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 4 76434446 76434446 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr4:76434446G>A c.151C>T c.(151-153)Caa>Taa p.Q51* BLCA 4 76439460 76439460 + Nonsense_Mutation SNP G G A TCGA-HQ-A5NE-01A-12D-A289-08 TCGA-HQ-A5NE-10A-01D-A289-08 g.chr4:76439460G>A c.37C>T c.(37-39)Caa>Taa p.Q13* BRCA 4 76415808 76415808 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 g.chr4:76415808G>C c.640C>G c.(640-642)Cag>Gag p.Q214E BRCA 4 76439444 76439444 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr4:76439444C>T c.53G>A c.(52-54)cGg>cAg p.R18Q CESC 4 76439453 76439453 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 g.chr4:76439453C>T c.44G>A c.(43-45)cGa>cAa p.R15Q COAD 4 76407852 76407852 + Nonsense_Mutation SNP G G A TCGA-AA-3872-01A-01W-0995-10 TCGA-AA-3872-10A-01W-0995-10 g.chr4:76407852G>A c.682C>T c.(682-684)Cga>Tga p.R228* COAD 4 76407873 76407873 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:76407873G>T c.661C>A c.(661-663)Ctc>Atc p.L221I COAD 4 76434062 76434064 + In_Frame_Del DEL CTT CTT - TCGA-D5-6924-01A-11D-1924-10 TCGA-D5-6924-10A-01D-1924-10 g.chr4:76434062_76434064delCTT c.292_294delAAG c.(292-294)aagdel p.K98del COAD 4 76434395 76434395 + Frame_Shift_Del DEL T T - TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr4:76434395delT c.202delA c.(202-204)attfs p.I68fs COADREAD 4 76407852 76407852 + Nonsense_Mutation SNP G G A TCGA-AA-3872-01A-01W-0995-10 TCGA-AA-3872-10A-01W-0995-10 g.chr4:76407852G>A c.682C>T c.(682-684)Cga>Tga p.R228* COADREAD 4 76407873 76407873 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:76407873G>T c.661C>A c.(661-663)Ctc>Atc p.L221I COADREAD 4 76434062 76434064 + In_Frame_Del DEL CTT CTT - TCGA-D5-6924-01A-11D-1924-10 TCGA-D5-6924-10A-01D-1924-10 g.chr4:76434062_76434064delCTT c.292_294delAAG c.(292-294)aagdel p.K98del COADREAD 4 76434395 76434395 + Frame_Shift_Del DEL T T - TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr4:76434395delT c.202delA c.(202-204)attfs p.I68fs ESCA 4 76407852 76407852 + Nonsense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr4:76407852G>A c.682C>T c.(682-684)Cga>Tga p.R228* ESCA 4 76407873 76407873 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 g.chr4:76407873G>T c.661C>A c.(661-663)Ctc>Atc p.L221I ESCA 4 76439454 76439454 + Nonsense_Mutation SNP G G A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 g.chr4:76439454G>A c.43C>T c.(43-45)Cga>Tga p.R15* GBMLGG 4 76419364 76419364 + Frame_Shift_Del DEL G G - TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 g.chr4:76419364delG c.352delC c.(352-354)catfs p.H118fs GBMLGG 4 76434492 76434492 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:76434492G>A c.105C>T c.(103-105)gaC>gaT p.D35D HNSC 4 76407873 76407873 + Missense_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 g.chr4:76407873G>C c.661C>G c.(661-663)Ctc>Gtc p.L221V HNSC 4 76415818 76415818 + Silent SNP T T C TCGA-CV-7245-01A-11D-2012-08 TCGA-CV-7245-10A-01D-2013-08 g.chr4:76415818T>C c.630A>G c.(628-630)ccA>ccG p.P210P HNSC 4 76439452 76439452 + Silent SNP T T G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 g.chr4:76439452T>G c.45A>C c.(43-45)cgA>cgC p.R15R KIPAN 4 76415883 76415883 + Missense_Mutation SNP A A C TCGA-DW-7840-01A-11D-2136-08 TCGA-DW-7840-10A-01D-2136-08 g.chr4:76415883A>C c.565T>G c.(565-567)Tct>Gct p.S189A KIPAN 4 76416940 76416940 + Frame_Shift_Del DEL A A - TCGA-P4-A5EB-01A-11D-A28G-10 TCGA-P4-A5EB-11A-11D-A28G-10 g.chr4:76416940delA c.503delT c.(502-504)ttafs p.L168fs KIPAN 4 76439476 76439476 + Silent SNP T T C TCGA-BQ-5887-01A-11D-1961-08 TCGA-BQ-5887-11A-01D-1961-08 g.chr4:76439476T>C c.21A>G c.(19-21)gaA>gaG p.E7E KIRP 4 76415883 76415883 + Missense_Mutation SNP A A C TCGA-DW-7840-01A-11D-2136-08 TCGA-DW-7840-10A-01D-2136-08 g.chr4:76415883A>C c.565T>G c.(565-567)Tct>Gct p.S189A KIRP 4 76416940 76416940 + Frame_Shift_Del DEL A A - TCGA-P4-A5EB-01A-11D-A28G-10 TCGA-P4-A5EB-11A-11D-A28G-10 g.chr4:76416940delA c.503delT c.(502-504)ttafs p.L168fs KIRP 4 76439476 76439476 + Silent SNP T T C TCGA-BQ-5887-01A-11D-1961-08 TCGA-BQ-5887-11A-01D-1961-08 g.chr4:76439476T>C c.21A>G c.(19-21)gaA>gaG p.E7E LGG 4 76419364 76419364 + Frame_Shift_Del DEL G G - TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 g.chr4:76419364delG c.352delC c.(352-354)catfs p.H118fs LGG 4 76434492 76434492 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:76434492G>A c.105C>T c.(103-105)gaC>gaT p.D35D LIHC 4 76415820 76415820 + Missense_Mutation SNP G G A TCGA-G3-A3CG-01A-11D-A20W-10 TCGA-G3-A3CG-10A-01D-A20W-10 g.chr4:76415820G>A c.628C>T c.(628-630)Cca>Tca p.P210S LUAD 4 76415855 76415855 + Missense_Mutation SNP C C A TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr4:76415855C>A c.593G>T c.(592-594)aGa>aTa p.R198I LUAD 4 76416960 76416960 + Silent SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 g.chr4:76416960G>A c.483C>T c.(481-483)gtC>gtT p.V161V LUAD 4 76417106 76417106 + Missense_Mutation SNP C C A TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr4:76417106C>A c.443G>T c.(442-444)tGt>tTt p.C148F LUAD 4 76434498 76434498 + Silent SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr4:76434498G>A c.99C>T c.(97-99)tgC>tgT p.C33C OV 4 76434436 76434436 + Missense_Mutation SNP C C T TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 g.chr4:76434436C>T c.161G>A c.(160-162)cGc>cAc p.R54H PRAD 4 76417113 76417113 + Missense_Mutation SNP G G T TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-10A-01D-2114-08 g.chr4:76417113G>T c.436C>A c.(436-438)Cca>Aca p.P146T PRAD 4 76434475 76434475 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr4:76434475C>T c.122G>A c.(121-123)cGc>cAc p.R41H

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 4 76434446 76434446 single base substitution G A exon_variant BLCA-US 4 76434446 76434446 single base substitution G A intron_variant BLCA-US 4 76434446 76434446 single base substitution G A stop_gained Q29* 85C>T BLCA-US 4 76434446 76434446 single base substitution G A stop_gained Q51* 151C>T BOCA-FR 4 76407076 76407076 single base substitution T A 3_prime_UTR_variant BOCA-FR 4 76407076 76407076 single base substitution T A downstream_gene_variant BOCA-FR 4 76434213 76434213 single base substitution A C intron_variant BRCA-EU 4 76399870 76399870 single base substitution T C downstream_gene_variant BRCA-EU 4 76400219 76400219 single base substitution C G downstream_gene_variant BRCA-EU 4 76400724 76400724 insertion of <=200bp - A downstream_gene_variant BRCA-EU 4 76400780 76400780 single base substitution G C downstream_gene_variant BRCA-EU 4 76400866 76400866 single base substitution T C downstream_gene_variant BRCA-EU 4 76401677 76401677 deletion of <=200bp T - downstream_gene_variant BRCA-EU 4 76404694 76404694 single base substitution T C 3_prime_UTR_variant BRCA-EU 4 76404694 76404694 single base substitution T C downstream_gene_variant BRCA-EU 4 76406861 76406861 single base substitution G A 3_prime_UTR_variant BRCA-EU 4 76406861 76406861 single base substitution G A downstream_gene_variant BRCA-EU 4 76407395 76407395 single base substitution C G 3_prime_UTR_variant BRCA-EU 4 