C>T THCA-US 17 80579584 80579584 single base substitution G A upstream_gene_variant UCEC-US 17 80574407 80574407 single base substitution G A 3_prime_UTR_variant UCEC-US 17 80574407 80574407 single base substitution G A downstream_gene_variant UCEC-US 17 80574407 80574407 single base substitution G A exon_variant UCEC-US 17 80574407 80574407 single base substitution G A synonymous_variant A307A 921C>T UCEC-US 17 80585152 80585152 single base substitution T G 3_prime_UTR_variant UCEC-US 17 80585152 80585152 single base substitution T G exon_variant UCEC-US 17 80585152 80585152 single base substitution T G missense_variant D87A 260A>C UCEC-US 17 80585152 80585152 single base substitution T G upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SW620 COSM2807019 c.721G>A p.D241N Substitution - Missense 17:82617381-82617381 - TCGA-AD-6895-01 COSM1387525 c.92A>T p.N31I Substitution - Missense 17:82643999-82643999 - P156 COSM264691 c.919G>A p.A307T Substitution - Missense 17:82616533-82616533 - C135 COSM4617835 c.651A>G p.S217S Substitution - coding silent 17:82619096-82619096 - CSCC-40-T COSM4507009 c.735C>T p.I245I Substitution - coding silent 17:82617367-82617367 - CSCC-62-T COSM4515162 c.9C>A p.L3L Substitution - coding silent 17:82648332-82648332 - TCGA-D3-A3ML-06 COSM3523894 c.765T>C p.H255H Substitution - coding silent 17:82617337-82617337 - TCGA-66-2792-01 COSM708564 c.708C>T p.I236I Substitution - coding silent 17:82617394-82617394 - TCGA-13-1489-01 COSM81912 c.888G>T p.P296P Substitution - coding silent 17:82616564-82616564 - 6P2-2 COSM3734540 c.386C>A p.P129H Substitution - Missense 17:82625430-82625430 - tumor_4104893 COSM3356985 c.1002G>A p.A334A Substitution - coding silent 17:82615952-82615952 - sysucc-1397T COSM5089940 c.623C>T p.T208M Substitution - Missense 17:82619124-82619124 - pfg182T COSM4758085 c.838T>A p.F280I Substitution - Missense 17:82616614-82616614 - TCGA-BH-A18P-01 COSM437843 c.391C>T p.Q131* Substitution - Nonsense 17:82625425-82625425 - EGC23 COSM264691 c.919G>A p.A307T Substitution - Missense 17:82616533-82616533 - CSCC-27-T COSM4495921 c.463C>T p.L155F Substitution - Missense 17:82621764-82621764 - T3336 COSM4740969 c.325C>T p.R109* Substitution - Nonsense 17:82627211-82627211 - TCGA-37-5819-01 COSM708563 c.490G>T p.G164C Substitution - Missense 17:82621737-82621737 - TCGA-AP-A0LM-01 COSM986160 c.260A>C p.D87A Substitution - Missense 17:82627276-82627276 - ESCC_162 COSM5647840 c.888G>C p.P296P Substitution - coding silent 17:82616564-82616564 - P07-837 COSM248324 c.264G>T p.L88L Substitution - coding silent 17:82627272-82627272 - TCGA-D5-6930-01 COSM1387524 c.221_222insA p.P75fs*13 Insertion - Frameshift 17:82630943-82630944 - PALJDL COSM1169348 c.1021G>A p.D341N Substitution - Missense 17:82615933-82615933 - SC_9019 COSM5561677 c.476C>T p.P159L Substitution - Missense 17:82621751-82621751 - TCGA-AX-A0J0-01 COSM986159 c.921C>T p.A307A Substitution - coding silent 17:82616531-82616531 - LOVO COSM2807017 c.753C>T p.H251H Substitution - coding silent 17:82617349-82617349 - TCGA-HU-A4H4-01 COSM4070933 c.433T>C p.C145R Substitution - Missense 17:82621794-82621794 - PTC-28C COSM4130867 c.96A>T p.G32G Substitution - coding silent 17:82643995-82643995 - TCGA-AM-5821-01 COSM3756047 c.494A>G p.H165R Substitution - Missense 17:82621733-82621733 - TCGA-DY-A1DC-01 COSM1564117 c.535G>T p.V179L Substitution - Missense 17:82621692-82621692 - SC_9060 COSM5572611 c.106T>G p.Y36D Substitution - Missense 17:82643985-82643985 - TCGA-EA-A3HR-01 COSM4843259 c.249G>A p.M83I Substitution - Missense 17:82627287-82627287 - PTC-28C COSM4130868 c.95G>A p.G32E Substitution - Missense 17:82643996-82643996 - TCGA-AM-5820-01 COSM3756048 c.318G>A p.K106K Substitution - coding silent 17:82627218-82627218 - I2L-P11-Tumor-Biopsy COSM5363787 