76407395 76407395 single base substitution C G downstream_gene_variant BRCA-EU 4 76407395 76407395 single base substitution C G exon_variant BRCA-EU 4 76407575 76407575 single base substitution G A 3_prime_UTR_variant BRCA-EU 4 76407575 76407575 single base substitution G A downstream_gene_variant BRCA-EU 4 76407575 76407575 single base substitution G A exon_variant BRCA-EU 4 76408385 76408385 single base substitution G C intron_variant BRCA-EU 4 76409515 76409515 single base substitution G A intron_variant BRCA-EU 4 76410188 76410188 deletion of <=200bp A - intron_variant BRCA-EU 4 76410391 76410391 single base substitution G T intron_variant BRCA-EU 4 76410799 76410799 single base substitution G A intron_variant BRCA-EU 4 76411526 76411526 single base substitution T C downstream_gene_variant BRCA-EU 4 76411526 76411526 single base substitution T C intron_variant BRCA-EU 4 76413473 76413473 single base substitution T A downstream_gene_variant BRCA-EU 4 76413473 76413473 single base substitution T A intron_variant BRCA-EU 4 76413474 76413474 single base substitution G A downstream_gene_variant BRCA-EU 4 76413474 76413474 single base substitution G A intron_variant BRCA-EU 4 76414972 76414972 single base substitution A G downstream_gene_variant BRCA-EU 4 76414972 76414972 single base substitution A G intron_variant BRCA-EU 4 76415602 76415602 deletion of <=200bp T - downstream_gene_variant BRCA-EU 4 76415602 76415602 deletion of <=200bp T - intron_variant BRCA-EU 4 76417165 76417165 single base substitution A T intron_variant BRCA-EU 4 76418853 76418853 single base substitution T A intron_variant BRCA-EU 4 76419758 76419758 single base substitution A T intron_variant BRCA-EU 4 76419758 76419758 single base substitution A T upstream_gene_variant BRCA-EU 4 76420670 76420670 single base substitution C A intron_variant BRCA-EU 4 76420670 76420670 single base substitution C A upstream_gene_variant BRCA-EU 4 76420716 76420716 single base substitution G C intron_variant BRCA-EU 4 76420716 76420716 single base substitution G C upstream_gene_variant BRCA-EU 4 76421203 76421203 single base substitution G A intron_variant BRCA-EU 4 76421203 76421203 single base substitution G A upstream_gene_variant BRCA-EU 4 76422107 76422107 single base substitution A G intron_variant BRCA-EU 4 76422107 76422107 single base substitution A G upstream_gene_variant BRCA-EU 4 76423220 76423220 single base substitution G C intron_variant BRCA-EU 4 76423220 76423220 single base substitution G C upstream_gene_variant BRCA-EU 4 76424082 76424082 single base substitution G A intron_variant BRCA-EU 4 76424082 76424082 single base substitution G A upstream_gene_variant BRCA-EU 4 76424599 76424599 single base substitution T C intron_variant BRCA-EU 4 76424599 76424599 single base substitution T C upstream_gene_variant BRCA-EU 4 76425033 76425037 multiple base substitution (>=2bp and <=200bp) TATAC TCA intron_variant BRCA-EU 4 76427737 76427737 single base substitution G A intron_variant BRCA-EU 4 76428504 76428504 single base substitution G A intron_variant BRCA-EU 4 76430948 76430948 single base substitution G C intron_variant BRCA-EU 4 76433317 76433317 deletion of <=200bp A - intron_variant BRCA-EU 4 76435931 76435931 single base substitution G A intron_variant BRCA-EU 4 76435931 76435931 single base substitution G A upstream_gene_variant BRCA-EU 4 76436413 76436413 single base substitution T C intron_variant BRCA-EU 4 76436413 76436413 single base substitution T C upstream_gene_variant BRCA-EU 4 76436488 76436488 insertion of <=200bp - A intron_variant BRCA-EU 4 76436488 76436488 insertion of <=200bp - A upstream_gene_variant BRCA-EU 4 76437736 76437736 single base substitution C T intron_variant BRCA-EU 4 76437736 76437736 single base substitution C T upstream_gene_variant BRCA-EU 4 76438825 76438825 single base substitution T A intron_variant BRCA-EU 4 76438825 76438825 single base substitution T A upstream_gene_variant BRCA-EU 4 76439695 76439695 single base substitution C G 5_prime_UTR_variant BRCA-EU 4 76439695 76439695 single base substitution C G intron_variant BRCA-EU 4 76439695 76439695 single base substitution C G upstream_gene_variant BRCA-EU 4 76439708 76439708 single base substitution A G 5_prime_UTR_variant BRCA-EU 4 76439708 76439708 single base substitution A G intron_variant BRCA-EU 4 76439708 76439708 single base substitution A G upstream_gene_variant BRCA-EU 4 76440325 76440325 single base substitution G A upstream_gene_variant BRCA-EU 4 76442259 76442259 single base substitution C T upstream_gene_variant BRCA-EU 4 76443304 76443304 single base substitution A G upstream_gene_variant BRCA-EU 4 76443375 76443375 single base substitution G A upstream_gene_variant BRCA-EU 4 76443739 76443739 single base substitution C A upstream_gene_variant BRCA-FR 4 76404981 76404981 single base substitution C A 3_prime_UTR_variant BRCA-FR 4 76404981 76404981 single base substitution C A downstream_gene_variant BRCA-FR 4 76406861 76406861 single base substitution G A 3_prime_UTR_variant BRCA-FR 4 76406861 76406861 single base substitution G A downstream_gene_variant BRCA-FR 4 76409515 76409515 single base substitution G A intron_variant BRCA-FR 4 76427737 76427737 single base substitution G A intron_variant BRCA-FR 4 76430948 76430948 single base substitution G C intron_variant BRCA-FR 4 76439213 76439213 single base substitution G A intron_variant BRCA-FR 4 76439213 76439213 single base substitution G A upstream_gene_variant BRCA-FR 4 76440325 76440325 single base substitution G A upstream_gene_variant BRCA-FR 4 76443304 76443304 single base substitution A G upstream_gene_variant BRCA-UK 4 76402190 76402190 single base substitution G A downstream_gene_variant BRCA-US 4 76415808 76415808 single base substitution G C 3_prime_UTR_variant BRCA-US 4 76415808 76415808 single base substitution G C downstream_gene_variant BRCA-US 4 76415808 76415808 single base substitution G C exon_variant BRCA-US 4 76415808 76415808 single base substitution G C missense_variant Q165E 493C>G BRCA-US 4 76415808 76415808 single base substitution G C missense_variant Q174E 520C>G BRCA-US 4 76415808 76415808 single base substitution G C missense_variant Q192E 574C>G BRCA-US 4 76415808 76415808 single base substitution G C missense_variant Q205E 613C>G BRCA-US 4 76415808 76415808 single base substitution G C missense_variant Q214E 640C>G BRCA-US 4 76439444 76439444 single base substitution C T exon_variant BRCA-US 4 76439444 76439444 single base substitution C T intron_variant BRCA-US 4 76439444 76439444 single base substitution C T missense_variant R18Q 53G>A BRCA-US 4 76439444 76439444 single base substitution C T upstream_gene_variant BTCA-JP 4 76415637 76415637 single base substitution T G downstream_gene_variant BTCA-JP 4 76415637 76415637 single base substitution T G intron_variant BTCA-JP 4 76415705 76415705 insertion of <=200bp - A downstream_gene_variant BTCA-JP 4 76415705 76415705 insertion of <=200bp - A intron_variant BTCA-JP 4 76434147 76434147 single base substitution T A splice_acceptor_variant BTCA-JP 4 76434579 76434579 single base substitution T G exon_variant BTCA-JP 4 76434579 76434579 single base substitution T G intron_variant BTCA-JP 4 76439391 76439391 single base substitution C T exon_variant BTCA-JP 4 76439391 76439391 single base substitution C T intron_variant BTCA-JP 4 76439391 76439391 single base substitution C T upstream_gene_variant BTCA-JP 4 76442067 76442067 deletion of <=200bp A - upstream_gene_variant CESC-US 4 76439453 76439453 single base substitution C T exon_variant CESC-US 4 76439453 76439453 single base substitution C T intron_variant CESC-US 4 76439453 76439453 single base substitution C T missense_variant E8K 22G>A CESC-US 4 76439453 76439453 single base substitution C T missense_variant R15Q 44G>A CESC-US 4 76439453 76439453 single base substitution C T upstream_gene_variant CLLE-ES 4 76412840 76412840 deletion of <=200bp A - downstream_gene_variant CLLE-ES 4 76412840 76412840 deletion of <=200bp A - intron_variant COAD-US 4 76434062 76434064 deletion of <=200bp CTT - exon_variant COAD-US 4 76434062 76434064 deletion of <=200bp CTT - inframe_deletion K58 COAD-US 4 76434062 76434064 deletion of <=200bp CTT - inframe_deletion K76 COAD-US 4 76434062 76434064 deletion of <=200bp CTT - inframe_deletion K98 COAD-US 4 76434395 76434395 deletion of <=200bp T - exon_variant COAD-US 4 76434395 76434395 deletion of <=200bp T - frameshift_variant I46 COAD-US 4 76434395 76434395 deletion of <=200bp T - frameshift_variant I68 COAD-US 4 76434395 76434395 deletion of <=200bp T - intron_variant COCA-CN 4 76419488 76419488 single base substitution T A exon_variant COCA-CN 4 76419488 76419488 single base substitution T A intron_variant COCA-CN 4 76434354 76434354 single base substitution T A intron_variant COCA-CN 4 76438127 76438127 single base substitution C G intron_variant COCA-CN 4 76438127 76438127 single base substitution C G upstream_gene_variant COCA-CN 4 76440792 76440792 single base substitution G T upstream_gene_variant EOPC-DE 4 76424395 76424395 single base substitution C T intron_variant EOPC-DE 4 76424395 76424395 single base substitution C T upstream_gene_variant EOPC-DE 4 76434907 76434907 single base substitution C T exon_variant EOPC-DE 4 76434907 76434907 single base substitution C T intron_variant ESAD-UK 4 76400226 76400226 single base substitution A T downstream_gene_variant ESAD-UK 4 76402367 76402367 single base substitution G A downstream_gene_variant ESAD-UK 4 76403386 76403386 single base substitution A C downstream_gene_variant ESAD-UK 4 76404189 76404192 deletion of <=200bp GGGA - downstream_gene_variant ESAD-UK 4 76406227 76406227 single base substitution G C 3_prime_UTR_variant ESAD-UK 4 76406227 76406227 single base substitution G C downstream_gene_variant ESAD-UK 4 76407185 76407185 single base substitution T C 3_prime_UTR_variant ESAD-UK 4 76407185 76407185 single base substitution T C downstream_gene_variant ESAD-UK 4 76412137 76412137 single base substitution C A downstream_gene_variant ESAD-UK 4 76412137 76412137 single base substitution C A intron_variant ESAD-UK 4 76415705 76415705 single base substitution T A downstream_gene_variant ESAD-UK 4 76415705 76415705 single base substitution T A intron_variant ESAD-UK 4 76416940 76416940 insertion of <=200bp - A 3_prime_UTR_variant ESAD-UK 4 76416940 76416940 insertion of <=200bp - A downstream_gene_variant ESAD-UK 4 76416940 76416940 insertion of <=200bp - A exon_variant ESAD-UK 4 76416940 76416940 insertion of <=200bp - A frameshift_variant L128F? ESAD-UK 4 76416940 76416940 insertion of <=200bp - A frameshift_variant L146F? ESAD-UK 4 76416940 76416940 insertion of <=200bp - A frameshift_variant L168F? ESAD-UK 4 76419480 76419480 deletion of <=200bp A - exon_variant ESAD-UK 4 76419480 76419480 deletion of <=200bp A - intron_variant ESAD-UK 4 76421783 76421783 single base substitution T A intron_variant ESAD-UK 4 76421783 76421783 single base substitution T A upstream_gene_variant ESAD-UK 4 76422110 76422110 single base substitution C A intron_variant ESAD-UK 4 76422110 76422110 single base substitution C A upstream_gene_variant ESAD-UK 4 76423092 76423092 single base substitution A C intron_variant ESAD-UK 4 76423092 76423092 single base substitution A C upstream_gene_variant ESAD-UK 4 76427733 76427733 single base substitution G A intron_variant ESAD-UK 4 76432468 76432468 single base substitution G A intron_variant ESAD-UK 4 76433316 76433316 single base substitution C A intron_variant ESAD-UK 4 76433317 76433317 single base substitution A C intron_variant ESAD-UK 4 76434732 76434732 single base substitution C A exon_variant ESAD-UK 4 76434732 76434732 single base substitution C A intron_variant ESAD-UK 4 76436049 76436049 deletion of <=200bp T - intron_variant ESAD-UK 4 76436049 76436049 deletion of <=200bp T - upstream_gene_variant ESAD-UK 4 76436429 76436429 single base substitution A G intron_variant ESAD-UK 4 76436429 76436429 single base substitution A G upstream_gene_variant ESAD-UK 4 76438060 76438060 single base substitution A C intron_variant ESAD-UK 4 76438060 76438060 single base substitution A C upstream_gene_variant ESAD-UK 4 76438072 76438072 single base substitution A G intron_variant ESAD-UK 4 76438072 76438072 single base substitution A G upstream_gene_variant ESAD-UK 4 76440087 76440087 single base substitution C T upstream_gene_variant ESAD-UK 4 76442687 76442687 single base substitution C G upstream_gene_variant ESCA-CN 4 76442226 76442226 single base substitution C T upstream_gene_variant KIRC-US 4 76440718 76440721 deletion of <=200bp AGTT - upstream_gene_variant KIRP-US 4 76415883 76415883 single base substitution A C 3_prime_UTR_variant KIRP-US 4 76415883 76415883 single base substitution A C downstream_gene_variant KIRP-US 4 76415883 76415883 single base substitution A C exon_variant KIRP-US 4 76415883 76415883 single base substitution A C intron_variant KIRP-US 4 76415883 76415883 single base substitution A C missense_variant L188R 563T>G KIRP-US 4 76415883 76415883 single base substitution A C missense_variant S140A 418T>G KIRP-US 4 76415883 76415883 single base substitution A C missense_variant S149A 445T>G KIRP-US 4 76415883 76415883 single base substitution A C missense_variant S167A 499T>G KIRP-US 4 76415883 76415883 single base substitution A C missense_variant S180A 538T>G KIRP-US 4 76415883 76415883 single base substitution A C missense_variant S189A 565T>G KIRP-US 4 76416940 76416940 deletion of <=200bp A - 3_prime_UTR_variant KIRP-US 4 76416940 76416940 deletion of <=200bp A - downstream_gene_variant KIRP-US 4 76416940 76416940 deletion of <=200bp A - exon_variant KIRP-US 4 76416940 76416940 deletion of <=200bp A - frameshift_variant L128 KIRP-US 4 76416940 76416940 deletion of <=200bp A - frameshift_variant L146 KIRP-US 4 76416940 76416940 deletion of <=200bp A - frameshift_variant L168 KIRP-US 4 76439476 76439476 single base substitution T C 5_prime_UTR_variant KIRP-US 4 76439476 76439476 single base substitution T C exon_variant KIRP-US 4 76439476 76439476 single base substitution T C intron_variant KIRP-US 4 76439476 76439476 single base substitution T C synonymous_variant E7E 21A>G KIRP-US 4 76439476 76439476 single base substitution T C upstream_gene_variant LAML-KR 