c.221delA p.K74fs*9 Deletion - Frameshift 17:82630944-82630944 - J30_T COSM3958965 c.280A>T p.I94F Substitution - Missense 17:82627256-82627256 - TCGA-AG-A002-01 COSM264691 c.919G>A p.A307T Substitution - Missense 17:82616533-82616533 - TCGA-C5-A2LX-01 COSM4827401 c.1024G>A p.D342N Substitution - Missense 17:82615930-82615930 - TCGA-DE-A3KN-01 COSM3370974 c.863A>G p.K288R Substitution - Missense 17:82616589-82616589 - TCGA-DJ-A1QF-01 COSM3370975 c.519C>T p.S173S Substitution - coding silent 17:82621708-82621708 - ESCC_134 COSM5561677 c.476C>T p.P159L Substitution - Missense 17:82621751-82621751 - TCGA-22-5480-01 COSM708562 c.239A>T p.N80I Substitution - Missense 17:82630926-82630926 - TCGA-EE-A2GS-06 COSM3523895 c.462C>T p.S154S Substitution - coding silent 17:82621765-82621765 - OLID15 COSM132785 c.482C>T p.T161M Substitution - Missense 17:82621745-82621745 - TCGA-DK-A1AC-01 COSM1303546 c.840C>T p.F280F Substitution - coding silent 17:82616612-82616612 - ESCC-162T COSM3937669 c.966C>G p.F322L Substitution - Missense 17:82615988-82615988 - I2L-P19Tb-Tumor-Biopsy COSM5364130 c.331A>C p.R111R Substitution - coding silent 17:82627205-82627205 - TCGA-CA-6718-01 COSM1387526 c.77C>T p.A26V Substitution - Missense 17:82644014-82644014 - TCGA-BQ-5894-01 COSM3989451 c.604A>G p.T202A Substitution - Missense 17:82621623-82621623 - TARGET-10-PALJDL-03A-01D COSM1169348 c.1021G>A p.D341N Substitution - Missense 17:82615933-82615933 - CRC-03T COSM5451473 c.999C>T p.Y333Y Substitution - coding silent 17:82615955-82615955 - ccRCC-62 COSM1664993 c.916A>G p.N306D Substitution - Missense 17:82616536-82616536 - C058 COSM5525823 c.874C>T p.P292S Substitution - Missense 17:82616578-82616578 - C91 COSM4444628 c.158G>T p.G53V Substitution - Missense 17:82631007-82631007 - TCGA-A8-A08I-01 COSM437844 c.272_274delAGA p.K91delK Deletion - In frame 17:82627262-82627264 - TCGA-HU-A4GT-01 COSM4070932 c.464T>C p.L155P Substitution - Missense 17:82621763-82621763 - 234 COSM3731224 c.854G>A p.S285N Substitution - Missense 17:82616598-82616598 - HCC138T COSM5819050 c.123A>G p.L41L Substitution - coding silent 17:82643968-82643968 - TCGA-19-1786 COSM2155788 c.272A>G p.K91R Substitution - Missense 17:82627264-82627264 - PD4125a COSM165574 c.685C>G p.Q229E Substitution - Missense 17:82619062-82619062 - STC232 COSM986159 c.921C>T p.A307A Substitution - coding silent 17:82616531-82616531 - TCGA-66-2756-01 COSM708565 c.747C>T p.S249S Substitution - coding silent 17:82617355-82617355 - I2L-P19Tb-Tumor-Organoid COSM5364130 c.331A>C p.R111R Substitution - coding silent 17:82627205-82627205 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.132141;Hs.132158;Hs.132161 17q25.3 609226 2450361|CGAP|BC000974|C/T|non-coding||1092|Candidate; 2450361|CGAP|BC007838|C/T|non-coding||1315|Candidate; 2450368|CGAP|BC000974|C/T|non-coding||2145|Validated; 2450368|CGAP|BC007838|C/T|non-coding||2368|Validated; 2450369|CGAP|BC000974|C/T|non-coding||1501|Validated; 2450369|CGAP|BC007838|C/T|non-coding||1724|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.V308G c.923T>G 17 80574405 BRCA A G Synonymous p.H255H c.765T>C 17 80575213 CM C A Missense p.G164C c.490G>T 17 80579613 LUSC C A Synonymous p.P296P c.888G>T 17 80574440 OV C T Missense p.G52R c.154G>A 17 80588887 LUAD G A 5-UTRSNV . c.1-99C>T 17 80606315 CM G A Synonymous p.I236I c.708C>T 17 80575270 LUSC G A Synonymous p.S154S c.462C>T 17 80579641 CM G A Synonymous p.S173S c.519C>T 17 80579584 THCA G A Synonymous p.S249S c.747C>T 17 80575231 LUSC G C Missense p.F123L c.369C>G 17 80583323 THCA G C Missense p.Q229E c.685C>G 17 80576938 BRCA T A Missense p.N80I c.239A>T 17 80588802 LUSC T C Missense p.K288R c.863A>G 17 80574465 THCA TCT - InFrameDeletion p.K91delK c.272_274delAGA 17 80585138 BRCA T - Frameshift p.E97Dfs*23 c.291delA 17 80585121 STAD