4 76431836 76431836 single base substitution T A intron_variant LICA-CN 4 76416957 76416957 single base substitution C T 3_prime_UTR_variant LICA-CN 4 76416957 76416957 single base substitution C T downstream_gene_variant LICA-CN 4 76416957 76416957 single base substitution C T exon_variant LICA-CN 4 76416957 76416957 single base substitution C T synonymous_variant L122L 366G>A LICA-CN 4 76416957 76416957 single base substitution C T synonymous_variant L140L 420G>A LICA-CN 4 76416957 76416957 single base substitution C T synonymous_variant L162L 486G>A LICA-FR 4 76408365 76408365 single base substitution C T intron_variant LICA-FR 4 76410985 76410985 single base substitution G A downstream_gene_variant LICA-FR 4 76410985 76410985 single base substitution G A intron_variant LICA-FR 4 76417687 76417687 single base substitution C G intron_variant LICA-FR 4 76442227 76442227 insertion of <=200bp - TT upstream_gene_variant LINC-JP 4 76407952 76407952 single base substitution G C intron_variant LINC-JP 4 76425643 76425643 single base substitution G A intron_variant LINC-JP 4 76438398 76438398 single base substitution G C intron_variant LINC-JP 4 76438398 76438398 single base substitution G C upstream_gene_variant LINC-JP 4 76441369 76441369 single base substitution A C upstream_gene_variant LINC-JP 4 76441870 76441870 single base substitution A G upstream_gene_variant LINC-JP 4 76442560 76442560 single base substitution T G upstream_gene_variant LIRI-JP 4 76399928 76399928 single base substitution G T downstream_gene_variant LIRI-JP 4 76400184 76400184 single base substitution C A downstream_gene_variant LIRI-JP 4 76400364 76400364 single base substitution T C downstream_gene_variant LIRI-JP 4 76403042 76403042 single base substitution T C downstream_gene_variant LIRI-JP 4 76404227 76404227 single base substitution C T downstream_gene_variant LIRI-JP 4 76404799 76404799 single base substitution T G 3_prime_UTR_variant LIRI-JP 4 76404799 76404799 single base substitution T G downstream_gene_variant LIRI-JP 4 76407018 76407018 single base substitution C A 3_prime_UTR_variant LIRI-JP 4 76407018 76407018 single base substitution C A downstream_gene_variant LIRI-JP 4 76407408 76407408 single base substitution T A 3_prime_UTR_variant LIRI-JP 4 76407408 76407408 single base substitution T A downstream_gene_variant LIRI-JP 4 76407408 76407408 single base substitution T A exon_variant LIRI-JP 4 76408452 76408452 single base substitution A C intron_variant LIRI-JP 4 76409914 76409914 single base substitution G A intron_variant LIRI-JP 4 76411509 76411509 single base substitution T C downstream_gene_variant LIRI-JP 4 76411509 76411509 single base substitution T C intron_variant LIRI-JP 4 76412566 76412566 single base substitution G A downstream_gene_variant LIRI-JP 4 76412566 76412566 single base substitution G A intron_variant LIRI-JP 4 76413608 76413608 single base substitution G C downstream_gene_variant LIRI-JP 4 76413608 76413608 single base substitution G C intron_variant LIRI-JP 4 76416859 76416859 single base substitution T G downstream_gene_variant LIRI-JP 4 76416859 76416859 single base substitution T G exon_variant LIRI-JP 4 76416859 76416859 single base substitution T G intron_variant LIRI-JP 4 76417948 76417948 single base substitution T A intron_variant LIRI-JP 4 76421235 76421235 single base substitution C A intron_variant LIRI-JP 4 76421235 76421235 single base substitution C A upstream_gene_variant LIRI-JP 4 76424600 76424600 single base substitution A G intron_variant LIRI-JP 4 76424600 76424600 single base substitution A G upstream_gene_variant LIRI-JP 4 76424853 76424853 single base substitution T C intron_variant LIRI-JP 4 76425415 76425415 single base substitution C A intron_variant LIRI-JP 4 76425885 76425885 single base substitution T G intron_variant LIRI-JP 4 76426213 76426213 single base substitution T C intron_variant LIRI-JP 4 76426822 76426822 single base substitution T C intron_variant LIRI-JP 4 76432862 76432862 single base substitution T C intron_variant LIRI-JP 4 76435413 76435413 single base substitution A T intron_variant LIRI-JP 4 76435413 76435413 single base substitution A T upstream_gene_variant LIRI-JP 4 76435822 76435822 single base substitution T C intron_variant LIRI-JP 4 76435822 76435822 single base substitution T C upstream_gene_variant LIRI-JP 4 76437808 76437808 single base substitution C A intron_variant LIRI-JP 4 76437808 76437808 single base substitution C A upstream_gene_variant LIRI-JP 4 76438436 76438436 single base substitution G A intron_variant LIRI-JP 4 76438436 76438436 single base substitution G A upstream_gene_variant LIRI-JP 4 76438437 76438437 single base substitution C A intron_variant LIRI-JP 4 76438437 76438437 single base substitution C A upstream_gene_variant LIRI-JP 4 76441576 76441576 single base substitution A G upstream_gene_variant LIRI-JP 4 76443038 76443038 single base substitution G T upstream_gene_variant LIRI-JP 4 76443717 76443717 single base substitution A G upstream_gene_variant LUSC-KR 4 76399560 76399560 single base substitution G A downstream_gene_variant LUSC-KR 4 76403511 76403511 single base substitution C T downstream_gene_variant LUSC-KR 4 76404583 76404583 single base substitution T G 3_prime_UTR_variant LUSC-KR 4 76404583 76404583 single base substitution T G downstream_gene_variant LUSC-KR 4 76404759 76404759 single base substitution C A 3_prime_UTR_variant LUSC-KR 4 76404759 76404759 single base substitution C A downstream_gene_variant LUSC-KR 4 76405185 76405185 single base substitution T C 3_prime_UTR_variant LUSC-KR 4 76405185 76405185 single base substitution T C downstream_gene_variant LUSC-KR 4 76405900 76405900 single base substitution G C 3_prime_UTR_variant LUSC-KR 4 76405900 76405900 single base substitution G C downstream_gene_variant LUSC-KR 4 76406388 76406388 single base substitution G A 3_prime_UTR_variant LUSC-KR 4 76406388 76406388 single base substitution G A downstream_gene_variant LUSC-KR 4 76415985 76415985 single base substitution G A downstream_gene_variant LUSC-KR 4 76415985 76415985 single base substitution G A exon_variant LUSC-KR 4 76415985 76415985 single base substitution G A intron_variant LUSC-KR 4 76416266 76416266 single base substitution A T downstream_gene_variant LUSC-KR 4 76416266 76416266 single base substitution A T exon_variant LUSC-KR 4 76416266 76416266 single base substitution A T intron_variant LUSC-KR 4 76416779 76416779 single base substitution G A downstream_gene_variant LUSC-KR 4 76416779 76416779 single base substitution G A exon_variant LUSC-KR 4 76416779 76416779 single base substitution G A intron_variant LUSC-KR 4 76420749 76420749 single base substitution G A intron_variant LUSC-KR 4 76420749 76420749 single base substitution G A upstream_gene_variant LUSC-KR 4 76436930 76436930 single base substitution G C intron_variant LUSC-KR 4 76436930 76436930 single base substitution G C upstream_gene_variant MALY-DE 4 76400199 76400199 single base substitution A G downstream_gene_variant MALY-DE 4 76401506 76401506 single base substitution A G downstream_gene_variant MALY-DE 4 76403501 76403501 single base substitution G C downstream_gene_variant MALY-DE 4 76412383 76412383 single base substitution A T downstream_gene_variant MALY-DE 4 76412383 76412383 single base substitution A T intron_variant MALY-DE 4 76422860 76422860 single base substitution A C intron_variant MALY-DE 4 76422860 76422860 single base substitution A C upstream_gene_variant MALY-DE 4 76423928 76423928 insertion of <=200bp - A intron_variant MALY-DE 4 76423928 76423928 insertion of <=200bp - A upstream_gene_variant MALY-DE 4 76428933 76428933 single base substitution T C intron_variant MALY-DE 4 76434428 76434428 single base substitution C A exon_variant MALY-DE 4 76434428 76434428 single base substitution C A intron_variant MALY-DE 4 76434428 76434428 single base substitution C A missense_variant V35L 103G>T MALY-DE 4 76434428 76434428 single base substitution C A missense_variant V57L 169G>T MALY-DE 4 76435778 76435778 single base substitution G A intron_variant MALY-DE 4 76435778 76435778 single base substitution G A upstream_gene_variant MALY-DE 4 76436468 76436468 single base substitution G A intron_variant MALY-DE 4 76436468 76436468 single base substitution G A upstream_gene_variant MALY-DE 4 76442976 76442976 single base substitution C A upstream_gene_variant MELA-AU 4 76399864 76399864 single base substitution G A downstream_gene_variant MELA-AU 4 76399937 76399937 single base substitution G A downstream_gene_variant MELA-AU 4 76400098 76400098 single base substitution G A downstream_gene_variant MELA-AU 4 76400361 76400361 single base substitution G A downstream_gene_variant MELA-AU 4 76401022 76401022 single base substitution G A downstream_gene_variant MELA-AU 4 76401388 76401388 single base substitution A G downstream_gene_variant MELA-AU 4 76402194 76402195 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 4 76402550 76402550 single base substitution G A downstream_gene_variant MELA-AU 4 76403710 76403710 single base substitution G A downstream_gene_variant MELA-AU 4 76403821 76403821 single base substitution T C downstream_gene_variant MELA-AU 4 76404877 76404877 single base substitution G A 3_prime_UTR_variant MELA-AU 4 76404877 76404877 single base substitution G A downstream_gene_variant MELA-AU 4 76405132 76405132 single base substitution G A 3_prime_UTR_variant MELA-AU 4 76405132 76405132 single base substitution G A downstream_gene_variant MELA-AU 4 76405637 76405637 single base substitution G A 3_prime_UTR_variant MELA-AU 4 76405637 76405637 single base substitution G A downstream_gene_variant MELA-AU 4 76406145 76406145 single base substitution G A 3_prime_UTR_variant MELA-AU 4 76406145 76406145 single base substitution G A downstream_gene_variant MELA-AU 4 76406396 76406396 single base substitution A G 3_prime_UTR_variant MELA-AU 4 76406396 76406396 single base substitution A G downstream_gene_variant MELA-AU 4 76406832 76406832 single base substitution G A 3_prime_UTR_variant MELA-AU 4 76406832 76406832 single base substitution G A downstream_gene_variant MELA-AU 4 76407374 76407374 single base substitution G A 3_prime_UTR_variant MELA-AU 4 76407374 76407374 single base substitution G A downstream_gene_variant MELA-AU 4 76407374 76407374 single base substitution G A exon_variant MELA-AU 4 76407571 76407571 single base substitution A G 3_prime_UTR_variant MELA-AU 4 76407571 76407571 single base substitution A G downstream_gene_variant MELA-AU 4 76407571 76407571 single base substitution A G exon_variant MELA-AU 4 76408319 76408319 single base substitution C T intron_variant MELA-AU 4 76409834 76409834 single base substitution G A intron_variant MELA-AU 4 76409941 76409941 single base substitution G A intron_variant MELA-AU 4 76410304 76410304 single base substitution C T intron_variant MELA-AU 4 76411318 76411318 single base substitution G A downstream_gene_variant MELA-AU 4 76411318 76411318 single base substitution G A intron_variant MELA-AU 4 76411695 76411695 single base substitution G A downstream_gene_variant MELA-AU 4 76411695 76411695 single base substitution G A intron_variant MELA-AU 4 76413009 76413009 single base substitution A C downstream_gene_variant MELA-AU 4 76413009 76413009 single base substitution A C intron_variant MELA-AU 4 76413328 76413328 single base substitution G A downstream_gene_variant MELA-AU 4 76413328 76413328 single base substitution G A intron_variant MELA-AU 4 76414106 76414106 single base substitution G A downstream_gene_variant MELA-AU 4 76414106 76414106 single base substitution G A intron_variant MELA-AU 4 76414821 76414821 single base substitution G A downstream_gene_variant MELA-AU 4 76414821 76414821 single base substitution G A intron_variant MELA-AU 4 76415026 76415026 single base substitution G A downstream_gene_variant MELA-AU 4 76415026 76415026 single base substitution G A intron_variant MELA-AU 4 76415320 76415320 single base substitution G A downstream_gene_variant MELA-AU 4 76415320 76415320 single base substitution G A intron_variant MELA-AU 4 76415426 76415426 single base substitution G A downstream_gene_variant MELA-AU 4 76415426 76415426 single base substitution G A intron_variant MELA-AU 4 76415919 76415919 single base substitution A T downstream_gene_variant MELA-AU 4 76415919 76415919 single base substitution A T exon_variant MELA-AU 4 76415919 76415919 single base substitution A T intron_variant MELA-AU 4 76415919 76415919 single base substitution A T splice_region_variant MELA-AU 4 76416708 76416708 single base substitution A T downstream_gene_variant MELA-AU 4 76416708 76416708 single base substitution A T exon_variant MELA-AU 4 76416708 76416708 single base substitution A T intron_variant MELA-AU 4 76416864 76416864 single base substitution G A downstream_gene_variant MELA-AU 4 76416864 76416864 single base substitution G A exon_variant MELA-AU 4 76416864 76416864 single base substitution G A intron_variant MELA-AU 4 76416910 76416926 deletion of <=200bp ATTGAGAAAAAGATGTT - downstream_gene_variant MELA-AU 4 76416910 76416926 deletion of <=200bp ATTGAGAAAAAGATGTT - exon_variant MELA-AU 4 76416910 76416926 deletion of <=200bp ATTGAGAAAAAGATGTT - splice_region_variant MELA-AU 4 76417125 76417125 single base substitution G A 3_prime_UTR_variant MELA-AU 4 76417125 76417125 single base substitution G A exon_variant MELA-AU 4 76417125 76417125 single base substitution G A stop_gained R102* 304C>T MELA-AU 4 76417125 76417125 single base substitution G A stop_gained R120* 358C>T MELA-AU 4 76417125 76417125 single base substitution G A stop_gained R142* 424C>T MELA-AU 4 76417465 76417468 deletion of <=200bp TTAT - intron_variant MELA-AU 4 76417808 76417808 single base substitution G A intron_variant MELA-AU 4 76419442 76419442 single base substitution G A exon_variant MELA-AU 4 76419442 76419442 single base substitution G A intron_variant MELA-AU 4 76420268 76420268 single base substitution G A intron_variant MELA-AU 4 76420268 76420268 single base substitution G A upstream_gene_variant MELA-AU 4 76420912 76420912 single base substitution G A intron_variant MELA-AU 4 76420912 76420912 single base substitution G A upstream_gene_variant MELA-AU 4 76421797 76421797 single base substitution G A intron_variant MELA-AU 4 76421797 76421797 single base substitution G A upstream_gene_variant MELA-AU 4 76421889 76421889 single base substitution C T intron_variant MELA-AU 4 76421889 76421889 single base substitution C T upstream_gene_variant MELA-AU 4 76422367 76422367 single base substitution A C intron_variant MELA-AU 4 76422367 76422367 single base substitution A C upstream_gene_variant MELA-AU 4 76423205 76423205 single base substitution G A intron_variant MELA-AU 4 76423205 76423205 single base substitution G A upstream_gene_variant MELA-AU 4 76424430 76424430 single base substitution G A intron_variant MELA-AU 4 76424430 76424430 single base substitution G A upstream_gene_variant MELA-AU 4 76424539 76424539 single base substitution A T intron_variant MELA-AU 4 76424539 76424539 single base substitution A T upstream_gene_variant MELA-AU 4 76424647 76424647 single base substitution G A intron_variant MELA-AU 4 76426151 76426151 single base substitution G A intron_variant MELA-AU 4 76426836 76426836 single base substitution A G intron_variant MELA-AU 4 76427306 76427306 single base substitution G A intron_variant MELA-AU 4 76427306 76427307 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 76427968 76427968 single base substitution A T intron_variant MELA-AU 4 76428189 76428189 single base substitution A T intron_variant MELA-AU 4 76428338 76428338 single base substitution G C intron_variant MELA-AU 4 76429085 76429085 single base substitution G A intron_variant MELA-AU 4 76429149 76429149 single base substitution G A intron_variant MELA-AU 4 76430102 76430102 single base substitution A T intron_variant MELA-AU 4 76430106 76430107 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 76431279 76431279 single base substitution G A intron_variant MELA-AU 4 76432149 76432149 single base substitution G A intron_variant MELA-AU 4 76432607 76432607 single base substitution G A intron_variant MELA-AU 4 76432645 76432645 single base substitution A G intron_variant MELA-AU 4 76432851 76432851 single base substitution G A intron_variant MELA-AU 4 76432879 76432879 single base substitution C T intron_variant MELA-AU 4 76433157 76433157 single base substitution G A intron_variant MELA-AU 4 76433836 76433836 single base substitution G A intron_variant MELA-AU 4 76434271 76434271 single base substitution G T intron_variant MELA-AU 4 76435521 76435521 deletion of <=200bp A - intron_variant MELA-AU 4 76435521 76435521 deletion of <=200bp A - upstream_gene_variant MELA-AU 4 76436035 76436035 single base substitution G A intron_variant MELA-AU 4 76436035 76436035 single base substitution G A upstream_gene_variant MELA-AU 4 76436162 76436162 single base substitution G A intron_variant MELA-AU 4 76436162 76436162 single base substitution G A upstream_gene_variant MELA-AU 4 76439481 76439481 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 4 76439481 76439481 single base substitution G A exon_variant MELA-AU 4 76439481 76439481 single base substitution G A intron_variant MELA-AU 4 76439481 76439481 single base substitution G A missense_variant R6W 16C>T MELA-AU 4 76439481 76439481 single base substitution G A upstream_gene_variant MELA-AU 4 76440340 76440340 single base substitution G A upstream_gene_variant MELA-AU 4 76440866 76440866 deletion of <=200bp A - upstream_gene_variant MELA-AU 4 76440991 76440991 single base substitution A G upstream_gene_variant MELA-AU 4 76442451 76442451 single base substitution C T upstream_gene_variant MELA-AU 4 76442453 76442453 single base substitution C T upstream_gene_variant MELA-AU 4 76442796 76442796 single base substitution G A upstream_gene_variant MELA-AU 4 76442911 76442911 single base substitution C T upstream_gene_variant MELA-AU 4 76443164 76443165 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 4 76443574 76443574 single base substitution C T upstream_gene_variant MELA-AU 4 76443806 76443806 single base substitution G A upstream_gene_variant MELA-AU 4 76444762 76444762 single base substitution C T upstream_gene_variant ORCA-IN 4 76433023 76433023 single base substitution T C intron_variant OV-AU 4 76399264 76399264 single base substitution A G downstream_gene_variant OV-AU 4 76408020 76408020 single base substitution T G intron_variant OV-AU 4 76408674 76408674 single base substitution G T intron_variant OV-AU 4 76422884 76422884 single base substitution T G intron_variant OV-AU 4 76422884 76422884 single base substitution T G upstream_gene_variant OV-AU 4 76424069 76424069 single base substitution T A intron_variant OV-AU 4 76424069 76424069 single base substitution T A upstream_gene_variant OV-AU 4 76424070 76424070 single base substitution C T intron_variant OV-AU 4 76424070 76424070 single base substitution C T upstream_gene_variant OV-AU 4 76425184 76425184 single base substitution C G intron_variant OV-AU 4 76427887 76427887 single base substitution A C intron_variant OV-AU 4 76431927 76431927 single base substitution G A intron_variant OV-AU 4 76437065 76437065 single base substitution T G intron_variant OV-AU 4 76437065 76437065 single base substitution T G upstream_gene_variant PACA-AU 4 76408129 76408129 single base substitution A G intron_variant PACA-AU 4 76411596 76411598 deletion of <=200bp ATT - downstream_gene_variant PACA-AU 4 76411596 76411598 deletion of <=200bp ATT - intron_variant PACA-AU 4 76412356 76412356 single base substitution G T downstream_gene_variant PACA-AU 4 76412356 76412356 single base substitution G T intron_variant PACA-AU 4 76415235 76415235 single base substitution G C downstream_gene_variant PACA-AU 4 76415235 76415235 single base substitution G C intron_variant PACA-AU 4 76415879 76415879 single base substitution G A 3_prime_UTR_variant PACA-AU 4 76415879 76415879 single base substitution G A downstream_gene_variant PACA-AU 4 76415879 76415879 single base substitution G A exon_variant PACA-AU 4 76415879 76415879 single base substitution G A missense_variant A141V 422C>T PACA-AU 4 76415879 76415879 single base substitution G A missense_variant A150V 449C>T PACA-AU 4 76415879 76415879 single base substitution G A missense_variant A168V 503C>T PACA-AU 4 76415879 76415879 single base substitution G A missense_variant A181V 542C>T PACA-AU 4 76415879 76415879 single base substitution G A missense_variant A190V 569C>T PACA-AU 4 76415879 76415879 single base substitution G A splice_region_variant PACA-AU 4 76415879 76415879 single base substitution G A synonymous_variant C189C 567C>T PACA-AU 4 76421574 76421574 single base substitution G A intron_variant PACA-AU 4 76421574 76421574 single base substitution G A upstream_gene_variant PACA-AU 4 76428657 76428668 deletion of <=200bp AGCATTTTGGGA - intron_variant PACA-AU 4 76437737 76437737 single base substitution T A intron_variant PACA-AU 4 76437737 76437737 single base substitution T A upstream_gene_variant PACA-AU 4 76440210 76440210 single base substitution A G upstream_gene_variant PACA-AU 4 76443622 76443622 single base substitution T A upstream_gene_variant PACA-CA 4 76405555 76405555 single base substitution G A 3_prime_UTR_variant PACA-CA 4 76405555 76405555 single base substitution G A downstream_gene_variant PACA-CA 4 76409006 76409006 single base substitution A C intron_variant PACA-CA 4 76410390 76410394 deletion of <=200bp GGACA - intron_variant PACA-CA 4 76410396 76410400 deletion of <=200bp GGACA - intron_variant PACA-CA 4 76410404 76410405 deletion of <=200bp AG - intron_variant PACA-CA 4 76410408 76410409 deletion of <=200bp AC - intron_variant PACA-CA 4 76412903 76412904 deletion of <=200bp AT - downstream_gene_variant PACA-CA 4 76412903 76412904 deletion of <=200bp AT - intron_variant PACA-CA 4 76412928 76412929 deletion of <=200bp AT - downstream_gene_variant PACA-CA 4 76412928 76412929 deletion of <=200bp AT - intron_variant PACA-CA 4 76412995 76412996 deletion of <=200bp AT - downstream_gene_variant PACA-CA 4 76412995 76412996 deletion of <=200bp AT - intron_variant PACA-CA 4 76413015 76413021 deletion of <=200bp ATTCATA - downstream_gene_variant PACA-CA 4 76413015 76413021 deletion of <=200bp ATTCATA - intron_variant PACA-CA 4 76416812 76416812 single base substitution A G 3_prime_UTR_variant PACA-CA 4 76416812 76416812 single base substitution A G downstream_gene_variant PACA-CA 4 76416812 76416812 single base substitution A G exon_variant PACA-CA 4 76416812 76416812 single base substitution A G intron_variant PACA-CA 4 76417362 76417362 single base substitution A C intron_variant PACA-CA 4 76418218 76418218 single base substitution T C intron_variant PACA-CA 4 76421029 76421029 single base substitution A C intron_variant PACA-CA 4 76421029 76421029 single base substitution A C upstream_gene_variant PACA-CA 4 76423251 76423251 deletion of <=200bp A - intron_variant PACA-CA 4 76423251 76423251 deletion of <=200bp A - upstream_gene_variant PACA-CA 4 76426338 76426338 single base substitution G A intron_variant PACA-CA 4 76426475 76426475 single base substitution T C intron_variant PACA-CA 4 76427453 76427453 single base substitution G C intron_variant PACA-CA 4 76428815 76428815 single base substitution T C intron_variant PACA-CA 4 76429696 76429696 deletion of <=200bp C - intron_variant PACA-CA 4 76431466 76431466 single base substitution G A intron_variant PACA-CA 4 76432266 76432266 insertion of <=200bp - A intron_variant PACA-CA 4 76433581 76433581 single base substitution T C intron_variant PACA-CA 4 76443271 76443271 single base substitution T C upstream_gene_variant PAEN-IT 4 76400258 76400258 single base substitution G T downstream_gene_variant PBCA-DE 4 76408472 76408472 insertion of <=200bp - G intron_variant PBCA-DE 4 76414759 76414759 insertion of <=200bp - GATATTGCAGATT downstream_gene_variant PBCA-DE 4 76414759 76414759 insertion of <=200bp - GATATTGCAGATT intron_variant PRAD-CA 4 76404913 76404913 single base substitution C T 3_prime_UTR_variant PRAD-CA 4 76404913 76404913 single base substitution C T downstream_gene_variant PRAD-CA 4 76405601 76405601 single base substitution T C 3_prime_UTR_variant PRAD-CA 4 76405601 76405601 single base substitution T C downstream_gene_variant PRAD-CA 4 76441514 76441514 single base substitution A G upstream_gene_variant PRAD-UK 4 76404019 76404019 single base substitution T C downstream_gene_variant PRAD-UK 4 76414424 76414424 single base substitution G A downstream_gene_variant PRAD-UK 4 76414424 76414424 single base substitution G A intron_variant PRAD-US 4 76417113 76417113 single base substitution G T 3_prime_UTR_variant PRAD-US 4 76417113 76417113 single base substitution G T downstream_gene_variant PRAD-US 4 76417113 76417113 single base substitution G T exon_variant PRAD-US 4 76417113 76417113 single base substitution G T missense_variant P106T 316C>A PRAD-US 4 76417113 76417113 single base substitution G T missense_variant P124T 370C>A PRAD-US 4 76417113 76417113 single base substitution G T missense_variant P146T 436C>A RECA-EU 4 76401904 76401904 single base substitution A T downstream_gene_variant RECA-EU 4 76403856 76403856 single base substitution G A downstream_gene_variant RECA-EU 4 76409404 76409404 single base substitution C T intron_variant RECA-EU 4 76409593 76409593 single base substitution G A intron_variant RECA-EU 4 76413834 76413834 single base substitution C G downstream_gene_variant RECA-EU 4 76413834 76413834 single base substitution C G intron_variant RECA-EU 4 76424887 76424887 single base substitution C A intron_variant RECA-EU 4 76424921 76424921 single base substitution T A intron_variant RECA-EU 4 76425223 76425223 single base substitution T C intron_variant RECA-EU 4 76429079 76429079 single base substitution A T intron_variant SKCA-BR 4 76399341 76399341 single base substitution C T downstream_gene_variant SKCA-BR 4 76400860 76400860 single base substitution G A downstream_gene_variant SKCA-BR 4 76401512 76401515 deletion of <=200bp ATTT - downstream_gene_variant SKCA-BR 4 76407218 76407218 single base substitution G C 3_prime_UTR_variant SKCA-BR 4 76407218 76407218 single base substitution G C downstream_gene_variant SKCA-BR 4 76407218 76407218 single base substitution G C exon_variant SKCA-BR 4 76407538 76407538 single base substitution A T 3_prime_UTR_variant SKCA-BR 4 76407538 76407538 single base substitution A T downstream_gene_variant SKCA-BR 4 76407538 76407538 single base substitution A T exon_variant SKCA-BR 4 76412837 76412842 deletion of <=200bp CATAAT - downstream_gene_variant SKCA-BR 4 76412837 76412842 deletion of <=200bp CATAAT - intron_variant SKCA-BR 4 76412942 76412942 insertion of <=200bp - AAT downstream_gene_variant SKCA-BR 4 76412942 76412942 insertion of <=200bp - AAT intron_variant SKCA-BR 4 76413008 76413021 deletion of <=200bp TATATATATTCATA - downstream_gene_variant SKCA-BR 4 76413008 76413021 deletion of <=200bp TATATATATTCATA - intron_variant SKCA-BR 4 76413090 76413102 deletion of <=200bp AATATATATATTC - downstream_gene_variant SKCA-BR 4 76413090 76413102 deletion of <=200bp AATATATATATTC - intron_variant SKCA-BR 4 76415703 76415703 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 4 76415703 76415703 insertion of <=200bp - AT intron_variant SKCA-BR 4 76416056 76416056 single base substitution G A downstream_gene_variant SKCA-BR 4 76416056 76416056 single base substitution G A exon_variant SKCA-BR 4 76416056 76416056 single base substitution G A intron_variant SKCA-BR 4 76417630 76417630 single base substitution G A intron_variant SKCA-BR 4 76418526 76418526 single base substitution A C intron_variant SKCA-BR 4 76418844 76418844 insertion of <=200bp - AT intron_variant SKCA-BR 4 76423823 76423823 single base substitution A C intron_variant SKCA-BR 4 76423823 76423823 single base substitution A C upstream_gene_variant SKCA-BR 4 76427677 76427677 single base substitution G A intron_variant SKCA-BR 4 76428103 76428103 single base substitution G A intron_variant SKCA-BR 4 76428449 76428449 single base substitution G A intron_variant SKCA-BR 4 76431313 76431313 insertion of <=200bp - GA intron_variant SKCA-BR 4 76431355 76431355 single base substitution C A intron_variant SKCA-BR 4 76435023 76435023 single base substitution C T intron_variant SKCA-BR 4 76435023 76435023 single base substitution C T upstream_gene_variant SKCA-BR 4 76439644 76439644 single base substitution G A 5_prime_UTR_variant SKCA-BR 4 76439644 76439644 single base substitution G A intron_variant SKCA-BR 4 76439644 76439644 single base substitution G A upstream_gene_variant SKCA-BR 4 76444535 76444535 insertion of <=200bp - CT upstream_gene_variant STAD-US 4 76419368 76419368 single base substitution A C 3_prime_UTR_variant STAD-US 4 76419368 76419368 single base substitution A C exon_variant STAD-US 4 76419368 76419368 single base substitution A C missense_variant F116L 348T>G STAD-US 4 76419368 76419368 single base substitution A C missense_variant F76L 228T>G STAD-US 4 76419368 76419368 single base substitution A C missense_variant F94L 282T>G STAD-US 4 76442037 76442037 single base substitution G C upstream_gene_variant THCA-SA 4 76404759 76404759 single base substitution C A 3_prime_UTR_variant THCA-SA 4 76404759 76404759 single base substitution C A downstream_gene_variant UCEC-US 4 76415903 76415903 single base substitution C T 3_prime_UTR_variant UCEC-US 4 76415903 76415903 single base substitution C T downstream_gene_variant UCEC-US 4 76415903 76415903 single base substitution C T exon_variant UCEC-US 4 76415903 76415903 single base substitution C T intron_variant UCEC-US 4 76415903 76415903 single base substitution C T missense_variant R133K 398G>A UCEC-US 4 76415903 76415903 single base substitution C T missense_variant R142K 425G>A UCEC-US 4 76415903 76415903 single base substitution C T missense_variant R160K 479G>A UCEC-US 4 76415903 76415903 single base substitution C T missense_variant R173K 518G>A UCEC-US 4 76415903 76415903 single base substitution C T missense_variant R182K 545G>A UCEC-US 4 76415903 76415903 single base substitution C T synonymous_variant Q181Q 543G>A UCEC-US 4 76434089 76434089 single base substitution T C exon_variant UCEC-US 4 76434089 76434089 single base substitution T C missense_variant I49M 147A>G UCEC-US 4 76434089 76434089 single base substitution T C missense_variant I67M 201A>G UCEC-US 4 76434089 76434089 single base substitution T C missense_variant I89M 267A>G UCEC-US 4 76434118 76434118 single base substitution T C exon_variant UCEC-US 4 76434118 76434118 single base substitution T C missense_variant T40A 118A>G UCEC-US 4 76434118 76434118 single base substitution T C missense_variant T58A 172A>G UCEC-US 4 76434118 76434118 single base substitution T C missense_variant T80A 238A>G UCEC-US 4 76434127 76434127 single base substitution C A exon_variant UCEC-US 4 76434127 76434127 single base substitution C A stop_gained E37* 109G>T UCEC-US 4 76434127 76434127 single base substitution C A stop_gained E55* 163G>T UCEC-US 4 76434127 76434127 single base substitution C A stop_gained E77* 229G>T UCEC-US 4 76434397 76434397 single base substitution T G exon_variant UCEC-US 4 76434397 76434397 single base substitution T G intron_variant UCEC-US 4 76434397 76434397 single base substitution T G missense_variant K45T 134A>C UCEC-US 4 76434397 76434397 single base substitution T G missense_variant K67T 200A>C UCEC-US 4 76440715 76440715 single base substitution C T upstream_gene_variant UCEC-US 4 76442188 76442188 single base substitution A G upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand YUFERY COSM5401551 c.563_564AC>TT p.H188L Substitution - Missense 4:75490674-75490675 - SNU-175 COSM2831599 c.681A>G p.G227G Substitution - coding silent 4:75482643-75482643 - pfg125T COSM4757713 c.642G>C p.Q214H Substitution - Missense 4:75490596-75490596 - TCGA-AS-3777-01 COSM1495819 c.709G>A p.G237S Substitution - Missense 4:75482615-75482615 - TCGA-DK-A1AC-01 COSM1310254 c.151C>T p.Q51* Substitution - Nonsense 4:75509236-75509236 - Pa16C COSM84860 c.569C>T p.A190V Substitution - Missense 4:75490669-75490669 - TCGA-AP-A056-01 COSM1057535 c.545G>A p.R182K Substitution - Missense 4:75490693-75490693 - COLO678 COSM2831606 c.225T>G p.C75W Substitution - Missense 4:75508921-75508921 - T578 COSM4720884 c.250G>T p.E84* Substitution - Nonsense 4:75508896-75508896 - TCGA-C5-A1BI-01 COSM2831612 c.44G>A p.R15Q Substitution - Missense 4:75514243-75514243 - HCC2998 COSM1328403 c.161G>A p.R54H Substitution - Missense 4:75509226-75509226 - TCGA-DW-7840-01 COSM3993782 c.565T>G p.S189A Substitution - Missense 4:75490673-75490673 - TCGA-EJ-7327-01 COSM1471693 c.436C>A p.P146T Substitution - Missense 4:75491903-75491903 - TCGA-AA-3872-01 COSM296378 c.682C>T p.R228* Substitution - Nonsense 4:75482642-75482642 - TCGA-B5-A0JY-01 COSM1057541 c.229G>T p.E77* Substitution - Nonsense 4:75508917-75508917 - 8062307 COSM84860 c.569C>T p.A190V Substitution - Missense 4:75490669-75490669 - PT08_1 COSM5893008 c.700C>T p.H234Y Substitution - Missense 4:75482624-75482624 - PCSI_0890_Pa_P_526 COSM5762056 c.536+9T>C p.? Unknown 4:75491602-75491602 - HCC055T COSM5823965 c.486G>A p.L162L Substitution - coding silent 4:75491747-75491747 - TCGA-AP-A059-01 COSM1057537 c.267A>G p.I89M Substitution - Missense 4:75508879-75508879 - LUAD-E00443 COSM363982 c.585G>T p.R195S Substitution - Missense 4:75490653-75490653 - TCGA-AA-A010-01 COSM284526 c.661C>A p.L221I Substitution - Missense 4:75482663-75482663 - TCGA-61-1733-01 COSM1328403 c.161G>A p.R54H Substitution - Missense 4:75509226-75509226 - PT23_1 COSM5902710 c.556T>G p.C186G Substitution - Missense 4:75490682-75490682 - TCGA-D1-A103-01 COSM1057543 c.200A>C p.K67T Substitution - Missense 4:75509187-75509187 - 489 COSM3723335 c.661C>G p.L221V Substitution - Missense 4:75482663-75482663 - TCGA-D5-6924-01 COSM1430996 c.292_294delAAG p.K98delK Deletion - In frame 4:75508852-75508854 - TCGA-AA-3713-01 COSM1430997 c.202delA p.I68fs*53 Deletion - Frameshift 4:75509185-75509185 - PT08_2 COSM5893008 c.700C>T p.H234Y Substitution - Missense 4:75482624-75482624 - TCGA-AX-A0J0-01 COSM1057539 c.238A>G p.T80A Substitution - Missense 4:75508908-75508908 - TCGA-BH-A18P-01 COSM448127 c.640C>G p.Q214E Substitution - Missense 4:75490598-75490598 - CSCC-40-T COSM4449750 c.315_316delTG p.C105fs*4 Deletion - Frameshift 4:75508830-75508831 - BD124T COSM5491818 c.211-2A>T p.? Unknown 4:75508937-75508937 - TCGA-BR-8680-01 COSM4125945 c.348T>G p.F116L Substitution - Missense 4:75494158-75494158 - TCGA-BQ-5887-01 COSM3993783 c.21A>G p.E7E Substitution - coding silent 4:75514266-75514266 - CSCC-16-T COSM4571983 c.606T>C p.D202D Substitution - coding silent 4:75490632-75490632 - TCGA-D8-A27G-01 COSM3826204 c.53G>A p.R18Q Substitution - Missense 4:75514234-75514234 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.48100;Hs.48297 4q21.1 607680 2459468|CGAP|BC047393|A/C|non-coding||1399|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.R198I c.593G>T 4 76415855 LUAD C T IntronicSNV . c.90+2159G>A 4 76437248 PIA C T Missense p.A190V c.569C>T 4 76415879 PAAD C T Missense p.C186Y c.557G>A 4 76415891 STAD C T Synonymous p.L177L c.531G>A 4 76416826 CM G A IntronicSNV . c.90+24C>T 4 76439383 CM G A IntronicSNV . c.90+37C>T 4 76439370 CM G A Nonsense p.R228* c.682C>T 4 76407852 COREAD G C Missense p.L221V c.661C>G 4 76407873 HNSC GG AA IntronicBlockSubstitution . c.327-114_327-113delinsTT 4 76419502 CM G T Missense p.P146T c.436C>A 4 76417113 PRAD T A 3-UTRSNV . c.783+343A>T 4 76407408 HC T C Synonymous p.P210P c.630A>G 4 76415818 HNSC